##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##ALT=<ID=NON_REF,Description="Represents any possible alternative allele at this location">
##FILTER=<ID=LowQual,Description="Low quality">
##FILTER=<ID=MG_INDEL_Filter,Description="QD < 2.0  || FS > 200.0 || ReadPosRankSum < -20.0">
##FILTER=<ID=MG_SNP_Filter,Description="QD < 2.0  || FS > 60.0 || MQ < 40.0 ||  MQRankSum < -12.5  ||  ReadPosRankSum < -8.0">
##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=MIN_DP,Number=1,Type=Integer,Description="Minimum DP observed within the GVCF block">
##FORMAT=<ID=PGT,Number=1,Type=String,Description="Physical phasing haplotype information, describing how the alternate alleles are phased in relation to one another">
##FORMAT=<ID=PID,Number=1,Type=String,Description="Physical phasing ID information, where each unique ID within a given sample (but not across samples) connects records within a phasing group">
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
##FORMAT=<ID=RGQ,Number=1,Type=Integer,Description="Unconditional reference genotype confidence, encoded as a phred quality -10*log10 p(genotype call is wrong)">
##FORMAT=<ID=SB,Number=4,Type=Integer,Description="Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias.">
##GATKCommandLine=<ID=GenotypeGVCFs,CommandLine="GenotypeGVCFs  --output /garnet/Analysis/BI/Exome/HN00136338/Analysis_v4_hg38/WES08-Paw/VARIANT/tmp2/chrY.rawVariants.vcf --variant /garnet/Analysis/BI/Exome/HN00136338/Analysis_v4_hg38/WES08-Paw/VARIANT/tmp2/chrY.g.vcf --intervals /garnet/Analysis/BI/Exome/HN00136338/Analysis_v4_hg38/WES08-Paw/VARIANT/tmp/chrY.bed --interval-padding 100 --reference /garnet/Tools/WES_Analysis/GATK_Analysis/reference/GRCh38/hg38.fa  --use-new-qual-calculator false --annotate-with-num-discovered-alleles false --heterozygosity 0.001 --indel-heterozygosity 1.25E-4 --heterozygosity-stdev 0.01 --standard-min-confidence-threshold-for-calling 10.0 --max-alternate-alleles 6 --max-genotype-count 1024 --sample-ploidy 2 --num-reference-samples-if-no-call 0 --only-output-calls-starting-in-intervals false --interval-set-rule UNION --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --verbosity INFO --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --disable-tool-default-read-filters false --disable-tool-default-annotations false --enable-all-annotations false",Version=4.0.5.1,Date="October 26, 2020 1:29:40 PM KST">
##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
##INFO=<ID=SAMPLES_AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities">
##INFO=<ID=ClippingRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref number of hard clipped bases">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
##INFO=<ID=DS,Number=0,Type=Flag,Description="Were any of the samples downsampled?">
##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval">
##INFO=<ID=ExcessHet,Number=1,Type=Float,Description="Phred-scaled p-value for exact test of excess heterozygosity">
##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation">
##INFO=<ID=MLEAC,Number=A,Type=Integer,Description="Maximum likelihood expectation (MLE) for the allele counts (not necessarily the same as the AC), for each ALT allele, in the same order as listed">
##INFO=<ID=MLEAF,Number=A,Type=Float,Description="Maximum likelihood expectation (MLE) for the allele frequency (not necessarily the same as the AF), for each ALT allele, in the same order as listed">
##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality">
##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities">
##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
##INFO=<ID=RAW_MQ,Number=1,Type=Float,Description="Raw data for RMS Mapping Quality">
##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias">
##INFO=<ID=SOR,Number=1,Type=Float,Description="Symmetric Odds Ratio of 2x2 contingency table to detect strand bias">
##contig=<ID=chrM,length=16569,assembly=hg38.fa>
##contig=<ID=chr1,length=248956422,assembly=hg38.fa>
##contig=<ID=chr2,length=242193529,assembly=hg38.fa>
##contig=<ID=chr3,length=198295559,assembly=hg38.fa>
##contig=<ID=chr4,length=190214555,assembly=hg38.fa>
##contig=<ID=chr5,length=181538259,assembly=hg38.fa>
##contig=<ID=chr6,length=170805979,assembly=hg38.fa>
##contig=<ID=chr7,length=159345973,assembly=hg38.fa>
##contig=<ID=chr8,length=145138636,assembly=hg38.fa>
##contig=<ID=chr9,length=138394717,assembly=hg38.fa>
##contig=<ID=chr10,length=133797422,assembly=hg38.fa>
##contig=<ID=chr11,length=135086622,assembly=hg38.fa>
##contig=<ID=chr12,length=133275309,assembly=hg38.fa>
##contig=<ID=chr13,length=114364328,assembly=hg38.fa>
##contig=<ID=chr14,length=107043718,assembly=hg38.fa>
##contig=<ID=chr15,length=101991189,assembly=hg38.fa>
##contig=<ID=chr16,length=90338345,assembly=hg38.fa>
##contig=<ID=chr17,length=83257441,assembly=hg38.fa>
##contig=<ID=chr18,length=80373285,assembly=hg38.fa>
##contig=<ID=chr19,length=58617616,assembly=hg38.fa>
##contig=<ID=chr20,length=64444167,assembly=hg38.fa>
##contig=<ID=chr21,length=46709983,assembly=hg38.fa>
##contig=<ID=chr22,length=50818468,assembly=hg38.fa>
##contig=<ID=chrX,length=156040895,assembly=hg38.fa>
##contig=<ID=chrY,length=57227415,assembly=hg38.fa>
##reference=file:///garnet/Tools/WES_Analysis/GATK_Analysis/reference/GRCh38/hg38.fa
##source=GenotypeGVCFs
##bcftools_normVersion=1.2+htslib-1.2.1
##bcftools_normCommand=norm -Ov -m-any /garnet/Analysis/BI/Exome/HN00136338/Analysis_v4_hg38/WES08-Paw/VARIANT/WES08-Paw.Filtered.Variants.vcf
##SnpSiftVersion="SnpSift 4.3t (build 2017-11-24 10:18), by Pablo Cingolani"
##SnpSiftCmd="SnpSift VarType - -"
##INFO=<ID=SNP,Number=0,Type=Flag,Description="Variant is a SNP">
##INFO=<ID=MNP,Number=0,Type=Flag,Description="Variant is a MNP">
##INFO=<ID=INS,Number=0,Type=Flag,Description="Variant is a INS">
##INFO=<ID=DEL,Number=0,Type=Flag,Description="Variant is a DEL">
##INFO=<ID=MIXED,Number=0,Type=Flag,Description="Variant is a MIXED">
##INFO=<ID=HOM,Number=0,Type=Flag,Description="Variant is homozygous">
##INFO=<ID=HET,Number=0,Type=Flag,Description="Variant is heterozygous">
##SnpSiftVersion="SnpSift 4.3t (build 2017-11-24 10:18), by Pablo Cingolani"
##SnpSiftCmd="SnpSift Annotate /garnet/Tools/WES_Analysis/GATK_Analysis/AnnoDB/hg38/dbSNP/dbSNP138/dbSNP138_hg38.vcf.gz -noId -info dbSNP138_ID -"
##SnpSiftVersion="SnpSift 4.3t (build 2017-11-24 10:18), by Pablo Cingolani"
##SnpSiftCmd="SnpSift Annotate /garnet/Tools/WES_Analysis/GATK_Analysis/AnnoDB/hg38/dbSNP/dbSNP151/00-All.vcf.gz - -info dbSNPBuildID"
##INFO=<ID=dbSNP138_ID,Number=1,Type=String,Description="dbSNP138 Build ID">
##INFO=<ID=dbSNPBuildID,Number=1,Type=Integer,Description="First dbSNP Build for RS">
##SnpEffVersion="4.3t (build 2017-11-24 10:18), by Pablo Cingolani"
##SnpEffCmd="SnpEff  hg38 -lof - "
##INFO=<ID=ANN,Number=.,Type=String,Description="Functional annotations: 'Allele | Annotation | Annotation_Impact | Gene_Name | Gene_ID | Feature_Type | Feature_ID | Transcript_BioType | Rank | HGVS.c | HGVS.p | cDNA.pos / cDNA.length | CDS.pos / CDS.length | AA.pos / AA.length | Distance | ERRORS / WARNINGS / INFO' ">
##INFO=<ID=LOF,Number=.,Type=String,Description="Predicted loss of function effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected'">
##INFO=<ID=NMD,Number=.,Type=String,Description="Predicted nonsense mediated decay effects for this variant. Format: 'Gene_Name | Gene_ID | Number_of_transcripts_in_gene | Percent_of_transcripts_affected'">
##SnpSiftCmd="SnpSift Annotate -name p3_1000G_ /garnet/Tools/WES_Analysis/GATK_Analysis/AnnoDB/hg38/1KG/20170504/ALL.GRCh38_sites.20170504.vcf.gz /garnet/Analysis/BI/Exome/HN00136338/Analysis_v4_hg38/WES08-Paw/VARIANT/in.vcf"
##INFO=<ID=p3_1000G_REF_SWITCH,Number=0,Type=Flag,Description="Indicates that the reference allele has changed">
##INFO=<ID=p3_1000G_AMR_AF,Number=A,Type=Float,Description="Allele frequency in the AMR populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=p3_1000G_AA,Number=1,Type=String,Description="Ancestral allele">
##INFO=<ID=p3_1000G_AC,Number=A,Type=Integer,Description="Total number of alternate alleles in called genotypes">
##INFO=<ID=p3_1000G_ALLELE_TRANSFORM,Number=0,Type=Flag,Description="Indicates that at least some of the alleles have changed in how they're represented, e.g. through left shifting.">
##INFO=<ID=p3_1000G_AF,Number=A,Type=Float,Description="Estimated allele frequency in the range (0,1]">
##INFO=<ID=p3_1000G_AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
##INFO=<ID=p3_1000G_MULTI_ALLELIC,Number=0,Type=Flag,Description="indicates whether a site is multi-allelic">
##INFO=<ID=p3_1000G_AFR_AF,Number=A,Type=Float,Description="Allele frequency in the AFR populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=p3_1000G_EAS_AF,Number=A,Type=Float,Description="Allele frequency in the EAS populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=p3_1000G_GRCH37_38_REF_STRING_MATCH,Number=0,Type=Flag,Description="Indicates reference allele in origin GRCh37 vcf string-matches reference allele in dbsnp GRCh38 vcf">
##INFO=<ID=p3_1000G_GRCH37_POS,Number=1,Type=Integer,Description="Position in origin GRCh37 vcf">
##INFO=<ID=p3_1000G_EUR_AF,Number=A,Type=Float,Description="Allele frequency in the EUR populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=p3_1000G_SAS_AF,Number=A,Type=Float,Description="Allele frequency in the SAS populations calculated from AC and AN, in the range (0,1)">
##INFO=<ID=p3_1000G_RSID_REMOVED,Number=.,Type=String,Description="dbsnp rs IDs removed from this variant, due to either the variant splitting up or being deprecated/merged">
##INFO=<ID=p3_1000G_DP,Number=1,Type=Integer,Description="Total read depth">
##INFO=<ID=p3_1000G_SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##INFO=<ID=p3_1000G_GRCH37_REF,Number=1,Type=String,Description="Representation of reference allele in origin GRCh37 vcf">
##INFO=<ID=p3_1000G_REF_NEW_ALLELE,Number=0,Type=Flag,Description="Indicates that the reference allele is an allele not present in the origin GRCh37 vcf">
##INFO=<ID=p3_1000G_DEPRECATED_RSID,Number=.,Type=String,Description="dbsnp rs IDs that have been merged into other rs IDs or do not map to GRCh38">
##INFO=<ID=p3_1000G_END,Number=1,Type=Integer,Description="End coordinate of this variant">
##INFO=<ID=p3_1000G_VT,Number=.,Type=String,Description="indicates what type of variant the line represents">
##INFO=<ID=p3_1000G_NS,Number=1,Type=Integer,Description="Number of samples with data">
##INFO=<ID=p3_1000G_EX_TARGET,Number=0,Type=Flag,Description="indicates whether a variant is within the exon pull down target boundaries">
##INFO=<ID=p3_1000G_CHROM_CHANGE_BETWEEN_ASSEMBLIES,Number=.,Type=String,Description="dbsnp rs IDs that are mapped to a different chromosome between GRCh37 and GRCh38">
##INFO=<ID=p3_1000G_NOT_ALL_RSIDS_STRAND_CHANGE_OR_REF_SWITCH,Number=0,Type=Flag,Description="Indicates only some of the rs IDs in origin GRCh37 vcf switched strands or switched strands and changed reference allele. This would result in rs IDs being split into multiple lines">
##INFO=<ID=p3_1000G_STRAND_FLIP,Number=0,Type=Flag,Description="Indicates that the reference strand has changed between GRCh37 and GRCh38">
##SnpSiftCmd="SnpSift Annotate -name ESP6500_ /garnet/Tools/WES_Analysis/GATK_Analysis/AnnoDB/hg38/ESP6500/ESP6500.vcf.gz /garnet/Analysis/BI/Exome/HN00136338/Analysis_v4_hg38/WES08-Paw/VARIANT/in.vcf"
##INFO=<ID=ESP6500_GTS,Number=.,Type=String,Description="Observed Genotypes. For INDELs, A1, A2, or An refers to the N-th alternate allele while R refers to the reference allele.">
##INFO=<ID=ESP6500_AA_AC,Number=.,Type=String,Description="African American Allele Count in the order of AltAlleles,RefAllele. For INDELs, A1, A2, or An refers to the N-th alternate allele while R refers to the reference allele.">
##INFO=<ID=ESP6500_AA,Number=1,Type=String,Description="chimpAllele">
##INFO=<ID=ESP6500_CDS_SIZES,Number=.,Type=String,Description="Coding DNA Sizes">
##INFO=<ID=ESP6500_EXOME_CHIP,Number=.,Type=String,Description="Whether a SNP is on the Illumina HumanExome Chip">
##INFO=<ID=ESP6500_MAF,Number=.,Type=String,Description="Minor Allele Frequency in percent in the order of EA,AA,All">
##INFO=<ID=ESP6500_EA_AC,Number=.,Type=String,Description="European American Allele Count in the order of AltAlleles,RefAllele. For INDELs, A1, A2, or An refers to the N-th alternate allele while R refers to the reference allele.">
##INFO=<ID=ESP6500_CA,Number=.,Type=String,Description="clinicalAssociation">
##INFO=<ID=ESP6500_CG,Number=1,Type=Float,Description="consScoreGERP">
##INFO=<ID=ESP6500_CP,Number=1,Type=Float,Description="scorePhastCons">
##INFO=<ID=ESP6500_TAC,Number=.,Type=String,Description="Total Allele Count in the order of AltAlleles,RefAllele For INDELs, A1, A2, or An refers to the N-th alternate allele while R refers to the reference allele.">
##INFO=<ID=ESP6500_HGVS_PROTEIN_VAR,Number=.,Type=String,Description="HGVS Protein Variant">
##INFO=<ID=ESP6500_GRCh38_POSITION,Number=.,Type=String,Description="GRCh38 chromosomal postion liftover from the original GRCh37 chromosomal position. A value of -1 means the GRCh37 position can not be mapped to the GRCh38 build.">
##INFO=<ID=ESP6500_DP,Number=1,Type=Integer,Description="Average Sample Read Depth">
##INFO=<ID=ESP6500_EA_GTC,Number=.,Type=String,Description="European American Genotype Counts in the order of listed GTS">
##INFO=<ID=ESP6500_FG,Number=.,Type=String,Description="functionGVS">
##INFO=<ID=ESP6500_EA_AGE,Number=.,Type=String,Description="Esitmated Variant Age in kilo years for the European American Population">
##INFO=<ID=ESP6500_DBSNP,Number=.,Type=String,Description="dbSNP version which established the rs_id">
##INFO=<ID=ESP6500_GL,Number=.,Type=String,Description="geneList">
##INFO=<ID=ESP6500_HGVS_CDNA_VAR,Number=.,Type=String,Description="HGVS Coding DNA Variant">
##INFO=<ID=ESP6500_GWAS_PUBMED,Number=.,Type=String,Description="PubMed records for GWAS hits">
##INFO=<ID=ESP6500_AA_AGE,Number=.,Type=String,Description="Esitmated Variant Age in kilo years for the African American Population">
##INFO=<ID=ESP6500_GS,Number=.,Type=String,Description="granthamScore">
##INFO=<ID=ESP6500_GTC,Number=.,Type=String,Description="Total Genotype Counts in the order of listed GTS">
##INFO=<ID=ESP6500_PH,Number=.,Type=String,Description="polyPhen2 result including prediction class and score">
##INFO=<ID=ESP6500_AA_GTC,Number=.,Type=String,Description="African American Genotype Counts in the order of listed GTS">
##SnpSiftCmd="SnpSift Annotate -name CLINVAR_ /garnet/Tools/WES_Analysis/GATK_Analysis/AnnoDB/hg38/clinvar/clinvar_20180729.vcf.gz /garnet/Analysis/BI/Exome/HN00136338/Analysis_v4_hg38/WES08-Paw/VARIANT/in.vcf"
##INFO=<ID=CLINVAR_DBVARID,Number=.,Type=String,Description="nsv accessions from dbVar for the variant">
##INFO=<ID=CLINVAR_ALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID">
##INFO=<ID=CLINVAR_CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant">
##INFO=<ID=CLINVAR_CLNVCSO,Number=1,Type=String,Description="Sequence Ontology id for variant type">
##INFO=<ID=CLINVAR_CLNREVSTAT,Number=.,Type=String,Description="ClinVar review status for the Variation ID">
##INFO=<ID=CLINVAR_RS,Number=.,Type=String,Description="dbSNP ID (i.e. rs number)">
##INFO=<ID=CLINVAR_CLNDNINCL,Number=.,Type=String,Description="For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB">
##INFO=<ID=CLINVAR_ORIGIN,Number=.,Type=String,Description="Allele origin. One or more of the following values may be added: 0 - unknown; 1 - germline; 2 - somatic; 4 - inherited; 8 - paternal; 16 - maternal; 32 - de-novo; 64 - biparental; 128 - uniparental; 256 - not-tested; 512 - tested-inconclusive; 1073741824 - other">
##INFO=<ID=CLINVAR_MC,Number=.,Type=String,Description="comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence">
##INFO=<ID=CLINVAR_CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB">
##INFO=<ID=CLINVAR_CLNVC,Number=1,Type=String,Description="Variant type">
##INFO=<ID=CLINVAR_CLNVI,Number=.,Type=String,Description="the variant's clinical sources reported as tag-value pairs of database and variant identifier">
##INFO=<ID=CLINVAR_AF_EXAC,Number=1,Type=Float,Description="allele frequencies from ExAC">
##INFO=<ID=CLINVAR_AF_ESP,Number=1,Type=Float,Description="allele frequencies from GO-ESP">
##INFO=<ID=CLINVAR_CLNSIGINCL,Number=.,Type=String,Description="Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance.">
##INFO=<ID=CLINVAR_CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN">
##INFO=<ID=CLINVAR_GENEINFO,Number=1,Type=String,Description="Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)">
##INFO=<ID=CLINVAR_CLNDISDBINCL,Number=.,Type=String,Description="For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN">
##INFO=<ID=CLINVAR_AF_TGP,Number=1,Type=Float,Description="allele frequencies from TGP">
##INFO=<ID=CLINVAR_CLNSIGCONF,Number=.,Type=String,Description="Conflicting clinical significance for this single variant">
##INFO=<ID=CLINVAR_CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.">
##INFO=<ID=CLINVAR_SSR,Number=1,Type=Integer,Description="Variant Suspect Reason Codes. One or more of the following values may be added: 0 - unspecified, 1 - Paralog, 2 - byEST, 4 - oldAlign, 8 - Para_EST, 16 - 1kg_failed, 1024 - other">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	WES08-Paw
chr1	15903	rs557514207	G	GC	69.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.74;QD=23.08;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=142;ANN=GC|downstream_gene_variant|MODIFIER|DDX11L1|DDX11L1|transcript|NR_046018.2|pseudogene||n.*1494_*1495insC|||||1495|,GC|downstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1|transcript|NR_106918.1|pseudogene||n.*1465dupG|||||1465|,GC|downstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2|transcript|NR_107062.1|pseudogene||n.*1465dupG|||||1465|,GC|downstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3|transcript|NR_107063.1|pseudogene||n.*1465dupG|||||1465|,GC|downstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4|transcript|NR_128720.1|pseudogene||n.*1465dupG|||||1465|,GC|non_coding_transcript_exon_variant|MODIFIER|WASH7P|WASH7P|transcript|NR_024540.1|pseudogene|9/11|n.1124dupG||||||;p3_1000G_AA=ccc|CC|CCC|deletion;p3_1000G_AC=2209;p3_1000G_AF=0.441094;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=7012;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.4652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15903;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:106,9,0
chr1	17365	rs369606208	C	G	148.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.57;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=8.625;MLEAC=1;MLEAF=0.5;MQ=37.67;MQRankSum=0.878;QD=5.95;ReadPosRankSum=0.036;SOR=2.973;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369606208;dbSNPBuildID=138;ANN=G|downstream_gene_variant|MODIFIER|DDX11L1|DDX11L1|transcript|NR_046018.2|pseudogene||n.*2956C>G|||||2956|,G|downstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1|transcript|NR_106918.1|pseudogene||n.*4G>C|||||4|,G|downstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2|transcript|NR_107062.1|pseudogene||n.*4G>C|||||4|,G|downstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3|transcript|NR_107063.1|pseudogene||n.*4G>C|||||4|,G|downstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4|transcript|NR_128720.1|pseudogene||n.*4G>C|||||4|,G|non_coding_transcript_exon_variant|MODIFIER|WASH7P|WASH7P|transcript|NR_024540.1|pseudogene|6/11|n.591G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,6:25:99:0|1:17365_C_G:177,0,580
chr1	17614	rs201057270	G	A	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.715;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.91;MQRankSum=-0.61;QD=3.16;ReadPosRankSum=-1.247;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201057270;dbSNPBuildID=137;ANN=A|upstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1|transcript|NR_106918.1|pseudogene||n.-178C>T|||||178|,A|upstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2|transcript|NR_107062.1|pseudogene||n.-178C>T|||||178|,A|upstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3|transcript|NR_107063.1|pseudogene||n.-178C>T|||||178|,A|upstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4|transcript|NR_128720.1|pseudogene||n.-178C>T|||||178|,A|downstream_gene_variant|MODIFIER|DDX11L1|DDX11L1|transcript|NR_046018.2|pseudogene||n.*3205G>A|||||3205|,A|non_coding_transcript_exon_variant|MODIFIER|WASH7P|WASH7P|transcript|NR_024540.1|pseudogene|5/11|n.579C>T||||||	GT:AD:DP:GQ:PL	0/1:23,7:30:99:123,0,723
chr1	69270	rs201219564	A	G	583.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=28.64;QD=29.19;SOR=6.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201219564;dbSNPBuildID=137;ANN=G|synonymous_variant|LOW|OR4F5|OR4F5|transcript|NM_001005484.1|protein_coding|1/1|c.180A>G|p.Ser60Ser|180/918|180/918|60/305||	GT:AD:DP:GQ:PL	1/1:0,20:20:60:612,60,0
chr1	69511	rs2691305;rs75062661	A	G	4164.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=138;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.05;QD=30.4;SOR=0.864;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75062661;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|OR4F5|OR4F5|transcript|NM_001005484.1|protein_coding|1/1|c.421A>G|p.Thr141Ala|421/918|421/918|141/305||;ESP6500_AA=G;ESP6500_AA_AC=1937,1623;ESP6500_AA_GTC=784,369,627;ESP6500_CDS_SIZES=NM_001005484.1:918;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=69;ESP6500_EA_AC=5337,677;ESP6500_EA_GTC=2430,477,100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005484.1:missense;ESP6500_GL=OR4F5;ESP6500_GRCh38_POSITION=1:69511;ESP6500_GS=58;ESP6500_GTC=3214,846,727;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001005484.1:c.421A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001005484.1:p.(T141A);ESP6500_MAF=11.2571,45.5899,24.0234;ESP6500_PH=benign:0.0;ESP6500_TAC=7274,2300	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4193,411,0
chr1	69849	rs776815449	G	A	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.936;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.726;MLEAC=1;MLEAF=0.5;MQ=28.79;MQRankSum=-0.977;QD=0.87;ReadPosRankSum=0.164;SOR=2.819;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|stop_gained|HIGH|OR4F5|OR4F5|transcript|NM_001005484.1|protein_coding|1/1|c.759G>A|p.Trp253*|759/918|759/918|253/305||	GT:AD:DP:GQ:PL	0/1:13,3:16:42:42,0,363
chr1	69897	rs200676709	T	C	231.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.256;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=9.874;MLEAC=1;MLEAF=0.5;MQ=27.2;MQRankSum=1.31;QD=13.63;ReadPosRankSum=1.17;SOR=0.03;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200676709;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|OR4F5|OR4F5|transcript|NM_001005484.1|protein_coding|1/1|c.807T>C|p.Ser269Ser|807/918|807/918|269/305||;p3_1000G_AA=.|||;p3_1000G_AC=3446;p3_1000G_AF=0.688099;p3_1000G_AFR_AF=0.407;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=22289;p3_1000G_EAS_AF=0.876;p3_1000G_EUR_AF=0.7942;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69897;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8098;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:260,0,157
chr1	129285	rs372768449	G	A	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs372768449;dbSNPBuildID=138;ANN=A|intergenic_region|MODIFIER|OR4F5-LOC729737|OR4F5-LOC729737|intergenic_region|OR4F5-LOC729737|||n.129285G>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	183937	rs1169172101	G	A	89.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.491;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.891;MLEAC=1;MLEAF=0.5;MQ=37.91;MQRankSum=-1.651;QD=3.32;ReadPosRankSum=1.35;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|downstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.*3954C>T|||||3954|,A|downstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.*3954C>T|||||3954|,A|downstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.*3954C>T|||||3954|,A|downstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.*3954C>T|||||3954|,A|intergenic_region|MODIFIER|LOC729737-MIR6859-1|LOC729737-MIR6859-1.2|intergenic_region|LOC729737-MIR6859-1.2|||n.183937G>A||||||	GT:AD:DP:GQ:PL	0/1:20,7:27:99:118,0,616
chr1	185336	rs1382628930	C	T	21.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|downstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.*2555G>A|||||2555|,T|downstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.*2555G>A|||||2555|,T|downstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.*2555G>A|||||2555|,T|downstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.*2555G>A|||||2555|,T|intergenic_region|MODIFIER|LOC729737-MIR6859-1|LOC729737-MIR6859-1.2|intergenic_region|LOC729737-MIR6859-1.2|||n.185336C>T||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	186536	rs1173708491	C	T	46.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37.61;MQRankSum=-1.006;QD=4.68;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|downstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.*1355G>A|||||1355|,T|downstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.*1355G>A|||||1355|,T|downstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.*1355G>A|||||1355|,T|downstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.*1355G>A|||||1355|,T|intergenic_region|MODIFIER|LOC729737-MIR6859-1|LOC729737-MIR6859-1.2|intergenic_region|LOC729737-MIR6859-1.2|||n.186536C>T||||||	GT:AD:DP:GQ:PL	0/1:6,4:10:75:75,0,213
chr1	187485	rs1423991279	G	A	1685.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.07;QD=25.36;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|downstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.*406C>T|||||406|,A|downstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.*406C>T|||||406|,A|downstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.*406C>T|||||406|,A|downstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.*406C>T|||||406|,A|intergenic_region|MODIFIER|LOC729737-MIR6859-1|LOC729737-MIR6859-1.2|intergenic_region|LOC729737-MIR6859-1.2|||n.187485G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,44:44:99:1|1:187485_G_A:1714,138,0
chr1	187497	rs1315127023	G	A	684.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.127;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.21;MLEAC=1;MLEAF=0.5;MQ=35.22;MQRankSum=-0.969;QD=13.7;ReadPosRankSum=-1.138;SOR=0.476;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|downstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.*394C>T|||||394|,A|downstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.*394C>T|||||394|,A|downstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.*394C>T|||||394|,A|downstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.*394C>T|||||394|,A|intergenic_region|MODIFIER|LOC729737-MIR6859-1|LOC729737-MIR6859-1.2|intergenic_region|LOC729737-MIR6859-1.2|||n.187497G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,33:50:99:0|1:187485_G_A:713,0,276
chr1	187744	rs1430171341	A	G	162.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=22.58;QD=23.26;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|downstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.*147T>C|||||147|,G|downstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.*147T>C|||||147|,G|downstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.*147T>C|||||147|,G|downstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.*147T>C|||||147|,G|intergenic_region|MODIFIER|LOC729737-MIR6859-1|LOC729737-MIR6859-1.2|intergenic_region|LOC729737-MIR6859-1.2|||n.187744A>G||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:191,21,0
chr1	188138	rs1350499504	G	A	30.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.891;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=24.57;MQRankSum=0.996;QD=2.56;ReadPosRankSum=2.19;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|upstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.-180C>T|||||180|,A|upstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.-180C>T|||||180|,A|upstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.-180C>T|||||180|,A|upstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.-180C>T|||||180|,A|intergenic_region|MODIFIER|MIR6859-1-FAM138D|MIR6859-1.2-FAM138D|intergenic_region|MIR6859-1.2-FAM138D|||n.188138G>A||||||	GT:AD:DP:GQ:PL	0/1:8,4:12:59:59,0,192
chr1	188246	rs1233362960	A	G	181.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=23.81;MQRankSum=0.93;QD=9.09;ReadPosRankSum=1.03;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|upstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.-288T>C|||||288|,G|upstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.-288T>C|||||288|,G|upstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.-288T>C|||||288|,G|upstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.-288T>C|||||288|,G|intergenic_region|MODIFIER|MIR6859-1-FAM138D|MIR6859-1.2-FAM138D|intergenic_region|MIR6859-1.2-FAM138D|||n.188246A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,6:20:99:0|1:188246_A_G:210,0,562
chr1	188254	rs1206927861	C	A	181.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.402;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=23.81;MQRankSum=0.93;QD=9.09;ReadPosRankSum=1.68;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|upstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.-296G>T|||||296|,A|upstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.-296G>T|||||296|,A|upstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.-296G>T|||||296|,A|upstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.-296G>T|||||296|,A|intergenic_region|MODIFIER|MIR6859-1-FAM138D|MIR6859-1.2-FAM138D|intergenic_region|MIR6859-1.2-FAM138D|||n.188254C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,6:20:99:0|1:188246_A_G:210,0,562
chr1	188329	rs1467557112	T	C	78.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=21.75;QD=19.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|upstream_gene_variant|MODIFIER|MIR6859-1|MIR6859-1.2|transcript|NR_106918.1.2|pseudogene||n.-371A>G|||||371|,C|upstream_gene_variant|MODIFIER|MIR6859-2|MIR6859-2.2|transcript|NR_107062.1.2|pseudogene||n.-371A>G|||||371|,C|upstream_gene_variant|MODIFIER|MIR6859-3|MIR6859-3.2|transcript|NR_107063.1.2|pseudogene||n.-371A>G|||||371|,C|upstream_gene_variant|MODIFIER|MIR6859-4|MIR6859-4.2|transcript|NR_128720.1.2|pseudogene||n.-371A>G|||||371|,C|intergenic_region|MODIFIER|MIR6859-1-FAM138D|MIR6859-1.2-FAM138D|intergenic_region|MIR6859-1.2-FAM138D|||n.188329T>C||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:106,12,0
chr1	930939	rs9988021	G	A	572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.27;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9988021;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding|3/13|c.255-100G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=4775;p3_1000G_AF=0.953474;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=15665;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=866319;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:601,63,0
chr1	931131	rs375757231;rs60722469	C	CCCCT	75.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0;SOR=1.022;INS;HET;VARTYPE=INS;dbSNP138_ID=rs60722469;dbSNPBuildID=138,129;ANN=CCCCT|intron_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding|4/13|c.305+54_305+57dupTCCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=13303;p3_1000G_EAS_AF=0.1319;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=866511;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,3:5:99:113,0,102
chr1	935954	rs4072383	G	T	485.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.923;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=-0.862;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4072383;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding|5/13|c.430+58G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2493;p3_1000G_AF=0.497804;p3_1000G_AFR_AF=0.1982;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=12318;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.7097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=871334;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,18:26:99:514,0,192
chr1	941119	rs4372192	A	G	533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4372192;dbSNPBuildID=123;ANN=G|downstream_gene_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding||c.*3575T>C|||||3084|,G|intron_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding|7/13|c.707-25A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4573;p3_1000G_AF=0.913139;p3_1000G_AFR_AF=0.8737;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=13739;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=876499;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3853,509;ESP6500_AA_GTC=1713,427,41;ESP6500_CDS_SIZES=NM_152486.2:2046;ESP6500_CG=0.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=9;ESP6500_EA_AC=8004,532;ESP6500_EA_GTC=3774,456,38;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152486.2:intron;ESP6500_GL=SAMD11;ESP6500_GRCh38_POSITION=1:941119;ESP6500_GTC=5487,883,79;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152486.2:c.707-25A>G;ESP6500_MAF=6.2324,11.669,8.071;ESP6500_TAC=11857,1041	GT:AD:DP:GQ:PL	1/1:0,15:15:45:562,45,0
chr1	942335	rs6605066	C	G	53.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6605066;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding||c.*2359G>C|||||1868|,G|intron_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding|9/13|c.986-75C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=4447;p3_1000G_AF=0.887979;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=6485;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=877715;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:81,6,0
chr1	942451	rs6672356	T	C	54.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6672356;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding|10/14|c.1027T>C|p.Trp343Arg|1107/2554|1027/2046|343/681||,C|downstream_gene_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding||c.*2243A>G|||||1752|;p3_1000G_AA=N|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=6579;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=877831;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:82,6,0
chr1	943526	rs767613319	CTTTT	C	73.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.42;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|downstream_gene_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding||c.*1164_*1167delAAAA|||||676|,C|intron_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding|12/13|c.1690-153_1690-150delTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:110,9,0
chr1	944858	rs3748592	A	G	1592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748592;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding||c.*705A>G|||||277|,G|intron_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|18/18|c.2144-58T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4612;p3_1000G_AF=0.920927;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=16897;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=880238;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1621,146,0
chr1	946247	rs2272757	G	A	2381.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=1.678;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272757;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|16/19|c.1843C>T|p.Leu615Leu|1902/2800|1843/2250|615/749||,A|downstream_gene_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding||c.*2094G>A|||||1666|;p3_1000G_AA=g|||;p3_1000G_AC=2213;p3_1000G_AF=0.441893;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=17460;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.6332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=881627;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=688,3716;ESP6500_AA_AGE=285.5+/-278.2;ESP6500_AA_GTC=47,594,1561;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=5.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=5486,3114;ESP6500_EA_AGE=654.8+/-401.2;ESP6500_EA_GTC=1721,2044,535;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015658.3:coding-synonymous;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:946247;ESP6500_GTC=1768,2638,2096;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.1843C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015658.3:p.(L615);ESP6500_MAF=36.2093,15.6222,47.4777;ESP6500_TAC=6174,6830	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2410,207,0
chr1	948245	rs4970378	A	G	1033.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.418;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970378;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding||c.*4092A>G|||||3664|,G|intron_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|13/18|c.1558-13T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16044;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=883625;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4374,2;ESP6500_AA_GTC=2186,2,0;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=23;ESP6500_EA_AC=8576,0;ESP6500_EA_GTC=4288,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015658.3:intron;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:948245;ESP6500_GTC=6474,2,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.1558-13T>C;ESP6500_MAF=0.0,0.0457,0.0154;ESP6500_TAC=12950,2	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1062,102,0
chr1	948711	rs60085302;rs775427240	C	CACCCTGGTCCCCCTGGTCCCTTTGGCCCTGCACCTGGCTGG	853.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs60085302;dbSNPBuildID=144,129;ANN=CACCCTGGTCCCCCTGGTCCCTTTGGCCCTGCACCTGGCTGG|downstream_gene_variant|MODIFIER|SAMD11|SAMD11|transcript|NM_152486.2|protein_coding||c.*4558_*4559insACCCTGGTCCCCCTGGTCCCTTTGGCCCTGCACCTGGCTGG|||||4131|,CACCCTGGTCCCCCTGGTCCCTTTGGCCCTGCACCTGGCTGG|intron_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|12/18|c.1444-109_1444-108insCCAGCCAGGTGCAGGGCCAAAGGGACCAGGGGGACCAGGGT||||||	GT:AD:DP:GQ:PL	1/1:0,19:19:62:891,62,0
chr1	951408	rs10465242	G	A	219.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10465242;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|11/18|c.1332-170C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3551;p3_1000G_AF=0.709065;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=16459;p3_1000G_EAS_AF=0.7103;p3_1000G_EUR_AF=0.8986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=886788;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:248,21,0
chr1	951437	rs10465241;rs111748052	C	T	92.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.01;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10465241;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|11/18|c.1332-199G>A||||||;p3_1000G_AC=3554;p3_1000G_AF=0.709665;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=16423;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.9006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=886817;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:120,12,0
chr1	952180	rs3748595	A	C	1175.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.59;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748595;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|10/18|c.1192-41T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4506;p3_1000G_AF=0.89976;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=20340;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9483;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=887560;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3662,744;ESP6500_AA_AGE=299.0+/-285.6;ESP6500_AA_GTC=1524,614,65;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=41;ESP6500_EA_AC=8021,579;ESP6500_EA_AGE=152.2+/-206.8;ESP6500_EA_GTC=3751,519,30;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015658.3:intron;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:952180;ESP6500_GTC=5275,1133,95;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.1192-41T>G;ESP6500_MAF=6.7326,16.8861,10.1722;ESP6500_TAC=11683,1323	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1204,105,0
chr1	952421	rs3828047	A	G	2430.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3828047;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|10/19|c.1182T>C|p.Thr394Thr|1241/2800|1182/2250|394/749||;p3_1000G_AA=G|||;p3_1000G_AC=4619;p3_1000G_AF=0.922324;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=17588;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=887801;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3992,414;ESP6500_AA_AGE=202.8+/-225.5;ESP6500_AA_GTC=1807,378,18;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=44;ESP6500_EA_AC=8070,530;ESP6500_EA_AGE=147.3+/-202.7;ESP6500_EA_GTC=3797,476,27;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015658.3:coding-synonymous;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:952421;ESP6500_GTC=5604,854,45;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.1182T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015658.3:p.(T394);ESP6500_MAF=6.1628,9.3963,7.2582;ESP6500_TAC=12062,944	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2459,216,0
chr1	953259	rs3748596	T	C	643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748596;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|9/19|c.918A>G|p.Glu306Glu|977/2800|918/2250|306/749||;p3_1000G_AA=C|||;p3_1000G_AC=4621;p3_1000G_AF=0.922724;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=17541;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9533;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=888639;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3991,415;ESP6500_AA_AGE=203.5+/-225.9;ESP6500_AA_GTC=1807,377,19;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=1.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=59;ESP6500_EA_AC=8069,531;ESP6500_EA_AGE=147.3+/-202.7;ESP6500_EA_GTC=3797,475,28;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015658.3:coding-synonymous;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:953259;ESP6500_GTC=5604,852,47;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.918A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015658.3:p.(E306);ESP6500_MAF=6.1744,9.419,7.2736;ESP6500_TAC=12060,946	GT:AD:DP:GQ:PL	1/1:0,21:21:63:672,63,0
chr1	953279	rs3748597	T	C	621.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.24;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748597;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|9/19|c.898A>G|p.Ile300Val|957/2800|898/2250|300/749||;p3_1000G_AA=C|||;p3_1000G_AC=4621;p3_1000G_AF=0.922724;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=17128;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9533;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=888659;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3989,415;ESP6500_AA_AGE=203.1+/-225.7;ESP6500_AA_GTC=1806,377,19;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=4.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=47;ESP6500_EA_AC=8070,530;ESP6500_EA_AGE=147.1+/-202.6;ESP6500_EA_GTC=3797,476,27;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015658.3:missense;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:953279;ESP6500_GS=29;ESP6500_GTC=5603,853,46;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.898A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015658.3:p.(I300V);ESP6500_MAF=6.1628,9.4233,7.267;ESP6500_PH=benign:0.0;ESP6500_TAC=12059,945	GT:AD:DP:GQ:PL	1/1:0,17:17:51:650,51,0
chr1	953778	rs13303056;rs56262069	G	C	1178.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.2;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13303056;dbSNPBuildID=121;ANN=C|splice_region_variant&intron_variant|LOW|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|8/18|c.888+4C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4529;p3_1000G_AF=0.904353;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=17047;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.9523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=889158;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3628,776;ESP6500_AA_GTC=1528,572,102;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=26;ESP6500_EA_AC=8023,573;ESP6500_EA_GTC=3794,435,69;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015658.3:intron;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:953778;ESP6500_GTC=5322,1007,171;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.888+4C>G;ESP6500_MAF=6.6659,17.6203,10.3769;ESP6500_TAC=11651,1349	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:81:1|1:953778_G_C:1207,81,0
chr1	953779	rs13302945	A	C	1178.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25;SOR=2.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13302945;dbSNPBuildID=121;ANN=C|splice_region_variant&intron_variant|LOW|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|8/18|c.888+3T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4529;p3_1000G_AF=0.904353;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=16928;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.9523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=889159;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3626,778;ESP6500_AA_GTC=1526,574,102;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=27;ESP6500_EA_AC=8014,582;ESP6500_EA_GTC=3795,424,79;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015658.3:intron;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:953779;ESP6500_GTC=5321,998,181;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.888+3T>G;ESP6500_MAF=6.7706,17.6658,10.4615;ESP6500_TAC=11640,1360	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:953778_G_C:1207,81,0
chr1	957365	rs13303227	G	A	309.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.16;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13303227;dbSNPBuildID=121;ANN=A|sequence_feature|MODERATE|NOC2L|NOC2L|modified-residue:phosphoserine|NM_015658.3|protein_coding|2/18|c.180-92C>T||||||,A|upstream_gene_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding||c.-3329G>A|||||3222|,A|intron_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|2/18|c.180-92C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4611;p3_1000G_AF=0.920727;p3_1000G_AFR_AF=0.9002;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=18202;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=892745;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:338,33,0
chr1	959193	rs13303010	G	A	1354.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=1.455;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13303010;dbSNPBuildID=121;ANN=A|upstream_gene_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding||c.-1501G>A|||||1394|,A|intron_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding|1/18|c.26+22C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3177;p3_1000G_AF=0.634385;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=12156;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.9016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=894573;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1243,3125;ESP6500_AA_GTC=173,897,1114;ESP6500_CDS_SIZES=NM_015658.3:2250;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=24;ESP6500_EA_AC=7685,883;ESP6500_EA_GTC=3451,783,50;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015658.3:intron;ESP6500_GL=NOC2L;ESP6500_GRCh38_POSITION=1:959193;ESP6500_GTC=3624,1680,1164;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015658.3:c.26+22C>T;ESP6500_MAF=10.3058,28.457,30.9833;ESP6500_TAC=8928,4008	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1383,129,0
chr1	961945	rs4970441	G	C	1990.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=1.573;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970441;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|4/12|c.609G>C|p.Ala203Ala|716/2564|609/1929|203/642||,C|upstream_gene_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding||c.-2705C>G|||||2646|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-4587G>C|||||4552|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-4587G>C|||||4552|;p3_1000G_AA=G|||;p3_1000G_AC=4303;p3_1000G_AF=0.859225;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=15081;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.9433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=897325;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3204,1200;ESP6500_AA_AGE=701.6+/-406.8;ESP6500_AA_GTC=1165,874,163;ESP6500_CDS_SIZES=NM_198317.2:1929;ESP6500_CG=-9.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=65;ESP6500_EA_AC=7965,635;ESP6500_EA_AGE=786.7+/-407.6;ESP6500_EA_GTC=3698,569,33;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198317.2:coding-synonymous;ESP6500_GL=KLHL17;ESP6500_GRCh38_POSITION=1:961945;ESP6500_GTC=4863,1443,196;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_198317.2:c.609G>C;ESP6500_HGVS_PROTEIN_VAR=NM_198317.2:p.(A203);ESP6500_MAF=7.3837,27.248,14.111;ESP6500_TAC=11169,1835	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2019,189,0
chr1	962184	rs13303229	T	C	226.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13303229;dbSNPBuildID=121;ANN=C|upstream_gene_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding||c.-2944A>G|||||2885|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-4348T>C|||||4313|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-4348T>C|||||4313|,C|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|4/11|c.711+137T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4507;p3_1000G_AF=0.89996;p3_1000G_AFR_AF=0.8298;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=12963;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.9503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=897564;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:255,18,0
chr1	962943	rs6605071	T	C	1636.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6605071;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|NOC2L|NOC2L|transcript|NM_015658.3|protein_coding||c.-3703A>G|||||3644|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-3589T>C|||||3554|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-3589T>C|||||3554|,C|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|6/11|c.1042+26T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4642;p3_1000G_AF=0.926917;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=15007;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=898323;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3992,318;ESP6500_AA_GTC=1847,298,10;ESP6500_CDS_SIZES=NM_198317.2:1929;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=14;ESP6500_EA_AC=8018,504;ESP6500_EA_GTC=3781,456,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198317.2:intron;ESP6500_GL=KLHL17;ESP6500_GRCh38_POSITION=1:962943;ESP6500_GTC=5628,754,34;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198317.2:c.1042+26T>C;ESP6500_MAF=5.9141,7.3782,6.4059;ESP6500_TAC=12010,822	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1665,135,0
chr1	964548	rs6677386	G	C	745.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6677386;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1984G>C|||||1949|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1984G>C|||||1949|,C|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1700+18G>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4151;p3_1000G_AF=0.828874;p3_1000G_AFR_AF=0.5809;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=8128;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.9414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=899928;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2615,849;ESP6500_AA_GTC=988,639,105;ESP6500_CDS_SIZES=NM_198317.2:1929;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=6;ESP6500_EA_AC=6481,467;ESP6500_EA_GTC=3031,419,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198317.2:intron;ESP6500_GL=KLHL17;ESP6500_GRCh38_POSITION=1:964548;ESP6500_GTC=4019,1058,129;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_198317.2:c.1700+18G>C;ESP6500_MAF=6.7214,24.5092,12.6393;ESP6500_TAC=9096,1316	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:964548_G_C:774,57,0
chr1	964557	rs143296006	G	T	671.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.8;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs143296006;dbSNPBuildID=134;ANN=T|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1975G>T|||||1940|,T|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1975G>T|||||1940|,T|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1700+27G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4167;p3_1000G_AF=0.832069;p3_1000G_AFR_AF=0.612;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=6272;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.9195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=899937;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2305,815;ESP6500_AA_GTC=839,627,94;ESP6500_CDS_SIZES=NM_198317.2:1929;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=5;ESP6500_EA_AC=5805,435;ESP6500_EA_GTC=2721,363,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198317.2:intron;ESP6500_GL=KLHL17;ESP6500_GRCh38_POSITION=1:964557;ESP6500_GTC=3560,990,130;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_198317.2:c.1700+27G>T;ESP6500_MAF=6.9712,26.1218,13.3547;ESP6500_TAC=8110,1250	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:48:1|1:964548_G_C:700,48,0
chr1	964558	rs147467971	G	C	671.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs147467971;dbSNPBuildID=134;ANN=C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1974G>C|||||1939|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1974G>C|||||1939|,C|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1700+28G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4167;p3_1000G_AF=0.832069;p3_1000G_AFR_AF=0.612;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=6492;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.9195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=899938;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:48:1|1:964548_G_C:700,48,0
chr1	964562	rs71509448	G	A	607.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71509448;dbSNPBuildID=130;ANN=A|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1970G>A|||||1935|,A|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1970G>A|||||1935|,A|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1700+32G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4019;p3_1000G_AF=0.802516;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.8646;p3_1000G_AN=5008;p3_1000G_DP=6579;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.9155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=899942;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2296,784;ESP6500_AA_GTC=818,660,62;ESP6500_CDS_SIZES=NM_198317.2:1929;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=5;ESP6500_EA_AC=5857,393;ESP6500_EA_GTC=2752,353,20;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198317.2:intron;ESP6500_GL=KLHL17;ESP6500_GRCh38_POSITION=1:964562;ESP6500_GTC=3570,1013,82;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198317.2:c.1700+32G>A;ESP6500_MAF=6.288,25.4545,12.6152;ESP6500_TAC=8153,1177	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:45:1|1:964548_G_C:636,45,0
chr1	964609	rs6669071	A	C	107.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6669071;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1923A>C|||||1888|,C|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1923A>C|||||1888|,C|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1700+79A>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=4199;p3_1000G_AF=0.838458;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=4892;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=899989;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:9:1|1:964548_G_C:135,9,0
chr1	964621	rs28754834	G	A	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28754834;dbSNPBuildID=131;ANN=A|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1911G>A|||||1876|,A|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1911G>A|||||1876|,A|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1700+91G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4051;p3_1000G_AF=0.808906;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=5267;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=900001;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:964548_G_C:90,6,0
chr1	964629	rs6704181	C	G	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6704181;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1903C>G|||||1868|,G|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1903C>G|||||1868|,G|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1700+99C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4051;p3_1000G_AF=0.808906;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=4579;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=900009;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:964548_G_C:90,6,0
chr1	964905	rs4970435	C	T	1581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=3.321;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970435;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1627C>T|||||1592|,T|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1627C>T|||||1592|,T|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1701-58C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3996;p3_1000G_AF=0.797923;p3_1000G_AFR_AF=0.4675;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=11308;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.9423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=900285;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:964905_C_T:1610,108,0
chr1	964906	rs4970434	A	G	1581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970434;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.-1626A>G|||||1591|,G|upstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.-1626A>G|||||1591|,G|intron_variant|MODIFIER|KLHL17|KLHL17|transcript|NM_198317.2|protein_coding|11/11|c.1701-57A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4655;p3_1000G_AF=0.929513;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=11332;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=900286;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,36:36:99:1|1:964905_C_T:1610,108,0
chr1	973010	rs148169601	G	A	59.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.131;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.52;ReadPosRankSum=0.458;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148169601;dbSNPBuildID=134;ANN=A|splice_region_variant&synonymous_variant|LOW|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding|11/16|c.1152G>A|p.Pro384Pro|1187/2400|1152/1836|384/611||,A|splice_region_variant&synonymous_variant|LOW|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding|11/15|c.1188G>A|p.Pro396Pro|1223/2295|1188/1731|396/576||,A|downstream_gene_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291366.1|protein_coding||c.*3162C>T|||||2189|,A|downstream_gene_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291367.1|protein_coding||c.*3162C>T|||||2189|;p3_1000G_AA=G|||;p3_1000G_AC=16;p3_1000G_AF=0.00319489;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14455;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=908390;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,5:17:88:88,0,334
chr1	973693	rs3892467	C	T	854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3892467;dbSNPBuildID=108;ANN=T|downstream_gene_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291366.1|protein_coding||c.*2479G>A|||||1506|,T|downstream_gene_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291367.1|protein_coding||c.*2479G>A|||||1506|,T|intron_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding|13/15|c.1434+53C>T||||||,T|intron_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding|12/14|c.1329+53C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2093;p3_1000G_AF=0.417931;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=16978;p3_1000G_EAS_AF=0.6409;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=909073;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:883,66,0
chr1	973858	rs3829740	G	C	605.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.23;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3829740;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding|14/16|c.1460G>C|p.Arg487Pro|1495/2400|1460/1836|487/611||,C|missense_variant|MODERATE|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding|13/15|c.1355G>C|p.Arg452Pro|1390/2295|1355/1731|452/576||,C|downstream_gene_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291366.1|protein_coding||c.*2314C>G|||||1341|,C|downstream_gene_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291367.1|protein_coding||c.*2314C>G|||||1341|;p3_1000G_AA=C|||;p3_1000G_AC=3889;p3_1000G_AF=0.776558;p3_1000G_AFR_AF=0.8169;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=15120;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=909238;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3431,963;ESP6500_AA_AGE=343.3+/-307.6;ESP6500_AA_GTC=1335,761,101;ESP6500_CDS_SIZES=NM_032129.2:1836,NM_001160184.1:1731;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=31;ESP6500_EA_AC=5009,3579;ESP6500_EA_AGE=498.1+/-374.7;ESP6500_EA_GTC=1490,2029,775;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032129.2:missense,NM_001160184.1:missense;ESP6500_GL=PLEKHN1;ESP6500_GRCh38_POSITION=1:973858;ESP6500_GS=103,103;ESP6500_GTC=2825,2790,876;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_032129.2:c.1460G>C,NM_001160184.1:c.1355G>C;ESP6500_HGVS_PROTEIN_VAR=NM_032129.2:p.(R487P),NM_001160184.1:p.(R452P);ESP6500_MAF=41.6744,21.9162,34.9869;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8440,4542	GT:AD:DP:GQ:PL	1/1:0,16:16:48:634,48,0
chr1	974388	rs2340593	A	G	1977.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2340593;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291366.1|protein_coding||c.*1784T>C|||||811|,G|downstream_gene_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291367.1|protein_coding||c.*1784T>C|||||811|,G|intron_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding|15/15|c.1702+24A>G||||||,G|intron_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding|14/14|c.1597+24A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=14394;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=909768;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4404,2;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=2201,2,0;ESP6500_CDS_SIZES=NM_032129.2:1836,NM_001160184.1:1731;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032129.2:intron,NM_001160184.1:intron;ESP6500_GL=PLEKHN1;ESP6500_GRCh38_POSITION=1:974388;ESP6500_GTC=6501,2,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032129.2:c.1702+24A>G,NM_001160184.1:c.1597+24A>G;ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_TAC=13004,2	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2006,186,0
chr1	976215	rs7417106	A	G	289.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7417106;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|4/4|c.2330T>C|p.Val777Ala|2401/3417|2330/2373|777/790||,G|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|5/5|c.2048T>C|p.Val683Ala|2048/3064|2048/2091|683/696||,G|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*1640A>G|||||1111|,G|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*1640A>G|||||1111|;p3_1000G_AA=A|||;p3_1000G_AC=3557;p3_1000G_AF=0.710264;p3_1000G_AFR_AF=0.4092;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=14471;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.7873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=911595;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:318,27,0
chr1	976669	rs7367995	T	C	347.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9803103;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*2094T>C|||||1565|,C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*2094T>C|||||1565|,C|intron_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|2/3|c.2150-45A>G||||||,C|intron_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|3/4|c.1868-45A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2597;p3_1000G_AF=0.51857;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=4930;p3_1000G_EAS_AF=0.7123;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=912049;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:976669_T_C:376,30,0
chr1	976723	rs7366480	G	A	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9803017;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*2148G>A|||||1619|,A|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*2148G>A|||||1619|,A|intron_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|2/3|c.2150-99C>T||||||,A|intron_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|3/4|c.1868-99C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:976669_T_C:180,12,0
chr1	978812	rs2340595	G	C	730.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2340595;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*4237G>C|||||3708|,C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*4237G>C|||||3708|,C|intron_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|2/3|c.2149+69C>G||||||,C|intron_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|3/4|c.1867+69C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4685;p3_1000G_AF=0.935503;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=14103;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=914192;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:759,66,0
chr1	978953	rs13302979	C	G	787.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13302979;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|2/4|c.2077G>C|p.Glu693Gln|2148/3417|2077/2373|693/790||,G|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|3/5|c.1795G>C|p.Glu599Gln|1795/3064|1795/2091|599/696||,G|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*4378C>G|||||3849|,G|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*4378C>G|||||3849|;p3_1000G_AA=G|||;p3_1000G_AC=2786;p3_1000G_AF=0.55631;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=12459;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=914333;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:816,69,0
chr1	979472	rs13303368	G	C	1254.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.85;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13303368;dbSNPBuildID=121;ANN=C|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|2/4|c.1558C>G|p.Gln520Glu|1629/3417|1558/2373|520/790||,C|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|3/5|c.1276C>G|p.Gln426Glu|1276/3064|1276/2091|426/696||,C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*4897G>C|||||4368|,C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*4897G>C|||||4368|;p3_1000G_AA=C|||;p3_1000G_AC=2567;p3_1000G_AF=0.51258;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=13116;p3_1000G_EAS_AF=0.7123;p3_1000G_EUR_AF=0.5994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=914852;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1283,108,0
chr1	979496	rs13302983	T	C	1233.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13302983;dbSNPBuildID=121;ANN=C|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|2/4|c.1534A>G|p.Ser512Gly|1605/3417|1534/2373|512/790||,C|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|3/5|c.1252A>G|p.Ser418Gly|1252/3064|1252/2091|418/696||,C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*4921T>C|||||4392|,C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*4921T>C|||||4392|;p3_1000G_AA=C|||;p3_1000G_AC=4842;p3_1000G_AF=0.966853;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=14587;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=914876;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1262,120,0
chr1	979560	rs13303033	T	C	1596.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13303033;dbSNPBuildID=121;ANN=C|synonymous_variant|LOW|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|2/4|c.1470A>G|p.Ala490Ala|1541/3417|1470/2373|490/790||,C|synonymous_variant|LOW|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|3/5|c.1188A>G|p.Ala396Ala|1188/3064|1188/2091|396/696||,C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*4985T>C|||||4456|,C|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*4985T>C|||||4456|;p3_1000G_AA=C|||;p3_1000G_AC=2552;p3_1000G_AF=0.509585;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=16059;p3_1000G_EAS_AF=0.7123;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=914940;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1625,162,0
chr1	979847	rs13303355	A	G	6441.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=186;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.63;SOR=1.796;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13303355;dbSNPBuildID=121;ANN=G|synonymous_variant|LOW|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|2/4|c.1183T>C|p.Leu395Leu|1254/3417|1183/2373|395/790||,G|synonymous_variant|LOW|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|3/5|c.901T>C|p.Leu301Leu|901/3064|901/2091|301/696||,G|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_032129.2|protein_coding||c.*5272A>G|||||4743|,G|downstream_gene_variant|MODIFIER|PLEKHN1|PLEKHN1|transcript|NM_001160184.1|protein_coding||c.*5272A>G|||||4743|;p3_1000G_AA=G|||;p3_1000G_AC=4598;p3_1000G_AF=0.918131;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=20521;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=915227;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,186:186:99:6470,558,0
chr1	981169	rs6660139	A	G	598.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6660139;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|PERM1|PERM1|transcript|NM_001291367.1|protein_coding|2/5|c.58T>C|p.Trp20Arg|58/3064|58/2091|20/696||,G|intron_variant|MODIFIER|PERM1|PERM1|transcript|NM_001291366.1|protein_coding|1/3|c.-18-122T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3799;p3_1000G_AF=0.758586;p3_1000G_AFR_AF=0.5998;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=16862;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=916549;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:627,54,0
chr1	999842	rs2298214	C	A	711.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2298214;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|HES4|HES4|transcript|NM_001142467.1|protein_coding|1/3|c.132G>T|p.Arg44Ser|331/1038|132/744|44/247||,A|intron_variant|MODIFIER|HES4|HES4|transcript|NM_021170.3|protein_coding|1/3|c.108+24G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2473;p3_1000G_AF=0.49381;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=6643;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=935222;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=455,2827;ESP6500_AA_GTC=81,293,1267;ESP6500_CDS_SIZES=NM_021170.3:666,NM_001142467.1:744;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=5;ESP6500_EA_AC=4195,3171;ESP6500_EA_GTC=1267,1661,755;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021170.3:intron,NM_001142467.1:missense;ESP6500_GL=HES4;ESP6500_GRCh38_POSITION=1:999842;ESP6500_GS=.,110;ESP6500_GTC=1348,1954,2022;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_021170.3:c.108+24G>T,NM_001142467.1:c.132G>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_001142467.1:p.(R44S);ESP6500_MAF=43.0491,13.8635,43.6702;ESP6500_PH=.,benign:0.011;ESP6500_TAC=4650,5998	GT:AD:DP:GQ:PL	1/1:0,25:25:75:740,75,0
chr1	1013466	rs3841266	T	TA	772.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3841266;dbSNPBuildID=107;ANN=TA|5_prime_UTR_variant|MODIFIER|ISG15|ISG15|transcript|NM_005101.3|protein_coding|1/2|c.-107dupA|||||106|INFO_REALIGN_3_PRIME;p3_1000G_AA=A|A|AA|insertion;p3_1000G_AC=4279;p3_1000G_AF=0.854433;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=16927;p3_1000G_EAS_AF=0.9464;p3_1000G_EUR_AF=0.9791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=948846;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9744;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:1013466_T_TA:810,54,0
chr1	1013490	rs4615788	C	G	883.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.61;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4615788;dbSNPBuildID=111;ANN=G|5_prime_UTR_variant|MODIFIER|ISG15|ISG15|transcript|NM_005101.3|protein_coding|1/2|c.-84C>G|||||84|;p3_1000G_AA=g|||;p3_1000G_AC=4522;p3_1000G_AF=0.902955;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=17018;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=948870;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1016,358;ESP6500_AA_GTC=377,262,48;ESP6500_CDS_SIZES=NM_005101.3:498;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=15;ESP6500_EA_AC=3015,141;ESP6500_EA_GTC=1444,127,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005101.3:utr-5;ESP6500_GL=ISG15;ESP6500_GRCh38_POSITION=1:1013490;ESP6500_GTC=1821,389,55;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005101.3:c.-84C>G;ESP6500_MAF=4.4677,26.0553,11.0155;ESP6500_TAC=4031,499	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,21:21:63:1|1:1013466_T_TA:912,63,0
chr1	1013541	rs15842	T	C	955.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs15842;dbSNPBuildID=52;ANN=C|5_prime_UTR_variant|MODIFIER|ISG15|ISG15|transcript|NM_005101.3|protein_coding|1/2|c.-33T>C|||||33|;p3_1000G_AA=C|||;p3_1000G_AC=4523;p3_1000G_AF=0.903155;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=17183;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9573;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=948921;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3294,1110;ESP6500_AA_AGE=393.5+/-328.9;ESP6500_AA_GTC=1231,832,139;ESP6500_CDS_SIZES=NM_005101.3:498;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=52;ESP6500_EA_AC=8223,375;ESP6500_EA_AGE=121.7+/-180.7;ESP6500_EA_GTC=3939,345,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005101.3:utr-5;ESP6500_GL=ISG15;ESP6500_GRCh38_POSITION=1:1013541;ESP6500_GTC=5170,1177,154;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005101.3:c.-33T>C;ESP6500_MAF=4.3615,25.2044,11.4213;ESP6500_TAC=11517,1485	GT:AD:DP:GQ:PL	1/1:0,29:29:87:984,87,0
chr1	1013855	rs2465124	G	A	528.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2465124;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ISG15|ISG15|transcript|NM_005101.3|protein_coding|1/1|c.4-129G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4506;p3_1000G_AF=0.89976;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=19053;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=949235;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:557,45,0
chr1	1014274	rs8997	A	G	3638.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=0.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8997;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|ISG15|ISG15|transcript|NM_005101.3|protein_coding|2/2|c.294A>G|p.Val98Val|401/666|294/498|98/165||;p3_1000G_AA=A|||;p3_1000G_AC=4135;p3_1000G_AF=0.825679;p3_1000G_AFR_AF=0.5083;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=17827;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.9453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=949654;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2526,1880;ESP6500_AA_AGE=618.6+/-393.2;ESP6500_AA_GTC=720,1086,397;ESP6500_CDS_SIZES=NM_005101.3:498;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=61;ESP6500_EA_AC=8142,456;ESP6500_EA_AGE=789.0+/-407.6;ESP6500_EA_GTC=3858,426,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005101.3:coding-synonymous;ESP6500_GL=ISG15;ESP6500_GRCh38_POSITION=1:1014274;ESP6500_GTC=4578,1512,412;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005101.3:c.294A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005101.3:p.(V98);ESP6500_MAF=5.3036,42.6691,17.9637;ESP6500_TAC=10668,2336	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3667,327,0
chr1	1041134	rs79290478	C	A	113.85	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.98;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs79290478;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|4/37|c.728-39C>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|4/35|c.728-39C>A||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:17:142,17,0
chr1	1041950	rs2799066;128292	T	C	592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2799066;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|6/37|c.1178-6T>C||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|splice_region_variant&intron_variant|LOW|AGRN|AGRN|transcript|NM_198576.3|protein_coding|6/35|c.1178-6T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4433;p3_1000G_AF=0.885184;p3_1000G_AFR_AF=0.6899;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=12121;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9245;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=977330;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3167,1235;ESP6500_AA_GTC=1140,887,174;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=31;ESP6500_EA_AC=7915,681;ESP6500_EA_GTC=3643,629,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:intron;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1041950;ESP6500_GTC=4783,1516,200;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.1178-6T>C;ESP6500_MAF=7.9223,28.0554,14.7407;ESP6500_TAC=11082,1916;CLINVAR_ALLELEID=133741;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1041950T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2799066	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:1041950_T_C:621,51,0
chr1	1042190	rs2710876;263159	G	A	1346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710876;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|7/37|c.1384+28G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|7/35|c.1384+28G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3977;p3_1000G_AF=0.794129;p3_1000G_AFR_AF=0.3896;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=16801;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=977570;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2083,2203;ESP6500_AA_GTC=513,1057,573;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=10;ESP6500_EA_AC=7804,682;ESP6500_EA_GTC=3602,600,41;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:intron;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1042190;ESP6500_GTC=4115,1657,614;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.1384+28G>A;ESP6500_MAF=8.0368,48.6001,22.5885;ESP6500_TAC=9887,2885;CLINVAR_ALLELEID=249309;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1042190G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2710876	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1375,132,0
chr1	1042400	rs2710875	C	T	67.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710875;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|7/37|c.1384+238C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|7/35|c.1384+238C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4039;p3_1000G_AF=0.80651;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=15986;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=977780;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:95,12,0
chr1	1043223	rs35881187;~rs35881187;263160	CCT	C	943.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.55;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35881187;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|7/37|c.1385-15_1385-14delCT||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|7/35|c.1385-15_1385-14delCT||||||;p3_1000G_AC=2400;p3_1000G_AF=0.479233;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=14705;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.5487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=978603;p3_1000G_GRCH37_REF=CCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=INDEL;ESP6500_AA_AC=478,3762;ESP6500_AA_GTC=25,428,1667;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=35;ESP6500_EA_AC=4505,3731;ESP6500_EA_GTC=1208,2089,821;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:intron;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1043223;ESP6500_GTC=1233,2517,2488;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.1385-15_1385-14del2;ESP6500_MAF=45.3011,11.2736,39.9407;ESP6500_TAC=4983,7493;CLINVAR_AF_ESP=0.3994;CLINVAR_AF_TGP=0.4792;CLINVAR_ALLELEID=249310;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1043224_1043225delCT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35881187	GT:AD:DP:GQ:PL	1/1:0,22:22:66:981,66,0
chr1	1045080	rs3128097	G	A	1507.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=1.132;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128097;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|12/37|c.2255-81G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|12/35|c.2255-81G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4567;p3_1000G_AF=0.911941;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=17907;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=980460;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1536,141,0
chr1	1045707	rs3128098;263172	A	G	777.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128098;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|14/37|c.2537-26A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|14/35|c.2537-26A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4354;p3_1000G_AF=0.869409;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=17548;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=981087;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2850,1556;ESP6500_AA_AGE=664.9+/-401.5;ESP6500_AA_GTC=918,1014,271;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=59;ESP6500_EA_AC=7972,628;ESP6500_EA_AGE=789.0+/-407.6;ESP6500_EA_GTC=3693,586,21;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:intron;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1045707;ESP6500_GTC=4611,1600,292;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.2537-26A>G;ESP6500_MAF=7.3023,35.3155,16.7922;ESP6500_TAC=10822,2184;CLINVAR_ALLELEID=249321;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1045707A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3128098	GT:AD:DP:GQ:PL	1/1:0,25:25:75:806,75,0
chr1	1046551	rs2465128;128297	A	G	2111.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.217;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.52;ReadPosRankSum=-0.585;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2465128;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|18/38|c.3066A>G|p.Ser1022Ser|3116/7392|3066/6204|1022/2067||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|synonymous_variant|LOW|AGRN|AGRN|transcript|NM_198576.3|protein_coding|18/36|c.3066A>G|p.Ser1022Ser|3116/7326|3066/6138|1022/2045||;p3_1000G_AA=A|||;p3_1000G_AC=3995;p3_1000G_AF=0.797724;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=10748;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.9125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=981931;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2316,2080;ESP6500_AA_GTC=611,1094,493;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=7819,775;ESP6500_EA_GTC=3553,713,31;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:coding-synonymous;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1046551;ESP6500_GTC=4164,1807,524;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.3066A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198576.3:p.(S1022);ESP6500_MAF=9.0179,47.3157,21.9784;ESP6500_TAC=10135,2855;CLINVAR_ALLELEID=133746;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1046551A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2465128	GT:AD:DP:GQ:PL	1/1:1,66:67:99:2140,164,0
chr1	1047561	rs3128102;263181	T	C	1300.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128102;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|20/37|c.3517-12T>C||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|20/35|c.3517-12T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4006;p3_1000G_AF=0.79992;p3_1000G_AFR_AF=0.4107;p3_1000G_AMR_AF=0.8991;p3_1000G_AN=5008;p3_1000G_DP=16147;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=982941;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2098,2308;ESP6500_AA_GTC=504,1090,609;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=37;ESP6500_EA_AC=7869,727;ESP6500_EA_GTC=3602,665,31;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:intron;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1047561;ESP6500_GTC=4106,1755,640;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.3517-12T>C;ESP6500_MAF=8.4574,47.6169,23.3426;ESP6500_TAC=9967,3035;CLINVAR_ALLELEID=249331;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1047561T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3128102	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1329,120,0
chr1	1047614	rs10267;128302	T	C	1274.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=0.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10267;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|21/38|c.3558T>C|p.Phe1186Phe|3608/7392|3558/6204|1186/2067||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|synonymous_variant|LOW|AGRN|AGRN|transcript|NM_198576.3|protein_coding|21/36|c.3558T>C|p.Phe1186Phe|3608/7326|3558/6138|1186/2045||;p3_1000G_AA=T|||;p3_1000G_AC=4186;p3_1000G_AF=0.835863;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=16246;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=982994;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2389,2017;ESP6500_AA_AGE=581.7+/-385.4;ESP6500_AA_GTC=657,1075,471;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-0.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=57;ESP6500_EA_AC=7901,699;ESP6500_EA_AGE=776.9+/-407.7;ESP6500_EA_GTC=3625,651,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:coding-synonymous;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1047614;ESP6500_GTC=4282,1726,495;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.3558T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198576.3:p.(F1186);ESP6500_MAF=8.1279,45.7785,20.8827;ESP6500_TAC=10290,2716;CLINVAR_ALLELEID=133751;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1047614T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10267	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1303,117,0
chr1	1048392	rs926457950	C	T	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.967;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|23/37|c.4105+27C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|23/35|c.4105+27C>T||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:31:60,0,31
chr1	1048767	rs199866572;rs569475810;rs57668569	CAAAAAAAAAAA	C	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.022;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57668569,rs199866572;dbSNPBuildID=142,137,129;ANN=C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|23/37|c.4106-88_4106-78delAAAAAAAAAAA||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|23/35|c.4106-88_4106-78delAAAAAAAAAAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4610;p3_1000G_AF=0.920527;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=10200;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.9742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=984147;p3_1000G_GRCH37_REF=CAAAAAAAAAAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:1048767_CAAAAAAAAAAA_C:225,15,0
chr1	1048791	rs140904842	CAG	C	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=1.022;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs140904842;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|23/37|c.4106-75_4106-74delAG||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|23/35|c.4106-75_4106-74delAG||||||;p3_1000G_AC=4610;p3_1000G_AF=0.920527;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=7127;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.9742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=984171;p3_1000G_GRCH37_REF=CAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:1048767_CAAAAAAAAAAA_C:225,15,0
chr1	1048922	rs9442391;128307	T	C	351.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.13;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9442391;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|24/38|c.4161T>C|p.Thr1387Thr|4211/7392|4161/6204|1387/2067||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|synonymous_variant|LOW|AGRN|AGRN|transcript|NM_198576.3|protein_coding|24/36|c.4161T>C|p.Thr1387Thr|4211/7326|4161/6138|1387/2045||;p3_1000G_AA=t|||;p3_1000G_AC=2733;p3_1000G_AF=0.545727;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=7123;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=984302;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1203,3103;ESP6500_AA_GTC=200,803,1150;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-7.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=7;ESP6500_EA_AC=4672,3832;ESP6500_EA_GTC=1339,1994,919;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:coding-synonymous;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1048922;ESP6500_GTC=1539,2797,2069;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.4161T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198576.3:p.(T1387);ESP6500_MAF=45.0611,27.9378,45.8626;ESP6500_TAC=5875,6935;CLINVAR_AF_ESP=0.4586;CLINVAR_ALLELEID=133756;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1048922T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9442391	GT:AD:DP:GQ:PL	1/1:0,14:14:42:380,42,0
chr1	1049886	rs2275813;263188	C	T	532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275813;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|26/37|c.4745-17C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|26/35|c.4745-17C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2480;p3_1000G_AF=0.495208;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=7769;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.5457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=985266;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=693,3681;ESP6500_AA_GTC=54,585,1548;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=4482,4010;ESP6500_EA_GTC=1186,2110,950;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:intron;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1049886;ESP6500_GTC=1240,2695,2498;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.4745-17C>T;ESP6500_MAF=47.2209,15.8436,40.2223;ESP6500_TAC=5175,7691;CLINVAR_AF_ESP=0.4022;CLINVAR_AF_TGP=0.4952;CLINVAR_ALLELEID=249338;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1049886C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2275813	GT:AD:DP:GQ:PL	1/1:0,16:16:48:561,48,0
chr1	1050063	rs71576592;rs774490460	AG	A	337.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.77;ReadPosRankSum=1.04;SOR=0.569;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs374942603,rs71576592;dbSNPBuildID=144,130;ANN=A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|27/37|c.4879+41delG||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|27/35|c.4879+41delG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,9:10:39:0|1:1050063_AG_A:375,0,39
chr1	1050067	rs769247508	G	T	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=34.68;ReadPosRankSum=0.967;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|27/37|c.4879+30G>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|27/35|c.4879+30G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,9:10:39:0|1:1050063_AG_A:375,0,39
chr1	1050070	rs397834473	G	A	427.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.443;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.23;ReadPosRankSum=0.632;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|27/37|c.4879+33G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|27/35|c.4879+33G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2236;p3_1000G_AF=0.446486;p3_1000G_AFR_AF=0.5514;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=6237;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.3797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=985450;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,10:11:33:0|1:1050063_AG_A:456,0,33
chr1	1050080	rs2275811	T	C	565.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.337;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.52;ReadPosRankSum=-0.217;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275811;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|27/37|c.4879+43T>C||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|27/35|c.4879+43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1455;p3_1000G_AF=0.290535;p3_1000G_AFR_AF=0.5598;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=6665;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.0388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=985460;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1211,2271;ESP6500_AA_GTC=142,927,672;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=3;ESP6500_EA_AC=228,7354;ESP6500_EA_GTC=2,224,3565;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:intron;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1050080;ESP6500_GTC=144,1151,4237;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.4879+43T>C;ESP6500_MAF=3.0071,34.7789,13.0061;ESP6500_TAC=1439,9625	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,15:16:21:0|1:1050063_AG_A:594,0,21
chr1	1051063	rs2710887	C	T	1034.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710887;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|30/37|c.5254-179C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|30/35|c.5254-190C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=3949;p3_1000G_AF=0.788538;p3_1000G_AFR_AF=0.3896;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=12280;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9135;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=986443;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:1051063_C_T:1063,105,0
chr1	1051820	rs9803031;128317	C	T	1955.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9803031;dbSNPBuildID=119;ANN=T|splice_region_variant&intron_variant|LOW|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|33/37|c.5660+5C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|splice_region_variant&intron_variant|LOW|AGRN|AGRN|transcript|NM_198576.3|protein_coding|33/35|c.5651+5C>T||||||,T|sequence_feature|LOW|AGRN|AGRN|miscellaneous-site:Alternative_splice_site_to_produce_'z'_isoforms|NM_198576.3|protein_coding|33/35|c.5651+5C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3950;p3_1000G_AF=0.788738;p3_1000G_AFR_AF=0.4017;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=15100;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=987200;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2016,2386;ESP6500_AA_AGE=558.3+/-380.0;ESP6500_AA_GTC=474,1068,659;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=100;ESP6500_EA_AC=7824,774;ESP6500_EA_AGE=782.6+/-407.6;ESP6500_EA_GTC=3549,726,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:intron;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1051820;ESP6500_GTC=4023,1794,683;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.5651+5C>T;ESP6500_MAF=9.0021,45.7974,24.3077;ESP6500_TAC=9840,3160;CLINVAR_ALLELEID=133766;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1051820C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9803031	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1984,186,0
chr1	1053552	rs2710871	G	C	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710871;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|AGRN|AGRN|miscellaneous-site:Alternative_splice_site_to_produce_'z'_isoforms|NM_198576.3|protein_coding|33/35|c.5652-201G>C||||||,C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|35/37|c.5717+59G>C||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|33/35|c.5652-201G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3883;p3_1000G_AF=0.775359;p3_1000G_AFR_AF=0.3835;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=16469;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=988932;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:463,36,0
chr1	1054900	rs4275402;128319	C	T	621.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4275402;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|38/38|c.6123C>T|p.Asp2041Asp|6173/7392|6123/6204|2041/2067||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|synonymous_variant|LOW|AGRN|AGRN|transcript|NM_198576.3|protein_coding|36/36|c.6057C>T|p.Asp2019Asp|6107/7326|6057/6138|2019/2045||;p3_1000G_AA=C|||;p3_1000G_AC=2931;p3_1000G_AF=0.585264;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=12314;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=990280;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1425,2865;ESP6500_AA_GTC=267,891,987;ESP6500_CDS_SIZES=NM_198576.3:6138;ESP6500_CG=-6.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=14;ESP6500_EA_AC=5921,2473;ESP6500_EA_GTC=2175,1571,451;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198576.3:coding-synonymous;ESP6500_GL=AGRN;ESP6500_GRCh38_POSITION=1:1054900;ESP6500_GTC=2442,2462,1438;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198576.3:c.6057C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198576.3:p.(D2019);ESP6500_MAF=29.4615,33.2168,42.0845;ESP6500_TAC=7346,5338;CLINVAR_ALLELEID=133768;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1054900C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGRN:375790;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4275402	GT:AD:DP:GQ:PL	1/1:0,19:19:57:650,57,0
chr1	1055137	rs2710872	C	T	1030.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.63;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710872;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|AGRN|AGRN|transcript|NM_001305275.1|protein_coding|38/38|c.*156C>T|||||156|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|3_prime_UTR_variant|MODIFIER|AGRN|AGRN|transcript|NM_198576.3|protein_coding|36/36|c.*156C>T|||||156|;p3_1000G_AA=C|||;p3_1000G_AC=4597;p3_1000G_AF=0.917931;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=15067;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8877;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=990517;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1059,108,0
chr1	1071823	rs4633229	A	G	433.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4633229;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|RNF223|RNF223|transcript|NM_001205252.1|protein_coding|2/2|c.744T>C|p.Asp248Asp|1045/1122|744/750|248/249||;p3_1000G_AA=G|||;p3_1000G_AC=4213;p3_1000G_AF=0.841254;p3_1000G_AFR_AF=0.8797;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=8727;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1007203;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7843;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:462,36,0
chr1	1072052	rs4333796	G	A	1756.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.89;SOR=1.01;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4333796;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|RNF223|RNF223|transcript|NM_001205252.1|protein_coding|2/2|c.515C>T|p.Ala172Val|816/1122|515/750|172/249||;p3_1000G_AA=G|||;p3_1000G_AC=2665;p3_1000G_AF=0.532149;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=7958;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.5616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1007432;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1785,188,0
chr1	1082764	rs9442395	T	C	338.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9442395;dbSNPBuildID=119;ANN=C|3_prime_UTR_variant|MODIFIER|C1orf159|C1orf159|transcript|NM_017891.4|protein_coding|10/10|c.*129A>G|||||129|;p3_1000G_AA=T|||;p3_1000G_AC=2693;p3_1000G_AF=0.53774;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=14052;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.5586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1018144;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:367,27,0
chr1	1083795	rs2298215	C	G	556.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2298215;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|C1orf159|C1orf159|transcript|NM_017891.4|protein_coding|9/9|c.502+558G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3520;p3_1000G_AF=0.702875;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=16419;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.7296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1019175;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:39:1|1:1083795_C_G:585,39,0
chr1	1083800	rs9442396	T	C	629.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9442396;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|C1orf159|C1orf159|transcript|NM_017891.4|protein_coding|9/9|c.502+553A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3008;p3_1000G_AF=0.600639;p3_1000G_AFR_AF=0.4584;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=16372;p3_1000G_EAS_AF=0.7937;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1019180;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:1083795_C_G:658,45,0
chr1	1086035	rs3737728	A	G	1100.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.4;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737728;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|C1orf159|C1orf159|transcript|NM_017891.4|protein_coding|6/9|c.311-23T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4070;p3_1000G_AF=0.8127;p3_1000G_AFR_AF=0.8109;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=15588;p3_1000G_EAS_AF=0.9177;p3_1000G_EUR_AF=0.7386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1021415;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3413,987;ESP6500_AA_AGE=358.1+/-314.2;ESP6500_AA_GTC=1327,759,114;ESP6500_CDS_SIZES=NM_017891.4:597;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=35;ESP6500_EA_AC=6204,2392;ESP6500_EA_AGE=387.9+/-342.4;ESP6500_EA_GTC=2219,1766,313;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017891.4:intron;ESP6500_GL=C1orf159;ESP6500_GRCh38_POSITION=1:1086035;ESP6500_GTC=3546,2525,427;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017891.4:c.311-23T>C;ESP6500_MAF=27.8269,22.4318,26.0003;ESP6500_TAC=9617,3379	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1129,96,0
chr1	1091327	rs4074137	C	A	1542.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4074137;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|C1orf159|C1orf159|transcript|NM_017891.4|protein_coding|3/9|c.72+145G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3140;p3_1000G_AF=0.626997;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=13542;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.6014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1026707;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1571,159,0
chr1	1091421	rs4562563	T	A	1945.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4562563;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|C1orf159|C1orf159|transcript|NM_017891.4|protein_coding|3/9|c.72+51A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3138;p3_1000G_AF=0.626597;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=12215;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.5944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1026801;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=577,803;ESP6500_AA_GTC=125,327,238;ESP6500_CDS_SIZES=NM_017891.4:597;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=15;ESP6500_EA_AC=1955,1223;ESP6500_EA_GTC=597,761,231;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017891.4:intron;ESP6500_GL=C1orf159;ESP6500_GRCh38_POSITION=1:1091421;ESP6500_GTC=722,1088,469;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_017891.4:c.72+51A>T;ESP6500_MAF=38.4833,41.8116,44.4493;ESP6500_TAC=2532,2026	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,62:62:99:1|1:1091413_C_A:1974,186,0
chr1	1179830	rs11260546	G	A	812.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11260546;dbSNPBuildID=120;ANN=A|5_prime_UTR_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_153254.2|protein_coding|1/9|c.-44G>A|||||224|,A|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|5/15|c.199+93G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1538;p3_1000G_AF=0.307109;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=13066;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1115210;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:1179830_G_A:841,57,0
chr1	1179833	rs11260547	G	T	775.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11260547;dbSNPBuildID=120;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TTLL10|TTLL10|transcript|NM_153254.2|protein_coding|1/9|c.-41G>T||||||,T|5_prime_UTR_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_153254.2|protein_coding|1/9|c.-41G>T|||||221|,T|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|5/15|c.199+96G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1440;p3_1000G_AF=0.28754;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=12961;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1115213;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:54:1|1:1179830_G_A:804,54,0
chr1	1180225	rs116712279	G	A	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.173;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-0.238;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116712279;dbSNPBuildID=132;ANN=A|missense_variant|MODERATE|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|6/16|c.391G>A|p.Ala131Thr|542/2259|391/2022|131/673||,A|missense_variant|MODERATE|TTLL10|TTLL10|transcript|NM_153254.2|protein_coding|2/9|c.172G>A|p.Ala58Thr|349/2113|172/1215|58/404||;p3_1000G_AA=G|||;p3_1000G_AC=33;p3_1000G_AF=0.00658946;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=9934;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1115605;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3,4363;ESP6500_AA_GTC=0,3,2180;ESP6500_CDS_SIZES=NM_153254.2:1215,NM_001130045.1:2022;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=14;ESP6500_EA_AC=0,8574;ESP6500_EA_GTC=0,0,4287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153254.2:missense,NM_001130045.1:missense;ESP6500_GL=TTLL10;ESP6500_GRCh38_POSITION=1:1180225;ESP6500_GS=58,58;ESP6500_GTC=0,3,6467;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153254.2:c.172G>A,NM_001130045.1:c.391G>A;ESP6500_HGVS_PROTEIN_VAR=NM_153254.2:p.(A58T),NM_001130045.1:p.(A131T);ESP6500_MAF=0.0,0.0687,0.0232;ESP6500_PH=benign:0.002,benign:0.002;ESP6500_TAC=3,12937	GT:AD:DP:GQ:PL	0/1:8,13:21:99:342,0,236
chr1	1180931	rs12096125	A	G	99.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12096125;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|8/15|c.755+71A>G||||||,G|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_153254.2|protein_coding|4/8|c.536+71A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=3708;p3_1000G_AF=0.740415;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=3000;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.335;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1116311;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:127,9,0
chr1	1182832	rs10907171	T	C	664.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10907171;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|10/15|c.917-44T>C||||||,C|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_153254.2|protein_coding|6/8|c.698-44T>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=3206;p3_1000G_AF=0.640176;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=12553;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.2555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1118212;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP;ESP6500_AA_AC=3210,1078;ESP6500_AA_GTC=1246,718,180;ESP6500_CDS_SIZES=NM_153254.2:1215,NM_001130045.1:2022;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=7;ESP6500_EA_AC=2148,6210;ESP6500_EA_GTC=362,1424,2393;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153254.2:intron,NM_001130045.1:intron;ESP6500_GL=TTLL10;ESP6500_GRCh38_POSITION=1:1182832;ESP6500_GTC=1608,2142,2573;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153254.2:c.698-44T>C,NM_001130045.1:c.917-44T>C;ESP6500_MAF=25.6999,25.1399,42.3691;ESP6500_TAC=5358,7288	GT:AD:DP:GQ:PL	1/1:0,22:22:66:693,66,0
chr1	1184927	rs7539911	G	A	513.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.04;ReadPosRankSum=-0.711;SOR=0.622;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7539911;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|12/15|c.1261-42G>A||||||,A|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_153254.2|protein_coding|8/8|c.1042-42G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1584;p3_1000G_AF=0.316294;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=30300;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.1809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1120307;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,18:19:47:542,47,0
chr1	1197405	rs2274792	C	T	481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274792;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|15/15|c.1613-33C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1322;p3_1000G_AF=0.263978;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=3872;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1132785;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:47:510,47,0
chr1	1197558	rs2274791	G	A	1212.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274791;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|16/16|c.1733G>A|p.Gly578Asp|1884/2259|1733/2022|578/673||;p3_1000G_AA=g|||;p3_1000G_AC=1243;p3_1000G_AF=0.248203;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=5693;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.1123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1132938;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1241,126,0
chr1	1197586	rs2274790	C	A	975.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274790;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|16/16|c.1761C>A|p.Pro587Pro|1912/2259|1761/2022|587/673||;p3_1000G_AA=N|||;p3_1000G_AC=1321;p3_1000G_AF=0.263778;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=5669;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.1143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1132966;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1004,96,0
chr1	1197697	rs2274789	A	G	198.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274789;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|16/16|c.1872A>G|p.Pro624Pro|2023/2259|1872/2022|624/673||;p3_1000G_AA=N|||;p3_1000G_AC=2737;p3_1000G_AF=0.546526;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=6447;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.2495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1133077;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0
chr1	1197874	rs12026794	G	A	221.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12026794;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|16/16|c.*27G>A|||||27|;p3_1000G_AA=N|||;p3_1000G_AC=1279;p3_1000G_AF=0.255391;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=10303;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.1123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1133254;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:1197874_G_A:250,18,0
chr1	1197893	rs12031928	T	C	295.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12031928;dbSNPBuildID=120;ANN=C|3_prime_UTR_variant|MODIFIER|TTLL10|TTLL10|transcript|NM_001130045.1|protein_coding|16/16|c.*46T>C|||||46|;p3_1000G_AA=N|||;p3_1000G_AC=2650;p3_1000G_AF=0.529153;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=11001;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.2495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1133273;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:27:1|1:1197874_G_A:324,27,0
chr1	1212042	rs17568;403556	C	T	530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17568;dbSNPBuildID=63;ANN=T|synonymous_variant|LOW|TNFRSF4|TNFRSF4|transcript|NM_003327.3|protein_coding|5/7|c.534G>A|p.Glu178Glu|575/1104|534/834|178/277||,T|downstream_gene_variant|MODIFIER|SDF4|SDF4|transcript|NM_016176.3|protein_coding||c.*5470G>A|||||4866|,T|downstream_gene_variant|MODIFIER|SDF4|SDF4|transcript|NM_016547.2|protein_coding||c.*5628G>A|||||4866|;p3_1000G_AA=c|||;p3_1000G_AC=2496;p3_1000G_AF=0.498403;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=13575;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.2117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1147422;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5879;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1662,2718;ESP6500_AA_GTC=306,1050,834;ESP6500_CDS_SIZES=NM_003327.3:834;ESP6500_CG=0.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_63;ESP6500_DP=18;ESP6500_EA_AC=1756,6800;ESP6500_EA_GTC=195,1366,2717;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003327.3:coding-synonymous;ESP6500_GL=TNFRSF4;ESP6500_GRCh38_POSITION=1:1212042;ESP6500_GTC=501,2416,3551;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003327.3:c.534G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003327.3:p.(E178);ESP6500_MAF=20.5236,37.9452,26.4224;ESP6500_TAC=3418,9518;CLINVAR_ALLELEID=389315;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.1212042C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TNFRSF4:7293;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17568	GT:AD:DP:GQ:PL	1/1:0,19:19:56:559,56,0
chr1	1223251	rs6603781	A	G	2039.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6603781;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|SDF4|SDF4|transcript|NM_016176.3|protein_coding|4/7|c.570T>C|p.Asp190Asp|899/2022|570/1089|190/362||,G|synonymous_variant|LOW|SDF4|SDF4|transcript|NM_016547.2|protein_coding|4/7|c.570T>C|p.Asp190Asp|899/2138|570/1047|190/348||;p3_1000G_AA=a|||;p3_1000G_AC=4774;p3_1000G_AF=0.953275;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=22317;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8608;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1158631;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4313,93;ESP6500_AA_GTC=2110,93,0;ESP6500_CDS_SIZES=NM_016547.2:1047,NM_016176.3:1089;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=255;ESP6500_EA_AC=7652,948;ESP6500_EA_GTC=3411,830,59;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016547.2:coding-synonymous,NM_016176.3:coding-synonymous;ESP6500_GL=SDF4;ESP6500_GRCh38_POSITION=1:1223251;ESP6500_GTC=5521,923,59;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016547.2:c.570T>C,NM_016176.3:c.570T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016547.2:p.(D190),NM_016176.3:p.(D190);ESP6500_MAF=11.0233,2.1108,8.004;ESP6500_TAC=11965,1041	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,62:62:99:1|1:1223251_A_G:2068,186,0
chr1	1228431	rs147694774;rs562016397;~rs3831195	G	GGACA	930.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.166;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.9;ReadPosRankSum=0.614;SOR=0.762;INS;HET;VARTYPE=INS;dbSNP138_ID=rs147694774,rs3831195;dbSNPBuildID=134;ANN=GGACA|upstream_gene_variant|MODIFIER|B3GALT6|B3GALT6|transcript|NM_080605.3|protein_coding||c.-3848_-3847insGACA|||||3817|,GGACA|intron_variant|MODIFIER|SDF4|SDF4|transcript|NM_016176.3|protein_coding|2/6|c.326+33_326+36dupTGTC||||||,GGACA|intron_variant|MODIFIER|SDF4|SDF4|transcript|NM_016547.2|protein_coding|2/6|c.326+33_326+36dupTGTC||||||;p3_1000G_AC=1143;p3_1000G_AF=0.228235;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=14455;p3_1000G_EAS_AF=0.5327;p3_1000G_EUR_AF=0.0437;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1163811;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=61,4191;ESP6500_AA_GTC=1,59,2066;ESP6500_CDS_SIZES=NM_016547.2:1047,NM_016176.3:1089;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=20;ESP6500_EA_AC=375,7857;ESP6500_EA_GTC=17,341,3758;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016547.2:intron,NM_016176.3:intron;ESP6500_GL=SDF4;ESP6500_GRCh38_POSITION=1:1228431;ESP6500_GTC=18,400,5824;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_016547.2:c.326+36_326+37insTGTC,NM_016176.3:c.326+36_326+37insTGTC;ESP6500_MAF=4.5554,1.4346,3.4925;ESP6500_TAC=436,12048	GT:AD:DP:GQ:PL	0/1:27,25:52:99:968,0,1491
chr1	1263238	rs12563338	T	A	453.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.36;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12563338;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|UBE2J2|UBE2J2|transcript|NM_194315.1|protein_coding|4/7|c.220+108A>T||||||,A|intron_variant|MODIFIER|UBE2J2|UBE2J2|transcript|NM_058167.2|protein_coding|3/6|c.172+108A>T||||||,A|intron_variant|MODIFIER|UBE2J2|UBE2J2|transcript|NM_194457.1|protein_coding|2/5|c.16+108A>T||||||,A|intron_variant|MODIFIER|UBE2J2|UBE2J2|transcript|NM_194458.1|protein_coding|3/6|c.16+108A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1631;p3_1000G_AF=0.325679;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=19782;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1198618;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:482,48,0
chr1	1267929	rs1268175928	G	C	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.205;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.543;SOR=0.824;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|missense_variant|MODERATE|UBE2J2|UBE2J2|transcript|NM_194315.1|protein_coding|2/8|c.64C>G|p.Leu22Val|253/2308|64/828|22/275||,C|missense_variant|MODERATE|UBE2J2|UBE2J2|transcript|NM_058167.2|protein_coding|2/7|c.64C>G|p.Leu22Val|253/2260|64/780|22/259||,C|5_prime_UTR_variant|MODIFIER|UBE2J2|UBE2J2|transcript|NM_194458.1|protein_coding|2/7|c.-222C>G|||||4568|,C|intron_variant|MODIFIER|UBE2J2|UBE2J2|transcript|NM_194457.1|protein_coding|1/5|c.-25-4543C>G||||||	GT:AD:DP:GQ:PL	0/1:38,16:54:99:328,0,1012
chr1	1281168	rs58403854	TC	T	637.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=1.911;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58403854;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|1/17|c.6-57delC||||||,T|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|1/16|n.232-57delC||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=1597;p3_1000G_AF=0.31889;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=16494;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1216548;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:1281168_TC_T:675,45,0
chr1	1281170	rs57961296;rs796489544	TGG	T	637.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.08;SOR=1.911;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57961296;dbSNPBuildID=137,146;ANN=T|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|1/17|c.6-54_6-53delGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|1/16|n.232-54_232-53delGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1597;p3_1000G_AF=0.31889;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=15611;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1216550;p3_1000G_GRCH37_REF=TGG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:1281168_TC_T:675,45,0
chr1	1285574	rs12751100	G	A	1138.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=1.236;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12751100;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|6/18|c.468G>A|p.Ser156Ser|694/3054|468/2409|156/802||,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|5/16|n.691-352G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2217;p3_1000G_AF=0.442692;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=18800;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.0368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1220954;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP;ESP6500_AA_AC=849,535;ESP6500_AA_GTC=251,347,94;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=50;ESP6500_EA_AC=112,3064;ESP6500_EA_GTC=1,110,1477;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001130413.3:coding-synonymous;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1285574;ESP6500_GTC=252,457,1571;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.468G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001130413.3:p.(S156);ESP6500_MAF=3.5264,38.6561,21.0746;ESP6500_TAC=961,3599	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1167,117,0
chr1	1285758	rs11260578	G	A	535.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.42;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11260578;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|6/17|c.558+94G>A||||||,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|5/16|n.691-168G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1521;p3_1000G_AF=0.303714;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=18826;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.0189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1221138;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:564,45,0
chr1	1286337	rs13306647	C	T	1475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13306647;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|7/17|c.911+59C>T||||||,T|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|6/16|n.1043+59C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1523;p3_1000G_AF=0.304113;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=13189;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.0189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1221717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1504,144,0
chr1	1286887	rs11260579	G	C	1191.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.48;SOR=1.28;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11260579;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|8/18|c.1031G>C|p.Arg344Pro|1257/3054|1031/2409|344/802||,C|non_coding_transcript_exon_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|7/17|n.1163G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1519;p3_1000G_AF=0.303315;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=14096;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.0189;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1222267;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=998,3392;ESP6500_AA_GTC=126,746,1323;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=153,8431;ESP6500_EA_GTC=5,143,4144;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001130413.3:missense;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1286887;ESP6500_GS=103;ESP6500_GTC=131,889,5467;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1031G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001130413.3:p.(R344P);ESP6500_MAF=1.7824,22.7335,8.8716;ESP6500_PH=possibly-damaging:0.948;ESP6500_TAC=1151,11823	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1220,131,0
chr1	1287315	rs910556	G	C	956.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs910556;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|9/17|c.1310+16G>C||||||,C|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|8/16|n.1442+16G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1777;p3_1000G_AF=0.354832;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=11532;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.0368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1222695;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1338,2972;ESP6500_AA_GTC=199,940,1016;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=9;ESP6500_EA_AC=283,8181;ESP6500_EA_GTC=10,263,3959;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:intron;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1287315;ESP6500_GTC=209,1203,4975;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1310+16G>C;ESP6500_MAF=3.3436,31.0441,12.6898;ESP6500_TAC=1621,11153	GT:AD:DP:GQ:PL	1/1:0,31:31:93:985,93,0
chr1	1288005	rs2228579	G	C	1330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228579;dbSNPBuildID=130;ANN=C|missense_variant|MODERATE|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|12/18|c.1630G>C|p.Glu544Gln|1856/3054|1630/2409|544/802||,C|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*5559C>G|||||4379|,C|non_coding_transcript_exon_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|11/17|n.1762G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1641;p3_1000G_AF=0.327676;p3_1000G_AFR_AF=0.354;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=11106;p3_1000G_EAS_AF=0.6111;p3_1000G_EUR_AF=0.0229;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1223385;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1103,2955;ESP6500_AA_GTC=124,855,1050;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=9;ESP6500_EA_AC=139,8021;ESP6500_EA_GTC=2,135,3943;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001130413.3:missense;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1288005;ESP6500_GS=29;ESP6500_GTC=126,990,4993;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1630G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001130413.3:p.(E544Q);ESP6500_MAF=1.7034,27.1809,10.1653;ESP6500_PH=benign:0.015;ESP6500_TAC=1242,10976	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1359,114,0
chr1	1290232	rs1570866	G	A	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-1.027;SOR=2.55;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1570866;dbSNPBuildID=88;ANN=A|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*3332C>T|||||2152|,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|12/17|c.1663-39G>A||||||,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|11/16|n.1795-39G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=890;p3_1000G_AF=0.177716;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=19269;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.1113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1225612;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=965,3391;ESP6500_AA_AGE=350.8+/-311.0;ESP6500_AA_GTC=106,753,1319;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=33;ESP6500_EA_AC=1073,7503;ESP6500_EA_AGE=219.9+/-257.8;ESP6500_EA_GTC=63,947,3278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:intron;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1290232;ESP6500_GTC=169,1700,4597;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1663-39G>A;ESP6500_MAF=12.5117,22.1534,15.7594;ESP6500_TAC=2038,10894	GT:AD:DP:GQ:PL	0/1:5,7:12:88:202,0,88
chr1	1290261	rs2748384	C	A	471.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.7;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2748384;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*3303G>T|||||2123|,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|12/17|c.1663-10C>A||||||,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|11/16|n.1795-10C>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=2458;p3_1000G_AF=0.490815;p3_1000G_AFR_AF=0.7564;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=20272;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.1123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1225641;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2841,1525;ESP6500_AA_AGE=469.8+/-355.6;ESP6500_AA_GTC=914,1013,256;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=950,7626;ESP6500_EA_AGE=769.3+/-407.6;ESP6500_EA_GTC=60,830,3398;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:intron;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1290261;ESP6500_GTC=974,1843,3654;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1663-10C>A;ESP6500_MAF=11.0774,34.929,29.2922;ESP6500_TAC=3791,9151	GT:AD:DP:GQ:PL	1/1:0,14:14:42:500,42,0
chr1	1290579	rs1570867	C	G	1155.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.19;SOR=1.075;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1570867;dbSNPBuildID=88;ANN=G|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*2985G>C|||||1805|,G|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|14/17|c.1859+24C>G||||||,G|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|13/16|n.1991+24C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2848;p3_1000G_AF=0.56869;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=15910;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.1243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1225959;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2754,1620;ESP6500_AA_AGE=489.0+/-361.4;ESP6500_AA_GTC=871,1012,304;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=60;ESP6500_EA_AC=1125,7463;ESP6500_EA_AGE=763.3+/-407.6;ESP6500_EA_GTC=71,983,3240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:intron;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1290579;ESP6500_GTC=942,1995,3544;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1859+24C>G;ESP6500_MAF=13.0997,37.037,29.9259;ESP6500_TAC=3879,9083	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1184,123,0
chr1	1290722	rs2273274	G	A	747.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273274;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*2842C>T|||||1662|,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|15/17|c.1917+28G>A||||||,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|14/16|n.2049+28G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1314;p3_1000G_AF=0.26238;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=14434;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.0189;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1226102;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA_AC=989,3367;ESP6500_AA_AGE=351.3+/-311.2;ESP6500_AA_GTC=118,753,1307;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=28;ESP6500_EA_AC=130,8438;ESP6500_EA_AGE=63.9+/-126.0;ESP6500_EA_GTC=2,126,4156;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:intron;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1290722;ESP6500_GTC=120,879,5463;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1917+28G>A;ESP6500_MAF=1.5173,22.7043,8.6583;ESP6500_TAC=1119,11805	GT:AD:DP:GQ:PL	1/1:0,22:22:66:776,66,0
chr1	1290841	rs2273275	A	G	1181.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=2.899;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273275;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*2723T>C|||||1543|,G|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|15/17|c.1918-54A>G||||||,G|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|14/16|n.2050-54A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=14381;p3_1000G_EAS_AF=0.8581;p3_1000G_EUR_AF=0.1223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1226221;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP;ESP6500_AA_AC=790,588;ESP6500_AA_GTC=221,348,120;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=18;ESP6500_EA_AC=408,2754;ESP6500_EA_GTC=42,324,1215;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:intron;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1290841;ESP6500_GTC=263,672,1335;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1918-54A>G;ESP6500_MAF=12.9032,42.6705,26.3877;ESP6500_TAC=1198,3342	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1210,102,0
chr1	1290867	rs13306639	G	A	825.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.555;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=3.427;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.398;SOR=1.629;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306639;dbSNPBuildID=121;ANN=A|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*2697C>T|||||1517|,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|15/17|c.1918-28G>A||||||,A|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|14/16|n.2050-28G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=14667;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1226247;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA_AC=0,4336;ESP6500_AA_GTC=0,0,2168;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=25;ESP6500_EA_AC=1,8555;ESP6500_EA_GTC=0,1,4277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:intron;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1290867;ESP6500_GTC=0,1,6445;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1918-28G>A;ESP6500_MAF=0.0117,0.0,0.0078;ESP6500_TAC=1,12891	GT:AD:DP:GQ:PL	0/1:20,30:50:99:854,0,490
chr1	1290912	rs2273276	G	A	1695.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=2.137;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273276;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|16/18|c.1935G>A|p.Thr645Thr|2161/3054|1935/2409|645/802||,A|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*2652C>T|||||1472|,A|non_coding_transcript_exon_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|15/17|n.2067G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=867;p3_1000G_AF=0.173123;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=14185;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1226292;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=79,4261;ESP6500_AA_GTC=0,79,2091;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=27;ESP6500_EA_AC=57,8497;ESP6500_EA_GTC=1,55,4221;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:coding-synonymous;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1290912;ESP6500_GTC=1,134,6312;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1935G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001130413.3:p.(T645);ESP6500_MAF=0.6664,1.8203,1.0548;ESP6500_TAC=136,12758	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1724,162,0
chr1	1290968	rs586965	C	G	2692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=1.347;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs586965;dbSNPBuildID=83;ANN=G|downstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.*2596G>C|||||1416|,G|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding|16/17|c.1976+15C>G||||||,G|intron_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene|15/16|n.2108+15C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2525;p3_1000G_AF=0.504193;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=13397;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.1193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1226348;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2846,1502;ESP6500_AA_GTC=924,998,252;ESP6500_CDS_SIZES=NM_001130413.3:2409;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=29;ESP6500_EA_AC=1055,7497;ESP6500_EA_GTC=68,919,3289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130413.3:intron;ESP6500_GL=SCNN1D;ESP6500_GRCh38_POSITION=1:1290968;ESP6500_GTC=992,1917,3541;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001130413.3:c.1976+15C>G;ESP6500_MAF=12.3363,34.5446,30.2403;ESP6500_TAC=3901,8999	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2721,252,0
chr1	1293734	rs2281459	C	A	117.85	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=2.2;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2281459;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding||c.*2124C>A|||||1705|,A|downstream_gene_variant|MODIFIER|MIR6726|MIR6726|transcript|NR_106784.1|pseudogene||n.*2376G>T|||||2376|,A|downstream_gene_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene||n.*1705C>A|||||1705|,A|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|23/23|c.2361-26G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1106;p3_1000G_AF=0.220847;p3_1000G_AFR_AF=0.149;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=5721;p3_1000G_EAS_AF=0.5952;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1229114;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=247,2633;ESP6500_AA_GTC=1,245,1194;ESP6500_CDS_SIZES=NM_030649.2:2505;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=2;ESP6500_EA_AC=8,5906;ESP6500_EA_GTC=0,8,2949;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030649.2:intron;ESP6500_GL=ACAP3;ESP6500_GRCh38_POSITION=1:1293734;ESP6500_GTC=1,253,4143;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_030649.2:c.2361-26G>T;ESP6500_MAF=0.1353,8.5764,2.8997;ESP6500_TAC=255,8539	GT:AD:DP:GQ:PL	0/1:2,7:9:17:146,0,17
chr1	1294300	rs2477781	G	T	1435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=0.788;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2477781;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NM_001130413.3|protein_coding||c.*2690G>T|||||2271|,T|downstream_gene_variant|MODIFIER|MIR6726|MIR6726|transcript|NR_106784.1|pseudogene||n.*1810C>A|||||1810|,T|downstream_gene_variant|MODIFIER|SCNN1D|SCNN1D|transcript|NR_037668.2|pseudogene||n.*2271G>T|||||2271|,T|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|21/23|c.2140-101C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4945;p3_1000G_AF=0.98742;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=7473;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1229680;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1464,126,0
chr1	1298200	rs2297234	G	T	594.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297234;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|MIR6726|MIR6726|transcript|NR_106784.1|pseudogene||n.-2030C>A|||||2030|,T|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|12/23|c.916-87C>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=852;p3_1000G_AF=0.170128;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=11458;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1233580;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:623,51,0
chr1	1298292	rs2297233	C	A	673.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297233;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|MIR6726|MIR6726|transcript|NR_106784.1|pseudogene||n.-2122G>T|||||2122|,A|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|12/23|c.915+78G>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1112;p3_1000G_AF=0.222045;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=10703;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1233672;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:702,63,0
chr1	1298561	rs1739855	T	C	401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1739855;dbSNPBuildID=89;ANN=C|splice_region_variant&intron_variant|LOW|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|11/23|c.863+6A>G||||||,C|upstream_gene_variant|MODIFIER|MIR6726|MIR6726|transcript|NR_106784.1|pseudogene||n.-2391A>G|||||2391|;p3_1000G_AA=c|||;p3_1000G_AC=2488;p3_1000G_AF=0.496805;p3_1000G_AFR_AF=0.8169;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=5572;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.0825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1233941;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP;ESP6500_AA_AC=3133,1265;ESP6500_AA_AGE=402.4+/-332.3;ESP6500_AA_GTC=1123,887,189;ESP6500_CDS_SIZES=NM_030649.2:2505;ESP6500_CG=0.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=51;ESP6500_EA_AC=636,7954;ESP6500_EA_AGE=783.4+/-407.6;ESP6500_EA_GTC=30,576,3689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030649.2:intron;ESP6500_GL=ACAP3;ESP6500_GRCh38_POSITION=1:1298561;ESP6500_GTC=1153,1463,3878;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_030649.2:c.863+6A>G;ESP6500_MAF=7.404,28.7631,29.0191;ESP6500_TAC=3769,9219	GT:AD:DP:GQ:PL	1/1:0,12:12:36:430,36,0
chr1	1302158	rs2296476	G	A	397.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296476;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|4/23|c.280-112C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1116;p3_1000G_AF=0.222843;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=16326;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1237538;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=171,1209;ESP6500_AA_GTC=8,155,527;ESP6500_CDS_SIZES=NM_030649.2:2505;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=16;ESP6500_EA_AC=7,3161;ESP6500_EA_GTC=0,7,1577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030649.2:intron;ESP6500_GL=ACAP3;ESP6500_GRCh38_POSITION=1:1302158;ESP6500_GTC=8,162,2104;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_030649.2:c.280-112C>T;ESP6500_MAF=0.221,12.3913,3.9138;ESP6500_TAC=178,4370	GT:AD:DP:GQ:PL	1/1:0,13:13:39:426,39,0
chr1	1302224	rs2296475	T	C	185.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296475;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|4/23|c.280-178A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4419;p3_1000G_AF=0.882388;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=15468;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1237604;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:214,15,0
chr1	1303959	rs11260584	T	G	1030.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.704;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=29.45;ReadPosRankSum=0.392;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11260584;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|PUSL1|PUSL1|transcript|NM_153339.1|protein_coding||c.-4685T>G|||||4655|,G|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|2/23|c.105+127A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3602;p3_1000G_AF=0.719249;p3_1000G_AFR_AF=0.3064;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=16968;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.9245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1239339;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:2,33:35:34:1|1:1303958_CT_C:1059,34,0
chr1	1307243	rs369410185	AC	A	368.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.634;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.67;SOR=0.61;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369410185;dbSNPBuildID=142;ANN=A|upstream_gene_variant|MODIFIER|PUSL1|PUSL1|transcript|NM_153339.1|protein_coding||c.-1400delC|||||1370|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding||c.*4615delG|||||4341|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding||c.*4615delG|||||4341|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding||c.*4615delG|||||4341|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding||c.*4615delG|||||4341|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding||c.*4615delG|||||4341|,A|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|1/23|c.47+525delG||||||;p3_1000G_AA=?|CCCCC|CCCC|unsure;p3_1000G_AC=16;p3_1000G_AF=0.00319489;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15561;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1242623;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,15:28:99:406,0,340
chr1	1307276	rs2274263	G	A	1289.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274263;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|PUSL1|PUSL1|transcript|NM_153339.1|protein_coding||c.-1368G>A|||||1338|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding||c.*4583C>T|||||4309|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding||c.*4583C>T|||||4309|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding||c.*4583C>T|||||4309|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding||c.*4583C>T|||||4309|,A|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding||c.*4583C>T|||||4309|,A|intron_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding|1/23|c.47+493C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1111;p3_1000G_AF=0.221845;p3_1000G_AFR_AF=0.1467;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=16117;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1242656;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1318,132,0
chr1	1310624	rs2296474	A	G	1008.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296474;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.-2809T>C|||||2735|,G|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding||c.*1235T>C|||||961|,G|downstream_gene_variant|MODIFIER|MIR6727|MIR6727|transcript|NR_106785.1|pseudogene||n.*1878T>C|||||1878|,G|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding||c.*1235T>C|||||961|,G|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding||c.*1235T>C|||||961|,G|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding||c.*1235T>C|||||961|,G|downstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding||c.*1235T>C|||||961|,G|intron_variant|MODIFIER|PUSL1|PUSL1|transcript|NM_153339.1|protein_coding|5/7|c.645-10A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4767;p3_1000G_AF=0.951877;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18563;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1246004;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4362,44;ESP6500_AA_AGE=46.0+/-80.4;ESP6500_AA_GTC=2160,42,1;ESP6500_CDS_SIZES=NM_153339.1:912;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=143;ESP6500_EA_AC=8343,257;ESP6500_EA_AGE=101.2+/-162.5;ESP6500_EA_GTC=4049,245,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153339.1:intron;ESP6500_GL=PUSL1;ESP6500_GRCh38_POSITION=1:1310624;ESP6500_GTC=6209,287,7;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153339.1:c.645-10A>G;ESP6500_MAF=2.9884,0.9986,2.3143;ESP6500_TAC=12705,301	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1037,93,0
chr1	1312198	rs752605219	T	TG	29.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=9.75;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=144;ANN=TG|upstream_gene_variant|MODIFIER|ACAP3|ACAP3|transcript|NM_030649.2|protein_coding||c.-4384dupC|||||4310|,TG|downstream_gene_variant|MODIFIER|PUSL1|PUSL1|transcript|NM_153339.1|protein_coding||c.*819_*820insG|||||522|,TG|downstream_gene_variant|MODIFIER|MIR6727|MIR6727|transcript|NR_106785.1|pseudogene||n.*303dupC|||||303|,TG|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding|17/18|c.1625+27dupC||||||,TG|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding|16/17|c.1520+27dupC||||||,TG|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding|13/14|c.1313+27dupC||||||,TG|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding|13/14|c.1304+27dupC||||||,TG|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding|15/16|c.1607+27dupC||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:66,9,0
chr1	1318756	rs4970432	G	A	270.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970432;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding|6/18|c.447+540C>T||||||,A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding|5/17|c.342+540C>T||||||,A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding|2/14|c.140-3142C>T||||||,A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding|2/14|c.126+2240C>T||||||,A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding|4/16|c.429+540C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3602;p3_1000G_AF=0.719249;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=18989;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1254136;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:299,24,0
chr1	1319056	rs1886773	A	G	2355.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=1.094;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1886773;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding|6/18|c.447+240T>C||||||,G|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding|5/17|c.342+240T>C||||||,G|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding|2/14|c.140-3442T>C||||||,G|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding|2/14|c.126+1940T>C||||||,G|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding|4/16|c.429+240T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4374;p3_1000G_AF=0.873403;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=16865;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.9563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1254436;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,51:51:99:1|1:1319056_A_G:2384,163,0
chr1	1319063	rs1886772	G	A	2350.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=1.118;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1886772;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding|6/18|c.447+233C>T||||||,A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding|5/17|c.342+233C>T||||||,A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding|2/14|c.140-3449C>T||||||,A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding|2/14|c.126+1933C>T||||||,A|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding|4/16|c.429+233C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3573;p3_1000G_AF=0.713458;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=17315;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1254443;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,54:54:99:1|1:1319056_A_G:2379,163,0
chr1	1319461	rs10907179	C	G	1291.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.547;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10907179;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding|6/19|c.282G>C|p.Gly94Gly|816/2629|282/1821|94/606||,G|synonymous_variant|LOW|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding|5/18|c.177G>C|p.Gly59Gly|450/2263|177/1716|59/571||,G|synonymous_variant|LOW|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding|4/17|c.264G>C|p.Gly88Gly|343/2156|264/1803|88/600||,G|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding|2/14|c.139+3716G>C||||||,G|intron_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding|2/14|c.126+1535G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3574;p3_1000G_AF=0.713658;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=18095;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.9205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1254841;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1754,2652;ESP6500_AA_AGE=512.1+/-368.0;ESP6500_AA_GTC=361,1032,810;ESP6500_CDS_SIZES=NM_017871.5:1803,NM_001256463.1:1500,NM_001256462.1:1509,NM_001256460.1:1716,NM_001256456.1:1821;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=96;ESP6500_EA_AC=8017,583;ESP6500_EA_AGE=790.3+/-407.6;ESP6500_EA_GTC=3746,525,29;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017871.5:coding-synonymous,NM_001256463.1:intron,NM_001256462.1:intron,NM_001256460.1:coding-synonymous,NM_001256456.1:coding-synonymous;ESP6500_GL=CPSF3L;ESP6500_GRCh38_POSITION=1:1319461;ESP6500_GTC=4107,1557,839;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_017871.5:c.264G>C,NM_001256463.1:c.126+1535G>C,NM_001256462.1:c.139+3716G>C,NM_001256460.1:c.177G>C,NM_001256456.1:c.282G>C;ESP6500_HGVS_PROTEIN_VAR=NM_017871.5:p.(G88),.,.,NM_001256460.1:p.(G59),NM_001256456.1:p.(G94);ESP6500_MAF=6.7791,39.8094,24.8731;ESP6500_TAC=9771,3235	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1320,108,0
chr1	1327211	rs2296472	C	T	570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.54;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296472;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding||c.-5258G>A|||||2524|,T|upstream_gene_variant|MODIFIER|TAS1R3|TAS1R3|transcript|NM_152228.2|protein_coding||c.-4135C>T|||||4135|,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding||c.-6177G>A|||||2524|,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding||c.-2603G>A|||||2524|,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding||c.-2603G>A|||||2524|,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding||c.-2603G>A|||||2524|,T|intron_variant|MODIFIER|CPTP|CPTP|transcript|NM_001029885.1|protein_coding|2/2|c.123-30C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3605;p3_1000G_AF=0.719848;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=15378;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.9195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1262591;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8344;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1854,2548;ESP6500_AA_AGE=520.9+/-370.4;ESP6500_AA_GTC=403,1048,750;ESP6500_CDS_SIZES=NM_001029885.1:645;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=8025,575;ESP6500_EA_AGE=775.0+/-407.7;ESP6500_EA_GTC=3752,521,27;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029885.1:intron;ESP6500_GL=GLTPD1;ESP6500_GRCh38_POSITION=1:1327211;ESP6500_GTC=4155,1569,777;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029885.1:c.123-30C>T;ESP6500_MAF=6.686,42.1172,24.0194;ESP6500_TAC=9879,3123	GT:AD:DP:GQ:PL	1/1:0,20:20:60:599,60,0
chr1	1327586	rs307349	C	T	2761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.7;SOR=0.953;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs307349;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|CPTP|CPTP|transcript|NM_001029885.1|protein_coding|3/3|c.468C>T|p.Arg156Arg|883/2193|468/645|156/214||,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding||c.-5633G>A|||||2899|,T|upstream_gene_variant|MODIFIER|TAS1R3|TAS1R3|transcript|NM_152228.2|protein_coding||c.-3760C>T|||||3760|,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding||c.-6552G>A|||||2899|,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding||c.-2978G>A|||||2899|,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding||c.-2978G>A|||||2899|,T|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding||c.-2978G>A|||||2899|;p3_1000G_AA=t|||;p3_1000G_AC=3819;p3_1000G_AF=0.76258;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=16022;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.9155;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1262966;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2542,1832;ESP6500_AA_GTC=745,1052,390;ESP6500_CDS_SIZES=NM_001029885.1:645;ESP6500_CG=-3.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=18;ESP6500_EA_AC=7992,590;ESP6500_EA_GTC=3732,528,31;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029885.1:coding-synonymous;ESP6500_GL=GLTPD1;ESP6500_GRCh38_POSITION=1:1327586;ESP6500_GTC=4477,1580,421;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029885.1:c.468C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001029885.1:p.(R156);ESP6500_MAF=6.8749,41.8839,18.694;ESP6500_TAC=10534,2422	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2790,279,0
chr1	1327764	rs307350	G	A	1523.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs307350;dbSNPBuildID=79;ANN=A|3_prime_UTR_variant|MODIFIER|CPTP|CPTP|transcript|NM_001029885.1|protein_coding|3/3|c.*1G>A|||||1|,A|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256456.1|protein_coding||c.-5811C>T|||||3077|,A|upstream_gene_variant|MODIFIER|TAS1R3|TAS1R3|transcript|NM_152228.2|protein_coding||c.-3582G>A|||||3582|,A|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256460.1|protein_coding||c.-6730C>T|||||3077|,A|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256462.1|protein_coding||c.-3156C>T|||||3077|,A|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_001256463.1|protein_coding||c.-3156C>T|||||3077|,A|upstream_gene_variant|MODIFIER|CPSF3L|CPSF3L|transcript|NM_017871.5|protein_coding||c.-3156C>T|||||3077|;p3_1000G_AA=g|||;p3_1000G_AC=4256;p3_1000G_AF=0.84984;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.8991;p3_1000G_AN=5008;p3_1000G_DP=15569;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.9235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1263144;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8344;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3546,612;ESP6500_AA_GTC=1508,530,41;ESP6500_CDS_SIZES=NM_001029885.1:645;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=46;ESP6500_EA_AC=7868,540;ESP6500_EA_GTC=3689,490,25;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029885.1:utr-3;ESP6500_GL=GLTPD1;ESP6500_GRCh38_POSITION=1:1327764;ESP6500_GTC=5197,1020,66;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001029885.1:c.*1G>A;ESP6500_MAF=6.4225,14.7186,9.1676;ESP6500_TAC=11414,1152	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1552,129,0
chr1	1333467	rs307378	T	G	2980.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs307378;dbSNPBuildID=79;ANN=G|downstream_gene_variant|MODIFIER|CPTP|CPTP|transcript|NM_001029885.1|protein_coding||c.*5704T>G|||||4571|,G|downstream_gene_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding||c.*2675A>C|||||1811|,G|intron_variant|MODIFIER|TAS1R3|TAS1R3|transcript|NM_152228.2|protein_coding|5/5|c.1601-39T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=4766;p3_1000G_AF=0.951677;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=15260;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1268847;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4360,44;ESP6500_AA_AGE=44.6+/-78.6;ESP6500_AA_GTC=2159,42,1;ESP6500_CDS_SIZES=NM_152228.1:2559;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=32;ESP6500_EA_AC=8345,251;ESP6500_EA_AGE=96.3+/-158.1;ESP6500_EA_GTC=4053,239,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152228.1:intron;ESP6500_GL=TAS1R3;ESP6500_GRCh38_POSITION=1:1333467;ESP6500_GTC=6212,281,7;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_152228.1:c.1601-39T>G;ESP6500_MAF=2.92,0.9991,2.2692;ESP6500_TAC=12705,295	GT:AD:DP:GQ:PL	1/1:0,92:92:99:3009,276,0
chr1	1334174	rs307377	T	C	1668.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=1.157;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs307377;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|TAS1R3|TAS1R3|transcript|NM_152228.2|protein_coding|6/6|c.2269T>C|p.Cys757Arg|2269/3415|2269/2559|757/852||,C|downstream_gene_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding||c.*1968A>G|||||1104|;p3_1000G_AA=c|||;p3_1000G_AC=4767;p3_1000G_AF=0.951877;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18196;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.9662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1269554;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4332,44;ESP6500_AA_GTC=2145,42,1;ESP6500_CDS_SIZES=NM_152228.1:2559;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=21;ESP6500_EA_AC=8325,249;ESP6500_EA_GTC=4044,237,6;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152228.1:missense;ESP6500_GL=TAS1R3;ESP6500_GRCh38_POSITION=1:1334174;ESP6500_GS=180;ESP6500_GTC=6189,279,7;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152228.1:c.2269T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152228.1:p.(C757R);ESP6500_MAF=2.9041,1.0055,2.2625;ESP6500_PH=benign:0.0;ESP6500_TAC=12657,293	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1697,150,0
chr1	1337117	rs307372	A	G	1125.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs307372;dbSNPBuildID=79;ANN=G|downstream_gene_variant|MODIFIER|TAS1R3|TAS1R3|transcript|NM_152228.2|protein_coding||c.*2653A>G|||||1797|,G|downstream_gene_variant|MODIFIER|MIR6808|MIR6808|transcript|NR_106866.1|pseudogene||n.*2533T>C|||||2533|,G|intron_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding|14/14|c.1640-602T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=4765;p3_1000G_AF=0.951478;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=13357;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1272497;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1154,108,0
chr1	1337898	rs307370	A	G	142.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs307370;dbSNPBuildID=79;ANN=G|downstream_gene_variant|MODIFIER|TAS1R3|TAS1R3|transcript|NM_152228.2|protein_coding||c.*3434A>G|||||2578|,G|downstream_gene_variant|MODIFIER|MIR6808|MIR6808|transcript|NR_106866.1|pseudogene||n.*1752T>C|||||1752|,G|intron_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding|14/14|c.1639+79T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=3427;p3_1000G_AF=0.684305;p3_1000G_AFR_AF=0.7088;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=6076;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1273278;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:170,12,0
chr1	1339884	rs59153307	A	ACAGCCGCATGTCCCCCAGCAGCCCCCACAGACCCACCCG	157.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59153307;dbSNPBuildID=129;ANN=ACAGCCGCATGTCCCCCAGCAGCCCCCACAGACCCACCCG|upstream_gene_variant|MODIFIER|MIR6808|MIR6808|transcript|NR_106866.1|pseudogene||n.-177_-176insCGGGTGGGTCTGTGGGGGCTGCTGGGGGACATGCGGCTG|||||177|,ACAGCCGCATGTCCCCCAGCAGCCCCCACAGACCCACCCG|downstream_gene_variant|MODIFIER|TAS1R3|TAS1R3|transcript|NM_152228.2|protein_coding||c.*5420_*5421insCAGCCGCATGTCCCCCAGCAGCCCCCACAGACCCACCCG|||||4565|,ACAGCCGCATGTCCCCCAGCAGCCCCCACAGACCCACCCG|intron_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding|8/14|c.910-73_910-72insCGGGTGGGTCTGTGGGGGCTGCTGGGGGACATGCGGCTG||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:14:195,14,0
chr1	1341550	rs372060668;rs75244934	GCA	G	501.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.36;SOR=2.147;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs75244934,rs372060668;dbSNPBuildID=131,138;ANN=G|upstream_gene_variant|MODIFIER|MIR6808|MIR6808|transcript|NR_106866.1|pseudogene||n.-1844_-1843delTG|||||1843|,G|intron_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding|5/14|c.605+115_605+116delTG||||||;p3_1000G_AC=1886;p3_1000G_AF=0.376597;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=26985;p3_1000G_EAS_AF=0.8611;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1276930;p3_1000G_GRCH37_REF=GCA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,13:13:39:539,39,0
chr1	1341593	rs145370195;rs188969152	G	GACAC	547.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=2.147;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs145370195;dbSNPBuildID=134;ANN=GACAC|upstream_gene_variant|MODIFIER|MIR6808|MIR6808|transcript|NR_106866.1|pseudogene||n.-1889_-1886dupGTGT|||||1886|,GACAC|intron_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding|5/14|c.605+70_605+73dupGTGT||||||;p3_1000G_AC=3741;p3_1000G_AF=0.747005;p3_1000G_AFR_AF=0.7239;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=24943;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.8091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1276973;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,13:13:39:585,39,0
chr1	1342153	rs307362	T	C	1647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.157;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs307362;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|DVL1|DVL1|transcript|NM_004421.2|protein_coding|4/15|c.366A>G|p.Pro122Pro|413/2924|366/2013|122/670||,C|upstream_gene_variant|MODIFIER|MIR6808|MIR6808|transcript|NR_106866.1|pseudogene||n.-2445A>G|||||2445|;p3_1000G_AA=c|||;p3_1000G_AC=4998;p3_1000G_AF=0.998003;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15079;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1277533;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4367,1;ESP6500_AA_GTC=2183,1,0;ESP6500_CDS_SIZES=NM_004421.2:2013;ESP6500_CG=-4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=17;ESP6500_EA_AC=8547,11;ESP6500_EA_GTC=4268,11,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004421.2:coding-synonymous;ESP6500_GL=DVL1;ESP6500_GRCh38_POSITION=1:1342153;ESP6500_GTC=6451,12,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004421.2:c.366A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004421.2:p.(P122);ESP6500_MAF=0.1285,0.0229,0.0928;ESP6500_TAC=12914,12	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1676,150,0
chr1	1342857	rs307361	T	C	839.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs307361;dbSNPBuildID=79;ANN=C|upstream_gene_variant|MODIFIER|MIR6808|MIR6808|transcript|NR_106866.1|pseudogene||n.-3149A>G|||||3149|,C|intron_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding|1/14|c.171-99A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=4766;p3_1000G_AF=0.951677;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=15829;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1278237;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:868,78,0
chr1	1349110	rs150789461	G	A	306.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs150789461;dbSNPBuildID=134;ANN=A|5_prime_UTR_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding|1/15|c.-45C>T|||||45|,A|downstream_gene_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282585.1|protein_coding||c.*4191C>T|||||3579|,A|downstream_gene_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282584.1|protein_coding||c.*4494C>T|||||3579|,A|downstream_gene_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_032348.3|protein_coding||c.*4494C>T|||||3579|,A|downstream_gene_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282583.1|protein_coding||c.*4494C>T|||||3579|,A|downstream_gene_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282582.1|protein_coding||c.*4494C>T|||||3579|;p3_1000G_AA=g|||;p3_1000G_AC=3821;p3_1000G_AF=0.762979;p3_1000G_AFR_AF=0.4902;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=2677;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.9155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1284490;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;ESP6500_AA_AC=2679,1071;ESP6500_AA_GTC=930,819,126;ESP6500_CDS_SIZES=NM_004421.2:2013;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=5;ESP6500_EA_AC=7093,349;ESP6500_EA_GTC=3376,341,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004421.2:utr-5;ESP6500_GL=DVL1;ESP6500_GRCh38_POSITION=1:1349110;ESP6500_GTC=4306,1160,130;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004421.2:c.-45C>T;ESP6500_MAF=4.6896,28.56,12.6876;ESP6500_TAC=9772,1420	GT:AD:DP:GQ:PL	1/1:0,10:10:30:335,30,0
chr1	1353203	rs3845295	C	G	455.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3845295;dbSNPBuildID=108;ANN=G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282585.1|protein_coding|10/10|c.*98G>C|||||98|,G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282584.1|protein_coding|9/9|c.*401G>C|||||401|,G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_032348.3|protein_coding|10/10|c.*401G>C|||||401|,G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282583.1|protein_coding|10/10|c.*401G>C|||||401|,G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282582.1|protein_coding|11/11|c.*401G>C|||||401|,G|upstream_gene_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding||c.-4138G>C|||||4091|;p3_1000G_AA=c|||;p3_1000G_AC=4225;p3_1000G_AF=0.84365;p3_1000G_AFR_AF=0.7322;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=18726;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.9254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1288583;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:484,48,0
chr1	1353443	rs2296471	A	G	471.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296471;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282584.1|protein_coding|9/9|c.*161T>C|||||161|,G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_032348.3|protein_coding|10/10|c.*161T>C|||||161|,G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282583.1|protein_coding|10/10|c.*161T>C|||||161|,G|3_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282582.1|protein_coding|11/11|c.*161T>C|||||161|,G|upstream_gene_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding||c.-4378T>C|||||4331|,G|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282585.1|protein_coding|9/9|c.1322-111T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3810;p3_1000G_AF=0.760783;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.8718;p3_1000G_AN=5008;p3_1000G_DP=15022;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1288823;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:500,36,0
chr1	1353987	rs140777846;rs35062587	CTG	C	1624.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=1.329;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs140777846;dbSNPBuildID=134;ANN=C|upstream_gene_variant|MODIFIER|DVL1|DVL1|transcript|NM_004421.2|protein_coding||c.-4924_-4923delCA|||||4876|,C|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282585.1|protein_coding|8/9|c.1222+41_1222+42delCA||||||,C|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282584.1|protein_coding|7/8|c.919+41_919+42delCA||||||,C|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_032348.3|protein_coding|8/9|c.1222+41_1222+42delCA||||||,C|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282583.1|protein_coding|8/9|c.1195+41_1195+42delCA||||||,C|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282582.1|protein_coding|9/10|c.1222+41_1222+42delCA||||||;p3_1000G_AC=4110;p3_1000G_AF=0.820687;p3_1000G_AFR_AF=0.6876;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=14868;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1289367;p3_1000G_GRCH37_REF=CTG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=INDEL;ESP6500_AA_AC=3225,1035;ESP6500_AA_GTC=1222,781,127;ESP6500_CDS_SIZES=NM_032348.2:1329;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=39;ESP6500_EA_AC=7711,535;ESP6500_EA_GTC=3614,483,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032348.2:intron;ESP6500_GL=MXRA8;ESP6500_GRCh38_POSITION=1:1353987;ESP6500_GTC=4836,1264,153;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_032348.2:c.1222+41_1222+42del2;ESP6500_MAF=6.488,24.2958,12.554;ESP6500_TAC=10936,1570	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1662,114,0
chr1	1354531	rs4970365	G	A	523.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970365;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282585.1|protein_coding|5/9|c.950-22C>T||||||,A|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282584.1|protein_coding|4/8|c.647-22C>T||||||,A|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_032348.3|protein_coding|5/9|c.950-22C>T||||||,A|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282583.1|protein_coding|5/9|c.923-22C>T||||||,A|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282582.1|protein_coding|6/10|c.950-22C>T||||||;p3_1000G_AA=N|||;p3_1000G_AC=4149;p3_1000G_AF=0.828474;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=11376;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.9215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1289911;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA_AC=3452,924;ESP6500_AA_GTC=1369,714,105;ESP6500_CDS_SIZES=NM_032348.2:1329;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=33;ESP6500_EA_AC=8023,537;ESP6500_EA_GTC=3767,489,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032348.2:intron;ESP6500_GL=MXRA8;ESP6500_GRCh38_POSITION=1:1354531;ESP6500_GTC=5136,1203,129;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032348.2:c.950-22C>T;ESP6500_MAF=6.2734,21.1152,11.2941;ESP6500_TAC=11475,1461	GT:AD:DP:GQ:PL	1/1:0,14:14:42:552,42,0
chr1	1361311	rs2765025	C	G	2257.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2765025;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282583.1|protein_coding|1/10|c.-48G>C|||||48|,G|upstream_gene_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282585.1|protein_coding||c.-2807G>C|||||2764|,G|upstream_gene_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282584.1|protein_coding||c.-2807G>C|||||2517|,G|upstream_gene_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_032348.3|protein_coding||c.-2807G>C|||||2517|,G|intron_variant|MODIFIER|MXRA8|MXRA8|transcript|NM_001282582.1|protein_coding|1/10|c.-44+2206G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4765;p3_1000G_AF=0.951478;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=21036;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1296691;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2286,228,0
chr1	1374694	rs2765035	C	G	1188.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=0.843;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2765035;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|AURKAIP1|AURKAIP1|transcript|NM_001127229.1|protein_coding|2/3|c.52+11G>C||||||,G|intron_variant|MODIFIER|AURKAIP1|AURKAIP1|transcript|NM_017900.2|protein_coding|2/3|c.52+11G>C||||||,G|intron_variant|MODIFIER|AURKAIP1|AURKAIP1|transcript|NM_001127230.1|protein_coding|2/3|c.52+11G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4152;p3_1000G_AF=0.829073;p3_1000G_AFR_AF=0.5825;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=14053;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.9364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1310074;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2871,1413;ESP6500_AA_GTC=973,925,244;ESP6500_CDS_SIZES=NM_017900.2:600,NM_001127230.1:600,NM_001127229.1:600;ESP6500_CG=-8.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=8026,370;ESP6500_EA_GTC=3847,332,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017900.2:intron,NM_001127230.1:intron,NM_001127229.1:intron;ESP6500_GL=AURKAIP1;ESP6500_GRCh38_POSITION=1:1374694;ESP6500_GTC=4820,1257,263;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_017900.2:c.52+11G>C,NM_001127230.1:c.52+11G>C,NM_001127229.1:c.52+11G>C;ESP6500_MAF=4.4069,32.9832,14.0615;ESP6500_TAC=10897,1783	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1217,123,0
chr1	1388565	rs111530797;rs70949586	GTC	G	32.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=-0.936;SOR=0.307;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs70949586,rs111530797;dbSNPBuildID=132,137;ANN=G|downstream_gene_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001039577.3|protein_coding||c.*4215_*4216delGA|||||3722|,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_030937.4|protein_coding|8/10|c.1007-502_1007-501delGA||||||,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320153.1|protein_coding|9/11|c.341-502_341-501delGA||||||,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320155.1|protein_coding|9/11|c.341-502_341-501delGA||||||,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NR_135154.1|pseudogene|10/12|n.3192+59_3192+60delGA||||||	GT:AD:DP:GQ:PL	0/1:6,4:10:70:70,0,89
chr1	1388583	rs772817241	CTA	C	48.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.434;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.43;ReadPosRankSum=0;SOR=1.206;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|downstream_gene_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001039577.3|protein_coding||c.*4197_*4198delTA|||||3704|,C|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_030937.4|protein_coding|8/10|c.1007-520_1007-519delTA||||||,C|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320153.1|protein_coding|9/11|c.341-520_341-519delTA||||||,C|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320155.1|protein_coding|9/11|c.341-520_341-519delTA||||||,C|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NR_135154.1|pseudogene|10/12|n.3192+41_3192+42delTA||||||	GT:AD:DP:GQ:PL	0/1:5,6:11:86:86,0,102
chr1	1395346	rs1240746	A	G	497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.28;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1240746;dbSNPBuildID=87;ANN=G|upstream_gene_variant|MODIFIER|LOC148413|LOC148413|transcript|NR_015434.1|pseudogene||n.-4184A>G|||||4184|,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_030937.4|protein_coding|4/10|c.594+48T>C||||||,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320153.1|protein_coding|4/11|c.-797+48T>C||||||,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320155.1|protein_coding|4/11|c.-87+48T>C||||||,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NR_135154.1|pseudogene|4/12|n.626+48T>C||||||,G|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001039577.3|protein_coding|4/5|c.594+48T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=3411;p3_1000G_AF=0.68111;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=14615;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.1809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1330726;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3561,841;ESP6500_AA_GTC=1449,663,89;ESP6500_CDS_SIZES=NM_030937.4:1563,NM_001039577.3:681;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=38;ESP6500_EA_AC=1491,7105;ESP6500_EA_GTC=141,1209,2948;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030937.4:intron,NM_001039577.3:intron;ESP6500_GL=CCNL2;ESP6500_GRCh38_POSITION=1:1395346;ESP6500_GTC=1590,1872,3037;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_030937.4:c.594+48T>C,NM_001039577.3:c.594+48T>C;ESP6500_MAF=17.3453,19.105,38.8675;ESP6500_TAC=5052,7946	GT:AD:DP:GQ:PL	1/1:0,17:17:51:526,51,0
chr1	1395491	rs567358928	T	C	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.13;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.4;SOR=1.75;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|missense_variant|MODERATE|CCNL2|CCNL2|transcript|NM_030937.4|protein_coding|4/11|c.497A>G|p.Asp166Gly|529/3115|497/1563|166/520||,C|missense_variant|MODERATE|CCNL2|CCNL2|transcript|NM_001039577.3|protein_coding|4/6|c.497A>G|p.Asp166Gly|529/1207|497/681|166/226||,C|5_prime_UTR_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320153.1|protein_coding|4/12|c.-894A>G|||||4633|,C|5_prime_UTR_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320155.1|protein_coding|4/12|c.-184A>G|||||4633|,C|upstream_gene_variant|MODIFIER|LOC148413|LOC148413|transcript|NR_015434.1|pseudogene||n.-4039T>C|||||4039|,C|non_coding_transcript_exon_variant|MODIFIER|CCNL2|CCNL2|transcript|NR_135154.1|pseudogene|4/13|n.529A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21068;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1330871;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:336,0,204
chr1	1398218	rs35242196	C	A	1653.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.848;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35242196;dbSNPBuildID=126;ANN=A|upstream_gene_variant|MODIFIER|LOC148413|LOC148413|transcript|NR_015434.1|pseudogene||n.-1312C>A|||||1312|,A|downstream_gene_variant|MODIFIER|MRPL20|MRPL20|transcript|NM_017971.3|protein_coding||c.*3865G>T|||||3678|,A|downstream_gene_variant|MODIFIER|MRPL20|MRPL20|transcript|NM_001318485.1|protein_coding||c.*4351G>T|||||3691|,A|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_030937.4|protein_coding|3/10|c.473+15G>T||||||,A|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320153.1|protein_coding|3/11|c.-918+15G>T||||||,A|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320155.1|protein_coding|3/11|c.-208+15G>T||||||,A|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NR_135154.1|pseudogene|3/12|n.505+15G>T||||||,A|intron_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001039577.3|protein_coding|3/5|c.473+15G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1856;p3_1000G_AF=0.370607;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=21364;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1333598;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=543,3863;ESP6500_AA_AGE=245.6+/-254.5;ESP6500_AA_GTC=47,449,1707;ESP6500_CDS_SIZES=NM_030937.4:1563,NM_001039577.3:681;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=129;ESP6500_EA_AC=944,7656;ESP6500_EA_AGE=206.9+/-248.8;ESP6500_EA_GTC=59,826,3415;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030937.4:intron,NM_001039577.3:intron;ESP6500_GL=CCNL2;ESP6500_GRCh38_POSITION=1:1398218;ESP6500_GTC=106,1275,5122;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_030937.4:c.473+15G>T,NM_001039577.3:c.473+15G>T;ESP6500_MAF=10.9767,12.3241,11.4332;ESP6500_TAC=1487,11519	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1682,153,0
chr1	1402457	rs1240709	A	G	530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.92;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1240709;dbSNPBuildID=87;ANN=G|3_prime_UTR_variant|MODIFIER|MRPL20|MRPL20|transcript|NM_001318485.1|protein_coding|4/4|c.*112T>C|||||112|,G|upstream_gene_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_030937.4|protein_coding||c.-3151T>C|||||3119|,G|upstream_gene_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320153.1|protein_coding||c.-11599T>C|||||3119|,G|upstream_gene_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001320155.1|protein_coding||c.-11599T>C|||||3119|,G|upstream_gene_variant|MODIFIER|CCNL2|CCNL2|transcript|NR_135154.1|pseudogene||n.-3119T>C|||||3119|,G|upstream_gene_variant|MODIFIER|CCNL2|CCNL2|transcript|NM_001039577.3|protein_coding||c.-3151T>C|||||3119|,G|downstream_gene_variant|MODIFIER|LOC148413|LOC148413|transcript|NR_015434.1|pseudogene||n.*411A>G|||||411|,G|intron_variant|MODIFIER|MRPL20|MRPL20|transcript|NM_017971.3|protein_coding|3/3|c.277-201T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3431;p3_1000G_AF=0.685104;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=18818;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.1839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1337837;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6667;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:559,42,0
chr1	1407232	rs2275915	G	C	1338.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275915;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|MRPL20|MRPL20|transcript|NM_017971.3|protein_coding|1/4|c.-15C>G|||||15|,C|5_prime_UTR_variant|MODIFIER|MRPL20|MRPL20|transcript|NM_001318485.1|protein_coding|1/4|c.-15C>G|||||15|;p3_1000G_AA=G|||;p3_1000G_AC=2155;p3_1000G_AF=0.430312;p3_1000G_AFR_AF=0.2383;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=13188;p3_1000G_EAS_AF=0.871;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1342612;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1035,3331;ESP6500_AA_GTC=135,765,1283;ESP6500_CDS_SIZES=NM_017971.3:450;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=11;ESP6500_EA_AC=1423,7133;ESP6500_EA_GTC=142,1139,2997;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017971.3:utr-5;ESP6500_GL=MRPL20;ESP6500_GRCh38_POSITION=1:1407232;ESP6500_GTC=277,1904,4280;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017971.3:c.-15C>G;ESP6500_MAF=16.6316,23.7059,19.0218;ESP6500_TAC=2458,10464	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1367,129,0
chr1	1426253	rs12022947	G	A	1319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12022947;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|TMEM88B|TMEM88B|transcript|NM_001146685.1|protein_coding|1/2|c.126G>A|p.Ser42Ser|126/492|126/492|42/163||,A|upstream_gene_variant|MODIFIER|ANKRD65|ANKRD65|transcript|NM_001145210.2|protein_coding||c.-5248C>T|||||4809|,A|upstream_gene_variant|MODIFIER|ANKRD65|ANKRD65|transcript|NM_001243535.1|protein_coding||c.-5248C>T|||||4809|,A|upstream_gene_variant|MODIFIER|ANKRD65|ANKRD65|transcript|NM_001243536.1|protein_coding||c.-5248C>T|||||4809|,A|downstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125994.1|pseudogene||n.*3904C>T|||||3904|,A|downstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125995.1|pseudogene||n.*3904C>T|||||3904|,A|downstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125996.1|pseudogene||n.*3904C>T|||||3904|;p3_1000G_AA=G|||;p3_1000G_AC=2003;p3_1000G_AF=0.39996;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=12109;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.1193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1361633;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:93:1|1:1426253_G_A:1348,93,0
chr1	1426261	rs12030806	C	T	1294.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12030806;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|TMEM88B|TMEM88B|transcript|NM_001146685.1|protein_coding|1/2|c.134C>T|p.Pro45Leu|134/492|134/492|45/163||,T|upstream_gene_variant|MODIFIER|ANKRD65|ANKRD65|transcript|NM_001145210.2|protein_coding||c.-5256G>A|||||4817|,T|upstream_gene_variant|MODIFIER|ANKRD65|ANKRD65|transcript|NM_001243535.1|protein_coding||c.-5256G>A|||||4817|,T|upstream_gene_variant|MODIFIER|ANKRD65|ANKRD65|transcript|NM_001243536.1|protein_coding||c.-5256G>A|||||4817|,T|downstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125994.1|pseudogene||n.*3896G>A|||||3896|,T|downstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125995.1|pseudogene||n.*3896G>A|||||3896|,T|downstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125996.1|pseudogene||n.*3896G>A|||||3896|;p3_1000G_AA=T|||;p3_1000G_AC=3412;p3_1000G_AF=0.68131;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=12040;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1361641;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:90:1|1:1426253_G_A:1323,90,0
chr1	1439454	rs1892289	A	G	46.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1892289;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|VWA1|VWA1|transcript|NM_022834.4|protein_coding|3/3|c.1005A>G|p.Pro335Pro|1231/4659|1005/1338|335/445||,G|3_prime_UTR_variant|MODIFIER|VWA1|VWA1|transcript|NM_199121.2|protein_coding|3/3|c.*415A>G|||||2011|,G|upstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125994.1|pseudogene||n.-4881T>C|||||4881|,G|upstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125995.1|pseudogene||n.-4881T>C|||||4881|,G|upstream_gene_variant|MODIFIER|LOC102724312|LOC102724312|transcript|NR_125996.1|pseudogene||n.-4881T>C|||||4881|;p3_1000G_AA=N|||;p3_1000G_AC=3354;p3_1000G_AF=0.669728;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=5371;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1374834;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:74,6,0
chr1	1439805	rs1240699	G	C	112.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1240699;dbSNPBuildID=87;ANN=C|3_prime_UTR_variant|MODIFIER|VWA1|VWA1|transcript|NM_022834.4|protein_coding|3/3|c.*18G>C|||||18|,C|3_prime_UTR_variant|MODIFIER|VWA1|VWA1|transcript|NM_199121.2|protein_coding|3/3|c.*766G>C|||||2362|;p3_1000G_AA=g|||;p3_1000G_AC=2317;p3_1000G_AF=0.46266;p3_1000G_AFR_AF=0.3926;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=4016;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.1312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1375185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:141,15,0
chr1	1452511	rs1624483	A	G	1969.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.18;QD=29.94;SOR=2.024;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1624483;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|3/11|c.222+77A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=3403;p3_1000G_AF=0.679513;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=17241;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1387891;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,55:55:99:1|1:1452509_C_A:1998,165,0
chr1	1454315	rs2986582	C	T	978.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.61;QD=31.57;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35096659;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|3/11|c.223-30C>T||||||;p3_1000G_AA=N|||;p3_1000G_AC=3346;p3_1000G_AF=0.668131;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=14049;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.1948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1389695;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1007,93,0
chr1	1454579	rs368276632	T	C	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.7;QD=31.54;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs368276632;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|4/11|c.378+79T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=14277;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1389959;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:1454579_T_C:765,51,0
chr1	1454581	rs562589112	T	C	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.7;QD=28.86;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|4/11|c.378+81T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=14309;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1389961;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:1454579_T_C:765,51,0
chr1	1454582	rs531606278	A	C	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.24;QD=29.41;SOR=5.549;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|4/11|c.378+82A>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=14458;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1389962;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:51:1|1:1454579_T_C:765,51,0
chr1	1454587	rs1695863	T	C	601.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.79;QD=31.11;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1695863;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|4/11|c.378+87T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=14568;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1389967;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:42:1|1:1454579_T_C:630,42,0
chr1	1454612	rs200487494	A	G	275.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.02;QD=34.47;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200487494;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|4/11|c.378+112A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1195;p3_1000G_AF=0.238618;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=14971;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1389992;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:304,24,0
chr1	1455617	rs1781148	T	G	1598.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=1.28;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1781148;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|5/11|c.438+98T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=3407;p3_1000G_AF=0.680312;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=14456;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1390997;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1627,135,0
chr1	1456217	rs2489824	T	C	431.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.3;QD=33.21;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71628970;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|6/11|c.565-8T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:39:1|1:1456217_T_C:460,39,0
chr1	1457346	rs77814176	G	A	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.271;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.61;SOR=1.942;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77814176;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|8/11|c.741+166G>A||||||;p3_1000G_AA=N|||;p3_1000G_AC=1015;p3_1000G_AF=0.202676;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=15313;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1392726;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:283,0,289
chr1	1459004	rs1751469	T	C	230.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.02;QD=29.4;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1751469;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|8/11|c.742-157T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2074;p3_1000G_AF=0.414137;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=17964;p3_1000G_EAS_AF=0.6022;p3_1000G_EUR_AF=0.0378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1394384;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:1459004_T_C:259,18,0
chr1	1459008	rs144528634	C	T	22.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.221;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.35;MQRankSum=0.549;QD=2.53;ReadPosRankSum=1.73;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144528634;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|8/11|c.742-153C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=301;p3_1000G_AF=0.0601038;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=18294;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.0229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1394388;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,2:9:51:0|1:1459004_T_C:51,0,252
chr1	1459273	rs34719940	T	C	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.168;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.835;MLEAC=1;MLEAF=0.5;MQ=46.26;MQRankSum=1.17;QD=7.54;ReadPosRankSum=0.217;SOR=0.324;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34719940;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|9/11|c.812+42T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=1351;p3_1000G_AF=0.269768;p3_1000G_AFR_AF=0.4107;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=14613;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1394653;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=473,911;ESP6500_AA_GTC=83,307,302;ESP6500_CDS_SIZES=NM_001039211.2:1236;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=36;ESP6500_EA_AC=21,3161;ESP6500_EA_GTC=0,21,1570;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039211.2:intron;ESP6500_GL=ATAD3C;ESP6500_GRCh38_POSITION=1:1459273;ESP6500_GTC=83,328,1872;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039211.2:c.812+42T>C;ESP6500_MAF=0.66,34.1763,10.8191;ESP6500_TAC=494,4072	GT:AD:DP:GQ:PL	0/1:27,17:44:99:360,0,672
chr1	1459283	rs76548509	AC	A	404.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.36;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=7.287;MLEAC=1;MLEAF=0.5;MQ=46.89;MQRankSum=0.864;QD=9.64;ReadPosRankSum=1.19;SOR=0.16;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs76548509;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|9/11|c.812+55delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=ccc|CCC|CC|deletion;p3_1000G_AC=1353;p3_1000G_AF=0.270168;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=14586;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1394663;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=INDEL;ESP6500_AA_AC=1482,2720;ESP6500_AA_GTC=271,940,890;ESP6500_CDS_SIZES=NM_001039211.2:1236;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=39;ESP6500_EA_AC=61,7971;ESP6500_EA_GTC=1,59,3956;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039211.2:intron;ESP6500_GL=ATAD3C;ESP6500_GRCh38_POSITION=1:1459283;ESP6500_GTC=272,999,4846;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001039211.2:c.812+53del1;ESP6500_MAF=0.7595,35.2689,12.6124;ESP6500_TAC=1543,10691	GT:AD:DP:GQ:PL	0/1:26,16:42:99:442,0,799
chr1	1459357	rs75201061	C	A	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.943;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.55;MQRankSum=0.261;QD=10.16;ReadPosRankSum=-1.529;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75201061;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|9/11|c.812+126C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1425;p3_1000G_AF=0.284545;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=16116;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1394737;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:201,0,254
chr1	1460858	rs72896283	G	T	577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.11;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=4.913;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.725;SOR=1.563;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72896283;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|10/12|c.921G>T|p.Ala307Ala|1916/3859|921/1236|307/411||;p3_1000G_AA=g|||;p3_1000G_AC=1293;p3_1000G_AF=0.258187;p3_1000G_AFR_AF=0.3691;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=15872;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1396238;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=413,971;ESP6500_AA_GTC=69,275,348;ESP6500_CDS_SIZES=NM_001039211.2:1236;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=100;ESP6500_EA_AC=20,3162;ESP6500_EA_GTC=0,20,1571;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039211.2:coding-synonymous;ESP6500_GL=ATAD3C;ESP6500_GRCh38_POSITION=1:1460858;ESP6500_GTC=69,295,1919;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039211.2:c.921G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001039211.2:p.(A307);ESP6500_MAF=0.6285,29.841,9.4831;ESP6500_TAC=433,4133	GT:AD:DP:GQ:PL	0/1:16,22:38:99:606,0,402
chr1	1460958	rs76815729	G	A	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-0.735;SOR=0.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76815729;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|10/11|c.980+41G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1280;p3_1000G_AF=0.255591;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=15601;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1396338;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=406,978;ESP6500_AA_GTC=66,274,352;ESP6500_CDS_SIZES=NM_001039211.2:1236;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=44;ESP6500_EA_AC=20,3162;ESP6500_EA_GTC=0,20,1571;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039211.2:intron;ESP6500_GL=ATAD3C;ESP6500_GRCh38_POSITION=1:1460958;ESP6500_GTC=66,294,1923;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039211.2:c.980+41G>A;ESP6500_MAF=0.6285,29.3353,9.3298;ESP6500_TAC=426,4140	GT:AD:DP:GQ:PL	0/1:7,5:12:99:123,0,262
chr1	1468434	rs146537972	C	T	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.135;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-0.88;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146537972;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|12/12|c.1140C>T|p.Asp380Asp|2135/3859|1140/1236|380/411||,T|upstream_gene_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding||c.-3451C>T|||||3321|;p3_1000G_AA=N|||;p3_1000G_AC=386;p3_1000G_AF=0.0770767;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=15876;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.0388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1403814;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=231,4171;ESP6500_AA_GTC=8,215,1978;ESP6500_CDS_SIZES=NM_001039211.2:1236;ESP6500_CG=-2.5;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=39;ESP6500_EA_AC=265,8325;ESP6500_EA_GTC=7,251,4037;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039211.2:coding-synonymous;ESP6500_GL=ATAD3C;ESP6500_GRCh38_POSITION=1:1468434;ESP6500_GTC=15,466,6015;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039211.2:c.1140C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001039211.2:p.(D380);ESP6500_MAF=3.085,5.2476,3.8177;ESP6500_TAC=496,12496	GT:AD:DP:GQ:PL	0/1:20,14:34:99:307,0,550
chr1	1468592	rs111566296	C	CG	456.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.84;QD=32.62;SOR=1.765;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs111566296;dbSNPBuildID=132;ANN=CG|3_prime_UTR_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|12/12|c.*64dupG|||||65|INFO_REALIGN_3_PRIME,CG|upstream_gene_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding||c.-3293_-3292insG|||||3162|;p3_1000G_AA=|||unknown(ALL_OTHER_Ns);p3_1000G_AC=2078;p3_1000G_AF=0.414936;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=13510;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.0795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1403972;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:42:494,42,0
chr1	1468621	rs149123833	G	T	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.054;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.04;MQRankSum=-0.9;QD=13.43;ReadPosRankSum=-0.528;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149123833;dbSNPBuildID=134;ANN=T|3_prime_UTR_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|12/12|c.*91G>T|||||91|,T|upstream_gene_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding||c.-3264G>T|||||3134|;p3_1000G_AA=N|||;p3_1000G_AC=339;p3_1000G_AF=0.0676917;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=13358;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.0388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1404001;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=96,3676;ESP6500_AA_GTC=2,92,1792;ESP6500_CDS_SIZES=NM_001039211.2:1236;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=10;ESP6500_EA_AC=238,7942;ESP6500_EA_GTC=2,234,3854;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039211.2:utr-3;ESP6500_GL=ATAD3C;ESP6500_GRCh38_POSITION=1:1468621;ESP6500_GTC=4,326,5646;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039211.2:c.*91G>T;ESP6500_MAF=2.9095,2.5451,2.7945;ESP6500_TAC=334,11618	GT:AD:DP:GQ:PL	0/1:5,6:11:99:176,0,142
chr1	1468636	rs12089719	G	A	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.18;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.36;MQRankSum=1.26;QD=11.64;ReadPosRankSum=0.7;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12089719;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding|12/12|c.*106G>A|||||106|,A|upstream_gene_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding||c.-3249G>A|||||3119|;p3_1000G_AA=N|||;p3_1000G_AC=1415;p3_1000G_AF=0.282548;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=13663;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1404016;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1337,2365;ESP6500_AA_GTC=241,855,755;ESP6500_CDS_SIZES=NM_001039211.2:1236;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=10;ESP6500_EA_AC=57,8093;ESP6500_EA_GTC=2,53,4020;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039211.2:utr-3;ESP6500_GL=ATAD3C;ESP6500_GRCh38_POSITION=1:1468636;ESP6500_GTC=243,908,4775;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039211.2:c.*106G>A;ESP6500_MAF=0.6994,36.1156,11.7617;ESP6500_TAC=1394,10458	GT:AD:DP:GQ:PL	0/1:5,4:9:99:133,0,140
chr1	1471992	rs188574574	T	C	107.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.41;QD=26.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs188574574;dbSNPBuildID=135;ANN=C|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|1/16|c.108T>C|p.Gly36Gly|238/2464|108/1947|36/648||,C|downstream_gene_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding||c.*3462T>C|||||1834|;p3_1000G_AA=N|||;p3_1000G_AC=3444;p3_1000G_AF=0.6877;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=4852;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.2177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1407372;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:135,12,0
chr1	1472158	rs78689788	C	G	193.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.63;QD=24.22;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78689788;dbSNPBuildID=131;ANN=G|sequence_feature|LOW|ATAD3B|ATAD3B|coiled-coil-region:match_to_sequence_model_evidence_used_in_manual_assertion|NM_031921.5|protein_coding|1/15|c.205+69C>G||||||,G|downstream_gene_variant|MODIFIER|ATAD3C|ATAD3C|transcript|NM_001039211.2|protein_coding||c.*3628C>G|||||2000|,G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|1/15|c.205+69C>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1945;p3_1000G_AF=0.388379;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=3634;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1407538;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:222,24,0
chr1	1479205	rs1153101	A	C	102.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.2;QD=25.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1153101;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|4/15|c.444+97A>C||||||,C|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|2/13|c.306+97A>C||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:130,12,0
chr1	1480990	rs1153096	T	C	216.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.14;QD=36.76;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1153096;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|5/15|c.514+54T>C||||||,C|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|3/13|c.376+54T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2189;p3_1000G_AF=0.437101;p3_1000G_AFR_AF=0.8162;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=8862;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1416370;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:245,18,0
chr1	1482316	rs819970	C	G	2478.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.36;QD=32.62;SOR=1.432;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs819970;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|6/15|c.680+13C>G||||||,G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|4/13|c.542+13C>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4465;p3_1000G_AF=0.891573;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=12024;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.6809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1417696;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2507,228,0
chr1	1482402	rs819971	A	G	1330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.55;QD=34.12;SOR=1.096;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs819971;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|6/15|c.680+99A>G||||||,G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|4/13|c.542+99A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=2722;p3_1000G_AF=0.54353;p3_1000G_AFR_AF=0.9486;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=14625;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1417782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1359,117,0
chr1	1482624	rs819972	T	C	3267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.96;QD=33.01;SOR=1.261;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs819972;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|7/15|c.750+10T>C||||||,C|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|5/13|c.612+10T>C||||||;ESP6500_AA=C;ESP6500_AA_AC=2627,1779;ESP6500_AA_GTC=1140,347,716;ESP6500_CDS_SIZES=NM_031921.4:1947;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=75;ESP6500_EA_AC=388,8210;ESP6500_EA_GTC=41,306,3952;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031921.4:intron;ESP6500_GL=ATAD3B;ESP6500_GRCh38_POSITION=1:1482624;ESP6500_GTC=1181,653,4668;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031921.4:c.750+10T>C;ESP6500_MAF=4.5127,40.3768,23.1852;ESP6500_TAC=3015,9989	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3296,297,0
chr1	1485129	rs368131751	G	A	674.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.33;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=2.155;MLEAC=1;MLEAF=0.5;MQ=58.65;MQRankSum=1.27;QD=10.71;ReadPosRankSum=-0.717;SOR=0.421;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368131751;dbSNPBuildID=138;ANN=A|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|8/16|c.864G>A|p.Thr288Thr|994/2464|864/1947|288/648||,A|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|6/14|c.726G>A|p.Thr242Thr|1111/2581|726/1809|242/602||;p3_1000G_AA=g|||;p3_1000G_AC=13;p3_1000G_AF=0.00259585;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15573;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1420509;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,32:63:99:703,0,848
chr1	1485282	rs3736372	A	G	607.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.82;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=6.605;MLEAC=1;MLEAF=0.5;MQ=51.24;MQRankSum=-5.349;QD=16.88;ReadPosRankSum=1.12;SOR=2.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736372;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|8/15|c.906+111A>G||||||,G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|6/13|c.768+111A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1666;p3_1000G_AF=0.332668;p3_1000G_AFR_AF=0.5832;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=17634;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1420662;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,19:36:99:636,0,403
chr1	1486151	rs819976	C	A	5210.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=181;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.79;SOR=0.704;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs819976;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|10/16|c.1005C>A|p.Thr335Thr|1135/2464|1005/1947|335/648||,A|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|8/14|c.867C>A|p.Thr289Thr|1252/2581|867/1809|289/602||;p3_1000G_AA=N|||;p3_1000G_AC=2417;p3_1000G_AF=0.482628;p3_1000G_AFR_AF=0.8502;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=17732;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.0924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1421531;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3215,1191;ESP6500_AA_GTC=1192,831,180;ESP6500_CDS_SIZES=NM_031921.4:1947;ESP6500_CG=1.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=87;ESP6500_EA_AC=617,7981;ESP6500_EA_GTC=35,547,3717;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031921.4:coding-synonymous;ESP6500_GL=ATAD3B;ESP6500_GRCh38_POSITION=1:1486151;ESP6500_GTC=1227,1378,3897;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_031921.4:c.1005C>A;ESP6500_HGVS_PROTEIN_VAR=NM_031921.4:p.(T335);ESP6500_MAF=7.1761,27.0313,29.4679;ESP6500_TAC=3832,9172	GT:AD:DP:GQ:PL	1/1:0,181:181:99:5239,541,0
chr1	1486354	rs77085485	G	C	620.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.57;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=1.55;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77085485;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|10/15|c.1089+119G>C||||||,C|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|8/13|c.951+119G>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1457;p3_1000G_AF=0.290935;p3_1000G_AFR_AF=0.4856;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=16830;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1421734;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,19:35:99:649,0,435
chr1	1486372	rs146336885	G	A	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.987;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.149;SOR=0.861;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146336885;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|10/15|c.1089+137G>A||||||,A|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|8/13|c.951+137G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=370;p3_1000G_AF=0.0738818;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=16737;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1421752;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,15:33:99:467,0,664
chr1	1486396	rs79881454	C	G	662.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.13;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=1.49;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79881454;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|10/15|c.1090-148C>G||||||,G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|8/13|c.952-148C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=1197;p3_1000G_AF=0.239018;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=16910;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1421776;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,19:40:99:691,0,694
chr1	1486611	rs860213	G	A	2358.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.49;QD=32.31;SOR=1.917;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs860213;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|11/16|c.1157G>A|p.Arg386Gln|1287/2464|1157/1947|386/648||,A|missense_variant|MODERATE|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|9/14|c.1019G>A|p.Arg340Gln|1404/2581|1019/1809|340/602||;p3_1000G_AA=g|||;p3_1000G_AC=1934;p3_1000G_AF=0.386182;p3_1000G_AFR_AF=0.5817;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=17137;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.0795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1421991;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2387,219,0
chr1	1487887	rs819977	A	G	3141.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=0.93;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs819977;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|12/16|c.1239A>G|p.Ala413Ala|1369/2464|1239/1947|413/648||,G|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|10/14|c.1101A>G|p.Ala367Ala|1486/2581|1101/1809|367/602||;p3_1000G_AA=N|||;p3_1000G_AC=2438;p3_1000G_AF=0.486821;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=14715;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.0994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1423267;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3208,1198;ESP6500_AA_GTC=1182,844,177;ESP6500_CDS_SIZES=NM_031921.4:1947;ESP6500_CG=-5.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=101;ESP6500_EA_AC=715,7883;ESP6500_EA_GTC=44,627,3628;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031921.4:coding-synonymous;ESP6500_GL=ATAD3B;ESP6500_GRCh38_POSITION=1:1487887;ESP6500_GTC=1226,1471,3805;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031921.4:c.1239A>G;ESP6500_HGVS_PROTEIN_VAR=NM_031921.4:p.(A413);ESP6500_MAF=8.3159,27.1902,30.1676;ESP6500_TAC=3923,9081	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3170,303,0
chr1	1490122	rs2242395	A	G	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.233;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.522;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242395;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|13/15|c.1338-135A>G||||||,G|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|11/13|c.1200-135A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1277;p3_1000G_AF=0.254992;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=12672;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1425502;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:262,0,204
chr1	1490320	rs819980	T	C	1271.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs819980;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|14/16|c.1401T>C|p.Ile467Ile|1531/2464|1401/1947|467/648||,C|synonymous_variant|LOW|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|12/14|c.1263T>C|p.Ile421Ile|1648/2581|1263/1809|421/602||;p3_1000G_AA=N|||;p3_1000G_AC=2433;p3_1000G_AF=0.485823;p3_1000G_AFR_AF=0.8487;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=16643;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.0994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1425700;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3224,1180;ESP6500_AA_GTC=1194,836,172;ESP6500_CDS_SIZES=NM_031921.4:1947;ESP6500_CG=-2.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=75;ESP6500_EA_AC=714,7884;ESP6500_EA_GTC=45,624,3630;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031921.4:coding-synonymous;ESP6500_GL=ATAD3B;ESP6500_GRCh38_POSITION=1:1490320;ESP6500_GTC=1239,1460,3802;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031921.4:c.1401T>C;ESP6500_HGVS_PROTEIN_VAR=NM_031921.4:p.(I467);ESP6500_MAF=8.3043,26.7938,30.2876;ESP6500_TAC=3938,9064	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1300,120,0
chr1	1490436	rs149187984	G	A	897.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.834;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=2.19;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.905;SOR=1.109;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149187984;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|14/15|c.1505+12G>A||||||,A|intron_variant|MODIFIER|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|12/13|c.1367+12G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=395;p3_1000G_AF=0.0788738;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=16211;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1425816;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=144,4262;ESP6500_AA_GTC=3,138,2062;ESP6500_CDS_SIZES=NM_031921.4:1947;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=42;ESP6500_EA_AC=480,8116;ESP6500_EA_GTC=21,438,3839;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031921.4:intron;ESP6500_GL=ATAD3B;ESP6500_GRCh38_POSITION=1:1490436;ESP6500_GTC=24,576,5901;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031921.4:c.1505+12G>A;ESP6500_MAF=5.584,3.2683,4.7993;ESP6500_TAC=624,12378	GT:AD:DP:GQ:PL	0/1:30,35:65:99:926,0,750
chr1	1495605	rs139902189	C	T	1222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.025;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.616;SOR=0.68;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139902189;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|16/16|c.1735C>T|p.Arg579Cys|1865/2464|1735/1947|579/648||,T|missense_variant|MODERATE|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|14/14|c.1597C>T|p.Arg533Cys|1982/2581|1597/1809|533/602||;p3_1000G_AA=N|||;p3_1000G_AC=393;p3_1000G_AF=0.0784744;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=16776;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1430985;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=145,4261;ESP6500_AA_AGE=99.8+/-138.5;ESP6500_AA_GTC=3,139,2061;ESP6500_CDS_SIZES=NM_031921.4:1947;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=48;ESP6500_EA_AC=480,8112;ESP6500_EA_AGE=139.5+/-196.2;ESP6500_EA_GTC=21,438,3837;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031921.4:missense;ESP6500_GL=ATAD3B;ESP6500_GRCh38_POSITION=1:1495605;ESP6500_GS=180;ESP6500_GTC=24,577,5898;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_031921.4:c.1735C>T;ESP6500_HGVS_PROTEIN_VAR=NM_031921.4:p.(R579C);ESP6500_MAF=5.5866,3.291,4.8084;ESP6500_PH=probably-damaging:0.99;ESP6500_TAC=625,12373	GT:AD:DP:GQ:PL	0/1:34,48:82:99:1251,0,892
chr1	1495785	rs9792879	C	T	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.469;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=11.761;MLEAC=1;MLEAF=0.5;MQ=57.15;MQRankSum=-4.586;QD=6.33;ReadPosRankSum=1.2;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9792879;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|ATAD3B|ATAD3B|transcript|NM_031921.5|protein_coding|16/16|c.1915C>T|p.Pro639Ser|2045/2464|1915/1947|639/648||,T|missense_variant|MODERATE|ATAD3B|ATAD3B|transcript|NM_001317238.1|protein_coding|14/14|c.1777C>T|p.Pro593Ser|2162/2581|1777/1809|593/602||	GT:AD:DP:GQ:PGT:PID:PL	0/1:43,26:69:99:0|1:1495785_C_T:465,0,1302
chr1	1512312	rs2274435	G	A	86.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.98;MQRankSum=-1.068;QD=12.4;ReadPosRankSum=0.18;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274435;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|1/16|c.44G>A|p.Gly15Asp|170/2646|44/1905|15/634||,A|missense_variant|MODERATE|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|1/16|c.44G>A|p.Gly15Asp|170/2502|44/1761|15/586||,A|upstream_gene_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding||c.-3732G>A|||||218|;p3_1000G_AA=g|||;p3_1000G_AC=900;p3_1000G_AF=0.179712;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=5933;p3_1000G_EAS_AF=0.3343;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1447692;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=275,2405;ESP6500_AA_GTC=2,271,1067;ESP6500_CDS_SIZES=NM_018188.3:1905,NM_001170535.1:1761;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=2;ESP6500_EA_AC=18,6192;ESP6500_EA_GTC=0,18,3087;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018188.3:missense,NM_001170535.1:missense;ESP6500_GL=ATAD3A;ESP6500_GRCh38_POSITION=1:1512312;ESP6500_GS=94,94;ESP6500_GTC=2,289,4154;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018188.3:c.44G>A,NM_001170535.1:c.44G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018188.3:p.(G15D),NM_001170535.1:p.(G15D);ESP6500_MAF=0.2899,10.2612,3.2958;ESP6500_PH=possibly-damaging:0.608,possibly-damaging:0.608;ESP6500_TAC=293,8597	GT:AD:DP:GQ:PL	0/1:2,5:7:65:115,0,65
chr1	1516000	rs9439458	T	C	1560.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=116;ExcessHet=3.0103;FS=5.739;MLEAC=1;MLEAF=0.5;MQ=59.38;MQRankSum=0.198;QD=13.69;ReadPosRankSum=1.25;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9439458;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|1/15|c.206-12T>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|1/15|c.206-12T>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|1/15|c.-32-12T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2358;p3_1000G_AF=0.470847;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19430;p3_1000G_EAS_AF=0.506;p3_1000G_EUR_AF=0.1421;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1451380;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3226,1180;ESP6500_AA_AGE=398.8+/-331.0;ESP6500_AA_GTC=1186,854,163;ESP6500_CDS_SIZES=NM_018188.3:1905,NM_001170536.1:1524,NM_001170535.1:1761;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=39;ESP6500_EA_AC=1177,7423;ESP6500_EA_AGE=759.0+/-407.5;ESP6500_EA_GTC=90,997,3213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018188.3:intron,NM_001170536.1:intron,NM_001170535.1:intron;ESP6500_GL=ATAD3A;ESP6500_GRCh38_POSITION=1:1516000;ESP6500_GTC=1276,1851,3376;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018188.3:c.206-12T>C,NM_001170536.1:c.-44T>C,NM_001170535.1:c.206-12T>C;ESP6500_MAF=13.686,26.7817,33.8536;ESP6500_TAC=4403,8603	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1589,0,1577
chr1	1516109	rs9439459;rs76717221	T	C	1539.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=6.632;MLEAC=1;MLEAF=0.5;MQ=56.58;MQRankSum=-3.556;QD=20;ReadPosRankSum=0.697;SOR=0.256;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9439459;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|2/15|c.282+21T>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|2/15|c.282+21T>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|2/15|c.45+21T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=1446;p3_1000G_AF=0.288738;p3_1000G_AFR_AF=0.5045;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=15432;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.0378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1451489;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1650,2752;ESP6500_AA_GTC=381,888,932;ESP6500_CDS_SIZES=NM_018188.3:1905,NM_001170536.1:1524,NM_001170535.1:1761;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=20;ESP6500_EA_AC=137,8437;ESP6500_EA_GTC=5,127,4155;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018188.3:intron,NM_001170536.1:intron,NM_001170535.1:intron;ESP6500_GL=ATAD3A;ESP6500_GRCh38_POSITION=1:1516109;ESP6500_GTC=386,1015,5087;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018188.3:c.282+21T>C,NM_001170536.1:c.45+21T>C,NM_001170535.1:c.282+21T>C;ESP6500_MAF=1.5979,37.483,13.7716;ESP6500_TAC=1787,11189	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,40:77:99:0|1:1516109_T_C:1568,0,2296
chr1	1516110	rs9439460	G	A	1539.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.098;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=7.019;MLEAC=1;MLEAF=0.5;MQ=56.54;MQRankSum=-3.489;QD=20.26;ReadPosRankSum=0.565;SOR=0.207;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9439460;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|2/15|c.282+22G>A||||||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|2/15|c.282+22G>A||||||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|2/15|c.45+22G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1424;p3_1000G_AF=0.284345;p3_1000G_AFR_AF=0.4894;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=15357;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.0378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1451490;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1531,2867;ESP6500_AA_GTC=336,859,1004;ESP6500_CDS_SIZES=NM_018188.3:1905,NM_001170536.1:1524,NM_001170535.1:1761;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=19;ESP6500_EA_AC=127,8437;ESP6500_EA_GTC=5,117,4160;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018188.3:intron,NM_001170536.1:intron,NM_001170535.1:intron;ESP6500_GL=ATAD3A;ESP6500_GRCh38_POSITION=1:1516110;ESP6500_GTC=341,976,5164;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018188.3:c.282+22G>A,NM_001170536.1:c.45+22G>A,NM_001170535.1:c.282+22G>A;ESP6500_MAF=1.483,34.8113,12.7912;ESP6500_TAC=1658,11304	GT:AD:DP:GQ:PGT:PID:PL	0/1:36,40:76:99:0|1:1516109_T_C:1568,0,2296
chr1	1517171	rs1619925	G	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.398;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.14;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1619925;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|3/16|c.287G>A|p.Arg96Gln|413/2646|287/1905|96/634||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|2/15|c.283-140G>A||||||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|2/15|c.46-140G>A||||||;p3_1000G_AA=N|||;p3_1000G_AC=891;p3_1000G_AF=0.177915;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=15085;p3_1000G_EAS_AF=0.3323;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1452551;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:1517171_G_A:150,0,287
chr1	1517186	rs1619896	G	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.309;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1619896;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|3/16|c.302G>A|p.Ser101Asn|428/2646|302/1905|101/634||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|2/15|c.283-125G>A||||||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|2/15|c.46-125G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=865;p3_1000G_AF=0.172724;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=14364;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1452566;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,4:10:99:0|1:1517171_G_A:150,0,287
chr1	1518786	rs373408190	C	T	1361.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.664;ClippingRankSum=0;DP=128;ExcessHet=3.0103;FS=6.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.07;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373408190;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|4/15|c.589-135C>T||||||,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|4/15|c.445-135C>T||||||,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|4/15|c.208-135C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=27;p3_1000G_AF=0.00539137;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=9956;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1454166;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:64,59:123:99:1390,0,1760
chr1	1518892	rs10159059	T	A	1543.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.056;ClippingRankSum=0;DP=182;ExcessHet=3.0103;FS=5.457;MLEAC=1;MLEAF=0.5;MQ=57.92;MQRankSum=-1.068;QD=8.48;ReadPosRankSum=-1.749;SOR=1.009;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10159059;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|4/15|c.589-29T>A||||||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|4/15|c.445-29T>A||||||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|4/15|c.208-29T>A||||||;p3_1000G_AA=N|||;p3_1000G_AC=1053;p3_1000G_AF=0.210264;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=12836;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1454272;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1112,3294;ESP6500_AA_AGE=395.6+/-329.7;ESP6500_AA_GTC=128,856,1219;ESP6500_CDS_SIZES=NM_018188.3:1905,NM_001170536.1:1524,NM_001170535.1:1761;ESP6500_CG=0.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=100;ESP6500_EA_AC=30,8570;ESP6500_EA_AGE=19.8+/-62.0;ESP6500_EA_GTC=0,30,4270;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018188.3:intron,NM_001170536.1:intron,NM_001170535.1:intron;ESP6500_GL=ATAD3A;ESP6500_GRCh38_POSITION=1:1518892;ESP6500_GTC=128,886,5489;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_018188.3:c.589-29T>A,NM_001170536.1:c.208-29T>A,NM_001170535.1:c.445-29T>A;ESP6500_MAF=0.3488,25.2383,8.7806;ESP6500_TAC=1142,11864	GT:AD:DP:GQ:PL	0/1:116,66:182:99:1572,0,2977
chr1	1519125	rs1149269	C	T	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.97;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.74;MQRankSum=-3.979;QD=4.99;ReadPosRankSum=-0.948;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs377104947;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|5/15|c.658+135C>T||||||,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|5/15|c.514+135C>T||||||,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|5/15|c.277+135C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,5:22:99:0|1:1519125_C_T:138,0,1119
chr1	1519139	rs370448805	G	C	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.52;MQRankSum=-3.298;QD=2.76;ReadPosRankSum=1.2;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370448805;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|5/15|c.658+149G>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|5/15|c.514+149G>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|5/15|c.277+149G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=161;p3_1000G_AF=0.0321486;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=14997;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0.0169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1454519;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,3:18:78:0|1:1519125_C_T:78,0,1101
chr1	1522875	rs28675990	T	G	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.73;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=5.147;MLEAC=1;MLEAF=0.5;MQ=57.99;MQRankSum=-3.268;QD=7.9;ReadPosRankSum=-0.837;SOR=1.835;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28675990;dbSNPBuildID=125;ANN=G|synonymous_variant|LOW|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|8/16|c.1026T>G|p.Leu342Leu|1152/2646|1026/1905|342/634||,G|synonymous_variant|LOW|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|8/16|c.882T>G|p.Leu294Leu|1008/2502|882/1761|294/586||,G|synonymous_variant|LOW|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|8/16|c.645T>G|p.Leu215Leu|838/2332|645/1524|215/507||;p3_1000G_AA=N|||;p3_1000G_AC=1195;p3_1000G_AF=0.238618;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=13224;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1458255;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,14:42:99:360,0,729
chr1	1522905	rs6675874	A	G	209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=8.161;MLEAC=1;MLEAF=0.5;MQ=57.72;MQRankSum=-3.928;QD=5.67;ReadPosRankSum=-2.272;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6675874;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|8/15|c.1050+6A>G||||||,G|splice_region_variant&intron_variant|LOW|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|8/15|c.906+6A>G||||||,G|splice_region_variant&intron_variant|LOW|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|8/15|c.669+6A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=1675;p3_1000G_AF=0.334465;p3_1000G_AFR_AF=0.6543;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=12924;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1458285;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,10:37:99:238,0,672
chr1	1523022	rs3813215	A	G	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.952;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.55;MQRankSum=-3.268;QD=11.98;ReadPosRankSum=2.17;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813215;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|8/15|c.1050+123A>G||||||,G|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|8/15|c.906+123A>G||||||,G|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|8/15|c.669+123A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1664;p3_1000G_AF=0.332268;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=15042;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1458402;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:172,0,157
chr1	1523574	rs3737714	C	T	820.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.336;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0.87;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=-1.027;QD=10.52;ReadPosRankSum=-0.344;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737714;dbSNPBuildID=107;ANN=T|splice_region_variant&intron_variant|LOW|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|9/15|c.1107+7C>T||||||,T|splice_region_variant&intron_variant|LOW|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|9/15|c.963+7C>T||||||,T|splice_region_variant&intron_variant|LOW|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|9/15|c.726+7C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=13213;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1458954;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1219,3187;ESP6500_AA_AGE=413.5+/-336.5;ESP6500_AA_GTC=178,863,1162;ESP6500_CDS_SIZES=NM_018188.3:1905,NM_001170536.1:1524,NM_001170535.1:1761;ESP6500_CG=-1.1;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=53;ESP6500_EA_AC=29,8571;ESP6500_EA_AGE=19.2+/-60.6;ESP6500_EA_GTC=0,29,4271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018188.3:intron,NM_001170536.1:intron,NM_001170535.1:intron;ESP6500_GL=ATAD3A;ESP6500_GRCh38_POSITION=1:1523574;ESP6500_GTC=178,892,5433;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018188.3:c.1107+7C>T,NM_001170536.1:c.726+7C>T,NM_001170535.1:c.963+7C>T;ESP6500_MAF=0.3372,27.6668,9.5956;ESP6500_TAC=1248,11758	GT:AD:DP:GQ:PL	0/1:41,37:78:99:849,0,1003
chr1	1524202	rs7522558	G	A	1059.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=1.896;MLEAC=1;MLEAF=0.5;MQ=52.19;MQRankSum=0.948;QD=11.78;ReadPosRankSum=3.13;SOR=0.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74508282;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|10/15|c.1234-71G>A||||||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|10/15|c.1090-71G>A||||||,A|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|10/15|c.853-71G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1734;p3_1000G_AF=0.346246;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs74508282;p3_1000G_DP=18733;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1459582;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1088,0,1191
chr1	1527386	rs9439462	C	T	61.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.03;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=-1.255;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9439462;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|13/15|c.1482-309C>T||||||,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|13/15|c.1338-309C>T||||||,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|13/15|c.1101-309C>T||||||;p3_1000G_AA=N|||;p3_1000G_AC=1763;p3_1000G_AF=0.352037;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=17559;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1462766;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:90:90,0,146
chr1	1533841	rs6698376	T	C	87.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.58;MQRankSum=-1.15;QD=21.95;ReadPosRankSum=-0.319;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6698376;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding||c.*1518A>G|||||937|,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|15/15|c.1759-85T>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|15/15|c.1615-85T>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|15/15|c.1378-85T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2319;p3_1000G_AF=0.463059;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=12677;p3_1000G_EAS_AF=0.5397;p3_1000G_EUR_AF=0.161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1469221;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:25:116,0,25
chr1	1533883	rs6681228	G	T	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=41.18;MQRankSum=-1.501;QD=13.48;ReadPosRankSum=-0.405;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6681228;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding||c.*1476C>A|||||895|,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|15/15|c.1759-43G>T||||||,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|15/15|c.1615-43G>T||||||,T|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|15/15|c.1378-43G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1598;p3_1000G_AF=0.319089;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=11898;p3_1000G_EAS_AF=0.4187;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1469263;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1533,2693;ESP6500_AA_GTC=278,977,858;ESP6500_CDS_SIZES=NM_018188.3:1905,NM_001170536.1:1524,NM_001170535.1:1761;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=382,8128;ESP6500_EA_GTC=19,344,3892;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018188.3:intron,NM_001170536.1:intron,NM_001170535.1:intron;ESP6500_GL=ATAD3A;ESP6500_GRCh38_POSITION=1:1533883;ESP6500_GTC=297,1321,4750;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018188.3:c.1759-43G>T,NM_001170536.1:c.1378-43G>T,NM_001170535.1:c.1615-43G>T;ESP6500_MAF=4.4888,36.2754,15.0361;ESP6500_TAC=1915,10821	GT:AD:DP:GQ:PL	0/1:4,6:10:99:163,0,128
chr1	1533909	rs28370384	G	C	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.74;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.05;MQRankSum=0.899;QD=23.99;ReadPosRankSum=0.233;SOR=1.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28370384;dbSNPBuildID=125;ANN=C|downstream_gene_variant|MODIFIER|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding||c.*1450C>G|||||869|,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|15/15|c.1759-17G>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|15/15|c.1615-17G>C||||||,C|intron_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|15/15|c.1378-17G>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2473;p3_1000G_AF=0.49381;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=11384;p3_1000G_EAS_AF=0.5327;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1469289;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3691;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,14:18:99:460,0,108
chr1	1534166	rs3128344	G	A	581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.441;MLEAC=2;MLEAF=1;MQ=56.37;MQRankSum=-0.361;QD=27.7;ReadPosRankSum=-0.591;SOR=1.996;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128344;dbSNPBuildID=103;ANN=A|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|16/16|c.*94G>A|||||94|,A|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|16/16|c.*94G>A|||||94|,A|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|16/16|c.*94G>A|||||94|,A|downstream_gene_variant|MODIFIER|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding||c.*1193C>T|||||612|;p3_1000G_AA=G|||;p3_1000G_AC=4199;p3_1000G_AF=0.838458;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=12651;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.7336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1469546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,20:21:52:610,52,0
chr1	1534218	rs9439464	C	G	368.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.35;QD=30.54;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9439464;dbSNPBuildID=119;ANN=G|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|16/16|c.*146C>G|||||146|,G|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|16/16|c.*146C>G|||||146|,G|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|16/16|c.*146C>G|||||146|,G|downstream_gene_variant|MODIFIER|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding||c.*1141G>C|||||560|;p3_1000G_AA=G|||;p3_1000G_AC=3609;p3_1000G_AF=0.720647;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=10208;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.4314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1469598;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:1534218_C_G:397,27,0
chr1	1534219	rs3128343	G	C	368.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.35;QD=21.53;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128343;dbSNPBuildID=103;ANN=C|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|16/16|c.*147G>C|||||147|,C|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|16/16|c.*147G>C|||||147|,C|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|16/16|c.*147G>C|||||147|,C|downstream_gene_variant|MODIFIER|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding||c.*1140C>G|||||559|;p3_1000G_AA=G|||;p3_1000G_AC=3616;p3_1000G_AF=0.722045;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=10611;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.4314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1469599;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:1534218_C_G:397,27,0
chr1	1534226	rs35611435	C	T	286.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.19;QD=34.87;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35611435;dbSNPBuildID=126;ANN=T|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding|16/16|c.*154C>T|||||154|,T|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding|16/16|c.*154C>T|||||154|,T|3_prime_UTR_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding|16/16|c.*154C>T|||||154|,T|downstream_gene_variant|MODIFIER|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding||c.*1133G>A|||||552|;p3_1000G_AA=C|||;p3_1000G_AC=2919;p3_1000G_AF=0.582867;p3_1000G_AFR_AF=0.6271;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=11157;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.2674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1469606;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:1534218_C_G:315,21,0
chr1	1535512	rs1106226	G	A	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.827;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.028;SOR=0.558;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1106226;dbSNPBuildID=86;ANN=A|splice_region_variant&intron_variant|LOW|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding|3/3|c.374-5C>T||||||,A|downstream_gene_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_018188.3|protein_coding||c.*1440G>A|||||825|,A|downstream_gene_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170535.1|protein_coding||c.*1440G>A|||||825|,A|downstream_gene_variant|MODIFIER|ATAD3A|ATAD3A|transcript|NM_001170536.1|protein_coding||c.*1440G>A|||||825|;p3_1000G_AA=G|||;p3_1000G_AC=744;p3_1000G_AF=0.148562;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=8587;p3_1000G_EAS_AF=0.2391;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1470892;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,19:42:99:519,0,602
chr1	1543953	rs7533	A	G	1082.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7533;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|SSU72|SSU72|transcript|NM_014188.2|protein_coding|4/5|c.399T>C|p.Pro133Pro|724/1303|399/585|133/194||,G|sequence_feature|LOW|SSU72|SSU72|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_014188.2|protein_coding|4/5|c.399T>C||||||,G|upstream_gene_variant|MODIFIER|TMEM240|TMEM240|transcript|NM_001114748.1|protein_coding||c.-3607T>C|||||3593|;p3_1000G_AA=a|||;p3_1000G_AC=3474;p3_1000G_AF=0.69369;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=18035;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.3062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1479333;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3599,807;ESP6500_AA_AGE=320.2+/-296.5;ESP6500_AA_GTC=1474,651,78;ESP6500_CDS_SIZES=NM_014188.2:585;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=103;ESP6500_EA_AC=2537,6063;ESP6500_EA_AGE=692.7+/-404.6;ESP6500_EA_GTC=364,1809,2127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014188.2:coding-synonymous;ESP6500_GL=SSU72;ESP6500_GRCh38_POSITION=1:1543953;ESP6500_GTC=1838,2460,2205;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014188.2:c.399T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014188.2:p.(P133);ESP6500_MAF=29.5,18.3159,47.1782;ESP6500_TAC=6136,6870	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1111,108,0
chr1	1574445	rs6666293	A	G	838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6666293;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SSU72|SSU72|transcript|NM_014188.2|protein_coding|1/4|c.80+33T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3512;p3_1000G_AF=0.701278;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=10312;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1509825;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3636,744;ESP6500_AA_GTC=1510,616,64;ESP6500_CDS_SIZES=NM_014188.2:585;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=2600,5984;ESP6500_EA_GTC=406,1788,2098;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014188.2:intron;ESP6500_GL=SSU72;ESP6500_GRCh38_POSITION=1:1574445;ESP6500_GTC=1916,2404,2162;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014188.2:c.80+33T>C;ESP6500_MAF=30.2889,16.9863,48.1024;ESP6500_TAC=6236,6728	GT:AD:DP:GQ:PL	1/1:0,28:28:84:867,84,0
chr1	1574655	rs150737039;rs70949599	GGC	G	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=4.804;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs150737039,rs70949599;dbSNPBuildID=134,130;ANN=G|5_prime_UTR_variant|MODIFIER|SSU72|SSU72|transcript|NM_014188.2|protein_coding|1/5|c.-100_-99delGC|||||99|;p3_1000G_AC=3350;p3_1000G_AF=0.66893;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=8173;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1510035;p3_1000G_GRCH37_REF=GGC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7035;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:450,30,0
chr1	1616547	rs7418389	T	C	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.108;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.91;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7418389;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_080875.2|protein_coding|2/20|c.214T>C|p.Phe72Leu|259/3338|214/3213|72/1070||,C|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_001170686.1|protein_coding|2/20|c.214T>C|p.Phe72Leu|259/3326|214/3201|72/1066||,C|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_001170687.1|protein_coding|2/20|c.214T>C|p.Phe72Leu|259/3296|214/3171|72/1056||,C|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_001170688.1|protein_coding|2/19|c.214T>C|p.Phe72Leu|259/3143|214/3018|72/1005||,C|5_prime_UTR_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding|2/18|c.-90T>C|||||6906|,C|non_coding_transcript_exon_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene|2/20|n.259T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2389;p3_1000G_AF=0.477037;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=12794;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.7058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1551927;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2126,1670;ESP6500_AA_GTC=610,906,382;ESP6500_CDS_SIZES=NM_080875.2:3213,NM_001170689.1:2262,NM_001170688.1:3018,NM_001170687.1:3171,NM_001170686.1:3201;ESP6500_CG=0.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=24;ESP6500_EA_AC=5960,2296;ESP6500_EA_GTC=2173,1614,341;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080875.2:missense,NM_001170689.1:utr-5,NM_001170688.1:missense,NM_001170687.1:missense,NM_001170686.1:missense;ESP6500_GL=MIB2;ESP6500_GRCh38_POSITION=1:1616547;ESP6500_GS=22,.,22,22,22;ESP6500_GTC=2783,2520,723;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_080875.2:c.214T>C,NM_001170689.1:c.-6906T>C,NM_001170688.1:c.214T>C,NM_001170687.1:c.214T>C,NM_001170686.1:c.214T>C;ESP6500_HGVS_PROTEIN_VAR=NM_080875.2:p.(F72L),.,NM_001170688.1:p.(F72L),NM_001170687.1:p.(F72L),NM_001170686.1:p.(F72L);ESP6500_MAF=27.8101,43.9937,32.9074;ESP6500_PH=benign:0.0,.,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=8086,3966	GT:AD:DP:GQ:PL	0/1:7,11:18:99:272,0,161
chr1	1616654	rs149275584	G	C	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149275584;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_080875.2|protein_coding|2/19|c.281+40G>C||||||,C|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170686.1|protein_coding|2/19|c.281+40G>C||||||,C|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170687.1|protein_coding|2/19|c.281+40G>C||||||,C|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170688.1|protein_coding|2/18|c.281+40G>C||||||,C|intron_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene|2/19|n.326+40G>C||||||,C|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding|2/17|c.-23+40G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=102;p3_1000G_AF=0.0203674;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=15398;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1552034;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP;ESP6500_AA_AC=65,3871;ESP6500_AA_GTC=0,65,1903;ESP6500_CDS_SIZES=NM_080875.2:3213,NM_001170689.1:2262,NM_001170688.1:3018,NM_001170687.1:3171,NM_001170686.1:3201;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=9;ESP6500_EA_AC=2,8214;ESP6500_EA_GTC=0,2,4106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080875.2:intron,NM_001170689.1:intron,NM_001170688.1:intron,NM_001170687.1:intron,NM_001170686.1:intron;ESP6500_GL=MIB2;ESP6500_GRCh38_POSITION=1:1616654;ESP6500_GTC=0,67,6009;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_080875.2:c.281+40G>C,NM_001170689.1:c.-6799G>C,NM_001170688.1:c.281+40G>C,NM_001170687.1:c.281+40G>C,NM_001170686.1:c.281+40G>C;ESP6500_MAF=0.0243,1.6514,0.5513;ESP6500_TAC=67,12085	GT:AD:DP:GQ:PL	0/1:4,4:8:99:99,0,107
chr1	1616717	rs28502067	G	A	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=-1.645;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28502067;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_080875.2|protein_coding|2/19|c.281+103G>A||||||,A|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170686.1|protein_coding|2/19|c.281+103G>A||||||,A|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170687.1|protein_coding|2/19|c.281+103G>A||||||,A|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170688.1|protein_coding|2/18|c.281+103G>A||||||,A|intron_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene|2/19|n.326+103G>A||||||,A|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding|2/17|c.-23+103G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=263;p3_1000G_AF=0.052516;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=15540;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1552097;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:57:57,0,113
chr1	1623412	rs12755088	T	C	487.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=0.07;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12755088;dbSNPBuildID=121;ANN=C|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_080875.2|protein_coding|3/20|c.305T>C|p.Met102Thr|350/3338|305/3213|102/1070||,C|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_001170686.1|protein_coding|3/20|c.305T>C|p.Met102Thr|350/3326|305/3201|102/1066||,C|missense_variant|MODERATE|MIB2|MIB2|transcript|NM_001170688.1|protein_coding|3/19|c.305T>C|p.Met102Thr|350/3143|305/3018|102/1005||,C|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170687.1|protein_coding|2/19|c.282-19T>C||||||,C|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding|2/17|c.-22-19T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene|3/20|n.350T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3874;p3_1000G_AF=0.773562;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=11437;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.9364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1558792;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8599;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2880,876;ESP6500_AA_GTC=1128,624,126;ESP6500_CDS_SIZES=NM_080875.2:3213,NM_001170689.1:2262,NM_001170688.1:3018,NM_001170687.1:3171,NM_001170686.1:3201;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=13;ESP6500_EA_AC=7701,491;ESP6500_EA_GTC=3625,451,20;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080875.2:missense,NM_001170689.1:intron,NM_001170688.1:missense,NM_001170687.1:intron,NM_001170686.1:missense;ESP6500_GL=MIB2;ESP6500_GRCh38_POSITION=1:1623412;ESP6500_GS=81,.,81,.,81;ESP6500_GTC=4753,1075,146;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_080875.2:c.305T>C,NM_001170689.1:c.-41T>C,NM_001170688.1:c.305T>C,NM_001170687.1:c.282-19T>C,NM_001170686.1:c.305T>C;ESP6500_HGVS_PROTEIN_VAR=NM_080875.2:p.(M102T),.,NM_001170688.1:p.(M102T),.,NM_001170686.1:p.(M102T);ESP6500_MAF=5.9937,23.3227,11.4412;ESP6500_PH=benign:0.013,.,benign:0.013,.,benign:0.013;ESP6500_TAC=10581,1367	GT:AD:DP:GQ:PL	0/1:11,17:28:99:516,0,264
chr1	1625671	rs117489126	C	T	523.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.232;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.079;SOR=0.997;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117489126;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_080875.2|protein_coding|8/19|c.1317+18C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170686.1|protein_coding|8/19|c.1305+18C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170687.1|protein_coding|8/19|c.1275+18C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170688.1|protein_coding|7/18|c.1122+18C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene|8/19|n.1145+18C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding|7/17|c.777+18C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=43;p3_1000G_AF=0.00858626;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12258;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1561051;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,3777;ESP6500_AA_GTC=0,3,1887;ESP6500_CDS_SIZES=NM_080875.2:3213,NM_001170689.1:2262,NM_001170688.1:3018,NM_001170687.1:3171,NM_001170686.1:3201;ESP6500_CG=2.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=10;ESP6500_EA_AC=0,7988;ESP6500_EA_GTC=0,0,3994;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080875.2:intron,NM_001170689.1:intron,NM_001170688.1:intron,NM_001170687.1:intron,NM_001170686.1:intron;ESP6500_GL=MIB2;ESP6500_GRCh38_POSITION=1:1625671;ESP6500_GTC=0,3,5881;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080875.2:c.1317+18C>T,NM_001170689.1:c.777+18C>T,NM_001170688.1:c.1122+18C>T,NM_001170687.1:c.1275+18C>T,NM_001170686.1:c.1305+18C>T;ESP6500_MAF=0.0,0.0794,0.0255;ESP6500_TAC=3,11765	GT:AD:DP:GQ:PL	0/1:15,19:34:99:552,0,424
chr1	1627057	rs28510084	C	G	717.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.065;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.289;SOR=0.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28510084;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_080875.2|protein_coding|10/19|c.1586-17C>G||||||,G|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170686.1|protein_coding|10/19|c.1574-17C>G||||||,G|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170687.1|protein_coding|10/19|c.1544-17C>G||||||,G|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170688.1|protein_coding|9/18|c.1391-17C>G||||||,G|intron_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene|10/19|n.1414-17C>G||||||,G|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding|9/17|c.1046-17C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2206;p3_1000G_AF=0.440495;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=13402;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.2336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1562437;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2339,1597;ESP6500_AA_GTC=708,923,337;ESP6500_CDS_SIZES=NM_080875.2:3213,NM_001170689.1:2262,NM_001170688.1:3018,NM_001170687.1:3171,NM_001170686.1:3201;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=14;ESP6500_EA_AC=1772,6528;ESP6500_EA_GTC=190,1392,2568;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080875.2:intron,NM_001170689.1:intron,NM_001170688.1:intron,NM_001170687.1:intron,NM_001170686.1:intron;ESP6500_GL=MIB2;ESP6500_GRCh38_POSITION=1:1627057;ESP6500_GTC=898,2315,2905;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_080875.2:c.1586-17C>G,NM_001170689.1:c.1046-17C>G,NM_001170688.1:c.1391-17C>G,NM_001170687.1:c.1544-17C>G,NM_001170686.1:c.1574-17C>G;ESP6500_MAF=21.3494,40.5742,33.5976;ESP6500_TAC=4111,8125	GT:AD:DP:GQ:PL	0/1:25,27:52:99:746,0,819
chr1	1627880	rs148507537	C	T	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.667;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.736;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148507537;dbSNPBuildID=134;ANN=T|upstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.-4339C>T|||||4301|,T|upstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.-4900C>T|||||4900|,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_080875.2|protein_coding|13/19|c.2025+51C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170686.1|protein_coding|13/19|c.2013+51C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170687.1|protein_coding|13/19|c.1983+51C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170688.1|protein_coding|12/18|c.1830+51C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene|13/19|n.1853+51C>T||||||,T|intron_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding|12/17|c.1485+51C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=105;p3_1000G_AF=0.0209665;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=14121;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1563260;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=71,4265;ESP6500_AA_GTC=1,69,2098;ESP6500_CDS_SIZES=NM_080875.2:3213,NM_001170689.1:2262,NM_001170688.1:3018,NM_001170687.1:3171,NM_001170686.1:3201;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=18;ESP6500_EA_AC=3,8517;ESP6500_EA_GTC=0,3,4257;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080875.2:intron,NM_001170689.1:intron,NM_001170688.1:intron,NM_001170687.1:intron,NM_001170686.1:intron;ESP6500_GL=MIB2;ESP6500_GRCh38_POSITION=1:1627880;ESP6500_GTC=1,72,6355;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080875.2:c.2025+51C>T,NM_001170689.1:c.1485+51C>T,NM_001170688.1:c.1830+51C>T,NM_001170687.1:c.1983+51C>T,NM_001170686.1:c.2013+51C>T;ESP6500_MAF=0.0352,1.6375,0.5756;ESP6500_TAC=74,12782	GT:AD:DP:GQ:PL	0/1:8,9:17:99:278,0,238
chr1	1630685	rs1297360039	AG	A	127.5	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=21.25;ReadPosRankSum=1.38;SOR=0.941;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|upstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.-1533delG|||||1495|,A|upstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.-2094delG|||||2094|,A|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_080875.2|protein_coding||c.*156delG|||||76|,A|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding||c.*5078delC|||||4540|,A|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170686.1|protein_coding||c.*156delG|||||76|,A|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170687.1|protein_coding||c.*156delG|||||76|,A|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170688.1|protein_coding||c.*156delG|||||76|,A|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene||n.*76delG|||||76|,A|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding||c.*385delG|||||76|,A|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding||c.*5078delC|||||4540|,A|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding||c.*5078delC|||||4540|,A|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding||c.*5078delC|||||4540|,A|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding||c.*5078delC|||||4540|,A|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding||c.*5078delC|||||4540|,A|intergenic_region|MODIFIER|MIB2-MMP23B|MIB2-MMP23B|intergenic_region|MIB2-MMP23B|||n.1630686delG||||||	GT:AD:DP:GQ:PL	1/1:1,5:6:3:163,3,0
chr1	1634406	rs1323921969	C	CG	47.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=21;QD=15.75;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=CG|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_080875.2|protein_coding||c.*3876_*3877insG|||||3797|,CG|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding||c.*1357dupC|||||819|,CG|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170686.1|protein_coding||c.*3876_*3877insG|||||3797|,CG|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170687.1|protein_coding||c.*3876_*3877insG|||||3797|,CG|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170688.1|protein_coding||c.*3876_*3877insG|||||3797|,CG|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NR_033183.1|pseudogene||n.*3796_*3797insG|||||3797|,CG|downstream_gene_variant|MODIFIER|MIB2|MIB2|transcript|NM_001170689.1|protein_coding||c.*4105_*4106insG|||||3797|,CG|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding||c.*1357dupC|||||819|,CG|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding||c.*1357dupC|||||819|,CG|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding||c.*1357dupC|||||819|,CG|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding||c.*1357dupC|||||819|,CG|downstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding||c.*1357dupC|||||819|,CG|intron_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding|7/7|c.999-35dupG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene|5/5|n.706-35dupG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:84,9,0
chr1	1636467	rs147836863	A	G	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=4.731;MLEAC=1;MLEAF=0.5;MQ=57.3;MQRankSum=-4.911;QD=3.05;ReadPosRankSum=-1.683;SOR=1.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147836863;dbSNPBuildID=134;ANN=G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|18/20|c.1971T>C|p.Pro657Pro|2168/3123|1971/2388|657/795||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|18/20|c.1902T>C|p.Pro634Pro|2099/3054|1902/2319|634/772||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|18/20|c.1932T>C|p.Pro644Pro|2129/3084|1932/2349|644/782||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|16/18|c.1164T>C|p.Pro388Pro|1869/2824|1164/1581|388/526||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|19/21|c.1830T>C|p.Pro610Pro|2176/3131|1830/2247|610/748||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|17/19|c.1281T>C|p.Pro427Pro|1992/2947|1281/1698|427/565||,G|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*1842A>G|||||1813|,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*1816A>G|||||1816|	GT:AD:DP:GQ:PL	0/1:43,12:55:99:196,0,1176
chr1	1636479	rs150949339	A	C	43.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.65;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=6.521;MLEAC=1;MLEAF=0.5;MQ=56.16;MQRankSum=-5.169;QD=0.83;ReadPosRankSum=0.661;SOR=2.129;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150949339;dbSNPBuildID=134;ANN=C|missense_variant&splice_region_variant|MODERATE|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|18/20|c.1959T>G|p.Asp653Glu|2156/3123|1959/2388|653/795||,C|missense_variant&splice_region_variant|MODERATE|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|18/20|c.1890T>G|p.Asp630Glu|2087/3054|1890/2319|630/772||,C|missense_variant&splice_region_variant|MODERATE|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|18/20|c.1920T>G|p.Asp640Glu|2117/3084|1920/2349|640/782||,C|missense_variant&splice_region_variant|MODERATE|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|16/18|c.1152T>G|p.Asp384Glu|1857/2824|1152/1581|384/526||,C|missense_variant&splice_region_variant|MODERATE|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|19/21|c.1818T>G|p.Asp606Glu|2164/3131|1818/2247|606/748||,C|missense_variant&splice_region_variant|MODERATE|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|17/19|c.1269T>G|p.Asp423Glu|1980/2947|1269/1698|423/565||,C|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*1854A>C|||||1825|,C|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*1828A>C|||||1828|;ESP6500_AA=A;ESP6500_AA_AC=663,3183;ESP6500_AA_GTC=0,663,1260;ESP6500_CDS_SIZES=NM_033493.1:2085,NM_033492.1:2112,NM_033489.1:1992,NM_033488.1:1983,NM_033487.1:1581,NM_033486.1:2094;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=40;ESP6500_EA_AC=156,8096;ESP6500_EA_GTC=0,156,3970;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033493.1:missense,NM_033492.1:missense,NM_033489.1:missense,NM_033488.1:missense,NM_033487.1:missense,NM_033486.1:missense;ESP6500_GL=CDK11B;ESP6500_GRCh38_POSITION=1:1636479;ESP6500_GS=45,45,45,45,45,45;ESP6500_GTC=0,819,5230;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_033493.1:c.1656T>G,NM_033492.1:c.1683T>G,NM_033489.1:c.1563T>G,NM_033488.1:c.1554T>G,NM_033487.1:c.1152T>G,NM_033486.1:c.1665T>G;ESP6500_HGVS_PROTEIN_VAR=NM_033493.1:p.(D552E),NM_033492.1:p.(D561E),NM_033489.1:p.(D521E),NM_033488.1:p.(D518E),NM_033487.1:p.(D384E),NM_033486.1:p.(D555E);ESP6500_MAF=1.8905,17.2387,6.7697;ESP6500_PH=probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997;ESP6500_TAC=819,11279	GT:AD:DP:GQ:PL	0/1:46,7:53:72:72,0,1260
chr1	1636616	rs192957649	C	G	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.958;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.393;MLEAC=1;MLEAF=0.5;MQ=57.47;MQRankSum=-0.201;QD=12.7;ReadPosRankSum=-1.93;SOR=0.264;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs192957649;dbSNPBuildID=135;ANN=G|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*1991C>G|||||1962|,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*1965C>G|||||1965|,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|17/19|c.1956+66G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|17/19|c.1887+66G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|17/19|c.1917+66G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|15/17|c.1149+66G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|18/20|c.1815+66G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|16/18|c.1266+66G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=48;p3_1000G_AF=0.00958466;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16332;p3_1000G_EAS_AF=0.0476;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1571978;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,15:31:99:422,0,498
chr1	1637022	rs146043578	C	T	817.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.432;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=5.698;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.513;SOR=1.395;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146043578;dbSNPBuildID=134;ANN=T|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*2397C>T|||||2368|,T|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*2371C>T|||||2371|,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|15/19|c.1732-18G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|15/19|c.1663-18G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|15/19|c.1693-18G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|13/17|c.925-18G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|16/20|c.1591-18G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|14/18|c.1042-18G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16874;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1572384;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4,4000;ESP6500_AA_GTC=0,4,1998;ESP6500_CDS_SIZES=NM_033493.1:2085,NM_033492.1:2112,NM_033489.1:1992,NM_033488.1:1983,NM_033487.1:1581,NM_033486.1:2094;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=53;ESP6500_EA_AC=2,8356;ESP6500_EA_GTC=0,2,4177;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033493.1:intron,NM_033492.1:intron,NM_033489.1:intron,NM_033488.1:intron,NM_033487.1:intron,NM_033486.1:intron;ESP6500_GL=CDK11B;ESP6500_GRCh38_POSITION=1:1637022;ESP6500_GTC=0,6,6175;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033493.1:c.1429-18G>A,NM_033492.1:c.1456-18G>A,NM_033489.1:c.1336-18G>A,NM_033488.1:c.1327-18G>A,NM_033487.1:c.925-18G>A,NM_033486.1:c.1438-18G>A;ESP6500_MAF=0.0239,0.0999,0.0485;ESP6500_TAC=6,12356	GT:AD:DP:GQ:PL	0/1:56,34:90:99:846,0,1669
chr1	1637362	rs187245188	C	A	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.613;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.515;MLEAC=1;MLEAF=0.5;MQ=56;MQRankSum=-6.075;QD=4.92;ReadPosRankSum=1.26;SOR=1.524;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187245188;dbSNPBuildID=135;ANN=A|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*2737C>A|||||2708|,A|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*2711C>A|||||2711|,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|14/19|c.1609+46G>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|14/19|c.1540+46G>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|14/19|c.1570+46G>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|12/17|c.802+46G>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|15/20|c.1468+46G>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|13/18|c.919+46G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=51;p3_1000G_AF=0.0101837;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16585;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1572724;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,10:39:99:220,0,838
chr1	1637463	rs375978633	A	G	677.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.91;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=2.063;MLEAC=1;MLEAF=0.5;MQ=50.35;MQRankSum=-5.156;QD=9.97;ReadPosRankSum=-1.795;SOR=0.456;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375978633;dbSNPBuildID=138;ANN=G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|14/20|c.1554T>C|p.Tyr518Tyr|1751/3123|1554/2388|518/795||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|14/20|c.1485T>C|p.Tyr495Tyr|1682/3054|1485/2319|495/772||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|14/20|c.1515T>C|p.Tyr505Tyr|1712/3084|1515/2349|505/782||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|12/18|c.747T>C|p.Tyr249Tyr|1452/2824|747/1581|249/526||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|15/21|c.1413T>C|p.Tyr471Tyr|1759/3131|1413/2247|471/748||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|13/19|c.864T>C|p.Tyr288Tyr|1575/2947|864/1698|288/565||,G|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*2838A>G|||||2809|,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*2812A>G|||||2812|;p3_1000G_AA=.|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22598;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1572825;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=0,4256;ESP6500_AA_GTC=0,0,2128;ESP6500_CDS_SIZES=NM_033493.1:2085,NM_033492.1:2112,NM_033489.1:1992,NM_033488.1:1983,NM_033487.1:1581,NM_033486.1:2094;ESP6500_CG=-4.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=143;ESP6500_EA_AC=4,8458;ESP6500_EA_GTC=0,4,4227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033493.1:coding-synonymous,NM_033492.1:coding-synonymous,NM_033489.1:coding-synonymous,NM_033488.1:coding-synonymous,NM_033487.1:coding-synonymous,NM_033486.1:coding-synonymous;ESP6500_GL=CDK11B;ESP6500_GRCh38_POSITION=1:1637463;ESP6500_GTC=0,4,6355;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033493.1:c.1251T>C,NM_033492.1:c.1278T>C,NM_033489.1:c.1158T>C,NM_033488.1:c.1149T>C,NM_033487.1:c.747T>C,NM_033486.1:c.1260T>C;ESP6500_HGVS_PROTEIN_VAR=NM_033493.1:p.(Y417),NM_033492.1:p.(Y426),NM_033489.1:p.(Y386),NM_033488.1:p.(Y383),NM_033487.1:p.(Y249),NM_033486.1:p.(Y420);ESP6500_MAF=0.0473,0.0,0.0315;ESP6500_TAC=4,12714	GT:AD:DP:GQ:PL	0/1:42,26:68:99:706,0,1044
chr1	1637573	rs118121437	C	T	739.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.636;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.59;MQRankSum=4.64;QD=12.13;ReadPosRankSum=0.374;SOR=0.746;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs118121437;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*2948C>T|||||2919|,T|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*2922C>T|||||2922|,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|13/19|c.1504-60G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|13/19|c.1435-60G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|13/19|c.1465-60G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|11/17|c.697-60G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|14/20|c.1363-60G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|12/18|c.814-60G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12100;p3_1000G_EAS_AF=0.0446;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1572935;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,31:61:99:0|1:1637573_C_T:768,0,1200
chr1	1637577	rs28688376	T	C	766.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.78;MQRankSum=-4.419;QD=12.37;ReadPosRankSum=-0.235;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28688376;dbSNPBuildID=125;ANN=C|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*2952T>C|||||2923|,C|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*2926T>C|||||2926|,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|13/19|c.1504-64A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|13/19|c.1435-64A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|13/19|c.1465-64A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|11/17|c.697-64A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|14/20|c.1363-64A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|12/18|c.814-64A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1182;p3_1000G_AF=0.236022;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=12590;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1572939;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,31:62:99:1|0:1637573_C_T:795,0,1208
chr1	1637708	rs923840133	G	A	559.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.734;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.597;MLEAC=1;MLEAF=0.5;MQ=48.67;MQRankSum=-3.774;QD=12.44;ReadPosRankSum=-0.298;SOR=0.352;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=A|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*3083G>A|||||3054|,A|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*3057G>A|||||3057|,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|13/19|c.1503+54C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|13/19|c.1434+54C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|13/19|c.1464+54C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|11/17|c.696+54C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|14/20|c.1362+54C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|12/18|c.813+54C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,23:45:99:0|1:1637708_G_A:588,0,1150
chr1	1637716	rs201088964	A	G	1029.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.183;MLEAC=1;MLEAF=0.5;MQ=48.62;MQRankSum=-6.003;QD=21.45;ReadPosRankSum=0.256;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201088964;dbSNPBuildID=137;ANN=G|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*3091A>G|||||3062|,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*3065A>G|||||3065|,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|13/19|c.1503+46T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|13/19|c.1434+46T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|13/19|c.1464+46T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|11/17|c.696+46T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|14/20|c.1362+46T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|12/18|c.813+46T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=140;p3_1000G_AF=0.0279553;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=17804;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1573078;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,29:48:99:0|1:1637708_G_A:1058,0,430
chr1	1637816	rs117061368	C	G	826.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.259;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0.872;MLEAC=1;MLEAF=0.5;MQ=48.37;MQRankSum=-0.973;QD=10.88;ReadPosRankSum=-1.088;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117061368;dbSNPBuildID=132;ANN=G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|13/20|c.1449G>C|p.Leu483Leu|1646/3123|1449/2388|483/795||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|13/20|c.1380G>C|p.Leu460Leu|1577/3054|1380/2319|460/772||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|13/20|c.1410G>C|p.Leu470Leu|1607/3084|1410/2349|470/782||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|11/18|c.642G>C|p.Leu214Leu|1347/2824|642/1581|214/526||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|14/21|c.1308G>C|p.Leu436Leu|1654/3131|1308/2247|436/748||,G|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|12/19|c.759G>C|p.Leu253Leu|1470/2947|759/1698|253/565||,G|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*3191C>G|||||3162|,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*3165C>G|||||3165|;p3_1000G_AA=.|||;p3_1000G_AC=43;p3_1000G_AF=0.00858626;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21969;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1573178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,4219;ESP6500_AA_GTC=0,3,2108;ESP6500_CDS_SIZES=NM_033493.1:2085,NM_033492.1:2112,NM_033489.1:1992,NM_033488.1:1983,NM_033487.1:1581,NM_033486.1:2094;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=297;ESP6500_EA_AC=0,8448;ESP6500_EA_GTC=0,0,4224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033493.1:coding-synonymous,NM_033492.1:coding-synonymous,NM_033489.1:coding-synonymous,NM_033488.1:coding-synonymous,NM_033487.1:coding-synonymous,NM_033486.1:coding-synonymous;ESP6500_GL=CDK11B;ESP6500_GRCh38_POSITION=1:1637816;ESP6500_GTC=0,3,6332;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_033493.1:c.1146G>C,NM_033492.1:c.1173G>C,NM_033489.1:c.1053G>C,NM_033488.1:c.1044G>C,NM_033487.1:c.642G>C,NM_033486.1:c.1155G>C;ESP6500_HGVS_PROTEIN_VAR=NM_033493.1:p.(L382),NM_033492.1:p.(L391),NM_033489.1:p.(L351),NM_033488.1:p.(L348),NM_033487.1:p.(L214),NM_033486.1:p.(L385);ESP6500_MAF=0.0,0.0711,0.0237;ESP6500_TAC=3,12667	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,37:76:99:0|1:1637816_C_G:855,0,1206
chr1	1637819	rs138980727	C	A	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.032;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=4.04;MLEAC=1;MLEAF=0.5;MQ=48.88;MQRankSum=-5.641;QD=2.16;ReadPosRankSum=1.97;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138980727;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|13/20|c.1446G>T|p.Ser482Ser|1643/3123|1446/2388|482/795||,A|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|13/20|c.1377G>T|p.Ser459Ser|1574/3054|1377/2319|459/772||,A|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|13/20|c.1407G>T|p.Ser469Ser|1604/3084|1407/2349|469/782||,A|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|11/18|c.639G>T|p.Ser213Ser|1344/2824|639/1581|213/526||,A|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|14/21|c.1305G>T|p.Ser435Ser|1651/3131|1305/2247|435/748||,A|synonymous_variant|LOW|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|12/19|c.756G>T|p.Ser252Ser|1467/2947|756/1698|252/565||,A|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*3194C>A|||||3165|,A|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*3168C>A|||||3168|;ESP6500_AA=G;ESP6500_AA_AC=317,3887;ESP6500_AA_GTC=1,315,1786;ESP6500_CDS_SIZES=NM_033493.1:2085,NM_033492.1:2112,NM_033489.1:1992,NM_033488.1:1983,NM_033487.1:1581,NM_033486.1:2094;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=289;ESP6500_EA_AC=51,8395;ESP6500_EA_GTC=0,51,4172;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033493.1:coding-synonymous,NM_033492.1:coding-synonymous,NM_033489.1:coding-synonymous,NM_033488.1:coding-synonymous,NM_033487.1:coding-synonymous,NM_033486.1:coding-synonymous;ESP6500_GL=CDK11B;ESP6500_GRCh38_POSITION=1:1637819;ESP6500_GTC=1,366,5958;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_033493.1:c.1143G>T,NM_033492.1:c.1170G>T,NM_033489.1:c.1050G>T,NM_033488.1:c.1041G>T,NM_033487.1:c.639G>T,NM_033486.1:c.1152G>T;ESP6500_HGVS_PROTEIN_VAR=NM_033493.1:p.(S381),NM_033492.1:p.(S390),NM_033489.1:p.(S350),NM_033488.1:p.(S347),NM_033487.1:p.(S213),NM_033486.1:p.(S384);ESP6500_MAF=0.6038,7.5404,2.9091;ESP6500_TAC=368,12282	GT:AD:DP:GQ:PGT:PID:PL	0/1:57,15:72:99:1|0:1637816_C_G:184,0,2069
chr1	1638449	rs74463537	A	G	24.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.515;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.25;MQRankSum=2.04;QD=0.89;ReadPosRankSum=1.29;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144744578;dbSNPBuildID=131;ANN=G|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*3824A>G|||||3795|,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*3798A>G|||||3798|,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|12/19|c.1381+51T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|12/19|c.1312+51T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|12/19|c.1342+51T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|10/17|c.574+51T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|13/20|c.1240+51T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|11/18|c.691+51T>C||||||	GT:AD:DP:GQ:PL	0/1:23,5:28:53:53,0,553
chr1	1638701	rs11488588	T	C	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.29;MQRankSum=0.642;QD=12.07;ReadPosRankSum=-0.476;SOR=1.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115727373;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|MMP23B|MMP23B|transcript|NM_006983.1|protein_coding||c.*4076T>C|||||4047|,C|downstream_gene_variant|MODIFIER|MMP23A|MMP23A|transcript|NR_002946.1|pseudogene||n.*4050T>C|||||4050|,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|11/19|c.1291-111A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|11/19|c.1222-111A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|11/19|c.1252-111A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|9/17|c.484-111A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|12/20|c.1150-111A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|10/18|c.601-111A>G||||||	GT:AD:DP:GQ:PL	0/1:15,11:26:99:342,0,486
chr1	1640250	rs78361857	T	C	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.86;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.508;MLEAC=1;MLEAF=0.5;MQ=50.23;MQRankSum=-4.473;QD=3.28;ReadPosRankSum=-0.634;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78361857;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|11/19|c.1290+27A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|11/19|c.1221+27A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|11/19|c.1251+27A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|9/17|c.483+27A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|12/20|c.1149+27A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|10/18|c.600+27A>G||||||	GT:AD:DP:GQ:PL	0/1:33,9:42:99:166,0,1042
chr1	1640475	rs72468213	C	G	957.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=1.932;MLEAC=1;MLEAF=0.5;MQ=41.08;MQRankSum=-0.223;QD=11.54;ReadPosRankSum=1.28;SOR=0.483;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72468213;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|10/19|c.1115-23G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|10/19|c.1046-23G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|10/19|c.1076-23G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|8/17|c.308-23G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|11/20|c.974-23G>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|9/18|c.425-23G>C||||||	GT:AD:DP:GQ:PL	0/1:45,38:83:99:986,0,1088
chr1	1640502	rs6671852	A	T	633.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.374;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.92;MQRankSum=-1.84;QD=10.22;ReadPosRankSum=-0.811;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142965371;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|10/19|c.1115-50T>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|10/19|c.1046-50T>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|10/19|c.1076-50T>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|8/17|c.308-50T>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|11/20|c.974-50T>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|9/18|c.425-50T>A||||||	GT:AD:DP:GQ:PL	0/1:34,28:62:99:662,0,879
chr1	1641642	rs3819995	T	C	48.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.12;QD=24.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|9/19|c.1048+20A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|9/19|c.979+20A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|9/19|c.1009+20A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|7/17|c.241+20A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|10/20|c.907+20A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|8/18|c.358+20A>G||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:76,6,0
chr1	1642308	rs769139901	C	T	54.81	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=13.7;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|7/19|c.793+39G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|7/19|c.724+78G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|7/19|c.754+78G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|5/17|c.-14-307G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|8/20|c.652+78G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|6/18|c.103+78G>A||||||	GT:AD:DP:GQ:PL	0/1:1,3:4:20:83,0,20
chr1	1645377	rs4648767	T	A	41.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.363;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37.01;MQRankSum=0.391;QD=3.48;ReadPosRankSum=0.818;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149767621;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|5/19|c.495-115A>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|5/19|c.465-115A>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|5/19|c.495-115A>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|5/17|c.-14-3376A>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|6/20|c.393-115A>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|5/18|c.-20-2869A>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1834;p3_1000G_AF=0.366214;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs149767621;p3_1000G_DP=24241;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.4911;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1580738;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,3:12:70:70,0,244
chr1	1645704	rs77085542	G	C	1722.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.259;ClippingRankSum=0;DP=109;ExcessHet=3.0103;FS=0.775;MLEAC=1;MLEAF=0.5;MQ=39.81;MQRankSum=-3.505;QD=15.81;ReadPosRankSum=0.634;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201226565;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|5/19|c.495-442C>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|5/19|c.465-442C>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|5/19|c.495-442C>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|5/17|c.-14-3703C>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|6/20|c.393-442C>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|5/18|c.-20-3196C>G||||||	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1751,0,1249
chr1	1645735	rs67488456	C	T	1731.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.178;ClippingRankSum=0;DP=135;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.88;MQRankSum=-3.274;QD=12.83;ReadPosRankSum=1.65;SOR=0.674;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145723946;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|5/19|c.495-473G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|5/19|c.465-473G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|5/19|c.495-473G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|5/17|c.-14-3734G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|6/20|c.393-473G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|5/18|c.-20-3227G>A||||||	GT:AD:DP:GQ:PL	0/1:62,73:135:99:1760,0,1494
chr1	1645898	rs201293772	G	A	471.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.21;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.561;MLEAC=1;MLEAF=0.5;MQ=58.87;MQRankSum=0.348;QD=8.58;ReadPosRankSum=-0.541;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201293772;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|5/19|c.495-636C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|5/19|c.465-636C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|5/19|c.495-636C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|5/17|c.-15+3601C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|6/20|c.393-636C>T||||||,A|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|5/18|c.-20-3390C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=69;p3_1000G_AF=0.013778;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=26424;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1581259;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:35,20:55:99:500,0,1241
chr1	1646147	rs200574274	T	C	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.15;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.576;MLEAC=1;MLEAF=0.5;MQ=46.25;MQRankSum=-1.131;QD=12.07;ReadPosRankSum=1.92;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200574274;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|5/19|c.495-885A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|5/19|c.465-885A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|5/19|c.495-885A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|5/17|c.-15+3352A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|6/20|c.393-885A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|5/18|c.-21+3352A>G||||||;ESP6500_AA=T;ESP6500_AA_AC=3,3577;ESP6500_AA_GTC=0,3,1787;ESP6500_CDS_SIZES=NM_033493.1:2085,NM_033492.1:2112,NM_033489.1:1992,NM_033488.1:1983,NM_033487.1:1581,NM_033486.1:2094;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=53;ESP6500_EA_AC=0,8032;ESP6500_EA_GTC=0,0,4016;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033493.1:intron,NM_033492.1:intron,NM_033489.1:intron,NM_033488.1:intron,NM_033487.1:intron,NM_033486.1:intron;ESP6500_GL=CDK11B;ESP6500_GRCh38_POSITION=1:1646147;ESP6500_GTC=0,3,5803;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033493.1:c.232-886A>G,NM_033492.1:c.232-859A>G,NM_033489.1:c.139-886A>G,NM_033488.1:c.130-886A>G,NM_033487.1:c.-4160A>G,NM_033486.1:c.241-886A>G;ESP6500_MAF=0.0,0.0838,0.0258;ESP6500_TAC=3,11609	GT:AD:DP:GQ:PL	0/1:15,12:27:99:354,0,400
chr1	1646225	rs1184593233;rs61774914	C	T	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.96;MQRankSum=1.1;QD=4.34;ReadPosRankSum=-1.691;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151,129;ANN=T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|5/19|c.495-963G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|5/19|c.465-963G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|5/19|c.495-963G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|5/17|c.-15+3274G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|6/20|c.393-963G>A||||||,T|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|5/18|c.-21+3274G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=624;p3_1000G_AF=0.12460099999999996;p3_1000G_AFR_AF=0.07940000000000003;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=14104;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.036800000000000055;p3_1000G_GRCH37_POS=1581586;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:76:76,0,301
chr1	1649659	rs1267350868	T	C	683.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=6.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.212;SOR=1.673;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|4/19|c.356-22A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|4/19|c.326-22A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|4/19|c.356-22A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|4/17|c.-153-22A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|5/20|c.254-22A>G||||||,C|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|4/18|c.-159-22A>G||||||	GT:AD:DP:GQ:PL	0/1:47,28:75:99:712,0,1198
chr1	1652592	rs1380225083	A	G	1525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.96;QD=31.79;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|3/19|c.228-26T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|3/19|c.228-26T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|3/19|c.228-26T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|3/17|c.-281-26T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|4/20|c.126-26T>C||||||,G|intron_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|3/18|c.-287-26T>C||||||	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1554,144,0
chr1	1655362	rs115880964	C	T	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.88;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=2.095;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.46;SOR=0.561;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115880964;dbSNPBuildID=132;ANN=T|splice_region_variant&intron_variant|LOW|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding|3/19|c.227+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding|3/19|c.227+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding|3/19|c.227+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding|3/17|c.-282+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding|4/20|c.125+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding|3/18|c.-288+7G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14595;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1586816;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,31:63:99:670,0,789
chr1	1660271	rs867016552	T	C	21.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.72;MQRankSum=-1.981;QD=3.11;ReadPosRankSum=0.366;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=C|upstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001787.2|protein_coding||c.-2786A>G|||||1174|,C|upstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_001291345.1|protein_coding||c.-2786A>G|||||1174|,C|upstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033486.2|protein_coding||c.-2786A>G|||||1174|,C|upstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033487.2|protein_coding||c.-18284A>G|||||1174|,C|upstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033489.2|protein_coding||c.-3007A>G|||||1174|,C|upstream_gene_variant|MODIFIER|CDK11B|CDK11B|transcript|NM_033490.2|protein_coding||c.-17783A>G|||||1174|,C|downstream_gene_variant|MODIFIER|SLC35E2B|SLC35E2B|transcript|NM_001110781.2|protein_coding||c.*5511A>G|||||1207|,C|downstream_gene_variant|MODIFIER|SLC35E2B|SLC35E2B|transcript|NM_001290264.1|protein_coding||c.*5511A>G|||||1207|,C|intergenic_region|MODIFIER|CDK11B-SLC35E2B|CDK11B-SLC35E2B|intergenic_region|CDK11B-SLC35E2B|||n.1660271T>C||||||	GT:AD:DP:GQ:PL	0/1:5,2:7:50:50,0,153
chr1	1668449	rs2072923	A	G	1838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.89;QD=30.65;SOR=1.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2072923;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|SLC35E2B|SLC35E2B|transcript|NM_001110781.2|protein_coding|8/9|c.858T>C|p.Ser286Ser|1361/6025|858/1218|286/405||,G|synonymous_variant|LOW|SLC35E2B|SLC35E2B|transcript|NM_001290264.1|protein_coding|9/10|c.858T>C|p.Ser286Ser|1779/6443|858/1218|286/405||	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1867,180,0
chr1	1669665	rs117820608	G	A	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.054;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=-1.301;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117820608;dbSNPBuildID=132;ANN=A|missense_variant&splice_region_variant|MODERATE|SLC35E2B|SLC35E2B|transcript|NM_001110781.2|protein_coding|7/9|c.833C>T|p.Thr278Met|1336/6025|833/1218|278/405||,A|missense_variant&splice_region_variant|MODERATE|SLC35E2B|SLC35E2B|transcript|NM_001290264.1|protein_coding|8/10|c.833C>T|p.Thr278Met|1754/6443|833/1218|278/405||;p3_1000G_AA=G|||;p3_1000G_AC=48;p3_1000G_AF=0.00958466;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13516;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1601104;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2,1382;ESP6500_AA_GTC=0,2,690;ESP6500_CDS_SIZES=NM_001110781.1:1218;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=55;ESP6500_EA_AC=0,3182;ESP6500_EA_GTC=0,0,1591;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001110781.1:missense-near-splice;ESP6500_GL=SLC35E2B;ESP6500_GRCh38_POSITION=1:1669665;ESP6500_GS=81;ESP6500_GTC=0,2,2281;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001110781.1:c.833C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001110781.1:p.(T278M);ESP6500_MAF=0.0,0.1445,0.0438;ESP6500_PH=benign:0.009;ESP6500_TAC=2,4564	GT:AD:DP:GQ:PL	0/1:18,13:31:99:258,0,496
chr1	1670285	rs201555658	TTAC	T	203.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.64;ReadPosRankSum=-0.12;SOR=0.804;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201555658;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|SLC35E2B|SLC35E2B|transcript|NM_001110781.2|protein_coding|5/8|c.708-137_708-135delGTA||||||,T|intron_variant|MODIFIER|SLC35E2B|SLC35E2B|transcript|NM_001290264.1|protein_coding|6/9|c.708-137_708-135delGTA||||||;p3_1000G_AC=48;p3_1000G_AF=0.00958466;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16288;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1601724;p3_1000G_GRCH37_REF=TTAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,6:9:99:241,0,144
chr1	1676247	rs61776788	A	G	669.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.78;QD=27.86;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs144293222;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|SLC35E2B|SLC35E2B|transcript|NM_001110781.2|protein_coding|2/8|c.323-48T>C||||||,G|intron_variant|MODIFIER|SLC35E2B|SLC35E2B|transcript|NM_001290264.1|protein_coding|3/9|c.323-48T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:1676247_A_G:698,48,0
chr1	1676257	rs796303870	T	C	588.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27.8;QD=34.17;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=146;ANN=C|intron_variant|MODIFIER|SLC35E2B|SLC35E2B|transcript|NM_001110781.2|protein_coding|2/8|c.323-58A>G||||||,C|intron_variant|MODIFIER|SLC35E2B|SLC35E2B|transcript|NM_001290264.1|protein_coding|3/9|c.323-58A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:1676247_A_G:617,42,0
chr1	1701309	rs372590165	A	G	54.81	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=13.7;ReadPosRankSum=0.319;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372590165;dbSNPBuildID=138;ANN=G|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding||c.*1598T>C|||||1075|,G|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding||c.*1598T>C|||||1075|,G|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding||c.*1598T>C|||||1075|,G|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding||c.*1598T>C|||||1075|,G|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene||n.*1075T>C|||||1075|,G|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene||n.*1075T>C|||||1075|,G|intron_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene|4/5|n.578+51A>G||||||	GT:AD:DP:GQ:PL	0/1:1,3:4:20:83,0,20
chr1	1701565	rs185241682	G	C	124.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=35.9;MQRankSum=-0.578;QD=13.86;ReadPosRankSum=1.56;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs185241682;dbSNPBuildID=135;ANN=C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding||c.*1342C>G|||||819|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding||c.*1342C>G|||||819|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding||c.*1342C>G|||||819|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding||c.*1342C>G|||||819|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene||n.*819C>G|||||819|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene||n.*819C>G|||||819|,C|intron_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene|5/5|n.706-43G>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=8845;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1633004;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:1701565_G_C:153,0,321
chr1	1701568	rs189952872	G	C	124.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=35.9;MQRankSum=-0.578;QD=13.86;ReadPosRankSum=1.56;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189952872;dbSNPBuildID=135;ANN=C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding||c.*1339C>G|||||816|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding||c.*1339C>G|||||816|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding||c.*1339C>G|||||816|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding||c.*1339C>G|||||816|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene||n.*816C>G|||||816|,C|downstream_gene_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene||n.*816C>G|||||816|,C|intron_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene|5/5|n.706-40G>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=8158;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1633007;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:1701565_G_C:153,0,321
chr1	1703565	rs874516	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.23;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=10.447;MLEAC=1;MLEAF=0.5;MQ=53.39;MQRankSum=-3.194;QD=3.9;ReadPosRankSum=1.22;SOR=3.236;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs874516;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|18/20|c.1980A>G|p.Lys660Lys|2301/3196|1980/2352|660/783||,C|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|18/20|c.1968A>G|p.Lys656Lys|2289/3184|1968/2340|656/779||,C|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|18/20|c.1971A>G|p.Lys657Lys|2292/3187|1971/2343|657/780||,C|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|18/20|c.1941A>G|p.Lys647Lys|2262/3157|1941/2313|647/770||,C|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*1757T>C|||||1757|,C|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|18/20|n.2176A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|18/20|n.2215A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=2966;p3_1000G_AF=0.592252;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=11280;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.5626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1635004;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2321,611;ESP6500_AA_GTC=1089,143,234;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=1.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=41;ESP6500_EA_AC=4591,3553;ESP6500_EA_GTC=1481,1629,962;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:coding-synonymous,NM_024011.2:coding-synonymous;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1703565;ESP6500_GTC=2570,1772,1196;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1941A>G,NM_024011.2:c.1971A>G;ESP6500_HGVS_PROTEIN_VAR=NM_033529.2:p.(K647),NM_024011.2:p.(K657);ESP6500_MAF=43.6272,20.839,37.5948;ESP6500_TAC=6912,4164	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,4:22:99:0|1:1703565_T_C:114,0,972
chr1	1703572	rs866149312	A	G	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.23;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=10.447;MLEAC=1;MLEAF=0.5;MQ=54.45;MQRankSum=-3.651;QD=4.23;ReadPosRankSum=1.4;SOR=3.24;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1059811;dbSNPBuildID=147;ANN=G|missense_variant|MODERATE|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|18/20|c.1973T>C|p.Val658Ala|2294/3196|1973/2352|658/783||,G|missense_variant|MODERATE|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|18/20|c.1961T>C|p.Val654Ala|2282/3184|1961/2340|654/779||,G|missense_variant|MODERATE|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|18/20|c.1964T>C|p.Val655Ala|2285/3187|1964/2343|655/780||,G|missense_variant|MODERATE|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|18/20|c.1934T>C|p.Val645Ala|2255/3157|1934/2313|645/770||,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*1764A>G|||||1764|,G|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|18/20|n.2169T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|18/20|n.2208T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,4:21:99:0|1:1703565_T_C:117,0,949
chr1	1703583	rs867481320;rs1136978	A	G	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=9.863;MLEAC=1;MLEAF=0.5;MQ=55.01;MQRankSum=-4.139;QD=2.15;ReadPosRankSum=1.02;SOR=3.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1136978;dbSNPBuildID=147;ANN=G|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|18/20|c.1962T>C|p.Ser654Ser|2283/3196|1962/2352|654/783||,G|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|18/20|c.1950T>C|p.Ser650Ser|2271/3184|1950/2340|650/779||,G|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|18/20|c.1953T>C|p.Ser651Ser|2274/3187|1953/2343|651/780||,G|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|18/20|c.1923T>C|p.Ser641Ser|2244/3157|1923/2313|641/770||,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*1775A>G|||||1775|,G|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|18/20|n.2158T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|18/20|n.2197T>C||||||;ESP6500_AA=G;ESP6500_AA_AC=1303,2143;ESP6500_AA_GTC=425,453,845;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=41;ESP6500_EA_AC=129,8071;ESP6500_EA_GTC=15,99,3986;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:coding-synonymous,NM_024011.2:coding-synonymous;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1703583;ESP6500_GTC=440,552,4831;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1923T>C,NM_024011.2:c.1953T>C;ESP6500_HGVS_PROTEIN_VAR=NM_033529.2:p.(S641),NM_024011.2:p.(S651);ESP6500_MAF=1.5732,37.812,12.2961;ESP6500_TAC=1432,10214	GT:AD:DP:GQ:PL	0/1:15,4:19:69:69,0,394
chr1	1703669	rs11488590	G	A	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.866;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.24;MQRankSum=-1.014;QD=5.6;ReadPosRankSum=0.051;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11488590;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*1861G>A|||||1861|,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|17/19|c.1921-45C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|17/19|c.1909-45C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|17/19|c.1912-45C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|17/19|c.1882-45C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|17/19|n.2117-45C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|17/19|n.2156-45C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1228;p3_1000G_AF=0.245208;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=15211;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.0646;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1635108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:129,0,315
chr1	1703754	rs11486026	T	C	333.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.3;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.507;MLEAC=1;MLEAF=0.5;MQ=59.34;MQRankSum=0.402;QD=12.36;ReadPosRankSum=-0.06;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11486026;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*1946T>C|||||1946|,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|17/19|c.1920+70A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|17/19|c.1908+70A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|17/19|c.1911+70A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|17/19|c.1881+70A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|17/19|n.2116+70A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|17/19|n.2155+70A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1232;p3_1000G_AF=0.246006;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=15630;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1635193;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2106;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,12:27:99:362,0,394
chr1	1704126	rs11488591	C	T	809.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.071;SOR=0.356;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11488591;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|16/20|c.1716G>A|p.Ala572Ala|2037/3196|1716/2352|572/783||,T|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|16/20|c.1704G>A|p.Ala568Ala|2025/3184|1704/2340|568/779||,T|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|16/20|c.1707G>A|p.Ala569Ala|2028/3187|1707/2343|569/780||,T|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|16/20|c.1677G>A|p.Ala559Ala|1998/3157|1677/2313|559/770||,T|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*2318C>T|||||2318|,T|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|16/20|n.1912G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|16/20|n.1951G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1232;p3_1000G_AF=0.246006;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=13745;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.0646;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1635565;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1678,2272;ESP6500_AA_GTC=402,874,699;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=451,7805;ESP6500_EA_GTC=33,385,3710;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:coding-synonymous,NM_024011.2:coding-synonymous;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1704126;ESP6500_GTC=435,1259,4409;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1677G>A,NM_024011.2:c.1707G>A;ESP6500_HGVS_PROTEIN_VAR=NM_033529.2:p.(A559),NM_024011.2:p.(A569);ESP6500_MAF=5.4627,42.481,17.4422;ESP6500_TAC=2129,10077	GT:AD:DP:GQ:PL	0/1:19,31:50:99:838,0,396
chr1	1704180	rs2076329	T	C	408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.367;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-2.012;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076329;dbSNPBuildID=96;ANN=C|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*2372T>C|||||2372|,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|15/19|c.1696-34A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|15/19|c.1684-34A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|15/19|c.1687-34A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|15/19|c.1657-34A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|15/19|n.1892-34A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|15/19|n.1931-34A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=3240;p3_1000G_AF=0.646965;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=13669;p3_1000G_EAS_AF=0.4673;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1635619;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3446,402;ESP6500_AA_GTC=1565,316,43;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=45;ESP6500_EA_AC=4877,3373;ESP6500_EA_GTC=1527,1823,775;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1704180;ESP6500_GTC=3092,2139,818;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1657-34A>G,NM_024011.2:c.1687-34A>G;ESP6500_MAF=40.8848,10.447,31.2035;ESP6500_TAC=8323,3775	GT:AD:DP:GQ:PL	0/1:7,18:25:99:437,0,126
chr1	1704489	rs2072922	G	A	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.382;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.71;MQRankSum=-4.098;QD=5.09;ReadPosRankSum=0.152;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072922;dbSNPBuildID=96;ANN=A|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*2681G>A|||||2681|,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|14/19|c.1573+61C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|14/19|c.1561+61C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|14/19|c.1564+61C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|14/19|c.1534+61C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|14/19|n.1769+61C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|14/19|n.1808+61C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1119;p3_1000G_AF=0.223442;p3_1000G_AFR_AF=0.4191;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=13143;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1635928;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:125,0,403
chr1	1704504	rs1534950	A	C	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.016;MLEAC=1;MLEAF=0.5;MQ=55.2;MQRankSum=-4.668;QD=5.57;ReadPosRankSum=0.33;SOR=1.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1534950;dbSNPBuildID=88;ANN=C|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*2696A>C|||||2696|,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|14/19|c.1573+46T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|14/19|c.1561+46T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|14/19|c.1564+46T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|14/19|c.1534+46T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|14/19|n.1769+46T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|14/19|n.1808+46T>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1236;p3_1000G_AF=0.246805;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=13716;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1635943;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1292,2646;ESP6500_AA_GTC=340,612,1017;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=46;ESP6500_EA_AC=267,8041;ESP6500_EA_GTC=24,219,3911;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1704504;ESP6500_GTC=364,831,4928;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1534+46T>G,NM_024011.2:c.1564+46T>G;ESP6500_MAF=3.2138,32.8085,12.7307;ESP6500_TAC=1559,10687	GT:AD:DP:GQ:PL	0/1:17,7:24:99:162,0,483
chr1	1704540	rs1534951	G	C	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.191;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.589;MLEAC=1;MLEAF=0.5;MQ=54.24;MQRankSum=-4.84;QD=4.96;ReadPosRankSum=0.121;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1534951;dbSNPBuildID=88;ANN=C|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*2732G>C|||||2732|,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|14/19|c.1573+10C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|14/19|c.1561+10C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|14/19|c.1564+10C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|14/19|c.1534+10C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|14/19|n.1769+10C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|14/19|n.1808+10C>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1234;p3_1000G_AF=0.246406;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=14509;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1635979;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1598,2310;ESP6500_AA_GTC=386,826,742;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=58;ESP6500_EA_AC=393,7915;ESP6500_EA_GTC=29,335,3790;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1704540;ESP6500_GTC=415,1161,4532;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1534+10C>G,NM_024011.2:c.1564+10C>G;ESP6500_MAF=4.7304,40.8905,16.2983;ESP6500_TAC=1991,10225	GT:AD:DP:GQ:PL	0/1:24,9:33:99:192,0,677
chr1	1704605	rs1059822	G	A	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.392;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=3.118;MLEAC=1;MLEAF=0.5;MQ=52.71;MQRankSum=-4.924;QD=3.95;ReadPosRankSum=-1.031;SOR=1.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1059822;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|14/20|c.1518C>T|p.Tyr506Tyr|1839/3196|1518/2352|506/783||,A|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|14/20|c.1506C>T|p.Tyr502Tyr|1827/3184|1506/2340|502/779||,A|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|14/20|c.1509C>T|p.Tyr503Tyr|1830/3187|1509/2343|503/780||,A|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|14/20|c.1479C>T|p.Tyr493Tyr|1800/3157|1479/2313|493/770||,A|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*2797G>A|||||2797|,A|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|14/20|n.1714C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|14/20|n.1753C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=3245;p3_1000G_AF=0.647963;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=12267;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1636044;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3327,455;ESP6500_AA_GTC=1515,297,79;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=-1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=69;ESP6500_EA_AC=4669,3603;ESP6500_EA_GTC=1482,1705,949;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:coding-synonymous,NM_024011.2:coding-synonymous;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1704605;ESP6500_GTC=2997,2002,1028;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1479C>T,NM_024011.2:c.1509C>T;ESP6500_HGVS_PROTEIN_VAR=NM_033529.2:p.(Y493),NM_024011.2:p.(Y503);ESP6500_MAF=43.5566,12.0307,33.6652;ESP6500_TAC=7996,4058	GT:AD:DP:GQ:PL	0/1:37,11:48:99:218,0,1037
chr1	1704673	rs4288535	G	A	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.014;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=7.43;MLEAC=1;MLEAF=0.5;MQ=55.77;MQRankSum=-0.557;QD=4.02;ReadPosRankSum=0.507;SOR=1.094;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4288535;dbSNPBuildID=111;ANN=A|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*2865G>A|||||2865|,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|13/19|c.1468-18C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|13/19|c.1456-18C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|13/19|c.1459-18C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|13/19|c.1429-18C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|13/19|n.1664-18C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|13/19|n.1703-18C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1188;p3_1000G_AF=0.23722;p3_1000G_AFR_AF=0.4773;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=15709;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1636112;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1400,2320;ESP6500_AA_GTC=277,846,737;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=28;ESP6500_EA_AC=392,7768;ESP6500_EA_GTC=24,344,3712;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1704673;ESP6500_GTC=301,1190,4449;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1429-18C>T,NM_024011.2:c.1459-18C>T;ESP6500_MAF=4.8039,37.6344,15.0842;ESP6500_TAC=1792,10088	GT:AD:DP:GQ:PL	0/1:36,11:47:99:217,0,979
chr1	1704916	rs1136999	A	G	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.72;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=18.807;MLEAC=1;MLEAF=0.5;MQ=55.93;MQRankSum=-5.614;QD=5.47;ReadPosRankSum=0.253;SOR=4.407;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2377226;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|13/20|c.1455T>C|p.Ile485Ile|1776/3196|1455/2352|485/783||,G|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|13/20|c.1443T>C|p.Ile481Ile|1764/3184|1443/2340|481/779||,G|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|13/20|c.1446T>C|p.Ile482Ile|1767/3187|1446/2343|482/780||,G|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|13/20|c.1416T>C|p.Ile472Ile|1737/3157|1416/2313|472/770||,G|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*3108A>G|||||3108|,G|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|13/20|n.1651T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|13/20|n.1690T>C||||||	GT:AD:DP:GQ:PL	0/1:28,8:36:99:225,0,752
chr1	1704961	rs1059825;rs144690660	G	A	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=21.779;MLEAC=1;MLEAF=0.5;MQ=53.13;MQRankSum=-5.102;QD=6.33;ReadPosRankSum=0.16;SOR=4.676;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144690660;dbSNPBuildID=86;ANN=A|sequence_feature|MODERATE|CDK11A|CDK11A|modified-residue:Phosphoserine|NM_024011.3|protein_coding|13/20|c.1401C>T||||||,A|sequence_feature|MODERATE|CDK11A|CDK11A|modified-residue:Phosphoserine|NM_033529.3|protein_coding|13/20|c.1371C>T||||||,A|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|13/20|c.1410C>T|p.Ser470Ser|1731/3196|1410/2352|470/783||,A|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|13/20|c.1398C>T|p.Ser466Ser|1719/3184|1398/2340|466/779||,A|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|13/20|c.1401C>T|p.Ser467Ser|1722/3187|1401/2343|467/780||,A|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|13/20|c.1371C>T|p.Ser457Ser|1692/3157|1371/2313|457/770||,A|downstream_gene_variant|MODIFIER|MMP23A|MMP23A.2|transcript|NR_002946.1.2|pseudogene||n.*3153G>A|||||3153|,A|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|13/20|n.1606C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|13/20|n.1645C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=525;p3_1000G_AF=0.104832;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=15690;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1636400;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=462,3488;ESP6500_AA_GTC=210,42,1723;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=228;ESP6500_EA_AC=57,8289;ESP6500_EA_GTC=23,11,4139;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:coding-synonymous,NM_024011.2:coding-synonymous;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1704961;ESP6500_GTC=233,53,5862;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1371C>T,NM_024011.2:c.1401C>T;ESP6500_HGVS_PROTEIN_VAR=NM_033529.2:p.(S457),NM_024011.2:p.(S467);ESP6500_MAF=0.683,11.6962,4.2209;ESP6500_TAC=519,11777	GT:AD:DP:GQ:PL	0/1:29,10:39:99:275,0,791
chr1	1708051	rs533440831	G	C	205.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.92;MQRankSum=0.558;QD=15.83;ReadPosRankSum=-0.502;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|10/19|c.1078+129C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|10/19|c.1066+129C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|10/19|c.1069+129C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|10/19|c.1039+129C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|10/19|n.1390+129C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|10/19|n.1429+129C>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1050;p3_1000G_AF=0.209665;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=14761;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1639490;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:234,0,125
chr1	1708131	rs141165289	C	T	206.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37.95;MQRankSum=-0.829;QD=9.85;ReadPosRankSum=0.336;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141165289;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|10/19|c.1078+49G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|10/19|c.1066+49G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|10/19|c.1069+49G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|10/19|c.1039+49G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|10/19|n.1390+49G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|10/19|n.1429+49G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1146;p3_1000G_AF=0.228834;p3_1000G_AFR_AF=0.4372;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=15025;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1639570;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1301,2439;ESP6500_AA_GTC=198,905,767;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=31;ESP6500_EA_AC=403,7683;ESP6500_EA_GTC=27,349,3667;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1708131;ESP6500_GTC=225,1254,4434;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.1039+49G>A,NM_024011.2:c.1069+49G>A;ESP6500_MAF=4.9839,34.7861,14.4089;ESP6500_TAC=1704,10122	GT:AD:DP:GQ:PL	0/1:11,10:21:99:235,0,219
chr1	1708248	rs56409248;rs200014331	G	A	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.028;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.708;MLEAC=1;MLEAF=0.5;MQ=41.98;MQRankSum=-2.401;QD=4.63;ReadPosRankSum=1.91;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200014331;dbSNPBuildID=129;ANN=A|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|9/19|c.1013-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|9/19|c.1001-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|9/19|c.1004-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|9/19|c.974-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|9/19|n.1325-3C>T||||||,A|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|9/19|n.1364-3C>T||||||;ESP6500_AA=G;ESP6500_AA_AC=1097,2379;ESP6500_AA_GTC=137,823,778;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=3.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=17;ESP6500_EA_AC=311,7661;ESP6500_EA_GTC=14,283,3689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1708248;ESP6500_GTC=151,1106,4467;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.974-3C>T,NM_024011.2:c.1004-3C>T;ESP6500_MAF=3.9012,31.5593,12.2991;ESP6500_TAC=1408,10040	GT:AD:DP:GQ:PL	0/1:12,5:17:99:107,0,360
chr1	1708728	rs372272994	C	T	211.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.211;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.701;MLEAC=1;MLEAF=0.5;MQ=37.27;MQRankSum=0.219;QD=3.47;ReadPosRankSum=-0.793;SOR=0.268;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372272994;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|9/19|c.1012+66G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|9/19|c.1000+66G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|9/19|c.1003+66G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|9/19|c.973+66G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|9/19|n.1324+66G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|9/19|n.1363+66G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1145;p3_1000G_AF=0.228634;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=16600;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1640167;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:52,9:61:99:0|1:1708728_C_T:240,0,2268
chr1	1708737	rs374271015	G	C	273.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=5.266;MLEAC=1;MLEAF=0.5;MQ=38.13;MQRankSum=0.444;QD=4.28;ReadPosRankSum=-1.362;SOR=0.206;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374271015;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|9/19|c.1012+57C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|9/19|c.1000+57C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|9/19|c.1003+57C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|9/19|c.973+57C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|9/19|n.1324+57C>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|9/19|n.1363+57C>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1145;p3_1000G_AF=0.228634;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=16714;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1640176;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:53,11:64:99:0|1:1708728_C_T:302,0,2298
chr1	1708738	rs368433828	G	A	273.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.437;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=5.266;MLEAC=1;MLEAF=0.5;MQ=38.13;MQRankSum=0.444;QD=4.28;ReadPosRankSum=-1.344;SOR=0.206;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368433828;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|9/19|c.1012+56C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|9/19|c.1000+56C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|9/19|c.1003+56C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|9/19|c.973+56C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|9/19|n.1324+56C>T||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|9/19|n.1363+56C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1145;p3_1000G_AF=0.228634;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=16729;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1640177;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:53,11:64:99:0|1:1708728_C_T:302,0,2298
chr1	1708770	rs377204166	C	T	140.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.004;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=2.45;MLEAC=1;MLEAF=0.5;MQ=38.51;MQRankSum=-0.147;QD=1.8;ReadPosRankSum=-0.498;SOR=0.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs377204166;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|9/19|c.1012+24G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|9/19|c.1000+24G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|9/19|c.1003+24G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|9/19|c.973+24G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|9/19|n.1324+24G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|9/19|n.1363+24G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1021;p3_1000G_AF=0.203874;p3_1000G_AFR_AF=0.4395;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=16034;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1640209;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:63,15:78:99:169,0,1542
chr1	1712820	rs368885422	T	C	464.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.61;QD=30.98;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs368885422;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|5/19|c.459-420A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|5/19|c.459-393A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|5/19|c.489-420A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|5/19|c.459-420A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|5/19|n.810-420A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|5/19|n.810-420A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=10414;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1644259;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:493,45,0
chr1	1716210	rs70937179	C	CT	1131.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.168;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.16;MQRankSum=-2.174;QD=21.35;ReadPosRankSum=1.45;SOR=0.765;INS;HET;VARTYPE=INS;dbSNP138_ID=rs146545563,rs70937179;dbSNPBuildID=130;ANN=CT|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|5/19|c.458+135_458+136insA||||||,CT|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|5/19|c.458+135_458+136insA||||||,CT|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|5/19|c.488+135_488+136insA||||||,CT|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|5/19|c.458+135_458+136insA||||||,CT|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|5/19|n.809+135_809+136insA||||||,CT|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|5/19|n.809+135_809+136insA||||||;p3_1000G_AA=|||unknown(ALL_OTHER_Ns);p3_1000G_AC=3329;p3_1000G_AF=0.664736;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=21375;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.9155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1647649;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:21,32:53:99:1169,0,682
chr1	1716247	rs909823	A	C	1312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=2.367;MLEAC=1;MLEAF=0.5;MQ=59.06;MQRankSum=-1.091;QD=17.74;ReadPosRankSum=0.093;SOR=0.391;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs909823;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|5/19|c.458+99T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|5/19|c.458+99T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|5/19|c.488+99T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|5/19|c.458+99T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|5/19|n.809+99T>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|5/19|n.809+99T>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=3766;p3_1000G_AF=0.751997;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=19007;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.9215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1647686;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7843;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1341,0,989
chr1	1716489	rs1883424	A	G	1238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.33;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.08;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1883424;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|4/19|c.326-11T>C||||||,G|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|4/19|c.326-11T>C||||||,G|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|4/19|c.356-11T>C||||||,G|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|4/19|c.326-11T>C||||||,G|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|4/19|n.677-11T>C||||||,G|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|4/19|n.677-11T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=1740;p3_1000G_AF=0.347444;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=18948;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.3986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1647928;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1267,0,1804
chr1	1719368	rs1137005	T	C	931.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.874;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=2.855;MLEAC=1;MLEAF=0.5;MQ=59.9;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.488;SOR=1.043;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1137005;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|4/20|c.315A>G|p.Arg105Arg|636/3196|315/2352|105/783||,C|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|4/20|c.315A>G|p.Arg105Arg|636/3184|315/2340|105/779||,C|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|4/20|c.315A>G|p.Arg105Arg|636/3187|315/2343|105/780||,C|synonymous_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|4/20|c.315A>G|p.Arg105Arg|636/3157|315/2313|105/770||,C|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|4/20|n.636A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|4/20|n.636A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=3743;p3_1000G_AF=0.747404;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=18955;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.9215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1650807;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:47,39:86:99:960,0,1199
chr1	1719406	rs1059831	G	A	723.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.88;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.146;SOR=0.625;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1059831;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|4/20|c.277C>T|p.Arg93Trp|598/3196|277/2352|93/783||,A|missense_variant|MODERATE|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|4/20|c.277C>T|p.Arg93Trp|598/3184|277/2340|93/779||,A|missense_variant|MODERATE|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|4/20|c.277C>T|p.Arg93Trp|598/3187|277/2343|93/780||,A|missense_variant|MODERATE|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|4/20|c.277C>T|p.Arg93Trp|598/3157|277/2313|93/770||,A|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|4/20|n.598C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|4/20|n.598C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=3743;p3_1000G_AF=0.747404;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=18418;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.9215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1650845;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1388,2402;ESP6500_AA_GTC=1,1386,508;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=231;ESP6500_EA_AC=4017,4215;ESP6500_EA_GTC=4,4009,103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:missense,NM_024011.2:missense;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1719406;ESP6500_GS=101,101;ESP6500_GTC=5,5395,611;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.277C>T,NM_024011.2:c.277C>T;ESP6500_HGVS_PROTEIN_VAR=NM_033529.2:p.(R93W),NM_024011.2:p.(R93W);ESP6500_MAF=48.7974,36.6227,44.9592;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=5405,6617	GT:AD:DP:GQ:PL	0/1:39,32:71:99:752,0,1110
chr1	1721565	rs36039898	T	C	748.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=3.186;MLEAC=1;MLEAF=0.5;MQ=58.64;MQRankSum=-3.729;QD=10.12;ReadPosRankSum=-1.024;SOR=0.732;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36039898;dbSNPBuildID=126;ANN=C|downstream_gene_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding||c.*3849A>G|||||3273|,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|3/19|c.227+31A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|3/19|c.227+31A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|3/19|c.227+31A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|3/19|c.227+31A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|3/19|n.548+31A>G||||||,C|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|3/19|n.548+31A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=3743;p3_1000G_AF=0.747404;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=16945;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.9225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1653004;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2117,1709;ESP6500_AA_GTC=649,819,445;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=57;ESP6500_EA_AC=7617,597;ESP6500_EA_GTC=3572,473,62;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1721565;ESP6500_GTC=4221,1292,507;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.227+31A>G,NM_024011.2:c.227+31A>G;ESP6500_MAF=7.2681,44.6681,19.1528;ESP6500_TAC=9734,2306	GT:AD:DP:GQ:PL	0/1:43,31:74:99:777,0,1043
chr1	1721589	rs16825265	C	T	809.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.417;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.79;MQRankSum=-3.424;QD=9.76;ReadPosRankSum=-1.636;SOR=0.769;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16825265;dbSNPBuildID=123;ANN=T|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|3/19|c.227+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|3/19|c.227+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|3/19|c.227+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|3/19|c.227+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|3/19|n.548+7G>A||||||,T|splice_region_variant&intron_variant|LOW|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|3/19|n.548+7G>A||||||,T|downstream_gene_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding||c.*3825G>A|||||3249|;p3_1000G_AA=-|||;p3_1000G_AC=3743;p3_1000G_AF=0.747404;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=16028;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.9225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1653028;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2148,1678;ESP6500_AA_GTC=648,852,413;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=0.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=83;ESP6500_EA_AC=7641,577;ESP6500_EA_GTC=3576,489,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1721589;ESP6500_GTC=4224,1341,457;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.227+7G>A,NM_024011.2:c.227+7G>A;ESP6500_MAF=7.0212,43.8578,18.723;ESP6500_TAC=9789,2255	GT:AD:DP:GQ:PL	0/1:45,38:83:99:838,0,987
chr1	1722619	rs61777495	C	T	52.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.255;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.99;MQRankSum=-2.824;QD=2.93;ReadPosRankSum=-0.296;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61777495;dbSNPBuildID=129;ANN=T|downstream_gene_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_182838.2|protein_coding||c.*9836G>A|||||4766|,T|downstream_gene_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding||c.*2795G>A|||||2219|,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|2/19|c.111+89G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|2/19|c.111+89G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|2/19|c.111+89G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|2/19|c.111+89G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|2/19|n.432+89G>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|2/19|n.432+89G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,3:18:81:0|1:1722619_C_T:81,0,1010
chr1	1722625	rs200615789	A	T	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.318;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.99;MQRankSum=-2.824;QD=2.76;ReadPosRankSum=0.238;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200615789;dbSNPBuildID=137;ANN=T|downstream_gene_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_182838.2|protein_coding||c.*9830T>A|||||4760|,T|downstream_gene_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding||c.*2789T>A|||||2213|,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|2/19|c.111+83T>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|2/19|c.111+83T>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|2/19|c.111+83T>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|2/19|c.111+83T>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|2/19|n.432+83T>A||||||,T|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|2/19|n.432+83T>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=3341;p3_1000G_AF=0.667133;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=10439;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.8757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1654064;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,3:18:78:0|1:1722619_C_T:78,0,1052
chr1	1722626	rs35174499	AGCG	A	37.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.111;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.18;MQRankSum=-2.761;QD=1.89;ReadPosRankSum=0.356;SOR=0.784;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35174499;dbSNPBuildID=137;ANN=A|downstream_gene_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_182838.2|protein_coding||c.*9826_*9828delCGC|||||4758|,A|downstream_gene_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding||c.*2785_*2787delCGC|||||2211|,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313896.1|protein_coding|2/19|c.111+79_111+81delCGC||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_001313982.1|protein_coding|2/19|c.111+79_111+81delCGC||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_024011.3|protein_coding|2/19|c.111+79_111+81delCGC||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NM_033529.3|protein_coding|2/19|c.111+79_111+81delCGC||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132739.1|pseudogene|2/19|n.432+79_432+81delCGC||||||,A|intron_variant|MODIFIER|CDK11A|CDK11A|transcript|NR_132740.1|pseudogene|2/19|n.432+79_432+81delCGC||||||;p3_1000G_AC=3341;p3_1000G_AF=0.667133;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=10274;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.8757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1654065;p3_1000G_GRCH37_REF=AGCG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=INDEL;ESP6500_AA_AC=973,2301;ESP6500_AA_GTC=287,399,951;ESP6500_CDS_SIZES=NM_033529.2:2313,NM_024011.2:2343;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=22;ESP6500_EA_AC=5781,1517;ESP6500_EA_GTC=2425,931,293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033529.2:intron,NM_024011.2:intron;ESP6500_GL=CDK11A;ESP6500_GRCh38_POSITION=1:1722626;ESP6500_GTC=2712,1330,1244;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_033529.2:c.111+79_111+81del3,NM_024011.2:c.111+79_111+81del3;ESP6500_MAF=20.7865,29.719,36.1143;ESP6500_TAC=6754,3818	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,3:20:75:0|1:1722619_C_T:75,0,1086
chr1	1732580	rs2294488	T	C	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.414;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=0.833;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294488;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_182838.2|protein_coding|5/5|c.733-57A>G||||||,C|intron_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding|6/6|c.732+2110A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=3440;p3_1000G_AF=0.686901;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=16290;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.9076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1664019;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP;ESP6500_AA_AC=696,686;ESP6500_AA_GTC=192,312,187;ESP6500_CDS_SIZES=NM_182838.2:801,NM_001199787.1:741;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=37;ESP6500_EA_AC=2934,232;ESP6500_EA_GTC=1368,198,17;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182838.2:intron,NM_001199787.1:intron;ESP6500_GL=SLC35E2;ESP6500_GRCh38_POSITION=1:1732580;ESP6500_GTC=1560,510,204;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_182838.2:c.733-57A>G,NM_001199787.1:c.732+2110A>G;ESP6500_MAF=7.3279,49.6382,20.1847;ESP6500_TAC=3630,918	GT:AD:DP:GQ:PL	0/1:13,7:20:99:155,0,385
chr1	1739107	rs201173912	G	A	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.856;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=8.426;MLEAC=1;MLEAF=0.5;MQ=51.86;MQRankSum=0.988;QD=9.71;ReadPosRankSum=-1.178;SOR=1.272;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201173912;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_182838.2|protein_coding|2/5|c.323-50C>T||||||,A|intron_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding|3/6|c.323-50C>T||||||;ESP6500_AA=G;ESP6500_AA_AC=154,4248;ESP6500_AA_GTC=1,152,2048;ESP6500_CDS_SIZES=NM_182838.2:801,NM_001199787.1:741;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=40;ESP6500_EA_AC=35,8555;ESP6500_EA_GTC=0,35,4260;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182838.2:intron,NM_001199787.1:intron;ESP6500_GL=SLC35E2;ESP6500_GRCh38_POSITION=1:1739107;ESP6500_GTC=1,187,6308;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182838.2:c.323-50C>T,NM_001199787.1:c.323-50C>T;ESP6500_MAF=0.4075,3.4984,1.4547;ESP6500_TAC=189,12803	GT:AD:DP:GQ:PL	0/1:20,12:32:99:339,0,780
chr1	1739115	rs61777513	T	C	515.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=11.536;MLEAC=1;MLEAF=0.5;MQ=50.58;MQRankSum=-0.984;QD=16.12;ReadPosRankSum=1.43;SOR=1.447;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202020008;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_182838.2|protein_coding|2/5|c.323-58A>G||||||,C|intron_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding|3/6|c.323-58A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=719;p3_1000G_AF=0.14357;p3_1000G_AFR_AF=0.3525;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=15327;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.0099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1670554;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,19:32:99:544,0,440
chr1	1739131	rs61777514	T	C	57.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.6;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=20.443;MLEAC=1;MLEAF=0.5;MQ=47.29;MQRankSum=-2.173;QD=1.93;ReadPosRankSum=0.225;SOR=3.59;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150051592;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_182838.2|protein_coding|2/5|c.323-74A>G||||||,C|intron_variant|MODIFIER|SLC35E2|SLC35E2|transcript|NM_001199787.1|protein_coding|3/6|c.323-74A>G||||||	GT:AD:DP:GQ:PL	0/1:25,5:30:86:86,0,731
chr1	1753774	rs2072928	C	G	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.579;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-0.18;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072928;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198994.1|protein_coding|12/13|c.1537-125G>C||||||,G|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198995.1|protein_coding|8/9|c.1006-125G>C||||||,G|intron_variant|MODIFIER|NADK|NADK|transcript|NM_023018.4|protein_coding|10/11|c.1102-125G>C||||||,G|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198993.1|protein_coding|10/11|c.1102-125G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3536;p3_1000G_AF=0.70607;p3_1000G_AFR_AF=0.4516;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=17579;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.9076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1685213;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:149,0,109
chr1	1756389	rs34258219	C	T	900.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.245;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.03;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-0.561;SOR=0.519;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34258219;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198994.1|protein_coding|7/13|c.935-46G>A||||||,T|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198995.1|protein_coding|3/9|c.404-46G>A||||||,T|intron_variant|MODIFIER|NADK|NADK|transcript|NM_023018.4|protein_coding|5/11|c.500-46G>A||||||,T|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198993.1|protein_coding|5/11|c.500-46G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=371;p3_1000G_AF=0.0740815;p3_1000G_AFR_AF=0.1831;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=18595;p3_1000G_EAS_AF=0.0923;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1687828;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=822,3584;ESP6500_AA_AGE=323.7+/-298.2;ESP6500_AA_GTC=65,692,1446;ESP6500_CDS_SIZES=NM_023018.4:1341,NM_001198995.1:1245,NM_001198994.1:1776,NM_001198993.1:1341;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=64;ESP6500_EA_AC=62,8538;ESP6500_EA_AGE=39.3+/-95.6;ESP6500_EA_GTC=0,62,4238;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023018.4:intron,NM_001198995.1:intron,NM_001198994.1:intron,NM_001198993.1:intron;ESP6500_GL=NADK;ESP6500_GRCh38_POSITION=1:1756389;ESP6500_GTC=65,754,5684;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_023018.4:c.500-46G>A,NM_001198995.1:c.404-46G>A,NM_001198994.1:c.935-46G>A,NM_001198993.1:c.500-46G>A;ESP6500_MAF=0.7209,18.6564,6.7969;ESP6500_TAC=884,12122	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,32:56:99:0|1:1756379_C_A:929,0,642
chr1	1757030	rs4648623	C	G	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.943;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.551;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648623;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198994.1|protein_coding|6/13|c.779+77G>C||||||,G|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198995.1|protein_coding|2/9|c.297+151G>C||||||,G|intron_variant|MODIFIER|NADK|NADK|transcript|NM_023018.4|protein_coding|4/11|c.393+151G>C||||||,G|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198993.1|protein_coding|4/11|c.393+151G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3574;p3_1000G_AF=0.713658;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=11218;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.9076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1688469;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,22:45:99:0|1:1757029_C_T:540,0,577
chr1	1758323	rs2235537	T	C	673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.08;SOR=0.994;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235537;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198994.1|protein_coding|5/13|c.575+778A>G||||||,C|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198995.1|protein_coding|1/9|c.167+42A>G||||||,C|intron_variant|MODIFIER|NADK|NADK|transcript|NM_023018.4|protein_coding|3/11|c.264-1013A>G||||||,C|intron_variant|MODIFIER|NADK|NADK|transcript|NM_001198993.1|protein_coding|3/11|c.264-1013A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1801;p3_1000G_AF=0.359625;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=18139;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.4215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1689762;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=618,1134;ESP6500_AA_GTC=107,404,365;ESP6500_CDS_SIZES=NM_023018.4:1341,NM_001198995.1:1245,NM_001198994.1:1776,NM_001198993.1:1341;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=55;ESP6500_EA_AC=1722,2260;ESP6500_EA_GTC=374,974,643;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023018.4:intron,NM_001198995.1:intron,NM_001198994.1:intron,NM_001198993.1:intron;ESP6500_GL=NADK;ESP6500_GRCh38_POSITION=1:1758323;ESP6500_GTC=481,1378,1008;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_023018.4:c.264-1013A>G,NM_001198995.1:c.167+42A>G,NM_001198994.1:c.575+778A>G,NM_001198993.1:c.264-1013A>G;ESP6500_MAF=43.2446,35.274,40.8092;ESP6500_TAC=2340,3394	GT:AD:DP:GQ:PL	0/1:30,24:54:99:702,0,804
chr1	1765220	rs5021859	A	G	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.094;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=6.107;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0;SOR=0.076;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368217415,rs5021859;dbSNPBuildID=129;ANN=G|splice_region_variant&intron_variant|LOW|NADK|NADK|transcript|NM_001198994.1|protein_coding|2/13|c.179+8T>C||||||,G|splice_region_variant&intron_variant|LOW|NADK|NADK|transcript|NM_023018.4|protein_coding|2/11|c.179+8T>C||||||,G|splice_region_variant&intron_variant|LOW|NADK|NADK|transcript|NM_001198993.1|protein_coding|2/11|c.179+8T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3712;p3_1000G_AF=0.741214;p3_1000G_AFR_AF=0.4955;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=15270;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.9314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1696659;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2627,1779;ESP6500_AA_AGE=498.9+/-364.3;ESP6500_AA_GTC=790,1047,366;ESP6500_CDS_SIZES=NM_023018.4:1341,NM_001198994.1:1776,NM_001198993.1:1341;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_113;ESP6500_DP=53;ESP6500_EA_AC=8131,469;ESP6500_EA_AGE=135.1+/-192.4;ESP6500_EA_GTC=3839,453,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023018.4:intron,NM_001198994.1:intron,NM_001198993.1:intron;ESP6500_GL=NADK;ESP6500_GRCh38_POSITION=1:1765220;ESP6500_GTC=4629,1500,374;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_023018.4:c.179+8T>C,NM_001198994.1:c.179+8T>C,NM_001198993.1:c.179+8T>C;ESP6500_MAF=5.4535,40.3768,17.2843;ESP6500_TAC=10758,2248	GT:AD:DP:GQ:PL	0/1:7,11:18:99:296,0,193
chr1	1915143	rs2748987	A	G	268.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.6;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2748987;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|CALML6|CALML6|transcript|NM_138705.2|protein_coding|1/6|c.-138A>G|||||138|,G|downstream_gene_variant|MODIFIER|TMEM52|TMEM52|transcript|NM_178545.3|protein_coding||c.*2739T>C|||||2447|;p3_1000G_AA=G|||;p3_1000G_AC=4226;p3_1000G_AF=0.84385;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=19166;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.7903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1846582;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:297,21,0
chr1	1919036	rs369844523	C	G	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.216;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.63;ReadPosRankSum=0.959;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369844523;dbSNPBuildID=138;ANN=G|downstream_gene_variant|MODIFIER|CALML6|CALML6|transcript|NM_138705.2|protein_coding||c.*1843C>G|||||1742|,G|downstream_gene_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding||c.*3251G>C|||||2915|,G|intron_variant|MODIFIER|TMEM52|TMEM52|transcript|NM_178545.3|protein_coding|2/4|c.128+9G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=11367;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1850475;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,12:14:37:401,0,37
chr1	1922176	rs113294876;rs3039777	T	TCTGA	682.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.57;SOR=5.67;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3039777,rs113294876;dbSNPBuildID=132,102;ANN=TCTGA|3_prime_UTR_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|39/39|c.*110_*111insTCAG|||||110|,TCTGA|upstream_gene_variant|MODIFIER|TMEM52|TMEM52|transcript|NM_178545.3|protein_coding||c.-2912_-2911insTCAG|||||2876|,TCTGA|downstream_gene_variant|MODIFIER|CALML6|CALML6|transcript|NM_138705.2|protein_coding||c.*4983_*4984insCTGA|||||4883|;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15898;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1853615;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,16:16:48:720,48,0
chr1	1922882	rs2250833	A	G	342.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.16;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2250833;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|TMEM52|TMEM52|transcript|NM_178545.3|protein_coding||c.-3617T>C|||||3581|,G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|37/38|c.4683+103T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4204;p3_1000G_AF=0.839457;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=15465;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.7753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1854321;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7873;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:371,33,0
chr1	1924011	rs28423370	A	G	648.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=5.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28423370;dbSNPBuildID=125;ANN=G|upstream_gene_variant|MODIFIER|TMEM52|TMEM52|transcript|NM_178545.3|protein_coding||c.-4746T>C|||||4710|,G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|34/38|c.4235-82T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4290;p3_1000G_AF=0.856629;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=7161;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1855450;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:677,48,0
chr1	1924659	rs752965	C	T	329.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs752965;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|33/38|c.4105-139G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1204;p3_1000G_AF=0.240415;p3_1000G_AFR_AF=0.3888;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=13707;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.2396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1856098;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:358,30,0
chr1	1927692	rs4648734	C	T	1589.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30;SOR=0.808;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4648734;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|28/39|c.3442G>A|p.Val1148Ile|3598/5412|3442/4920|1148/1639||;p3_1000G_AA=C|||;p3_1000G_AC=924;p3_1000G_AF=0.184505;p3_1000G_AFR_AF=0.1891;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=17062;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.2366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1859131;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1618,159,0
chr1	1938771	rs2803323	G	A	555.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2803323;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|25/38|c.3011+84C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=4180;p3_1000G_AF=0.834665;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=18927;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1870210;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7873;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:584,57,0
chr1	1942186	rs12758705	G	A	1398.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=1.259;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12758705;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|21/38|c.2487-30C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=906;p3_1000G_AF=0.180911;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=17872;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1873625;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1427,126,0
chr1	1955580	rs28548017	A	G	242.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28548017;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|18/38|c.2176+111T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3995;p3_1000G_AF=0.797724;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=16231;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.8052;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1887019;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2947,833;ESP6500_AA_GTC=1154,639,97;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=78;ESP6500_EA_AC=6729,1459;ESP6500_EA_GTC=2765,1199,130;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080484.1:stop-lost;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1955580;ESP6500_GTC=3919,1838,227;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.2287T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(*763Qext6);ESP6500_MAF=17.8188,22.037,19.1511;ESP6500_TAC=9676,2292	GT:AD:DP:GQ:PL	1/1:0,8:8:24:271,24,0
chr1	1955652	rs139735565;rs3838976	CG	C	355.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs139735565;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|18/38|c.2176+38delC||||||;p3_1000G_AA=G|G|-|deletion;p3_1000G_AC=942;p3_1000G_AF=0.188099;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=13367;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.2485;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1887091;p3_1000G_GRCH37_REF=CG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=INDEL;ESP6500_AA_AC=125,483,3170;ESP6500_AA_GTC=44,0,37,41,401,1366;ESP6500_CDS_SIZES=NM_001080484.1:2289,NM_001080484.1:2289;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=51;ESP6500_EA_AC=14,2018,5872;ESP6500_EA_GTC=2,0,10,282,1454,2204;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:frameshift,NM_001080484.1:frameshift;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1955652;ESP6500_GTC=46,0,47,323,1855,3570;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.2214del3,NM_001080484.1:c.2213_2214del2;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(A738del1),NM_001080484.1:p.(G739*fs*1);ESP6500_MAF=25.7085,16.0932,22.5989;ESP6500_TAC=139,2501,9042	GT:AD:DP:GQ:PL	1/1:0,10:10:30:393,30,0
chr1	1955672	rs3838975;rs796266880	GC	G	483.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.55;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3838975;dbSNPBuildID=107,146;ANN=G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|18/38|c.2176+18delG||||||;p3_1000G_AA=CC|CC|C|deletion;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=12880;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.2475;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1887111;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=INDEL;ESP6500_AA_AC=512,3372;ESP6500_AA_GTC=50,412,1480;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=46;ESP6500_EA_AC=2092,5888;ESP6500_EA_GTC=286,1520,2184;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:frameshift;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1955672;ESP6500_GTC=336,1932,3664;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.2194del1;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(A732Pfs*40);ESP6500_MAF=26.2155,13.1823,21.9488;ESP6500_TAC=2604,9260	GT:AD:DP:GQ:PL	1/1:0,14:14:42:521,42,0
chr1	1955806	rs28575980	G	A	1345.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=0.929;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28575980;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|18/39|c.2061C>T|p.Ala687Ala|2217/5412|2061/4920|687/1639||;p3_1000G_AA=G|||;p3_1000G_AC=908;p3_1000G_AF=0.18131;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=17542;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.2316;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1887245;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=517,3601;ESP6500_AA_GTC=38,441,1580;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=47;ESP6500_EA_AC=2075,6339;ESP6500_EA_GTC=258,1559,2390;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:coding-synonymous;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1955806;ESP6500_GTC=296,2000,3970;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.2061C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(A687);ESP6500_MAF=24.6613,12.5546,20.6831;ESP6500_TAC=2592,9940	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,45:45:99:1|1:1955806_G_A:1374,135,0
chr1	1956754	rs3820011	C	A	2182.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820011;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|17/39|c.1882G>T|p.Gly628Cys|2038/5412|1882/4920|628/1639||;p3_1000G_AA=C|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=19634;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.2455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1888193;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=566,3756;ESP6500_AA_GTC=44,478,1639;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=58;ESP6500_EA_AC=2242,6272;ESP6500_EA_GTC=294,1654,2309;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080484.1:missense;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1956754;ESP6500_GS=159;ESP6500_GTC=338,2132,3948;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.1882G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(G628C);ESP6500_MAF=26.3331,13.0958,21.876;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=2808,10028	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2211,225,0
chr1	1965001	rs16824585	G	A	539.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16824585;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|13/39|c.1462C>T|p.Leu488Leu|1618/5412|1462/4920|488/1639||;p3_1000G_AA=g|||;p3_1000G_AC=1085;p3_1000G_AF=0.216653;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=16690;p3_1000G_EAS_AF=0.2718;p3_1000G_EUR_AF=0.2276;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1896440;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA_AC=949,3145;ESP6500_AA_GTC=126,697,1224;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=43;ESP6500_EA_AC=2052,6326;ESP6500_EA_GTC=258,1536,2395;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:coding-synonymous;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1965001;ESP6500_GTC=384,2233,3619;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.1462C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(L488);ESP6500_MAF=24.4927,23.1803,24.0619;ESP6500_TAC=3001,9471	GT:AD:DP:GQ:PL	1/1:0,18:18:54:568,54,0
chr1	1966314	rs4648600	C	G	1116.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4648600;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|12/38|c.1401+57G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=941;p3_1000G_AF=0.187899;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=12673;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1897753;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1145,102,0
chr1	1966606	rs28712827	G	A	170.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28712827;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|11/38|c.1246-80C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.1195;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=12238;p3_1000G_EAS_AF=0.2817;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1898045;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:199,15,0
chr1	1968585	rs56985589	TG	T	649.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=1.061;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56985589;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|11/38|c.1245+49delC||||||;p3_1000G_AA=G|G|-|deletion;p3_1000G_AC=1013;p3_1000G_AF=0.202276;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=20959;p3_1000G_EAS_AF=0.3323;p3_1000G_EUR_AF=0.2416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1900024;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=INDEL;ESP6500_AA_AC=635,3255;ESP6500_AA_GTC=72,491,1382;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=61;ESP6500_EA_AC=2048,5940;ESP6500_EA_GTC=283,1482,2229;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:intron;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1968585;ESP6500_GTC=355,1973,3611;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.1245+49del1;ESP6500_MAF=25.6385,16.3239,22.588;ESP6500_TAC=2683,9195	GT:AD:DP:GQ:PL	1/1:0,17:17:51:687,51,0
chr1	1968667	rs145742571;rs61233860;rs72634902;~rs61233860	T	TCTC	1920.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=1.666;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61233860,rs145742571;dbSNPBuildID=134,129;ANN=TCTC|conservative_inframe_insertion|MODERATE|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|11/39|c.1212_1213insGAG|p.Lys404_Lys405insGlu|1368/5412|1212/4920|404/1639||;p3_1000G_AC=997;p3_1000G_AF=0.199081;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=21168;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.2376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1900106;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=643,3311;ESP6500_AA_GTC=79,485,1413;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=188;ESP6500_EA_AC=1999,6033;ESP6500_EA_GTC=265,1469,2282;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:coding;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1968667;ESP6500_GTC=344,1954,3695;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.1212_1213insGAG;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(K404_K405insE);ESP6500_MAF=24.8879,16.262,22.0424;ESP6500_TAC=2642,9344	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1958,132,0
chr1	1968793	rs16824588	T	C	698.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.248;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.023;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.691;SOR=0.504;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16824588;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|11/39|c.1087A>G|p.Ile363Val|1243/5412|1087/4920|363/1639||;p3_1000G_AA=c|||;p3_1000G_AC=1942;p3_1000G_AF=0.38778;p3_1000G_AFR_AF=0.4312;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=17266;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.4314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1900232;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1668,2396;ESP6500_AA_GTC=365,938,729;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=134;ESP6500_EA_AC=3733,4615;ESP6500_EA_GTC=843,2047,1284;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080484.1:missense;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1968793;ESP6500_GS=29;ESP6500_GTC=1208,2985,2013;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.1087A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(I363V);ESP6500_MAF=44.7173,41.0433,43.5143;ESP6500_PH=benign:0.001;ESP6500_TAC=5401,7011	GT:AD:DP:GQ:PL	0/1:28,29:57:99:727,0,708
chr1	1968869	rs114206046	T	C	1174.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs114206046;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|10/38|c.1047-36A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=158;p3_1000G_AF=0.0315495;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=13392;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1900308;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=137,3855;ESP6500_AA_GTC=2,133,1861;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=51;ESP6500_EA_AC=1,8309;ESP6500_EA_GTC=0,1,4154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:intron;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1968869;ESP6500_GTC=2,134,6015;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.1047-36A>G;ESP6500_MAF=0.012,3.4319,1.1218;ESP6500_TAC=138,12164	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:84:1|1:1968869_T_C:1203,84,0
chr1	1968893	rs55709963	A	G	908.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55709963;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|10/38|c.1047-60T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=874;p3_1000G_AF=0.174521;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=12322;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1900332;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:63:1|1:1968869_T_C:937,63,0
chr1	1968900	rs56126097	A	G	781.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56126097;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|10/38|c.1047-67T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=904;p3_1000G_AF=0.180511;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=11827;p3_1000G_EAS_AF=0.2718;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1900339;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1247;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:1968869_T_C:810,54,0
chr1	1970872	rs77152626	C	T	817.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs77152626;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|9/38|c.889-56G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=177;p3_1000G_AF=0.0353435;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=26758;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1902311;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:846,75,0
chr1	1970901	rs77915279	G	T	826.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.13;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs77915279;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|9/38|c.889-85C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=128;p3_1000G_AF=0.0255591;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=28010;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1902340;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:60:1|1:1970901_G_T:855,60,0
chr1	1970917	rs76235226	G	C	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76235226;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|9/38|c.889-101C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=178;p3_1000G_AF=0.0355431;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=28480;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1902356;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:1970901_G_T:630,42,0
chr1	1971927	rs117657686	C	T	1456.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs117657686;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|9/38|c.888+53G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=116;p3_1000G_AF=0.0231629;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=15258;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1903366;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,33:33:99:1|1:1971927_C_T:1485,99,0
chr1	1971934	rs117921686	C	T	1652.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.21;SOR=2.133;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs117921686;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|9/38|c.888+46G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=15335;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1903373;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA_AC=8,3828;ESP6500_AA_GTC=0,8,1910;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=21;ESP6500_EA_AC=1,8219;ESP6500_EA_GTC=0,1,4109;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:intron;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1971934;ESP6500_GTC=0,9,6019;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.888+46G>A;ESP6500_MAF=0.0122,0.2086,0.0747;ESP6500_TAC=9,12047	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,39:39:99:1|1:1971927_C_T:1681,117,0
chr1	1973956	rs145571224	G	T	204.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs145571224;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|7/38|c.674+69C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=14020;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1905395;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:233,21,0
chr1	1973967	rs111242673	C	T	298.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs111242673;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|7/38|c.674+58G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=121;p3_1000G_AF=0.0241613;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=13797;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1905406;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:327,27,0
chr1	1974126	rs77196972	C	T	865.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs77196972;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|7/39|c.573G>A|p.Val191Val|729/5412|573/4920|191/1639||;p3_1000G_AA=C|||;p3_1000G_AC=120;p3_1000G_AF=0.0239617;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=14968;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1905565;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=36,4214;ESP6500_AA_GTC=0,36,2089;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=40;ESP6500_EA_AC=1,8481;ESP6500_EA_GTC=0,1,4240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:coding-synonymous;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1974126;ESP6500_GTC=0,37,6329;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.573G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(V191);ESP6500_MAF=0.0118,0.8471,0.2906;ESP6500_TAC=37,12695	GT:AD:DP:GQ:PL	1/1:0,30:30:90:894,90,0
chr1	1985451	rs3795280	C	T	723.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.81;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795280;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|6/39|c.435G>A|p.Leu145Leu|591/5412|435/4920|145/1639||;p3_1000G_AA=c|||;p3_1000G_AC=2196;p3_1000G_AF=0.438498;p3_1000G_AFR_AF=0.6573;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=18797;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.3082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1916890;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2382,1730;ESP6500_AA_GTC=693,996,367;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=2.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=71;ESP6500_EA_AC=2744,5634;ESP6500_EA_GTC=450,1844,1895;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:coding-synonymous;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1985451;ESP6500_GTC=1143,2840,2262;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.435G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080484.1:p.(L145);ESP6500_MAF=32.7524,42.072,41.0408;ESP6500_TAC=5126,7364	GT:AD:DP:GQ:PL	1/1:0,27:27:80:752,80,0
chr1	1985520	rs74594142	G	A	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs74594142;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|5/38|c.396-30C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=6581;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1916959;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=9,3997;ESP6500_AA_GTC=0,9,1994;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=26;ESP6500_EA_AC=1,8313;ESP6500_EA_GTC=0,1,4156;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:intron;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1985520;ESP6500_GTC=0,10,6150;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.396-30C>T;ESP6500_MAF=0.012,0.2247,0.0812;ESP6500_TAC=10,12310	GT:AD:DP:GQ:PL	1/1:0,13:13:39:465,39,0
chr1	1987049	rs4350140	A	G	1055.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.18;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4350140;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|4/38|c.297-14T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3158;p3_1000G_AF=0.630591;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=18645;p3_1000G_EAS_AF=0.5278;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1918488;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3587,503;ESP6500_AA_GTC=1583,421,41;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=43;ESP6500_EA_AC=4405,3985;ESP6500_EA_GTC=1151,2103,941;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:intron;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1987049;ESP6500_GTC=2734,2524,982;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.297-14T>C;ESP6500_MAF=47.497,12.2983,35.9615;ESP6500_TAC=7992,4488	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1084,90,0
chr1	1987145	rs4603072	C	T	408.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4603072;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|4/38|c.297-110G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1620;p3_1000G_AF=0.323482;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=17287;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1918584;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:437,33,0
chr1	1988995	rs144487103	TA	T	27.74	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.375;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=0.392;SOR=0.663;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs144487103;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|2/38|c.68-23delT||||||	GT:AD:DP:GQ:PL	0/1:17,5:22:65:65,0,373
chr1	1990736	rs78887406	A	G	99.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78887406;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|2/38|c.67+154T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14908;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1922175;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:127,9,0
chr1	1990864	rs13303195	C	T	455.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13303195;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|CFAP74|CFAP74|transcript|NM_001304360.1|protein_coding|2/38|c.67+26G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3253;p3_1000G_AF=0.649561;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=16177;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1922303;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3235,517;ESP6500_AA_GTC=1398,439,39;ESP6500_CDS_SIZES=NM_001080484.1:2289;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=40;ESP6500_EA_AC=4461,3767;ESP6500_EA_GTC=1208,2045,861;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080484.1:intron;ESP6500_GL=KIAA1751;ESP6500_GRCh38_POSITION=1:1990864;ESP6500_GTC=2606,2484,900;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080484.1:c.67+26G>A;ESP6500_MAF=45.7827,13.7793,35.7596;ESP6500_TAC=7696,4284	GT:AD:DP:GQ:PL	1/1:0,16:16:48:484,48,0
chr1	2024923	rs2376805;256824	G	A	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.495;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.54;ReadPosRankSum=0.552;SOR=0.728;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2376805;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|GABRD|GABRD|transcript|NM_000815.4|protein_coding|1/8|c.69-19G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=18400;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.828;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1956362;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3498,908;ESP6500_AA_AGE=347.2+/-309.4;ESP6500_AA_GTC=1384,730,89;ESP6500_CDS_SIZES=NM_000815.4:1359;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=7163,1437;ESP6500_EA_AGE=273.9+/-290.9;ESP6500_EA_GTC=2984,1195,121;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000815.4:intron;ESP6500_GL=GABRD;ESP6500_GRCh38_POSITION=1:2024923;ESP6500_GTC=4368,1925,210;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000815.4:c.69-19G>A;ESP6500_MAF=16.7093,20.6083,18.0301;ESP6500_TAC=10661,2345;CLINVAR_ALLELEID=249668;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.2024923G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GABRD:2563;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2376805	GT:AD:DP:GQ:PL	0/1:23,12:35:99:257,0,654
chr1	2029235	rs28408173;256825	C	T	1118.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28408173;dbSNPBuildID=125;ANN=T|synonymous_variant|LOW|GABRD|GABRD|transcript|NM_000815.4|protein_coding|7/9|c.816C>T|p.Ser272Ser|911/1925|816/1359|272/452||;p3_1000G_AA=C|||;p3_1000G_AC=993;p3_1000G_AF=0.198283;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=17568;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.1143;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1960674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=141,4239;ESP6500_AA_GTC=5,131,2054;ESP6500_CDS_SIZES=NM_000815.4:1359;ESP6500_CG=-3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=47;ESP6500_EA_AC=1123,7427;ESP6500_EA_GTC=78,967,3230;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000815.4:coding-synonymous;ESP6500_GL=GABRD;ESP6500_GRCh38_POSITION=1:2029235;ESP6500_GTC=83,1098,5284;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000815.4:c.816C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000815.4:p.(S272);ESP6500_MAF=13.1345,3.2192,9.7757;ESP6500_TAC=1264,11666;CLINVAR_AF_ESP=0.0978;CLINVAR_AF_EXAC=0.28733;CLINVAR_AF_TGP=0.1983;CLINVAR_ALLELEID=249670;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.2029235C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GABRD:2563;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28408173	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1147,111,0
chr1	2029487	rs28581504	T	C	885.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28581504;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|GABRD|GABRD|transcript|NM_000815.4|protein_coding|7/8|c.848-64T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4123;p3_1000G_AF=0.823283;p3_1000G_AFR_AF=0.8707;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=14053;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.828;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1960926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:914,72,0
chr1	2029969	rs28431879;256822	C	T	2355.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28431879;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|GABRD|GABRD|transcript|NM_000815.4|protein_coding|8/8|c.1060-14C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1001;p3_1000G_AF=0.19988;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=17180;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1961408;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=141,4221;ESP6500_AA_GTC=5,131,2045;ESP6500_CDS_SIZES=NM_000815.4:1359;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=43;ESP6500_EA_AC=1101,7445;ESP6500_EA_GTC=72,957,3244;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000815.4:intron;ESP6500_GL=GABRD;ESP6500_GRCh38_POSITION=1:2029969;ESP6500_GTC=77,1088,5289;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000815.4:c.1060-14C>T;ESP6500_MAF=12.8832,3.2325,9.6219;ESP6500_TAC=1242,11666;CLINVAR_AF_ESP=0.0962;CLINVAR_AF_EXAC=0.18343;CLINVAR_AF_TGP=0.1999;CLINVAR_ALLELEID=249671;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.2029969C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GABRD:2563;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28431879	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2384,239,0
chr1	2056554	rs12184	T	C	284.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.89;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12184;dbSNPBuildID=105;ANN=C|synonymous_variant|LOW|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|3/18|c.264T>C|p.Asp88Asp|425/2326|264/1779|88/592||;p3_1000G_AA=C|||;p3_1000G_AC=3355;p3_1000G_AF=0.669928;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=14345;p3_1000G_EAS_AF=0.9454;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1987993;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3609,797;ESP6500_AA_AGE=317.4+/-295.1;ESP6500_AA_GTC=1478,653,72;ESP6500_CDS_SIZES=NM_002744.4:1779;ESP6500_CG=-3.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=68;ESP6500_EA_AC=2955,5645;ESP6500_EA_AGE=667.1+/-402.4;ESP6500_EA_GTC=516,1923,1861;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002744.4:coding-synonymous;ESP6500_GL=PRKCZ;ESP6500_GRCh38_POSITION=1:2056554;ESP6500_GTC=1994,2576,1933;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002744.4:c.264T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002744.4:p.(D88);ESP6500_MAF=34.3605,18.089,49.531;ESP6500_TAC=6564,6442	GT:AD:DP:GQ:PL	1/1:0,11:11:33:313,33,0
chr1	2059575	rs1878745	A	G	882.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0.88;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.888;SOR=0.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1878745;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|4/18|c.318A>G|p.Pro106Pro|479/2326|318/1779|106/592||;p3_1000G_AA=G|||;p3_1000G_AC=1190;p3_1000G_AF=0.23762;p3_1000G_AFR_AF=0.0719;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=18261;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1991014;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=404,4002;ESP6500_AA_AGE=789.1+/-415.0;ESP6500_AA_GTC=14,376,1813;ESP6500_CDS_SIZES=NM_002744.4:1779;ESP6500_CG=-8.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=82;ESP6500_EA_AC=1587,7013;ESP6500_EA_AGE=743.6+/-407.2;ESP6500_EA_GTC=155,1277,2868;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002744.4:coding-synonymous;ESP6500_GL=PRKCZ;ESP6500_GRCh38_POSITION=1:2059575;ESP6500_GTC=169,1653,4681;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002744.4:c.318A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002744.4:p.(P106);ESP6500_MAF=18.4535,9.1693,15.3083;ESP6500_TAC=1991,11015	GT:AD:DP:GQ:PL	0/1:42,33:75:99:911,0,1124
chr1	2059684	rs1878746	G	A	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.462;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=10.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.86;SOR=2.395;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1878746;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|4/17|c.334+93G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=909;p3_1000G_AF=0.18151;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=18696;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1991123;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,19:46:99:554,0,785
chr1	2059723	rs1878747	G	A	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.38;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.721;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1878747;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|4/17|c.334+132G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2132;p3_1000G_AF=0.425719;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=17963;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1991162;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,16:31:99:505,0,489
chr1	2074301	rs2459986	T	C	586.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.45;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2459986;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|4/17|c.334+14710T>C||||||,C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding|1/14|c.-216+372T>C||||||,C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding|1/14|c.22+26T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4670;p3_1000G_AF=0.932508;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=12011;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2005740;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:69:615,69,0
chr1	2074366	rs28694018	C	G	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.605;SOR=0.074;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28694018;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|4/17|c.334+14775C>G||||||,G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding|1/14|c.-216+437C>G||||||,G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding|1/14|c.22+91C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=696;p3_1000G_AF=0.138978;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=12546;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2005805;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:178,0,181
chr1	2144121	rs427811	T	G	475.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.4;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=-0.609;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs427811;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|5/17|c.421-89T>G||||||,G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding|2/14|c.-129-89T>G||||||,G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding|2/14|c.109-89T>G||||||,G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033582.1|protein_coding|2/14|c.-129-89T>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=1130;p3_1000G_AF=0.225639;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=15399;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2075560;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,13:27:99:0|1:2144121_T_G:504,0,851
chr1	2144131	rs377283	T	C	508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.68;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=2.235;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=-0.803;SOR=1.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs377283;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|5/17|c.421-79T>C||||||,C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding|2/14|c.-129-79T>C||||||,C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding|2/14|c.109-79T>C||||||,C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033582.1|protein_coding|2/14|c.-129-79T>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=1616;p3_1000G_AF=0.322684;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=15237;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.3887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2075570;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,14:29:99:0|1:2144121_T_G:537,0,870
chr1	2145970	rs385039	A	G	791.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.94;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=7.95;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-1.309;SOR=1.586;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs385039;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|6/17|c.553-57A>G||||||,G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding|3/14|c.4-57A>G||||||,G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding|3/14|c.241-57A>G||||||,G|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033582.1|protein_coding|3/14|c.4-57A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1129;p3_1000G_AF=0.225439;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=21245;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2077409;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=153,1231;ESP6500_AA_GTC=7,139,546;ESP6500_CDS_SIZES=NM_002744.4:1779,NM_001242874.1:1467,NM_001033582.1:1230,NM_001033581.1:1230;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=37;ESP6500_EA_AC=866,2316;ESP6500_EA_GTC=118,630,843;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002744.4:intron,NM_001242874.1:intron,NM_001033582.1:intron,NM_001033581.1:intron;ESP6500_GL=PRKCZ;ESP6500_GRCh38_POSITION=1:2145970;ESP6500_GTC=125,769,1389;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002744.4:c.553-57A>G,NM_001242874.1:c.241-57A>G,NM_001033582.1:c.4-57A>G,NM_001033581.1:c.4-57A>G;ESP6500_MAF=27.2156,11.0549,22.3171;ESP6500_TAC=1019,3547	GT:AD:DP:GQ:PL	0/1:51,32:83:99:820,0,1322
chr1	2151019	rs262670	C	T	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.447;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.54;ReadPosRankSum=-0.676;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs262670;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|9/17|c.876+41C>T||||||,T|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding|6/14|c.327+41C>T||||||,T|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding|6/14|c.564+41C>T||||||,T|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033582.1|protein_coding|6/14|c.327+41C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1129;p3_1000G_AF=0.225439;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=18341;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2082458;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=503,3897;ESP6500_AA_AGE=216.8+/-235.3;ESP6500_AA_GTC=33,437,1730;ESP6500_CDS_SIZES=NM_002744.4:1779,NM_001242874.1:1467,NM_001033582.1:1230,NM_001033581.1:1230;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=22;ESP6500_EA_AC=2349,6247;ESP6500_EA_AGE=368.7+/-335.2;ESP6500_EA_GTC=329,1691,2278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002744.4:intron,NM_001242874.1:intron,NM_001033582.1:intron,NM_001033581.1:intron;ESP6500_GL=PRKCZ;ESP6500_GRCh38_POSITION=1:2151019;ESP6500_GTC=362,2128,4008;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002744.4:c.876+41C>T,NM_001242874.1:c.564+41C>T,NM_001033582.1:c.327+41C>T,NM_001033581.1:c.327+41C>T;ESP6500_MAF=27.3267,11.4318,21.9452;ESP6500_TAC=2852,10144	GT:AD:DP:GQ:PL	0/1:12,8:20:99:159,0,307
chr1	2172067	rs2280272	C	G	990.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.602;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=2.005;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.185;SOR=0.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280272;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|12/18|c.1074C>G|p.Ala358Ala|1235/2326|1074/1779|358/592||,G|synonymous_variant|LOW|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding|9/15|c.525C>G|p.Ala175Ala|1023/2114|525/1230|175/409||,G|synonymous_variant|LOW|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding|9/15|c.762C>G|p.Ala254Ala|1030/2121|762/1467|254/488||,G|synonymous_variant|LOW|PRKCZ|PRKCZ|transcript|NM_001033582.1|protein_coding|9/15|c.525C>G|p.Ala175Ala|920/2011|525/1230|175/409||;p3_1000G_AA=C|||;p3_1000G_AC=81;p3_1000G_AF=0.0161741;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17537;p3_1000G_EAS_AF=0.0744;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2103506;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,6,2197;ESP6500_CDS_SIZES=NM_002744.4:1779,NM_001242874.1:1467,NM_001033582.1:1230,NM_001033581.1:1230;ESP6500_CG=-5.3;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002744.4:coding-synonymous,NM_001242874.1:coding-synonymous,NM_001033582.1:coding-synonymous,NM_001033581.1:coding-synonymous;ESP6500_GL=PRKCZ;ESP6500_GRCh38_POSITION=1:2172067;ESP6500_GTC=0,9,6494;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002744.4:c.1074C>G,NM_001242874.1:c.762C>G,NM_001033582.1:c.525C>G,NM_001033581.1:c.525C>G;ESP6500_HGVS_PROTEIN_VAR=NM_002744.4:p.(A358),NM_001242874.1:p.(A254),NM_001033582.1:p.(A175),NM_001033581.1:p.(A175);ESP6500_MAF=0.0349,0.1362,0.0692;ESP6500_TAC=9,12997	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1019,0,994
chr1	2175401	rs12135175	T	C	188.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12135175;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding|16/17|c.1575+88T>C||||||,C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding|13/14|c.1026+88T>C||||||,C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding|13/14|c.1263+88T>C||||||,C|intron_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033582.1|protein_coding|13/14|c.1026+88T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=3645;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2106840;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:217,18,0
chr1	2187100	rs2503699	T	C	1331.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2503699;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282671.1|protein_coding|6/8|c.-301A>G|||||889|,C|5_prime_UTR_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282672.1|protein_coding|5/7|c.-301A>G|||||889|,C|downstream_gene_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding||c.*2091T>C|||||1705|,C|downstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282670.1|protein_coding||c.*2609A>G|||||2449|,C|downstream_gene_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding||c.*2091T>C|||||1705|,C|downstream_gene_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding||c.*2091T>C|||||1705|,C|downstream_gene_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033582.1|protein_coding||c.*2091T>C|||||1705|,C|downstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256947.1|protein_coding||c.*2677A>G|||||2449|,C|downstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_182533.2|protein_coding||c.*2609A>G|||||2449|,C|downstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NR_046427.1|pseudogene||n.*2449A>G|||||2449|,C|downstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256946.1|protein_coding||c.*5758A>G|||||4795|,C|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256945.1|protein_coding|2/2|c.335-1587A>G||||||,C|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282673.1|protein_coding|3/3|c.471-1587A>G||||||,C|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001146310.1|protein_coding|7/7|c.458-1587A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4293;p3_1000G_AF=0.857228;p3_1000G_AFR_AF=0.9554;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=11781;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2118539;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.864;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1270,114;ESP6500_AA_GTC=586,98,8;ESP6500_CDS_SIZES=NM_001256945.1:570,NM_001146310.1:693;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=21;ESP6500_EA_AC=2152,1030;ESP6500_EA_GTC=724,704,163;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001256945.1:intron,NM_001146310.1:intron;ESP6500_GL=C1orf86;ESP6500_GRCh38_POSITION=1:2187100;ESP6500_GTC=1310,802,171;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001256945.1:c.335-1587A>G,NM_001146310.1:c.458-1587A>G;ESP6500_MAF=32.3696,8.237,25.0548;ESP6500_TAC=3422,1144	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1360,120,0
chr1	2189679	rs2503701	C	T	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.793;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.63;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2503701;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282670.1|protein_coding|8/8|c.*30G>A|||||30|,T|3_prime_UTR_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256947.1|protein_coding|3/3|c.*98G>A|||||98|,T|3_prime_UTR_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_182533.2|protein_coding|4/4|c.*30G>A|||||30|,T|downstream_gene_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_002744.4|protein_coding||c.*4670C>T|||||4284|,T|downstream_gene_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033581.1|protein_coding||c.*4670C>T|||||4284|,T|downstream_gene_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001242874.1|protein_coding||c.*4670C>T|||||4284|,T|downstream_gene_variant|MODIFIER|PRKCZ|PRKCZ|transcript|NM_001033582.1|protein_coding||c.*4670C>T|||||4284|,T|downstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256946.1|protein_coding||c.*3179G>A|||||2216|,T|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256945.1|protein_coding|2/2|c.334+3960G>A||||||,T|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282671.1|protein_coding|5/7|c.-408+34G>A||||||,T|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282672.1|protein_coding|4/6|c.-408+34G>A||||||,T|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282673.1|protein_coding|3/3|c.470+3960G>A||||||,T|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001146310.1|protein_coding|7/7|c.457+3960G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|FAAP20|FAAP20|transcript|NR_046427.1|pseudogene|4/4|n.792G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3516;p3_1000G_AF=0.702077;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=9620;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.6083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2121118;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2556,1846;ESP6500_AA_AGE=609.1+/-391.3;ESP6500_AA_GTC=740,1076,385;ESP6500_CDS_SIZES=NM_182533.2:543,NM_001256947.1:339,NM_001256945.1:570,NM_001146310.1:693;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=5217,3377;ESP6500_EA_AGE=616.8+/-396.6;ESP6500_EA_GTC=1587,2043,667;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182533.2:utr-3,NM_001256947.1:utr-3,NM_001256945.1:intron,NM_001146310.1:intron;ESP6500_GL=C1orf86;ESP6500_GRCh38_POSITION=1:2189679;ESP6500_GTC=2327,3119,1052;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182533.2:c.*30G>A,NM_001256947.1:c.*98G>A,NM_001256945.1:c.334+3960G>A,NM_001146310.1:c.457+3960G>A;ESP6500_MAF=39.2949,41.9355,40.1893;ESP6500_TAC=7773,5223	GT:AD:DP:GQ:PL	0/1:24,14:38:99:291,0,675
chr1	2194700	rs6662296	C	G	71.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6662296;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|FAAP20|FAAP20|transcript|NM_001256945.1|protein_coding|1/3|c.50G>C|p.Arg17Pro|76/1414|50/570|17/189||,G|missense_variant|MODERATE|FAAP20|FAAP20|transcript|NM_001282673.1|protein_coding|1/4|c.50G>C|p.Arg17Pro|76/1550|50/513|17/170||,G|missense_variant|MODERATE|FAAP20|FAAP20|transcript|NM_001256947.1|protein_coding|1/3|c.50G>C|p.Arg17Pro|76/593|50/339|17/112||,G|missense_variant|MODERATE|FAAP20|FAAP20|transcript|NM_182533.2|protein_coding|1/4|c.50G>C|p.Arg17Pro|76/729|50/543|17/180||,G|missense_variant|MODERATE|FAAP20|FAAP20|transcript|NM_001256946.1|protein_coding|1/4|c.50G>C|p.Arg17Pro|76/1577|50/588|17/195||,G|5_prime_UTR_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282671.1|protein_coding|1/8|c.-1028G>C|||||8489|,G|5_prime_UTR_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282672.1|protein_coding|1/7|c.-897G>C|||||8489|,G|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282670.1|protein_coding|5/7|c.372-567G>C||||||,G|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001146310.1|protein_coding|6/7|c.186-790G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|FAAP20|FAAP20|transcript|NR_046427.1|pseudogene|1/4|n.76G>C||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0
chr1	2198823	rs144802031	C	G	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.356;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=1.02;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144802031;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|FAAP20|FAAP20|transcript|NM_001282670.1|protein_coding|4/8|c.166G>C|p.Gly56Arg|2729/3575|166/852|56/283||,G|upstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256945.1|protein_coding||c.-4074G>C|||||4048|,G|upstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282671.1|protein_coding||c.-12612G>C|||||4048|,G|upstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282672.1|protein_coding||c.-12612G>C|||||4048|,G|upstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001282673.1|protein_coding||c.-4074G>C|||||4048|,G|upstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256947.1|protein_coding||c.-4074G>C|||||4048|,G|upstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_182533.2|protein_coding||c.-4074G>C|||||4048|,G|upstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NR_046427.1|pseudogene||n.-4048G>C|||||4048|,G|upstream_gene_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001256946.1|protein_coding||c.-4074G>C|||||4048|,G|intron_variant|MODIFIER|FAAP20|FAAP20|transcript|NM_001146310.1|protein_coding|5/7|c.50-681G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=84;p3_1000G_AF=0.0167732;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=20020;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2130262;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,15:36:99:320,0,631
chr1	2303193	rs2279702	G	A	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.501;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.351;SOR=0.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2279702;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SKI|SKI|transcript|NM_003036.3|protein_coding|2/6|c.1095+90G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=565;p3_1000G_AF=0.112819;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=14502;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.1899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2234632;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,13:31:99:307,0,521
chr1	2304217	rs11577387	G	A	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.608;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.111;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11577387;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SKI|SKI|transcript|NM_003036.3|protein_coding|4/6|c.1475-76G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=493;p3_1000G_AF=0.0984425;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=14133;p3_1000G_EAS_AF=0.1062;p3_1000G_EUR_AF=0.165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2235656;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1247;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,10:25:99:0|1:2304217_G_A:216,0,476
chr1	2355508	rs1039100	A	G	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1039100;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|LOC100129534|LOC100129534|transcript|NR_024489.1|pseudogene||n.-2847T>C|||||2847|,G|intron_variant|MODIFIER|MORN1|MORN1|transcript|NM_024848.2|protein_coding|10/13|c.1036+1924T>C||||||,G|intron_variant|MODIFIER|MORN1|MORN1|transcript|NM_001301060.1|protein_coding|10/10|c.1037-44T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4422;p3_1000G_AF=0.882987;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DP=15010;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.7734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2286947;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1035,99,0
chr1	2384876	rs2843126	A	G	348.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2843126;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MORN1|MORN1|transcript|NM_024848.2|protein_coding|6/13|c.537+102T>C||||||,G|intron_variant|MODIFIER|MORN1|MORN1|transcript|NM_001301060.1|protein_coding|6/10|c.537+102T>C||||||,G|intron_variant|MODIFIER|MORN1|MORN1|transcript|NR_125361.1|pseudogene|5/6|n.683+102T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2727;p3_1000G_AF=0.544529;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=15692;p3_1000G_EAS_AF=0.747;p3_1000G_EUR_AF=0.5199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2316315;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:377,33,0
chr1	2397275	rs2645081	A	G	1164.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.545;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2645081;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RER1|RER1|transcript|NM_007033.4|protein_coding|3/6|c.186+55A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4036;p3_1000G_AF=0.805911;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=21716;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.8946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2328714;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1193,96,0
chr1	2400952	rs12037485	C	T	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.589;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.91;ReadPosRankSum=-0.484;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12037485;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|PEX10|PEX10|transcript|NM_153818.1|protein_coding||c.*4814G>A|||||3850|,T|downstream_gene_variant|MODIFIER|PEX10|PEX10|transcript|NM_002617.3|protein_coding||c.*4814G>A|||||3850|,T|intron_variant|MODIFIER|RER1|RER1|transcript|NM_007033.4|protein_coding|5/6|c.365+17C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1704;p3_1000G_AF=0.340256;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=15585;p3_1000G_EAS_AF=0.255;p3_1000G_EUR_AF=0.4483;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2332391;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1030,2734;ESP6500_AA_GTC=164,702,1016;ESP6500_CDS_SIZES=NM_007033.4:591;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=68;ESP6500_EA_AC=3697,4521;ESP6500_EA_GTC=845,2007,1257;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007033.4:intron;ESP6500_GL=RER1;ESP6500_GRCh38_POSITION=1:2400952;ESP6500_GTC=1009,2709,2273;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007033.4:c.365+17C>T;ESP6500_MAF=44.9866,27.3645,39.4508;ESP6500_TAC=4727,7255	GT:AD:DP:GQ:PL	0/1:16,10:26:99:234,0,458
chr1	2406687	rs3795269	C	A	1098.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.099;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=4.805;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.308;SOR=1.4;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795269;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|RER1|RER1|transcript|NM_007033.4|protein_coding||c.*3563C>A|||||1241|,A|intron_variant|MODIFIER|PEX10|PEX10|transcript|NM_153818.1|protein_coding|4/5|c.836+33G>T||||||,A|intron_variant|MODIFIER|PEX10|PEX10|transcript|NM_002617.3|protein_coding|4/5|c.776+33G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=17338;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.4274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2338126;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1295,3107;ESP6500_AA_GTC=199,897,1105;ESP6500_CDS_SIZES=NM_153818.1:1041,NM_002617.3:981;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=20;ESP6500_EA_AC=3679,4921;ESP6500_EA_GTC=803,2073,1424;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153818.1:intron,NM_002617.3:intron;ESP6500_GL=PEX10;ESP6500_GRCh38_POSITION=1:2406687;ESP6500_GTC=1002,2970,2529;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_153818.1:c.836+33G>T,NM_002617.3:c.776+33G>T;ESP6500_MAF=42.7791,29.4184,38.2557;ESP6500_TAC=4974,8028	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1127,0,816
chr1	2408761	rs2494598;129884	T	C	1191.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2494598;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|PEX10|PEX10|transcript|NM_153818.1|protein_coding|3/6|c.291A>G|p.Thr97Thr|360/2074|291/1041|97/346||,C|synonymous_variant|LOW|PEX10|PEX10|transcript|NM_002617.3|protein_coding|3/6|c.291A>G|p.Thr97Thr|360/2014|291/981|97/326||,C|downstream_gene_variant|MODIFIER|RER1|RER1|transcript|NM_007033.4|protein_coding||c.*5637T>C|||||3315|;p3_1000G_AA=C|||;p3_1000G_AC=3500;p3_1000G_AF=0.698882;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=18318;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.7913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2340200;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2648,1758;ESP6500_AA_AGE=522.2+/-370.7;ESP6500_AA_GTC=800,1048,355;ESP6500_CDS_SIZES=NM_153818.1:1041,NM_002617.3:981;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=7026,1574;ESP6500_EA_AGE=293.4+/-301.3;ESP6500_EA_GTC=2866,1294,140;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153818.1:coding-synonymous,NM_002617.3:coding-synonymous;ESP6500_GL=PEX10;ESP6500_GRCh38_POSITION=1:2408761;ESP6500_GTC=3666,2342,495;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153818.1:c.291A>G,NM_002617.3:c.291A>G;ESP6500_HGVS_PROTEIN_VAR=NM_153818.1:p.(T97),NM_002617.3:p.(T97);ESP6500_MAF=18.3023,39.9001,25.6189;ESP6500_TAC=9674,3332;CLINVAR_ALLELEID=135330;CLINVAR_CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374;CLINVAR_CLNDN=Zellweger_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.2408761T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:57;CLINVAR_GENEINFO=PEX10:5192;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2494598	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1220,120,0
chr1	2430625	rs376174603;rs759322327	C	CGTGGGTGAGTGAGGCCCTGGCT	395.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.635;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.829;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.83;ReadPosRankSum=-0.286;SOR=0.976;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141749866;dbSNPBuildID=144,138;ANN=CGTGGGTGAGTGAGGCCCTGGCT|intergenic_region|MODIFIER|PEX10-PLCH2|PEX10-PLCH2|intergenic_region|PEX10-PLCH2|||n.2430625_2430626insGTGGGTGAGTGAGGCCCTGGCT||||||	GT:AD:DP:GQ:PL	0/1:9,10:19:99:433,0,472
chr1	2467680	rs2494632	A	G	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2494632;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|1/21|c.43+18A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3606;p3_1000G_AF=0.720048;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=11724;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2399119;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:2467680_A_G:630,42,0
chr1	2467710	rs2494631	A	G	626.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2494631;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|1/21|c.43+48A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3499;p3_1000G_AF=0.698682;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=11480;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2399149;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:2467680_A_G:655,45,0
chr1	2477796	rs12045425	G	A	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.366;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12045425;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|1/21|c.125-680G>A||||||,A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|1/21|c.44-680G>A||||||,A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|1/21|c.184+92G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=96;p3_1000G_AF=0.0191693;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15469;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2409235;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:75:101,0,75
chr1	2477837	rs12049628	A	G	146.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12049628;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|1/21|c.125-639A>G||||||,G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|1/21|c.44-639A>G||||||,G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|1/21|c.184+133A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3309;p3_1000G_AF=0.660743;p3_1000G_AFR_AF=0.5726;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=15288;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2409276;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:175,15,0
chr1	2478453	rs12727342	A	G	1027.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12727342;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|1/21|c.125-23A>G||||||,G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|1/21|c.44-23A>G||||||,G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|1/21|c.185-23A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3541;p3_1000G_AF=0.707069;p3_1000G_AFR_AF=0.7352;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=17658;p3_1000G_EAS_AF=0.7897;p3_1000G_EUR_AF=0.6292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2409892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3194,1198;ESP6500_AA_GTC=1183,828,185;ESP6500_CDS_SIZES=NM_014638.2:4251;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=42;ESP6500_EA_AC=5375,3201;ESP6500_EA_GTC=1707,1961,620;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014638.2:intron;ESP6500_GL=PLCH2;ESP6500_GRCh38_POSITION=1:2478453;ESP6500_GTC=2890,2789,805;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014638.2:c.125-23A>G;ESP6500_MAF=37.3251,27.2769,33.922;ESP6500_TAC=8569,4399	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:2478453_A_G:1056,105,0
chr1	2480012	rs10797428	A	G	1511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.36;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10797428;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|3/21|c.515+35A>G||||||,G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|3/21|c.434+35A>G||||||,G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|3/21|c.575+35A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3288;p3_1000G_AF=0.65655;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=16138;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.6203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2411451;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2418,1550;ESP6500_AA_GTC=784,850,350;ESP6500_CDS_SIZES=NM_014638.2:4251;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=20;ESP6500_EA_AC=5144,3070;ESP6500_EA_GTC=1681,1782,644;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014638.2:intron;ESP6500_GL=PLCH2;ESP6500_GRCh38_POSITION=1:2480012;ESP6500_GTC=2465,2632,994;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014638.2:c.514+36A>G;ESP6500_MAF=37.3752,39.0625,37.9248;ESP6500_TAC=7562,4620	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1540,132,0
chr1	2487404	rs376310203	G	A	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.142;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.707;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376310203;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|7/21|c.1114+28G>A||||||,A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|7/21|c.1033+28G>A||||||,A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|7/21|c.1174+28G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18627;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2418843;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4175;ESP6500_AA_GTC=0,1,2087;ESP6500_CDS_SIZES=NM_014638.2:4251;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=27;ESP6500_EA_AC=0,8396;ESP6500_EA_GTC=0,0,4198;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014638.2:intron;ESP6500_GL=PLCH2;ESP6500_GRCh38_POSITION=1:2487404;ESP6500_GTC=0,1,6285;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014638.2:c.1114+28G>A;ESP6500_MAF=0.0,0.0239,0.0080;ESP6500_TAC=1,12571	GT:AD:DP:GQ:PL	0/1:13,15:28:99:409,0,345
chr1	2487496	rs10910082	C	T	897.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10910082;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|7/21|c.1115-102C>T||||||,T|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|7/21|c.1034-102C>T||||||,T|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|7/21|c.1175-102C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3135;p3_1000G_AF=0.625998;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=17374;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2418935;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:926,72,0
chr1	2489151	rs10752744	T	C	667.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10752744;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|8/21|c.1236-56T>C||||||,C|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|8/21|c.1155-56T>C||||||,C|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|8/21|c.1296-56T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4351;p3_1000G_AF=0.86881;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=18332;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2420590;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:696,54,0
chr1	2489474	rs6668720	A	G	678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=5.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6668720;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|9/21|c.1407+96A>G||||||,G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|9/21|c.1326+96A>G||||||,G|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|9/21|c.1467+96A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3375;p3_1000G_AF=0.673922;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=16688;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.6521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2420913;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:707,51,0
chr1	2491175	rs2477699	G	A	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.253;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.943;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2477699;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|10/21|c.1516-17G>A||||||,A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|10/21|c.1435-17G>A||||||,A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|10/21|c.1576-17G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3766;p3_1000G_AF=0.751997;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=17959;p3_1000G_EAS_AF=0.9107;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2422614;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2860,1074;ESP6500_AA_GTC=1042,776,149;ESP6500_CDS_SIZES=NM_014638.2:4251;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=42;ESP6500_EA_AC=6001,2279;ESP6500_EA_GTC=2170,1661,309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014638.2:intron;ESP6500_GL=PLCH2;ESP6500_GRCh38_POSITION=1:2491175;ESP6500_GTC=3212,2437,458;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014638.2:c.1516-17G>A;ESP6500_MAF=27.5242,27.3005,27.4521;ESP6500_TAC=8861,3353	GT:AD:DP:GQ:PL	0/1:12,17:29:99:519,0,390
chr1	2494710	rs2182177	C	A	87.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2182177;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|11/21|c.1660-146C>A||||||,A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|11/21|c.1579-146C>A||||||,A|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|11/21|c.1720-146C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1900;p3_1000G_AF=0.379393;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=12684;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.1978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2426149;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:115,9,0
chr1	2497435	rs2477706	T	C	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.65;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2477706;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|15/21|c.2117-67T>C||||||,C|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|15/21|c.2036-67T>C||||||,C|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|15/21|c.2177-67T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4242;p3_1000G_AF=0.847045;p3_1000G_AFR_AF=0.9153;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=15709;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2428874;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,17:29:99:0|1:2497435_T_C:476,0,301
chr1	2499618	rs2477707	C	T	333.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.919;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.173;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2477707;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding|19/21|c.2582-23C>T||||||,T|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding|19/21|c.2501-23C>T||||||,T|intron_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding|19/21|c.2642-23C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1970;p3_1000G_AF=0.393371;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=18277;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2431057;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2040,2252;ESP6500_AA_GTC=494,1052,600;ESP6500_CDS_SIZES=NM_014638.2:4251;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=1695,6791;ESP6500_EA_GTC=170,1355,2718;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014638.2:intron;ESP6500_GL=PLCH2;ESP6500_GRCh38_POSITION=1:2499618;ESP6500_GTC=664,2407,3318;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014638.2:c.2582-23C>T;ESP6500_MAF=19.9741,47.5303,29.2299;ESP6500_TAC=3735,9043	GT:AD:DP:GQ:PL	0/1:13,15:28:99:362,0,320
chr1	2509919	rs2494620	T	C	443.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.743;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2494620;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|PANK4|PANK4|transcript|NM_018216.2|protein_coding|18/19|c.2075A>G|p.Gln692Arg|2092/2679|2075/2346|692/781||,C|downstream_gene_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding||c.*4706T>C|||||4389|,C|downstream_gene_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding||c.*6292T>C|||||4389|,C|downstream_gene_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding||c.*5934T>C|||||4389|;p3_1000G_AA=C|||;p3_1000G_AC=2313;p3_1000G_AF=0.461861;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=17094;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.2127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2441358;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2888,1508;ESP6500_AA_AGE=461.7+/-353.0;ESP6500_AA_GTC=962,964,272;ESP6500_CDS_SIZES=NM_018216.1:2322;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=1916,6676;ESP6500_EA_AGE=711.8+/-405.9;ESP6500_EA_GTC=210,1496,2590;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018216.1:missense;ESP6500_GL=PANK4;ESP6500_GRCh38_POSITION=1:2509919;ESP6500_GS=43;ESP6500_GTC=1172,2460,2862;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018216.1:c.2051A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018216.1:p.(Q684R);ESP6500_MAF=22.2998,34.3039,36.988;ESP6500_PH=benign:0.0;ESP6500_TAC=4804,8184	GT:AD:DP:GQ:PL	0/1:16,16:32:99:472,0,427
chr1	2509953	rs2494619	T	C	684.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.351;SOR=0.873;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2494619;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_014638.3|protein_coding||c.*4740T>C|||||4423|,C|downstream_gene_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303012.1|protein_coding||c.*6326T>C|||||4423|,C|downstream_gene_variant|MODIFIER|PLCH2|PLCH2|transcript|NM_001303013.1|protein_coding||c.*5968T>C|||||4423|,C|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|17/18|c.2064-23A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2314;p3_1000G_AF=0.462061;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=16507;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.2127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2441392;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2877,1517;ESP6500_AA_GTC=951,975,271;ESP6500_CDS_SIZES=NM_018216.1:2322;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=53;ESP6500_EA_AC=1908,6684;ESP6500_EA_GTC=209,1490,2597;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018216.1:intron;ESP6500_GL=PANK4;ESP6500_GRCh38_POSITION=1:2509953;ESP6500_GTC=1160,2465,2868;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018216.1:c.2040-23A>G;ESP6500_MAF=22.2067,34.5244,36.8474;ESP6500_TAC=4785,8201	GT:AD:DP:GQ:PL	0/1:24,24:48:99:713,0,604
chr1	2511514	rs2236397	C	A	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.035;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=0.803;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236397;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|14/18|c.1807+114G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1903;p3_1000G_AF=0.379992;p3_1000G_AFR_AF=0.5038;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=17168;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.1978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2442953;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,12:22:99:371,0,359
chr1	2511773	rs2236396	G	A	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.447;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.2;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236396;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|13/18|c.1752-90C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1937;p3_1000G_AF=0.386781;p3_1000G_AFR_AF=0.5038;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=19208;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2443212;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:163,0,143
chr1	2512787	rs744112	C	T	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.311;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=0.749;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs744112;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|13/18|c.1751+101G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2308;p3_1000G_AF=0.460863;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=13892;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.2117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2444226;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,13:18:99:406,0,110
chr1	2513967	rs2247308	A	G	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.111;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.185;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-0.094;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2247308;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|12/18|c.1599+35T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2318;p3_1000G_AF=0.462859;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=19013;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.2137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2445406;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2910,1496;ESP6500_AA_AGE=476.3+/-357.6;ESP6500_AA_GTC=969,972,262;ESP6500_CDS_SIZES=NM_018216.1:2322;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=156;ESP6500_EA_AC=1917,6679;ESP6500_EA_AGE=724.3+/-406.5;ESP6500_EA_GTC=209,1499,2590;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018216.1:intron;ESP6500_GL=PANK4;ESP6500_GRCh38_POSITION=1:2513967;ESP6500_GTC=1178,2471,2852;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018216.1:c.1575+35T>C;ESP6500_MAF=22.3011,33.9537,37.1251;ESP6500_TAC=4827,8175	GT:AD:DP:GQ:PL	0/1:26,18:44:99:409,0,672
chr1	2515441	rs2236395	A	G	1497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.83;SOR=1.312;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236395;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|10/18|c.1398+121T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2319;p3_1000G_AF=0.463059;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=17508;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.2117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2446880;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1526,129,0
chr1	2515521	rs2236394	T	C	909.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236394;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|10/18|c.1398+41A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2325;p3_1000G_AF=0.464257;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=15927;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.2117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2446960;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2899,1505;ESP6500_AA_AGE=452.6+/-350.1;ESP6500_AA_GTC=970,959,273;ESP6500_CDS_SIZES=NM_018216.1:2322;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=32;ESP6500_EA_AC=1919,6673;ESP6500_EA_AGE=705.8+/-405.5;ESP6500_EA_GTC=214,1491,2591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018216.1:intron;ESP6500_GL=PANK4;ESP6500_GRCh38_POSITION=1:2515521;ESP6500_GTC=1184,2450,2864;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018216.1:c.1374+41A>G;ESP6500_MAF=22.3347,34.1735,37.0729;ESP6500_TAC=4818,8178	GT:AD:DP:GQ:PL	1/1:0,30:30:90:938,90,0
chr1	2520918	rs2494636	G	A	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.209;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.048;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2494636;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|3/18|c.447-12C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2315;p3_1000G_AF=0.46226;p3_1000G_AFR_AF=0.7163;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=16297;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.2117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2452357;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2914,1492;ESP6500_AA_AGE=673.9+/-402.9;ESP6500_AA_GTC=971,972,260;ESP6500_CDS_SIZES=NM_018216.1:2322;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=1916,6680;ESP6500_EA_AGE=339.0+/-323.0;ESP6500_EA_GTC=209,1498,2591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018216.1:intron;ESP6500_GL=PANK4;ESP6500_GRCh38_POSITION=1:2520918;ESP6500_GTC=1180,2470,2851;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018216.1:c.423-12C>T;ESP6500_MAF=22.2894,33.8629,37.1481;ESP6500_TAC=4830,8172	GT:AD:DP:GQ:PL	0/1:21,18:39:99:449,0,632
chr1	2521005	rs4648643	A	G	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.93;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=9.379;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.867;SOR=3.407;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648643;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|PANK4|PANK4|transcript|NM_018216.2|protein_coding|3/18|c.446+96T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2128;p3_1000G_AF=0.42492;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=16553;p3_1000G_EAS_AF=0.4712;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2452444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,8:22:99:273,0,422
chr1	2521130	rs2985862	T	C	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=1.16;SOR=1.119;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2985862;dbSNPBuildID=101;ANN=C|synonymous_variant|LOW|PANK4|PANK4|transcript|NM_018216.2|protein_coding|3/19|c.417A>G|p.Lys139Lys|434/2679|417/2346|139/781||;p3_1000G_AA=C|||;p3_1000G_AC=4237;p3_1000G_AF=0.846046;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=17288;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7316;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2452569;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3960,446;ESP6500_AA_AGE=213.8+/-233.3;ESP6500_AA_GTC=1781,398,24;ESP6500_CDS_SIZES=NM_018216.1:2322;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=92;ESP6500_EA_AC=6383,2217;ESP6500_EA_AGE=376.0+/-338.0;ESP6500_EA_GTC=2354,1675,271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018216.1:coding-synonymous;ESP6500_GL=PANK4;ESP6500_GRCh38_POSITION=1:2521130;ESP6500_GTC=4135,2073,295;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018216.1:c.393A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018216.1:p.(K131);ESP6500_MAF=25.7791,10.1226,20.4752;ESP6500_TAC=10343,2663	GT:AD:DP:GQ:PL	0/1:19,8:27:99:213,0,552
chr1	2556714	rs4870;135349	A	G	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4870;dbSNPBuildID=52;ANN=G|missense_variant|MODERATE|TNFRSF14|TNFRSF14|transcript|NM_003820.3|protein_coding|1/8|c.50A>G|p.Lys17Arg|350/3501|50/852|17/283||,G|missense_variant|MODERATE|TNFRSF14|TNFRSF14|transcript|NM_001297605.1|protein_coding|1/7|c.50A>G|p.Lys17Arg|350/3358|50/555|17/184||,G|intron_variant|MODIFIER|LOC115110|LOC115110|transcript|NR_037844.2|pseudogene|1/6|n.36-18T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3079;p3_1000G_AF=0.614816;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=14854;p3_1000G_EAS_AF=0.5397;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2488153;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3193,1203;ESP6500_AA_GTC=1166,861,171;ESP6500_CDS_SIZES=NM_003820.2:852;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=45;ESP6500_EA_AC=4058,4540;ESP6500_EA_GTC=951,2156,1192;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003820.2:missense;ESP6500_GL=TNFRSF14;ESP6500_GRCh38_POSITION=1:2556714;ESP6500_GS=26;ESP6500_GTC=2117,3017,1363;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003820.2:c.50A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003820.2:p.(K17R);ESP6500_MAF=47.197,27.3658,44.1973;ESP6500_PH=possibly-damaging:0.61;ESP6500_TAC=7251,5743;CLINVAR_ALLELEID=139088;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.2556714A>G;CLINVAR_CLNREVSTAT=no_assertion_provided;CLINVAR_CLNSIG=not_provided;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q92956#VAR_013007;CLINVAR_GENEINFO=TNFRSF14:8764|TNFRSF14-AS1:115110;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4870	GT:AD:DP:GQ:PL	1/1:0,7:7:21:261,21,0
chr1	2559766	rs2234161;133414	C	T	907.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.46;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2234161;dbSNPBuildID=98;ANN=T|upstream_gene_variant|MODIFIER|LOC115110|LOC115110|transcript|NR_037844.2|pseudogene||n.-2755G>A|||||2755|,T|intron_variant|MODIFIER|TNFRSF14|TNFRSF14|transcript|NM_003820.3|protein_coding|3/7|c.305-57C>T||||||,T|intron_variant|MODIFIER|TNFRSF14|TNFRSF14|transcript|NM_001297605.1|protein_coding|3/6|c.305-57C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3225;p3_1000G_AF=0.64397;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=13762;p3_1000G_EAS_AF=0.5774;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2491205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP;CLINVAR_ALLELEID=137153;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.2559766C>T;CLINVAR_CLNREVSTAT=no_assertion_provided;CLINVAR_CLNSIG=not_provided;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TNFRSF14:8764;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2234161	GT:AD:DP:GQ:PL	1/1:0,29:29:87:936,87,0
chr1	2562891	rs2234167;135355	G	A	695.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.467;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=1.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0.505;SOR=1.018;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2234167;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|TNFRSF14|TNFRSF14|transcript|NM_003820.3|protein_coding|7/8|c.721G>A|p.Val241Ile|1021/3501|721/852|241/283||,A|3_prime_UTR_variant|MODIFIER|TNFRSF14|TNFRSF14|transcript|NM_001297605.1|protein_coding|6/7|c.*23G>A|||||23|,A|upstream_gene_variant|MODIFIER|LOC100996583|LOC100996583|transcript|NR_121638.1|pseudogene||n.-3644G>A|||||3644|;p3_1000G_AA=G|||;p3_1000G_AC=570;p3_1000G_AF=0.113818;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=12689;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.1471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2494330;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=391,4015;ESP6500_AA_AGE=196.7+/-221.0;ESP6500_AA_GTC=19,353,1831;ESP6500_CDS_SIZES=NM_003820.2:852;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=264;ESP6500_EA_AC=1213,7387;ESP6500_EA_AGE=244.3+/-273.6;ESP6500_EA_GTC=91,1031,3178;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003820.2:missense;ESP6500_GL=TNFRSF14;ESP6500_GRCh38_POSITION=1:2562891;ESP6500_GS=29;ESP6500_GTC=110,1384,5009;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003820.2:c.721G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003820.2:p.(V241I);ESP6500_MAF=14.1047,8.8743,12.3328;ESP6500_PH=benign:0.085;ESP6500_TAC=1604,11402;CLINVAR_AF_ESP=0.1233;CLINVAR_AF_EXAC=0.12953;CLINVAR_AF_TGP=0.1138;CLINVAR_ALLELEID=139094;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.2562891G>A;CLINVAR_CLNREVSTAT=no_assertion_provided;CLINVAR_CLNSIG=not_provided;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q92956#VAR_013440;CLINVAR_GENEINFO=TNFRSF14:8764;CLINVAR_MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2234167	GT:AD:DP:GQ:PL	0/1:48,35:83:99:724,0,1228
chr1	2563346	rs8725	G	A	445.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8725;dbSNPBuildID=52;ANN=A|3_prime_UTR_variant|MODIFIER|TNFRSF14|TNFRSF14|transcript|NM_003820.3|protein_coding|8/8|c.*73G>A|||||73|,A|3_prime_UTR_variant|MODIFIER|TNFRSF14|TNFRSF14|transcript|NM_001297605.1|protein_coding|7/7|c.*227G>A|||||478|,A|upstream_gene_variant|MODIFIER|LOC100996583|LOC100996583|transcript|NR_121638.1|pseudogene||n.-3189G>A|||||3189|;p3_1000G_AA=G|||;p3_1000G_AC=3165;p3_1000G_AF=0.631989;p3_1000G_AFR_AF=0.7776;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=15061;p3_1000G_EAS_AF=0.5734;p3_1000G_EUR_AF=0.493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2494785;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:474,42,0
chr1	2588863	rs6667564	T	C	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.226;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.87;ReadPosRankSum=0.377;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6667564;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|LOC100996583|LOC100996583|transcript|NR_121638.1|pseudogene||n.*4329T>C|||||4329|,C|downstream_gene_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding||c.*2127A>G|||||1779|,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195736.1|protein_coding|5/6|c.605-59T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036637.1|pseudogene|5/6|n.530-59T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036638.1|pseudogene|5/6|n.530-91T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195737.1|protein_coding|5/6|c.571-91T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195738.1|protein_coding|5/6|c.551-91T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195740.1|protein_coding|4/5|c.475-91T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195741.1|protein_coding|4/5|c.475-94T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_152371.3|protein_coding|5/6|c.551-59T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2808;p3_1000G_AF=0.560703;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=16051;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2520302;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,8:24:99:169,0,418
chr1	2589061	rs6701238	G	A	375.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.879;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=8.313;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.12;SOR=0.111;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6701238;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|LOC100996583|LOC100996583|transcript|NR_121638.1|pseudogene||n.*4527G>A|||||4527|,A|downstream_gene_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding||c.*1929C>T|||||1581|,A|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195736.1|protein_coding|6/6|c.723+21G>A||||||,A|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036637.1|pseudogene|6/6|n.648+21G>A||||||,A|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036638.1|pseudogene|6/6|n.616+21G>A||||||,A|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195737.1|protein_coding|6/6|c.657+21G>A||||||,A|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195738.1|protein_coding|6/6|c.637+21G>A||||||,A|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195740.1|protein_coding|5/5|c.561+21G>A||||||,A|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195741.1|protein_coding|5/5|c.558+21G>A||||||,A|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_152371.3|protein_coding|6/6|c.669+21G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2799;p3_1000G_AF=0.558906;p3_1000G_AFR_AF=0.7995;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=16551;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2520500;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3280,1124;ESP6500_AA_GTC=1220,840,142;ESP6500_CDS_SIZES=NM_152371.3:687,NM_001195741.1:576,NM_001195740.1:579,NM_001195738.1:642,NM_001195737.1:675,NM_001195736.1:741;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=26;ESP6500_EA_AC=2911,5683;ESP6500_EA_GTC=511,1889,1897;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152371.3:intron,NM_001195741.1:intron,NM_001195740.1:intron,NM_001195738.1:intron,NM_001195737.1:intron,NM_001195736.1:intron;ESP6500_GL=FAM213B;ESP6500_GRCh38_POSITION=1:2589061;ESP6500_GTC=1731,2729,2039;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152371.3:c.669+21G>A,NM_001195741.1:c.558+21G>A,NM_001195740.1:c.561+21G>A,NM_001195738.1:c.637+21G>A,NM_001195737.1:c.657+21G>A,NM_001195736.1:c.723+21G>A;ESP6500_MAF=33.8725,25.5223,47.6304;ESP6500_TAC=6191,6807	GT:AD:DP:GQ:PL	0/1:15,17:32:99:404,0,457
chr1	2589088	rs6670198	T	C	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.759;SOR=0.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6670198;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|LOC100996583|LOC100996583|transcript|NR_121638.1|pseudogene||n.*4554T>C|||||4554|,C|downstream_gene_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding||c.*1902A>G|||||1554|,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195736.1|protein_coding|6/6|c.723+48T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036637.1|pseudogene|6/6|n.648+48T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036638.1|pseudogene|6/6|n.616+48T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195737.1|protein_coding|6/6|c.657+48T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195738.1|protein_coding|6/6|c.637+48T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195740.1|protein_coding|5/5|c.561+48T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195741.1|protein_coding|5/5|c.558+48T>C||||||,C|intron_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_152371.3|protein_coding|6/6|c.669+48T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2801;p3_1000G_AF=0.559305;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=17056;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2520527;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3271,1129;ESP6500_AA_GTC=1223,825,152;ESP6500_CDS_SIZES=NM_152371.3:687,NM_001195741.1:576,NM_001195740.1:579,NM_001195738.1:642,NM_001195737.1:675,NM_001195736.1:741;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=17;ESP6500_EA_AC=2867,5717;ESP6500_EA_GTC=495,1877,1920;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152371.3:intron,NM_001195741.1:intron,NM_001195740.1:intron,NM_001195738.1:intron,NM_001195737.1:intron,NM_001195736.1:intron;ESP6500_GL=FAM213B;ESP6500_GRCh38_POSITION=1:2589088;ESP6500_GTC=1718,2702,2072;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152371.3:c.669+48T>C,NM_001195741.1:c.558+48T>C,NM_001195740.1:c.561+48T>C,NM_001195738.1:c.637+48T>C,NM_001195737.1:c.657+48T>C,NM_001195736.1:c.723+48T>C;ESP6500_MAF=33.3993,25.6591,47.2736;ESP6500_TAC=6138,6846	GT:AD:DP:GQ:PL	0/1:11,8:19:99:248,0,350
chr1	2592766	rs745368	C	T	1789.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.058;ClippingRankSum=0;DP=140;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.125;SOR=0.855;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs745368;dbSNPBuildID=86;ANN=T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195736.1|protein_coding||c.*3339C>T|||||1297|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036637.1|pseudogene||n.*1297C>T|||||1297|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036638.1|pseudogene||n.*1297C>T|||||1297|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195737.1|protein_coding||c.*3339C>T|||||1297|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195738.1|protein_coding||c.*3352C>T|||||1297|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195740.1|protein_coding||c.*3339C>T|||||1297|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195741.1|protein_coding||c.*3339C>T|||||1297|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_152371.3|protein_coding||c.*3339C>T|||||1297|,T|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|20/23|c.2002-46G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2491;p3_1000G_AF=0.497404;p3_1000G_AFR_AF=0.6142;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=11652;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.3101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2524205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5368;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2519,1881;ESP6500_AA_AGE=606.9+/-390.8;ESP6500_AA_GTC=725,1069,406;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=42;ESP6500_EA_AC=2727,5873;ESP6500_EA_AGE=420.8+/-353.5;ESP6500_EA_GTC=428,1871,2001;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:intron;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2592766;ESP6500_GTC=1153,2940,2407;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.2002-46G>A;ESP6500_MAF=31.7093,42.75,40.3538;ESP6500_TAC=5246,7754	GT:AD:DP:GQ:PL	0/1:66,72:138:99:1818,0,1583
chr1	2593018	rs745367	T	C	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.29;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.456;SOR=2.247;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs745367;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195736.1|protein_coding||c.*3591T>C|||||1549|,C|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036637.1|pseudogene||n.*1549T>C|||||1549|,C|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036638.1|pseudogene||n.*1549T>C|||||1549|,C|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195737.1|protein_coding||c.*3591T>C|||||1549|,C|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195738.1|protein_coding||c.*3604T>C|||||1549|,C|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195740.1|protein_coding||c.*3591T>C|||||1549|,C|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195741.1|protein_coding||c.*3591T>C|||||1549|,C|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_152371.3|protein_coding||c.*3591T>C|||||1549|,C|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|19/23|c.1868-52A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=14738;p3_1000G_EAS_AF=0.5337;p3_1000G_EUR_AF=0.331;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2524457;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1815,839;ESP6500_AA_GTC=630,555,142;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=34;ESP6500_EA_AC=1519,3097;ESP6500_EA_GTC=258,1003,1047;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:intron;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2593018;ESP6500_GTC=888,1558,1189;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.1868-52A>G;ESP6500_MAF=32.9073,31.6127,45.8597;ESP6500_TAC=3334,3936	GT:AD:DP:GQ:PL	0/1:13,7:20:99:195,0,337
chr1	2593046	rs1555790	C	T	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.369;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=0.176;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1555790;dbSNPBuildID=88;ANN=T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195736.1|protein_coding||c.*3619C>T|||||1577|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036637.1|pseudogene||n.*1577C>T|||||1577|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036638.1|pseudogene||n.*1577C>T|||||1577|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195737.1|protein_coding||c.*3619C>T|||||1577|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195738.1|protein_coding||c.*3632C>T|||||1577|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195740.1|protein_coding||c.*3619C>T|||||1577|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195741.1|protein_coding||c.*3619C>T|||||1577|,T|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_152371.3|protein_coding||c.*3619C>T|||||1577|,T|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|19/23|c.1868-80G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1365;p3_1000G_AF=0.272564;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=15946;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.1551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2524485;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:162,0,304
chr1	2595307	rs3748816	A	G	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.401;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.492;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=1.74;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748816;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|16/24|c.1553T>C|p.Met518Thr|1767/2902|1553/2340|518/779||,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195736.1|protein_coding||c.*5880A>G|||||3838|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036637.1|pseudogene||n.*3838A>G|||||3838|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036638.1|pseudogene||n.*3838A>G|||||3838|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195737.1|protein_coding||c.*5880A>G|||||3838|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195738.1|protein_coding||c.*5893A>G|||||3838|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195740.1|protein_coding||c.*5880A>G|||||3838|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195741.1|protein_coding||c.*5880A>G|||||3838|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_152371.3|protein_coding||c.*5880A>G|||||3838|;p3_1000G_AA=G|||;p3_1000G_AC=2711;p3_1000G_AF=0.541334;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=15245;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2526746;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3002,1404;ESP6500_AA_AGE=459.8+/-352.4;ESP6500_AA_GTC=1022,958,223;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20190752;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=67;ESP6500_EA_AC=2892,5708;ESP6500_EA_AGE=671.0+/-402.8;ESP6500_EA_GTC=487,1918,1895;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033467.3:missense;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2595307;ESP6500_GS=81;ESP6500_GTC=1509,2876,2118;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20190752;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.1553T>C;ESP6500_HGVS_PROTEIN_VAR=NM_033467.3:p.(M518T);ESP6500_MAF=33.6279,31.8656,45.3175;ESP6500_PH=benign:0.0;ESP6500_TAC=5894,7112	GT:AD:DP:GQ:PL	0/1:11,16:27:99:396,0,267
chr1	2596239	rs2260976	A	G	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.805;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2260976;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195736.1|protein_coding||c.*6812A>G|||||4770|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036637.1|pseudogene||n.*4770A>G|||||4770|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NR_036638.1|pseudogene||n.*4770A>G|||||4770|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195737.1|protein_coding||c.*6812A>G|||||4770|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195738.1|protein_coding||c.*6825A>G|||||4770|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195740.1|protein_coding||c.*6812A>G|||||4770|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_001195741.1|protein_coding||c.*6812A>G|||||4770|,G|downstream_gene_variant|MODIFIER|FAM213B|FAM213B|transcript|NM_152371.3|protein_coding||c.*6812A>G|||||4770|,G|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|14/23|c.1402-132T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2515;p3_1000G_AF=0.502196;p3_1000G_AFR_AF=0.3843;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=14556;p3_1000G_EAS_AF=0.4712;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2527678;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:157,0,225
chr1	2596694	rs2843401	T	C	1153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.657;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.285;SOR=0.676;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2843401;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|13/23|c.1273-5A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2512;p3_1000G_AF=0.501597;p3_1000G_AFR_AF=0.3835;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=14411;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.6889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2528133;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1876,2530;ESP6500_AA_AGE=627.4+/-394.9;ESP6500_AA_GTC=406,1064,733;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=5848,2752;ESP6500_EA_AGE=435.4+/-358.0;ESP6500_EA_GTC=1984,1880,436;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:intron;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2596694;ESP6500_GTC=2390,2944,1169;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.1273-5A>G;ESP6500_MAF=32.0,42.5783,40.612;ESP6500_TAC=7724,5282	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1182,0,677
chr1	2598902	rs34705971;rs397760354	A	AG	38.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.35;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34705971;dbSNPBuildID=126,138;ANN=AG|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|11/23|c.1042-113dupC||||||;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=2525;p3_1000G_AF=0.504193;p3_1000G_AFR_AF=0.3888;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=17563;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.6889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2530341;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0
chr1	2604174	rs4648562	C	A	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.57;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.014;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648562;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|10/24|c.924G>T|p.Val308Val|1138/2902|924/2340|308/779||;p3_1000G_AA=C|||;p3_1000G_AC=2484;p3_1000G_AF=0.496006;p3_1000G_AFR_AF=0.6112;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=12736;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.3121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2535613;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2518,1888;ESP6500_AA_GTC=728,1062,413;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=36;ESP6500_EA_AC=2731,5867;ESP6500_EA_GTC=435,1861,2003;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:coding-synonymous;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2604174;ESP6500_GTC=1163,2923,2416;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.924G>T;ESP6500_HGVS_PROTEIN_VAR=NM_033467.3:p.(V308);ESP6500_MAF=31.7632,42.8507,40.3645;ESP6500_TAC=5249,7755	GT:AD:DP:GQ:PL	0/1:6,9:15:99:248,0,176
chr1	2604319	rs4648652	A	G	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.096;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-1.762;SOR=0.857;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648652;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|9/23|c.817-38T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=11823;p3_1000G_EAS_AF=0.5327;p3_1000G_EUR_AF=0.332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2535758;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2985,1413;ESP6500_AA_GTC=1026,933,240;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=30;ESP6500_EA_AC=2873,5713;ESP6500_EA_GTC=499,1875,1919;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:intron;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2604319;ESP6500_GTC=1525,2808,2159;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.817-38T>C;ESP6500_MAF=33.4614,32.1282,45.1171;ESP6500_TAC=5858,7126	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,18:43:99:1|0:2604309_G_T:375,0,619
chr1	2605656	rs78506337	G	A	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.461;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.027;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78506337;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|8/23|c.751-33C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2546;p3_1000G_AF=0.508387;p3_1000G_AFR_AF=0.649;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=10042;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.3111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2537095;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5307;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2690,1714;ESP6500_AA_AGE=606.6+/-390.8;ESP6500_AA_GTC=817,1056,329;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=38;ESP6500_EA_AC=2741,5857;ESP6500_EA_AGE=415.9+/-351.9;ESP6500_EA_GTC=431,1879,1989;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:intron;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2605656;ESP6500_GTC=1248,2935,2318;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.751-33C>T;ESP6500_MAF=31.8795,38.9192,41.7705;ESP6500_TAC=5431,7571	GT:AD:DP:GQ:PL	0/1:14,13:27:99:342,0,388
chr1	2606399	rs41300092	C	T	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.666;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=2.27;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41300092;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|7/23|c.632-33G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2384;p3_1000G_AF=0.476038;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=13106;p3_1000G_EAS_AF=0.5337;p3_1000G_EUR_AF=0.3091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2537838;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2218,2178;ESP6500_AA_GTC=564,1090,544;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=18;ESP6500_EA_AC=2705,5889;ESP6500_EA_GTC=440,1825,2032;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:intron;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2606399;ESP6500_GTC=1004,2915,2576;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.632-33G>A;ESP6500_MAF=31.4754,49.545,37.8984;ESP6500_TAC=4923,8067	GT:AD:DP:GQ:PL	0/1:9,8:17:99:169,0,283
chr1	2606910	rs10797436	G	A	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.803;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.847;SOR=0.069;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10797436;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|7/23|c.631+64C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2384;p3_1000G_AF=0.476038;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=15075;p3_1000G_EAS_AF=0.5317;p3_1000G_EUR_AF=0.3111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2538349;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:107,0,119
chr1	2609830	rs10797440	A	G	754.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.212;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=-1.311;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10797440;dbSNPBuildID=120;ANN=G|splice_region_variant&synonymous_variant|LOW|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|5/24|c.294T>C|p.Ala98Ala|508/2902|294/2340|98/779||;p3_1000G_AA=g|||;p3_1000G_AC=2662;p3_1000G_AF=0.53155;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=18168;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.33;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2541269;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2887,1519;ESP6500_AA_GTC=947,993,263;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-3.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=66;ESP6500_EA_AC=2852,5748;ESP6500_EA_GTC=475,1902,1923;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033467.3:coding-synonymous-near-splice;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2609830;ESP6500_GTC=1422,2895,2186;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.294T>C;ESP6500_HGVS_PROTEIN_VAR=NM_033467.3:p.(A98);ESP6500_MAF=33.1628,34.4757,44.1258;ESP6500_TAC=5739,7267	GT:AD:DP:GQ:PL	0/1:14,28:42:99:783,0,358
chr1	2611214	rs10910111	A	G	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10910111;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|4/23|c.292+67T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=2699;p3_1000G_AF=0.538938;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=10428;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2542653;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=916,456;ESP6500_AA_GTC=316,284,86;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=9;ESP6500_EA_AC=1021,2125;ESP6500_EA_GTC=185,651,737;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:intron;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2611214;ESP6500_GTC=501,935,823;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.292+67T>C;ESP6500_MAF=32.4539,33.2362,42.873;ESP6500_TAC=1937,2581	GT:AD:DP:GQ:PL	0/1:5,8:13:99:270,0,121
chr1	2629296	rs4648657	A	G	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.38;ReadPosRankSum=0.674;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648657;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|2/23|c.154+35T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=2593;p3_1000G_AF=0.517772;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=8613;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.6909;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2560735;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1670,1556;ESP6500_AA_GTC=483,704,426;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=5;ESP6500_EA_AC=4418,1688;ESP6500_EA_GTC=1666,1086,301;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:intron;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2629296;ESP6500_GTC=2149,1790,727;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.154+35T>C;ESP6500_MAF=27.6449,48.2331,34.7621;ESP6500_TAC=6088,3244	GT:AD:DP:GQ:PL	0/1:6,4:10:92:92,0,115
chr1	2629443	rs4648658	G	A	485.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.048;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.24;ReadPosRankSum=0.869;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648658;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|2/24|c.42C>T|p.Ala14Ala|256/2902|42/2340|14/779||;p3_1000G_AA=-|||;p3_1000G_AC=2311;p3_1000G_AF=0.461462;p3_1000G_AFR_AF=0.2693;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=11458;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2560882;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1386,2372;ESP6500_AA_GTC=292,802,785;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=12;ESP6500_EA_AC=5087,2117;ESP6500_EA_GTC=1849,1389,364;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:coding-synonymous;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2629443;ESP6500_GTC=2141,2191,1149;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.42C>T;ESP6500_HGVS_PROTEIN_VAR=NM_033467.3:p.(A14);ESP6500_MAF=29.3865,36.8813,40.9506;ESP6500_TAC=6473,4489	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,14:24:99:0|1:2629443_G_A:514,0,467
chr1	2629464	rs4648659	T	G	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.363;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=1.06;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648659;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|MMEL1|MMEL1.2|transcript|NM_033467.3.2|protein_coding|2/24|c.21A>C|p.Pro7Pro|235/2902|21/2340|7/779||;p3_1000G_AA=-|||;p3_1000G_AC=2583;p3_1000G_AF=0.515775;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=11780;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.6909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2560903;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1843,1861;ESP6500_AA_GTC=506,831,515;ESP6500_CDS_SIZES=NM_033467.3:2340;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=10;ESP6500_EA_AC=5044,2006;ESP6500_EA_GTC=1842,1360,323;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033467.3:coding-synonymous;ESP6500_GL=MMEL1;ESP6500_GRCh38_POSITION=1:2629464;ESP6500_GTC=2348,2191,838;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_033467.3:c.21A>C;ESP6500_HGVS_PROTEIN_VAR=NM_033467.3:p.(P7);ESP6500_MAF=28.4539,49.757,35.9587;ESP6500_TAC=6887,3867	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,12:20:99:0|1:2629443_G_A:477,0,429
chr1	2641760	rs4648662	A	G	755.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.07;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4648662;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|TTC34|TTC34|transcript|NM_001242672.1|protein_coding|7/7|c.1309T>C|p.Leu437Leu|1383/1775|1309/1701|437/566||;p3_1000G_AA=g|||;p3_1000G_AC=4681;p3_1000G_AF=0.934704;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=14392;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2573199;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:784,78,0
chr1	2783572	rs4648502	G	C	969.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=2.387;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TTC34|TTC34|transcript|NM_001242672.1|protein_coding|4/6|c.687+37C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3579;p3_1000G_AF=0.714657;p3_1000G_AFR_AF=0.9054;p3_1000G_AMR_AF=0.6094999999999999;p3_1000G_AN=5008;p3_1000G_DP=15613;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_POS=2700117;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:998,81,0
chr1	2783827	rs4648390	C	T	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.608;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=4.677;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.135;SOR=1.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648390;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TTC34|TTC34|transcript|NM_001242672.1|protein_coding|3/6|c.521-52G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1386;p3_1000G_AF=0.276757;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=17545;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.16;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2700372;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,20:39:99:502,0,610
chr1	2786113	.	C	A	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.275;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.812;SOR=0.446;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|TTC34|TTC34|transcript|NM_001242672.1|protein_coding|2/6|c.316-90G>T||||||	GT:AD:DP:GQ:PL	0/1:3,6:9:86:145,0,86
chr1	2787906	rs12748553	T	C	409.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.15;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|TTC34|TTC34|transcript|NM_001242672.1|protein_coding|1/6|c.90-200A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3584;p3_1000G_AF=0.7156549999999999;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.6094999999999999;p3_1000G_AN=5008;p3_1000G_DP=20197;p3_1000G_EAS_AF=0.6457999999999999;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_POS=2704471;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:438,36,0
chr1	3021701	rs4576609	C	T	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.113;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=8.089;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=0.271;SOR=0.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4576609;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|ACTRT2|ACTRT2|transcript|NM_080431.4|protein_coding|1/1|c.15C>T|p.His5His|220/1422|15/1134|5/377||;p3_1000G_AA=C|||;p3_1000G_AC=1010;p3_1000G_AF=0.201677;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=17517;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2938265;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=624,3782;ESP6500_AA_AGE=251.8+/-258.4;ESP6500_AA_GTC=49,526,1628;ESP6500_CDS_SIZES=NM_080431.4:1134;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=60;ESP6500_EA_AC=1537,7063;ESP6500_EA_AGE=286.6+/-297.8;ESP6500_EA_GTC=124,1289,2887;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080431.4:coding-synonymous;ESP6500_GL=ACTRT2;ESP6500_GRCh38_POSITION=1:3021701;ESP6500_GTC=173,1815,4515;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080431.4:c.15C>T;ESP6500_HGVS_PROTEIN_VAR=NM_080431.4:p.(H5);ESP6500_MAF=17.8721,14.1625,16.6154;ESP6500_TAC=2161,10845	GT:AD:DP:GQ:PL	0/1:17,6:23:99:104,0,600
chr1	3022133	rs3795262	T	G	691.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.122;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0.937;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.283;SOR=0.913;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795262;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|ACTRT2|ACTRT2|transcript|NM_080431.4|protein_coding|1/1|c.447T>G|p.Ser149Ser|652/1422|447/1134|149/377||;p3_1000G_AA=G|||;p3_1000G_AC=1047;p3_1000G_AF=0.209065;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=18354;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2938697;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=736,3670;ESP6500_AA_AGE=756.4+/-412.6;ESP6500_AA_GTC=65,606,1532;ESP6500_CDS_SIZES=NM_080431.4:1134;ESP6500_CG=-9.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=59;ESP6500_EA_AC=1542,7058;ESP6500_EA_AGE=744.7+/-407.2;ESP6500_EA_GTC=125,1292,2883;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080431.4:coding-synonymous;ESP6500_GL=ACTRT2;ESP6500_GRCh38_POSITION=1:3022133;ESP6500_GTC=190,1898,4415;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_080431.4:c.447T>G;ESP6500_HGVS_PROTEIN_VAR=NM_080431.4:p.(S149);ESP6500_MAF=17.9302,16.7045,17.515;ESP6500_TAC=2278,10728	GT:AD:DP:GQ:PL	0/1:37,30:67:99:720,0,961
chr1	3022425	rs3795263	G	A	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.185;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.283;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.576;SOR=1.008;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795263;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|ACTRT2|ACTRT2|transcript|NM_080431.4|protein_coding|1/1|c.739G>A|p.Gly247Arg|944/1422|739/1134|247/377||;p3_1000G_AA=G|||;p3_1000G_AC=611;p3_1000G_AF=0.122005;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=16197;p3_1000G_EAS_AF=0.1607;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2938989;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=218,4188;ESP6500_AA_GTC=11,196,1996;ESP6500_CDS_SIZES=NM_080431.4:1134;ESP6500_CG=4.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=40;ESP6500_EA_AC=2009,6589;ESP6500_EA_GTC=245,1519,2535;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080431.4:missense;ESP6500_GL=ACTRT2;ESP6500_GRCh38_POSITION=1:3022425;ESP6500_GS=125;ESP6500_GTC=256,1715,4531;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080431.4:c.739G>A;ESP6500_HGVS_PROTEIN_VAR=NM_080431.4:p.(G247R);ESP6500_MAF=23.3659,4.9478,17.1255;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=2227,10777	GT:AD:DP:GQ:PL	0/1:23,15:38:99:401,0,635
chr1	3022845	rs12564513	G	T	430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.858;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.626;SOR=1.755;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12564513;dbSNPBuildID=120;ANN=T|3_prime_UTR_variant|MODIFIER|ACTRT2|ACTRT2|transcript|NM_080431.4|protein_coding|1/1|c.*25G>T|||||25|;p3_1000G_AA=G|||;p3_1000G_AC=391;p3_1000G_AF=0.0780751;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=17059;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2939409;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=239,4121;ESP6500_AA_GTC=10,219,1951;ESP6500_CDS_SIZES=NM_080431.4:1134;ESP6500_CG=3.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=66;ESP6500_EA_AC=49,8517;ESP6500_EA_GTC=0,49,4234;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080431.4:utr-3;ESP6500_GL=ACTRT2;ESP6500_GRCh38_POSITION=1:3022845;ESP6500_GTC=10,268,6185;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_080431.4:c.*25G>T;ESP6500_MAF=0.572,5.4817,2.2281;ESP6500_TAC=288,12638	GT:AD:DP:GQ:PL	0/1:17,17:34:99:459,0,462
chr1	3385157	rs2282198;227041	C	T	1323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=2.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2282198;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|4/17|c.444C>T|p.Ser148Ser|526/8723|444/3831|148/1276||,T|synonymous_variant|LOW|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|4/17|c.444C>T|p.Ser148Ser|526/8666|444/3774|148/1257||;p3_1000G_AA=C|||;p3_1000G_AC=1705;p3_1000G_AF=0.340455;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=18269;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.2684;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3301721;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=351,3947;ESP6500_AA_GTC=22,307,1820;ESP6500_CDS_SIZES=NM_199454.2:3774,NM_022114.3:3831;ESP6500_CG=-9.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=82;ESP6500_EA_AC=2281,6267;ESP6500_EA_GTC=290,1701,2283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199454.2:coding-synonymous,NM_022114.3:coding-synonymous;ESP6500_GL=PRDM16;ESP6500_GRCh38_POSITION=1:3385157;ESP6500_GTC=312,2008,4103;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_199454.2:c.444C>T,NM_022114.3:c.444C>T;ESP6500_HGVS_PROTEIN_VAR=NM_199454.2:p.(S148),NM_022114.3:p.(S148);ESP6500_MAF=26.6846,8.1666,20.4889;ESP6500_TAC=2632,10214;CLINVAR_AF_ESP=0.2049;CLINVAR_AF_EXAC=0.32950;CLINVAR_AF_TGP=0.3405;CLINVAR_ALLELEID=228417;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.3385157C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PRDM16:63976;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2282198	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1352,123,0
chr1	3386594	rs3215936;rs397786003	GA	G	232.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.86;SOR=2.093;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3215936;dbSNPBuildID=134,138;ANN=G|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|4/16|c.573+1317delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|4/16|c.573+1317delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|AAAAAAAAA|AAAAAAAA|unsure;p3_1000G_AC=3839;p3_1000G_AF=0.766573;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=17924;p3_1000G_EAS_AF=0.6399;p3_1000G_EUR_AF=0.7485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3303158;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:27:270,27,0
chr1	3396350	rs871822	T	G	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.34;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-0.182;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs871822;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|4/16|c.574-141T>G||||||,G|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|4/16|c.574-141T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2305;p3_1000G_AF=0.460264;p3_1000G_AFR_AF=0.4002;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=17574;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3312914;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:331,0,272
chr1	3403037	rs148238606	ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG	A	1161.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.871;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=8.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.069;SOR=0.177;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs148238606;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|6/16|c.884+64_884+94delTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|6/16|c.884+64_884+94delTCCCGTGCCCTCCTCTGAGTCTTCCTCCCCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1783;p3_1000G_AF=0.35603;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=17535;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3319601;p3_1000G_GRCH37_REF=ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=INDEL;ESP6500_AA_AC=332,3526;ESP6500_AA_GTC=44,244,1641;ESP6500_CDS_SIZES=NM_199454.2:3774,NM_022114.3:3831;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=23;ESP6500_EA_AC=1392,6448;ESP6500_EA_GTC=227,938,2755;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199454.2:intron,NM_022114.3:intron;ESP6500_GL=PRDM16;ESP6500_GRCh38_POSITION=1:3403037;ESP6500_GTC=271,1182,4396;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_199454.2:c.884+40_884+70del31,NM_022114.3:c.884+40_884+70del31;ESP6500_MAF=17.7551,8.6055,14.7376;ESP6500_TAC=1724,9974	GT:AD:DP:GQ:PL	0/1:35,33:68:99:1199,0,1920
chr1	3403110	rs12562397	C	T	1309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.82;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=14.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.58;ReadPosRankSum=-1.551;SOR=0.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12562397;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|6/16|c.884+112C>T||||||,T|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|6/16|c.884+112C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2816;p3_1000G_AF=0.5623;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=13664;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.6511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3319674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,35:58:99:0|1:3403110_C_T:1338,0,1220
chr1	3403117	rs12562399	C	G	1334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.293;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=15.072;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.01;ReadPosRankSum=-2.412;SOR=0.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12562399;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|6/16|c.884+119C>G||||||,G|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|6/16|c.884+119C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2815;p3_1000G_AF=0.562101;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=14034;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.6511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3319681;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,37:58:99:0|1:3403110_C_T:1363,0,1189
chr1	3411794	rs870124;227026	T	C	1931.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs870124;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|9/17|c.1597T>C|p.Ser533Pro|1679/8723|1597/3831|533/1276||,C|missense_variant|MODERATE|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|9/17|c.1597T>C|p.Ser533Pro|1679/8666|1597/3774|533/1257||;p3_1000G_AA=C|||;p3_1000G_AC=4733;p3_1000G_AF=0.945088;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=12650;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8419;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3328358;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9642;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3759,127;ESP6500_AA_GTC=1817,125,1;ESP6500_CDS_SIZES=NM_199454.2:3774,NM_022114.3:3831;ESP6500_CG=5.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=75;ESP6500_EA_AC=6902,1358;ESP6500_EA_GTC=2895,1112,123;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199454.2:missense,NM_022114.3:missense;ESP6500_GL=PRDM16;ESP6500_GRCh38_POSITION=1:3411794;ESP6500_GS=74,74;ESP6500_GTC=4712,1237,124;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_199454.2:c.1597T>C,NM_022114.3:c.1597T>C;ESP6500_HGVS_PROTEIN_VAR=NM_199454.2:p.(S533P),NM_022114.3:p.(S533P);ESP6500_MAF=16.4407,3.2681,12.2262;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10661,1485;CLINVAR_ALLELEID=228438;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.3411794T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q9HAZ2#VAR_031433;CLINVAR_GENEINFO=PRDM16:63976;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=870124	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1960,180,0
chr1	3425497	rs117270255	G	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.831;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.319;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117270255;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|12/16|c.2940-84G>A||||||,A|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|12/16|c.2940-84G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=118;p3_1000G_AF=0.0235623;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=11723;p3_1000G_EAS_AF=0.0913;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3342061;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:337,0,312
chr1	3426240	rs870171;227035	G	T	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.557;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.53;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs870171;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|14/16|c.3284+15G>T||||||,T|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|14/16|c.3284+15G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1900;p3_1000G_AF=0.379393;p3_1000G_AFR_AF=0.4387;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=17315;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.2753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3342804;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1578,2306;ESP6500_AA_GTC=310,958,674;ESP6500_CDS_SIZES=NM_199454.2:3774,NM_022114.3:3831;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=61;ESP6500_EA_AC=2256,6026;ESP6500_EA_GTC=319,1618,2204;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199454.2:intron,NM_022114.3:intron;ESP6500_GL=PRDM16;ESP6500_GRCh38_POSITION=1:3426240;ESP6500_GTC=629,2576,2878;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_199454.2:c.3284+15G>T,NM_022114.3:c.3284+15G>T;ESP6500_MAF=27.2398,40.6282,31.5141;ESP6500_TAC=3834,8332;CLINVAR_AF_ESP=0.3151;CLINVAR_AF_EXAC=0.29802;CLINVAR_AF_TGP=0.3794;CLINVAR_ALLELEID=228464;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.3426240G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PRDM16:63976;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=870171	GT:AD:DP:GQ:PL	0/1:7,16:23:99:415,0,182
chr1	3433570	rs10752734	T	C	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.23;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.812;SOR=1.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10752734;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|16/16|c.3697-107T>C||||||,C|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|16/16|c.3697-164T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=9289;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3350134;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,5:15:99:0|1:3433570_T_C:215,0,617
chr1	3433609	rs2493271	T	C	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.484;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.319;SOR=1.138;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2493271;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|16/16|c.3697-68T>C||||||,C|intron_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|16/16|c.3697-125T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2022;p3_1000G_AF=0.403754;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=11510;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.2495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3350173;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2331;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,13:37:99:0|1:3433570_T_C:414,0,998
chr1	3433845	rs3748837	G	A	341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.578;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.466;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748837;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_022114.3|protein_coding|17/17|c.*34G>A|||||34|,A|3_prime_UTR_variant|MODIFIER|PRDM16|PRDM16|transcript|NM_199454.2|protein_coding|17/17|c.*34G>A|||||34|;p3_1000G_AA=g|||;p3_1000G_AC=492;p3_1000G_AF=0.0982428;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=12881;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3350409;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_VT=SNP;ESP6500_AA_AC=34,3882;ESP6500_AA_GTC=0,34,1924;ESP6500_CDS_SIZES=NM_199454.2:3774,NM_022114.3:3831;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=17;ESP6500_EA_AC=218,7992;ESP6500_EA_GTC=8,202,3895;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199454.2:utr-3,NM_022114.3:utr-3;ESP6500_GL=PRDM16;ESP6500_GRCh38_POSITION=1:3433845;ESP6500_GTC=8,236,5819;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_199454.2:c.*34G>A,NM_022114.3:c.*34G>A;ESP6500_MAF=2.6553,0.8682,2.0782;ESP6500_TAC=252,11874	GT:AD:DP:GQ:PL	0/1:20,17:37:99:370,0,660
chr1	3467101	rs7550948	G	A	344.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7550948;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|3/14|c.635-67G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3415;p3_1000G_AF=0.681909;p3_1000G_AFR_AF=0.388;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=17141;p3_1000G_EAS_AF=0.6657;p3_1000G_EUR_AF=0.8698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3383665;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:373,33,0
chr1	3467334	rs6424078	A	G	797.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6424078;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|4/15|c.801A>G|p.Pro267Pro|1049/2904|801/2130|267/709||;p3_1000G_AA=G|||;p3_1000G_AC=4307;p3_1000G_AF=0.860024;p3_1000G_AFR_AF=0.8563;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=15420;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3383898;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1207,177;ESP6500_AA_GTC=531,145,16;ESP6500_CDS_SIZES=NM_014448.3:2130;ESP6500_CG=-8.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=2887,291;ESP6500_EA_GTC=1309,269,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014448.3:coding-synonymous;ESP6500_GL=ARHGEF16;ESP6500_GRCh38_POSITION=1:3467334;ESP6500_GTC=1840,414,27;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014448.3:c.801A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014448.3:p.(P267);ESP6500_MAF=9.1567,12.789,10.2587;ESP6500_TAC=4094,468	GT:AD:DP:GQ:PL	1/1:0,26:26:78:826,78,0
chr1	3468686	rs1417897	C	A	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.287;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.88;ReadPosRankSum=-0.253;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1417897;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|4/14|c.805-194C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2581;p3_1000G_AF=0.515375;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=13950;p3_1000G_EAS_AF=0.7103;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3385250;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,8:10:60:257,0,60
chr1	3468692	rs1891143	A	G	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.89;ReadPosRankSum=-0.718;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1891143;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|4/14|c.805-188A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2488;p3_1000G_AF=0.496805;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=13723;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.5656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3385256;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:60:60,0,327
chr1	3468766	rs2493249	T	C	899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2493249;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|4/14|c.805-114T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4856;p3_1000G_AF=0.969649;p3_1000G_AFR_AF=0.8949;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=15004;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3385330;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:928,90,0
chr1	3473163	rs2185639	C	T	2081.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.91;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2185639;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|7/15|c.1108C>T|p.His370Tyr|1356/2904|1108/2130|370/709||;p3_1000G_AA=C|||;p3_1000G_AC=3428;p3_1000G_AF=0.684505;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=15906;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.8638;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3389727;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2063,2343;ESP6500_AA_AGE=567.5+/-382.2;ESP6500_AA_GTC=485,1093,625;ESP6500_CDS_SIZES=NM_014448.3:2130;ESP6500_CG=3.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=130;ESP6500_EA_AC=7501,1099;ESP6500_EA_AGE=767.2+/-407.6;ESP6500_EA_GTC=3263,975,62;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014448.3:missense;ESP6500_GL=ARHGEF16;ESP6500_GRCh38_POSITION=1:3473163;ESP6500_GS=83;ESP6500_GTC=3748,2068,687;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014448.3:c.1108C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014448.3:p.(H370Y);ESP6500_MAF=12.7791,46.8225,26.4647;ESP6500_PH=benign:0.011;ESP6500_TAC=9564,3442	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2110,215,0
chr1	3477892	rs4638054	T	C	1987.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4638054;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|11/15|c.1491T>C|p.Ser497Ser|1739/2904|1491/2130|497/709||;p3_1000G_AA=C|||;p3_1000G_AC=4861;p3_1000G_AF=0.970647;p3_1000G_AFR_AF=0.8971;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=16087;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3394456;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3964,400;ESP6500_AA_AGE=196.4+/-220.7;ESP6500_AA_GTC=1802,360,20;ESP6500_CDS_SIZES=NM_014448.3:2130;ESP6500_CG=-10.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=47;ESP6500_EA_AC=8558,8;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=4275,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014448.3:coding-synonymous;ESP6500_GL=ARHGEF16;ESP6500_GRCh38_POSITION=1:3477892;ESP6500_GTC=6077,368,20;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014448.3:c.1491T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014448.3:p.(S497);ESP6500_MAF=0.0934,9.1659,3.1555;ESP6500_TAC=12522,408	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2016,180,0
chr1	3478076	rs4422946	A	G	2469.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4422946;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|11/14|c.1625+50A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4506;p3_1000G_AF=0.89976;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=16117;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.9245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3394640;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3713,647;ESP6500_AA_AGE=271.6+/-270.3;ESP6500_AA_GTC=1591,531,58;ESP6500_CDS_SIZES=NM_014448.3:2130;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=51;ESP6500_EA_AC=8096,486;ESP6500_EA_AGE=140.6+/-197.1;ESP6500_EA_GTC=3823,450,18;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014448.3:intron;ESP6500_GL=ARHGEF16;ESP6500_GRCh38_POSITION=1:3478076;ESP6500_GTC=5414,981,76;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014448.3:c.1625+50A>G;ESP6500_MAF=5.663,14.8394,8.7544;ESP6500_TAC=11809,1133	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2498,222,0
chr1	3478110	rs4534324	T	C	1732.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4534324;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|11/14|c.1625+84T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4865;p3_1000G_AF=0.971446;p3_1000G_AFR_AF=0.8971;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=15125;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3394674;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1761,162,0
chr1	3478475	rs10797395	G	A	1245.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.97;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10797395;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|12/15|c.1677G>A|p.Val559Val|1925/2904|1677/2130|559/709||;p3_1000G_AA=G|||;p3_1000G_AC=3436;p3_1000G_AF=0.686102;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=17081;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.8628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3395039;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2073,2325;ESP6500_AA_AGE=564.1+/-381.3;ESP6500_AA_GTC=495,1083,621;ESP6500_CDS_SIZES=NM_014448.3:2130;ESP6500_CG=-0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=85;ESP6500_EA_AC=7453,1123;ESP6500_EA_AGE=764.3+/-407.6;ESP6500_EA_GTC=3231,991,66;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014448.3:coding-synonymous;ESP6500_GL=ARHGEF16;ESP6500_GRCh38_POSITION=1:3478475;ESP6500_GTC=3726,2074,687;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014448.3:c.1677G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014448.3:p.(V559);ESP6500_MAF=13.0947,47.1351,26.5762;ESP6500_TAC=9526,3448	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1274,129,0
chr1	3478665	rs4553117	T	C	342.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.28;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4553117;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|12/14|c.1814+53T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4875;p3_1000G_AF=0.973442;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=14783;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3395229;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:371,30,0
chr1	3479409	rs397806933;rs70938094;rs869032210	ACC	A	718.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=1.739;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs70938094;dbSNPBuildID=132,147,138;ANN=A|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|12/14|c.1815-104_1815-103delCC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,17:17:51:756,51,0
chr1	3480045	rs881978	C	T	219.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs881978;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|14/14|c.1990+132C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3405;p3_1000G_AF=0.679912;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=19419;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.8648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3396609;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:248,18,0
chr1	3480624	rs2487677	T	C	937.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=2.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2487677;dbSNPBuildID=100;ANN=C|3_prime_UTR_variant|MODIFIER|ARHGEF16|ARHGEF16|transcript|NM_014448.3|protein_coding|15/15|c.*37T>C|||||37|;p3_1000G_AA=C|||;p3_1000G_AC=4967;p3_1000G_AF=0.991813;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16622;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3397188;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4275,93;ESP6500_AA_GTC=2091,93,0;ESP6500_CDS_SIZES=NM_014448.3:2130;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=16;ESP6500_EA_AC=8533,1;ESP6500_EA_GTC=4266,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014448.3:utr-3;ESP6500_GL=ARHGEF16;ESP6500_GRCh38_POSITION=1:3480624;ESP6500_GTC=6357,94,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014448.3:c.*37T>C;ESP6500_MAF=0.0117,2.1291,0.7286;ESP6500_TAC=12808,94	GT:AD:DP:GQ:PL	1/1:0,27:27:81:966,81,0
chr1	3496987	rs370356299	C	T	247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.28;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.998;SOR=0.538;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370356299;dbSNPBuildID=138;ANN=T|splice_donor_variant&intron_variant|HIGH|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|28/36|c.3613+1G>A||||||;LOF=(MEGF6|MEGF6|1|1.00);p3_1000G_AA=C|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15287;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3413551;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:276,0,277
chr1	3497541	rs10909951	C	T	529.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.43;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10909951;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|26/36|c.3353-180G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1674;p3_1000G_AF=0.334265;p3_1000G_AFR_AF=0.18;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=14612;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.4374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3414105;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:558,54,0
chr1	3499885	rs7553399	C	A	1094.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7553399;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|22/37|c.2747G>T|p.Arg916Leu|2974/7439|2747/4626|916/1541||;p3_1000G_AA=C|||;p3_1000G_AC=2846;p3_1000G_AF=0.568291;p3_1000G_AFR_AF=0.3177;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=14872;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.7515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3416449;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1637,2359;ESP6500_AA_GTC=387,863,748;ESP6500_CDS_SIZES=NM_001409.3:4626;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=8;ESP6500_EA_AC=6151,2071;ESP6500_EA_GTC=2383,1385,343;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001409.3:missense;ESP6500_GL=MEGF6;ESP6500_GRCh38_POSITION=1:3499885;ESP6500_GS=102;ESP6500_GTC=2770,2248,1091;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001409.3:c.2747G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001409.3:p.(R916L);ESP6500_MAF=25.1885,40.966,36.258;ESP6500_PH=benign:0.045;ESP6500_TAC=7788,4430	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1123,108,0
chr1	3500567	rs2821031	A	G	418.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2821031;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|21/36|c.2707+66T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3699;p3_1000G_AF=0.738618;p3_1000G_AFR_AF=0.6415;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=18636;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.8419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3417131;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.864;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:447,42,0
chr1	3500711	rs56955077	C	T	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.008;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.51;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.92;ReadPosRankSum=-0.13;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56955077;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|21/37|c.2629G>A|p.Ala877Thr|2856/7439|2629/4626|877/1541||;p3_1000G_AA=C|||;p3_1000G_AC=25;p3_1000G_AF=0.00499201;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16842;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3417275;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,4271;ESP6500_AA_GTC=0,1,2135;ESP6500_CDS_SIZES=NM_001409.3:4626;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=16;ESP6500_EA_AC=1,8483;ESP6500_EA_GTC=0,1,4241;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001409.3:missense;ESP6500_GL=MEGF6;ESP6500_GRCh38_POSITION=1:3500711;ESP6500_GS=58;ESP6500_GTC=0,2,6376;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001409.3:c.2629G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001409.3:p.(A877T);ESP6500_MAF=0.0118,0.0234,0.0157;ESP6500_PH=benign:0.005;ESP6500_TAC=2,12754	GT:AD:DP:GQ:PL	0/1:17,10:27:99:188,0,483
chr1	3501396	rs4648507	G	A	824.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4648507;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|18/36|c.2315-88C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2862;p3_1000G_AF=0.571486;p3_1000G_AFR_AF=0.3215;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=15554;p3_1000G_EAS_AF=0.4663;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3417960;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:853,78,0
chr1	3502001	rs2821030	T	C	570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2821030;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|17/36|c.2189-80A>G||||||	GT:AD:DP:GQ:PL	1/1:0,19:19:57:599,57,0
chr1	3502049	rs139503756	CCG	C	398.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.23;ReadPosRankSum=1.31;SOR=0.818;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs139503756;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|17/36|c.2189-130_2189-129delCG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,11:12:31:0|1:3502049_CCG_C:436,0,31
chr1	3502052	rs57408931	G	A	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.496;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.94;MQRankSum=0;QD=33.98;ReadPosRankSum=0.872;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57408931;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|17/36|c.2189-131C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,11:12:31:0|1:3502049_CCG_C:436,0,31
chr1	3502054	rs57082253	G	A	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.116;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.93;MQRankSum=2.46;QD=33.98;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57082253;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|17/36|c.2189-133C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,10:12:31:0|1:3502049_CCG_C:436,0,31
chr1	3511766	rs1434187643	C	T	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.136;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=1.16;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|8/36|c.977-79G>A||||||	GT:AD:DP:GQ:PL	0/1:7,6:13:99:164,0,186
chr1	3524083	rs2794322	T	C	391.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2794322;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|5/36|c.604+41A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4697;p3_1000G_AF=0.937899;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=1597;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.9662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3440647;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9049;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3677,191;ESP6500_AA_GTC=1751,175,8;ESP6500_CDS_SIZES=NM_001409.3:4626;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=17;ESP6500_EA_AC=7992,310;ESP6500_EA_GTC=3846,300,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001409.3:intron;ESP6500_GL=MEGF6;ESP6500_GRCh38_POSITION=1:3524083;ESP6500_GTC=5597,475,13;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001409.3:c.604+41A>G;ESP6500_MAF=3.734,4.938,4.1167;ESP6500_TAC=11669,501	GT:AD:DP:GQ:PL	1/1:0,12:12:36:420,36,0
chr1	3579764	rs2821051	T	C	391.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2821051;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|MEGF6|MEGF6|domain:EGF-like_2|NM_001409.3|protein_coding|4/36|c.481+61A>G||||||,C|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|4/36|c.481+61A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3959;p3_1000G_AF=0.790535;p3_1000G_AFR_AF=0.6483;p3_1000G_AMR_AF=0.8718;p3_1000G_AN=5008;p3_1000G_DP=16834;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3496328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:420,33,0
chr1	3579915	rs2794340	T	C	682.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2794340;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|4/37|c.391A>G|p.Ser131Gly|618/7439|391/4626|131/1541||;p3_1000G_AA=C|||;p3_1000G_AC=4271;p3_1000G_AF=0.852835;p3_1000G_AFR_AF=0.8691;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=14242;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.9155;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3496479;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3411,469;ESP6500_AA_GTC=1502,407,31;ESP6500_CDS_SIZES=NM_001409.3:4626;ESP6500_CG=4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=16;ESP6500_EA_AC=7535,691;ESP6500_EA_GTC=3457,621,35;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001409.3:missense;ESP6500_GL=MEGF6;ESP6500_GRCh38_POSITION=1:3579915;ESP6500_GS=56;ESP6500_GTC=4959,1028,66;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001409.3:c.391A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001409.3:p.(S131G);ESP6500_MAF=8.4002,12.0876,9.582;ESP6500_PH=benign:0.0;ESP6500_TAC=10946,1160	GT:AD:DP:GQ:PL	1/1:0,22:22:66:711,66,0
chr1	3602380	rs7521546	T	C	414.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7521546;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|2/36|c.266+86A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3099;p3_1000G_AF=0.61881;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=15050;p3_1000G_EAS_AF=0.6478;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3518944;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:443,36,0
chr1	3611380	rs10797402	C	G	141.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10797402;dbSNPBuildID=120;ANN=G|5_prime_UTR_variant|MODIFIER|MEGF6|MEGF6|transcript|NM_001409.3|protein_coding|1/37|c.-112G>C|||||112|;p3_1000G_AA=G|||;p3_1000G_AC=4691;p3_1000G_AF=0.936701;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=7705;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.9692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3527944;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:170,15,0
chr1	3628611	rs1332332257;rs147637374;rs58849058	GTTCTGGGAGCTCCTCCCCC	G	1585.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.432;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs147637374,rs58849058;dbSNPBuildID=134,151,129;ANN=G|3_prime_UTR_variant|MODIFIER|TPRG1L|TPRG1L|transcript|NM_182752.3|protein_coding|5/5|c.*29_*47delTCTGGGAGCTCCTCCCCCT|||||29|INFO_REALIGN_3_PRIME,G|downstream_gene_variant|MODIFIER|WRAP73|WRAP73|transcript|NM_017818.3|protein_coding||c.*2345_*2363delGGGGGAGGAGCTCCCAGAA|||||2155|;ESP6500_AA_AC=3641,547;ESP6500_AA_GTC=1630,381,83;ESP6500_CDS_SIZES=NM_182752.3:819;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=35;ESP6500_EA_AC=6598,1528;ESP6500_EA_GTC=2806,986,271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182752.3:utr-3;ESP6500_GL=TPRG1L;ESP6500_GRCh38_POSITION=1:3628611;ESP6500_GTC=4436,1367,354;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_182752.3:c.*9_*27del19;ESP6500_MAF=18.8038,13.0611,16.8507;ESP6500_TAC=10239,2075	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1623,114,0
chr1	3631342	rs79909620	C	T	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.117;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.016;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79909620;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|TPRG1L|TPRG1L|transcript|NM_182752.3|protein_coding||c.*2739C>T|||||1212|,T|intron_variant|MODIFIER|WRAP73|WRAP73|transcript|NM_017818.3|protein_coding|11/11|c.1240+124G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18319;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3547906;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:256,0,258
chr1	3631572	rs2760321	T	C	1271.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2760321;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|WRAP73|WRAP73|transcript|NM_017818.3|protein_coding|11/12|c.1134A>G|p.Ala378Ala|1242/1699|1134/1383|378/460||,C|downstream_gene_variant|MODIFIER|TPRG1L|TPRG1L|transcript|NM_182752.3|protein_coding||c.*2969T>C|||||1442|;p3_1000G_AA=C|||;p3_1000G_AC=4538;p3_1000G_AF=0.90615;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.8458;p3_1000G_AN=5008;p3_1000G_DP=15672;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.836;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3548136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9479;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3857,545;ESP6500_AA_AGE=238.4+/-249.8;ESP6500_AA_GTC=1693,471,37;ESP6500_CDS_SIZES=NM_017818.3:1383;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=7201,1399;ESP6500_EA_AGE=265.0+/-285.9;ESP6500_EA_GTC=3016,1169,115;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017818.3:coding-synonymous;ESP6500_GL=WRAP73;ESP6500_GRCh38_POSITION=1:3631572;ESP6500_GTC=4709,1640,152;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017818.3:c.1134A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017818.3:p.(A378);ESP6500_MAF=16.2674,12.3807,14.9515;ESP6500_TAC=11058,1944	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1300,120,0
chr1	3650061	rs145464993;rs3831025	AGCAGGCTG	A	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs145464993;dbSNPBuildID=134;ANN=A|5_prime_UTR_variant|MODIFIER|WRAP73|WRAP73|transcript|NM_017818.3|protein_coding|1/12|c.-70_-63delCAGCCTGC|||||63|,A|upstream_gene_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding||c.-32304_-32297delGCAGGCTG|||||2503|,A|upstream_gene_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding||c.-32304_-32297delGCAGGCTG|||||2503|,A|upstream_gene_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding||c.-32304_-32297delGCAGGCTG|||||2503|,A|upstream_gene_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding||c.-32304_-32297delGCAGGCTG|||||2503|,A|upstream_gene_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding||c.-32304_-32297delGCAGGCTG|||||2503|,A|upstream_gene_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding||c.-32304_-32297delGCAGGCTG|||||2503|;p3_1000G_AC=1874;p3_1000G_AF=0.374201;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=11752;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3566625;p3_1000G_GRCH37_REF=AGCAGGCTG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=INDEL;ESP6500_AA_AC=537,0,3249;ESP6500_AA_GTC=125,0,287,0,0,1481;ESP6500_CDS_SIZES=NM_017818.3:1383,NM_017818.3:1383;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=5;ESP6500_EA_AC=2850,9,4225;ESP6500_EA_GTC=902,0,1046,3,3,1588;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017818.3:utr-5,NM_017818.3:utr-5;ESP6500_GL=WRAP73;ESP6500_GRCh38_POSITION=1:3650061;ESP6500_GTC=1027,0,1333,3,3,3069;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_017818.3:c.-63del9,NM_017818.3:c.-70_-63del8;ESP6500_MAF=40.3586,14.1838,31.242;ESP6500_TAC=3387,9,7474	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0
chr1	3682950	rs57596460	C	T	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.412;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.982;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57596460;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|2/13|c.66-110C>T||||||,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|2/12|c.66-110C>T||||||,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|2/12|c.66-110C>T||||||,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|2/10|c.66-110C>T||||||,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|2/11|c.66-110C>T||||||,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|2/11|c.66-110C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=843;p3_1000G_AF=0.168331;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=17755;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3599514;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:350,0,301
chr1	3683186	rs57492244;rs796864922;rs544753424;~rs57492244	TG	T	533.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.663;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.444;SOR=0.527;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs57492244;dbSNPBuildID=137,146;ANN=T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|3/13|c.186+13delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|3/12|c.186+13delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|3/12|c.186+13delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|3/10|c.186+13delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|3/11|c.186+13delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|3/11|c.186+13delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=839;p3_1000G_AF=0.167532;p3_1000G_AFR_AF=0.3419;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=19030;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.0626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3599750;p3_1000G_GRCH37_REF=TG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=INDEL;ESP6500_AA_AC=3,1221,3040;ESP6500_AA_GTC=0,0,3,168,885,1076;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_005427.3:1911,NM_001204188.1:1623,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204185.1:1428,NM_001204184.1:1500,NM_001204184.1:1500;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=69;ESP6500_EA_AC=13,436,7805;ESP6500_EA_GTC=0,2,11,16,402,3696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:intron,NM_005427.3:intron,NM_001204188.1:intron,NM_001204188.1:intron,NM_001204187.1:intron,NM_001204187.1:intron,NM_001204186.1:intron,NM_001204186.1:intron,NM_001204185.1:intron,NM_001204185.1:intron,NM_001204184.1:intron,NM_001204184.1:intron;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3683186;ESP6500_GTC=0,2,14,184,1287,4772;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.186+7del1,NM_005427.3:c.186+6_186+7insG,NM_001204188.1:c.186+7del1,NM_001204188.1:c.186+6_186+7insG,NM_001204187.1:c.186+7del1,NM_001204187.1:c.186+6_186+7insG,NM_001204186.1:c.186+7del1,NM_001204186.1:c.186+6_186+7insG,NM_001204185.1:c.186+7del1,NM_001204185.1:c.186+6_186+7insG,NM_001204184.1:c.186+7del1,NM_001204184.1:c.186+6_186+7insG;ESP6500_MAF=5.4398,28.7054,13.3648;ESP6500_TAC=16,1657,10845	GT:AD:DP:GQ:PL	0/1:16,22:38:99:571,0,383
chr1	3690956	rs3765730	G	A	496.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.42;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-0.636;SOR=0.703;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765730;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|3/13|c.186+7776G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|3/12|c.186+7776G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|3/12|c.186+7776G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|3/10|c.186+7776G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|3/11|c.186+7776G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|3/11|c.186+7776G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|1/11|c.39+12G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|1/10|c.39+12G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|1/10|c.39+12G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|1/8|c.39+12G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|1/9|c.39+12G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|1/9|c.39+12G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1186;p3_1000G_AF=0.236821;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=16646;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.3797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3607520;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=223,2891;ESP6500_AA_GTC=14,195,1348;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=20;ESP6500_EA_AC=2484,4644;ESP6500_EA_GTC=435,1614,1515;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:intron,NM_001204191.1:intron,NM_001204190.1:intron,NM_001204189.1:intron,NM_001204188.1:intron,NM_001204187.1:intron,NM_001204186.1:intron,NM_001204185.1:intron,NM_001204184.1:intron,NM_001126242.2:intron,NM_001126241.2:intron,NM_001126240.2:intron;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3690956;ESP6500_GTC=449,1809,2863;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.186+7776G>A,NM_001204191.1:c.39+12G>A,NM_001204190.1:c.39+12G>A,NM_001204189.1:c.39+12G>A,NM_001204188.1:c.186+7776G>A,NM_001204187.1:c.186+7776G>A,NM_001204186.1:c.186+7776G>A,NM_001204185.1:c.186+7776G>A,NM_001204184.1:c.186+7776G>A,NM_001126242.2:c.39+12G>A,NM_001126241.2:c.39+12G>A,NM_001126240.2:c.39+12G>A;ESP6500_MAF=34.8485,7.1612,26.4304;ESP6500_TAC=2707,7535	GT:AD:DP:GQ:PL	0/1:43,26:69:99:525,0,1161
chr1	3722110	rs1801174	C	T	3733.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=129;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.17;SOR=0.79;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1801174;dbSNPBuildID=89;ANN=T|structural_interaction_variant|HIGH|TP73|TP73|interaction|2XWC:A_173-A_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:A_173-A_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:B_173-B_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:D_173-D_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:J_173-J_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:K_173-K_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:L_173-L_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:A_173-A_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:B_173-B_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:D_173-D_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_278:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:A_173-A_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:C_173-C_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:E_173-E_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:G_173-G_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:I_173-I_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:K_173-K_240:NM_005427.3|protein_coding|5/14|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|2XWC:A_173-A_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:A_173-A_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:B_173-B_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:D_173-D_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:J_173-J_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:K_173-K_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:L_173-L_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:A_173-A_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:B_173-B_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:D_173-D_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_278:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:A_173-A_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:C_173-C_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:E_173-E_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:G_173-G_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:I_173-I_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:K_173-K_240:NM_001204184.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|2XWC:A_173-A_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:A_173-A_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:B_173-B_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:D_173-D_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:J_173-J_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:K_173-K_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:L_173-L_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:A_173-A_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:B_173-B_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:D_173-D_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_278:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:A_173-A_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:C_173-C_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:E_173-E_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:G_173-G_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:I_173-I_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:K_173-K_240:NM_001204185.1|protein_coding|5/13|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|2XWC:A_173-A_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:A_173-A_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:B_173-B_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:D_173-D_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:J_173-J_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:K_173-K_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:L_173-L_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:A_173-A_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:B_173-B_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:D_173-D_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_278:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:A_173-A_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:C_173-C_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:E_173-E_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:G_173-G_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:I_173-I_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:K_173-K_240:NM_001204186.1|protein_coding|5/11|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|2XWC:A_173-A_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:A_173-A_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:B_173-B_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:D_173-D_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:J_173-J_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:K_173-K_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:L_173-L_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:A_173-A_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:B_173-B_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:D_173-D_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_278:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:A_173-A_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:C_173-C_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:E_173-E_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:G_173-G_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:I_173-I_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:K_173-K_240:NM_001204187.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|2XWC:A_173-A_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:A_173-A_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:B_173-B_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:C_173-C_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:D_173-D_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:J_173-J_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:K_173-K_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD0:L_173-L_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:A_173-A_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:B_173-B_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:C_173-C_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:D_173-D_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:K_173-K_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|3VD1:L_173-L_278:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:A_173-A_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:C_173-C_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:E_173-E_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:G_173-G_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:I_173-I_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|structural_interaction_variant|HIGH|TP73|TP73|interaction|4A63:K_173-K_240:NM_001204188.1|protein_coding|5/12|c.519C>T||||||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_005427.3|protein_coding|5/14|c.519C>T|p.Thr173Thr|629/5143|519/1911|173/636||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204184.1|protein_coding|5/13|c.519C>T|p.Thr173Thr|629/5049|519/1500|173/499||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204185.1|protein_coding|5/13|c.519C>T|p.Thr173Thr|629/4994|519/1428|173/475||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204186.1|protein_coding|5/11|c.519C>T|p.Thr173Thr|629/4761|519/1212|173/403||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204187.1|protein_coding|5/12|c.519C>T|p.Thr173Thr|629/4900|519/1668|173/555||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204188.1|protein_coding|5/12|c.519C>T|p.Thr173Thr|629/4855|519/1623|173/540||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126240.2|protein_coding|3/12|c.372C>T|p.Thr124Thr|606/5120|372/1764|124/587||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126241.2|protein_coding|3/11|c.372C>T|p.Thr124Thr|606/5026|372/1353|124/450||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126242.2|protein_coding|3/11|c.372C>T|p.Thr124Thr|606/4971|372/1281|124/426||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204189.1|protein_coding|3/9|c.372C>T|p.Thr124Thr|606/4738|372/1065|124/354||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204190.1|protein_coding|3/10|c.372C>T|p.Thr124Thr|606/4877|372/1521|124/506||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204191.1|protein_coding|3/10|c.372C>T|p.Thr124Thr|606/4832|372/1476|124/491||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204192.1|protein_coding|3/12|c.306C>T|p.Thr102Thr|439/4953|306/1698|102/565||;p3_1000G_AA=C|||;p3_1000G_AC=3686;p3_1000G_AF=0.736022;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=16951;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.9135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3638674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3401,1001;ESP6500_AA_AGE=725.7+/-409.6;ESP6500_AA_GTC=1311,779,111;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204192.1:1698,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=-4.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=85;ESP6500_EA_AC=7642,956;ESP6500_EA_AGE=773.0+/-407.7;ESP6500_EA_GTC=3396,850,53;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:coding-synonymous,NM_001204192.1:coding-synonymous,NM_001204191.1:coding-synonymous,NM_001204190.1:coding-synonymous,NM_001204189.1:coding-synonymous,NM_001204188.1:coding-synonymous,NM_001204187.1:coding-synonymous,NM_001204186.1:coding-synonymous,NM_001204185.1:coding-synonymous,NM_001204184.1:coding-synonymous,NM_001126242.2:coding-synonymous,NM_001126241.2:coding-synonymous,NM_001126240.2:coding-synonymous;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3722110;ESP6500_GTC=4707,1629,164;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.519C>T,NM_001204192.1:c.306C>T,NM_001204191.1:c.372C>T,NM_001204190.1:c.372C>T,NM_001204189.1:c.372C>T,NM_001204188.1:c.519C>T,NM_001204187.1:c.519C>T,NM_001204186.1:c.519C>T,NM_001204185.1:c.519C>T,NM_001204184.1:c.519C>T,NM_001126242.2:c.372C>T,NM_001126241.2:c.372C>T,NM_001126240.2:c.372C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005427.3:p.(T173),NM_001204192.1:p.(T102),NM_001204191.1:p.(T124),NM_001204190.1:p.(T124),NM_001204189.1:p.(T124),NM_001204188.1:p.(T173),NM_001204187.1:p.(T173),NM_001204186.1:p.(T173),NM_001204185.1:p.(T173),NM_001204184.1:p.(T173),NM_001126242.2:p.(T124),NM_001126241.2:p.(T124),NM_001126240.2:p.(T124);ESP6500_MAF=11.1189,22.7397,15.0538;ESP6500_TAC=11043,1957	GT:AD:DP:GQ:PL	1/1:0,128:128:99:3762,384,0
chr1	3723521	rs6424091	C	G	238.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6424091;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|6/13|c.732+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|6/12|c.732+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|6/12|c.732+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|6/10|c.732+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|6/11|c.732+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|6/11|c.732+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|4/11|c.585+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|4/10|c.585+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|4/10|c.585+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|4/8|c.585+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|4/9|c.585+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|4/9|c.585+52C>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204192.1|protein_coding|4/11|c.519+52C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3689;p3_1000G_AF=0.736621;p3_1000G_AFR_AF=0.8707;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=14591;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.8638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3640085;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2258,380;ESP6500_AA_GTC=976,306,37;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204192.1:1698,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=9;ESP6500_EA_AC=3799,783;ESP6500_EA_GTC=1588,623,80;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:intron,NM_001204192.1:intron,NM_001204191.1:intron,NM_001204190.1:intron,NM_001204189.1:intron,NM_001204188.1:intron,NM_001204187.1:intron,NM_001204186.1:intron,NM_001204185.1:intron,NM_001204184.1:intron,NM_001126242.2:intron,NM_001126241.2:intron,NM_001126240.2:intron;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3723521;ESP6500_GTC=2564,929,117;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.732+52C>G,NM_001204192.1:c.519+52C>G,NM_001204191.1:c.585+52C>G,NM_001204190.1:c.585+52C>G,NM_001204189.1:c.585+52C>G,NM_001204188.1:c.732+52C>G,NM_001204187.1:c.732+52C>G,NM_001204186.1:c.732+52C>G,NM_001204185.1:c.732+52C>G,NM_001204184.1:c.732+52C>G,NM_001126242.2:c.585+52C>G,NM_001126241.2:c.585+52C>G,NM_001126240.2:c.585+52C>G;ESP6500_MAF=17.0886,14.4049,16.108;ESP6500_TAC=6057,1163	GT:AD:DP:GQ:PL	1/1:0,8:8:24:267,24,0
chr1	3723570	rs35939665;rs59901813;rs754438858;rs757817816	TCTGC	T	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35939665,rs59901813;dbSNPBuildID=134,144,144,129;ANN=T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|6/13|c.732+109_732+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|6/12|c.732+109_732+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|6/12|c.732+109_732+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|6/10|c.732+109_732+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|6/11|c.732+109_732+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|6/11|c.732+109_732+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|4/11|c.585+109_585+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|4/10|c.585+109_585+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|4/10|c.585+109_585+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|4/8|c.585+109_585+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|4/9|c.585+109_585+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|4/9|c.585+109_585+112delCCTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204192.1|protein_coding|4/11|c.519+109_519+112delCCTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3573;p3_1000G_AF=0.713458;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=15165;p3_1000G_EAS_AF=0.5486;p3_1000G_EUR_AF=0.8638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3640134;p3_1000G_GRCH37_REF=TCTGC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0
chr1	3728151	rs12046074	C	T	1372.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=1.203;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12046074;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|TP73|TP73|transcript|NM_005427.3|protein_coding|9/14|c.1008C>T|p.Ala336Ala|1118/5143|1008/1911|336/636||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204184.1|protein_coding|9/13|c.1008C>T|p.Ala336Ala|1118/5049|1008/1500|336/499||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204185.1|protein_coding|9/13|c.1008C>T|p.Ala336Ala|1118/4994|1008/1428|336/475||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204186.1|protein_coding|9/11|c.1008C>T|p.Ala336Ala|1118/4761|1008/1212|336/403||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204187.1|protein_coding|9/12|c.1008C>T|p.Ala336Ala|1118/4900|1008/1668|336/555||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204188.1|protein_coding|9/12|c.1008C>T|p.Ala336Ala|1118/4855|1008/1623|336/540||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126240.2|protein_coding|7/12|c.861C>T|p.Ala287Ala|1095/5120|861/1764|287/587||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126241.2|protein_coding|7/11|c.861C>T|p.Ala287Ala|1095/5026|861/1353|287/450||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126242.2|protein_coding|7/11|c.861C>T|p.Ala287Ala|1095/4971|861/1281|287/426||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204189.1|protein_coding|7/9|c.861C>T|p.Ala287Ala|1095/4738|861/1065|287/354||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204190.1|protein_coding|7/10|c.861C>T|p.Ala287Ala|1095/4877|861/1521|287/506||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204191.1|protein_coding|7/10|c.861C>T|p.Ala287Ala|1095/4832|861/1476|287/491||,T|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204192.1|protein_coding|7/12|c.795C>T|p.Ala265Ala|928/4953|795/1698|265/565||;p3_1000G_AA=C|||;p3_1000G_AC=393;p3_1000G_AF=0.0784744;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=16860;p3_1000G_EAS_AF=0.2163;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3644715;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=310,4096;ESP6500_AA_AGE=164.7+/-196.3;ESP6500_AA_GTC=13,284,1906;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204192.1:1698,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=69;ESP6500_EA_AC=341,8259;ESP6500_EA_AGE=115.5+/-175.4;ESP6500_EA_GTC=7,327,3966;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:coding-synonymous,NM_001204192.1:coding-synonymous,NM_001204191.1:coding-synonymous,NM_001204190.1:coding-synonymous,NM_001204189.1:coding-synonymous,NM_001204188.1:coding-synonymous,NM_001204187.1:coding-synonymous,NM_001204186.1:coding-synonymous,NM_001204185.1:coding-synonymous,NM_001204184.1:coding-synonymous,NM_001126242.2:coding-synonymous,NM_001126241.2:coding-synonymous,NM_001126240.2:coding-synonymous;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3728151;ESP6500_GTC=20,611,5872;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.1008C>T,NM_001204192.1:c.795C>T,NM_001204191.1:c.861C>T,NM_001204190.1:c.861C>T,NM_001204189.1:c.861C>T,NM_001204188.1:c.1008C>T,NM_001204187.1:c.1008C>T,NM_001204186.1:c.1008C>T,NM_001204185.1:c.1008C>T,NM_001204184.1:c.1008C>T,NM_001126242.2:c.861C>T,NM_001126241.2:c.861C>T,NM_001126240.2:c.861C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005427.3:p.(A336),NM_001204192.1:p.(A265),NM_001204191.1:p.(A287),NM_001204190.1:p.(A287),NM_001204189.1:p.(A287),NM_001204188.1:p.(A336),NM_001204187.1:p.(A336),NM_001204186.1:p.(A336),NM_001204185.1:p.(A336),NM_001204184.1:p.(A336),NM_001126242.2:p.(A287),NM_001126241.2:p.(A287),NM_001126240.2:p.(A287);ESP6500_MAF=3.9651,7.0359,5.0054;ESP6500_TAC=651,12355	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1401,138,0
chr1	3728190	rs12048341	T	C	1670.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.38;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12048341;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|TP73|TP73|transcript|NM_005427.3|protein_coding|9/14|c.1047T>C|p.His349His|1157/5143|1047/1911|349/636||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204184.1|protein_coding|9/13|c.1047T>C|p.His349His|1157/5049|1047/1500|349/499||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204185.1|protein_coding|9/13|c.1047T>C|p.His349His|1157/4994|1047/1428|349/475||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204186.1|protein_coding|9/11|c.1047T>C|p.His349His|1157/4761|1047/1212|349/403||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204187.1|protein_coding|9/12|c.1047T>C|p.His349His|1157/4900|1047/1668|349/555||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204188.1|protein_coding|9/12|c.1047T>C|p.His349His|1157/4855|1047/1623|349/540||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126240.2|protein_coding|7/12|c.900T>C|p.His300His|1134/5120|900/1764|300/587||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126241.2|protein_coding|7/11|c.900T>C|p.His300His|1134/5026|900/1353|300/450||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126242.2|protein_coding|7/11|c.900T>C|p.His300His|1134/4971|900/1281|300/426||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204189.1|protein_coding|7/9|c.900T>C|p.His300His|1134/4738|900/1065|300/354||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204190.1|protein_coding|7/10|c.900T>C|p.His300His|1134/4877|900/1521|300/506||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204191.1|protein_coding|7/10|c.900T>C|p.His300His|1134/4832|900/1476|300/491||,C|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204192.1|protein_coding|7/12|c.834T>C|p.His278His|967/4953|834/1698|278/565||;p3_1000G_AA=T|||;p3_1000G_AC=551;p3_1000G_AF=0.110024;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=17261;p3_1000G_EAS_AF=0.2163;p3_1000G_EUR_AF=0.0308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3644754;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=778,3628;ESP6500_AA_AGE=313.3+/-293.0;ESP6500_AA_GTC=82,614,1507;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204192.1:1698,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=-6.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=88;ESP6500_EA_AC=348,8252;ESP6500_EA_AGE=118.3+/-177.8;ESP6500_EA_GTC=7,334,3959;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:coding-synonymous,NM_001204192.1:coding-synonymous,NM_001204191.1:coding-synonymous,NM_001204190.1:coding-synonymous,NM_001204189.1:coding-synonymous,NM_001204188.1:coding-synonymous,NM_001204187.1:coding-synonymous,NM_001204186.1:coding-synonymous,NM_001204185.1:coding-synonymous,NM_001204184.1:coding-synonymous,NM_001126242.2:coding-synonymous,NM_001126241.2:coding-synonymous,NM_001126240.2:coding-synonymous;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3728190;ESP6500_GTC=89,948,5466;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.1047T>C,NM_001204192.1:c.834T>C,NM_001204191.1:c.900T>C,NM_001204190.1:c.900T>C,NM_001204189.1:c.900T>C,NM_001204188.1:c.1047T>C,NM_001204187.1:c.1047T>C,NM_001204186.1:c.1047T>C,NM_001204185.1:c.1047T>C,NM_001204184.1:c.1047T>C,NM_001126242.2:c.900T>C,NM_001126241.2:c.900T>C,NM_001126240.2:c.900T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005427.3:p.(H349),NM_001204192.1:p.(H278),NM_001204191.1:p.(H300),NM_001204190.1:p.(H300),NM_001204189.1:p.(H300),NM_001204188.1:p.(H349),NM_001204187.1:p.(H349),NM_001204186.1:p.(H349),NM_001204185.1:p.(H349),NM_001204184.1:p.(H349),NM_001126242.2:p.(H300),NM_001126241.2:p.(H300),NM_001126240.2:p.(H300);ESP6500_MAF=4.0465,17.6577,8.6575;ESP6500_TAC=1126,11880	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1699,165,0
chr1	3728241	rs2236366	A	G	1578.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=0.808;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236366;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|9/13|c.1074+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|9/12|c.1074+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|9/12|c.1074+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|9/10|c.1074+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|9/11|c.1074+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|9/11|c.1074+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|7/11|c.927+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|7/10|c.927+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|7/10|c.927+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|7/8|c.927+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|7/9|c.927+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|7/9|c.927+24A>G||||||,G|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204192.1|protein_coding|7/11|c.861+24A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1568;p3_1000G_AF=0.313099;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=17185;p3_1000G_EAS_AF=0.2817;p3_1000G_EUR_AF=0.1083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3644805;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2463,1935;ESP6500_AA_AGE=530.3+/-372.9;ESP6500_AA_GTC=697,1069,433;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204192.1:1698,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=46;ESP6500_EA_AC=846,7754;ESP6500_EA_AGE=772.7+/-407.7;ESP6500_EA_GTC=47,752,3501;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:intron,NM_001204192.1:intron,NM_001204191.1:intron,NM_001204190.1:intron,NM_001204189.1:intron,NM_001204188.1:intron,NM_001204187.1:intron,NM_001204186.1:intron,NM_001204185.1:intron,NM_001204184.1:intron,NM_001126242.2:intron,NM_001126241.2:intron,NM_001126240.2:intron;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3728241;ESP6500_GTC=744,1821,3934;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.1074+24A>G,NM_001204192.1:c.861+24A>G,NM_001204191.1:c.927+24A>G,NM_001204190.1:c.927+24A>G,NM_001204189.1:c.927+24A>G,NM_001204188.1:c.1074+24A>G,NM_001204187.1:c.1074+24A>G,NM_001204186.1:c.1074+24A>G,NM_001204185.1:c.1074+24A>G,NM_001204184.1:c.1074+24A>G,NM_001126242.2:c.927+24A>G,NM_001126241.2:c.927+24A>G,NM_001126240.2:c.927+24A>G;ESP6500_MAF=9.8372,43.9973,25.4578;ESP6500_TAC=3309,9689	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1607,159,0
chr1	3729280	rs2096224	G	A	512.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2096224;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|9/13|c.1075-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|9/12|c.1075-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|9/12|c.1075-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|9/10|c.1075-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|9/11|c.1075-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|9/11|c.1075-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|7/11|c.928-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|7/10|c.928-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|7/10|c.928-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|7/8|c.928-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|7/9|c.928-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|7/9|c.928-47G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204192.1|protein_coding|7/11|c.862-47G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2703;p3_1000G_AF=0.539736;p3_1000G_AFR_AF=0.4062;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=17931;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.7853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3645844;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2107,2299;ESP6500_AA_GTC=526,1055,622;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204192.1:1698,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=33;ESP6500_EA_AC=6646,1950;ESP6500_EA_GTC=2575,1496,227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:intron,NM_001204192.1:intron,NM_001204191.1:intron,NM_001204190.1:intron,NM_001204189.1:intron,NM_001204188.1:intron,NM_001204187.1:intron,NM_001204186.1:intron,NM_001204185.1:intron,NM_001204184.1:intron,NM_001126242.2:intron,NM_001126241.2:intron,NM_001126240.2:intron;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3729280;ESP6500_GTC=3101,2551,849;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.1075-47G>A,NM_001204192.1:c.862-47G>A,NM_001204191.1:c.928-47G>A,NM_001204190.1:c.928-47G>A,NM_001204189.1:c.928-47G>A,NM_001204188.1:c.1075-47G>A,NM_001204187.1:c.1075-47G>A,NM_001204186.1:c.1075-47G>A,NM_001204185.1:c.1075-47G>A,NM_001204184.1:c.1075-47G>A,NM_001126242.2:c.928-47G>A,NM_001126241.2:c.928-47G>A,NM_001126240.2:c.928-47G>A;ESP6500_MAF=22.685,47.8212,32.6796;ESP6500_TAC=8753,4249	GT:AD:DP:GQ:PL	1/1:0,16:16:48:541,48,0
chr1	3730855	rs41301973	G	A	962.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=2.694;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41301973;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|11/13|c.1346-72G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|11/12|c.1346-72G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|10/12|c.1197-72G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|10/10|c.1196+1407G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|10/11|c.1197-72G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|10/11|c.1197-608G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|9/11|c.1199-72G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|9/10|c.1199-72G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|8/10|c.1050-72G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|8/8|c.1049+1407G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|8/9|c.1050-72G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|8/9|c.1050-608G>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204192.1|protein_coding|9/11|c.1133-72G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=542;p3_1000G_AF=0.108227;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=17496;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.0308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3647419;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:991,93,0
chr1	3731313	rs7517037	T	C	298.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7517037;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033711.1|pseudogene||n.*4671A>G|||||4671|,C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033712.1|pseudogene||n.*4671A>G|||||4671|,C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033708.1|pseudogene||n.*4671A>G|||||4671|,C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033709.1|pseudogene||n.*4671A>G|||||4671|,C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033710.1|pseudogene||n.*4671A>G|||||4671|,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|12/13|c.1485-150T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|12/12|c.1484+248T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|11/12|c.1336-150T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|10/10|c.1197-1434T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|11/11|c.1335+248T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|10/11|c.1197-150T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|10/11|c.1338-150T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|10/10|c.1337+248T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|9/10|c.1189-150T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|8/8|c.1050-1434T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|9/9|c.1188+248T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|8/9|c.1050-150T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204192.1|protein_coding|10/11|c.1272-150T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=667;p3_1000G_AF=0.133187;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=16477;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.0308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3647877;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:327,27,0
chr1	3731380	rs12569205	C	A	414.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12569205;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033711.1|pseudogene||n.*4604G>T|||||4604|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033712.1|pseudogene||n.*4604G>T|||||4604|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033708.1|pseudogene||n.*4604G>T|||||4604|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033709.1|pseudogene||n.*4604G>T|||||4604|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033710.1|pseudogene||n.*4604G>T|||||4604|,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|12/13|c.1485-83C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|12/12|c.1484+315C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|11/12|c.1336-83C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|10/10|c.1197-1367C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|11/11|c.1335+315C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|10/11|c.1197-83C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|10/11|c.1338-83C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|10/10|c.1337+315C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|9/10|c.1189-83C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|8/8|c.1050-1367C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|9/9|c.1188+315C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|8/9|c.1050-83C>A||||||,A|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204192.1|protein_coding|10/11|c.1272-83C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=244;p3_1000G_AF=0.048722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=16846;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3647944;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:443,36,0
chr1	3731398	rs1745813	T	C	468.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1745813;dbSNPBuildID=89;ANN=C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033711.1|pseudogene||n.*4586A>G|||||4586|,C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033712.1|pseudogene||n.*4586A>G|||||4586|,C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033708.1|pseudogene||n.*4586A>G|||||4586|,C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033709.1|pseudogene||n.*4586A>G|||||4586|,C|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033710.1|pseudogene||n.*4586A>G|||||4586|,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_005427.3|protein_coding|12/13|c.1485-65T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|12/12|c.1484+333T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|11/12|c.1336-65T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|10/10|c.1197-1349T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204187.1|protein_coding|11/11|c.1335+333T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204188.1|protein_coding|10/11|c.1197-65T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126240.2|protein_coding|10/11|c.1338-65T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|10/10|c.1337+333T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|9/10|c.1189-65T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|8/8|c.1050-1349T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204190.1|protein_coding|9/9|c.1188+333T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204191.1|protein_coding|8/9|c.1050-65T>C||||||,C|intron_variant|MODIFIER|TP73|TP73|transcript|NM_001204192.1|protein_coding|10/11|c.1272-65T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2752;p3_1000G_AF=0.549521;p3_1000G_AFR_AF=0.4077;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=17452;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3647962;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:497,39,0
chr1	3732839	rs61735051	G	A	2558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=1.583;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61735051;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|TP73|TP73|transcript|NM_005427.3|protein_coding|14/14|c.1671G>A|p.Ala557Ala|1781/5143|1671/1911|557/636||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204187.1|protein_coding|12/12|c.1428G>A|p.Ala476Ala|1538/4900|1428/1668|476/555||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204188.1|protein_coding|12/12|c.1383G>A|p.Ala461Ala|1493/4855|1383/1623|461/540||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126240.2|protein_coding|12/12|c.1524G>A|p.Ala508Ala|1758/5120|1524/1764|508/587||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204190.1|protein_coding|10/10|c.1281G>A|p.Ala427Ala|1515/4877|1281/1521|427/506||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204191.1|protein_coding|10/10|c.1236G>A|p.Ala412Ala|1470/4832|1236/1476|412/491||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204192.1|protein_coding|12/12|c.1458G>A|p.Ala486Ala|1591/4953|1458/1698|486/565||,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|13/13|c.*77G>A|||||77|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|13/13|c.*94G>A|||||1284|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|11/11|c.*77G>A|||||77|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|11/11|c.*77G>A|||||77|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|11/11|c.*94G>A|||||1284|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|9/9|c.*77G>A|||||77|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033711.1|pseudogene||n.*3145C>T|||||3145|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033712.1|pseudogene||n.*3145C>T|||||3145|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033708.1|pseudogene||n.*3145C>T|||||3145|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033709.1|pseudogene||n.*3145C>T|||||3145|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033710.1|pseudogene||n.*3145C>T|||||3145|;p3_1000G_AA=G|||;p3_1000G_AC=286;p3_1000G_AF=0.0571086;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=14340;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.0308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3649403;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=35,4363;ESP6500_AA_GTC=1,33,2165;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204192.1:1698,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=27;ESP6500_EA_AC=341,8235;ESP6500_EA_GTC=6,329,3953;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:coding-synonymous,NM_001204192.1:coding-synonymous,NM_001204191.1:coding-synonymous,NM_001204190.1:coding-synonymous,NM_001204189.1:utr-3,NM_001204188.1:coding-synonymous,NM_001204187.1:coding-synonymous,NM_001204186.1:utr-3,NM_001204185.1:utr-3,NM_001204184.1:utr-3,NM_001126242.2:utr-3,NM_001126241.2:utr-3,NM_001126240.2:coding-synonymous;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3732839;ESP6500_GTC=7,362,6118;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.1671G>A,NM_001204192.1:c.1458G>A,NM_001204191.1:c.1236G>A,NM_001204190.1:c.1281G>A,NM_001204189.1:c.*77G>A,NM_001204188.1:c.1383G>A,NM_001204187.1:c.1428G>A,NM_001204186.1:c.*77G>A,NM_001204185.1:c.*1284G>A,NM_001204184.1:c.*77G>A,NM_001126242.2:c.*1284G>A,NM_001126241.2:c.*77G>A,NM_001126240.2:c.1524G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005427.3:p.(A557),NM_001204192.1:p.(A486),NM_001204191.1:p.(A412),NM_001204190.1:p.(A427),.,NM_001204188.1:p.(A461),NM_001204187.1:p.(A476),.,.,.,.,.,NM_001126240.2:p.(A508);ESP6500_MAF=3.9762,0.7958,2.8981;ESP6500_TAC=376,12598	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2587,261,0
chr1	3732998	rs9662633	G	A	2643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=1.367;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9662633;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|TP73|TP73|transcript|NM_005427.3|protein_coding|14/14|c.1830G>A|p.Ala610Ala|1940/5143|1830/1911|610/636||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204187.1|protein_coding|12/12|c.1587G>A|p.Ala529Ala|1697/4900|1587/1668|529/555||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204188.1|protein_coding|12/12|c.1542G>A|p.Ala514Ala|1652/4855|1542/1623|514/540||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001126240.2|protein_coding|12/12|c.1683G>A|p.Ala561Ala|1917/5120|1683/1764|561/587||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204190.1|protein_coding|10/10|c.1440G>A|p.Ala480Ala|1674/4877|1440/1521|480/506||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204191.1|protein_coding|10/10|c.1395G>A|p.Ala465Ala|1629/4832|1395/1476|465/491||,A|synonymous_variant|LOW|TP73|TP73|transcript|NM_001204192.1|protein_coding|12/12|c.1617G>A|p.Ala539Ala|1750/4953|1617/1698|539/565||,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001204184.1|protein_coding|13/13|c.*236G>A|||||236|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001204185.1|protein_coding|13/13|c.*253G>A|||||1443|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001204186.1|protein_coding|11/11|c.*236G>A|||||236|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001126241.2|protein_coding|11/11|c.*236G>A|||||236|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001126242.2|protein_coding|11/11|c.*253G>A|||||1443|,A|3_prime_UTR_variant|MODIFIER|TP73|TP73|transcript|NM_001204189.1|protein_coding|9/9|c.*236G>A|||||236|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033711.1|pseudogene||n.*2986C>T|||||2986|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033712.1|pseudogene||n.*2986C>T|||||2986|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033708.1|pseudogene||n.*2986C>T|||||2986|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033709.1|pseudogene||n.*2986C>T|||||2986|,A|downstream_gene_variant|MODIFIER|TP73-AS1|TP73-AS1|transcript|NR_033710.1|pseudogene||n.*2986C>T|||||2986|;p3_1000G_AA=g|||;p3_1000G_AC=540;p3_1000G_AF=0.107827;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=13381;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.0308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3649562;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=642,3678;ESP6500_AA_GTC=43,556,1561;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22589738;ESP6500_CDS_SIZES=NM_005427.3:1911,NM_001204192.1:1698,NM_001204191.1:1476,NM_001204190.1:1521,NM_001204189.1:1065,NM_001204188.1:1623,NM_001204187.1:1668,NM_001204186.1:1212,NM_001204185.1:1428,NM_001204184.1:1500,NM_001126242.2:1281,NM_001126241.2:1353,NM_001126240.2:1764;ESP6500_CG=-8.8;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=17;ESP6500_EA_AC=329,8159;ESP6500_EA_GTC=5,319,3920;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005427.3:coding-synonymous,NM_001204192.1:coding-synonymous,NM_001204191.1:coding-synonymous,NM_001204190.1:coding-synonymous,NM_001204189.1:utr-3,NM_001204188.1:coding-synonymous,NM_001204187.1:coding-synonymous,NM_001204186.1:utr-3,NM_001204185.1:utr-3,NM_001204184.1:utr-3,NM_001126242.2:utr-3,NM_001126241.2:utr-3,NM_001126240.2:coding-synonymous;ESP6500_GL=TP73;ESP6500_GRCh38_POSITION=1:3732998;ESP6500_GTC=48,875,5481;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22589738;ESP6500_HGVS_CDNA_VAR=NM_005427.3:c.1830G>A,NM_001204192.1:c.1617G>A,NM_001204191.1:c.1395G>A,NM_001204190.1:c.1440G>A,NM_001204189.1:c.*236G>A,NM_001204188.1:c.1542G>A,NM_001204187.1:c.1587G>A,NM_001204186.1:c.*236G>A,NM_001204185.1:c.*1443G>A,NM_001204184.1:c.*236G>A,NM_001126242.2:c.*1443G>A,NM_001126241.2:c.*236G>A,NM_001126240.2:c.1683G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005427.3:p.(A610),NM_001204192.1:p.(A539),NM_001204191.1:p.(A465),NM_001204190.1:p.(A480),.,NM_001204188.1:p.(A514),NM_001204187.1:p.(A529),.,.,.,.,.,NM_001126240.2:p.(A561);ESP6500_MAF=3.8761,14.8611,7.5812;ESP6500_TAC=971,11837	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2672,246,0
chr1	3752637	rs10797410	A	G	4384.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=0.775;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10797410;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|CCDC27|CCDC27|transcript|NM_152492.2|protein_coding|1/12|c.156A>G|p.Pro52Pro|237/2174|156/1971|52/656||;p3_1000G_AA=a|||;p3_1000G_AC=2549;p3_1000G_AF=0.508986;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=17754;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3669201;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3279,1127;ESP6500_AA_AGE=717.7+/-408.7;ESP6500_AA_GTC=1241,797,165;ESP6500_CDS_SIZES=NM_152492.2:1971;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=121;ESP6500_EA_AC=3194,5406;ESP6500_EA_AGE=484.1+/-371.3;ESP6500_EA_GTC=596,2002,1702;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152492.2:coding-synonymous;ESP6500_GL=CCDC27;ESP6500_GRCh38_POSITION=1:3752637;ESP6500_GTC=1837,2799,1867;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152492.2:c.156A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152492.2:p.(P52);ESP6500_MAF=37.1395,25.5788,49.7693;ESP6500_TAC=6473,6533	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,100:100:99:1|1:3752637_A_G:4413,301,0
chr1	3752641	rs10910021	C	G	4359.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.95;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10910021;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|CCDC27|CCDC27|transcript|NM_152492.2|protein_coding|1/12|c.160C>G|p.Gln54Glu|241/2174|160/1971|54/656||;p3_1000G_AA=G|||;p3_1000G_AC=1939;p3_1000G_AF=0.387181;p3_1000G_AFR_AF=0.4017;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=17772;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.3946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3669205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1728,2678;ESP6500_AA_AGE=648.5+/-398.7;ESP6500_AA_GTC=345,1038,820;ESP6500_CDS_SIZES=NM_152492.2:1971;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=119;ESP6500_EA_AC=3176,5424;ESP6500_EA_AGE=653.6+/-401.1;ESP6500_EA_GTC=589,1998,1713;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152492.2:missense;ESP6500_GL=CCDC27;ESP6500_GRCh38_POSITION=1:3752641;ESP6500_GS=29;ESP6500_GTC=934,3036,2533;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152492.2:c.160C>G;ESP6500_HGVS_PROTEIN_VAR=NM_152492.2:p.(Q54E);ESP6500_MAF=36.9302,39.2192,37.7057;ESP6500_PH=benign:0.0;ESP6500_TAC=4904,8102	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,97:97:99:1|1:3752637_A_G:4388,298,0
chr1	3754088	rs149705892;rs368281276	TTGTC	T	1807.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=1.347;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs149705892,rs368281276;dbSNPBuildID=134,138;ANN=T|intron_variant|MODIFIER|CCDC27|CCDC27|transcript|NM_152492.2|protein_coding|1/11|c.319-24_319-21delGTCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=339;p3_1000G_AF=0.0676917;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=17747;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.0249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3670652;p3_1000G_GRCH37_REF=TTGTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=INDEL;ESP6500_AA_AC=91,4175;ESP6500_AA_GTC=26,39,2068;ESP6500_CDS_SIZES=NM_152492.2:1971;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=80;ESP6500_EA_AC=307,7947;ESP6500_EA_GTC=13,281,3833;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152492.2:intron;ESP6500_GL=CCDC27;ESP6500_GRCh38_POSITION=1:3754088;ESP6500_GTC=39,320,5901;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_152492.2:c.319-29_319-26del4;ESP6500_MAF=3.7194,2.1331,3.1789;ESP6500_TAC=398,12122	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1845,123,0
chr1	3756932	rs4648405	T	G	765.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4648405;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CCDC27|CCDC27|transcript|NM_152492.2|protein_coding|4/11|c.711+42T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1415;p3_1000G_AF=0.282548;p3_1000G_AFR_AF=0.3033;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=15568;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3673496;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1319,3085;ESP6500_AA_GTC=193,933,1076;ESP6500_CDS_SIZES=NM_152492.2:1971;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=13;ESP6500_EA_AC=2354,6240;ESP6500_EA_GTC=333,1688,2276;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152492.2:intron;ESP6500_GL=CCDC27;ESP6500_GRCh38_POSITION=1:3756932;ESP6500_GTC=526,2621,3352;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_152492.2:c.711+42T>G;ESP6500_MAF=27.3912,29.95,28.2582;ESP6500_TAC=3673,9325	GT:AD:DP:GQ:PL	1/1:0,24:24:72:794,72,0
chr1	3761369	rs1181883	T	C	1222.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1181883;dbSNPBuildID=87;ANN=C|missense_variant|MODERATE|CCDC27|CCDC27|transcript|NM_152492.2|protein_coding|5/12|c.800T>C|p.Met267Thr|881/2174|800/1971|267/656||;p3_1000G_AA=C|||;p3_1000G_AC=2384;p3_1000G_AF=0.476038;p3_1000G_AFR_AF=0.6944;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=18850;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.4354;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3677933;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2721,1685;ESP6500_AA_AGE=508.9+/-367.1;ESP6500_AA_GTC=851,1019,333;ESP6500_CDS_SIZES=NM_152492.2:1971;ESP6500_CG=-1.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=78;ESP6500_EA_AC=3371,5229;ESP6500_EA_AGE=641.1+/-399.7;ESP6500_EA_GTC=666,2039,1595;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152492.2:missense;ESP6500_GL=CCDC27;ESP6500_GRCh38_POSITION=1:3761369;ESP6500_GS=81;ESP6500_GTC=1517,3058,1928;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152492.2:c.800T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152492.2:p.(M267T);ESP6500_MAF=39.1977,38.2433,46.8399;ESP6500_PH=benign:0.0;ESP6500_TAC=6092,6914	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1251,111,0
chr1	3762575	rs1181879	T	C	456.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.33;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1181879;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|CCDC27|CCDC27|transcript|NM_152492.2|protein_coding|5/11|c.862-45T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2589;p3_1000G_AF=0.516973;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=17775;p3_1000G_EAS_AF=0.2847;p3_1000G_EUR_AF=0.4563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3679139;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2807,1033;ESP6500_AA_GTC=1060,687,173;ESP6500_CDS_SIZES=NM_152492.2:1971;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=21;ESP6500_EA_AC=3326,3926;ESP6500_EA_GTC=795,1736,1095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152492.2:intron;ESP6500_GL=CCDC27;ESP6500_GRCh38_POSITION=1:3762575;ESP6500_GTC=1855,2423,1268;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152492.2:c.862-45T>C;ESP6500_MAF=45.8632,26.901,44.7079;ESP6500_TAC=6133,4959	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:39:1|1:3762575_T_C:485,39,0
chr1	3763769	rs75853003	C	T	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.94;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.834;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=1.13;SOR=0.774;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75853003;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|CCDC27|CCDC27|transcript|NM_152492.2|protein_coding|8/12|c.1385C>T|p.Thr462Met|1466/2174|1385/1971|462/656||;p3_1000G_AA=C|||;p3_1000G_AC=105;p3_1000G_AF=0.0209665;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=18637;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3680333;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=11.4+/-27.6;ESP6500_AA_GTC=0,6,2197;ESP6500_CDS_SIZES=NM_152492.2:1971;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=90;ESP6500_EA_AC=4,8596;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=0,4,4296;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152492.2:missense;ESP6500_GL=CCDC27;ESP6500_GRCh38_POSITION=1:3763769;ESP6500_GS=81;ESP6500_GTC=0,10,6493;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152492.2:c.1385C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152492.2:p.(T462M);ESP6500_MAF=0.0465,0.1362,0.0769;ESP6500_PH=benign:0.1;ESP6500_TAC=10,12996	GT:AD:DP:GQ:PL	0/1:11,12:23:99:326,0,268
chr1	3775676	rs2282455	T	C	295.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2282455;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|CCDC27|CCDC27|transcript|NM_152492.2|protein_coding||c.*4153T>C|||||4031|,C|downstream_gene_variant|MODIFIER|LRRC47|LRRC47|transcript|NM_020710.2|protein_coding||c.*5412A>G|||||4544|,C|intron_variant|MODIFIER|SMIM1|SMIM1|transcript|NM_001163724.2|protein_coding|3/3|c.111-119T>C||||||,C|intron_variant|MODIFIER|SMIM1|SMIM1|transcript|NM_001288583.1|protein_coding|3/3|c.111-119T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2375;p3_1000G_AF=0.474241;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=15309;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.4205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3692240;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:324,24,0
chr1	3786773	rs2368537	G	C	361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.29;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2368537;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LRRC47|LRRC47|transcript|NM_020710.2|protein_coding|2/6|c.1077+76C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2341;p3_1000G_AF=0.467452;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=17557;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.6481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3703337;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:390,30,0
chr1	3815401	rs12728401	G	A	792.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.729;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0.972;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=1.02;SOR=0.554;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12728401;dbSNPBuildID=121;ANN=A|3_prime_UTR_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|22/22|c.*1C>T|||||1|;p3_1000G_AA=G|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=18103;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.1412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3731965;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0859;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=603,3803;ESP6500_AA_AGE=253.7+/-259.5;ESP6500_AA_GTC=37,529,1637;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=2.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=54;ESP6500_EA_AC=1145,7453;ESP6500_EA_AGE=226.5+/-262.2;ESP6500_EA_GTC=82,981,3236;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:utr-3;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3815401;ESP6500_GTC=119,1510,4873;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.*1C>T;ESP6500_MAF=13.3171,13.6859,13.442;ESP6500_TAC=1748,11256	GT:AD:DP:GQ:PL	0/1:27,33:60:99:821,0,725
chr1	3815539	rs4648409	T	C	1201.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=1.552;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4648409;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|21/21|c.2663-22A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3289;p3_1000G_AF=0.656749;p3_1000G_AFR_AF=0.9145;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=16948;p3_1000G_EAS_AF=0.5734;p3_1000G_EUR_AF=0.5427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3732103;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3719,687;ESP6500_AA_GTC=1571,577,55;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=34;ESP6500_EA_AC=4770,3830;ESP6500_EA_GTC=1319,2132,849;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:intron;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3815539;ESP6500_GTC=2890,2709,904;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.2663-22A>G;ESP6500_MAF=44.5349,15.5924,34.7301;ESP6500_TAC=8489,4517	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1230,117,0
chr1	3815608	rs4233019	C	T	532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4233019;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|21/21|c.2663-91G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3289;p3_1000G_AF=0.656749;p3_1000G_AFR_AF=0.9145;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=17875;p3_1000G_EAS_AF=0.5734;p3_1000G_EUR_AF=0.5427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3732172;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:53:561,53,0
chr1	3816143	rs6702935	T	C	482.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6702935;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|21/21|c.2662+137A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3287;p3_1000G_AF=0.65635;p3_1000G_AFR_AF=0.9138;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=21265;p3_1000G_EAS_AF=0.5734;p3_1000G_EUR_AF=0.5427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3732707;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:511,42,0
chr1	3816218	rs6703035	T	C	1243.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.55;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6703035;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|21/21|c.2662+62A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3463;p3_1000G_AF=0.691494;p3_1000G_AFR_AF=0.9175;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=18713;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3732782;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1272,108,0
chr1	3825693	rs12759497	C	T	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.719;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.45;ReadPosRankSum=-1.497;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12759497;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|18/21|c.2364+65G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=705;p3_1000G_AF=0.140775;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=20883;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3742257;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:290,0,208
chr1	3825996	rs2275835	G	A	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.259;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.029;SOR=0.301;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275835;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|17/21|c.2256-130C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1196;p3_1000G_AF=0.238818;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=20275;p3_1000G_EAS_AF=0.5208;p3_1000G_EUR_AF=0.0567;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3742560;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:232,0,329
chr1	3826545	rs2275834	A	G	2204.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=4.443;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275834;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|16/21|c.2189-109T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3492;p3_1000G_AF=0.697284;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=18800;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.5706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3743109;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,59:59:99:1|1:3826545_A_G:2233,177,0
chr1	3826568	rs4648344	T	C	1303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.06;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=2.681;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=0.502;SOR=1.157;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648344;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|16/21|c.2189-132A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2114;p3_1000G_AF=0.422125;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=17976;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.4851;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3743132;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:46,35:81:99:0|1:3826545_A_G:1332,0,1867
chr1	3826587	rs4648345	G	A	1598.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.672;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=4.846;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-1.074;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4648345;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|16/21|c.2188+121C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=16796;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3743151;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:58,48:106:99:0|1:3826545_A_G:1627,0,2106
chr1	3826755	rs6663840	G	A	3776.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=116;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.692;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6663840;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|15/21|c.2152-11C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2371;p3_1000G_AF=0.473442;p3_1000G_AFR_AF=0.5741;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=19822;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3743319;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2360,2046;ESP6500_AA_AGE=566.7+/-382.0;ESP6500_AA_GTC=637,1086,480;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=119;ESP6500_EA_AC=2589,6011;ESP6500_EA_AGE=689.4+/-404.4;ESP6500_EA_GTC=418,1753,2129;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:intron;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3826755;ESP6500_GTC=1055,2839,2609;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.2152-11C>T;ESP6500_MAF=30.1047,46.4367,38.0517;ESP6500_TAC=4949,8057	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3805,348,0
chr1	3826827	rs6688969	C	T	781.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.554;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=7.551;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.215;SOR=3.023;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6688969;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|15/21|c.2152-83G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1648;p3_1000G_AF=0.329073;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=20481;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.2942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3743391;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=249,1135;ESP6500_AA_GTC=20,209,463;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=1.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=988,2194;ESP6500_EA_GTC=155,678,758;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:intron;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3826827;ESP6500_GTC=175,887,1221;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.2152-83G>A;ESP6500_MAF=31.0497,17.9913,27.0915;ESP6500_TAC=1237,3329	GT:AD:DP:GQ:PL	0/1:20,27:47:99:810,0,543
chr1	3826869	rs398102396;rs5772126	T	TG	924.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=4.332;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5772126;dbSNPBuildID=126,138;ANN=TG|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|15/21|c.2152-126dupC||||||;p3_1000G_AA=GGG|GG|GGG|deletion;p3_1000G_AC=4180;p3_1000G_AF=0.834665;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=19386;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.8877;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3743433;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,27:27:81:962,81,0
chr1	3829223	rs2275832	T	C	718.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275832;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|15/21|c.2151+43A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3494;p3_1000G_AF=0.697684;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=19169;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.5726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3745787;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3859,547;ESP6500_AA_AGE=246.8+/-255.3;ESP6500_AA_GTC=1691,477,35;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=69;ESP6500_EA_AC=4869,3731;ESP6500_EA_AGE=530.0+/-381.7;ESP6500_EA_GTC=1379,2111,810;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:intron;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3829223;ESP6500_GTC=3070,2588,845;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.2151+43A>G;ESP6500_MAF=43.3837,12.4149,32.8925;ESP6500_TAC=8728,4278	GT:AD:DP:GQ:PL	1/1:0,22:22:66:747,66,0
chr1	3829360	rs2275831	G	A	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.211;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.3;ReadPosRankSum=1.87;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275831;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|CEP104|CEP104|transcript|NM_014704.3|protein_coding|15/22|c.2057C>T|p.Ala686Val|2416/6458|2057/2778|686/925||;p3_1000G_AA=G|||;p3_1000G_AC=1054;p3_1000G_AF=0.210463;p3_1000G_AFR_AF=0.0802;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=17124;p3_1000G_EAS_AF=0.5208;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3745924;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=389,4017;ESP6500_AA_AGE=191.9+/-217.4;ESP6500_AA_GTC=24,341,1838;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=4.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=53;ESP6500_EA_AC=397,8203;ESP6500_EA_AGE=126.2+/-184.7;ESP6500_EA_GTC=9,379,3912;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014704.3:missense;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3829360;ESP6500_GS=64;ESP6500_GTC=33,720,5750;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.2057C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014704.3:p.(A686V);ESP6500_MAF=4.6163,8.8289,6.0434;ESP6500_PH=benign:0.061;ESP6500_TAC=786,12220	GT:AD:DP:GQ:PL	0/1:4,12:16:87:369,0,87
chr1	3829690	rs2275830	T	C	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.399;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275830;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|14/21|c.2043+101A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3954;p3_1000G_AF=0.789537;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=16944;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3746254;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:254,0,188
chr1	3830025	rs2275826	C	G	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.135;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=-1.611;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275826;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|13/21|c.1837-28G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3954;p3_1000G_AF=0.789537;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=17310;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3746589;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4015,389;ESP6500_AA_AGE=176.6+/-205.7;ESP6500_AA_GTC=1837,341,24;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=8200,398;ESP6500_EA_AGE=123.9+/-182.7;ESP6500_EA_GTC=3910,380,9;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:intron;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3830025;ESP6500_GTC=5747,721,33;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.1837-28G>C;ESP6500_MAF=4.629,8.8329,6.0529;ESP6500_TAC=12215,787	GT:AD:DP:GQ:PL	0/1:5,3:8:68:68,0,123
chr1	3831039	rs6413779	T	C	356.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.696;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.52;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6413779;dbSNPBuildID=116;ANN=C|splice_region_variant&intron_variant|LOW|CEP104|CEP104|transcript|NM_014704.3|protein_coding|13/21|c.1836+7A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3954;p3_1000G_AF=0.789537;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=15969;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.9443;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3747603;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4017,389;ESP6500_AA_AGE=196.0+/-220.5;ESP6500_AA_GTC=1837,343,23;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=8203,397;ESP6500_EA_AGE=127.2+/-185.5;ESP6500_EA_GTC=3912,379,9;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:intron;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3831039;ESP6500_GTC=5749,722,32;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.1836+7A>G;ESP6500_MAF=4.6163,8.8289,6.0434;ESP6500_TAC=12220,786	GT:AD:DP:GQ:PL	0/1:15,14:29:99:385,0,356
chr1	3834167	rs6680017	T	G	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.842;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6680017;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|11/21|c.1486-132A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3954;p3_1000G_AF=0.789537;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=25216;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3750731;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:176,0,187
chr1	3836449	rs12746541	G	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.006;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.47;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12746541;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|10/21|c.1317+46C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1365;p3_1000G_AF=0.272564;p3_1000G_AFR_AF=0.5265;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=12215;p3_1000G_EAS_AF=0.0506;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3753013;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2059,2343;ESP6500_AA_GTC=504,1051,646;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=14;ESP6500_EA_AC=2147,6445;ESP6500_EA_GTC=293,1561,2442;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:intron;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3836449;ESP6500_GTC=797,2612,3088;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.1317+46C>G;ESP6500_MAF=24.9884,46.7742,32.3688;ESP6500_TAC=4206,8788	GT:AD:DP:GQ:PL	0/1:3,4:7:89:112,0,89
chr1	3839111	rs1891941	T	C	1432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.744;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=2.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.085;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1891941;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|CEP104|CEP104|transcript|NM_014704.3|protein_coding|8/22|c.744A>G|p.Glu248Glu|1103/6458|744/2778|248/925||;p3_1000G_AA=C|||;p3_1000G_AC=3954;p3_1000G_AF=0.789537;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=24113;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.9443;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3755675;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4017,389;ESP6500_AA_AGE=196.4+/-220.7;ESP6500_AA_GTC=1837,343,23;ESP6500_CDS_SIZES=NM_014704.3:2778;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=109;ESP6500_EA_AC=8203,397;ESP6500_EA_AGE=127.3+/-185.7;ESP6500_EA_GTC=3912,379,9;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014704.3:coding-synonymous;ESP6500_GL=CEP104;ESP6500_GRCh38_POSITION=1:3839111;ESP6500_GTC=5749,722,32;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014704.3:c.744A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014704.3:p.(E248);ESP6500_MAF=4.6163,8.8289,6.0434;ESP6500_TAC=12220,786	GT:AD:DP:GQ:PL	0/1:46,54:100:99:1461,0,1253
chr1	3843220	rs10797347	A	G	132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=1.17;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10797347;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|6/21|c.566+1687T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3954;p3_1000G_AF=0.789537;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=12527;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3759784;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,7:22:99:161,0,358
chr1	3845086	rs2275821	A	G	231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.608;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-1.113;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275821;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|5/21|c.490-103T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3953;p3_1000G_AF=0.789337;p3_1000G_AFR_AF=0.9183;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=18504;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3761650;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:260,0,195
chr1	3848491	rs12239253	C	T	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.04;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12239253;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|3/21|c.287+117G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1532;p3_1000G_AF=0.305911;p3_1000G_AFR_AF=0.5257;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=11494;p3_1000G_EAS_AF=0.1389;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3765055;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:99:101,0,104
chr1	3852469	rs3819006	A	T	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.54;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.81;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.886;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3819006;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding||c.-5135A>T|||||4798|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding||c.-13249A>T|||||4798|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding||c.-13294A>T|||||4798|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding||c.-5135A>T|||||4798|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene||n.-4798A>T|||||4798|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene||n.-4798A>T|||||4798|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene||n.-4798A>T|||||4798|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene||n.-4798A>T|||||4798|,T|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|1/21|c.-14-48T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1598;p3_1000G_AF=0.319089;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=18829;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3769033;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,10:25:99:0|1:3852469_A_T:375,0,817
chr1	3852470	rs3819007	A	T	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.81;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.29;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3819007;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding||c.-5134A>T|||||4797|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding||c.-13248A>T|||||4797|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding||c.-13293A>T|||||4797|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding||c.-5134A>T|||||4797|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene||n.-4797A>T|||||4797|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene||n.-4797A>T|||||4797|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene||n.-4797A>T|||||4797|,T|upstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene||n.-4797A>T|||||4797|,T|intron_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding|1/21|c.-14-49T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1598;p3_1000G_AF=0.319089;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=18876;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3769034;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,10:25:99:0|1:3852469_A_T:375,0,817
chr1	3857566	rs34891610	A	G	715.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.11;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.166;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.69;ReadPosRankSum=0;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34891610;dbSNPBuildID=126;ANN=G|5_prime_UTR_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding|1/7|c.-38A>G|||||38|,G|5_prime_UTR_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding|1/7|c.-354A>G|||||8152|,G|5_prime_UTR_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding|1/7|c.-280A>G|||||8197|,G|5_prime_UTR_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding|1/7|c.-38A>G|||||38|,G|upstream_gene_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding||c.-5159T>C|||||333|,G|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene|1/8|n.300A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene|1/8|n.300A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene|1/8|n.300A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene|1/7|n.300A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=15247;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3774130;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1805,2517;ESP6500_AA_GTC=396,1013,752;ESP6500_CDS_SIZES=NM_004402.2:1017;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=12;ESP6500_EA_AC=2107,6391;ESP6500_EA_GTC=294,1519,2436;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004402.2:utr-5;ESP6500_GL=DFFB;ESP6500_GRCh38_POSITION=1:3857566;ESP6500_GTC=690,2532,3188;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004402.2:c.-38A>G;ESP6500_MAF=24.7941,41.7631,30.5148;ESP6500_TAC=3912,8908	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,18:33:99:0|1:3857566_A_G:744,0,706
chr1	3857574	rs12723005	T	C	737.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=5.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.7;ReadPosRankSum=0.869;SOR=0.588;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12723005;dbSNPBuildID=121;ANN=C|5_prime_UTR_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding|1/7|c.-30T>C|||||30|,C|5_prime_UTR_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding|1/7|c.-346T>C|||||8144|,C|5_prime_UTR_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding|1/7|c.-272T>C|||||8189|,C|5_prime_UTR_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding|1/7|c.-30T>C|||||30|,C|upstream_gene_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding||c.-5167A>G|||||341|,C|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene|1/8|n.308T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene|1/8|n.308T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene|1/8|n.308T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene|1/7|n.308T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=15216;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3774138;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1848,2498;ESP6500_AA_GTC=411,1026,736;ESP6500_CDS_SIZES=NM_004402.2:1017;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=13;ESP6500_EA_AC=2163,6357;ESP6500_EA_GTC=306,1551,2403;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004402.2:utr-5;ESP6500_GL=DFFB;ESP6500_GRCh38_POSITION=1:3857574;ESP6500_GTC=717,2577,3139;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004402.2:c.-30T>C;ESP6500_MAF=25.3873,42.5219,31.1752;ESP6500_TAC=4011,8855	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,20:34:99:0|1:3857566_A_G:766,0,703
chr1	3857732	rs12722891	A	G	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-1.158;SOR=0.904;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12722891;dbSNPBuildID=121;ANN=G|upstream_gene_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding||c.-5325T>C|||||499|,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding|1/6|c.114+15A>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding|1/6|c.-203+15A>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding|1/6|c.-129+15A>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding|1/6|c.114+15A>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene|1/7|n.451+15A>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene|1/7|n.451+15A>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene|1/7|n.451+15A>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene|1/6|n.451+15A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=15825;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3774296;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1629,2631;ESP6500_AA_GTC=341,947,842;ESP6500_CDS_SIZES=NM_004402.2:1017;ESP6500_CG=1.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=6;ESP6500_EA_AC=1939,6431;ESP6500_EA_GTC=274,1391,2520;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004402.2:intron;ESP6500_GL=DFFB;ESP6500_GRCh38_POSITION=1:3857732;ESP6500_GTC=615,2338,3362;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004402.2:c.114+15A>G;ESP6500_MAF=23.1661,38.2394,28.2502;ESP6500_TAC=3568,9062	GT:AD:DP:GQ:PL	0/1:14,9:23:99:234,0,419
chr1	3857748	rs12726906	T	C	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.2;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12726906;dbSNPBuildID=121;ANN=C|upstream_gene_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding||c.-5341A>G|||||515|,C|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding|1/6|c.114+31T>C||||||,C|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding|1/6|c.-203+31T>C||||||,C|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding|1/6|c.-129+31T>C||||||,C|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding|1/6|c.114+31T>C||||||,C|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene|1/7|n.451+31T>C||||||,C|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene|1/7|n.451+31T>C||||||,C|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene|1/7|n.451+31T>C||||||,C|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene|1/6|n.451+31T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=15049;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3774312;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1426,2688;ESP6500_AA_GTC=253,920,884;ESP6500_CDS_SIZES=NM_004402.2:1017;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=5;ESP6500_EA_AC=1759,6365;ESP6500_EA_GTC=235,1289,2538;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004402.2:intron;ESP6500_GL=DFFB;ESP6500_GRCh38_POSITION=1:3857748;ESP6500_GTC=488,2209,3422;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004402.2:c.114+31T>C;ESP6500_MAF=21.6519,34.6621,26.0255;ESP6500_TAC=3185,9053	GT:AD:DP:GQ:PL	0/1:16,9:25:99:237,0,453
chr1	3858890	rs4376673	C	G	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.216;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.721;SOR=0.216;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4376673;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding||c.-6483G>C|||||1657|,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding|2/6|c.263+24C>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding|2/6|c.-76+46C>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding|2/6|c.-2+46C>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding|2/6|c.241+46C>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene|2/7|n.600+24C>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene|2/7|n.578+46C>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene|2/7|n.578+46C>G||||||,G|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene|2/6|n.600+24C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4073;p3_1000G_AF=0.813299;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=15924;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.9433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3775454;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7505;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4231,175;ESP6500_AA_GTC=2032,167,4;ESP6500_CDS_SIZES=NM_004402.2:1017;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=24;ESP6500_EA_AC=8182,418;ESP6500_EA_GTC=3891,400,9;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004402.2:intron;ESP6500_GL=DFFB;ESP6500_GRCh38_POSITION=1:3858890;ESP6500_GTC=5923,567,13;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004402.2:c.241+46C>G;ESP6500_MAF=4.8605,3.9719,4.5594;ESP6500_TAC=12413,593	GT:AD:DP:GQ:PL	0/1:12,12:24:99:285,0,321
chr1	3860425	rs12129902	C	T	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.368;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.719;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=1.02;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12129902;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|CEP104|CEP104|transcript|NM_014704.3|protein_coding||c.-8018G>A|||||3192|,T|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding|2/6|c.263+1559C>T||||||,T|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding|2/6|c.-76+1581C>T||||||,T|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding|2/6|c.-2+1581C>T||||||,T|intron_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding|2/6|c.241+1581C>T||||||,T|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene|2/7|n.600+1559C>T||||||,T|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene|2/7|n.578+1581C>T||||||,T|intron_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene|2/6|n.600+1559C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene|3/8|n.584C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=698;p3_1000G_AF=0.139377;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=19465;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.1451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3776989;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,12:21:99:357,0,260
chr1	3883678	rs3205087	A	G	710.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.185;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-1.43;SOR=0.583;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3205087;dbSNPBuildID=105;ANN=G|synonymous_variant|LOW|DFFB|DFFB|transcript|NM_001282669.1|protein_coding|7/7|c.1026A>G|p.Pro342Pro|1363/3114|1026/1089|342/362||,G|synonymous_variant|LOW|DFFB|DFFB|transcript|NM_001320132.1|protein_coding|7/7|c.807A>G|p.Pro269Pro|1460/3211|807/870|269/289||,G|synonymous_variant|LOW|DFFB|DFFB|transcript|NM_001320136.1|protein_coding|7/7|c.762A>G|p.Pro254Pro|1341/3092|762/825|254/274||,G|synonymous_variant|LOW|DFFB|DFFB|transcript|NM_004402.3|protein_coding|7/7|c.954A>G|p.Pro318Pro|1291/3042|954/1017|318/338||,G|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene|8/8|n.1428A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene|8/8|n.1415A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene|8/8|n.1378A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene|7/7|n.1313A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1782;p3_1000G_AF=0.355831;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=16180;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.4105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3800242;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1491,2915;ESP6500_AA_AGE=477.4+/-357.9;ESP6500_AA_GTC=251,989,963;ESP6500_CDS_SIZES=NM_004402.2:1017;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=132;ESP6500_EA_AC=3879,4721;ESP6500_EA_AGE=544.4+/-384.6;ESP6500_EA_GTC=868,2143,1289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004402.2:coding-synonymous;ESP6500_GL=DFFB;ESP6500_GRCh38_POSITION=1:3883678;ESP6500_GTC=1119,3132,2252;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004402.2:c.954A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004402.2:p.(P318);ESP6500_MAF=45.1047,33.8402,41.2886;ESP6500_TAC=5370,7636	GT:AD:DP:GQ:PL	0/1:21,29:50:99:739,0,507
chr1	3890079	rs4520357	T	A	2346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=1.457;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4520357;dbSNPBuildID=111;ANN=A|splice_region_variant&intron_variant|LOW|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|3/3|c.619-6A>T||||||,A|downstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001282669.1|protein_coding||c.*6338T>A|||||4650|,A|downstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320132.1|protein_coding||c.*6338T>A|||||4650|,A|downstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_001320136.1|protein_coding||c.*6338T>A|||||4650|,A|downstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NM_004402.3|protein_coding||c.*6338T>A|||||4650|,A|downstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_104222.1|pseudogene||n.*4650T>A|||||4650|,A|downstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135150.1|pseudogene||n.*4650T>A|||||4650|,A|downstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135151.1|pseudogene||n.*4650T>A|||||4650|,A|downstream_gene_variant|MODIFIER|DFFB|DFFB|transcript|NR_135152.1|pseudogene||n.*4650T>A|||||4650|;p3_1000G_AA=A|||;p3_1000G_AC=2111;p3_1000G_AF=0.421526;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=19699;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.3241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3806643;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2259,2147;ESP6500_AA_AGE=580.7+/-385.2;ESP6500_AA_GTC=593,1073,537;ESP6500_CDS_SIZES=NM_207356.2:732;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=101;ESP6500_EA_AC=2676,5924;ESP6500_EA_AGE=684.0+/-403.9;ESP6500_EA_GTC=427,1822,2051;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207356.2:intron;ESP6500_GL=C1orf174;ESP6500_GRCh38_POSITION=1:3890079;ESP6500_GTC=1020,2895,2588;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_207356.2:c.619-6A>T;ESP6500_MAF=31.1163,48.729,37.944;ESP6500_TAC=4935,8071	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2375,222,0
chr1	3890558	rs7513321	G	A	586.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.112;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=4.366;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.27;SOR=0.286;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7513321;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|3/3|c.618+11C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=885;p3_1000G_AF=0.176717;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=18879;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3807122;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1270,3136;ESP6500_AA_AGE=434.3+/-343.9;ESP6500_AA_GTC=190,890,1123;ESP6500_CDS_SIZES=NM_207356.2:732;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=60;ESP6500_EA_AC=1541,7059;ESP6500_EA_AGE=289.0+/-299.1;ESP6500_EA_GTC=144,1253,2903;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207356.2:intron;ESP6500_GL=C1orf174;ESP6500_GRCh38_POSITION=1:3890558;ESP6500_GTC=334,2143,4026;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207356.2:c.618+11C>T;ESP6500_MAF=17.9186,28.8243,21.6131;ESP6500_TAC=2811,10195	GT:AD:DP:GQ:PL	0/1:28,24:52:99:615,0,785
chr1	3891029	rs4274008	G	C	1932.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=1.487;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4274008;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|3/4|c.158C>G|p.Thr53Arg|265/1666|158/732|53/243||;p3_1000G_AA=C|||;p3_1000G_AC=4997;p3_1000G_AF=0.997804;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20038;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.993;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3807593;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4392,10;ESP6500_AA_GTC=2191,10,0;ESP6500_CDS_SIZES=NM_207356.2:732;ESP6500_CG=4.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=97;ESP6500_EA_AC=8527,67;ESP6500_EA_GTC=4231,65,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207356.2:missense;ESP6500_GL=C1orf174;ESP6500_GRCh38_POSITION=1:3891029;ESP6500_GS=71;ESP6500_GTC=6422,75,1;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_207356.2:c.158C>G;ESP6500_HGVS_PROTEIN_VAR=NM_207356.2:p.(T53R);ESP6500_MAF=0.7796,0.2272,0.5925;ESP6500_PH=benign:0.0;ESP6500_TAC=12919,77	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1961,165,0
chr1	3892859	rs11807227	G	A	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.169;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=1.02;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.782;SOR=0.982;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11807227;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|2/3|c.129+24C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=729;p3_1000G_AF=0.145567;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=18101;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3809423;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=392,4014;ESP6500_AA_AGE=194.3+/-219.2;ESP6500_AA_GTC=24,344,1835;ESP6500_CDS_SIZES=NM_207356.2:732;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=57;ESP6500_EA_AC=1122,7478;ESP6500_EA_AGE=231.1+/-265.2;ESP6500_EA_GTC=75,972,3253;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207356.2:intron;ESP6500_GL=C1orf174;ESP6500_GRCh38_POSITION=1:3892859;ESP6500_GTC=99,1316,5088;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207356.2:c.129+24C>T;ESP6500_MAF=13.0465,8.897,11.6408;ESP6500_TAC=1514,11492	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,24:59:99:0|1:3892859_G_A:548,0,915
chr1	3892964	rs35157037	C	T	681.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.222;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.156;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.09;SOR=1.068;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35157037;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|2/4|c.48G>A|p.Leu16Leu|155/1666|48/732|16/243||;p3_1000G_AA=C|||;p3_1000G_AC=156;p3_1000G_AF=0.0311502;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=16944;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3809528;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=214,4192;ESP6500_AA_AGE=131.4+/-167.9;ESP6500_AA_GTC=5,204,1994;ESP6500_CDS_SIZES=NM_207356.2:732;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=70;ESP6500_EA_AC=14,8586;ESP6500_EA_AGE=9.1+/-34.3;ESP6500_EA_GTC=0,14,4286;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207356.2:coding-synonymous;ESP6500_GL=C1orf174;ESP6500_GRCh38_POSITION=1:3892964;ESP6500_GTC=5,218,6280;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207356.2:c.48G>A;ESP6500_HGVS_PROTEIN_VAR=NM_207356.2:p.(L16);ESP6500_MAF=0.1628,4.857,1.753;ESP6500_TAC=228,12778	GT:AD:DP:GQ:PL	0/1:27,27:54:99:710,0,712
chr1	3900023	rs35704040	GC	G	196.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.169;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-1.601;SOR=0.169;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35704040;dbSNPBuildID=132;ANN=G|upstream_gene_variant|MODIFIER|LINC01134|LINC01134|transcript|NR_024455.1|pseudogene||n.-380delC|||||380|,G|intron_variant|MODIFIER|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|1/3|c.15+148delG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,6:12:99:0|1:3900023_GC_G:234,0,256
chr1	3900034	rs112821673	A	C	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.693;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112821673;dbSNPBuildID=132;ANN=C|upstream_gene_variant|MODIFIER|LINC01134|LINC01134|transcript|NR_024455.1|pseudogene||n.-370A>C|||||370|,C|intron_variant|MODIFIER|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|1/3|c.15+138T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1079;p3_1000G_AF=0.215455;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=11373;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3816598;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,6:13:99:0|1:3900023_GC_G:231,0,288
chr1	3900119	rs113529609	A	G	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.772;SOR=0.732;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113529609;dbSNPBuildID=132;ANN=G|upstream_gene_variant|MODIFIER|LINC01134|LINC01134|transcript|NR_024455.1|pseudogene||n.-285A>G|||||285|,G|intron_variant|MODIFIER|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|1/3|c.15+53T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1077;p3_1000G_AF=0.215056;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=10359;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3816683;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=431,855;ESP6500_AA_GTC=77,277,289;ESP6500_CDS_SIZES=NM_207356.2:732;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=6;ESP6500_EA_AC=491,2545;ESP6500_EA_GTC=57,377,1084;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207356.2:intron;ESP6500_GL=C1orf174;ESP6500_GRCh38_POSITION=1:3900119;ESP6500_GTC=134,654,1373;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207356.2:c.15+53T>C;ESP6500_MAF=16.1726,33.5148,21.3327;ESP6500_TAC=922,3400	GT:AD:DP:GQ:PL	0/1:19,13:32:99:310,0,518
chr1	3900290	rs61770363	G	A	150.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.54;ReadPosRankSum=0.792;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61770363;dbSNPBuildID=129;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|1/4|c.-104C>T||||||,A|5_prime_UTR_variant|MODIFIER|C1orf174|C1orf174|transcript|NM_207356.2|protein_coding|1/4|c.-104C>T|||||104|,A|upstream_gene_variant|MODIFIER|LINC01134|LINC01134|transcript|NR_024455.1|pseudogene||n.-114G>A|||||114|;p3_1000G_AA=G|||;p3_1000G_AC=743;p3_1000G_AF=0.148363;p3_1000G_AFR_AF=0.1104;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=8826;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3816854;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,6:7:21:179,0,21
chr1	4711993	rs1061968	T	C	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.062;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.82;ReadPosRankSum=-0.505;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1061968;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|AJAP1|AJAP1|transcript|NM_001042478.1|protein_coding|2/6|c.123T>C|p.Cys41Cys|504/2070|123/1236|41/411||,C|synonymous_variant|LOW|AJAP1|AJAP1|transcript|NM_018836.3|protein_coding|2/6|c.123T>C|p.Cys41Cys|504/2923|123/1236|41/411||;p3_1000G_AA=C|||;p3_1000G_AC=2638;p3_1000G_AF=0.526757;p3_1000G_AFR_AF=0.5212;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=10861;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.3668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4772053;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5828;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2212,2168;ESP6500_AA_GTC=585,1042,563;ESP6500_CDS_SIZES=NM_018836.3:1236,NM_001042478.1:1236;ESP6500_CG=-0.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=67;ESP6500_EA_AC=3110,5456;ESP6500_EA_GTC=593,1924,1766;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018836.3:coding-synonymous,NM_001042478.1:coding-synonymous;ESP6500_GL=AJAP1;ESP6500_GRCh38_POSITION=1:4711993;ESP6500_GTC=1178,2966,2329;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018836.3:c.123T>C,NM_001042478.1:c.123T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018836.3:p.(C41),NM_001042478.1:p.(C41);ESP6500_MAF=36.3063,49.4977,41.1092;ESP6500_TAC=5322,7624	GT:AD:DP:GQ:PL	0/1:15,9:24:99:216,0,424
chr1	4769775	rs2072901	A	G	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.75;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=0.059;SOR=2.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072901;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|AJAP1|AJAP1|transcript|NM_001042478.1|protein_coding|2/5|c.830-78A>G||||||,G|intron_variant|MODIFIER|AJAP1|AJAP1|transcript|NM_018836.3|protein_coding|2/5|c.830-78A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.149;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=15842;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.1352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4829835;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:167,0,294
chr1	4774360	rs12747519	C	T	518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.283;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.587;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.593;SOR=0.364;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12747519;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|AJAP1|AJAP1|transcript|NM_001042478.1|protein_coding|4/5|c.1164-67C>T||||||,T|intron_variant|MODIFIER|AJAP1|AJAP1|transcript|NM_018836.3|protein_coding|4/5|c.1164-67C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=812;p3_1000G_AF=0.162141;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=17608;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4834420;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,22:48:99:547,0,712
chr1	5865311	rs1287634;260559	G	A	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.594;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.868;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1287634;dbSNPBuildID=87;ANN=A|upstream_gene_variant|MODIFIER|MIR4689|MIR4689|transcript|NR_039838.1|pseudogene||n.-2570C>T|||||2570|,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|26/29|c.3645-38C>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|23/26|c.2106-38C>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|22/25|c.2109-38C>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|29/32|n.4460-38C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1592;p3_1000G_AF=0.317891;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=18193;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.4115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5925371;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=843,3409;ESP6500_AA_GTC=105,633,1388;ESP6500_CDS_SIZES=NM_015102.3:4281;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=18;ESP6500_EA_AC=3447,4997;ESP6500_EA_GTC=782,1883,1557;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015102.3:intron;ESP6500_GL=NPHP4;ESP6500_GRCh38_POSITION=1:5865311;ESP6500_GTC=887,2516,2945;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015102.3:c.3645-38C>T;ESP6500_MAF=40.8219,19.826,33.7902;ESP6500_TAC=4290,8406;CLINVAR_AF_ESP=0.3379;CLINVAR_AF_EXAC=0.44579;CLINVAR_AF_TGP=0.3179;CLINVAR_ALLELEID=249994;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.5865311G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NPHP4:261734;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1287634	GT:AD:DP:GQ:PL	0/1:13,14:27:99:383,0,349
chr1	5866447	rs555164;95683	T	C	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.554;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs555164;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|26/30|c.3570A>G|p.Glu1190Glu|3838/5006|3570/4281|1190/1426||,C|synonymous_variant|LOW|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|23/27|c.2031A>G|p.Glu677Glu|3528/4696|2031/2742|677/913||,C|synonymous_variant|LOW|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|22/26|c.2034A>G|p.Glu678Glu|3351/4519|2034/2745|678/914||,C|upstream_gene_variant|MODIFIER|MIR4689|MIR4689|transcript|NR_039838.1|pseudogene||n.-3706A>G|||||3706|,C|non_coding_transcript_exon_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|29/33|n.4385A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1601;p3_1000G_AF=0.319688;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=17616;p3_1000G_EAS_AF=0.2837;p3_1000G_EUR_AF=0.4135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5926507;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=768,3102;ESP6500_AA_GTC=79,610,1246;ESP6500_CDS_SIZES=NM_015102.3:4281;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=33;ESP6500_EA_AC=3460,4784;ESP6500_EA_GTC=760,1940,1422;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015102.3:coding-synonymous;ESP6500_GL=NPHP4;ESP6500_GRCh38_POSITION=1:5866447;ESP6500_GTC=839,2550,2668;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015102.3:c.3570A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015102.3:p.(E1190);ESP6500_MAF=41.9699,19.845,34.9018;ESP6500_TAC=4228,7886;CLINVAR_AF_ESP=0.3490;CLINVAR_AF_EXAC=0.46043;CLINVAR_AF_TGP=0.3197;CLINVAR_ALLELEID=101580;CLINVAR_CLNDISDB=MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLINVAR_CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.5866447T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:16;CLINVAR_GENEINFO=NPHP4:261734;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=555164	GT:AD:DP:GQ:PL	0/1:12,11:23:99:293,0,257
chr1	5874430	rs868163;260554	A	G	368.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.354;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.69;ReadPosRankSum=0.514;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs868163;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|22/29|c.3231+41T>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|19/26|c.1692+41T>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|18/25|c.1695+41T>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|25/32|n.4046+41T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=19392;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5934490;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2961,1185;ESP6500_AA_GTC=1104,753,216;ESP6500_CDS_SIZES=NM_015102.3:4281;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=8;ESP6500_EA_AC=5402,2880;ESP6500_EA_GTC=1872,1658,611;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015102.3:intron;ESP6500_GL=NPHP4;ESP6500_GRCh38_POSITION=1:5874430;ESP6500_GTC=2976,2411,827;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015102.3:c.3231+41T>C;ESP6500_MAF=34.7742,28.5818,32.7084;ESP6500_TAC=8363,4065;CLINVAR_ALLELEID=249999;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.5874430A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NPHP4:261734;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=868163	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,10:17:99:0|1:5874430_A_G:397,0,426
chr1	5874440	rs905467;260553	T	C	365.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.05;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.52;ReadPosRankSum=0.787;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs905467;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|22/29|c.3231+31A>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|19/26|c.1692+31A>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|18/25|c.1695+31A>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|25/32|n.4046+31A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1358;p3_1000G_AF=0.271166;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=19985;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5934500;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=406,3768;ESP6500_AA_GTC=18,370,1699;ESP6500_CDS_SIZES=NM_015102.3:4281;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=9;ESP6500_EA_AC=1782,6548;ESP6500_EA_GTC=180,1422,2563;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015102.3:intron;ESP6500_GL=NPHP4;ESP6500_GRCh38_POSITION=1:5874440;ESP6500_GTC=198,1792,4262;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015102.3:c.3231+31A>G;ESP6500_MAF=21.3926,9.7269,17.4984;ESP6500_TAC=2188,10316;CLINVAR_AF_ESP=0.1750;CLINVAR_AF_EXAC=0.31427;CLINVAR_AF_TGP=0.2712;CLINVAR_ALLELEID=250000;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.5874440T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NPHP4:261734;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=905467	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,10:17:99:0|1:5874430_A_G:394,0,459
chr1	5877031	rs1622955	T	C	1535.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.645;ClippingRankSum=0;DP=134;ExcessHet=3.0103;FS=1.431;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.079;SOR=0.838;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1622955;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|20/29|c.2817+62A>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|17/26|c.1278+62A>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|16/25|c.1281+62A>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|21/32|n.3369+62A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4528;p3_1000G_AF=0.904153;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=17729;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5937091;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:70,62:132:99:1564,0,1802
chr1	5877108	rs3747992;95679	G	A	1506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3;ClippingRankSum=0;DP=159;ExcessHet=3.0103;FS=0.591;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.86;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747992;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|20/30|c.2802C>T|p.Arg934Arg|3070/5006|2802/4281|934/1426||,A|synonymous_variant|LOW|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|17/27|c.1263C>T|p.Arg421Arg|2760/4696|1263/2742|421/913||,A|synonymous_variant|LOW|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|16/26|c.1266C>T|p.Arg422Arg|2583/4519|1266/2745|422/914||,A|non_coding_transcript_exon_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|21/33|n.3354C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2271;p3_1000G_AF=0.453474;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=16650;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5937168;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1224,2996;ESP6500_AA_GTC=180,864,1066;ESP6500_CDS_SIZES=NM_015102.3:4281;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=17;ESP6500_EA_AC=3227,5183;ESP6500_EA_GTC=649,1929,1627;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015102.3:coding-synonymous;ESP6500_GL=NPHP4;ESP6500_GRCh38_POSITION=1:5877108;ESP6500_GTC=829,2793,2693;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015102.3:c.2802C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015102.3:p.(R934);ESP6500_MAF=38.371,29.0047,35.2415;ESP6500_TAC=4451,8179;CLINVAR_AF_ESP=0.3524;CLINVAR_AF_EXAC=0.47507;CLINVAR_AF_TGP=0.4535;CLINVAR_ALLELEID=101576;CLINVAR_CLNDISDB=MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLINVAR_CLNDN=Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.5877108G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:68;CLINVAR_GENEINFO=NPHP4:261734;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3747992	GT:AD:DP:GQ:PL	0/1:88,70:158:99:1535,0,2310
chr1	5877331	rs3747989;260547	C	T	379.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.429;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.08;SOR=0.791;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747989;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|19/29|c.2612-33G>A||||||,T|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|16/26|c.1073-33G>A||||||,T|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|15/25|c.1076-33G>A||||||,T|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|20/32|n.3164-33G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4170;p3_1000G_AF=0.832668;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=18204;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5937391;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3992,290;ESP6500_AA_GTC=1861,270,10;ESP6500_CDS_SIZES=NM_015102.3:4281;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=18;ESP6500_EA_AC=6867,1603;ESP6500_EA_GTC=2776,1315,144;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015102.3:intron;ESP6500_GL=NPHP4;ESP6500_GRCh38_POSITION=1:5877331;ESP6500_GTC=4637,1585,154;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015102.3:c.2612-33G>A;ESP6500_MAF=18.9256,6.7725,14.8447;ESP6500_TAC=10859,1893;CLINVAR_ALLELEID=250004;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.5877331C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NPHP4:261734;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3747989	GT:AD:DP:GQ:PL	0/1:23,18:41:99:408,0,612
chr1	5877353	rs3747988	A	C	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.224;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.385;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747988;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|19/29|c.2612-55T>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|16/26|c.1073-55T>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|15/25|c.1076-55T>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|20/32|n.3164-55T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2362;p3_1000G_AF=0.471645;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=18644;p3_1000G_EAS_AF=0.7351;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5937413;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4438;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,15:35:99:377,0,598
chr1	5879484	rs11121915	T	G	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=6.644;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.221;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121915;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|19/29|c.2611+630A>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|16/26|c.1072+630A>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|15/25|c.1075+630A>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|20/33|n.3025A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4178;p3_1000G_AF=0.834265;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=20027;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.8151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5939544;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1630,122;ESP6500_AA_GTC=758,114,4;ESP6500_CDS_SIZES=NM_015102.3:4281;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=47;ESP6500_EA_AC=3202,780;ESP6500_EA_GTC=1281,640,70;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015102.3:intron;ESP6500_GL=NPHP4;ESP6500_GRCh38_POSITION=1:5879484;ESP6500_GTC=2039,754,74;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015102.3:c.2611+630A>C;ESP6500_MAF=19.5881,6.9635,15.7307;ESP6500_TAC=4832,902	GT:AD:DP:GQ:PL	0/1:29,23:52:99:638,0,722
chr1	5888617	rs2282281	G	A	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.485;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.354;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-2.05;SOR=0.913;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282281;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|17/29|c.2305-1151C>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|14/26|c.766-1151C>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|13/25|c.769-1151C>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|17/32|n.2570-1151C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4176;p3_1000G_AF=0.833866;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=16829;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.8151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5948677;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1630,122;ESP6500_AA_GTC=758,114,4;ESP6500_CDS_SIZES=NM_015102.3:4281;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=86;ESP6500_EA_AC=3202,780;ESP6500_EA_GTC=1280,642,69;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015102.3:intron;ESP6500_GL=NPHP4;ESP6500_GRCh38_POSITION=1:5888617;ESP6500_GTC=2038,756,73;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015102.3:c.2305-1151C>T;ESP6500_MAF=19.5881,6.9635,15.7307;ESP6500_TAC=4832,902	GT:AD:DP:GQ:PL	0/1:34,21:55:99:519,0,901
chr1	5967107	rs875574	C	A	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.957;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-2.383;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs875574;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|5/29|c.517+192G>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|5/26|c.-713+192G>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|3/25|c.-850+192G>T||||||,A|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|5/32|n.785+192G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3454;p3_1000G_AF=0.689696;p3_1000G_AFR_AF=0.736;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=19241;p3_1000G_EAS_AF=0.746;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6027167;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,13:30:99:355,0,490
chr1	5967192	rs875573	A	G	761.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.03;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0.883;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.11;SOR=0.849;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs875573;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|5/29|c.517+107T>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|5/26|c.-713+107T>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|3/25|c.-850+107T>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|5/32|n.785+107T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3306;p3_1000G_AF=0.660144;p3_1000G_AFR_AF=0.6286;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=21194;p3_1000G_EAS_AF=0.746;p3_1000G_EUR_AF=0.6581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6027252;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,34:74:99:790,0,990
chr1	5969026	rs34702999;rs59913966	CA	C	121.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.414;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.586;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34702999,rs59913966;dbSNPBuildID=126,129;ANN=C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|4/29|c.452+60delT||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|4/26|c.-778+60delT||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|2/25|c.-915+60delT||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|4/32|n.720+60delT||||||	GT:AD:DP:GQ:PL	0/1:3,8:11:42:159,0,42
chr1	5978523	rs4908639	G	C	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.941;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.104;SOR=2.133;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4908639;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|2/29|c.136-110C>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|2/26|c.-1094-110C>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|1/25|c.-1087-9264C>G||||||,C|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|2/32|n.404-110C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4201;p3_1000G_AF=0.838858;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=19533;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.8231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6038583;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,9:21:99:320,0,378
chr1	5986372	rs1295111	C	G	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.048;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.21;ReadPosRankSum=0.723;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1295111;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_015102.4|protein_coding|1/29|c.-38-45G>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291593.1|protein_coding|1/26|c.-1267-45G>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NM_001291594.1|protein_coding|1/25|c.-1088+5872G>C||||||,G|intron_variant|MODIFIER|NPHP4|NPHP4|transcript|NR_111987.1|pseudogene|1/32|n.231-45G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1942;p3_1000G_AF=0.38778;p3_1000G_AFR_AF=0.497;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=16693;p3_1000G_EAS_AF=0.256;p3_1000G_EUR_AF=0.3718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6046432;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:96:96,0,350
chr1	6040665	rs2294937	C	T	540.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.312;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.36;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.512;SOR=0.252;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294937;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|2/15|c.77+20C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|2/15|c.77+20C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|2/14|c.77+20C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|2/15|c.77+20C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=10743;p3_1000G_EAS_AF=0.0387;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6100725;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP;ESP6500_AA_AC=2,4396;ESP6500_AA_GTC=0,2,2197;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=0,8588;ESP6500_EA_GTC=0,0,4294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:intron,NM_003636.3:intron,NM_001199861.1:intron,NM_001199860.1:intron;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6040665;ESP6500_GTC=0,2,6491;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.77+20C>T,NM_003636.3:c.77+20C>T,NM_001199861.1:c.77+20C>T,NM_001199860.1:c.77+20C>T;ESP6500_MAF=0.0,0.0455,0.0154;ESP6500_TAC=2,12984	GT:AD:DP:GQ:PL	0/1:16,21:37:99:569,0,463
chr1	6085305	rs2294936	A	G	495.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2294936;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|6/15|c.425+57A>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|7/15|c.326+57A>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|7/15|c.326+57A>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|6/14|c.284+57A>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|7/15|c.326+57A>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|5/13|c.125+57A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3438;p3_1000G_AF=0.686502;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=18028;p3_1000G_EAS_AF=0.7798;p3_1000G_EUR_AF=0.6551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6145365;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1062,322;ESP6500_AA_GTC=412,238,42;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199863.1:903,NM_001199862.1:1248,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=2109,1073;ESP6500_EA_GTC=703,703,185;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:intron,NM_003636.3:intron,NM_001199863.1:intron,NM_001199862.1:intron,NM_001199861.1:intron,NM_001199860.1:intron;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6085305;ESP6500_GTC=1115,941,227;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.284+57A>G,NM_003636.3:c.326+57A>G,NM_001199863.1:c.125+57A>G,NM_001199862.1:c.425+57A>G,NM_001199861.1:c.326+57A>G,NM_001199860.1:c.326+57A>G;ESP6500_MAF=33.7209,23.2659,30.5519;ESP6500_TAC=3171,1395	GT:AD:DP:GQ:PL	1/1:0,15:15:45:524,45,0
chr1	6085319	rs2294935	C	T	383.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2294935;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|6/15|c.425+71C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|7/15|c.326+71C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|7/15|c.326+71C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|6/14|c.284+71C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|7/15|c.326+71C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|5/13|c.125+71C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=448;p3_1000G_AF=0.0894569;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=17861;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6145379;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=39,1345;ESP6500_AA_GTC=0,39,653;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199863.1:903,NM_001199862.1:1248,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=364,2818;ESP6500_EA_GTC=23,318,1250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:intron,NM_003636.3:intron,NM_001199863.1:intron,NM_001199862.1:intron,NM_001199861.1:intron,NM_001199860.1:intron;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6085319;ESP6500_GTC=23,357,1903;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.284+71C>T,NM_003636.3:c.326+71C>T,NM_001199863.1:c.125+71C>T,NM_001199862.1:c.425+71C>T,NM_001199861.1:c.326+71C>T,NM_001199860.1:c.326+71C>T;ESP6500_MAF=11.4393,2.8179,8.8261;ESP6500_TAC=403,4163	GT:AD:DP:GQ:PL	1/1:0,12:12:36:412,36,0
chr1	6086101	rs12754107	C	G	637.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.079;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.35;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12754107;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|6/15|c.425+853C>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|7/15|c.326+853C>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|7/15|c.326+853C>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|6/14|c.284+853C>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|7/15|c.326+853C>G||||||,G|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|5/13|c.125+853C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3583;p3_1000G_AF=0.715455;p3_1000G_AFR_AF=0.8086;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=15824;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.7455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6146161;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,23:48:99:666,0,653
chr1	6088993	rs2273043	C	T	1943.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.01;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273043;dbSNPBuildID=100;ANN=T|sequence_feature|MODERATE|KCNAB2|KCNAB2|modified-residue:N6-acetyllysine|NM_001199862.1|protein_coding|7/15|c.471-15C>T||||||,T|sequence_feature|MODERATE|KCNAB2|KCNAB2|modified-residue:N6-acetyllysine|NM_003636.3|protein_coding|8/15|c.372-15C>T||||||,T|sequence_feature|MODERATE|KCNAB2|KCNAB2|modified-residue:N6-acetyllysine|NM_172130.2|protein_coding|7/14|c.330-15C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|7/15|c.471-15C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|8/15|c.372-15C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|8/15|c.372-15C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|7/14|c.330-15C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|8/15|c.372-15C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|6/13|c.171-15C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=487;p3_1000G_AF=0.0972444;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=12414;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.1412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6149053;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=96,3806;ESP6500_AA_GTC=0,96,1855;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199863.1:903,NM_001199862.1:1248,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=712,6846;ESP6500_EA_GTC=34,644,3101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:intron,NM_003636.3:intron,NM_001199863.1:intron,NM_001199862.1:intron,NM_001199861.1:intron,NM_001199860.1:intron;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6088993;ESP6500_GTC=34,740,4956;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.330-15C>T,NM_003636.3:c.372-15C>T,NM_001199863.1:c.171-15C>T,NM_001199862.1:c.471-15C>T,NM_001199861.1:c.372-15C>T,NM_001199860.1:c.372-15C>T;ESP6500_MAF=9.4205,2.4603,7.0506;ESP6500_TAC=808,10652	GT:AD:DP:GQ:PL	1/1:0,67:67:99:1972,201,0
chr1	6089062	rs2273042	G	A	1161.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273042;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|8/15|c.514+11G>A||||||,A|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|9/15|c.415+11G>A||||||,A|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|9/15|c.415+11G>A||||||,A|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|8/14|c.373+11G>A||||||,A|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|9/15|c.415+11G>A||||||,A|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|7/13|c.214+11G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=486;p3_1000G_AF=0.0970447;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=12526;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.1412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6149122;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=90,3814;ESP6500_AA_GTC=0,90,1862;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199863.1:903,NM_001199862.1:1248,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=720,6750;ESP6500_EA_GTC=31,658,3046;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:intron,NM_003636.3:intron,NM_001199863.1:intron,NM_001199862.1:intron,NM_001199861.1:intron,NM_001199860.1:intron;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6089062;ESP6500_GTC=31,748,4908;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.373+11G>A,NM_003636.3:c.415+11G>A,NM_001199863.1:c.214+11G>A,NM_001199862.1:c.514+11G>A,NM_001199861.1:c.415+11G>A,NM_001199860.1:c.415+11G>A;ESP6500_MAF=9.6386,2.3053,7.1215;ESP6500_TAC=810,10564	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1190,114,0
chr1	6094357	rs2294932	C	T	929.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2294932;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|10/15|c.647-43C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|10/15|c.503-43C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|10/15|c.503-43C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|9/14|c.461-43C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|10/15|c.503-43C>T||||||,T|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|8/13|c.302-43C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1157;p3_1000G_AF=0.23103;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=17639;p3_1000G_EAS_AF=0.3899;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6154417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=648,3740;ESP6500_AA_GTC=50,548,1596;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199863.1:903,NM_001199862.1:1248,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=1967,6615;ESP6500_EA_GTC=253,1461,2577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:intron,NM_003636.3:intron,NM_001199863.1:intron,NM_001199862.1:intron,NM_001199861.1:intron,NM_001199860.1:intron;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6094357;ESP6500_GTC=303,2009,4173;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.461-43C>T,NM_003636.3:c.503-43C>T,NM_001199863.1:c.302-43C>T,NM_001199862.1:c.647-43C>T,NM_001199861.1:c.503-43C>T,NM_001199860.1:c.503-43C>T;ESP6500_MAF=22.9201,14.7675,20.1619;ESP6500_TAC=2615,10355	GT:AD:DP:GQ:PL	1/1:0,28:28:84:958,84,0
chr1	6095272	rs1555144	T	C	137.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.97;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1555144;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|11/15|c.733-51T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|11/15|c.589-51T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|11/15|c.589-51T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|10/14|c.547-51T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|11/15|c.589-51T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|9/13|c.388-51T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3642;p3_1000G_AF=0.727236;p3_1000G_AFR_AF=0.8722;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=12744;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.7157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6155332;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3627,561;ESP6500_AA_GTC=1588,451,55;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199863.1:903,NM_001199862.1:1248,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=7;ESP6500_EA_AC=6128,2190;ESP6500_EA_GTC=2319,1490,350;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:intron,NM_003636.3:intron,NM_001199863.1:intron,NM_001199862.1:intron,NM_001199861.1:intron,NM_001199860.1:intron;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6095272;ESP6500_GTC=3907,1941,405;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.547-51T>C,NM_003636.3:c.589-51T>C,NM_001199863.1:c.388-51T>C,NM_001199862.1:c.733-51T>C,NM_001199861.1:c.589-51T>C,NM_001199860.1:c.589-51T>C;ESP6500_MAF=26.3284,13.3954,21.9974;ESP6500_TAC=9755,2751	GT:AD:DP:GQ:PL	1/1:0,6:6:18:166,18,0
chr1	6097237	rs749435	T	C	449.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.67;ReadPosRankSum=1.61;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs749435;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding||c.*9043A>G|||||4550|,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|14/15|c.1070-32T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|14/15|c.926-32T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|14/15|c.926-32T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|13/14|c.884-32T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|14/15|c.926-32T>C||||||,C|intron_variant|MODIFIER|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|12/13|c.725-32T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=513;p3_1000G_AF=0.102436;p3_1000G_AFR_AF=0.0393;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=16133;p3_1000G_EAS_AF=0.2063;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6157297;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=195,3621;ESP6500_AA_GTC=4,187,1717;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199863.1:903,NM_001199862.1:1248,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=37;ESP6500_EA_AC=700,6830;ESP6500_EA_GTC=31,638,3096;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:intron,NM_003636.3:intron,NM_001199863.1:intron,NM_001199862.1:intron,NM_001199861.1:intron,NM_001199860.1:intron;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6097237;ESP6500_GTC=35,825,4813;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.884-32T>C,NM_003636.3:c.926-32T>C,NM_001199863.1:c.725-32T>C,NM_001199862.1:c.1070-32T>C,NM_001199861.1:c.926-32T>C,NM_001199860.1:c.926-32T>C;ESP6500_MAF=9.2961,5.1101,7.8882;ESP6500_TAC=895,10451	GT:AD:DP:GQ:PL	0/1:4,15:19:66:478,0,66
chr1	6098502	rs2229002	A	G	1334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229002;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|KCNAB2|KCNAB2|transcript|NM_001199862.1|protein_coding|16/16|c.1176A>G|p.Ser392Ser|1465/4156|1176/1248|392/415||,G|synonymous_variant|LOW|KCNAB2|KCNAB2|transcript|NM_001199861.1|protein_coding|16/16|c.1032A>G|p.Ser344Ser|1575/4266|1032/1104|344/367||,G|synonymous_variant|LOW|KCNAB2|KCNAB2|transcript|NM_003636.3|protein_coding|16/16|c.1032A>G|p.Ser344Ser|1517/4208|1032/1104|344/367||,G|synonymous_variant|LOW|KCNAB2|KCNAB2|transcript|NM_172130.2|protein_coding|15/15|c.990A>G|p.Ser330Ser|1475/4166|990/1062|330/353||,G|synonymous_variant|LOW|KCNAB2|KCNAB2|transcript|NM_001199860.1|protein_coding|16/16|c.1032A>G|p.Ser344Ser|1591/4282|1032/1104|344/367||,G|synonymous_variant|LOW|KCNAB2|KCNAB2|transcript|NM_001199863.1|protein_coding|14/14|c.831A>G|p.Ser277Ser|983/3674|831/903|277/300||,G|downstream_gene_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding||c.*7778T>C|||||3285|;p3_1000G_AA=G|||;p3_1000G_AC=2724;p3_1000G_AF=0.54393;p3_1000G_AFR_AF=0.6415;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=21080;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.6093;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6158562;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4448;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2816,1588;ESP6500_AA_AGE=492.9+/-362.5;ESP6500_AA_GTC=906,1004,292;ESP6500_CDS_SIZES=NM_172130.2:1062,NM_003636.3:1104,NM_001199863.1:903,NM_001199862.1:1248,NM_001199861.1:1104,NM_001199860.1:1104;ESP6500_CG=-6.9;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=143;ESP6500_EA_AC=5176,3424;ESP6500_EA_AGE=504.7+/-376.2;ESP6500_EA_GTC=1599,1978,723;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172130.2:coding-synonymous,NM_003636.3:coding-synonymous,NM_001199863.1:coding-synonymous,NM_001199862.1:coding-synonymous,NM_001199861.1:coding-synonymous,NM_001199860.1:coding-synonymous;ESP6500_GL=KCNAB2;ESP6500_GRCh38_POSITION=1:6098502;ESP6500_GTC=2505,2982,1015;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172130.2:c.990A>G,NM_003636.3:c.1032A>G,NM_001199863.1:c.831A>G,NM_001199862.1:c.1176A>G,NM_001199861.1:c.1032A>G,NM_001199860.1:c.1032A>G;ESP6500_HGVS_PROTEIN_VAR=NM_172130.2:p.(S330),NM_003636.3:p.(S344),NM_001199863.1:p.(S277),NM_001199862.1:p.(S392),NM_001199861.1:p.(S344),NM_001199860.1:p.(S344);ESP6500_MAF=39.814,36.0581,38.542;ESP6500_TAC=7992,5012	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1363,141,0
chr1	6110364	rs78789357	CG	C	686.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs78789357;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|37/41|c.5382+29delC||||||;p3_1000G_AA=?|G|-|unsure;p3_1000G_AC=2808;p3_1000G_AF=0.560703;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=17114;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.4583;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6170424;p3_1000G_GRCH37_REF=CG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=INDEL;ESP6500_AA_AC=9,2210,2047;ESP6500_AA_GTC=4,0,1,560,1090,478;ESP6500_CDS_SIZES=NM_015557.2:5865,NM_015557.2:5865;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=86;ESP6500_EA_AC=10,3593,4651;ESP6500_EA_GTC=4,0,2,752,2089,1280;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015557.2:intron,NM_015557.2:intron;ESP6500_GL=CHD5;ESP6500_GRCh38_POSITION=1:6110364;ESP6500_GTC=8,0,3,1312,3179,1758;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_015557.2:c.5382+29del3,NM_015557.2:c.5382+28_5382+29del2;ESP6500_MAF=43.6516,48.195,46.5016;ESP6500_TAC=19,5803,6698	GT:AD:DP:GQ:PL	1/1:0,18:18:54:724,54,0
chr1	6112815	rs4908515	G	A	300.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4908515;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|34/41|c.5002+94C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3646;p3_1000G_AF=0.728035;p3_1000G_AFR_AF=0.6362;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=16167;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6172875;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:329,30,0
chr1	6113589	rs2785580	A	G	604.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.66;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2785580;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|33/41|c.4913-591T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3578;p3_1000G_AF=0.714457;p3_1000G_AFR_AF=0.5847;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=19128;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6173649;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:633,51,0
chr1	6124032	rs2843493	A	G	836.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2843493;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CHD5|CHD5|transcript|NM_015557.2|protein_coding|31/42|c.4615T>C|p.Ser1539Pro|4726/9663|4615/5865|1539/1954||;p3_1000G_AA=G|||;p3_1000G_AC=3644;p3_1000G_AF=0.727636;p3_1000G_AFR_AF=0.612;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=10404;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.5994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6184092;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2648,1758;ESP6500_AA_AGE=514.4+/-368.6;ESP6500_AA_GTC=796,1056,351;ESP6500_CDS_SIZES=NM_015557.2:5865;ESP6500_CG=3.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=4999,3601;ESP6500_EA_AGE=514.9+/-378.5;ESP6500_EA_GTC=1426,2147,727;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015557.2:missense;ESP6500_GL=CHD5;ESP6500_GRCh38_POSITION=1:6124032;ESP6500_GS=74;ESP6500_GTC=2222,3203,1078;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015557.2:c.4615T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015557.2:p.(S1539P);ESP6500_MAF=41.8721,39.9001,41.2041;ESP6500_PH=benign:0.0;ESP6500_TAC=7647,5359	GT:AD:DP:GQ:PL	1/1:0,27:27:81:865,81,0
chr1	6127000	rs368370789	C	A	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.881;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=-0.908;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368370789;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|25/41|c.3904-254G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20150;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6187060;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,14:18:83:378,0,83
chr1	6142644	rs367714204	TG	T	922.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.24;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=3.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.83;ReadPosRankSum=-1.909;SOR=0.286;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs367714204;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|13/41|c.2044-40delC||||||;p3_1000G_AA=GGG|GGG|GG|deletion;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20238;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6202704;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:18,31:49:99:960,0,493
chr1	6144206	rs9435102	A	G	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.49;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.696;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.407;SOR=1.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9435102;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|11/41|c.1803-51T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3559;p3_1000G_AF=0.710663;p3_1000G_AFR_AF=0.8245;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=19927;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.4891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6204266;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3351,1055;ESP6500_AA_AGE=381.6+/-324.1;ESP6500_AA_GTC=1275,801,127;ESP6500_CDS_SIZES=NM_015557.2:5865;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=85;ESP6500_EA_AC=4135,4465;ESP6500_EA_AGE=585.4+/-391.9;ESP6500_EA_GTC=994,2147,1159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015557.2:intron;ESP6500_GL=CHD5;ESP6500_GRCh38_POSITION=1:6144206;ESP6500_GTC=2269,2948,1286;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015557.2:c.1803-51T>C;ESP6500_MAF=48.0814,23.9446,42.4419;ESP6500_TAC=7486,5520	GT:AD:DP:GQ:PL	0/1:14,15:29:99:438,0,345
chr1	6149205	rs41279496	G	T	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.892;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.848;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41279496;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|8/41|c.1161+41C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=651;p3_1000G_AF=0.129992;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=15248;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.0795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6209265;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=242,4112;ESP6500_AA_GTC=7,228,1942;ESP6500_CDS_SIZES=NM_015557.2:5865;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=13;ESP6500_EA_AC=570,7998;ESP6500_EA_GTC=25,520,3739;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015557.2:intron;ESP6500_GL=CHD5;ESP6500_GRCh38_POSITION=1:6149205;ESP6500_GTC=32,748,5681;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015557.2:c.1161+41C>A;ESP6500_MAF=6.6527,5.5581,6.2839;ESP6500_TAC=812,12110	GT:AD:DP:GQ:PL	0/1:13,10:23:99:310,0,450
chr1	6149303	rs12565328	T	C	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.35;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.692;SOR=0.507;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12565328;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|CHD5|CHD5|transcript|NM_015557.2|protein_coding|8/42|c.1104A>G|p.Val368Val|1215/9663|1104/5865|368/1954||;p3_1000G_AA=C|||;p3_1000G_AC=2623;p3_1000G_AF=0.523762;p3_1000G_AFR_AF=0.7216;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=17436;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.3082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6209363;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2866,1540;ESP6500_AA_AGE=481.9+/-359.3;ESP6500_AA_GTC=938,990,275;ESP6500_CDS_SIZES=NM_015557.2:5865;ESP6500_CG=-0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=2466,6134;ESP6500_EA_AGE=693.8+/-404.7;ESP6500_EA_GTC=362,1742,2196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015557.2:coding-synonymous;ESP6500_GL=CHD5;ESP6500_GRCh38_POSITION=1:6149303;ESP6500_GTC=1300,2732,2471;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015557.2:c.1104A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015557.2:p.(V368);ESP6500_MAF=28.6744,34.9523,40.9965;ESP6500_TAC=5332,7674	GT:AD:DP:GQ:PL	0/1:24,21:45:99:576,0,560
chr1	6150910	rs12564469	G	A	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.876;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.16;ReadPosRankSum=0.66;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12564469;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|7/41|c.994+122C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2565;p3_1000G_AF=0.512181;p3_1000G_AFR_AF=0.7126;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=17917;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6210970;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:74:74,0,259
chr1	6151123	rs9434711	G	A	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.483;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.071;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9434711;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|CHD5|CHD5|transcript|NM_015557.2|protein_coding|7/42|c.903C>T|p.Phe301Phe|1014/9663|903/5865|301/1954||;p3_1000G_AA=G|||;p3_1000G_AC=2535;p3_1000G_AF=0.50619;p3_1000G_AFR_AF=0.6906;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=19415;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.3002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6211183;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP;ESP6500_AA_AC=2701,1705;ESP6500_AA_AGE=652.2+/-399.4;ESP6500_AA_GTC=834,1033,336;ESP6500_CDS_SIZES=NM_015557.2:5865;ESP6500_CG=-6.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=88;ESP6500_EA_AC=2423,6177;ESP6500_EA_AGE=401.7+/-347.2;ESP6500_EA_GTC=348,1727,2225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015557.2:coding-synonymous;ESP6500_GL=CHD5;ESP6500_GRCh38_POSITION=1:6151123;ESP6500_GTC=1182,2760,2561;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015557.2:c.903C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015557.2:p.(F301);ESP6500_MAF=28.1744,38.6972,39.3972;ESP6500_TAC=5124,7882	GT:AD:DP:GQ:PL	0/1:20,19:39:99:509,0,544
chr1	6154987	rs12034457	A	G	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.589;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12034457;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|4/41|c.507-89T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=802;p3_1000G_AF=0.160144;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=10388;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6215047;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:6154987_A_G:153,0,284
chr1	6154988	rs12035285	T	C	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.589;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12035285;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|4/41|c.507-90A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=802;p3_1000G_AF=0.160144;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=10400;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6215048;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:6154987_A_G:153,0,284
chr1	6155480	rs77219692	C	A	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.507;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.309;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77219692;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|4/41|c.506+119G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=720;p3_1000G_AF=0.14377;p3_1000G_AFR_AF=0.1074;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=14946;p3_1000G_EAS_AF=0.255;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6215540;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:168,0,416
chr1	6159227	rs140568531;rs780324778	TCA	T	579.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.1;SOR=4.615;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs140568531;dbSNPBuildID=134,144;ANN=T|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|3/41|c.387+107_387+108delTG||||||	GT:AD:DP:GQ:PL	1/1:0,17:17:60:594,60,0
chr1	6159303	rs3827727	G	T	590.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.65;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.79;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-2.516;SOR=0.218;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3827727;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|3/41|c.387+33C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=881;p3_1000G_AF=0.175919;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=16127;p3_1000G_EAS_AF=0.255;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6219363;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=701,3259;ESP6500_AA_GTC=65,571,1344;ESP6500_CDS_SIZES=NM_015557.2:5865;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=216;ESP6500_EA_AC=485,6967;ESP6500_EA_GTC=19,447,3260;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015557.2:intron;ESP6500_GL=CHD5;ESP6500_GRCh38_POSITION=1:6159303;ESP6500_GTC=84,1018,4604;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015557.2:c.387+33C>A;ESP6500_MAF=6.5083,17.702,10.3926;ESP6500_TAC=1186,10226	GT:AD:DP:GQ:PL	0/1:21,22:43:99:619,0,521
chr1	6179877	rs70981314	C	CG	38.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.35;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs70981314;dbSNPBuildID=130;ANN=CG|intron_variant|MODIFIER|CHD5|CHD5|transcript|NM_015557.2|protein_coding|1/41|c.79+67dupC||||||;p3_1000G_AA=|||unknown(ALL_OTHER_Ns);p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=2537;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6239937;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0
chr1	6197766	rs2294714	T	C	679.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.065;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=8.263;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.05;SOR=0.568;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294714;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RPL22|RPL22|transcript|NM_000983.3|protein_coding|1/3|c.13-10A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1804;p3_1000G_AF=0.360224;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=21567;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.2773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6257826;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1883,2523;ESP6500_AA_AGE=537.5+/-374.7;ESP6500_AA_GTC=414,1055,734;ESP6500_CDS_SIZES=NM_000983.3:387;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=2151,6449;ESP6500_EA_AGE=361.1+/-332.2;ESP6500_EA_GTC=269,1613,2418;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000983.3:intron;ESP6500_GL=RPL22;ESP6500_GRCh38_POSITION=1:6197766;ESP6500_GTC=683,2668,3152;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000983.3:c.13-10A>G;ESP6500_MAF=25.0116,42.7372,31.0165;ESP6500_TAC=4034,8972	GT:AD:DP:GQ:PL	0/1:22,27:49:99:708,0,563
chr1	6197796	rs2294713	G	A	575.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.379;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.721;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.124;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294713;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RPL22|RPL22|transcript|NM_000983.3|protein_coding|1/3|c.13-40C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2833;p3_1000G_AF=0.565695;p3_1000G_AFR_AF=0.7481;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=21848;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6257856;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3173,1233;ESP6500_AA_GTC=1148,877,178;ESP6500_CDS_SIZES=NM_000983.3:387;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=22;ESP6500_EA_AC=3661,4939;ESP6500_EA_GTC=761,2139,1400;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000983.3:intron;ESP6500_GL=RPL22;ESP6500_GRCh38_POSITION=1:6197796;ESP6500_GTC=1909,3016,1578;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000983.3:c.13-40C>T;ESP6500_MAF=42.5698,27.9846,47.455;ESP6500_TAC=6834,6172	GT:AD:DP:GQ:PL	0/1:20,24:44:99:604,0,575
chr1	6245232	rs61760836	C	A	630.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.67;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61760836;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|HES3|HES3|transcript|NM_001024598.3|protein_coding|4/4|c.286C>A|p.Pro96Thr|351/697|286/561|96/186||,A|downstream_gene_variant|MODIFIER|GPR153|GPR153|transcript|NM_207370.2|protein_coding||c.*4106G>T|||||2114|;p3_1000G_AA=C|||;p3_1000G_AC=2794;p3_1000G_AF=0.557907;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=7447;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.6849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6305292;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1430,1518;ESP6500_AA_GTC=391,648,435;ESP6500_CDS_SIZES=NM_001024598.3:561;ESP6500_CG=2.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=2;ESP6500_EA_AC=4911,1731;ESP6500_EA_GTC=1926,1059,336;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001024598.3:missense;ESP6500_GL=HES3;ESP6500_GRCh38_POSITION=1:6245232;ESP6500_GS=38;ESP6500_GTC=2317,1707,771;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001024598.3:c.286C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001024598.3:p.(P96T);ESP6500_MAF=26.0614,48.5075,33.879;ESP6500_PH=benign:0.063;ESP6500_TAC=6341,3249	GT:AD:DP:GQ:PL	1/1:0,22:22:66:659,66,0
chr1	6245243	rs61760837	C	A	769.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61760837;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|HES3|HES3|transcript|NM_001024598.3|protein_coding|4/4|c.297C>A|p.Ala99Ala|362/697|297/561|99/186||,A|downstream_gene_variant|MODIFIER|GPR153|GPR153|transcript|NM_207370.2|protein_coding||c.*4095G>T|||||2103|;p3_1000G_AA=C|||;p3_1000G_AC=2792;p3_1000G_AF=0.557508;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=7640;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.6839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6305303;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1446,1378;ESP6500_AA_GTC=419,608,385;ESP6500_CDS_SIZES=NM_001024598.3:561;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=2;ESP6500_EA_AC=4876,1552;ESP6500_EA_GTC=1960,956,298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001024598.3:coding-synonymous;ESP6500_GL=HES3;ESP6500_GRCh38_POSITION=1:6245243;ESP6500_GTC=2379,1564,683;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001024598.3:c.297C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001024598.3:p.(A99);ESP6500_MAF=24.1444,48.796,31.6688;ESP6500_TAC=6322,2930	GT:AD:DP:GQ:PL	1/1:0,27:27:81:798,81,0
chr1	6249259	rs1883608	C	G	71.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1883608;dbSNPBuildID=92;ANN=G|3_prime_UTR_variant|MODIFIER|GPR153|GPR153|transcript|NM_207370.2|protein_coding|6/6|c.*79G>C|||||79|,G|downstream_gene_variant|MODIFIER|HES3|HES3|transcript|NM_001024598.3|protein_coding||c.*3752C>G|||||3681|;p3_1000G_AA=C|||;p3_1000G_AC=2862;p3_1000G_AF=0.571486;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=10314;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6309319;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0
chr1	6253878	rs12735670	C	T	1754.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=0.8;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12735670;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|GPR153|GPR153|transcript|NM_207370.2|protein_coding|3/6|c.626G>A|p.Arg209His|886/4082|626/1830|209/609||;p3_1000G_AA=C|||;p3_1000G_AC=3501;p3_1000G_AF=0.699081;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=17470;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.7117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6313938;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7035;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1783,171,0
chr1	6254419	rs12740426	C	T	942.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12740426;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|GPR153|GPR153|transcript|NM_207370.2|protein_coding|2/5|c.356+131G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2831;p3_1000G_AF=0.565296;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=21077;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6314479;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:971,84,0
chr1	6254762	rs11590458	T	C	2119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=1.078;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11590458;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|GPR153|GPR153|transcript|NM_207370.2|protein_coding|2/6|c.144A>G|p.Thr48Thr|404/4082|144/1830|48/609||;p3_1000G_AA=t|||;p3_1000G_AC=3663;p3_1000G_AF=0.73143;p3_1000G_AFR_AF=0.8086;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=20359;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.7127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6314822;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3485,921;ESP6500_AA_AGE=738.4+/-411.0;ESP6500_AA_GTC=1390,705,108;ESP6500_CDS_SIZES=NM_207370.2:1830;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=83;ESP6500_EA_AC=6033,2567;ESP6500_EA_AGE=690.9+/-404.5;ESP6500_EA_GTC=2128,1777,395;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207370.2:coding-synonymous;ESP6500_GL=GPR153;ESP6500_GRCh38_POSITION=1:6254762;ESP6500_GTC=3518,2482,503;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207370.2:c.144A>G;ESP6500_HGVS_PROTEIN_VAR=NM_207370.2:p.(T48);ESP6500_MAF=29.8488,20.9033,26.8184;ESP6500_TAC=9518,3488	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2148,195,0
chr1	6393460	rs76483502	C	CG	44.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.35;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs76483502;dbSNPBuildID=131;ANN=CG|5_prime_UTR_variant|MODIFIER|ACOT7|ACOT7|transcript|NM_007274.3|protein_coding|1/9|c.-62_-61insC|||||62|;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=4227;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6453520;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:81,6,0
chr1	6470905	rs111312565;rs112662590;~rs112662590	C	CG	279.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=4.804;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs112662590,rs111312565;dbSNPBuildID=132,132;ANN=CG|upstream_gene_variant|MODIFIER|TNFRSF25|TNFRSF25|transcript|NM_148965.1|protein_coding||c.-4799dupC|||||4711|,CG|upstream_gene_variant|MODIFIER|TNFRSF25|TNFRSF25|transcript|NM_003790.2|protein_coding||c.-4799dupC|||||4711|,CG|upstream_gene_variant|MODIFIER|TNFRSF25|TNFRSF25|transcript|NM_148966.1|protein_coding||c.-4799dupC|||||4711|,CG|upstream_gene_variant|MODIFIER|TNFRSF25|TNFRSF25|transcript|NM_148967.1|protein_coding||c.-4799dupC|||||4711|,CG|upstream_gene_variant|MODIFIER|TNFRSF25|TNFRSF25|transcript|NM_148970.1|protein_coding||c.-4799dupC|||||4711|,CG|upstream_gene_variant|MODIFIER|TNFRSF25|TNFRSF25|transcript|NM_001039664.1|protein_coding||c.-4799dupC|||||4711|,CG|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001265592.1|protein_coding|14/21|c.1630-22dupC||||||,CG|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001265593.1|protein_coding|13/20|c.1600-22dupC||||||,CG|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001042665.1|protein_coding|13/20|c.1393-22dupC||||||,CG|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001042664.1|protein_coding|13/20|c.1393-22dupC||||||,CG|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001265594.1|protein_coding|13/21|c.1393-22dupC||||||,CG|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_020631.4|protein_coding|13/20|c.1393-22dupC||||||,CG|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001042663.1|protein_coding|14/21|c.1561-22dupC||||||,CG|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_198681.3|protein_coding|14/21|c.1624-22dupC||||||;p3_1000G_AA=gggg|GGG|GGGG|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=10582;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6530965;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3822,20;ESP6500_AA_GTC=1909,4,8;ESP6500_CDS_SIZES=NM_198681.3:3252,NM_020631.4:3021,NM_001265594.1:2793,NM_001265593.1:3228,NM_001265592.1:3258,NM_001042665.1:3021,NM_001042664.1:3021,NM_001042663.1:3189;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=6;ESP6500_EA_AC=7491,55;ESP6500_EA_GTC=3738,15,20;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198681.3:intron,NM_020631.4:intron,NM_001265594.1:intron,NM_001265593.1:intron,NM_001265592.1:intron,NM_001042665.1:intron,NM_001042664.1:intron,NM_001042663.1:intron;ESP6500_GL=PLEKHG5;ESP6500_GRCh38_POSITION=1:6470905;ESP6500_GTC=5647,19,28;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_198681.3:c.1624-22_1624-21insC,NM_020631.4:c.1393-22_1393-21insC,NM_001265594.1:c.1393-22_1393-21insC,NM_001265593.1:c.1600-22_1600-21insC,NM_001265592.1:c.1630-22_1630-21insC,NM_001042665.1:c.1393-22_1393-21insC,NM_001042664.1:c.1393-22_1393-21insC,NM_001042663.1:c.1561-22_1561-21insC;ESP6500_MAF=0.7289,0.5206,0.6586;ESP6500_TAC=11313,75	GT:AD:DP:GQ:PL	1/1:0,10:10:32:317,32,0
chr1	6475194	rs1447640740	GCCCTCCTCCCCACCCTCCTTCCCACCCTCCTTCCCAA	G	137.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.68;ReadPosRankSum=-1.718;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001265592.1|protein_coding|5/21|c.448-93_448-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAGGAGGG||||||,G|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001265593.1|protein_coding|4/20|c.418-93_418-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAGGAGGG||||||,G|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001042665.1|protein_coding|4/20|c.211-93_211-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAGGAGGG||||||,G|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001042664.1|protein_coding|4/20|c.211-93_211-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAGGAGGG||||||,G|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001265594.1|protein_coding|4/21|c.211-93_211-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAGGAGGG||||||,G|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_020631.4|protein_coding|4/20|c.211-93_211-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAGGAGGG||||||,G|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_001042663.1|protein_coding|5/21|c.379-93_379-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAGGAGGG||||||,G|intron_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_198681.3|protein_coding|5/21|c.442-93_442-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAGGAGGG||||||	GT:AD:DP:GQ:PL	0/1:3,4:7:99:175,0,407
chr1	6519547	rs1556035;380860	C	T	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.212;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.111;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.65;SOR=0.52;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1556035;dbSNPBuildID=88;ANN=T|5_prime_UTR_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_198681.3|protein_coding|1/22|c.-36G>A|||||36|,T|downstream_gene_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding||c.*6307G>A|||||1800|;p3_1000G_AA=C|||;p3_1000G_AC=3736;p3_1000G_AF=0.746006;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=17595;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.8797;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6579607;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2293,1887;ESP6500_AA_GTC=629,1035,426;ESP6500_CDS_SIZES=NM_198681.3:3252;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=92;ESP6500_EA_AC=7478,960;ESP6500_EA_GTC=3317,844,58;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198681.3:utr-5;ESP6500_GL=PLEKHG5;ESP6500_GRCh38_POSITION=1:6519547;ESP6500_GTC=3946,1879,484;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198681.3:c.-36G>A;ESP6500_MAF=11.3771,45.1435,22.563;ESP6500_TAC=9771,2847;CLINVAR_ALLELEID=365374;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.6519547C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PLEKHG5:57449;CLINVAR_ORIGIN=1;CLINVAR_RS=1556035	GT:AD:DP:GQ:PL	0/1:31,20:51:99:505,0,834
chr1	6519593	rs41278014	G	C	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.953;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.983;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=-0.602;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41278014;dbSNPBuildID=127;ANN=C|5_prime_UTR_variant|MODIFIER|PLEKHG5|PLEKHG5|transcript|NM_198681.3|protein_coding|1/22|c.-82C>G|||||82|,C|downstream_gene_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding||c.*6261C>G|||||1754|;p3_1000G_AA=G|||;p3_1000G_AC=860;p3_1000G_AF=0.171725;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=17935;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6579653;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,19:27:99:522,0,197
chr1	6526010	rs7548042	C	T	1066.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7548042;dbSNPBuildID=116;ANN=T|splice_region_variant&intron_variant|LOW|NOL9|NOL9|transcript|NM_024654.4|protein_coding|11/11|c.1960-7G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4905;p3_1000G_AF=0.979433;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20393;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6586070;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4089,317;ESP6500_AA_AGE=169.1+/-199.8;ESP6500_AA_GTC=1903,283,17;ESP6500_CDS_SIZES=NM_024654.4:2109;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=87;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024654.4:intron;ESP6500_GL=NOL9;ESP6500_GRCh38_POSITION=1:6526010;ESP6500_GTC=6201,285,17;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024654.4:c.1960-7G>A;ESP6500_MAF=0.0233,7.1947,2.4527;ESP6500_TAC=12687,319	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1095,105,0
chr1	6533472	rs11122083	G	A	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.684;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.06;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122083;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding|6/11|c.1076-31C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=732;p3_1000G_AF=0.146166;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=21628;p3_1000G_EAS_AF=0.1667;p3_1000G_EUR_AF=0.1213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6593532;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=606,3798;ESP6500_AA_AGE=240.6+/-251.3;ESP6500_AA_GTC=29,548,1625;ESP6500_CDS_SIZES=NM_024654.4:2109;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=52;ESP6500_EA_AC=980,7620;ESP6500_EA_AGE=207.9+/-249.5;ESP6500_EA_GTC=58,864,3378;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024654.4:intron;ESP6500_GL=NOL9;ESP6500_GRCh38_POSITION=1:6533472;ESP6500_GTC=87,1412,5003;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024654.4:c.1076-31C>T;ESP6500_MAF=11.3953,13.7602,12.1962;ESP6500_TAC=1586,11418	GT:AD:DP:GQ:PL	0/1:7,16:23:99:415,0,156
chr1	6549503	rs112706751;rs34630031	CAT	C	322.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.41;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34630031,rs112706751;dbSNPBuildID=126,132;ANN=C|intron_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding|3/11|c.744+66_744+67delAT||||||;p3_1000G_AC=1015;p3_1000G_AF=0.202676;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=22804;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6609563;p3_1000G_GRCH37_REF=CAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:360,24,0
chr1	6549732	rs34858690	G	GT	11.08	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.282;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=-0.282;SOR=1.911;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34858690;dbSNPBuildID=126;ANN=GT|intron_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding|2/11|c.617-35dupA||||||;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=892;p3_1000G_AF=0.178115;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=20223;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.1143;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6609792;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=INDEL;ESP6500_AA_AC=1122,3144;ESP6500_AA_GTC=134,854,1145;ESP6500_CDS_SIZES=NM_024654.4:2109;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=73;ESP6500_EA_AC=921,7333;ESP6500_EA_GTC=53,815,3259;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024654.4:intron;ESP6500_GL=NOL9;ESP6500_GRCh38_POSITION=1:6549732;ESP6500_GTC=187,1669,4404;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024654.4:c.617-35_617-34insA;ESP6500_MAF=11.1582,26.301,16.3179;ESP6500_TAC=2043,10477	GT:AD:DP:GQ:PL	0/1:7,2:9:48:48,0,235
chr1	6549769	rs80082089	T	C	165.81	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.64;ReadPosRankSum=1.38;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80082089;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding|2/11|c.617-71A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=53;p3_1000G_AF=0.0105831;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=19910;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6609829;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,5:6:20:194,0,20
chr1	6549791	rs10864622	A	G	133.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10864622;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding|2/11|c.617-93T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4920;p3_1000G_AF=0.982428;p3_1000G_AFR_AF=0.938;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=19745;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6609851;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:161,12,0
chr1	6550277	rs113812945	C	T	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.625;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.58;ReadPosRankSum=0.518;SOR=3.014;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113812945;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding|2/11|c.616+119G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=53;p3_1000G_AF=0.0105831;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=17629;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6610337;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:352,0,127
chr1	6550740	rs112674170	A	G	47.88	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.78;MQRankSum=0.967;QD=15.96;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112674170;dbSNPBuildID=132;ANN=G|upstream_gene_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_138697.3|protein_coding||c.-4634A>G|||||4538|,G|upstream_gene_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_177540.2|protein_coding||c.-4634A>G|||||4538|,G|intron_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding|1/11|c.397-125T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=53;p3_1000G_AF=0.0105831;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=13793;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6610800;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:16:76,0,16
chr1	6554170	rs10864625	G	A	612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10864625;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|NOL9|NOL9|transcript|NM_024654.4|protein_coding|1/12|c.333C>T|p.Leu111Leu|429/6712|333/2109|111/702||,A|upstream_gene_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_138697.3|protein_coding||c.-1204G>A|||||1108|,A|upstream_gene_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_177540.2|protein_coding||c.-1204G>A|||||1108|;p3_1000G_AA=G|||;p3_1000G_AC=942;p3_1000G_AF=0.188099;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=11221;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.1322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6614230;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=630,2510;ESP6500_AA_GTC=41,548,981;ESP6500_CDS_SIZES=NM_024654.4:2109;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=7;ESP6500_EA_AC=559,5725;ESP6500_EA_GTC=19,521,2602;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024654.4:coding-synonymous;ESP6500_GL=NOL9;ESP6500_GRCh38_POSITION=1:6554170;ESP6500_GTC=60,1069,3583;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024654.4:c.333C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024654.4:p.(L111);ESP6500_MAF=8.8956,20.0637,12.6167;ESP6500_TAC=1189,8235	GT:AD:DP:GQ:PL	1/1:0,19:19:57:641,57,0
chr1	6554331	rs6693391	A	C	810.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.5;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6693391;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|NOL9|NOL9|transcript|NM_024654.4|protein_coding|1/12|c.172T>G|p.Ser58Ala|268/6712|172/2109|58/702||,C|upstream_gene_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_138697.3|protein_coding||c.-1043A>C|||||947|,C|upstream_gene_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_177540.2|protein_coding||c.-1043A>C|||||947|;p3_1000G_AA=C|||;p3_1000G_AC=4789;p3_1000G_AF=0.95627;p3_1000G_AFR_AF=0.8722;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=9026;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6614391;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2196,260;ESP6500_AA_GTC=975,246,7;ESP6500_CDS_SIZES=NM_024654.4:2109;ESP6500_CG=3.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=3;ESP6500_EA_AC=4875,25;ESP6500_EA_GTC=2425,25,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024654.4:missense;ESP6500_GL=NOL9;ESP6500_GRCh38_POSITION=1:6554331;ESP6500_GS=99;ESP6500_GTC=3400,271,7;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_024654.4:c.172T>G;ESP6500_HGVS_PROTEIN_VAR=NM_024654.4:p.(S58A);ESP6500_MAF=0.5102,10.5863,3.8744;ESP6500_PH=benign:0.0;ESP6500_TAC=7071,285	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:6554331_A_C:839,57,0
chr1	6554355	rs6693400	A	G	830.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.19;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6693400;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|NOL9|NOL9|transcript|NM_024654.4|protein_coding|1/12|c.148T>C|p.Trp50Arg|244/6712|148/2109|50/702||,G|upstream_gene_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_138697.3|protein_coding||c.-1019A>G|||||923|,G|upstream_gene_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_177540.2|protein_coding||c.-1019A>G|||||923|;p3_1000G_AA=G|||;p3_1000G_AC=4907;p3_1000G_AF=0.979832;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=8643;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6614415;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1625,149;ESP6500_AA_GTC=742,141,4;ESP6500_CDS_SIZES=NM_024654.4:2109;ESP6500_CG=4.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=3;ESP6500_EA_AC=3888,4;ESP6500_EA_GTC=1942,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024654.4:missense;ESP6500_GL=NOL9;ESP6500_GRCh38_POSITION=1:6554355;ESP6500_GS=101;ESP6500_GTC=2684,145,4;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024654.4:c.148T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024654.4:p.(W50R);ESP6500_MAF=0.1028,8.3991,2.7003;ESP6500_PH=benign:0.0;ESP6500_TAC=5513,153	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:60:1|1:6554331_A_C:859,60,0
chr1	6555409	rs75881102	G	C	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.104;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=0.358;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75881102;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|TAS1R1|TAS1R1|transcript|NM_138697.3|protein_coding|1/6|c.36G>C|p.Gln12His|132/2795|36/2526|12/841||,C|missense_variant|MODERATE|TAS1R1|TAS1R1|transcript|NM_177540.2|protein_coding|1/5|c.36G>C|p.Gln12His|132/2033|36/1764|12/587||,C|upstream_gene_variant|MODIFIER|NOL9|NOL9|transcript|NM_024654.4|protein_coding||c.-907C>G|||||811|;p3_1000G_AA=G|||;p3_1000G_AC=57;p3_1000G_AF=0.0113818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17306;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6615469;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4401;ESP6500_AA_GTC=0,1,2200;ESP6500_CDS_SIZES=NM_177540.2:1764,NM_138697.3:2526;ESP6500_CG=1.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=31;ESP6500_EA_AC=1,8585;ESP6500_EA_GTC=0,1,4292;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_177540.2:missense,NM_138697.3:missense;ESP6500_GL=TAS1R1;ESP6500_GRCh38_POSITION=1:6555409;ESP6500_GS=24,24;ESP6500_GTC=0,2,6492;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_177540.2:c.36G>C,NM_138697.3:c.36G>C;ESP6500_HGVS_PROTEIN_VAR=NM_177540.2:p.(Q12H),NM_138697.3:p.(Q12H);ESP6500_MAF=0.0116,0.0227,0.0154;ESP6500_PH=benign:0.222,benign:0.222;ESP6500_TAC=2,12986	GT:AD:DP:GQ:PL	0/1:20,12:32:99:235,0,572
chr1	6571259	rs11122096	G	A	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.004;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-0.446;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122096;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_138697.3|protein_coding|2/5|c.498+44G>A||||||,A|intron_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_177540.2|protein_coding|2/4|c.498+44G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4450;p3_1000G_AF=0.888578;p3_1000G_AFR_AF=0.6717;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=19311;p3_1000G_EAS_AF=0.9385;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6631319;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3218,1188;ESP6500_AA_GTC=1192,834,177;ESP6500_CDS_SIZES=NM_177540.2:1764,NM_138697.3:2526;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=25;ESP6500_EA_AC=8492,108;ESP6500_EA_GTC=4194,104,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_177540.2:intron,NM_138697.3:intron;ESP6500_GL=TAS1R1;ESP6500_GRCh38_POSITION=1:6571259;ESP6500_GTC=5386,938,179;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_177540.2:c.498+44G>A,NM_138697.3:c.498+44G>A;ESP6500_MAF=1.2558,26.9632,9.9646;ESP6500_TAC=11710,1296	GT:AD:DP:GQ:PL	0/1:6,8:14:99:257,0,207
chr1	6575171	rs10864628	A	G	1864.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10864628;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|TAS1R1|TAS1R1|transcript|NM_138697.3|protein_coding|3/6|c.1039A>G|p.Lys347Glu|1135/2795|1039/2526|347/841||,G|upstream_gene_variant|MODIFIER|ZBTB48|ZBTB48|transcript|NM_001278647.1|protein_coding||c.-5439A>G|||||4820|,G|upstream_gene_variant|MODIFIER|ZBTB48|ZBTB48|transcript|NM_001278648.1|protein_coding||c.-5439A>G|||||4820|,G|upstream_gene_variant|MODIFIER|ZBTB48|ZBTB48|transcript|NM_005341.3|protein_coding||c.-5439A>G|||||4820|,G|intron_variant|MODIFIER|TAS1R1|TAS1R1|transcript|NM_177540.2|protein_coding|2/4|c.499-1244A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4624;p3_1000G_AF=0.923323;p3_1000G_AFR_AF=0.7216;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=19168;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6635231;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3368,1038;ESP6500_AA_AGE=375.4+/-321.6;ESP6500_AA_GTC=1301,766,136;ESP6500_CDS_SIZES=NM_177540.2:1764,NM_138697.3:2526;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=8594,6;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4294,6,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_177540.2:intron,NM_138697.3:missense;ESP6500_GL=TAS1R1;ESP6500_GRCh38_POSITION=1:6575171;ESP6500_GS=.,56;ESP6500_GTC=5595,772,136;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_177540.2:c.499-1244A>G,NM_138697.3:c.1039A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_138697.3:p.(K347E);ESP6500_MAF=0.0698,23.5588,8.0271;ESP6500_PH=.,benign:0.056;ESP6500_TAC=11962,1044	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1893,156,0
chr1	6887657	rs3810982	C	T	994.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.42;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3810982;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|CAMTA1|CAMTA1|transcript|NM_001242701.1|protein_coding|4/4|c.238C>T|p.Leu80Phe|445/989|238/306|80/101||,T|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|3/22|c.234+62447C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NR_038934.1|pseudogene|4/4|n.459C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1043;p3_1000G_AF=0.208267;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=17216;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6947717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1023,105,0
chr1	7467764	rs72642857	C	T	752.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.231;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=3.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.947;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72642857;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|5/22|c.439-66C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=288;p3_1000G_AF=0.057508;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=16987;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.0139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7527824;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:39,31:70:99:781,0,1180
chr1	7640614	rs12743421	C	T	482.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.63;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.785;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.727;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12743421;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|7/22|c.664+61C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=510;p3_1000G_AF=0.101837;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=17499;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.0726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7700674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,20:38:99:511,0,519
chr1	7677739	rs3011926	A	G	1843.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=1.835;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3011926;dbSNPBuildID=101;ANN=G|splice_region_variant&intron_variant|LOW|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|11/22|c.2914+6A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2963;p3_1000G_AF=0.591653;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=20085;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.5686;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7737799;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2579,1827;ESP6500_AA_AGE=634.6+/-396.2;ESP6500_AA_GTC=760,1059,384;ESP6500_CDS_SIZES=NM_015215.2:5022;ESP6500_CG=-0.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=64;ESP6500_EA_AC=4656,3944;ESP6500_EA_AGE=600.8+/-394.3;ESP6500_EA_GTC=1258,2140,902;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015215.2:intron;ESP6500_GL=CAMTA1;ESP6500_GRCh38_POSITION=1:7677739;ESP6500_GTC=2018,3199,1286;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015215.2:c.2914+6A>G;ESP6500_MAF=45.8605,41.4662,44.3718;ESP6500_TAC=7235,5771	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1872,162,0
chr1	7732351	rs2301488	C	T	86.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.113;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.78;ReadPosRankSum=0;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2301488;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|11/22|c.2915-97C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2281;p3_1000G_AF=0.455471;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=16726;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.4533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7792411;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,5:15:99:0|1:7732351_C_T:115,0,334
chr1	7736581	rs2071985	A	G	705.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.31;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.68;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2071985;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|13/22|c.3263+41A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2638;p3_1000G_AF=0.526757;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=17100;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.4821;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7796641;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2186,2220;ESP6500_AA_AGE=589.6+/-387.2;ESP6500_AA_GTC=567,1052,584;ESP6500_CDS_SIZES=NM_015215.2:5022;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=45;ESP6500_EA_AC=4380,4220;ESP6500_EA_AGE=570.6+/-389.4;ESP6500_EA_GTC=1119,2142,1039;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015215.2:intron;ESP6500_GL=CAMTA1;ESP6500_GRCh38_POSITION=1:7736581;ESP6500_GTC=1686,3194,1623;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015215.2:c.3263+41A>G;ESP6500_MAF=49.0698,49.6142,49.5156;ESP6500_TAC=6566,6440	GT:AD:DP:GQ:PL	0/1:28,26:54:99:734,0,708
chr1	7737674	rs1417986	T	A	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.846;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=-0.884;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1417986;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|15/22|c.3658+104T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3001;p3_1000G_AF=0.599241;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=20231;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7797734;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,14:23:99:405,0,290
chr1	7747837	rs12133253	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.31;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.92;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=1.52;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12133253;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|19/22|c.4689+56A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3034;p3_1000G_AF=0.605831;p3_1000G_AFR_AF=0.5779;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=17877;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.7157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7807897;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=836,548;ESP6500_AA_GTC=255,326,111;ESP6500_CDS_SIZES=NM_015215.2:5022;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=2298,884;ESP6500_EA_GTC=830,638,123;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015215.2:intron;ESP6500_GL=CAMTA1;ESP6500_GRCh38_POSITION=1:7747837;ESP6500_GTC=1085,964,234;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015215.2:c.4689+56A>G;ESP6500_MAF=27.7813,39.5954,31.3622;ESP6500_TAC=3134,1432	GT:AD:DP:GQ:PL	0/1:5,8:13:99:255,0,100
chr1	7749668	rs60799863	C	CT	117.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.68;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-0.542;SOR=0.61;INS;HET;VARTYPE=INS;dbSNP138_ID=rs60799863;dbSNPBuildID=137;ANN=CT|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|19/22|c.4690-1519dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2850;p3_1000G_AF=0.569089;p3_1000G_AFR_AF=0.5772;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=17490;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.6551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7809728;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:22,10:32:99:155,0,524
chr1	7751155	rs10779689	A	G	281.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10779689;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|19/22|c.4690-44A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3085;p3_1000G_AF=0.616014;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=16134;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.7167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7811215;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2764,1642;ESP6500_AA_GTC=864,1036,303;ESP6500_CDS_SIZES=NM_015215.2:5022;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=143;ESP6500_EA_AC=6115,2485;ESP6500_EA_GTC=2187,1741,372;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015215.2:intron;ESP6500_GL=CAMTA1;ESP6500_GRCh38_POSITION=1:7751155;ESP6500_GTC=3051,2777,675;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015215.2:c.4690-44A>G;ESP6500_MAF=28.8953,37.2674,31.7315;ESP6500_TAC=8879,4127	GT:AD:DP:GQ:PL	1/1:0,9:9:27:310,27,0
chr1	7752338	rs9919223	A	G	339.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.34;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=9.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-1.852;SOR=0.032;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9919223;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CAMTA1|CAMTA1|transcript|NM_015215.3|protein_coding|20/22|c.4884-121A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3148;p3_1000G_AF=0.628594;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=20074;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.7177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7812398;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,12:21:99:368,0,226
chr1	7785635	rs228729	T	C	398.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=-0.732;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs228729;dbSNPBuildID=79;ANN=C|downstream_gene_variant|MODIFIER|VAMP3|VAMP3|transcript|NM_004781.3|protein_coding||c.*5990T>C|||||4203|,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289862.1|protein_coding|3/21|c.274+49T>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289861.1|protein_coding|3/22|c.274+49T>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289863.1|protein_coding|3/22|c.274+49T>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289864.1|protein_coding|3/21|c.-745+49T>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_016831.2|protein_coding|3/21|c.274+49T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3628;p3_1000G_AF=0.724441;p3_1000G_AFR_AF=0.7776;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=18563;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7845695;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3310,1096;ESP6500_AA_AGE=384.4+/-325.3;ESP6500_AA_GTC=1252,806,145;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=35;ESP6500_EA_AC=5659,2941;ESP6500_EA_AGE=450.9+/-362.5;ESP6500_EA_GTC=1872,1915,513;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:intron;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7785635;ESP6500_GTC=3124,2721,658;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.274+49T>C;ESP6500_MAF=34.1977,24.8752,31.0395;ESP6500_TAC=8969,4037	GT:AD:DP:GQ:PL	0/1:7,12:19:99:427,0,174
chr1	7801244	rs707465	T	C	289.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs707465;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289862.1|protein_coding|8/21|c.872+53T>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289861.1|protein_coding|8/22|c.872+53T>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289863.1|protein_coding|8/22|c.872+53T>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289864.1|protein_coding|8/21|c.-86+53T>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_016831.2|protein_coding|8/21|c.869+53T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2238;p3_1000G_AF=0.446885;p3_1000G_AFR_AF=0.5832;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=15646;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.3748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7861304;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=768,616;ESP6500_AA_GTC=207,354,131;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=20;ESP6500_EA_AC=1067,2105;ESP6500_EA_GTC=191,685,710;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:intron;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7801244;ESP6500_GTC=398,1039,841;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.869+53T>C;ESP6500_MAF=33.6381,44.5087,40.2766;ESP6500_TAC=1835,2721	GT:AD:DP:GQ:PL	1/1:0,10:10:30:318,30,0
chr1	7809855	rs228668	G	C	1372.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.72;SOR=2.554;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs228668;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289862.1|protein_coding|11/21|c.1243-38G>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289861.1|protein_coding|11/22|c.1243-38G>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289863.1|protein_coding|11/22|c.1243-38G>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289864.1|protein_coding|11/21|c.286-38G>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_016831.2|protein_coding|11/21|c.1240-38G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4889;p3_1000G_AF=0.976238;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=17632;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7869915;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4292,112;ESP6500_AA_GTC=2092,108,2;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=19;ESP6500_EA_AC=8210,386;ESP6500_EA_GTC=3927,356,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:intron;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7809855;ESP6500_GTC=6019,464,17;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.1240-38G>C;ESP6500_MAF=4.4905,2.5431,3.8308;ESP6500_TAC=12502,498	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1401,114,0
chr1	7809988	rs228669	T	C	2384.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=0.824;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs228669;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289862.1|protein_coding|12/22|c.1338T>C|p.Ser446Ser|1602/6322|1338/3633|446/1210||,C|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289861.1|protein_coding|12/23|c.1338T>C|p.Ser446Ser|1602/6265|1338/3576|446/1191||,C|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289863.1|protein_coding|12/23|c.1338T>C|p.Ser446Ser|1602/6244|1338/3555|446/1184||,C|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289864.1|protein_coding|12/22|c.381T>C|p.Ser127Ser|1663/6380|381/2673|127/890||,C|synonymous_variant|LOW|PER3|PER3|transcript|NM_016831.2|protein_coding|12/22|c.1335T>C|p.Ser445Ser|1599/6295|1335/3606|445/1201||;p3_1000G_AA=C|||;p3_1000G_AC=4402;p3_1000G_AF=0.878994;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=17506;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.9324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7870048;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9427;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4231,175;ESP6500_AA_AGE=115.0+/-153.0;ESP6500_AA_GTC=2031,169,3;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=-3.5;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=90;ESP6500_EA_AC=7961,639;ESP6500_EA_AGE=165.4+/-217.5;ESP6500_EA_GTC=3691,579,30;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:coding-synonymous;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7809988;ESP6500_GTC=5722,748,33;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.1335T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016831.1:p.(S445);ESP6500_MAF=7.4302,3.9719,6.2586;ESP6500_TAC=12192,814	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2413,237,0
chr1	7810084	rs228670	A	C	2075.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=4.523;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=30.53;ReadPosRankSum=-0.469;SOR=1.326;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs228670;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289862.1|protein_coding|12/21|c.1371+63A>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289861.1|protein_coding|12/22|c.1371+63A>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289863.1|protein_coding|12/22|c.1371+63A>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289864.1|protein_coding|12/21|c.414+63A>C||||||,C|intron_variant|MODIFIER|PER3|PER3|transcript|NM_016831.2|protein_coding|12/21|c.1368+63A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4889;p3_1000G_AF=0.976238;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=19860;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7870144;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,67:68:99:2104,193,0
chr1	7827188	rs2859387	G	A	754.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2859387;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289862.1|protein_coding|18/22|c.2259G>A|p.Pro753Pro|2523/6322|2259/3633|753/1210||,A|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289861.1|protein_coding|18/23|c.2259G>A|p.Pro753Pro|2523/6265|2259/3576|753/1191||,A|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289863.1|protein_coding|18/23|c.2238G>A|p.Pro746Pro|2502/6244|2238/3555|746/1184||,A|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289864.1|protein_coding|18/22|c.1302G>A|p.Pro434Pro|2584/6380|1302/2673|434/890||,A|synonymous_variant|LOW|PER3|PER3|transcript|NM_016831.2|protein_coding|18/22|c.2235G>A|p.Pro745Pro|2499/6295|2235/3606|745/1201||;p3_1000G_AA=G|||;p3_1000G_AC=2588;p3_1000G_AF=0.516773;p3_1000G_AFR_AF=0.5333;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=14514;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7887248;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2207,2153;ESP6500_AA_GTC=589,1029,562;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=3035,5501;ESP6500_EA_GTC=587,1861,1820;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:coding-synonymous;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7827188;ESP6500_GTC=1176,2890,2382;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.2235G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016831.1:p.(P745);ESP6500_MAF=35.5553,49.3807,40.6483;ESP6500_TAC=5242,7654	GT:AD:DP:GQ:PL	1/1:0,22:22:66:783,66,0
chr1	7827344	rs35733104	C	T	1095.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.344;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=1.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.283;SOR=1.001;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35733104;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289862.1|protein_coding|18/22|c.2415C>T|p.Tyr805Tyr|2679/6322|2415/3633|805/1210||,T|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289861.1|protein_coding|18/23|c.2415C>T|p.Tyr805Tyr|2679/6265|2415/3576|805/1191||,T|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289863.1|protein_coding|18/23|c.2394C>T|p.Tyr798Tyr|2658/6244|2394/3555|798/1184||,T|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289864.1|protein_coding|18/22|c.1458C>T|p.Tyr486Tyr|2740/6380|1458/2673|486/890||,T|synonymous_variant|LOW|PER3|PER3|transcript|NM_016831.2|protein_coding|18/22|c.2391C>T|p.Tyr797Tyr|2655/6295|2391/3606|797/1201||;p3_1000G_AA=C|||;p3_1000G_AC=81;p3_1000G_AF=0.0161741;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14507;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7887404;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,4403;ESP6500_AA_AGE=6.2+/-15.9;ESP6500_AA_GTC=0,3,2200;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=49;ESP6500_EA_AC=8,8592;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=0,8,4292;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:coding-synonymous;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7827344;ESP6500_GTC=0,11,6492;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.2391C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016831.1:p.(Y797);ESP6500_MAF=0.093,0.0681,0.0846;ESP6500_TAC=11,12995	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1124,0,1282
chr1	7827433	rs228696	T	C	4315.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=135;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs228696;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|PER3|PER3|transcript|NM_001289862.1|protein_coding|18/22|c.2504T>C|p.Leu835Pro|2768/6322|2504/3633|835/1210||,C|missense_variant|MODERATE|PER3|PER3|transcript|NM_001289861.1|protein_coding|18/23|c.2504T>C|p.Leu835Pro|2768/6265|2504/3576|835/1191||,C|missense_variant|MODERATE|PER3|PER3|transcript|NM_001289863.1|protein_coding|18/23|c.2483T>C|p.Leu828Pro|2747/6244|2483/3555|828/1184||,C|missense_variant|MODERATE|PER3|PER3|transcript|NM_001289864.1|protein_coding|18/22|c.1547T>C|p.Leu516Pro|2829/6380|1547/2673|516/890||,C|missense_variant|MODERATE|PER3|PER3|transcript|NM_016831.2|protein_coding|18/22|c.2480T>C|p.Leu827Pro|2744/6295|2480/3606|827/1201||;p3_1000G_AA=C|||;p3_1000G_AC=4884;p3_1000G_AF=0.97524;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=17628;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7887493;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4288,118;ESP6500_AA_AGE=88.7+/-127.4;ESP6500_AA_GTC=2087,114,2;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=96;ESP6500_EA_AC=8211,389;ESP6500_EA_AGE=126.3+/-184.8;ESP6500_EA_GTC=3926,359,15;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016831.1:missense;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7827433;ESP6500_GS=98;ESP6500_GTC=6013,473,17;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.2480T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016831.1:p.(L827P);ESP6500_MAF=4.5233,2.6782,3.8982;ESP6500_PH=benign:0.0;ESP6500_TAC=12499,507	GT:AD:DP:GQ:PL	1/1:0,134:134:99:4344,402,0
chr1	7829744	rs228701	C	G	2747.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.84;SOR=4.438;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs228701;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289862.1|protein_coding|18/21|c.2887-90C>G||||||,G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289861.1|protein_coding|18/22|c.2887-93C>G||||||,G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289863.1|protein_coding|18/22|c.2866-93C>G||||||,G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289864.1|protein_coding|18/21|c.1930-93C>G||||||,G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_016831.2|protein_coding|18/21|c.2863-93C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3508;p3_1000G_AF=0.700479;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=22790;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7889804;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2776,208,0
chr1	7829881	rs2640908	C	T	6206.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=194;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.4;QD=31.99;SOR=1.411;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2640908;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289862.1|protein_coding|19/22|c.2934C>T|p.Thr978Thr|3198/6322|2934/3633|978/1210||,T|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289861.1|protein_coding|19/23|c.2931C>T|p.Thr977Thr|3195/6265|2931/3576|977/1191||,T|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289863.1|protein_coding|19/23|c.2910C>T|p.Thr970Thr|3174/6244|2910/3555|970/1184||,T|synonymous_variant|LOW|PER3|PER3|transcript|NM_001289864.1|protein_coding|19/22|c.1974C>T|p.Thr658Thr|3256/6380|1974/2673|658/890||,T|synonymous_variant|LOW|PER3|PER3|transcript|NM_016831.2|protein_coding|19/22|c.2907C>T|p.Thr969Thr|3171/6295|2907/3606|969/1201||;p3_1000G_AA=C|||;p3_1000G_AC=1524;p3_1000G_AF=0.304313;p3_1000G_AFR_AF=0.3154;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=20352;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.1978;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7889941;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1333,3073;ESP6500_AA_AGE=447.3+/-348.3;ESP6500_AA_GTC=201,931,1071;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=124;ESP6500_EA_AC=1618,6982;ESP6500_EA_AGE=299.8+/-304.6;ESP6500_EA_GTC=160,1298,2842;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:coding-synonymous;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7829881;ESP6500_GTC=361,2229,3913;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.2907C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016831.1:p.(T969);ESP6500_MAF=18.814,30.2542,22.6895;ESP6500_TAC=2951,10055	GT:AD:DP:GQ:PL	1/1:0,194:194:99:6235,583,0
chr1	7829912	rs57875989;~rs57875989	GAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA	G	4044.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=208;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.4;QD=25.31;SOR=0.714;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57875989;dbSNPBuildID=129;ANN=G|frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PER3|PER3|transcript|NM_001289861.1|protein_coding|20/23|c.3002-13_3042delGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC|p.Gly1001fs||3002/3576|1001/1191||INFO_REALIGN_3_PRIME,G|frameshift_variant&splice_acceptor_variant&splice_region_variant&intron_variant|HIGH|PER3|PER3|transcript|NM_001289863.1|protein_coding|20/23|c.2981-13_3021delGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC|p.Gly994fs||2981/3555|994/1184||INFO_REALIGN_3_PRIME,G|conservative_inframe_deletion|MODERATE|PER3|PER3|transcript|NM_001289862.1|protein_coding|19/22|c.3046_3099delGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC|p.Ala1016_Ser1033del|3310/6322|3046/3633|1016/1210||INFO_REALIGN_3_PRIME,G|conservative_inframe_deletion|MODERATE|PER3|PER3|transcript|NM_001289864.1|protein_coding|19/22|c.2086_2139delGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC|p.Ala696_Ser713del|3368/6380|2086/2673|696/890||INFO_REALIGN_3_PRIME,G|conservative_inframe_deletion|MODERATE|PER3|PER3|transcript|NM_016831.2|protein_coding|19/22|c.3019_3072delGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC|p.Ala1007_Ser1024del|3283/6295|3019/3606|1007/1201||INFO_REALIGN_3_PRIME,G|sequence_feature|MODERATE|PER3|PER3|modified-residue:phosphoserine|NM_016831.2|protein_coding|19/22|c.2939_2992delAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA||||||,G|sequence_feature|LOW|PER3|PER3|repeat:2|NM_016831.2|protein_coding|19/22|c.2939_2992delAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGA||||||;LOF=(PER3|PER3|5|0.40);ESP6500_AA_AC=372,2452;ESP6500_AA_GTC=185,2,1225;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=149;ESP6500_EA_AC=847,3943;ESP6500_EA_GTC=423,1,1971;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:coding;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7829912;ESP6500_GTC=608,3,3196;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.2939_2992del54;ESP6500_HGVS_PROTEIN_VAR=NM_016831.1:p.(E980_K998delinsE);ESP6500_MAF=17.6827,13.1728,16.01;ESP6500_TAC=1219,6395	GT:AD:DP:GQ:PL	1/1:0,95:95:99:4082,335,0
chr1	7830204	rs1773135	A	G	3132.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=3.967;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1773135;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289862.1|protein_coding|19/21|c.3214+43A>G||||||,G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289861.1|protein_coding|20/22|c.3157+43A>G||||||,G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289863.1|protein_coding|20/22|c.3136+43A>G||||||,G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_001289864.1|protein_coding|19/21|c.2254+43A>G||||||,G|intron_variant|MODIFIER|PER3|PER3|transcript|NM_016831.2|protein_coding|19/21|c.3187+43A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3510;p3_1000G_AF=0.700879;p3_1000G_AFR_AF=0.6271;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=23398;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7890264;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2809,1597;ESP6500_AA_AGE=494.8+/-363.1;ESP6500_AA_GTC=909,991,303;ESP6500_CDS_SIZES=NM_016831.1:3606;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=43;ESP6500_EA_AC=5647,2953;ESP6500_EA_AGE=458.5+/-364.6;ESP6500_EA_GTC=1870,1907,523;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016831.1:intron;ESP6500_GL=PER3;ESP6500_GRCh38_POSITION=1:7830204;ESP6500_GTC=2779,2898,826;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016831.1:c.3187+43A>G;ESP6500_MAF=34.3372,36.246,34.9839;ESP6500_TAC=8456,4550	GT:AD:DP:GQ:PL	1/1:0,80:80:99:3161,241,0
chr1	7847911	rs707473;rs531416825	C	A	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.909;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=1.81;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs707473;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|PER3|PER3|transcript|NM_001289862.1|protein_coding||c.*5156C>A|||||2731|,A|downstream_gene_variant|MODIFIER|PER3|PER3|transcript|NM_001289861.1|protein_coding||c.*5156C>A|||||2731|,A|downstream_gene_variant|MODIFIER|PER3|PER3|transcript|NM_001289863.1|protein_coding||c.*5156C>A|||||2731|,A|downstream_gene_variant|MODIFIER|PER3|PER3|transcript|NM_001289864.1|protein_coding||c.*5156C>A|||||2731|,A|downstream_gene_variant|MODIFIER|PER3|PER3|transcript|NM_016831.2|protein_coding||c.*5156C>A|||||2731|,A|intron_variant|MODIFIER|UTS2|UTS2|transcript|NM_021995.2|protein_coding|4/4|c.304-29G>T||||||,A|intron_variant|MODIFIER|UTS2|UTS2|transcript|NM_006786.3|protein_coding|3/3|c.259-29G>T||||||;p3_1000G_AC=1272;p3_1000G_AF=0.253994;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=18677;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7907971;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP,INDEL;ESP6500_AA=C;ESP6500_AA_AC=1017,3389;ESP6500_AA_GTC=185,647,1371;ESP6500_CDS_SIZES=NM_021995.2:420,NM_006786.3:375;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=43;ESP6500_EA_AC=1283,7317;ESP6500_EA_GTC=148,987,3165;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021995.2:intron,NM_006786.3:intron;ESP6500_GL=UTS2;ESP6500_GRCh38_POSITION=1:7847911;ESP6500_GTC=333,1634,4536;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_021995.2:c.304-29G>T,NM_006786.3:c.259-29G>T;ESP6500_MAF=14.9186,23.0822,17.6841;ESP6500_TAC=2300,10706	GT:AD:DP:GQ:PL	0/1:8,7:15:99:163,0,210
chr1	7921974	rs161827	T	C	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.619;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=5.343;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.958;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs161827;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|TNFRSF9|TNFRSF9|transcript|NM_001561.5|protein_coding|8/8|c.680-1051A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1181;p3_1000G_AF=0.235823;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=16373;p3_1000G_EAS_AF=0.5506;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7982034;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,29:60:99:670,0,754
chr1	7936418	rs57336248;rs71567331;rs768719370;rs9657973	A	AAAAC	112.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.15;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.242;SOR=0.368;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57336248,rs71567331,rs9657973;dbSNPBuildID=119,144,130,137;ANN=AAAAC|intron_variant|MODIFIER|TNFRSF9|TNFRSF9|transcript|NM_001561.5|protein_coding|6/8|c.413+1268_413+1271dupGTTT||||||;p3_1000G_AC=1765;p3_1000G_AF=0.352436;p3_1000G_AFR_AF=0.4281;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=26220;p3_1000G_EAS_AF=0.5952;p3_1000G_EUR_AF=0.1839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7996478;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,4:10:99:150,0,303
chr1	7936574	rs226478	A	G	664.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs226478;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|TNFRSF9|TNFRSF9|transcript|NM_001561.5|protein_coding|6/8|c.413+1116T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4288;p3_1000G_AF=0.85623;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=17802;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7996634;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:693,66,0
chr1	7938903	rs226476	T	G	218.94	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.37;ReadPosRankSum=-0.674;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs226476;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|TNFRSF9|TNFRSF9|transcript|NM_001561.5|protein_coding|3/8|c.101-75A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4948;p3_1000G_AF=0.988019;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=20055;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9602;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7998963;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,7:8:14:247,14,0
chr1	7970994	rs389298	G	A	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.321;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.736;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs389298;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|PARK7|PARK7|transcript|NM_001123377.1|protein_coding|5/6|c.322+31G>A||||||,A|intron_variant|MODIFIER|PARK7|PARK7|transcript|NM_007262.4|protein_coding|5/6|c.322+31G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=857;p3_1000G_AF=0.171126;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=17159;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8031054;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=203,4203;ESP6500_AA_AGE=125.3+/-162.5;ESP6500_AA_GTC=6,191,2006;ESP6500_CDS_SIZES=NM_007262.4:570,NM_001123377.1:570;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=78;ESP6500_EA_AC=35,8565;ESP6500_EA_AGE=24.0+/-70.4;ESP6500_EA_GTC=0,35,4265;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007262.4:intron,NM_001123377.1:intron;ESP6500_GL=PARK7;ESP6500_GRCh38_POSITION=1:7970994;ESP6500_GTC=6,226,6271;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007262.4:c.322+31G>A,NM_001123377.1:c.322+31G>A;ESP6500_MAF=0.407,4.6074,1.8299;ESP6500_TAC=238,12768	GT:AD:DP:GQ:PL	0/1:6,7:13:99:196,0,176
chr1	7984845	rs2235733	T	C	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.463;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.52;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=1.6;SOR=1.123;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235733;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|PARK7|PARK7|transcript|NM_001123377.1|protein_coding|6/6|c.410-49T>C||||||,C|intron_variant|MODIFIER|PARK7|PARK7|transcript|NM_007262.4|protein_coding|6/6|c.410-49T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=75;p3_1000G_AF=0.014976;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20760;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8044905;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=12,4394;ESP6500_AA_AGE=16.8+/-37.8;ESP6500_AA_GTC=0,12,2191;ESP6500_CDS_SIZES=NM_007262.4:570,NM_001123377.1:570;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=51;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007262.4:intron,NM_001123377.1:intron;ESP6500_GL=PARK7;ESP6500_GRCh38_POSITION=1:7984845;ESP6500_GTC=0,12,6491;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007262.4:c.410-49T>C,NM_001123377.1:c.410-49T>C;ESP6500_MAF=0.0,0.2724,0.0923;ESP6500_TAC=12,12994	GT:AD:DP:GQ:PL	0/1:16,12:28:99:277,0,401
chr1	8324208	rs6702047	T	C	313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6702047;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SLC45A1|SLC45A1|transcript|NM_001080397.2|protein_coding|1/8|c.79-98T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4870;p3_1000G_AF=0.972444;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=15033;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8384268;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:342,30,0
chr1	8330153	rs2289730	G	A	280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.591;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-1.129;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289730;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SLC45A1|SLC45A1|transcript|NM_001080397.2|protein_coding|4/8|c.818-56G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=271;p3_1000G_AF=0.0541134;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=15945;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8390213;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,13:30:99:309,0,453
chr1	8330435	rs1058619	A	G	1878.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.571;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=4.921;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.84;ReadPosRankSum=-0.512;SOR=1.591;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1058619;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|SLC45A1|SLC45A1|transcript|NM_001080397.2|protein_coding|5/9|c.1044A>G|p.Pro348Pro|1068/2527|1044/2349|348/782||;p3_1000G_AA=G|||;p3_1000G_AC=3888;p3_1000G_AF=0.776358;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=12425;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.7366;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8390495;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3280,1112;ESP6500_AA_GTC=1218,844,134;ESP6500_CDS_SIZES=NM_001080397.1:2247;ESP6500_CG=-6.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=15;ESP6500_EA_AC=6365,2213;ESP6500_EA_GTC=2369,1627,293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080397.1:coding-synonymous;ESP6500_GL=SLC45A1;ESP6500_GRCh38_POSITION=1:8330435;ESP6500_GTC=3587,2471,427;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080397.1:c.942A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001080397.1:p.(P314);ESP6500_MAF=25.7986,25.3188,25.6361;ESP6500_TAC=9645,3325	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,58:59:99:1|1:8330435_A_G:1907,140,0
chr1	8337743	rs7520373	C	T	600.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7520373;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SLC45A1|SLC45A1|transcript|NM_001080397.2|protein_coding|6/8|c.1700-73C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1571;p3_1000G_AF=0.313698;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=19263;p3_1000G_EAS_AF=0.6438;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8397803;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:629,57,0
chr1	8358584	rs11121172	C	A	1136.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11121172;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|RERE|RERE|transcript|NM_001042681.1|protein_coding|20/23|c.3951G>T|p.Arg1317Arg|4576/8009|3951/4701|1317/1566||,A|synonymous_variant|LOW|RERE|RERE|transcript|NM_001042682.1|protein_coding|10/13|c.2289G>T|p.Arg763Arg|2875/6308|2289/3039|763/1012||,A|synonymous_variant|LOW|RERE|RERE|transcript|NM_012102.3|protein_coding|21/24|c.3951G>T|p.Arg1317Arg|4761/8194|3951/4701|1317/1566||;p3_1000G_AA=A|||;p3_1000G_AC=3994;p3_1000G_AF=0.797524;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=12531;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.669;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8418644;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3652,718;ESP6500_AA_GTC=1535,582,68;ESP6500_CDS_SIZES=NM_012102.3:4701,NM_001042682.1:3039,NM_001042681.1:4701;ESP6500_CG=-11.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=21;ESP6500_EA_AC=5816,2770;ESP6500_EA_GTC=1974,1868,451;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012102.3:coding-synonymous,NM_001042682.1:coding-synonymous,NM_001042681.1:coding-synonymous;ESP6500_GL=RERE;ESP6500_GRCh38_POSITION=1:8358584;ESP6500_GTC=3509,2450,519;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_012102.3:c.3951G>T,NM_001042682.1:c.2289G>T,NM_001042681.1:c.3951G>T;ESP6500_HGVS_PROTEIN_VAR=NM_012102.3:p.(R1317),NM_001042682.1:p.(R763),NM_001042681.1:p.(R1317);ESP6500_MAF=32.2618,16.4302,26.9219;ESP6500_TAC=9468,3488	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:78:1|1:8358584_C_A:1165,78,0
chr1	8358590	rs1058766	T	C	1136.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.32;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1058766;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|RERE|RERE|transcript|NM_001042681.1|protein_coding|20/23|c.3945A>G|p.Arg1315Arg|4570/8009|3945/4701|1315/1566||,C|synonymous_variant|LOW|RERE|RERE|transcript|NM_001042682.1|protein_coding|10/13|c.2283A>G|p.Arg761Arg|2869/6308|2283/3039|761/1012||,C|synonymous_variant|LOW|RERE|RERE|transcript|NM_012102.3|protein_coding|21/24|c.3945A>G|p.Arg1315Arg|4755/8194|3945/4701|1315/1566||;p3_1000G_AA=C|||;p3_1000G_AC=4007;p3_1000G_AF=0.80012;p3_1000G_AFR_AF=0.8691;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=12471;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.671;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8418650;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3678,692;ESP6500_AA_GTC=1552,574,59;ESP6500_CDS_SIZES=NM_012102.3:4701,NM_001042682.1:3039,NM_001042681.1:4701;ESP6500_CG=-1.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=22;ESP6500_EA_AC=5827,2755;ESP6500_EA_GTC=1986,1855,450;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012102.3:coding-synonymous,NM_001042682.1:coding-synonymous,NM_001042681.1:coding-synonymous;ESP6500_GL=RERE;ESP6500_GRCh38_POSITION=1:8358590;ESP6500_GTC=3538,2429,509;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012102.3:c.3945A>G,NM_001042682.1:c.2283A>G,NM_001042681.1:c.3945A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012102.3:p.(R1315),NM_001042682.1:p.(R761),NM_001042681.1:p.(R1315);ESP6500_MAF=32.1021,15.8352,26.6137;ESP6500_TAC=9505,3447	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:8358584_C_A:1165,78,0
chr1	8359569	rs7525559	T	C	387.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.62;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7525559;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|RERE|RERE|transcript|NM_001042681.1|protein_coding|19/22|c.3618+195A>G||||||,C|intron_variant|MODIFIER|RERE|RERE|transcript|NM_001042682.1|protein_coding|9/12|c.1956+195A>G||||||,C|intron_variant|MODIFIER|RERE|RERE|transcript|NM_012102.3|protein_coding|20/23|c.3618+195A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2392;p3_1000G_AF=0.477636;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=19130;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.4632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8419629;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:416,30,0
chr1	8361032	rs2784735	C	T	496.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.22;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2784735;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|RERE|RERE|transcript|NM_001042681.1|protein_coding|18/23|c.2475G>A|p.Pro825Pro|3100/8009|2475/4701|825/1566||,T|synonymous_variant|LOW|RERE|RERE|transcript|NM_001042682.1|protein_coding|8/13|c.813G>A|p.Pro271Pro|1399/6308|813/3039|271/1012||,T|synonymous_variant|LOW|RERE|RERE|transcript|NM_012102.3|protein_coding|19/24|c.2475G>A|p.Pro825Pro|3285/8194|2475/4701|825/1566||;p3_1000G_AA=c|||;p3_1000G_AC=2293;p3_1000G_AF=0.457867;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=12102;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8421092;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=709,2809;ESP6500_AA_GTC=128,453,1178;ESP6500_CDS_SIZES=NM_012102.3:4701,NM_001042682.1:3039,NM_001042681.1:4701;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=3;ESP6500_EA_AC=2774,4342;ESP6500_EA_GTC=656,1462,1440;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012102.3:coding-synonymous,NM_001042682.1:coding-synonymous,NM_001042681.1:coding-synonymous;ESP6500_GL=RERE;ESP6500_GRCh38_POSITION=1:8361032;ESP6500_GTC=784,1915,2618;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012102.3:c.2475G>A,NM_001042682.1:c.813G>A,NM_001042681.1:c.2475G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012102.3:p.(P825),NM_001042682.1:p.(P271),NM_001042681.1:p.(P825);ESP6500_MAF=38.9826,20.1535,32.7534;ESP6500_TAC=3483,7151	GT:AD:DP:GQ:PL	1/1:0,17:17:51:525,51,0
chr1	8361143	rs13596	T	C	988.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.7;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13596;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|RERE|RERE|transcript|NM_001042681.1|protein_coding|18/23|c.2364A>G|p.Pro788Pro|2989/8009|2364/4701|788/1566||,C|synonymous_variant|LOW|RERE|RERE|transcript|NM_001042682.1|protein_coding|8/13|c.702A>G|p.Pro234Pro|1288/6308|702/3039|234/1012||,C|synonymous_variant|LOW|RERE|RERE|transcript|NM_012102.3|protein_coding|19/24|c.2364A>G|p.Pro788Pro|3174/8194|2364/4701|788/1566||;p3_1000G_AA=t|||;p3_1000G_AC=4006;p3_1000G_AF=0.79992;p3_1000G_AFR_AF=0.8411;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=12992;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.6819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8421203;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3390,752;ESP6500_AA_GTC=1409,572,90;ESP6500_CDS_SIZES=NM_012102.3:4701,NM_001042682.1:3039,NM_001042681.1:4701;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=7;ESP6500_EA_AC=5605,2589;ESP6500_EA_GTC=1942,1721,434;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012102.3:coding-synonymous,NM_001042682.1:coding-synonymous,NM_001042681.1:coding-synonymous;ESP6500_GL=RERE;ESP6500_GRCh38_POSITION=1:8361143;ESP6500_GTC=3351,2293,524;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012102.3:c.2364A>G,NM_001042682.1:c.702A>G,NM_001042681.1:c.2364A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012102.3:p.(P788),NM_001042682.1:p.(P234),NM_001042681.1:p.(P788);ESP6500_MAF=31.5963,18.1555,27.0833;ESP6500_TAC=8995,3341	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:8361123_A_C:1017,81,0
chr1	8362616	rs2252865	T	C	561.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2252865;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RERE|RERE|transcript|NM_001042681.1|protein_coding|16/22|c.1902+67A>G||||||,C|intron_variant|MODIFIER|RERE|RERE|transcript|NM_001042682.1|protein_coding|6/12|c.240+67A>G||||||,C|intron_variant|MODIFIER|RERE|RERE|transcript|NM_012102.3|protein_coding|17/23|c.1902+67A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3997;p3_1000G_AF=0.798123;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=19574;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.6819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8422676;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:590,57,0
chr1	8364924	rs34269918;rs398089117	GA	G	38.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.35;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34269918;dbSNPBuildID=126,138;ANN=G|intron_variant|MODIFIER|RERE|RERE|transcript|NM_001042681.1|protein_coding|13/22|c.1448-87delT||||||,G|intron_variant|MODIFIER|RERE|RERE|transcript|NM_001042682.1|protein_coding|3/12|c.-215-87delT||||||,G|intron_variant|MODIFIER|RERE|RERE|transcript|NM_012102.3|protein_coding|14/23|c.1448-87delT||||||;p3_1000G_AA=A|AA|A|insertion;p3_1000G_AC=3866;p3_1000G_AF=0.771965;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=7968;p3_1000G_EAS_AF=0.9177;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8424984;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7474;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0
chr1	8466082	rs4908760	G	A	279.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4908760;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|RERE|RERE|transcript|NM_001042681.1|protein_coding|10/22|c.1105-59C>T||||||,A|intron_variant|MODIFIER|RERE|RERE|transcript|NM_012102.3|protein_coding|11/23|c.1105-59C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=3459;p3_1000G_AF=0.690695;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=21115;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8526142;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:308,30,0
chr1	8864184	rs28999092	C	T	1033.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.628;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.23;SOR=0.832;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28999092;dbSNPBuildID=125;ANN=T|sequence_feature|LOW|ENO1|ENO1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001428.3|protein_coding|8/11|c.866-92G>A||||||,T|downstream_gene_variant|MODIFIER|MIR6728|MIR6728|transcript|NR_106786.1|pseudogene||n.*2318G>A|||||2318|,T|intron_variant|MODIFIER|ENO1|ENO1|transcript|NM_001428.3|protein_coding|8/11|c.866-92G>A||||||,T|intron_variant|MODIFIER|ENO1|ENO1|transcript|NM_001201483.1|protein_coding|5/8|c.587-92G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=428;p3_1000G_AF=0.0854633;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=20135;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8924243;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1062,0,677
chr1	8864223	rs1543711	A	G	1817.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=3.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1543711;dbSNPBuildID=88;ANN=G|sequence_feature|LOW|ENO1|ENO1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001428.3|protein_coding|8/11|c.866-131T>C||||||,G|downstream_gene_variant|MODIFIER|MIR6728|MIR6728|transcript|NR_106786.1|pseudogene||n.*2279T>C|||||2279|,G|intron_variant|MODIFIER|ENO1|ENO1|transcript|NM_001428.3|protein_coding|8/11|c.866-131T>C||||||,G|intron_variant|MODIFIER|ENO1|ENO1|transcript|NM_001201483.1|protein_coding|5/8|c.587-131T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3795;p3_1000G_AF=0.757788;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=19552;p3_1000G_EAS_AF=0.9167;p3_1000G_EUR_AF=0.8111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8924282;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1846,156,0
chr1	8868066	rs2071412	G	T	1456.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2071412;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|MIR6728|MIR6728|transcript|NR_106786.1|pseudogene||n.-1476C>A|||||1476|,T|intron_variant|MODIFIER|ENO1|ENO1|transcript|NM_001428.3|protein_coding|4/11|c.241-9C>A||||||,T|intron_variant|MODIFIER|ENO1|ENO1|transcript|NM_001201483.1|protein_coding|1/8|c.-39-9C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1720;p3_1000G_AF=0.34345;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=19174;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.2445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8928125;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=718,3688;ESP6500_AA_AGE=298.4+/-285.3;ESP6500_AA_GTC=54,610,1539;ESP6500_CDS_SIZES=NM_001428.3:1305,NM_001201483.1:1026;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=271;ESP6500_EA_AC=2244,6356;ESP6500_EA_AGE=380.9+/-339.8;ESP6500_EA_GTC=283,1678,2339;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001428.3:intron,NM_001201483.1:intron;ESP6500_GL=ENO1;ESP6500_GRCh38_POSITION=1:8868066;ESP6500_GTC=337,2288,3878;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001428.3:c.241-9C>A,NM_001201483.1:c.-48C>A;ESP6500_MAF=26.093,16.296,22.7741;ESP6500_TAC=2962,10044	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1485,149,0
chr1	8870326	rs2765511	G	A	79.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2765511;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|MIR6728|MIR6728|transcript|NR_106786.1|pseudogene||n.-3736C>T|||||3736|,A|intron_variant|MODIFIER|ENO1|ENO1|transcript|NM_001428.3|protein_coding|4/11|c.240+126C>T||||||,A|intron_variant|MODIFIER|ENO1|ENO1|transcript|NM_001201483.1|protein_coding|1/8|c.-40+126C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3915;p3_1000G_AF=0.781749;p3_1000G_AFR_AF=0.6967;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=17945;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.8111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8930385;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:107,9,0
chr1	8951527	rs3765968	T	G	1533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.5;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3765968;dbSNPBuildID=107;ANN=G|sequence_feature|LOW|CA6|CA6|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001270500.1|protein_coding|2/7|c.259+2085T>G||||||,G|sequence_feature|LOW|CA6|CA6|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001215.3|protein_coding|2/7|c.259+2085T>G||||||,G|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270500.1|protein_coding|2/7|c.259+2085T>G||||||,G|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001215.3|protein_coding|2/7|c.259+2085T>G||||||,G|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270501.1|protein_coding|1/6|c.79+5562T>G||||||,G|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270502.1|protein_coding|1/5|c.24+5562T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3257;p3_1000G_AF=0.650359;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=15249;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.6352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9011586;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1250,502;ESP6500_AA_GTC=453,344,79;ESP6500_CDS_SIZES=NM_001270502.1:543,NM_001270501.1:747,NM_001270500.1:942,NM_001215.3:927;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=41;ESP6500_EA_AC=2531,1451;ESP6500_EA_GTC=815,901,275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001270502.1:intron,NM_001270501.1:intron,NM_001270500.1:intron,NM_001215.3:intron;ESP6500_GL=CA6;ESP6500_GRCh38_POSITION=1:8951527;ESP6500_GTC=1268,1245,354;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001270502.1:c.24+5562T>G,NM_001270501.1:c.79+5562T>G,NM_001270500.1:c.259+2085T>G,NM_001215.3:c.259+2085T>G;ESP6500_MAF=36.439,28.653,34.06;ESP6500_TAC=3781,1953	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1562,156,0
chr1	8951663	rs3765966	G	T	1027.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.23;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3765966;dbSNPBuildID=107;ANN=T|sequence_feature|LOW|CA6|CA6|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001270500.1|protein_coding|2/7|c.259+2221G>T||||||,T|sequence_feature|LOW|CA6|CA6|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001215.3|protein_coding|2/7|c.259+2221G>T||||||,T|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270500.1|protein_coding|2/7|c.259+2221G>T||||||,T|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001215.3|protein_coding|2/7|c.259+2221G>T||||||,T|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270501.1|protein_coding|1/6|c.80-5474G>T||||||,T|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270502.1|protein_coding|1/5|c.24+5698G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3622;p3_1000G_AF=0.723243;p3_1000G_AFR_AF=0.8253;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=13336;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.6581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9011722;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1407,345;ESP6500_AA_GTC=560,287,29;ESP6500_CDS_SIZES=NM_001270502.1:543,NM_001270501.1:747,NM_001270500.1:942,NM_001215.3:927;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=42;ESP6500_EA_AC=2630,1352;ESP6500_EA_GTC=879,872,240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001270502.1:intron,NM_001270501.1:intron,NM_001270500.1:intron,NM_001215.3:intron;ESP6500_GL=CA6;ESP6500_GRCh38_POSITION=1:8951663;ESP6500_GTC=1439,1159,269;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001270502.1:c.24+5698G>T,NM_001270501.1:c.80-5474G>T,NM_001270500.1:c.259+2221G>T,NM_001215.3:c.259+2221G>T;ESP6500_MAF=33.9528,19.6918,29.5954;ESP6500_TAC=4037,1697	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1056,102,0
chr1	8957032	rs2274332	C	T	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.98;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=-1.436;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274332;dbSNPBuildID=100;ANN=T|sequence_feature|LOW|CA6|CA6|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001270500.1|protein_coding|2/7|c.260-105C>T||||||,T|sequence_feature|LOW|CA6|CA6|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001215.3|protein_coding|2/7|c.260-105C>T||||||,T|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270500.1|protein_coding|2/7|c.260-105C>T||||||,T|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001215.3|protein_coding|2/7|c.260-105C>T||||||,T|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270501.1|protein_coding|1/6|c.80-105C>T||||||,T|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270502.1|protein_coding|1/5|c.25-1878C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=811;p3_1000G_AF=0.161941;p3_1000G_AFR_AF=0.1392;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=17699;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9017091;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:153,0,325
chr1	8974362	rs3765964	G	A	874.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.868;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=8.818;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.06;SOR=0.658;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765964;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|CA6|CA6|transcript|NM_001270500.1|protein_coding|8/8|c.860G>A|p.Gly287Glu|913/995|860/942|287/313||,A|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001215.3|protein_coding|7/7|c.845-260G>A||||||,A|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270501.1|protein_coding|6/6|c.665-260G>A||||||,A|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270502.1|protein_coding|5/5|c.461-260G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2304;p3_1000G_AF=0.460064;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=17753;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.3887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9034421;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=577,1167;ESP6500_AA_GTC=106,365,401;ESP6500_CDS_SIZES=NM_001270502.1:543,NM_001270501.1:747,NM_001270500.1:942,NM_001215.3:927;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=9;ESP6500_EA_AC=1411,2551;ESP6500_EA_GTC=276,859,846;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001270502.1:intron,NM_001270501.1:intron,NM_001270500.1:missense,NM_001215.3:intron;ESP6500_GL=CA6;ESP6500_GRCh38_POSITION=1:8974362;ESP6500_GS=.,.,98,.;ESP6500_GTC=382,1224,1247;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001270502.1:c.461-260G>A,NM_001270501.1:c.665-260G>A,NM_001270500.1:c.860G>A,NM_001215.3:c.845-260G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_001270500.1:p.(G287E),.;ESP6500_MAF=35.6133,33.0849,34.8405;ESP6500_TAC=1988,3718	GT:AD:DP:GQ:PL	0/1:31,32:63:99:903,0,872
chr1	8974539	rs3765963	A	G	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=4.947;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.056;SOR=0.91;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765963;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|CA6|CA6|transcript|NM_001270500.1|protein_coding||c.*95A>G|||||95|,G|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001215.3|protein_coding|7/7|c.845-83A>G||||||,G|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270501.1|protein_coding|6/6|c.665-83A>G||||||,G|intron_variant|MODIFIER|CA6|CA6|transcript|NM_001270502.1|protein_coding|5/5|c.461-83A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2896;p3_1000G_AF=0.578275;p3_1000G_AFR_AF=0.6445;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=19418;p3_1000G_EAS_AF=0.7798;p3_1000G_EUR_AF=0.4076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9034598;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,15:38:99:412,0,611
chr1	8974756	rs35753212;rs70985563	C	CAGA	232.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.135;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.337;SOR=0.141;INS;HET;VARTYPE=INS;dbSNP138_ID=rs70985563,rs35753212;dbSNPBuildID=126,130;ANN=CAGA|3_prime_UTR_variant|MODIFIER|CA6|CA6|transcript|NM_001215.3|protein_coding|8/8|c.*55_*57dupAAG|||||58|INFO_REALIGN_3_PRIME,CAGA|3_prime_UTR_variant|MODIFIER|CA6|CA6|transcript|NM_001270501.1|protein_coding|7/7|c.*55_*57dupAAG|||||58|INFO_REALIGN_3_PRIME,CAGA|3_prime_UTR_variant|MODIFIER|CA6|CA6|transcript|NM_001270502.1|protein_coding|6/6|c.*55_*57dupAAG|||||58|INFO_REALIGN_3_PRIME,CAGA|downstream_gene_variant|MODIFIER|CA6|CA6|transcript|NM_001270500.1|protein_coding||c.*312_*313insAGA|||||313|;p3_1000G_AC=3746;p3_1000G_AF=0.748003;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=17359;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.506;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9034815;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=INDEL;ESP6500_AA_AC=3707,533;ESP6500_AA_GTC=1641,425,54;ESP6500_CDS_SIZES=NM_001270502.1:543,NM_001270501.1:747,NM_001215.3:927;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=35;ESP6500_EA_AC=4037,4185;ESP6500_EA_GTC=1018,2001,1092;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001270502.1:utr-3,NM_001270501.1:utr-3,NM_001215.3:utr-3;ESP6500_GL=CA6;ESP6500_GRCh38_POSITION=1:8974756;ESP6500_GTC=2659,2426,1146;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001270502.1:c.*52_*53insAGA,NM_001270501.1:c.*52_*53insAGA,NM_001215.3:c.*52_*53insAGA;ESP6500_MAF=49.1,12.5708,37.8591;ESP6500_TAC=7744,4718	GT:AD:DP:GQ:PL	0/1:8,7:15:99:270,0,377
chr1	9010119	rs67090552	A	G	715.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.795;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=9.164;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.39;SOR=0.499;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67090552;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|9/11|c.1116+24T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=907;p3_1000G_AF=0.18111;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=15354;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.0547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9070178;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=788,3312;ESP6500_AA_GTC=69,650,1331;ESP6500_CDS_SIZES=NM_207420.2:1539;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=11;ESP6500_EA_AC=414,7632;ESP6500_EA_GTC=13,388,3622;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207420.2:intron;ESP6500_GL=SLC2A7;ESP6500_GRCh38_POSITION=1:9010119;ESP6500_GTC=82,1038,4953;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207420.2:c.1116+24T>C;ESP6500_MAF=5.1454,19.2195,9.8963;ESP6500_TAC=1202,10944	GT:AD:DP:GQ:PL	0/1:14,31:45:99:744,0,343
chr1	9010426	rs2012842	T	A	54.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.992;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=0.431;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2012842;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|8/11|c.1015-182A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=2254;p3_1000G_AF=0.45008;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=20430;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.3608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9070485;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:83:83,0,150
chr1	9013742	rs7537425	C	T	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.528;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=0.436;SOR=0.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7537425;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|7/11|c.904-107G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2125;p3_1000G_AF=0.424321;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=18356;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.3608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9073801;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,15:27:99:474,0,393
chr1	9014873	rs1556757	G	A	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.894;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-1.513;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1556757;dbSNPBuildID=88;ANN=A|splice_region_variant&intron_variant|LOW|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|6/11|c.716-5C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2236;p3_1000G_AF=0.446486;p3_1000G_AFR_AF=0.4826;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=15052;p3_1000G_EAS_AF=0.5437;p3_1000G_EUR_AF=0.3579;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9074932;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2150,2240;ESP6500_AA_GTC=552,1046,597;ESP6500_CDS_SIZES=NM_207420.2:1539;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=12;ESP6500_EA_AC=3055,5531;ESP6500_EA_GTC=577,1901,1815;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207420.2:intron;ESP6500_GL=SLC2A7;ESP6500_GRCh38_POSITION=1:9014873;ESP6500_GTC=1129,2947,2412;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207420.2:c.716-5C>T;ESP6500_MAF=35.5812,48.9749,40.1125;ESP6500_TAC=5205,7771	GT:AD:DP:GQ:PL	0/1:19,13:32:99:300,0,507
chr1	9019095	rs12031065	C	T	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.97;ReadPosRankSum=-0.282;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12031065;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|4/11|c.436+114G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1988;p3_1000G_AF=0.396965;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=18529;p3_1000G_EAS_AF=0.4087;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9079154;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:56:235,0,56
chr1	9019306	rs10864379	G	A	461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.115;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.13;SOR=1.018;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864379;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|4/12|c.339C>T|p.Ile113Ile|339/1539|339/1539|113/512||;p3_1000G_AA=G|||;p3_1000G_AC=424;p3_1000G_AF=0.0846645;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=17305;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9079365;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=374,4032;ESP6500_AA_AGE=189.2+/-215.4;ESP6500_AA_GTC=16,342,1845;ESP6500_CDS_SIZES=NM_207420.2:1539;ESP6500_CG=3.6;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=67;ESP6500_EA_AC=38,8562;ESP6500_EA_AGE=25.7+/-73.6;ESP6500_EA_GTC=0,38,4262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207420.2:coding-synonymous;ESP6500_GL=SLC2A7;ESP6500_GRCh38_POSITION=1:9019306;ESP6500_GTC=16,380,6107;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207420.2:c.339C>T;ESP6500_HGVS_PROTEIN_VAR=NM_207420.2:p.(I113);ESP6500_MAF=0.4419,8.4884,3.1678;ESP6500_TAC=412,12594	GT:AD:DP:GQ:PL	0/1:18,19:37:99:490,0,443
chr1	9024865	rs2027222	T	C	555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=-1.203;SOR=0.435;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2027222;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|2/11|c.150+111A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4092;p3_1000G_AF=0.817093;p3_1000G_AFR_AF=0.7859;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=17595;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9084924;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,19:33:99:584,0,391
chr1	9024947	rs148146441;rs760691497	G	GGCCCACCTTGT	1468.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.467;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=2.145;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=0.695;SOR=0.404;INS;HET;VARTYPE=INS;dbSNP138_ID=rs148146441,rs60746313;dbSNPBuildID=134,144;ANN=GGCCCACCTTGT|intron_variant|MODIFIER|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|2/11|c.150+18_150+28dupACAAGGTGGGC||||||;p3_1000G_AC=1057;p3_1000G_AF=0.211062;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=17507;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9085006;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:27,36:63:99:1506,0,1062
chr1	9025220	rs12072306	C	T	274.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.647;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.363;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12072306;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC2A7|SLC2A7|transcript|NM_207420.2|protein_coding|1/11|c.52-146G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=850;p3_1000G_AF=0.169728;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=16534;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9085279;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,11:14:57:303,0,57
chr1	9058188	rs77511432	A	C	660.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.268;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=3.667;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.245;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77511432;dbSNPBuildID=131;ANN=C|stop_gained|HIGH|SLC2A5|SLC2A5|transcript|NM_001328619.1|protein_coding|3/13|c.96T>G|p.Tyr32*|333/2383|96/1506|32/501||,C|stop_gained|HIGH|SLC2A5|SLC2A5|transcript|NM_003039.2|protein_coding|2/12|c.96T>G|p.Tyr32*|388/2438|96/1506|32/501||,C|stop_gained|HIGH|SLC2A5|SLC2A5|transcript|NM_001135585.1|protein_coding|2/5|c.96T>G|p.Tyr32*|388/1280|96/735|32/244||,C|start_lost|HIGH|SLC2A5|SLC2A5|transcript|NM_001328620.1|protein_coding|2/12|c.2T>G|p.Met1?|388/2400|2/1374|1/457||,C|sequence_feature|LOW|SLC2A5|SLC2A5|binding-site:Fructose|NM_003039.2|protein_coding|2/12|c.96T>G||||||,C|sequence_feature|LOW|SLC2A5|SLC2A5|binding-site:Fructose|NM_001135585.1|protein_coding|2/5|c.96T>G||||||,C|intron_variant|MODIFIER|SLC2A5|SLC2A5|transcript|NM_001328621.1|protein_coding|1/8|c.-24+11316T>G||||||;LOF=(SLC2A5|SLC2A5|5|0.80);NMD=(SLC2A5|SLC2A5|5|0.60);p3_1000G_AA=A|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=18463;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9118247;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,28:58:99:1|0:9058179_G_A:689,0,774
chr1	9128817	rs61785839	T	C	419.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.593;SOR=0.703;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61785839;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|GPR157|GPR157|transcript|NM_024980.4|protein_coding|1/4|c.211A>G|p.Asn71Asp|354/1153|211/1008|71/335||;p3_1000G_AA=c|||;p3_1000G_AC=486;p3_1000G_AF=0.0970447;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=11521;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9188876;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=354,4040;ESP6500_AA_GTC=14,326,1857;ESP6500_CDS_SIZES=NM_024980.4:1008;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=18;ESP6500_EA_AC=21,8571;ESP6500_EA_GTC=0,21,4275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024980.4:missense;ESP6500_GL=GPR157;ESP6500_GRCh38_POSITION=1:9128817;ESP6500_GS=23;ESP6500_GTC=14,347,6132;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024980.4:c.211A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024980.4:p.(N71D);ESP6500_MAF=0.2444,8.0564,2.8877;ESP6500_PH=benign:0.001;ESP6500_TAC=375,12611	GT:AD:DP:GQ:PL	0/1:21,16:37:99:448,0,540
chr1	9128908	rs77649572	G	C	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.192;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.621;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77649572;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|GPR157|GPR157|transcript|NM_024980.4|protein_coding|1/4|c.120C>G|p.Pro40Pro|263/1153|120/1008|40/335||;p3_1000G_AA=g|||;p3_1000G_AC=385;p3_1000G_AF=0.076877;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=8444;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9188967;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=37,3867;ESP6500_AA_GTC=0,37,1915;ESP6500_CDS_SIZES=NM_024980.4:1008;ESP6500_CG=-8.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=4;ESP6500_EA_AC=11,7709;ESP6500_EA_GTC=0,11,3849;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024980.4:coding-synonymous;ESP6500_GL=GPR157;ESP6500_GRCh38_POSITION=1:9128908;ESP6500_GTC=0,48,5764;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_024980.4:c.120C>G;ESP6500_HGVS_PROTEIN_VAR=NM_024980.4:p.(P40);ESP6500_MAF=0.1425,0.9477,0.4129;ESP6500_TAC=48,11576	GT:AD:DP:GQ:PL	0/1:8,10:18:99:264,0,240
chr1	9244919	rs1060499862;rs139855605;402919	CCCCAGGCA	C	547.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.906;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=1.11;SOR=0.998;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs139855605;dbSNPBuildID=134,150;ANN=C|frameshift_variant|HIGH|H6PD|H6PD|transcript|NM_001282587.1|protein_coding|2/5|c.27_34delCCCAGGCA|p.Pro10fs|179/9027|27/2409|9/802||INFO_REALIGN_3_PRIME,C|frameshift_variant&start_lost|HIGH|H6PD|H6PD|transcript|NM_004285.3|protein_coding|2/5|c.-7_1delCCCAGGCA|p.Met1fs|267/9115|1/2376|1/791||INFO_REALIGN_3_PRIME,C|5_prime_UTR_variant|MODIFIER|H6PD|H6PD|transcript|NM_004285.3|protein_coding|2/5|c.-7_1delCCCAGGCA|||||0|INFO_REALIGN_3_PRIME;LOF=(H6PD|H6PD|2|0.50);p3_1000G_AC=542;p3_1000G_AF=0.108227;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=22511;p3_1000G_EAS_AF=0.0724;p3_1000G_EUR_AF=0.1471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9304978;p3_1000G_GRCH37_REF=CCCCAGGCA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=INDEL;ESP6500_AA_AC=126,4140;ESP6500_AA_GTC=1,124,2008;ESP6500_CDS_SIZES=NM_004285.3:2376;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=67;ESP6500_EA_AC=1102,7150;ESP6500_EA_GTC=77,948,3101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004285.3:splice-3;ESP6500_GL=H6PD;ESP6500_GRCh38_POSITION=1:9244919;ESP6500_GTC=78,1072,5109;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004285.3:c.-15_-8del8;ESP6500_MAF=13.3543,2.9536,9.8099;ESP6500_TAC=1228,11290;CLINVAR_ALLELEID=389428;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.9244928_9244935delCCCAGGCA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=H6PD:9563;CLINVAR_MC=SO:0001589|frameshift_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1060499862	GT:AD:DP:GQ:PL	0/1:15,15:30:99:585,0,1330
chr1	9264512	rs9434742	T	C	2011.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=133;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.883;SOR=0.697;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9434742;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|H6PD|H6PD|transcript|NM_001282587.1|protein_coding|5/5|c.2052T>C|p.Tyr684Tyr|2204/9027|2052/2409|684/802||,C|synonymous_variant|LOW|H6PD|H6PD|transcript|NM_004285.3|protein_coding|5/5|c.2019T>C|p.Tyr673Tyr|2292/9115|2019/2376|673/791||;p3_1000G_AA=C|||;p3_1000G_AC=2018;p3_1000G_AF=0.402955;p3_1000G_AFR_AF=0.497;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=18852;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9324571;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2150,2256;ESP6500_AA_AGE=582.9+/-385.7;ESP6500_AA_GTC=526,1098,579;ESP6500_CDS_SIZES=NM_004285.3:2376;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=55;ESP6500_EA_AC=3408,5188;ESP6500_EA_AGE=627.4+/-398.0;ESP6500_EA_GTC=653,2102,1543;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004285.3:coding-synonymous;ESP6500_GL=H6PD;ESP6500_GRCh38_POSITION=1:9264512;ESP6500_GTC=1179,3200,2122;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004285.3:c.2019T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004285.3:p.(Y673);ESP6500_MAF=39.6463,48.7971,42.7473;ESP6500_TAC=5558,7444	GT:AD:DP:GQ:PL	0/1:60,73:133:99:2040,0,1526
chr1	9582366	rs61741102	G	C	560.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.375;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.287;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-1.025;SOR=0.389;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61741102;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|SLC25A33|SLC25A33|transcript|NM_032315.2|protein_coding|7/7|c.831G>C|p.Leu277Leu|1054/1461|831/966|277/321||;p3_1000G_AA=G|||;p3_1000G_AC=95;p3_1000G_AF=0.0189696;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=17420;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.0398;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9642424;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=25,4381;ESP6500_AA_AGE=31.7+/-61.6;ESP6500_AA_GTC=0,25,2178;ESP6500_CDS_SIZES=NM_032315.2:966;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=77;ESP6500_EA_AC=312,8288;ESP6500_EA_AGE=112.0+/-172.2;ESP6500_EA_GTC=6,300,3994;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032315.2:coding-synonymous;ESP6500_GL=SLC25A33;ESP6500_GRCh38_POSITION=1:9582366;ESP6500_GTC=6,325,6172;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_032315.2:c.831G>C;ESP6500_HGVS_PROTEIN_VAR=NM_032315.2:p.(L277);ESP6500_MAF=3.6279,0.5674,2.5911;ESP6500_TAC=337,12669	GT:AD:DP:GQ:PL	0/1:16,23:39:99:589,0,424
chr1	9598407	rs9430181	T	G	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.424;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.587;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.348;SOR=0.374;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9430181;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|TMEM201|TMEM201|transcript|NM_001130924.2|protein_coding|3/10|c.430-42T>G||||||,G|intron_variant|MODIFIER|TMEM201|TMEM201|transcript|NM_001010866.3|protein_coding|3/5|c.430-42T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3875;p3_1000G_AF=0.773762;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=13859;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.8141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9658465;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3231,1175;ESP6500_AA_AGE=409.3+/-334.9;ESP6500_AA_GTC=1187,857,159;ESP6500_CDS_SIZES=NM_001130924.2:2001,NM_001010866.3:1179;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=48;ESP6500_EA_AC=7055,1545;ESP6500_EA_AGE=287.7+/-298.4;ESP6500_EA_GTC=2889,1277,134;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130924.2:intron,NM_001010866.3:intron;ESP6500_GL=TMEM201;ESP6500_GRCh38_POSITION=1:9598407;ESP6500_GTC=4076,2134,293;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001130924.2:c.430-42T>G,NM_001010866.3:c.430-42T>G;ESP6500_MAF=17.9651,26.6682,20.9134;ESP6500_TAC=10286,2720	GT:AD:DP:GQ:PL	0/1:25,24:49:99:581,0,586
chr1	9598649	rs9430182	G	A	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.412;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.22;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9430182;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|TMEM201|TMEM201|transcript|NM_001130924.2|protein_coding|4/10|c.606+24G>A||||||,A|intron_variant|MODIFIER|TMEM201|TMEM201|transcript|NM_001010866.3|protein_coding|4/5|c.606+24G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3738;p3_1000G_AF=0.746406;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=13783;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.8121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9658707;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3165,1231;ESP6500_AA_GTC=1157,851,190;ESP6500_CDS_SIZES=NM_001130924.2:2001,NM_001010866.3:1179;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=17;ESP6500_EA_AC=7066,1510;ESP6500_EA_GTC=2921,1224,143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001130924.2:intron,NM_001010866.3:intron;ESP6500_GL=TMEM201;ESP6500_GRCh38_POSITION=1:9598649;ESP6500_GTC=4078,2075,333;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001130924.2:c.606+24G>A,NM_001010866.3:c.606+24G>A;ESP6500_MAF=17.6073,28.0027,21.1301;ESP6500_TAC=10231,2741	GT:AD:DP:GQ:PL	0/1:7,10:17:99:314,0,229
chr1	9601003	rs9430184	A	G	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.92;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=-0.499;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9430184;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|TMEM201|TMEM201|transcript|NM_001130924.2|protein_coding|4/10|c.607-102A>G||||||,G|intron_variant|MODIFIER|TMEM201|TMEM201|transcript|NM_001010866.3|protein_coding|4/5|c.607-102A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3852;p3_1000G_AF=0.769169;p3_1000G_AFR_AF=0.6891;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=15535;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.8141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9661061;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:406,0,265
chr1	9610425	rs4244632	T	A	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=1.49;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4244632;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TMEM201|TMEM201|transcript|NM_001130924.2|protein_coding|8/10|c.1466-81T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3979;p3_1000G_AF=0.794529;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.8991;p3_1000G_AN=5008;p3_1000G_DP=18658;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.8072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9670483;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:200,0,331
chr1	9610776	rs4926472	C	T	150.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.287;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.705;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4926472;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|TMEM201|TMEM201|transcript|NM_001130924.2|protein_coding|9/11|c.1736C>T|p.Pro579Leu|1793/3852|1736/2001|579/666||;p3_1000G_AA=C|||;p3_1000G_AC=3361;p3_1000G_AF=0.671126;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=14631;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.8022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9670834;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=773,611;ESP6500_AA_GTC=235,303,154;ESP6500_CDS_SIZES=NM_001130924.2:2001;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=26;ESP6500_EA_AC=2564,618;ESP6500_EA_GTC=1033,498,60;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001130924.2:missense;ESP6500_GL=TMEM201;ESP6500_GRCh38_POSITION=1:9610776;ESP6500_GS=98;ESP6500_GTC=1268,801,214;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001130924.2:c.1736C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001130924.2:p.(P579L);ESP6500_MAF=19.4217,44.1474,26.9163;ESP6500_PH=benign:0.007;ESP6500_TAC=3337,1229	GT:AD:DP:GQ:PL	0/1:8,7:15:99:179,0,199
chr1	9611199	rs397979148;rs559162015;rs70979767	CT	C	24.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.586;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=-0.076;SOR=0.412;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs70979767;dbSNPBuildID=134,142,138;ANN=C|intron_variant|MODIFIER|TMEM201|TMEM201|transcript|NM_001130924.2|protein_coding|9/10|c.1765+409delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3938;p3_1000G_AF=0.786342;p3_1000G_AFR_AF=0.8472;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=18233;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9671257;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,5:12:62:62,0,123
chr1	9710632	rs112806445;rs112956706;rs34885574;rs757677764	C	CAG	222.92	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.29;ReadPosRankSum=0.674;SOR=1.022;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34885574,rs112806445;dbSNPBuildID=126,144,132,132;ANN=CAG|intron_variant|MODIFIER|PIK3CD|PIK3CD|transcript|NM_005026.3|protein_coding|3/23|c.141+58_141+59dupGA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,9:10:5:259,0,5
chr1	9716281	rs3934934	A	G	567.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.16;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=2.032;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.28;ReadPosRankSum=-0.067;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3934934;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|PIK3CD|PIK3CD|transcript|NM_005026.3|protein_coding|5/23|c.601-159A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1761;p3_1000G_AF=0.351637;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=19145;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.1083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9776339;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,18:28:99:596,0,198
chr1	9719813	rs9430220	T	C	516.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9430220;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|PIK3CD|PIK3CD|transcript|NM_005026.3|protein_coding|9/23|c.1243-108T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2370;p3_1000G_AF=0.473243;p3_1000G_AFR_AF=0.7905;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=14589;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9779871;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:545,42,0
chr1	9721384	rs75885847	G	A	534.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.497;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.81;ReadPosRankSum=1.22;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75885847;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|PIK3CD|PIK3CD|transcript|NM_005026.3|protein_coding|14/23|c.1812-60G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=54;p3_1000G_AF=0.0107827;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15371;p3_1000G_EAS_AF=0.0536;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9781442;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,17:27:99:563,0,299
chr1	9721585	rs140468930;474025	C	T	502.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.901;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=3.866;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.054;SOR=0.324;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140468930;dbSNPBuildID=134;ANN=T|splice_region_variant&synonymous_variant|LOW|PIK3CD|PIK3CD|transcript|NM_005026.3|protein_coding|15/24|c.1953C>T|p.Leu651Leu|2161/5411|1953/3135|651/1044||;p3_1000G_AA=C|||;p3_1000G_AC=145;p3_1000G_AF=0.0289537;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=18772;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9781643;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,4403;ESP6500_AA_AGE=6.2+/-15.9;ESP6500_AA_GTC=0,3,2200;ESP6500_CDS_SIZES=NM_005026.3:3135;ESP6500_CG=-3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=44;ESP6500_EA_AC=5,8595;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=0,5,4295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005026.3:coding-synonymous;ESP6500_GL=PIK3CD;ESP6500_GRCh38_POSITION=1:9721585;ESP6500_GTC=0,8,6495;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005026.3:c.1953C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005026.3:p.(L651);ESP6500_MAF=0.0581,0.0681,0.0615;ESP6500_TAC=8,12998;CLINVAR_ALLELEID=448270;CLINVAR_CLNDISDB=MedGen:C3714976,OMIM:615513,Orphanet:ORPHA397596;CLINVAR_CLNDN=Immunodeficiency_14;CLINVAR_CLNHGVS=NC_000001.11:g.9721585C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PIK3CD:5293;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=140468930	GT:AD:DP:GQ:PL	0/1:31,23:54:99:531,0,860
chr1	9722708	rs10864435	C	T	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.875;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=1.43;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864435;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PIK3CD|PIK3CD|transcript|NM_005026.3|protein_coding|19/23|c.2426+102C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1173;p3_1000G_AF=0.234225;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=19181;p3_1000G_EAS_AF=0.122;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9782766;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,9:14:99:257,0,118
chr1	9724365	rs11121484	C	T	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.429;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=5.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.031;SOR=1.08;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121484;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|PIK3CD|PIK3CD|transcript|NM_005026.3|protein_coding|22/24|c.2808C>T|p.Tyr936Tyr|3016/5411|2808/3135|936/1044||,T|sequence_feature|LOW|PIK3CD|PIK3CD|helix:combinatorial_evidence_used_in_manual_assertion|NM_005026.3|protein_coding|22/24|c.2808C>T||||||,T|downstream_gene_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding||c.*6143G>A|||||4656|,T|downstream_gene_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding||c.*6143G>A|||||4656|,T|downstream_gene_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding||c.*6143G>A|||||4656|;p3_1000G_AA=T|||;p3_1000G_AC=1532;p3_1000G_AF=0.305911;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=21084;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.0755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9784423;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2271,2135;ESP6500_AA_AGE=578.2+/-384.6;ESP6500_AA_GTC=588,1095,520;ESP6500_CDS_SIZES=NM_005026.3:3135;ESP6500_CG=-3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=113;ESP6500_EA_AC=727,7873;ESP6500_EA_AGE=786.7+/-407.6;ESP6500_EA_GTC=33,661,3606;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005026.3:coding-synonymous;ESP6500_GL=PIK3CD;ESP6500_GRCh38_POSITION=1:9724365;ESP6500_GTC=621,1756,4126;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005026.3:c.2808C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005026.3:p.(Y936);ESP6500_MAF=8.4535,48.4567,23.0509;ESP6500_TAC=2998,10008	GT:AD:DP:GQ:PL	0/1:31,28:59:99:654,0,928
chr1	9734924	rs11121485	C	T	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.319;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.223;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121485;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding|14/18|c.2110+24G>A||||||,T|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding|13/17|c.2053+24G>A||||||,T|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding|13/17|c.2080+24G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1164;p3_1000G_AF=0.232428;p3_1000G_AFR_AF=0.3964;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=16705;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9794982;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1466,2940;ESP6500_AA_AGE=467.4+/-354.8;ESP6500_AA_GTC=247,972,984;ESP6500_CDS_SIZES=NM_014944.3:2916,NM_001009566.1:2946;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=455,8145;ESP6500_EA_AGE=135.2+/-192.5;ESP6500_EA_GTC=17,421,3862;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014944.3:intron,NM_001009566.1:intron;ESP6500_GL=CLSTN1;ESP6500_GRCh38_POSITION=1:9734924;ESP6500_GTC=264,1393,4846;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014944.3:c.2080+24G>A,NM_001009566.1:c.2110+24G>A;ESP6500_MAF=5.2907,33.2728,14.7701;ESP6500_TAC=1921,11085	GT:AD:DP:GQ:PL	0/1:11,8:19:99:211,0,339
chr1	9735192	rs11121486	G	A	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.381;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.634;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.469;SOR=0.21;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121486;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding|13/18|c.1884-18C>T||||||,A|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding|12/17|c.1827-18C>T||||||,A|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding|12/17|c.1854-18C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1165;p3_1000G_AF=0.232628;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=16580;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9795250;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1451,2955;ESP6500_AA_AGE=419.1+/-338.5;ESP6500_AA_GTC=244,963,996;ESP6500_CDS_SIZES=NM_014944.3:2916,NM_001009566.1:2946;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=452,8148;ESP6500_EA_AGE=123.8+/-182.6;ESP6500_EA_GTC=17,418,3865;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014944.3:intron,NM_001009566.1:intron;ESP6500_GL=CLSTN1;ESP6500_GRCh38_POSITION=1:9735192;ESP6500_GTC=261,1381,4861;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014944.3:c.1854-18C>T,NM_001009566.1:c.1884-18C>T;ESP6500_MAF=5.2558,32.9324,14.6317;ESP6500_TAC=1903,11103	GT:AD:DP:GQ:PL	0/1:15,16:31:99:393,0,424
chr1	9735661	rs12569008	C	T	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.667;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.861;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12569008;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding|12/18|c.1735-46G>A||||||,T|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding|11/17|c.1678-46G>A||||||,T|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding|11/17|c.1705-46G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1536;p3_1000G_AF=0.306709;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=17881;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9795719;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2355,2051;ESP6500_AA_AGE=558.3+/-380.0;ESP6500_AA_GTC=625,1105,473;ESP6500_CDS_SIZES=NM_014944.3:2916,NM_001009566.1:2946;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=27;ESP6500_EA_AC=470,8130;ESP6500_EA_AGE=790.5+/-407.6;ESP6500_EA_GTC=17,436,3847;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014944.3:intron,NM_001009566.1:intron;ESP6500_GL=CLSTN1;ESP6500_GRCh38_POSITION=1:9735661;ESP6500_GTC=642,1541,4320;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014944.3:c.1705-46G>A,NM_001009566.1:c.1735-46G>A;ESP6500_MAF=5.4651,46.5502,21.7207;ESP6500_TAC=2825,10181	GT:AD:DP:GQ:PL	0/1:11,7:18:99:174,0,354
chr1	9741283	rs10864436	G	A	414.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.592;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.835;SOR=0.596;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864436;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding|9/18|c.1357-27C>T||||||,A|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding|9/17|c.1357-27C>T||||||,A|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding|8/17|c.1327-27C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=947;p3_1000G_AF=0.189097;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=20484;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9801341;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=789,3617;ESP6500_AA_AGE=318.0+/-295.4;ESP6500_AA_GTC=70,649,1484;ESP6500_CDS_SIZES=NM_014944.3:2916,NM_001009566.1:2946;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=81;ESP6500_EA_AC=691,7909;ESP6500_EA_AGE=170.7+/-221.8;ESP6500_EA_GTC=40,611,3649;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014944.3:intron,NM_001009566.1:intron;ESP6500_GL=CLSTN1;ESP6500_GRCh38_POSITION=1:9741283;ESP6500_GTC=110,1260,5133;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014944.3:c.1327-27C>T,NM_001009566.1:c.1357-27C>T;ESP6500_MAF=8.0349,17.9074,11.3794;ESP6500_TAC=1480,11526	GT:AD:DP:GQ:PL	0/1:15,17:32:99:443,0,416
chr1	9744635	rs7550295	C	T	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.664;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.404;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7550295;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding|8/19|c.994G>A|p.Ala332Thr|1787/5226|994/2946|332/981||,T|missense_variant|MODERATE|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding|8/18|c.994G>A|p.Ala332Thr|1787/5169|994/2889|332/962||,T|missense_variant|MODERATE|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding|7/18|c.964G>A|p.Ala322Thr|1757/5196|964/2916|322/971||;p3_1000G_AA=C|||;p3_1000G_AC=992;p3_1000G_AF=0.198083;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=14632;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9804693;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1026,3380;ESP6500_AA_GTC=122,782,1299;ESP6500_CDS_SIZES=NM_014944.3:2916,NM_001009566.1:2946;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=28;ESP6500_EA_AC=438,8160;ESP6500_EA_GTC=19,400,3880;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014944.3:missense,NM_001009566.1:missense;ESP6500_GL=CLSTN1;ESP6500_GRCh38_POSITION=1:9744635;ESP6500_GS=58,58;ESP6500_GTC=141,1182,5179;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014944.3:c.964G>A,NM_001009566.1:c.994G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014944.3:p.(A322T),NM_001009566.1:p.(A332T);ESP6500_MAF=5.0942,23.2864,11.2581;ESP6500_PH=benign:0.355,benign:0.355;ESP6500_TAC=1464,11540	GT:AD:DP:GQ:PL	0/1:12,10:22:99:247,0,380
chr1	9751483	rs11674	A	G	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.14;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-1.667;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11674;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding|5/19|c.639T>C|p.Val213Val|1432/5226|639/2946|213/981||,G|synonymous_variant|LOW|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding|5/18|c.639T>C|p.Val213Val|1432/5169|639/2889|213/962||,G|synonymous_variant|LOW|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding|4/18|c.609T>C|p.Val203Val|1402/5196|609/2916|203/971||;p3_1000G_AA=G|||;p3_1000G_AC=1550;p3_1000G_AF=0.309505;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=19507;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.0775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9811541;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2304,2102;ESP6500_AA_AGE=573.6+/-383.6;ESP6500_AA_GTC=595,1114,494;ESP6500_CDS_SIZES=NM_014944.3:2916,NM_001009566.1:2946;ESP6500_CG=-11.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=82;ESP6500_EA_AC=725,7875;ESP6500_EA_AGE=786.9+/-407.6;ESP6500_EA_GTC=41,643,3616;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014944.3:coding-synonymous,NM_001009566.1:coding-synonymous;ESP6500_GL=CLSTN1;ESP6500_GRCh38_POSITION=1:9751483;ESP6500_GTC=636,1757,4110;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014944.3:c.609T>C,NM_001009566.1:c.639T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014944.3:p.(V203),NM_001009566.1:p.(V213);ESP6500_MAF=8.4302,47.7077,23.2893;ESP6500_TAC=3029,9977	GT:AD:DP:GQ:PL	0/1:19,18:37:99:535,0,518
chr1	9755314	rs78589157	G	A	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.972;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.191;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78589157;dbSNPBuildID=131;ANN=A|splice_region_variant&intron_variant|LOW|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding|3/18|c.245-5C>T||||||,A|splice_region_variant&intron_variant|LOW|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding|3/17|c.245-5C>T||||||,A|splice_region_variant&intron_variant|LOW|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding|2/17|c.215-5C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=311;p3_1000G_AF=0.0621006;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=19758;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9815372;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=12,4394;ESP6500_AA_AGE=19.1+/-41.9;ESP6500_AA_GTC=0,12,2191;ESP6500_CDS_SIZES=NM_014944.3:2916,NM_001009566.1:2946;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=83;ESP6500_EA_AC=8,8592;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=0,8,4292;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014944.3:intron,NM_001009566.1:intron;ESP6500_GL=CLSTN1;ESP6500_GRCh38_POSITION=1:9755314;ESP6500_GTC=0,20,6483;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014944.3:c.215-5C>T,NM_001009566.1:c.245-5C>T;ESP6500_MAF=0.093,0.2724,0.1538;ESP6500_TAC=20,12986	GT:AD:DP:GQ:PL	0/1:6,5:11:99:147,0,146
chr1	9756562	rs6680090	T	C	471.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6680090;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding|2/18|c.215-52A>G||||||,C|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding|2/17|c.215-52A>G||||||,C|intron_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding|2/17|c.215-1253A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4919;p3_1000G_AF=0.982228;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=16152;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9816620;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9888;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2632,22;ESP6500_AA_GTC=1305,22,0;ESP6500_CDS_SIZES=NM_014944.3:2916,NM_001009566.1:2946;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=40;ESP6500_EA_AC=4398,216;ESP6500_EA_GTC=2096,206,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014944.3:intron,NM_001009566.1:intron;ESP6500_GL=CLSTN1;ESP6500_GRCh38_POSITION=1:9756562;ESP6500_GTC=3401,228,5;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014944.3:c.215-1253A>G,NM_001009566.1:c.215-52A>G;ESP6500_MAF=4.6814,0.8289,3.2746;ESP6500_TAC=7030,238	GT:AD:DP:GQ:PL	1/1:0,16:16:48:500,48,0
chr1	9828144	rs1767277	C	T	1398.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1767277;dbSNPBuildID=89;ANN=T|upstream_gene_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001009566.2|protein_coding||c.-4411G>A|||||3618|,T|upstream_gene_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_001302883.1|protein_coding||c.-4411G>A|||||3618|,T|upstream_gene_variant|MODIFIER|CLSTN1|CLSTN1|transcript|NM_014944.4|protein_coding||c.-4411G>A|||||3618|,T|intergenic_region|MODIFIER|CLSTN1-CTNNBIP1|CLSTN1-CTNNBIP1|intergenic_region|CLSTN1-CTNNBIP1|||n.9828144C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3743;p3_1000G_AF=0.747404;p3_1000G_AFR_AF=0.3759;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=12433;p3_1000G_EAS_AF=0.9107;p3_1000G_EUR_AF=0.9225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9888202;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1427,132,0
chr1	9922329	rs61743470	G	T	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.031;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.8;ReadPosRankSum=0.95;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61743470;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|LZIC|LZIC|transcript|NM_001316975.1|protein_coding|8/8|c.544C>A|p.Leu182Ile|790/1006|544/618|182/205||,T|downstream_gene_variant|MODIFIER|LZIC|LZIC|transcript|NM_001316974.1|protein_coding||c.*8070C>A|||||3969|,T|downstream_gene_variant|MODIFIER|LZIC|LZIC|transcript|NM_001316973.1|protein_coding||c.*8070C>A|||||3969|,T|downstream_gene_variant|MODIFIER|LZIC|LZIC|transcript|NM_001316976.1|protein_coding||c.*8027C>A|||||3969|,T|downstream_gene_variant|MODIFIER|LZIC|LZIC|transcript|NM_032368.4|protein_coding||c.*8070C>A|||||3969|;p3_1000G_AA=G|||;p3_1000G_AC=638;p3_1000G_AF=0.127396;p3_1000G_AFR_AF=0.1891;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=16933;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9982387;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,10:31:99:177,0,544
chr1	9936649	rs12065908	C	T	287.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.431;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=-1.604;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12065908;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LZIC|LZIC|transcript|NM_001316974.1|protein_coding|2/7|c.56-22G>A||||||,T|intron_variant|MODIFIER|LZIC|LZIC|transcript|NM_001316975.1|protein_coding|2/7|c.-8-22G>A||||||,T|intron_variant|MODIFIER|LZIC|LZIC|transcript|NM_001316973.1|protein_coding|2/7|c.-8-22G>A||||||,T|intron_variant|MODIFIER|LZIC|LZIC|transcript|NM_001316976.1|protein_coding|2/5|c.-8-22G>A||||||,T|intron_variant|MODIFIER|LZIC|LZIC|transcript|NM_032368.4|protein_coding|2/7|c.-8-22G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=500;p3_1000G_AF=0.0998403;p3_1000G_AFR_AF=0.1188;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=20428;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9996707;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=464,3940;ESP6500_AA_AGE=219.1+/-236.9;ESP6500_AA_GTC=29,406,1767;ESP6500_CDS_SIZES=NM_032368.3:573;ESP6500_CG=1.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=106;ESP6500_EA_AC=445,8153;ESP6500_EA_AGE=134.4+/-191.8;ESP6500_EA_GTC=10,425,3864;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032368.3:intron;ESP6500_GL=LZIC;ESP6500_GRCh38_POSITION=1:9936649;ESP6500_GTC=39,831,5631;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032368.3:c.-30G>A;ESP6500_MAF=5.1756,10.5359,6.9912;ESP6500_TAC=909,12093	GT:AD:DP:GQ:PL	0/1:24,13:37:99:316,0,727
chr1	9981240	rs747818869	AT	A	108.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.792;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=0.802;SOR=0.666;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|splice_region_variant&intron_variant|LOW|NMNAT1|NMNAT1|transcript|NM_001297779.1|protein_coding|4/4|c.440-3delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|NMNAT1|NMNAT1|transcript|NM_001297778.1|protein_coding|4/4|c.439+83delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|NMNAT1|NMNAT1|transcript|NM_022787.3|protein_coding|4/4|c.439+83delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:25,10:35:99:146,0,616
chr1	9985094	rs4073852	C	G	1037.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4073852;dbSNPBuildID=108;ANN=G|3_prime_UTR_variant|MODIFIER|NMNAT1|NMNAT1|transcript|NM_001297778.1|protein_coding|5/5|c.*2393C>G|||||2393|,G|3_prime_UTR_variant|MODIFIER|NMNAT1|NMNAT1|transcript|NM_022787.3|protein_coding|5/5|c.*2393C>G|||||2393|,G|downstream_gene_variant|MODIFIER|NMNAT1|NMNAT1|transcript|NM_001297779.1|protein_coding||c.*3795C>G|||||3328|;p3_1000G_AA=G|||;p3_1000G_AC=3609;p3_1000G_AF=0.720647;p3_1000G_AFR_AF=0.3933;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=21247;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10045152;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1066,96,0
chr1	10072435	rs34652791;rs533435461	C	CT	95.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.351;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.145;SOR=0.721;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34652791;dbSNPBuildID=142,126;ANN=CT|intron_variant|MODIFIER|UBE4B|UBE4B|transcript|NM_001105562.2|protein_coding|2/27|c.211+232dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|UBE4B|UBE4B|transcript|NM_006048.4|protein_coding|2/26|c.211+232dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1729;p3_1000G_AF=0.345248;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=20374;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10132493;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:20,9:29:99:133,0,484
chr1	10130826	rs2295294	A	T	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.851;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=6.107;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.525;SOR=0.145;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2295294;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|UBE4B|UBE4B|transcript|NM_001105562.2|protein_coding|14/27|c.1911+13A>T||||||,T|intron_variant|MODIFIER|UBE4B|UBE4B|transcript|NM_006048.4|protein_coding|13/26|c.1524+13A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2438;p3_1000G_AF=0.486821;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=7585;p3_1000G_EAS_AF=0.3869;p3_1000G_EUR_AF=0.3917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10190884;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2865,1541;ESP6500_AA_AGE=669.3+/-402.1;ESP6500_AA_GTC=930,1005,268;ESP6500_CDS_SIZES=NM_006048.4:3522,NM_001105562.2:3909;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=3376,5224;ESP6500_EA_AGE=498.7+/-374.8;ESP6500_EA_GTC=671,2034,1595;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006048.4:intron,NM_001105562.2:intron;ESP6500_GL=UBE4B;ESP6500_GRCh38_POSITION=1:10130826;ESP6500_GTC=1601,3039,1863;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_006048.4:c.1524+13A>T,NM_001105562.2:c.1911+13A>T;ESP6500_MAF=39.2558,34.975,47.9855;ESP6500_TAC=6241,6765	GT:AD:DP:GQ:PL	0/1:15,14:29:99:329,0,428
chr1	10158319	rs2273298	A	G	287.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.633;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=6.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.14;ReadPosRankSum=0.941;SOR=2.245;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273298;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|UBE4B|UBE4B|transcript|NM_001105562.2|protein_coding|21/27|c.2927-37A>G||||||,G|intron_variant|MODIFIER|UBE4B|UBE4B|transcript|NM_006048.4|protein_coding|20/26|c.2540-37A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1828;p3_1000G_AF=0.365016;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=19543;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10218377;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2922,1484;ESP6500_AA_AGE=455.9+/-351.1;ESP6500_AA_GTC=992,938,273;ESP6500_CDS_SIZES=NM_006048.4:3522,NM_001105562.2:3909;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=95;ESP6500_EA_AC=1125,7475;ESP6500_EA_AGE=762.9+/-407.6;ESP6500_EA_GTC=81,963,3256;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006048.4:intron,NM_001105562.2:intron;ESP6500_GL=UBE4B;ESP6500_GRCh38_POSITION=1:10158319;ESP6500_GTC=1073,1901,3529;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006048.4:c.2540-37A>G,NM_001105562.2:c.2927-37A>G;ESP6500_MAF=13.0814,33.6813,31.1164;ESP6500_TAC=4047,8959	GT:AD:DP:GQ:PL	0/1:3,10:13:77:316,0,77
chr1	10158381	rs2273299	T	C	347.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.198;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=1.03;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273299;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|UBE4B|UBE4B|transcript|NM_001105562.2|protein_coding|22/28|c.2952T>C|p.Ser984Ser|3640/5879|2952/3909|984/1302||,C|synonymous_variant|LOW|UBE4B|UBE4B|transcript|NM_006048.4|protein_coding|21/27|c.2565T>C|p.Ser855Ser|3253/5492|2565/3522|855/1173||;p3_1000G_AA=C|||;p3_1000G_AC=1832;p3_1000G_AF=0.365815;p3_1000G_AFR_AF=0.8033;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=19632;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10218439;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2942,1464;ESP6500_AA_AGE=472.0+/-356.2;ESP6500_AA_GTC=996,950,257;ESP6500_CDS_SIZES=NM_006048.4:3522,NM_001105562.2:3909;ESP6500_CG=-0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=139;ESP6500_EA_AC=1135,7465;ESP6500_EA_AGE=767.0+/-407.6;ESP6500_EA_GTC=81,973,3246;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006048.4:coding-synonymous,NM_001105562.2:coding-synonymous;ESP6500_GL=UBE4B;ESP6500_GRCh38_POSITION=1:10158381;ESP6500_GTC=1077,1923,3503;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006048.4:c.2565T>C,NM_001105562.2:c.2952T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006048.4:p.(S855),NM_001105562.2:p.(S984);ESP6500_MAF=13.1977,33.2274,31.3471;ESP6500_TAC=4077,8929	GT:AD:DP:GQ:PL	0/1:5,15:20:97:376,0,97
chr1	10171405	rs12092513	C	T	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.481;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=-0.265;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12092513;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|UBE4B|UBE4B|transcript|NM_001105562.2|protein_coding|25/27|c.3525+76C>T||||||,T|intron_variant|MODIFIER|UBE4B|UBE4B|transcript|NM_006048.4|protein_coding|24/26|c.3138+76C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1288;p3_1000G_AF=0.257188;p3_1000G_AFR_AF=0.615;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=20032;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.0785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10231463;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,9:14:99:256,0,142
chr1	10268371	rs367958094	C	G	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.336;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.494;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs367958094;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|KIF1B|KIF1B|transcript|NM_015074.3|protein_coding|7/46|c.720+108C>G||||||,G|intron_variant|MODIFIER|KIF1B|KIF1B|transcript|NM_183416.3|protein_coding|7/20|c.720+108C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17618;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10328429;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:183,0,177
chr1	10297148	rs199617049	AT	A	176.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.288;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=5.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=1.72;SOR=1.389;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs199617049;dbSNPBuildID=137;ANN=A|upstream_gene_variant|MODIFIER|RNU6-1|RNU6-1|transcript|NR_004394.1|pseudogene||n.-1817delT|||||1817|,A|upstream_gene_variant|MODIFIER|RNU6-9|RNU6-9|transcript|NR_104080.1|pseudogene||n.-1817delT|||||1817|,A|upstream_gene_variant|MODIFIER|RNU6-7|RNU6-7|transcript|NR_104084.1|pseudogene||n.-1817delT|||||1817|,A|upstream_gene_variant|MODIFIER|RNU6-8|RNU6-8|transcript|NR_104088.1|pseudogene||n.-1817delT|||||1817|,A|upstream_gene_variant|MODIFIER|RNU6-2|RNU6-2|transcript|NR_125730.1|pseudogene||n.-1817delT|||||1817|,A|intron_variant|MODIFIER|KIF1B|KIF1B|transcript|NM_015074.3|protein_coding|19/46|c.1905-9delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|KIF1B|KIF1B|transcript|NM_183416.3|protein_coding|19/20|c.1905-9delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:12,10:22:99:214,0,232
chr1	10341951	rs33942183;rs552912577;rs796572234	CA	C	99.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=1.48;SOR=1.347;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs33942183;dbSNPBuildID=137,142,146;ANN=C|intron_variant|MODIFIER|KIF1B|KIF1B|transcript|NM_015074.3|protein_coding|30/46|c.3376-82delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2662;p3_1000G_AF=0.53155;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=18731;p3_1000G_EAS_AF=0.506;p3_1000G_EUR_AF=0.5308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10402009;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,7:16:99:137,0,154
chr1	10418773	rs370777082	CA	C	85.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.248;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=-0.451;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs370777082;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|PGD|PGD|transcript|NM_002631.3|protein_coding|10/12|c.1110-36delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PGD|PGD|transcript|NM_001304451.1|protein_coding|9/11|c.1044-36delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PGD|PGD|transcript|NM_001304452.1|protein_coding|10/12|c.1071-36delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,7:15:99:123,0,141
chr1	10419728	rs146093154	A	G	2157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=168;ExcessHet=3.0103;FS=0.579;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.48;SOR=0.749;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146093154;dbSNPBuildID=134;ANN=G|synonymous_variant|LOW|PGD|PGD|transcript|NM_002631.3|protein_coding|13/13|c.1431A>G|p.Ser477Ser|1557/2340|1431/1452|477/483||,G|synonymous_variant|LOW|PGD|PGD|transcript|NM_001304451.1|protein_coding|12/12|c.1365A>G|p.Ser455Ser|1491/2274|1365/1386|455/461||,G|synonymous_variant|LOW|PGD|PGD|transcript|NM_001304452.1|protein_coding|13/13|c.1392A>G|p.Ser464Ser|1636/2419|1392/1413|464/470||;p3_1000G_AA=A|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21141;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10479785;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_002631.2:1452;ESP6500_CG=-10.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=190;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002631.2:coding-synonymous;ESP6500_GL=PGD;ESP6500_GRCh38_POSITION=1:10419728;ESP6500_GTC=0,3,6500;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002631.2:c.1431A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002631.2:p.(S477);ESP6500_MAF=0.0116,0.0454,0.0231;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PL	0/1:89,79:168:99:2186,0,2230
chr1	10430482	rs661256	G	C	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=0.752;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs661256;dbSNPBuildID=83;ANN=C|5_prime_UTR_variant|MODIFIER|APITD1|APITD1|transcript|NM_199294.2|protein_coding|1/5|c.-36G>C|||||36|,C|5_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_198544.3|protein_coding|1/5|c.-36G>C|||||36|,C|5_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001270517.1|protein_coding|1/6|c.-36G>C|||||36|,C|5_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_199006.2|protein_coding|1/4|c.-36G>C|||||36|,C|upstream_gene_variant|MODIFIER|APITD1|APITD1|transcript|NR_036462.1|pseudogene||n.-265G>C|||||265|,C|upstream_gene_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001243768.1|protein_coding||c.-808G>C|||||265|,C|upstream_gene_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NR_037187.1|pseudogene||n.-265G>C|||||265|;p3_1000G_AA=G|||;p3_1000G_AC=779;p3_1000G_AF=0.155551;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=11404;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.0696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10490539;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=535,3063;ESP6500_AA_GTC=35,465,1299;ESP6500_CDS_SIZES=NM_199294.2:417,NM_199006.2:234,NM_198544.3:495,NM_001270517.1:417;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=22;ESP6500_EA_AC=372,6454;ESP6500_EA_GTC=12,348,3053;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199294.2:utr-5,NM_199006.2:utr-5,NM_198544.3:utr-5,NM_001270517.1:utr-5;ESP6500_GL=APITD1,APITD1-CORT;ESP6500_GRCh38_POSITION=1:10430482;ESP6500_GTC=47,813,4352;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_199294.2:c.-36G>C,NM_199006.2:c.-36G>C,NM_198544.3:c.-36G>C,NM_001270517.1:c.-36G>C;ESP6500_MAF=5.4498,14.8694,8.7011;ESP6500_TAC=907,9517	GT:AD:DP:GQ:PL	0/1:11,8:19:99:204,0,227
chr1	10430493	rs661272	G	C	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.471;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.265;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs661272;dbSNPBuildID=83;ANN=C|5_prime_UTR_variant|MODIFIER|APITD1|APITD1|transcript|NM_199294.2|protein_coding|1/5|c.-25G>C|||||25|,C|5_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_198544.3|protein_coding|1/5|c.-25G>C|||||25|,C|5_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001270517.1|protein_coding|1/6|c.-25G>C|||||25|,C|5_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_199006.2|protein_coding|1/4|c.-25G>C|||||25|,C|upstream_gene_variant|MODIFIER|APITD1|APITD1|transcript|NR_036462.1|pseudogene||n.-254G>C|||||254|,C|upstream_gene_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001243768.1|protein_coding||c.-797G>C|||||254|,C|upstream_gene_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NR_037187.1|pseudogene||n.-254G>C|||||254|;p3_1000G_AA=G|||;p3_1000G_AC=779;p3_1000G_AF=0.155551;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=11545;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10490550;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=570,3158;ESP6500_AA_GTC=35,500,1329;ESP6500_CDS_SIZES=NM_199294.2:417,NM_199006.2:234,NM_198544.3:495,NM_001270517.1:417;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=25;ESP6500_EA_AC=405,6725;ESP6500_EA_GTC=13,379,3173;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199294.2:utr-5,NM_199006.2:utr-5,NM_198544.3:utr-5,NM_001270517.1:utr-5;ESP6500_GL=APITD1,APITD1-CORT;ESP6500_GRCh38_POSITION=1:10430493;ESP6500_GTC=48,879,4502;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_199294.2:c.-25G>C,NM_199006.2:c.-25G>C,NM_198544.3:c.-25G>C,NM_001270517.1:c.-25G>C;ESP6500_MAF=5.6802,15.2897,8.9796;ESP6500_TAC=975,9883	GT:AD:DP:GQ:PL	0/1:11,10:21:99:202,0,212
chr1	10442250	rs33919161;rs397979185	AT	A	24.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=2.37;SOR=0.818;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs33919161;dbSNPBuildID=134,138;ANN=A|splice_region_variant&intron_variant|LOW|APITD1|APITD1|transcript|NM_199294.2|protein_coding|4/4|c.277-5delT||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|APITD1-CORT|APITD1-CORT|transcript|NM_001270517.1|protein_coding|4/5|c.277-5delT||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|APITD1|APITD1|transcript|NR_036462.1|pseudogene|4/4|n.881-5delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_198544.3|protein_coding|4/4|c.276+1847delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_199006.2|protein_coding|3/3|c.209+7570delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001243768.1|protein_coding|3/3|c.213+1847delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NR_037187.1|pseudogene|2/2|n.722+1847delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4211;p3_1000G_AF=0.840855;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=14712;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.9314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10502307;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=INDEL;ESP6500_AA_AC=3489,773;ESP6500_AA_GTC=1425,639,67;ESP6500_CDS_SIZES=NM_199294.2:417,NM_199006.2:234,NM_198544.3:495,NM_001270517.1:417,NM_001243768.1:432;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=36;ESP6500_EA_AC=7678,572;ESP6500_EA_GTC=3576,526,23;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199294.2:intron,NM_199006.2:intron,NM_198544.3:intron,NM_001270517.1:intron,NM_001243768.1:intron;ESP6500_GL=APITD1,APITD1-CORT;ESP6500_GRCh38_POSITION=1:10442250;ESP6500_GTC=5001,1165,90;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_199294.2:c.277-14del1,NM_199006.2:c.209+7561del1,NM_198544.3:c.276+1838del1,NM_001270517.1:c.277-14del1,NM_001243768.1:c.213+1838del1;ESP6500_MAF=6.9333,18.137,10.7497;ESP6500_TAC=11167,1345	GT:AD:DP:GQ:PL	0/1:5,3:8:62:62,0,119
chr1	10451273	rs3838398;rs796561017	AT	A	132.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.13;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3838398;dbSNPBuildID=107,146;ANN=A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_198544.3|protein_coding|4/4|c.277-93delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CORT|CORT|transcript|NM_001302.4|protein_coding|1/1|c.100-93delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001270517.1|protein_coding|5/5|c.*37-93delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_199006.2|protein_coding|3/3|c.210-93delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001243768.1|protein_coding|3/3|c.214-93delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NR_037187.1|pseudogene|2/2|n.723-93delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2319;p3_1000G_AF=0.463059;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=18096;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.502;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10511330;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:170,18,0
chr1	10451487	rs628462	C	T	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.006;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=7.013;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.109;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs628462;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|APITD1-CORT|APITD1-CORT|transcript|NM_198544.3|protein_coding|5/5|c.387C>T|p.Ala129Ala|803/1319|387/495|129/164||,T|synonymous_variant|LOW|CORT|CORT|transcript|NM_001302.4|protein_coding|2/2|c.210C>T|p.Ala70Ala|715/1231|210/318|70/105||,T|synonymous_variant|LOW|APITD1-CORT|APITD1-CORT|transcript|NM_001243768.1|protein_coding|4/4|c.324C>T|p.Ala108Ala|867/1383|324/432|108/143||,T|3_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001270517.1|protein_coding|6/6|c.*147C>T|||||9082|,T|3_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_199006.2|protein_coding|4/4|c.*86C>T|||||86|,T|non_coding_transcript_exon_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NR_037187.1|pseudogene|3/3|n.833C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1440;p3_1000G_AF=0.28754;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=14123;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.3907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10511544;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=351,4051;ESP6500_AA_GTC=21,309,1871;ESP6500_CDS_SIZES=NM_199006.2:234,NM_198544.3:495,NM_001302.4:318,NM_001270517.1:417,NM_001243768.1:432;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=28;ESP6500_EA_AC=3414,5182;ESP6500_EA_GTC=682,2050,1566;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199006.2:utr-3,NM_198544.3:coding-synonymous,NM_001302.4:coding-synonymous,NM_001270517.1:utr-3,NM_001243768.1:coding-synonymous;ESP6500_GL=CORT,APITD1-CORT;ESP6500_GRCh38_POSITION=1:10451487;ESP6500_GTC=703,2359,3437;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_199006.2:c.*86C>T,NM_198544.3:c.387C>T,NM_001302.4:c.210C>T,NM_001270517.1:c.*9082C>T,NM_001243768.1:c.324C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_198544.3:p.(A129),NM_001302.4:p.(A70),.,NM_001243768.1:p.(A108);ESP6500_MAF=39.7161,7.9736,28.966;ESP6500_TAC=3765,9233	GT:AD:DP:GQ:PL	0/1:18,25:43:99:678,0,496
chr1	10451532	rs666103	T	C	747.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.213;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.966;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.387;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs666103;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|APITD1-CORT|APITD1-CORT|transcript|NM_198544.3|protein_coding|5/5|c.432T>C|p.Ser144Ser|848/1319|432/495|144/164||,C|synonymous_variant|LOW|CORT|CORT|transcript|NM_001302.4|protein_coding|2/2|c.255T>C|p.Ser85Ser|760/1231|255/318|85/105||,C|synonymous_variant|LOW|APITD1-CORT|APITD1-CORT|transcript|NM_001243768.1|protein_coding|4/4|c.369T>C|p.Ser123Ser|912/1383|369/432|123/143||,C|3_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_001270517.1|protein_coding|6/6|c.*192T>C|||||9127|,C|3_prime_UTR_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NM_199006.2|protein_coding|4/4|c.*131T>C|||||131|,C|non_coding_transcript_exon_variant|MODIFIER|APITD1-CORT|APITD1-CORT|transcript|NR_037187.1|pseudogene|3/3|n.878T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4345;p3_1000G_AF=0.867612;p3_1000G_AFR_AF=0.8759;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=14471;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.9344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10511589;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3987,413;ESP6500_AA_GTC=1804,379,17;ESP6500_CDS_SIZES=NM_199006.2:234,NM_198544.3:495,NM_001302.4:318,NM_001270517.1:417,NM_001243768.1:432;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=21;ESP6500_EA_AC=8061,537;ESP6500_EA_GTC=3783,495,21;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199006.2:utr-3,NM_198544.3:coding-synonymous,NM_001302.4:coding-synonymous,NM_001270517.1:utr-3,NM_001243768.1:coding-synonymous;ESP6500_GL=CORT,APITD1-CORT;ESP6500_GRCh38_POSITION=1:10451532;ESP6500_GTC=5587,874,38;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_199006.2:c.*131T>C,NM_198544.3:c.432T>C,NM_001302.4:c.255T>C,NM_001270517.1:c.*9127T>C,NM_001243768.1:c.369T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_198544.3:p.(S144),NM_001302.4:p.(S85),.,NM_001243768.1:p.(S123);ESP6500_MAF=6.2456,9.3864,7.3088;ESP6500_TAC=12048,950	GT:AD:DP:GQ:PL	0/1:24,29:53:99:776,0,660
chr1	10469137	rs2781233	T	C	898.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.59;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=12;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=1.11;SOR=2.439;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2781233;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DFFA|DFFA|transcript|NM_004401.2|protein_coding|2/5|c.298+40A>G||||||,C|intron_variant|MODIFIER|DFFA|DFFA|transcript|NM_213566.1|protein_coding|2/4|c.298+40A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1825;p3_1000G_AF=0.364417;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=23682;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10529194;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=922,3484;ESP6500_AA_AGE=352.6+/-311.8;ESP6500_AA_GTC=104,714,1385;ESP6500_CDS_SIZES=NM_213566.1:807,NM_004401.2:996;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=105;ESP6500_EA_AC=4468,4132;ESP6500_EA_AGE=589.5+/-392.5;ESP6500_EA_GTC=1161,2146,993;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213566.1:intron,NM_004401.2:intron;ESP6500_GL=DFFA;ESP6500_GRCh38_POSITION=1:10469137;ESP6500_GTC=1265,2860,2378;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_213566.1:c.298+40A>G,NM_004401.2:c.298+40A>G;ESP6500_MAF=48.0465,20.926,41.4424;ESP6500_TAC=5390,7616	GT:AD:DP:GQ:PL	0/1:26,28:54:99:927,0,648
chr1	10495200	rs622623	C	T	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.046;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-1.318;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs622623;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|PEX14|PEX14|transcript|NM_004565.2|protein_coding|1/8|c.37-74C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3240;p3_1000G_AF=0.646965;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=21140;p3_1000G_EAS_AF=0.8095;p3_1000G_EUR_AF=0.7087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10555257;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7362;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=692,692;ESP6500_AA_GTC=176,340,176;ESP6500_CDS_SIZES=NM_004565.2:1134;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=234;ESP6500_EA_AC=2213,969;ESP6500_EA_GTC=782,649,160;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004565.2:intron;ESP6500_GL=PEX14;ESP6500_GRCh38_POSITION=1:10495200;ESP6500_GTC=958,989,336;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004565.2:c.37-74C>T;ESP6500_MAF=30.4525,50.0,36.3776;ESP6500_TAC=2905,1661	GT:AD:DP:GQ:PL	0/1:14,16:30:99:403,0,336
chr1	10536284	rs12375;259434	C	T	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.812;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.135;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12375;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|PEX14|PEX14|transcript|NM_004565.2|protein_coding|3/9|c.156C>T|p.Phe52Phe|177/1929|156/1134|52/377||;p3_1000G_AA=C|||;p3_1000G_AC=1142;p3_1000G_AF=0.228035;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=16571;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.3141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10596341;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=472,3934;ESP6500_AA_AGE=220.7+/-238.1;ESP6500_AA_GTC=30,412,1761;ESP6500_CDS_SIZES=NM_004565.2:1134;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=51;ESP6500_EA_AC=2770,5830;ESP6500_EA_AGE=432.8+/-357.2;ESP6500_EA_GTC=469,1832,1999;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004565.2:coding-synonymous;ESP6500_GL=PEX14;ESP6500_GRCh38_POSITION=1:10536284;ESP6500_GTC=499,2244,3760;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004565.2:c.156C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004565.2:p.(F52);ESP6500_MAF=32.2093,10.7127,24.927;ESP6500_TAC=3242,9764;CLINVAR_AF_ESP=0.2493;CLINVAR_AF_EXAC=0.28431;CLINVAR_AF_TGP=0.2280;CLINVAR_ALLELEID=249350;CLINVAR_CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374;CLINVAR_CLNDN=Zellweger_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.10536284C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:208;CLINVAR_GENEINFO=PEX14:5195;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12375	GT:AD:DP:GQ:PL	0/1:8,7:15:99:143,0,224
chr1	10536331	rs2480779	A	G	198.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2480779;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PEX14|PEX14|transcript|NM_004565.2|protein_coding|3/8|c.169+34A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4771;p3_1000G_AF=0.952676;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=15967;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10596388;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3874,532;ESP6500_AA_AGE=235.5+/-248.0;ESP6500_AA_GTC=1708,458,37;ESP6500_CDS_SIZES=NM_004565.2:1134;ESP6500_CG=-0.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=8591,9;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=4291,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004565.2:intron;ESP6500_GL=PEX14;ESP6500_GRCh38_POSITION=1:10536331;ESP6500_GTC=5999,467,37;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004565.2:c.169+34A>G;ESP6500_MAF=0.1047,12.0744,4.1596;ESP6500_TAC=12465,541	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0
chr1	10629885	rs11539794;167454	G	T	1119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11539794;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|PEX14|PEX14|transcript|NM_004565.2|protein_coding|9/9|c.1032G>T|p.Gly344Gly|1053/1929|1032/1134|344/377||;p3_1000G_AA=G|||;p3_1000G_AC=519;p3_1000G_AF=0.103634;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=16747;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0.1948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10689942;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=200,4202;ESP6500_AA_AGE=123.7+/-161.0;ESP6500_AA_GTC=3,194,2004;ESP6500_CDS_SIZES=NM_004565.2:1134;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=188;ESP6500_EA_AC=1631,6969;ESP6500_EA_AGE=298.5+/-303.9;ESP6500_EA_GTC=148,1335,2817;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004565.2:coding-synonymous;ESP6500_GL=PEX14;ESP6500_GRCh38_POSITION=1:10629885;ESP6500_GTC=151,1529,4821;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_004565.2:c.1032G>T;ESP6500_HGVS_PROTEIN_VAR=NM_004565.2:p.(G344);ESP6500_MAF=18.9651,4.5434,14.0824;ESP6500_TAC=1831,11171;CLINVAR_AF_ESP=0.1408;CLINVAR_AF_EXAC=0.15776;CLINVAR_AF_TGP=0.1036;CLINVAR_ALLELEID=177935;CLINVAR_CLNDISDB=MedGen:C0043459,OMIM:214100,Orphanet:ORPHA912,SNOMED_CT:88469006|MedGen:CN169374;CLINVAR_CLNDN=Zellweger_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.10629885G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47237;CLINVAR_GENEINFO=PEX14:5195;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11539794	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1148,102,0
chr1	10647708	rs545556239	G	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.024;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.181;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|3_prime_UTR_variant|MODIFIER|CASZ1|CASZ1|transcript|NM_017766.4|protein_coding|16/16|c.*89C>T|||||89|,A|intron_variant|MODIFIER|CASZ1|CASZ1|transcript|NM_001079843.2|protein_coding|16/20|c.3497+93C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20202;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10707765;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:240,0,227
chr1	10948786	rs117183901	G	A	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.044;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.818;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117183901;dbSNPBuildID=135;ANN=A|missense_variant|MODERATE|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|12/13|c.1349C>T|p.Ala450Val|1349/2761|1349/2472|450/823||;p3_1000G_AA=G|||;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18449;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11008843;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,7:19:99:0|1:10948786_G_A:258,0,647
chr1	10948787	rs117528334	C	G	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.976;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.818;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117528334;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|12/13|c.1348G>C|p.Ala450Pro|1348/2761|1348/2472|450/823||;p3_1000G_AA=C|||;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18480;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11008844;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,7:19:99:0|1:10948786_G_A:258,0,647
chr1	10953912	rs145231798	G	A	616.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.28;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.84;ReadPosRankSum=-1.438;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145231798;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|10/12|c.1099+107C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=22;p3_1000G_AF=0.00439297;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21481;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11013969;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,19:27:99:645,0,258
chr1	10964214	rs11121662	G	T	1508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.736;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.054;SOR=0.652;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121662;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|5/13|c.430C>A|p.Arg144Arg|430/2761|430/2472|144/823||;p3_1000G_AA=G|||;p3_1000G_AC=449;p3_1000G_AF=0.0896565;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=21247;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.0527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11024271;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=180,4226;ESP6500_AA_AGE=117.1+/-155.0;ESP6500_AA_GTC=8,164,2031;ESP6500_CDS_SIZES=NM_001170754.1:2472;ESP6500_CG=2.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=99;ESP6500_EA_AC=361,8239;ESP6500_EA_AGE=120.8+/-180.0;ESP6500_EA_GTC=10,341,3949;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001170754.1:coding-synonymous;ESP6500_GL=C1orf127;ESP6500_GRCh38_POSITION=1:10964214;ESP6500_GTC=18,505,5980;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001170754.1:c.430C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001170754.1:p.(R144);ESP6500_MAF=4.1977,4.0853,4.1596;ESP6500_TAC=541,12465	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1537,0,1331
chr1	10964296	rs6659231	A	G	1177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0.866;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.133;SOR=0.541;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6659231;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|4/12|c.373-25T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2217;p3_1000G_AF=0.442692;p3_1000G_AFR_AF=0.5333;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=23053;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11024353;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=689,695;ESP6500_AA_GTC=180,329,183;ESP6500_CDS_SIZES=NM_001170754.1:2472;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=103;ESP6500_EA_AC=792,2390;ESP6500_EA_GTC=106,580,905;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001170754.1:intron;ESP6500_GL=C1orf127;ESP6500_GRCh38_POSITION=1:10964296;ESP6500_GTC=286,909,1088;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001170754.1:c.373-25T>C;ESP6500_MAF=24.89,49.7832,32.4354;ESP6500_TAC=1481,3085	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1206,0,1097
chr1	10964324	rs6659326	A	G	792.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.396;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=2.564;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.504;SOR=0.325;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6659326;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|4/12|c.373-53T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2742;p3_1000G_AF=0.547524;p3_1000G_AFR_AF=0.8707;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=22530;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.2903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11024381;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,31:62:99:821,0,850
chr1	10964338	rs11121663	T	C	653.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=3.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.323;SOR=0.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121663;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|4/12|c.373-67A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1974;p3_1000G_AF=0.394169;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=22647;p3_1000G_EAS_AF=0.4206;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11024395;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,24:50:99:682,0,708
chr1	10969885	rs56102775	G	A	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.59;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.206;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56102775;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|3/12|c.247+85C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=714;p3_1000G_AF=0.142572;p3_1000G_AFR_AF=0.1392;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=16364;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11029942;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,11:18:99:321,0,207
chr1	10969957	rs56044863	G	A	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.249;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.625;SOR=0.507;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56044863;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding|3/12|c.247+13C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=944;p3_1000G_AF=0.188498;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=15551;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.0825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11030014;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=311,1073;ESP6500_AA_GTC=33,245,414;ESP6500_CDS_SIZES=NM_001170754.1:2472;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=62;ESP6500_EA_AC=211,2971;ESP6500_EA_GTC=8,195,1388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001170754.1:intron;ESP6500_GL=C1orf127;ESP6500_GRCh38_POSITION=1:10969957;ESP6500_GTC=41,440,1802;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001170754.1:c.247+13C>T;ESP6500_MAF=6.631,22.4711,11.4323;ESP6500_TAC=522,4044	GT:AD:DP:GQ:PL	0/1:16,19:35:99:442,0,361
chr1	10982144	rs56848003	C	CAG	268.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-0.338;SOR=0.836;INS;HET;VARTYPE=INS;dbSNP138_ID=rs56848003;dbSNPBuildID=129;ANN=CAG|upstream_gene_variant|MODIFIER|C1orf127|C1orf127|transcript|NM_001170754.1|protein_coding||c.-108_-107insCT|||||108|,CAG|intergenic_region|MODIFIER|C1orf127-TARDBP|C1orf127-TARDBP|intergenic_region|C1orf127-TARDBP|||n.10982144_10982145insAG||||||	GT:AD:DP:GQ:PL	0/1:7,8:15:99:306,0,283
chr1	11020666	rs143130606;522225	T	TG	413.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.49;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.81;ReadPosRankSum=1.81;SOR=0.636;INS;HET;VARTYPE=INS;dbSNP138_ID=rs143130606;dbSNPBuildID=134;ANN=TG|intron_variant|MODIFIER|TARDBP|TARDBP|transcript|NM_007375.3|protein_coding|5/5|c.714+69dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GG|GGG|deletion;p3_1000G_AC=4584;p3_1000G_AF=0.915335;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=16415;p3_1000G_EAS_AF=0.9226;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11080723;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=512791;CLINVAR_CLNDISDB=MedGen:C2677565,OMIM:612069;CLINVAR_CLNDN=Amyotrophic_lateral_sclerosis_type_10;CLINVAR_CLNHGVS=NC_000001.11:g.11020666_11020667insG;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_GENEINFO=TARDBP:23435;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=143130606	GT:AD:DP:GQ:PL	0/1:8,14:22:99:451,0,219
chr1	11027467	rs1782455;291781	G	A	837.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.688;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=8.554;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.348;SOR=1.195;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1782455;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|MASP2|MASP2|transcript|NM_006610.3|protein_coding|11/11|c.1479C>T|p.Ser493Ser|1511/2455|1479/2061|493/686||,A|downstream_gene_variant|MODIFIER|TARDBP|TARDBP|transcript|NM_007375.3|protein_coding||c.*4813G>A|||||1975|;p3_1000G_AA=G|||;p3_1000G_AC=3443;p3_1000G_AF=0.6875;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=19941;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.84;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11087524;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1591,2815;ESP6500_AA_AGE=493.8+/-362.8;ESP6500_AA_GTC=303,985,915;ESP6500_CDS_SIZES=NM_006610.3:2061;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=172;ESP6500_EA_AC=7164,1436;ESP6500_EA_AGE=751.8+/-407.4;ESP6500_EA_GTC=2993,1178,129;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006610.3:coding-synonymous;ESP6500_GL=MASP2;ESP6500_GRCh38_POSITION=1:11027467;ESP6500_GTC=3296,2163,1044;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006610.3:c.1479C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006610.3:p.(S493);ESP6500_MAF=16.6977,36.1099,32.6849;ESP6500_TAC=8755,4251;CLINVAR_ALLELEID=275846;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C3151085,OMIM:613791,Orphanet:ORPHA331187|MedGen:CN169374|MedGen:CN239175;CLINVAR_CLNDN=Frontotemporal_dementia|MASP2_deficiency|not_specified|Amyotrophic_Lateral_Sclerosis,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.11027467G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:188;CLINVAR_GENEINFO=MASP2:10747|TARDBP:23435;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1782455	GT:AD:DP:GQ:PL	0/1:30,35:65:99:866,0,807
chr1	11030840	rs2273346;291785	A	G	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.556;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.386;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=1.63;SOR=0.415;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273346;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|MASP2|MASP2|transcript|NM_006610.3|protein_coding|9/11|c.1130T>C|p.Val377Ala|1162/2455|1130/2061|377/686||;p3_1000G_AA=A|||;p3_1000G_AC=593;p3_1000G_AF=0.118411;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=19371;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.0199;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11090897;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1176;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=564,3842;ESP6500_AA_AGE=253.7+/-259.5;ESP6500_AA_GTC=35,494,1674;ESP6500_CDS_SIZES=NM_006610.3:2061;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=87;ESP6500_EA_AC=156,8444;ESP6500_EA_AGE=74.8+/-137.4;ESP6500_EA_GTC=0,156,4144;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006610.3:missense;ESP6500_GL=MASP2;ESP6500_GRCh38_POSITION=1:11030840;ESP6500_GS=64;ESP6500_GTC=35,650,5818;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006610.3:c.1130T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006610.3:p.(V377A);ESP6500_MAF=1.814,12.8007,5.5359;ESP6500_PH=benign:0.002;ESP6500_TAC=720,12286;CLINVAR_AF_ESP=0.0554;CLINVAR_AF_EXAC=0.05286;CLINVAR_AF_TGP=0.1184;CLINVAR_ALLELEID=275927;CLINVAR_CLNDISDB=MedGen:C3151085,OMIM:613791,Orphanet:ORPHA331187;CLINVAR_CLNDN=MASP2_deficiency;CLINVAR_CLNHGVS=NC_000001.11:g.11030840A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59547|UniProtKB_(protein):O00187#VAR_028786;CLINVAR_GENEINFO=MASP2:10747;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2273346	GT:AD:DP:GQ:PGT:PID:PL	0/1:36,19:55:99:0|1:11030838_C_A:415,0,889
chr1	11030974	rs9430176	G	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.429;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.389;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9430176;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|MASP2|MASP2|transcript|NM_006610.3|protein_coding|8/10|c.1088-92C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=490;p3_1000G_AF=0.0978435;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=18574;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11091031;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:150,0,206
chr1	11034982	rs6695096	C	T	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.957;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-1.08;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6695096;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MASP2|MASP2|transcript|NM_006610.3|protein_coding|7/10|c.1009-76G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4219;p3_1000G_AF=0.842452;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=17161;p3_1000G_EAS_AF=0.8661;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11095039;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:183,0,187
chr1	11037810	rs12142107;291790	C	T	675.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.226;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.596;SOR=0.681;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12142107;dbSNPBuildID=120;ANN=T|splice_region_variant&synonymous_variant|LOW|MASP2|MASP2|transcript|NM_006610.3|protein_coding|7/11|c.891G>A|p.Ala297Ala|923/2455|891/2061|297/686||;p3_1000G_AA=C|||;p3_1000G_AC=658;p3_1000G_AF=0.13139;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=18493;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11097867;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=905,3501;ESP6500_AA_AGE=348.2+/-309.8;ESP6500_AA_GTC=95,715,1393;ESP6500_CDS_SIZES=NM_006610.3:2061;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=98;ESP6500_EA_AC=181,8419;ESP6500_EA_AGE=82.0+/-144.6;ESP6500_EA_GTC=2,177,4121;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006610.3:coding-synonymous-near-splice;ESP6500_GL=MASP2;ESP6500_GRCh38_POSITION=1:11037810;ESP6500_GTC=97,892,5514;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006610.3:c.891G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006610.3:p.(A297);ESP6500_MAF=2.1047,20.5402,8.35;ESP6500_TAC=1086,11920;CLINVAR_AF_ESP=0.0835;CLINVAR_AF_EXAC=0.06177;CLINVAR_AF_TGP=0.1314;CLINVAR_ALLELEID=275866;CLINVAR_CLNDISDB=MedGen:C3151085,OMIM:613791,Orphanet:ORPHA331187;CLINVAR_CLNDN=MASP2_deficiency;CLINVAR_CLNHGVS=NC_000001.11:g.11037810C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59550;CLINVAR_GENEINFO=MASP2:10747;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12142107	GT:AD:DP:GQ:PL	0/1:24,27:51:99:704,0,618
chr1	11043295	rs3737612	G	A	444.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.671;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.64;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.759;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737612;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|MASP2|MASP2|transcript|NM_139208.2|protein_coding||c.*1645C>T|||||1503|,A|intron_variant|MODIFIER|MASP2|MASP2|transcript|NM_006610.3|protein_coding|5/10|c.741+44C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18377;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11103352;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,19:31:99:473,0,322
chr1	11045065	rs2273344	C	T	19.81	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.854;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.48;ReadPosRankSum=-0.366;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273344;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MASP2|MASP2|transcript|NM_006610.3|protein_coding|4/10|c.544+343G>A||||||,T|intron_variant|MODIFIER|MASP2|MASP2|transcript|NM_139208.2|protein_coding|4/4|c.545-112G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4224;p3_1000G_AF=0.84345;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=16680;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.7962;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11105122;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:48:48,0,148
chr1	11054883	rs13616	G	T	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.003;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.498;SOR=1.163;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13616;dbSNPBuildID=52;ANN=T|structural_interaction_variant|HIGH|SRM|SRM|interaction|2O05:B_218-B_297:NM_003132.2|protein_coding|8/8|c.891C>A||||||,T|structural_interaction_variant|HIGH|SRM|SRM|interaction|3RW9:A_218-A_297:NM_003132.2|protein_coding|8/8|c.891C>A||||||,T|structural_interaction_variant|HIGH|SRM|SRM|interaction|3RW9:B_218-B_297:NM_003132.2|protein_coding|8/8|c.891C>A||||||,T|splice_region_variant&synonymous_variant|LOW|SRM|SRM|transcript|NM_003132.2|protein_coding|8/8|c.891C>A|p.Ala297Ala|982/1273|891/909|297/302||;p3_1000G_AA=G|||;p3_1000G_AC=840;p3_1000G_AF=0.167732;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=10717;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.0249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11114940;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=913,3493;ESP6500_AA_AGE=335.5+/-303.9;ESP6500_AA_GTC=104,705,1394;ESP6500_CDS_SIZES=NM_003132.2:909;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=34;ESP6500_EA_AC=195,8405;ESP6500_EA_AGE=84.5+/-147.0;ESP6500_EA_GTC=3,189,4108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003132.2:coding-synonymous;ESP6500_GL=SRM;ESP6500_GRCh38_POSITION=1:11054883;ESP6500_GTC=107,894,5502;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003132.2:c.891C>A;ESP6500_HGVS_PROTEIN_VAR=NM_003132.2:p.(A297);ESP6500_MAF=2.2674,20.7217,8.5191;ESP6500_TAC=1108,11898	GT:AD:DP:GQ:PL	0/1:7,11:18:99:268,0,137
chr1	11055120	rs745501964	CTT	C	41.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.22;ReadPosRankSum=-2.369;SOR=0.818;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|SRM|SRM|transcript|NM_003132.2|protein_coding|6/7|c.766-38_766-37delAA||||||	GT:AD:DP:GQ:PL	0/1:5,3:8:79:79,0,135
chr1	11066791	rs41274502	T	C	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.658;SOR=1.535;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41274502;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|24/24|c.2628-43A>G||||||,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|23/23|c.2553-43A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=17479;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11126848;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=396,4010;ESP6500_AA_AGE=197.4+/-221.5;ESP6500_AA_GTC=18,360,1825;ESP6500_CDS_SIZES=NM_002685.2:2583,NM_001001998.1:2658;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=82;ESP6500_EA_AC=192,8408;ESP6500_EA_AGE=84.8+/-147.2;ESP6500_EA_GTC=3,186,4111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002685.2:intron,NM_001001998.1:intron;ESP6500_GL=EXOSC10;ESP6500_GRCh38_POSITION=1:11066791;ESP6500_GTC=21,546,5936;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002685.2:c.2553-43A>G,NM_001001998.1:c.2628-43A>G;ESP6500_MAF=2.2326,8.9877,4.521;ESP6500_TAC=588,12418	GT:AD:DP:GQ:PL	0/1:7,7:14:99:185,0,143
chr1	11069791	rs2791653	A	G	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.521;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2791653;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|21/24|c.2317-61T>C||||||,G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|20/23|c.2242-61T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3638;p3_1000G_AF=0.726438;p3_1000G_AFR_AF=0.3699;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=17756;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.7674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11129848;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:132,0,183
chr1	11074100	rs2748876	T	G	479.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.213;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.317;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.42;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2748876;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|18/24|c.2083-92A>C||||||,G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|18/23|c.2082+131A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3816;p3_1000G_AF=0.761981;p3_1000G_AFR_AF=0.4977;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=15250;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.7694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11134157;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,18:34:99:508,0,445
chr1	11074413	rs368062216	A	ATT	112.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.016;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.579;SOR=0.412;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=ATT|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|17/24|c.1987-89_1987-88dupAA||||||,ATT|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|17/23|c.1987-89_1987-88dupAA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,4:10:99:0|1:11074413_A_ATT:150,0,278
chr1	11074437	rs12121163	G	C	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.888;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12121163;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|17/24|c.1987-111C>G||||||,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|17/23|c.1987-111C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=603;p3_1000G_AF=0.120407;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=16422;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11134494;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,5:11:99:0|1:11074413_A_ATT:189,0,347
chr1	11076758	rs72870088	T	C	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.7;ReadPosRankSum=0.049;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72870088;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|17/24|c.1986+84A>G||||||,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|17/23|c.1986+84A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=609;p3_1000G_AF=0.121605;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=21189;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11136815;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,6:21:99:148,0,395
chr1	11076781	rs17036297	A	G	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.547;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=-2.229;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17036297;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|17/24|c.1986+61T>C||||||,G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|17/23|c.1986+61T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=603;p3_1000G_AF=0.120407;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=21176;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11136838;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,12:31:99:291,0,502
chr1	11077237	rs3737619	C	T	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.405;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=6.16;MLEAC=1;MLEAF=0.5;MQ=59.71;MQRankSum=-0.714;QD=14.94;ReadPosRankSum=-0.152;SOR=0.074;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737619;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|16/24|c.1879+128G>A||||||,T|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|16/23|c.1879+128G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=604;p3_1000G_AF=0.120607;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=18408;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11137294;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:327,0,264
chr1	11077604	rs2273339	A	G	830.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=1.809;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-0.133;SOR=0.948;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273339;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|15/25|c.1797T>C|p.Ala599Ala|1876/2842|1797/2658|599/885||,G|synonymous_variant|LOW|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|15/24|c.1797T>C|p.Ala599Ala|1876/2767|1797/2583|599/860||;p3_1000G_AA=G|||;p3_1000G_AC=603;p3_1000G_AF=0.120407;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=17823;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11137661;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=606,3800;ESP6500_AA_AGE=770.2+/-413.7;ESP6500_AA_GTC=43,520,1640;ESP6500_CDS_SIZES=NM_002685.2:2583,NM_001001998.1:2658;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=201,8399;ESP6500_EA_AGE=810.5+/-407.1;ESP6500_EA_GTC=5,191,4104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002685.2:coding-synonymous,NM_001001998.1:coding-synonymous;ESP6500_GL=EXOSC10;ESP6500_GRCh38_POSITION=1:11077604;ESP6500_GTC=48,711,5744;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002685.2:c.1797T>C,NM_001001998.1:c.1797T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002685.2:p.(A599),NM_001001998.1:p.(A599);ESP6500_MAF=2.3372,13.754,6.2048;ESP6500_TAC=807,12199	GT:AD:DP:GQ:PL	0/1:50,35:85:99:859,0,1299
chr1	11079674	rs144662222	G	A	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.068;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.048;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.608;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144662222;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|14/24|c.1749+37C>T||||||,A|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|14/23|c.1749+37C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=536;p3_1000G_AF=0.107029;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=15857;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11139731;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=433,3973;ESP6500_AA_AGE=195.3+/-220.0;ESP6500_AA_GTC=23,387,1793;ESP6500_CDS_SIZES=NM_002685.2:2583,NM_001001998.1:2658;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=35;ESP6500_EA_AC=191,8407;ESP6500_EA_AGE=80.6+/-143.3;ESP6500_EA_GTC=3,185,4111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002685.2:intron,NM_001001998.1:intron;ESP6500_GL=EXOSC10;ESP6500_GRCh38_POSITION=1:11079674;ESP6500_GTC=26,572,5904;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002685.2:c.1749+37C>T,NM_001001998.1:c.1749+37C>T;ESP6500_MAF=2.2214,9.8275,4.7985;ESP6500_TAC=624,12380	GT:AD:DP:GQ:PL	0/1:12,10:22:99:249,0,383
chr1	11080553	rs773087507	GAA	G	448.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.766;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=1.31;SOR=0.646;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|splice_region_variant&intron_variant|LOW|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|12/24|c.1587-6_1587-5delTT||||||,G|splice_region_variant&intron_variant|LOW|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|12/23|c.1587-6_1587-5delTT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,13:22:99:0|1:11080553_GAA_G:486,0,757
chr1	11080594	rs747099101;~rs3835253	ACACACACACACG	A	140.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.994;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.168;SOR=0.252;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|12/24|c.1587-57_1587-46delCGTGTGTGTGTG||||||,A|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|12/23|c.1587-57_1587-46delCGTGTGTGTGTG||||||;ESP6500_AA_AC=1579,2687;ESP6500_AA_GTC=28,1523,582;ESP6500_CDS_SIZES=NM_002685.2:2583,NM_001001998.1:2658;ESP6500_CG=0.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=44;ESP6500_EA_AC=2754,5498;ESP6500_EA_GTC=5,2744,1377;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002685.2:intron,NM_001001998.1:intron;ESP6500_GL=EXOSC10;ESP6500_GRCh38_POSITION=1:11080594;ESP6500_GTC=33,4267,1959;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002685.2:c.1587-57_1587-46del12,NM_001001998.1:c.1587-57_1587-46del12;ESP6500_MAF=33.3737,37.0136,34.6142;ESP6500_TAC=4333,8185	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,7:15:99:0|1:11080553_GAA_G:178,0,864
chr1	11080973	rs2273338	G	C	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.027;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.545;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-0.381;SOR=0.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273338;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|11/24|c.1438-61C>G||||||,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|11/23|c.1438-61C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=603;p3_1000G_AF=0.120407;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=20152;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11141030;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,15:26:99:486,0,386
chr1	11081045	rs2273337	A	G	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.118;SOR=0.172;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273337;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|11/24|c.1437+37T>C||||||,G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|11/23|c.1437+37T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=603;p3_1000G_AF=0.120407;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=18275;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11141102;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=602,3804;ESP6500_AA_AGE=764.2+/-413.3;ESP6500_AA_GTC=42,518,1643;ESP6500_CDS_SIZES=NM_002685.2:2583,NM_001001998.1:2658;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=30;ESP6500_EA_AC=201,8399;ESP6500_EA_AGE=805.5+/-407.3;ESP6500_EA_GTC=5,191,4104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002685.2:intron,NM_001001998.1:intron;ESP6500_GL=EXOSC10;ESP6500_GRCh38_POSITION=1:11081045;ESP6500_GTC=47,709,5747;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002685.2:c.1437+37T>C,NM_001001998.1:c.1437+37T>C;ESP6500_MAF=2.3372,13.6632,6.1741;ESP6500_TAC=803,12203	GT:AD:DP:GQ:PL	0/1:16,17:33:99:494,0,452
chr1	11081130	rs2258621	C	G	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.293;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.946;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2258621;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|11/25|c.1389G>C|p.Pro463Pro|1468/2842|1389/2658|463/885||,G|synonymous_variant|LOW|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|11/24|c.1389G>C|p.Pro463Pro|1468/2767|1389/2583|463/860||;p3_1000G_AA=G|||;p3_1000G_AC=3868;p3_1000G_AF=0.772364;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=12080;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.7694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11141187;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2460,1946;ESP6500_AA_AGE=550.6+/-378.1;ESP6500_AA_GTC=671,1118,414;ESP6500_CDS_SIZES=NM_002685.2:2583,NM_001001998.1:2658;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=6548,2052;ESP6500_EA_AGE=356.3+/-330.2;ESP6500_EA_GTC=2498,1552,250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002685.2:coding-synonymous,NM_001001998.1:coding-synonymous;ESP6500_GL=EXOSC10;ESP6500_GRCh38_POSITION=1:11081130;ESP6500_GTC=3169,2670,664;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002685.2:c.1389G>C,NM_001001998.1:c.1389G>C;ESP6500_HGVS_PROTEIN_VAR=NM_002685.2:p.(P463),NM_001001998.1:p.(P463);ESP6500_MAF=23.8605,44.167,30.7397;ESP6500_TAC=9008,3998	GT:AD:DP:GQ:PL	0/1:30,23:53:99:535,0,842
chr1	11081349	rs72871405	T	C	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.425;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72871405;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|10/24|c.1281-111A>G||||||,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|10/23|c.1281-111A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=603;p3_1000G_AF=0.120407;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=22648;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11141406;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:271,0,256
chr1	11090625	rs3737621	C	T	604.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.276;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=2.182;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=1.09;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737621;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|6/25|c.687G>A|p.Glu229Glu|766/2842|687/2658|229/885||,T|synonymous_variant|LOW|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|6/24|c.687G>A|p.Glu229Glu|766/2767|687/2583|229/860||;p3_1000G_AA=C|||;p3_1000G_AC=563;p3_1000G_AF=0.11242;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=19085;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11150682;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=496,3910;ESP6500_AA_AGE=227.5+/-242.7;ESP6500_AA_GTC=26,444,1733;ESP6500_CDS_SIZES=NM_002685.2:2583,NM_001001998.1:2658;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=55;ESP6500_EA_AC=201,8399;ESP6500_EA_AGE=85.6+/-148.0;ESP6500_EA_GTC=5,191,4104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002685.2:coding-synonymous,NM_001001998.1:coding-synonymous;ESP6500_GL=EXOSC10;ESP6500_GRCh38_POSITION=1:11090625;ESP6500_GTC=31,635,5837;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002685.2:c.687G>A,NM_001001998.1:c.687G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002685.2:p.(E229),NM_001001998.1:p.(E229);ESP6500_MAF=2.3372,11.2574,5.3591;ESP6500_TAC=697,12309	GT:AD:DP:GQ:PL	0/1:31,27:58:99:633,0,770
chr1	11091257	rs2273336	T	C	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273336;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|4/24|c.478-78A>G||||||,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|4/23|c.478-78A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=603;p3_1000G_AF=0.120407;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=21360;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11151314;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:151,0,182
chr1	11091423	rs2273335	T	C	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-1.59;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273335;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|4/24|c.477+70A>G||||||,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|4/23|c.477+70A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=512;p3_1000G_AF=0.102236;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=20197;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11151480;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:292,0,149
chr1	11091722	rs1148482	A	G	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.126;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1148482;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|3/24|c.373-125T>C||||||,G|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|3/23|c.373-125T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4039;p3_1000G_AF=0.80651;p3_1000G_AFR_AF=0.6573;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=19183;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11151779;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:60:77,0,60
chr1	11095606	rs12129722	T	C	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.31;MQRankSum=0.674;QD=15.48;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12129722;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135061.1|pseudogene||n.-4069T>C|||||4069|,C|upstream_gene_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135062.1|pseudogene||n.-4069T>C|||||4069|,C|upstream_gene_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135063.1|pseudogene||n.-4413T>C|||||4413|,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|3/24|c.372+152A>G||||||,C|intron_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|3/23|c.372+152A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=603;p3_1000G_AF=0.120407;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=14204;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11155663;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:183,0,157
chr1	11099766	rs12133922	T	C	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.228;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=2.17;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12133922;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding|1/25|c.66A>G|p.Gly22Gly|145/2842|66/2658|22/885||,C|synonymous_variant|LOW|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding|1/24|c.66A>G|p.Gly22Gly|145/2767|66/2583|22/860||,C|upstream_gene_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135063.1|pseudogene||n.-253T>C|||||253|,C|non_coding_transcript_exon_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135061.1|pseudogene|1/2|n.92T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135062.1|pseudogene|1/2|n.92T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=563;p3_1000G_AF=0.11242;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=13359;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11159823;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=493,3913;ESP6500_AA_AGE=211.8+/-231.9;ESP6500_AA_GTC=27,439,1737;ESP6500_CDS_SIZES=NM_002685.2:2583,NM_001001998.1:2658;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=44;ESP6500_EA_AC=199,8401;ESP6500_EA_AGE=82.3+/-144.9;ESP6500_EA_GTC=5,189,4106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002685.2:coding-synonymous,NM_001001998.1:coding-synonymous;ESP6500_GL=EXOSC10;ESP6500_GRCh38_POSITION=1:11099766;ESP6500_GTC=32,628,5843;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002685.2:c.66A>G,NM_001001998.1:c.66A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002685.2:p.(G22),NM_001001998.1:p.(G22);ESP6500_MAF=2.314,11.1893,5.3206;ESP6500_TAC=692,12314	GT:AD:DP:GQ:PL	0/1:6,7:13:99:185,0,175
chr1	11099911	rs17552394	G	A	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.39;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.04;ReadPosRankSum=2.28;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17552394;dbSNPBuildID=123;ANN=A|splice_donor_variant&intron_variant|HIGH|LOC105376736|LOC105376736|transcript|NR_135061.1|pseudogene|1/1|n.236+1G>A||||||,A|upstream_gene_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding||c.-80C>T|||||1|,A|upstream_gene_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding||c.-80C>T|||||1|,A|upstream_gene_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135063.1|pseudogene||n.-108G>A|||||108|,A|intron_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135062.1|pseudogene|1/1|n.140+97G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=563;p3_1000G_AF=0.11242;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=12776;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11159968;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,14:20:99:0|1:11099911_G_A:509,0,225
chr1	11099932	rs17552387	T	C	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.848;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=32.15;ReadPosRankSum=-0.495;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17552387;dbSNPBuildID=123;ANN=C|upstream_gene_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_001001998.2|protein_coding||c.-101A>G|||||22|,C|upstream_gene_variant|MODIFIER|EXOSC10|EXOSC10|transcript|NM_002685.3|protein_coding||c.-101A>G|||||22|,C|upstream_gene_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135063.1|pseudogene||n.-87T>C|||||87|,C|intron_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135061.1|pseudogene|1/1|n.236+22T>C||||||,C|intron_variant|MODIFIER|LOC105376736|LOC105376736|transcript|NR_135062.1|pseudogene|1/1|n.140+118T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=868;p3_1000G_AF=0.173323;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=10821;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11159989;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,10:12:99:0|1:11099911_G_A:414,0,110
chr1	11121270	rs11121691;516652	C	T	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.27;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=7.941;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-1.157;SOR=1.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121691;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|MTOR|MTOR|transcript|NM_004958.3|protein_coding|49/58|c.6909G>A|p.Leu2303Leu|7030/8725|6909/7650|2303/2549||;p3_1000G_AA=C|||;p3_1000G_AC=1105;p3_1000G_AF=0.220647;p3_1000G_AFR_AF=0.4365;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=17412;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.2356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11181327;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1875,2531;ESP6500_AA_AGE=541.3+/-375.7;ESP6500_AA_GTC=383,1109,711;ESP6500_CDS_SIZES=NM_004958.3:7650;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=72;ESP6500_EA_AC=2054,6546;ESP6500_EA_AGE=356.9+/-330.5;ESP6500_EA_GTC=249,1556,2495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004958.3:coding-synonymous;ESP6500_GL=MTOR;ESP6500_GRCh38_POSITION=1:11121270;ESP6500_GTC=632,2665,3206;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004958.3:c.6909G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004958.3:p.(L2303);ESP6500_MAF=23.8837,42.5556,30.2091;ESP6500_TAC=3929,9077;CLINVAR_ALLELEID=497964;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.11121270C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MTOR:2475;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11121691	GT:AD:DP:GQ:PL	0/1:33,24:57:99:581,0,977
chr1	11127836	rs1770344	T	C	1188.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=1.418;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1770344;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|MTOR|MTOR|transcript|NM_004958.3|protein_coding|43/57|c.6034-30A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4958;p3_1000G_AF=0.990016;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20671;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11187893;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4341,65;ESP6500_AA_AGE=60.5+/-97.4;ESP6500_AA_GTC=2138,65,0;ESP6500_CDS_SIZES=NM_004958.3:7650;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=86;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004958.3:intron;ESP6500_GL=MTOR;ESP6500_GRCh38_POSITION=1:11127836;ESP6500_GTC=6435,68,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004958.3:c.6034-30A>G;ESP6500_MAF=0.0349,1.4753,0.5228;ESP6500_TAC=12938,68	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1217,102,0
chr1	11130589	rs2275527;380311	G	A	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.4;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.832;SOR=0.32;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275527;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|MTOR|MTOR|transcript|NM_004958.3|protein_coding|39/58|c.5553C>T|p.Ser1851Ser|5674/8725|5553/7650|1851/2549||;p3_1000G_AA=G|||;p3_1000G_AC=1145;p3_1000G_AF=0.228634;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=17004;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.2356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11190646;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1927,2479;ESP6500_AA_AGE=549.0+/-377.7;ESP6500_AA_GTC=407,1113,683;ESP6500_CDS_SIZES=NM_004958.3:7650;ESP6500_CG=-5.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=95;ESP6500_EA_AC=2052,6548;ESP6500_EA_AGE=356.5+/-330.3;ESP6500_EA_GTC=249,1554,2497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004958.3:coding-synonymous;ESP6500_GL=MTOR;ESP6500_GRCh38_POSITION=1:11130589;ESP6500_GTC=656,2667,3180;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004958.3:c.5553C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004958.3:p.(S1851);ESP6500_MAF=23.8605,43.7358,30.5936;ESP6500_TAC=3979,9027;CLINVAR_ALLELEID=364358;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.11130589G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MTOR:2475;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2275527	GT:AD:DP:GQ:PL	0/1:12,11:23:99:281,0,377
chr1	11145001	rs1057079;516654	C	T	754.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.322;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=2.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.421;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057079;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|MTOR|MTOR|transcript|NM_004958.3|protein_coding|33/58|c.4731G>A|p.Ala1577Ala|4852/8725|4731/7650|1577/2549||,T|intron_variant|MODIFIER|MTOR-AS1|MTOR-AS1|transcript|NR_046600.1|pseudogene|2/3|n.310+115C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2742;p3_1000G_AF=0.547524;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=19784;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.7356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11205058;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=779,3627;ESP6500_AA_AGE=314.7+/-293.7;ESP6500_AA_GTC=82,615,1506;ESP6500_CDS_SIZES=NM_004958.3:7650;ESP6500_CG=-5.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=115;ESP6500_EA_AC=6321,2279;ESP6500_EA_AGE=707.3+/-405.6;ESP6500_EA_GTC=2334,1653,313;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004958.3:coding-synonymous;ESP6500_GL=MTOR;ESP6500_GRCh38_POSITION=1:11145001;ESP6500_GTC=2416,2268,1819;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004958.3:c.4731G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004958.3:p.(A1577);ESP6500_MAF=26.5,17.6804,45.4098;ESP6500_TAC=7100,5906;CLINVAR_ALLELEID=497979;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.11145001C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MTOR:2475|MTOR-AS1:100873935;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1057079	GT:AD:DP:GQ:PL	0/1:33,32:65:99:783,0,787
chr1	11228561	rs4845985	G	A	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.821;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.59;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845985;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|MTOR|MTOR|transcript|NM_004958.3|protein_coding|19/57|c.3030+107C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3196;p3_1000G_AF=0.638179;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=23400;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.7237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11288618;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:196,0,339
chr1	11228576	rs4845986	G	C	329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.112;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=-0.973;SOR=1.942;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845986;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|MTOR|MTOR|transcript|NM_004958.3|protein_coding|19/57|c.3030+92C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3196;p3_1000G_AF=0.638179;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=23917;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.7237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11288633;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:358,0,292
chr1	11228701	rs1064261	G	A	904.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.002;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.125;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.327;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1064261;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|MTOR|MTOR|transcript|NM_004958.3|protein_coding|19/58|c.2997C>T|p.Asn999Asn|3118/8725|2997/7650|999/2549||;p3_1000G_AA=A|||;p3_1000G_AC=3508;p3_1000G_AF=0.700479;p3_1000G_AFR_AF=0.3351;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=22818;p3_1000G_EAS_AF=0.9187;p3_1000G_EUR_AF=0.7237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11288758;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1765,2641;ESP6500_AA_AGE=645.1+/-398.1;ESP6500_AA_GTC=346,1073,784;ESP6500_CDS_SIZES=NM_004958.3:7650;ESP6500_CG=-2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=95;ESP6500_EA_AC=6267,2333;ESP6500_EA_AGE=391.5+/-343.7;ESP6500_EA_GTC=2283,1701,316;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004958.3:coding-synonymous;ESP6500_GL=MTOR;ESP6500_GRCh38_POSITION=1:11228701;ESP6500_GTC=2629,2774,1100;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004958.3:c.2997C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004958.3:p.(N999);ESP6500_MAF=27.1279,40.059,38.2439;ESP6500_TAC=8032,4974	GT:AD:DP:GQ:PL	0/1:31,36:67:99:933,0,837
chr1	11241657	rs1135172;516653	A	G	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-0.614;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1135172;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|MTOR|MTOR|transcript|NM_004958.3|protein_coding|10/58|c.1437T>C|p.Asp479Asp|1558/8725|1437/7650|479/2549||;p3_1000G_AA=G|||;p3_1000G_AC=3203;p3_1000G_AF=0.639577;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=20388;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.7237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11301714;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1348,3058;ESP6500_AA_AGE=693.5+/-405.7;ESP6500_AA_GTC=201,946,1056;ESP6500_CDS_SIZES=NM_004958.3:7650;ESP6500_CG=-2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=98;ESP6500_EA_AC=6265,2335;ESP6500_EA_AGE=391.7+/-343.7;ESP6500_EA_GTC=2282,1701,317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004958.3:coding-synonymous;ESP6500_GL=MTOR;ESP6500_GRCh38_POSITION=1:11241657;ESP6500_GTC=2483,2647,1373;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004958.3:c.1437T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004958.3:p.(D479);ESP6500_MAF=27.1512,30.5946,41.4655;ESP6500_TAC=7613,5393;CLINVAR_ALLELEID=498006;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.11241657A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MTOR:2475;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1135172	GT:AD:DP:GQ:PL	0/1:31,18:49:99:383,0,703
chr1	11257263	rs2092642	C	T	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=-0.566;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2092642;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|MTOR|MTOR|transcript|NM_004958.3|protein_coding|3/57|c.272-98G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2709;p3_1000G_AF=0.540935;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=15823;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.6988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11317320;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:85:85,0,126
chr1	11258706	rs2076657	C	G	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.792;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076657;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|MTOR|MTOR|transcript|NM_004958.3|protein_coding|2/57|c.163-113G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2710;p3_1000G_AF=0.541134;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=19936;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11318763;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:107,0,154
chr1	11533736	rs113116961;rs9430193	T	TGCACACACGCAC	1014.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=0.99;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113116961;dbSNPBuildID=132;ANN=TGCACACACGCAC|intron_variant|MODIFIER|DISP3|DISP3|transcript|NM_020780.1|protein_coding|17/20|c.3376-637_3376-636insGCACGCACACAC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1942;p3_1000G_AF=0.38778;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=22295;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.3857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11593793;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,21:21:77:1052,77,0
chr1	11534343	rs2235663	T	C	1543.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=1.378;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2235663;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|DISP3|DISP3|transcript|NM_020780.1|protein_coding|17/20|c.3376-38T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3196;p3_1000G_AF=0.638179;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=17643;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.3469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11594400;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3585,641;ESP6500_AA_GTC=1551,483,79;ESP6500_CDS_SIZES=NM_020780.1:4179;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=80;ESP6500_EA_AC=3154,5308;ESP6500_EA_GTC=577,2000,1654;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020780.1:intron;ESP6500_GL=PTCHD2;ESP6500_GRCh38_POSITION=1:11534343;ESP6500_GTC=2128,2483,1733;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020780.1:c.3376-38T>C;ESP6500_MAF=37.2725,15.168,46.8868;ESP6500_TAC=6739,5949	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1572,141,0
chr1	11534981	rs2076467	A	G	606.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=2.531;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076467;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|DISP3|DISP3|transcript|NM_020780.1|protein_coding|18/20|c.3536-30A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=687;p3_1000G_AF=0.137181;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=19488;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11595038;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=113,4169;ESP6500_AA_GTC=1,111,2029;ESP6500_CDS_SIZES=NM_020780.1:4179;ESP6500_CG=1.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=23;ESP6500_EA_AC=1210,7244;ESP6500_EA_GTC=70,1070,3087;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020780.1:intron;ESP6500_GL=PTCHD2;ESP6500_GRCh38_POSITION=1:11534981;ESP6500_GTC=71,1181,5116;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020780.1:c.3536-30A>G;ESP6500_MAF=14.3128,2.639,10.3879;ESP6500_TAC=1323,11413	GT:AD:DP:GQ:PL	1/1:0,20:20:60:635,60,0
chr1	11535146	rs2235662	A	G	948.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2235662;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|DISP3|DISP3|transcript|NM_020780.1|protein_coding|19/20|c.3649+22A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=881;p3_1000G_AF=0.175919;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=18423;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.16;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11595203;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=537,3787;ESP6500_AA_GTC=30,477,1655;ESP6500_CDS_SIZES=NM_020780.1:4179;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=27;ESP6500_EA_AC=1083,7433;ESP6500_EA_GTC=66,951,3241;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020780.1:intron;ESP6500_GL=PTCHD2;ESP6500_GRCh38_POSITION=1:11535146;ESP6500_GTC=96,1428,4896;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020780.1:c.3649+22A>G;ESP6500_MAF=12.7172,12.4191,12.6168;ESP6500_TAC=1620,11220	GT:AD:DP:GQ:PL	1/1:0,30:30:90:977,90,0
chr1	11535236	rs2235661	A	G	414.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2235661;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|DISP3|DISP3|transcript|NM_020780.1|protein_coding|19/20|c.3649+112A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=866;p3_1000G_AF=0.172923;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=19777;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11595293;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:443,33,0
chr1	11536244	rs528815842	T	G	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.38;ReadPosRankSum=0;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|DISP3|DISP3|transcript|NM_020780.1|protein_coding|20/20|c.3817-80T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=38;p3_1000G_AF=0.00758786;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15473;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11596301;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:99:109,0,333
chr1	11648679	rs1055547	T	C	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-1.616;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1055547;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding|6/6|c.*15A>G|||||15|;p3_1000G_AA=T|||;p3_1000G_AC=2529;p3_1000G_AF=0.504992;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=14033;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.7783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11708736;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1742,2662;ESP6500_AA_GTC=355,1032,815;ESP6500_CDS_SIZES=NM_012168.5:891;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=26;ESP6500_EA_AC=6426,2168;ESP6500_EA_GTC=2400,1626,271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012168.5:utr-3;ESP6500_GL=FBXO2;ESP6500_GRCh38_POSITION=1:11648679;ESP6500_GTC=2755,2658,1086;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012168.5:c.*15A>G;ESP6500_MAF=25.2269,39.555,37.1596;ESP6500_TAC=8168,4830	GT:AD:DP:GQ:PL	0/1:4,7:11:89:217,0,89
chr1	11648930	rs75678560	C	A	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.307;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.59;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75678560;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding|5/5|c.757-102G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=142;p3_1000G_AF=0.0283546;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=10101;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11708987;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:218,0,178
chr1	11648995	rs4397658;rs538205502	C	G	441.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.99;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4397658;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding|5/5|c.756+92G>C||||||;p3_1000G_AC=2779;p3_1000G_AF=0.554912;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=7802;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11709052;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:48:470,48,0
chr1	11649707	rs2235658	G	T	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.13;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.191;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235658;dbSNPBuildID=98;ANN=T|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304791.1|protein_coding||c.-6129G>T|||||4668|,T|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183412.2|protein_coding||c.-6129G>T|||||4668|,T|intron_variant|MODIFIER|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding|4/5|c.617+72C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=467;p3_1000G_AF=0.0932508;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=12218;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11709764;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:180,0,258
chr1	11650504	rs9614	T	G	627.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.99;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=7.639;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.664;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9614;dbSNPBuildID=52;ANN=G|missense_variant|MODERATE|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding|2/6|c.353A>C|p.Lys118Thr|844/1715|353/891|118/296||,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001014765.1|protein_coding||c.-5332T>G|||||4353|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304791.1|protein_coding||c.-5332T>G|||||3871|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183412.2|protein_coding||c.-5332T>G|||||3871|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304790.1|protein_coding||c.-5332T>G|||||4353|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_033182.5|protein_coding||c.-5332T>G|||||4353|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183413.2|protein_coding||c.-5332T>G|||||4353|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NR_130909.1|pseudogene||n.-4353T>G|||||4353|;p3_1000G_AA=T|||;p3_1000G_AC=1220;p3_1000G_AF=0.24361;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=14310;p3_1000G_EAS_AF=0.4494;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11710561;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=730,3668;ESP6500_AA_GTC=53,624,1522;ESP6500_CDS_SIZES=NM_012168.5:891;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=23;ESP6500_EA_AC=1653,6943;ESP6500_EA_GTC=160,1333,2805;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012168.5:missense;ESP6500_GL=FBXO2;ESP6500_GRCh38_POSITION=1:11650504;ESP6500_GS=78;ESP6500_GTC=213,1957,4327;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_012168.5:c.353A>C;ESP6500_HGVS_PROTEIN_VAR=NM_012168.5:p.(K118T);ESP6500_MAF=19.2299,16.5985,18.3392;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=2383,10611	GT:AD:DP:GQ:PL	0/1:33,25:58:99:656,0,750
chr1	11654311	rs2272983	T	G	409.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272983;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding|1/5|c.22+8A>C||||||,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001014765.1|protein_coding||c.-1525T>G|||||546|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304791.1|protein_coding||c.-1525T>G|||||64|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183412.2|protein_coding||c.-1525T>G|||||64|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304790.1|protein_coding||c.-1525T>G|||||546|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_033182.5|protein_coding||c.-1525T>G|||||546|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183413.2|protein_coding||c.-1525T>G|||||546|,G|upstream_gene_variant|MODIFIER|FBXO44|FBXO44|transcript|NR_130909.1|pseudogene||n.-546T>G|||||546|;p3_1000G_AA=G|||;p3_1000G_AC=4002;p3_1000G_AF=0.799121;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=8945;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.7972;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11714368;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7536;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2395,525;ESP6500_AA_GTC=1009,377,74;ESP6500_CDS_SIZES=NM_012168.5:891;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=4;ESP6500_EA_AC=4364,1020;ESP6500_EA_GTC=1784,796,112;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012168.5:intron;ESP6500_GL=FBXO2;ESP6500_GRCh38_POSITION=1:11654311;ESP6500_GTC=2793,1173,186;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_012168.5:c.22+8A>C;ESP6500_MAF=18.945,17.9795,18.6055;ESP6500_TAC=6759,1545	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:11654311_T_G:438,33,0
chr1	11658686	.	G	C	52.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.573;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=14.88;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=-0.406;SOR=3.231;SNP;HET;VARTYPE=SNP;ANN=C|upstream_gene_variant|MODIFIER|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding||c.-4346C>G|||||3855|,C|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001014765.1|protein_coding|5/6|c.489-50G>C||||||,C|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304791.1|protein_coding|4/5|c.489-50G>C||||||,C|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183412.2|protein_coding|3/4|c.364-50G>C||||||,C|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304790.1|protein_coding|4/5|c.364-50G>C||||||,C|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_033182.5|protein_coding|4/5|c.489-50G>C||||||,C|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183413.2|protein_coding|3/4|c.364-50G>C||||||,C|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NR_130909.1|pseudogene|3/4|n.356-50G>C||||||	GT:AD:DP:GQ:PL	0/1:15,4:19:81:81,0,679
chr1	11658690	.	T	A	30.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.768;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=15.849;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=-0.864;SOR=3.229;SNP;HET;VARTYPE=SNP;ANN=A|upstream_gene_variant|MODIFIER|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding||c.-4350A>T|||||3859|,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001014765.1|protein_coding|5/6|c.489-46T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304791.1|protein_coding|4/5|c.489-46T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183412.2|protein_coding|3/4|c.364-46T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304790.1|protein_coding|4/5|c.364-46T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_033182.5|protein_coding|4/5|c.489-46T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183413.2|protein_coding|3/4|c.364-46T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NR_130909.1|pseudogene|3/4|n.356-46T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,4:20:59:0|1:11658690_T_A:59,0,917
chr1	11658699	.	T	A	17.84	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.233;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=12.381;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=-0.967;SOR=2.788;SNP;HET;VARTYPE=SNP;ANN=A|upstream_gene_variant|MODIFIER|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding||c.-4359A>T|||||3868|,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001014765.1|protein_coding|5/6|c.489-37T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304791.1|protein_coding|4/5|c.489-37T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183412.2|protein_coding|3/4|c.364-37T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304790.1|protein_coding|4/5|c.364-37T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_033182.5|protein_coding|4/5|c.489-37T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183413.2|protein_coding|3/4|c.364-37T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NR_130909.1|pseudogene|3/4|n.356-37T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,3:19:46:0|1:11658690_T_A:46,0,988
chr1	11658701	.	T	A	14.91	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.058;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=8.316;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=-0.069;SOR=2.229;SNP;HET;VARTYPE=SNP;ANN=A|upstream_gene_variant|MODIFIER|FBXO2|FBXO2|transcript|NM_012168.5|protein_coding||c.-4361A>T|||||3870|,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001014765.1|protein_coding|5/6|c.489-35T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304791.1|protein_coding|4/5|c.489-35T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183412.2|protein_coding|3/4|c.364-35T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_001304790.1|protein_coding|4/5|c.364-35T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_033182.5|protein_coding|4/5|c.489-35T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NM_183413.2|protein_coding|3/4|c.364-35T>A||||||,A|intron_variant|MODIFIER|FBXO44|FBXO44|transcript|NR_130909.1|pseudogene|3/4|n.356-35T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,2:20:43:0|1:11658690_T_A:43,0,995
chr1	11668837	rs3125818	G	A	508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.868;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.418;MLEAC=1;MLEAF=0.5;MQ=58.94;MQRankSum=0.315;QD=9.98;ReadPosRankSum=1.63;SOR=1.043;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3125818;dbSNPBuildID=103;ANN=A|missense_variant|MODERATE|FBXO6|FBXO6|transcript|NM_018438.5|protein_coding|2/6|c.179G>A|p.Arg60Gln|345/1549|179/882|60/293||;p3_1000G_AA=.|||;p3_1000G_AC=683;p3_1000G_AF=0.136382;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=19109;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.1173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11728894;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=361,4045;ESP6500_AA_AGE=187.1+/-213.8;ESP6500_AA_GTC=10,341,1852;ESP6500_CDS_SIZES=NM_018438.5:882;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=63;ESP6500_EA_AC=975,7625;ESP6500_EA_AGE=212.5+/-252.8;ESP6500_EA_GTC=53,869,3378;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018438.5:missense;ESP6500_GL=FBXO6;ESP6500_GRCh38_POSITION=1:11668837;ESP6500_GS=43;ESP6500_GTC=63,1210,5230;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018438.5:c.179G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018438.5:p.(R60Q);ESP6500_MAF=11.3372,8.1934,10.2722;ESP6500_PH=benign:0.357;ESP6500_TAC=1336,11670	GT:AD:DP:GQ:PL	0/1:29,22:51:99:537,0,813
chr1	11671870	rs3215521;rs796905125	AG	A	121.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.917;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-0.683;SOR=0.586;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3215521;dbSNPBuildID=106,146;ANN=A|downstream_gene_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_001127325.1|protein_coding||c.*2904delC|||||2609|,A|downstream_gene_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_006341.3|protein_coding||c.*2904delC|||||2609|,A|intron_variant|MODIFIER|FBXO6|FBXO6|transcript|NM_018438.5|protein_coding|3/5|c.414-49delG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,7:17:99:159,0,239
chr1	11675188	rs878778	A	C	341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.35;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.09;SOR=0.763;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs878778;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|FBXO6|FBXO6|transcript|NM_018438.5|protein_coding||c.*1337A>C|||||836|,C|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_001127325.1|protein_coding|7/8|c.502-14T>G||||||,C|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_006341.3|protein_coding|7/8|c.502-14T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=749;p3_1000G_AF=0.149561;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=16657;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11735245;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=52,4352;ESP6500_AA_AGE=47.5+/-82.1;ESP6500_AA_GTC=1,50,2151;ESP6500_CDS_SIZES=NM_006341.3:636,NM_001127325.1:636;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=41;ESP6500_EA_AC=387,8213;ESP6500_EA_AGE=115.5+/-175.4;ESP6500_EA_GTC=11,365,3924;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006341.3:intron,NM_001127325.1:intron;ESP6500_GL=MAD2L2;ESP6500_GRCh38_POSITION=1:11675188;ESP6500_GTC=12,415,6075;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_006341.3:c.502-14T>G,NM_001127325.1:c.502-14T>G;ESP6500_MAF=4.5,1.1807,3.3759;ESP6500_TAC=439,12565	GT:AD:DP:GQ:PL	0/1:17,15:32:99:370,0,414
chr1	11675205	rs2233027	C	T	402.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.653;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.586;SOR=0.538;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2233027;dbSNPBuildID=98;ANN=T|downstream_gene_variant|MODIFIER|FBXO6|FBXO6|transcript|NM_018438.5|protein_coding||c.*1354C>T|||||853|,T|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_001127325.1|protein_coding|7/8|c.502-31G>A||||||,T|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_006341.3|protein_coding|7/8|c.502-31G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=761;p3_1000G_AF=0.151957;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=16208;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.1899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11735262;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=341,4061;ESP6500_AA_AGE=174.1+/-203.8;ESP6500_AA_GTC=16,309,1876;ESP6500_CDS_SIZES=NM_006341.3:636,NM_001127325.1:636;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=32;ESP6500_EA_AC=1682,6918;ESP6500_EA_AGE=302.4+/-305.9;ESP6500_EA_GTC=164,1354,2782;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006341.3:intron,NM_001127325.1:intron;ESP6500_GL=MAD2L2;ESP6500_GRCh38_POSITION=1:11675205;ESP6500_GTC=180,1663,4658;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006341.3:c.502-31G>A,NM_001127325.1:c.502-31G>A;ESP6500_MAF=19.5581,7.7465,15.5591;ESP6500_TAC=2023,10979	GT:AD:DP:GQ:PL	0/1:14,18:32:99:431,0,322
chr1	11675784	rs2233024	C	A	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.662;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.142;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2233024;dbSNPBuildID=98;ANN=A|downstream_gene_variant|MODIFIER|FBXO6|FBXO6|transcript|NM_018438.5|protein_coding||c.*1933C>A|||||1432|,A|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_001127325.1|protein_coding|6/8|c.428-53G>T||||||,A|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_006341.3|protein_coding|6/8|c.428-53G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=761;p3_1000G_AF=0.151957;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=18320;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.1899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11735841;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=115,1269;ESP6500_AA_GTC=8,99,585;ESP6500_CDS_SIZES=NM_006341.3:636,NM_001127325.1:636;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=23;ESP6500_EA_AC=636,2544;ESP6500_EA_GTC=71,494,1025;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006341.3:intron,NM_001127325.1:intron;ESP6500_GL=MAD2L2;ESP6500_GRCh38_POSITION=1:11675784;ESP6500_GTC=79,593,1610;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_006341.3:c.428-53G>T,NM_001127325.1:c.428-53G>T;ESP6500_MAF=20.0,8.3092,16.4549;ESP6500_TAC=751,3813	GT:AD:DP:GQ:PL	0/1:19,15:34:99:418,0,553
chr1	11676994	rs2294638	G	C	607.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.99;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=13.742;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.792;SOR=3.56;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294638;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|FBXO6|FBXO6|transcript|NM_018438.5|protein_coding||c.*3143G>C|||||2642|,C|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_001127325.1|protein_coding|4/8|c.232-46C>G||||||,C|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_006341.3|protein_coding|4/8|c.232-46C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3140;p3_1000G_AF=0.626997;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=14291;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11737051;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5787;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3747,657;ESP6500_AA_AGE=251.5+/-258.2;ESP6500_AA_GTC=1605,537,60;ESP6500_CDS_SIZES=NM_006341.3:636,NM_001127325.1:636;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=4303,4297;ESP6500_EA_AGE=543.0+/-384.3;ESP6500_EA_GTC=1092,2119,1089;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006341.3:intron,NM_001127325.1:intron;ESP6500_GL=MAD2L2;ESP6500_GRCh38_POSITION=1:11676994;ESP6500_GTC=2697,2656,1149;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_006341.3:c.232-46C>G,NM_001127325.1:c.232-46C>G;ESP6500_MAF=49.9651,14.9183,38.096;ESP6500_TAC=8050,4954	GT:AD:DP:GQ:PL	0/1:19,19:38:99:636,0,392
chr1	11680272	rs151210857;rs78169379	AGGCGTGAGCCAC	A	274.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.499;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=59.59;MQRankSum=-0.674;QD=17.17;ReadPosRankSum=0.288;SOR=0.027;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs151210857,rs78169379;dbSNPBuildID=134,131;ANN=A|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_001127325.1|protein_coding|3/8|c.159+69_159+80delGTGGCTCACGCC||||||,A|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_006341.3|protein_coding|3/8|c.159+69_159+80delGTGGCTCACGCC||||||;p3_1000G_AC=1472;p3_1000G_AF=0.29393;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=14908;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.3767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11740329;p3_1000G_GRCH37_REF=AGGCGTGAGCCAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,8:16:99:312,0,312
chr1	11680301	rs7417320	A	G	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.06;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=14.537;MLEAC=1;MLEAF=0.5;MQ=59.77;MQRankSum=1.1;QD=16.79;ReadPosRankSum=0.59;SOR=3.556;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7417320;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_001127325.1|protein_coding|3/8|c.159+52T>C||||||,G|intron_variant|MODIFIER|MAD2L2|MAD2L2|transcript|NM_006341.3|protein_coding|3/8|c.159+52T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2186;p3_1000G_AF=0.436502;p3_1000G_AFR_AF=0.4039;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=14017;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.4026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11740358;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=736,1016;ESP6500_AA_GTC=158,420,298;ESP6500_CDS_SIZES=NM_006341.3:636,NM_001127325.1:636;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=1654,2328;ESP6500_EA_GTC=342,970,679;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006341.3:intron,NM_001127325.1:intron;ESP6500_GL=MAD2L2;ESP6500_GRCh38_POSITION=1:11680301;ESP6500_GTC=500,1390,977;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006341.3:c.159+52T>C,NM_001127325.1:c.159+52T>C;ESP6500_MAF=41.5369,42.0091,41.6812;ESP6500_TAC=2390,3344	GT:AD:DP:GQ:PL	0/1:14,15:29:99:515,0,277
chr1	11706832	rs12132907	A	G	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.987;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12132907;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|DRAXIN|DRAXIN|transcript|NM_198545.3|protein_coding|2/6|c.451+123A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3155;p3_1000G_AF=0.629992;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=15483;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.6272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11766889;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:218,0,139
chr1	11712246	rs1883574	A	G	548.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.1;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.755;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1883574;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|DRAXIN|DRAXIN|transcript|NM_198545.3|protein_coding|4/6|c.758-94A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4253;p3_1000G_AF=0.849241;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=21989;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.7366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11772303;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,18:36:99:577,0,572
chr1	11712469	rs1883573	A	G	683.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.494;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1883573;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|DRAXIN|DRAXIN|transcript|NM_198545.3|protein_coding|5/6|c.847+40A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2810;p3_1000G_AF=0.561102;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=19571;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11772526;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2622,1784;ESP6500_AA_AGE=523.3+/-371.0;ESP6500_AA_GTC=781,1060,362;ESP6500_CDS_SIZES=NM_198545.3:1050;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=42;ESP6500_EA_AC=3877,4723;ESP6500_EA_AGE=604.4+/-394.8;ESP6500_EA_GTC=879,2119,1302;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198545.3:intron;ESP6500_GL=DRAXIN;ESP6500_GRCh38_POSITION=1:11712469;ESP6500_GTC=1660,3179,1664;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198545.3:c.847+40A>G;ESP6500_MAF=45.0814,40.4902,49.9692;ESP6500_TAC=6499,6507	GT:AD:DP:GQ:PL	0/1:15,23:38:99:712,0,436
chr1	11747369	rs12752700	C	T	652.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12752700;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_020350.4|protein_coding|2/4|c.63-71C>T||||||,T|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_001040194.1|protein_coding|2/4|c.63-71C>T||||||,T|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_001040195.1|protein_coding|1/3|c.28-71C>T||||||,T|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_001040196.1|protein_coding|3/5|c.160-71C>T||||||,T|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_001040197.1|protein_coding|3/5|c.160-71C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2784;p3_1000G_AF=0.555911;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=18099;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11807426;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:681,63,0
chr1	11748649	rs11121819	T	G	585.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.4;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.291;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=1.91;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121819;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_020350.4|protein_coding|4/4|c.364+39T>G||||||,G|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_001040194.1|protein_coding|4/4|c.343+60T>G||||||,G|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_001040195.1|protein_coding|3/3|c.308+60T>G||||||,G|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_001040196.1|protein_coding|5/5|c.440+60T>G||||||,G|intron_variant|MODIFIER|AGTRAP|AGTRAP|transcript|NM_001040197.1|protein_coding|5/5|c.*17+39T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1996;p3_1000G_AF=0.398562;p3_1000G_AFR_AF=0.3185;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=17051;p3_1000G_EAS_AF=0.5883;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11808706;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1456,2942;ESP6500_AA_GTC=246,964,989;ESP6500_CDS_SIZES=NM_020350.4:480,NM_001040197.1:444,NM_001040196.1:468,NM_001040195.1:336,NM_001040194.1:459;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=17;ESP6500_EA_AC=2976,5612;ESP6500_EA_GTC=512,1952,1830;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020350.4:intron,NM_001040197.1:intron,NM_001040196.1:intron,NM_001040195.1:intron,NM_001040194.1:intron;ESP6500_GL=AGTRAP;ESP6500_GRCh38_POSITION=1:11748649;ESP6500_GTC=758,2916,2819;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_020350.4:c.364+39T>G,NM_001040197.1:c.*56T>G,NM_001040196.1:c.440+60T>G,NM_001040195.1:c.308+60T>G,NM_001040194.1:c.343+60T>G;ESP6500_MAF=34.653,33.106,34.1291;ESP6500_TAC=4432,8554	GT:AD:DP:GQ:PL	0/1:15,17:32:99:614,0,445
chr1	11764246	rs4845877	T	C	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.895;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=5.756;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.121;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845877;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|1/20|c.-70-85T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=2963;p3_1000G_AF=0.591653;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=17491;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11824303;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:178,0,209
chr1	11764289	rs4845878	G	A	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.687;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=1.54;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845878;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|1/20|c.-70-42G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=2917;p3_1000G_AF=0.582468;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=17120;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.6531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11824346;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,9:22:99:249,0,379
chr1	11764499	rs4845879	A	G	555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.067;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.681;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=-0.26;SOR=0.238;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845879;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|2/20|c.70+29A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=2987;p3_1000G_AF=0.596446;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=17614;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11824556;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,21:31:99:584,0,244
chr1	11764518	rs10864536	T	C	653.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.12;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=4.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.54;ReadPosRankSum=-0.352;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864536;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|2/20|c.70+48T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3794;p3_1000G_AF=0.757588;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=16821;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11824575;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6656;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,19:29:99:0|1:11764518_T_C:682,0,465
chr1	11764521	rs11121825	C	T	624.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.076;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=4.386;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=-0.342;SOR=0.129;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121825;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|2/20|c.70+51C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2984;p3_1000G_AF=0.595847;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.7867;p3_1000G_AN=5008;p3_1000G_DP=16600;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11824578;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,18:28:99:0|1:11764518_T_C:653,0,468
chr1	11764564	rs11121826	T	C	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.99;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.27;ReadPosRankSum=-1.198;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121826;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|2/20|c.70+94T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3168;p3_1000G_AF=0.632588;p3_1000G_AFR_AF=0.5923;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=16250;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.659;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11824621;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,9:14:99:312,0,115
chr1	11765794	rs10218813	G	C	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.658;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.115;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.38;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10218813;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|2/20|c.71-63G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3262;p3_1000G_AF=0.651358;p3_1000G_AFR_AF=0.6067;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=15109;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.6988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11825851;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:180,0,228
chr1	11766573	rs6668699	C	T	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.201;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.625;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.316;SOR=1.545;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6668699;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|3/21|c.787C>T|p.Pro263Ser|970/4672|787/4350|263/1449||;p3_1000G_AA=C|||;p3_1000G_AC=3153;p3_1000G_AF=0.629593;p3_1000G_AFR_AF=0.5431;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=14515;p3_1000G_EAS_AF=0.7302;p3_1000G_EUR_AF=0.6958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11826630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,15:49:99:445,0,992
chr1	11767123	rs6540995	A	G	795.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6540995;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|3/20|c.1299+38A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4848;p3_1000G_AF=0.968051;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=11720;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11827180;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:11767107_A_T:824,78,0
chr1	11767247	rs6540996	A	G	861.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6540996;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|4/21|c.1326A>G|p.Pro442Pro|1509/4672|1326/4350|442/1449||;p3_1000G_AA=g|||;p3_1000G_AC=4848;p3_1000G_AF=0.968051;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=13200;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11827304;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:890,84,0
chr1	11767298	rs6540997	A	G	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.268;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.476;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6540997;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|4/20|c.1343+34A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3170;p3_1000G_AF=0.632987;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=11960;p3_1000G_EAS_AF=0.7302;p3_1000G_EUR_AF=0.6988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11827355;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:250,0,240
chr1	11768181	rs4845880	G	A	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.364;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=1.34;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845880;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|5/21|c.1448G>A|p.Arg483Gln|1631/4672|1448/4350|483/1449||;p3_1000G_AA=G|||;p3_1000G_AC=3058;p3_1000G_AF=0.610623;p3_1000G_AFR_AF=0.4735;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=15991;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.6948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11828238;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,22:30:99:548,0,138
chr1	11768262	rs4845881	G	A	565.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.424;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=8.269;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=0.584;SOR=1.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845881;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|5/21|c.1529G>A|p.Arg510Gln|1712/4672|1529/4350|510/1449||;p3_1000G_AA=G|||;p3_1000G_AC=3064;p3_1000G_AF=0.611821;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=17485;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.6948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11828319;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,22:33:99:594,0,240
chr1	11771558	rs6667720	C	T	628.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.341;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.107;SOR=0.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6667720;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|7/21|c.1732C>T|p.Arg578Trp|1915/4672|1732/4350|578/1449||;p3_1000G_AA=T|||;p3_1000G_AC=3487;p3_1000G_AF=0.696286;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=15180;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.7237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11831615;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6391;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,27:46:99:657,0,470
chr1	11771699	rs6680385	A	G	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.52;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.38;ReadPosRankSum=0.732;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6680385;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|7/20|c.1810+63A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3496;p3_1000G_AF=0.698083;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=18054;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.7286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11831756;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:359,0,210
chr1	11772043	rs11121827	T	A	566.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.074;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.305;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=2.1;SOR=0.434;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11121827;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|7/20|c.1811-39T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2848;p3_1000G_AF=0.56869;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=19872;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.6272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11832100;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,24:53:99:595,0,801
chr1	11772232	rs61773952	C	A	619.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.862;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.987;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.704;SOR=0.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61773952;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|8/21|c.1961C>A|p.Pro654His|2144/4672|1961/4350|654/1449||,A|downstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.*4845G>T|||||4845|;p3_1000G_AA=C|||;p3_1000G_AC=611;p3_1000G_AF=0.122005;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=20376;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.1799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11832289;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,23:39:99:648,0,456
chr1	11772254	rs10779764	G	C	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=8.248;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.374;SOR=2.235;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10779764;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|8/21|c.1983G>C|p.Leu661Leu|2166/4672|1983/4350|661/1449||,C|downstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.*4823C>G|||||4823|;p3_1000G_AA=G|||;p3_1000G_AC=2847;p3_1000G_AF=0.56849;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=20298;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.6272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11832311;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,14:37:99:445,0,721
chr1	11776384	rs6699669	T	C	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.74;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6699669;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.*693A>G|||||693|,C|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|9/20|c.2165-80T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4673;p3_1000G_AF=0.933107;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=15542;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11836441;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:11776384_T_C:405,27,0
chr1	11776385	rs6659541	G	A	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.231;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6659541;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.*692C>T|||||692|,A|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|9/20|c.2165-79G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2854;p3_1000G_AF=0.569888;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=15573;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11836442;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:11776384_T_C:153,0,198
chr1	11776393	rs12132479	A	G	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.164;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.43;ReadPosRankSum=-0.875;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12132479;dbSNPBuildID=120;ANN=G|downstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.*684T>C|||||684|,G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|9/20|c.2165-71A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=613;p3_1000G_AF=0.122404;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=15133;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.1809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11836450;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,7:11:99:0|1:11776384_T_C:264,0,147
chr1	11776571	rs6699881	T	C	311.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-0.651;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6699881;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|10/21|c.2272T>C|p.Trp758Arg|2455/4672|2272/4350|758/1449||,C|downstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.*506A>G|||||506|;p3_1000G_AA=C|||;p3_1000G_AC=3506;p3_1000G_AF=0.70008;p3_1000G_AFR_AF=0.5174;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=16001;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.7286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11836628;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:340,0,210
chr1	11776625	rs7538516	C	T	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.988;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=1.02;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7538516;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|10/21|c.2326C>T|p.Arg776Cys|2509/4672|2326/4350|776/1449||,T|downstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.*452G>A|||||452|;p3_1000G_AA=C|||;p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=17157;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11836682;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:89:286,0,89
chr1	11778589	rs12134663	A	C	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.428;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12134663;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|10/20|c.2340-71A>C||||||,C|intron_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene|2/2|n.660+56T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=606;p3_1000G_AF=0.121006;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=15168;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11838646;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:165,0,239
chr1	11778791	rs6697244	G	T	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.313;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.539;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6697244;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|11/21|c.2471G>T|p.Ser824Ile|2654/4672|2471/4350|824/1449||,T|non_coding_transcript_exon_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene|2/3|n.514C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2858;p3_1000G_AF=0.570687;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=14977;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11838848;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,14:30:99:338,0,423
chr1	11779909	rs4846043	G	A	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.225;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.792;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4846043;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|13/21|c.2759G>A|p.Arg920His|2942/4672|2759/4350|920/1449||,A|upstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.-290C>T|||||290|;p3_1000G_AA=G|||;p3_1000G_AC=2854;p3_1000G_AF=0.569888;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=16352;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11839966;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:229,0,228
chr1	11779915	rs41275462	G	A	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.323;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=0.632;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41275462;dbSNPBuildID=127;ANN=A|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|13/21|c.2765G>A|p.Arg922Gln|2948/4672|2765/4350|922/1449||,A|upstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.-296C>T|||||296|;p3_1000G_AA=G|||;p3_1000G_AC=677;p3_1000G_AF=0.135184;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=15975;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.1809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11839972;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:155,0,351
chr1	11779941	rs4846044	T	C	495.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4846044;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|13/21|c.2791T>C|p.Trp931Arg|2974/4672|2791/4350|931/1449||,C|upstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.-322A>G|||||322|;p3_1000G_AA=C|||;p3_1000G_AC=4406;p3_1000G_AF=0.879792;p3_1000G_AFR_AF=0.6029;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=12418;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11839998;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:524,45,0
chr1	11782087	rs10864542	C	G	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.903;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.728;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864542;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.-2468G>C|||||2468|,G|downstream_gene_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding||c.*8593G>C|||||3643|,G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|13/20|c.2861-102C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2853;p3_1000G_AF=0.569688;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=13505;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11842144;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:98:199,0,98
chr1	11784157	rs12135232	A	T	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.791;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-1.087;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12135232;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.-4538T>A|||||4538|,T|downstream_gene_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding||c.*6523T>A|||||1573|,T|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|14/20|c.3006-17A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=615;p3_1000G_AF=0.122804;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=18783;p3_1000G_EAS_AF=0.1022;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11844214;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:322,0,328
chr1	11784273	rs10864543	C	T	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.141;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864543;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|15/21|c.3105C>T|p.Ala1035Ala|3288/4672|3105/4350|1035/1449||,T|upstream_gene_variant|MODIFIER|LOC102724659|LOC102724659|transcript|NR_126000.1|pseudogene||n.-4654G>A|||||4654|,T|downstream_gene_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding||c.*6407G>A|||||1457|;p3_1000G_AA=C|||;p3_1000G_AC=2494;p3_1000G_AF=0.498003;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=18045;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.6173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11844330;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,16:35:99:388,0,408
chr1	11784770	rs4845883	A	G	179.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.19;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845883;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding||c.*5910T>C|||||960|,G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|15/20|c.3425+177A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=4675;p3_1000G_AF=0.933506;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=17809;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11844827;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:208,15,0
chr1	11785056	rs11587953	G	A	301.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.43;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11587953;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding||c.*5624C>T|||||674|,A|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|15/20|c.3426-92G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4675;p3_1000G_AF=0.933506;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=15779;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11845113;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:330,33,0
chr1	11785112	rs11586659	T	G	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.14;ReadPosRankSum=1.69;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11586659;dbSNPBuildID=120;ANN=G|downstream_gene_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding||c.*5568A>C|||||618|,G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|15/20|c.3426-36T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3279;p3_1000G_AF=0.654752;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=14856;p3_1000G_EAS_AF=0.881;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11845169;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:84:277,0,84
chr1	11787277	rs35134728;rs70983598;292171	G	GGAA	553.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.463;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.946;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.78;ReadPosRankSum=-1.084;SOR=1.356;INS;HET;VARTYPE=INS;dbSNP138_ID=rs70983598,rs35134728;dbSNPBuildID=126,138;ANN=GGAA|3_prime_UTR_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding|12/12|c.*3400_*3402dupTTC|||||3402|,GGAA|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|16/20|c.3568-108_3568-106dupAGA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2855;p3_1000G_AF=0.570088;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=17441;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11847334;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=276604;CLINVAR_CLNDISDB=MedGen:C1866558,OMIM:601634;CLINVAR_CLNDN=Neural_tube_defects,_folate-sensitive;CLINVAR_CLNHGVS=NC_000001.11:g.11787278_11787280dupGAA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:495550;CLINVAR_GENEINFO=MTHFR:4524|C1orf167:284498;CLINVAR_ORIGIN=1;CLINVAR_RS=113394969	GT:AD:DP:GQ:PL	0/1:13,15:28:99:591,0,602
chr1	11787702	rs3737966;292181	C	T	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.379;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.79;ReadPosRankSum=-0.411;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737966;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding|12/12|c.*2978G>A|||||2978|,T|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|17/20|c.3674-171C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2797;p3_1000G_AF=0.558506;p3_1000G_AFR_AF=0.354;p3_1000G_AMR_AF=0.7421;p3_1000G_AN=5008;p3_1000G_DP=19402;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11847759;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4141;p3_1000G_VT=SNP;CLINVAR_ALLELEID=276668;CLINVAR_CLNDISDB=MedGen:C1866558,OMIM:601634;CLINVAR_CLNDN=Neural_tube_defects,_folate-sensitive;CLINVAR_CLNHGVS=NC_000001.11:g.11787702C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:246;CLINVAR_GENEINFO=MTHFR:4524|C1orf167:284498;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3737966	GT:AD:DP:GQ:PL	0/1:11,19:30:99:592,0,314
chr1	11788082	rs11559040;292191	G	A	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.879;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.638;SOR=0.738;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11559040;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding|12/12|c.*2598C>T|||||2598|,A|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|18/20|c.3848+35G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=635;p3_1000G_AF=0.126797;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=21332;p3_1000G_EAS_AF=0.1022;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11848139;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.23678;CLINVAR_AF_TGP=0.1268;CLINVAR_ALLELEID=276111;CLINVAR_CLNDISDB=MedGen:C1866558,OMIM:601634;CLINVAR_CLNDN=Neural_tube_defects,_folate-sensitive;CLINVAR_CLNHGVS=NC_000001.11:g.11788082G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:260;CLINVAR_GENEINFO=MTHFR:4524|C1orf167:284498;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11559040	GT:AD:DP:GQ:PL	0/1:19,15:34:99:384,0,535
chr1	11788822	rs2077360;292203	A	G	220.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.06;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2077360;dbSNPBuildID=96;ANN=G|3_prime_UTR_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding|12/12|c.*1858T>C|||||1858|,G|intron_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|20/20|c.4173+76A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4660;p3_1000G_AF=0.930511;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=16710;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11848879;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;CLINVAR_ALLELEID=276650;CLINVAR_CLNDISDB=MedGen:C1866558,OMIM:601634;CLINVAR_CLNDN=Neural_tube_defects,_folate-sensitive;CLINVAR_CLNHGVS=NC_000001.11:g.11788822A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:278;CLINVAR_GENEINFO=MTHFR:4524|C1orf167:284498;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2077360	GT:AD:DP:GQ:PL	1/1:0,6:6:18:249,18,0
chr1	11789390	rs868014;292209	A	G	923.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs868014;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding|21/21|c.4294A>G|p.Arg1432Gly|4477/4672|4294/4350|1432/1449||,G|3_prime_UTR_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding|12/12|c.*1290T>C|||||1290|;p3_1000G_AA=G|||;p3_1000G_AC=4672;p3_1000G_AF=0.932907;p3_1000G_AFR_AF=0.7595;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=14108;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11849447;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;CLINVAR_ALLELEID=276356;CLINVAR_CLNDISDB=MedGen:C1866558,OMIM:601634;CLINVAR_CLNDN=Neural_tube_defects,_folate-sensitive;CLINVAR_CLNHGVS=NC_000001.11:g.11789390A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:291;CLINVAR_GENEINFO=MTHFR:4524|C1orf167:284498;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=868014	GT:AD:DP:GQ:PL	1/1:0,31:31:93:952,93,0
chr1	11794400	rs4846051;167306	G	A	2102.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.21;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4846051;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding|8/12|c.1305C>T|p.Phe435Phe|1534/7150|1305/1971|435/656||,A|downstream_gene_variant|MODIFIER|C1orf167|C1orf167|transcript|NM_001010881.1|protein_coding||c.*4954G>A|||||4815|;p3_1000G_AA=A|||;p3_1000G_AC=4522;p3_1000G_AF=0.902955;p3_1000G_AFR_AF=0.6558;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=21393;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11854457;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3008,1398;ESP6500_AA_AGE=458.0+/-351.8;ESP6500_AA_GTC=1033,942,228;ESP6500_CDS_SIZES=NM_005957.4:1971;ESP6500_CG=-0.2;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=102;ESP6500_EA_AC=8574,26;ESP6500_EA_AGE=17.3+/-56.4;ESP6500_EA_GTC=4274,26,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005957.4:coding-synonymous;ESP6500_GL=MTHFR;ESP6500_GRCh38_POSITION=1:11794400;ESP6500_GTC=5307,968,228;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005957.4:c.1305C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005957.4:p.(F435);ESP6500_MAF=0.3023,31.7295,10.9488;ESP6500_TAC=11582,1424;CLINVAR_ALLELEID=177842;CLINVAR_CLNDISDB=MedGen:C1866558,OMIM:601634|MedGen:CN169374;CLINVAR_CLNDN=Neural_tube_defects,_folate-sensitive|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.11794400G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:325;CLINVAR_GENEINFO=MTHFR:4524;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4846051	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2131,216,0
chr1	11794698	rs1994798	G	A	1711.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1994798;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding|7/11|c.1166+31C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2901;p3_1000G_AF=0.579273;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=20866;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.5964;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11854755;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1915,2491;ESP6500_AA_AGE=546.4+/-377.0;ESP6500_AA_GTC=422,1071,710;ESP6500_CDS_SIZES=NM_005957.4:1971;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=160;ESP6500_EA_AC=5053,3547;ESP6500_EA_AGE=628.9+/-398.2;ESP6500_EA_GTC=1486,2081,733;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005957.4:intron;ESP6500_GL=MTHFR;ESP6500_GRCh38_POSITION=1:11794698;ESP6500_GTC=1908,3152,1443;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005957.4:c.1166+31C>T;ESP6500_MAF=41.2442,43.4635,46.4247;ESP6500_TAC=6968,6038	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1740,165,0
chr1	11806987	rs3737964	T	C	187.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.83;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737964;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|MTHFR|MTHFR|transcript|NM_005957.4|protein_coding||c.-3871A>G|||||884|,C|intron_variant|MODIFIER|CLCN6|CLCN6|transcript|NM_001286.3|protein_coding|1/22|c.88-144T>C||||||,C|intron_variant|MODIFIER|CLCN6|CLCN6|transcript|NM_001256959.1|protein_coding|1/21|c.88-144T>C||||||,C|intron_variant|MODIFIER|CLCN6|CLCN6|transcript|NR_046428.1|pseudogene|1/22|n.255-144T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3849;p3_1000G_AF=0.76857;p3_1000G_AFR_AF=0.7231;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=19714;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.7386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11867044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:216,21,0
chr1	11824498	rs198400	A	G	1276.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.02;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs198400;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|CLCN6|CLCN6|transcript|NM_001286.3|protein_coding|8/23|c.593A>G|p.Glu198Gly|760/5698|593/2610|198/869||,G|missense_variant|MODERATE|CLCN6|CLCN6|transcript|NM_001256959.1|protein_coding|7/22|c.527A>G|p.Glu176Gly|694/5632|527/2544|176/847||,G|sequence_feature|LOW|CLCN6|CLCN6|short-sequence-motif:Selectivity_filter_part_2|NM_001286.3|protein_coding|8/23|c.593A>G||||||,G|sequence_feature|LOW|CLCN6|CLCN6|short-sequence-motif:Selectivity_filter_part_2|NM_001256959.1|protein_coding|7/22|c.527A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CLCN6|CLCN6|transcript|NR_046428.1|pseudogene|8/23|n.760A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18662;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11884555;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4404,2;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=2201,2,0;ESP6500_CDS_SIZES=NM_001286.3:2610,NM_001256959.1:2544;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=67;ESP6500_EA_AC=8591,9;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=4291,9,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001286.3:missense,NM_001256959.1:missense;ESP6500_GL=CLCN6;ESP6500_GRCh38_POSITION=1:11824498;ESP6500_GS=98,98;ESP6500_GTC=6492,11,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001286.3:c.593A>G,NM_001256959.1:c.527A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001286.3:p.(E198G),NM_001256959.1:p.(E176G);ESP6500_MAF=0.1047,0.0454,0.0846;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=12995,11	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1305,132,0
chr1	11827316	rs55749208	T	TG	2510.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=1.367;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs374218595,rs55749208;dbSNPBuildID=135;ANN=TG|intron_variant|MODIFIER|CLCN6|CLCN6|transcript|NM_001286.3|protein_coding|10/22|c.840+101dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|CLCN6|CLCN6|transcript|NM_001256959.1|protein_coding|9/21|c.774+101dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|CLCN6|CLCN6|transcript|NR_046428.1|pseudogene|10/22|n.991+101dupG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2548,246,0
chr1	11838337	rs531440933	C	T	885.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.177;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.882;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|splice_region_variant&synonymous_variant|LOW|CLCN6|CLCN6|transcript|NM_001286.3|protein_coding|21/23|c.2298C>T|p.Ser766Ser|2465/5698|2298/2610|766/869||,T|splice_region_variant&synonymous_variant|LOW|CLCN6|CLCN6|transcript|NM_001256959.1|protein_coding|20/22|c.2232C>T|p.Ser744Ser|2399/5632|2232/2544|744/847||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|CLCN6|CLCN6|transcript|NR_046428.1|pseudogene|21/23|n.2449C>T||||||,T|upstream_gene_variant|MODIFIER|NPPA-AS1|NPPA-AS1|transcript|NR_037806.1|pseudogene||n.-1982C>T|||||1982|;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16793;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11898394;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,33:64:99:914,0,994
chr1	11922487	rs2639453	T	C	946.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=4.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2639453;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KIAA2013|KIAA2013|transcript|NM_138346.2|protein_coding|2/2|c.1887+149A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4111;p3_1000G_AF=0.820887;p3_1000G_AFR_AF=0.9372;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=16717;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.7803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11982544;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:975,69,0
chr1	11923149	rs3795408	A	G	1813.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.47;QD=31.82;SOR=0.96;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795408;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|KIAA2013|KIAA2013|transcript|NM_138346.2|protein_coding|2/3|c.1374T>C|p.Phe458Phe|1565/2823|1374/1905|458/634||;p3_1000G_AA=G|||;p3_1000G_AC=3382;p3_1000G_AF=0.675319;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=19110;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.5537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11983206;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3262,1106;ESP6500_AA_GTC=1314,634,236;ESP6500_CDS_SIZES=NM_138346.2:1905;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=25;ESP6500_EA_AC=4410,4152;ESP6500_EA_GTC=1343,1724,1214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138346.2:coding-synonymous;ESP6500_GL=KIAA2013;ESP6500_GRCh38_POSITION=1:11923149;ESP6500_GTC=2657,2358,1450;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138346.2:c.1374T>C;ESP6500_HGVS_PROTEIN_VAR=NM_138346.2:p.(F458);ESP6500_MAF=48.4933,25.3205,40.6651;ESP6500_TAC=7672,5258	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1842,171,0
chr1	11944422	rs112065997	TACACAC	T	403.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=20.29;SOR=3.442;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs112065997;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|1/19|c.77-73_77-68delACACAC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|1/18|c.77-3527_77-3522delACACAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,5:5:99:441,240,237
chr1	11944422	.	TACACAC	TACACACACACACACAC	403.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=20.29;SOR=3.442;INS;HET;VARTYPE=INS;ANN=TACACACACACACACAC|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|1/19|c.77-77_77-68dupACACACACAC||||||INFO_REALIGN_3_PRIME,TACACACACACACACAC|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|1/18|c.77-3531_77-3522dupACACACACAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,6:6:99:441,204,186
chr1	11949677	rs58469200	C	T	210.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.534;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.35;ReadPosRankSum=-0.319;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58469200;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|3/19|c.310-96C>T||||||,T|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|2/18|c.169-96C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=596;p3_1000G_AF=0.11901;p3_1000G_AFR_AF=0.1997;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=17197;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12009734;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,7:8:19:239,0,19
chr1	11949898	rs7529452;255803	C	T	618.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.609;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=7.068;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.987;SOR=0.757;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7529452;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|4/20|c.435C>T|p.Phe145Phe|548/3172|435/2325|145/774||,T|synonymous_variant|LOW|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|3/19|c.294C>T|p.Phe98Phe|407/3031|294/2184|98/727||;p3_1000G_AA=C|||;p3_1000G_AC=1341;p3_1000G_AF=0.267772;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=17922;p3_1000G_EAS_AF=0.3631;p3_1000G_EUR_AF=0.3052;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12009955;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=300,4106;ESP6500_AA_AGE=164.0+/-195.7;ESP6500_AA_GTC=12,276,1915;ESP6500_CDS_SIZES=NM_000302.3:2184;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=123;ESP6500_EA_AC=2682,5918;ESP6500_EA_AGE=431.2+/-356.7;ESP6500_EA_GTC=419,1844,2037;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000302.3:coding-synonymous;ESP6500_GL=PLOD1;ESP6500_GRCh38_POSITION=1:11949898;ESP6500_GTC=431,2120,3952;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000302.3:c.294C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000302.3:p.(F98);ESP6500_MAF=31.186,6.8089,22.9279;ESP6500_TAC=2982,10024;CLINVAR_AF_ESP=0.2293;CLINVAR_AF_EXAC=0.32813;CLINVAR_AF_TGP=0.2678;CLINVAR_ALLELEID=249371;CLINVAR_CLNDISDB=MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED_CT:25606004|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Ehlers-Danlos_syndrome,_hydroxylysine-deficient|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.11949898C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:348;CLINVAR_GENEINFO=PLOD1:5351;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7529452	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,28:59:99:0|1:11949898_C_T:647,0,1218
chr1	11949899	rs7551175;196247	G	A	759.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.691;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=7.068;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.02;SOR=1.082;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7551175;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|4/20|c.436G>A|p.Ala146Thr|549/3172|436/2325|146/774||,A|missense_variant|MODERATE|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|3/19|c.295G>A|p.Ala99Thr|408/3031|295/2184|99/727||;p3_1000G_AA=A|||;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.5749;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=17892;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.1461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12009956;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2372;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2356,2050;ESP6500_AA_AGE=568.0+/-382.3;ESP6500_AA_GTC=639,1078,486;ESP6500_CDS_SIZES=NM_000302.3:2184;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=121;ESP6500_EA_AC=1293,7307;ESP6500_EA_AGE=758.8+/-407.5;ESP6500_EA_GTC=99,1095,3106;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000302.3:missense;ESP6500_GL=PLOD1;ESP6500_GRCh38_POSITION=1:11949899;ESP6500_GS=58;ESP6500_GTC=738,2173,3592;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000302.3:c.295G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000302.3:p.(A99T);ESP6500_MAF=15.0349,46.5275,28.0563;ESP6500_PH=benign:0.0;ESP6500_TAC=3649,9357;CLINVAR_AF_ESP=0.2806;CLINVAR_AF_EXAC=0.19344;CLINVAR_AF_TGP=0.2995;CLINVAR_ALLELEID=193408;CLINVAR_CLNDISDB=MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED_CT:25606004|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Ehlers-Danlos_syndrome,_hydroxylysine-deficient|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.11949899G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:1969|Illumina_Clinical_Services_Laboratory,Illumina:419|UniProtKB_(protein):Q02809#VAR_014220;CLINVAR_GENEINFO=PLOD1:5351;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7551175	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,31:59:99:1|0:11949898_C_T:788,0,1061
chr1	11949989	rs41278622	G	A	414.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.675;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.588;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41278622;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|4/19|c.443+83G>A||||||,A|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|3/18|c.302+83G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=379;p3_1000G_AF=0.0756789;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=18213;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12010046;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,16:29:99:443,0,370
chr1	11950412	rs2273285;255804	G	T	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.11;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.329;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=1.09;SOR=0.535;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273285;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|5/20|c.499G>T|p.Ala167Ser|612/3172|499/2325|167/774||,T|missense_variant|MODERATE|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|4/19|c.358G>T|p.Ala120Ser|471/3031|358/2184|120/727||;p3_1000G_AA=G|||;p3_1000G_AC=725;p3_1000G_AF=0.144768;p3_1000G_AFR_AF=0.298;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=17991;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12010469;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1261,3145;ESP6500_AA_AGE=431.2+/-342.8;ESP6500_AA_GTC=184,893,1126;ESP6500_CDS_SIZES=NM_000302.3:2184;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=719,7881;ESP6500_EA_AGE=175.8+/-225.7;ESP6500_EA_GTC=32,655,3613;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000302.3:missense;ESP6500_GL=PLOD1;ESP6500_GRCh38_POSITION=1:11950412;ESP6500_GS=99;ESP6500_GTC=216,1548,4739;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000302.3:c.358G>T;ESP6500_HGVS_PROTEIN_VAR=NM_000302.3:p.(A120S);ESP6500_MAF=8.3605,28.6201,15.2237;ESP6500_PH=probably-damaging:0.965;ESP6500_TAC=1980,11026;CLINVAR_AF_ESP=0.1522;CLINVAR_AF_EXAC=0.09191;CLINVAR_AF_TGP=0.1448;CLINVAR_ALLELEID=249372;CLINVAR_CLNDISDB=MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED_CT:25606004|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Ehlers-Danlos_syndrome,_hydroxylysine-deficient|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.11950412G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:4351|Illumina_Clinical_Services_Laboratory,Illumina:446|UniProtKB_(protein):Q02809#VAR_032756;CLINVAR_GENEINFO=PLOD1:5351;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2273285	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,11:36:99:1|0:11950406_C_T:284,0,749
chr1	11963543	rs574781992	G	T	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.912;SOR=1.218;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|missense_variant|MODERATE|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|12/20|c.1250G>T|p.Arg417Leu|1363/3172|1250/2325|417/774||,T|missense_variant|MODERATE|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|11/19|c.1109G>T|p.Arg370Leu|1222/3031|1109/2184|370/727||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20080;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12023600;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,17:34:99:445,0,387
chr1	11964178	rs1130529;255799	C	T	498.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.872;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.698;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1130529;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|13/20|c.1347C>T|p.Asn449Asn|1460/3172|1347/2325|449/774||,T|synonymous_variant|LOW|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|12/19|c.1206C>T|p.Asn402Asn|1319/3031|1206/2184|402/727||;p3_1000G_AA=C|||;p3_1000G_AC=1745;p3_1000G_AF=0.348442;p3_1000G_AFR_AF=0.2693;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=15315;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.3151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12024235;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1281,3125;ESP6500_AA_AGE=435.9+/-344.5;ESP6500_AA_GTC=182,917,1104;ESP6500_CDS_SIZES=NM_000302.3:2184;ESP6500_CG=-5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=146;ESP6500_EA_AC=2761,5839;ESP6500_EA_AGE=439.9+/-359.4;ESP6500_EA_GTC=458,1845,1997;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000302.3:coding-synonymous;ESP6500_GL=PLOD1;ESP6500_GRCh38_POSITION=1:11964178;ESP6500_GTC=640,2762,3101;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000302.3:c.1206C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000302.3:p.(N402);ESP6500_MAF=32.1047,29.074,31.078;ESP6500_TAC=4042,8964;CLINVAR_AF_ESP=0.3108;CLINVAR_AF_EXAC=0.36306;CLINVAR_AF_TGP=0.3484;CLINVAR_ALLELEID=249373;CLINVAR_CLNDISDB=MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED_CT:25606004|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Ehlers-Danlos_syndrome,_hydroxylysine-deficient|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.11964178C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:358;CLINVAR_GENEINFO=PLOD1:5351;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1130529	GT:AD:DP:GQ:PL	0/1:20,22:42:99:527,0,522
chr1	11964550	rs7529028	T	A	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.515;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=-0.431;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7529028;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|13/19|c.1470-94T>A||||||,A|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|12/18|c.1329-94T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=673;p3_1000G_AF=0.134385;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=12404;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.0795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12024607;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:89:188,0,89
chr1	11964866	rs7529312	T	C	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.637;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.803;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7529312;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|14/19|c.1611+81T>C||||||,C|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|13/18|c.1470+81T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=929;p3_1000G_AF=0.185503;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=13028;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12024923;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:91:163,0,91
chr1	11966298	rs2230898;255802	A	C	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=-0.109;SOR=0.826;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230898;dbSNPBuildID=102;ANN=C|synonymous_variant|LOW|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|16/20|c.1773A>C|p.Ala591Ala|1886/3172|1773/2325|591/774||,C|synonymous_variant|LOW|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|15/19|c.1632A>C|p.Ala544Ala|1745/3031|1632/2184|544/727||;p3_1000G_AA=A|||;p3_1000G_AC=323;p3_1000G_AF=0.0644968;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=14168;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12026355;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=71,4335;ESP6500_AA_AGE=59.9+/-96.7;ESP6500_AA_GTC=1,69,2133;ESP6500_CDS_SIZES=NM_000302.3:2184;ESP6500_CG=-1.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=82;ESP6500_EA_AC=719,7879;ESP6500_EA_AGE=163.2+/-215.8;ESP6500_EA_GTC=33,653,3613;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000302.3:coding-synonymous;ESP6500_GL=PLOD1;ESP6500_GRCh38_POSITION=1:11966298;ESP6500_GTC=34,722,5746;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_000302.3:c.1632A>C;ESP6500_HGVS_PROTEIN_VAR=NM_000302.3:p.(A544);ESP6500_MAF=8.3624,1.6114,6.0751;ESP6500_TAC=790,12214;CLINVAR_AF_ESP=0.0608;CLINVAR_AF_EXAC=0.08154;CLINVAR_AF_TGP=0.0645;CLINVAR_ALLELEID=249376;CLINVAR_CLNDISDB=MedGen:C0268342,OMIM:225400,Orphanet:ORPHA1900,SNOMED_CT:25606004|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Ehlers-Danlos_syndrome,_hydroxylysine-deficient|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.11966298A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:466;CLINVAR_GENEINFO=PLOD1:5351;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2230898	GT:AD:DP:GQ:PL	0/1:14,20:34:99:581,0,333
chr1	11967147	rs2273293	C	T	520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273293;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|17/19|c.1896+56C>T||||||,T|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|16/18|c.1755+56C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2824;p3_1000G_AF=0.563898;p3_1000G_AFR_AF=0.5923;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=17572;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12027204;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:549,48,0
chr1	11973056	rs3737961	A	G	697.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.13;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737961;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|19/19|c.2169+59A>G||||||,G|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|18/18|c.2028+59A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3254;p3_1000G_AF=0.64976;p3_1000G_AFR_AF=0.826;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=16947;p3_1000G_EAS_AF=0.6875;p3_1000G_EUR_AF=0.4652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12033113;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:11973056_A_G:726,51,0
chr1	11973063	rs3820190	G	C	596.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820190;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_001316320.1|protein_coding|19/19|c.2169+66G>C||||||,C|intron_variant|MODIFIER|PLOD1|PLOD1|transcript|NM_000302.3|protein_coding|18/18|c.2028+66G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3302;p3_1000G_AF=0.659345;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=16544;p3_1000G_EAS_AF=0.6875;p3_1000G_EUR_AF=0.4652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12033120;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:42:1|1:11973056_A_G:625,42,0
chr1	11996383	rs2236056	C	T	731.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236056;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|MFN2|MFN2|transcript|NM_001127660.1|protein_coding|4/17|c.474+65C>T||||||,T|intron_variant|MODIFIER|MFN2|MFN2|transcript|NM_014874.3|protein_coding|5/18|c.474+65C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3273;p3_1000G_AF=0.653554;p3_1000G_AFR_AF=0.6936;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=20164;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.6581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12056440;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:760,66,0
chr1	12002143	.	G	T	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.778;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.263;SOR=0.883;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|MFN2|MFN2|transcript|NM_001127660.1|protein_coding|10/17|c.1160+40G>T||||||,T|intron_variant|MODIFIER|MFN2|MFN2|transcript|NM_014874.3|protein_coding|11/18|c.1160+40G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,11:28:99:0|1:12002143_G_T:271,0,528
chr1	12002148	rs2236057	A	G	1078.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236057;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|MFN2|MFN2|transcript|NM_001127660.1|protein_coding|10/17|c.1160+45A>G||||||,G|intron_variant|MODIFIER|MFN2|MFN2|transcript|NM_014874.3|protein_coding|11/18|c.1160+45A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3295;p3_1000G_AF=0.657947;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=18878;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.673;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12062205;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2855,1551;ESP6500_AA_AGE=456.5+/-351.3;ESP6500_AA_GTC=940,975,288;ESP6500_CDS_SIZES=NM_014874.3:2274,NM_001127660.1:2274;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=33;ESP6500_EA_AC=5602,2998;ESP6500_EA_AGE=432.4+/-357.1;ESP6500_EA_GTC=1812,1978,510;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014874.3:intron,NM_001127660.1:intron;ESP6500_GL=MFN2;ESP6500_GRCh38_POSITION=1:12002148;ESP6500_GTC=2752,2953,798;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014874.3:c.1160+45A>G,NM_001127660.1:c.1160+45A>G;ESP6500_MAF=34.8605,35.202,34.9762;ESP6500_TAC=8457,4549	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:84:1|1:12002143_G_T:1107,84,0
chr1	12006987	rs7550536	T	G	1499.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=1.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7550536;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MFN2|MFN2|transcript|NM_001127660.1|protein_coding|15/17|c.1873-66T>G||||||,G|intron_variant|MODIFIER|MFN2|MFN2|transcript|NM_014874.3|protein_coding|16/18|c.1873-66T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2638;p3_1000G_AF=0.526757;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=17675;p3_1000G_EAS_AF=0.5456;p3_1000G_EUR_AF=0.6074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12067044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1528,129,0
chr1	12011623	rs1042842;292381	A	G	1067.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1042842;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|MFN2|MFN2|transcript|NM_001127660.1|protein_coding|18/18|c.*58A>G|||||58|,G|3_prime_UTR_variant|MODIFIER|MFN2|MFN2|transcript|NM_014874.3|protein_coding|19/19|c.*58A>G|||||58|;p3_1000G_AA=G|||;p3_1000G_AC=3668;p3_1000G_AF=0.732428;p3_1000G_AFR_AF=0.8903;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=17072;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12071680;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1152,232;ESP6500_AA_GTC=474,204,14;ESP6500_CDS_SIZES=NM_014874.3:2274,NM_001127660.1:2274;ESP6500_CG=-9.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=57;ESP6500_EA_AC=2086,1096;ESP6500_EA_GTC=687,712,192;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014874.3:utr-3,NM_001127660.1:utr-3;ESP6500_GL=MFN2;ESP6500_GRCh38_POSITION=1:12011623;ESP6500_GTC=1161,916,206;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014874.3:c.*58A>G,NM_001127660.1:c.*58A>G;ESP6500_MAF=34.4437,16.763,29.0845;ESP6500_TAC=3238,1328;CLINVAR_ALLELEID=276238;CLINVAR_CLNDISDB=MedGen:C0027888,Orphanet:ORPHA140450|MedGen:C0270914,Orphanet:ORPHA64746;CLINVAR_CLNDN=Hereditary_motor_and_sensory_neuropathy|Charcot-Marie-Tooth_disease,_type_2;CLINVAR_CLNHGVS=NC_000001.11:g.12011623A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:379;CLINVAR_GENEINFO=MFN2:9927;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1042842	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1096,102,0
chr1	12022127	.	A	G	1197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.141;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=2.725;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.528;SOR=0.667;SNP;HET;VARTYPE=SNP;ANN=G|synonymous_variant|LOW|MIIP|MIIP|transcript|NM_021933.3|protein_coding|3/10|c.147A>G|p.Ser49Ser|540/1801|147/1167|49/388||	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1226,0,1079
chr1	12022277	rs11553925	A	T	1151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.673;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=1.673;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.349;SOR=0.909;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11553925;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|MIIP|MIIP|transcript|NM_021933.3|protein_coding|3/10|c.297A>T|p.Lys99Asn|690/1801|297/1167|99/388||;p3_1000G_AA=A|||;p3_1000G_AC=812;p3_1000G_AF=0.162141;p3_1000G_AFR_AF=0.1762;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=18127;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12082334;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=744,3662;ESP6500_AA_AGE=280.2+/-275.2;ESP6500_AA_GTC=61,622,1520;ESP6500_CDS_SIZES=NM_021933.3:1167;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=48;ESP6500_EA_AC=2149,6443;ESP6500_EA_AGE=336.4+/-321.9;ESP6500_EA_GTC=276,1597,2423;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021933.3:missense;ESP6500_GL=MIIP;ESP6500_GRCh38_POSITION=1:12022277;ESP6500_GS=94;ESP6500_GTC=337,2219,3943;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_021933.3:c.297A>T;ESP6500_HGVS_PROTEIN_VAR=NM_021933.3:p.(K99N);ESP6500_MAF=25.0116,16.8861,22.2573;ESP6500_PH=possibly-damaging:0.952;ESP6500_TAC=2893,10105	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1180,0,1144
chr1	12022404	rs11588712	C	T	804.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.61;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-0.519;SOR=0.601;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11588712;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|MIIP|MIIP|transcript|NM_021933.3|protein_coding|3/10|c.424C>T|p.Pro142Ser|817/1801|424/1167|142/388||;p3_1000G_AA=C|||;p3_1000G_AC=419;p3_1000G_AF=0.0836661;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=19449;p3_1000G_EAS_AF=0.0675;p3_1000G_EUR_AF=0.159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12082461;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=202,4200;ESP6500_AA_GTC=5,192,2004;ESP6500_CDS_SIZES=NM_021933.3:1167;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=23;ESP6500_EA_AC=1295,7301;ESP6500_EA_GTC=102,1091,3105;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021933.3:missense;ESP6500_GL=MIIP;ESP6500_GRCh38_POSITION=1:12022404;ESP6500_GS=74;ESP6500_GTC=107,1283,5109;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021933.3:c.424C>T;ESP6500_HGVS_PROTEIN_VAR=NM_021933.3:p.(P142S);ESP6500_MAF=15.0651,4.5888,11.5172;ESP6500_PH=possibly-damaging:0.493;ESP6500_TAC=1497,11501	GT:AD:DP:GQ:PL	0/1:23,28:51:99:833,0,646
chr1	12022824	rs11588779	C	T	709.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.514;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.12;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11588779;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MIIP|MIIP|transcript|NM_021933.3|protein_coding|3/9|c.463-9C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=813;p3_1000G_AF=0.16234;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=19487;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12082881;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=758,3648;ESP6500_AA_GTC=62,634,1507;ESP6500_CDS_SIZES=NM_021933.3:1167;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=50;ESP6500_EA_AC=2151,6449;ESP6500_EA_GTC=274,1603,2423;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021933.3:intron;ESP6500_GL=MIIP;ESP6500_GRCh38_POSITION=1:12022824;ESP6500_GTC=336,2237,3930;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021933.3:c.463-9C>T;ESP6500_MAF=25.0116,17.2038,22.3666;ESP6500_TAC=2909,10097	GT:AD:DP:GQ:PL	0/1:24,30:54:99:738,0,612
chr1	12022869	rs2295283	A	G	1185.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2295283;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|MIIP|MIIP|transcript|NM_021933.3|protein_coding|4/10|c.499A>G|p.Lys167Glu|892/1801|499/1167|167/388||;p3_1000G_AA=G|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=18996;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.7276;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12082926;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3459,947;ESP6500_AA_AGE=350.5+/-310.9;ESP6500_AA_GTC=1363,733,107;ESP6500_CDS_SIZES=NM_021933.3:1167;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=6143,2457;ESP6500_EA_AGE=391.0+/-343.5;ESP6500_EA_GTC=2166,1811,323;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021933.3:missense;ESP6500_GL=MIIP;ESP6500_GRCh38_POSITION=1:12022869;ESP6500_GS=56;ESP6500_GTC=3529,2544,430;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021933.3:c.499A>G;ESP6500_HGVS_PROTEIN_VAR=NM_021933.3:p.(K167E);ESP6500_MAF=28.5698,21.4934,26.1725;ESP6500_PH=benign:0.0;ESP6500_TAC=9602,3404	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1214,108,0
chr1	12029944	rs4514248	T	C	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.414;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.464;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4514248;dbSNPBuildID=111;ANN=C|downstream_gene_variant|MODIFIER|MIR6729|MIR6729|transcript|NR_106787.1|pseudogene||n.*722T>C|||||722|,C|intron_variant|MODIFIER|MIIP|MIIP|transcript|NM_021933.3|protein_coding|7/9|c.845+50T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=963;p3_1000G_AF=0.192292;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=15803;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12090001;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1084,3320;ESP6500_AA_GTC=125,834,1243;ESP6500_CDS_SIZES=NM_021933.3:1167;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=22;ESP6500_EA_AC=2161,6437;ESP6500_EA_GTC=280,1601,2418;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021933.3:intron;ESP6500_GL=MIIP;ESP6500_GRCh38_POSITION=1:12029944;ESP6500_GTC=405,2435,3661;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021933.3:c.845+50T>C;ESP6500_MAF=25.1338,24.614,24.9577;ESP6500_TAC=3245,9757	GT:AD:DP:GQ:PL	0/1:20,13:33:99:341,0,473
chr1	12031153	rs946461	T	C	438.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs946461;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|MIR6729|MIR6729|transcript|NR_106787.1|pseudogene||n.*1931T>C|||||1931|,C|intron_variant|MODIFIER|MIIP|MIIP|transcript|NM_021933.3|protein_coding|8/9|c.943-113T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3545;p3_1000G_AF=0.707867;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=17868;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12091210;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:467,39,0
chr1	12138240	rs476488	T	C	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.964;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=1.39;SOR=0.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs476488;dbSNPBuildID=83;ANN=C|sequence_feature|MODERATE|TNFRSF8|TNFRSF8|modified-residue:phosphoserine|NM_001243.4|protein_coding|14/15|c.1347T>C||||||,C|sequence_feature|MODERATE|TNFRSF8|TNFRSF8|modified-residue:phosphoserine|NM_001281430.2|protein_coding|13/14|c.1011T>C||||||,C|synonymous_variant|LOW|TNFRSF8|TNFRSF8|transcript|NM_001243.4|protein_coding|14/15|c.1347T>C|p.Ser449Ser|1569/3686|1347/1788|449/595||,C|synonymous_variant|LOW|TNFRSF8|TNFRSF8|transcript|NM_001281430.2|protein_coding|13/14|c.1011T>C|p.Ser337Ser|1478/3595|1011/1452|337/483||;p3_1000G_AA=T|||;p3_1000G_AC=1460;p3_1000G_AF=0.291534;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=14226;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.1292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12198297;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1939,2449;ESP6500_AA_GTC=436,1067,691;ESP6500_CDS_SIZES=NM_152942.2:399,NM_001243.3:1788;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=34;ESP6500_EA_AC=1166,7424;ESP6500_EA_GTC=89,988,3218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152942.2:utr-5,NM_001243.3:coding-synonymous;ESP6500_GL=TNFRSF8;ESP6500_GRCh38_POSITION=1:12138240;ESP6500_GTC=525,2055,3909;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152942.2:c.-43T>C,NM_001243.3:c.1347T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001243.3:p.(S449);ESP6500_MAF=13.5739,44.1887,23.9251;ESP6500_TAC=3105,9873	GT:AD:DP:GQ:PL	0/1:14,12:26:99:279,0,383
chr1	12138578	rs6419481	T	C	686.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6419481;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TNFRSF8|TNFRSF8|transcript|NM_001243.4|protein_coding|14/14|c.1543+142T>C||||||,C|intron_variant|MODIFIER|TNFRSF8|TNFRSF8|transcript|NM_001281430.2|protein_coding|13/13|c.1207+142T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3620;p3_1000G_AF=0.722843;p3_1000G_AFR_AF=0.6755;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=19576;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12198635;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:715,51,0
chr1	12188885	rs945439	A	G	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.67;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.217;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.521;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs945439;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|2/10|c.168A>G|p.Lys56Lys|257/3675|168/1386|56/461||,G|upstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.-2828A>G|||||2828|;p3_1000G_AA=G|||;p3_1000G_AC=998;p3_1000G_AF=0.199281;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=18420;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.2147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12248942;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=976,3430;ESP6500_AA_AGE=729.2+/-410.0;ESP6500_AA_GTC=109,758,1336;ESP6500_CDS_SIZES=NM_001066.2:1386;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=40;ESP6500_EA_AC=2082,6518;ESP6500_EA_AGE=714.2+/-406.0;ESP6500_EA_GTC=274,1534,2492;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001066.2:coding-synonymous;ESP6500_GL=TNFRSF1B;ESP6500_GRCh38_POSITION=1:12188885;ESP6500_GTC=383,2292,3828;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001066.2:c.168A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001066.2:p.(K56);ESP6500_MAF=24.2093,22.1516,23.5122;ESP6500_TAC=3058,9948	GT:AD:DP:GQ:PL	0/1:26,17:43:99:446,0,644
chr1	12188908	rs945438	A	G	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.038;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs945438;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.-2805A>G|||||2805|,G|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|2/9|c.178+13A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=995;p3_1000G_AF=0.198682;p3_1000G_AFR_AF=0.1982;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=18616;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12248965;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=956,3450;ESP6500_AA_GTC=103,750,1350;ESP6500_CDS_SIZES=NM_001066.2:1386;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=24;ESP6500_EA_AC=2066,6532;ESP6500_EA_GTC=273,1520,2506;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001066.2:intron;ESP6500_GL=TNFRSF1B;ESP6500_GRCh38_POSITION=1:12188908;ESP6500_GTC=376,2270,3856;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001066.2:c.178+13A>G;ESP6500_MAF=24.0288,21.6977,23.239;ESP6500_TAC=3022,9982	GT:AD:DP:GQ:PL	0/1:27,16:43:99:360,0,598
chr1	12188963	rs1815530	C	T	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.619;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=0;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1815530;dbSNPBuildID=92;ANN=T|upstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.-2750C>T|||||2750|,T|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|2/9|c.178+68C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=949;p3_1000G_AF=0.189497;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=17827;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12249020;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,9:26:99:200,0,409
chr1	12188974	rs1201157	A	G	711.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1201157;dbSNPBuildID=87;ANN=G|upstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.-2739A>G|||||2739|,G|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|2/9|c.178+79A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3062;p3_1000G_AF=0.611422;p3_1000G_AFR_AF=0.652;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=18295;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12249031;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:740,66,0
chr1	12191134	rs472093	T	A	296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.69;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=7.144;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=2.05;SOR=2.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs472093;dbSNPBuildID=83;ANN=A|upstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.-579T>A|||||579|,A|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|3/9|c.307+49T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=682;p3_1000G_AF=0.136182;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=17202;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12251191;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=390,4016;ESP6500_AA_AGE=785.4+/-414.7;ESP6500_AA_GTC=12,366,1825;ESP6500_CDS_SIZES=NM_001066.2:1386;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=48;ESP6500_EA_AC=1623,6977;ESP6500_EA_AGE=738.5+/-407.1;ESP6500_EA_GTC=181,1261,2858;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001066.2:intron;ESP6500_GL=TNFRSF1B;ESP6500_GRCh38_POSITION=1:12191134;ESP6500_GTC=193,1627,4683;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001066.2:c.307+49T>A;ESP6500_MAF=18.8721,8.8516,15.4775;ESP6500_TAC=2013,10993	GT:AD:DP:GQ:PL	0/1:12,12:24:99:325,0,189
chr1	12191708	rs498906	T	G	655.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.295;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=1.35;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs498906;dbSNPBuildID=83;ANN=G|upstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.-5T>G|||||5|,G|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|3/9|c.308-66T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=971;p3_1000G_AF=0.19389;p3_1000G_AFR_AF=0.1762;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=14703;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.2147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12251765;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,22:37:99:684,0,410
chr1	12191751	rs653667	T	G	801.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.548;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.619;SOR=0.651;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs653667;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|3/9|c.308-23T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene|1/1|n.39T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1521;p3_1000G_AF=0.303714;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=13692;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12251808;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1093,3313;ESP6500_AA_GTC=135,823,1245;ESP6500_CDS_SIZES=NM_001066.2:1386;ESP6500_CG=1.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=25;ESP6500_EA_AC=3158,5442;ESP6500_EA_GTC=585,1988,1727;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001066.2:intron;ESP6500_GL=TNFRSF1B;ESP6500_GRCh38_POSITION=1:12191751;ESP6500_GTC=720,2811,2972;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001066.2:c.308-23T>G;ESP6500_MAF=36.7209,24.8071,32.6849;ESP6500_TAC=4251,8755	GT:AD:DP:GQ:PL	0/1:27,31:58:99:830,0,698
chr1	12192276	rs142196145	CTGTGTGTG	C	270.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.91;SOR=4.804;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs142196145;dbSNPBuildID=134;ANN=C|downstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.*504_*511delTGTGTGTG|||||504|,C|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|4/9|c.458-131_458-124delGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,5:5:13:192,0,13
chr1	12192835	rs1768642	C	T	673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.044;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=0.058;SOR=0.492;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1768642;dbSNPBuildID=89;ANN=T|downstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.*1062C>T|||||1062|,T|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|5/9|c.552-28C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=956;p3_1000G_AF=0.190895;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=15299;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12252892;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=808,3594;ESP6500_AA_GTC=70,668,1463;ESP6500_CDS_SIZES=NM_001066.2:1386;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=46;ESP6500_EA_AC=2016,6582;ESP6500_EA_GTC=263,1490,2546;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001066.2:intron;ESP6500_GL=TNFRSF1B;ESP6500_GRCh38_POSITION=1:12192835;ESP6500_GTC=333,2158,4009;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001066.2:c.552-28C>T;ESP6500_MAF=23.4473,18.3553,21.7231;ESP6500_TAC=2824,10176	GT:AD:DP:GQ:PL	0/1:9,23:32:99:702,0,205
chr1	12192898	rs1061622	T	G	879.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.817;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.41;SOR=0.361;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1061622;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|6/10|c.587T>G|p.Met196Arg|676/3675|587/1386|196/461||,G|downstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.*1125T>G|||||1125|;p3_1000G_AA=T|||;p3_1000G_AC=975;p3_1000G_AF=0.194688;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=15660;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.2177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12252955;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=929,3477;ESP6500_AA_AGE=349.8+/-310.5;ESP6500_AA_GTC=94,741,1368;ESP6500_CDS_SIZES=NM_001066.2:1386;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=112;ESP6500_EA_AC=2069,6531;ESP6500_EA_AGE=355.3+/-329.8;ESP6500_EA_GTC=275,1519,2506;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001066.2:missense;ESP6500_GL=TNFRSF1B;ESP6500_GRCh38_POSITION=1:12192898;ESP6500_GS=91;ESP6500_GTC=369,2260,3874;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001066.2:c.587T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001066.2:p.(M196R);ESP6500_MAF=24.0581,21.0849,23.0509;ESP6500_PH=benign:0.0;ESP6500_TAC=2998,10008	GT:AD:DP:GQ:PL	0/1:23,34:57:99:908,0,653
chr1	12194144	rs2275416	G	A	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.468;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=-0.615;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275416;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|MIR4632|MIR4632|transcript|NR_039775.2|pseudogene||n.*2371G>A|||||2371|,A|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|7/9|c.865+112G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=696;p3_1000G_AF=0.138978;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=19345;p3_1000G_EAS_AF=0.1319;p3_1000G_EUR_AF=0.1948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12254201;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,11:17:99:341,0,193
chr1	12201915	rs5746051	A	G	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.508;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.765;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5746051;dbSNPBuildID=114;ANN=G|intron_variant|MODIFIER|TNFRSF1B|TNFRSF1B|transcript|NM_001066.2|protein_coding|8/9|c.901-52A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=658;p3_1000G_AF=0.13139;p3_1000G_AFR_AF=0.0439;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=17332;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12261972;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=79,1617;ESP6500_AA_GTC=5,69,774;ESP6500_CDS_SIZES=NM_001066.2:1386;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=5;ESP6500_EA_AC=640,3276;ESP6500_EA_GTC=66,508,1384;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001066.2:intron;ESP6500_GL=TNFRSF1B;ESP6500_GRCh38_POSITION=1:12201915;ESP6500_GTC=71,577,2158;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001066.2:c.901-52A>G;ESP6500_MAF=16.3432,4.658,12.8118;ESP6500_TAC=719,4893	GT:AD:DP:GQ:PL	0/1:5,4:9:99:136,0,178
chr1	12308648	rs761754926	GT	G	54.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.217;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.47;ReadPosRankSum=-1.843;SOR=0.627;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|VPS13D|VPS13D|transcript|NM_015378.3|protein_coding|27/69|c.6650+22delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|VPS13D|VPS13D|transcript|NM_018156.3|protein_coding|27/68|c.6650+22delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:5,5:10:92:92,0,116
chr1	12314005	rs4394667	A	T	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.15;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370929403,rs4394667;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|VPS13D|VPS13D|transcript|NM_015378.3|protein_coding|29/69|c.6936-110A>T||||||,T|intron_variant|MODIFIER|VPS13D|VPS13D|transcript|NM_018156.3|protein_coding|29/68|c.6936-110A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=699;p3_1000G_AF=0.139577;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=22856;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12374062;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:85:94,0,85
chr1	12314043	.	C	T	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.75;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.389;SOR=0.693;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|VPS13D|VPS13D|transcript|NM_015378.3|protein_coding|29/69|c.6936-72C>T||||||,T|intron_variant|MODIFIER|VPS13D|VPS13D|transcript|NM_018156.3|protein_coding|29/68|c.6936-72C>T||||||	GT:AD:DP:GQ:PL	0/1:6,6:12:99:137,0,184
chr1	12341811	rs28551666	A	C	2291.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.74;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28551666;dbSNPBuildID=125;ANN=C|synonymous_variant|LOW|VPS13D|VPS13D|transcript|NM_015378.3|protein_coding|41/70|c.8658A>C|p.Pro2886Pro|8816/16347|8658/13167|2886/4388||,C|synonymous_variant|LOW|VPS13D|VPS13D|transcript|NM_018156.3|protein_coding|40/69|c.8583A>C|p.Pro2861Pro|8741/16272|8583/13092|2861/4363||;p3_1000G_AA=A|||;p3_1000G_AC=3990;p3_1000G_AF=0.796725;p3_1000G_AFR_AF=0.7398;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=16866;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.7913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12401868;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3345,1061;ESP6500_AA_AGE=724.7+/-409.5;ESP6500_AA_GTC=1279,787,137;ESP6500_CDS_SIZES=NM_018156.2:13092,NM_015378.2:13167;ESP6500_CG=-11.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=96;ESP6500_EA_AC=6911,1689;ESP6500_EA_AGE=738.5+/-407.1;ESP6500_EA_GTC=2773,1365,162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018156.2:coding-synonymous,NM_015378.2:coding-synonymous;ESP6500_GL=VPS13D;ESP6500_GRCh38_POSITION=1:12341811;ESP6500_GTC=4052,2152,299;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_018156.2:c.8583A>C,NM_015378.2:c.8658A>C;ESP6500_HGVS_PROTEIN_VAR=NM_018156.2:p.(P2861),NM_015378.2:p.(P2886);ESP6500_MAF=19.6395,24.0808,21.1441;ESP6500_TAC=10256,2750	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2320,209,0
chr1	12507106	rs78403005	C	T	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.947;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=0.727;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78403005;dbSNPBuildID=132;ANN=T|upstream_gene_variant|MODIFIER|SNORA59B|SNORA59B|transcript|NR_003022.1|pseudogene||n.-140C>T|||||140|,T|upstream_gene_variant|MODIFIER|SNORA59A|SNORA59A|transcript|NR_003025.1|pseudogene||n.-140C>T|||||140|,T|intron_variant|MODIFIER|VPS13D|VPS13D|transcript|NM_015378.3|protein_coding|69/69|c.13035+13C>T||||||,T|intron_variant|MODIFIER|VPS13D|VPS13D|transcript|NM_018156.3|protein_coding|68/68|c.12960+13C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=503;p3_1000G_AF=0.100439;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=19325;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.0417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12567160;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=497,3909;ESP6500_AA_AGE=228.1+/-243.1;ESP6500_AA_GTC=27,443,1733;ESP6500_CDS_SIZES=NM_018156.2:13092,NM_015378.2:13167;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=71;ESP6500_EA_AC=249,8351;ESP6500_EA_AGE=96.6+/-158.3;ESP6500_EA_GTC=5,239,4056;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018156.2:intron,NM_015378.2:intron;ESP6500_GL=VPS13D;ESP6500_GRCh38_POSITION=1:12507106;ESP6500_GTC=32,682,5789;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018156.2:c.12960+13C>T,NM_015378.2:c.13035+13C>T;ESP6500_MAF=2.8953,11.2801,5.7358;ESP6500_TAC=746,12260	GT:AD:DP:GQ:PL	0/1:28,11:39:99:268,0,895
chr1	12578990	rs2275874	T	C	567.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_004753.6|protein_coding|3/5|c.460-34A>G||||||,C|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_001324370.1|protein_coding|3/5|c.205-34A>G||||||,C|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_001319225.1|protein_coding|3/5|c.205-34A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MIR6730|MIR6730|transcript|NR_106788.2|pseudogene|1/1|n.34A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3048;p3_1000G_AF=0.608626;p3_1000G_AFR_AF=0.8964;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=19024;p3_1000G_EAS_AF=0.6409;p3_1000G_EUR_AF=0.47609999999999997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=12639018;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.38959999999999995;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:596,54,0
chr1	12579261	rs12041395	C	T	1172.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=1.04;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12041395;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|MIR6730|MIR6730|transcript|NR_106788.2|pseudogene||n.-238G>A|||||238|,T|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_004753.6|protein_coding|3/5|c.459+32G>A||||||,T|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_001324370.1|protein_coding|3/5|c.204+32G>A||||||,T|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_001319225.1|protein_coding|3/5|c.204+32G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=318;p3_1000G_AF=0.0634984;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=19016;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.0467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12639289;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=41,4365;ESP6500_AA_AGE=45.3+/-79.5;ESP6500_AA_GTC=0,41,2162;ESP6500_CDS_SIZES=NM_004753.4:909;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=46;ESP6500_EA_AC=322,8278;ESP6500_EA_AGE=113.1+/-173.2;ESP6500_EA_GTC=8,306,3986;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004753.4:intron;ESP6500_GL=DHRS3;ESP6500_GRCh38_POSITION=1:12579261;ESP6500_GTC=8,347,6148;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004753.4:c.459+32G>A;ESP6500_MAF=3.7442,0.9305,2.791;ESP6500_TAC=363,12643	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1201,114,0
chr1	12580433	rs2275873	C	G	403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275873;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|MIR6730|MIR6730|transcript|NR_106788.2|pseudogene||n.-1410G>C|||||1410|,G|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_004753.6|protein_coding|2/5|c.339+90G>C||||||,G|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_001324370.1|protein_coding|2/5|c.84+90G>C||||||,G|intron_variant|MODIFIER|DHRS3|DHRS3|transcript|NM_001319225.1|protein_coding|2/5|c.84+90G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=309;p3_1000G_AF=0.0617013;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=19347;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12640461;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:432,33,0
chr1	12716131	rs3010874	A	C	253.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.75;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.783;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNPBuildID=101;ANN=C|5_prime_UTR_variant|MODIFIER|AADACL3|AADACL3|transcript|NM_001103170.2|protein_coding|1/4|c.-46A>C|||||46|,C|non_coding_transcript_exon_variant|MODIFIER|AADACL3|AADACL3|transcript|NR_111984.1|pseudogene|1/3|n.17A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1460;p3_1000G_AF=0.29153399999999996;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.12819999999999998;p3_1000G_AN=5008;p3_1000G_DP=19271;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.17889999999999995;p3_1000G_GRCH37_POS=12776134;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.25149999999999995;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:282,0,319
chr1	12716341	rs3000859	T	A	762.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.894;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.718;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNPBuildID=101;ANN=A|synonymous_variant|LOW|AADACL3|AADACL3|transcript|NM_001103170.2|protein_coding|1/4|c.165T>A|p.Thr55Thr|227/4049|165/1224|55/407||,A|non_coding_transcript_exon_variant|MODIFIER|AADACL3|AADACL3|transcript|NR_111984.1|pseudogene|1/3|n.227T>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=1720;p3_1000G_AF=0.34345000000000003;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.15269999999999995;p3_1000G_AN=5008;p3_1000G_DP=19887;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.18489999999999995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=12776344;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.25770000000000004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,32:66:99:791,0,874
chr1	12793254	rs1737157	A	C	1468.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.78;QD=34.16;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1737157;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|2/4|c.27A>C|p.Leu9Leu|130/2160|27/1425|9/474||,C|upstream_gene_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding||c.-1585A>C|||||1437|;p3_1000G_AA=c|||;p3_1000G_AC=1950;p3_1000G_AF=0.389377;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=23798;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.3767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12853403;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1497,129,0
chr1	12793849	rs1737155	C	G	860.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.98;QD=33.11;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201383196;dbSNPBuildID=89;ANN=G|upstream_gene_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding||c.-990C>G|||||842|,G|intron_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|2/3|c.288-66C>G||||||	GT:AD:DP:GQ:PL	1/1:0,26:26:78:889,78,0
chr1	12794279	rs1769774	C	T	3086.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.05;QD=31.5;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1769774;dbSNPBuildID=89;ANN=T|missense_variant|MODERATE|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|3/4|c.652C>T|p.Pro218Ser|755/2160|652/1425|218/474||,T|upstream_gene_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding||c.-560C>T|||||412|;ESP6500_AA=G;ESP6500_AA_AC=959,3447;ESP6500_AA_GTC=7,945,1251;ESP6500_CDS_SIZES=NM_023013.2:1425;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=282;ESP6500_EA_AC=2715,5885;ESP6500_EA_GTC=261,2193,1846;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023013.2:missense;ESP6500_GL=PRAMEF1;ESP6500_GRCh38_POSITION=1:12794279;ESP6500_GS=74;ESP6500_GTC=268,3138,3097;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_023013.2:c.652C>T;ESP6500_HGVS_PROTEIN_VAR=NM_023013.2:p.(P218S);ESP6500_MAF=31.5698,21.7658,28.2485;ESP6500_PH=benign:0.014;ESP6500_TAC=3674,9332	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3115,294,0
chr1	12794395	rs1063778	T	C	2527.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.73;QD=31.6;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1063778;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|3/4|c.768T>C|p.Val256Val|871/2160|768/1425|256/474||,C|upstream_gene_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding||c.-444T>C|||||296|;p3_1000G_AA=c|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=21791;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.3509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12854544;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1115,3291;ESP6500_AA_GTC=151,813,1239;ESP6500_CDS_SIZES=NM_023013.2:1425;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=147;ESP6500_EA_AC=3096,5502;ESP6500_EA_GTC=636,1824,1839;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023013.2:coding-synonymous;ESP6500_GL=PRAMEF1;ESP6500_GRCh38_POSITION=1:12794395;ESP6500_GTC=787,2637,3078;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_023013.2:c.768T>C;ESP6500_HGVS_PROTEIN_VAR=NM_023013.2:p.(V256);ESP6500_MAF=36.0084,25.3064,32.3823;ESP6500_TAC=4211,8793	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2556,240,0
chr1	12794564	rs11121979	T	G	719.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.71;QD=37.07;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding||c.-275T>G|||||127|,G|intron_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|3/3|c.866+71T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.4395;p3_1000G_AN=5008;p3_1000G_DP=22120;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_POS=12854713;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6073999999999999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:12794564_T_G:748,51,0
chr1	12794567	rs1737150	A	G	719.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.29;QD=28.89;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1737150;dbSNPBuildID=89;ANN=G|upstream_gene_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding||c.-272A>G|||||124|,G|intron_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|3/3|c.866+74A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=1774;p3_1000G_AF=0.354233;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=21755;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.3489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12854716;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:51:1|1:12794564_T_G:748,51,0
chr1	12794781	rs2744046	T	G	394.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.62;QD=31.43;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2744046;dbSNPBuildID=100;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding|1/2|c.-58T>G||||||,G|5_prime_UTR_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding|1/2|c.-58T>G|||||58|,G|intron_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|3/3|c.866+288T>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=1440;p3_1000G_AF=0.28754;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=27249;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12854930;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:423,30,0
chr1	12795729	rs1052908	A	C	2385.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.55;QD=34.58;SOR=2.015;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052908;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|4/4|c.1158A>C|p.Arg386Ser|1261/2160|1158/1425|386/474||,C|missense_variant|MODERATE|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding|2/2|c.423A>C|p.Arg141Ser|571/1470|423/690|141/229||	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2414,206,0
chr1	12795997	rs1974302	G	A	435.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.23;QD=29.05;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1974302;dbSNPBuildID=92;ANN=A|3_prime_UTR_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_023013.4|protein_coding|4/4|c.*1G>A|||||1|,A|3_prime_UTR_variant|MODIFIER|PRAMEF1|PRAMEF1|transcript|NM_001294139.1|protein_coding|2/2|c.*1G>A|||||1|	GT:AD:DP:GQ:PL	1/1:0,15:15:45:464,45,0
chr1	12827195	rs3738105	C	G	1324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.67;QD=27.04;SOR=1.345;SNP;HET;VARTYPE=SNP;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PRAMEF11|PRAMEF11|transcript|NM_001146344.2|protein_coding|3/3|c.875+54G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1170;p3_1000G_AF=0.233626;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=26746;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_POS=12887054;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/0:0,22:22:99:1353,788,722
chr1	12827195	rs3738105	C	T	1324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.67;QD=27.04;SOR=1.345;SNP;HET;VARTYPE=SNP;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PRAMEF11|PRAMEF11|transcript|NM_001146344.2|protein_coding|3/3|c.875+54G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3035;p3_1000G_AF=0.606031;p3_1000G_AFR_AF=0.6513;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=26746;p3_1000G_EAS_AF=0.6012;p3_1000G_EUR_AF=0.6293;p3_1000G_GRCH37_POS=12887054;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:0,27:27:99:1353,565,485
chr1	12827720	rs2486717;rs765995170	T	G	5987.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=173;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.36;QD=34.61;SOR=1.083;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144,100;ANN=G|missense_variant|MODERATE|PRAMEF11|PRAMEF11|transcript|NM_001146344.2|protein_coding|3/4|c.404A>C|p.Lys135Thr|475/1690|404/1437|135/478||;p3_1000G_AA=.|||;p3_1000G_AC=4996;p3_1000G_AF=0.99760383;p3_1000G_AFR_AF=1.0;p3_1000G_AMR_AF=1.0;p3_1000G_AN=5008;p3_1000G_DP=19361;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=1.0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=12887579;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,173:173:99:6016,520,0
chr1	12838794	rs149631941	C	T	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.155;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.77;MQRankSum=-0.459;QD=6.34;ReadPosRankSum=0.829;SOR=0.769;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149631941;dbSNPBuildID=134;ANN=T|intergenic_region|MODIFIER|PRAMEF11-HNRNPCL1|PRAMEF11-HNRNPCL1|intergenic_region|PRAMEF11-HNRNPCL1|||n.12838794C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=445;p3_1000G_AF=0.0888578;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=15008;p3_1000G_EAS_AF=0.1111;p3_1000G_EUR_AF=0.1123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12898647;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,13:44:99:307,0,931
chr1	12838801	rs55954336	G	A	1623.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.72;QD=29.47;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=129;ANN=A|intergenic_region|MODIFIER|PRAMEF11-HNRNPCL1|PRAMEF11-HNRNPCL1|intergenic_region|PRAMEF11-HNRNPCL1|||n.12838801G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2738;p3_1000G_AF=0.546725;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=14710;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.5457000000000001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=12898654;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1652,135,0
chr1	12838849	rs74893719	C	T	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.074;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=4.505;MLEAC=1;MLEAF=0.5;MQ=40.44;MQRankSum=0.972;QD=3.44;ReadPosRankSum=0.943;SOR=2.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113071546;dbSNPBuildID=131;ANN=T|intergenic_region|MODIFIER|PRAMEF11-HNRNPCL1|PRAMEF11-HNRNPCL1|intergenic_region|PRAMEF11-HNRNPCL1|||n.12838849C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=545;p3_1000G_AF=0.108826;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs113071546;p3_1000G_DP=15836;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12898702;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,6:29:99:128,0,693
chr1	12838922	rs4307581	C	G	1096.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.22;QD=32.35;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61775386;dbSNPBuildID=111;ANN=G|intergenic_region|MODIFIER|PRAMEF11-HNRNPCL1|PRAMEF11-HNRNPCL1|intergenic_region|PRAMEF11-HNRNPCL1|||n.12838922C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3422;p3_1000G_AF=0.683307;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs61775386;p3_1000G_DP=17359;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.6282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12898775;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:12838922_C_G:1125,75,0
chr1	12838925	rs4323722	T	A	1096.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.22;QD=31.82;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61775387;dbSNPBuildID=111;ANN=A|intergenic_region|MODIFIER|PRAMEF11-HNRNPCL1|PRAMEF11-HNRNPCL1|intergenic_region|PRAMEF11-HNRNPCL1|||n.12838925T>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3397;p3_1000G_AF=0.678315;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs61775387;p3_1000G_DP=17306;p3_1000G_EAS_AF=0.625;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12898778;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:12838922_C_G:1125,75,0
chr1	12838957	rs61775388	T	C	766.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.5;QD=33.34;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71647070;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|PRAMEF11-HNRNPCL1|PRAMEF11-HNRNPCL1|intergenic_region|PRAMEF11-HNRNPCL1|||n.12838957T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1835;p3_1000G_AF=0.366414;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=18269;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.4205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12898810;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:795,69,0
chr1	12861780	rs144099057	G	A	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.243;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.5;MQRankSum=-2.159;QD=2.31;ReadPosRankSum=1.22;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144099057;dbSNPBuildID=137;ANN=A|3_prime_UTR_variant|MODIFIER|PRAMEF2|PRAMEF2|transcript|NM_023014.1|protein_coding|4/4|c.*1G>A|||||1|	GT:AD:DP:GQ:PL	0/1:17,5:22:79:79,0,499
chr1	12882152	rs748168347	G	A	837.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.265;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=0.817;MLEAC=1;MLEAF=0.5;MQ=36.21;MQRankSum=-0.365;QD=9.52;ReadPosRankSum=0.491;SOR=0.74;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|PRAMEF4|PRAMEF4|transcript|NM_001009611.4|protein_coding|3/4|c.577C>T|p.Pro193Ser|648/1840|577/1437|193/478||	GT:AD:DP:GQ:PL	0/1:52,36:88:99:866,0,1514
chr1	12882298	rs3927874;rs754700985	T	C	3120.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.93;QD=31.21;SOR=0.863;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144,111;ANN=C|missense_variant|MODERATE|PRAMEF4|PRAMEF4|transcript|NM_001009611.4|protein_coding|3/4|c.431A>G|p.Lys144Arg|502/1840|431/1437|144/478||;p3_1000G_AA=c|||;p3_1000G_AC=3902;p3_1000G_AF=0.779153;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs61781964;p3_1000G_DP=19322;p3_1000G_EAS_AF=0.7817000000000001;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=12942119;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3149,300,0
chr1	12882503	rs200203261	G	C	132.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=3.068;MLEAC=1;MLEAF=0.5;MQ=46.97;MQRankSum=-2.532;QD=1.64;ReadPosRankSum=1.85;SOR=1.311;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200203261;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|PRAMEF4|PRAMEF4|transcript|NM_001009611.4|protein_coding|2/3|c.294-68C>G||||||	GT:AD:DP:GQ:PL	0/1:69,12:81:99:161,0,1991
chr1	12882557	rs4503361	T	C	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.85;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=10.09;MLEAC=1;MLEAF=0.5;MQ=54.88;MQRankSum=-5.682;QD=2.75;ReadPosRankSum=-2.099;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4503361;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|PRAMEF4|PRAMEF4|transcript|NM_001009611.4|protein_coding|2/3|c.294-122A>G||||||	GT:AD:DP:GQ:PL	0/1:40,9:49:99:163,0,1174
chr1	12882578	rs1809723	G	A	893.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.117;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=2.507;MLEAC=1;MLEAF=0.5;MQ=55.09;MQRankSum=4.64;QD=24.16;ReadPosRankSum=3.88;SOR=0.248;SNP;HET;VARTYPE=SNP;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|PRAMEF4|PRAMEF4|transcript|NM_001009611.4|protein_coding|2/3|c.294-143C>T||||||	GT:AD:DP:GQ:PL	0/1:6,31:37:99:922,0,127
chr1	12883041	rs3928863	C	G	297.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|PRAMEF4|PRAMEF4|transcript|NM_001009611.4|protein_coding|2/3|c.293+61G>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2610;p3_1000G_AF=0.521166;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs61778465;p3_1000G_DP=14994;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.47909999999999997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=12942862;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.5235000000000001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:326,30,0
chr1	12893335	rs1266105512	T	G	2313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.55;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.76;MQRankSum=0.087;QD=20.84;ReadPosRankSum=-0.681;SOR=0.733;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF10|PRAMEF10|transcript|NM_001039361.4|protein_coding|4/4|c.1006A>C|p.Asn336His|1086/1525|1006/1425|336/474||	GT:AD:DP:GQ:PL	0/1:34,77:111:99:2342,0,1144
chr1	12893339	rs200342231	G	A	650.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.494;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.84;MQRankSum=1.08;QD=6.14;ReadPosRankSum=0.267;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200342231;dbSNPBuildID=137;ANN=A|synonymous_variant|LOW|PRAMEF10|PRAMEF10|transcript|NM_001039361.4|protein_coding|4/4|c.1002C>T|p.Thr334Thr|1082/1525|1002/1425|334/474||	GT:AD:DP:GQ:PL	0/1:75,31:106:99:679,0,3089
chr1	12893425	rs848424	T	C	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.36;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=16.342;MLEAC=1;MLEAF=0.5;MQ=50.59;MQRankSum=-4.007;QD=6.92;ReadPosRankSum=-0.6;SOR=3.912;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199702833;dbSNPBuildID=147;ANN=C|missense_variant|MODERATE|PRAMEF10|PRAMEF10|transcript|NM_001039361.4|protein_coding|4/4|c.916A>G|p.Thr306Ala|996/1525|916/1425|306/474||	GT:AD:DP:GQ:PL	0/1:40,13:53:99:395,0,1161
chr1	12893437	rs61780549	C	G	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=3.012;MLEAC=1;MLEAF=0.5;MQ=49.95;MQRankSum=0.71;QD=7.97;ReadPosRankSum=0.453;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200660038;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|PRAMEF10|PRAMEF10|transcript|NM_001039361.4|protein_coding|4/4|c.904G>C|p.Asp302His|984/1525|904/1425|302/474||	GT:AD:DP:GQ:PL	0/1:32,16:48:99:411,0,1020
chr1	12893472	rs4661498	T	C	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.57;MQRankSum=-1.115;QD=8.44;ReadPosRankSum=-1.186;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201840380;dbSNPBuildID=111;ANN=C|missense_variant&splice_region_variant|MODERATE|PRAMEF10|PRAMEF10|transcript|NM_001039361.4|protein_coding|4/4|c.869A>G|p.Tyr290Cys|949/1525|869/1425|290/474||	GT:AD:DP:GQ:PL	0/1:17,10:27:99:256,0,461
chr1	12895136	rs879429297	T	G	902.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.85;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=21.701;MLEAC=1;MLEAF=0.5;MQ=41.47;MQRankSum=-4.627;QD=14.56;ReadPosRankSum=-1.384;SOR=2.696;SNP;HET;VARTYPE=SNP;dbSNPBuildID=149;ANN=G|synonymous_variant|LOW|PRAMEF10|PRAMEF10|transcript|NM_001039361.4|protein_coding|3/4|c.316A>C|p.Arg106Arg|396/1525|316/1425|106/474||	GT:AD:DP:GQ:PL	0/1:26,36:62:99:931,0,625
chr1	12895167	rs2790797	A	G	570.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.754;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=35.908;MLEAC=1;MLEAF=0.5;MQ=41.48;MQRankSum=5.26;QD=11.89;ReadPosRankSum=0.644;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|PRAMEF10|PRAMEF10|transcript|NM_001039361.4|protein_coding|2/3|c.288-3T>C||||||	GT:AD:DP:GQ:PL	0/1:24,24:48:99:599,0,586
chr1	12920302	rs9328936	C	G	5354.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.204;ClippingRankSum=0;DP=203;ExcessHet=3.0103;FS=4.705;MLEAC=1;MLEAF=0.5;MQ=36.46;MQRankSum=-1.831;QD=26.38;ReadPosRankSum=1.19;SOR=1.093;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=G|missense_variant|MODERATE|PRAMEF7|PRAMEF7|transcript|NM_001012277.4|protein_coding|4/4|c.1314C>G|p.Asn438Lys|1380/1558|1314/1425|438/474||;p3_1000G_AA=g|||;p3_1000G_AC=4678;p3_1000G_AF=0.9341054;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.8718;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs148616830;p3_1000G_DP=13386;p3_1000G_EAS_AF=0.9623;p3_1000G_EUR_AF=0.9095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=12980122;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:55,148:203:99:5383,0,1015
chr1	12920307	rs1832597	T	C	2257.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=196;ExcessHet=3.0103;FS=1.799;MLEAC=1;MLEAF=0.5;MQ=36.1;MQRankSum=-2.441;QD=11.52;ReadPosRankSum=0.907;SOR=0.854;SNP;HET;VARTYPE=SNP;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|PRAMEF7|PRAMEF7|transcript|NM_001012277.4|protein_coding|4/4|c.1319T>C|p.Leu440Pro|1385/1558|1319/1425|440/474||	GT:AD:DP:GQ:PL	0/1:96,100:196:99:2286,0,3566
chr1	12920412	rs9328937	G	A	285.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.489;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=26.92;MQRankSum=0.613;QD=4.47;ReadPosRankSum=-0.629;SOR=0.114;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201674075;dbSNPBuildID=119;ANN=A|stop_retained_variant|LOW|PRAMEF7|PRAMEF7|transcript|NM_001012277.4|protein_coding|4/4|c.1424G>A|p.Ter475Ter|1490/1558|1424/1425|475/474||	GT:AD:DP:GQ:PL	0/1:48,16:64:99:314,0,1304
chr1	12938592	rs1364257850	A	T	89.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.737;MLEAC=1;MLEAF=0.5;MQ=29.3;MQRankSum=-2.139;QD=4.08;ReadPosRankSum=0.704;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|3_prime_UTR_variant|MODIFIER|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|4/4|c.*83T>A|||||83|	GT:AD:DP:GQ:PL	0/1:16,6:22:99:118,0,440
chr1	12938736	rs77498625	C	T	802.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.011;ClippingRankSum=0;DP=162;ExcessHet=3.0103;FS=1.492;MLEAC=1;MLEAF=0.5;MQ=35.18;MQRankSum=-4.037;QD=4.96;ReadPosRankSum=-0.724;SOR=0.842;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|4/4|c.1370G>A|p.Cys457Tyr|1456/1720|1370/1431|457/476||	GT:AD:DP:GQ:PL	0/1:117,45:162:99:831,0,2988
chr1	12938780	rs61779360	C	A	1001.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.141;ClippingRankSum=0;DP=230;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37;MQRankSum=-0.926;QD=4.36;ReadPosRankSum=0.804;SOR=0.715;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|4/4|c.1326G>T|p.Val442Val|1412/1720|1326/1431|442/476||;p3_1000G_AA=c|||;p3_1000G_AC=8;p3_1000G_AF=0.00159744;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=16582;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12998610;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:169,61:230:99:1030,0,4138
chr1	12938859	rs6604961	G	A	1084.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.882;ClippingRankSum=0;DP=230;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.41;MQRankSum=-1.334;QD=4.74;ReadPosRankSum=-1.209;SOR=0.65;SNP;HET;VARTYPE=SNP;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|4/4|c.1247C>T|p.Pro416Leu|1333/1720|1247/1431|416/476||	GT:AD:DP:GQ:PL	0/1:167,62:229:99:1113,0,4061
chr1	12938878	rs74702454	C	G	750.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.116;ClippingRankSum=0;DP=209;ExcessHet=3.0103;FS=4.84;MLEAC=1;MLEAF=0.5;MQ=36.02;MQRankSum=-2.386;QD=3.61;ReadPosRankSum=-2.161;SOR=1.072;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201734466;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|4/4|c.1228G>C|p.Val410Leu|1314/1720|1228/1431|410/476||	GT:AD:DP:GQ:PL	0/1:158,50:208:99:779,0,3896
chr1	12939075	rs6604962	A	G	54.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.65;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.644;MLEAC=1;MLEAF=0.5;MQ=28.23;MQRankSum=-0.47;QD=2.28;ReadPosRankSum=1.15;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|4/4|c.1031T>C|p.Leu344Pro|1117/1720|1031/1431|344/476||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,5:24:83:0|1:12939075_A_G:83,0,572
chr1	12941588	rs6604943	A	C	771.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.43;QD=33.56;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|2/3|c.288-23T>G||||||	GT:AD:DP:GQ:PL	1/1:0,23:23:69:800,69,0
chr1	12941633	rs77463497	C	G	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.076;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.22;MQRankSum=-1.705;QD=9.46;ReadPosRankSum=2.11;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|2/3|c.288-68G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=4690;p3_1000G_AF=0.9365016;p3_1000G_AFR_AF=0.9788;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs201152744;p3_1000G_DP=8180;p3_1000G_EAS_AF=0.9087;p3_1000G_EUR_AF=0.9354;p3_1000G_GRCH37_POS=13001463;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9376;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:189,0,230
chr1	12941662	rs1272348101	C	G	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.063;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.73;MQRankSum=2.11;QD=12.72;ReadPosRankSum=0.685;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|PRAMEF6|PRAMEF6|transcript|NM_001010889.2|protein_coding|2/3|c.288-97G>C||||||	GT:AD:DP:GQ:PL	0/1:9,10:19:99:270,0,199
chr1	13030987	rs1319770524	T	C	32.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25;QD=16.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|PRAMEF6-PRAMEF27|PRAMEF6-PRAMEF27|intergenic_region|PRAMEF6-PRAMEF27|||n.13030987T>C||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0
chr1	13031995	rs1252310224	G	C	26.75	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=22.55;QD=13.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|PRAMEF6-PRAMEF27|PRAMEF6-PRAMEF27|intergenic_region|PRAMEF6-PRAMEF27|||n.13031995G>C||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:54,6,0
chr1	13032090	rs1356389803	C	G	212.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.26;QD=23.64;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|PRAMEF6-PRAMEF27|PRAMEF6-PRAMEF27|intergenic_region|PRAMEF6-PRAMEF27|||n.13032090C>G||||||	GT:AD:DP:GQ:PL	1/1:0,9:9:27:241,27,0
chr1	13050461	rs1268903358	A	T	29.75	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=23.55;QD=14.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|PRAMEF27|PRAMEF27|transcript|NM_001300891.1|protein_coding|2/2|c.876-92T>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0
chr1	13052212	rs1334474933	G	T	58.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=19.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|PRAMEF27|PRAMEF27|transcript|NM_001300891.1|protein_coding|2/3|c.781C>A|p.Gln261Lys|781/1437|781/1437|261/478||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:86,9,0
chr1	13053374	rs1437057616	A	G	32.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25;QD=16.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF27|PRAMEF27|transcript|NM_001300891.1|protein_coding|1/3|c.286T>C|p.Cys96Arg|286/1437|286/1437|96/478||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0
chr1	13053512	rs1165104694	A	G	117.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24.44;QD=23.58;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF27|PRAMEF27|transcript|NM_001300891.1|protein_coding|1/3|c.148T>C|p.Cys50Arg|148/1437|148/1437|50/478||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:146,15,0
chr1	13053583	rs1398341661	G	A	159.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.675;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.801;MLEAC=1;MLEAF=0.5;MQ=31.75;MQRankSum=0.329;QD=7.61;ReadPosRankSum=-2.807;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|missense_variant|MODERATE|PRAMEF27|PRAMEF27|transcript|NM_001300891.1|protein_coding|1/3|c.77C>T|p.Ala26Val|77/1437|77/1437|26/478||	GT:AD:DP:GQ:PL	0/1:12,9:21:99:188,0,473
chr1	13053585	rs1216661450	C	T	126.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.402;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=6.923;MLEAC=1;MLEAF=0.5;MQ=31.75;MQRankSum=-0.484;QD=6.04;ReadPosRankSum=1.74;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|synonymous_variant|LOW|PRAMEF27|PRAMEF27|transcript|NM_001300891.1|protein_coding|1/3|c.75G>A|p.Leu25Leu|75/1437|75/1437|25/478||	GT:AD:DP:GQ:PL	0/1:13,8:21:99:155,0,518
chr1	13053588	rs1277201158	G	A	18.82	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.643;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.262;MLEAC=1;MLEAF=0.5;MQ=31.55;MQRankSum=0.219;QD=0.86;ReadPosRankSum=1.08;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|synonymous_variant|LOW|PRAMEF27|PRAMEF27|transcript|NM_001300891.1|protein_coding|1/3|c.72C>T|p.Ala24Ala|72/1437|72/1437|24/478||	GT:AD:DP:GQ:PL	0/1:18,4:22:47:47,0,723
chr1	13175322	rs879181951	G	T	78.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.651;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=7.336;MLEAC=1;MLEAF=0.5;MQ=43.65;MQRankSum=-4.29;QD=1.06;ReadPosRankSum=0.215;SOR=1.546;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=T|synonymous_variant|LOW|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|1/3|c.42G>T|p.Leu14Leu|42/1437|42/1437|14/478||,T|synonymous_variant|LOW|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|1/3|c.42G>T|p.Leu14Leu|42/1437|42/1437|14/478||	GT:AD:DP:GQ:PL	0/1:64,10:74:99:107,0,1940
chr1	13175583	rs1172158776	C	G	670.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=4.678;MLEAC=1;MLEAF=0.5;MQ=38.02;MQRankSum=-1.759;QD=12.2;ReadPosRankSum=-0.105;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|1/2|c.293+10C>G||||||,G|intron_variant|MODIFIER|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|1/2|c.293+10C>G||||||	GT:AD:DP:GQ:PL	0/1:30,25:55:99:699,0,808
chr1	13176222	rs1436552013	C	T	428.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.161;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.694;MLEAC=1;MLEAF=0.5;MQ=28.09;MQRankSum=1.66;QD=7.03;ReadPosRankSum=1.57;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|1/2|c.294-19C>T||||||,T|intron_variant|MODIFIER|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|1/2|c.294-19C>T||||||	GT:AD:DP:GQ:PL	0/1:38,23:61:99:457,0,868
chr1	13176324	rs1355578841	C	G	82.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.731;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=8.066;MLEAC=1;MLEAF=0.5;MQ=26.29;MQRankSum=0.605;QD=2.3;ReadPosRankSum=1.57;SOR=2.742;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|2/3|c.377C>G|p.Ser126Cys|377/1437|377/1437|126/478||,G|missense_variant|MODERATE|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|2/3|c.377C>G|p.Ser126Cys|377/1437|377/1437|126/478||	GT:AD:DP:GQ:PL	0/1:29,7:36:99:111,0,788
chr1	13176384	rs1339853792	A	G	45.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.77;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=4.274;MLEAC=1;MLEAF=0.5;MQ=25.29;MQRankSum=0.682;QD=1.27;ReadPosRankSum=0.419;SOR=1.177;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|2/3|c.437A>G|p.Gln146Arg|437/1437|437/1437|146/478||,G|missense_variant|MODERATE|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|2/3|c.437A>G|p.Gln146Arg|437/1437|437/1437|146/478||	GT:AD:DP:GQ:PL	0/1:30,6:36:74:74,0,788
chr1	13176728	rs3895154	C	A	100.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.863;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.533;MLEAC=1;MLEAF=0.5;MQ=26.41;MQRankSum=-0.478;QD=4.2;ReadPosRankSum=0.391;SOR=2.012;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=A|missense_variant|MODERATE|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|2/3|c.781C>A|p.Gln261Lys|781/1437|781/1437|261/478||,A|missense_variant|MODERATE|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|2/3|c.781C>A|p.Gln261Lys|781/1437|781/1437|261/478||	GT:AD:DP:GQ:PL	0/1:17,7:24:99:129,0,449
chr1	13178750	rs1263798891	C	T	191.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.192;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.096;MLEAC=1;MLEAF=0.5;MQ=32.09;MQRankSum=1.14;QD=5.33;ReadPosRankSum=-0.183;SOR=2.461;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|3/3|c.1055C>T|p.Ala352Val|1055/1437|1055/1437|352/478||,T|missense_variant|MODERATE|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|3/3|c.1055C>T|p.Ala352Val|1055/1437|1055/1437|352/478||	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,8:36:99:0|1:13178750_C_T:220,0,1492
chr1	13178764	rs1466382608	T	C	172.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.187;MLEAC=1;MLEAF=0.5;MQ=32.13;MQRankSum=1.38;QD=4.8;ReadPosRankSum=0.022;SOR=2.168;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|synonymous_variant|LOW|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|3/3|c.1069T>C|p.Leu357Leu|1069/1437|1069/1437|357/478||,C|synonymous_variant|LOW|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|3/3|c.1069T>C|p.Leu357Leu|1069/1437|1069/1437|357/478||	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,7:36:99:0|1:13178750_C_T:201,0,1468
chr1	13178805	rs1266607628	C	T	95.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.381;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.37;MQRankSum=1.35;QD=1.92;ReadPosRankSum=1.9;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|synonymous_variant|LOW|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|3/3|c.1110C>T|p.Asn370Asn|1110/1437|1110/1437|370/478||,T|synonymous_variant|LOW|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|3/3|c.1110C>T|p.Asn370Asn|1110/1437|1110/1437|370/478||	GT:AD:DP:GQ:PL	0/1:42,8:50:99:124,0,1269
chr1	13178835	rs1211386606	T	G	289.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.68;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.13;MQRankSum=0.485;QD=4.75;ReadPosRankSum=-1.187;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|3/3|c.1140T>G|p.Phe380Leu|1140/1437|1140/1437|380/478||,G|missense_variant|MODERATE|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|3/3|c.1140T>G|p.Phe380Leu|1140/1437|1140/1437|380/478||	GT:AD:DP:GQ:PL	0/1:46,15:61:99:318,0,1321
chr1	13178951	rs72474524	G	A	983.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.706;ClippingRankSum=0;DP=184;ExcessHet=3.0103;FS=3.875;MLEAC=1;MLEAF=0.5;MQ=45.02;MQRankSum=-1.235;QD=5.35;ReadPosRankSum=0.911;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=130;ANN=A|missense_variant|MODERATE|PRAMEF9|PRAMEF9|transcript|NM_001010890.2|protein_coding|3/3|c.1256G>A|p.Arg419Gln|1256/1437|1256/1437|419/478||,A|missense_variant|MODERATE|PRAMEF27|PRAMEF27.2|transcript|NM_001300891.1.2|protein_coding|3/3|c.1256G>A|p.Arg419Gln|1256/1437|1256/1437|419/478||;p3_1000G_AA=-|||;p3_1000G_AC=2342;p3_1000G_AF=0.46765199999999996;p3_1000G_AFR_AF=0.5091;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=14466;p3_1000G_EAS_AF=0.3254;p3_1000G_EUR_AF=0.4821;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=13052907;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.5133;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:133,51:184:99:1012,0,3432
chr1	13198424	rs1453407869	G	A	321.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.389;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.16;MQRankSum=1.03;QD=8.7;ReadPosRankSum=1.3;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|missense_variant|MODERATE|PRAMEF13|PRAMEF13|transcript|NM_001291380.1|protein_coding|3/4|c.770C>T|p.Thr257Ile|873/2163|770/1425|257/474||	GT:AD:DP:GQ:PL	0/1:24,13:37:99:350,0,739
chr1	13199262	rs41290380	A	G	39.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=25.91;MQRankSum=1.98;QD=4.42;ReadPosRankSum=-1.732;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|PRAMEF13|PRAMEF13|transcript|NM_001291380.1|protein_coding|2/3|c.287+41T>C||||||	GT:AD:DP:GQ:PL	0/1:6,3:9:68:68,0,153
chr1	13199588	rs1462467408	A	C	102.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.18;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=5.477;MLEAC=1;MLEAF=0.5;MQ=25.61;MQRankSum=-0.035;QD=3.81;ReadPosRankSum=-2.225;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|start_lost|HIGH|PRAMEF13|PRAMEF13|transcript|NM_001291380.1|protein_coding|2/4|c.2T>G|p.Met1?|105/2163|2/1425|1/474||;LOF=(PRAMEF13|PRAMEF13|1|1.00)	GT:AD:DP:GQ:PL	0/1:20,7:27:99:131,0,526
chr1	13223492	rs55667172	A	G	343.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.368;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=3.032;MLEAC=1;MLEAF=0.5;MQ=39.8;MQRankSum=-3.723;QD=7.02;ReadPosRankSum=-0.146;SOR=0.273;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|3/3|c.1280T>C|p.Leu427Ser|1328/2125|1280/1440|427/479||,G|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|3/3|c.1283T>C|p.Leu428Ser|1283/1443|1283/1443|428/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,12:49:99:0|1:13223492_A_G:372,0,1405
chr1	13223511	rs28609879	T	C	340.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.569;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=5.526;MLEAC=1;MLEAF=0.5;MQ=35.04;MQRankSum=-3.095;QD=8.31;ReadPosRankSum=-1.428;SOR=0.189;SNP;HET;VARTYPE=SNP;dbSNPBuildID=125;ANN=C|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|3/3|c.1261A>G|p.Asn421Asp|1309/2125|1261/1440|421/479||,C|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|3/3|c.1264A>G|p.Asn422Asp|1264/1443|1264/1443|422/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,11:41:99:0|1:13223492_A_G:369,0,1260
chr1	13223512	rs28393762	G	A	340.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.678;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=5.526;MLEAC=1;MLEAF=0.5;MQ=35.04;MQRankSum=-3.095;QD=8.31;ReadPosRankSum=-1.38;SOR=0.189;SNP;HET;VARTYPE=SNP;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|3/3|c.1260C>T|p.Asp420Asp|1308/2125|1260/1440|420/479||,A|synonymous_variant|LOW|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|3/3|c.1263C>T|p.Asp421Asp|1263/1443|1263/1443|421/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,11:41:99:0|1:13223492_A_G:369,0,1260
chr1	13223594	rs55830102	G	C	50.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.951;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.12;MQRankSum=-2.166;QD=3.17;ReadPosRankSum=1.94;SOR=0.138;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|3/3|c.1178C>G|p.Ala393Gly|1226/2125|1178/1440|393/479||,C|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|3/3|c.1181C>G|p.Ala394Gly|1181/1443|1181/1443|394/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PL	0/1:12,4:16:79:79,0,419
chr1	13224919	rs61780079	T	A	583.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.859;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=2.334;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=-0.043;SOR=0.383;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|2/3|c.802A>T|p.Asn268Tyr|850/2125|802/1440|268/479||,A|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|2/3|c.805A>T|p.Asn269Tyr|805/1443|805/1443|269/480||WARNING_TRANSCRIPT_NO_START_CODON;p3_1000G_AA=-|||;p3_1000G_AC=4341;p3_1000G_AF=0.8668130000000001;p3_1000G_AFR_AF=0.8722;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=7725;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=13036736;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.8303;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:51,28:79:99:612,0,1426
chr1	13225001	rs71237278	A	G	1423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=113;ExcessHet=3.0103;FS=2.518;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.894;SOR=0.468;SNP;HET;VARTYPE=SNP;dbSNPBuildID=130;ANN=G|synonymous_variant|LOW|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|2/3|c.720T>C|p.Ser240Ser|768/2125|720/1440|240/479||,G|synonymous_variant|LOW|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|2/3|c.723T>C|p.Ser241Ser|723/1443|723/1443|241/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1452,0,1576
chr1	13225068	rs61780078;rs983913117	A	G	913.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.03;ClippingRankSum=0;DP=154;ExcessHet=3.0103;FS=0.701;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.93;ReadPosRankSum=-0.136;SOR=0.592;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150,130;ANN=G|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|2/3|c.653T>C|p.Leu218Pro|701/2125|653/1440|218/479||,G|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|2/3|c.656T>C|p.Leu219Pro|656/1443|656/1443|219/480||WARNING_TRANSCRIPT_NO_START_CODON;p3_1000G_AA=.|||;p3_1000G_AC=4627;p3_1000G_AF=0.9239217;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=5665;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.9264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=13330627;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:114,40:154:99:942,0,3208
chr1	13225208	rs1320957	C	G	1620.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.229;ClippingRankSum=0;DP=256;ExcessHet=3.0103;FS=5.929;MLEAC=1;MLEAF=0.5;MQ=59.59;MQRankSum=-1.512;QD=6.36;ReadPosRankSum=-0.24;SOR=1.068;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=G|synonymous_variant|LOW|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|2/3|c.513G>C|p.Val171Val|561/2125|513/1440|171/479||,G|synonymous_variant|LOW|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|2/3|c.516G>C|p.Val172Val|516/1443|516/1443|172/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PL	0/1:189,66:255:99:1649,0,5809
chr1	13225325	rs61780077	T	C	1091.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.65;ClippingRankSum=0;DP=188;ExcessHet=3.0103;FS=6.859;MLEAC=1;MLEAF=0.5;MQ=50.35;MQRankSum=-4.942;QD=5.81;ReadPosRankSum=0.942;SOR=1.266;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|2/3|c.396A>G|p.Arg132Arg|444/2125|396/1440|132/479||,C|synonymous_variant|LOW|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|2/3|c.399A>G|p.Arg133Arg|399/1443|399/1443|133/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PL	0/1:142,46:188:99:1120,0,4005
chr1	13225359	rs80264629	A	G	1713.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=8.81;ClippingRankSum=0;DP=159;ExcessHet=3.0103;FS=36.695;MLEAC=1;MLEAF=0.5;MQ=46.42;MQRankSum=-6.53;QD=10.78;ReadPosRankSum=-1.301;SOR=3.038;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|2/3|c.362T>C|p.Leu121Pro|410/2125|362/1440|121/479||,G|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|2/3|c.365T>C|p.Leu122Pro|365/1443|365/1443|122/480||WARNING_TRANSCRIPT_NO_START_CODON;p3_1000G_AA=-|||;p3_1000G_AC=4592;p3_1000G_AF=0.9169328999999999;p3_1000G_AFR_AF=0.9191;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.9553;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs201492352;p3_1000G_DP=12781;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.9314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=13036296;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.8956999999999999;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:102,57:159:99:1742,0,2828
chr1	13225408	rs71279237	T	A	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.761;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=25.375;MLEAC=1;MLEAF=0.5;MQ=40.48;MQRankSum=-2.425;QD=3.61;ReadPosRankSum=-0.01;SOR=4.418;SNP;HET;VARTYPE=SNP;dbSNPBuildID=130;ANN=A|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|2/3|c.313A>T|p.Met105Leu|361/2125|313/1440|105/479||,A|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|2/3|c.316A>T|p.Met106Leu|316/1443|316/1443|106/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PL	0/1:81,20:101:99:393,0,2380
chr1	13225986	rs71233469	C	T	2211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.661;ClippingRankSum=0;DP=179;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.77;MQRankSum=0.782;QD=12.36;ReadPosRankSum=-0.705;SOR=0.701;SNP;HET;VARTYPE=SNP;dbSNPBuildID=130;ANN=T|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.121G>A|p.Val41Met|169/2125|121/1440|41/479||,T|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|1/3|c.124G>A|p.Val42Met|124/1443|124/1443|42/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PL	0/1:87,92:179:99:2240,0,2266
chr1	13226025	rs878934156	G	A	933.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.854;ClippingRankSum=0;DP=143;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.66;MQRankSum=-2.804;QD=6.53;ReadPosRankSum=-0.301;SOR=0.625;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|synonymous_variant|LOW|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.82C>T|p.Leu28Leu|130/2125|82/1440|28/479||,A|synonymous_variant|LOW|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|1/3|c.85C>T|p.Leu29Leu|85/1443|85/1443|29/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PGT:PID:PL	0/1:112,31:143:99:0|1:13226025_G_A:962,0,4599
chr1	13226028	rs879015760	C	T	939.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.259;ClippingRankSum=0;DP=140;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.61;MQRankSum=-2.717;QD=6.71;ReadPosRankSum=-0.537;SOR=0.666;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=T|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.79G>A|p.Val27Ile|127/2125|79/1440|27/479||,T|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|1/3|c.82G>A|p.Val28Ile|82/1443|82/1443|28/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PGT:PID:PL	0/1:109,31:140:99:0|1:13226025_G_A:968,0,4536
chr1	13226052	rs1435146586	T	C	418.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.72;MQRankSum=-4.642;QD=3.3;ReadPosRankSum=0.936;SOR=0.687;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.55A>G|p.Arg19Gly|103/2125|55/1440|19/479||,C|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|1/3|c.58A>G|p.Arg20Gly|58/1443|58/1443|20/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PL	0/1:104,23:127:99:447,0,3117
chr1	13226098	rs1325396426	G	T	404.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.73;ClippingRankSum=0;DP=104;ExcessHet=3.0103;FS=1.122;MLEAC=1;MLEAF=0.5;MQ=57.68;MQRankSum=-6.194;QD=3.89;ReadPosRankSum=-0.717;SOR=0.911;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.9C>A|p.Phe3Leu|57/2125|9/1440|3/479||,T|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|1/3|c.12C>A|p.Phe4Leu|12/1443|12/1443|4/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PGT:PID:PL	0/1:87,17:104:99:0|1:13226098_G_T:433,0,3572
chr1	13226100	rs1315638222	A	G	404.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.57;MQRankSum=-6.213;QD=4.09;ReadPosRankSum=-0.425;SOR=0.733;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.7T>C|p.Phe3Leu|55/2125|7/1440|3/479||,G|missense_variant|MODERATE|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding|1/3|c.10T>C|p.Phe4Leu|10/1443|10/1443|4/480||WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PGT:PID:PL	0/1:84,15:99:99:0|1:13226098_G_T:433,0,3572
chr1	13226110	rs2359078	G	C	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.45;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=1.237;MLEAC=1;MLEAF=0.5;MQ=57.7;MQRankSum=-6.181;QD=3.4;ReadPosRankSum=-0.992;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.-4C>G||||||,C|5_prime_UTR_variant|MODIFIER|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.-4C>G|||||4|,C|upstream_gene_variant|MODIFIER|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding||c.-1C>G|||||1|WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PGT:PID:PL	0/1:79,13:92:99:0|1:13226098_G_T:341,0,3377
chr1	13226138	rs1417308076	G	GAA	95.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.452;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.07;MQRankSum=-8.019;QD=1.29;ReadPosRankSum=-2.211;SOR=0.598;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=GAA|5_prime_UTR_variant|MODIFIER|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding|1/3|c.-34_-33dupTT|||||33|,GAA|upstream_gene_variant|MODIFIER|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding||c.-31_-30dupTT|||||30|WARNING_TRANSCRIPT_NO_START_CODON	GT:AD:DP:GQ:PL	0/1:66,8:74:99:133,0,2712
chr1	13226209	rs879056202	G	A	62.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.473;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.97;MQRankSum=-6.352;QD=1.49;ReadPosRankSum=-0.097;SOR=0.262;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|upstream_gene_variant|MODIFIER|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding||c.-103C>T|||||55|,A|upstream_gene_variant|MODIFIER|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding||c.-100C>T|||||100|WARNING_TRANSCRIPT_NO_START_CODON,A|intergenic_region|MODIFIER|PRAMEF18-PRAMEF5|PRAMEF18-PRAMEF5|intergenic_region|PRAMEF18-PRAMEF5|||n.13226209G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,5:42:91:0|1:13226209_G_A:91,0,1517
chr1	13226215	rs1325344804;rs879235452	A	AAG	104.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.76;MQRankSum=-6.027;QD=2.76;ReadPosRankSum=-0.389;SOR=0.33;INS;HET;VARTYPE=INS;dbSNPBuildID=151,147;ANN=AAG|upstream_gene_variant|MODIFIER|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding||c.-110_-109insCT|||||62|,AAG|upstream_gene_variant|MODIFIER|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding||c.-107_-106insCT|||||107|WARNING_TRANSCRIPT_NO_START_CODON,AAG|intergenic_region|MODIFIER|PRAMEF18-PRAMEF5|PRAMEF18-PRAMEF5|intergenic_region|PRAMEF18-PRAMEF5|||n.13226215_13226216insAG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,5:38:99:0|1:13226209_G_A:142,0,1405
chr1	13226222	rs879240989	T	A	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.922;MLEAC=1;MLEAF=0.5;MQ=57.77;MQRankSum=-5.77;QD=3.51;ReadPosRankSum=-0.637;SOR=0.09;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|upstream_gene_variant|MODIFIER|PRAMEF18|PRAMEF18|transcript|NM_001099850.2|protein_coding||c.-116A>T|||||68|,A|upstream_gene_variant|MODIFIER|PRAMEF22|PRAMEF22|transcript|NM_001100631.1|protein_coding||c.-113A>T|||||113|WARNING_TRANSCRIPT_NO_START_CODON,A|intergenic_region|MODIFIER|PRAMEF18-PRAMEF5|PRAMEF18-PRAMEF5|intergenic_region|PRAMEF18-PRAMEF5|||n.13226222T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,5:35:99:0|1:13226209_G_A:151,0,1284
chr1	13260152	rs1404247914	C	A	762.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.777;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.05;MQRankSum=-1.684;QD=14.39;ReadPosRankSum=-1.2;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201785437;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|PRAMEF5|PRAMEF5|transcript|NM_001013407.2|protein_coding|2/3|c.288-70C>A||||||	GT:AD:DP:GQ:PL	0/1:22,31:53:99:791,0,538
chr1	13260199	rs71224607	T	G	440.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=8.028;MLEAC=1;MLEAF=0.5;MQ=39.42;MQRankSum=-0.136;QD=7.11;ReadPosRankSum=0.119;SOR=0.184;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71224607;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|PRAMEF5|PRAMEF5|transcript|NM_001013407.2|protein_coding|2/3|c.288-23T>G||||||	GT:AD:DP:GQ:PL	0/1:42,20:62:99:469,0,1115
chr1	13260332	rs78425419	A	C	42.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.14;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=11.414;MLEAC=1;MLEAF=0.5;MQ=34.59;MQRankSum=0.514;QD=0.81;ReadPosRankSum=-2.221;SOR=3.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201245174;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|PRAMEF5|PRAMEF5|transcript|NM_001013407.2|protein_coding|3/4|c.398A>C|p.Lys133Thr|498/1855|398/1431|133/476||	GT:AD:DP:GQ:PL	0/1:47,6:53:71:71,0,1271
chr1	13260365	rs58114990	A	G	762.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=2.47;MLEAC=1;MLEAF=0.5;MQ=33.98;MQRankSum=-2.407;QD=23.84;ReadPosRankSum=0.242;SOR=0.359;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199741513;dbSNPBuildID=144;ANN=G|missense_variant|MODERATE|PRAMEF5|PRAMEF5|transcript|NM_001013407.2|protein_coding|3/4|c.431A>G|p.Gln144Arg|531/1855|431/1431|144/476||;p3_1000G_AA=-|||,t|||;p3_1000G_AC=1070;p3_1000G_AF=0.213658;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008,5008;p3_1000G_DEPRECATED_RSID=rs200257916;p3_1000G_DP=9692,12846;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=13111584,13001252;p3_1000G_GRCH37_REF=T,T;p3_1000G_NS=2504,2504;p3_1000G_SAS_AF=0.1984;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP,SNP	GT:AD:DP:GQ:PL	0/1:6,26:32:99:791,0,142
chr1	13260431	rs79683176	G	A	334.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.738;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=7.005;MLEAC=1;MLEAF=0.5;MQ=32.85;MQRankSum=-1.1;QD=13.95;ReadPosRankSum=-2.204;SOR=2.925;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200188871;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|PRAMEF5|PRAMEF5|transcript|NM_001013407.2|protein_coding|3/4|c.497G>A|p.Cys166Tyr|597/1855|497/1431|166/476||	GT:AD:DP:GQ:PL	0/1:11,13:24:99:363,0,333
chr1	13263050	rs2359265	G	A	20.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.77;MQRankSum=-0.674;QD=5.2;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200601438;dbSNPBuildID=147;ANN=A|missense_variant|MODERATE|PRAMEF5|PRAMEF5|transcript|NM_001013407.2|protein_coding|4/4|c.1370G>A|p.Cys457Tyr|1470/1855|1370/1431|457/476||;p3_1000G_AA=c|||,-|||;p3_1000G_AC=13;p3_1000G_AF=0.00259585;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008,5008;p3_1000G_DEPRECATED_RSID=rs572191341,rs200601438;p3_1000G_DP=15721,10783;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=12998566,13108899;p3_1000G_GRCH37_REF=C,C;p3_1000G_NS=2504,2504;p3_1000G_SAS_AF=0;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP,SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:49:49,0,62
chr1	13263194	rs2359052	T	A	131.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.952;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.37;MQRankSum=-2.031;QD=10.98;ReadPosRankSum=0.723;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|PRAMEF5|PRAMEF5|transcript|NM_001013407.2|protein_coding|4/4|c.*83T>A|||||83|	GT:AD:DP:GQ:PL	0/1:6,6:12:99:160,0,156
chr1	13281477	rs1398272141	A	G	107.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=29.61;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF8|PRAMEF8|transcript|NM_001012276.3|protein_coding|4/4|c.1319T>C|p.Leu440Pro|1385/1558|1319/1425|440/474||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:13281477_A_G:135,9,0
chr1	13281482	rs879464995	G	C	107.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=30;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=149;ANN=C|missense_variant|MODERATE|PRAMEF8|PRAMEF8|transcript|NM_001012276.3|protein_coding|4/4|c.1314C>G|p.Asn438Lys|1380/1558|1314/1425|438/474||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:13281477_A_G:135,9,0
chr1	13281530	rs61778323	T	A	64.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.95;QD=21.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=130;ANN=A|synonymous_variant|LOW|PRAMEF8|PRAMEF8|transcript|NM_001012276.3|protein_coding|4/4|c.1266A>T|p.Gly422Gly|1332/1558|1266/1425|422/474||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr1	13281806	rs1891607	C	T	1089.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.155;ClippingRankSum=0;DP=261;ExcessHet=3.0103;FS=5.853;MLEAC=1;MLEAF=0.5;MQ=46.36;MQRankSum=-2.434;QD=4.19;ReadPosRankSum=-0.031;SOR=0.714;SNP;HET;VARTYPE=SNP;dbSNPBuildID=124;ANN=T|synonymous_variant|LOW|PRAMEF8|PRAMEF8|transcript|NM_001012276.3|protein_coding|4/4|c.990G>A|p.Thr330Thr|1056/1558|990/1425|330/474||	GT:AD:DP:GQ:PL	0/1:193,67:260:99:1118,0,5221
chr1	13281951	rs1891608	G	T	191.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.878;ClippingRankSum=0;DP=164;ExcessHet=3.0103;FS=6.052;MLEAC=1;MLEAF=0.5;MQ=38.22;MQRankSum=-2.898;QD=1.17;ReadPosRankSum=1.77;SOR=0.279;SNP;HET;VARTYPE=SNP;dbSNPBuildID=124;ANN=T|intron_variant|MODIFIER|PRAMEF8|PRAMEF8|transcript|NM_001012276.3|protein_coding|3/3|c.864-19C>A||||||	GT:AD:DP:GQ:PL	0/1:139,25:164:99:220,0,3871
chr1	13282737	rs1609643	C	T	166.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.903;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=28.35;MQRankSum=-0.77;QD=7.94;ReadPosRankSum=-0.307;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNPBuildID=124;ANN=T|intron_variant|MODIFIER|PRAMEF8|PRAMEF8|transcript|NM_001012276.3|protein_coding|3/3|c.863+110G>A||||||	GT:AD:DP:GQ:PL	0/1:12,9:21:99:195,0,293
chr1	13306141	rs1273107118	C	A	170.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.914;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=18.479;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=5.89;ReadPosRankSum=1.24;SOR=3.024;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|missense_variant|MODERATE|PRAMEF33P|PRAMEF33P|transcript|NM_001291381.1|protein_coding|2/4|c.187C>A|p.Arg63Ser|260/1518|187/1425|63/474||	GT:AD:DP:GQ:PL	0/1:20,9:29:99:199,0,545
chr1	13306172	rs2637888	C	T	171.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.586;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.887;MLEAC=1;MLEAF=0.5;MQ=28.02;MQRankSum=1.33;QD=8.59;ReadPosRankSum=0.552;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|PRAMEF33P|PRAMEF33P|transcript|NM_001291381.1|protein_coding|2/4|c.218C>T|p.Pro73Leu|291/1518|218/1425|73/474||	GT:AD:DP:GQ:PL	0/1:12,8:20:99:200,0,321
chr1	13306635	rs1461038843	T	C	301.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29;QD=30.18;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|splice_region_variant&intron_variant|LOW|PRAMEF33P|PRAMEF33P|transcript|NM_001291381.1|protein_coding|2/3|c.288-3T>C||||||	GT:AD:DP:GQ:PL	1/1:0,10:10:30:330,30,0
chr1	13306667	rs1428094803	A	G	387.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.24;QD=27.7;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF33P|PRAMEF33P|transcript|NM_001291381.1|protein_coding|3/4|c.317A>G|p.Gln106Arg|390/1518|317/1425|106/474||	GT:AD:DP:GQ:PL	1/1:0,14:14:42:416,42,0
chr1	13307108	rs1343154326	G	A	80.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=11.761;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.842;SOR=3.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|stop_gained|HIGH|PRAMEF33P|PRAMEF33P|transcript|NM_001291381.1|protein_coding|3/4|c.758G>A|p.Trp253*|831/1518|758/1425|253/474||;LOF=(PRAMEF33P|PRAMEF33P|1|1.00);NMD=(PRAMEF33P|PRAMEF33P|1|1.00)	GT:AD:DP:GQ:PL	0/1:2,4:6:45:109,0,45
chr1	13307338	rs2790798	G	A	135.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.264;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.742;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PRAMEF33P|PRAMEF33P|transcript|NM_001291381.1|protein_coding|3/3|c.866+122G>A||||||	GT:AD:DP:GQ:PL	0/1:3,7:10:51:164,0,51
chr1	13308331	rs866085728	A	G	30.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.04;MQRankSum=-2.574;QD=1.47;ReadPosRankSum=-1.91;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202170459,rs202107783;dbSNPBuildID=147;ANN=G|missense_variant&splice_region_variant|MODERATE|PRAMEF33P|PRAMEF33P|transcript|NM_001291381.1|protein_coding|4/4|c.869A>G|p.Tyr290Cys|942/1518|869/1425|290/474||	GT:AD:DP:GQ:PL	0/1:17,4:21:59:59,0,420
chr1	13318367	rs1257664960	C	T	1372.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.33;QD=31.92;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|PRAMEF15|PRAMEF15|transcript|NM_001098376.2|protein_coding|1/3|c.-16-25C>T||||||	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1401,129,0
chr1	13318768	rs1368050602	T	A	38.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.682;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.64;MQRankSum=0.536;QD=1.94;ReadPosRankSum=0.249;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|PRAMEF15|PRAMEF15|transcript|NM_001098376.2|protein_coding|2/3|c.293+68T>A||||||	GT:AD:DP:GQ:PL	0/1:16,4:20:67:67,0,428
chr1	13319304	rs568981539	C	G	950.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.58;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=11.041;MLEAC=1;MLEAF=0.5;MQ=59.59;MQRankSum=-2;QD=16.68;ReadPosRankSum=0.722;SOR=2.527;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|PRAMEF15|PRAMEF15|transcript|NM_001098376.2|protein_coding|2/3|c.294-68C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=66;p3_1000G_AF=0.0131789;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=11149;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13645696;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,29:57:99:979,0,865
chr1	13342520	rs6700521	C	T	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.136;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.897;MLEAC=1;MLEAF=0.5;MQ=57.77;MQRankSum=-1.935;QD=10.44;ReadPosRankSum=-0.168;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370590461,rs201889405;dbSNPBuildID=116;ANN=T|3_prime_UTR_variant|MODIFIER|PRAMEF14|PRAMEF14|transcript|NM_001024661.2|protein_coding|4/4|c.*8G>A|||||8|	GT:AD:DP:GQ:PL	0/1:12,10:22:99:258,0,327
chr1	13342758	rs3125075	A	G	1265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=0.754;MLEAC=1;MLEAF=0.5;MQ=53.55;MQRankSum=-7.183;QD=12.53;ReadPosRankSum=1.24;SOR=0.825;SNP;HET;VARTYPE=SNP;dbSNPBuildID=103;ANN=G|missense_variant|MODERATE|PRAMEF14|PRAMEF14|transcript|NM_001024661.2|protein_coding|4/4|c.1195T>C|p.Cys399Arg|1298/2164|1195/1425|399/474||	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1294,0,1251
chr1	13344310	rs61778605	T	C	1479.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=112;ExcessHet=3.0103;FS=1.49;MLEAC=1;MLEAF=0.5;MQ=52.57;MQRankSum=-5.217;QD=13.21;ReadPosRankSum=0.039;SOR=0.56;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|PRAMEF14|PRAMEF14|transcript|NM_001024661.2|protein_coding|3/4|c.594A>G|p.Ser198Ser|697/2164|594/1425|198/474||	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1508,0,1288
chr1	13369246	rs1286207864	T	C	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=130;ExcessHet=3.0103;FS=4.854;MLEAC=1;MLEAF=0.5;MQ=56.45;MQRankSum=-7.353;QD=3.7;ReadPosRankSum=0.92;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|missense_variant|MODERATE|PRAMEF19|PRAMEF19|transcript|NM_001099790.2|protein_coding|3/3|c.1261A>G|p.Asn421Asp|1308/2123|1261/1440|421/479||	GT:AD:DP:GQ:PGT:PID:PL	0/1:110,20:130:99:0|1:13369246_T_C:509,0,6461
chr1	13369247	rs1359438724	G	A	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.184;ClippingRankSum=0;DP=129;ExcessHet=3.0103;FS=4.829;MLEAC=1;MLEAF=0.5;MQ=56.42;MQRankSum=-7.32;QD=3.73;ReadPosRankSum=0.768;SOR=1.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202072384;dbSNPBuildID=151;ANN=A|synonymous_variant|LOW|PRAMEF19|PRAMEF19|transcript|NM_001099790.2|protein_coding|3/3|c.1260C>T|p.Asp420Asp|1307/2123|1260/1440|420/479||	GT:AD:DP:GQ:PGT:PID:PL	0/1:109,20:129:99:0|1:13369246_T_C:509,0,6461
chr1	13369358	rs12123444	G	A	251.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.472;ClippingRankSum=0;DP=167;ExcessHet=3.0103;FS=0.79;MLEAC=1;MLEAF=0.5;MQ=56.87;MQRankSum=-11.93;QD=1.51;ReadPosRankSum=0.972;SOR=0.799;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148990958;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|PRAMEF19|PRAMEF19|transcript|NM_001099790.2|protein_coding|3/3|c.1149C>T|p.Cys383Cys|1196/2123|1149/1440|383/479||	GT:AD:DP:GQ:PL	0/1:141,26:167:99:280,0,4265
chr1	13369384	rs780798639	G	A	311.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.486;ClippingRankSum=0;DP=168;ExcessHet=3.0103;FS=6.495;MLEAC=1;MLEAF=0.5;MQ=55.58;MQRankSum=-10.92;QD=1.86;ReadPosRankSum=0.013;SOR=1.311;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|PRAMEF19|PRAMEF19|transcript|NM_001099790.2|protein_coding|3/3|c.1123C>T|p.Arg375Cys|1170/2123|1123/1440|375/479||	GT:AD:DP:GQ:PL	0/1:139,29:168:99:340,0,3841
chr1	13369423	rs1327551446	C	G	246.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.728;ClippingRankSum=0;DP=147;ExcessHet=3.0103;FS=1.806;MLEAC=1;MLEAF=0.5;MQ=55.24;MQRankSum=-9.946;QD=1.7;ReadPosRankSum=-0.078;SOR=0.913;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF19|PRAMEF19|transcript|NM_001099790.2|protein_coding|3/3|c.1084G>C|p.Gly362Arg|1131/2123|1084/1440|362/479||	GT:AD:DP:GQ:PL	0/1:120,25:145:99:275,0,3476
chr1	13371202	rs2743967	T	A	213.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.843;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=10.202;MLEAC=1;MLEAF=0.5;MQ=43.89;MQRankSum=-4.584;QD=1.98;ReadPosRankSum=-0.131;SOR=0.19;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=A|missense_variant|MODERATE|PRAMEF19|PRAMEF19|transcript|NM_001099790.2|protein_coding|2/3|c.313A>T|p.Met105Leu|360/2123|313/1440|105/479||	GT:AD:DP:GQ:PL	0/1:84,24:108:99:242,0,2265
chr1	13371308	rs1335085814	T	C	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.92;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.79;MQRankSum=-1.678;QD=0.54;ReadPosRankSum=1.42;SOR=0.054;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|PRAMEF19|PRAMEF19|transcript|NM_001099790.2|protein_coding|1/2|c.288-81A>G||||||	GT:AD:DP:GQ:PL	0/1:16,3:19:38:38,0,535
chr1	13371759	rs1175110892	A	G	950.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.35;QD=33.96;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|PRAMEF19|PRAMEF19|transcript|NM_001099790.2|protein_coding|1/3|c.142T>C|p.Cys48Arg|189/2123|142/1440|48/479||	GT:AD:DP:GQ:PL	1/1:0,28:28:84:979,84,0
chr1	13392592	rs4662136	T	G	446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs141370897;dbSNPBuildID=120;ANN=G|3_prime_UTR_variant|MODIFIER|PRAMEF17|PRAMEF17|transcript|NM_001099851.3|protein_coding|3/3|c.*90T>G|||||90|;p3_1000G_AA=t|||;p3_1000G_AC=1695;p3_1000G_AF=0.338458;p3_1000G_AFR_AF=0.3086;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs141370897;p3_1000G_DP=16189;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13719052;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:475,45,0
chr1	13418237	rs199886862	C	G	1663.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.379;ClippingRankSum=0;DP=139;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.28;SOR=0.688;SNP;HET;VARTYPE=SNP;dbSNPBuildID=137;ANN=G|missense_variant|MODERATE|PRAMEF20|PRAMEF20|transcript|NM_001099852.2|protein_coding|3/4|c.403C>G|p.Leu135Val|502/1597|403/1428|135/475||	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1692,0,1922
chr1	13421192	rs34262621	C	T	1092.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.213;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.704;SOR=0.567;SNP;HET;VARTYPE=SNP;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|PRAMEF20|PRAMEF20|transcript|NM_001099852.2|protein_coding|4/4|c.1362C>T|p.Thr454Thr|1461/1597|1362/1428|454/475||	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1121,0,967
chr1	13421340	rs1039444246	G	T	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.653;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.736;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|downstream_gene_variant|MODIFIER|PRAMEF20|PRAMEF20|transcript|NM_001099852.2|protein_coding||c.*82G>T|||||12|,T|intergenic_region|MODIFIER|PRAMEF20-LRRC38|PRAMEF20-LRRC38|intergenic_region|PRAMEF20-LRRC38|||n.13421340G>T||||||	GT:AD:DP:GQ:PL	0/1:8,6:14:99:197,0,264
chr1	13475756	rs3795750	G	A	297.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795750;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|LRRC38|LRRC38|transcript|NM_001010847.1|protein_coding|2/2|c.*90C>T|||||90|;p3_1000G_AA=G|||;p3_1000G_AC=1742;p3_1000G_AF=0.347843;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=21081;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13802224;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:326,27,0
chr1	13475857	rs3013105	T	C	821.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3013105;dbSNPBuildID=101;ANN=C|missense_variant|MODERATE|LRRC38|LRRC38|transcript|NM_001010847.1|protein_coding|2/2|c.874A>G|p.Lys292Glu|1028/1908|874/885|292/294||;p3_1000G_AA=C|||;p3_1000G_AC=2314;p3_1000G_AF=0.462061;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=20308;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.3837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13802325;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:75:1|1:13475857_T_C:850,75,0
chr1	13475969	rs3013106	G	A	698.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.242;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=0.66;SOR=0.679;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3013106;dbSNPBuildID=101;ANN=A|synonymous_variant|LOW|LRRC38|LRRC38|transcript|NM_001010847.1|protein_coding|2/2|c.762C>T|p.Ser254Ser|916/1908|762/885|254/294||;p3_1000G_AA=G|||;p3_1000G_AC=1626;p3_1000G_AF=0.324681;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=19646;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13802437;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,26:42:99:727,0,338
chr1	13583922	rs355025	C	T	1589.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=1.39;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs355025;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|PDPN|PDPN|transcript|NM_006474.4|protein_coding|1/6|c.117C>T|p.Pro39Pro|166/2812|117/717|39/238||,T|synonymous_variant|LOW|PDPN|PDPN|transcript|NM_198389.2|protein_coding|1/6|c.117C>T|p.Pro39Pro|166/2806|117/711|39/236||,T|upstream_gene_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006624.1|protein_coding||c.-23310C>T|||||1550|,T|upstream_gene_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006625.1|protein_coding||c.-23310C>T|||||1550|;p3_1000G_AA=c|||;p3_1000G_AC=2820;p3_1000G_AF=0.563099;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=11983;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.329;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13910417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2451,1947;ESP6500_AA_GTC=691,1069,439;ESP6500_CDS_SIZES=NM_198389.2:711,NM_006474.4:717;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=20;ESP6500_EA_AC=2817,5771;ESP6500_EA_GTC=465,1887,1942;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198389.2:coding-synonymous,NM_006474.4:coding-synonymous;ESP6500_GL=PDPN;ESP6500_GRCh38_POSITION=1:13583922;ESP6500_GTC=1156,2956,2381;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198389.2:c.117C>T,NM_006474.4:c.117C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198389.2:p.(P39),NM_006474.4:p.(P39);ESP6500_MAF=32.8016,44.2701,40.5668;ESP6500_TAC=5268,7718	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1618,150,0
chr1	13584186	rs4661725	G	C	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.235;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-0.222;SOR=0.397;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661725;dbSNPBuildID=111;ANN=C|sequence_feature|LOW|PDPN|PDPN|topological-domain:Extracellular|NM_198389.2|protein_coding|1/5|c.295+86G>C||||||,C|upstream_gene_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006624.1|protein_coding||c.-23046G>C|||||1286|,C|upstream_gene_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006625.1|protein_coding||c.-23046G>C|||||1286|,C|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_006474.4|protein_coding|1/5|c.295+86G>C||||||,C|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_198389.2|protein_coding|1/5|c.295+86G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=194;p3_1000G_AF=0.038738;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=14456;p3_1000G_EAS_AF=0.0179;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13910681;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,16:27:99:457,0,310
chr1	13584246	rs150088145;rs3217646;rs70984261;rs760512140	CGGA	C	177.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.696;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0;SOR=1.075;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs70984261,rs3217646,rs150088145;dbSNPBuildID=134,144,106,130;ANN=C|sequence_feature|LOW|PDPN|PDPN|topological-domain:Extracellular|NM_198389.2|protein_coding|1/5|c.295+147_295+149delGGA||||||,C|upstream_gene_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006624.1|protein_coding||c.-22985_-22983delGGA|||||1225|,C|upstream_gene_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006625.1|protein_coding||c.-22985_-22983delGGA|||||1225|,C|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_006474.4|protein_coding|1/5|c.295+154_295+156delGAG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_198389.2|protein_coding|1/5|c.295+154_295+156delGAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1271;p3_1000G_AF=0.253794;p3_1000G_AFR_AF=0.3843;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=14770;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.1809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13910741;p3_1000G_GRCH37_REF=CGGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,6:15:99:215,0,360
chr1	13610327	rs404658	G	T	667.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs404658;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_006474.4|protein_coding|2/5|c.430-60G>T||||||,T|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_198389.2|protein_coding|2/5|c.430-60G>T||||||,T|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006624.1|protein_coding|2/5|c.76-60G>T||||||,T|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006625.1|protein_coding|2/5|c.76-60G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3395;p3_1000G_AF=0.677915;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=19457;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13936822;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:696,69,0
chr1	13610594	rs2487643	G	T	656.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2487643;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_006474.4|protein_coding|3/5|c.559+78G>T||||||,T|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_198389.2|protein_coding|3/5|c.559+78G>T||||||,T|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006624.1|protein_coding|3/5|c.205+78G>T||||||,T|intron_variant|MODIFIER|PDPN|PDPN|transcript|NM_001006625.1|protein_coding|3/5|c.205+78G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3314;p3_1000G_AF=0.661741;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=20164;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.671;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13937089;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:685,66,0
chr1	13614369	rs2486188	C	G	1842.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2486188;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|PDPN|PDPN|transcript|NM_006474.4|protein_coding|5/6|c.668C>G|p.Ala223Gly|717/2812|668/717|223/238||,G|missense_variant|MODERATE|PDPN|PDPN|transcript|NM_198389.2|protein_coding|5/6|c.668C>G|p.Ala223Gly|717/2806|668/711|223/236||,G|missense_variant|MODERATE|PDPN|PDPN|transcript|NM_001006624.1|protein_coding|5/6|c.314C>G|p.Ala105Gly|541/2636|314/363|105/120||,G|missense_variant|MODERATE|PDPN|PDPN|transcript|NM_001006625.1|protein_coding|5/6|c.314C>G|p.Ala105Gly|541/2630|314/357|105/118||;p3_1000G_AA=G|||;p3_1000G_AC=4915;p3_1000G_AF=0.98143;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=17966;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13940864;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4364,42;ESP6500_AA_AGE=46.0+/-80.4;ESP6500_AA_GTC=2161,42,0;ESP6500_CDS_SIZES=NM_198389.2:711,NM_006474.4:717,NM_001006625.1:357,NM_001006624.1:363;ESP6500_CG=5.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=189;ESP6500_EA_AC=8211,389;ESP6500_EA_AGE=125.0+/-183.6;ESP6500_EA_GTC=3923,365,12;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198389.2:missense,NM_006474.4:missense,NM_001006625.1:missense,NM_001006624.1:missense;ESP6500_GL=PDPN;ESP6500_GRCh38_POSITION=1:13614369;ESP6500_GS=60,60,60,60;ESP6500_GTC=6084,407,12;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_198389.2:c.668C>G,NM_006474.4:c.668C>G,NM_001006625.1:c.314C>G,NM_001006624.1:c.314C>G;ESP6500_HGVS_PROTEIN_VAR=NM_198389.2:p.(A223G),NM_006474.4:p.(A223G),NM_001006625.1:p.(A105G),NM_001006624.1:p.(A105G);ESP6500_MAF=4.5233,0.9532,3.3139;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12575,431	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1871,177,0
chr1	13773268	rs10803426	C	T	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.014;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-0.763;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10803426;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_012231.4|protein_coding|7/9|c.622+80C>T||||||,T|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_001135610.1|protein_coding|6/7|c.511+23781C>T||||||,T|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_015866.4|protein_coding|7/8|c.622+80C>T||||||,T|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_001007257.2|protein_coding|2/3|c.19+80C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1591;p3_1000G_AF=0.317692;p3_1000G_AFR_AF=0.2005;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=16615;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.3111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14099763;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=310,1074;ESP6500_AA_GTC=40,230,422;ESP6500_CDS_SIZES=NM_015866.4:5049,NM_012231.4:5157,NM_001135610.1:681,NM_001007257.2:4446;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=137;ESP6500_EA_AC=1071,2111;ESP6500_EA_GTC=172,727,692;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015866.4:intron,NM_012231.4:intron,NM_001135610.1:intron,NM_001007257.2:intron;ESP6500_GL=PRDM2;ESP6500_GRCh38_POSITION=1:13773268;ESP6500_GTC=212,957,1114;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015866.4:c.622+80C>T,NM_012231.4:c.622+80C>T,NM_001135610.1:c.511+23781C>T,NM_001007257.2:c.19+80C>T;ESP6500_MAF=33.6581,22.3988,30.2453;ESP6500_TAC=1381,3185	GT:AD:DP:GQ:PL	0/1:7,7:14:99:165,0,216
chr1	13778644	rs2076324	T	A	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.701;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076324;dbSNPBuildID=96;ANN=A|missense_variant|MODERATE|PRDM2|PRDM2|transcript|NM_012231.4|protein_coding|8/10|c.849T>A|p.Asp283Glu|1705/7957|849/5157|283/1718||,A|missense_variant|MODERATE|PRDM2|PRDM2|transcript|NM_015866.4|protein_coding|8/9|c.849T>A|p.Asp283Glu|1705/7457|849/5049|283/1682||,A|missense_variant|MODERATE|PRDM2|PRDM2|transcript|NM_001007257.2|protein_coding|3/4|c.246T>A|p.Asp82Glu|445/6197|246/4446|82/1481||,A|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_001135610.1|protein_coding|6/7|c.511+29157T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1859;p3_1000G_AF=0.371206;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=20316;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.327;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14105139;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1104,3302;ESP6500_AA_AGE=717.2+/-408.7;ESP6500_AA_GTC=142,820,1241;ESP6500_CDS_SIZES=NM_015866.4:5049,NM_012231.4:5157,NM_001135610.1:681,NM_001007257.2:4446;ESP6500_CG=-3.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=63;ESP6500_EA_AC=3066,5534;ESP6500_EA_AGE=652.7+/-401.0;ESP6500_EA_GTC=525,2016,1759;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015866.4:missense,NM_012231.4:missense,NM_001135610.1:intron,NM_001007257.2:missense;ESP6500_GL=PRDM2;ESP6500_GRCh38_POSITION=1:13778644;ESP6500_GS=45,45,.,45;ESP6500_GTC=667,2836,3000;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_015866.4:c.849T>A,NM_012231.4:c.849T>A,NM_001135610.1:c.511+29157T>A,NM_001007257.2:c.246T>A;ESP6500_HGVS_PROTEIN_VAR=NM_015866.4:p.(D283E),NM_012231.4:p.(D283E),.,NM_001007257.2:p.(D82E);ESP6500_MAF=35.6512,25.0567,32.0621;ESP6500_PH=benign:0.005,benign:0.005,.,benign:0.005;ESP6500_TAC=4170,8836	GT:AD:DP:GQ:PL	0/1:15,10:25:99:278,0,373
chr1	13778803	rs1203678	G	A	1064.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.291;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0.976;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=-1.823;SOR=0.526;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1203678;dbSNPBuildID=87;ANN=A|synonymous_variant|LOW|PRDM2|PRDM2|transcript|NM_012231.4|protein_coding|8/10|c.1008G>A|p.Glu336Glu|1864/7957|1008/5157|336/1718||,A|synonymous_variant|LOW|PRDM2|PRDM2|transcript|NM_015866.4|protein_coding|8/9|c.1008G>A|p.Glu336Glu|1864/7457|1008/5049|336/1682||,A|synonymous_variant|LOW|PRDM2|PRDM2|transcript|NM_001007257.2|protein_coding|3/4|c.405G>A|p.Glu135Glu|604/6197|405/4446|135/1481||,A|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_001135610.1|protein_coding|6/7|c.511+29316G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1584;p3_1000G_AF=0.316294;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=20390;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.3101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14105298;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1073,3333;ESP6500_AA_AGE=388.6+/-327.0;ESP6500_AA_GTC=130,813,1260;ESP6500_CDS_SIZES=NM_015866.4:5049,NM_012231.4:5157,NM_001135610.1:681,NM_001007257.2:4446;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=96;ESP6500_EA_AC=2964,5636;ESP6500_EA_AGE=460.9+/-365.3;ESP6500_EA_GTC=475,2014,1811;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015866.4:coding-synonymous,NM_012231.4:coding-synonymous,NM_001135610.1:intron,NM_001007257.2:coding-synonymous;ESP6500_GL=PRDM2;ESP6500_GRCh38_POSITION=1:13778803;ESP6500_GTC=605,2827,3071;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015866.4:c.1008G>A,NM_012231.4:c.1008G>A,NM_001135610.1:c.511+29316G>A,NM_001007257.2:c.405G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015866.4:p.(E336),NM_012231.4:p.(E336),.,NM_001007257.2:p.(E135);ESP6500_MAF=34.4651,24.3532,31.0395;ESP6500_TAC=4037,8969	GT:AD:DP:GQ:PL	0/1:25,40:65:99:1093,0,642
chr1	13779899	rs2308040;rs59028030	A	ACTC	1139.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.995;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=4.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.264;SOR=1.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs2308040,rs59028030;dbSNPBuildID=100,138;ANN=ACTC|conservative_inframe_insertion|MODERATE|PRDM2|PRDM2|transcript|NM_012231.4|protein_coding|8/10|c.2107_2109dupCCT|p.Pro703dup|2966/7957|2110/5157|704/1718||INFO_REALIGN_3_PRIME,ACTC|conservative_inframe_insertion|MODERATE|PRDM2|PRDM2|transcript|NM_015866.4|protein_coding|8/9|c.2107_2109dupCCT|p.Pro703dup|2966/7457|2110/5049|704/1682||INFO_REALIGN_3_PRIME,ACTC|conservative_inframe_insertion|MODERATE|PRDM2|PRDM2|transcript|NM_001007257.2|protein_coding|3/4|c.1504_1506dupCCT|p.Pro502dup|1706/6197|1507/4446|503/1481||INFO_REALIGN_3_PRIME,ACTC|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_001135610.1|protein_coding|6/7|c.511+30415_511+30417dupCCT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=2438,1826;ESP6500_AA_GTC=699,1040,393;ESP6500_CDS_SIZES=NM_015866.4:5049,NM_012231.4:5157,NM_001135610.1:681,NM_001007257.2:4446;ESP6500_CG=0.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=3443,4811;ESP6500_EA_GTC=676,2091,1360;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015866.4:coding,NM_012231.4:coding,NM_001135610.1:intron,NM_001007257.2:coding;ESP6500_GL=PRDM2;ESP6500_GRCh38_POSITION=1:13779899;ESP6500_GTC=1375,3131,1753;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015866.4:c.2104_2105insCTC,NM_012231.4:c.2104_2105insCTC,NM_001135610.1:c.511+30412_511+30413insCTC,NM_001007257.2:c.1501_1502insCTC;ESP6500_HGVS_PROTEIN_VAR=NM_015866.4:p.(T702delinsTP),NM_012231.4:p.(T702delinsTP),.,NM_001007257.2:p.(T501delinsTP);ESP6500_MAF=41.7131,42.8236,46.9803;ESP6500_TAC=5881,6637	GT:AD:DP:GQ:PL	0/1:45,32:77:99:1177,0,2018
chr1	13782619	rs1203651	A	G	834.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.989;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.157;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.476;SOR=0.444;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1203651;dbSNPBuildID=87;ANN=G|synonymous_variant|LOW|PRDM2|PRDM2|transcript|NM_012231.4|protein_coding|8/10|c.4824A>G|p.Ser1608Ser|5680/7957|4824/5157|1608/1718||,G|synonymous_variant|LOW|PRDM2|PRDM2|transcript|NM_015866.4|protein_coding|8/9|c.4824A>G|p.Ser1608Ser|5680/7457|4824/5049|1608/1682||,G|synonymous_variant|LOW|PRDM2|PRDM2|transcript|NM_001007257.2|protein_coding|3/4|c.4221A>G|p.Ser1407Ser|4420/6197|4221/4446|1407/1481||,G|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_001135610.1|protein_coding|6/7|c.511+33132A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1828;p3_1000G_AF=0.365016;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=20761;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14109114;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1163,3243;ESP6500_AA_AGE=713.4+/-408.2;ESP6500_AA_GTC=156,851,1196;ESP6500_CDS_SIZES=NM_015866.4:5049,NM_012231.4:5157,NM_001135610.1:681,NM_001007257.2:4446;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=73;ESP6500_EA_AC=3140,5460;ESP6500_EA_AGE=656.3+/-401.3;ESP6500_EA_GTC=533,2074,1693;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015866.4:coding-synonymous,NM_012231.4:coding-synonymous,NM_001135610.1:intron,NM_001007257.2:coding-synonymous;ESP6500_GL=PRDM2;ESP6500_GRCh38_POSITION=1:13782619;ESP6500_GTC=689,2925,2889;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015866.4:c.4824A>G,NM_012231.4:c.4824A>G,NM_001135610.1:c.511+33132A>G,NM_001007257.2:c.4221A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015866.4:p.(S1608),NM_012231.4:p.(S1608),.,NM_001007257.2:p.(S1407);ESP6500_MAF=36.5116,26.3958,33.0847;ESP6500_TAC=4303,8703	GT:AD:DP:GQ:PL	0/1:27,33:60:99:863,0,633
chr1	13782913	rs35153743;rs755371169	CT	C	44.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=0.231;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35153743;dbSNPBuildID=144,126;ANN=C|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_012231.4|protein_coding|8/9|c.5036+98delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_001135610.1|protein_coding|6/7|c.511+33442delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_015866.4|protein_coding|8/8|c.5036+98delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PRDM2|PRDM2|transcript|NM_001007257.2|protein_coding|3/3|c.4433+98delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,5:9:57:82,0,57
chr1	14960672	rs41301991	C	T	1478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.337;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=0.788;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41301991;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|1/14|c.227-12C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_015209.2|protein_coding|1/7|c.227-12C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|1/7|c.209-12C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|1/7|c.-56-12C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|1/7|c.-56-12C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=231;p3_1000G_AF=0.0461262;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=22321;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15287168;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=17,4377;ESP6500_AA_GTC=0,17,2180;ESP6500_CDS_SIZES=NM_201628.2:2328,NM_015209.2:1266,NM_001018001.2:984,NM_001018000.3:1248,NM_001017999.2:984;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=33;ESP6500_EA_AC=208,8354;ESP6500_EA_GTC=4,200,4077;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201628.2:intron,NM_015209.2:intron,NM_001018001.2:intron,NM_001018000.3:intron,NM_001017999.2:intron;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:14960672;ESP6500_GTC=4,217,6257;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.227-12C>T,NM_015209.2:c.227-12C>T,NM_001018001.2:c.-68C>T,NM_001018000.3:c.209-12C>T,NM_001017999.2:c.-68C>T;ESP6500_MAF=2.4293,0.3869,1.7366;ESP6500_TAC=225,12731	GT:AD:DP:GQ:PL	0/1:27,54:81:99:1507,0,616
chr1	15043962	rs41310369	G	C	635.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.013;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=8.659;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.345;SOR=1.018;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41310369;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|3/14|c.556-27G>C||||||,C|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_015209.2|protein_coding|3/7|c.556-27G>C||||||,C|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|3/7|c.538-27G>C||||||,C|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|3/7|c.274-27G>C||||||,C|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|3/7|c.274-27G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=299;p3_1000G_AF=0.0597045;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=14663;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0.1074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15370458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=147,4239;ESP6500_AA_GTC=5,137,2051;ESP6500_CDS_SIZES=NM_201628.2:2328,NM_015209.2:1266,NM_001018001.2:984,NM_001018000.3:1248,NM_001017999.2:984;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=22;ESP6500_EA_AC=876,7702;ESP6500_EA_GTC=50,776,3463;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201628.2:intron,NM_015209.2:intron,NM_001018001.2:intron,NM_001018000.3:intron,NM_001017999.2:intron;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:15043962;ESP6500_GTC=55,913,5514;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.556-27G>C,NM_015209.2:c.556-27G>C,NM_001018001.2:c.274-27G>C,NM_001018000.3:c.538-27G>C,NM_001017999.2:c.274-27G>C;ESP6500_MAF=10.2122,3.3516,7.8911;ESP6500_TAC=1023,11941	GT:AD:DP:GQ:PL	0/1:19,26:45:99:664,0,450
chr1	15056171	rs2076570	T	C	1172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.776;SOR=0.664;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076570;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|KAZN|KAZN|transcript|NM_201628.2|protein_coding|5/15|c.807T>C|p.Asn269Asn|1088/6022|807/2328|269/775||,C|synonymous_variant|LOW|KAZN|KAZN|transcript|NM_015209.2|protein_coding|5/8|c.807T>C|p.Asn269Asn|1088/3905|807/1266|269/421||,C|synonymous_variant|LOW|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|5/8|c.789T>C|p.Asn263Asn|1025/3842|789/1248|263/415||,C|synonymous_variant|LOW|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|5/8|c.525T>C|p.Asn175Asn|826/3643|525/984|175/327||,C|synonymous_variant|LOW|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|5/8|c.525T>C|p.Asn175Asn|836/3653|525/984|175/327||;p3_1000G_AA=C|||;p3_1000G_AC=190;p3_1000G_AF=0.0379393;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=19818;p3_1000G_EAS_AF=0.0675;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15382667;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=110,4296;ESP6500_AA_AGE=816.4+/-416.2;ESP6500_AA_GTC=1,108,2094;ESP6500_CDS_SIZES=NM_201628.2:2328,NM_015209.2:1266,NM_001018001.2:984,NM_001018000.3:1248,NM_001017999.2:984;ESP6500_CG=-1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=69;ESP6500_EA_AC=39,8561;ESP6500_EA_AGE=817.5+/-406.9;ESP6500_EA_GTC=0,39,4261;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201628.2:coding-synonymous,NM_015209.2:coding-synonymous,NM_001018001.2:coding-synonymous,NM_001018000.3:coding-synonymous,NM_001017999.2:coding-synonymous;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:15056171;ESP6500_GTC=1,147,6355;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.807T>C,NM_015209.2:c.807T>C,NM_001018001.2:c.525T>C,NM_001018000.3:c.789T>C,NM_001017999.2:c.525T>C;ESP6500_HGVS_PROTEIN_VAR=NM_201628.2:p.(N269),NM_015209.2:p.(N269),NM_001018001.2:p.(N175),NM_001018000.3:p.(N263),NM_001017999.2:p.(N175);ESP6500_MAF=0.4535,2.4966,1.1456;ESP6500_TAC=149,12857	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1201,0,1295
chr1	15056312	rs2076569	G	A	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.792;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.391;SOR=1.091;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076569;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|5/14|c.916+32G>A||||||,A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_015209.2|protein_coding|5/7|c.916+32G>A||||||,A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|5/7|c.898+32G>A||||||,A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|5/7|c.634+32G>A||||||,A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|5/7|c.634+32G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17754;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15382808;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=89,4307;ESP6500_AA_GTC=0,89,2109;ESP6500_CDS_SIZES=NM_201628.2:2328,NM_015209.2:1266,NM_001018001.2:984,NM_001018000.3:1248,NM_001017999.2:984;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=13;ESP6500_EA_AC=0,8592;ESP6500_EA_GTC=0,0,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201628.2:intron,NM_015209.2:intron,NM_001018001.2:intron,NM_001018000.3:intron,NM_001017999.2:intron;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:15056312;ESP6500_GTC=0,89,6405;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.916+32G>A,NM_015209.2:c.916+32G>A,NM_001018001.2:c.634+32G>A,NM_001018000.3:c.898+32G>A,NM_001017999.2:c.634+32G>A;ESP6500_MAF=0.0,2.0246,0.6852;ESP6500_TAC=89,12899	GT:AD:DP:GQ:PL	0/1:17,15:32:99:428,0,557
chr1	15063503	rs138293108	C	T	905.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.106;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=4.763;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-1.21;SOR=0.252;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138293108;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|6/14|c.1048-69C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_015209.2|protein_coding|6/7|c.1048-69C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|6/7|c.1030-69C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|6/7|c.766-69C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|6/7|c.766-69C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=16904;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15389999;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4,1380;ESP6500_AA_GTC=0,4,688;ESP6500_CDS_SIZES=NM_201628.2:2328,NM_015209.2:1266,NM_001018001.2:984,NM_001018000.3:1248,NM_001017999.2:984;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=35;ESP6500_EA_AC=34,3148;ESP6500_EA_GTC=0,34,1557;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201628.2:intron,NM_015209.2:intron,NM_001018001.2:intron,NM_001018000.3:intron,NM_001017999.2:intron;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:15063503;ESP6500_GTC=0,38,2245;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.1048-69C>T,NM_015209.2:c.1048-69C>T,NM_001018001.2:c.766-69C>T,NM_001018000.3:c.1030-69C>T,NM_001017999.2:c.766-69C>T;ESP6500_MAF=1.0685,0.289,0.8322;ESP6500_TAC=38,4528	GT:AD:DP:GQ:PL	0/1:19,34:53:99:934,0,530
chr1	15063649	rs2076565	A	G	3325.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=0.979;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076565;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|7/14|c.1098+27A>G||||||,G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_015209.2|protein_coding|7/7|c.1098+27A>G||||||,G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|7/7|c.1080+27A>G||||||,G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|7/7|c.816+27A>G||||||,G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|7/7|c.816+27A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2305;p3_1000G_AF=0.460264;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=19522;p3_1000G_EAS_AF=0.7133;p3_1000G_EUR_AF=0.2406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15390145;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2601,1805;ESP6500_AA_AGE=530.1+/-372.8;ESP6500_AA_GTC=766,1069,368;ESP6500_CDS_SIZES=NM_201628.2:2328,NM_015209.2:1266,NM_001018001.2:984,NM_001018000.3:1248,NM_001017999.2:984;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=86;ESP6500_EA_AC=2014,6586;ESP6500_EA_AGE=720.0+/-406.3;ESP6500_EA_GTC=238,1538,2524;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201628.2:intron,NM_015209.2:intron,NM_001018001.2:intron,NM_001018000.3:intron,NM_001017999.2:intron;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:15063649;ESP6500_GTC=1004,2607,2892;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.1098+27A>G,NM_015209.2:c.1098+27A>G,NM_001018001.2:c.816+27A>G,NM_001018000.3:c.1080+27A>G,NM_001017999.2:c.816+27A>G;ESP6500_MAF=23.4186,40.9669,35.4836;ESP6500_TAC=4615,8391	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,85:85:99:1|1:15063649_A_G:3354,259,0
chr1	15063682	rs2076564	C	T	1280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.042;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=3.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=1.21;SOR=0.361;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076564;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|7/14|c.1098+60C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_015209.2|protein_coding|7/7|c.1098+60C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|7/7|c.1080+60C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|7/7|c.816+60C>T||||||,T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|7/7|c.816+60C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2167;p3_1000G_AF=0.432708;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=19813;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15390178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=784,600;ESP6500_AA_GTC=218,348,126;ESP6500_CDS_SIZES=NM_201628.2:2328,NM_015209.2:1266,NM_001018001.2:984,NM_001018000.3:1248,NM_001017999.2:984;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=71;ESP6500_EA_AC=738,2444;ESP6500_EA_GTC=78,582,931;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201628.2:intron,NM_015209.2:intron,NM_001018001.2:intron,NM_001018000.3:intron,NM_001017999.2:intron;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:15063682;ESP6500_GTC=296,930,1057;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.1098+60C>T,NM_015209.2:c.1098+60C>T,NM_001018001.2:c.816+60C>T,NM_001018000.3:c.1080+60C>T,NM_001017999.2:c.816+60C>T;ESP6500_MAF=23.193,43.3526,33.3333;ESP6500_TAC=1522,3044	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,37:70:99:0|1:15063649_A_G:1309,0,1233
chr1	15063715	rs2076563	G	A	1095.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.665;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.085;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.57;ReadPosRankSum=0.267;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076563;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|7/14|c.1098+93G>A||||||,A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_015209.2|protein_coding|7/7|c.1098+93G>A||||||,A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|7/7|c.1080+93G>A||||||,A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|7/7|c.816+93G>A||||||,A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|7/7|c.816+93G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2190;p3_1000G_AF=0.4373;p3_1000G_AFR_AF=0.6014;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=19632;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15390211;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,30:56:99:0|1:15063649_A_G:1124,0,991
chr1	15065598	rs12071695	C	G	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.342;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.587;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.48;ReadPosRankSum=0.705;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12071695;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|7/14|c.1099-32C>G||||||,G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_015209.2|protein_coding|7/7|c.1099-32C>G||||||,G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018000.3|protein_coding|7/7|c.1081-32C>G||||||,G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001018001.2|protein_coding|7/7|c.817-32C>G||||||,G|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_001017999.2|protein_coding|7/7|c.817-32C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=634;p3_1000G_AF=0.126597;p3_1000G_AFR_AF=0.3442;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=17579;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.0089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15392094;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1280,3126;ESP6500_AA_AGE=420.4+/-339.0;ESP6500_AA_GTC=187,906,1110;ESP6500_CDS_SIZES=NM_201628.2:2328,NM_015209.2:1266,NM_001018001.2:984,NM_001018000.3:1248,NM_001017999.2:984;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=55;ESP6500_EA_AC=50,8550;ESP6500_EA_AGE=31.7+/-84.0;ESP6500_EA_GTC=0,50,4250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201628.2:intron,NM_015209.2:intron,NM_001018001.2:intron,NM_001018000.3:intron,NM_001017999.2:intron;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:15065598;ESP6500_GTC=187,956,5360;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.1099-32C>G,NM_015209.2:c.1099-32C>G,NM_001018001.2:c.817-32C>G,NM_001018000.3:c.1081-32C>G,NM_001017999.2:c.817-32C>G;ESP6500_MAF=0.5814,29.0513,10.226;ESP6500_TAC=1330,11676	GT:AD:DP:GQ:PL	0/1:37,15:52:99:365,0,1041
chr1	15101438	rs10927676	C	T	501.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10927676;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|10/14|c.1548-105C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2534;p3_1000G_AF=0.50599;p3_1000G_AFR_AF=0.3585;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=19796;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.4622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15427934;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:530,51,0
chr1	15101486	rs502918	G	A	1018.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs502918;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|10/14|c.1548-57G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2995;p3_1000G_AF=0.598043;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=17274;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.5905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15427982;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1047,105,0
chr1	15101862	rs477953	T	C	970.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=4.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs477953;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|11/14|c.1779+88T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4728;p3_1000G_AF=0.944089;p3_1000G_AFR_AF=0.8782;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=18052;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.9483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15428358;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:999,69,0
chr1	15112329	rs139705142	ATGTGTGTGTGTGTG	A	551.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.53;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs139705142;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|13/14|c.2049-66_2049-53delGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,A|non_coding_transcript_exon_variant|MODIFIER|TMEM51-AS1|TMEM51-AS1|transcript|NR_027136.1|pseudogene|5/5|n.6451_6464delCACACACACACACA||||||	GT:AD:DP:GQ:PL	1/1:0,12:12:42:565,42,0
chr1	15112587	rs140963536;rs372503586	A	AAGGTCTTTTTTTTCTTCTCCCAGCGGC	389.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs140963536;dbSNPBuildID=134,138;ANN=AAGGTCTTTTTTTTCTTCTCCCAGCGGC|intron_variant|MODIFIER|KAZN|KAZN|transcript|NM_201628.2|protein_coding|14/14|c.2163+58_2163+59insTCTTCTCCCAGCGGCAGGTCTTTTTTT||||||INFO_REALIGN_3_PRIME,AAGGTCTTTTTTTTCTTCTCCCAGCGGC|non_coding_transcript_exon_variant|MODIFIER|TMEM51-AS1|TMEM51-AS1|transcript|NR_027136.1|pseudogene|5/5|n.6206_6207insGCCGCTGGGAGAAGAAAAAAAAGACCT||||||;p3_1000G_AC=2179;p3_1000G_AF=0.435104;p3_1000G_AFR_AF=0.4735;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=17435;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.504;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15439083;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:27:427,27,0
chr1	15114594	rs12048768	C	T	481.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.507;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=6.054;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.172;SOR=0.555;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12048768;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|KAZN|KAZN|transcript|NM_201628.2|protein_coding|15/15|c.2287C>T|p.Arg763Cys|2568/6022|2287/2328|763/775||,T|non_coding_transcript_exon_variant|MODIFIER|TMEM51-AS1|TMEM51-AS1|transcript|NR_027136.1|pseudogene|5/5|n.4200G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=257;p3_1000G_AF=0.0513179;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18778;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15441090;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=7,4399;ESP6500_AA_AGE=11.4+/-27.6;ESP6500_AA_GTC=0,7,2196;ESP6500_CDS_SIZES=NM_201628.2:2328;ESP6500_CG=3.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=26,8574;ESP6500_EA_AGE=16.0+/-53.3;ESP6500_EA_GTC=0,26,4274;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201628.2:missense;ESP6500_GL=KAZN;ESP6500_GRCh38_POSITION=1:15114594;ESP6500_GS=180;ESP6500_GTC=0,33,6470;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201628.2:c.2287C>T;ESP6500_HGVS_PROTEIN_VAR=NM_201628.2:p.(R763C);ESP6500_MAF=0.3023,0.1589,0.2537;ESP6500_PH=benign:0.016;ESP6500_TAC=33,12973	GT:AD:DP:GQ:PL	0/1:25,22:47:99:510,0,665
chr1	15164466	rs11582684	A	G	1786.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11582684;dbSNPBuildID=120;ANN=G|splice_region_variant&intron_variant|LOW|C1orf195|C1orf195|transcript|NM_001278502.1|protein_coding|2/2|c.99-5T>C||||||,G|downstream_gene_variant|MODIFIER|C1orf195|C1orf195|transcript|NM_001278501.1|protein_coding||c.*4029T>C|||||4008|,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136216.1|protein_coding|1/3|c.-267+11682A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136217.1|protein_coding|1/2|c.-194+11682A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001319665.1|protein_coding|1/3|c.-267+10512A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NR_135082.1|pseudogene|1/2|n.244+10512A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136218.1|protein_coding|1/3|c.-267+10512A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_018022.2|protein_coding|1/2|c.-194+10512A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1317;p3_1000G_AF=0.262979;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=19379;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.1849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15490962;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1815,168,0
chr1	15168614	rs78615461	A	G	2396.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78615461;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|C1orf195|C1orf195|transcript|NM_001278501.1|protein_coding|3/3|c.262T>C|p.Tyr88His|313/453|262/381|88/126||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136216.1|protein_coding|1/3|c.-267+15830A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136217.1|protein_coding|1/2|c.-194+15830A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001319665.1|protein_coding|1/3|c.-267+14660A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NR_135082.1|pseudogene|1/2|n.244+14660A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136218.1|protein_coding|1/3|c.-267+14660A>G||||||,G|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_018022.2|protein_coding|1/2|c.-194+14660A>G||||||,G|intron_variant|MODIFIER|C1orf195|C1orf195|transcript|NM_001278502.1|protein_coding|2/2|c.98+2567T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1429;p3_1000G_AF=0.285343;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=19754;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.1779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15495110;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2425,228,0
chr1	15171231	rs6429722	T	C	1290.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=1.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6429722;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|C1orf195|C1orf195|transcript|NM_001278501.1|protein_coding|2/3|c.48A>G|p.Arg16Arg|99/453|48/381|16/126||,C|synonymous_variant|LOW|C1orf195|C1orf195|transcript|NM_001278502.1|protein_coding|2/3|c.48A>G|p.Arg16Arg|99/415|48/216|16/71||,C|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136216.1|protein_coding|1/3|c.-267+18447T>C||||||,C|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136217.1|protein_coding|1/2|c.-194+18447T>C||||||,C|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001319665.1|protein_coding|1/3|c.-267+17277T>C||||||,C|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NR_135082.1|pseudogene|1/2|n.244+17277T>C||||||,C|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136218.1|protein_coding|1/3|c.-267+17277T>C||||||,C|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_018022.2|protein_coding|1/2|c.-194+17277T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4789;p3_1000G_AF=0.95627;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=13654;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15497727;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1319,135,0
chr1	15171348	rs10429935	T	A	592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10429935;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136216.1|protein_coding|1/3|c.-267+18564T>A||||||,A|intron_variant|MODIFIER|C1orf195|C1orf195|transcript|NM_001278501.1|protein_coding|1/2|c.-37-33A>T||||||,A|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136217.1|protein_coding|1/2|c.-194+18564T>A||||||,A|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001319665.1|protein_coding|1/3|c.-267+17394T>A||||||,A|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NR_135082.1|pseudogene|1/2|n.244+17394T>A||||||,A|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136218.1|protein_coding|1/3|c.-267+17394T>A||||||,A|intron_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_018022.2|protein_coding|1/2|c.-194+17394T>A||||||,A|intron_variant|MODIFIER|C1orf195|C1orf195|transcript|NM_001278502.1|protein_coding|1/2|c.-37-33A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3799;p3_1000G_AF=0.758586;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=15133;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.8062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15497844;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:621,57,0
chr1	15215041	rs3753314	C	T	383.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3753314;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136216.1|protein_coding|3/4|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136217.1|protein_coding|2/3|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001319665.1|protein_coding|3/4|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_001136218.1|protein_coding|3/4|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|TMEM51|TMEM51|transcript|NM_018022.2|protein_coding|2/3|c.-47C>T|||||47|,T|non_coding_transcript_exon_variant|MODIFIER|TMEM51|TMEM51|transcript|NR_135082.1|pseudogene|2/3|n.391C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4293;p3_1000G_AF=0.857228;p3_1000G_AFR_AF=0.6914;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=19352;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15541537;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3087,1307;ESP6500_AA_GTC=1092,903,202;ESP6500_CDS_SIZES=NM_018022.2:762,NM_001136218.1:762,NM_001136217.1:762,NM_001136216.1:762;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=21;ESP6500_EA_AC=7466,1116;ESP6500_EA_GTC=3249,968,74;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018022.2:utr-5,NM_001136218.1:utr-5,NM_001136217.1:utr-5,NM_001136216.1:utr-5;ESP6500_GL=TMEM51;ESP6500_GRCh38_POSITION=1:15215041;ESP6500_GTC=4341,1871,276;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018022.2:c.-47C>T,NM_001136218.1:c.-47C>T,NM_001136217.1:c.-47C>T,NM_001136216.1:c.-47C>T;ESP6500_MAF=13.004,29.7451,18.6729;ESP6500_TAC=10553,2423	GT:AD:DP:GQ:PL	1/1:0,11:11:33:412,33,0
chr1	15215111	rs3820065	T	C	599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.804;SOR=1.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820065;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|TMEM51|TMEM51|transcript|NM_001136216.1|protein_coding|3/4|c.24T>C|p.Asn8Asn|543/2016|24/762|8/253||,C|synonymous_variant|LOW|TMEM51|TMEM51|transcript|NM_001136217.1|protein_coding|2/3|c.24T>C|p.Asn8Asn|470/1943|24/762|8/253||,C|synonymous_variant|LOW|TMEM51|TMEM51|transcript|NM_001319665.1|protein_coding|3/4|c.24T>C|p.Asn8Asn|534/2005|24/408|8/135||,C|synonymous_variant|LOW|TMEM51|TMEM51|transcript|NM_001136218.1|protein_coding|3/4|c.24T>C|p.Asn8Asn|512/1985|24/762|8/253||,C|synonymous_variant|LOW|TMEM51|TMEM51|transcript|NM_018022.2|protein_coding|2/3|c.24T>C|p.Asn8Asn|439/1912|24/762|8/253||,C|non_coding_transcript_exon_variant|MODIFIER|TMEM51|TMEM51|transcript|NR_135082.1|pseudogene|2/3|n.461T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=797;p3_1000G_AF=0.159145;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=19408;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.162;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15541607;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=361,4045;ESP6500_AA_AGE=775.5+/-414.1;ESP6500_AA_GTC=18,325,1860;ESP6500_CDS_SIZES=NM_018022.2:762,NM_001136218.1:762,NM_001136217.1:762,NM_001136216.1:762;ESP6500_CG=-0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=1451,7149;ESP6500_EA_AGE=733.4+/-406.9;ESP6500_EA_GTC=125,1201,2974;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018022.2:coding-synonymous,NM_001136218.1:coding-synonymous,NM_001136217.1:coding-synonymous,NM_001136216.1:coding-synonymous;ESP6500_GL=TMEM51;ESP6500_GRCh38_POSITION=1:15215111;ESP6500_GTC=143,1526,4834;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018022.2:c.24T>C,NM_001136218.1:c.24T>C,NM_001136217.1:c.24T>C,NM_001136216.1:c.24T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018022.2:p.(N8),NM_001136218.1:p.(N8),NM_001136217.1:p.(N8),NM_001136216.1:p.(N8);ESP6500_MAF=16.8721,8.1934,13.932;ESP6500_TAC=1812,11194	GT:AD:DP:GQ:PL	0/1:18,20:38:99:628,0,536
chr1	15247203	rs142342714	A	AC	191.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.4;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs142342714;dbSNPBuildID=134;ANN=AC|upstream_gene_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding||c.-4582_-4581insC|||||68|,AC|intergenic_region|MODIFIER|TMEM51-FHAD1|TMEM51-FHAD1|intergenic_region|TMEM51-FHAD1|||n.15247203_15247204insC||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:229,21,0
chr1	15272664	rs6703580	G	T	886.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6703580;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|3/30|c.300+135G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3361;p3_1000G_AF=0.671126;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=18659;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.5696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15599160;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:63:1|1:15272664_G_T:915,63,0
chr1	15272668	rs6703582	G	C	851.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6703582;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|3/30|c.300+139G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3361;p3_1000G_AF=0.671126;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=18589;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.5696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15599164;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:60:1|1:15272664_G_T:880,60,0
chr1	15344987	rs486089	G	A	599.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs486089;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|15/30|c.2065-96G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2347;p3_1000G_AF=0.46865;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=20404;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15671483;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:62:628,62,0
chr1	15360563	rs4661330	A	G	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.607;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-1.042;SOR=0.951;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661330;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|21/31|c.2756A>G|p.Glu919Gly|2894/5090|2756/4239|919/1412||;p3_1000G_AA=A|||;p3_1000G_AC=1267;p3_1000G_AF=0.252995;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=19740;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.2853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15687059;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=361,1023;ESP6500_AA_GTC=52,257,383;ESP6500_CDS_SIZES=NM_052929.1:4239;ESP6500_CG=5.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=111;ESP6500_EA_AC=901,2281;ESP6500_EA_GTC=137,627,827;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052929.1:missense;ESP6500_GL=FHAD1;ESP6500_GRCh38_POSITION=1:15360563;ESP6500_GS=98;ESP6500_GTC=189,884,1210;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052929.1:c.2756A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052929.1:p.(E919G);ESP6500_MAF=28.3155,26.0838,27.6391;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=1262,3304	GT:AD:DP:GQ:PL	0/1:21,17:38:99:380,0,477
chr1	15375564	rs1388607147	C	T	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.908;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=0.518;SOR=2.376;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|26/30|c.3512-39C>T||||||	GT:AD:DP:GQ:PL	0/1:11,4:15:99:114,0,307
chr1	15375801	rs2496342	T	G	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.493;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2496342;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|27/30|c.3639+71T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2151;p3_1000G_AF=0.429513;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=10809;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15702297;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:55:55,0,287
chr1	15380641	rs3737690	C	T	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.482;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=4.589;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.177;SOR=0.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737690;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|27/30|c.3640-60C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=624;p3_1000G_AF=0.124601;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=21364;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15707137;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:265,0,348
chr1	15381488	rs2473333	G	A	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.671;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-1.383;SOR=3.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2473333;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|29/30|c.3956+37G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1361;p3_1000G_AF=0.271765;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=18880;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15707984;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=361,1023;ESP6500_AA_GTC=45,271,376;ESP6500_CDS_SIZES=NM_052929.1:4239;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=757,2425;ESP6500_EA_GTC=85,587,919;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052929.1:intron;ESP6500_GL=FHAD1;ESP6500_GRCh38_POSITION=1:15381488;ESP6500_GTC=130,858,1295;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052929.1:c.3956+37G>A;ESP6500_MAF=23.7901,26.0838,24.4853;ESP6500_TAC=1118,3448	GT:AD:DP:GQ:PL	0/1:5,6:11:99:200,0,134
chr1	15382044	rs1010294	A	G	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.309;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.395;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1010294;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|30/31|c.3973A>G|p.Ile1325Val|4111/5090|3973/4239|1325/1412||;p3_1000G_AA=G|||;p3_1000G_AC=2114;p3_1000G_AF=0.422125;p3_1000G_AFR_AF=0.77;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=22117;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15708540;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=961,423;ESP6500_AA_GTC=341,279,72;ESP6500_CDS_SIZES=NM_052929.1:4239;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=66;ESP6500_EA_AC=836,2346;ESP6500_EA_GTC=102,632,857;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052929.1:missense;ESP6500_GL=FHAD1;ESP6500_GRCh38_POSITION=1:15382044;ESP6500_GS=29;ESP6500_GTC=443,911,929;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052929.1:c.3973A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052929.1:p.(I1325V);ESP6500_MAF=26.2728,30.5636,39.3561;ESP6500_PH=benign:0.0;ESP6500_TAC=1797,2769	GT:AD:DP:GQ:PL	0/1:18,18:36:99:484,0,497
chr1	15383059	rs3820067	A	G	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.032;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820067;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|30/30|c.4122+866A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1274;p3_1000G_AF=0.254393;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=20711;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15709555;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,15:26:99:400,0,273
chr1	15383915	rs2496338	G	C	737.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.11;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=7.938;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=1.65;SOR=1.335;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2496338;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|30/30|c.4122+1722G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=2136;p3_1000G_AF=0.426518;p3_1000G_AFR_AF=0.7852;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=21105;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15710411;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,23:48:99:766,0,597
chr1	15383997	rs3831918	CAT	C	706.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.756;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=9.967;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.56;ReadPosRankSum=-1.057;SOR=0.056;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3831918;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|30/30|c.4122+1805_4122+1806delAT||||||;p3_1000G_AC=1239;p3_1000G_AF=0.247404;p3_1000G_AFR_AF=0.3941;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=24779;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.1789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15710493;p3_1000G_GRCH37_REF=CAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,20:30:99:744,0,388
chr1	15388220	rs72643654	G	A	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.845;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=0.66;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72643654;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|30/30|c.4122+6027G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=623;p3_1000G_AF=0.124401;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=10267;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15714716;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:138,0,344
chr1	15391342	rs2473338	A	G	260.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.09;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=55;MQRankSum=-3.718;QD=13.04;ReadPosRankSum=-0.149;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2473338;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|30/30|c.4123-5955A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1952;p3_1000G_AF=0.389776;p3_1000G_AFR_AF=0.6596;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=20041;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15717838;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:289,0,204
chr1	15397347	rs2294490	G	A	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.1;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.603;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.198;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294490;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|31/31|c.4173G>A|p.Leu1391Leu|4311/5090|4173/4239|1391/1412||;p3_1000G_AA=G|||;p3_1000G_AC=1556;p3_1000G_AF=0.310703;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=14855;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.4533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15723843;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=195,1189;ESP6500_AA_GTC=10,175,507;ESP6500_CDS_SIZES=NM_052929.1:4239;ESP6500_CG=1.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=116;ESP6500_EA_AC=1470,1712;ESP6500_EA_GTC=337,796,458;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052929.1:coding-synonymous;ESP6500_GL=FHAD1;ESP6500_GRCh38_POSITION=1:15397347;ESP6500_GTC=347,971,965;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052929.1:c.4173G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052929.1:p.(L1391);ESP6500_MAF=46.1974,14.0896,36.4652;ESP6500_TAC=1665,2901	GT:AD:DP:GQ:PL	0/1:10,15:25:99:341,0,249
chr1	15397507	rs2253371	A	G	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.404;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.822;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2253371;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|31/31|c.*94A>G|||||94|;p3_1000G_AA=G|||;p3_1000G_AC=1603;p3_1000G_AF=0.320088;p3_1000G_AFR_AF=0.4342;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=18061;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.2594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15724003;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:145,0,134
chr1	15397537	rs2253372	A	G	139.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2253372;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|FHAD1|FHAD1|transcript|NM_052929.1|protein_coding|31/31|c.*124A>G|||||124|;p3_1000G_AA=G|||;p3_1000G_AC=3731;p3_1000G_AF=0.745008;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18864;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.7356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15724033;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:167,12,0
chr1	15427988	rs2473356	T	C	866.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2473356;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EFHD2|EFHD2|transcript|NM_024329.5|protein_coding|3/3|c.592-605T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4568;p3_1000G_AF=0.912141;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=16489;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8569;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15754484;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:895,78,0
chr1	15428752	rs3765372	C	T	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.166;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=-0.349;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765372;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|EFHD2|EFHD2|transcript|NM_024329.5|protein_coding|4/4|c.*28C>T|||||28|;p3_1000G_AA=C|||;p3_1000G_AC=852;p3_1000G_AF=0.170128;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=13122;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.1501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15755248;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=184,4134;ESP6500_AA_GTC=4,176,1979;ESP6500_CDS_SIZES=NM_024329.5:723;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=27;ESP6500_EA_AC=1106,7368;ESP6500_EA_GTC=63,980,3194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024329.5:utr-3;ESP6500_GL=EFHD2;ESP6500_GRCh38_POSITION=1:15428752;ESP6500_GTC=67,1156,5173;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024329.5:c.*28C>T;ESP6500_MAF=13.0517,4.2612,10.0844;ESP6500_TAC=1290,11502	GT:AD:DP:GQ:PL	0/1:6,6:12:99:112,0,165
chr1	15440540	rs497078;260156	C	T	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.227;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.24;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs497078;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|CTRC|CTRC|transcript|NM_007272.2|protein_coding|3/8|c.180C>T|p.Gly60Gly|203/899|180/807|60/268||;p3_1000G_AA=C|||;p3_1000G_AC=415;p3_1000G_AF=0.0828674;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=14713;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0.0865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15767036;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=635,3771;ESP6500_AA_GTC=55,525,1623;ESP6500_CDS_SIZES=NM_007272.2:807;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=111;ESP6500_EA_AC=926,7674;ESP6500_EA_GTC=36,854,3410;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007272.2:coding-synonymous;ESP6500_GL=CTRC;ESP6500_GRCh38_POSITION=1:15440540;ESP6500_GTC=91,1379,5033;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007272.2:c.180C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007272.2:p.(G60);ESP6500_MAF=10.7674,14.4122,12.0022;ESP6500_TAC=1561,11445;CLINVAR_AF_ESP=0.1200;CLINVAR_AF_EXAC=0.09323;CLINVAR_AF_TGP=0.0829;CLINVAR_ALLELEID=249402;CLINVAR_CLNDISDB=MedGen:C0238339,OMIM:167800,Orphanet:ORPHA676,SNOMED_CT:68072000|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_pancreatitis|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.15440540C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:78903|Illumina_Clinical_Services_Laboratory,Illumina:66955;CLINVAR_GENEINFO=CTRC:11330;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=497078	GT:AD:DP:GQ:PL	0/1:25,11:36:99:219,0,691
chr1	15442643	rs3765373;439571	G	A	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.298;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=-0.48;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765373;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CTRC|CTRC|transcript|NM_007272.2|protein_coding|4/7|c.356+71G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=916;p3_1000G_AF=0.182907;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=18752;p3_1000G_EAS_AF=0.498;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15769139;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;CLINVAR_ALLELEID=432974;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.15442643G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CTRC:11330;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3765373	GT:AD:DP:GQ:PL	0/1:15,7:22:99:163,0,429
chr1	15443607	rs545634;439564	G	A	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.607;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.323;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs545634;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|CTRC|CTRC|transcript|NM_007272.2|protein_coding|5/7|c.493+52G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=365;p3_1000G_AF=0.0728834;p3_1000G_AFR_AF=0.1142;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=21618;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15770102;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=334,2320;ESP6500_AA_GTC=24,286,1017;ESP6500_CDS_SIZES=NM_007272.2:807;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=31;ESP6500_EA_AC=510,4108;ESP6500_EA_GTC=16,478,1815;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007272.2:intron;ESP6500_GL=CTRC;ESP6500_GRCh38_POSITION=1:15443607;ESP6500_GTC=40,764,2832;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007272.2:c.493+52G>A;ESP6500_MAF=11.0437,12.5848,11.6062;ESP6500_TAC=844,6428;CLINVAR_ALLELEID=432978;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.15443607G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CTRC:11330;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=545634	GT:AD:DP:GQ:PL	0/1:19,18:37:99:486,0,545
chr1	15446438	rs555015	A	G	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.29;ReadPosRankSum=0.483;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs555015;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CTRC|CTRC|transcript|NM_007272.2|protein_coding|7/7|c.793-137A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2727;p3_1000G_AF=0.544529;p3_1000G_AFR_AF=0.8124;p3_1000G_AMR_AF=0.5159;p3_1000G_AN=5008;p3_1000G_DP=18404;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15772933;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:292,0,161
chr1	15456601	rs5772641;rs796840064	GA	G	1276.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.464;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5772641;dbSNPBuildID=130,146;ANN=G|upstream_gene_variant|MODIFIER|CELA2A|CELA2A|transcript|NM_033440.2|protein_coding||c.-152delA|||||126|,G|intergenic_region|MODIFIER|CTRC-CELA2A|CTRC-CELA2A|intergenic_region|CTRC-CELA2A|||n.15456602delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4143;p3_1000G_AF=0.827276;p3_1000G_AFR_AF=0.7814;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=17055;p3_1000G_EAS_AF=0.8264;p3_1000G_EUR_AF=0.8489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15783096;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1314,138,0
chr1	15456622	rs397795356;rs5772642	C	CA	2196.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.88;QD=27.54;SOR=1.571;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5772642;dbSNPBuildID=135,138;ANN=CA|upstream_gene_variant|MODIFIER|CELA2A|CELA2A|transcript|NM_033440.2|protein_coding||c.-132_-131insA|||||105|,CA|intergenic_region|MODIFIER|CTRC-CELA2A|CTRC-CELA2A|intergenic_region|CTRC-CELA2A|||n.15456622_15456623insA||||||;p3_1000G_AA=AA|A|AA|deletion;p3_1000G_AC=4837;p3_1000G_AF=0.965855;p3_1000G_AFR_AF=0.8994;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=17263;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.993;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15783117;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2234,181,0
chr1	15456727	rs2303195	C	T	1010.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.066;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=2.563;MLEAC=1;MLEAF=0.5;MQ=59.93;MQRankSum=0;QD=9.72;ReadPosRankSum=0.812;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303195;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|CELA2A|CELA2A|transcript|NM_033440.2|protein_coding||c.-27C>T|||||1|,T|intergenic_region|MODIFIER|CTRC-CELA2A|CTRC-CELA2A|intergenic_region|CTRC-CELA2A|||n.15456727C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=16321;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0.0934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15783222;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=626,3780;ESP6500_AA_AGE=270.7+/-269.8;ESP6500_AA_GTC=48,530,1625;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=95;ESP6500_EA_AC=974,7626;ESP6500_EA_AGE=211.7+/-252.2;ESP6500_EA_GTC=41,892,3367;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:15456727;ESP6500_GTC=89,1422,4992;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=11.3256,14.2079,12.302;ESP6500_TAC=1600,11406	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1039,0,1482
chr1	15461774	rs3737696	A	C	3346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=1.516;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737696;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CELA2A|CELA2A|transcript|NM_033440.2|protein_coding|3/7|c.227+116A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3389;p3_1000G_AF=0.676717;p3_1000G_AFR_AF=0.5469;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=22104;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15788269;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3375,297,0
chr1	15463238	rs3815792	A	G	983.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.413;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.133;SOR=1.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3815792;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CELA2A|CELA2A|transcript|NM_033440.2|protein_coding|4/7|c.357-148A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1671;p3_1000G_AF=0.333666;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17820;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.3519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15789733;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,34:60:99:1012,0,723
chr1	15465931	rs2901964	C	G	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.222;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.89;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2901964;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|CELA2A|CELA2A|transcript|NM_033440.2|protein_coding|5/7|c.494-68C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1539;p3_1000G_AF=0.307308;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=20546;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15792426;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:345,0,353
chr1	15467418	rs1042010	G	A	1016.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.264;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=4.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.81;SOR=0.331;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1042010;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|CELA2A|CELA2A|transcript|NM_033440.2|protein_coding|7/8|c.672G>A|p.Ala224Ala|698/920|672/810|224/269||;p3_1000G_AA=g|||;p3_1000G_AC=901;p3_1000G_AF=0.179912;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=16915;p3_1000G_EAS_AF=0.0446;p3_1000G_EUR_AF=0.169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15793913;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1222,3184;ESP6500_AA_AGE=424.5+/-340.5;ESP6500_AA_GTC=190,842,1171;ESP6500_CDS_SIZES=NM_033440.2:810;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=60;ESP6500_EA_AC=1608,6992;ESP6500_EA_AGE=299.0+/-304.2;ESP6500_EA_GTC=128,1352,2820;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033440.2:coding-synonymous;ESP6500_GL=CELA2A;ESP6500_GRCh38_POSITION=1:15467418;ESP6500_GTC=318,2194,3991;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033440.2:c.672G>A;ESP6500_HGVS_PROTEIN_VAR=NM_033440.2:p.(A224);ESP6500_MAF=18.6977,27.7349,21.7592;ESP6500_TAC=2830,10176	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1045,0,1006
chr1	15475973	rs141820246	GA	G	575.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.032;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.474;SOR=0.678;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs141820246;dbSNPBuildID=134;ANN=G|upstream_gene_variant|MODIFIER|CELA2B|CELA2B|transcript|NM_015849.2|protein_coding||c.-152delA|||||127|,G|downstream_gene_variant|MODIFIER|CELA2A|CELA2A|transcript|NM_033440.2|protein_coding||c.*3967delA|||||3883|,G|intergenic_region|MODIFIER|CELA2A-CELA2B|CELA2A-CELA2B|intergenic_region|CELA2A-CELA2B|||n.15475974delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=269;p3_1000G_AF=0.0537141;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=16521;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.0934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15802468;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:20,27:47:99:613,0,420
chr1	15483211	rs12129367	T	C	2000.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.52;ClippingRankSum=0;DP=150;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.529;SOR=0.724;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12129367;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CELA2B|CELA2B|transcript|NM_015849.2|protein_coding|4/7|c.357-53T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2835;p3_1000G_AF=0.566094;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=21637;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.4294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15809706;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:79,71:150:99:2029,0,1898
chr1	15485937	rs6429745	A	G	1450.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6429745;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CELA2B|CELA2B|transcript|NM_015849.2|protein_coding|6/8|c.530A>G|p.Gln177Arg|555/923|530/810|177/269||;p3_1000G_AA=G|||;p3_1000G_AC=4974;p3_1000G_AF=0.993211;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17830;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15812432;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4315,91;ESP6500_AA_AGE=75.2+/-113.4;ESP6500_AA_GTC=2113,89,1;ESP6500_CDS_SIZES=NM_015849.2:810;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=155;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015849.2:missense;ESP6500_GL=CELA2B;ESP6500_GRCh38_POSITION=1:15485937;ESP6500_GS=43;ESP6500_GTC=6411,91,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015849.2:c.530A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015849.2:p.(Q177R);ESP6500_MAF=0.0233,2.0654,0.7151;ESP6500_PH=benign:0.0;ESP6500_TAC=12913,93	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1479,138,0
chr1	15487256	rs2011159	C	T	1504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2011159;dbSNPBuildID=92;ANN=T|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding||c.*5687G>A|||||4145|,T|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding||c.*5687G>A|||||4145|,T|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene||n.*4145G>A|||||4145|,T|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene||n.*4145G>A|||||4145|,T|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding||c.*5687G>A|||||4145|,T|intron_variant|MODIFIER|CELA2B|CELA2B|transcript|NM_015849.2|protein_coding|6/7|c.640-29C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18124;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15813751;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4405,1;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=2202,1,0;ESP6500_CDS_SIZES=NM_015849.2:810;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=50;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015849.2:intron;ESP6500_GL=CELA2B;ESP6500_GRCh38_POSITION=1:15487256;ESP6500_GTC=6502,1,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015849.2:c.640-29C>T;ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_TAC=13005,1	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1533,138,0
chr1	15487474	rs3737704	A	C	1505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.605;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=-0.901;SOR=0.962;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737704;dbSNPBuildID=107;ANN=C|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding||c.*5469T>G|||||3927|,C|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding||c.*5469T>G|||||3927|,C|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene||n.*3927T>G|||||3927|,C|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene||n.*3927T>G|||||3927|,C|downstream_gene_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding||c.*5469T>G|||||3927|,C|intron_variant|MODIFIER|CELA2B|CELA2B|transcript|NM_015849.2|protein_coding|7/7|c.792+37A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3263;p3_1000G_AF=0.651558;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18434;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.5358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15813969;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3740,666;ESP6500_AA_AGE=281.6+/-276.1;ESP6500_AA_GTC=1589,562,52;ESP6500_CDS_SIZES=NM_015849.2:810;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=66;ESP6500_EA_AC=4764,3836;ESP6500_EA_AGE=540.4+/-383.8;ESP6500_EA_GTC=1340,2084,876;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015849.2:intron;ESP6500_GL=CELA2B;ESP6500_GRCh38_POSITION=1:15487474;ESP6500_GTC=2929,2646,928;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015849.2:c.792+37A>C;ESP6500_MAF=44.6047,15.1158,34.6148;ESP6500_TAC=8504,4502	GT:AD:DP:GQ:PL	0/1:27,57:84:99:1534,0,667
chr1	15493812	rs2234723;rs397776921	A	AC	966.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.859;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.035;SOR=0.823;INS;HET;VARTYPE=INS;dbSNP138_ID=rs2234723;dbSNPBuildID=98,138;ANN=AC|downstream_gene_variant|MODIFIER|CELA2B|CELA2B|transcript|NM_015849.2|protein_coding||c.*2500_*2501insC|||||2413|,AC|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding|8/8|c.1158+79dupG||||||,AC|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|4/4|c.708+79dupG||||||,AC|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|8/8|n.1461+79dupG||||||,AC|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|8/8|n.1263+79dupG||||||,AC|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding|8/8|c.909+79dupG||||||;p3_1000G_AA=CCCCC|CCCC|CCCCC|deletion;p3_1000G_AC=1181;p3_1000G_AF=0.235823;p3_1000G_AFR_AF=0.4425;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=18314;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15820307;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:47,38:85:99:1004,0,1278
chr1	15494081	rs2020900	T	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-0.925;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2020900;dbSNPBuildID=98;ANN=A|downstream_gene_variant|MODIFIER|CELA2B|CELA2B|transcript|NM_015849.2|protein_coding||c.*2769T>A|||||2681|,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding|7/8|c.1049-80A>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|3/4|c.599-80A>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|7/8|n.1352-80A>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|7/8|n.1154-80A>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding|7/8|c.800-80A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3177;p3_1000G_AF=0.634385;p3_1000G_AFR_AF=0.8949;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=16496;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15820576;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:150,0,330
chr1	15495178	rs4646092	C	T	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.458;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=6.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-1.294;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4646092;dbSNPBuildID=111;ANN=T|downstream_gene_variant|MODIFIER|CELA2B|CELA2B|transcript|NM_015849.2|protein_coding||c.*3866C>T|||||3778|,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding|7/8|c.1048+95G>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|3/4|c.598+95G>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|7/8|n.1351+95G>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|7/8|n.1153+95G>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding|7/8|c.799+95G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1181;p3_1000G_AF=0.235823;p3_1000G_AFR_AF=0.4425;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=18679;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15821673;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:237,0,168
chr1	15505888	rs1800614	G	T	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.667;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=1.41;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1800614;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding|5/8|c.720+102C>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|2/4|c.419-10436C>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|5/8|n.1023+102C>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|5/8|n.825+102C>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding|5/8|c.471+102C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2928;p3_1000G_AF=0.584665;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=20010;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.5149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15832383;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,14:20:99:389,0,158
chr1	15506048	rs1052576	T	C	685.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-1.495;SOR=1.046;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052576;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|CASP9|CASP9|transcript|NM_001229.4|protein_coding|5/9|c.662A>G|p.Gln221Arg|907/3038|662/1251|221/416||,C|missense_variant|MODERATE|CASP9|CASP9|transcript|NM_032996.3|protein_coding|5/9|c.413A>G|p.Gln138Arg|738/2869|413/1002|138/333||,C|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|2/4|c.419-10596A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|5/9|n.965A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|5/9|n.767A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2929;p3_1000G_AF=0.584864;p3_1000G_AFR_AF=0.7398;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=17997;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.5149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15832543;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3101,1305;ESP6500_AA_AGE=440.4+/-346.0;ESP6500_AA_GTC=1101,899,203;ESP6500_CDS_SIZES=NM_032996.2:1002,NM_001229.3:1251;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=73;ESP6500_EA_AC=4542,4058;ESP6500_EA_AGE=558.4+/-387.2;ESP6500_EA_GTC=1215,2112,973;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032996.2:missense,NM_001229.3:missense;ESP6500_GL=CASP9;ESP6500_GRCh38_POSITION=1:15506048;ESP6500_GS=43,43;ESP6500_GTC=2316,3011,1176;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032996.2:c.413A>G,NM_001229.3:c.662A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032996.2:p.(Q138R),NM_001229.3:p.(Q221R);ESP6500_MAF=47.186,29.6187,41.2348;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7643,5363	GT:AD:DP:GQ:PL	0/1:21,27:48:99:714,0,488
chr1	15507802	rs2020903	G	A	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.114;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2020903;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding|3/8|c.453+71C>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|2/4|c.418+10308C>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|3/8|n.698+71C>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|3/8|n.558+71C>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding|3/8|c.204+71C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2926;p3_1000G_AF=0.584265;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=16502;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.5149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15834297;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=974,410;ESP6500_AA_GTC=347,280,65;ESP6500_CDS_SIZES=NM_032996.2:1002,NM_001229.3:1251;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=38;ESP6500_EA_AC=1687,1495;ESP6500_EA_GTC=446,795,350;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032996.2:intron,NM_001229.3:intron;ESP6500_GL=CASP9;ESP6500_GRCh38_POSITION=1:15507802;ESP6500_GTC=793,1075,415;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032996.2:c.204+71C>T,NM_001229.3:c.453+71C>T;ESP6500_MAF=46.983,29.6243,41.7214;ESP6500_TAC=2661,1905	GT:AD:DP:GQ:PL	0/1:9,5:14:99:152,0,234
chr1	15507996	rs4646032	G	A	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.348;SOR=1.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4646032;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding|2/8|c.419-89C>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|2/4|c.418+10114C>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|2/8|n.664-89C>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|2/8|n.524-89C>T||||||,A|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding|2/8|c.170-89C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2926;p3_1000G_AF=0.584265;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=19859;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.5149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15834491;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,14:23:99:361,0,170
chr1	15518120	rs1132312	A	G	333.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.667;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=-0.174;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1132312;dbSNPBuildID=137;ANN=G|synonymous_variant|LOW|CASP9|CASP9|transcript|NM_001229.4|protein_coding|2/9|c.408T>C|p.Phe136Phe|653/3038|408/1251|136/416||,G|synonymous_variant|LOW|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|2/5|c.408T>C|p.Phe136Phe|653/2588|408/801|136/266||,G|synonymous_variant|LOW|CASP9|CASP9|transcript|NM_032996.3|protein_coding|2/9|c.159T>C|p.Phe53Phe|484/2869|159/1002|53/333||,G|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|2/8|n.523+130T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|2/9|n.653T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2929;p3_1000G_AF=0.584864;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=18823;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.5149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15844615;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3099,1307;ESP6500_AA_AGE=441.8+/-346.5;ESP6500_AA_GTC=1100,899,204;ESP6500_CDS_SIZES=NM_032996.2:1002,NM_001229.3:1251;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=105;ESP6500_EA_AC=4542,4058;ESP6500_EA_AGE=559.4+/-387.4;ESP6500_EA_GTC=1215,2112,973;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032996.2:coding-synonymous,NM_001229.3:coding-synonymous;ESP6500_GL=CASP9;ESP6500_GRCh38_POSITION=1:15518120;ESP6500_GTC=2315,3011,1177;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032996.2:c.159T>C,NM_001229.3:c.408T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032996.2:p.(F53),NM_001229.3:p.(F136);ESP6500_MAF=47.186,29.6641,41.2502;ESP6500_TAC=7641,5365	GT:AD:DP:GQ:PL	0/1:29,16:45:99:362,0,729
chr1	15518431	rs1820205	C	T	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.384;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.344;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1820205;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001229.4|protein_coding|1/8|c.133-36G>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_001278054.1|protein_coding|1/4|c.133-36G>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102732.1|pseudogene|1/8|n.378-36G>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NR_102733.1|pseudogene|1/8|n.378-36G>A||||||,T|intron_variant|MODIFIER|CASP9|CASP9|transcript|NM_032996.3|protein_coding|1/8|c.-117-36G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2928;p3_1000G_AF=0.584665;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=21628;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.5149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15844926;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3100,1306;ESP6500_AA_GTC=1102,896,205;ESP6500_CDS_SIZES=NM_032996.2:1002,NM_001229.3:1251;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=25;ESP6500_EA_AC=4537,4061;ESP6500_EA_GTC=1220,2097,982;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032996.2:intron,NM_001229.3:intron;ESP6500_GL=CASP9;ESP6500_GRCh38_POSITION=1:15518431;ESP6500_GTC=2322,2993,1187;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032996.2:c.-153G>A,NM_001229.3:c.133-36G>A;ESP6500_MAF=47.2319,29.6414,41.2719;ESP6500_TAC=7637,5367	GT:AD:DP:GQ:PL	0/1:9,7:16:99:180,0,270
chr1	15534308	rs11583306	C	T	763.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.954;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.053;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.669;SOR=0.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11583306;dbSNPBuildID=120;ANN=T|splice_region_variant&intron_variant|LOW|DNAJC16|DNAJC16|transcript|NM_015291.3|protein_coding|3/14|c.234+5C>T||||||,T|splice_region_variant&intron_variant|LOW|DNAJC16|DNAJC16|transcript|NM_001287811.1|protein_coding|2/13|c.-703+5C>T||||||,T|splice_region_variant&intron_variant|LOW|DNAJC16|DNAJC16|transcript|NR_109898.1|pseudogene|3/14|n.398+5C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1151;p3_1000G_AF=0.229832;p3_1000G_AFR_AF=0.4289;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=18421;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0.2167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15860803;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1832,2574;ESP6500_AA_AGE=534.4+/-373.9;ESP6500_AA_GTC=379,1074,750;ESP6500_CDS_SIZES=NM_015291.2:2349;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=107;ESP6500_EA_AC=1924,6676;ESP6500_EA_AGE=340.0+/-323.4;ESP6500_EA_GTC=198,1528,2574;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015291.2:intron;ESP6500_GL=DNAJC16;ESP6500_GRCh38_POSITION=1:15534308;ESP6500_GTC=577,2602,3324;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015291.2:c.234+5C>T;ESP6500_MAF=22.3721,41.5797,28.879;ESP6500_TAC=3756,9250	GT:AD:DP:GQ:PL	0/1:22,34:56:99:792,0,587
chr1	15563860	rs6429750	A	G	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.345;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-1.495;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6429750;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|DNAJC16|DNAJC16|transcript|NM_015291.3|protein_coding|9/14|c.1339-69A>G||||||,G|intron_variant|MODIFIER|DNAJC16|DNAJC16|transcript|NM_001287811.1|protein_coding|8/13|c.403-69A>G||||||,G|intron_variant|MODIFIER|DNAJC16|DNAJC16|transcript|NR_109898.1|pseudogene|9/14|n.1503-69A>G||||||	GT:AD:DP:GQ:PL	0/1:4,5:9:92:118,0,92
chr1	15565920	rs2236215	A	C	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.958;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.1;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236215;dbSNPBuildID=98;ANN=C|splice_region_variant&synonymous_variant|LOW|DNAJC16|DNAJC16|transcript|NM_015291.3|protein_coding|12/15|c.1600A>C|p.Arg534Arg|1764/6069|1600/2349|534/782||,C|splice_region_variant&synonymous_variant|LOW|DNAJC16|DNAJC16|transcript|NM_001287811.1|protein_coding|11/14|c.664A>C|p.Arg222Arg|1579/5884|664/1413|222/470||,C|splice_region_variant&non_coding_transcript_exon_variant|LOW|DNAJC16|DNAJC16|transcript|NR_109898.1|pseudogene|12/15|n.1764A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1443;p3_1000G_AF=0.288139;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=17020;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.2326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15892415;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2537,1869;ESP6500_AA_AGE=540.2+/-375.5;ESP6500_AA_GTC=739,1059,405;ESP6500_CDS_SIZES=NM_015291.2:2349;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=295;ESP6500_EA_AC=2129,6471;ESP6500_EA_AGE=715.6+/-406.1;ESP6500_EA_GTC=253,1623,2424;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015291.2:coding-synonymous-near-splice;ESP6500_GL=DNAJC16;ESP6500_GRCh38_POSITION=1:15565920;ESP6500_GTC=992,2682,2829;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015291.2:c.1600A>C;ESP6500_HGVS_PROTEIN_VAR=NM_015291.2:p.(R534);ESP6500_MAF=24.7558,42.4194,35.8757;ESP6500_TAC=4666,8340	GT:AD:DP:GQ:PL	0/1:18,23:41:99:571,0,530
chr1	15574626	rs61213091	C	T	505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.829;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=0.033;SOR=0.826;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61213091;dbSNPBuildID=129;ANN=T|downstream_gene_variant|MODIFIER|DNAJC16|DNAJC16|transcript|NM_015291.3|protein_coding||c.*6449C>T|||||2893|,T|downstream_gene_variant|MODIFIER|DNAJC16|DNAJC16|transcript|NM_001287811.1|protein_coding||c.*6449C>T|||||2893|,T|downstream_gene_variant|MODIFIER|DNAJC16|DNAJC16|transcript|NR_109898.1|pseudogene||n.*2893C>T|||||2893|,T|intron_variant|MODIFIER|AGMAT|AGMAT|transcript|NM_024758.4|protein_coding|6/6|c.985+131G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1188;p3_1000G_AF=0.23722;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=19463;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15901121;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,18:28:99:534,0,299
chr1	15577823	rs11544523	C	T	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.632;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=4.503;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.971;SOR=1.557;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11544523;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|AGMAT|AGMAT|transcript|NM_024758.4|protein_coding|5/7|c.762G>A|p.Ser254Ser|905/3154|762/1059|254/352||;p3_1000G_AA=C|||;p3_1000G_AC=1189;p3_1000G_AF=0.23742;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=21655;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.2177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15904318;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1892,2514;ESP6500_AA_AGE=543.7+/-376.3;ESP6500_AA_GTC=400,1092,711;ESP6500_CDS_SIZES=NM_024758.4:1059;ESP6500_CG=-10.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=77;ESP6500_EA_AC=1922,6678;ESP6500_EA_AGE=339.6+/-323.3;ESP6500_EA_GTC=198,1526,2576;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024758.4:coding-synonymous;ESP6500_GL=AGMAT;ESP6500_GRCh38_POSITION=1:15577823;ESP6500_GTC=598,2618,3287;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024758.4:c.762G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024758.4:p.(S254);ESP6500_MAF=22.3488,42.9414,29.3249;ESP6500_TAC=3814,9192	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,23:50:99:0|1:15577823_C_T:557,0,754
chr1	15583129	rs111921608;rs377404107	TGAGTACAG	T	238.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=0.947;SOR=2.093;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs111921608,rs377404107;dbSNPBuildID=132,138;ANN=T|intron_variant|MODIFIER|AGMAT|AGMAT|transcript|NM_024758.4|protein_coding|2/6|c.475+56_475+63delCTGTACTC||||||;p3_1000G_AC=3069;p3_1000G_AF=0.612819;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=17864;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.5278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15909624;p3_1000G_GRCH37_REF=TGAGTACAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,7:13:99:276,0,567
chr1	15583249	rs11580170	C	T	508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.671;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.096;SOR=0.409;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11580170;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|AGMAT|AGMAT|transcript|NM_024758.4|protein_coding|2/7|c.419G>A|p.Arg140Gln|562/3154|419/1059|140/352||;p3_1000G_AA=C|||;p3_1000G_AC=1364;p3_1000G_AF=0.272364;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=18278;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.2326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15909744;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2311,2095;ESP6500_AA_AGE=603.0+/-390.0;ESP6500_AA_GTC=608,1095,500;ESP6500_CDS_SIZES=NM_024758.4:1059;ESP6500_CG=1.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=65;ESP6500_EA_AC=2130,6470;ESP6500_EA_AGE=365.7+/-334.0;ESP6500_EA_GTC=252,1626,2422;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024758.4:missense;ESP6500_GL=AGMAT;ESP6500_GRCh38_POSITION=1:15583249;ESP6500_GS=43;ESP6500_GTC=860,2721,2922;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024758.4:c.419G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024758.4:p.(R140Q);ESP6500_MAF=24.7674,47.5488,34.1458;ESP6500_PH=benign:0.016;ESP6500_TAC=4441,8565	GT:AD:DP:GQ:PL	0/1:26,23:49:99:537,0,711
chr1	15583355	rs6429757	C	G	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=6.333;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=-0.031;SOR=1.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6429757;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|AGMAT|AGMAT|transcript|NM_024758.4|protein_coding|2/7|c.313G>C|p.Gly105Arg|456/3154|313/1059|105/352||;p3_1000G_AA=G|||;p3_1000G_AC=3171;p3_1000G_AF=0.633187;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=18672;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.5288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15909850;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3749,657;ESP6500_AA_AGE=279.0+/-274.6;ESP6500_AA_GTC=1598,553,52;ESP6500_CDS_SIZES=NM_024758.4:1059;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=59;ESP6500_EA_AC=4755,3845;ESP6500_EA_AGE=541.2+/-384.0;ESP6500_EA_GTC=1338,2079,883;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024758.4:missense;ESP6500_GL=AGMAT;ESP6500_GRCh38_POSITION=1:15583355;ESP6500_GS=125;ESP6500_GTC=2936,2632,935;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024758.4:c.313G>C;ESP6500_HGVS_PROTEIN_VAR=NM_024758.4:p.(G105R);ESP6500_MAF=44.7093,14.9115,34.6148;ESP6500_PH=benign:0.0;ESP6500_TAC=8504,4502	GT:AD:DP:GQ:PL	0/1:34,17:51:99:445,0,904
chr1	15583400	rs6429758	A	G	268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.19;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.528;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=1.21;SOR=1.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6429758;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|AGMAT|AGMAT|transcript|NM_024758.4|protein_coding|1/6|c.273-5T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3069;p3_1000G_AF=0.612819;p3_1000G_AFR_AF=0.8298;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=18990;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.5278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15909895;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3483,923;ESP6500_AA_AGE=711.2+/-408.0;ESP6500_AA_GTC=1374,735,94;ESP6500_CDS_SIZES=NM_024758.4:1059;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=4738,3862;ESP6500_EA_AGE=584.8+/-391.8;ESP6500_EA_GTC=1329,2080,891;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024758.4:intron;ESP6500_GL=AGMAT;ESP6500_GRCh38_POSITION=1:15583400;ESP6500_GTC=2703,2815,985;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024758.4:c.273-5T>C;ESP6500_MAF=44.907,20.9487,36.7907;ESP6500_TAC=8221,4785	GT:AD:DP:GQ:PL	0/1:27,11:38:99:297,0,737
chr1	15584636	rs59475085	G	A	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.644;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.087;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59475085;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|AGMAT|AGMAT|transcript|NM_024758.4|protein_coding|1/6|c.272+60C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1370;p3_1000G_AF=0.273562;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=12131;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.2326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15911131;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:222,0,178
chr1	15630274	rs72647120	G	T	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.473;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.24;ReadPosRankSum=-0.53;SOR=0.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72647120;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|DDI2|DDI2|transcript|NM_032341.4|protein_coding|2/9|c.269-51G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1258;p3_1000G_AF=0.251198;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=19422;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0.2684;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15956769;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1816,2590;ESP6500_AA_GTC=400,1016,787;ESP6500_CDS_SIZES=NM_032341.4:1200;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=54;ESP6500_EA_AC=2415,6185;ESP6500_EA_GTC=323,1769,2208;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032341.4:intron;ESP6500_GL=DDI2;ESP6500_GRCh38_POSITION=1:15630274;ESP6500_GTC=723,2785,2995;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_032341.4:c.269-51G>T;ESP6500_MAF=28.0814,41.2165,32.5311;ESP6500_TAC=4231,8775	GT:AD:DP:GQ:PL	0/1:17,7:24:99:154,0,612
chr1	15633482	rs3795763	C	T	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.66;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.4;ReadPosRankSum=0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795763;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|DDI2|DDI2|transcript|NM_032341.4|protein_coding|4/10|c.549C>T|p.Ala183Ala|762/2680|549/1200|183/399||;p3_1000G_AA=C|||;p3_1000G_AC=1257;p3_1000G_AF=0.250998;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=18022;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0.2684;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15959977;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1831,2575;ESP6500_AA_AGE=535.8+/-374.3;ESP6500_AA_GTC=406,1019,778;ESP6500_CDS_SIZES=NM_032341.4:1200;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=210;ESP6500_EA_AC=2428,6172;ESP6500_EA_AGE=401.3+/-347.1;ESP6500_EA_GTC=326,1776,2198;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032341.4:coding-synonymous;ESP6500_GL=DDI2;ESP6500_GRCh38_POSITION=1:15633482;ESP6500_GTC=732,2795,2976;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032341.4:c.549C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032341.4:p.(A183);ESP6500_MAF=28.2326,41.557,32.7464;ESP6500_TAC=4259,8747	GT:AD:DP:GQ:PL	0/1:8,4:12:93:93,0,264
chr1	15633869	rs41270277	G	A	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.214;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.485;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=1.04;SOR=0.439;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41270277;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|DDI2|DDI2|transcript|NM_032341.4|protein_coding|4/9|c.632+304G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=431;p3_1000G_AF=0.0860623;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=19035;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15960364;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,11:27:99:290,0,417
chr1	15638530	rs1344332583	CTTT	C	115.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=0.992;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|DDI2|DDI2|transcript|NM_032341.4|protein_coding|5/9|c.760+116_760+118delTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,5:7:55:153,0,55
chr1	15660052	rs3766163	T	C	526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.142;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.673;SOR=1.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766163;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|RSC1A1|RSC1A1|transcript|NM_006511.2|protein_coding|1/1|c.184T>C|p.Phe62Leu|340/2318|184/1854|62/617||,C|3_prime_UTR_variant|MODIFIER|DDI2|DDI2|transcript|NM_032341.4|protein_coding|10/10|c.*262T>C|||||3419|;p3_1000G_AA=T|||;p3_1000G_AC=1256;p3_1000G_AF=0.250799;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=21772;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0.2694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15986547;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1830,2576;ESP6500_AA_AGE=536.1+/-374.4;ESP6500_AA_GTC=405,1020,778;ESP6500_CDS_SIZES=NM_032341.4:1200,NM_006511.1:1854;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=129;ESP6500_EA_AC=2425,6175;ESP6500_EA_AGE=400.9+/-346.9;ESP6500_EA_GTC=324,1777,2199;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032341.4:utr-3,NM_006511.1:missense;ESP6500_GL=RSC1A1,DDI2;ESP6500_GRCh38_POSITION=1:15660052;ESP6500_GS=.,22;ESP6500_GTC=729,2797,2977;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032341.4:c.*3419T>C,NM_006511.1:c.184T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_006511.1:p.(F62L);ESP6500_MAF=28.1977,41.5343,32.7157;ESP6500_PH=.,benign:0.021;ESP6500_TAC=4255,8751	GT:AD:DP:GQ:PL	0/1:30,20:50:99:555,0,885
chr1	15684510	rs767880122	G	GGGC	40.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0;SOR=0.693;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=GGGC|5_prime_UTR_variant|MODIFIER|PLEKHM2|PLEKHM2|transcript|NM_015164.2|protein_coding|1/20|c.-37_-35dupCGG|||||34|INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,2:4:66:78,0,66
chr1	15716271	rs12091750	T	C	510.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.413;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.562;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0.748;SOR=0.345;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12091750;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|PLEKHM2|PLEKHM2|transcript|NM_015164.2|protein_coding|2/20|c.95T>C|p.Ile32Thr|322/4122|95/3060|32/1019||;p3_1000G_AA=C|||;p3_1000G_AC=1618;p3_1000G_AF=0.323083;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=19438;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0.2445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16042766;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2599,1401;ESP6500_AA_GTC=866,867,267;ESP6500_CDS_SIZES=NM_015164.2:3060;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=2127,6243;ESP6500_EA_GTC=264,1599,2322;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015164.2:missense;ESP6500_GL=PLEKHM2;ESP6500_GRCh38_POSITION=1:15716271;ESP6500_GS=89;ESP6500_GTC=1130,2466,2589;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015164.2:c.95T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015164.2:p.(I32T);ESP6500_MAF=25.4122,35.025,38.2053;ESP6500_PH=benign:0.0;ESP6500_TAC=4726,7644	GT:AD:DP:GQ:PL	0/1:11,20:31:99:539,0,295
chr1	15718450	rs12091644	G	A	161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.766;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.119;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-1.586;SOR=0.111;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12091644;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PLEKHM2|PLEKHM2|transcript|NM_015164.2|protein_coding|4/19|c.378-88G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1618;p3_1000G_AF=0.323083;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=17108;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16044945;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:190,0,214
chr1	15721231	rs12734937	T	C	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=6.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.06;ReadPosRankSum=1.74;SOR=2.245;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12734937;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|PLEKHM2|PLEKHM2|transcript|NM_015164.2|protein_coding|6/19|c.653-98T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1619;p3_1000G_AF=0.323283;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=15036;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16047726;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,10:13:50:315,0,50
chr1	15721510	rs12091326	A	G	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.28;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12091326;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PLEKHM2|PLEKHM2|transcript|NM_015164.2|protein_coding|7/19|c.712+122A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1560;p3_1000G_AF=0.311502;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=16354;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16048005;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:69:110,0,69
chr1	15742576	rs77751812	C	T	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.509;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77751812;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|TMEM82|TMEM82|transcript|NM_001013641.2|protein_coding|1/6|c.17C>T|p.Ser6Phe|85/1265|17/1032|6/343||,T|downstream_gene_variant|MODIFIER|SLC25A34|SLC25A34|transcript|NM_207348.2|protein_coding||c.*3170C>T|||||1184|;p3_1000G_AA=c|||;p3_1000G_AC=180;p3_1000G_AF=0.0359425;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=12270;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16069071;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_001013641.1:1032;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=59;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001013641.1:missense;ESP6500_GL=TMEM82;ESP6500_GRCh38_POSITION=1:15742576;ESP6500_GS=155;ESP6500_GTC=0,5,6498;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001013641.1:c.17C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001013641.1:p.(S6F);ESP6500_MAF=0.0349,0.0454,0.0384;ESP6500_PH=possibly-damaging:0.828;ESP6500_TAC=5,13001	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,11:29:99:1|0:15742572_C_A:332,0,507
chr1	15770439	rs10927851	C	T	839.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.787;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.386;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=1.73;SOR=0.744;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10927851;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|FBLIM1|FBLIM1|transcript|NM_001024215.1|protein_coding|5/6|c.572C>T|p.Ser191Phe|779/1521|572/1125|191/374||,T|missense_variant|MODERATE|FBLIM1|FBLIM1|transcript|NM_017556.2|protein_coding|6/9|c.572C>T|p.Ser191Phe|871/3349|572/1122|191/373||,T|missense_variant|MODERATE|FBLIM1|FBLIM1|transcript|NM_001024216.1|protein_coding|2/5|c.281C>T|p.Ser94Phe|301/2779|281/831|94/276||,T|sequence_feature|MODERATE|FBLIM1|FBLIM1|modified-residue:phosphoserine|NM_001024215.1|protein_coding|5/6|c.572C>T||||||,T|sequence_feature|MODERATE|FBLIM1|FBLIM1|modified-residue:phosphoserine|NM_001024216.1|protein_coding|2/5|c.281C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3217;p3_1000G_AF=0.642372;p3_1000G_AFR_AF=0.3843;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=17332;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.6501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16096934;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1898,2508;ESP6500_AA_AGE=538.5+/-375.0;ESP6500_AA_GTC=420,1058,725;ESP6500_CDS_SIZES=NM_017556.2:1122,NM_001024216.1:831,NM_001024215.1:1125;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=66;ESP6500_EA_AC=6122,2478;ESP6500_EA_AGE=689.3+/-404.3;ESP6500_EA_GTC=2171,1780,349;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017556.2:missense,NM_001024216.1:missense,NM_001024215.1:missense;ESP6500_GL=FBLIM1;ESP6500_GRCh38_POSITION=1:15770439;ESP6500_GS=155,155,155;ESP6500_GTC=2591,2838,1074;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017556.2:c.572C>T,NM_001024216.1:c.281C>T,NM_001024215.1:c.572C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017556.2:p.(S191F),NM_001024216.1:p.(S94F),NM_001024215.1:p.(S191F);ESP6500_MAF=28.814,43.0776,38.3362;ESP6500_PH=probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997;ESP6500_TAC=8020,4986	GT:AD:DP:GQ:PL	0/1:20,33:53:99:868,0,510
chr1	15916125	rs12063905	C	A	510.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.444;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-1.008;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12063905;dbSNPBuildID=120;ANN=A|splice_region_variant&intron_variant|LOW|SPEN|SPEN|transcript|NM_015001.2|protein_coding|5/14|c.1244-3C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=604;p3_1000G_AF=0.120607;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=17163;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.0974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16242620;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=182,4224;ESP6500_AA_AGE=114.6+/-152.6;ESP6500_AA_GTC=6,170,2027;ESP6500_CDS_SIZES=NM_015001.2:10995;ESP6500_CG=-1.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=76;ESP6500_EA_AC=870,7730;ESP6500_EA_AGE=196.9+/-241.7;ESP6500_EA_GTC=47,776,3477;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015001.2:intron;ESP6500_GL=SPEN;ESP6500_GRCh38_POSITION=1:15916125;ESP6500_GTC=53,946,5504;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015001.2:c.1244-3C>A;ESP6500_MAF=10.1163,4.1307,8.0886;ESP6500_TAC=1052,11954	GT:AD:DP:GQ:PL	0/1:19,20:39:99:539,0,506
chr1	15918867	rs848201	G	A	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.265;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.25;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848201;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SPEN|SPEN|transcript|NM_015001.2|protein_coding|6/14|c.1396-59G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=605;p3_1000G_AF=0.120807;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=17618;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16245362;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:188,0,315
chr1	15929149	rs848208	C	T	1734.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.039;ClippingRankSum=0;DP=135;ExcessHet=3.0103;FS=4.155;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.17;SOR=1.088;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848208;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|SPEN|SPEN|transcript|NM_015001.2|protein_coding|11/15|c.2909C>T|p.Ala970Val|3113/12227|2909/10995|970/3664||;p3_1000G_AA=C|||;p3_1000G_AC=605;p3_1000G_AF=0.120807;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=18453;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.0984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16255644;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=182,4224;ESP6500_AA_AGE=112.1+/-150.2;ESP6500_AA_GTC=6,170,2027;ESP6500_CDS_SIZES=NM_015001.2:10995;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=57;ESP6500_EA_AC=870,7730;ESP6500_EA_AGE=196.1+/-241.1;ESP6500_EA_GTC=47,776,3477;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015001.2:missense;ESP6500_GL=SPEN;ESP6500_GRCh38_POSITION=1:15929149;ESP6500_GS=64;ESP6500_GTC=53,946,5504;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015001.2:c.2909C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015001.2:p.(A970V);ESP6500_MAF=10.1163,4.1307,8.0886;ESP6500_PH=benign:0.006;ESP6500_TAC=1052,11954	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1763,0,2054
chr1	15929512	rs848209	T	C	1712.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.31;ClippingRankSum=0;DP=143;ExcessHet=3.0103;FS=1.38;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.027;SOR=0.84;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848209;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|SPEN|SPEN|transcript|NM_015001.2|protein_coding|11/15|c.3272T>C|p.Leu1091Pro|3476/12227|3272/10995|1091/3664||;p3_1000G_AA=C|||;p3_1000G_AC=3250;p3_1000G_AF=0.648962;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=18084;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.5577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16256007;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3989,417;ESP6500_AA_AGE=198.4+/-222.2;ESP6500_AA_GTC=1827,335,41;ESP6500_CDS_SIZES=NM_015001.2:10995;ESP6500_CG=3.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=44;ESP6500_EA_AC=4956,3644;ESP6500_EA_AGE=522.8+/-380.2;ESP6500_EA_GTC=1426,2104,770;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015001.2:missense;ESP6500_GL=SPEN;ESP6500_GRCh38_POSITION=1:15929512;ESP6500_GS=98;ESP6500_GTC=3253,2439,811;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015001.2:c.3272T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015001.2:p.(L1091P);ESP6500_MAF=42.3721,9.4644,31.2241;ESP6500_PH=benign:0.0;ESP6500_TAC=8945,4061	GT:AD:DP:GQ:PL	0/1:78,62:140:99:1741,0,2175
chr1	15933318	rs848210	A	G	2786.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.06;ClippingRankSum=0;DP=184;ExcessHet=3.0103;FS=3.371;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.977;SOR=0.686;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848210;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|SPEN|SPEN|transcript|NM_015001.2|protein_coding|11/15|c.7078A>G|p.Asn2360Asp|7282/12227|7078/10995|2360/3664||;p3_1000G_AA=G|||;p3_1000G_AC=3250;p3_1000G_AF=0.648962;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=17756;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.5577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16259813;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4014,392;ESP6500_AA_AGE=195.3+/-220.0;ESP6500_AA_GTC=1826,362,15;ESP6500_CDS_SIZES=NM_015001.2:10995;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=104;ESP6500_EA_AC=4955,3645;ESP6500_EA_AGE=524.0+/-380.4;ESP6500_EA_GTC=1425,2105,770;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015001.2:missense;ESP6500_GL=SPEN;ESP6500_GRCh38_POSITION=1:15933318;ESP6500_GS=23;ESP6500_GTC=3251,2467,785;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015001.2:c.7078A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015001.2:p.(N2360D);ESP6500_MAF=42.3837,8.897,31.0395;ESP6500_PH=benign:0.0;ESP6500_TAC=8969,4037	GT:AD:DP:GQ:PL	0/1:86,97:183:99:2815,0,2104
chr1	15934421	rs848211	C	T	4000.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.305;ClippingRankSum=0;DP=271;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.445;SOR=0.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848211;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|SPEN|SPEN|transcript|NM_015001.2|protein_coding|11/15|c.8181C>T|p.Ala2727Ala|8385/12227|8181/10995|2727/3664||;p3_1000G_AA=C|||;p3_1000G_AC=607;p3_1000G_AF=0.121206;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=19485;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.0984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16260916;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=189,4217;ESP6500_AA_AGE=119.2+/-156.9;ESP6500_AA_GTC=6,177,2020;ESP6500_CDS_SIZES=NM_015001.2:10995;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=76;ESP6500_EA_AC=870,7730;ESP6500_EA_AGE=197.6+/-242.2;ESP6500_EA_GTC=47,776,3477;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015001.2:coding-synonymous;ESP6500_GL=SPEN;ESP6500_GRCh38_POSITION=1:15934421;ESP6500_GTC=53,953,5497;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015001.2:c.8181C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015001.2:p.(A2727);ESP6500_MAF=10.1163,4.2896,8.1424;ESP6500_TAC=1059,11947	GT:AD:DP:GQ:PL	0/1:116,154:270:99:4029,0,3139
chr1	15935909	rs61749277	C	T	894.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.169;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.56;SOR=0.962;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61749277;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|SPEN|SPEN|transcript|NM_015001.2|protein_coding|11/15|c.9669C>T|p.Ser3223Ser|9873/12227|9669/10995|3223/3664||;p3_1000G_AA=C|||;p3_1000G_AC=607;p3_1000G_AF=0.121206;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=10601;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.0984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16262404;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=169,4229;ESP6500_AA_GTC=5,159,2035;ESP6500_CDS_SIZES=NM_015001.2:10995;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=29;ESP6500_EA_AC=820,7756;ESP6500_EA_GTC=41,738,3509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015001.2:coding-synonymous;ESP6500_GL=SPEN;ESP6500_GRCh38_POSITION=1:15935909;ESP6500_GTC=46,897,5544;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015001.2:c.9669C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015001.2:p.(S3223);ESP6500_MAF=9.5616,3.8427,7.6229;ESP6500_TAC=989,11985	GT:AD:DP:GQ:PL	0/1:34,37:71:99:923,0,1067
chr1	15937769	rs848213	G	A	886.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.622;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=7.582;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.84;SOR=0.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848213;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001287603.1|protein_coding||c.*4200C>T|||||4100|,A|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001242884.1|protein_coding||c.*4200C>T|||||4100|,A|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001287604.1|protein_coding||c.*4200C>T|||||4100|,A|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001324137.1|protein_coding||c.*4200C>T|||||4100|,A|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001324138.1|protein_coding||c.*4200C>T|||||4100|,A|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_003443.2|protein_coding||c.*4200C>T|||||4100|,A|intron_variant|MODIFIER|SPEN|SPEN|transcript|NM_015001.2|protein_coding|12/14|c.10510-43G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=636;p3_1000G_AF=0.126997;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=21469;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16264264;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=198,4208;ESP6500_AA_AGE=123.3+/-160.7;ESP6500_AA_GTC=3,192,2008;ESP6500_CDS_SIZES=NM_015001.2:10995;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=83;ESP6500_EA_AC=954,7646;ESP6500_EA_AGE=209.1+/-250.4;ESP6500_EA_GTC=53,848,3399;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015001.2:intron;ESP6500_GL=SPEN;ESP6500_GRCh38_POSITION=1:15937769;ESP6500_GTC=56,1040,5407;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015001.2:c.10510-43G>A;ESP6500_MAF=11.093,4.4939,8.8575;ESP6500_TAC=1152,11854	GT:AD:DP:GQ:PL	0/1:41,39:80:99:915,0,1067
chr1	15938927	rs848214	A	G	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=0.652;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848214;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001287603.1|protein_coding||c.*3042T>C|||||2942|,G|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001242884.1|protein_coding||c.*3042T>C|||||2942|,G|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001287604.1|protein_coding||c.*3042T>C|||||2942|,G|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001324137.1|protein_coding||c.*3042T>C|||||2942|,G|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001324138.1|protein_coding||c.*3042T>C|||||2942|,G|downstream_gene_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_003443.2|protein_coding||c.*3042T>C|||||2942|,G|intron_variant|MODIFIER|SPEN|SPEN|transcript|NM_015001.2|protein_coding|14/14|c.10863+51A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2825;p3_1000G_AF=0.564097;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=17867;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.5537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16265422;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2931,1475;ESP6500_AA_AGE=472.8+/-356.5;ESP6500_AA_GTC=969,993,241;ESP6500_CDS_SIZES=NM_015001.2:10995;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=64;ESP6500_EA_AC=4929,3671;ESP6500_EA_AGE=525.9+/-380.8;ESP6500_EA_GTC=1406,2117,777;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015001.2:intron;ESP6500_GL=SPEN;ESP6500_GRCh38_POSITION=1:15938927;ESP6500_GTC=2375,3110,1018;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015001.2:c.10863+51A>G;ESP6500_MAF=42.686,33.4771,39.5664;ESP6500_TAC=7860,5146	GT:AD:DP:GQ:PL	0/1:6,12:18:99:378,0,172
chr1	15944685	rs848216	T	C	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.251;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.783;SOR=0.536;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848216;dbSNPBuildID=86;ANN=C|sequence_feature|MODERATE|ZBTB17|ZBTB17|modified-residue:phosphoserine|NM_001287603.1|protein_coding|8/15|c.1070+12A>G||||||,C|sequence_feature|MODERATE|ZBTB17|ZBTB17|modified-residue:phosphoserine|NM_003443.2|protein_coding|8/15|c.1070+12A>G||||||,C|downstream_gene_variant|MODIFIER|SPEN|SPEN|transcript|NM_015001.2|protein_coding||c.*5258T>C|||||4230|,C|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001287603.1|protein_coding|8/15|c.1070+12A>G||||||,C|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001242884.1|protein_coding|7/14|c.824+12A>G||||||,C|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001287604.1|protein_coding|8/15|c.842+12A>G||||||,C|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001324137.1|protein_coding|7/14|c.842+12A>G||||||,C|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001324138.1|protein_coding|7/14|c.881+12A>G||||||,C|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_003443.2|protein_coding|8/15|c.1070+12A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=924;p3_1000G_AF=0.184505;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=13950;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.1054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16271180;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=914,3492;ESP6500_AA_AGE=703.3+/-407.0;ESP6500_AA_GTC=100,714,1389;ESP6500_CDS_SIZES=NM_003443.2:2412,NM_001242884.1:2166;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=39;ESP6500_EA_AC=935,7665;ESP6500_EA_AGE=753.7+/-407.5;ESP6500_EA_GTC=56,823,3421;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003443.2:intron,NM_001242884.1:intron;ESP6500_GL=ZBTB17;ESP6500_GRCh38_POSITION=1:15944685;ESP6500_GTC=156,1537,4810;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003443.2:c.1070+12A>G,NM_001242884.1:c.824+12A>G;ESP6500_MAF=10.8721,20.7444,14.2165;ESP6500_TAC=1849,11157	GT:AD:DP:GQ:PL	0/1:14,23:37:99:644,0,357
chr1	15945755	rs848217	A	G	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.119;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.049;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.015;SOR=0.973;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848217;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ZBTB17|ZBTB17|transcript|NM_001287603.1|protein_coding|6/16|c.621T>C|p.Ala207Ala|860/2772|621/2433|207/810||,G|synonymous_variant|LOW|ZBTB17|ZBTB17|transcript|NM_001242884.1|protein_coding|5/15|c.375T>C|p.Ala125Ala|675/2566|375/2166|125/721||,G|synonymous_variant|LOW|ZBTB17|ZBTB17|transcript|NM_001287604.1|protein_coding|6/16|c.393T>C|p.Ala131Ala|856/2747|393/2184|131/727||,G|synonymous_variant|LOW|ZBTB17|ZBTB17|transcript|NM_001324137.1|protein_coding|5/15|c.393T>C|p.Ala131Ala|653/2544|393/2184|131/727||,G|synonymous_variant|LOW|ZBTB17|ZBTB17|transcript|NM_001324138.1|protein_coding|5/15|c.432T>C|p.Ala144Ala|671/2562|432/2223|144/740||,G|synonymous_variant|LOW|ZBTB17|ZBTB17|transcript|NM_003443.2|protein_coding|6/16|c.621T>C|p.Ala207Ala|860/2751|621/2412|207/803||;p3_1000G_AA=G|||;p3_1000G_AC=2419;p3_1000G_AF=0.483027;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=15001;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.502;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16272250;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2013,2385;ESP6500_AA_GTC=483,1047,669;ESP6500_CDS_SIZES=NM_003443.2:2412,NM_001242884.1:2166;ESP6500_CG=-6.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=33;ESP6500_EA_AC=4180,4400;ESP6500_EA_GTC=1072,2036,1182;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003443.2:coding-synonymous,NM_001242884.1:coding-synonymous;ESP6500_GL=ZBTB17;ESP6500_GRCh38_POSITION=1:15945755;ESP6500_GTC=1555,3083,1851;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003443.2:c.621T>C,NM_001242884.1:c.375T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003443.2:p.(A207),NM_001242884.1:p.(A125);ESP6500_MAF=48.7179,45.7708,47.7192;ESP6500_TAC=6193,6785	GT:AD:DP:GQ:PL	0/1:31,24:55:99:576,0,828
chr1	15948274	rs698891	C	T	545.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.973;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=3.7;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-1.645;SOR=1.288;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs698891;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001287603.1|protein_coding|3/15|c.205+17G>A||||||,T|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001242884.1|protein_coding|2/14|c.-63-1151G>A||||||,T|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001287604.1|protein_coding|3/15|c.-24+21G>A||||||,T|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001324137.1|protein_coding|2/14|c.-23-1151G>A||||||,T|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_001324138.1|protein_coding|3/14|c.205+17G>A||||||,T|intron_variant|MODIFIER|ZBTB17|ZBTB17|transcript|NM_003443.2|protein_coding|3/15|c.205+17G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=832;p3_1000G_AF=0.166134;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=19714;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.1054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16274769;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=737,3669;ESP6500_AA_AGE=301.0+/-286.6;ESP6500_AA_GTC=67,603,1533;ESP6500_CDS_SIZES=NM_003443.2:2412,NM_001242884.1:2166;ESP6500_CG=-0.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=51;ESP6500_EA_AC=942,7658;ESP6500_EA_AGE=205.2+/-247.7;ESP6500_EA_GTC=59,824,3417;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003443.2:intron,NM_001242884.1:intron;ESP6500_GL=ZBTB17;ESP6500_GRCh38_POSITION=1:15948274;ESP6500_GTC=126,1427,4950;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003443.2:c.205+17G>A,NM_001242884.1:c.-1214G>A;ESP6500_MAF=10.9535,16.7272,12.9094;ESP6500_TAC=1679,11327	GT:AD:DP:GQ:PL	0/1:41,24:65:99:574,0,1188
chr1	16004321	rs1763617	C	T	469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.496;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.22;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1763617;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|C1orf64|C1orf64|transcript|NM_178840.3|protein_coding|1/2|c.18C>T|p.Asp6Asp|86/927|18/510|6/169||;p3_1000G_AA=C|||;p3_1000G_AC=977;p3_1000G_AF=0.195088;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=15718;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16330816;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=662,3732;ESP6500_AA_GTC=51,560,1586;ESP6500_CDS_SIZES=NM_178840.2:510;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=37;ESP6500_EA_AC=1253,7331;ESP6500_EA_GTC=89,1075,3128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178840.2:coding-synonymous;ESP6500_GL=C1orf64;ESP6500_GRCh38_POSITION=1:16004321;ESP6500_GTC=140,1635,4714;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178840.2:c.18C>T;ESP6500_HGVS_PROTEIN_VAR=NM_178840.2:p.(D6);ESP6500_MAF=14.5969,15.066,14.7557;ESP6500_TAC=1915,11063	GT:AD:DP:GQ:PL	0/1:28,21:49:99:498,0,719
chr1	16004442	rs1763615	C	T	287.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.058;SOR=1.236;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1763615;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|C1orf64|C1orf64|transcript|NM_178840.3|protein_coding|1/1|c.82+57C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=977;p3_1000G_AF=0.195088;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=15622;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.1581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16330937;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=211,1173;ESP6500_AA_GTC=15,181,496;ESP6500_CDS_SIZES=NM_178840.2:510;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=27;ESP6500_EA_AC=462,2720;ESP6500_EA_GTC=36,390,1165;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178840.2:intron;ESP6500_GL=C1orf64;ESP6500_GRCh38_POSITION=1:16004442;ESP6500_GTC=51,571,1661;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178840.2:c.82+57C>T;ESP6500_MAF=14.5192,15.2457,14.7394;ESP6500_TAC=673,3893	GT:AD:DP:GQ:PL	0/1:11,12:23:99:316,0,268
chr1	16006184	rs3738646	T	C	955.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.105;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.935;SOR=0.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738646;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|C1orf64|C1orf64|transcript|NM_178840.3|protein_coding|2/2|c.348T>C|p.Ser116Ser|416/927|348/510|116/169||;p3_1000G_AA=T|||;p3_1000G_AC=455;p3_1000G_AF=0.0908546;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18258;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.0835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16332679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=138,4268;ESP6500_AA_AGE=96.7+/-135.4;ESP6500_AA_GTC=2,134,2067;ESP6500_CDS_SIZES=NM_178840.2:510;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=46;ESP6500_EA_AC=743,7857;ESP6500_EA_AGE=178.3+/-227.7;ESP6500_EA_GTC=32,679,3589;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178840.2:coding-synonymous;ESP6500_GL=C1orf64;ESP6500_GRCh38_POSITION=1:16006184;ESP6500_GTC=34,813,5656;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178840.2:c.348T>C;ESP6500_HGVS_PROTEIN_VAR=NM_178840.2:p.(S116);ESP6500_MAF=8.6395,3.1321,6.7738;ESP6500_TAC=881,12125	GT:AD:DP:GQ:PL	0/1:45,42:87:99:984,0,1096
chr1	16015742	rs1739840	A	G	670.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.333;SOR=0.478;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1739840;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding|3/3|c.351T>C|p.Thr117Thr|1178/2892|351/513|117/170||;p3_1000G_AA=G|||;p3_1000G_AC=3268;p3_1000G_AF=0.652556;p3_1000G_AFR_AF=0.7216;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=15224;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5944;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16342237;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3071,1335;ESP6500_AA_AGE=442.7+/-346.8;ESP6500_AA_GTC=1073,925,205;ESP6500_CDS_SIZES=NM_014424.4:513;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=50;ESP6500_EA_AC=5031,3567;ESP6500_EA_AGE=513.5+/-378.2;ESP6500_EA_GTC=1488,2055,756;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014424.4:coding-synonymous;ESP6500_GL=HSPB7;ESP6500_GRCh38_POSITION=1:16015742;ESP6500_GTC=2561,2980,961;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014424.4:c.351T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014424.4:p.(T117);ESP6500_MAF=41.4864,30.2996,37.6961;ESP6500_TAC=8102,4902	GT:AD:DP:GQ:PL	0/1:18,25:43:99:699,0,427
chr1	16017865	rs732286	A	G	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.834;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=2.02;SOR=0.971;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs732286;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding|1/3|c.99T>C|p.Ala33Ala|926/2892|99/513|33/170||,G|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-4755A>G|||||4126|,G|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-4755A>G|||||4126|,G|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-4755A>G|||||4126|;p3_1000G_AA=G|||;p3_1000G_AC=3250;p3_1000G_AF=0.648962;p3_1000G_AFR_AF=0.7103;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=17259;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16344360;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3006,1398;ESP6500_AA_AGE=447.5+/-348.4;ESP6500_AA_GTC=1025,956,221;ESP6500_CDS_SIZES=NM_014424.4:513;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=36;ESP6500_EA_AC=5031,3567;ESP6500_EA_AGE=507.7+/-376.9;ESP6500_EA_GTC=1489,2053,757;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014424.4:coding-synonymous;ESP6500_GL=HSPB7;ESP6500_GRCh38_POSITION=1:16017865;ESP6500_GTC=2514,3009,978;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014424.4:c.99T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014424.4:p.(A33);ESP6500_MAF=41.4864,31.7439,38.1864;ESP6500_TAC=8037,4965	GT:AD:DP:GQ:PL	0/1:11,13:24:99:388,0,347
chr1	16017907	rs945416	G	A	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.602;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=9.558;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.14;SOR=1.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs945416;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding|1/3|c.57C>T|p.Ser19Ser|884/2892|57/513|19/170||,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-4713G>A|||||4084|,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-4713G>A|||||4084|,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-4713G>A|||||4084|;p3_1000G_AA=G|||;p3_1000G_AC=3250;p3_1000G_AF=0.648962;p3_1000G_AFR_AF=0.7103;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=17584;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16344402;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3001,1405;ESP6500_AA_AGE=679.7+/-403.7;ESP6500_AA_GTC=1020,961,222;ESP6500_CDS_SIZES=NM_014424.4:513;ESP6500_CG=0.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=44;ESP6500_EA_AC=5029,3571;ESP6500_EA_AGE=623.4+/-397.5;ESP6500_EA_GTC=1489,2051,760;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014424.4:coding-synonymous;ESP6500_GL=HSPB7;ESP6500_GRCh38_POSITION=1:16017907;ESP6500_GTC=2509,3012,982;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014424.4:c.57C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014424.4:p.(S19);ESP6500_MAF=41.5233,31.8883,38.2593;ESP6500_TAC=8030,4976	GT:AD:DP:GQ:PL	0/1:10,15:25:99:389,0,268
chr1	16017971	rs3738640	C	T	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.84;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738640;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding|1/3|c.-8G>A|||||8|,T|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-4649C>T|||||4020|,T|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-4649C>T|||||4020|,T|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-4649C>T|||||4020|;p3_1000G_AA=C|||;p3_1000G_AC=453;p3_1000G_AF=0.0904553;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=15861;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.0845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16344466;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=138,4268;ESP6500_AA_GTC=2,134,2067;ESP6500_CDS_SIZES=NM_014424.4:513;ESP6500_CG=-3.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=26;ESP6500_EA_AC=735,7865;ESP6500_EA_GTC=31,673,3596;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014424.4:utr-5;ESP6500_GL=HSPB7;ESP6500_GRCh38_POSITION=1:16017971;ESP6500_GTC=33,807,5663;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014424.4:c.-8G>A;ESP6500_MAF=8.5465,3.1321,6.7123;ESP6500_TAC=873,12133	GT:AD:DP:GQ:PL	0/1:10,8:18:99:205,0,244
chr1	16017999	rs1572381	G	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.66;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.856;SOR=0.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1572381;dbSNPBuildID=88;ANN=A|5_prime_UTR_variant|MODIFIER|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding|1/3|c.-36C>T|||||36|,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-4621G>A|||||3992|,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-4621G>A|||||3992|,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-4621G>A|||||3992|;p3_1000G_AA=G|||;p3_1000G_AC=3247;p3_1000G_AF=0.648363;p3_1000G_AFR_AF=0.7088;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=14254;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16344494;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2976,1400;ESP6500_AA_GTC=1034,908,246;ESP6500_CDS_SIZES=NM_014424.4:513;ESP6500_CG=3.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=17;ESP6500_EA_AC=5002,3552;ESP6500_EA_GTC=1513,1976,788;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014424.4:utr-5;ESP6500_GL=HSPB7;ESP6500_GRCh38_POSITION=1:16017999;ESP6500_GTC=2547,2884,1034;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014424.4:c.-36C>T;ESP6500_MAF=41.5244,31.9927,38.2985;ESP6500_TAC=7978,4952	GT:AD:DP:GQ:PL	0/1:8,12:20:99:328,0,233
chr1	16018130	rs945417	C	G	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.108;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.006;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs945417;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding|1/3|c.-167G>C|||||167|,G|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-4490C>G|||||3861|,G|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-4490C>G|||||3861|,G|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-4490C>G|||||3861|;p3_1000G_AA=C|||;p3_1000G_AC=3246;p3_1000G_AF=0.648163;p3_1000G_AFR_AF=0.7405;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=15911;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.5686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16344625;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:71:110,0,71
chr1	16018189	rs56783248	G	A	59.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56783248;dbSNPBuildID=129;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding|1/3|c.-226C>T||||||,A|5_prime_UTR_variant|MODIFIER|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding|1/3|c.-226C>T|||||226|,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-4431G>A|||||3802|,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-4431G>A|||||3802|,A|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-4431G>A|||||3802|;p3_1000G_AA=G|||;p3_1000G_AC=452;p3_1000G_AF=0.0902556;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=15473;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16344684;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:87,9,0
chr1	16019124	rs945422	T	C	788.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs945422;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding||c.-1161A>G|||||334|,C|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-3496T>C|||||2867|,C|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-3496T>C|||||2867|,C|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-3496T>C|||||2867|,C|intergenic_region|MODIFIER|HSPB7-CLCNKA|HSPB7-CLCNKA|intergenic_region|HSPB7-CLCNKA|||n.16019124T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3292;p3_1000G_AF=0.657348;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=18117;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.5676;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16345619;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:817,66,0
chr1	16019240	rs1544131	C	T	1065.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.314;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.184;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1544131;dbSNPBuildID=88;ANN=T|upstream_gene_variant|MODIFIER|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding||c.-1277G>A|||||450|,T|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-3380C>T|||||2751|,T|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-3380C>T|||||2751|,T|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-3380C>T|||||2751|,T|intergenic_region|MODIFIER|HSPB7-CLCNKA|HSPB7-CLCNKA|intergenic_region|HSPB7-CLCNKA|||n.16019240C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=766;p3_1000G_AF=0.152955;p3_1000G_AFR_AF=0.2905;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=19015;p3_1000G_EAS_AF=0.0923;p3_1000G_EUR_AF=0.0716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16345735;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1094,0,1201
chr1	16019514	rs3841842;rs397758991;rs570886659	G	GC	495.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.407;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=1.39;SOR=0.806;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3841842;dbSNPBuildID=142,107,138;ANN=GC|upstream_gene_variant|MODIFIER|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding||c.-1552_-1551insG|||||725|,GC|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.-3106_-3105insC|||||2476|,GC|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.-3106_-3105insC|||||2476|,GC|upstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.-3106_-3105insC|||||2476|,GC|intergenic_region|MODIFIER|HSPB7-CLCNKA|HSPB7-CLCNKA|intergenic_region|HSPB7-CLCNKA|||n.16019514_16019515insC||||||;p3_1000G_AA=CCCCC|CCCCC|CCCCCC|insertion;p3_1000G_AC=2165;p3_1000G_AF=0.432308;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=18046;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.4195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16346009;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:33,22:55:99:533,0,885
chr1	16022585	rs3738637	G	A	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=11.553;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.08;SOR=4.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738637;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|HSPB7|HSPB7|transcript|NM_014424.4|protein_coding||c.-4622C>T|||||3795|,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|1/19|c.-7-28G>A||||||,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|1/19|c.-7-28G>A||||||,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|1/18|c.-7-28G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=426;p3_1000G_AF=0.0850639;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=18907;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16349080;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=194,4108;ESP6500_AA_GTC=5,184,1962;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=30;ESP6500_EA_AC=468,7996;ESP6500_EA_GTC=13,442,3777;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:intron,NM_001257139.1:intron,NM_001042704.1:intron;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16022585;ESP6500_GTC=18,626,5739;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.-35G>A,NM_001257139.1:c.-35G>A,NM_001042704.1:c.-35G>A;ESP6500_MAF=5.5293,4.5095,5.1856;ESP6500_TAC=662,12104	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,7:14:99:1|0:16022583_C_A:207,0,213
chr1	16024711	rs9442215	C	T	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.522;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.459;MLEAC=1;MLEAF=0.5;MQ=59.68;MQRankSum=-0.884;QD=13.2;ReadPosRankSum=1.39;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9442215;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|3/19|c.230-52C>T||||||,T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|3/19|c.230-52C>T||||||,T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|3/18|c.229+783C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=538;p3_1000G_AF=0.107428;p3_1000G_AFR_AF=0.1248;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=19565;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16351206;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=191,1561;ESP6500_AA_GTC=8,175,693;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=29;ESP6500_EA_AC=263,3719;ESP6500_EA_GTC=9,245,1737;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:intron,NM_001257139.1:intron,NM_001042704.1:intron;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16024711;ESP6500_GTC=17,420,2430;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.230-52C>T,NM_001257139.1:c.229+783C>T,NM_001042704.1:c.230-52C>T;ESP6500_MAF=6.6047,10.9018,7.9177;ESP6500_TAC=454,5280	GT:AD:DP:GQ:PL	0/1:16,18:34:99:477,0,429
chr1	16024780	rs10927887	A	G	1745.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10927887;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|4/20|c.247A>G|p.Arg83Gly|327/2536|247/2064|83/687||,G|missense_variant|MODERATE|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|4/20|c.247A>G|p.Arg83Gly|327/2533|247/2061|83/686||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|3/18|c.229+852A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3220;p3_1000G_AF=0.642971;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=9165;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16351275;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3067,1339;ESP6500_AA_AGE=445.9+/-347.8;ESP6500_AA_GTC=1060,947,196;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=85;ESP6500_EA_AC=4748,3852;ESP6500_EA_AGE=542.8+/-384.3;ESP6500_EA_GTC=1336,2076,888;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:missense,NM_001257139.1:intron,NM_001042704.1:missense;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16024780;ESP6500_GS=125,.,125;ESP6500_GTC=2396,3023,1084;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.247A>G,NM_001257139.1:c.229+852A>G,NM_001042704.1:c.247A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004070.3:p.(R83G),.,NM_001042704.1:p.(R83G);ESP6500_MAF=44.7907,30.3904,39.9123;ESP6500_PH=benign:0.0,.,benign:0.0;ESP6500_TAC=7815,5191	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1774,168,0
chr1	16025997	rs11584665	G	A	727.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11584665;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|4/19|c.359-111G>A||||||,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|4/19|c.359-111G>A||||||,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|3/18|c.230-111G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2996;p3_1000G_AF=0.598243;p3_1000G_AFR_AF=0.6717;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=15229;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16352492;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:756,63,0
chr1	16026442	rs1010069	G	A	987.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=1.418;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1010069;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|5/19|c.499-94G>A||||||,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|5/19|c.499-94G>A||||||,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|4/18|c.370-94G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2996;p3_1000G_AF=0.598243;p3_1000G_AFR_AF=0.6717;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=11719;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16352937;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1016,102,0
chr1	16027785	rs10927889	G	C	641.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.944;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=5.947;MLEAC=1;MLEAF=0.5;MQ=37.35;MQRankSum=-2.043;QD=11.46;ReadPosRankSum=-0.228;SOR=0.239;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10927889;dbSNPBuildID=120;ANN=C|sequence_feature|LOW|CLCNKA|CLCNKA|metal-binding-site:Calcium|NM_004070.3|protein_coding|8/19|c.782-36G>C||||||,C|sequence_feature|LOW|CLCNKA|CLCNKA|metal-binding-site:Calcium|NM_001042704.1|protein_coding|8/19|c.782-36G>C||||||,C|sequence_feature|LOW|CLCNKA|CLCNKA|metal-binding-site:Calcium|NM_001257139.1|protein_coding|7/18|c.653-36G>C||||||,C|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|8/19|c.782-36G>C||||||,C|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|8/19|c.782-36G>C||||||,C|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|7/18|c.653-36G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3217;p3_1000G_AF=0.642372;p3_1000G_AFR_AF=0.6498;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=17835;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.5934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16354280;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,23:56:99:670,0,1171
chr1	16028147	rs398089145;rs78557747;~rs78557747	A	AT	567.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.73;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.514;SOR=1.708;INS;HET;VARTYPE=INS;dbSNP138_ID=rs78557747;dbSNPBuildID=137,138;ANN=AT|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|10/19|c.968+29dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|10/19|c.968+29dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|9/18|c.839+29dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=527;p3_1000G_AF=0.105232;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=14909;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16354642;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=INDEL;ESP6500_AA_AC=446,3818;ESP6500_AA_GTC=28,390,1714;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=85;ESP6500_EA_AC=508,7744;ESP6500_EA_GTC=20,468,3638;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:intron,NM_001257139.1:intron,NM_001042704.1:intron;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16028147;ESP6500_GTC=48,858,5352;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.968+28_968+29insT,NM_001257139.1:c.839+28_839+29insT,NM_001042704.1:c.968+28_968+29insT;ESP6500_MAF=6.1561,10.4597,7.6222;ESP6500_TAC=954,11562	GT:AD:DP:GQ:PL	0/1:16,19:35:99:605,0,494
chr1	16029143	rs79751787	T	A	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.777;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.66;MQRankSum=-1.367;QD=15.6;ReadPosRankSum=0.264;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79751787;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|12/20|c.1071T>A|p.His357Gln|1151/2536|1071/2064|357/687||,A|missense_variant|MODERATE|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|12/20|c.1071T>A|p.His357Gln|1151/2533|1071/2061|357/686||,A|missense_variant|MODERATE|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|11/19|c.942T>A|p.His314Gln|1022/2407|942/1935|314/644||;p3_1000G_AA=T|||;p3_1000G_AC=430;p3_1000G_AF=0.0858626;p3_1000G_AFR_AF=0.0439;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=14109;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16355638;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=203,4203;ESP6500_AA_AGE=120.0+/-157.7;ESP6500_AA_GTC=5,193,2005;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=32;ESP6500_EA_AC=522,8066;ESP6500_EA_AGE=141.2+/-197.6;ESP6500_EA_GTC=20,482,3792;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:missense,NM_001257139.1:missense,NM_001042704.1:missense;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16029143;ESP6500_GS=24,24,24;ESP6500_GTC=25,675,5797;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.1071T>A,NM_001257139.1:c.942T>A,NM_001042704.1:c.1071T>A;ESP6500_HGVS_PROTEIN_VAR=NM_004070.3:p.(H357Q),NM_001257139.1:p.(H314Q),NM_001042704.1:p.(H357Q);ESP6500_MAF=6.0782,4.6074,5.5795;ESP6500_PH=probably-damaging:0.989,probably-damaging:0.989,probably-damaging:0.989;ESP6500_TAC=725,12269	GT:AD:DP:GQ:PL	0/1:13,20:33:99:543,0,369
chr1	16030006	rs1805152	G	A	1426.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.12;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1805152;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|14/20|c.1339G>A|p.Ala447Thr|1419/2536|1339/2064|447/687||,A|missense_variant|MODERATE|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|14/20|c.1339G>A|p.Ala447Thr|1419/2533|1339/2061|447/686||,A|missense_variant|MODERATE|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|13/19|c.1210G>A|p.Ala404Thr|1290/2407|1210/1935|404/644||;p3_1000G_AA=G|||;p3_1000G_AC=3248;p3_1000G_AF=0.648562;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=17134;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.5577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16356501;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3140,1266;ESP6500_AA_AGE=696.7+/-406.1;ESP6500_AA_GTC=1113,914,176;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=0.3;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=54;ESP6500_EA_AC=4681,3919;ESP6500_EA_AGE=600.4+/-394.2;ESP6500_EA_GTC=1301,2079,920;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004070.3:missense,NM_001257139.1:missense,NM_001042704.1:missense;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16030006;ESP6500_GS=58,58,58;ESP6500_GTC=2414,2993,1096;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.1339G>A,NM_001257139.1:c.1210G>A,NM_001042704.1:c.1339G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004070.3:p.(A447T),NM_001257139.1:p.(A404T),NM_001042704.1:p.(A447T);ESP6500_MAF=45.5698,28.7335,39.8662;ESP6500_PH=benign:0.006,benign:0.006,benign:0.006;ESP6500_TAC=7821,5185	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1455,147,0
chr1	16030088	rs3737218	C	T	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.756;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.026;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737218;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|14/19|c.1408+13C>T||||||,T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|14/19|c.1408+13C>T||||||,T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|13/18|c.1279+13C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2095;p3_1000G_AF=0.418331;p3_1000G_AFR_AF=0.2988;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=17877;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.4085;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16356583;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1358,3048;ESP6500_AA_GTC=215,928,1060;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=29;ESP6500_EA_AC=3351,5249;ESP6500_EA_GTC=656,2039,1605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:intron,NM_001257139.1:intron,NM_001042704.1:intron;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16030088;ESP6500_GTC=871,2967,2665;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.1408+13C>T,NM_001257139.1:c.1279+13C>T,NM_001042704.1:c.1408+13C>T;ESP6500_MAF=38.9651,30.8216,36.2064;ESP6500_TAC=4709,8297	GT:AD:DP:GQ:PL	0/1:17,13:30:99:355,0,441
chr1	16031653	rs2015509	T	C	1489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2015509;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|15/19|c.1623-57T>C||||||,C|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|15/19|c.1623-57T>C||||||,C|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|14/18|c.1494-57T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3752;p3_1000G_AF=0.749201;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=16224;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16358148;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1518,132,0
chr1	16032190	rs6669935	C	G	644.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6669935;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|16/19|c.1757-13C>G||||||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|16/19|c.1757-13C>G||||||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|15/18|c.1628-13C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3439;p3_1000G_AF=0.686701;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=13935;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.5915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16358685;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2835,1569;ESP6500_AA_GTC=902,1031,269;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=4874,3720;ESP6500_EA_GTC=1403,2068,826;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:intron,NM_001257139.1:intron,NM_001042704.1:intron;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16032190;ESP6500_GTC=2305,3099,1095;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.1757-13C>G,NM_001257139.1:c.1628-13C>G,NM_001042704.1:c.1757-13C>G;ESP6500_MAF=43.286,35.6267,40.6909;ESP6500_TAC=7709,5289	GT:AD:DP:GQ:PL	1/1:0,21:21:63:673,63,0
chr1	16032437	rs10803407	T	C	1648.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10803407;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|17/19|c.1846-6T>C||||||,C|splice_region_variant&intron_variant|LOW|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|16/18|c.1717-6T>C||||||,C|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|17/19|c.1846-9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3751;p3_1000G_AF=0.749002;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=12872;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.669;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16358932;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3335,1071;ESP6500_AA_AGE=386.5+/-326.1;ESP6500_AA_GTC=1251,833,119;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=5707,2893;ESP6500_EA_AGE=450.5+/-362.4;ESP6500_EA_GTC=1905,1897,498;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:intron,NM_001257139.1:intron,NM_001042704.1:intron;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16032437;ESP6500_GTC=3156,2730,617;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.1846-6T>C,NM_001257139.1:c.1717-6T>C,NM_001042704.1:c.1846-9T>C;ESP6500_MAF=33.6395,24.3078,30.4782;ESP6500_TAC=9042,3964	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,52:52:99:1|1:16032437_T_C:1677,156,0
chr1	16032556	rs10927892	C	A	2726.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.4;SOR=0.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10927892;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|18/19|c.1929+30C>A||||||,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|18/19|c.1926+30C>A||||||,A|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|17/18|c.1800+30C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3246;p3_1000G_AF=0.648163;p3_1000G_AFR_AF=0.7489;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=12810;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.5577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16359051;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=854,3552;ESP6500_AA_GTC=309,236,1658;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=53;ESP6500_EA_AC=1020,7580;ESP6500_EA_GTC=347,326,3627;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:intron,NM_001257139.1:intron,NM_001042704.1:intron;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16032556;ESP6500_GTC=656,562,5285;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.1929+30C>A,NM_001257139.1:c.1800+30C>A,NM_001042704.1:c.1926+30C>A;ESP6500_MAF=11.8605,19.3827,14.4087;ESP6500_TAC=1874,11132	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,62:62:99:1|1:16032556_C_A:2755,187,0
chr1	16032557	rs10927893	A	G	2726.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=0.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10927893;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|18/19|c.1929+31A>G||||||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|18/19|c.1926+31A>G||||||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|17/18|c.1800+31A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3826;p3_1000G_AF=0.763978;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=12991;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16359052;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3835,571;ESP6500_AA_GTC=1860,115,228;ESP6500_CDS_SIZES=NM_004070.3:2064,NM_001257139.1:1935,NM_001042704.1:2061;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=51;ESP6500_EA_AC=7283,1317;ESP6500_EA_GTC=3437,409,454;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004070.3:intron,NM_001257139.1:intron,NM_001042704.1:intron;ESP6500_GL=CLCNKA;ESP6500_GRCh38_POSITION=1:16032557;ESP6500_GTC=5297,524,682;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004070.3:c.1929+31A>G,NM_001257139.1:c.1800+31A>G,NM_001042704.1:c.1926+31A>G;ESP6500_MAF=15.314,12.9596,14.5164;ESP6500_TAC=11118,1888	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,62:62:99:1|1:16032556_C_A:2755,187,0
chr1	16032611	rs10803408	C	T	1296.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.25;SOR=2.133;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10803408;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|18/19|c.1929+85C>T||||||,T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|18/19|c.1926+85C>T||||||,T|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|17/18|c.1800+85C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2964;p3_1000G_AF=0.591853;p3_1000G_AFR_AF=0.6581;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=11932;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.4801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16359106;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1325,117,0
chr1	16032628	rs9442217	A	G	773.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.889;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=30.95;ReadPosRankSum=-0.397;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9442217;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|18/19|c.1929+102A>G||||||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|18/19|c.1926+102A>G||||||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|17/18|c.1800+102A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3751;p3_1000G_AF=0.749002;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=13223;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16359123;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,24:25:36:802,36,0
chr1	16033332	rs3738633	A	G	1587.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.64;SOR=4.664;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738633;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding|19/19|c.2016+76A>G||||||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding|19/19|c.2013+76A>G||||||,G|intron_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding|18/18|c.1887+76A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2957;p3_1000G_AF=0.590455;p3_1000G_AFR_AF=0.6581;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=14268;p3_1000G_EAS_AF=0.7569;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16359827;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1616,127,0
chr1	16035421	rs11811753	G	A	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11811753;dbSNPBuildID=123;ANN=A|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.*1763G>A|||||1371|,A|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.*1763G>A|||||1371|,A|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.*1763G>A|||||1371|,A|intergenic_region|MODIFIER|CLCNKA-CLCNKB|CLCNKA-CLCNKB|intergenic_region|CLCNKA-CLCNKB|||n.16035421G>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	16036126	rs2009044	G	A	769.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.75;QD=32.07;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2009044;dbSNPBuildID=92;ANN=A|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.*2468G>A|||||2076|,A|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.*2468G>A|||||2076|,A|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.*2468G>A|||||2076|,A|intergenic_region|MODIFIER|CLCNKA-CLCNKB|CLCNKA-CLCNKB|intergenic_region|CLCNKA-CLCNKB|||n.16036126G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=12767;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16362621;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:798,72,0
chr1	16036166	rs3978493	A	C	1051.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.92;QD=30.05;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3978493;dbSNPBuildID=108;ANN=C|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.*2508A>C|||||2116|,C|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.*2508A>C|||||2116|,C|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.*2508A>C|||||2116|,C|intergenic_region|MODIFIER|CLCNKA-CLCNKB|CLCNKA-CLCNKB|intergenic_region|CLCNKA-CLCNKB|||n.16036166A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3057;p3_1000G_AF=0.610423;p3_1000G_AFR_AF=0.4697;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=14155;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.5447;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16362661;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1080,105,0
chr1	16036217	rs2018430	C	T	871.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=6.235;MLEAC=1;MLEAF=0.5;MQ=59.35;MQRankSum=-1.367;QD=19.37;ReadPosRankSum=-0.098;SOR=1.015;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2018430;dbSNPBuildID=123;ANN=T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.*2559C>T|||||2167|,T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.*2559C>T|||||2167|,T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.*2559C>T|||||2167|,T|intergenic_region|MODIFIER|CLCNKA-CLCNKB|CLCNKA-CLCNKB|intergenic_region|CLCNKA-CLCNKB|||n.16036217C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=661;p3_1000G_AF=0.131989;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=14678;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16362712;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,23:45:99:0|1:16036217_C_T:900,0,855
chr1	16036224	rs74057559	C	T	868.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.208;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=4.246;MLEAC=1;MLEAF=0.5;MQ=59.34;MQRankSum=-0.616;QD=18.89;ReadPosRankSum=1.46;SOR=1.053;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74057559;dbSNPBuildID=130;ANN=T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.*2566C>T|||||2174|,T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.*2566C>T|||||2174|,T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.*2566C>T|||||2174|,T|intergenic_region|MODIFIER|CLCNKA-CLCNKB|CLCNKA-CLCNKB|intergenic_region|CLCNKA-CLCNKB|||n.16036224C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=751;p3_1000G_AF=0.14996;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=15118;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.1143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16362719;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,23:46:99:0|1:16036217_C_T:897,0,876
chr1	16036742	rs11557063	C	T	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.943;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.361;MLEAC=1;MLEAF=0.5;MQ=48.6;MQRankSum=-3.418;QD=2.39;ReadPosRankSum=1.66;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143626665;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_004070.3|protein_coding||c.*3084C>T|||||2692|,T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001042704.1|protein_coding||c.*3084C>T|||||2692|,T|downstream_gene_variant|MODIFIER|CLCNKA|CLCNKA|transcript|NM_001257139.1|protein_coding||c.*3084C>T|||||2692|,T|intergenic_region|MODIFIER|CLCNKA-CLCNKB|CLCNKA-CLCNKB|intergenic_region|CLCNKA-CLCNKB|||n.16036742C>T||||||	GT:AD:DP:GQ:PL	0/1:35,10:45:99:136,0,987
chr1	16039672	rs2019654	G	A	682.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.94;QD=31.03;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2019654;dbSNPBuildID=92;ANN=A|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.-4821G>A|||||4064|,A|intergenic_region|MODIFIER|CLCNKA-CLCNKB|CLCNKA-CLCNKB|intergenic_region|CLCNKA-CLCNKB|||n.16039672G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3596;p3_1000G_AF=0.718051;p3_1000G_AFR_AF=0.7005;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=15500;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16366167;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:711,66,0
chr1	16039739	rs1815526	T	G	190.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.35;QD=31.81;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1815526;dbSNPBuildID=92;ANN=G|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.-4754T>G|||||3997|,G|intergenic_region|MODIFIER|CLCNKA-CLCNKB|CLCNKA-CLCNKB|intergenic_region|CLCNKA-CLCNKB|||n.16039739T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4515;p3_1000G_AF=0.901558;p3_1000G_AFR_AF=0.7882;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=10843;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16366234;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:219,18,0
chr1	16045787	rs67016480	GT	G	49.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67016480,rs13306240;dbSNPBuildID=130;ANN=G|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-3184delT|||||2974|,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|3/19|c.229+102delT||||||;p3_1000G_AA=?|T|-|unsure;p3_1000G_AC=1800;p3_1000G_AF=0.359425;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=11978;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16372282;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:16045787_GT_G:86,9,0
chr1	16046476	rs2014841	G	A	1050.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2014841;dbSNPBuildID=92;ANN=A|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-2496G>A|||||2286|,A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|3/19|c.230-59G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3708;p3_1000G_AF=0.740415;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=18363;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.832;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16372971;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1079,96,0
chr1	16046629	rs5257;447104	A	G	2174.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5257;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|4/20|c.324A>G|p.Ser108Ser|476/2626|324/2064|108/687||,G|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-2343A>G|||||2133|;p3_1000G_AA=A|||;p3_1000G_AC=3708;p3_1000G_AF=0.740415;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=19914;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.832;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16373124;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1761,2645;ESP6500_AA_AGE=521.2+/-370.5;ESP6500_AA_GTC=361,1039,803;ESP6500_CDS_SIZES=NM_000085.4:2064;ESP6500_CG=-8.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=99;ESP6500_EA_AC=6981,1619;ESP6500_EA_AGE=742.1+/-407.2;ESP6500_EA_GTC=2839,1303,158;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000085.4:coding-synonymous;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16046629;ESP6500_GTC=3200,2342,961;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000085.4:c.324A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000085.4:p.(S108);ESP6500_MAF=18.8256,39.9682,32.7849;ESP6500_TAC=8742,4264;CLINVAR_ALLELEID=440387;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16046629A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5257	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2203,210,0
chr1	16046704	rs35820664;rs375546236	CCTT	C	1627.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33;SOR=1.802;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs375546236,rs35820664;dbSNPBuildID=131,138;ANN=C|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-2267_-2265delCTT|||||2057|,C|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|4/19|c.358+44_358+46delTCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3623;p3_1000G_AF=0.723442;p3_1000G_AFR_AF=0.2897;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=20346;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.8062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16373199;p3_1000G_GRCH37_REF=CCTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=INDEL;ESP6500_AA_AC=1605,2661;ESP6500_AA_GTC=312,981,840;ESP6500_CDS_SIZES=NM_000085.4:2064;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=39;ESP6500_EA_AC=6435,1817;ESP6500_EA_GTC=2519,1397,210;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000085.4:intron;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16046704;ESP6500_GTC=2831,2378,1050;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000085.4:c.358+42_358+44del3;ESP6500_MAF=22.0189,37.6231,35.7725;ESP6500_TAC=8040,4478	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1665,111,0
chr1	16047835	rs945403	A	G	1134.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs945403;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-1137A>G|||||927|,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|4/19|c.359-70A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4214;p3_1000G_AF=0.841454;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=19159;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16374330;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1163,105,0
chr1	16048038	rs2014562;447105	G	C	1479.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=1.659;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2014562;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|5/20|c.492G>C|p.Gly164Gly|644/2626|492/2064|164/687||,C|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-934G>C|||||724|;p3_1000G_AA=C|||;p3_1000G_AC=4477;p3_1000G_AF=0.89397;p3_1000G_AFR_AF=0.7231;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=14592;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9394;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16374533;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3372,1034;ESP6500_AA_GTC=1285,802,116;ESP6500_CDS_SIZES=NM_000085.4:2064;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=68;ESP6500_EA_AC=8053,547;ESP6500_EA_GTC=3770,513,17;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000085.4:coding-synonymous;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16048038;ESP6500_GTC=5055,1315,133;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000085.4:c.492G>C;ESP6500_HGVS_PROTEIN_VAR=NM_000085.4:p.(G164);ESP6500_MAF=6.3605,23.468,12.1559;ESP6500_TAC=11425,1581;CLINVAR_ALLELEID=440388;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16048038G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2014562	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1508,141,0
chr1	16048127	rs2863440	C	G	751.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2863440;dbSNPBuildID=101;ANN=G|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-845C>G|||||635|,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|5/19|c.498+83C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3709;p3_1000G_AF=0.740615;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=14622;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.832;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16374622;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:780,57,0
chr1	16048161	rs2902490	A	G	685.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.29;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2902490;dbSNPBuildID=101;ANN=G|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-811A>G|||||601|,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|5/19|c.498+117A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3707;p3_1000G_AF=0.740216;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=14676;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.832;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16374656;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:714,60,0
chr1	16048499	rs1889788;rs34666902;381050	C	T	1774.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.74;QD=32.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1889788;dbSNPBuildID=92,126;ANN=T|splice_region_variant&intron_variant|LOW|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|6/19|c.577-5C>T||||||,T|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-473C>T|||||263|;p3_1000G_AA=C|||;p3_1000G_AC=3699;p3_1000G_AF=0.738618;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=14244;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.832;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16374994;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP;CLINVAR_ALLELEID=364523;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16048499C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1889788|34666902	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1803,162,0
chr1	16048568	rs1889789;rs45612832;504916	C	G	2041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.42;QD=29.37;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1889789;dbSNPBuildID=127,92;ANN=G|missense_variant|MODERATE|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|7/20|c.641C>G|p.Ala214Gly|793/2626|641/2064|214/687||,G|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-404C>G|||||194|;p3_1000G_AA=G|||;p3_1000G_AC=4143;p3_1000G_AF=0.827276;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=12598;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16375063;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP;CLINVAR_ALLELEID=496605;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16048568C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=45612832|1889789	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:16048568_C_G:2070,138,0
chr1	16048569	rs1889790;rs45575235;504915	A	C	2041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.42;QD=31.53;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1889790;dbSNPBuildID=92,127;ANN=C|synonymous_variant|LOW|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|7/20|c.642A>C|p.Ala214Ala|794/2626|642/2064|214/687||,C|upstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.-403A>C|||||193|;p3_1000G_AA=C|||;p3_1000G_AC=4143;p3_1000G_AF=0.827276;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=12651;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16375064;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP;CLINVAR_ALLELEID=496567;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16048569A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1889790|45575235	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:16048568_C_G:2070,138,0
chr1	16048859	rs9442227	C	T	872.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9442227;dbSNPBuildID=119;ANN=T|5_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|1/13|c.-113C>T|||||113|,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|7/19|c.656-261C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3643;p3_1000G_AF=0.727436;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=15659;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16375354;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:901,84,0
chr1	16049343	rs7545067	C	G	722.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7545067;dbSNPBuildID=116;ANN=G|sequence_feature|LOW|CLCNKB|CLCNKB|metal-binding-site:Calcium|NM_000085.4|protein_coding|8/19|c.781+98C>G||||||,G|sequence_feature|LOW|CLCNKB|CLCNKB|metal-binding-site:Calcium|NM_001165945.2|protein_coding|1/12|c.274+98C>G||||||,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|8/19|c.781+98C>G||||||,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|1/12|c.274+98C>G||||||	GT:AD:DP:GQ:PL	1/1:0,21:21:63:751,63,0
chr1	16049696	rs34188929;rs7367494;447108	C	T	1809.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.044;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=3.559;MLEAC=2;MLEAF=1;MQ=45.72;MQRankSum=0.462;QD=30.67;ReadPosRankSum=-0.911;SOR=0.673;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7367494;dbSNPBuildID=116,126;ANN=T|missense_variant|MODERATE|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|9/20|c.860C>T|p.Ala287Val|1012/2626|860/2064|287/687||,T|missense_variant|MODERATE|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|2/13|c.353C>T|p.Ala118Val|563/2174|353/1554|118/517||;p3_1000G_AA=T|||;p3_1000G_AC=4156;p3_1000G_AF=0.829872;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=13669;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9384;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16376191;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;CLINVAR_ALLELEID=440389;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16049696C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34188929|7367494	GT:AD:DP:GQ:PL	1/1:1,58:59:99:1838,140,0
chr1	16049735	rs59006537;~rs35469726	A	AT	2850.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.17;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=3.148;MLEAC=2;MLEAF=1;MQ=53.26;MQRankSum=1.32;QD=28.93;ReadPosRankSum=1.22;SOR=0.374;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59006537;dbSNPBuildID=129;ANN=AT|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|9/19|c.866+33_866+34insT||||||,AT|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|2/12|c.359+33_359+34insT||||||;ESP6500_AA_AC=2250,2012;ESP6500_AA_GTC=704,842,585;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=29;ESP6500_EA_AC=7442,748;ESP6500_EA_GTC=3486,470,139;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001165945.2:intron,NM_000085.4:intron;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16049735;ESP6500_GTC=4190,1312,724;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.359+33_359+34insT,NM_000085.4:c.866+33_866+34insT;ESP6500_MAF=9.1331,47.2079,22.1651;ESP6500_TAC=9692,2760	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,63:64:99:1|1:16049735_A_AT:2888,161,0
chr1	16049737	rs59924562	A	T	2859.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.769;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.76;MQRankSum=1.36;QD=28.8;ReadPosRankSum=1.24;SOR=0.223;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs59924562;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|9/19|c.866+35A>T||||||,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|2/12|c.359+35A>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=3777;p3_1000G_AF=0.754193;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=11392;p3_1000G_EAS_AF=0.8224;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16376232;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8569;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,66:67:99:1|1:16049735_A_AT:2888,161,0
chr1	16049743	rs34589727;rs796211746	TC	T	1992.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.223;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.12;MQRankSum=1.49;QD=30.19;ReadPosRankSum=1.58;SOR=0.291;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34589727;dbSNPBuildID=137,146;ANN=T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|9/19|c.866+47delC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|2/12|c.359+47delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|CCCCCC|CCCCC|unsure;p3_1000G_AC=4157;p3_1000G_AF=0.830072;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=11630;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16376238;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,65:66:99:2030,167,0
chr1	16049783	rs7365182	G	A	2270.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.66;QD=33.39;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7365182;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|9/19|c.867-32G>A||||||,A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|2/12|c.360-32G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4146;p3_1000G_AF=0.827875;p3_1000G_AFR_AF=0.4856;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=12956;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9384;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16376278;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2524,1882;ESP6500_AA_AGE=544.2+/-376.5;ESP6500_AA_GTC=725,1074,404;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=128;ESP6500_EA_AC=8045,555;ESP6500_EA_AGE=150.9+/-205.7;ESP6500_EA_GTC=3763,519,18;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001165945.2:intron,NM_000085.4:intron;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16049783;ESP6500_GTC=4488,1593,422;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.360-32G>A,NM_000085.4:c.867-32G>A;ESP6500_MAF=6.4535,42.7145,18.7375;ESP6500_TAC=10569,2437	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2299,204,0
chr1	16049824	rs7368151;377683	T	C	1747.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.21;ReadPosRankSum=1.59;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7368151;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|10/20|c.876T>C|p.Cys292Cys|1028/2626|876/2064|292/687||,C|synonymous_variant|LOW|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|3/13|c.369T>C|p.Cys123Cys|579/2174|369/1554|123/517||;p3_1000G_AA=C|||;p3_1000G_AC=4157;p3_1000G_AF=0.830072;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=15344;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9384;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16376319;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2557,1849;ESP6500_AA_GTC=749,1059,395;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=-9.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=174;ESP6500_EA_AC=8044,556;ESP6500_EA_GTC=3762,520,18;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001165945.2:coding-synonymous,NM_000085.4:coding-synonymous;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16049824;ESP6500_GTC=4511,1579,413;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.369T>C,NM_000085.4:c.876T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001165945.2:p.(C123),NM_000085.4:p.(C292);ESP6500_MAF=6.4651,41.9655,18.4915;ESP6500_TAC=10601,2405;CLINVAR_ALLELEID=364524;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16049824T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7368151	GT:AD:DP:GQ:PL	1/1:2,54:56:99:1776,119,0
chr1	16049963	rs7368166	T	C	701.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7368166;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|10/19|c.968+47T>C||||||,C|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|3/12|c.461+47T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4157;p3_1000G_AF=0.830072;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=11730;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16376458;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2437,1969;ESP6500_AA_GTC=749,939,515;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=7999,599;ESP6500_EA_GTC=3762,475,62;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001165945.2:intron,NM_000085.4:intron;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16049963;ESP6500_GTC=4511,1414,577;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.461+47T>C,NM_000085.4:c.968+47T>C;ESP6500_MAF=6.9667,44.6891,19.7478;ESP6500_TAC=10436,2568	GT:AD:DP:GQ:PL	1/1:0,18:18:54:730,54,0
chr1	16052154	rs2297726	C	G	1154.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297726;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|14/19|c.1409-44C>G||||||,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|7/12|c.902-44C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=814;p3_1000G_AF=0.16254;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=19410;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16378649;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=322,4084;ESP6500_AA_GTC=15,292,1896;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=1436,7162;ESP6500_EA_GTC=123,1190,2986;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001165945.2:intron,NM_000085.4:intron;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16052154;ESP6500_GTC=138,1482,4882;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.902-44C>G,NM_000085.4:c.1409-44C>G;ESP6500_MAF=16.7016,7.3082,13.5189;ESP6500_TAC=1758,11246	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1183,96,0
chr1	16052513	rs2050522	C	T	318.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.31;QD=31.88;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2050522;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|15/19|c.1622+102C>T||||||,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|8/12|c.1115+102C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3752;p3_1000G_AF=0.749201;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=19173;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16379008;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:347,30,0
chr1	16052520	rs199907733;rs370813706;rs372585550	G	GGGGGCTGGGA	276.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.05;QD=28.07;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs199907733;dbSNPBuildID=137,138,138;ANN=GGGGGCTGGGA|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|15/19|c.1622+116_1622+117insGGAGGGGCTG||||||INFO_REALIGN_3_PRIME,GGGGGCTGGGA|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|8/12|c.1115+116_1115+117insGGAGGGGCTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=848;p3_1000G_AF=0.169329;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=19853;p3_1000G_EAS_AF=0.2837;p3_1000G_EUR_AF=0.1879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16379015;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:314,21,0
chr1	16053701	rs5253;447094	T	C	1533.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.246;ClippingRankSum=0;DP=125;ExcessHet=3.0103;FS=1.45;MLEAC=1;MLEAF=0.5;MQ=58.01;MQRankSum=-4.94;QD=12.37;ReadPosRankSum=-1.497;SOR=0.538;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5253;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|16/20|c.1685T>C|p.Met562Thr|1837/2626|1685/2064|562/687||,C|missense_variant|MODERATE|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|9/13|c.1178T>C|p.Met393Thr|1388/2174|1178/1554|393/517||,C|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*4736A>G|||||4068|;p3_1000G_AA=T|||;p3_1000G_AC=4198;p3_1000G_AF=0.838259;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=18785;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.9692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16380196;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3087,1319;ESP6500_AA_AGE=693.3+/-405.7;ESP6500_AA_GTC=1085,917,201;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=87;ESP6500_EA_AC=8462,134;ESP6500_EA_AGE=812.0+/-407.1;ESP6500_EA_GTC=4165,132,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001165945.2:missense,NM_000085.4:missense;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16053701;ESP6500_GS=81,81;ESP6500_GTC=5250,1049,202;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.1178T>C,NM_000085.4:c.1685T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001165945.2:p.(M393T),NM_000085.4:p.(M562T);ESP6500_MAF=1.5589,29.9365,11.1752;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11549,1453;CLINVAR_ALLELEID=440394;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16053701T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5253	GT:AD:DP:GQ:PL	0/1:58,66:124:99:1562,0,1304
chr1	16053748	rs2275166;447096	A	G	1711.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.42;MQRankSum=-5.746;QD=20.38;ReadPosRankSum=-0.131;SOR=0.711;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275166;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|16/20|c.1732A>G|p.Lys578Glu|1884/2626|1732/2064|578/687||,G|missense_variant|MODERATE|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|9/13|c.1225A>G|p.Lys409Glu|1435/2174|1225/1554|409/517||,G|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*4689T>C|||||4021|;p3_1000G_AA=G|||;p3_1000G_AC=3514;p3_1000G_AF=0.701677;p3_1000G_AFR_AF=0.82;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=18861;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.6262;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16380243;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3522,884;ESP6500_AA_GTC=1407,708,88;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=1.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=5593,3007;ESP6500_EA_GTC=1836,1921,543;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001165945.2:missense,NM_000085.4:missense;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16053748;ESP6500_GS=56,56;ESP6500_GTC=3243,2629,631;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.1225A>G,NM_000085.4:c.1732A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001165945.2:p.(K409E),NM_000085.4:p.(K578E);ESP6500_MAF=34.9651,20.0635,29.917;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9115,3891;CLINVAR_ALLELEID=440395;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16053748A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2275166	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,45:84:99:0|1:16053748_A_G:1740,0,1798
chr1	16053757	rs2275167;447097	C	T	1593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.317;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0.911;MLEAC=1;MLEAF=0.5;MQ=55.92;MQRankSum=-5.687;QD=21.54;ReadPosRankSum=-0.474;SOR=0.574;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275167;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|16/20|c.1741C>T|p.Leu581Leu|1893/2626|1741/2064|581/687||,T|synonymous_variant|LOW|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|9/13|c.1234C>T|p.Leu412Leu|1444/2174|1234/1554|412/517||,T|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*4680G>A|||||4012|;p3_1000G_AA=C|||;p3_1000G_AC=3073;p3_1000G_AF=0.613618;p3_1000G_AFR_AF=0.5734;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=18903;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.6123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16380252;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2552,1854;ESP6500_AA_GTC=757,1038,408;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=1.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=75;ESP6500_EA_AC=5399,3201;ESP6500_EA_GTC=1760,1879,661;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001165945.2:coding-synonymous,NM_000085.4:coding-synonymous;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16053757;ESP6500_GTC=2517,2917,1069;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.1234C>T,NM_000085.4:c.1741C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001165945.2:p.(L412),NM_000085.4:p.(L581);ESP6500_MAF=37.2209,42.079,38.8667;ESP6500_TAC=7951,5055;CLINVAR_ALLELEID=440396;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16053757C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2275167	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,41:74:99:0|1:16053748_A_G:1622,0,1687
chr1	16053908	rs2275168	A	T	197.88	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.16;MQRankSum=-0.366;QD=28.27;ReadPosRankSum=1.47;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275168;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*4529T>A|||||3861|,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|16/19|c.1756+136A>T||||||,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|9/12|c.1249+136A>T||||||;p3_1000G_AA=N|||;p3_1000G_AC=2628;p3_1000G_AF=0.52476;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=20101;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.6103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16380403;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,6:7:16:226,0,16
chr1	16055297	rs12047858	T	A	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-1.333;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12047858;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*3140A>T|||||2472|,A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|16/19|c.1757-138T>A||||||,A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|9/12|c.1250-138T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2293;p3_1000G_AF=0.457867;p3_1000G_AFR_AF=0.2474;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=20114;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.4463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16381792;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:347,0,240
chr1	16055321	rs12029508	C	T	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.866;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.467;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.192;SOR=2.044;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12029508;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*3116G>A|||||2448|,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|16/19|c.1757-114C>T||||||,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|9/12|c.1250-114C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2293;p3_1000G_AF=0.457867;p3_1000G_AFR_AF=0.2474;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=20025;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.4463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16381816;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,15:27:99:425,0,359
chr1	16055591	rs2297727	C	T	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.335;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.309;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297727;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*2846G>A|||||2178|,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|17/19|c.1845+68C>T||||||,T|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|10/12|c.1338+68C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2297;p3_1000G_AF=0.458666;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=10968;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16382086;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:164,0,193
chr1	16056296	rs12023153	G	C	856.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.589;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-1.663;SOR=0.394;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12023153;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*2141C>G|||||1473|,C|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|18/19|c.1930-126G>C||||||,C|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|11/12|c.1420-126G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2292;p3_1000G_AF=0.457668;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=14767;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16382791;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,29:55:99:885,0,924
chr1	16056332	rs77508204;rs777516414	CTCT	C	1750.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.453;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=2.065;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.6;ReadPosRankSum=0.35;SOR=0.433;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs77508204;dbSNPBuildID=135,144;ANN=C|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*2102_*2104delAGA|||||1436|,C|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|18/19|c.1930-87_1930-85delTTC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|11/12|c.1420-87_1420-85delTTC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2016;p3_1000G_AF=0.402556;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=15546;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16382827;p3_1000G_GRCH37_REF=CTCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:40,45:85:99:0|1:16056332_CTCT_C:1788,0,1563
chr1	16056336	rs61769890	T	A	1759.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.667;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=2.065;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=1.07;SOR=0.433;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61769890;dbSNPBuildID=129;ANN=A|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*2101A>T|||||1433|,A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|18/19|c.1930-86T>A||||||,A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|11/12|c.1420-86T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2016;p3_1000G_AF=0.402556;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=13800;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16382831;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:40,45:85:99:0|1:16056332_CTCT_C:1788,0,1563
chr1	16056339	rs61769891	T	A	1756.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.102;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=0.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.96;ReadPosRankSum=-1.532;SOR=0.519;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61769891;dbSNPBuildID=129;ANN=A|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*2098A>T|||||1430|,A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|18/19|c.1930-83T>A||||||,A|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|11/12|c.1420-83T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2017;p3_1000G_AF=0.402756;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=14109;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16382834;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:42,46:88:99:0|1:16056332_CTCT_C:1785,0,1584
chr1	16056382	rs7517792	A	G	1405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.087;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=2.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.69;SOR=0.505;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7517792;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*2055T>C|||||1387|,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|18/19|c.1930-40A>G||||||,G|intron_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|11/12|c.1420-40A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3927;p3_1000G_AF=0.784145;p3_1000G_AFR_AF=0.6982;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=14967;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16382877;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8344;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3110,1296;ESP6500_AA_GTC=1105,900,198;ESP6500_CDS_SIZES=NM_001165945.2:1554,NM_000085.4:2064;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=111;ESP6500_EA_AC=6800,1800;ESP6500_EA_GTC=2680,1440,180;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001165945.2:intron,NM_000085.4:intron;ESP6500_GL=CLCNKB;ESP6500_GRCh38_POSITION=1:16056382;ESP6500_GTC=3785,2340,378;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001165945.2:c.1420-40A>G,NM_000085.4:c.1930-40A>G;ESP6500_MAF=20.9302,29.4144,23.8044;ESP6500_TAC=9910,3096	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1434,0,1296
chr1	16057079	rs1057841	A	T	80.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=37.98;MQRankSum=-1.03;QD=7.34;ReadPosRankSum=-0.309;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057841;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|20/20|c.*163A>T|||||163|,T|3_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|13/13|c.*163A>T|||||163|,T|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*1358T>A|||||690|	GT:AD:DP:GQ:PL	0/1:7,4:11:99:109,0,218
chr1	16057173	rs6660218	T	G	1645.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.92;QD=29.04;SOR=1.251;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6660218;dbSNPBuildID=116;ANN=G|3_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|20/20|c.*257T>G|||||257|,G|3_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|13/13|c.*257T>G|||||257|,G|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*1264A>C|||||596|;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21574;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16383668;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1674,144,0
chr1	16057187	rs1057854;402540	G	C	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.423;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.79;MLEAC=1;MLEAF=0.5;MQ=54.75;MQRankSum=-1.092;QD=4.74;ReadPosRankSum=0.472;SOR=1.314;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057854;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|20/20|c.*271G>C|||||271|,C|3_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|13/13|c.*271G>C|||||271|,C|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*1250C>G|||||582|;CLINVAR_ALLELEID=389333;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16057187G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CLCNKB:1188|LOC106501713:106501713;CLINVAR_ORIGIN=1;CLINVAR_RS=1057854	GT:AD:DP:GQ:PL	0/1:40,14:54:99:284,0,1069
chr1	16057247	rs1057857	C	G	109.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.523;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.54;MQRankSum=0.474;QD=1.69;ReadPosRankSum=0.37;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057857;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding|20/20|c.*331C>G|||||331|,G|3_prime_UTR_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding|13/13|c.*331C>G|||||331|,G|downstream_gene_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding||c.*1190G>C|||||522|	GT:AD:DP:GQ:PL	0/1:53,12:65:99:138,0,1484
chr1	16058289	rs2019490	A	G	566.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.443;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.32;MQRankSum=0.146;QD=17.17;ReadPosRankSum=-0.762;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2019490;dbSNPBuildID=92;ANN=G|3_prime_UTR_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|7/7|c.*148T>C|||||148|,G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1373A>G|||||963|,G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1373A>G|||||963|;p3_1000G_AA=G|||;p3_1000G_AC=3893;p3_1000G_AF=0.777356;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=22681;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.7823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16384784;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,23:33:99:595,0,212
chr1	16058306	rs6656097	C	T	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.722;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.55;MQRankSum=0.884;QD=16.84;ReadPosRankSum=-0.992;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6656097;dbSNPBuildID=116;ANN=T|3_prime_UTR_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|7/7|c.*131G>A|||||131|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1390C>T|||||980|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1390C>T|||||980|	GT:AD:DP:GQ:PL	0/1:10,22:32:99:567,0,242
chr1	16058373	rs12756288	G	A	598.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.375;MLEAC=1;MLEAF=0.5;MQ=56.02;MQRankSum=-1.432;QD=13.92;ReadPosRankSum=-0.212;SOR=1.024;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12756288;dbSNPBuildID=121;ANN=A|3_prime_UTR_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|7/7|c.*64C>T|||||64|,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1457G>A|||||1047|,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1457G>A|||||1047|	GT:AD:DP:GQ:PL	0/1:18,25:43:99:627,0,415
chr1	16058491	rs28496958	G	T	1042.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.351;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.33;MQRankSum=-3.774;QD=23.17;ReadPosRankSum=0.165;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28496958;dbSNPBuildID=125;ANN=T|synonymous_variant|LOW|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|7/7|c.789C>A|p.Leu263Leu|979/1701|789/843|263/280||,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1575G>T|||||1165|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1575G>T|||||1165|	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,27:45:99:0|1:16058491_G_T:1071,0,1086
chr1	16058503	rs1807285	G	C	1009.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.759;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.54;MQRankSum=-3.681;QD=22.95;ReadPosRankSum=-0.749;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1807285;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|7/7|c.777C>G|p.Pro259Pro|967/1701|777/843|259/280||,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1587G>C|||||1177|,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1587G>C|||||1177|;p3_1000G_AA=C|||;p3_1000G_AC=1887;p3_1000G_AF=0.376797;p3_1000G_AFR_AF=0.4032;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=19381;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16384998;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,26:44:99:0|1:16058491_G_T:1038,0,1089
chr1	16058504	rs1807284	G	A	1009.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.173;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.54;MQRankSum=-3.681;QD=22.95;ReadPosRankSum=-0.861;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1807284;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|7/7|c.776C>T|p.Pro259Leu|966/1701|776/843|259/280||,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1588G>A|||||1178|,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1588G>A|||||1178|;p3_1000G_AA=A|||;p3_1000G_AC=1887;p3_1000G_AF=0.376797;p3_1000G_AFR_AF=0.4032;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=19329;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16384999;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,26:44:99:0|1:16058491_G_T:1038,0,1089
chr1	16058547	rs77667563	G	A	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.799;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=14.193;MLEAC=1;MLEAF=0.5;MQ=55.75;MQRankSum=-2.826;QD=12.87;ReadPosRankSum=-0.602;SOR=1.438;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77667563;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|7/7|c.733C>T|p.Arg245Trp|923/1701|733/843|245/280||,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1631G>A|||||1221|,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1631G>A|||||1221|	GT:AD:DP:GQ:PL	0/1:17,16:33:99:453,0,493
chr1	16058680	rs17853748	G	A	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.794;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=4.856;MLEAC=1;MLEAF=0.5;MQ=48.93;MQRankSum=-4.599;QD=4.88;ReadPosRankSum=0;SOR=1.401;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17853748;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|7/7|c.600C>T|p.Ser200Ser|790/1701|600/843|200/280||,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1764G>A|||||1354|,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1764G>A|||||1354|	GT:AD:DP:GQ:PL	0/1:38,12:50:99:272,0,1111
chr1	16058753	rs74054903	C	T	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.407;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.97;MQRankSum=-5.076;QD=11.77;ReadPosRankSum=-0.929;SOR=0.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74054903;dbSNPBuildID=130;ANN=T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1837C>T|||||1427|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1837C>T|||||1427|,T|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|6/6|c.563-36G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2995;p3_1000G_AF=0.598043;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=19315;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.5795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16385248;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,11:31:99:0|1:16058753_C_T:393,0,811
chr1	16058755	rs74054904	A	G	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.18;MQRankSum=-4.968;QD=12.16;ReadPosRankSum=-0.748;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74054904;dbSNPBuildID=130;ANN=G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1839A>G|||||1429|,G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1839A>G|||||1429|,G|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|6/6|c.563-38T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2995;p3_1000G_AF=0.598043;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=19234;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.5795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16385250;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,10:30:99:0|1:16058753_C_T:393,0,811
chr1	16058828	rs77017249	A	G	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.77;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.63;ReadPosRankSum=0.333;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77017249;dbSNPBuildID=131;ANN=G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1912A>G|||||1502|,G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1912A>G|||||1502|,G|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|6/6|c.563-111T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,3:14:93:0|1:16058828_A_G:93,0,433
chr1	16058835	rs3978476	G	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.06;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.21;ReadPosRankSum=1.01;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3978476;dbSNPBuildID=108;ANN=T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*1919G>T|||||1509|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*1919G>T|||||1509|,T|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|6/6|c.563-118C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,3:13:96:0|1:16058828_A_G:96,0,411
chr1	16059302	rs3978478	C	G	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.73;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.57;MQRankSum=-2.211;QD=7.41;ReadPosRankSum=0.941;SOR=0.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3978478;dbSNPBuildID=108;ANN=G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*2386C>G|||||1976|,G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*2386C>G|||||1976|,G|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|6/6|c.562+192G>C||||||	GT:AD:DP:GQ:PL	0/1:10,4:14:99:132,0,381
chr1	16059485	rs3884058	G	A	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.539;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.85;MLEAC=1;MLEAF=0.5;MQ=58.23;MQRankSum=-2.734;QD=10.72;ReadPosRankSum=-0.946;SOR=0.309;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3884058;dbSNPBuildID=114;ANN=A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*2569G>A|||||2159|,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*2569G>A|||||2159|,A|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|6/6|c.562+9C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3581;p3_1000G_AF=0.715056;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=15898;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.7644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16385980;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2042,1860;ESP6500_AA_GTC=529,984,438;ESP6500_CDS_SIZES=NM_182623.2:843;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=23;ESP6500_EA_AC=6202,2072;ESP6500_EA_GTC=2308,1586,243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182623.2:intron;ESP6500_GL=FAM131C;ESP6500_GRCh38_POSITION=1:16059485;ESP6500_GTC=2837,2570,681;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182623.2:c.562+9C>T;ESP6500_MAF=25.0423,47.6679,32.293;ESP6500_TAC=8244,3932	GT:AD:DP:GQ:PL	0/1:27,28:55:99:618,0,672
chr1	16059513	rs2863452	T	C	713.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.083;MLEAC=1;MLEAF=0.5;MQ=56.46;MQRankSum=-1.464;QD=13.47;ReadPosRankSum=1.99;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2863452;dbSNPBuildID=101;ANN=C|synonymous_variant|LOW|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|6/7|c.543A>G|p.Gln181Gln|733/1701|543/843|181/280||,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*2597T>C|||||2187|,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*2597T>C|||||2187|;p3_1000G_AA=C|||;p3_1000G_AC=3614;p3_1000G_AF=0.721645;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=13138;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16386008;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,28:53:99:742,0,555
chr1	16059752	rs2095543	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.05;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=48.64;MQRankSum=-2.655;QD=9.53;ReadPosRankSum=-0.03;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2095543;dbSNPBuildID=96;ANN=C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*2836T>C|||||2426|,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*2836T>C|||||2426|,C|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|5/6|c.451+117A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4591;p3_1000G_AF=0.916733;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=8719;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16386247;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:114,0,171
chr1	16059810	rs372070031;rs374668341;rs542191066	G	GC	197.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.132;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.31;MQRankSum=-2.44;QD=9.89;ReadPosRankSum=-1.097;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs372070031;dbSNPBuildID=142,138,138;ANN=GC|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*2894_*2895insC|||||2485|,GC|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*2894_*2895insC|||||2485|,GC|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|5/6|c.451+58dupG||||||;p3_1000G_AA=CCCCCC|CCCCC|CCCCCC|deletion;p3_1000G_AC=1842;p3_1000G_AF=0.367812;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=10430;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.3757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16386305;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,10:20:99:235,0,258
chr1	16059921	rs9442230	G	A	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.612;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.89;MQRankSum=-1.445;QD=13.03;ReadPosRankSum=-0.172;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9442230;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|5/7|c.399C>T|p.Asp133Asp|589/1701|399/843|133/280||,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*3005G>A|||||2595|,A|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*3005G>A|||||2595|;p3_1000G_AA=G|||;p3_1000G_AC=3558;p3_1000G_AF=0.710463;p3_1000G_AFR_AF=0.4871;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=12397;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.7584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16386416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2304,1946;ESP6500_AA_GTC=625,1054,446;ESP6500_CDS_SIZES=NM_182623.2:843;ESP6500_CG=-3.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=24;ESP6500_EA_AC=6427,2065;ESP6500_EA_GTC=2434,1559,253;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182623.2:coding-synonymous;ESP6500_GL=FAM131C;ESP6500_GRCh38_POSITION=1:16059921;ESP6500_GTC=3059,2613,699;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182623.2:c.399C>T;ESP6500_HGVS_PROTEIN_VAR=NM_182623.2:p.(D133);ESP6500_MAF=24.317,45.7882,31.4786;ESP6500_TAC=8731,4011	GT:AD:DP:GQ:PL	0/1:13,15:28:99:393,0,397
chr1	16059952	rs11576236	G	C	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.524;MLEAC=1;MLEAF=0.5;MQ=54.52;MQRankSum=-0.834;QD=13.03;ReadPosRankSum=-0.403;SOR=1.202;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11576236;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|5/7|c.368C>G|p.Pro123Arg|558/1701|368/843|123/280||,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*3036G>C|||||2626|,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*3036G>C|||||2626|;p3_1000G_AA=C|||;p3_1000G_AC=4587;p3_1000G_AF=0.915935;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=9506;p3_1000G_EAS_AF=0.8185;p3_1000G_EUR_AF=0.9662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16386447;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,11:24:99:341,0,347
chr1	16060000	rs71510977	C	T	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.089;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=51.26;MQRankSum=-1.565;QD=9.88;ReadPosRankSum=0.45;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71510977;dbSNPBuildID=130;ANN=T|missense_variant|MODERATE|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|5/7|c.320G>A|p.Arg107Gln|510/1701|320/843|107/280||,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*3084C>T|||||2674|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*3084C>T|||||2674|;p3_1000G_AA=C|||;p3_1000G_AC=1988;p3_1000G_AF=0.396965;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=9232;p3_1000G_EAS_AF=0.7966;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16386495;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:216,0,244
chr1	16061990	rs7529103	T	C	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=46.09;MQRankSum=-3.44;QD=11.75;ReadPosRankSum=0.011;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58894453;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*5074T>C|||||4664|,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*5074T>C|||||4664|,C|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|4/6|c.268+109A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2398;p3_1000G_AF=0.478834;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs58894453;p3_1000G_DP=14314;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16388485;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:181,0,132
chr1	16062061	rs2863455	C	T	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.868;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.47;MQRankSum=-3.023;QD=16.67;ReadPosRankSum=-0.914;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2863455;dbSNPBuildID=101;ANN=T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*5145C>T|||||4735|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*5145C>T|||||4735|,T|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|4/6|c.268+38G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3206;p3_1000G_AF=0.640176;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=14939;p3_1000G_EAS_AF=0.7976;p3_1000G_EUR_AF=0.7346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16388556;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7618;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1262,2706;ESP6500_AA_GTC=133,996,855;ESP6500_CDS_SIZES=NM_182623.2:843;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=26;ESP6500_EA_AC=5394,2872;ESP6500_EA_GTC=1751,1892,490;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182623.2:intron;ESP6500_GL=FAM131C;ESP6500_GRCh38_POSITION=1:16062061;ESP6500_GTC=1884,2888,1345;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182623.2:c.268+38G>A;ESP6500_MAF=34.7447,31.8044,45.5942;ESP6500_TAC=6656,5578	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,11:22:99:0|1:16062061_C_T:395,0,462
chr1	16062070	rs7524413	C	G	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.1;MQRankSum=-2.698;QD=15.84;ReadPosRankSum=0.367;SOR=0.777;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7524413;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*5154C>G|||||4744|,G|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*5154C>G|||||4744|,G|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|4/6|c.268+29G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1975;p3_1000G_AF=0.394369;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=14950;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.4344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16388565;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=415,3543;ESP6500_AA_GTC=18,379,1582;ESP6500_CDS_SIZES=NM_182623.2:843;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=27;ESP6500_EA_AC=3412,4836;ESP6500_EA_GTC=666,2080,1378;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182623.2:intron;ESP6500_GL=FAM131C;ESP6500_GRCh38_POSITION=1:16062070;ESP6500_GTC=684,2459,2960;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_182623.2:c.268+29G>C;ESP6500_MAF=41.3676,10.4851,31.3534;ESP6500_TAC=3827,8379	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,9:20:99:0|1:16062061_C_T:345,0,468
chr1	16062151	rs2863456	T	C	240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.068;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.52;MQRankSum=-2.72;QD=10.94;ReadPosRankSum=0.318;SOR=0.74;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2863456;dbSNPBuildID=101;ANN=C|synonymous_variant|LOW|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|4/7|c.216A>G|p.Arg72Arg|406/1701|216/843|72/280||,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*5235T>C|||||4825|,C|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*5235T>C|||||4825|;p3_1000G_AA=C|||;p3_1000G_AC=4090;p3_1000G_AF=0.816693;p3_1000G_AFR_AF=0.7163;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=14577;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.8738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16388646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2953,1143;ESP6500_AA_GTC=1029,895,124;ESP6500_CDS_SIZES=NM_182623.2:843;ESP6500_CG=-4.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=77;ESP6500_EA_AC=7283,1077;ESP6500_EA_GTC=3117,1049,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182623.2:coding-synonymous;ESP6500_GL=FAM131C;ESP6500_GRCh38_POSITION=1:16062151;ESP6500_GTC=4146,1944,138;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_182623.2:c.216A>G;ESP6500_HGVS_PROTEIN_VAR=NM_182623.2:p.(R72);ESP6500_MAF=12.8828,27.9053,17.8227;ESP6500_TAC=10236,2220	GT:AD:DP:GQ:PL	0/1:11,11:22:99:269,0,323
chr1	16062214	rs28570004	G	T	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.247;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.03;MQRankSum=-2.697;QD=10.45;ReadPosRankSum=0.282;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28570004;dbSNPBuildID=125;ANN=T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*5298G>T|||||4888|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*5298G>T|||||4888|,T|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|3/6|c.175-22C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2332;p3_1000G_AF=0.465655;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=13637;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16388709;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1855,2295;ESP6500_AA_GTC=398,1059,618;ESP6500_CDS_SIZES=NM_182623.2:843;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=53;ESP6500_EA_AC=5014,3362;ESP6500_EA_GTC=1426,2162,600;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182623.2:intron;ESP6500_GL=FAM131C;ESP6500_GRCh38_POSITION=1:16062214;ESP6500_GTC=1824,3221,1218;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_182623.2:c.175-22C>A;ESP6500_MAF=40.1385,44.6988,45.1621;ESP6500_TAC=6869,5657	GT:AD:DP:GQ:PL	0/1:8,7:15:99:185,0,257
chr1	16062271	rs3978469	C	T	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.334;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=6.455;MLEAC=1;MLEAF=0.5;MQ=58.66;MQRankSum=-1.732;QD=3.75;ReadPosRankSum=0.812;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3978469;dbSNPBuildID=108;ANN=T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_000085.4|protein_coding||c.*5355C>T|||||4945|,T|downstream_gene_variant|MODIFIER|CLCNKB|CLCNKB|transcript|NM_001165945.2|protein_coding||c.*5355C>T|||||4945|,T|intron_variant|MODIFIER|FAM131C|FAM131C|transcript|NM_182623.2|protein_coding|3/6|c.175-79G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3760;p3_1000G_AF=0.750799;p3_1000G_AFR_AF=0.5847;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=14536;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.8499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16388766;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:62:62,0,169
chr1	16125272	rs3754334;259392	G	A	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.558;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.786;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.673;SOR=0.326;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754334;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|EPHA2|EPHA2|transcript|NM_004431.4|protein_coding|17/17|c.2874C>T|p.Ile958Ile|3051/3986|2874/2931|958/976||,A|synonymous_variant|LOW|EPHA2|EPHA2|transcript|NM_001329090.1|protein_coding|16/16|c.2712C>T|p.Ile904Ile|2983/3918|2712/2769|904/922||;p3_1000G_AA=G|||;p3_1000G_AC=1185;p3_1000G_AF=0.236621;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=12121;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.3161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16451767;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=545,3861;ESP6500_AA_AGE=244.3+/-253.7;ESP6500_AA_GTC=32,481,1690;ESP6500_CDS_SIZES=NM_004431.3:2931;ESP6500_CG=-6.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=2419,6181;ESP6500_EA_AGE=396.7+/-345.5;ESP6500_EA_GTC=344,1731,2225;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004431.3:coding-synonymous;ESP6500_GL=EPHA2;ESP6500_GRCh38_POSITION=1:16125272;ESP6500_GTC=376,2212,3915;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004431.3:c.2874C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004431.3:p.(I958);ESP6500_MAF=28.1279,12.3695,22.7895;ESP6500_TAC=2964,10042;CLINVAR_AF_ESP=0.2279;CLINVAR_AF_EXAC=0.27513;CLINVAR_AF_TGP=0.2366;CLINVAR_ALLELEID=249476;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562|MedGen:CN169374;CLINVAR_CLNDN=Age-related_cortical_cataract|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16125272G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:413;CLINVAR_GENEINFO=EPHA2:1969;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3754334	GT:AD:DP:GQ:PL	0/1:28,27:55:99:571,0,701
chr1	16129681	rs3768294	G	A	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.988;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=2.53;SOR=0.327;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768294;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_004431.4|protein_coding|15/16|c.2670-92C>T||||||,A|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_001329090.1|protein_coding|14/15|c.2508-92C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=932;p3_1000G_AF=0.186102;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=15295;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.0686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16456176;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,15:30:99:470,0,498
chr1	16132319	rs2291805	C	T	612.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.523;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=1.002;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.053;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291805;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_004431.4|protein_coding|12/16|c.2116-46G>A||||||,T|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_001329090.1|protein_coding|11/15|c.1954-46G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=638;p3_1000G_AF=0.127396;p3_1000G_AFR_AF=0.23;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=13974;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16458814;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=845,3561;ESP6500_AA_AGE=330.2+/-301.4;ESP6500_AA_GTC=74,697,1432;ESP6500_CDS_SIZES=NM_004431.3:2931;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=383,8215;ESP6500_EA_AGE=124.1+/-182.9;ESP6500_EA_GTC=11,361,3927;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004431.3:intron;ESP6500_GL=EPHA2;ESP6500_GRCh38_POSITION=1:16132319;ESP6500_GTC=85,1058,5359;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004431.3:c.2116-46G>A;ESP6500_MAF=4.4545,19.1784,9.4432;ESP6500_TAC=1228,11776	GT:AD:DP:GQ:PL	0/1:42,26:68:99:641,0,1341
chr1	16133250	rs10907223;259389	G	A	963.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.651;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=2.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-1.688;SOR=1.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10907223;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|EPHA2|EPHA2|transcript|NM_004431.4|protein_coding|11/17|c.1983C>T|p.Leu661Leu|2160/3986|1983/2931|661/976||,A|synonymous_variant|LOW|EPHA2|EPHA2|transcript|NM_001329090.1|protein_coding|10/16|c.1821C>T|p.Leu607Leu|2092/3918|1821/2769|607/922||;p3_1000G_AA=g|||;p3_1000G_AC=965;p3_1000G_AF=0.192692;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=17582;p3_1000G_EAS_AF=0.1071;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16459745;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1770,2636;ESP6500_AA_AGE=523.3+/-371.0;ESP6500_AA_GTC=363,1044,796;ESP6500_CDS_SIZES=NM_004431.3:2931;ESP6500_CG=-1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=82;ESP6500_EA_AC=328,8272;ESP6500_EA_AGE=114.0+/-174.0;ESP6500_EA_GTC=8,312,3980;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004431.3:coding-synonymous;ESP6500_GL=EPHA2;ESP6500_GRCh38_POSITION=1:16133250;ESP6500_GTC=371,1356,4776;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004431.3:c.1983C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004431.3:p.(L661);ESP6500_MAF=3.814,40.1725,16.131;ESP6500_TAC=2098,10908;CLINVAR_AF_ESP=0.1613;CLINVAR_AF_EXAC=0.09176;CLINVAR_AF_TGP=0.1927;CLINVAR_ALLELEID=249479;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562|MedGen:CN169374;CLINVAR_CLNDN=Age-related_cortical_cataract|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16133250G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:477;CLINVAR_GENEINFO=EPHA2:1969;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10907223	GT:AD:DP:GQ:PL	0/1:26,37:63:99:992,0,707
chr1	16133844	rs6669624;259388	G	A	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.789;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.03;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6669624;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_004431.4|protein_coding|9/16|c.1738+16C>T||||||,A|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_001329090.1|protein_coding|8/15|c.1576+16C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1154;p3_1000G_AF=0.230431;p3_1000G_AFR_AF=0.5772;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=14641;p3_1000G_EAS_AF=0.1151;p3_1000G_EUR_AF=0.0716;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16460339;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1719,2105;ESP6500_AA_GTC=413,893,606;ESP6500_CDS_SIZES=NM_004431.3:2931;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=362,7050;ESP6500_EA_GTC=16,330,3360;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004431.3:intron;ESP6500_GL=EPHA2;ESP6500_GRCh38_POSITION=1:16133844;ESP6500_GTC=429,1223,3966;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004431.3:c.1738+16C>T;ESP6500_MAF=4.884,44.9529,18.5208;ESP6500_TAC=2081,9155;CLINVAR_AF_ESP=0.1852;CLINVAR_AF_EXAC=0.17212;CLINVAR_AF_TGP=0.2304;CLINVAR_ALLELEID=249480;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16133844G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=EPHA2:1969;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6669624	GT:AD:DP:GQ:PL	0/1:4,7:11:93:166,0,93
chr1	16137765	rs11260742	T	C	947.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.241;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=3.466;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.409;SOR=0.345;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11260742;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_004431.4|protein_coding|5/16|c.1312+88A>G||||||,C|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_001329090.1|protein_coding|4/15|c.1150+88A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=795;p3_1000G_AF=0.158746;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=15110;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16464260;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,39:69:99:976,0,778
chr1	16138178	rs2230597;259398	G	A	1293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.08;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=2.087;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=-0.589;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230597;dbSNPBuildID=98;ANN=A|structural_interaction_variant|HIGH|EPHA2|EPHA2|interaction|3FL7:A_329-A_426:NM_004431.4|protein_coding|5/17|c.987C>T||||||,A|synonymous_variant|LOW|EPHA2|EPHA2|transcript|NM_004431.4|protein_coding|5/17|c.987C>T|p.Pro329Pro|1164/3986|987/2931|329/976||,A|synonymous_variant|LOW|EPHA2|EPHA2|transcript|NM_001329090.1|protein_coding|4/16|c.825C>T|p.Pro275Pro|1096/3918|825/2769|275/922||;p3_1000G_AA=G|||;p3_1000G_AC=1750;p3_1000G_AF=0.349441;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=18391;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.4215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16464673;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1588,2816;ESP6500_AA_GTC=299,990,913;ESP6500_CDS_SIZES=NM_004431.3:2931;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=21;ESP6500_EA_AC=3467,5131;ESP6500_EA_GTC=711,2045,1543;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004431.3:coding-synonymous;ESP6500_GL=EPHA2;ESP6500_GRCh38_POSITION=1:16138178;ESP6500_GTC=1010,3035,2456;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004431.3:c.987C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004431.3:p.(P329);ESP6500_MAF=40.3233,36.0581,38.8786;ESP6500_TAC=5055,7947;CLINVAR_AF_ESP=0.3888;CLINVAR_AF_EXAC=0.37871;CLINVAR_AF_TGP=0.3494;CLINVAR_ALLELEID=249483;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562|MedGen:CN169374;CLINVAR_CLNDN=Age-related_cortical_cataract|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16138178G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:429;CLINVAR_GENEINFO=EPHA2:1969;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2230597	GT:AD:DP:GQ:PL	0/1:24,48:72:99:1322,0,641
chr1	16138441	rs2291804;259396	C	T	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.49;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=2.182;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.431;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291804;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_004431.4|protein_coding|3/16|c.824-11G>A||||||,T|intron_variant|MODIFIER|EPHA2|EPHA2|transcript|NM_001329090.1|protein_coding|2/15|c.662-11G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=133;p3_1000G_AF=0.0265575;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=20288;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16464936;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=19,4387;ESP6500_AA_AGE=26.2+/-53.5;ESP6500_AA_GTC=0,19,2184;ESP6500_CDS_SIZES=NM_004431.3:2931;ESP6500_CG=3.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=186,8414;ESP6500_EA_AGE=82.9+/-145.4;ESP6500_EA_GTC=3,180,4117;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004431.3:intron;ESP6500_GL=EPHA2;ESP6500_GRCh38_POSITION=1:16138441;ESP6500_GTC=3,199,6301;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004431.3:c.824-11G>A;ESP6500_MAF=2.1628,0.4312,1.5762;ESP6500_TAC=205,12801;CLINVAR_AF_ESP=0.0158;CLINVAR_AF_EXAC=0.02661;CLINVAR_AF_TGP=0.0266;CLINVAR_ALLELEID=249484;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0011143,MedGen:C2880562|MedGen:CN169374;CLINVAR_CLNDN=Age-related_cortical_cataract|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16138441C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:73044;CLINVAR_GENEINFO=EPHA2:1969;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2291804	GT:AD:DP:GQ:PL	0/1:32,26:58:99:618,0,932
chr1	16198561	rs451260	G	T	150.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.739;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.948;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs451260;dbSNPBuildID=80;ANN=T|3_prime_UTR_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|16/16|c.*26C>A|||||26|;p3_1000G_AA=G|||;p3_1000G_AC=1286;p3_1000G_AF=0.256789;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=17875;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.2624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16525056;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=659,3747;ESP6500_AA_AGE=279.0+/-274.6;ESP6500_AA_GTC=55,549,1599;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=60;ESP6500_EA_AC=2205,6395;ESP6500_EA_AGE=372.5+/-336.7;ESP6500_EA_GTC=286,1633,2381;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153213.3:utr-3;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16198561;ESP6500_GTC=341,2182,3980;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.*26C>A;ESP6500_MAF=25.6395,14.9569,22.0206;ESP6500_TAC=2864,10142	GT:AD:DP:GQ:PL	0/1:14,7:21:99:179,0,424
chr1	16199054	rs221032	C	T	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.367;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.6;SOR=1.347;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221032;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|15/15|c.2251+96G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1286;p3_1000G_AF=0.256789;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=20764;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16525549;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:286,0,248
chr1	16201723	rs6676143	G	T	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.443;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.019;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.209;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6676143;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|14/15|c.2146+59C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2365;p3_1000G_AF=0.472244;p3_1000G_AFR_AF=0.3775;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=17310;p3_1000G_EAS_AF=0.7123;p3_1000G_EUR_AF=0.4742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16528218;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=597,787;ESP6500_AA_GTC=122,353,217;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=1554,1628;ESP6500_EA_GTC=389,776,426;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153213.3:intron;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16201723;ESP6500_GTC=511,1129,643;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.2146+59C>A;ESP6500_MAF=48.8372,43.1358,47.1091;ESP6500_TAC=2151,2415	GT:AD:DP:GQ:PL	0/1:16,21:37:99:519,0,428
chr1	16201738	rs221037	G	A	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.81;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.549;SOR=1.362;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221037;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|14/15|c.2146+44C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1513;p3_1000G_AF=0.302117;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=16688;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16528233;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1223,3183;ESP6500_AA_AGE=413.3+/-336.4;ESP6500_AA_GTC=166,891,1146;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=68;ESP6500_EA_AC=2200,6400;ESP6500_EA_AGE=364.4+/-333.5;ESP6500_EA_GTC=284,1632,2384;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153213.3:intron;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16201738;ESP6500_GTC=450,2523,3530;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.2146+44C>T;ESP6500_MAF=25.5814,27.7576,26.3186;ESP6500_TAC=3423,9583	GT:AD:DP:GQ:PL	0/1:19,21:40:99:474,0,482
chr1	16201974	rs58225172	GCC	G	584.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.82;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58225172;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|13/15|c.2067-115_2067-114delGG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:16201974_GCC_G:622,42,0
chr1	16201977	rs200243292	TACCCTAGGGACC	T	584.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.21;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200243292;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|13/15|c.2067-128_2067-117delGGTCCCTAGGGT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:16201974_GCC_G:622,42,0
chr1	16202328	rs71574165;rs879663954	GCCATGGGGACGGGGTGCCCA	G	455.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.637;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.48;ReadPosRankSum=-0.728;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71574165;dbSNPBuildID=149,130;ANN=G|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|13/15|c.2066+68_2066+87delTGGGCACCCCGTCCCCATGG||||||;p3_1000G_AC=1347;p3_1000G_AF=0.26897;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=17769;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16528823;p3_1000G_GRCH37_REF=GCCATGGGGACGGGGTGCCCA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,12:16:99:0|1:16202328_GCCATGGGGACGGGGTGCCCA_G:493,0,131
chr1	16202348	rs1693540	A	G	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.517;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=1.04;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71574165,rs1693540;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|13/15|c.2066+68T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=4076;p3_1000G_AF=0.813898;p3_1000G_AFR_AF=0.68;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=13946;p3_1000G_EAS_AF=0.8661;p3_1000G_EUR_AF=0.8449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16528843;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,4:16:99:1|0:16202328_GCCATGGGGACGGGGTGCCCA_G:103,0,493
chr1	16202622	rs221039	T	C	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.075;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.05;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221039;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|12/15|c.1908-48A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1352;p3_1000G_AF=0.269968;p3_1000G_AFR_AF=0.1831;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=16928;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16529117;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=843,3563;ESP6500_AA_AGE=712.0+/-408.1;ESP6500_AA_GTC=91,661,1451;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=27;ESP6500_EA_AC=2213,6387;ESP6500_EA_AGE=682.4+/-403.8;ESP6500_EA_GTC=293,1627,2380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153213.3:intron;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16202622;ESP6500_GTC=384,2288,3831;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.1908-48A>G;ESP6500_MAF=25.7326,19.133,23.4968;ESP6500_TAC=3056,9950	GT:AD:DP:GQ:PL	0/1:14,12:26:99:371,0,369
chr1	16206308	rs221050	G	A	629.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.271;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.145;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.016;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221050;dbSNPBuildID=79;ANN=A|synonymous_variant|LOW|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|7/16|c.1170C>T|p.Ser390Ser|1369/3341|1170/2409|390/802||;p3_1000G_AA=G|||;p3_1000G_AC=1346;p3_1000G_AF=0.26877;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=13256;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16532803;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=786,3618;ESP6500_AA_GTC=80,626,1496;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=-9.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=30;ESP6500_EA_AC=2186,6404;ESP6500_EA_GTC=297,1592,2406;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153213.3:coding-synonymous;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16206308;ESP6500_GTC=377,2218,3902;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.1170C>T;ESP6500_HGVS_PROTEIN_VAR=NM_153213.3:p.(S390);ESP6500_MAF=25.4482,17.8474,22.8721;ESP6500_TAC=2972,10022	GT:AD:DP:GQ:PL	0/1:22,23:45:99:658,0,578
chr1	16206353	rs221051	A	G	561.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=4.268;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.772;SOR=0.629;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221051;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|6/15|c.1138-13T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1344;p3_1000G_AF=0.268371;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=11733;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16532848;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=786,3606;ESP6500_AA_GTC=93,600,1503;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=29;ESP6500_EA_AC=2153,6413;ESP6500_EA_GTC=285,1583,2415;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153213.3:intron;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16206353;ESP6500_GTC=378,2183,3918;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.1138-13T>C;ESP6500_MAF=25.1343,17.8962,22.681;ESP6500_TAC=2939,10019	GT:AD:DP:GQ:PL	0/1:20,22:42:99:590,0,459
chr1	16206527	rs221052	C	T	419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs221052;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|6/15|c.1138-187G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3872;p3_1000G_AF=0.773163;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=7147;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.7406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16533022;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8446;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:448,39,0
chr1	16206763	rs221055	C	T	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.016;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221055;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|6/15|c.1137+185G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1384;p3_1000G_AF=0.276358;p3_1000G_AFR_AF=0.1997;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=7138;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.2654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16533258;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:142,0,105
chr1	16207507	rs221056	C	G	356.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.042;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.367;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-0.455;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221056;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|5/15|c.874+15G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1337;p3_1000G_AF=0.266973;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=14824;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16534002;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=776,3630;ESP6500_AA_AGE=310.2+/-291.5;ESP6500_AA_GTC=78,620,1505;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=43;ESP6500_EA_AC=2243,6357;ESP6500_EA_AGE=375.4+/-337.8;ESP6500_EA_GTC=300,1643,2357;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153213.3:intron;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16207507;ESP6500_GTC=378,2263,3862;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.874+15G>C;ESP6500_MAF=26.0814,17.6123,23.2124;ESP6500_TAC=3019,9987	GT:AD:DP:GQ:PL	0/1:26,15:41:99:385,0,741
chr1	16207760	rs221057	C	G	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.793;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.995;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.18;ReadPosRankSum=0.839;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221057;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|4/16|c.712G>C|p.Glu238Gln|911/3341|712/2409|238/802||;p3_1000G_AA=C|||;p3_1000G_AC=1337;p3_1000G_AF=0.266973;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=14901;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16534255;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=778,3628;ESP6500_AA_AGE=305.5+/-289.0;ESP6500_AA_GTC=79,620,1504;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=4.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=48;ESP6500_EA_AC=2240,6356;ESP6500_EA_AGE=367.8+/-334.9;ESP6500_EA_GTC=298,1644,2356;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153213.3:missense;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16207760;ESP6500_GS=29;ESP6500_GTC=377,2264,3860;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.712G>C;ESP6500_HGVS_PROTEIN_VAR=NM_153213.3:p.(E238Q);ESP6500_MAF=26.0586,17.6577,23.2118;ESP6500_PH=benign:0.041;ESP6500_TAC=3018,9984	GT:AD:DP:GQ:PL	0/1:25,7:32:99:130,0,789
chr1	16208151	rs221058	C	G	397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.4;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.12;SOR=0.79;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221058;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|3/16|c.487G>C|p.Gly163Arg|686/3341|487/2409|163/802||;p3_1000G_AA=C|||;p3_1000G_AC=1222;p3_1000G_AF=0.24401;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=16480;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16534646;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=453,3953;ESP6500_AA_AGE=209.2+/-230.0;ESP6500_AA_GTC=35,383,1785;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=59;ESP6500_EA_AC=2233,6367;ESP6500_EA_AGE=370.2+/-335.8;ESP6500_EA_GTC=295,1643,2362;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153213.3:missense;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16208151;ESP6500_GS=125;ESP6500_GTC=330,2026,4147;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.487G>C;ESP6500_HGVS_PROTEIN_VAR=NM_153213.3:p.(G163R);ESP6500_MAF=25.9651,10.2814,20.652;ESP6500_PH=benign:0.014;ESP6500_TAC=2686,10320	GT:AD:DP:GQ:PL	0/1:16,16:32:99:426,0,365
chr1	16208235	rs221059	G	A	23.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-0.454;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs221059;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|ARHGEF19|ARHGEF19|transcript|NM_153213.4|protein_coding|2/15|c.413-10C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1336;p3_1000G_AF=0.266773;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=16205;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16534730;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=773,3633;ESP6500_AA_GTC=80,613,1510;ESP6500_CDS_SIZES=NM_153213.3:2409;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=27;ESP6500_EA_AC=2244,6354;ESP6500_EA_GTC=300,1644,2355;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153213.3:intron;ESP6500_GL=ARHGEF19;ESP6500_GRCh38_POSITION=1:16208235;ESP6500_GTC=380,2257,3865;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153213.3:c.413-10C>T;ESP6500_MAF=26.0991,17.5443,23.2006;ESP6500_TAC=3017,9987	GT:AD:DP:GQ:PL	0/1:9,3:12:52:52,0,270
chr1	16232343	rs6700888	C	A	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.276;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.294;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6700888;dbSNPBuildID=116;ANN=A|sequence_feature|LOW|RSG1|RSG1|antibody-mapping:heterologous_protein_expression_evidence|NM_030907.3|protein_coding|4/4|c.528-46G>T||||||,A|intron_variant|MODIFIER|RSG1|RSG1|transcript|NM_030907.3|protein_coding|4/4|c.528-46G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1808;p3_1000G_AF=0.361022;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=16416;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16558838;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=518,3786;ESP6500_AA_GTC=45,428,1679;ESP6500_CDS_SIZES=NM_030907.3:777;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=12;ESP6500_EA_AC=3391,5163;ESP6500_EA_GTC=675,2041,1561;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030907.3:intron;ESP6500_GL=RSG1;ESP6500_GRCh38_POSITION=1:16232343;ESP6500_GTC=720,2469,3240;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_030907.3:c.528-46G>T;ESP6500_MAF=39.6423,12.0353,30.4013;ESP6500_TAC=3909,8949	GT:AD:DP:GQ:PL	0/1:9,15:24:99:332,0,271
chr1	16294688	rs1007150	C	T	398.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.58;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=-0.713;SOR=1.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1007150;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|FBXO42|FBXO42|transcript|NM_018994.2|protein_coding|4/9|c.502+95G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3151;p3_1000G_AF=0.629193;p3_1000G_AFR_AF=0.4788;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=21634;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16621183;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5225;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,14:23:99:427,0,269
chr1	16315404	rs2273311	C	T	341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.475;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-1.028;SOR=0.973;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273311;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|FBXO42|FBXO42|transcript|NM_018994.2|protein_coding|2/10|c.15G>A|p.Ser5Ser|269/6238|15/2154|5/717||;p3_1000G_AA=C|||;p3_1000G_AC=1790;p3_1000G_AF=0.357428;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=20434;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.4235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16641899;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=529,3877;ESP6500_AA_AGE=241.5+/-251.9;ESP6500_AA_GTC=35,459,1709;ESP6500_CDS_SIZES=NM_018994.1:2154;ESP6500_CG=-4.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=75;ESP6500_EA_AC=3417,5183;ESP6500_EA_AGE=503.5+/-375.9;ESP6500_EA_GTC=688,2041,1571;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018994.1:coding-synonymous;ESP6500_GL=FBXO42;ESP6500_GRCh38_POSITION=1:16315404;ESP6500_GTC=723,2500,3280;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018994.1:c.15G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018994.1:p.(S5);ESP6500_MAF=39.7326,12.0064,30.3398;ESP6500_TAC=3946,9060	GT:AD:DP:GQ:PL	0/1:17,14:31:99:370,0,431
chr1	16404087	rs17419150	C	G	711.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.05;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.134;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.431;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17419150;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|SPATA21|SPATA21|transcript|NM_198546.1|protein_coding|8/12|c.812-48G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1853;p3_1000G_AF=0.370008;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=21192;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16730582;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=598,3566;ESP6500_AA_GTC=43,512,1527;ESP6500_CDS_SIZES=NM_198546.1:1410;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=34;ESP6500_EA_AC=2949,5167;ESP6500_EA_GTC=543,1863,1652;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198546.1:intron;ESP6500_GL=SPATA21;ESP6500_GRCh38_POSITION=1:16404087;ESP6500_GTC=586,2375,3179;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_198546.1:c.812-48G>C;ESP6500_MAF=36.3356,14.3612,28.8844;ESP6500_TAC=3547,8733	GT:AD:DP:GQ:PL	0/1:23,24:47:99:740,0,618
chr1	16405015	rs525409	C	G	554.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=3.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-1.071;SOR=0.69;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs525409;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|SPATA21|SPATA21|transcript|NM_198546.1|protein_coding|8/13|c.763G>C|p.Val255Leu|1246/2015|763/1410|255/469||,G|sequence_feature|LOW|SPATA21|SPATA21|domain:EF-hand|NM_198546.1|protein_coding|8/13|c.763G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1403;p3_1000G_AF=0.280152;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19702;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.2416;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16731510;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=882,3524;ESP6500_AA_AGE=343.1+/-307.5;ESP6500_AA_GTC=93,696,1414;ESP6500_CDS_SIZES=NM_198546.1:1410;ESP6500_CG=-0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=90;ESP6500_EA_AC=2077,6523;ESP6500_EA_AGE=359.8+/-331.7;ESP6500_EA_GTC=251,1575,2474;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198546.1:missense;ESP6500_GL=SPATA21;ESP6500_GRCh38_POSITION=1:16405015;ESP6500_GS=32;ESP6500_GTC=344,2271,3888;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_198546.1:c.763G>C;ESP6500_HGVS_PROTEIN_VAR=NM_198546.1:p.(V255L);ESP6500_MAF=24.1512,20.0182,22.751;ESP6500_PH=benign:0.001;ESP6500_TAC=2959,10047	GT:AD:DP:GQ:PL	0/1:37,22:59:99:583,0,1002
chr1	16405151	rs3106498	T	C	1110.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3106498;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|SPATA21|SPATA21|transcript|NM_198546.1|protein_coding|7/12|c.674-47A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4813;p3_1000G_AF=0.961062;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17704;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16731646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3899,507;ESP6500_AA_AGE=176.6+/-205.7;ESP6500_AA_GTC=1745,409,49;ESP6500_CDS_SIZES=NM_198546.1:1410;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=43;ESP6500_EA_AC=8593,5;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4295,3,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198546.1:intron;ESP6500_GL=SPATA21;ESP6500_GRCh38_POSITION=1:16405151;ESP6500_GTC=6040,412,50;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198546.1:c.674-47A>G;ESP6500_MAF=0.0582,11.507,3.9373;ESP6500_TAC=12492,512	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:84:1|1:16405151_T_C:1139,84,0
chr1	16405152	rs526481	G	C	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.21;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.21;ReadPosRankSum=-0.505;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs526481;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SPATA21|SPATA21|transcript|NM_198546.1|protein_coding|7/12|c.674-48C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2318;p3_1000G_AF=0.462859;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=17869;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.5348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16731647;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=777,3627;ESP6500_AA_GTC=248,281,1673;ESP6500_CDS_SIZES=NM_198546.1:1410;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=41;ESP6500_EA_AC=2767,5831;ESP6500_EA_GTC=1114,539,2646;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198546.1:intron;ESP6500_GL=SPATA21;ESP6500_GRCh38_POSITION=1:16405152;ESP6500_GTC=1362,820,4319;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_198546.1:c.674-48C>G;ESP6500_MAF=32.1819,17.6431,27.2573;ESP6500_TAC=3544,9458	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,16:28:99:0|1:16405151_T_C:678,0,447
chr1	16405158	rs526489	C	T	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.055;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.21;ReadPosRankSum=-1.881;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs526489;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|SPATA21|SPATA21|transcript|NM_198546.1|protein_coding|7/12|c.674-54G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1839;p3_1000G_AF=0.367212;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=17677;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16731653;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,17:28:99:0|1:16405151_T_C:678,0,432
chr1	16405166	rs526513	T	C	607.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.68;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.71;ReadPosRankSum=-1.315;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs526513;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|SPATA21|SPATA21|transcript|NM_198546.1|protein_coding|7/12|c.674-62A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2319;p3_1000G_AF=0.463059;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=17558;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.5348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16731661;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,16:28:99:0|1:16405151_T_C:636,0,435
chr1	16410051	rs10907226	C	T	464.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.729;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.444;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-1.623;SOR=1.207;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10907226;dbSNPBuildID=120;ANN=T|splice_region_variant&intron_variant|LOW|SPATA21|SPATA21|transcript|NM_198546.1|protein_coding|5/12|c.145-8G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3108;p3_1000G_AF=0.620607;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=15554;p3_1000G_EAS_AF=0.9097;p3_1000G_EUR_AF=0.6421;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16736546;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2674,1550;ESP6500_AA_GTC=891,892,329;ESP6500_CDS_SIZES=NM_198546.1:1410;ESP6500_CG=0.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=19;ESP6500_EA_AC=5468,2892;ESP6500_EA_GTC=1872,1724,584;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198546.1:intron;ESP6500_GL=SPATA21;ESP6500_GRCh38_POSITION=1:16410051;ESP6500_GTC=2763,2616,913;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198546.1:c.145-8G>A;ESP6500_MAF=34.5933,36.6951,35.2988;ESP6500_TAC=8142,4442	GT:AD:DP:GQ:PL	0/1:13,20:33:99:493,0,385
chr1	16448165	rs117372261	G	A	720.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.883;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=3.692;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-2.593;SOR=1.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117372261;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145277.1|protein_coding|4/6|c.380+24G>A||||||,A|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145278.1|protein_coding|4/7|c.302+24G>A||||||,A|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_018090.4|protein_coding|4/7|c.380+24G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20535;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16774660;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,25:43:99:749,0,512
chr1	16450248	rs35074812;rs571389951	G	GT	109.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.802;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.1;ReadPosRankSum=-0.454;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35074812;dbSNPBuildID=142,126;ANN=GT|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145277.1|protein_coding|5/6|c.489+1056dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145278.1|protein_coding|5/7|c.411+1056dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_018090.4|protein_coding|5/7|c.489+1056dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:11,7:18:99:147,0,263
chr1	16450288	rs1393701773	G	GT	51.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=-0.366;SOR=1.022;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=GT|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145277.1|protein_coding|5/6|c.489+1099dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145278.1|protein_coding|5/7|c.411+1099dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_018090.4|protein_coding|5/7|c.489+1099dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,3:9:89:0|1:16450288_G_GT:89,0,249
chr1	16450309	rs279779	C	T	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.637;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs279779;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145277.1|protein_coding|5/6|c.489+1108C>T||||||,T|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145278.1|protein_coding|5/7|c.411+1108C>T||||||,T|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_018090.4|protein_coding|5/7|c.489+1108C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2216;p3_1000G_AF=0.442492;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=16883;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16776804;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,2:7:92:0|1:16450288_G_GT:92,0,225
chr1	16451770	rs279782	G	T	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.765;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs279782;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145277.1|protein_coding|5/6|c.490-68G>T||||||,T|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_001145278.1|protein_coding|5/7|c.412-68G>T||||||,T|intron_variant|MODIFIER|NECAP2|NECAP2|transcript|NM_018090.4|protein_coding|5/7|c.490-68G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2216;p3_1000G_AF=0.442492;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=19075;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16778265;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:123,0,190
chr1	16476395	rs696095	G	A	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.245;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=2.311;MLEAC=1;MLEAF=0.5;MQ=59.73;MQRankSum=0.879;QD=4.48;ReadPosRankSum=1.06;SOR=1.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs696095;dbSNPBuildID=86;ANN=A|splice_region_variant&intron_variant|LOW|CROCCP3|CROCCP3|transcript|NR_023386.1|pseudogene|13/14|n.2438+4C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2043;p3_1000G_AF=0.407947;p3_1000G_AFR_AF=0.1354;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=18969;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16802890;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:50,18:68:99:333,0,1299
chr1	16538957	rs4661369	A	G	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=6.455;MLEAC=1;MLEAF=0.5;MQ=47.63;MQRankSum=-0.751;QD=5.97;ReadPosRankSum=-1.18;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661369;dbSNPBuildID=111;ANN=G|5_prime_UTR_variant|MODIFIER|FAM231B|FAM231B|transcript|NM_001310155.1|protein_coding|1/1|c.-109A>G|||||109|,G|upstream_gene_variant|MODIFIER|LOC100132147|LOC100132147|transcript|NR_135764.1|pseudogene||n.-3305T>C|||||3305|	GT:AD:DP:GQ:PL	0/1:6,3:9:82:82,0,188
chr1	16539038	rs371646160	C	G	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.979;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=44.64;MQRankSum=-1.389;QD=0.68;ReadPosRankSum=-1.579;SOR=2.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371646160;dbSNPBuildID=138;ANN=G|5_prime_UTR_variant|MODIFIER|FAM231B|FAM231B|transcript|NM_001310155.1|protein_coding|1/1|c.-28C>G|||||28|,G|upstream_gene_variant|MODIFIER|LOC100132147|LOC100132147|transcript|NR_135764.1|pseudogene||n.-3386G>C|||||3386|	GT:AD:DP:GQ:PL	0/1:13,2:15:38:38,0,379
chr1	16539128	rs200437635	G	C	66.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.84;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=38.54;MQRankSum=0.564;QD=5.56;ReadPosRankSum=1.41;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200437635;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|FAM231B|FAM231B|transcript|NM_001310155.1|protein_coding|1/1|c.63G>C|p.Ser21Ser|405/1312|63/510|21/169||,C|upstream_gene_variant|MODIFIER|LOC100132147|LOC100132147|transcript|NR_135764.1|pseudogene||n.-3476C>G|||||3476|	GT:AD:DP:GQ:PL	0/1:9,3:12:95:95,0,261
chr1	16539178	rs201269061	G	C	114.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.59;MQRankSum=2.45;QD=14.35;ReadPosRankSum=0.366;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201269061;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|FAM231B|FAM231B|transcript|NM_001310155.1|protein_coding|1/1|c.113G>C|p.Ser38Thr|455/1312|113/510|38/169||,C|upstream_gene_variant|MODIFIER|LOC100132147|LOC100132147|transcript|NR_135764.1|pseudogene||n.-3526C>G|||||3526|	GT:AD:DP:GQ:PL	0/1:4,4:8:97:143,0,97
chr1	16539275	rs57681900;rs67841213;rs71574191	CT	C	651.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.19;QD=32.59;SOR=4.615;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200788146;dbSNPBuildID=130,131,129;ANN=C|frameshift_variant|HIGH|FAM231B|FAM231B|transcript|NM_001310155.1|protein_coding|1/1|c.214delT|p.Trp72fs|556/1312|214/510|72/169||INFO_REALIGN_3_PRIME,C|upstream_gene_variant|MODIFIER|LOC100132147|LOC100132147|transcript|NR_135764.1|pseudogene||n.-3624delA|||||3624|;LOF=(FAM231B|FAM231B|1|1.00)	GT:AD:DP:GQ:PL	1/1:0,20:20:60:689,60,0
chr1	16539538	rs156880	C	T	693.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.48;QD=30.16;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs147443431;dbSNPBuildID=79;ANN=T|missense_variant|MODERATE|FAM231B|FAM231B|transcript|NM_001310155.1|protein_coding|1/1|c.473C>T|p.Pro158Leu|815/1312|473/510|158/169||,T|upstream_gene_variant|MODIFIER|LOC100132147|LOC100132147|transcript|NR_135764.1|pseudogene||n.-3886G>A|||||3886|;p3_1000G_AA=.|||;p3_1000G_AC=2931;p3_1000G_AF=0.585264;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs147443431;p3_1000G_DP=19756;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16866033;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:722,69,0
chr1	16563933	rs3900708;rs71228892	T	A	815.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.26;ClippingRankSum=0;DP=263;ExcessHet=3.0103;FS=2.118;MLEAC=1;MLEAF=0.5;MQ=59.76;MQRankSum=-0.339;QD=3.1;ReadPosRankSum=0.151;SOR=0.502;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3900708;dbSNPBuildID=130,108;ANN=A|3_prime_UTR_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|29/29|c.*10A>T|||||10|;ESP6500_AA=T;ESP6500_AA_AC=247,4159;ESP6500_AA_GTC=0,247,1956;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=467;ESP6500_EA_AC=1231,7369;ESP6500_EA_GTC=0,1231,3069;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:utr-3;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16563933;ESP6500_GTC=0,1478,5025;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.*10A>T;ESP6500_MAF=14.314,5.606,11.364;ESP6500_TAC=1478,11528	GT:AD:DP:GQ:PL	0/1:214,49:263:99:844,0,6031
chr1	16564103	rs2990550	T	A	1224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.67;ClippingRankSum=0;DP=294;ExcessHet=3.0103;FS=1.799;MLEAC=1;MLEAF=0.5;MQ=58.06;MQRankSum=-0.138;QD=4.18;ReadPosRankSum=0.618;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2990550;dbSNPBuildID=101;ANN=A|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|29/29|c.3263A>T|p.Tyr1088Phe|4269/5945|3263/3423|1088/1140||	GT:AD:DP:GQ:PL	0/1:230,63:293:99:1253,0,6151
chr1	16564144	rs1043750;rs879151238	C	T	618.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.872;ClippingRankSum=0;DP=215;ExcessHet=3.0103;FS=4.562;MLEAC=1;MLEAF=0.5;MQ=57.28;MQRankSum=-11.67;QD=2.88;ReadPosRankSum=-1.549;SOR=1.128;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1043750;dbSNPBuildID=147,86;ANN=T|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|29/29|c.3222G>A|p.Leu1074Leu|4228/5945|3222/3423|1074/1140||	GT:AD:DP:GQ:PL	0/1:175,40:215:99:647,0,5824
chr1	16564149	rs2992339;rs879151238	C	T	1056.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.7;ClippingRankSum=0;DP=201;ExcessHet=3.0103;FS=2.268;MLEAC=1;MLEAF=0.5;MQ=57.34;MQRankSum=0.49;QD=5.26;ReadPosRankSum=0.118;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2992339;dbSNPBuildID=147,101;ANN=T|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|29/29|c.3217G>A|p.Val1073Ile|4223/5945|3217/3423|1073/1140||	GT:AD:DP:GQ:PL	0/1:153,48:201:99:1085,0,4996
chr1	16564176	rs2419526	T	C	2665.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.31;ClippingRankSum=0;DP=164;ExcessHet=3.0103;FS=4.492;MLEAC=1;MLEAF=0.5;MQ=57.92;MQRankSum=-6.428;QD=16.25;ReadPosRankSum=1.3;SOR=1.139;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2419526;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|29/29|c.3190A>G|p.Met1064Val|4196/5945|3190/3423|1064/1140||;p3_1000G_AA=.|||;p3_1000G_AC=2735;p3_1000G_AF=0.546126;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=81242;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.5885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16890671;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:93,71:164:99:0|1:16564176_T_C:2694,0,4976
chr1	16564177	rs2419525	G	A	2665.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.461;ClippingRankSum=0;DP=163;ExcessHet=3.0103;FS=4.48;MLEAC=1;MLEAF=0.5;MQ=58.01;MQRankSum=-6.333;QD=16.35;ReadPosRankSum=1.1;SOR=1.115;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2419525;dbSNPBuildID=110;ANN=A|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|29/29|c.3189C>T|p.Gly1063Gly|4195/5945|3189/3423|1063/1140||;p3_1000G_AA=.|||;p3_1000G_AC=2735;p3_1000G_AF=0.546126;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=79590;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.5885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16890672;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:93,70:163:99:0|1:16564176_T_C:2694,0,4976
chr1	16564657	rs368016229	A	G	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.51;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=1.339;MLEAC=1;MLEAF=0.5;MQ=41.85;MQRankSum=-1.137;QD=2.81;ReadPosRankSum=-0.606;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368016229;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|28/28|c.3179+150T>C||||||	GT:AD:DP:GQ:PL	0/1:53,11:64:99:208,0,1791
chr1	16564663	rs4112523	A	C	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.55;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.63;MQRankSum=-1.292;QD=4.53;ReadPosRankSum=1.58;SOR=0.824;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4112523;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|28/28|c.3179+144T>G||||||	GT:AD:DP:GQ:PL	0/1:51,14:65:99:323,0,1612
chr1	16564738	rs4120702	T	C	89.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.992;ClippingRankSum=0;DP=113;ExcessHet=3.0103;FS=10.622;MLEAC=1;MLEAF=0.5;MQ=43.36;MQRankSum=-1.351;QD=0.79;ReadPosRankSum=0.095;SOR=2.126;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4120702;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|28/28|c.3179+69A>G||||||	GT:AD:DP:GQ:PL	0/1:99,14:113:99:118,0,3336
chr1	16564748	rs2289553	C	G	2782.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.32;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=6.729;MLEAC=1;MLEAF=0.5;MQ=44.15;MQRankSum=-7.385;QD=24.2;ReadPosRankSum=0.33;SOR=0.907;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61771012;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|28/28|c.3179+59G>C||||||	GT:AD:DP:GQ:PL	0/1:32,83:115:99:2811,0,705
chr1	16564845	rs3962237	T	A	70.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.717;ClippingRankSum=0;DP=159;ExcessHet=3.0103;FS=3.219;MLEAC=1;MLEAF=0.5;MQ=52.87;MQRankSum=-2.189;QD=0.45;ReadPosRankSum=-1.49;SOR=1.098;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3962237;dbSNPBuildID=108;ANN=A|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|28/29|c.3141A>T|p.Arg1047Ser|4147/5945|3141/3423|1047/1140||	GT:AD:DP:GQ:PL	0/1:139,20:159:99:99,0,4353
chr1	16564870	rs2289552	G	A	676.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.937;ClippingRankSum=0;DP=144;ExcessHet=3.0103;FS=0.687;MLEAC=1;MLEAF=0.5;MQ=54;MQRankSum=-3.995;QD=4.7;ReadPosRankSum=0.385;SOR=0.621;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201912185;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|28/29|c.3116C>T|p.Thr1039Met|4122/5945|3116/3423|1039/1140||	GT:AD:DP:GQ:PL	0/1:104,40:144:99:705,0,3156
chr1	16564990	rs2289551	C	T	840.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.028;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=7.109;MLEAC=1;MLEAF=0.5;MQ=48.25;MQRankSum=-3.836;QD=17.89;ReadPosRankSum=-0.693;SOR=1.956;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289551;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|27/28|c.3068-72G>A||||||	GT:AD:DP:GQ:PL	0/1:19,28:47:99:869,0,540
chr1	16565058	rs770444899	C	T	75.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.624;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=5.193;MLEAC=1;MLEAF=0.5;MQ=44.41;MQRankSum=-0.252;QD=1.99;ReadPosRankSum=1.18;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|27/28|c.3068-140G>A||||||	GT:AD:DP:GQ:PL	0/1:31,7:38:99:104,0,1031
chr1	16565815	rs61771015	T	G	1332.96	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=26.942;MLEAC=1;MLEAF=0.5;MQ=43.34;MQRankSum=-4.102;QD=28.98;ReadPosRankSum=-1.21;SOR=3.01;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201123634;dbSNPBuildID=129;ANN=G|splice_region_variant&intron_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|26/28|c.2893-8A>C||||||	GT:AD:DP:GQ:PL	0/1:4,42:46:5:1360,0,5
chr1	16565912	rs74535844	A	G	322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.971;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=52.86;MQRankSum=1.59;QD=15.37;ReadPosRankSum=0.475;SOR=0.56;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|26/28|c.2893-105T>C||||||	GT:AD:DP:GQ:PL	0/1:8,13:21:99:351,0,179
chr1	16566538	rs3983170	G	A	3440.89	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.533;ClippingRankSum=0;DP=135;ExcessHet=3.0103;FS=1.129;MLEAC=2;MLEAF=1;MQ=46.81;MQRankSum=-1.896;QD=25.49;ReadPosRankSum=-0.024;SOR=0.455;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3983170;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|25/28|c.2840-79C>T||||||	GT:AD:DP:GQ:PL	1/1:13,122:135:2:3467,2,0
chr1	16566547	rs879006112	T	A	148.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.363;ClippingRankSum=0;DP=130;ExcessHet=3.0103;FS=8.503;MLEAC=1;MLEAF=0.5;MQ=48.27;MQRankSum=-1.209;QD=1.14;ReadPosRankSum=-0.794;SOR=1.654;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|25/28|c.2840-88A>T||||||	GT:AD:DP:GQ:PL	0/1:111,19:130:99:177,0,3433
chr1	16566576	rs3868031	T	G	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.63;MQRankSum=-1.568;QD=3.04;ReadPosRankSum=-0.075;SOR=0.632;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3868031;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|25/28|c.2840-117A>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1001;p3_1000G_AF=0.19988;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=231378;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16893071;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:102,25:127:99:414,0,2751
chr1	16567389	rs61771021	G	A	1953.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.868;ClippingRankSum=0;DP=133;ExcessHet=3.0103;FS=9.547;MLEAC=1;MLEAF=0.5;MQ=44.21;MQRankSum=-1.696;QD=14.69;ReadPosRankSum=0.334;SOR=1.533;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61771021;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|24/28|c.2667-38C>T||||||;ESP6500_AA=G;ESP6500_AA_AC=1626,2756;ESP6500_AA_GTC=19,1588,584;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=95;ESP6500_EA_AC=3175,5365;ESP6500_EA_GTC=31,3113,1126;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:intron;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16567389;ESP6500_GTC=50,4701,1710;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.2667-38C>T;ESP6500_MAF=37.178,37.1063,37.1537;ESP6500_TAC=4801,8121	GT:AD:DP:GQ:PL	0/1:58,75:133:99:1982,0,1542
chr1	16567806	rs4098002	G	T	763.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.41;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=8.705;MLEAC=1;MLEAF=0.5;MQ=55.89;MQRankSum=-0.475;QD=7.42;ReadPosRankSum=1.65;SOR=0.237;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4098002;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|24/28|c.2666+173C>A||||||	GT:AD:DP:GQ:PL	0/1:68,35:103:99:792,0,2001
chr1	16567937	rs766773085	G	C	200.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.303;ClippingRankSum=0;DP=205;ExcessHet=3.0103;FS=1.637;MLEAC=1;MLEAF=0.5;MQ=40.31;MQRankSum=-0.663;QD=0.98;ReadPosRankSum=0.387;SOR=0.877;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|24/28|c.2666+42C>G||||||	GT:AD:DP:GQ:PL	0/1:177,28:205:99:229,0,5090
chr1	16568169	rs860282	C	T	3398.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.15;QD=31.47;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs860282;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|23/28|c.2615-139G>A||||||	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3427,324,0
chr1	16569139	rs849614	T	G	7030.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=226;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.05;MQRankSum=-1.713;QD=31.11;ReadPosRankSum=-0.442;SOR=0.612;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75027498;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|23/29|c.2548A>C|p.Lys850Gln|3554/5945|2548/3423|850/1140||	GT:AD:DP:GQ:PL	1/1:1,225:226:99:7059,668,0
chr1	16574388	rs688635	T	G	269.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.18;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=35.33;MQRankSum=0.626;QD=3.91;ReadPosRankSum=-2.112;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs688635;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|21/28|c.2398+99A>C||||||	GT:AD:DP:GQ:PL	0/1:55,14:69:99:298,0,1456
chr1	16575054	rs10907244	A	G	732.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=2.446;MLEAC=1;MLEAF=0.5;MQ=55.37;MQRankSum=-8.678;QD=9.05;ReadPosRankSum=0.691;SOR=1.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10907244;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|20/28|c.2192+103T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:59,22:81:99:0|1:16575054_A_G:761,0,2508
chr1	16575059	rs11485889	C	T	772.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.788;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.07;MQRankSum=-9.048;QD=8.78;ReadPosRankSum=0.255;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11485889;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|20/28|c.2192+98G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:63,25:88:99:0|1:16575054_A_G:801,0,2524
chr1	16575132	rs3872316	C	A	575.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.005;ClippingRankSum=0;DP=144;ExcessHet=3.0103;FS=10.676;MLEAC=1;MLEAF=0.5;MQ=51.42;MQRankSum=-9.313;QD=4;ReadPosRankSum=3.61;SOR=0.955;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3872316;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|20/28|c.2192+25G>T||||||	GT:AD:DP:GQ:PL	0/1:107,37:144:99:604,0,2852
chr1	16575173	rs3901679	T	C	2736.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=137;ExcessHet=3.0103;FS=3.541;MLEAC=1;MLEAF=0.5;MQ=49.18;MQRankSum=8.23;QD=19.98;ReadPosRankSum=0.107;SOR=0.421;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3901679;dbSNPBuildID=108;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|20/29|c.2176A>G|p.Lys726Glu|3182/5945|2176/3423|726/1140||;ESP6500_AA=T;ESP6500_AA_AC=908,2082;ESP6500_AA_GTC=90,728,677;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=209;ESP6500_EA_AC=1558,3762;ESP6500_EA_GTC=250,1058,1352;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:missense;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16575173;ESP6500_GS=56;ESP6500_GTC=340,1786,2029;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.2176A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017940.3:p.(K726E);ESP6500_MAF=29.2857,30.3679,29.6751;ESP6500_PH=benign:0.043;ESP6500_TAC=2466,5844	GT:AD:DP:GQ:PL	0/1:37,100:137:99:2765,0,678
chr1	16575215	rs3901680	C	G	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.252;ClippingRankSum=0;DP=114;ExcessHet=3.0103;FS=3.036;MLEAC=1;MLEAF=0.5;MQ=46.06;MQRankSum=-6.613;QD=3.66;ReadPosRankSum=-3.373;SOR=1.06;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3901680;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|20/29|c.2134G>C|p.Asp712His|3140/5945|2134/3423|712/1140||	GT:AD:DP:GQ:PL	0/1:87,27:114:99:446,0,2571
chr1	16575219	rs4661824	G	A	3594.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.771;ClippingRankSum=0;DP=112;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.77;MQRankSum=1.47;QD=32.1;ReadPosRankSum=-0.286;SOR=1.386;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs138796798;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|20/29|c.2130C>T|p.Asn710Asn|3136/5945|2130/3423|710/1140||	GT:AD:DP:GQ:PL	1/1:2,110:112:99:3623,269,0
chr1	16576328	rs80271292	G	C	125.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.721;ClippingRankSum=0;DP=193;ExcessHet=3.0103;FS=10.213;MLEAC=1;MLEAF=0.5;MQ=33.04;MQRankSum=-3.556;QD=0.66;ReadPosRankSum=0.272;SOR=1.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80271292;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|19/29|c.2058C>G|p.Leu686Leu|3064/5945|2058/3423|686/1140||	GT:AD:DP:GQ:PL	0/1:163,28:191:99:154,0,4185
chr1	16576389	rs74630591	T	C	2135.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.43;ClippingRankSum=0;DP=165;ExcessHet=3.0103;FS=4.564;MLEAC=1;MLEAF=0.5;MQ=31.55;MQRankSum=1.59;QD=12.94;ReadPosRankSum=-2.336;SOR=1.043;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74630591;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|19/29|c.1997A>G|p.Asn666Ser|3003/5945|1997/3423|666/1140||	GT:AD:DP:GQ:PL	0/1:81,84:165:99:2164,0,1917
chr1	16576399	rs28453011	A	G	6719.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=162;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.63;QD=29.99;SOR=1.031;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61772339;dbSNPBuildID=125;ANN=G|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|19/29|c.1987T>C|p.Cys663Arg|2993/5945|1987/3423|663/1140||;p3_1000G_AA=.|||;p3_1000G_AC=3413;p3_1000G_AF=0.68151;p3_1000G_AFR_AF=0.73;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=30785;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16902894;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,162:162:99:6748,496,0
chr1	16576448	rs3896429	T	C	1461.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=153;ExcessHet=3.0103;FS=0.619;MLEAC=1;MLEAF=0.5;MQ=33.35;MQRankSum=1.17;QD=9.55;ReadPosRankSum=-1.105;SOR=0.771;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3896429;dbSNPBuildID=108;ANN=C|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|19/29|c.1938A>G|p.Arg646Arg|2944/5945|1938/3423|646/1140||	GT:AD:DP:GQ:PL	0/1:92,61:153:99:1490,0,2566
chr1	16576487	rs3896430;218748	G	T	280.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.672;ClippingRankSum=0;DP=137;ExcessHet=3.0103;FS=3.157;MLEAC=1;MLEAF=0.5;MQ=38.01;MQRankSum=1.32;QD=2.05;ReadPosRankSum=-1.252;SOR=0.363;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=T|splice_region_variant&intron_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1905-6C>A||||||;CLINVAR_ALLELEID=215629;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16576487G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NBPF1:55672;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=0;CLINVAR_RS=3896430	GT:AD:DP:GQ:PL	0/1:114,23:137:99:309,0,3391
chr1	16576493	rs201581492	C	T	127.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.845;ClippingRankSum=0;DP=133;ExcessHet=3.0103;FS=18.863;MLEAC=1;MLEAF=0.5;MQ=38.36;MQRankSum=-2.602;QD=0.96;ReadPosRankSum=2.2;SOR=2.694;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201581492;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1905-12G>A||||||	GT:AD:DP:GQ:PL	0/1:113,20:133:99:156,0,3210
chr1	16577168	rs684193	C	T	674.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.246;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=6.475;MLEAC=1;MLEAF=0.5;MQ=44.62;MQRankSum=-3.387;QD=14.36;ReadPosRankSum=-1.751;SOR=2.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs684193;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+149G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,18:47:99:0|1:16577168_C_T:703,0,1161
chr1	16577179	rs613213	C	T	867.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.639;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=3.516;MLEAC=1;MLEAF=0.5;MQ=44.79;MQRankSum=-3.812;QD=16.37;ReadPosRankSum=-1.112;SOR=1.516;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs613213;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+138G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,22:53:99:0|1:16577168_C_T:896,0,1229
chr1	16577188	rs684166	T	A	935.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.316;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=5.702;MLEAC=1;MLEAF=0.5;MQ=45.96;MQRankSum=-3.054;QD=16.42;ReadPosRankSum=-1.139;SOR=1.797;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs684166;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+129A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,26:57:99:0|1:16577168_C_T:964,0,1223
chr1	16577232	rs552473956	T	C	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.295;ClippingRankSum=0;DP=104;ExcessHet=3.0103;FS=7.394;MLEAC=1;MLEAF=0.5;MQ=51.65;MQRankSum=-4.935;QD=2.34;ReadPosRankSum=2.07;SOR=0.147;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+85A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=37035;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16903727;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:91,13:104:99:0|1:16577232_T_C:272,0,3782
chr1	16577233	rs565900158	A	C	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.657;ClippingRankSum=0;DP=104;ExcessHet=3.0103;FS=7.394;MLEAC=1;MLEAF=0.5;MQ=51.65;MQRankSum=-4.935;QD=2.34;ReadPosRankSum=2.07;SOR=0.147;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+84T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=36197;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16903728;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:91,13:104:99:0|1:16577232_T_C:272,0,3782
chr1	16577241	rs4989435	A	C	219.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.759;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=6.726;MLEAC=1;MLEAF=0.5;MQ=51.9;MQRankSum=-4.954;QD=1.98;ReadPosRankSum=1.69;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4989435;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+76T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:98,13:111:99:0|1:16577232_T_C:248,0,4118
chr1	16577242	rs1413744819	G	T	216.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.498;ClippingRankSum=0;DP=112;ExcessHet=3.0103;FS=6.799;MLEAC=1;MLEAF=0.5;MQ=51.86;MQRankSum=-4.961;QD=1.94;ReadPosRankSum=1.64;SOR=0.192;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+75C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:99,13:112:99:0|1:16577232_T_C:245,0,4160
chr1	16577252	rs3897179	T	C	183.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.331;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=7.029;MLEAC=1;MLEAF=0.5;MQ=51.2;MQRankSum=-4.786;QD=1.52;ReadPosRankSum=1.16;SOR=0.178;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3897179;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+65A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:109,12:121:99:0|1:16577232_T_C:212,0,4570
chr1	16577259	rs1259932069	C	T	81.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.24;ClippingRankSum=0;DP=126;ExcessHet=3.0103;FS=5.242;MLEAC=1;MLEAF=0.5;MQ=50.56;MQRankSum=-4.129;QD=0.65;ReadPosRankSum=1.61;SOR=0.203;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+58G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:116,10:126:99:0|1:16577232_T_C:110,0,4704
chr1	16577285	rs612736	C	T	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=135;ExcessHet=3.0103;FS=5.239;MLEAC=1;MLEAF=0.5;MQ=48.76;MQRankSum=-0.743;QD=3.78;ReadPosRankSum=0.043;SOR=1.212;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76381029;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+32G>A||||||	GT:AD:DP:GQ:PL	0/1:105,29:134:99:535,0,3106
chr1	16577303	rs1238036505	T	C	25.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.352;ClippingRankSum=0;DP=137;ExcessHet=3.0103;FS=4.602;MLEAC=1;MLEAF=0.5;MQ=47.92;MQRankSum=-3.959;QD=0.19;ReadPosRankSum=-3.033;SOR=1.178;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/28|c.1904+14A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:126,11:137:54:0|1:16577303_T_C:54,0,5259
chr1	16577387	rs672812	T	C	566.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.7;MQRankSum=-1.887;QD=6.91;ReadPosRankSum=1.61;SOR=0.651;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs672812;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/29|c.1834A>G|p.Met612Val|2840/5945|1834/3423|612/1140||;ESP6500_AA=T;ESP6500_AA_AC=60,2058;ESP6500_AA_GTC=0,60,999;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=126;ESP6500_EA_AC=237,4495;ESP6500_EA_GTC=0,237,2129;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:missense;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16577387;ESP6500_GS=21;ESP6500_GTC=0,297,3128;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.1834A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017940.3:p.(M612V);ESP6500_MAF=5.0085,2.8329,4.3358;ESP6500_PH=benign:0.0;ESP6500_TAC=297,6553	GT:AD:DP:GQ:PL	0/1:60,22:82:99:595,0,1645
chr1	16577412	rs764624934	T	C	142.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.76;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.68;MQRankSum=1.11;QD=2.6;ReadPosRankSum=-0.45;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/29|c.1809A>G|p.Glu603Glu|2815/5945|1809/3423|603/1140||	GT:AD:DP:GQ:PL	0/1:46,9:55:99:171,0,1884
chr1	16577417	rs61772344	T	A	1888.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.51;QD=27.15;SOR=6.479;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61772344;dbSNPBuildID=129;ANN=A|missense_variant&splice_region_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|18/29|c.1804A>T|p.Asn602Tyr|2810/5945|1804/3423|602/1140||	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1917,156,0
chr1	16579223	rs3738661	A	C	64.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.835;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=5.563;MLEAC=1;MLEAF=0.5;MQ=35.17;MQRankSum=1.95;QD=3.6;ReadPosRankSum=0.531;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738661;dbSNPBuildID=110;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|17/29|c.1771T>G|p.Cys591Gly|2777/5945|1771/3423|591/1140||	GT:AD:DP:GQ:PL	0/1:14,4:18:93:93,0,436
chr1	16579294	rs4127115	T	C	91.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.831;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=10.71;MLEAC=1;MLEAF=0.5;MQ=33.52;MQRankSum=0.388;QD=6.55;ReadPosRankSum=-1.488;SOR=3.239;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141419018;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|17/29|c.1700A>G|p.His567Arg|2706/5945|1700/3423|567/1140||	GT:AD:DP:GQ:PL	0/1:10,4:14:99:120,0,287
chr1	16579305	rs10907245	G	A	39.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.23;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=33.48;MQRankSum=-0.233;QD=2.65;ReadPosRankSum=-1.229;SOR=2.807;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199652869;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|17/29|c.1689C>T|p.Asn563Asn|2695/5945|1689/3423|563/1140||	GT:AD:DP:GQ:PL	0/1:12,3:15:68:68,0,474
chr1	16579347	rs595041	A	G	391.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.77;QD=32.65;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200194071;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|17/29|c.1647T>C|p.Pro549Pro|2653/5945|1647/3423|549/1140||	GT:AD:DP:GQ:PL	1/1:0,12:12:36:420,36,0
chr1	16579483	rs2021196	C	T	463.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.06;QD=27.28;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2021196;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|16/28|c.1592-81G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3338;p3_1000G_AF=0.666534;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=24333;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16905978;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:492,51,0
chr1	16580669	rs201839566	C	T	683.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.054;ClippingRankSum=0;DP=206;ExcessHet=3.0103;FS=0.815;MLEAC=1;MLEAF=0.5;MQ=54.36;MQRankSum=-6.119;QD=3.32;ReadPosRankSum=2.76;SOR=0.536;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201839566;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|16/28|c.1591+76G>A||||||	GT:AD:DP:GQ:PL	0/1:166,40:206:99:712,0,6092
chr1	16580670	rs670368	G	A	1646.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.959;ClippingRankSum=0;DP=209;ExcessHet=3.0103;FS=2.279;MLEAC=1;MLEAF=0.5;MQ=54.32;MQRankSum=-5.03;QD=7.88;ReadPosRankSum=-2.397;SOR=0.94;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74548788;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|16/28|c.1591+75C>T||||||	GT:AD:DP:GQ:PL	0/1:138,71:209:99:1675,0,4482
chr1	16580808	rs681623	C	T	245.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=494;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.31;MQRankSum=-10.71;QD=0.5;ReadPosRankSum=0.105;SOR=0.686;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201805881;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|16/29|c.1528G>A|p.Ala510Thr|2534/5945|1528/3423|510/1140||	GT:AD:DP:GQ:PL	0/1:447,47:494:99:274,0,12903
chr1	16580833	rs4661383	G	T	10597.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.029;ClippingRankSum=0;DP=519;ExcessHet=3.0103;FS=1.404;MLEAC=1;MLEAF=0.5;MQ=47.92;MQRankSum=-5.053;QD=20.42;ReadPosRankSum=0.164;SOR=0.849;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78540200;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|16/29|c.1503C>A|p.Thr501Thr|2509/5945|1503/3423|501/1140||	GT:AD:DP:GQ:PL	0/1:105,414:519:99:10626,0,1608
chr1	16581271	rs4661838	A	G	2631.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.78;ClippingRankSum=0;DP=113;ExcessHet=3.0103;FS=27.942;MLEAC=1;MLEAF=0.5;MQ=38.04;MQRankSum=-0.014;QD=23.29;ReadPosRankSum=-0.094;SOR=4.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115167116;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|15/28|c.1379+149T>C||||||	GT:AD:DP:GQ:PL	0/1:24,89:113:99:2660,0,354
chr1	16581359	rs9729861	T	A	5909.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.94;ClippingRankSum=0;DP=345;ExcessHet=3.0103;FS=2.548;MLEAC=1;MLEAF=0.5;MQ=49.41;MQRankSum=2.27;QD=17.13;ReadPosRankSum=0.099;SOR=0.849;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9729861;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|15/28|c.1379+61A>T||||||	GT:AD:DP:GQ:PL	0/1:119,226:345:99:5938,0,3004
chr1	16581376	rs9728933	C	T	6132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.123;ClippingRankSum=0;DP=374;ExcessHet=3.0103;FS=1.83;MLEAC=1;MLEAF=0.5;MQ=49.97;MQRankSum=2.45;QD=16.4;ReadPosRankSum=1.53;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9728933;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|15/28|c.1379+44G>A||||||	GT:AD:DP:GQ:PL	0/1:127,247:374:99:6161,0,2820
chr1	16581532	rs1020239	C	A	263.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.158;ClippingRankSum=0;DP=258;ExcessHet=3.0103;FS=5.524;MLEAC=1;MLEAF=0.5;MQ=55.08;MQRankSum=-11.07;QD=1.03;ReadPosRankSum=-2.336;SOR=0.377;SNP;HET;VARTYPE=SNP;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/28|c.1307-40G>T||||||	GT:AD:DP:GQ:PL	0/1:221,36:257:99:292,0,6824
chr1	16581539	rs2119897	C	G	1286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=249;ExcessHet=3.0103;FS=0.544;MLEAC=1;MLEAF=0.5;MQ=55.45;MQRankSum=-7.735;QD=5.17;ReadPosRankSum=-1.689;SOR=0.642;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2119897;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/28|c.1307-47G>C||||||	GT:AD:DP:GQ:PL	0/1:188,61:249:99:1315,0,5788
chr1	16581585	rs2119896	G	A	703.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.097;ClippingRankSum=0;DP=210;ExcessHet=3.0103;FS=7.318;MLEAC=1;MLEAF=0.5;MQ=56.07;MQRankSum=-11.66;QD=3.35;ReadPosRankSum=1.41;SOR=0.301;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2119896;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/28|c.1307-93C>T||||||	GT:AD:DP:GQ:PL	0/1:165,45:210:99:732,0,5290
chr1	16581620	rs647061	A	G	1574.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.51;ClippingRankSum=0;DP=175;ExcessHet=3.0103;FS=0.715;MLEAC=1;MLEAF=0.5;MQ=55.42;MQRankSum=5.47;QD=9;ReadPosRankSum=0.248;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs647061;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/28|c.1307-128T>C||||||	GT:AD:DP:GQ:PL	0/1:118,57:175:99:1603,0,3328
chr1	16581636	rs9728963	C	T	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.751;ClippingRankSum=0;DP=157;ExcessHet=3.0103;FS=6.987;MLEAC=1;MLEAF=0.5;MQ=54.77;MQRankSum=2.53;QD=2.71;ReadPosRankSum=0.819;SOR=1.657;SNP;HET;VARTYPE=SNP;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/28|c.1307-144G>A||||||	GT:AD:DP:GQ:PL	0/1:131,26:157:99:453,0,4282
chr1	16582494	rs3895534	C	T	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.251;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0.987;MLEAC=1;MLEAF=0.5;MQ=51.87;MQRankSum=-2.583;QD=7.52;ReadPosRankSum=2.06;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144184209;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/28|c.1306+50G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1464;p3_1000G_AF=0.292332;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs144184209;p3_1000G_DP=59778;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.2773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16908989;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:42,25:67:99:532,0,1215
chr1	16582505	rs151092163	C	A	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.052;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=4.349;MLEAC=1;MLEAF=0.5;MQ=51.33;MQRankSum=1.87;QD=4.03;ReadPosRankSum=-0.63;SOR=1.383;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs151092163;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/28|c.1306+39G>T||||||	GT:AD:DP:GQ:PL	0/1:48,14:62:99:278,0,1433
chr1	16582557	rs3897177	C	T	1990.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.81;QD=29.04;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs140548913;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/29|c.1293G>A|p.Gln431Gln|2299/5945|1293/3423|431/1140||;p3_1000G_AA=.|||;p3_1000G_AC=4133;p3_1000G_AF=0.82528;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs140548913;p3_1000G_DP=33005;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.7763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16909052;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:2019,147,0
chr1	16582605	rs4996327	G	C	170.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.45;MQRankSum=-1.37;QD=6.32;ReadPosRankSum=-0.256;SOR=0.954;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143269469;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/29|c.1245C>G|p.Leu415Leu|2251/5945|1245/3423|415/1140||	GT:AD:DP:GQ:PL	0/1:20,7:27:99:199,0,750
chr1	16582634	rs4996328	T	C	540.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.12;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=7.258;MLEAC=1;MLEAF=0.5;MQ=38.49;MQRankSum=0.793;QD=20.03;ReadPosRankSum=0.058;SOR=2.998;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199798572;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/29|c.1216A>G|p.Lys406Glu|2222/5945|1216/3423|406/1140||	GT:AD:DP:GQ:PL	0/1:12,15:27:99:569,0,347
chr1	16582639	rs201581469	G	A	53.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.77;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.37;MQRankSum=-0.106;QD=2.15;ReadPosRankSum=-0.29;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201581469;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/29|c.1211C>T|p.Pro404Leu|2217/5945|1211/3423|404/1140||	GT:AD:DP:GQ:PL	0/1:21,4:25:82:82,0,831
chr1	16582713	rs61773582	C	G	28.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.394;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=28.894;MLEAC=1;MLEAF=0.5;MQ=35.96;MQRankSum=-3.008;QD=1.51;ReadPosRankSum=-1.032;SOR=3.22;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200714079;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/29|c.1137G>C|p.Gln379His|2143/5945|1137/3423|379/1140||	GT:AD:DP:GQ:PL	0/1:15,4:19:57:57,0,557
chr1	16582725	rs201826071	T	C	241.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.13;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=17.458;MLEAC=1;MLEAF=0.5;MQ=34.97;MQRankSum=2.41;QD=11.51;ReadPosRankSum=-0.622;SOR=4.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201826071;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|14/29|c.1125A>G|p.Arg375Arg|2131/5945|1125/3423|375/1140||	GT:AD:DP:GQ:PL	0/1:13,8:21:99:270,0,371
chr1	16582811	rs3962261	T	C	399.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=28.03;QD=26.65;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200655394;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|13/28|c.1092-53A>G||||||	GT:AD:DP:GQ:PL	1/1:0,15:15:45:428,45,0
chr1	16583529	rs771650046	C	T	39.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.54;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37.79;MQRankSum=0.849;QD=0.44;ReadPosRankSum=-1.632;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|13/28|c.1091+65G>A||||||	GT:AD:DP:GQ:PL	0/1:82,9:91:68:68,0,2718
chr1	16583568	rs3872319	C	T	236.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.437;ClippingRankSum=0;DP=194;ExcessHet=3.0103;FS=3.218;MLEAC=1;MLEAF=0.5;MQ=45.72;MQRankSum=-6.309;QD=1.23;ReadPosRankSum=0.932;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3872319;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|13/28|c.1091+26G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=40234;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16910063;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:167,26:193:99:265,0,4867
chr1	16583569	rs2023254	A	G	6363.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=195;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.7;QD=32.63;SOR=2.081;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2023254;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|13/28|c.1091+25T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2452;p3_1000G_AF=0.489617;p3_1000G_AFR_AF=0.4773;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=39094;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16910064;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,195:195:99:6392,585,0
chr1	16583686	rs201327573	C	G	363.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.009;ClippingRankSum=0;DP=205;ExcessHet=3.0103;FS=5.313;MLEAC=1;MLEAF=0.5;MQ=44.51;MQRankSum=0.633;QD=1.77;ReadPosRankSum=1.01;SOR=1.285;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201327573;dbSNPBuildID=137;ANN=G|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|13/29|c.999G>C|p.Glu333Asp|2005/5945|999/3423|333/1140||	GT:AD:DP:GQ:PL	0/1:175,30:205:99:392,0,4978
chr1	16583754	rs112206996	T	C	566.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.19;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=17.256;MLEAC=1;MLEAF=0.5;MQ=35.92;MQRankSum=2.68;QD=6.16;ReadPosRankSum=-0.4;SOR=3.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112206996;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/28|c.989-58A>G||||||	GT:AD:DP:GQ:PL	0/1:71,21:92:99:595,0,2223
chr1	16583807	rs3926652	C	T	456.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.04;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=16.627;MLEAC=1;MLEAF=0.5;MQ=34.06;MQRankSum=-4.018;QD=9.32;ReadPosRankSum=0.023;SOR=0.049;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3926652;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/28|c.989-111G>A||||||	GT:AD:DP:GQ:PL	0/1:27,22:49:99:485,0,938
chr1	16585448	rs4247167	T	A	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.642;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=44.02;MQRankSum=-0.92;QD=16.61;ReadPosRankSum=0.859;SOR=0.327;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200170371;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/28|c.988+41A>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2357;p3_1000G_AF=0.470647;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200170371;p3_1000G_DP=70290;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16911943;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:377,0,303
chr1	16585451	rs4247168	G	A	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.785;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=40.71;MQRankSum=1.52;QD=8.62;ReadPosRankSum=-0.708;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200888436;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/28|c.988+38C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2357;p3_1000G_AF=0.470647;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200888436;p3_1000G_DP=67140;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16911946;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:192,0,420
chr1	16585519	rs10909417	A	C	724.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.13;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.737;MLEAC=1;MLEAF=0.5;MQ=37.58;MQRankSum=0.481;QD=25.88;ReadPosRankSum=-0.797;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143097321;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/29|c.958T>G|p.Cys320Gly|1964/5945|958/3423|320/1140||;p3_1000G_AA=.|||;p3_1000G_AC=2023;p3_1000G_AF=0.403954;p3_1000G_AFR_AF=0.3729;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs143097321;p3_1000G_DP=59018;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16912014;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,21:28:99:753,0,173
chr1	16585520	rs58689366	G	A	258.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.72;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.515;MLEAC=1;MLEAF=0.5;MQ=37.58;MQRankSum=2.04;QD=9.24;ReadPosRankSum=0.504;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58689366;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/29|c.957C>T|p.Ala319Ala|1963/5945|957/3423|319/1140||;p3_1000G_AA=.|||;p3_1000G_AC=663;p3_1000G_AF=0.132388;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=57458;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.1362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16912015;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,10:28:99:287,0,624
chr1	16585589	rs545990928	A	G	120.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.53;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=4.845;MLEAC=1;MLEAF=0.5;MQ=37.01;MQRankSum=-3.332;QD=2.2;ReadPosRankSum=1.45;SOR=1.807;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/29|c.888T>C|p.His296His|1894/5945|888/3423|296/1140||;p3_1000G_AA=.|||;p3_1000G_AC=120;p3_1000G_AF=0.0239617;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=51855;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16912084;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:48,7:55:99:0|1:16585589_A_G:149,0,1994
chr1	16585590	rs201157551	T	C	120.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.47;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=4.845;MLEAC=1;MLEAF=0.5;MQ=37.01;MQRankSum=-3.332;QD=2.2;ReadPosRankSum=1.54;SOR=1.807;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201157551;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/29|c.887A>G|p.His296Arg|1893/5945|887/3423|296/1140||;p3_1000G_AA=.|||;p3_1000G_AC=120;p3_1000G_AF=0.0239617;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=50722;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16912085;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:48,7:55:99:0|1:16585589_A_G:149,0,1994
chr1	16585601	rs141210850	G	A	117.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.918;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.391;MLEAC=1;MLEAF=0.5;MQ=37.07;MQRankSum=-3.394;QD=2.1;ReadPosRankSum=1.9;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141210850;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/29|c.876C>T|p.Asn292Asn|1882/5945|876/3423|292/1140||;p3_1000G_AA=.|||;p3_1000G_AC=176;p3_1000G_AF=0.0351438;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=53518;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16912096;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=268,1930;ESP6500_AA_GTC=0,268,831;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=40;ESP6500_EA_AC=367,4397;ESP6500_EA_GTC=0,367,2015;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:coding-synonymous;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16585601;ESP6500_GTC=0,635,2846;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.876C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017940.3:p.(N292);ESP6500_MAF=7.7036,12.1929,9.1209;ESP6500_TAC=635,6327	GT:AD:DP:GQ:PGT:PID:PL	0/1:49,7:56:99:0|1:16585601_G_A:146,0,2036
chr1	16585604	rs146111334	G	C	117.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.678;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.391;MLEAC=1;MLEAF=0.5;MQ=37.07;MQRankSum=-3.394;QD=2.1;ReadPosRankSum=1.89;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146111334;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|12/29|c.873C>G|p.Ile291Met|1879/5945|873/3423|291/1140||;p3_1000G_AA=.|||;p3_1000G_AC=176;p3_1000G_AF=0.0351438;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=51123;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16912099;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:49,7:56:99:0|1:16585601_G_A:146,0,2036
chr1	16585835	rs4336845	C	T	2370.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.01;QD=34.43;SOR=2.904;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4336845;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|11/28|c.779-137G>A||||||	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2399,195,0
chr1	16586975	rs28414174	A	G	25.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.32;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.673;MLEAC=1;MLEAF=0.5;MQ=53.83;MQRankSum=-3.674;QD=1.03;ReadPosRankSum=-2.735;SOR=1.755;SNP;HET;VARTYPE=SNP;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|11/28|c.778+75T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=24914;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16913470;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,4:25:54:54,0,622
chr1	16587089	rs629538	A	C	249.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=9.682;MLEAC=1;MLEAF=0.5;MQ=37.96;MQRankSum=1.36;QD=3.2;ReadPosRankSum=-0.44;SOR=1.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs629538;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|11/29|c.739T>G|p.Ser247Ala|1745/5945|739/3423|247/1140||;ESP6500_AA=A;ESP6500_AA_AC=478,3906;ESP6500_AA_GTC=1,476,1715;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=336;ESP6500_EA_AC=1534,7038;ESP6500_EA_GTC=87,1360,2839;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:missense;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16587089;ESP6500_GS=99;ESP6500_GTC=88,1836,4554;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.739T>G;ESP6500_HGVS_PROTEIN_VAR=NM_017940.3:p.(S247A);ESP6500_MAF=17.8955,10.9033,15.5295;ESP6500_TAC=2012,10944	GT:AD:DP:GQ:PL	0/1:61,17:78:99:278,0,1400
chr1	16587117	rs629889	G	A	741.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.44;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=4.642;MLEAC=1;MLEAF=0.5;MQ=35.84;MQRankSum=0.98;QD=10.16;ReadPosRankSum=0.828;SOR=1.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs629889;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|11/29|c.711C>T|p.Asn237Asn|1717/5945|711/3423|237/1140||;ESP6500_AA=A;ESP6500_AA_AC=250,4146;ESP6500_AA_GTC=3,244,1951;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=449;ESP6500_EA_AC=1503,7085;ESP6500_EA_GTC=109,1285,2900;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:coding-synonymous;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16587117;ESP6500_GTC=112,1529,4851;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.711C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017940.3:p.(N237);ESP6500_MAF=17.5012,5.687,13.5012;ESP6500_TAC=1753,11231	GT:AD:DP:GQ:PL	0/1:40,33:73:99:770,0,787
chr1	16587138	rs75826632	G	T	499.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.412;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.81;MQRankSum=-1.375;QD=10;ReadPosRankSum=0.534;SOR=0.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75826632;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|11/29|c.690C>A|p.Thr230Thr|1696/5945|690/3423|230/1140||	GT:AD:DP:GQ:PL	0/1:25,25:50:99:528,0,665
chr1	16587182	rs71263230	T	C	700.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.36;QD=30.47;SOR=6.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200743207;dbSNPBuildID=130;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|11/29|c.646A>G|p.Ser216Gly|1652/5945|646/3423|216/1140||;p3_1000G_AA=.|||;p3_1000G_AC=1231;p3_1000G_AF=0.245807;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=22215;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.1849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16913677;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:729,69,0
chr1	16587644	rs3098812	C	A	1559.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.224;ClippingRankSum=0;DP=126;ExcessHet=3.0103;FS=13.144;MLEAC=1;MLEAF=0.5;MQ=46.85;MQRankSum=9.95;QD=12.38;ReadPosRankSum=-0.653;SOR=1.647;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3098812;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|10/28|c.566+81G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1235;p3_1000G_AF=0.246605;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=49263;p3_1000G_EAS_AF=0.4673;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16914139;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1588,0,1686
chr1	16587664	rs201015090	T	A	43.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.05;ClippingRankSum=0;DP=137;ExcessHet=3.0103;FS=17.931;MLEAC=1;MLEAF=0.5;MQ=48.2;MQRankSum=-4.479;QD=0.32;ReadPosRankSum=-1.099;SOR=1.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201015090;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|10/28|c.566+61A>T||||||	GT:AD:DP:GQ:PL	0/1:121,16:137:72:72,0,5007
chr1	16587665	rs2023215	G	A	1026.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.831;ClippingRankSum=0;DP=139;ExcessHet=3.0103;FS=10.022;MLEAC=1;MLEAF=0.5;MQ=48.01;MQRankSum=-7.576;QD=7.39;ReadPosRankSum=0.021;SOR=1.537;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2023215;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|10/28|c.566+60C>T||||||	GT:AD:DP:GQ:PL	0/1:92,47:139:99:1055,0,3678
chr1	16587673	rs2147033	C	G	2678.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.78;ClippingRankSum=0;DP=144;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.95;MQRankSum=-11.06;QD=18.6;ReadPosRankSum=-2.485;SOR=0.65;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2147033;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|10/28|c.566+52G>C||||||	GT:AD:DP:GQ:PL	0/1:73,71:144:99:2707,0,2012
chr1	16587701	rs61773595	T	C	316.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.921;ClippingRankSum=0;DP=176;ExcessHet=3.0103;FS=11.801;MLEAC=1;MLEAF=0.5;MQ=47.52;MQRankSum=-6.887;QD=1.8;ReadPosRankSum=-0.029;SOR=0.554;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61773595;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|10/28|c.566+24A>G||||||;ESP6500_AA=T;ESP6500_AA_AC=17,3001;ESP6500_AA_GTC=0,17,1492;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=450;ESP6500_EA_AC=125,5293;ESP6500_EA_GTC=0,125,2584;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:intron;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16587701;ESP6500_GTC=0,142,4076;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.566+24A>G;ESP6500_MAF=2.3071,0.5633,1.6833;ESP6500_TAC=142,8294	GT:AD:DP:GQ:PL	0/1:145,31:176:99:345,0,4051
chr1	16587901	rs2023276	C	T	1391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.089;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=2.429;MLEAC=1;MLEAF=0.5;MQ=49.67;MQRankSum=-7.693;QD=16.18;ReadPosRankSum=-0.628;SOR=1.073;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2023276;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|9/28|c.494-104G>A||||||	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1420,0,1111
chr1	16587920	rs4233549	A	G	872.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.82;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=6.232;MLEAC=1;MLEAF=0.5;MQ=49.17;MQRankSum=-6.851;QD=15.31;ReadPosRankSum=-0.319;SOR=1.996;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4233549;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|9/28|c.494-123T>C||||||	GT:AD:DP:GQ:PL	0/1:27,30:57:99:901,0,736
chr1	16587947	rs4661843	A	G	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.83;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.9;MQRankSum=-3.5;QD=5.54;ReadPosRankSum=-0.335;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|9/28|c.494-150T>C||||||	GT:AD:DP:GQ:PL	0/1:24,9:33:99:211,0,705
chr1	16588910	rs201355992	G	C	24.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.242;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=26.49;MQRankSum=-1.93;QD=3.1;ReadPosRankSum=-0.566;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201355992;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|9/29|c.432C>G|p.Leu144Leu|1438/5945|432/3423|144/1140||	GT:AD:DP:GQ:PL	0/1:5,3:8:53:53,0,138
chr1	16588939	rs202129231	T	C	370.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.98;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=16.021;MLEAC=1;MLEAF=0.5;MQ=24.81;MQRankSum=-2.829;QD=23.17;ReadPosRankSum=-1.628;SOR=5.28;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202129231;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|9/29|c.403A>G|p.Lys135Glu|1409/5945|403/3423|135/1140||	GT:AD:DP:GQ:PL	0/1:3,13:16:52:399,0,52
chr1	16588971	rs200264463	T	C	48.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=25.5;MQRankSum=-0.046;QD=2.32;ReadPosRankSum=0.702;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200264463;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|9/29|c.371A>G|p.Asn124Ser|1377/5945|371/3423|124/1140||	GT:AD:DP:GQ:PL	0/1:16,5:21:77:77,0,428
chr1	16589030	rs201237274	T	C	84.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.26;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=24.62;MQRankSum=-0.161;QD=2.12;ReadPosRankSum=2.61;SOR=0.565;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201237274;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|9/29|c.312A>G|p.Arg104Arg|1318/5945|312/3423|104/1140||;p3_1000G_AA=.|||;p3_1000G_AC=10;p3_1000G_AF=0.00199681;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=60193;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16915525;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,8:40:99:113,0,790
chr1	16589075	rs3981776	C	T	348.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.97;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=24.94;MQRankSum=1.84;QD=7.58;ReadPosRankSum=-0.366;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71246511;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|8/28|c.279-12G>A||||||	GT:AD:DP:GQ:PL	0/1:26,20:46:99:377,0,605
chr1	16589114	rs3897180	C	T	337.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=26.1;MQRankSum=2.55;QD=5.12;ReadPosRankSum=1.09;SOR=0.816;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201503702;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|8/28|c.279-51G>A||||||	GT:AD:DP:GQ:PL	0/1:46,20:66:99:366,0,1854
chr1	16589116	rs61773619	T	C	1043.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.15;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=26.05;MQRankSum=-2.559;QD=15.58;ReadPosRankSum=-0.756;SOR=0.578;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199620792;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|8/28|c.279-53A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=832;p3_1000G_AF=0.166134;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=42048;p3_1000G_EAS_AF=0.3641;p3_1000G_EUR_AF=0.1471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16915611;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,45:67:99:1072,0,751
chr1	16589863	rs3981774	G	C	763.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.699;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=18.679;MLEAC=1;MLEAF=0.5;MQ=43.67;MQRankSum=-0.765;QD=14.41;ReadPosRankSum=-0.637;SOR=1.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3981774;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|8/28|c.278+36C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1871;p3_1000G_AF=0.373602;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=40637;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16916358;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,28:53:99:0|1:16589863_G_C:792,0,594
chr1	16590020	rs61773622	G	A	531.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=30.514;MLEAC=1;MLEAF=0.5;MQ=40.59;MQRankSum=-1.334;QD=4.62;ReadPosRankSum=0.789;SOR=3.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61773622;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/28|c.176-19C>T||||||	GT:AD:DP:GQ:PL	0/1:88,27:115:99:560,0,2598
chr1	16590021	rs375118507	C	T	159.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.265;ClippingRankSum=0;DP=114;ExcessHet=3.0103;FS=0.991;MLEAC=1;MLEAF=0.5;MQ=40.84;MQRankSum=-3.17;QD=1.4;ReadPosRankSum=-1.852;SOR=0.532;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375118507;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/28|c.176-20G>A||||||	GT:AD:DP:GQ:PL	0/1:95,19:114:99:188,0,3071
chr1	16590074	rs1855754	A	G	2160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=7.405;MLEAC=1;MLEAF=0.5;MQ=47.54;MQRankSum=-4.438;QD=17.43;ReadPosRankSum=1.26;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1855754;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/28|c.176-73T>C||||||	GT:AD:DP:GQ:PL	0/1:42,82:124:99:2189,0,917
chr1	16590108	rs11583443	C	A	3729.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.87;QD=31.34;SOR=1.512;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11583443;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/28|c.176-107G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3868;p3_1000G_AF=0.772364;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=27711;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16916603;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3758,357,0
chr1	16591929	rs9730077	G	C	664.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3;ClippingRankSum=0;DP=151;ExcessHet=3.0103;FS=1.537;MLEAC=1;MLEAF=0.5;MQ=47.71;MQRankSum=-7.68;QD=4.4;ReadPosRankSum=-0.023;SOR=0.848;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9730077;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/29|c.93C>G|p.Asn31Lys|1099/5945|93/3423|31/1140||;ESP6500_AA=C;ESP6500_AA_AC=203,4203;ESP6500_AA_GTC=0,203,2000;ESP6500_CDS_SIZES=NM_017940.3:3369;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=456;ESP6500_EA_AC=319,8279;ESP6500_EA_GTC=0,319,3980;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017940.3:missense;ESP6500_GL=NBPF1;ESP6500_GRCh38_POSITION=1:16591929;ESP6500_GS=94;ESP6500_GTC=0,522,5980;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017940.3:c.93C>G;ESP6500_HGVS_PROTEIN_VAR=NM_017940.3:p.(N31K);ESP6500_MAF=3.7102,4.6074,4.0141;ESP6500_TAC=522,12482	GT:AD:DP:GQ:PL	0/1:116,35:151:99:693,0,3318
chr1	16591959	rs9730079	G	A	1463.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.042;ClippingRankSum=0;DP=158;ExcessHet=3.0103;FS=3.278;MLEAC=1;MLEAF=0.5;MQ=50.49;MQRankSum=-9.276;QD=9.26;ReadPosRankSum=0.477;SOR=1.009;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9730079;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/29|c.63C>T|p.Asn21Asn|1069/5945|63/3423|21/1140||	GT:AD:DP:GQ:PGT:PID:PL	0/1:117,41:158:99:0|1:16591959_G_A:1492,0,5466
chr1	16591962	rs9730080	G	C	1469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=158;ExcessHet=3.0103;FS=2.235;MLEAC=1;MLEAF=0.5;MQ=50.51;MQRankSum=-9.741;QD=9.3;ReadPosRankSum=-0.252;SOR=0.905;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9730080;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/29|c.60C>G|p.Ile20Met|1066/5945|60/3423|20/1140||	GT:AD:DP:GQ:PGT:PID:PL	0/1:114,44:158:99:0|1:16591959_G_A:1498,0,5416
chr1	16591970	rs3897296	A	G	1513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.99;ClippingRankSum=0;DP=160;ExcessHet=3.0103;FS=1.395;MLEAC=1;MLEAF=0.5;MQ=50.65;MQRankSum=-9.82;QD=9.46;ReadPosRankSum=0.083;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3897296;dbSNPBuildID=108;ANN=G|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/29|c.52T>C|p.Leu18Leu|1058/5945|52/3423|18/1140||	GT:AD:DP:GQ:PGT:PID:PL	0/1:115,45:160:99:0|1:16591959_G_A:1542,0,5393
chr1	16592007	rs3925698	A	G	2924.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.109;ClippingRankSum=0;DP=166;ExcessHet=3.0103;FS=1.332;MLEAC=1;MLEAF=0.5;MQ=49.28;MQRankSum=-7.482;QD=17.62;ReadPosRankSum=-0.804;SOR=0.694;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3925698;dbSNPBuildID=108;ANN=G|synonymous_variant|LOW|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|7/29|c.15T>C|p.Ala5Ala|1021/5945|15/3423|5/1140||;p3_1000G_AA=.|||;p3_1000G_AC=2469;p3_1000G_AF=0.493011;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=61314;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.6024;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16918502;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:50,116:166:99:2953,0,1155
chr1	16592116	rs4141869	A	C	2651.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.48;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=3.678;MLEAC=1;MLEAF=0.5;MQ=42.29;MQRankSum=-6.925;QD=21.39;ReadPosRankSum=0.796;SOR=0.416;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4141869;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|6/28|c.-36+43T>G||||||	GT:AD:DP:GQ:PL	0/1:37,87:124:99:2680,0,806
chr1	16592198	rs12134336	A	T	464.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.109;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=4.52;MLEAC=1;MLEAF=0.5;MQ=49.61;MQRankSum=-0.73;QD=5.11;ReadPosRankSum=-0.538;SOR=0.613;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12134336;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|6/29|c.-75T>A|||||177|	GT:AD:DP:GQ:PL	0/1:65,26:91:99:493,0,1826
chr1	16592393	rs3863785	C	G	465.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.95;MQRankSum=-3.06;QD=18.63;ReadPosRankSum=-0.117;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3863785;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|5/28|c.-190-80G>C||||||	GT:AD:DP:GQ:PL	0/1:8,17:25:99:494,0,230
chr1	16592400	rs3962486	C	T	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.133;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.94;MQRankSum=-1.244;QD=10.63;ReadPosRankSum=0.033;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3962486;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|NBPF1|NBPF1|transcript|NM_017940.4|protein_coding|5/28|c.-190-87G>A||||||	GT:AD:DP:GQ:PL	0/1:14,11:25:99:294,0,433
chr1	16621978	rs446948	C	T	64.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.849;ClippingRankSum=0;DP=113;ExcessHet=3.0103;FS=2.647;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=0.294;SOR=1.262;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs446948;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|5/6|n.724-1940G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1919;p3_1000G_AF=0.383187;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=74331;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.3837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16948473;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:99,14:113:93:0|1:16621978_C_T:93,0,3060
chr1	16621979	rs2781579	C	G	3805.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=1.651;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2781579;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|5/6|n.724-1941G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3737;p3_1000G_AF=0.746206;p3_1000G_AFR_AF=0.6906;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=73053;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.7256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16948474;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,114:114:99:1|1:16621978_C_T:3834,342,0
chr1	16622227	rs390951	C	T	886.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.431;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.84;SOR=0.516;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs390951;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|5/6|n.724-2189G>A||||||	GT:AD:DP:GQ:PL	0/1:48,33:81:99:915,0,1469
chr1	16623766	rs11260845	G	C	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.486;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.75;MLEAC=1;MLEAF=0.5;MQ=58.14;MQRankSum=-0.584;QD=12.25;ReadPosRankSum=1.56;SOR=0.163;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11260845;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|5/6|n.723+2009C>G||||||	GT:AD:DP:GQ:PL	0/1:20,15:35:99:457,0,639
chr1	16623975	rs12144467	C	T	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.125;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=-0.122;SOR=0.751;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12144467;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|5/6|n.723+1800G>A||||||	GT:AD:DP:GQ:PL	0/1:45,15:60:99:354,0,1353
chr1	16624143	rs12144513	C	T	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.167;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.77;MLEAC=1;MLEAF=0.5;MQ=59.68;MQRankSum=-1.65;QD=12.49;ReadPosRankSum=-0.654;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12144513;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|5/6|n.723+1632G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,10:24:99:0|1:16624143_C_T:328,0,1069
chr1	16624155	rs12141607	G	C	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.739;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.159;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12141607;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|5/6|n.723+1620C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,8:24:99:0|1:16624143_C_T:283,0,1192
chr1	16627332	rs57007114	G	GC	676.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.891;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=0.827;MLEAC=1;MLEAF=0.5;MQ=54.8;MQRankSum=-9.085;QD=6.91;ReadPosRankSum=0.744;SOR=0.536;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57007114;dbSNPBuildID=135;ANN=GC|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|2/6|n.201-44dupG||||||	GT:AD:DP:GQ:PL	0/1:68,30:98:99:714,0,2048
chr1	16627386	rs9329439	C	G	1383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.213;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=1.053;MLEAC=1;MLEAF=0.5;MQ=55.6;MQRankSum=3.27;QD=18.96;ReadPosRankSum=0.631;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9329439;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|2/6|n.201-97G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2072;p3_1000G_AF=0.413738;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=60467;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.3877;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16953881;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,51:73:99:1412,0,744
chr1	16627394	rs1628369	G	C	464.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.85;MQRankSum=-2.521;QD=6.94;ReadPosRankSum=-0.57;SOR=0.732;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1628369;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|CROCCP2|CROCCP2|transcript|NR_026752.1|pseudogene|2/6|n.201-105C>G||||||	GT:AD:DP:GQ:PL	0/1:47,20:67:99:493,0,1971
chr1	16645453	rs2209174	C	G	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.078;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.629;MLEAC=1;MLEAF=0.5;MQ=58.6;MQRankSum=-1.629;QD=9.41;ReadPosRankSum=-1.447;SOR=0.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2209174;dbSNPBuildID=96;ANN=G|upstream_gene_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene||n.-121C>G|||||121|,G|intergenic_region|MODIFIER|CROCCP2-MST1P2|CROCCP2-MST1P2|intergenic_region|CROCCP2-MST1P2|||n.16645453C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2392;p3_1000G_AF=0.477636;p3_1000G_AFR_AF=0.4894;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=66160;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.4543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16971948;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:207,0,403
chr1	16645572	rs1360574	C	T	772.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.765;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.76;MQRankSum=2.7;QD=11.53;ReadPosRankSum=-0.244;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1360574;dbSNPBuildID=88;ANN=T|upstream_gene_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene||n.-2C>T|||||2|,T|intergenic_region|MODIFIER|CROCCP2-MST1P2|CROCCP2-MST1P2|intergenic_region|CROCCP2-MST1P2|||n.16645572C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1412;p3_1000G_AF=0.281949;p3_1000G_AFR_AF=0.1778;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=63191;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16972067;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,33:67:99:801,0,1125
chr1	16645573	rs1360575	A	G	1890.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=4.395;MLEAC=1;MLEAF=0.5;MQ=49.93;MQRankSum=4.09;QD=27.81;ReadPosRankSum=0.274;SOR=1.468;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1360575;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene||n.-1A>G|||||1|,G|intergenic_region|MODIFIER|CROCCP2-MST1P2|CROCCP2-MST1P2|intergenic_region|CROCCP2-MST1P2|||n.16645573A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2270;p3_1000G_AF=0.453275;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=61744;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.4245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16972068;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,53:68:99:1919,0,191
chr1	16645639	rs4661404	C	T	68.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.596;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=2.698;MLEAC=1;MLEAF=0.5;MQ=53.69;MQRankSum=-5.721;QD=0.77;ReadPosRankSum=1.06;SOR=0.908;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661404;dbSNPBuildID=111;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|1/14|n.66C>T||||||	GT:AD:DP:GQ:PL	0/1:77,12:89:97:97,0,2320
chr1	16645694	rs9728527	C	A	594.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.298;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.02;MQRankSum=1.61;QD=7.93;ReadPosRankSum=0.153;SOR=0.674;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9728527;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|1/13|n.105+16C>A||||||	GT:AD:DP:GQ:PL	0/1:47,28:75:99:623,0,1454
chr1	16645799	rs11260861	T	C	25.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.203;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=2.46;MLEAC=1;MLEAF=0.5;MQ=57.36;MQRankSum=-1.615;QD=0.74;ReadPosRankSum=-0.028;SOR=0.13;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11260861;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|1/13|n.105+121T>C||||||	GT:AD:DP:GQ:PL	0/1:30,5:35:54:54,0,895
chr1	16646445	rs1970921	G	A	7408.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=242;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.316;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1970921;dbSNPBuildID=92;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|2/14|n.182G>A||||||	GT:AD:DP:GQ:PL	1/1:0,242:242:99:7437,726,0
chr1	16646657	rs1970920	A	G	6414.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=187;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.75;QD=34.67;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1970920;dbSNPBuildID=92;ANN=G|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|3/14|n.313A>G||||||	GT:AD:DP:GQ:PL	1/1:0,185:185:99:6443,556,0
chr1	16646689	rs55828106	G	A	5215.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-2.63;ClippingRankSum=0;DP=188;ExcessHet=3.0103;FS=12.183;MLEAC=2;MLEAF=1;MQ=55.6;MQRankSum=4.63;QD=28.04;ReadPosRankSum=1.81;SOR=0.264;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55828106;dbSNPBuildID=129;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|3/14|n.345G>A||||||	GT:AD:DP:GQ:PL	1/1:7,179:186:99:5244,304,0
chr1	16646832	rs200697339	G	A	263.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.362;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=3.574;MLEAC=1;MLEAF=0.5;MQ=35.69;MQRankSum=-1.393;QD=2.47;ReadPosRankSum=-1.163;SOR=0.357;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200697339;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|3/13|n.365+123G>A||||||	GT:AD:DP:GQ:PL	0/1:89,18:107:99:292,0,3072
chr1	16646893	rs2490833	C	T	3540.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.829;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.39;MQRankSum=0.119;QD=32.78;ReadPosRankSum=1.16;SOR=0.492;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76880030;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|3/13|n.366-87C>T||||||	GT:AD:DP:GQ:PL	1/1:1,107:108:99:3569,287,0
chr1	16646905	rs2761542	G	A	3582.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.07;QD=31.35;SOR=1.586;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2761542;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|3/13|n.366-75G>A||||||	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3611,307,0
chr1	16646924	rs4247169	G	A	518.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.468;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=1.083;MLEAC=1;MLEAF=0.5;MQ=33.56;MQRankSum=-0.125;QD=4.43;ReadPosRankSum=0.298;SOR=0.94;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202199433;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|3/13|n.366-56G>A||||||	GT:AD:DP:GQ:PL	0/1:90,27:117:99:547,0,3624
chr1	16646928	rs61499416	C	T	2596.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.971;ClippingRankSum=0;DP=125;ExcessHet=3.0103;FS=6.865;MLEAC=1;MLEAF=0.5;MQ=33.49;MQRankSum=1.32;QD=20.77;ReadPosRankSum=1.49;SOR=0.227;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77783374;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|3/13|n.366-52C>T||||||	GT:AD:DP:GQ:PL	0/1:39,86:125:99:2625,0,1233
chr1	16647111	rs76859932	G	T	2076.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.99;ClippingRankSum=0;DP=571;ExcessHet=3.0103;FS=0.637;MLEAC=1;MLEAF=0.5;MQ=49.53;MQRankSum=2.71;QD=3.64;ReadPosRankSum=0.702;SOR=0.761;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76859932;dbSNPBuildID=131;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|4/14|n.497G>T||||||	GT:AD:DP:GQ:PL	0/1:449,122:571:99:2105,0,11696
chr1	16647424	rs141898836	A	G	2968.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.05;ClippingRankSum=0;DP=253;ExcessHet=3.0103;FS=2.225;MLEAC=1;MLEAF=0.5;MQ=41.89;MQRankSum=-3.187;QD=11.73;ReadPosRankSum=0.699;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141898836;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|5/13|n.620-39A>G||||||	GT:AD:DP:GQ:PL	0/1:123,130:253:99:2997,0,2838
chr1	16647501	rs200256873	A	G	461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.79;ClippingRankSum=0;DP=168;ExcessHet=3.0103;FS=18.681;MLEAC=1;MLEAF=0.5;MQ=42.37;MQRankSum=-2.469;QD=2.75;ReadPosRankSum=-2.552;SOR=2.517;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200256873;dbSNPBuildID=137;ANN=G|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|6/14|n.658A>G||||||	GT:AD:DP:GQ:PL	0/1:139,29:168:99:490,0,3794
chr1	16647515	rs75068156	G	C	194.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.25;ClippingRankSum=0;DP=137;ExcessHet=3.0103;FS=12.346;MLEAC=1;MLEAF=0.5;MQ=42.92;MQRankSum=-1.854;QD=1.43;ReadPosRankSum=-2.255;SOR=2.267;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201140718;dbSNPBuildID=131;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|6/14|n.672G>C||||||	GT:AD:DP:GQ:PL	0/1:118,18:136:99:223,0,3453
chr1	16647526	rs76936294	G	A	2301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.765;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=12.881;MLEAC=1;MLEAF=0.5;MQ=43.24;MQRankSum=1.17;QD=18.56;ReadPosRankSum=3.47;SOR=0.157;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142740321;dbSNPBuildID=131;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|6/14|n.683G>A||||||	GT:AD:DP:GQ:PL	0/1:34,90:124:99:2330,0,756
chr1	16647654	rs151122120	C	A	704.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.288;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=46.07;MLEAC=1;MLEAF=0.5;MQ=36.47;MQRankSum=-0.85;QD=18.07;ReadPosRankSum=-0.176;SOR=1.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs151122120;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|6/13|n.738+73C>A||||||	GT:AD:DP:GQ:PL	0/1:14,25:39:99:733,0,463
chr1	16647729	rs368571421	C	G	294.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.22;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=2.351;MLEAC=1;MLEAF=0.5;MQ=36.99;MQRankSum=2.18;QD=3.88;ReadPosRankSum=0.69;SOR=1.349;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368571421;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|6/13|n.739-55C>G||||||	GT:AD:DP:GQ:PL	0/1:63,13:76:99:323,0,2380
chr1	16647748	rs372123873	G	C	548.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.877;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.24;MQRankSum=-2.821;QD=5.72;ReadPosRankSum=-0.172;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372123873;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|6/13|n.739-36G>C||||||	GT:AD:DP:GQ:PL	0/1:73,23:96:99:577,0,2811
chr1	16647761	rs2743519	G	C	4580.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.99;QD=28.3;SOR=5.82;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|6/13|n.739-23G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs560643608;p3_1000G_DP=32477;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16974256;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,114:114:99:4609,346,0
chr1	16647782	rs4661885	A	C	910.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=176;ExcessHet=3.0103;FS=3.826;MLEAC=1;MLEAF=0.5;MQ=45.02;MQRankSum=-2.067;QD=5.17;ReadPosRankSum=1.5;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201514041;dbSNPBuildID=111;ANN=C|splice_acceptor_variant&intron_variant|HIGH|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|6/13|n.739-2A>C||||||	GT:AD:DP:GQ:PL	0/1:133,43:176:99:939,0,4056
chr1	16648016	rs58679574	G	A	919.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.151;ClippingRankSum=0;DP=143;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.61;MQRankSum=2.45;QD=6.43;ReadPosRankSum=1.31;SOR=0.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58679574;dbSNPBuildID=129;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.971G>A||||||	GT:AD:DP:GQ:PL	0/1:100,43:143:99:948,0,2823
chr1	16648118	rs867987219	G	C	238.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.243;ClippingRankSum=0;DP=209;ExcessHet=3.0103;FS=8.15;MLEAC=1;MLEAF=0.5;MQ=56.76;MQRankSum=-1.44;QD=1.15;ReadPosRankSum=-1.364;SOR=1.505;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1073G>C||||||	GT:AD:DP:GQ:PL	0/1:180,28:208:99:267,0,5843
chr1	16648142	rs16854791	T	C	1432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=190;ExcessHet=3.0103;FS=20.058;MLEAC=1;MLEAF=0.5;MQ=55.5;MQRankSum=-0.937;QD=7.62;ReadPosRankSum=0.523;SOR=1.291;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16854791;dbSNPBuildID=123;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1097T>C||||||	GT:AD:DP:GQ:PL	0/1:135,53:188:99:1461,0,4214
chr1	16648146	rs1326585246	C	T	320.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.992;ClippingRankSum=0;DP=191;ExcessHet=3.0103;FS=2.507;MLEAC=1;MLEAF=0.5;MQ=55.05;MQRankSum=0.854;QD=1.7;ReadPosRankSum=-1.656;SOR=0.852;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1101C>T||||||	GT:AD:DP:GQ:PL	0/1:158,31:189:99:349,0,4972
chr1	16648167	rs28460410	C	A	510.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.242;ClippingRankSum=0;DP=175;ExcessHet=3.0103;FS=15.387;MLEAC=1;MLEAF=0.5;MQ=53.07;MQRankSum=-0.769;QD=2.97;ReadPosRankSum=-0.971;SOR=1.968;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28460410;dbSNPBuildID=125;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1122C>A||||||	GT:AD:DP:GQ:PL	0/1:140,32:172:99:539,0,5737
chr1	16648171	rs28503658	C	T	3430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.05;ClippingRankSum=0;DP=168;ExcessHet=3.0103;FS=9.579;MLEAC=1;MLEAF=0.5;MQ=53;MQRankSum=1.02;QD=20.42;ReadPosRankSum=2.88;SOR=0.271;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28503658;dbSNPBuildID=125;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1126C>T||||||	GT:AD:DP:GQ:PL	0/1:43,125:168:99:3459,0,1303
chr1	16648250	rs28526603	G	A	41.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.616;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=2.335;MLEAC=1;MLEAF=0.5;MQ=41.87;MQRankSum=-1.191;QD=0.57;ReadPosRankSum=0.983;SOR=1.251;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28526603;dbSNPBuildID=125;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1205G>A||||||	GT:AD:DP:GQ:PL	0/1:65,8:73:70:70,0,2211
chr1	16648263	rs28484638	G	A	2362.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.38;QD=28.93;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28484638;dbSNPBuildID=125;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1218G>A||||||	GT:AD:DP:GQ:PL	1/1:0,58:58:99:2391,187,0
chr1	16648285	rs28537673	C	T	30.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.632;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.62;MQRankSum=-0.944;QD=0.67;ReadPosRankSum=0.748;SOR=0.029;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28537673;dbSNPBuildID=125;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1240C>T||||||	GT:AD:DP:GQ:PL	0/1:40,6:46:59:59,0,1418
chr1	16648291	rs28622547	G	C	901.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.944;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.71;MQRankSum=-0.856;QD=19.6;ReadPosRankSum=0.098;SOR=0.5;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28622547;dbSNPBuildID=125;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1246G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1058;p3_1000G_AF=0.211262;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=34929;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.1431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16974786;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,29:46:99:930,0,514
chr1	16648373	rs28715800	G	T	598.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.13;QD=31.51;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28715800;dbSNPBuildID=125;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1328G>T||||||	GT:AD:DP:GQ:PL	1/1:0,19:19:57:627,57,0
chr1	16648406	rs28562993	A	G	1893.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.95;QD=30.52;SOR=2.409;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28562993;dbSNPBuildID=125;ANN=G|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1361A>G||||||	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1922,135,0
chr1	16648420	rs59636978	C	T	1279.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.493;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.56;MQRankSum=0.087;QD=23.27;ReadPosRankSum=-0.527;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59636978;dbSNPBuildID=129;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1375C>T||||||	GT:AD:DP:GQ:PL	0/1:11,44:55:99:1308,0,231
chr1	16648477	rs58464479	C	T	3515.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.737;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.67;MQRankSum=1.45;QD=31.39;ReadPosRankSum=0.758;SOR=0.956;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs58464479;dbSNPBuildID=129;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1432C>T||||||	GT:AD:DP:GQ:PL	1/1:1,111:112:99:3544,308,0
chr1	16648507	rs2093773	C	T	5772.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=165;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.06;QD=34.99;SOR=1.967;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2093773;dbSNPBuildID=96;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1462C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2550;p3_1000G_AF=0.509185;p3_1000G_AFR_AF=0.59;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=40675;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.4185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16975002;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,165:165:99:5801,497,0
chr1	16648550	rs55763726	G	A	261.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.107;ClippingRankSum=0;DP=235;ExcessHet=3.0103;FS=34.299;MLEAC=1;MLEAF=0.5;MQ=43.02;MQRankSum=-3.045;QD=1.14;ReadPosRankSum=-1.367;SOR=4.033;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55763726;dbSNPBuildID=129;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1505G>A||||||	GT:AD:DP:GQ:PL	0/1:200,30:230:99:290,0,5498
chr1	16648589	rs28506999	G	A	2062.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.09;ClippingRankSum=0;DP=303;ExcessHet=3.0103;FS=6.777;MLEAC=1;MLEAF=0.5;MQ=47.06;MQRankSum=1.9;QD=6.81;ReadPosRankSum=-0.343;SOR=0.391;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28506999;dbSNPBuildID=125;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1544G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=518;p3_1000G_AF=0.103435;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=52471;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.0676;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16975084;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:226,77:303:99:2091,0,6872
chr1	16648592	rs1295152916	G	T	285.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.454;ClippingRankSum=0;DP=304;ExcessHet=3.0103;FS=14.845;MLEAC=1;MLEAF=0.5;MQ=46.94;MQRankSum=-0.241;QD=0.94;ReadPosRankSum=-0.729;SOR=0.206;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/14|n.1547G>T||||||	GT:AD:DP:GQ:PL	0/1:263,41:304:99:314,0,10546
chr1	16648735	rs2761535	G	C	12196.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=380;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.7;QD=32.18;SOR=0.786;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2761535;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|7/13|n.1620-21G>C||||||	GT:AD:DP:GQ:PL	1/1:0,379:379:99:12225,1138,0
chr1	16648794	rs200220176	T	A	380.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.952;ClippingRankSum=0;DP=394;ExcessHet=3.0103;FS=6.552;MLEAC=1;MLEAF=0.5;MQ=45.21;MQRankSum=-1.308;QD=0.97;ReadPosRankSum=1.06;SOR=1.146;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200220176;dbSNPBuildID=137;ANN=A|splice_donor_variant&intron_variant|HIGH|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|8/13|n.1656+2T>A||||||	GT:AD:DP:GQ:PL	0/1:339,53:392:99:409,0,8891
chr1	16648934	rs60947741	T	C	939.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.45;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=11.936;MLEAC=1;MLEAF=0.5;MQ=35.35;MQRankSum=-3.533;QD=13.24;ReadPosRankSum=-3.396;SOR=2.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200935019;dbSNPBuildID=129;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|9/14|n.1710T>C||||||	GT:AD:DP:GQ:PL	0/1:35,36:71:99:968,0,766
chr1	16648956	rs377221418	G	A	60.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.494;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.749;MLEAC=1;MLEAF=0.5;MQ=32.64;MQRankSum=-0.261;QD=1.24;ReadPosRankSum=-2.639;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs377221418;dbSNPBuildID=138;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|9/14|n.1732G>A||||||	GT:AD:DP:GQ:PL	0/1:42,7:49:89:89,0,1173
chr1	16649000	rs2761532	T	C	849.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.1;QD=31.47;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs199672680;dbSNPBuildID=100;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|9/14|n.1776T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2809;p3_1000G_AF=0.560903;p3_1000G_AFR_AF=0.4584;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs199672680;p3_1000G_DP=29458;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16975495;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:878,81,0
chr1	16649014	rs4462129	T	G	313.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=21.532;MLEAC=1;MLEAF=0.5;MQ=30.59;MQRankSum=-1;QD=11.62;ReadPosRankSum=0.984;SOR=2.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202191400;dbSNPBuildID=123;ANN=G|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|9/14|n.1790T>G||||||	GT:AD:DP:GQ:PL	0/1:14,13:27:99:342,0,382
chr1	16649131	rs12031642	G	C	1081.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.813;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.061;MLEAC=1;MLEAF=0.5;MQ=40.37;MQRankSum=-0.801;QD=18.03;ReadPosRankSum=0.101;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12031642;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|9/13|n.1818-43G>C||||||	GT:AD:DP:GQ:PL	0/1:20,40:60:99:1110,0,483
chr1	16649229	rs149232270	GC	G	1747.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.935;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=7.431;MLEAC=1;MLEAF=0.5;MQ=42.97;MQRankSum=1.89;QD=20.09;ReadPosRankSum=-0.233;SOR=0.461;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs149232270;dbSNPBuildID=134;ANN=G|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|10/14|n.1876delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=1231;p3_1000G_AF=0.245807;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=61920;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16975724;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:30,57:87:99:1785,0,802
chr1	16649336	rs28504091	C	T	679.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=7.478;MLEAC=1;MLEAF=0.5;MQ=37.6;MQRankSum=-6.036;QD=8.09;ReadPosRankSum=0.557;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61772254;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|10/13|n.1896-43C>T||||||	GT:AD:DP:GQ:PL	0/1:51,33:84:99:708,0,1254
chr1	16649373	rs200822664	T	A	963.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.025;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=8.632;MLEAC=1;MLEAF=0.5;MQ=33.89;MQRankSum=4.97;QD=13.77;ReadPosRankSum=0.188;SOR=1.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200822664;dbSNPBuildID=137;ANN=A|splice_region_variant&intron_variant|LOW|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|10/13|n.1896-6T>A||||||	GT:AD:DP:GQ:PL	0/1:33,37:70:99:992,0,776
chr1	16649381	rs1310116827	A	G	50.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.01;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=6.127;MLEAC=1;MLEAF=0.5;MQ=34.09;MQRankSum=2.13;QD=0.75;ReadPosRankSum=-1.019;SOR=1.999;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|splice_region_variant&non_coding_transcript_exon_variant|LOW|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|11/14|n.1898A>G||||||	GT:AD:DP:GQ:PL	0/1:60,8:68:79:79,0,2046
chr1	16649417	rs113865438	CCCTGTT	C	786.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.824;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=17.228;MLEAC=1;MLEAF=0.5;MQ=32.24;MQRankSum=2.4;QD=14.84;ReadPosRankSum=0.548;SOR=2.91;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs148656339;dbSNPBuildID=132;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|11/14|n.1937_1942delTGTTCC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:31,22:53:99:824,0,1215
chr1	16649452	rs201766038	C	T	180.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.056;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=21.049;MLEAC=1;MLEAF=0.5;MQ=30.05;MQRankSum=0.41;QD=4.11;ReadPosRankSum=-0.637;SOR=4.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201766038;dbSNPBuildID=137;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|11/14|n.1969C>T||||||	GT:AD:DP:GQ:PL	0/1:33,11:44:99:209,0,977
chr1	16649499	rs2261801	T	C	1306.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.62;QD=31.87;SOR=0.741;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2261801;dbSNPBuildID=100;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|11/14|n.2016T>C||||||	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1335,123,0
chr1	16649698	rs2761529	C	T	1165.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.58;QD=29.89;SOR=2.613;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61772256;dbSNPBuildID=111;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|12/14|n.2134C>T||||||	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1194,117,0
chr1	16649850	rs1064317	T	C	412.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.53;QD=31.75;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200927593;dbSNPBuildID=86;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|13/14|n.2190T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1651;p3_1000G_AF=0.329673;p3_1000G_AFR_AF=0.4395;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200927593;p3_1000G_DP=33305;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16976345;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:441,39,0
chr1	16649941	rs879004547	G	C	47.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.397;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.831;MLEAC=1;MLEAF=0.5;MQ=34.07;MQRankSum=0.724;QD=1.26;ReadPosRankSum=-1.165;SOR=0.259;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|13/14|n.2281G>C||||||	GT:AD:DP:GQ:PL	0/1:31,7:38:76:76,0,845
chr1	16649956	rs28505091	G	A	904.56	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.395;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=5.558;MLEAC=1;MLEAF=0.5;MQ=36.46;MQRankSum=1.18;QD=22.61;ReadPosRankSum=0.794;SOR=0.09;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201492135;dbSNPBuildID=125;ANN=A|splice_region_variant&intron_variant|LOW|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|13/13|n.2289+7G>A||||||	GT:AD:DP:GQ:PL	0/1:4,36:40:7:932,0,7
chr1	16650044	rs2761527	A	G	1421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.302;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=35.293;MLEAC=1;MLEAF=0.5;MQ=41.49;MQRankSum=-5.587;QD=15.29;ReadPosRankSum=-1.357;SOR=2.899;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199931165;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|13/13|n.2290-30A>G||||||	GT:AD:DP:GQ:PL	0/1:38,55:93:99:1450,0,984
chr1	16650074	rs78288272	G	A	763.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.879;ClippingRankSum=0;DP=120;ExcessHet=3.0103;FS=5.176;MLEAC=1;MLEAF=0.5;MQ=42.05;MQRankSum=-2.028;QD=6.36;ReadPosRankSum=-1.345;SOR=1.217;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78288272;dbSNPBuildID=131;ANN=A|splice_region_variant&non_coding_transcript_exon_variant|LOW|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2290G>A||||||	GT:AD:DP:GQ:PL	0/1:82,38:120:99:792,0,2404
chr1	16650090	rs1135350	C	T	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.196;ClippingRankSum=0;DP=141;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=42.86;MQRankSum=-2.742;QD=3.57;ReadPosRankSum=1.62;SOR=1.168;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1135350;dbSNPBuildID=86;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2306C>T||||||	GT:AD:DP:GQ:PL	0/1:110,31:141:99:532,0,3391
chr1	16650146	rs1057417	C	T	829.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.773;ClippingRankSum=0;DP=211;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.43;MQRankSum=-5.173;QD=3.93;ReadPosRankSum=-0.225;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057417;dbSNPBuildID=86;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2362C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:170,41:211:99:0|1:16650146_C_T:858,0,7039
chr1	16650154	rs1057333	C	T	793.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.69;ClippingRankSum=0;DP=215;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.55;MQRankSum=-5.177;QD=3.69;ReadPosRankSum=-0.001;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057333;dbSNPBuildID=102;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2370C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:175,40:215:99:0|1:16650146_C_T:822,0,7134
chr1	16650277	rs79425189	G	T	673.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.874;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.368;MLEAC=1;MLEAF=0.5;MQ=39.5;MQRankSum=1.55;QD=12.48;ReadPosRankSum=-2.302;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79425189;dbSNPBuildID=131;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2493G>T||||||	GT:AD:DP:GQ:PL	0/1:28,26:54:99:702,0,799
chr1	16650291	rs201445230	G	C	387.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.631;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.681;MLEAC=1;MLEAF=0.5;MQ=38.05;MQRankSum=1.6;QD=9.94;ReadPosRankSum=-2.329;SOR=1.089;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201445230;dbSNPBuildID=137;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2507G>C||||||	GT:AD:DP:GQ:PL	0/1:22,17:39:99:416,0,632
chr1	16650310	rs1057421	G	A	284.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.82;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=28.99;MQRankSum=0;QD=25.89;ReadPosRankSum=1.97;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057421;dbSNPBuildID=111;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2526G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,8:11:39:0|1:16650310_G_A:313,0,39
chr1	16650312	rs11139	C	T	284.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.75;QD=28.43;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11139;dbSNPBuildID=52;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2528C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:0,7:7:39:0|1:16650310_G_A:313,0,39
chr1	16650330	rs2761525	C	A	121.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.79;QD=24.38;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2761525;dbSNPBuildID=100;ANN=A|non_coding_transcript_exon_variant|MODIFIER|MST1P2|MST1P2|transcript|NR_027504.1|pseudogene|14/14|n.2546C>A||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:150,15,0
chr1	16681036	rs28417186	C	T	489.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.66;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.425;MLEAC=1;MLEAF=0.5;MQ=33.01;MQRankSum=-2.117;QD=10;ReadPosRankSum=0.554;SOR=0.694;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150982605;dbSNPBuildID=125;ANN=T|upstream_gene_variant|MODIFIER|MIR3675|MIR3675.2|transcript|NR_037446.1.2|pseudogene||n.-219C>T|||||219|,T|intergenic_region|MODIFIER|FAM231C-MIR3675|FAM231C-MIR3675.2|intergenic_region|FAM231C-MIR3675.2|||n.16681036C>T||||||	GT:AD:DP:GQ:PL	0/1:25,24:49:99:518,0,535
chr1	16681169	rs189136990	T	C	109.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=28.67;MQRankSum=-0.717;QD=6.1;ReadPosRankSum=1.41;SOR=0.619;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189136990;dbSNPBuildID=135;ANN=C|upstream_gene_variant|MODIFIER|MIR3675|MIR3675.2|transcript|NR_037446.1.2|pseudogene||n.-86T>C|||||86|,C|intergenic_region|MODIFIER|FAM231C-MIR3675|FAM231C-MIR3675.2|intergenic_region|FAM231C-MIR3675.2|||n.16681169T>C||||||	GT:AD:DP:GQ:PL	0/1:12,6:18:99:138,0,351
chr1	16681199	rs12045076	C	G	149.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.135;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.09;MQRankSum=-2.103;QD=9.98;ReadPosRankSum=0.45;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61772153;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|MIR3675|MIR3675.2|transcript|NR_037446.1.2|pseudogene||n.-56C>G|||||56|,G|intergenic_region|MODIFIER|FAM231C-MIR3675|FAM231C-MIR3675.2|intergenic_region|FAM231C-MIR3675.2|||n.16681199C>G||||||	GT:AD:DP:GQ:PL	0/1:8,7:15:99:178,0,234
chr1	16681268	rs370766355;rs5772705	TG	T	179.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.266;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=8.796;MLEAC=1;MLEAF=0.5;MQ=40.68;MQRankSum=-0.696;QD=11.98;ReadPosRankSum=-1.255;SOR=1.739;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5772705,rs370766355;dbSNPBuildID=138,129;ANN=T|non_coding_transcript_exon_variant|MODIFIER|MIR3675|MIR3675.2|transcript|NR_037446.1.2|pseudogene|1/1|n.19delG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:7,8:15:99:217,0,183
chr1	16687255	rs1765547	G	A	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.276;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.54;ReadPosRankSum=-0.109;SOR=0.298;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1765547;dbSNPBuildID=89;ANN=A|downstream_gene_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene||n.*3963C>T|||||3963|,A|intergenic_region|MODIFIER|MIR3675-ESPNP|MIR3675.2-ESPNP|intergenic_region|MIR3675.2-ESPNP|||n.16687255G>A||||||	GT:AD:DP:GQ:PL	0/1:29,11:40:99:250,0,893
chr1	16687344	rs1765548	G	C	658.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.893;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=5.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.21;ReadPosRankSum=0.1;SOR=0.335;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1765548;dbSNPBuildID=89;ANN=C|downstream_gene_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene||n.*3874C>G|||||3874|,C|intergenic_region|MODIFIER|MIR3675-ESPNP|MIR3675.2-ESPNP|intergenic_region|MIR3675.2-ESPNP|||n.16687344G>C||||||	GT:AD:DP:GQ:PL	0/1:73,33:106:99:687,0,2121
chr1	16687421	rs9662672	G	A	1197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.738;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.555;SOR=0.738;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9662672;dbSNPBuildID=119;ANN=A|downstream_gene_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene||n.*3797C>T|||||3797|,A|intergenic_region|MODIFIER|MIR3675-ESPNP|MIR3675.2-ESPNP|intergenic_region|MIR3675.2-ESPNP|||n.16687421G>A||||||	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1226,0,1868
chr1	16687450	rs545745	A	G	596.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.275;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.58;ReadPosRankSum=-0.593;SOR=0.763;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs545745;dbSNPBuildID=83;ANN=G|downstream_gene_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene||n.*3768T>C|||||3768|,G|intergenic_region|MODIFIER|MIR3675-ESPNP|MIR3675.2-ESPNP|intergenic_region|MIR3675.2-ESPNP|||n.16687450A>G||||||	GT:AD:DP:GQ:PL	0/1:76,31:107:99:625,0,2116
chr1	16687479	rs545014	C	T	439.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.201;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=3.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.78;ReadPosRankSum=-0.23;SOR=0.408;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs545014;dbSNPBuildID=83;ANN=T|downstream_gene_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene||n.*3739G>A|||||3739|,T|intergenic_region|MODIFIER|MIR3675-ESPNP|MIR3675.2-ESPNP|intergenic_region|MIR3675.2-ESPNP|||n.16687479C>T||||||	GT:AD:DP:GQ:PL	0/1:67,25:92:99:468,0,1812
chr1	16696615	rs11260887	G	A	627.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.374;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=4.35;MLEAC=1;MLEAF=0.5;MQ=59.86;MQRankSum=-1.176;QD=7.13;ReadPosRankSum=0.496;SOR=0.585;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11260887;dbSNPBuildID=120;ANN=A|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|10/11|n.1754C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1622;p3_1000G_AF=0.323882;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=35506;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17023110;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:58,30:88:99:656,0,1670
chr1	16696648	rs559507	C	T	858.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.573;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=5.264;MLEAC=1;MLEAF=0.5;MQ=59.87;MQRankSum=-1.078;QD=8.67;ReadPosRankSum=-1.073;SOR=0.965;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs559507;dbSNPBuildID=83;ANN=T|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|10/11|n.1721G>A||||||	GT:AD:DP:GQ:PL	0/1:63,36:99:99:887,0,1779
chr1	16696687	rs614461	C	G	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.939;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.93;MQRankSum=-0.483;QD=7.73;ReadPosRankSum=0.592;SOR=0.786;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs614461;dbSNPBuildID=83;ANN=G|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|10/11|n.1682G>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2418;p3_1000G_AF=0.482827;p3_1000G_AFR_AF=0.4728;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=33646;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17023182;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:63,31:94:99:755,0,1973
chr1	16696881	rs613579	C	T	963.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.499;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=5.084;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.637;SOR=0.345;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs613579;dbSNPBuildID=83;ANN=T|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|9/11|n.1572G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1978;p3_1000G_AF=0.394968;p3_1000G_AFR_AF=0.2474;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=39011;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.4264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17023376;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:64,42:106:99:992,0,1760
chr1	16696908	rs10907267	G	A	697.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.654;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=5.637;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.629;SOR=0.319;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10907267;dbSNPBuildID=120;ANN=A|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|9/11|n.1545C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1575;p3_1000G_AF=0.314497;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=39681;p3_1000G_EAS_AF=0.4563;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17023403;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:67,34:101:99:726,0,1949
chr1	16696988	rs563062	C	T	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.027;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.045;MLEAC=1;MLEAF=0.5;MQ=59.66;MQRankSum=-1.248;QD=8.81;ReadPosRankSum=-1.173;SOR=0.295;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs563062;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|8/10|n.1529-64G>A||||||	GT:AD:DP:GQ:PL	0/1:30,18:48:99:451,0,907
chr1	16699291	rs679703	C	G	146.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.05;QD=29.38;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs679703;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|8/10|n.1528+135G>C||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:175,15,0
chr1	16699333	rs2610624	G	C	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.79;MQRankSum=1.86;QD=14.86;ReadPosRankSum=-0.712;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2610624;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|8/10|n.1528+93C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=1853;p3_1000G_AF=0.370008;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=22758;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17025828;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:72:162,0,72
chr1	16699357	rs537296	T	C	486.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.01;QD=32.45;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs537296;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|8/10|n.1528+69A>G||||||	GT:AD:DP:GQ:PL	1/1:0,15:15:45:515,45,0
chr1	16699497	rs12026928	G	A	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.883;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.41;ReadPosRankSum=-0.124;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12026928;dbSNPBuildID=120;ANN=A|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|8/11|n.1457C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,9:31:99:0|1:16699497_G_A:196,0,897
chr1	16699509	rs9661305	C	G	606.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.465;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.71;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=-0.567;SOR=0.815;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9661305;dbSNPBuildID=119;ANN=G|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|8/11|n.1445G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,23:30:99:1|0:16699497_G_A:635,0,225
chr1	16700056	rs665763	G	C	672.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.392;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=1.92;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=1.39;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs665763;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|6/10|n.1171-36C>G||||||	GT:AD:DP:GQ:PL	0/1:45,32:77:99:701,0,1136
chr1	16703830	rs601893	A	G	1372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.76;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=5.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.51;ReadPosRankSum=1.61;SOR=2.251;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs601893;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|5/10|n.898+113T>C||||||	GT:AD:DP:GQ:PL	0/1:6,39:45:61:1401,0,61
chr1	16703841	rs4661915	C	T	495.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.424;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.023;SOR=0.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661915;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|5/10|n.898+102G>A||||||	GT:AD:DP:GQ:PL	0/1:32,21:53:99:524,0,1096
chr1	16704009	rs601031	T	A	2507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.39;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.39;ReadPosRankSum=1.24;SOR=0.716;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs601031;dbSNPBuildID=83;ANN=A|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|5/11|n.832A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:59,64:123:99:0|1:16704009_T_A:2536,0,3126
chr1	16704020	rs201665864	G	A	2685.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=0.667;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.84;ReadPosRankSum=-0.003;SOR=0.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201665864;dbSNPBuildID=137;ANN=A|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|5/11|n.821C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:57,66:123:99:0|1:16704009_T_A:2714,0,3123
chr1	16704023	rs200139772	C	T	2649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.405;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=0.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=-0.352;SOR=0.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200139772;dbSNPBuildID=137;ANN=T|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|5/11|n.818G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:57,67:124:99:0|1:16704009_T_A:2678,0,3125
chr1	16704024	rs201039793	T	G	2607.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=0.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.03;ReadPosRankSum=-0.355;SOR=0.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201039793;dbSNPBuildID=137;ANN=G|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|5/11|n.817A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:57,67:124:99:0|1:16704009_T_A:2636,0,3128
chr1	16704095	rs590170	G	A	1254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=116;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=2.02;SOR=0.649;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs590170;dbSNPBuildID=83;ANN=A|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|5/11|n.746C>T||||||	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1283,0,1644
chr1	16707546	rs2743505	T	C	1001.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.089;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.65;MLEAC=1;MLEAF=0.5;MQ=59.32;MQRankSum=1.33;QD=22.77;ReadPosRankSum=1.06;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2743505;dbSNPBuildID=100;ANN=C|splice_region_variant&non_coding_transcript_exon_variant|LOW|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|3/11|n.563A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=3693;p3_1000G_AF=0.73742;p3_1000G_AFR_AF=0.6445;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=18292;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.7982;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17034041;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,37:44:97:1030,0,97
chr1	16707630	rs141324796;rs79472512	C	CAGCT	240.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.037;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.32;MQRankSum=-0.997;QD=5.73;ReadPosRankSum=0.138;SOR=0.495;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141324796,rs79472512;dbSNPBuildID=134,131;ANN=CAGCT|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|3/11|n.475_478dupAGCT||||||;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.1188;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=24180;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.3101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17034125;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:33,9:42:99:278,0,1433
chr1	16707773	rs55732718	G	A	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.85;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.829;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55732718;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|2/10|n.382-46C>T||||||	GT:AD:DP:GQ:PL	0/1:7,7:14:99:229,0,246
chr1	16707960	rs140689885;rs58726851	CGCGCGCGT	C	654.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.52;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.84;MQRankSum=-1.986;QD=5.74;ReadPosRankSum=0.68;SOR=0.788;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs140689885,rs58726851;dbSNPBuildID=134,129;ANN=C|non_coding_transcript_exon_variant|MODIFIER|ESPNP|ESPNP|transcript|NR_026567.1|pseudogene|2/11|n.305_312delACGCGCGC||||||;p3_1000G_AC=1012;p3_1000G_AF=0.202077;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=27320;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.2028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17034455;p3_1000G_GRCH37_REF=CGCGCGCGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:91,23:114:99:692,0,5193
chr1	16757073	rs10159208	G	A	35.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.819;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.61;MQRankSum=-2.149;QD=1.43;ReadPosRankSum=1.24;SOR=0.746;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10159208;dbSNPBuildID=119;ANN=A|3_prime_UTR_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|15/15|c.*159C>T|||||159|	GT:AD:DP:GQ:PL	0/1:21,4:25:64:64,0,792
chr1	16757176	rs1057420	C	G	592.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.127;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0.913;MLEAC=1;MLEAF=0.5;MQ=48.3;MQRankSum=0.359;QD=7.6;ReadPosRankSum=0.636;SOR=0.557;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057420;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|15/15|c.*56G>C|||||56|	GT:AD:DP:GQ:PL	0/1:50,28:78:99:621,0,1251
chr1	16757190	rs3197973	C	A	580.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.297;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.97;MQRankSum=0.817;QD=7.45;ReadPosRankSum=-1.172;SOR=0.744;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3197973;dbSNPBuildID=105;ANN=A|3_prime_UTR_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|15/15|c.*42G>T|||||42|	GT:AD:DP:GQ:PL	0/1:49,29:78:99:609,0,1285
chr1	16757312	rs1057346	T	C	2228.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.55;QD=34.82;SOR=0.822;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9286084;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|15/15|c.1990A>G|p.Thr664Ala|1990/4668|1990/2070|664/689||;p3_1000G_AA=.|||;p3_1000G_AC=3454;p3_1000G_AF=0.689696;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=27344;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.6789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17083807;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2257,192,0
chr1	16757377	rs61635893	G	A	104.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.406;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=2.598;MLEAC=1;MLEAF=0.5;MQ=40.18;MQRankSum=-2.291;QD=1.13;ReadPosRankSum=-1.404;SOR=0.393;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61635893;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|15/15|c.1925C>T|p.Pro642Leu|1925/4668|1925/2070|642/689||	GT:AD:DP:GQ:PL	0/1:81,12:93:99:133,0,2373
chr1	16757393	rs1071687	C	T	627.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.295;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.61;MQRankSum=-0.659;QD=5.87;ReadPosRankSum=-1.91;SOR=0.729;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75141545;dbSNPBuildID=119;ANN=T|missense_variant&splice_region_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|15/15|c.1909G>A|p.Gly637Ser|1909/4668|1909/2070|637/689||	GT:AD:DP:GQ:PL	0/1:76,31:107:99:656,0,2141
chr1	16757434	rs2761528	A	C	676.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=8.56;ClippingRankSum=0;DP=131;ExcessHet=3.0103;FS=21.217;MLEAC=1;MLEAF=0.5;MQ=39.91;MQRankSum=-6.775;QD=5.17;ReadPosRankSum=2.3;SOR=2.409;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138589297;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|14/14|c.1909-41T>G||||||	GT:AD:DP:GQ:PL	0/1:97,34:131:99:705,0,2555
chr1	16757489	rs71269410	C	T	992.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.567;ClippingRankSum=0;DP=214;ExcessHet=3.0103;FS=3.478;MLEAC=1;MLEAF=0.5;MQ=38.35;MQRankSum=2.37;QD=4.64;ReadPosRankSum=0.526;SOR=0.423;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71269410;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|14/14|c.1908+29G>A||||||	GT:AD:DP:GQ:PL	0/1:167,47:214:99:1021,0,4920
chr1	16757511	rs2446544	C	T	5484.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.112;ClippingRankSum=0;DP=268;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.35;MQRankSum=-2.723;QD=20.47;ReadPosRankSum=0.185;SOR=0.674;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2446544;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|14/14|c.1908+7G>A||||||	GT:AD:DP:GQ:PL	0/1:76,192:268:99:5513,0,1782
chr1	16757809	rs769988616	C	T	426.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.692;ClippingRankSum=0;DP=568;ExcessHet=3.0103;FS=1.841;MLEAC=1;MLEAF=0.5;MQ=56.98;MQRankSum=-19.12;QD=0.76;ReadPosRankSum=-0.707;SOR=0.913;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|stop_gained|HIGH|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|13/15|c.1713G>A|p.Trp571*|1713/4668|1713/2070|571/689||;LOF=(MST1L|MST1L|1|1.00);NMD=(MST1L|MST1L|1|1.00)	GT:AD:DP:GQ:PL	0/1:496,69:565:99:455,0,15830
chr1	16758015	rs11260921	G	A	2558.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.257;ClippingRankSum=0;DP=322;ExcessHet=3.0103;FS=5.659;MLEAC=1;MLEAF=0.5;MQ=48.3;MQRankSum=1.41;QD=7.95;ReadPosRankSum=-0.644;SOR=1.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61769731;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|12/15|c.1588C>T|p.Leu530Leu|1588/4668|1588/2070|530/689||	GT:AD:DP:GQ:PL	0/1:211,111:322:99:2587,0,6081
chr1	16758041	rs113242259	TGGAACA	T	2843.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.113;ClippingRankSum=0;DP=276;ExcessHet=3.0103;FS=22.518;MLEAC=1;MLEAF=0.5;MQ=45.13;MQRankSum=-0.316;QD=10.69;ReadPosRankSum=-0.154;SOR=1.773;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs142741624;dbSNPBuildID=132;ANN=T|disruptive_inframe_deletion|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|12/15|c.1556_1561delTGTTCC|p.Leu519_Phe520del|1561/4668|1556/2070|519/689||	GT:AD:DP:GQ:PL	0/1:184,82:266:99:2881,0,7399
chr1	16758094	rs12036749	A	T	1419.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.889;ClippingRankSum=0;DP=204;ExcessHet=3.0103;FS=30.712;MLEAC=1;MLEAF=0.5;MQ=39.96;MQRankSum=-2.147;QD=6.99;ReadPosRankSum=-1.167;SOR=2.505;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201329117;dbSNPBuildID=123;ANN=T|splice_region_variant&intron_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|11/14|c.1515-6T>A||||||	GT:AD:DP:GQ:PL	0/1:145,58:203:99:1448,0,4248
chr1	16758175	rs2761530	A	G	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.4;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=30.91;MLEAC=1;MLEAF=0.5;MQ=44.21;MQRankSum=-4.416;QD=2.21;ReadPosRankSum=-0.363;SOR=4.788;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199536872;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|11/14|c.1515-87T>C||||||	GT:AD:DP:GQ:PL	0/1:100,19:119:99:291,0,2905
chr1	16758260	rs2761531	T	C	1131.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.67;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=1.023;MLEAC=1;MLEAF=0.5;MQ=47.09;MQRankSum=-6.87;QD=17.96;ReadPosRankSum=-0.548;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140682808;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|11/14|c.1515-172A>G||||||	GT:AD:DP:GQ:PL	0/1:25,38:63:99:1160,0,605
chr1	16758320	rs11260922	G	A	1295.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.883;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0.837;MLEAC=1;MLEAF=0.5;MQ=38.92;MQRankSum=-3.703;QD=14.4;ReadPosRankSum=0.904;SOR=0.578;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11260922;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|11/14|c.1514+146C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2963;p3_1000G_AF=0.591653;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=45200;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.6272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17084815;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1324,0,1180
chr1	16758336	rs376787430	C	G	1154.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=1.814;MLEAC=1;MLEAF=0.5;MQ=38.33;MQRankSum=2.68;QD=11.55;ReadPosRankSum=-0.991;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376787430;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|11/14|c.1514+130G>C||||||	GT:AD:DP:GQ:PL	0/1:59,41:100:99:1183,0,1730
chr1	16758453	rs199741699	A	C	3470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.96;ClippingRankSum=0;DP=325;ExcessHet=3.0103;FS=2.45;MLEAC=1;MLEAF=0.5;MQ=49.7;MQRankSum=-0.864;QD=10.71;ReadPosRankSum=-0.035;SOR=0.842;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199741699;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|11/14|c.1514+13T>G||||||	GT:AD:DP:GQ:PL	0/1:173,151:324:99:3499,0,4048
chr1	16758473	rs2761533	G	C	429.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=368;ExcessHet=3.0103;FS=1.189;MLEAC=1;MLEAF=0.5;MQ=50.4;MQRankSum=0.843;QD=1.17;ReadPosRankSum=-0.214;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2761533;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|11/15|c.1507C>G|p.Arg503Gly|1507/4668|1507/2070|503/689||	GT:AD:DP:GQ:PL	0/1:317,51:368:99:458,0,8266
chr1	16758511	rs11800295	C	T	897.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.473;ClippingRankSum=0;DP=399;ExcessHet=3.0103;FS=2.805;MLEAC=1;MLEAF=0.5;MQ=50.38;MQRankSum=0.636;QD=2.25;ReadPosRankSum=0.25;SOR=0.732;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201784242;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|11/15|c.1469G>A|p.Gly490Glu|1469/4668|1469/2070|490/689||	GT:AD:DP:GQ:PL	0/1:323,76:399:99:926,0,8374
chr1	16758670	rs2490828	G	C	2554.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.55;QD=34.52;SOR=2.864;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2490828;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|10/14|c.1394-84C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4824;p3_1000G_AF=0.963259;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=35506;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17085165;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,74:74:99:1|1:16758670_G_C:2583,223,0
chr1	16758770	rs2490829	T	C	1896.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.71;QD=30.83;SOR=3.365;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2490829;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|10/14|c.1393+33A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3445;p3_1000G_AF=0.687899;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=22939;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.5557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17085265;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:16758770_T_C:1925,129,0
chr1	16758772	rs2077142	A	G	1896.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.87;QD=27.64;SOR=3.417;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2077142;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|10/14|c.1393+31T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3439;p3_1000G_AF=0.686701;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=22818;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.5547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17085267;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:16758770_T_C:1925,129,0
chr1	16758917	rs872964	C	T	1518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.111;ClippingRankSum=0;DP=262;ExcessHet=3.0103;FS=17.25;MLEAC=1;MLEAF=0.5;MQ=51.6;MQRankSum=-9.481;QD=5.8;ReadPosRankSum=0.59;SOR=1.564;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs872964;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|10/15|c.1279G>A|p.Ala427Thr|1279/4668|1279/2070|427/689||;p3_1000G_AA=.|||;p3_1000G_AC=2303;p3_1000G_AF=0.459864;p3_1000G_AFR_AF=0.4811;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=53359;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17085412;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:185,77:262:99:1547,0,7419
chr1	16758932	rs2002186	T	C	2959.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.1;ClippingRankSum=0;DP=283;ExcessHet=3.0103;FS=17.182;MLEAC=1;MLEAF=0.5;MQ=52.28;MQRankSum=-10.84;QD=10.46;ReadPosRankSum=0.444;SOR=1.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2002186;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|10/15|c.1264A>G|p.Ile422Val|1264/4668|1264/2070|422/689||	GT:AD:DP:GQ:PL	0/1:192,91:283:99:2988,0,5134
chr1	16759007	rs2329006	T	C	5167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.4;ClippingRankSum=0;DP=299;ExcessHet=3.0103;FS=8.015;MLEAC=1;MLEAF=0.5;MQ=47.69;MQRankSum=7.38;QD=17.28;ReadPosRankSum=-1.628;SOR=0.649;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2329006;dbSNPBuildID=114;ANN=C|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|10/15|c.1189A>G|p.Met397Val|1189/4668|1189/2070|397/689||	GT:AD:DP:GQ:PL	0/1:122,177:299:99:5196,0,3116
chr1	16759047	rs2261754	G	A	152.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.901;ClippingRankSum=0;DP=304;ExcessHet=3.0103;FS=8.167;MLEAC=1;MLEAF=0.5;MQ=47.06;MQRankSum=-5.435;QD=0.52;ReadPosRankSum=2.96;SOR=0.924;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2261754;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|9/14|c.1161-12C>T||||||	GT:AD:DP:GQ:PL	0/1:258,36:294:99:181,0,9316
chr1	16759069	rs3851921	A	G	4206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=312;ExcessHet=3.0103;FS=9.49;MLEAC=1;MLEAF=0.5;MQ=46.99;MQRankSum=-9.71;QD=13.48;ReadPosRankSum=-1.643;SOR=0.476;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3851921;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|9/15|c.1157T>C|p.Leu386Pro|1157/4668|1157/2070|386/689||	GT:AD:DP:GQ:PL	0/1:167,145:312:99:4235,0,4477
chr1	16759176	rs3863806	C	G	3154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.382;ClippingRankSum=0;DP=303;ExcessHet=3.0103;FS=1.978;MLEAC=1;MLEAF=0.5;MQ=49.24;MQRankSum=-11.72;QD=10.41;ReadPosRankSum=1.31;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3863806;dbSNPBuildID=108;ANN=G|splice_region_variant&intron_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|8/14|c.1058-8G>C||||||	GT:AD:DP:GQ:PL	0/1:186,117:303:99:3183,0,4626
chr1	16759182	rs3863805	G	A	490.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.039;ClippingRankSum=0;DP=295;ExcessHet=3.0103;FS=1.245;MLEAC=1;MLEAF=0.5;MQ=49;MQRankSum=-5.491;QD=1.67;ReadPosRankSum=-0.781;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3863805;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|8/14|c.1058-14C>T||||||	GT:AD:DP:GQ:PL	0/1:246,48:294:99:519,0,10733
chr1	16759217	rs3863803	C	T	621.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.408;ClippingRankSum=0;DP=266;ExcessHet=3.0103;FS=1.309;MLEAC=1;MLEAF=0.5;MQ=47.74;MQRankSum=-1.768;QD=2.34;ReadPosRankSum=1.68;SOR=0.847;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3863803;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|8/14|c.1058-49G>A||||||	GT:AD:DP:GQ:PL	0/1:219,47:266:99:650,0,6143
chr1	16759296	rs2297532	G	A	341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.54;ClippingRankSum=0;DP=157;ExcessHet=3.0103;FS=23.634;MLEAC=1;MLEAF=0.5;MQ=49.77;MQRankSum=-5.216;QD=2.18;ReadPosRankSum=-0.965;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297532;dbSNPBuildID=110;ANN=A|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|8/15|c.1030C>T|p.Arg344Cys|1030/4668|1030/2070|344/689||	GT:AD:DP:GQ:PL	0/1:130,27:157:99:370,0,4090
chr1	16759300	rs1057379	G	T	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.034;ClippingRankSum=0;DP=161;ExcessHet=3.0103;FS=4.997;MLEAC=1;MLEAF=0.5;MQ=50.11;MQRankSum=-0.192;QD=0.1;ReadPosRankSum=1.58;SOR=1.312;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057379;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|8/15|c.1026C>A|p.Ile342Ile|1026/4668|1026/2070|342/689||	GT:AD:DP:GQ:PL	0/1:143,18:161:45:45,0,4764
chr1	16759339	rs2005622	G	T	3633.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.4;QD=30.54;SOR=0.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2005622;dbSNPBuildID=92;ANN=T|synonymous_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|8/15|c.987C>A|p.Thr329Thr|987/4668|987/2070|329/689||	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3662,362,0
chr1	16759413	rs1805293	C	G	765.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.159;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.65;MQRankSum=-3.7;QD=7.89;ReadPosRankSum=-1.629;SOR=0.702;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805293;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|7/14|c.927-14G>C||||||	GT:AD:DP:GQ:PL	0/1:61,36:97:99:794,0,1630
chr1	16759504	rs59375146;rs758788032	CCCCG	C	607.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=5.528;MLEAC=1;MLEAF=0.5;MQ=43.46;MQRankSum=-2.047;QD=24.31;ReadPosRankSum=0.085;SOR=0.116;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs370644748,rs59375146;dbSNPBuildID=144,129;ANN=C|frameshift_variant|HIGH|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|7/15|c.894_897delCGGG|p.Gly300fs|897/4668|894/2070|298/689||;LOF=(MST1L|MST1L|1|1.00)	GT:AD:DP:GQ:PL	0/1:9,16:25:99:645,0,321
chr1	16759557	rs1057286	T	C	278.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.81;QD=30.98;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1057286;dbSNPBuildID=114;ANN=C|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|7/15|c.845A>G|p.His282Arg|845/4668|845/2070|282/689||;p3_1000G_AA=.|||;p3_1000G_AC=4982;p3_1000G_AF=0.994808;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=9138;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17086052;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:307,27,0
chr1	16759741	rs61769737	G	C	253.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.683;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.97;MQRankSum=-2.764;QD=2.99;ReadPosRankSum=0.116;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371373882;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|6/14|c.716-55C>G||||||	GT:AD:DP:GQ:PL	0/1:66,19:85:99:282,0,1686
chr1	16759816	rs61769739	G	T	260.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.979;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=12.734;MLEAC=1;MLEAF=0.5;MQ=39.48;MQRankSum=-0.93;QD=4.92;ReadPosRankSum=-0.933;SOR=2.708;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374633697;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|6/14|c.715+73C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1281;p3_1000G_AF=0.255791;p3_1000G_AFR_AF=0.3843;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=27838;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.1501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17086311;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:39,14:53:99:289,0,1052
chr1	16759955	rs2761540	C	G	121.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.481;MLEAC=1;MLEAF=0.5;MQ=34.48;MQRankSum=0.969;QD=5.07;ReadPosRankSum=1.14;SOR=0.574;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200858362;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|6/15|c.649G>C|p.Glu217Gln|649/4668|649/2070|217/689||	GT:AD:DP:GQ:PL	0/1:17,7:24:99:150,0,484
chr1	16759969	rs2761541	T	C	105.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.655;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=34;MQRankSum=1.46;QD=5.29;ReadPosRankSum=0.725;SOR=0.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201407059;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|6/15|c.635A>G|p.Asn212Ser|635/4668|635/2070|212/689||	GT:AD:DP:GQ:PL	0/1:14,6:20:99:134,0,419
chr1	16760043	rs1736755	T	G	152.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.58;QD=27.23;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs199530717;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|5/14|c.597-36A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:16760043_T_G:180,12,0
chr1	16760046	rs61772253	T	C	136.9	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=28.72;MQRankSum=0.524;QD=27.38;ReadPosRankSum=1.28;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200649629;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|5/14|c.597-39A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,4:5:15:0|1:16760043_T_G:165,0,15
chr1	16760375	rs2261727	T	C	1743.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.89;QD=33.53;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201604637;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|4/15|c.454A>G|p.Ser152Gly|454/4668|454/2070|152/689||;p3_1000G_AA=.|||;p3_1000G_AC=2506;p3_1000G_AF=0.500399;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=18293;p3_1000G_EAS_AF=0.7867;p3_1000G_EUR_AF=0.503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17086870;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1772,156,0
chr1	16760446	rs28462251	C	T	94.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.136;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=4.875;MLEAC=1;MLEAF=0.5;MQ=44.92;MQRankSum=-0.862;QD=1.03;ReadPosRankSum=0.858;SOR=1.7;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28462251;dbSNPBuildID=125;ANN=T|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|4/15|c.383G>A|p.Arg128His|383/4668|383/2070|128/689||;p3_1000G_AA=.|||;p3_1000G_AC=911;p3_1000G_AF=0.181909;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=35567;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.2038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17086941;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:80,12:92:99:123,0,2480
chr1	16760749	rs58502471;rs796218806	AC	A	1693.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.45;ClippingRankSum=0;DP=160;ExcessHet=3.0103;FS=16.154;MLEAC=1;MLEAF=0.5;MQ=53.8;MQRankSum=0.921;QD=10.93;ReadPosRankSum=-0.939;SOR=0.9;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs58502471;dbSNPBuildID=137,146;ANN=A|splice_donor_variant&intron_variant|HIGH|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|3/14|c.338+1delG||||||;LOF=(MST1L|MST1L|1|1.00);p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=1243;p3_1000G_AF=0.248203;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=51253;p3_1000G_EAS_AF=0.3621;p3_1000G_EUR_AF=0.2654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17087244;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:87,68:155:99:1731,0,2421
chr1	16760767	rs2926375	C	T	1068.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.518;ClippingRankSum=0;DP=177;ExcessHet=3.0103;FS=0.636;MLEAC=1;MLEAF=0.5;MQ=55.38;MQRankSum=-3.083;QD=6.04;ReadPosRankSum=0.59;SOR=0.782;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2926375;dbSNPBuildID=101;ANN=T|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|3/15|c.322G>A|p.Glu108Lys|322/4668|322/2070|108/689||	GT:AD:DP:GQ:PL	0/1:131,46:177:99:1097,0,4205
chr1	16760797	rs2179161	A	G	488.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.88;ClippingRankSum=0;DP=216;ExcessHet=3.0103;FS=12.429;MLEAC=1;MLEAF=0.5;MQ=57.69;MQRankSum=-11.25;QD=2.26;ReadPosRankSum=-3.142;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2179161;dbSNPBuildID=96;ANN=G|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|3/15|c.292T>C|p.Trp98Arg|292/4668|292/2070|98/689||	GT:AD:DP:GQ:PGT:PID:PL	0/1:190,26:216:99:0|1:16760797_A_G:517,0,7824
chr1	16760804	rs2179162	T	C	579.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.92;ClippingRankSum=0;DP=223;ExcessHet=3.0103;FS=10.036;MLEAC=1;MLEAF=0.5;MQ=58.26;MQRankSum=-12.58;QD=2.6;ReadPosRankSum=-2.286;SOR=1.645;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2179162;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|3/15|c.285A>G|p.Ser95Ser|285/4668|285/2070|95/689||	GT:AD:DP:GQ:PGT:PID:PL	0/1:195,28:223:99:0|1:16760797_A_G:608,0,8252
chr1	16760810	rs12046578	G	C	659.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=228;ExcessHet=3.0103;FS=13.257;MLEAC=1;MLEAF=0.5;MQ=58.36;MQRankSum=-12.52;QD=2.89;ReadPosRankSum=-2.061;SOR=1.861;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12046578;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|3/15|c.279C>G|p.Pro93Pro|279/4668|279/2070|93/689||	GT:AD:DP:GQ:PGT:PID:PL	0/1:197,31:228:99:0|1:16760797_A_G:688,0,8169
chr1	16760870	rs2446556	C	G	6215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.3;ClippingRankSum=0;DP=304;ExcessHet=3.0103;FS=0.45;MLEAC=1;MLEAF=0.5;MQ=58.9;MQRankSum=-3.875;QD=20.45;ReadPosRankSum=1.18;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2446556;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|3/15|c.219G>C|p.Ala73Ala|219/4668|219/2070|73/689||	GT:AD:DP:GQ:PL	0/1:100,204:304:99:6244,0,2407
chr1	16760970	rs11260924	G	A	2320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.138;ClippingRankSum=0;DP=394;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.58;MQRankSum=-6.39;QD=5.89;ReadPosRankSum=1.18;SOR=0.715;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11260924;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|2/15|c.200C>T|p.Pro67Leu|200/4668|200/2070|67/689||	GT:AD:DP:GQ:PL	0/1:281,113:394:99:2349,0,8002
chr1	16761026	rs11589598	G	A	708.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.965;ClippingRankSum=0;DP=320;ExcessHet=3.0103;FS=1.183;MLEAC=1;MLEAF=0.5;MQ=55.72;MQRankSum=-5.6;QD=2.21;ReadPosRankSum=-2.229;SOR=0.581;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11589598;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|2/15|c.144C>T|p.Pro48Pro|144/4668|144/2070|48/689||	GT:AD:DP:GQ:PL	0/1:264,56:320:99:737,0,7728
chr1	16761046	rs113982165;rs56364660	GGTGCT	G	2683.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.185;ClippingRankSum=0;DP=298;ExcessHet=3.0103;FS=1.675;MLEAC=1;MLEAF=0.5;MQ=54.64;MQRankSum=-8.197;QD=9.19;ReadPosRankSum=-1.108;SOR=0.838;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs113982165,rs56364660;dbSNPBuildID=132,129;ANN=G|frameshift_variant|HIGH|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|2/15|c.119_123delAGCAC|p.Gln40fs|123/4668|119/2070|40/689||;LOF=(MST1L|MST1L|1|1.00)	GT:AD:DP:GQ:PL	0/1:212,80:292:99:2721,0,9043
chr1	16761087	rs10907280	G	A	2418.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.232;ClippingRankSum=0;DP=211;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.17;MQRankSum=-13.45;QD=11.46;ReadPosRankSum=-0.714;SOR=0.668;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10907280;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|MST1L|MST1L|transcript|NM_001271733.1|protein_coding|2/15|c.83C>T|p.Ser28Leu|83/4668|83/2070|28/689||	GT:AD:DP:GQ:PL	0/1:114,97:211:99:2447,0,3503
chr1	16868650	rs944149	G	C	811.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.135;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=10.754;MLEAC=1;MLEAF=0.5;MQ=50.77;MQRankSum=-9.163;QD=8.73;ReadPosRankSum=0.515;SOR=1.652;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116833708;dbSNPBuildID=89;ANN=C|intergenic_region|MODIFIER|MIR3675-LOC105376805|MIR3675.3-LOC105376805|intergenic_region|MIR3675.3-LOC105376805|||n.16868650G>C||||||	GT:AD:DP:GQ:PL	0/1:58,35:93:99:840,0,1728
chr1	16868756	rs1351615556	C	G	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.086;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=34.19;MLEAC=1;MLEAF=0.5;MQ=41.94;MQRankSum=-3.954;QD=2.74;ReadPosRankSum=-1.705;SOR=2.783;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|MIR3675-LOC105376805|MIR3675.3-LOC105376805|intergenic_region|MIR3675.3-LOC105376805|||n.16868756C>G||||||	GT:AD:DP:GQ:PL	0/1:49,13:62:99:198,0,1482
chr1	16868806	rs3897250	C	G	377.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.676;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=21.848;MLEAC=1;MLEAF=0.5;MQ=35.87;MQRankSum=-2.213;QD=8.59;ReadPosRankSum=-0.485;SOR=2.231;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199620659;dbSNPBuildID=108;ANN=G|intergenic_region|MODIFIER|MIR3675-LOC105376805|MIR3675.3-LOC105376805|intergenic_region|MIR3675.3-LOC105376805|||n.16868806C>G||||||	GT:AD:DP:GQ:PL	0/1:26,18:44:99:406,0,792
chr1	16868896	rs61769550	G	C	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.448;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.379;MLEAC=1;MLEAF=0.5;MQ=40.31;MQRankSum=-0.623;QD=2.41;ReadPosRankSum=0.492;SOR=1.011;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138058049;dbSNPBuildID=131;ANN=C|intergenic_region|MODIFIER|MIR3675-LOC105376805|MIR3675.3-LOC105376805|intergenic_region|MIR3675.3-LOC105376805|||n.16868896G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1865;p3_1000G_AF=0.372404;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs138058049;p3_1000G_DP=58249;p3_1000G_EAS_AF=0.374;p3_1000G_EUR_AF=0.3191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17195391;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,10:43:99:132,0,895
chr1	16868977	rs61768103	T	C	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.73;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=5.849;MLEAC=1;MLEAF=0.5;MQ=46.66;MQRankSum=-3.673;QD=7.67;ReadPosRankSum=-0.725;SOR=2.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77888806;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|MIR3675-LOC105376805|MIR3675.3-LOC105376805|intergenic_region|MIR3675.3-LOC105376805|||n.16868977T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1826;p3_1000G_AF=0.364617;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=46417;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.3579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17195472;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,9:25:99:220,0,451
chr1	16922005	rs6683035	A	G	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.72;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.412;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6683035;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|1/37|c.-14A>G|||||14|;ESP6500_AA=A;ESP6500_AA_AC=1438,2794;ESP6500_AA_GTC=125,1188,803;ESP6500_CDS_SIZES=NM_014675.3:6054;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=9;ESP6500_EA_AC=3945,4285;ESP6500_EA_GTC=613,2719,783;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014675.3:utr-5;ESP6500_GL=CROCC;ESP6500_GRCh38_POSITION=1:16922005;ESP6500_GTC=738,3907,1586;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014675.3:c.-14A>G;ESP6500_MAF=47.9344,33.9792,43.1953;ESP6500_TAC=5383,7079	GT:AD:DP:GQ:PL	0/1:12,13:25:99:311,0,252
chr1	16924078	rs3936146	T	C	562.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3936146;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|2/36|c.197-247T>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=4256;p3_1000G_AF=0.84984;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=28451;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.9026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17250573;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7689;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:591,45,0
chr1	16924155	rs60010630	C	T	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.195;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.584;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=1.05;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60010630;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|2/36|c.197-170C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=906;p3_1000G_AF=0.180911;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=28731;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17250650;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,18:45:99:436,0,932
chr1	16924267	rs58609892	G	C	1087.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=116;ExcessHet=3.0103;FS=0.728;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=1.88;SOR=0.566;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58609892;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|2/36|c.197-58G>C||||||	GT:AD:DP:GQ:PL	0/1:74,42:116:99:1116,0,2095
chr1	16924341	rs57174186	A	G	852.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.072;ClippingRankSum=0;DP=112;ExcessHet=3.0103;FS=0.75;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-2.311;SOR=0.801;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57174186;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|CROCC|CROCC|transcript|NM_014675.4|protein_coding|3/37|c.213A>G|p.Thr71Thr|282/6656|213/6054|71/2017||;ESP6500_AA=G;ESP6500_AA_AC=1667,2739;ESP6500_AA_GTC=0,1667,536;ESP6500_CDS_SIZES=NM_014675.3:6054;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=35;ESP6500_EA_AC=2771,5827;ESP6500_EA_GTC=0,2771,1528;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014675.3:coding-synonymous;ESP6500_GL=CROCC;ESP6500_GRCh38_POSITION=1:16924341;ESP6500_GTC=0,4438,2064;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014675.3:c.213A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014675.3:p.(T71);ESP6500_MAF=32.2284,37.8348,34.128;ESP6500_TAC=4438,8566	GT:AD:DP:GQ:PL	0/1:72,40:112:99:881,0,2016
chr1	16924560	rs9435703	C	T	672.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.102;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.02;ReadPosRankSum=-0.901;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9435703;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|3/36|c.351+81C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=2728;p3_1000G_AF=0.544728;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=28926;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17251055;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,25:32:99:701,0,137
chr1	16929818	rs9435710	G	A	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.344;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.652;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9435710;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|3/36|c.352-28G>A||||||	GT:AD:DP:GQ:PL	0/1:7,12:19:99:295,0,205
chr1	16930288	rs192573333	C	A	59.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.23;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=-1.059;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs192573333;dbSNPBuildID=135;ANN=A|missense_variant&splice_region_variant|MODERATE|CROCC|CROCC|transcript|NM_014675.4|protein_coding|6/37|c.624C>A|p.Asp208Glu|693/6656|624/6054|208/2017||;p3_1000G_AA=c|||;p3_1000G_AC=8;p3_1000G_AF=0.00159744;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=26536;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17256783;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,5:27:88:88,0,633
chr1	16930692	rs144414935;rs59048025	G	GTCCGAGGGAGCACTC	106.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.324;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.34;ReadPosRankSum=-1.529;SOR=0.269;INS;HET;VARTYPE=INS;dbSNP138_ID=rs144414935,rs59048025;dbSNPBuildID=134,129;ANN=GTCCGAGGGAGCACTC|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|7/36|c.849+101_849+102insGAGGGAGCACTCTCC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:15,5:20:99:144,0,1912
chr1	16936449	rs7521985	A	G	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=-0.967;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7521985;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|8/36|c.957-188A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:72:0|1:16936449_A_G:72,0,443
chr1	16936458	rs7521989	A	G	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.967;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7521989;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|8/36|c.957-179A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:99:0|1:16936449_A_G:112,0,440
chr1	16937595	rs13373796	A	G	23.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.09;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=-2.093;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13373796;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|9/36|c.1194-46A>G||||||	GT:AD:DP:GQ:PL	0/1:9,2:11:52:52,0,207
chr1	16938368	rs4275496	A	G	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.857;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4275496;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|10/36|c.1291-32A>G||||||	GT:AD:DP:GQ:PL	0/1:7,6:13:99:157,0,166
chr1	16938425	rs4463721	C	T	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.618;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=-0.479;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4463721;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|CROCC|CROCC|transcript|NM_014675.4|protein_coding|11/37|c.1316C>T|p.Ala439Val|1385/6656|1316/6054|439/2017||	GT:AD:DP:GQ:PL	0/1:12,6:18:92:92,0,390
chr1	16938444	rs4558023	T	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.824;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.65;ReadPosRankSum=-2.523;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4558023;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|CROCC|CROCC|transcript|NM_014675.4|protein_coding|11/37|c.1335T>C|p.Asp445Asp|1404/6656|1335/6054|445/2017||	GT:AD:DP:GQ:PL	0/1:12,6:18:99:112,0,307
chr1	16938832	rs4269813	A	G	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.721;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-1.314;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4269813;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|11/36|c.1375-77A>G||||||	GT:AD:DP:GQ:PL	0/1:21,20:41:99:454,0,453
chr1	16938871	rs4269812	C	G	434.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.927;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.34;SOR=0.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4269812;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|11/36|c.1375-38C>G||||||;ESP6500_AA=C;ESP6500_AA_AC=1656,2744;ESP6500_AA_GTC=11,1634,555;ESP6500_CDS_SIZES=NM_014675.3:6054;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=20;ESP6500_EA_AC=2719,5873;ESP6500_EA_GTC=8,2703,1585;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014675.3:intron;ESP6500_GL=CROCC;ESP6500_GRCh38_POSITION=1:16938871;ESP6500_GTC=19,4337,2140;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014675.3:c.1375-38C>G;ESP6500_MAF=31.6457,37.6364,33.6746;ESP6500_TAC=4375,8617	GT:AD:DP:GQ:PL	0/1:21,17:38:99:463,0,528
chr1	16939065	rs9435793	C	T	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.664;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.844;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9435793;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|CROCC|CROCC|transcript|NM_014675.4|protein_coding|12/37|c.1531C>T|p.Pro511Ser|1600/6656|1531/6054|511/2017||	GT:AD:DP:GQ:PL	0/1:7,8:15:99:239,0,216
chr1	16940041	rs9435714	G	C	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-1.296;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9435714;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|CROCC|CROCC|transcript|NM_014675.4|protein_coding|13/37|c.1756G>C|p.Asp586His|1825/6656|1756/6054|586/2017||	GT:AD:DP:GQ:PL	0/1:20,17:37:99:477,0,528
chr1	16944003	rs9435717	T	G	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.367;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.798;MLEAC=1;MLEAF=0.5;MQ=59.61;MQRankSum=-1.583;QD=4.66;ReadPosRankSum=1.31;SOR=1.015;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9435717;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|13/36|c.1809-97T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=1640;p3_1000G_AF=0.327476;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=28047;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17270498;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,8:30:99:168,0,642
chr1	16944256	rs12025984	G	A	740.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.442;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=0.94;SOR=0.832;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12025984;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|CROCC|CROCC|transcript|NM_014675.4|protein_coding|14/37|c.1965G>A|p.Ala655Ala|2034/6656|1965/6054|655/2017||;p3_1000G_AA=g|||;p3_1000G_AC=1190;p3_1000G_AF=0.23762;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=21546;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17270751;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,32:41:99:769,0,142
chr1	16944350	rs564050385	C	CG	215.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.624;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=2.36;SOR=0.416;INS;HET;VARTYPE=INS;dbSNPBuildID=142;ANN=CG|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|14/36|c.1991+68_1991+69insG||||||;p3_1000G_AA=g|-|G|deletion;p3_1000G_AC=1501;p3_1000G_AF=0.29972;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=22244;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.3072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17270845;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:15,8:23:99:253,0,536
chr1	16946901	rs7537468	A	G	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.57;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=-0.056;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7537468;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|CROCC|CROCC|transcript|NM_014675.4|protein_coding|17/37|c.2424A>G|p.Leu808Leu|2493/6656|2424/6054|808/2017||;ESP6500_AA=A;ESP6500_AA_AC=216,4104;ESP6500_AA_GTC=1,214,1945;ESP6500_CDS_SIZES=NM_014675.3:6054;ESP6500_CG=1.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=13;ESP6500_EA_AC=1332,7146;ESP6500_EA_GTC=2,1328,2909;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014675.3:coding-synonymous;ESP6500_GL=CROCC;ESP6500_GRCh38_POSITION=1:16946901;ESP6500_GTC=3,1542,4854;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014675.3:c.2424A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014675.3:p.(L808);ESP6500_MAF=15.7113,5.0,12.0956;ESP6500_TAC=1548,11250	GT:AD:DP:GQ:PL	0/1:18,5:23:99:145,0,463
chr1	16946949	rs7545185	G	A	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.844;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=-0.68;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7545185;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|CROCC|CROCC|transcript|NM_014675.4|protein_coding|17/37|c.2472G>A|p.Thr824Thr|2541/6656|2472/6054|824/2017||;ESP6500_AA=G;ESP6500_AA_AC=183,4075;ESP6500_AA_GTC=0,183,1946;ESP6500_CDS_SIZES=NM_014675.3:6054;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=9;ESP6500_EA_AC=1201,7057;ESP6500_EA_GTC=4,1193,2932;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014675.3:coding-synonymous;ESP6500_GL=CROCC;ESP6500_GRCh38_POSITION=1:16946949;ESP6500_GTC=4,1376,4878;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014675.3:c.2472G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014675.3:p.(T824);ESP6500_MAF=14.5435,4.2978,11.0578;ESP6500_TAC=1384,11132	GT:AD:DP:GQ:PL	0/1:13,4:17:71:71,0,389
chr1	16946998	rs7537563	A	C	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.88;ReadPosRankSum=0.967;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7537563;dbSNPBuildID=116;ANN=C|splice_region_variant&intron_variant|LOW|CROCC|CROCC|transcript|NM_014675.4|protein_coding|17/36|c.2514+7A>C||||||	GT:AD:DP:GQ:PL	0/1:8,2:10:57:57,0,241
chr1	16948559	rs6698564	G	C	19.81	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=9.7;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.48;ReadPosRankSum=1.24;SOR=2.209;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6698564;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|18/36|c.2708+35G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1652;p3_1000G_AF=0.329872;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=24403;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17275054;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:48:48,0,231
chr1	16948577	rs6690301	A	G	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=-0.431;SOR=2.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6690301;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|18/36|c.2708+53A>G||||||	GT:AD:DP:GQ:PL	0/1:5,2:7:63:63,0,137
chr1	16969184	rs4920574	T	C	966.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4920574;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|CROCC|CROCC|transcript|NM_014675.4|protein_coding|32/37|c.5145T>C|p.Ala1715Ala|5214/6656|5145/6054|1715/2017||;p3_1000G_AA=C|||;p3_1000G_AC=4731;p3_1000G_AF=0.944688;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=16535;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.8907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17295679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4329,69;ESP6500_AA_GTC=2132,65,2;ESP6500_CDS_SIZES=NM_014675.3:6054;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=22;ESP6500_EA_AC=7710,888;ESP6500_EA_GTC=3455,800,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014675.3:coding-synonymous;ESP6500_GL=CROCC;ESP6500_GRCh38_POSITION=1:16969184;ESP6500_GTC=5587,865,46;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014675.3:c.5145T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014675.3:p.(A1715);ESP6500_MAF=10.328,1.5689,7.3638;ESP6500_TAC=12039,957	GT:AD:DP:GQ:PL	1/1:0,29:29:87:995,87,0
chr1	16970794	rs9435656	C	T	356.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9435656;dbSNPBuildID=119;ANN=T|downstream_gene_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_002403.3|protein_coding||c.*4126G>A|||||3710|,T|downstream_gene_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_001135248.1|protein_coding||c.*4126G>A|||||3710|,T|downstream_gene_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_001135247.1|protein_coding||c.*4126G>A|||||3710|,T|downstream_gene_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_017459.2|protein_coding||c.*4126G>A|||||3710|,T|intron_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|35/36|c.5784+27C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3201;p3_1000G_AF=0.639177;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=17560;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.7505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17297289;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1831,2569;ESP6500_AA_GTC=418,995,787;ESP6500_CDS_SIZES=NM_014675.3:6054;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=16;ESP6500_EA_AC=6252,2334;ESP6500_EA_GTC=2279,1694,320;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014675.3:intron;ESP6500_GL=CROCC;ESP6500_GRCh38_POSITION=1:16970794;ESP6500_GTC=2697,2689,1107;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014675.3:c.5784+27C>T;ESP6500_MAF=27.1838,41.6136,37.756;ESP6500_TAC=8083,4903	GT:AD:DP:GQ:PL	1/1:0,11:11:33:385,33,0
chr1	16972519	rs6661019	A	C	313.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6661019;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding|37/37|c.*73A>C|||||73|,C|downstream_gene_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_002403.3|protein_coding||c.*2401T>G|||||1985|,C|downstream_gene_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_001135248.1|protein_coding||c.*2401T>G|||||1985|,C|downstream_gene_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_001135247.1|protein_coding||c.*2401T>G|||||1985|,C|downstream_gene_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_017459.2|protein_coding||c.*2401T>G|||||1985|;p3_1000G_AA=-|||;p3_1000G_AC=2760;p3_1000G_AF=0.551118;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=13472;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.5626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17299014;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:342,24,0
chr1	16974953	rs2235933	C	T	770.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.54;QD=33.56;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2235933;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|MFAP2|MFAP2|transcript|NM_002403.3|protein_coding|9/9|c.519G>A|p.Ala173Ala|652/1101|519/552|173/183||,T|synonymous_variant|LOW|MFAP2|MFAP2|transcript|NM_001135248.1|protein_coding|9/9|c.516G>A|p.Ala172Ala|649/1098|516/549|172/182||,T|synonymous_variant|LOW|MFAP2|MFAP2|transcript|NM_001135247.1|protein_coding|9/9|c.516G>A|p.Ala172Ala|630/1079|516/549|172/182||,T|synonymous_variant|LOW|MFAP2|MFAP2|transcript|NM_017459.2|protein_coding|9/9|c.519G>A|p.Ala173Ala|633/1082|519/552|173/183||,T|downstream_gene_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding||c.*2507C>T|||||1974|;p3_1000G_AA=C|||;p3_1000G_AC=1708;p3_1000G_AF=0.341054;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=11792;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.2833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17301448;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:799,63,0
chr1	16975405	rs3830850;rs79784605;rs71744647	AGACAGAACCTGGCACGGGAGCCCG	A	952.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=1.426;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3830850,rs79784605;dbSNPBuildID=107,131;ANN=A|downstream_gene_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding||c.*2960_*2983delGACAGAACCTGGCACGGGAGCCCG|||||2427|,A|intron_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_002403.3|protein_coding|7/8|c.375-87_375-64delCGGGCTCCCGTGCCAGGTTCTGTC||||||,A|intron_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_001135248.1|protein_coding|7/8|c.372-87_372-64delCGGGCTCCCGTGCCAGGTTCTGTC||||||,A|intron_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_001135247.1|protein_coding|7/8|c.372-87_372-64delCGGGCTCCCGTGCCAGGTTCTGTC||||||,A|intron_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_017459.2|protein_coding|7/8|c.375-87_375-64delCGGGCTCCCGTGCCAGGTTCTGTC||||||;p3_1000G_AC=1541;p3_1000G_AF=0.307708;p3_1000G_AFR_AF=0.3116;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=17839;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17301900;p3_1000G_GRCH37_REF=AGACAGAACCTGGCACGGGAGCCCG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=INDEL;ESP6500_AA_AC=1183,2805;ESP6500_AA_GTC=294,595,1105;ESP6500_CDS_SIZES=NM_017459.2:552,NM_002403.3:552,NM_001135248.1:549,NM_001135247.1:549;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=22;ESP6500_EA_AC=2100,5730;ESP6500_EA_GTC=450,1200,2265;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017459.2:intron,NM_002403.3:intron,NM_001135248.1:intron,NM_001135247.1:intron;ESP6500_GL=MFAP2;ESP6500_GRCh38_POSITION=1:16975405;ESP6500_GTC=744,1795,3370;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_017459.2:c.375-87_375-64del24,NM_002403.3:c.375-87_375-64del24,NM_001135248.1:c.372-87_372-64del24,NM_001135247.1:c.372-87_372-64del24;ESP6500_MAF=26.8199,29.664,27.7797;ESP6500_TAC=3283,8535	GT:AD:DP:GQ:PL	1/1:0,23:23:75:990,75,0
chr1	16977297	rs4920588	C	T	303.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4920588;dbSNPBuildID=111;ANN=T|downstream_gene_variant|MODIFIER|CROCC|CROCC|transcript|NM_014675.4|protein_coding||c.*4851C>T|||||4318|,T|intron_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_002403.3|protein_coding|2/8|c.38-99G>A||||||,T|intron_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_001135248.1|protein_coding|2/8|c.38-102G>A||||||,T|intron_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_001135247.1|protein_coding|2/8|c.38-102G>A||||||,T|intron_variant|MODIFIER|MFAP2|MFAP2|transcript|NM_017459.2|protein_coding|2/8|c.38-99G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3903;p3_1000G_AF=0.779353;p3_1000G_AFR_AF=0.7126;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=16893;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.8032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17303792;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:332,27,0
chr1	16986749	rs143483351;rs377380258;rs369142791	CCCCAGGGCTCCT	C	1559.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=1.209;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs143483351,rs377380258;dbSNPBuildID=134,138;ANN=C|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_022089.3|protein_coding|27/28|c.3235+44_3235+55delAGGAGCCCTGGG||||||,C|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141973.2|protein_coding|27/28|c.3220+44_3220+55delAGGAGCCCTGGG||||||,C|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141974.2|protein_coding|26/26|c.3103+44_3103+55delAGGAGCCCTGGG||||||;p3_1000G_AC=1528;p3_1000G_AF=0.305112;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=12010;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17313244;p3_1000G_GRCH37_REF=CCCCAGGGCTCCT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1597,109,0
chr1	16986959	rs7531163;128471	G	A	1542.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.55;SOR=1.651;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7531163;dbSNPBuildID=116;ANN=A|splice_region_variant&intron_variant|LOW|ATP13A2|ATP13A2|transcript|NM_022089.3|protein_coding|26/28|c.3084-3C>T||||||,A|splice_region_variant&intron_variant|LOW|ATP13A2|ATP13A2|transcript|NM_001141973.2|protein_coding|26/28|c.3069-3C>T||||||,A|splice_region_variant&intron_variant|LOW|ATP13A2|ATP13A2|transcript|NM_001141974.2|protein_coding|25/26|c.2952-3C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1535;p3_1000G_AF=0.30651;p3_1000G_AFR_AF=0.1467;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=12673;p3_1000G_EAS_AF=0.5774;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17313454;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=743,3663;ESP6500_AA_AGE=301.0+/-286.6;ESP6500_AA_GTC=64,615,1524;ESP6500_CDS_SIZES=NM_022089.2:3543,NM_001141974.1:3477,NM_001141973.1:3528;ESP6500_CG=3.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=66;ESP6500_EA_AC=2057,6543;ESP6500_EA_AGE=354.4+/-329.5;ESP6500_EA_GTC=220,1617,2463;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022089.2:intron,NM_001141974.1:intron,NM_001141973.1:intron;ESP6500_GL=ATP13A2;ESP6500_GRCh38_POSITION=1:16986959;ESP6500_GTC=284,2232,3987;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022089.2:c.3084-3C>T,NM_001141974.1:c.2952-3C>T,NM_001141973.1:c.3069-3C>T;ESP6500_MAF=23.9186,16.8634,21.5285;ESP6500_TAC=2800,10206;CLINVAR_AF_ESP=0.2153;CLINVAR_AF_EXAC=0.27393;CLINVAR_AF_TGP=0.3065;CLINVAR_ALLELEID=133920;CLINVAR_CLNDISDB=MedGen:C1847640,OMIM:606693,Orphanet:ORPHA306674|MedGen:CN169374;CLINVAR_CLNDN=Parkinson_disease_9|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16986959G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:485;CLINVAR_GENEINFO=ATP13A2:23400;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7531163	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1571,163,0
chr1	16988207	rs3738815;128468	C	T	3099.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738815;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|ATP13A2|ATP13A2|transcript|NM_022089.3|protein_coding|25/29|c.2790G>A|p.Ser930Ser|3024/4040|2790/3543|930/1180||,T|synonymous_variant|LOW|ATP13A2|ATP13A2|transcript|NM_001141973.2|protein_coding|25/29|c.2775G>A|p.Ser925Ser|3009/4025|2775/3528|925/1175||,T|synonymous_variant|LOW|ATP13A2|ATP13A2|transcript|NM_001141974.2|protein_coding|24/27|c.2658G>A|p.Ser886Ser|2892/3738|2658/3477|886/1158||;p3_1000G_AA=C|||;p3_1000G_AC=1457;p3_1000G_AF=0.290935;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=21211;p3_1000G_EAS_AF=0.5774;p3_1000G_EUR_AF=0.2058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17314702;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=659,3747;ESP6500_AA_AGE=280.5+/-275.4;ESP6500_AA_GTC=56,547,1600;ESP6500_CDS_SIZES=NM_022089.2:3543,NM_001141974.1:3477,NM_001141973.1:3528;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=132;ESP6500_EA_AC=1657,6943;ESP6500_EA_AGE=305.7+/-307.6;ESP6500_EA_GTC=145,1367,2788;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022089.2:coding-synonymous,NM_001141974.1:coding-synonymous,NM_001141973.1:coding-synonymous;ESP6500_GL=ATP13A2;ESP6500_GRCh38_POSITION=1:16988207;ESP6500_GTC=201,1914,4388;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022089.2:c.2790G>A,NM_001141974.1:c.2658G>A,NM_001141973.1:c.2775G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022089.2:p.(S930),NM_001141974.1:p.(S886),NM_001141973.1:p.(S925);ESP6500_MAF=19.2674,14.9569,17.8072;ESP6500_TAC=2316,10690;CLINVAR_AF_ESP=0.1781;CLINVAR_AF_EXAC=0.24144;CLINVAR_AF_TGP=0.2909;CLINVAR_ALLELEID=133917;CLINVAR_CLNDISDB=MedGen:C1847640,OMIM:606693,Orphanet:ORPHA306674|MedGen:CN169374;CLINVAR_CLNDN=Parkinson_disease_9|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.16988207C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498;CLINVAR_GENEINFO=ATP13A2:23400;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3738815	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3128,291,0
chr1	16989878	rs200809857;293778	C	T	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.036;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200809857;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_022089.3|protein_coding|22/28|c.2529+9G>A||||||,T|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141973.2|protein_coding|22/28|c.2514+9G>A||||||,T|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141974.2|protein_coding|21/26|c.2398-108G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15683;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17316373;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00041;CLINVAR_AF_TGP=0.0008;CLINVAR_ALLELEID=277309;CLINVAR_CLNDISDB=MedGen:C1847640,OMIM:606693,Orphanet:ORPHA306674;CLINVAR_CLNDN=Parkinson_disease_9;CLINVAR_CLNHGVS=NC_000001.11:g.16989878C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:643090;CLINVAR_GENEINFO=ATP13A2:23400;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=200809857	GT:AD:DP:GQ:PL	0/1:12,13:25:99:350,0,273
chr1	16996703	rs2076602	A	T	228.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076602;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_022089.3|protein_coding|12/28|c.1196-207T>A||||||,T|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141973.2|protein_coding|12/28|c.1181-207T>A||||||,T|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141974.2|protein_coding|12/26|c.1181-207T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1458;p3_1000G_AF=0.291134;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=16608;p3_1000G_EAS_AF=0.5804;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17323198;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:257,21,0
chr1	16996954	rs9435736	T	C	254.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9435736;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_022089.3|protein_coding|12/28|c.1195+66A>G||||||,C|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141973.2|protein_coding|12/28|c.1180+66A>G||||||,C|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141974.2|protein_coding|12/26|c.1180+66A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3969;p3_1000G_AF=0.792532;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=14385;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17323449;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:283,21,0
chr1	17005181	rs3738814	A	G	935.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.59;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738814;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_022089.3|protein_coding|3/28|c.289-109T>C||||||,G|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141973.2|protein_coding|3/28|c.289-109T>C||||||,G|intron_variant|MODIFIER|ATP13A2|ATP13A2|transcript|NM_001141974.2|protein_coding|3/26|c.289-109T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3020;p3_1000G_AF=0.603035;p3_1000G_AFR_AF=0.6573;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=15065;p3_1000G_EAS_AF=0.7331;p3_1000G_EUR_AF=0.4503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17331676;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:964,78,0
chr1	17033181	rs1022580;258889	C	A	675.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1022580;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SDHB|SDHB|transcript|NM_003000.2|protein_coding|2/7|c.201-36G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4803;p3_1000G_AF=0.959065;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=18753;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17359676;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4020,386;ESP6500_AA_AGE=191.6+/-217.2;ESP6500_AA_GTC=1837,346,20;ESP6500_CDS_SIZES=NM_003000.2:843;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=43;ESP6500_EA_AC=8366,234;ESP6500_EA_AGE=94.0+/-155.9;ESP6500_EA_GTC=4067,232,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003000.2:intron;ESP6500_GL=SDHB;ESP6500_GRCh38_POSITION=1:17033181;ESP6500_GTC=5904,578,21;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_003000.2:c.201-36G>T;ESP6500_MAF=2.7209,8.7608,4.767;ESP6500_TAC=12386,620;CLINVAR_ALLELEID=249532;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.17033181C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SDHB:6390;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1022580	GT:AD:DP:GQ:PL	1/1:0,23:23:69:704,69,0
chr1	17051022	rs2295058	A	G	2288.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=0.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2295058;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SDHB|SDHB|transcript|NM_003000.2|protein_coding|1/7|c.72+2926T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1842;p3_1000G_AF=0.367812;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=18756;p3_1000G_EAS_AF=0.625;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17377517;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2317,207,0
chr1	17052534	rs2235928	A	G	1013.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.54;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2235928;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|SDHB|SDHB|transcript|NM_003000.2|protein_coding|1/7|c.72+1414T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1322;p3_1000G_AF=0.263978;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=20253;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17379029;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:17052534_A_G:1042,81,0
chr1	17054002	rs2746462;44641	G	T	1684.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2746462;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|SDHB|SDHB|transcript|NM_003000.2|protein_coding|1/8|c.18C>A|p.Ala6Ala|169/1149|18/843|6/280||;p3_1000G_AA=T|||;p3_1000G_AC=4793;p3_1000G_AF=0.957069;p3_1000G_AFR_AF=0.8797;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=13197;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17380497;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4005,399;ESP6500_AA_GTC=1825,355,22;ESP6500_CDS_SIZES=NM_003000.2:843;ESP6500_CG=1.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=8366,232;ESP6500_EA_GTC=4068,230,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003000.2:coding-synonymous;ESP6500_GL=SDHB;ESP6500_GRCh38_POSITION=1:17054002;ESP6500_GTC=5893,585,23;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003000.2:c.18C>A;ESP6500_HGVS_PROTEIN_VAR=NM_003000.2:p.(A6);ESP6500_MAF=2.6983,9.0599,4.8531;ESP6500_TAC=12371,631;CLINVAR_ALLELEID=53808;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1847319,OMIM:606864,Orphanet:ORPHA97286|MedGen:CN169374;CLINVAR_CLNDN=Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|Paraganglioma_and_gastric_stromal_sarcoma|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.17054002G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:2007|Illumina_Clinical_Services_Laboratory,Illumina:511;CLINVAR_GENEINFO=SDHB:6390;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2746462	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1713,177,0
chr1	17068985	rs2076599	G	A	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.054;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.449;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076599;dbSNPBuildID=96;ANN=A|3_prime_UTR_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|16/16|c.*59C>T|||||59|;p3_1000G_AA=G|||;p3_1000G_AC=2211;p3_1000G_AF=0.441494;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=18933;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.5905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17395480;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,12:26:99:308,0,438
chr1	17069026	rs2076598	G	A	646.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.342;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.779;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076598;dbSNPBuildID=96;ANN=A|3_prime_UTR_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|16/16|c.*18C>T|||||18|;p3_1000G_AA=A|||;p3_1000G_AC=2211;p3_1000G_AF=0.441494;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=19502;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.5905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17395521;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1694,2712;ESP6500_AA_AGE=650.9+/-399.1;ESP6500_AA_GTC=320,1054,829;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=56;ESP6500_EA_AC=5150,3450;ESP6500_EA_AGE=503.5+/-375.9;ESP6500_EA_GTC=1513,2124,663;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:utr-3;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17069026;ESP6500_GTC=1833,3178,1492;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.*18C>T;ESP6500_MAF=40.1163,38.4476,47.3781;ESP6500_TAC=6844,6162	GT:AD:DP:GQ:PL	0/1:23,25:48:99:675,0,561
chr1	17070208	rs2076595	T	C	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.348;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.339;SOR=0.706;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076595;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|PADI2|PADI2|transcript|NM_007365.2|protein_coding|15/16|c.1644A>G|p.Leu548Leu|1726/4363|1644/1998|548/665||;p3_1000G_AA=C|||;p3_1000G_AC=2227;p3_1000G_AF=0.444688;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=19975;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.5905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17396703;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1728,2678;ESP6500_AA_AGE=649.3+/-398.9;ESP6500_AA_GTC=334,1060,809;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=139;ESP6500_EA_AC=5151,3449;ESP6500_EA_AGE=506.6+/-376.6;ESP6500_EA_GTC=1514,2123,663;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:coding-synonymous;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17070208;ESP6500_GTC=1848,3183,1472;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1644A>G;ESP6500_HGVS_PROTEIN_VAR=NM_007365.2:p.(L548);ESP6500_MAF=40.1047,39.2192,47.109;ESP6500_TAC=6879,6127	GT:AD:DP:GQ:PL	0/1:17,15:32:99:364,0,418
chr1	17071571	rs875219	G	C	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.136;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.09;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs875219;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|13/15|c.1550-80C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2643;p3_1000G_AF=0.527756;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=20519;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17398066;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,5:15:99:0|1:17071571_G_C:180,0,654
chr1	17071574	rs875218	T	C	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.516;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.02;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs875218;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|13/15|c.1550-83A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2643;p3_1000G_AF=0.527756;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=20766;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17398069;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,5:15:99:0|1:17071571_G_C:180,0,654
chr1	17074788	rs3818041	C	T	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.026;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.799;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=1.17;SOR=0.362;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818041;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|13/15|c.1549+68G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2637;p3_1000G_AF=0.526558;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=18754;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17401283;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,14:25:99:349,0,308
chr1	17075621	rs3818035	G	T	534.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.545;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=-0.758;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818035;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|12/15|c.1455+58C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2636;p3_1000G_AF=0.526358;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=17481;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17402116;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,20:32:99:563,0,298
chr1	17075640	rs3818034	T	C	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.077;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.519;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=-1.488;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818034;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|12/15|c.1455+39A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2635;p3_1000G_AF=0.526158;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=15807;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.6561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17402135;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2384,2022;ESP6500_AA_GTC=645,1094,464;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=40;ESP6500_EA_AC=5623,2977;ESP6500_EA_GTC=1848,1927,525;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17075640;ESP6500_GTC=2493,3021,989;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1455+39A>G;ESP6500_MAF=34.6163,45.892,38.4361;ESP6500_TAC=8007,4999	GT:AD:DP:GQ:PL	0/1:11,23:34:99:654,0,270
chr1	17075664	rs3818033	G	A	709.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.71;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=-0.757;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818033;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|12/15|c.1455+15C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2633;p3_1000G_AF=0.525759;p3_1000G_AFR_AF=0.4826;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=16476;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.6561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17402159;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2385,2021;ESP6500_AA_AGE=556.4+/-379.5;ESP6500_AA_GTC=644,1097,462;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=62;ESP6500_EA_AC=5618,2982;ESP6500_EA_AGE=455.6+/-363.8;ESP6500_EA_GTC=1843,1932,525;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17075664;ESP6500_GTC=2487,3029,987;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1455+15C>T;ESP6500_MAF=34.6744,45.8693,38.4669;ESP6500_TAC=8003,5003	GT:AD:DP:GQ:PL	0/1:15,27:42:99:738,0,359
chr1	17075760	rs3818032	C	T	830.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.132;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.93;SOR=0.724;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818032;dbSNPBuildID=107;ANN=T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N20:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N22:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N24:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N25:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N26:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N28:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2A:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2B:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2D:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2E:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2F:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2G:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2H:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2I:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2K:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2L:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2M:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|structural_interaction_variant|HIGH|PADI2|PADI2|interaction|4N2N:A_428-A_458:NM_007365.2|protein_coding|12/16|c.1374G>A||||||,T|synonymous_variant|LOW|PADI2|PADI2|transcript|NM_007365.2|protein_coding|12/16|c.1374G>A|p.Ala458Ala|1456/4363|1374/1998|458/665||;p3_1000G_AA=C|||;p3_1000G_AC=2634;p3_1000G_AF=0.525958;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18334;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.6561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17402255;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2384,2022;ESP6500_AA_AGE=612.8+/-392.0;ESP6500_AA_GTC=643,1098,462;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-8.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=96;ESP6500_EA_AC=5616,2984;ESP6500_EA_AGE=665.8+/-402.3;ESP6500_EA_GTC=1841,1934,525;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:coding-synonymous;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17075760;ESP6500_GTC=2484,3032,987;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1374G>A;ESP6500_HGVS_PROTEIN_VAR=NM_007365.2:p.(A458);ESP6500_MAF=34.6977,45.892,38.4899;ESP6500_TAC=8000,5006	GT:AD:DP:GQ:PL	0/1:23,35:58:99:859,0,609
chr1	17075852	rs2647205	C	T	847.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2647205;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|11/15|c.1311-29G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4924;p3_1000G_AF=0.983227;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=18747;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9732;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17402347;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4243,163;ESP6500_AA_AGE=108.6+/-147.0;ESP6500_AA_GTC=2041,161,1;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=8384,216;ESP6500_EA_AGE=90.6+/-152.8;ESP6500_EA_GTC=4084,216,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17075852;ESP6500_GTC=6125,377,1;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1311-29G>A;ESP6500_MAF=2.5116,3.6995,2.914;ESP6500_TAC=12627,379	GT:AD:DP:GQ:PL	1/1:0,26:26:78:876,78,0
chr1	17079314	rs2057096	G	A	450.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.932;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=7.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.55;SOR=1.238;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2057096;dbSNPBuildID=94;ANN=A|synonymous_variant|LOW|PADI2|PADI2|transcript|NM_007365.2|protein_coding|11/16|c.1260C>T|p.Asn420Asn|1342/4363|1260/1998|420/665||;p3_1000G_AA=G|||;p3_1000G_AC=2176;p3_1000G_AF=0.434505;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=14866;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.5726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17405809;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1593,2813;ESP6500_AA_AGE=495.1+/-363.2;ESP6500_AA_GTC=275,1043,885;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=64;ESP6500_EA_AC=4972,3628;ESP6500_EA_AGE=624.5+/-397.6;ESP6500_EA_GTC=1423,2126,751;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:coding-synonymous;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17079314;ESP6500_GTC=1698,3169,1636;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1260C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007365.2:p.(N420);ESP6500_MAF=42.186,36.1552,49.5233;ESP6500_TAC=6565,6441	GT:AD:DP:GQ:PL	0/1:38,22:60:99:479,0,1029
chr1	17079421	rs2057095	C	T	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.408;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=5.288;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.626;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2057095;dbSNPBuildID=94;ANN=T|splice_region_variant&intron_variant|LOW|PADI2|PADI2|transcript|NM_007365.2|protein_coding|10/15|c.1159-6G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2174;p3_1000G_AF=0.434105;p3_1000G_AFR_AF=0.2935;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=16209;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.5726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17405916;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1593,2813;ESP6500_AA_AGE=492.5+/-362.4;ESP6500_AA_GTC=275,1043,885;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-2.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=48;ESP6500_EA_AC=4969,3631;ESP6500_EA_AGE=621.1+/-397.1;ESP6500_EA_GTC=1420,2129,751;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17079421;ESP6500_GTC=1695,3172,1636;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1159-6G>A;ESP6500_MAF=42.2209,36.1552,49.5464;ESP6500_TAC=6562,6444	GT:AD:DP:GQ:PL	0/1:22,16:38:99:402,0,627
chr1	17079454	rs2057094	C	T	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.949;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.675;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.657;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2057094;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|10/15|c.1159-39G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2528;p3_1000G_AF=0.504792;p3_1000G_AFR_AF=0.5461;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=16696;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.5736;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17405949;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2420,1986;ESP6500_AA_AGE=588.1+/-386.8;ESP6500_AA_GTC=668,1084,451;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=28;ESP6500_EA_AC=4986,3614;ESP6500_EA_AGE=599.6+/-394.1;ESP6500_EA_GTC=1431,2124,745;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17079454;ESP6500_GTC=2099,3208,1196;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1159-39G>A;ESP6500_MAF=42.0233,45.0749,43.0571;ESP6500_TAC=7406,5600	GT:AD:DP:GQ:PL	0/1:14,10:24:99:292,0,417
chr1	17079520	rs2057093	C	T	553.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2057093;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|10/15|c.1159-105G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4574;p3_1000G_AF=0.913339;p3_1000G_AFR_AF=0.8593;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=16866;p3_1000G_EAS_AF=0.9812;p3_1000G_EUR_AF=0.8946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17406015;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:582,54,0
chr1	17079550	rs2057092	C	T	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.889;SOR=0.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2057092;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|10/15|c.1159-135G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2124;p3_1000G_AF=0.424121;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=16756;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.5726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17406045;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:126,0,260
chr1	17082522	rs2076617	G	A	347.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.601;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=2.08;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076617;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|10/15|c.1158+23C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1980;p3_1000G_AF=0.395367;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=17369;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17409017;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1184,3222;ESP6500_AA_GTC=154,876,1173;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=52;ESP6500_EA_AC=2773,5827;ESP6500_EA_GTC=455,1863,1982;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17082522;ESP6500_GTC=609,2739,3155;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.1158+23C>T;ESP6500_MAF=32.2442,26.8724,30.4244;ESP6500_TAC=3957,9049	GT:AD:DP:GQ:PL	0/1:30,18:48:99:376,0,692
chr1	17082746	rs2235925	G	A	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.057;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.262;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235925;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|9/15|c.1051-94C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2394;p3_1000G_AF=0.478035;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=19351;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.3211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17409241;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:98:98,0,177
chr1	17083869	rs1883913	G	A	287.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.128;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=5.731;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.834;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1883913;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|8/15|c.939-32C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2127;p3_1000G_AF=0.42472;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=20036;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.5726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17410364;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1429,2977;ESP6500_AA_AGE=463.6+/-353.6;ESP6500_AA_GTC=220,989,994;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=52;ESP6500_EA_AC=4970,3630;ESP6500_EA_AGE=622.1+/-397.3;ESP6500_EA_GTC=1422,2126,752;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17083869;ESP6500_GTC=1642,3115,1746;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.939-32C>T;ESP6500_MAF=42.2093,32.433,49.2004;ESP6500_TAC=6399,6607	GT:AD:DP:GQ:PL	0/1:19,13:32:99:316,0,499
chr1	17086626	rs2076615	A	C	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.774;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.836;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=-0.443;SOR=0.336;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076615;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|PADI2|PADI2|transcript|NM_007365.2|protein_coding|7/16|c.729T>G|p.Gly243Gly|811/4363|729/1998|243/665||,C|sequence_feature|LOW|PADI2|PADI2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_007365.2|protein_coding|7/16|c.729T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1821;p3_1000G_AF=0.363618;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=17379;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17413121;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1097,3309;ESP6500_AA_AGE=390.3+/-327.6;ESP6500_AA_GTC=141,815,1247;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=82;ESP6500_EA_AC=2172,6428;ESP6500_EA_AGE=367.7+/-334.8;ESP6500_EA_GTC=293,1586,2421;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:coding-synonymous;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17086626;ESP6500_GTC=434,2401,3668;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.729T>G;ESP6500_HGVS_PROTEIN_VAR=NM_007365.2:p.(G243);ESP6500_MAF=25.2558,24.8979,25.1346;ESP6500_TAC=3269,9737	GT:AD:DP:GQ:PL	0/1:29,14:43:99:318,0,756
chr1	17092388	rs2647184	A	G	1771.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.09;SOR=0.919;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2647184;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|6/15|c.655+20T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4886;p3_1000G_AF=0.975639;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18679;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17418883;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4215,191;ESP6500_AA_AGE=120.0+/-157.7;ESP6500_AA_GTC=2016,183,4;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=8137,463;ESP6500_EA_AGE=137.9+/-194.8;ESP6500_EA_GTC=3843,451,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17092388;ESP6500_GTC=5859,634,10;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.655+20T>C;ESP6500_MAF=5.3837,4.335,5.0284;ESP6500_TAC=12352,654	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,47:47:99:1|1:17092388_A_G:1800,141,0
chr1	17092399	rs2273111	A	G	533.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.158;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273111;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|6/15|c.655+9T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2440;p3_1000G_AF=0.48722;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=18436;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.6332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17418894;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2028,2378;ESP6500_AA_AGE=611.0+/-391.7;ESP6500_AA_GTC=451,1126,626;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=1.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=97;ESP6500_EA_AC=5371,3229;ESP6500_EA_AGE=486.7+/-371.9;ESP6500_EA_GTC=1689,1993,618;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17092399;ESP6500_GTC=2140,3119,1244;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.655+9T>C;ESP6500_MAF=37.5465,46.0281,43.1109;ESP6500_TAC=7399,5607	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,22:52:99:0|1:17092388_A_G:562,0,777
chr1	17092529	rs11203297	G	A	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.641;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.61;SOR=1.469;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11203297;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|PADI2|PADI2|transcript|NM_007365.2|protein_coding|6/16|c.534C>T|p.Leu178Leu|616/4363|534/1998|178/665||;p3_1000G_AA=G|||;p3_1000G_AC=1409;p3_1000G_AF=0.28135;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=19329;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17419024;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=506,3900;ESP6500_AA_AGE=233.3+/-246.5;ESP6500_AA_GTC=26,454,1723;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=60;ESP6500_EA_AC=1678,6922;ESP6500_EA_AGE=309.2+/-309.3;ESP6500_EA_GTC=160,1358,2782;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:coding-synonymous;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17092529;ESP6500_GTC=186,1812,4505;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.534C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007365.2:p.(L178);ESP6500_MAF=19.5116,11.4843,16.7922;ESP6500_TAC=2184,10822	GT:AD:DP:GQ:PL	0/1:20,19:39:99:535,0,484
chr1	17092571	rs11203298	T	C	329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.824;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.269;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.507;SOR=0.276;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11203298;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|5/15|c.530-38A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2441;p3_1000G_AF=0.48742;p3_1000G_AFR_AF=0.4274;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=19786;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.6332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17419066;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2028,2378;ESP6500_AA_AGE=611.2+/-391.7;ESP6500_AA_GTC=451,1126,626;ESP6500_CDS_SIZES=NM_007365.2:1998;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=5375,3225;ESP6500_EA_AGE=487.1+/-372.0;ESP6500_EA_GTC=1691,1993,616;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007365.2:intron;ESP6500_GL=PADI2;ESP6500_GRCh38_POSITION=1:17092571;ESP6500_GTC=2142,3119,1242;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007365.2:c.530-38A>G;ESP6500_MAF=37.5,46.0281,43.0801;ESP6500_TAC=7403,5603	GT:AD:DP:GQ:PL	0/1:13,12:25:99:358,0,418
chr1	17095807	rs2076608	T	C	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.9;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=1.07;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076608;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|4/15|c.411+102A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2820;p3_1000G_AF=0.563099;p3_1000G_AFR_AF=0.6868;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=19020;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17422302;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:185,0,393
chr1	17096115	rs2235918	A	G	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235918;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|3/15|c.350-145T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2470;p3_1000G_AF=0.493211;p3_1000G_AFR_AF=0.4387;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=19895;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17422610;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:105,0,101
chr1	17104782	rs6701159	G	T	448.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6701159;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|2/15|c.276+96C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3563;p3_1000G_AF=0.711462;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=16059;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.6869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17431277;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:477,39,0
chr1	17105123	rs11203300	A	G	278.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11203300;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PADI2|PADI2|transcript|NM_007365.2|protein_coding|1/15|c.93-62T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3489;p3_1000G_AF=0.696685;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=16449;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.7694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17431618;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:307,27,0
chr1	17223730	rs3003481	T	C	794.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3003481;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|PADI1|PADI1|transcript|NM_013358.2|protein_coding|3/15|c.346+37T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4992;p3_1000G_AF=0.996805;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19369;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17550225;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4379,27;ESP6500_AA_AGE=32.6+/-62.9;ESP6500_AA_GTC=2176,27,0;ESP6500_CDS_SIZES=NM_013358.2:1992;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=55;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013358.2:intron;ESP6500_GL=PADI1;ESP6500_GRCh38_POSITION=1:17223730;ESP6500_GTC=6474,29,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_013358.2:c.346+37T>C;ESP6500_MAF=0.0233,0.6128,0.223;ESP6500_TAC=12977,29	GT:AD:DP:GQ:PL	1/1:0,25:25:75:823,75,0
chr1	17230544	rs10888010	T	C	338.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.654;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=2.25;SOR=0.782;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888010;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PADI1|PADI1|transcript|NM_013358.2|protein_coding|9/15|c.1054-28T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2405;p3_1000G_AF=0.480232;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=17673;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17557039;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2461,1945;ESP6500_AA_AGE=534.2+/-373.9;ESP6500_AA_GTC=695,1071,437;ESP6500_CDS_SIZES=NM_013358.2:1992;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=3627,4973;ESP6500_EA_AGE=605.2+/-394.9;ESP6500_EA_GTC=783,2061,1456;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013358.2:intron;ESP6500_GL=PADI1;ESP6500_GRCh38_POSITION=1:17230544;ESP6500_GTC=1478,3132,1893;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_013358.2:c.1054-28T>C;ESP6500_MAF=42.1744,44.1443,46.8092;ESP6500_TAC=6088,6918	GT:AD:DP:GQ:PL	0/1:32,16:48:99:367,0,770
chr1	17230638	rs3003406	A	C	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.545;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.839;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3003406;dbSNPBuildID=101;ANN=C|synonymous_variant|LOW|PADI1|PADI1|transcript|NM_013358.2|protein_coding|10/16|c.1120A>C|p.Arg374Arg|1212/3847|1120/1992|374/663||;p3_1000G_AA=C|||;p3_1000G_AC=2043;p3_1000G_AF=0.407947;p3_1000G_AFR_AF=0.4024;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=17477;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17557133;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1787,2619;ESP6500_AA_AGE=636.3+/-396.5;ESP6500_AA_GTC=370,1047,786;ESP6500_CDS_SIZES=NM_013358.2:1992;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=43;ESP6500_EA_AC=3578,5022;ESP6500_EA_AGE=621.7+/-397.2;ESP6500_EA_GTC=763,2052,1485;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013358.2:coding-synonymous;ESP6500_GL=PADI1;ESP6500_GRCh38_POSITION=1:17230638;ESP6500_GTC=1133,3099,2271;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_013358.2:c.1120A>C;ESP6500_HGVS_PROTEIN_VAR=NM_013358.2:p.(R374);ESP6500_MAF=41.6047,40.5583,41.2502;ESP6500_TAC=5365,7641	GT:AD:DP:GQ:PL	0/1:20,16:36:99:422,0,554
chr1	17230683	rs2977235	C	T	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.404;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.045;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2977235;dbSNPBuildID=101;ANN=T|splice_region_variant&intron_variant|LOW|PADI1|PADI1|transcript|NM_013358.2|protein_coding|10/15|c.1161+4C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1795;p3_1000G_AF=0.358427;p3_1000G_AFR_AF=0.4077;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=17167;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17557178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1701,2705;ESP6500_AA_AGE=640.2+/-397.3;ESP6500_AA_GTC=340,1021,842;ESP6500_CDS_SIZES=NM_013358.2:1992;ESP6500_CG=-7.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=30;ESP6500_EA_AC=2590,6010;ESP6500_EA_AGE=678.3+/-403.5;ESP6500_EA_GTC=422,1746,2132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013358.2:intron;ESP6500_GL=PADI1;ESP6500_GRCh38_POSITION=1:17230683;ESP6500_GTC=762,2767,2974;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_013358.2:c.1161+4C>T;ESP6500_MAF=30.1163,38.6064,32.9925;ESP6500_TAC=4291,8715	GT:AD:DP:GQ:PL	0/1:12,9:21:99:241,0,338
chr1	17232701	rs4268393	T	C	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=0.522;SOR=0.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4268393;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|PADI1|PADI1|transcript|NM_013358.2|protein_coding|10/15|c.1162-118T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1577;p3_1000G_AF=0.314896;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=15618;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17559196;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,5:16:99:0|1:17232699_G_T:169,0,332
chr1	17237472	rs2977306	T	C	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.53;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=4.191;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.762;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2977306;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|PADI1|PADI1|transcript|NM_013358.2|protein_coding|12/15|c.1458+14T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2424;p3_1000G_AF=0.484026;p3_1000G_AFR_AF=0.5325;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=19837;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17563967;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2252,2154;ESP6500_AA_AGE=579.9+/-385.0;ESP6500_AA_GTC=588,1076,539;ESP6500_CDS_SIZES=NM_013358.2:1992;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=128;ESP6500_EA_AC=3665,4935;ESP6500_EA_AGE=619.4+/-396.9;ESP6500_EA_GTC=806,2053,1441;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013358.2:intron;ESP6500_GL=PADI1;ESP6500_GRCh38_POSITION=1:17237472;ESP6500_GTC=1394,3129,1980;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_013358.2:c.1458+14T>C;ESP6500_MAF=42.6163,48.8879,45.4944;ESP6500_TAC=5917,7089	GT:AD:DP:GQ:PL	0/1:34,17:51:99:434,0,825
chr1	17243971	rs2293921	T	C	614.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.185;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=-1.201;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293921;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PADI1|PADI1|transcript|NM_013358.2|protein_coding|15/15|c.1759-39T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2565;p3_1000G_AF=0.512181;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=18651;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17570466;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2567,1837;ESP6500_AA_AGE=514.4+/-368.6;ESP6500_AA_GTC=762,1043,397;ESP6500_CDS_SIZES=NM_013358.2:1992;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=3838,4760;ESP6500_EA_AGE=583.4+/-391.6;ESP6500_EA_GTC=895,2048,1356;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013358.2:intron;ESP6500_GL=PADI1;ESP6500_GRCh38_POSITION=1:17243971;ESP6500_GTC=1657,3091,1753;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_013358.2:c.1759-39T>C;ESP6500_MAF=44.6383,41.7121,49.2617;ESP6500_TAC=6405,6597	GT:AD:DP:GQ:PL	0/1:13,22:35:99:643,0,279
chr1	17249150	rs3763589	A	C	666.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.526;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=4.385;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.062;SOR=0.252;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3763589;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|PADI3|PADI3|transcript|NM_016233.2|protein_coding|1/16|c.13A>C|p.Arg5Arg|53/3188|13/1995|5/664||,C|downstream_gene_variant|MODIFIER|PADI1|PADI1|transcript|NM_013358.2|protein_coding||c.*4907A>C|||||3144|;p3_1000G_AA=A|||;p3_1000G_AC=581;p3_1000G_AF=0.116014;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=17311;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17575645;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=156,4250;ESP6500_AA_AGE=106.9+/-145.3;ESP6500_AA_GTC=7,142,2054;ESP6500_CDS_SIZES=NM_016233.2:1995;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=130;ESP6500_EA_AC=668,7932;ESP6500_EA_AGE=168.3+/-219.8;ESP6500_EA_GTC=22,624,3654;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016233.2:coding-synonymous;ESP6500_GL=PADI3;ESP6500_GRCh38_POSITION=1:17249150;ESP6500_GTC=29,766,5708;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_016233.2:c.13A>C;ESP6500_HGVS_PROTEIN_VAR=NM_016233.2:p.(R5);ESP6500_MAF=7.7674,3.5406,6.3355;ESP6500_TAC=824,12182	GT:AD:DP:GQ:PL	0/1:19,27:46:99:695,0,525
chr1	17259515	rs45438395	G	A	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.14;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.277;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45438395;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|PADI3|PADI3|transcript|NM_016233.2|protein_coding|1/15|c.93-63G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=606;p3_1000G_AF=0.121006;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=19255;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.0865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17586010;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,12:22:99:339,0,287
chr1	17259639	rs3750300	A	G	838.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.129;SOR=0.586;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3750300;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|PADI3|PADI3|transcript|NM_016233.2|protein_coding|2/16|c.154A>G|p.Ile52Val|194/3188|154/1995|52/664||;p3_1000G_AA=G|||;p3_1000G_AC=671;p3_1000G_AF=0.133986;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=19333;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17586134;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=367,4039;ESP6500_AA_AGE=792.7+/-415.2;ESP6500_AA_GTC=20,327,1856;ESP6500_CDS_SIZES=NM_016233.2:1995;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=84;ESP6500_EA_AC=790,7810;ESP6500_EA_AGE=783.5+/-407.6;ESP6500_EA_GTC=36,718,3546;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016233.2:missense;ESP6500_GL=PADI3;ESP6500_GRCh38_POSITION=1:17259639;ESP6500_GS=29;ESP6500_GTC=56,1045,5402;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016233.2:c.154A>G;ESP6500_HGVS_PROTEIN_VAR=NM_016233.2:p.(I52V);ESP6500_MAF=9.186,8.3296,8.8959;ESP6500_PH=benign:0.0;ESP6500_TAC=1157,11849	GT:AD:DP:GQ:PL	0/1:40,35:75:99:867,0,1004
chr1	17266649	rs2272628	C	G	468.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.98;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.106;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.078;SOR=0.262;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272628;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PADI3|PADI3|transcript|NM_016233.2|protein_coding|4/15|c.409-70C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2643;p3_1000G_AF=0.527756;p3_1000G_AFR_AF=0.6339;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=21273;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.4583;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17593144;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,16:37:99:497,0,660
chr1	17266821	rs2272629	G	A	616.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.251;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=1.097;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.362;SOR=0.478;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272629;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|PADI3|PADI3|transcript|NM_016233.2|protein_coding|5/16|c.511G>A|p.Val171Met|551/3188|511/1995|171/664||;p3_1000G_AA=G|||;p3_1000G_AC=600;p3_1000G_AF=0.119808;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=20775;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17593316;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=147,4259;ESP6500_AA_AGE=102.5+/-141.1;ESP6500_AA_GTC=6,135,2062;ESP6500_CDS_SIZES=NM_016233.2:1995;ESP6500_CG=3.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=138;ESP6500_EA_AC=688,7912;ESP6500_EA_AGE=171.2+/-222.1;ESP6500_EA_GTC=22,644,3634;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016233.2:missense;ESP6500_GL=PADI3;ESP6500_GRCh38_POSITION=1:17266821;ESP6500_GS=21;ESP6500_GTC=28,779,5696;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016233.2:c.511G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016233.2:p.(V171M);ESP6500_MAF=8.0,3.3364,6.4201;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=835,12171	GT:AD:DP:GQ:PL	0/1:31,26:57:99:645,0,898
chr1	17271226	rs4595409	A	G	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.79;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.58;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4595409;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|PADI3|PADI3|transcript|NM_016233.2|protein_coding|9/15|c.1047+48A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1478;p3_1000G_AF=0.295128;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=19125;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.2684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17597721;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1623,2775;ESP6500_AA_GTC=328,967,904;ESP6500_CDS_SIZES=NM_016233.2:1995;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=15;ESP6500_EA_AC=2190,6404;ESP6500_EA_GTC=290,1610,2397;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016233.2:intron;ESP6500_GL=PADI3;ESP6500_GRCh38_POSITION=1:17271226;ESP6500_GTC=618,2577,3301;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016233.2:c.1047+48A>G;ESP6500_MAF=25.4829,36.9031,29.3488;ESP6500_TAC=3813,9179	GT:AD:DP:GQ:PL	0/1:10,9:19:99:299,0,333
chr1	17274588	rs2293917	C	T	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.7;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.988;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293917;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|MIR3972|MIR3972|transcript|NR_039768.1|pseudogene||n.-3301C>T|||||3301|,T|intron_variant|MODIFIER|PADI3|PADI3|transcript|NM_016233.2|protein_coding|10/15|c.1156-47C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.5817;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=17671;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.3877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17601083;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2349,2057;ESP6500_AA_AGE=567.5+/-382.2;ESP6500_AA_GTC=623,1103,477;ESP6500_CDS_SIZES=NM_016233.2:1995;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=3248,5352;ESP6500_EA_AGE=646.9+/-400.3;ESP6500_EA_GTC=643,1962,1695;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016233.2:intron;ESP6500_GL=PADI3;ESP6500_GRCh38_POSITION=1:17274588;ESP6500_GTC=1266,3065,2172;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016233.2:c.1156-47C>T;ESP6500_MAF=37.7674,46.6863,43.034;ESP6500_TAC=5597,7409	GT:AD:DP:GQ:PL	0/1:12,15:27:99:452,0,337
chr1	17280573	rs2272630	T	C	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.51;ReadPosRankSum=0.648;SOR=1.134;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272630;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|MIR3972|MIR3972|transcript|NR_039768.1|pseudogene||n.*2598T>C|||||2598|,C|intron_variant|MODIFIER|PADI3|PADI3|transcript|NM_016233.2|protein_coding|14/15|c.1636-98T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1871;p3_1000G_AF=0.373602;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.3415;p3_1000G_AN=5008;p3_1000G_DP=18865;p3_1000G_EAS_AF=0.256;p3_1000G_EUR_AF=0.3857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17607068;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,16:23:99:592,0,185
chr1	17282953	rs2293920	G	T	715.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.463;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-2.418;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293920;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|PADI3|PADI3|transcript|NM_016233.2|protein_coding|16/16|c.1869G>T|p.Pro623Pro|1909/3188|1869/1995|623/664||,T|downstream_gene_variant|MODIFIER|MIR3972|MIR3972|transcript|NR_039768.1|pseudogene||n.*4978G>T|||||4978|;p3_1000G_AA=G|||;p3_1000G_AC=2028;p3_1000G_AF=0.404952;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=20108;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17609448;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1019,3387;ESP6500_AA_AGE=376.6+/-322.1;ESP6500_AA_GTC=112,795,1296;ESP6500_CDS_SIZES=NM_016233.2:1995;ESP6500_CG=-1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=81;ESP6500_EA_AC=3806,4794;ESP6500_EA_AGE=537.9+/-383.3;ESP6500_EA_GTC=855,2096,1349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016233.2:coding-synonymous;ESP6500_GL=PADI3;ESP6500_GRCh38_POSITION=1:17282953;ESP6500_GTC=967,2891,2645;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_016233.2:c.1869G>T;ESP6500_HGVS_PROTEIN_VAR=NM_016233.2:p.(P623);ESP6500_MAF=44.2558,23.1276,37.0983;ESP6500_TAC=4825,8181	GT:AD:DP:GQ:PL	0/1:26,29:55:99:744,0,628
chr1	17328912	rs1748041	C	T	59.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1748041;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|1/15|c.93-2057C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3101;p3_1000G_AF=0.619209;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=10358;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.6879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17655407;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:87,9,0
chr1	17331039	rs11203366	G	A	1686.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=1.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11203366;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|PADI4|PADI4|transcript|NM_012387.2|protein_coding|2/16|c.163G>A|p.Gly55Ser|191/2265|163/1992|55/663||;p3_1000G_AA=g|||;p3_1000G_AC=2627;p3_1000G_AF=0.524561;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=19625;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.5755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17657534;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2135,2271;ESP6500_AA_AGE=579.1+/-384.8;ESP6500_AA_GTC=505,1125,573;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=68;ESP6500_EA_AC=4958,3642;ESP6500_EA_AGE=624.1+/-397.5;ESP6500_EA_GTC=1420,2118,762;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012387.2:missense;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17331039;ESP6500_GS=56;ESP6500_GTC=1925,3243,1335;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.163G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012387.2:p.(G55S);ESP6500_MAF=42.3488,48.4567,45.4636;ESP6500_PH=benign:0.0;ESP6500_TAC=7093,5913	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1715,171,0
chr1	17331121	rs11203367	T	C	1670.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11203367;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|PADI4|PADI4|transcript|NM_012387.2|protein_coding|2/16|c.245T>C|p.Val82Ala|273/2265|245/1992|82/663||;p3_1000G_AA=C|||;p3_1000G_AC=2671;p3_1000G_AF=0.533347;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=20194;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.5726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17657616;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2242,2164;ESP6500_AA_GTC=562,1118,523;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=57;ESP6500_EA_AC=4957,3643;ESP6500_EA_GTC=1420,2117,763;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012387.2:missense;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17331121;ESP6500_GS=64;ESP6500_GTC=1982,3235,1286;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.245T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012387.2:p.(V82A);ESP6500_MAF=42.3605,49.1148,44.6486;ESP6500_PH=benign:0.0;ESP6500_TAC=7199,5807	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1699,150,0
chr1	17331491	rs35809798	A	G	640.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.72;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35809798;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|2/15|c.273+342A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2666;p3_1000G_AF=0.532348;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=18796;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.5726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17657986;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:669,57,0
chr1	17331629	rs550559362;rs67879101;rs749319047;rs780129732	GTGGCC	G	1178.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67879101;dbSNPBuildID=132,144,144,142;ANN=G|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|2/15|c.273+486_273+490delTGGCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2665;p3_1000G_AF=0.532149;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=16487;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.5726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17658124;p3_1000G_GRCH37_REF=GTGGCC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,26:26:85:1216,85,0
chr1	17334004	rs874881	G	C	1362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs874881;dbSNPBuildID=86;ANN=C|structural_interaction_variant|HIGH|PADI4|PADI4|interaction|3APM:A_80-A_112:NM_012387.2|protein_coding|3/16|c.335G>C||||||,C|structural_interaction_variant|HIGH|PADI4|PADI4|interaction|3APM:A_84-A_112:NM_012387.2|protein_coding|3/16|c.335G>C||||||,C|missense_variant|MODERATE|PADI4|PADI4|transcript|NM_012387.2|protein_coding|3/16|c.335G>C|p.Gly112Ala|363/2265|335/1992|112/663||;p3_1000G_AA=G|||;p3_1000G_AC=2614;p3_1000G_AF=0.521965;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=17445;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.5537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17660499;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2143,2263;ESP6500_AA_AGE=580.0+/-385.0;ESP6500_AA_GTC=511,1121,571;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=81;ESP6500_EA_AC=4738,3862;ESP6500_EA_AGE=609.5+/-395.5;ESP6500_EA_GTC=1295,2148,857;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012387.2:missense;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17334004;ESP6500_GS=60;ESP6500_GTC=1806,3269,1428;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.335G>C;ESP6500_HGVS_PROTEIN_VAR=NM_012387.2:p.(G112A);ESP6500_MAF=44.907,48.6382,47.0936;ESP6500_PH=possibly-damaging:0.639;ESP6500_TAC=6881,6125	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1391,120,0
chr1	17334165	rs874882	G	A	1041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs874882;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|3/15|c.340+156G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2628;p3_1000G_AF=0.52476;p3_1000G_AFR_AF=0.4516;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=18833;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.5726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17660660;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1070,99,0
chr1	17334202	rs1548323	T	C	1229.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1548323;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|3/15|c.340+193T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2646;p3_1000G_AF=0.528355;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=19492;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.5726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17660697;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1258,108,0
chr1	17334307	rs34965359	A	ATT	840.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.63;SOR=0.997;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34965359,rs66539066;dbSNPBuildID=126;ANN=ATT|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|3/15|c.340+310_340+311dupTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2929;p3_1000G_AF=0.584864;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18874;p3_1000G_EAS_AF=0.6091;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17660802;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,24:24:75:858,75,0
chr1	17334395	rs12737739	C	A	505.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12737739;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|3/15|c.340+386C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1809;p3_1000G_AF=0.361222;p3_1000G_AFR_AF=0.1195;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=16866;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17660890;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:534,51,0
chr1	17336046	rs1748034	A	C	619.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=5.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1748034;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|3/15|c.341-113A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3057;p3_1000G_AF=0.610423;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=16515;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17662541;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:648,48,0
chr1	17336144	rs2240340	T	C	2087.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2240340;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|3/15|c.341-15T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2580;p3_1000G_AF=0.515176;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=15598;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.5716;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17662639;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2063,2343;ESP6500_AA_AGE=566.4+/-381.9;ESP6500_AA_GTC=476,1111,616;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=56;ESP6500_EA_AC=4957,3643;ESP6500_EA_AGE=620.6+/-397.1;ESP6500_EA_GTC=1420,2117,763;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012387.2:intron;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17336144;ESP6500_GTC=1896,3228,1379;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.341-15T>C;ESP6500_MAF=42.3605,46.8225,46.0249;ESP6500_TAC=7020,5986	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2116,189,0
chr1	17336167	rs1748033	T	C	2517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.522;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1748033;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|PADI4|PADI4|transcript|NM_012387.2|protein_coding|4/16|c.349T>C|p.Leu117Leu|377/2265|349/1992|117/663||;p3_1000G_AA=C|||;p3_1000G_AC=2964;p3_1000G_AF=0.591853;p3_1000G_AFR_AF=0.5401;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=15912;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.661;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17662662;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2561,1845;ESP6500_AA_GTC=735,1091,377;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=67;ESP6500_EA_AC=5714,2886;ESP6500_EA_GTC=1890,1934,476;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012387.2:coding-synonymous;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17336167;ESP6500_GTC=2625,3025,853;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.349T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012387.2:p.(L117);ESP6500_MAF=33.5581,41.8747,36.3755;ESP6500_TAC=8275,4731	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2546,237,0
chr1	17336256	rs1621005	C	G	2832.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.82;SOR=1.167;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1621005;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|4/15|c.408+30C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3027;p3_1000G_AF=0.604433;p3_1000G_AFR_AF=0.5847;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=16810;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17662751;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2671,1735;ESP6500_AA_GTC=799,1073,331;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=44;ESP6500_EA_AC=5715,2885;ESP6500_EA_GTC=1889,1937,474;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012387.2:intron;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17336256;ESP6500_GTC=2688,3010,805;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.408+30C>G;ESP6500_MAF=33.5465,39.3781,35.5221;ESP6500_TAC=8386,4620	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2861,285,0
chr1	17336309	rs1748032	C	T	2349.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1748032;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|4/15|c.408+83C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3023;p3_1000G_AF=0.603634;p3_1000G_AFR_AF=0.6014;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=18175;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.6421;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17662804;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2378,225,0
chr1	17338275	rs1635586	A	G	440.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.67;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1635586;dbSNPBuildID=89;ANN=G|sequence_feature|LOW|PADI4|PADI4|metal-binding-site:Calcium_1|NM_012387.2|protein_coding|5/15|c.526+120A>G||||||,G|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|5/15|c.526+120A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3014;p3_1000G_AF=0.601837;p3_1000G_AFR_AF=0.5794;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=17633;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17664770;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:469,33,0
chr1	17339600	rs1635578	T	C	525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1635578;dbSNPBuildID=89;ANN=C|sequence_feature|LOW|PADI4|PADI4|metal-binding-site:Calcium_1|NM_012387.2|protein_coding|5/15|c.527-88T>C||||||,C|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|5/15|c.527-88T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2986;p3_1000G_AF=0.596246;p3_1000G_AFR_AF=0.5635;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=20742;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.6531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17666095;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:554,39,0
chr1	17346235	rs2301888	G	A	209.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.97;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2301888;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|9/15|c.1047+96G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1818;p3_1000G_AF=0.363019;p3_1000G_AFR_AF=0.1354;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=18167;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.3608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17672730;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:238,18,0
chr1	17347907	rs2240336	C	T	680.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2240336;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|9/15|c.1048-34C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2501;p3_1000G_AF=0.499401;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=14929;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.4145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17674402;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA_AC=2175,2231;ESP6500_AA_GTC=504,1167,532;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=59;ESP6500_EA_AC=3588,5012;ESP6500_EA_GTC=739,2110,1451;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012387.2:intron;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17347907;ESP6500_GTC=1243,3277,1983;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.1048-34C>T;ESP6500_MAF=41.7209,49.3645,44.3103;ESP6500_TAC=5763,7243	GT:AD:DP:GQ:PL	1/1:0,23:23:69:709,69,0
chr1	17347982	rs17852287	G	A	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.457;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=6.235;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.121;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17852287;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|PADI4|PADI4|transcript|NM_012387.2|protein_coding|10/16|c.1089G>A|p.Thr363Thr|1117/2265|1089/1992|363/663||;p3_1000G_AA=g|||;p3_1000G_AC=10;p3_1000G_AF=0.00199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15257;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17674477;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,23:46:99:528,0,520
chr1	17348042	rs2240335	C	A	1269.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2240335;dbSNPBuildID=98;ANN=A|structural_interaction_variant|HIGH|PADI4|PADI4|interaction|1WDA:A_341-A_383:NM_012387.2|protein_coding|10/16|c.1149C>A||||||,A|structural_interaction_variant|HIGH|PADI4|PADI4|interaction|2DEX:X_341-X_383:NM_012387.2|protein_coding|10/16|c.1149C>A||||||,A|structural_interaction_variant|HIGH|PADI4|PADI4|interaction|2DEY:X_341-X_383:NM_012387.2|protein_coding|10/16|c.1149C>A||||||,A|structural_interaction_variant|HIGH|PADI4|PADI4|interaction|4DKT:A_341-A_383:NM_012387.2|protein_coding|10/16|c.1149C>A||||||,A|synonymous_variant|LOW|PADI4|PADI4|transcript|NM_012387.2|protein_coding|10/16|c.1149C>A|p.Arg383Arg|1177/2265|1149/1992|383/663||,A|sequence_feature|LOW|PADI4|PADI4|modified-residue:Citrulline|NM_012387.2|protein_coding|10/16|c.1149C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2110;p3_1000G_AF=0.421326;p3_1000G_AFR_AF=0.3517;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=16071;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.3469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17674537;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP;ESP6500_AA_AC=1635,2771;ESP6500_AA_GTC=297,1041,865;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21452313,21505073;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=74;ESP6500_EA_AC=3026,5574;ESP6500_EA_GTC=524,1978,1798;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012387.2:coding-synonymous;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17348042;ESP6500_GTC=821,3019,2663;ESP6500_GTS=AA,AC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21452313,21505073;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.1149C>A;ESP6500_HGVS_PROTEIN_VAR=NM_012387.2:p.(R383);ESP6500_MAF=35.186,37.1085,35.8373;ESP6500_TAC=4661,8345	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1298,120,0
chr1	17356546	rs1635567	T	C	539.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1635567;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|13/15|c.1558+87T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3771;p3_1000G_AF=0.752995;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=20110;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.7276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17683041;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:568,42,0
chr1	17358971	rs34481461	C	A	547.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34481461;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|14/15|c.1629+63C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=744;p3_1000G_AF=0.148562;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=12620;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17685466;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=94,1290;ESP6500_AA_GTC=2,90,600;ESP6500_CDS_SIZES=NM_012387.2:1992;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=56;ESP6500_EA_AC=588,2594;ESP6500_EA_GTC=66,456,1069;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012387.2:intron;ESP6500_GL=PADI4;ESP6500_GRCh38_POSITION=1:17358971;ESP6500_GTC=68,546,1669;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_012387.2:c.1629+63C>A;ESP6500_MAF=18.4789,6.7919,14.9365;ESP6500_TAC=682,3884	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:17358971_C_A:576,54,0
chr1	17363459	rs2477150	C	T	761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.33;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2477150;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PADI4|PADI4|transcript|NM_012387.2|protein_coding|15/15|c.1759-63C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1104;p3_1000G_AF=0.220447;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=16949;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.2018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17689954;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:790,63,0
chr1	17372230	rs1204873	C	T	1128.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1204873;dbSNPBuildID=87;ANN=T|5_prime_UTR_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|1/16|c.-16C>T|||||16|;p3_1000G_AA=C|||;p3_1000G_AC=1309;p3_1000G_AF=0.261382;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=15785;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.1948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17698725;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1453,2929;ESP6500_AA_GTC=249,955,987;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=93;ESP6500_EA_AC=1856,6712;ESP6500_EA_GTC=218,1420,2646;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:17372230;ESP6500_GTC=467,2375,3633;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=21.662,33.1584,25.5521;ESP6500_TAC=3309,9641	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1157,111,0
chr1	17372396	rs6700319	C	T	1036.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.62;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6700319;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|1/15|c.116+35C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=989;p3_1000G_AF=0.197484;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=18071;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.1571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17698891;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=801,3293;ESP6500_AA_GTC=69,663,1315;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=89;ESP6500_EA_AC=1479,6957;ESP6500_EA_GTC=141,1197,2880;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:intron;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17372396;ESP6500_GTC=210,1860,4195;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.116+35C>T;ESP6500_MAF=17.532,19.5652,18.1963;ESP6500_TAC=2280,10250	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1065,105,0
chr1	17372466	rs1204872	T	C	273.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1204872;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|1/15|c.116+105T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1310;p3_1000G_AF=0.261581;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=16765;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.1948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17698961;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:302,24,0
chr1	17372968	rs1204869	C	T	733.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.94;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1204869;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|1/15|c.117-88C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1315;p3_1000G_AF=0.26258;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=16497;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.1948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17699463;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:762,63,0
chr1	17373014	rs2308230;rs3035576;~rs71720586	G	GGTGA	1698.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.36;SOR=4.351;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs2308230,rs3035576;dbSNPBuildID=100,102;ANN=GGTGA|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|1/15|c.117-39_117-38insAGTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1312;p3_1000G_AF=0.261981;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=17800;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.1948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17699509;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=INDEL;ESP6500_AA_AC=1299,2649;ESP6500_AA_GTC=248,803,923;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=32;ESP6500_EA_AC=1715,6277;ESP6500_EA_GTC=205,1305,2486;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:intron;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17373014;ESP6500_GTC=453,2108,3409;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.117-42_117-41insGTGA;ESP6500_MAF=21.459,32.9027,25.2429;ESP6500_TAC=3014,8926	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1736,117,0
chr1	17381106	rs6669650	T	C	1054.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6669650;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|PADI6|PADI6|transcript|NM_207421.4|protein_coding|5/16|c.495T>C|p.Pro165Pro|545/2396|495/2085|165/694||;p3_1000G_AA=T|||;p3_1000G_AC=812;p3_1000G_AF=0.162141;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=19632;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.1292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17707601;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=361,3521;ESP6500_AA_GTC=13,335,1593;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=78;ESP6500_EA_AC=1351,6935;ESP6500_EA_GTC=132,1087,2924;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:coding-synonymous;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17381106;ESP6500_GTC=145,1422,4517;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.495T>C;ESP6500_HGVS_PROTEIN_VAR=NM_207421.3:p.(P165);ESP6500_MAF=16.3046,9.2993,14.0697;ESP6500_TAC=1712,10456	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1083,105,0
chr1	17381244	rs1204898	T	C	399.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1204898;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|5/15|c.553+80T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3607;p3_1000G_AF=0.720248;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=17406;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17707739;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:428,30,0
chr1	17381262	rs6664321	C	T	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.55;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6664321;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|5/15|c.553+98C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1156;p3_1000G_AF=0.230831;p3_1000G_AFR_AF=0.3154;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=17099;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.1332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17707757;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:17381262_C_T:495,33,0
chr1	17381263	rs6703392	G	C	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6703392;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|5/15|c.553+99G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1277;p3_1000G_AF=0.254992;p3_1000G_AFR_AF=0.4039;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=17002;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.1332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17707758;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:17381262_C_T:495,33,0
chr1	17381303	rs10788668	C	T	91.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10788668;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|5/15|c.553+139C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3315;p3_1000G_AF=0.661941;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=17737;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.7038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17707798;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:119,9,0
chr1	17388369	rs6696295	T	C	1520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6696295;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|6/15|c.680-12T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1166;p3_1000G_AF=0.232827;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=17854;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.2028;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17714864;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=555,3217;ESP6500_AA_GTC=37,481,1368;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=2005,6225;ESP6500_EA_GTC=238,1529,2348;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:intron;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17388369;ESP6500_GTC=275,2010,3716;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.680-12T>C;ESP6500_MAF=24.3621,14.7137,21.3298;ESP6500_TAC=2560,9442	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1549,141,0
chr1	17388586	rs2526842	C	T	1471.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2526842;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|7/15|c.858+27C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1608;p3_1000G_AF=0.321086;p3_1000G_AFR_AF=0.3979;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=18628;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.2416;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17715081;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1282,2498;ESP6500_AA_GTC=199,884,807;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=22;ESP6500_EA_AC=2367,5857;ESP6500_EA_GTC=317,1733,2062;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:intron;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17388586;ESP6500_GTC=516,2617,2869;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.858+27C>T;ESP6500_MAF=28.7816,33.9153,30.3982;ESP6500_TAC=3649,8355	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1500,141,0
chr1	17388640	rs2526841	T	C	927.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2526841;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|7/15|c.858+81T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1608;p3_1000G_AF=0.321086;p3_1000G_AFR_AF=0.3979;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=17864;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.2416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17715135;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:956,84,0
chr1	17388980	rs2800688	T	C	268.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.3;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2800688;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|8/15|c.962+100T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1612;p3_1000G_AF=0.321885;p3_1000G_AFR_AF=0.4009;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=18866;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.2416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17715475;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:297,21,0
chr1	17392254	rs12737852	C	T	930.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12737852;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|9/15|c.1074+29C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1376;p3_1000G_AF=0.27476;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=19119;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.2416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17718750;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=744,2786;ESP6500_AA_GTC=73,598,1094;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=18;ESP6500_EA_AC=2036,5750;ESP6500_EA_GTC=259,1518,2116;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:intron;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17392254;ESP6500_GTC=332,2116,3210;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.1075+29C>T;ESP6500_MAF=26.1495,21.0765,24.567;ESP6500_TAC=2780,8536	GT:AD:DP:GQ:PL	1/1:0,32:32:95:959,95,0
chr1	17393943	rs6695849	T	C	2993.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6695849;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|9/15|c.1075-32T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2859;p3_1000G_AF=0.570887;p3_1000G_AFR_AF=0.4864;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=20274;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.6133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17720439;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2171,1889;ESP6500_AA_GTC=604,963,463;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=72;ESP6500_EA_AC=5420,2952;ESP6500_EA_GTC=1745,1930,511;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:intron;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17393943;ESP6500_GTC=2349,2893,974;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.1076-32T>C;ESP6500_MAF=35.2604,46.5271,38.9398;ESP6500_TAC=7591,4841	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3022,288,0
chr1	17394119	rs10458537	A	C	2464.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.23;SOR=2.115;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10458537;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|10/15|c.1182+37A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2865;p3_1000G_AF=0.572085;p3_1000G_AFR_AF=0.4864;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=18110;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17720615;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2075,1791;ESP6500_AA_GTC=574,927,432;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=67;ESP6500_EA_AC=5368,2880;ESP6500_EA_GTC=1741,1886,497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:intron;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17394119;ESP6500_GTC=2315,2813,929;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.1183+37A>C;ESP6500_MAF=34.9176,46.327,38.5587;ESP6500_TAC=7443,4671	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2493,216,0
chr1	17394190	rs34075690	AG	A	757.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=1.893;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34075690;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|10/15|c.1183-104delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|GGGGGG|GGGGG|unsure;p3_1000G_AC=2948;p3_1000G_AF=0.588658;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=18076;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17720686;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,25:25:75:795,75,0
chr1	17394892	rs6691485	C	T	372.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6691485;dbSNPBuildID=116;ANN=T|sequence_feature|MODERATE|PADI6|PADI6|modified-residue:Phosphoserine|NM_207421.4|protein_coding|11/15|c.1338-59C>T||||||,T|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|11/15|c.1338-59C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2861;p3_1000G_AF=0.571286;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=16786;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.6153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17721388;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:401,33,0
chr1	17395199	rs35197313;rs761085609;rs879027147	GT	G	357.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=3.056;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs76433458,rs35197313;dbSNPBuildID=130,147,144;ANN=G|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|12/15|c.1494+107delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:17395199_GT_G:395,27,0
chr1	17395211	rs12239645	T	G	403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12239645;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|12/15|c.1494+104T>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=1596;p3_1000G_AF=0.31869;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=17616;p3_1000G_EAS_AF=0.4087;p3_1000G_EUR_AF=0.2396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17721707;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:17395199_GT_G:432,30,0
chr1	17398862	rs2244936;rs57383037	C	G	1587.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=3.458;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.13;ReadPosRankSum=-0.532;SOR=0.61;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs376108694,rs2244936;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PADI6|PADI6|transcript|NM_207421.4|protein_coding|15/15|c.1851+15C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3129;p3_1000G_AF=0.6248;p3_1000G_AFR_AF=0.6755;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=12734;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.6123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17725358;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2864,1330;ESP6500_AA_GTC=1005,854,238;ESP6500_CDS_SIZES=NM_207421.3:2086;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=64;ESP6500_EA_AC=5459,2941;ESP6500_EA_GTC=1768,1923,509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207421.3:intron;ESP6500_GL=PADI6;ESP6500_GRCh38_POSITION=1:17398862;ESP6500_GTC=2773,2777,747;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_207421.3:c.1852+15C>G;ESP6500_MAF=35.0119,31.712,33.913;ESP6500_TAC=8323,4271	GT:AD:DP:GQ:PL	1/1:1,50:51:99:1616,143,0
chr1	17410082	rs2762890	A	G	2581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.488;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2762890;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RCC2|RCC2|transcript|NM_001136204.2|protein_coding|10/11|c.1387-31T>C||||||,G|intron_variant|MODIFIER|RCC2|RCC2|transcript|NM_018715.3|protein_coding|11/12|c.1387-31T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3194;p3_1000G_AF=0.63778;p3_1000G_AFR_AF=0.6929;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=20236;p3_1000G_EAS_AF=0.5476;p3_1000G_EUR_AF=0.6093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17736578;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3079,1327;ESP6500_AA_AGE=441.8+/-346.5;ESP6500_AA_GTC=1088,903,212;ESP6500_CDS_SIZES=NM_018715.3:1569,NM_001136204.2:1569;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=66;ESP6500_EA_AC=5495,3105;ESP6500_EA_AGE=469.4+/-367.6;ESP6500_EA_GTC=1754,1987,559;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018715.3:intron,NM_001136204.2:intron;ESP6500_GL=RCC2;ESP6500_GRCh38_POSITION=1:17410082;ESP6500_GTC=2842,2890,771;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018715.3:c.1387-31T>C,NM_001136204.2:c.1387-31T>C;ESP6500_MAF=36.1047,30.118,34.0766;ESP6500_TAC=8574,4432	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2610,225,0
chr1	17412074	rs397979380;rs71014950	AC	A	1996.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=1.453;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71014950;dbSNPBuildID=132,138;ANN=A|intron_variant|MODIFIER|RCC2|RCC2|transcript|NM_001136204.2|protein_coding|10/11|c.1386+47delG||||||,A|intron_variant|MODIFIER|RCC2|RCC2|transcript|NM_018715.3|protein_coding|11/12|c.1386+47delG||||||;p3_1000G_AA=CCC|CCC|CC|deletion;p3_1000G_AC=1226;p3_1000G_AF=0.244808;p3_1000G_AFR_AF=0.1195;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=18741;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.2376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17738570;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=INDEL;ESP6500_AA_AC=613,3653;ESP6500_AA_GTC=44,525,1564;ESP6500_CDS_SIZES=NM_018715.3:1569,NM_001136204.2:1569;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=48;ESP6500_EA_AC=2387,5867;ESP6500_EA_GTC=327,1733,2067;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018715.3:intron,NM_001136204.2:intron;ESP6500_GL=RCC2;ESP6500_GRCh38_POSITION=1:17412074;ESP6500_GTC=371,2258,3631;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018715.3:c.1386+47del1,NM_001136204.2:c.1386+47del1;ESP6500_MAF=28.9193,14.3694,23.9617;ESP6500_TAC=3000,9520	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2034,172,0
chr1	17413324	rs1075535	T	C	785.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1075535;dbSNPBuildID=86;ANN=C|sequence_feature|LOW|RCC2|RCC2|repeat:RCC1_6|NM_018715.3|protein_coding|9/12|c.1208-146A>G||||||,C|intron_variant|MODIFIER|RCC2|RCC2|transcript|NM_001136204.2|protein_coding|8/11|c.1208-146A>G||||||,C|intron_variant|MODIFIER|RCC2|RCC2|transcript|NM_018715.3|protein_coding|9/12|c.1208-146A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3196;p3_1000G_AF=0.638179;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=18590;p3_1000G_EAS_AF=0.5476;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17739820;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:814,63,0
chr1	17422963	rs5772758;rs5772759	C	CCAA	817.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=2.419;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5772758,rs5772759;dbSNPBuildID=131,138;ANN=CCAA|intron_variant|MODIFIER|RCC2|RCC2|transcript|NM_001136204.2|protein_coding|3/11|c.524-130_524-128dupTTG||||||,CCAA|intron_variant|MODIFIER|RCC2|RCC2|transcript|NM_018715.3|protein_coding|4/12|c.524-130_524-128dupTTG||||||	GT:AD:DP:GQ:PL	1/1:0,19:19:57:855,57,0
chr1	17603485	rs1193338	C	G	787.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.605;SOR=0.559;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1193338;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|5/28|c.350-23C>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|5/29|n.509-23C>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|5/28|n.509-23C>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|4/26|c.350-23C>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|4/25|c.350-23C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2310;p3_1000G_AF=0.461262;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=10773;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.5268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17929980;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1636,2770;ESP6500_AA_AGE=493.8+/-362.8;ESP6500_AA_GTC=299,1038,866;ESP6500_CDS_SIZES=NM_018125.3:3840,NM_001011722.2:3723;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=79;ESP6500_EA_AC=4350,4250;ESP6500_EA_AGE=571.4+/-389.5;ESP6500_EA_GTC=1091,2168,1041;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018125.3:intron,NM_001011722.2:intron;ESP6500_GL=ARHGEF10L;ESP6500_GRCh38_POSITION=1:17603485;ESP6500_GTC=1390,3206,1907;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_018125.3:c.350-23C>G,NM_001011722.2:c.350-23C>G;ESP6500_MAF=49.4186,37.1312,46.0249;ESP6500_TAC=5986,7020	GT:AD:DP:GQ:PL	0/1:42,34:76:99:816,0,991
chr1	17616254	.	C	G	60.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.282;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=7.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=2.06;SOR=3.241;SNP;HET;VARTYPE=SNP;ANN=G|upstream_gene_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding||c.-2100C>G|||||2059|,G|upstream_gene_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding||c.-2100C>G|||||2059|,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|9/28|c.835+52C>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|9/29|n.997+52C>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|8/28|n.877+52C>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|7/26|c.718+52C>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|7/25|c.718+52C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:89:0|1:17616246_C_G:89,0,89
chr1	17616259	.	A	T	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.697;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=8.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=1.47;SOR=3.236;SNP;HET;VARTYPE=SNP;ANN=T|upstream_gene_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding||c.-2095A>T|||||2054|,T|upstream_gene_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding||c.-2095A>T|||||2054|,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|9/28|c.835+57A>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|9/29|n.997+57A>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|8/28|n.877+57A>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|7/26|c.718+57A>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|7/25|c.718+57A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:49:0|1:17616246_C_G:95,0,49
chr1	17691027	rs871087	T	C	182.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs871087;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|27/28|c.3184+3280T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|28/29|n.4090+3280T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|27/28|n.3970+3280T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|25/26|c.3067+3280T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|24/25|c.3052+3280T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding|19/20|c.2518+3280T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding|16/17|c.2293+3280T>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=4413;p3_1000G_AF=0.88119;p3_1000G_AFR_AF=0.8714;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=15975;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.828;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18017522;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:211,18,0
chr1	17691063	rs871088	A	G	194.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.83;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs871088;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|27/28|c.3184+3316A>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|28/29|n.4090+3316A>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|27/28|n.3970+3316A>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|25/26|c.3067+3316A>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|24/25|c.3052+3316A>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding|19/20|c.2518+3316A>G||||||,G|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding|16/17|c.2293+3316A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=4411;p3_1000G_AF=0.880791;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=15481;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.828;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18017558;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:223,21,0
chr1	17691209	rs871089	C	T	265.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.58;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs871089;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|27/28|c.3184+3462C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|28/29|n.4090+3462C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|27/28|n.3970+3462C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|25/26|c.3067+3462C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|24/25|c.3052+3462C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding|19/20|c.2518+3462C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding|16/17|c.2293+3462C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=4409;p3_1000G_AF=0.880391;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=16411;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.828;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18017704;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:294,30,0
chr1	17695372	rs2279816	T	C	520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2279816;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|28/28|c.3307+92T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|29/29|n.4213+92T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|28/28|n.4093+92T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|26/26|c.3190+92T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|25/25|c.3175+92T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding|20/20|c.2641+92T>C||||||,C|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding|17/17|c.2416+92T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4128;p3_1000G_AF=0.824281;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=15577;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.8161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18021867;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:549,51,0
chr1	17696795	rs2270979	C	T	567.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.88;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270979;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|28/28|c.3308-53C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|29/29|n.4214-53C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|28/28|n.4094-53C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|26/26|c.3191-53C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|25/25|c.3176-53C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding|20/20|c.2642-53C>T||||||,T|intron_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding|17/17|c.2417-53C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3935;p3_1000G_AF=0.785743;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=16892;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.8171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18023290;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:596,57,0
chr1	17696870	rs2270978	C	T	1088.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270978;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|29/29|c.3330C>T|p.Asn1110Asn|3489/4494|3330/3840|1110/1279||,T|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|27/27|c.3213C>T|p.Asn1071Asn|3256/4261|3213/3723|1071/1240||,T|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|26/26|c.3198C>T|p.Asn1066Asn|3241/4246|3198/3708|1066/1235||,T|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding|21/21|c.2664C>T|p.Asn888Asn|2705/3704|2664/3174|888/1057||,T|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding|18/18|c.2439C>T|p.Asn813Asn|2480/3485|2439/2949|813/982||,T|non_coding_transcript_exon_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|30/30|n.4236C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|29/29|n.4116C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=3930;p3_1000G_AF=0.784744;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=17076;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.8171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18023365;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2796,1610;ESP6500_AA_AGE=659.9+/-400.6;ESP6500_AA_GTC=892,1012,299;ESP6500_CDS_SIZES=NM_018125.3:3840,NM_001011722.2:3723;ESP6500_CG=-4.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=7151,1449;ESP6500_EA_AGE=747.6+/-407.3;ESP6500_EA_GTC=2979,1193,128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018125.3:coding-synonymous,NM_001011722.2:coding-synonymous;ESP6500_GL=ARHGEF10L;ESP6500_GRCh38_POSITION=1:17696870;ESP6500_GTC=3871,2205,427;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018125.3:c.3330C>T,NM_001011722.2:c.3213C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018125.3:p.(N1110),NM_001011722.2:p.(N1071);ESP6500_MAF=16.8488,36.5411,23.5199;ESP6500_TAC=9947,3059	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1117,114,0
chr1	17697014	rs2270977	T	C	1323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270977;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|29/29|c.3474T>C|p.Asp1158Asp|3633/4494|3474/3840|1158/1279||,C|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|27/27|c.3357T>C|p.Asp1119Asp|3400/4261|3357/3723|1119/1240||,C|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|26/26|c.3342T>C|p.Asp1114Asp|3385/4246|3342/3708|1114/1235||,C|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding|21/21|c.2808T>C|p.Asp936Asp|2849/3704|2808/3174|936/1057||,C|synonymous_variant|LOW|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding|18/18|c.2583T>C|p.Asp861Asp|2624/3485|2583/2949|861/982||,C|non_coding_transcript_exon_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|30/30|n.4380T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|29/29|n.4260T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4180;p3_1000G_AF=0.834665;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=14932;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.8171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18023509;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3313,1071;ESP6500_AA_GTC=1282,749,161;ESP6500_CDS_SIZES=NM_018125.3:3840,NM_001011722.2:3723;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=7137,1441;ESP6500_EA_GTC=2982,1173,134;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018125.3:coding-synonymous,NM_001011722.2:coding-synonymous;ESP6500_GL=ARHGEF10L;ESP6500_GRCh38_POSITION=1:17697014;ESP6500_GTC=4264,1922,295;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018125.3:c.3474T>C,NM_001011722.2:c.3357T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018125.3:p.(D1158),NM_001011722.2:p.(D1119);ESP6500_MAF=16.7988,24.4297,19.3797;ESP6500_TAC=10450,2512	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1352,108,0
chr1	17697195	rs2270976	A	G	1642.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=0.732;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270976;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|ARHGEF10L|ARHGEF10L|transcript|NM_018125.3|protein_coding|29/29|c.3655A>G|p.Ile1219Val|3814/4494|3655/3840|1219/1279||,G|missense_variant|MODERATE|ARHGEF10L|ARHGEF10L|transcript|NM_001011722.2|protein_coding|27/27|c.3538A>G|p.Ile1180Val|3581/4261|3538/3723|1180/1240||,G|missense_variant|MODERATE|ARHGEF10L|ARHGEF10L|transcript|NM_001319837.1|protein_coding|26/26|c.3523A>G|p.Ile1175Val|3566/4246|3523/3708|1175/1235||,G|missense_variant|MODERATE|ARHGEF10L|ARHGEF10L|transcript|NM_001328124.1|protein_coding|21/21|c.2989A>G|p.Ile997Val|3030/3704|2989/3174|997/1057||,G|missense_variant|MODERATE|ARHGEF10L|ARHGEF10L|transcript|NM_001319838.1|protein_coding|18/18|c.2764A>G|p.Ile922Val|2805/3485|2764/2949|922/982||,G|non_coding_transcript_exon_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137287.1|pseudogene|30/30|n.4561A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|ARHGEF10L|ARHGEF10L|transcript|NR_137288.1|pseudogene|29/29|n.4441A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4120;p3_1000G_AF=0.822684;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=15288;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.8211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18023690;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3132,1254;ESP6500_AA_GTC=1149,834,210;ESP6500_CDS_SIZES=NM_018125.3:3840,NM_001011722.2:3723;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=19;ESP6500_EA_AC=7157,1397;ESP6500_EA_GTC=3009,1139,129;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018125.3:missense,NM_001011722.2:missense;ESP6500_GL=ARHGEF10L;ESP6500_GRCh38_POSITION=1:17697195;ESP6500_GS=29,29;ESP6500_GTC=4158,1973,339;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018125.3:c.3655A>G,NM_001011722.2:c.3538A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018125.3:p.(I1219V),NM_001011722.2:p.(I1180V);ESP6500_MAF=16.3315,28.591,20.4869;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10289,2651	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1671,153,0
chr1	17823015	rs694214	G	T	1050.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.495;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.857;SOR=0.543;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs694214;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|ACTL8|ACTL8|transcript|NM_030812.2|protein_coding|2/3|c.7G>T|p.Ala3Ser|223/1861|7/1101|3/366||;p3_1000G_AA=G|||;p3_1000G_AC=1531;p3_1000G_AF=0.305711;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=19268;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18149510;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=892,3514;ESP6500_AA_AGE=347.5+/-309.5;ESP6500_AA_GTC=98,696,1409;ESP6500_CDS_SIZES=NM_030812.2:1101;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=36;ESP6500_EA_AC=3629,4971;ESP6500_EA_AGE=520.6+/-379.7;ESP6500_EA_GTC=772,2085,1443;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030812.2:missense;ESP6500_GL=ACTL8;ESP6500_GRCh38_POSITION=1:17823015;ESP6500_GS=99;ESP6500_GTC=870,2781,2852;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_030812.2:c.7G>T;ESP6500_HGVS_PROTEIN_VAR=NM_030812.2:p.(A3S);ESP6500_MAF=42.1977,20.2451,34.7609;ESP6500_PH=benign:0.004;ESP6500_TAC=4521,8485	GT:AD:DP:GQ:PL	0/1:39,39:78:99:1079,0,1230
chr1	17823071	rs2296035	C	A	1397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.642;ClippingRankSum=0;DP=125;ExcessHet=3.0103;FS=1.466;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.027;SOR=0.872;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296035;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|ACTL8|ACTL8|transcript|NM_030812.2|protein_coding|2/3|c.63C>A|p.Gly21Gly|279/1861|63/1101|21/366||;p3_1000G_AA=C|||;p3_1000G_AC=2418;p3_1000G_AF=0.482827;p3_1000G_AFR_AF=0.3215;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18379;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.4732;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18149566;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1513,2893;ESP6500_AA_AGE=483.2+/-359.6;ESP6500_AA_GTC=276,961,966;ESP6500_CDS_SIZES=NM_030812.2:1101;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=67;ESP6500_EA_AC=3975,4625;ESP6500_EA_AGE=552.6+/-386.1;ESP6500_EA_GTC=926,2123,1251;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030812.2:coding-synonymous;ESP6500_GL=ACTL8;ESP6500_GRCh38_POSITION=1:17823071;ESP6500_GTC=1202,3084,2217;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_030812.2:c.63C>A;ESP6500_HGVS_PROTEIN_VAR=NM_030812.2:p.(G21);ESP6500_MAF=46.2209,34.3395,42.1959;ESP6500_TAC=5488,7518	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1426,0,1864
chr1	18227851	rs61762155	T	C	1108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=2.15;SOR=0.606;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61762155;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|IGSF21|IGSF21|transcript|NM_032880.4|protein_coding|1/9|c.71-47T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=19554;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.2893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18554345;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=334,4072;ESP6500_AA_GTC=9,316,1878;ESP6500_CDS_SIZES=NM_032880.4:1404;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=89;ESP6500_EA_AC=2386,6214;ESP6500_EA_GTC=357,1672,2271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032880.4:intron;ESP6500_GL=IGSF21;ESP6500_GRCh38_POSITION=1:18227851;ESP6500_GTC=366,1988,4149;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032880.4:c.71-47T>C;ESP6500_MAF=27.7442,7.5806,20.9134;ESP6500_TAC=2720,10286	GT:AD:DP:GQ:PL	0/1:33,43:76:99:1137,0,810
chr1	18227862	rs3738087	C	T	1103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.926;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=1.846;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.636;SOR=0.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738087;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|IGSF21|IGSF21|transcript|NM_032880.4|protein_coding|1/9|c.71-36C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=920;p3_1000G_AF=0.183706;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=19728;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.2893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18554356;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=349,4057;ESP6500_AA_AGE=182.2+/-210.1;ESP6500_AA_GTC=9,331,1863;ESP6500_CDS_SIZES=NM_032880.4:1404;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=105;ESP6500_EA_AC=2434,6166;ESP6500_EA_AGE=403.2+/-347.7;ESP6500_EA_GTC=357,1720,2223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032880.4:intron;ESP6500_GL=IGSF21;ESP6500_GRCh38_POSITION=1:18227862;ESP6500_GTC=366,2051,4086;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032880.4:c.71-36C>T;ESP6500_MAF=28.3023,7.921,21.3978;ESP6500_TAC=2783,10223	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1132,0,893
chr1	18376494	rs10796450	T	C	940.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10796450;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|IGSF21|IGSF21|transcript|NM_032880.4|protein_coding|7/9|c.1101+99T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4962;p3_1000G_AF=0.990815;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=18696;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18702988;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:969,90,0
chr1	18376714	rs10796451	C	G	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=-1.102;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10796451;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|IGSF21|IGSF21|transcript|NM_032880.4|protein_coding|7/9|c.1102-86C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3704;p3_1000G_AF=0.739617;p3_1000G_AFR_AF=0.7685;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=18190;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.7575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18703208;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:99:123,0,354
chr1	18378208	rs16861869	C	T	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.69;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.24;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16861869;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|IGSF21|IGSF21|transcript|NM_032880.4|protein_coding|9/9|c.1334-48C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=197;p3_1000G_AF=0.0393371;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16872;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18704702;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_032880.4:1404;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=39;ESP6500_EA_AC=8,8592;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=0,8,4292;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032880.4:intron;ESP6500_GL=IGSF21;ESP6500_GRCh38_POSITION=1:18378208;ESP6500_GTC=0,10,6493;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032880.4:c.1334-48C>T;ESP6500_MAF=0.093,0.0454,0.0769;ESP6500_TAC=10,12996	GT:AD:DP:GQ:PL	0/1:10,12:22:99:334,0,313
chr1	18378368	rs1043459	A	G	817.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.261;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.691;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.78;ReadPosRankSum=-0.584;SOR=0.328;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1043459;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|IGSF21|IGSF21|transcript|NM_032880.4|protein_coding|10/10|c.*42A>G|||||42|;p3_1000G_AA=G|||;p3_1000G_AC=3026;p3_1000G_AF=0.604233;p3_1000G_AFR_AF=0.7655;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=18438;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18704862;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3126,1280;ESP6500_AA_GTC=1105,916,182;ESP6500_CDS_SIZES=NM_032880.4:1404;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=22;ESP6500_EA_AC=3613,4987;ESP6500_EA_GTC=766,2081,1453;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032880.4:utr-3;ESP6500_GL=IGSF21;ESP6500_GRCh38_POSITION=1:18378368;ESP6500_GTC=1871,2997,1635;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032880.4:c.*42A>G;ESP6500_MAF=42.0116,29.0513,48.1855;ESP6500_TAC=6739,6267	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,21:33:99:0|1:18378368_A_G:846,0,670
chr1	18378369	rs61689671	C	T	817.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.437;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=4.27;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.56;ReadPosRankSum=-1.209;SOR=0.159;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61689671;dbSNPBuildID=129;ANN=T|3_prime_UTR_variant|MODIFIER|IGSF21|IGSF21|transcript|NM_032880.4|protein_coding|10/10|c.*43C>T|||||43|;p3_1000G_AA=C|||;p3_1000G_AC=193;p3_1000G_AF=0.0385383;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18545;p3_1000G_EAS_AF=0.1478;p3_1000G_EUR_AF=0.0099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18704863;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,4405;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_032880.4:1404;ESP6500_CG=4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=22;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032880.4:utr-3;ESP6500_GL=IGSF21;ESP6500_GRCh38_POSITION=1:18378369;ESP6500_GTC=0,4,6499;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032880.4:c.*43C>T;ESP6500_MAF=0.0349,0.0227,0.0308;ESP6500_TAC=4,13002	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,21:32:99:0|1:18378368_A_G:846,0,670
chr1	18480845	rs2992756	T	C	650.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2992756;dbSNPBuildID=101;ANN=C|upstream_gene_variant|MODIFIER|KLHDC7A|KLHDC7A|transcript|NM_152375.2|protein_coding||c.-137T>C|||||85|,C|intergenic_region|MODIFIER|IGSF21-KLHDC7A|IGSF21-KLHDC7A|intergenic_region|IGSF21-KLHDC7A|||n.18480845T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2765;p3_1000G_AF=0.552117;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=16370;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18807339;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:679,57,0
chr1	18481403	rs2992755	C	G	1121.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2992755;dbSNPBuildID=101;ANN=G|missense_variant|MODERATE|KLHDC7A|KLHDC7A|transcript|NM_152375.2|protein_coding|1/1|c.422C>G|p.Pro141Arg|474/5057|422/2334|141/777||;p3_1000G_AA=G|||;p3_1000G_AC=3240;p3_1000G_AF=0.646965;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=17597;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.6113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18807897;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2422,1644;ESP6500_AA_GTC=728,966,339;ESP6500_CDS_SIZES=NM_152375.2:2334;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=33;ESP6500_EA_AC=5311,3069;ESP6500_EA_GTC=1682,1947,561;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152375.2:missense;ESP6500_GL=KLHDC7A;ESP6500_GRCh38_POSITION=1:18481403;ESP6500_GS=103;ESP6500_GTC=2410,2913,900;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152375.2:c.422C>G;ESP6500_HGVS_PROTEIN_VAR=NM_152375.2:p.(P141R);ESP6500_MAF=36.6229,40.4329,37.8676;ESP6500_PH=benign:0.0;ESP6500_TAC=7733,4713	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1150,102,0
chr1	18481444	rs2992754	C	A	1179.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2992754;dbSNPBuildID=101;ANN=A|missense_variant|MODERATE|KLHDC7A|KLHDC7A|transcript|NM_152375.2|protein_coding|1/1|c.463C>A|p.Pro155Thr|515/5057|463/2334|155/777||;p3_1000G_AA=C|||;p3_1000G_AC=1336;p3_1000G_AF=0.266773;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=17697;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.1252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18807938;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=797,3361;ESP6500_AA_GTC=75,647,1357;ESP6500_CDS_SIZES=NM_152375.2:2334;ESP6500_CG=5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=36;ESP6500_EA_AC=1208,7214;ESP6500_EA_GTC=80,1048,3083;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152375.2:missense;ESP6500_GL=KLHDC7A;ESP6500_GRCh38_POSITION=1:18481444;ESP6500_GS=38;ESP6500_GTC=155,1695,4440;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152375.2:c.463C>A;ESP6500_HGVS_PROTEIN_VAR=NM_152375.2:p.(P155T);ESP6500_MAF=14.3434,19.1679,15.938;ESP6500_PH=possibly-damaging:0.845;ESP6500_TAC=2005,10575	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1208,114,0
chr1	18481798	rs2992753	C	A	1904.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2992753;dbSNPBuildID=101;ANN=A|missense_variant|MODERATE|KLHDC7A|KLHDC7A|transcript|NM_152375.2|protein_coding|1/1|c.817C>A|p.His273Asn|869/5057|817/2334|273/777||;p3_1000G_AA=A|||;p3_1000G_AC=3370;p3_1000G_AF=0.672923;p3_1000G_AFR_AF=0.6604;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=19405;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.6113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18808292;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2930,1476;ESP6500_AA_AGE=471.8+/-356.2;ESP6500_AA_GTC=967,996,240;ESP6500_CDS_SIZES=NM_152375.2:2334;ESP6500_CG=4.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=81;ESP6500_EA_AC=5407,3193;ESP6500_EA_AGE=479.0+/-370.0;ESP6500_EA_GTC=1697,2013,590;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152375.2:missense;ESP6500_GL=KLHDC7A;ESP6500_GRCh38_POSITION=1:18481798;ESP6500_GS=68;ESP6500_GTC=2664,3009,830;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152375.2:c.817C>A;ESP6500_HGVS_PROTEIN_VAR=NM_152375.2:p.(H273N);ESP6500_MAF=37.1279,33.4998,35.8988;ESP6500_PH=benign:0.0;ESP6500_TAC=8337,4669	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1933,180,0
chr1	18481971	rs3007718	T	A	1657.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3007718;dbSNPBuildID=101;ANN=A|synonymous_variant|LOW|KLHDC7A|KLHDC7A|transcript|NM_152375.2|protein_coding|1/1|c.990T>A|p.Ala330Ala|1042/5057|990/2334|330/777||;p3_1000G_AA=A|||;p3_1000G_AC=3369;p3_1000G_AF=0.672724;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=13211;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.6113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18808465;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2912,1478;ESP6500_AA_GTC=987,938,270;ESP6500_CDS_SIZES=NM_152375.2:2334;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=17;ESP6500_EA_AC=5388,3184;ESP6500_EA_GTC=1724,1940,622;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152375.2:coding-synonymous;ESP6500_GL=KLHDC7A;ESP6500_GRCh38_POSITION=1:18481971;ESP6500_GTC=2711,2878,892;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_152375.2:c.990T>A;ESP6500_HGVS_PROTEIN_VAR=NM_152375.2:p.(A330);ESP6500_MAF=37.1442,33.6674,35.9667;ESP6500_TAC=8300,4662	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1686,150,0
chr1	18482032	rs2992752	A	C	1311.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2992752;dbSNPBuildID=101;ANN=C|missense_variant|MODERATE|KLHDC7A|KLHDC7A|transcript|NM_152375.2|protein_coding|1/1|c.1051A>C|p.Thr351Pro|1103/5057|1051/2334|351/777||;p3_1000G_AA=C|||;p3_1000G_AC=3369;p3_1000G_AF=0.672724;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=15380;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.6113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18808526;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2798,1418;ESP6500_AA_GTC=971,856,281;ESP6500_CDS_SIZES=NM_152375.2:2334;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=15;ESP6500_EA_AC=5294,3114;ESP6500_EA_GTC=1724,1846,634;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152375.2:missense;ESP6500_GL=KLHDC7A;ESP6500_GRCh38_POSITION=1:18482032;ESP6500_GS=38;ESP6500_GTC=2695,2702,915;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_152375.2:c.1051A>C;ESP6500_HGVS_PROTEIN_VAR=NM_152375.2:p.(T351P);ESP6500_MAF=37.0362,33.6338,35.8999;ESP6500_PH=benign:0.0;ESP6500_TAC=8092,4532	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1340,108,0
chr1	18482217	rs2992751	G	C	739.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2992751;dbSNPBuildID=101;ANN=C|synonymous_variant|LOW|KLHDC7A|KLHDC7A|transcript|NM_152375.2|protein_coding|1/1|c.1236G>C|p.Gly412Gly|1288/5057|1236/2334|412/777||;p3_1000G_AA=G|||;p3_1000G_AC=1321;p3_1000G_AF=0.263778;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=14427;p3_1000G_EAS_AF=0.625;p3_1000G_EUR_AF=0.1173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18808711;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=845,3561;ESP6500_AA_GTC=85,675,1443;ESP6500_CDS_SIZES=NM_152375.2:2334;ESP6500_CG=2.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=32;ESP6500_EA_AC=1051,7549;ESP6500_EA_GTC=54,943,3303;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152375.2:coding-synonymous;ESP6500_GL=KLHDC7A;ESP6500_GRCh38_POSITION=1:18482217;ESP6500_GTC=139,1618,4746;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_152375.2:c.1236G>C;ESP6500_HGVS_PROTEIN_VAR=NM_152375.2:p.(G412);ESP6500_MAF=12.2209,19.1784,14.5779;ESP6500_TAC=1896,11110	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:18482215_G_A:768,66,0
chr1	18691911	rs2076020	G	A	395.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.956;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.313;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-1.909;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076020;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_002584.2|protein_coding|5/8|c.744G>A|p.Glu248Glu|1342/2260|744/1563|248/520||,A|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_013945.2|protein_coding|5/8|c.738G>A|p.Glu246Glu|1336/2254|738/1557|246/518||,A|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_001135254.1|protein_coding|5/9|c.744G>A|p.Glu248Glu|1342/6053|744/1518|248/505||;p3_1000G_AA=G|||;p3_1000G_AC=506;p3_1000G_AF=0.101038;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=19361;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19018405;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=74,4330;ESP6500_AA_AGE=64.1+/-101.4;ESP6500_AA_GTC=0,74,2128;ESP6500_CDS_SIZES=NM_013945.2:1557,NM_002584.2:1563,NM_001135254.1:1518;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=39;ESP6500_EA_AC=452,8146;ESP6500_EA_AGE=132.2+/-189.8;ESP6500_EA_GTC=13,426,3860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013945.2:coding-synonymous,NM_002584.2:coding-synonymous,NM_001135254.1:coding-synonymous;ESP6500_GL=PAX7;ESP6500_GRCh38_POSITION=1:18691911;ESP6500_GTC=13,500,5988;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_013945.2:c.738G>A,NM_002584.2:c.744G>A,NM_001135254.1:c.744G>A;ESP6500_HGVS_PROTEIN_VAR=NM_013945.2:p.(E246),NM_002584.2:p.(E248),NM_001135254.1:p.(E248);ESP6500_MAF=5.257,1.6803,4.0455;ESP6500_TAC=526,12476	GT:AD:DP:GQ:PL	0/1:19,16:35:99:424,0,547
chr1	18691938	rs2076019	A	C	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.391;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.998;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076019;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_002584.2|protein_coding|5/8|c.771A>C|p.Thr257Thr|1369/2260|771/1563|257/520||,C|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_013945.2|protein_coding|5/8|c.765A>C|p.Thr255Thr|1363/2254|765/1557|255/518||,C|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_001135254.1|protein_coding|5/9|c.771A>C|p.Thr257Thr|1369/6053|771/1518|257/505||;p3_1000G_AA=C|||;p3_1000G_AC=625;p3_1000G_AF=0.1248;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=19367;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19018432;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=252,4150;ESP6500_AA_AGE=789.8+/-415.0;ESP6500_AA_GTC=6,240,1955;ESP6500_CDS_SIZES=NM_013945.2:1557,NM_002584.2:1563,NM_001135254.1:1518;ESP6500_CG=-9.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=36;ESP6500_EA_AC=460,8136;ESP6500_EA_AGE=790.3+/-407.6;ESP6500_EA_GTC=13,434,3851;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013945.2:coding-synonymous,NM_002584.2:coding-synonymous,NM_001135254.1:coding-synonymous;ESP6500_GL=PAX7;ESP6500_GRCh38_POSITION=1:18691938;ESP6500_GTC=19,674,5806;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_013945.2:c.765A>C,NM_002584.2:c.771A>C,NM_001135254.1:c.771A>C;ESP6500_HGVS_PROTEIN_VAR=NM_013945.2:p.(T255),NM_002584.2:p.(T257),NM_001135254.1:p.(T257);ESP6500_MAF=5.3513,5.7247,5.4778;ESP6500_TAC=712,12286	GT:AD:DP:GQ:PL	0/1:22,13:35:99:365,0,583
chr1	18700745	rs2743201	A	G	751.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2743201;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_002584.2|protein_coding|6/8|c.879A>G|p.Pro293Pro|1477/2260|879/1563|293/520||,G|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_013945.2|protein_coding|6/8|c.873A>G|p.Pro291Pro|1471/2254|873/1557|291/518||,G|synonymous_variant|LOW|PAX7|PAX7|transcript|NM_001135254.1|protein_coding|6/9|c.879A>G|p.Pro293Pro|1477/6053|879/1518|293/505||;p3_1000G_AA=G|||;p3_1000G_AC=2447;p3_1000G_AF=0.488618;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=14149;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.2575;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19027239;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2593,1813;ESP6500_AA_AGE=519.1+/-369.9;ESP6500_AA_GTC=761,1071,371;ESP6500_CDS_SIZES=NM_013945.2:1557,NM_002584.2:1563,NM_001135254.1:1518;ESP6500_CG=-9.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=2246,6354;ESP6500_EA_AGE=700.1+/-405.1;ESP6500_EA_GTC=308,1630,2362;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013945.2:coding-synonymous,NM_002584.2:coding-synonymous,NM_001135254.1:coding-synonymous;ESP6500_GL=PAX7;ESP6500_GRCh38_POSITION=1:18700745;ESP6500_GTC=1069,2701,2733;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_013945.2:c.873A>G,NM_002584.2:c.879A>G,NM_001135254.1:c.879A>G;ESP6500_HGVS_PROTEIN_VAR=NM_013945.2:p.(P291),NM_002584.2:p.(P293),NM_001135254.1:p.(P293);ESP6500_MAF=26.1163,41.1484,37.2059;ESP6500_TAC=4839,8167	GT:AD:DP:GQ:PL	1/1:0,25:25:75:780,75,0
chr1	18703052	rs1416464	A	G	338.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1416464;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|PAX7|PAX7|transcript|NM_002584.2|protein_coding|6/7|c.953-42A>G||||||,G|intron_variant|MODIFIER|PAX7|PAX7|transcript|NM_013945.2|protein_coding|6/7|c.947-42A>G||||||,G|intron_variant|MODIFIER|PAX7|PAX7|transcript|NM_001135254.1|protein_coding|6/8|c.953-42A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2453;p3_1000G_AF=0.489816;p3_1000G_AFR_AF=0.6445;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=17332;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.2575;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19029546;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2450,1890;ESP6500_AA_GTC=726,998,446;ESP6500_CDS_SIZES=NM_013945.2:1557,NM_002584.2:1563,NM_001135254.1:1518;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=16;ESP6500_EA_AC=2074,6408;ESP6500_EA_GTC=294,1486,2461;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013945.2:intron,NM_002584.2:intron,NM_001135254.1:intron;ESP6500_GL=PAX7;ESP6500_GRCh38_POSITION=1:18703052;ESP6500_GTC=1020,2484,2907;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_013945.2:c.947-42A>G,NM_002584.2:c.953-42A>G,NM_001135254.1:c.953-42A>G;ESP6500_MAF=24.4518,43.5484,35.2831;ESP6500_TAC=4524,8298	GT:AD:DP:GQ:PL	1/1:0,9:9:27:367,27,0
chr1	18736185	rs1178233898	C	T	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.166;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.992;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|downstream_gene_variant|MODIFIER|PAX7|PAX7|transcript|NM_002584.2|protein_coding||c.*146C>T|||||47|,T|downstream_gene_variant|MODIFIER|PAX7|PAX7|transcript|NM_013945.2|protein_coding||c.*146C>T|||||47|,T|intron_variant|MODIFIER|PAX7|PAX7|transcript|NM_001135254.1|protein_coding|8/8|c.1402+307C>T||||||	GT:AD:DP:GQ:PL	0/1:7,4:11:99:123,0,258
chr1	18839800	rs12033832	G	A	995.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=1.001;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.94;SOR=0.539;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12033832;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|TAS1R2|TAS1R2|transcript|NM_152232.2|protein_coding|6/6|c.2319C>T|p.Ser773Ser|2320/2521|2319/2520|773/839||;p3_1000G_AA=G|||;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=20022;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19166294;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1064,3342;ESP6500_AA_AGE=388.6+/-327.0;ESP6500_AA_GTC=117,830,1256;ESP6500_CDS_SIZES=NM_152232.2:2520;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=124;ESP6500_EA_AC=2888,5712;ESP6500_EA_AGE=453.0+/-363.1;ESP6500_EA_GTC=503,1882,1915;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152232.2:coding-synonymous;ESP6500_GL=TAS1R2;ESP6500_GRCh38_POSITION=1:18839800;ESP6500_GTC=620,2712,3171;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152232.2:c.2319C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152232.2:p.(S773);ESP6500_MAF=33.5814,24.1489,30.386;ESP6500_TAC=3952,9054	GT:AD:DP:GQ:PL	0/1:25,37:62:99:1024,0,646
chr1	18841984	rs35542368;rs772647089	G	GA	42.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.842;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35542368;dbSNPBuildID=144,126;ANN=GA|intron_variant|MODIFIER|TAS1R2|TAS1R2|transcript|NM_152232.2|protein_coding|4/5|c.1468-133dupT||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:31:80,0,31
chr1	18859635	rs9701796	G	C	792.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9701796;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|TAS1R2|TAS1R2|transcript|NM_152232.2|protein_coding|1/6|c.26C>G|p.Ser9Cys|27/2521|26/2520|9/839||;p3_1000G_AA=c|||;p3_1000G_AC=3996;p3_1000G_AF=0.797923;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=19772;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.7833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19186129;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA_AC=3658,748;ESP6500_AA_AGE=308.3+/-290.5;ESP6500_AA_GTC=1516,626,61;ESP6500_CDS_SIZES=NM_152232.2:2520;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=105;ESP6500_EA_AC=6650,1950;ESP6500_EA_AGE=344.1+/-325.2;ESP6500_EA_GTC=2571,1508,221;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152232.2:missense;ESP6500_GL=TAS1R2;ESP6500_GRCh38_POSITION=1:18859635;ESP6500_GS=112;ESP6500_GTC=4087,2134,282;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_152232.2:c.26C>G;ESP6500_HGVS_PROTEIN_VAR=NM_152232.2:p.(S9C);ESP6500_MAF=22.6744,16.9768,20.7443;ESP6500_PH=benign:0.0;ESP6500_TAC=10308,2698	GT:AD:DP:GQ:PL	1/1:0,25:25:75:821,75,0
chr1	18872979	rs28700162	T	A	384.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.659;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.873;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28700162;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|14/14|c.1580-22A>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|14/14|c.1400-22A>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|13/13|c.1427-22A>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|14/15|c.1580-22A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2361;p3_1000G_AF=0.471446;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=22010;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.4513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19199473;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1114,3292;ESP6500_AA_AGE=399.5+/-331.2;ESP6500_AA_GTC=146,822,1235;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=56;ESP6500_EA_AC=3675,4925;ESP6500_EA_AGE=524.9+/-380.6;ESP6500_EA_GTC=773,2129,1398;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:intron,NM_003748.3:intron,NM_001161504.1:intron;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18872979;ESP6500_GTC=919,2951,2633;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.1580-22A>T,NM_003748.3:c.1580-22A>T,NM_001161504.1:c.1400-22A>T;ESP6500_MAF=42.7326,25.2837,36.8215;ESP6500_TAC=4789,8217	GT:AD:DP:GQ:PL	0/1:21,19:40:99:413,0,542
chr1	18874414	rs28529092	G	C	505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.455;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.45;ReadPosRankSum=0.404;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28529092;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|14/14|c.1579+49C>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|14/14|c.1399+49C>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|13/13|c.1426+49C>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|14/15|c.1579+49C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2747;p3_1000G_AF=0.548522;p3_1000G_AFR_AF=0.4349;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18685;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.4692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19200908;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1883,2523;ESP6500_AA_AGE=539.8+/-375.3;ESP6500_AA_GTC=404,1075,724;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=71;ESP6500_EA_AC=3808,4792;ESP6500_EA_AGE=535.8+/-382.9;ESP6500_EA_GTC=833,2142,1325;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:intron,NM_003748.3:intron,NM_001161504.1:intron;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18874414;ESP6500_GTC=1237,3217,2049;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.1579+49C>G,NM_003748.3:c.1579+49C>G,NM_001161504.1:c.1399+49C>G;ESP6500_MAF=44.2791,42.7372,43.7567;ESP6500_TAC=5691,7315	GT:AD:DP:GQ:PL	0/1:10,16:26:99:534,0,311
chr1	18874690	rs6665917	G	C	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.588;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.53;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=1.43;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6665917;dbSNPBuildID=116;ANN=C|sequence_feature|LOW|ALDH4A1|ALDH4A1|helix:combinatorial_evidence_used_in_manual_assertion|NM_003748.3|protein_coding|13/14|c.1461-109C>G||||||,C|sequence_feature|LOW|ALDH4A1|ALDH4A1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001319218.1|protein_coding|12/13|c.1308-109C>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|13/14|c.1461-109C>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|13/14|c.1281-109C>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|12/13|c.1308-109C>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|13/15|c.1461-109C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3347;p3_1000G_AF=0.668331;p3_1000G_AFR_AF=0.5174;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=18645;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.7038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19201184;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,10:26:99:263,0,413
chr1	18874717	rs35163726;rs397702649	T	TG	182.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.964;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.45;SOR=1.828;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35163726;dbSNPBuildID=126,138;ANN=TG|sequence_feature|LOW|ALDH4A1|ALDH4A1|helix:combinatorial_evidence_used_in_manual_assertion|NM_003748.3|protein_coding|13/14|c.1461-137dupC||||||,TG|sequence_feature|LOW|ALDH4A1|ALDH4A1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001319218.1|protein_coding|12/13|c.1308-137dupC||||||,TG|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|13/14|c.1461-137dupC||||||,TG|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|13/14|c.1281-137dupC||||||,TG|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|12/13|c.1308-137dupC||||||,TG|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|13/15|c.1461-137dupC||||||;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=3278;p3_1000G_AF=0.654553;p3_1000G_AFR_AF=0.5204;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=19182;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19201211;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,7:14:99:220,0,218
chr1	18875462	rs2230708;294369	A	G	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.095;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.56;ReadPosRankSum=-1.16;SOR=0.824;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230708;dbSNPBuildID=98;ANN=G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:A_359-A_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:B_325-B_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:B_359-B_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:C_359-C_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:D_359-D_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:A_359-A_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:B_325-B_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:B_359-B_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:C_359-C_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9I:A_359-A_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9I:B_359-B_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9I:C_359-C_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:A_359-A_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:B_359-B_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:C_359-C_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:D_359-D_460:NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:A_359-A_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:B_325-B_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:B_359-B_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:C_359-C_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:D_359-D_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:A_359-A_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:B_325-B_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:B_359-B_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:C_359-C_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9I:A_359-A_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9I:B_359-B_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9I:C_359-C_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:A_359-A_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:B_359-B_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:C_359-C_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:D_359-D_460:NM_170726.2|protein_coding|13/16|c.1380T>C||||||,G|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|13/15|c.1380T>C|p.Asp460Asp|1656/3383|1380/1692|460/563||,G|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|13/15|c.1200T>C|p.Asp400Asp|1516/3243|1200/1512|400/503||,G|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|12/14|c.1227T>C|p.Asp409Asp|1503/3230|1227/1539|409/512||,G|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|13/16|c.1380T>C|p.Asp460Asp|1656/2370|1380/1692|460/563||,G|sequence_feature|LOW|ALDH4A1|ALDH4A1|helix:combinatorial_evidence_used_in_manual_assertion|NM_003748.3|protein_coding|13/15|c.1380T>C||||||,G|sequence_feature|LOW|ALDH4A1|ALDH4A1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001319218.1|protein_coding|12/14|c.1227T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3692;p3_1000G_AF=0.73722;p3_1000G_AFR_AF=0.705;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=18480;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.7386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19201956;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2993,1413;ESP6500_AA_AGE=462.1+/-353.1;ESP6500_AA_GTC=1024,945,234;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=-10.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=112;ESP6500_EA_AC=6140,2460;ESP6500_EA_AGE=404.8+/-348.3;ESP6500_EA_GTC=2191,1758,351;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:coding-synonymous,NM_003748.3:coding-synonymous,NM_001161504.1:coding-synonymous;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18875462;ESP6500_GTC=3215,2703,585;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.1380T>C,NM_003748.3:c.1380T>C,NM_001161504.1:c.1200T>C;ESP6500_HGVS_PROTEIN_VAR=NM_170726.2:p.(D460),NM_003748.3:p.(D460),NM_001161504.1:p.(D400);ESP6500_MAF=28.6047,32.0699,29.7786;ESP6500_TAC=9133,3873;CLINVAR_ALLELEID=279074;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLINVAR_CLNDN=Hyperprolinemia;CLINVAR_CLNHGVS=NC_000001.11:g.18875462A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:575;CLINVAR_GENEINFO=ALDH4A1:8659;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2230708	GT:AD:DP:GQ:PL	0/1:21,9:30:99:195,0,589
chr1	18876276	rs7550822	T	C	3058.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7550822;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|12/14|c.1338+39A>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|12/14|c.1158+39A>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|11/13|c.1186-773A>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|12/15|c.1338+39A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4605;p3_1000G_AF=0.919529;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=18861;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9732;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19202770;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3458,948;ESP6500_AA_AGE=357.6+/-314.0;ESP6500_AA_GTC=1346,766,91;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=62;ESP6500_EA_AC=8424,176;ESP6500_EA_AGE=80.1+/-142.7;ESP6500_EA_GTC=4125,174,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:intron,NM_003748.3:intron,NM_001161504.1:intron;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18876276;ESP6500_GTC=5471,940,92;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.1338+39A>G,NM_003748.3:c.1338+39A>G,NM_001161504.1:c.1158+39A>G;ESP6500_MAF=2.0465,21.5161,8.6422;ESP6500_TAC=11882,1124	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3087,282,0
chr1	18876423	rs7550938;294375	T	C	933.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.755;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7550938;dbSNPBuildID=116;ANN=C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:A_410-A_441:NM_003748.3|protein_coding|12/15|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:B_410-B_441:NM_003748.3|protein_coding|12/15|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:C_410-C_441:NM_003748.3|protein_coding|12/15|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:D_410-D_441:NM_003748.3|protein_coding|12/15|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:A_410-A_441:NM_003748.3|protein_coding|12/15|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:B_410-B_441:NM_003748.3|protein_coding|12/15|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:B_410-B_441:NM_003748.3|protein_coding|12/15|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:D_410-D_441:NM_003748.3|protein_coding|12/15|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:A_410-A_441:NM_170726.2|protein_coding|12/16|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:B_410-B_441:NM_170726.2|protein_coding|12/16|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:C_410-C_441:NM_170726.2|protein_coding|12/16|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:D_410-D_441:NM_170726.2|protein_coding|12/16|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:A_410-A_441:NM_170726.2|protein_coding|12/16|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9H:B_410-B_441:NM_170726.2|protein_coding|12/16|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:B_410-B_441:NM_170726.2|protein_coding|12/16|c.1230A>G||||||,C|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:D_410-D_441:NM_170726.2|protein_coding|12/16|c.1230A>G||||||,C|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|12/15|c.1230A>G|p.Ser410Ser|1506/3383|1230/1692|410/563||,C|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|12/15|c.1050A>G|p.Ser350Ser|1366/3243|1050/1512|350/503||,C|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|12/16|c.1230A>G|p.Ser410Ser|1506/2370|1230/1692|410/563||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|11/13|c.1185+785A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3310;p3_1000G_AF=0.660942;p3_1000G_AFR_AF=0.4728;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=18495;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19202917;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2136,2270;ESP6500_AA_AGE=559.9+/-380.3;ESP6500_AA_GTC=528,1080,595;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=-4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=38;ESP6500_EA_AC=5967,2633;ESP6500_EA_AGE=668.0+/-402.5;ESP6500_EA_GTC=2065,1837,398;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:coding-synonymous,NM_003748.3:coding-synonymous,NM_001161504.1:coding-synonymous;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18876423;ESP6500_GTC=2593,2917,993;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.1230A>G,NM_003748.3:c.1230A>G,NM_001161504.1:c.1050A>G;ESP6500_HGVS_PROTEIN_VAR=NM_170726.2:p.(S410),NM_003748.3:p.(S410),NM_001161504.1:p.(S350);ESP6500_MAF=30.6163,48.4793,37.698;ESP6500_TAC=8103,4903;CLINVAR_ALLELEID=278122;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLINVAR_CLNDN=Hyperprolinemia;CLINVAR_CLNHGVS=NC_000001.11:g.18876423T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:581;CLINVAR_GENEINFO=ALDH4A1:8659;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7550938	GT:AD:DP:GQ:PGT:PID:PL	0/1:42,25:67:99:0|1:18876423_T_C:962,0,2269
chr1	18876432	rs2230706;294376	T	C	909.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.829;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=1.013;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.565;SOR=0.468;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230706;dbSNPBuildID=98;ANN=C|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|12/15|c.1221A>G|p.Ala407Ala|1497/3383|1221/1692|407/563||,C|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|12/15|c.1041A>G|p.Ala347Ala|1357/3243|1041/1512|347/503||,C|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|12/16|c.1221A>G|p.Ala407Ala|1497/2370|1221/1692|407/563||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|11/13|c.1185+776A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3306;p3_1000G_AF=0.660144;p3_1000G_AFR_AF=0.4728;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=17831;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.7117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19202926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2130,2274;ESP6500_AA_GTC=525,1080,597;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=-4.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=33;ESP6500_EA_AC=5950,2650;ESP6500_EA_GTC=2065,1820,415;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:coding-synonymous,NM_003748.3:coding-synonymous,NM_001161504.1:coding-synonymous;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18876432;ESP6500_GTC=2590,2900,1012;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.1221A>G,NM_003748.3:c.1221A>G,NM_001161504.1:c.1041A>G;ESP6500_HGVS_PROTEIN_VAR=NM_170726.2:p.(A407),NM_003748.3:p.(A407),NM_001161504.1:p.(A347);ESP6500_MAF=30.814,48.3651,37.8653;ESP6500_TAC=8080,4924;CLINVAR_ALLELEID=278118;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLINVAR_CLNDN=Hyperprolinemia;CLINVAR_CLNHGVS=NC_000001.11:g.18876432T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:594;CLINVAR_GENEINFO=ALDH4A1:8659;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2230706	GT:AD:DP:GQ:PGT:PID:PL	0/1:40,26:66:99:0|1:18876423_T_C:938,0,2210
chr1	18876637	rs6664619	C	A	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=1.04;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6664619;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|11/14|c.1186-170G>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|11/14|c.1006-170G>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|11/13|c.1185+571G>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|11/15|c.1186-170G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1573;p3_1000G_AF=0.314097;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=19763;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19203131;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:71:71,0,74
chr1	18876661	rs151105387	C	CTGTGTGTGTGTGTG	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNPBuildID=134;ANN=CTGTGTGTGTGTGTG|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|11/14|c.1186-208_1186-195dupCACACACACACACA||||||,CTGTGTGTGTGTGTG|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|11/14|c.1006-208_1006-195dupCACACACACACACA||||||,CTGTGTGTGTGTGTG|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|11/13|c.1185+533_1185+546dupCACACACACACACA||||||,CTGTGTGTGTGTGTG|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|11/15|c.1186-208_1186-195dupCACACACACACACA||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:9:135,9,0
chr1	18877503	rs2230705;294382	C	G	1194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.31;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=4.856;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.187;SOR=1.042;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230705;dbSNPBuildID=98;ANN=G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:A_319-A_350:NM_003748.3|protein_coding|10/15|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:B_319-B_350:NM_003748.3|protein_coding|10/15|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:C_319-C_350:NM_003748.3|protein_coding|10/15|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:A_319-A_350:NM_003748.3|protein_coding|10/15|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:B_319-B_350:NM_003748.3|protein_coding|10/15|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:C_319-C_350:NM_003748.3|protein_coding|10/15|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:A_319-A_350:NM_170726.2|protein_coding|10/16|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:B_319-B_350:NM_170726.2|protein_coding|10/16|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|3V9G:C_319-C_350:NM_170726.2|protein_coding|10/16|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:A_319-A_350:NM_170726.2|protein_coding|10/16|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:B_319-B_350:NM_170726.2|protein_coding|10/16|c.1050G>C||||||,G|structural_interaction_variant|HIGH|ALDH4A1|ALDH4A1|interaction|4OE5:C_319-C_350:NM_170726.2|protein_coding|10/16|c.1050G>C||||||,G|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|10/15|c.1050G>C|p.Ala350Ala|1326/3383|1050/1692|350/563||,G|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|10/15|c.870G>C|p.Ala290Ala|1186/3243|870/1512|290/503||,G|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|10/14|c.1050G>C|p.Ala350Ala|1326/3230|1050/1539|350/512||,G|synonymous_variant|LOW|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|10/16|c.1050G>C|p.Ala350Ala|1326/2370|1050/1692|350/563||;p3_1000G_AA=G|||;p3_1000G_AC=3213;p3_1000G_AF=0.641573;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=14511;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.7117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19203997;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3168,1236;ESP6500_AA_GTC=1138,892,172;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=1.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=32;ESP6500_EA_AC=6082,2514;ESP6500_EA_GTC=2161,1760,377;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:coding-synonymous,NM_003748.3:coding-synonymous,NM_001161504.1:coding-synonymous;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18877503;ESP6500_GTC=3299,2652,549;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.1050G>C,NM_003748.3:c.1050G>C,NM_001161504.1:c.870G>C;ESP6500_HGVS_PROTEIN_VAR=NM_170726.2:p.(A350),NM_003748.3:p.(A350),NM_001161504.1:p.(A290);ESP6500_MAF=29.2462,28.0654,28.8462;ESP6500_TAC=9250,3750;CLINVAR_ALLELEID=278123;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0008358,MedGen:C0268528;CLINVAR_CLNDN=Hyperprolinemia;CLINVAR_CLNHGVS=NC_000001.11:g.18877503C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:591;CLINVAR_GENEINFO=ALDH4A1:8659;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2230705	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1223,0,1408
chr1	18877660	rs6426813	G	A	763.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.28;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426813;dbSNPBuildID=116;ANN=A|sequence_feature|LOW|ALDH4A1|ALDH4A1|active-site:Proton_acceptor|NM_003748.3|protein_coding|9/14|c.941-48C>T||||||,A|sequence_feature|LOW|ALDH4A1|ALDH4A1|active-site:Proton_acceptor|NM_001319218.1|protein_coding|9/13|c.941-48C>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|9/14|c.941-48C>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|9/14|c.761-48C>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|9/13|c.941-48C>T||||||,A|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|9/15|c.941-48C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4061;p3_1000G_AF=0.810903;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=14279;p3_1000G_EAS_AF=0.9583;p3_1000G_EUR_AF=0.7276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19204154;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3073,1149;ESP6500_AA_GTC=1130,813,168;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=8;ESP6500_EA_AC=6038,2284;ESP6500_EA_GTC=2228,1582,351;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:intron,NM_003748.3:intron,NM_001161504.1:intron;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18877660;ESP6500_GTC=3358,2395,519;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.941-48C>T,NM_003748.3:c.941-48C>T,NM_001161504.1:c.761-48C>T;ESP6500_MAF=27.4453,27.2146,27.3677;ESP6500_TAC=9111,3433	GT:AD:DP:GQ:PL	1/1:0,28:28:84:792,84,0
chr1	18877679	rs6426814	A	G	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.339;SOR=1.449;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6426814;dbSNPBuildID=116;ANN=G|sequence_feature|LOW|ALDH4A1|ALDH4A1|active-site:Proton_acceptor|NM_003748.3|protein_coding|9/14|c.941-67T>C||||||,G|sequence_feature|LOW|ALDH4A1|ALDH4A1|active-site:Proton_acceptor|NM_001319218.1|protein_coding|9/13|c.941-67T>C||||||,G|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|9/14|c.941-67T>C||||||,G|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|9/14|c.761-67T>C||||||,G|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|9/13|c.941-67T>C||||||,G|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|9/15|c.941-67T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4151;p3_1000G_AF=0.828874;p3_1000G_AFR_AF=0.9039;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=13852;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.7604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19204173;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,17:26:99:449,0,159
chr1	18881651	rs112548638	G	GGGTTGCCT	2338.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs112548638;dbSNPBuildID=132;ANN=GGGTTGCCT|downstream_gene_variant|MODIFIER|MIR4695|MIR4695|transcript|NR_039844.2|pseudogene||n.*1550_*1551insAGGCAACC|||||1550|,GGGTTGCCT|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|8/14|c.866+48_866+49insAGGCAACC||||||,GGGTTGCCT|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|8/14|c.686+48_686+49insAGGCAACC||||||,GGGTTGCCT|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|8/13|c.866+48_866+49insAGGCAACC||||||,GGGTTGCCT|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|8/15|c.866+48_866+49insAGGCAACC||||||;p3_1000G_AC=4923;p3_1000G_AF=0.983027;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17424;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19208145;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4013,245;ESP6500_AA_GTC=1904,205,20;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=30;ESP6500_EA_AC=8134,92;ESP6500_EA_GTC=4065,4,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:intron,NM_003748.3:intron,NM_001161504.1:intron;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18881651;ESP6500_GTC=5969,209,64;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.866+48_866+49insAGGCAACC,NM_003748.3:c.866+48_866+49insAGGCAACC,NM_001161504.1:c.686+48_686+49insAGGCAACC;ESP6500_MAF=1.1184,5.7539,2.6995;ESP6500_TAC=12147,337	GT:AD:DP:GQ:PL	1/1:0,48:48:99:2376,159,0
chr1	18883049	rs6426611	A	G	418.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.9;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426611;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|MIR4695|MIR4695|transcript|NR_039844.2|pseudogene||n.*153T>C|||||153|,G|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|7/14|c.678+75T>C||||||,G|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|7/14|c.498+75T>C||||||,G|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|7/13|c.678+75T>C||||||,G|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|7/15|c.678+75T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4848;p3_1000G_AF=0.968051;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=16598;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19209543;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:447,36,0
chr1	18889340	rs941495	T	C	903.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs941495;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_003748.3|protein_coding|3/14|c.249+22A>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001161504.1|protein_coding|3/14|c.69+22A>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_001319218.1|protein_coding|3/13|c.249+22A>G||||||,C|intron_variant|MODIFIER|ALDH4A1|ALDH4A1|transcript|NM_170726.2|protein_coding|3/15|c.249+22A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4930;p3_1000G_AF=0.984425;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=18610;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19215834;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4147,29;ESP6500_AA_GTC=2059,29,0;ESP6500_CDS_SIZES=NM_170726.2:1692,NM_003748.3:1692,NM_001161504.1:1512;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=64;ESP6500_EA_AC=7838,312;ESP6500_EA_GTC=3769,300,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170726.2:intron,NM_003748.3:intron,NM_001161504.1:intron;ESP6500_GL=ALDH4A1;ESP6500_GRCh38_POSITION=1:18889340;ESP6500_GTC=5828,329,6;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_170726.2:c.249+22A>G,NM_003748.3:c.249+22A>G,NM_001161504.1:c.69+22A>G;ESP6500_MAF=3.8282,0.6944,2.7665;ESP6500_TAC=11985,341	GT:AD:DP:GQ:PL	1/1:0,30:30:90:932,90,0
chr1	18917095	rs3748586	A	G	642.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-1.134;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748586;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|IFFO2|IFFO2|transcript|NM_001136265.1|protein_coding|4/8|c.964-53T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2177;p3_1000G_AF=0.434704;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=16762;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.5964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19243589;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,23:44:99:671,0,597
chr1	18956487	rs1886768	A	C	45.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1886768;dbSNPBuildID=92;ANN=C|upstream_gene_variant|MODIFIER|IFFO2|IFFO2|transcript|NM_001136265.1|protein_coding||c.-155T>G|||||155|,C|intergenic_region|MODIFIER|IFFO2-UBR4|IFFO2-UBR4|intergenic_region|IFFO2-UBR4|||n.18956487A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4980;p3_1000G_AF=0.994409;p3_1000G_AFR_AF=0.9849;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=4905;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19282981;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:73,6,0
chr1	19074911	rs2281748	G	A	524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.939;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.046;SOR=0.483;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2281748;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|105/105|c.15488-15C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1939;p3_1000G_AF=0.387181;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=18128;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.4145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19401405;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=958,3448;ESP6500_AA_AGE=360.6+/-315.3;ESP6500_AA_GTC=103,752,1348;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=63;ESP6500_EA_AC=3404,5196;ESP6500_EA_AGE=499.0+/-374.9;ESP6500_EA_GTC=682,2040,1578;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19074911;ESP6500_GTC=785,2792,2926;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.15488-15C>T;ESP6500_MAF=39.5814,21.7431,33.5384;ESP6500_TAC=4362,8644	GT:AD:DP:GQ:PL	0/1:18,22:40:99:553,0,492
chr1	19076647	rs571034707	C	T	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.877;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.917;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.833;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|105/105|c.15487+93G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19410;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19403141;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,9:24:99:259,0,490
chr1	19081800	rs67232976	G	GC	2472.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=0.887;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs67232976;dbSNPBuildID=137;ANN=GC|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|102/105|c.15009-228dupG||||||;p3_1000G_AA=CCCCC|CCCC|CCCCC|deletion;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.3351;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=18797;p3_1000G_EAS_AF=0.3611;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19408294;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2510,232,0
chr1	19081836	rs16862515	T	C	820.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.443;SOR=0.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16862515;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|102/105|c.15009-263A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=132;p3_1000G_AF=0.0263578;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=19622;p3_1000G_EAS_AF=0.0585;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19408330;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,32:64:99:849,0,769
chr1	19081886	rs12164540	T	C	928.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12164540;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|102/105|c.15009-313A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1875;p3_1000G_AF=0.374401;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=20496;p3_1000G_EAS_AF=0.3631;p3_1000G_EUR_AF=0.4135;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19408380;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:957,87,0
chr1	19084635	rs1043905	A	G	2461.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1043905;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|UBR4|UBR4|transcript|NM_020765.2|protein_coding|102/106|c.14877T>C|p.His4959His|14881/15882|14877/15552|4959/5183||;p3_1000G_AA=G|||;p3_1000G_AC=3600;p3_1000G_AF=0.71885;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=20961;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19411129;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3554,852;ESP6500_AA_AGE=335.7+/-304.0;ESP6500_AA_GTC=1433,688,82;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=110;ESP6500_EA_AC=5179,3421;ESP6500_EA_AGE=504.5+/-376.2;ESP6500_EA_GTC=1573,2033,694;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:coding-synonymous;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19084635;ESP6500_GTC=3006,2721,776;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.14877T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020765.2:p.(H4959);ESP6500_MAF=39.7791,19.3373,32.8541;ESP6500_TAC=8733,4273	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2490,234,0
chr1	19086767	rs12584	T	A	1717.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=0.96;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12584;dbSNPBuildID=52;ANN=A|missense_variant|MODERATE|UBR4|UBR4|transcript|NM_020765.2|protein_coding|100/106|c.14599A>T|p.Met4867Leu|14603/15882|14599/15552|4867/5183||;p3_1000G_AA=T|||;p3_1000G_AC=3012;p3_1000G_AF=0.601438;p3_1000G_AFR_AF=0.5408;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=19614;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.5785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19413261;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2416,1990;ESP6500_AA_AGE=616.8+/-392.8;ESP6500_AA_GTC=670,1076,457;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=119;ESP6500_EA_AC=4866,3734;ESP6500_EA_AGE=618.1+/-396.7;ESP6500_EA_GTC=1393,2080,827;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020765.2:missense;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19086767;ESP6500_GS=15;ESP6500_GTC=2063,3156,1284;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.14599A>T;ESP6500_HGVS_PROTEIN_VAR=NM_020765.2:p.(M4867L);ESP6500_MAF=43.4186,45.1657,44.0105;ESP6500_PH=benign:0.0;ESP6500_TAC=7282,5724	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1746,171,0
chr1	19086926	rs2274008	T	G	747.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274008;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|99/105|c.14545-105A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3597;p3_1000G_AF=0.718251;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=19574;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19413420;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:776,63,0
chr1	19088810	rs1043899	C	T	825.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1043899;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|UBR4|UBR4|transcript|NM_020765.2|protein_coding|98/106|c.14379G>A|p.Lys4793Lys|14383/15882|14379/15552|4793/5183||;p3_1000G_AA=C|||;p3_1000G_AC=2964;p3_1000G_AF=0.591853;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=20830;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.5775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19415304;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2322,2084;ESP6500_AA_AGE=604.4+/-390.3;ESP6500_AA_GTC=622,1078,503;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=86;ESP6500_EA_AC=4865,3735;ESP6500_EA_AGE=618.1+/-396.7;ESP6500_EA_GTC=1393,2079,828;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:coding-synonymous;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19088810;ESP6500_GTC=2015,3157,1331;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.14379G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020765.2:p.(K4793);ESP6500_MAF=43.4302,47.2991,44.7409;ESP6500_TAC=7187,5819	GT:AD:DP:GQ:PL	1/1:0,27:27:81:854,81,0
chr1	19093898	rs1106839	G	A	519.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1106839;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|95/105|c.13937+51C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3576;p3_1000G_AF=0.714058;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=23127;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19420392;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3497,909;ESP6500_AA_AGE=341.8+/-306.9;ESP6500_AA_GTC=1391,715,97;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=34;ESP6500_EA_AC=5171,3429;ESP6500_EA_AGE=495.8+/-374.1;ESP6500_EA_GTC=1567,2037,696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19093898;ESP6500_GTC=2958,2752,793;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.13937+51C>T;ESP6500_MAF=39.8721,20.631,33.3538;ESP6500_TAC=8668,4338	GT:AD:DP:GQ:PL	1/1:0,16:16:48:548,48,0
chr1	19095566	rs2236378	G	A	828.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.927;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=1.986;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.184;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236378;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|UBR4|UBR4|transcript|NM_020765.2|protein_coding|93/106|c.13605C>T|p.Val4535Val|13609/15882|13605/15552|4535/5183||;p3_1000G_AA=G|||;p3_1000G_AC=131;p3_1000G_AF=0.0261581;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=22565;p3_1000G_EAS_AF=0.0585;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19422060;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=71,4335;ESP6500_AA_AGE=65.3+/-102.7;ESP6500_AA_GTC=0,71,2132;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=147;ESP6500_EA_AC=5,8595;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=0,5,4295;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020765.2:coding-synonymous;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19095566;ESP6500_GTC=0,76,6427;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.13605C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020765.2:p.(V4535);ESP6500_MAF=0.0581,1.6114,0.5843;ESP6500_TAC=76,12930	GT:AD:DP:GQ:PL	0/1:33,36:69:99:857,0,885
chr1	19097071	rs2296105	T	C	260.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296105;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|91/105|c.13390+122A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3027;p3_1000G_AF=0.604433;p3_1000G_AFR_AF=0.553;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=15110;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19423565;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:289,21,0
chr1	19099705	rs2236377	G	A	957.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236377;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|89/105|c.13222-28C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3577;p3_1000G_AF=0.714257;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=21261;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19426199;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3496,910;ESP6500_AA_AGE=350.3+/-310.7;ESP6500_AA_GTC=1389,718,96;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=3.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=66;ESP6500_EA_AC=5171,3429;ESP6500_EA_AGE=504.3+/-376.1;ESP6500_EA_GTC=1566,2039,695;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19099705;ESP6500_GTC=2955,2757,791;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.13222-28C>T;ESP6500_MAF=39.8721,20.6537,33.3615;ESP6500_TAC=8667,4339	GT:AD:DP:GQ:PL	1/1:0,29:29:87:986,87,0
chr1	19105642	rs74969800	C	T	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.098;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=2.93;SOR=2.336;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74969800;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|84/105|c.12503+91G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20085;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19432136;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:350,0,330
chr1	19105668	rs140457453	C	CG	323.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.005;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.211;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.239;SOR=0.302;INS;HET;VARTYPE=INS;dbSNP138_ID=rs140457453;dbSNPBuildID=134;ANN=CG|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|84/105|c.12503+64dupC||||||;p3_1000G_AA=?|GGGG|GGGGG|unsure;p3_1000G_AC=108;p3_1000G_AF=0.0215655;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=20540;p3_1000G_EAS_AF=0.0585;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19432162;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:17,14:31:99:361,0,461
chr1	19106955	rs6426677	A	G	1359.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=2.133;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426677;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|UBR4|UBR4|transcript|NM_020765.2|protein_coding|82/106|c.12117T>C|p.Val4039Val|12121/15882|12117/15552|4039/5183||;p3_1000G_AA=G|||;p3_1000G_AC=3602;p3_1000G_AF=0.719249;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=18352;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19433449;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3555,851;ESP6500_AA_AGE=335.2+/-303.8;ESP6500_AA_GTC=1434,687,82;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=5182,3418;ESP6500_EA_AGE=503.2+/-375.9;ESP6500_EA_GTC=1576,2030,694;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:coding-synonymous;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19106955;ESP6500_GTC=3010,2717,776;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.12117T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020765.2:p.(V4039);ESP6500_MAF=39.7442,19.3146,32.8233;ESP6500_TAC=8737,4269	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1388,117,0
chr1	19113613	rs9661719	A	G	196.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9661719;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|77/105|c.11457+86T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3570;p3_1000G_AF=0.712859;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=20807;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19440107;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:225,18,0
chr1	19114718	rs2274003	A	G	843.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.92;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274003;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|75/105|c.11202+93T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3326;p3_1000G_AF=0.664137;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=19992;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.6054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19441212;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:872,66,0
chr1	19121349	rs1044010	C	G	2539.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1044010;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|UBR4|UBR4|transcript|NM_020765.2|protein_coding|68/106|c.9981G>C|p.Leu3327Leu|9985/15882|9981/15552|3327/5183||;p3_1000G_AA=C|||;p3_1000G_AC=3007;p3_1000G_AF=0.600439;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=8659;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.5775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19447843;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2419,1987;ESP6500_AA_AGE=616.9+/-392.9;ESP6500_AA_GTC=670,1079,454;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=65;ESP6500_EA_AC=4866,3734;ESP6500_EA_AGE=618.0+/-396.7;ESP6500_EA_GTC=1392,2082,826;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:coding-synonymous;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19121349;ESP6500_GTC=2062,3161,1280;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.9981G>C;ESP6500_HGVS_PROTEIN_VAR=NM_020765.2:p.(L3327);ESP6500_MAF=43.4186,45.0976,43.9874;ESP6500_TAC=7285,5721	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2568,210,0
chr1	19121832	rs6681662	C	T	492.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.8;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6681662;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|67/105|c.9895+102G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3170;p3_1000G_AF=0.632987;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=20524;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.5944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19448326;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:521,48,0
chr1	19122114	rs7535738	C	G	488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7535738;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|66/105|c.9817-102G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3327;p3_1000G_AF=0.664337;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=20442;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19448608;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:517,39,0
chr1	19127593	rs2274002	C	T	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.809;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.174;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274002;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|63/105|c.9228+30G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=102;p3_1000G_AF=0.0203674;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=20505;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19454087;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,4403;ESP6500_AA_AGE=6.2+/-15.9;ESP6500_AA_GTC=0,3,2200;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=189;ESP6500_EA_AC=4,8596;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=0,4,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19127593;ESP6500_GTC=0,7,6496;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.9228+30G>A;ESP6500_MAF=0.0465,0.0681,0.0538;ESP6500_TAC=7,12999	GT:AD:DP:GQ:PL	0/1:14,10:24:99:263,0,430
chr1	19139293	rs78300712	C	A	161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.385;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78300712;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|58/105|c.8594-73G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=136;p3_1000G_AF=0.0271565;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=22102;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19465787;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:62:190,0,62
chr1	19144894	rs2274000	A	G	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.69;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.08;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274000;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|UBR4|UBR4|transcript|NM_020765.2|protein_coding|54/106|c.7959T>C|p.Ile2653Ile|7963/15882|7959/15552|2653/5183||;p3_1000G_AA=A|||;p3_1000G_AC=532;p3_1000G_AF=0.10623;p3_1000G_AFR_AF=0.2905;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=19725;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19471388;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1132,3274;ESP6500_AA_AGE=404.4+/-333.1;ESP6500_AA_GTC=151,830,1222;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=126;ESP6500_EA_AC=28,8572;ESP6500_EA_AGE=18.5+/-59.3;ESP6500_EA_GTC=0,28,4272;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:coding-synonymous;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19144894;ESP6500_GTC=151,858,5494;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.7959T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020765.2:p.(I2653);ESP6500_MAF=0.3256,25.6922,8.919;ESP6500_TAC=1160,11846	GT:AD:DP:GQ:PL	0/1:17,13:30:99:398,0,437
chr1	19148481	rs2296108	T	G	1139.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296108;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|50/105|c.7494+82A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2588;p3_1000G_AF=0.516773;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=18978;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.4125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19474975;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1168,102,0
chr1	19156216	.	G	C	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.829;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=-1.258;SOR=1.179;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|42/105|c.6072+55C>G||||||	GT:AD:DP:GQ:PL	0/1:7,11:18:99:406,0,249
chr1	19156706	rs77259868	G	A	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.029;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.129;SOR=0.459;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77259868;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|41/105|c.5919+61C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=132;p3_1000G_AF=0.0263578;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=20013;p3_1000G_EAS_AF=0.0585;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19483200;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,10:25:99:0|1:19156706_G_A:257,0,385
chr1	19156715	rs10799710	A	G	1013.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10799710;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|41/105|c.5919+52T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2833;p3_1000G_AF=0.565695;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=19805;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.4414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19483209;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5204;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=920,832;ESP6500_AA_GTC=235,450,191;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=1766,2216;ESP6500_EA_GTC=401,964,626;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19156715;ESP6500_GTC=636,1414,817;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.5919+52T>C;ESP6500_MAF=44.3496,47.4886,46.8434;ESP6500_TAC=2686,3048	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:19156706_G_A:1042,81,0
chr1	19160345	rs946419	T	C	254.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs946419;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|38/105|c.5407-64A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3591;p3_1000G_AF=0.717053;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=20064;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19486839;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:283,27,0
chr1	19160877	rs16862575	G	A	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.155;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=-0.345;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16862575;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|38/105|c.5406+40C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=117;p3_1000G_AF=0.0233626;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=20112;p3_1000G_EAS_AF=0.0585;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19487371;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=42,4364;ESP6500_AA_AGE=44.6+/-78.6;ESP6500_AA_GTC=0,42,2161;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=25;ESP6500_EA_AC=4,8596;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,4,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19160877;ESP6500_GTC=0,46,6457;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.5406+40C>T;ESP6500_MAF=0.0465,0.9532,0.3537;ESP6500_TAC=46,12960	GT:AD:DP:GQ:PL	0/1:5,11:16:99:314,0,164
chr1	19161162	rs3748759	T	C	859.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748759;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|37/105|c.5176-15A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2816;p3_1000G_AF=0.5623;p3_1000G_AFR_AF=0.5197;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=20163;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.4294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19487656;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2331,2075;ESP6500_AA_AGE=603.1+/-390.1;ESP6500_AA_GTC=609,1113,481;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=31;ESP6500_EA_AC=3698,4902;ESP6500_EA_AGE=525.9+/-380.8;ESP6500_EA_GTC=806,2086,1408;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19161162;ESP6500_GTC=1415,3199,1889;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.5176-15A>G;ESP6500_MAF=43.0,47.0949,46.3555;ESP6500_TAC=6029,6977	GT:AD:DP:GQ:PL	1/1:0,28:28:84:888,84,0
chr1	19161999	rs3748758	A	C	411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748758;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|35/105|c.4957-102T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2591;p3_1000G_AF=0.517372;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=15974;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.4125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19488493;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:440,36,0
chr1	19162345	rs1999967	C	A	380.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.62;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1999967;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|35/105|c.4956+75G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3567;p3_1000G_AF=0.71226;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=20013;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19488839;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:409,33,0
chr1	19165363	rs3748757	T	C	330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748757;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|30/105|c.4212-14A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3596;p3_1000G_AF=0.718051;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=18025;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19491857;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3554,852;ESP6500_AA_GTC=1432,690,81;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=94;ESP6500_EA_AC=5184,3416;ESP6500_EA_GTC=1574,2036,690;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19165363;ESP6500_GTC=3006,2726,771;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.4212-14A>G;ESP6500_MAF=39.7209,19.3373,32.8156;ESP6500_TAC=8738,4268	GT:AD:DP:GQ:PL	1/1:0,11:11:33:359,33,0
chr1	19173341	rs951908	G	C	1863.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.9;SOR=1.157;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs951908;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|23/105|c.3166-35C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3567;p3_1000G_AF=0.71226;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=20011;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19499835;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3496,910;ESP6500_AA_AGE=350.5+/-310.9;ESP6500_AA_GTC=1388,720,95;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=73;ESP6500_EA_AC=5166,3434;ESP6500_EA_AGE=505.3+/-376.3;ESP6500_EA_GTC=1563,2040,697;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19173341;ESP6500_GTC=2951,2760,792;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.3166-35C>G;ESP6500_MAF=39.9302,20.6537,33.4;ESP6500_TAC=8662,4344	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1892,150,0
chr1	19174235	rs6694521	G	A	445.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6694521;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|22/105|c.2982+84C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3567;p3_1000G_AF=0.71226;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=20907;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19500729;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:474,45,0
chr1	19177806	rs2066002	G	A	892.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.52;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=-0.389;SOR=0.788;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2066002;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|18/105|c.2355-63C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1668;p3_1000G_AF=0.333067;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=21074;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.3042;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19504300;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,33:53:99:921,0,511
chr1	19183900	rs3762396	A	G	3118.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.65;SOR=1.046;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3762396;dbSNPBuildID=107;ANN=G|splice_region_variant&intron_variant|LOW|UBR4|UBR4|transcript|NM_020765.2|protein_coding|16/105|c.2099-4T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3590;p3_1000G_AF=0.716853;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=20353;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19510394;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3558,848;ESP6500_AA_AGE=334.7+/-303.5;ESP6500_AA_GTC=1436,686,81;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=75;ESP6500_EA_AC=5178,3422;ESP6500_EA_AGE=504.5+/-376.2;ESP6500_EA_GTC=1572,2034,694;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19183900;ESP6500_GTC=3008,2720,775;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.2099-4T>C;ESP6500_MAF=39.7907,19.2465,32.831;ESP6500_TAC=8736,4270	GT:AD:DP:GQ:PL	1/1:0,90:90:99:3147,270,0
chr1	19185409	.	A	G	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.652;SOR=0.495;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|14/105|c.1751-123T>C||||||	GT:AD:DP:GQ:PL	0/1:4,3:7:99:106,0,126
chr1	19192165	rs11588032	G	A	273.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11588032;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|11/105|c.1394+23C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2443;p3_1000G_AF=0.487819;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=19220;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.4105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19518659;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1925,2477;ESP6500_AA_GTC=441,1043,717;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=3398,5196;ESP6500_EA_GTC=700,1998,1599;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19192165;ESP6500_GTC=1141,3041,2316;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.1394+23C>T;ESP6500_MAF=39.5392,43.7301,40.9588;ESP6500_TAC=5323,7673	GT:AD:DP:GQ:PL	1/1:0,9:9:27:302,27,0
chr1	19193393	rs72651403	G	C	966.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.947;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=3.704;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.242;SOR=1.35;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72651403;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|UBR4|UBR4|transcript|NM_020765.2|protein_coding|9/105|c.1143+40C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1700;p3_1000G_AF=0.339457;p3_1000G_AFR_AF=0.1172;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=21410;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.3062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19519887;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=664,3742;ESP6500_AA_AGE=283.4+/-277.1;ESP6500_AA_GTC=48,568,1587;ESP6500_CDS_SIZES=NM_020765.2:15552;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=161;ESP6500_EA_AC=2490,6110;ESP6500_EA_AGE=409.2+/-349.7;ESP6500_EA_GTC=368,1754,2178;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020765.2:intron;ESP6500_GL=UBR4;ESP6500_GRCh38_POSITION=1:19193393;ESP6500_GTC=416,2322,3765;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020765.2:c.1143+40C>G;ESP6500_MAF=28.9535,15.0704,24.2503;ESP6500_TAC=3154,9852	GT:AD:DP:GQ:PL	0/1:31,34:65:99:995,0,887
chr1	19222487	rs12405382	C	T	838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12405382;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.174+11928C>T||||||,T|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|20/22|c.2587+137G>A||||||,T|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135115.1|pseudogene|1/1|n.175-7360C>T||||||,T|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|20/22|c.2584+137G>A||||||,T|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|20/22|c.2584+137G>A||||||,T|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|19/21|c.2521+137G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1654;p3_1000G_AF=0.330272;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=21556;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.2565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19548981;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:867,78,0
chr1	19222849	rs2073106	G	C	1319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2073106;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.174+12290G>C||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|19/22|c.2377-15C>G||||||,C|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135115.1|pseudogene|1/1|n.175-6998G>C||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|19/22|c.2374-15C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|19/22|c.2374-15C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|18/21|c.2311-15C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1670;p3_1000G_AF=0.333466;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=20028;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.2664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19549343;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=673,3733;ESP6500_AA_AGE=286.6+/-278.8;ESP6500_AA_GTC=51,571,1581;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=74;ESP6500_EA_AC=2176,6424;ESP6500_EA_AGE=371.0+/-336.1;ESP6500_EA_GTC=283,1610,2407;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015047.1:intron;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19222849;ESP6500_GTC=334,2181,3988;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.2377-15C>G;ESP6500_MAF=25.3023,15.2746,21.9053;ESP6500_TAC=2849,10157	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1348,135,0
chr1	19223370	rs2073105	T	C	1377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=2.356;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2073105;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.174+12811T>C||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|19/22|c.2376+26A>G||||||,C|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135115.1|pseudogene|1/1|n.175-6477T>C||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|19/22|c.2373+26A>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|19/22|c.2373+26A>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|18/21|c.2310+26A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1665;p3_1000G_AF=0.332468;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=20460;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.2614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19549864;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=665,3741;ESP6500_AA_AGE=266.5+/-267.3;ESP6500_AA_GTC=51,563,1589;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=178;ESP6500_EA_AC=2101,6499;ESP6500_EA_AGE=343.9+/-325.1;ESP6500_EA_GTC=265,1571,2464;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015047.1:intron;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19223370;ESP6500_GTC=316,2134,4053;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.2376+26A>G;ESP6500_MAF=24.4302,15.0931,21.2671;ESP6500_TAC=2766,10240	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1406,129,0
chr1	19230787	rs12128595	G	C	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.87;ReadPosRankSum=-0.474;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12128595;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135115.1|pseudogene||n.*624G>C|||||624|,C|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-9470G>C||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|17/22|c.2064+57C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|17/22|c.2061+57C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|17/22|c.2061+57C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|16/21|c.1998+57C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=521;p3_1000G_AF=0.104034;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=19570;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19557281;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,3:17:77:77,0,402
chr1	19231219	rs2275403	G	C	1202.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=2.012;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275403;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135115.1|pseudogene||n.*1056G>C|||||1056|,C|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-9038G>C||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|16/22|c.1944+42C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|16/22|c.1941+42C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|16/22|c.1941+42C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|15/21|c.1878+42C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3345;p3_1000G_AF=0.667931;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=18582;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19557713;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3617,789;ESP6500_AA_AGE=308.6+/-290.6;ESP6500_AA_GTC=1488,641,74;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=119;ESP6500_EA_AC=4522,4078;ESP6500_EA_AGE=552.2+/-386.1;ESP6500_EA_GTC=1203,2116,981;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015047.1:intron;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19231219;ESP6500_GTC=2691,2757,1055;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.1944+42C>G;ESP6500_MAF=47.4186,17.9074,37.4212;ESP6500_TAC=8139,4867	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1231,111,0
chr1	19238156	rs2073104	C	G	852.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.965;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.478;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.034;SOR=0.384;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2073104;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-2101C>G||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|10/22|c.1090-17G>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|10/22|c.1087-17G>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|10/22|c.1090-17G>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|9/21|c.1024-17G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1539;p3_1000G_AF=0.307308;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=18521;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19564650;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=529,3877;ESP6500_AA_AGE=242.1+/-252.3;ESP6500_AA_GTC=32,465,1706;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=2.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=92;ESP6500_EA_AC=1859,6741;ESP6500_EA_AGE=328.4+/-318.3;ESP6500_EA_GTC=209,1441,2650;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015047.1:intron;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19238156;ESP6500_GTC=241,1906,4356;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.1090-17G>C;ESP6500_MAF=21.6163,12.0064,18.3608;ESP6500_TAC=2388,10618	GT:AD:DP:GQ:PL	0/1:20,35:55:99:881,0,554
chr1	19238681	rs709681	T	C	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.4;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.58;SOR=2.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs709681;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-1576T>C||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|10/22|c.1089+114A>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|10/22|c.1086+114A>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|10/22|c.1089+114A>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|9/21|c.1023+114A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=974;p3_1000G_AF=0.194489;p3_1000G_AFR_AF=0.3782;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=20067;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19565175;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:193,0,293
chr1	19238844	rs709682	C	T	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.862;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.849;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.388;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs709682;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_015047.2|protein_coding|10/23|c.1040G>A|p.Ser347Asn|1090/6671|1040/2982|347/993||,T|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|10/23|c.1037G>A|p.Ser346Asn|1087/6668|1037/2979|346/992||,T|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|10/23|c.1040G>A|p.Ser347Asn|1090/6668|1040/2979|347/992||,T|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|9/22|c.974G>A|p.Ser325Asn|1024/6605|974/2916|325/971||,T|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-1413C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=852;p3_1000G_AF=0.170128;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=18740;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.1173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19565338;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1304,3102;ESP6500_AA_AGE=697.9+/-406.3;ESP6500_AA_GTC=204,896,1103;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=-0.3;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=129;ESP6500_EA_AC=1192,7408;ESP6500_EA_AGE=764.2+/-407.6;ESP6500_EA_GTC=96,1000,3204;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015047.1:missense;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19238844;ESP6500_GS=46;ESP6500_GTC=300,1896,4307;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.1040G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015047.1:p.(S347N);ESP6500_MAF=13.8605,29.596,19.1911;ESP6500_PH=benign:0.001;ESP6500_TAC=2496,10510	GT:AD:DP:GQ:PL	0/1:26,17:43:99:438,0,655
chr1	19238850	rs709683	C	G	1511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=1.556;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs709683;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_015047.2|protein_coding|10/23|c.1034G>C|p.Ser345Thr|1084/6671|1034/2982|345/993||,G|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|10/23|c.1031G>C|p.Ser344Thr|1081/6668|1031/2979|344/992||,G|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|10/23|c.1034G>C|p.Ser345Thr|1084/6668|1034/2979|345/992||,G|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|9/22|c.968G>C|p.Ser323Thr|1018/6605|968/2916|323/971||,G|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-1407C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2866;p3_1000G_AF=0.572284;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=18872;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.3469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19565344;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3012,1394;ESP6500_AA_AGE=458.0+/-351.8;ESP6500_AA_GTC=1047,918,238;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=5.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=121;ESP6500_EA_AC=3095,5505;ESP6500_EA_AGE=659.4+/-401.7;ESP6500_EA_GTC=566,1963,1771;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015047.1:missense;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19238850;ESP6500_GS=58;ESP6500_GTC=1613,2881,2009;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.1034G>C;ESP6500_HGVS_PROTEIN_VAR=NM_015047.1:p.(S345T);ESP6500_MAF=35.9884,31.6387,46.9553;ESP6500_PH=benign:0.0;ESP6500_TAC=6107,6899	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1540,126,0
chr1	19239802	rs2273046	T	C	3025.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=0.733;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273046;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-455T>C||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|8/22|c.954+16A>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|8/22|c.954+16A>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|8/22|c.954+16A>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|7/21|c.888+16A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2127;p3_1000G_AF=0.42472;p3_1000G_AFR_AF=0.438;p3_1000G_AMR_AF=0.4395;p3_1000G_AN=5008;p3_1000G_DP=21200;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19566296;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1794,2612;ESP6500_AA_AGE=530.3+/-372.9;ESP6500_AA_GTC=370,1054,779;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=1888,6712;ESP6500_EA_AGE=335.8+/-321.6;ESP6500_EA_GTC=217,1454,2629;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015047.1:intron;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19239802;ESP6500_GTC=587,2508,3408;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.954+16A>G;ESP6500_MAF=21.9535,40.7172,28.31;ESP6500_TAC=3682,9324	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3054,300,0
chr1	19239888	rs3850531	A	G	1371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.007;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=1.069;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.88;ReadPosRankSum=0.88;SOR=0.992;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3850531;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_015047.2|protein_coding|8/23|c.884T>C|p.Leu295Ser|934/6671|884/2982|295/993||,G|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|8/23|c.884T>C|p.Leu295Ser|934/6668|884/2979|295/992||,G|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|8/23|c.884T>C|p.Leu295Ser|934/6668|884/2979|295/992||,G|missense_variant|MODERATE|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|7/22|c.818T>C|p.Leu273Ser|868/6605|818/2916|273/971||,G|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-369A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=102;p3_1000G_AF=0.0203674;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=16528;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19566382;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=65;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015047.1:missense;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19239888;ESP6500_GS=145;ESP6500_GTC=0,2,6501;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.884T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015047.1:p.(L295S);ESP6500_MAF=0.0233,0.0,0.0154;ESP6500_PH=probably-damaging:0.979;ESP6500_TAC=2,13004	GT:AD:DP:GQ:PL	0/1:19,50:69:99:1400,0,415
chr1	19240133	rs710869	A	G	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.129;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.816;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.932;SOR=1.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs710869;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene|1/1|n.175-124A>G||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|7/22|c.787-148T>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|7/22|c.787-148T>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|7/22|c.787-148T>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|6/21|c.721-148T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=973;p3_1000G_AF=0.194289;p3_1000G_AFR_AF=0.3775;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=18939;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19566627;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,17:27:99:476,0,306
chr1	19242228	rs710866	G	C	356.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs710866;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene||n.*1524G>C|||||1524|,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|5/22|c.509+117C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|5/22|c.509+117C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|5/22|c.509+117C>G||||||,C|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|4/21|c.443+117C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2875;p3_1000G_AF=0.574081;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=21338;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.3519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19568722;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:385,27,0
chr1	19242478	rs710865	A	G	1098.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.29;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs710865;dbSNPBuildID=86;ANN=G|splice_region_variant&intron_variant|LOW|EMC1|EMC1|transcript|NM_015047.2|protein_coding|4/22|c.381-5T>C||||||,G|splice_region_variant&intron_variant|LOW|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|4/22|c.381-5T>C||||||,G|splice_region_variant&intron_variant|LOW|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|4/22|c.381-5T>C||||||,G|splice_region_variant&intron_variant|LOW|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|3/21|c.315-5T>C||||||,G|downstream_gene_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene||n.*1774A>G|||||1774|;p3_1000G_AA=G|||;p3_1000G_AC=2914;p3_1000G_AF=0.581869;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=22613;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.3509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19568972;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3139,1267;ESP6500_AA_AGE=432.4+/-343.3;ESP6500_AA_GTC=1129,881,193;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20171287;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=79;ESP6500_EA_AC=3133,5467;ESP6500_EA_AGE=657.0+/-401.4;ESP6500_EA_GTC=582,1969,1749;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015047.1:intron;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19242478;ESP6500_GTC=1711,2850,1942;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20171287;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.381-5T>C;ESP6500_MAF=36.4302,28.7562,48.2239;ESP6500_TAC=6272,6734	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1127,87,0
chr1	19243932	rs2294944	C	G	911.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.323;SOR=0.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294944;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene||n.*3228C>G|||||3228|,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|3/22|c.286+18G>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|3/22|c.286+18G>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|3/22|c.286+18G>C||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|2/21|c.221-225G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=599;p3_1000G_AF=0.119609;p3_1000G_AFR_AF=0.2216;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=19081;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19570426;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=889,3517;ESP6500_AA_AGE=336.3+/-304.3;ESP6500_AA_GTC=90,709,1404;ESP6500_CDS_SIZES=NM_015047.1:2982;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=74;ESP6500_EA_AC=980,7620;ESP6500_EA_AGE=206.2+/-248.4;ESP6500_EA_GTC=63,854,3383;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015047.1:intron;ESP6500_GL=EMC1;ESP6500_GRCh38_POSITION=1:19243932;ESP6500_GTC=153,1563,4787;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015047.1:c.286+18G>C;ESP6500_MAF=11.3953,20.177,14.3703;ESP6500_TAC=1869,11137	GT:AD:DP:GQ:PL	0/1:34,34:68:99:940,0,860
chr1	19244762	rs57014131;rs796894517	GA	G	67.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.889;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.64;ReadPosRankSum=-0.705;SOR=0.093;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs57014131;dbSNPBuildID=137,146;ANN=G|downstream_gene_variant|MODIFIER|LOC101927895|LOC101927895|transcript|NR_135114.1|pseudogene||n.*4059delA|||||4059|,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding|2/22|c.220+143delT||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding|2/22|c.220+143delT||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding|2/22|c.220+143delT||||||,G|intron_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding|2/21|c.220+143delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2132;p3_1000G_AF=0.425719;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=23363;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19571256;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,5:12:99:105,0,161
chr1	19251568	rs17523685	C	T	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.22;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0.756;SOR=0.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17523685;dbSNPBuildID=123;ANN=T|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding||c.-59G>A|||||9|,T|upstream_gene_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding||c.-268C>T|||||13|,T|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding||c.-59G>A|||||9|,T|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding||c.-59G>A|||||9|,T|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding||c.-59G>A|||||9|,T|intergenic_region|MODIFIER|EMC1-MRTO4|EMC1-MRTO4|intergenic_region|EMC1-MRTO4|||n.19251568C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=194;p3_1000G_AF=0.038738;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=13079;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19578062;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,23:37:99:638,0,487
chr1	19251672	rs117937930	G	A	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.202;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=6.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=-0.125;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117937930;dbSNPBuildID=132;ANN=A|5_prime_UTR_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|1/8|c.-164G>A|||||164|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding||c.-163C>T|||||113|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding||c.-163C>T|||||113|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding||c.-163C>T|||||113|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding||c.-163C>T|||||113|;p3_1000G_AA=G|||;p3_1000G_AC=10;p3_1000G_AF=0.00199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13257;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19578166;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:99:288,0,118
chr1	19251698	rs2294942	G	A	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.268;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.21;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294942;dbSNPBuildID=100;ANN=A|5_prime_UTR_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|1/8|c.-138G>A|||||138|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding||c.-189C>T|||||139|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding||c.-189C>T|||||139|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding||c.-189C>T|||||139|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding||c.-189C>T|||||139|;p3_1000G_AA=G|||;p3_1000G_AC=3232;p3_1000G_AF=0.645367;p3_1000G_AFR_AF=0.4198;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=13130;p3_1000G_EAS_AF=0.8264;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19578192;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:165,0,213
chr1	19254732	rs735026	G	A	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.847;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=0.366;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs735026;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding||c.-3223C>T|||||3173|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding||c.-3223C>T|||||3173|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding||c.-3223C>T|||||3173|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding||c.-3223C>T|||||3173|,A|intron_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|1/7|c.29-50G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1261;p3_1000G_AF=0.251797;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=19610;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.2266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19581226;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2090,2316;ESP6500_AA_AGE=603.5+/-390.1;ESP6500_AA_GTC=505,1080,618;ESP6500_CDS_SIZES=NM_016183.3:720;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=99;ESP6500_EA_AC=2105,6495;ESP6500_EA_AGE=715.9+/-406.1;ESP6500_EA_GTC=263,1579,2458;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016183.3:intron;ESP6500_GL=MRTO4;ESP6500_GRCh38_POSITION=1:19254732;ESP6500_GTC=768,2659,3076;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016183.3:c.29-50G>A;ESP6500_MAF=24.4767,47.4353,32.2543;ESP6500_TAC=4195,8811	GT:AD:DP:GQ:PL	0/1:5,4:9:99:103,0,148
chr1	19254948	rs112100063;rs3068118;rs529464146	G	GAA	139.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.676;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=9.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.22;SOR=3.611;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3068118,rs112100063;dbSNPBuildID=142,132,102;ANN=GAA|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding||c.-3441_-3440dupTT|||||3390|,GAA|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding||c.-3441_-3440dupTT|||||3390|,GAA|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding||c.-3441_-3440dupTT|||||3390|,GAA|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding||c.-3441_-3440dupTT|||||3390|,GAA|intron_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|2/7|c.87+119_87+120dupAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=971;p3_1000G_AF=0.19389;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=17920;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19581442;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,5:13:99:0|1:19254948_G_GAA:177,0,434
chr1	19254973	rs1774081	C	T	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.694;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=6.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.926;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1774081;dbSNPBuildID=89;ANN=T|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding||c.-3464G>A|||||3414|,T|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding||c.-3464G>A|||||3414|,T|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding||c.-3464G>A|||||3414|,T|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding||c.-3464G>A|||||3414|,T|intron_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|2/7|c.87+133C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1259;p3_1000G_AF=0.251398;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=17186;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19581467;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,5:13:99:0|1:19254948_G_GAA:211,0,407
chr1	19256069	rs1557133	G	A	1373.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=0.919;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1557133;dbSNPBuildID=88;ANN=A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_015047.2|protein_coding||c.-4560C>T|||||4510|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271427.1|protein_coding||c.-4560C>T|||||4510|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271428.1|protein_coding||c.-4560C>T|||||4510|,A|upstream_gene_variant|MODIFIER|EMC1|EMC1|transcript|NM_001271429.1|protein_coding||c.-4560C>T|||||4510|,A|intron_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|3/7|c.191+18G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4502;p3_1000G_AF=0.898962;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DP=17755;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.8549;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19582563;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4053,353;ESP6500_AA_AGE=176.2+/-205.4;ESP6500_AA_GTC=1870,313,20;ESP6500_CDS_SIZES=NM_016183.3:720;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=29;ESP6500_EA_AC=7201,1399;ESP6500_EA_AGE=262.1+/-284.2;ESP6500_EA_GTC=3008,1185,107;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016183.3:intron;ESP6500_GL=MRTO4;ESP6500_GRCh38_POSITION=1:19256069;ESP6500_GTC=4878,1498,127;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016183.3:c.191+18G>A;ESP6500_MAF=16.2674,8.0118,13.4707;ESP6500_TAC=11254,1752	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1402,139,0
chr1	19257190	rs1774074	C	T	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.625;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=4.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.168;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1774074;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|4/7|c.273+45C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1259;p3_1000G_AF=0.251398;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=18663;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19583684;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2091,2315;ESP6500_AA_AGE=596.6+/-388.7;ESP6500_AA_GTC=505,1081,617;ESP6500_CDS_SIZES=NM_016183.3:720;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=78;ESP6500_EA_AC=2103,6497;ESP6500_EA_AGE=713.1+/-405.9;ESP6500_EA_GTC=263,1577,2460;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016183.3:intron;ESP6500_GL=MRTO4;ESP6500_GRCh38_POSITION=1:19257190;ESP6500_GTC=768,2658,3077;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016183.3:c.273+45C>T;ESP6500_MAF=24.4535,47.458,32.2467;ESP6500_TAC=4194,8812	GT:AD:DP:GQ:PL	0/1:22,24:46:99:618,0,614
chr1	19257231	rs1738017	T	C	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.119;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1738017;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|4/7|c.273+86T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1259;p3_1000G_AF=0.251398;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=17919;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19583725;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,19:34:99:523,0,573
chr1	19257240	rs4912057	G	A	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.899;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.848;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4912057;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|4/7|c.273+95G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3232;p3_1000G_AF=0.645367;p3_1000G_AFR_AF=0.4198;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=12409;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19583734;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,15:31:99:429,0,627
chr1	19257510	rs1042380	G	A	554.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.377;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.476;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1042380;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|5/8|c.330G>A|p.Glu110Glu|585/2273|330/720|110/239||;p3_1000G_AA=G|||;p3_1000G_AC=1259;p3_1000G_AF=0.251398;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=22095;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19584004;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2091,2315;ESP6500_AA_AGE=572.9+/-383.4;ESP6500_AA_GTC=505,1081,617;ESP6500_CDS_SIZES=NM_016183.3:720;ESP6500_CG=-3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=144;ESP6500_EA_AC=2104,6496;ESP6500_EA_AGE=363.1+/-333.0;ESP6500_EA_GTC=263,1578,2459;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016183.3:coding-synonymous;ESP6500_GL=MRTO4;ESP6500_GRCh38_POSITION=1:19257510;ESP6500_GTC=768,2659,3076;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016183.3:c.330G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016183.3:p.(E110);ESP6500_MAF=24.4651,47.458,32.2543;ESP6500_TAC=4195,8811	GT:AD:DP:GQ:PL	0/1:16,22:38:99:583,0,383
chr1	19258619	rs1488011634	G	GC	755.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=1.52;SOR=0.854;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=GC|intron_variant|MODIFIER|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|7/7|c.571-56dupC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:44,32:76:99:793,0,1132
chr1	19258713	rs2294939	G	A	842.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.28;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-1.484;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294939;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|MRTO4|MRTO4|transcript|NM_016183.3|protein_coding|8/8|c.603G>A|p.Lys201Lys|858/2273|603/720|201/239||;p3_1000G_AA=.|||;p3_1000G_AC=547;p3_1000G_AF=0.109225;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=19401;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.1262;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19585207;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=455,3951;ESP6500_AA_AGE=215.8+/-234.7;ESP6500_AA_GTC=22,411,1770;ESP6500_CDS_SIZES=NM_016183.3:720;ESP6500_CG=-2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=108;ESP6500_EA_AC=1239,7361;ESP6500_EA_AGE=248.3+/-276.0;ESP6500_EA_GTC=102,1035,3163;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016183.3:coding-synonymous;ESP6500_GL=MRTO4;ESP6500_GRCh38_POSITION=1:19258713;ESP6500_GTC=124,1446,4933;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016183.3:c.603G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016183.3:p.(K201);ESP6500_MAF=14.407,10.3268,13.0248;ESP6500_TAC=1694,11312	GT:AD:DP:GQ:PL	0/1:50,36:86:99:871,0,1371
chr1	19268643	rs2235795	C	T	686.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.672;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.092;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.712;SOR=0.922;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235795;dbSNPBuildID=98;ANN=T|non_coding_transcript_exon_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040288.1|pseudogene|6/7|n.763G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040289.1|pseudogene|4/5|n.566G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3331;p3_1000G_AF=0.665136;p3_1000G_AFR_AF=0.3964;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=16175;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.6918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19595137;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1928,2478;ESP6500_AA_AGE=549.3+/-377.7;ESP6500_AA_GTC=420,1088,695;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=81;ESP6500_EA_AC=5724,2876;ESP6500_EA_AGE=672.7+/-403.0;ESP6500_EA_GTC=1925,1874,501;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:19268643;ESP6500_GTC=2345,2962,1196;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=33.4419,43.7585,41.1656;ESP6500_TAC=7652,5354	GT:AD:DP:GQ:PL	0/1:22,27:49:99:715,0,633
chr1	19269398	rs6665423	G	A	741.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.034;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-0.221;SOR=1.143;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6665423;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040288.1|pseudogene|4/6|n.605-27C>T||||||,A|intron_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040289.1|pseudogene|3/4|n.508-697C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3336;p3_1000G_AF=0.666134;p3_1000G_AFR_AF=0.3986;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=15800;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19595892;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=604,780;ESP6500_AA_GTC=133,338,221;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=40;ESP6500_EA_AC=2111,1071;ESP6500_EA_GTC=724,663,204;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:19269398;ESP6500_GTC=857,1001,425;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=33.6581,43.6416,40.5388;ESP6500_TAC=2715,1851	GT:AD:DP:GQ:PL	0/1:18,24:42:99:770,0,554
chr1	19269630	rs2235794	C	T	621.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.462;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.555;SOR=0.852;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235794;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040289.1|pseudogene|3/4|n.507+821G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040288.1|pseudogene|4/7|n.557G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3330;p3_1000G_AF=0.664936;p3_1000G_AFR_AF=0.3964;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=17409;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.6918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19596124;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8108;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=601,783;ESP6500_AA_GTC=133,335,224;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=84;ESP6500_EA_AC=2111,1071;ESP6500_EA_GTC=724,663,204;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:19269630;ESP6500_GTC=857,998,428;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=33.6581,43.4249,40.6045;ESP6500_TAC=2712,1854	GT:AD:DP:GQ:PL	0/1:26,26:52:99:650,0,633
chr1	19269662	rs6665756	G	T	680.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.345;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.054;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-2.507;SOR=0.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6665756;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040289.1|pseudogene|3/4|n.507+789C>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040288.1|pseudogene|4/7|n.525C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3335;p3_1000G_AF=0.665935;p3_1000G_AFR_AF=0.3986;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=17408;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19596156;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=604,780;ESP6500_AA_GTC=133,338,221;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=79;ESP6500_EA_AC=2111,1071;ESP6500_EA_GTC=724,663,204;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:19269662;ESP6500_GTC=857,1001,425;ESP6500_GTS=TT,TG,GG;ESP6500_MAF=33.6581,43.6416,40.5388;ESP6500_TAC=2715,1851	GT:AD:DP:GQ:PL	0/1:26,27:53:99:709,0,653
chr1	19270347	rs7536049	G	A	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.8;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.37;MQRankSum=-0.103;QD=10.92;ReadPosRankSum=-1.195;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7536049;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040288.1|pseudogene|3/6|n.507+104C>T||||||,A|intron_variant|MODIFIER|AKR7L|AKR7L|transcript|NR_040289.1|pseudogene|3/4|n.507+104C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=4351;p3_1000G_AF=0.86881;p3_1000G_AFR_AF=0.9221;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=19700;p3_1000G_EAS_AF=0.7966;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19596841;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8538;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,13:28:99:334,0,448
chr1	19282760	rs1738025	T	C	1289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.13;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=4.17;MLEAC=1;MLEAF=0.5;MQ=58.5;MQRankSum=-1.627;QD=13.58;ReadPosRankSum=-0.016;SOR=0.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1738025;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|AKR7A3|AKR7A3|transcript|NM_012067.2|protein_coding|7/7|c.967A>G|p.Thr323Ala|1044/1241|967/996|323/331||,C|sequence_feature|LOW|AKR7A3|AKR7A3|helix:combinatorial_evidence_used_in_manual_assertion|NM_012067.2|protein_coding|7/7|c.967A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4164;p3_1000G_AF=0.83147;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=16255;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.8499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19609254;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3284,1114;ESP6500_AA_AGE=397.0+/-330.2;ESP6500_AA_GTC=1256,772,171;ESP6500_CDS_SIZES=NM_012067.2:996;ESP6500_CG=3.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=51;ESP6500_EA_AC=7078,1520;ESP6500_EA_AGE=285.4+/-297.1;ESP6500_EA_GTC=2926,1226,147;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012067.2:missense;ESP6500_GL=AKR7A3;ESP6500_GRCh38_POSITION=1:19282760;ESP6500_GS=58;ESP6500_GTC=4182,1998,318;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012067.2:c.967A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012067.2:p.(T323A);ESP6500_MAF=17.6785,25.3297,20.2678;ESP6500_PH=benign:0.0;ESP6500_TAC=10362,2634	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1318,0,1240
chr1	19283028	rs7512902	G	A	806.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.68;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=5.305;MLEAC=1;MLEAF=0.5;MQ=53.61;MQRankSum=0.289;QD=10.76;ReadPosRankSum=0.365;SOR=1.395;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140599506;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|AKR7A3|AKR7A3|transcript|NM_012067.2|protein_coding|6/6|c.835-136C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3738;p3_1000G_AF=0.746406;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs140599506;p3_1000G_DP=18660;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.8171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19609522;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:43,32:75:99:835,0,1189
chr1	19284747	rs1738023	T	C	1162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=-0.895;QD=14.01;ReadPosRankSum=-0.168;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1738023;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|AKR7A3|AKR7A3|transcript|NM_012067.2|protein_coding|5/7|c.643A>G|p.Asn215Asp|720/1241|643/996|215/331||,C|sequence_feature|LOW|AKR7A3|AKR7A3|turn:combinatorial_evidence_used_in_manual_assertion|NM_012067.2|protein_coding|5/7|c.643A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4045;p3_1000G_AF=0.807708;p3_1000G_AFR_AF=0.6415;p3_1000G_AMR_AF=0.8646;p3_1000G_AN=5008;p3_1000G_DP=16861;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.8579;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19611241;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2910,1488;ESP6500_AA_GTC=995,920,284;ESP6500_CDS_SIZES=NM_012067.2:996;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=121;ESP6500_EA_AC=7146,1454;ESP6500_EA_GTC=2975,1196,129;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012067.2:missense;ESP6500_GL=AKR7A3;ESP6500_GRCh38_POSITION=1:19284747;ESP6500_GS=23;ESP6500_GTC=3970,2116,413;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012067.2:c.643A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012067.2:p.(N215D);ESP6500_MAF=16.907,33.8336,22.6343;ESP6500_PH=benign:0.0;ESP6500_TAC=10056,2942	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1191,0,890
chr1	19285755	rs9660883	G	A	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.578;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.26;MQRankSum=-0.996;QD=17.43;ReadPosRankSum=0.652;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9660883;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|AKR7A3|AKR7A3|transcript|NM_012067.2|protein_coding|3/6|c.507+133C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4706;p3_1000G_AF=0.939696;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=18800;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.9245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19612249;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,15:25:99:464,0,315
chr1	19285983	rs2231198	C	T	833.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.563;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=4.761;MLEAC=1;MLEAF=0.5;MQ=59.96;MQRankSum=1.06;QD=11.58;ReadPosRankSum=-0.235;SOR=1.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2231198;dbSNPBuildID=123;ANN=T|missense_variant|MODERATE|AKR7A3|AKR7A3|transcript|NM_012067.2|protein_coding|3/7|c.412G>A|p.Val138Met|489/1241|412/996|138/331||;p3_1000G_AA=C|||;p3_1000G_AC=2320;p3_1000G_AF=0.463259;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=19169;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.3817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19612477;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1614,2784;ESP6500_AA_GTC=319,976,904;ESP6500_CDS_SIZES=NM_012067.2:996;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=55;ESP6500_EA_AC=3110,5490;ESP6500_EA_GTC=564,1982,1754;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012067.2:missense;ESP6500_GL=AKR7A3;ESP6500_GRCh38_POSITION=1:19285983;ESP6500_GS=21;ESP6500_GTC=883,2958,2658;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012067.2:c.412G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012067.2:p.(V138M);ESP6500_MAF=36.1628,36.6985,36.3441;ESP6500_PH=benign:0.375;ESP6500_TAC=4724,8274	GT:AD:DP:GQ:PL	0/1:35,37:72:99:862,0,915
chr1	19305838	rs3828102	T	C	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.38;ReadPosRankSum=1.83;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828102;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|AKR7A2|AKR7A2|transcript|NM_003689.3|protein_coding|6/6|c.918+180A>G||||||,C|intron_variant|MODIFIER|AKR7A2|AKR7A2|transcript|NM_001320979.1|protein_coding|5/5|c.813+180A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2316;p3_1000G_AF=0.46246;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=18768;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19632332;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:83:262,0,83
chr1	19311815	rs2227295	A	G	1612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2227295;dbSNPBuildID=98;ANN=G|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040125.1|protein_coding||c.-5863A>G|||||431|,G|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040126.1|protein_coding||c.-12849A>G|||||431|,G|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001287531.1|protein_coding||c.-13719A>G|||||431|,G|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_017765.2|protein_coding||c.-5863A>G|||||431|,G|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NR_109848.1|pseudogene||n.-431A>G|||||431|,G|intron_variant|MODIFIER|AKR7A2|AKR7A2|transcript|NM_003689.3|protein_coding|1/6|c.298+12T>C||||||,G|intron_variant|MODIFIER|AKR7A2|AKR7A2|transcript|NM_001320979.1|protein_coding|1/5|c.298+12T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3556;p3_1000G_AF=0.710064;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=9790;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.7217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19638309;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3517,791;ESP6500_AA_GTC=1451,615,88;ESP6500_CDS_SIZES=NM_003689.3:1080;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=16;ESP6500_EA_AC=6245,2207;ESP6500_EA_GTC=2338,1569,319;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003689.3:intron;ESP6500_GL=AKR7A2;ESP6500_GRCh38_POSITION=1:19311815;ESP6500_GTC=3789,2184,407;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003689.3:c.298+12T>C;ESP6500_MAF=26.1122,18.3612,23.4953;ESP6500_TAC=9762,2998	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1641,167,0
chr1	19312149	rs6143148	G	GCCGGGGGCC	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs6143148;dbSNPBuildID=125;ANN=GCCGGGGGCC|upstream_gene_variant|MODIFIER|AKR7A2|AKR7A2|transcript|NM_003689.3|protein_coding||c.-26_-25insGGCCCCCGG|||||4|,GCCGGGGGCC|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040125.1|protein_coding||c.-5529_-5528insCCGGGGGCC|||||96|,GCCGGGGGCC|upstream_gene_variant|MODIFIER|AKR7A2|AKR7A2|transcript|NM_001320979.1|protein_coding||c.-26_-25insGGCCCCCGG|||||4|,GCCGGGGGCC|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040126.1|protein_coding||c.-12515_-12514insCCGGGGGCC|||||96|,GCCGGGGGCC|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001287531.1|protein_coding||c.-13385_-13384insCCGGGGGCC|||||96|,GCCGGGGGCC|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_017765.2|protein_coding||c.-5529_-5528insCCGGGGGCC|||||96|,GCCGGGGGCC|upstream_gene_variant|MODIFIER|PQLC2|PQLC2|transcript|NR_109848.1|pseudogene||n.-97_-96insCCGGGGGCC|||||96|,GCCGGGGGCC|intergenic_region|MODIFIER|AKR7A2-PQLC2|AKR7A2-PQLC2|intergenic_region|AKR7A2-PQLC2|||n.19312149_19312150insCCGGGGGCC||||||;p3_1000G_AC=431;p3_1000G_AF=0.0860623;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=7393;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.1103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19638643;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=INDEL;ESP6500_AA_AC=4,676;ESP6500_AA_GTC=1,2,337;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=1;ESP6500_EA_AC=81,1471;ESP6500_EA_GTC=35,11,730;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:19312149;ESP6500_GTC=36,13,1067;ESP6500_GTS=A1A1,A1R,RR;ESP6500_MAF=5.2191,0.5882,3.8082;ESP6500_TAC=85,2147	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr1	19325638	rs214315	T	G	94.84	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.71;ReadPosRankSum=1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs214315;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040125.1|protein_coding|4/7|c.382+56T>G||||||,G|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040126.1|protein_coding|4/7|c.187+56T>G||||||,G|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001287531.1|protein_coding|4/7|c.49+56T>G||||||,G|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_017765.2|protein_coding|5/8|c.382+56T>G||||||,G|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NR_109848.1|pseudogene|5/9|n.734+56T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=11726;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.8559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19652132;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,3:4:18:1|0:19325636_T_TGGG:123,0,18
chr1	19325641	rs61077276;rs74347523	G	T	94.84	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.71;ReadPosRankSum=1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61077276;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040125.1|protein_coding|4/7|c.382+59G>T||||||,T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040126.1|protein_coding|4/7|c.187+59G>T||||||,T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001287531.1|protein_coding|4/7|c.49+59G>T||||||,T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_017765.2|protein_coding|5/8|c.382+59G>T||||||,T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NR_109848.1|pseudogene|5/9|n.734+59G>T||||||;p3_1000G_AC=1186;p3_1000G_AF=0.236821;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=12067;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19652135;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,3:4:18:1|0:19325636_T_TGGG:123,0,18
chr1	19326406	rs58790041	G	A	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.18;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=6.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=1.1;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58790041;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040125.1|protein_coding|5/7|c.525+19G>A||||||,A|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040126.1|protein_coding|5/7|c.330+19G>A||||||,A|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001287531.1|protein_coding|5/7|c.192+19G>A||||||,A|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_017765.2|protein_coding|6/8|c.525+19G>A||||||,A|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NR_109848.1|pseudogene|6/9|n.877+19G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=187;p3_1000G_AF=0.0373403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=15130;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19652900;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=10,4394;ESP6500_AA_GTC=0,10,2192;ESP6500_CDS_SIZES=NM_017765.2:876,NM_001040126.1:681,NM_001040125.1:876;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=22;ESP6500_EA_AC=31,8569;ESP6500_EA_GTC=0,31,4269;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017765.2:intron,NM_001040126.1:intron,NM_001040125.1:intron;ESP6500_GL=PQLC2;ESP6500_GRCh38_POSITION=1:19326406;ESP6500_GTC=0,41,6461;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017765.2:c.525+19G>A,NM_001040126.1:c.330+19G>A,NM_001040125.1:c.525+19G>A;ESP6500_MAF=0.3605,0.2271,0.3153;ESP6500_TAC=41,12963	GT:AD:DP:GQ:PL	0/1:17,10:27:99:293,0,547
chr1	19326681	rs2073095	C	T	395.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.456;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.634;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.128;SOR=0.21;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2073095;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040125.1|protein_coding|6/7|c.618+58C>T||||||,T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040126.1|protein_coding|6/7|c.423+58C>T||||||,T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001287531.1|protein_coding|6/7|c.285+58C>T||||||,T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_017765.2|protein_coding|7/8|c.618+58C>T||||||,T|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NR_109848.1|pseudogene|7/9|n.970+58C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=186;p3_1000G_AF=0.0371406;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=16055;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19653175;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,16:31:99:424,0,385
chr1	19327529	rs534714495	A	ATCCC	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=142;ANN=ATCCC|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040125.1|protein_coding|7/7|c.804+141_804+144dupCTCC||||||INFO_REALIGN_3_PRIME,ATCCC|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001040126.1|protein_coding|7/7|c.609+141_609+144dupCTCC||||||INFO_REALIGN_3_PRIME,ATCCC|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_001287531.1|protein_coding|7/7|c.471+141_471+144dupCTCC||||||INFO_REALIGN_3_PRIME,ATCCC|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NM_017765.2|protein_coding|8/8|c.804+141_804+144dupCTCC||||||INFO_REALIGN_3_PRIME,ATCCC|intron_variant|MODIFIER|PQLC2|PQLC2|transcript|NR_109848.1|pseudogene|8/9|n.1156+141_1156+144dupCTCC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0
chr1	19342741	rs12124843	A	G	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.057;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12124843;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|8/8|c.818+1617T>C||||||,G|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|9/9|c.*10+11T>C||||||,G|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|8/8|c.732+2446T>C||||||,G|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|8/8|c.731+1617T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1008;p3_1000G_AF=0.201278;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=14851;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19669235;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=306,1446;ESP6500_AA_GTC=28,250,598;ESP6500_CDS_SIZES=NM_004930.3:819,NM_001206540.1:834;ESP6500_CG=-0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=859,3123;ESP6500_EA_GTC=90,679,1222;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004930.3:intron,NM_001206540.1:intron;ESP6500_GL=CAPZB;ESP6500_GRCh38_POSITION=1:19342741;ESP6500_GTC=118,929,1820;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004930.3:c.731+1617T>C,NM_001206540.1:c.*21T>C;ESP6500_MAF=21.5721,17.4658,20.3174;ESP6500_TAC=1165,4569	GT:AD:DP:GQ:PL	0/1:10,9:19:99:248,0,234
chr1	19342925	rs75277751	C	T	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.138;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.268;SOR=0.355;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75277751;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|8/8|c.818+1433G>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|8/9|c.732-61G>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|8/8|c.732+2262G>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|8/8|c.731+1433G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=188;p3_1000G_AF=0.0375399;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=17577;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19669419;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,13:22:99:364,0,222
chr1	19356807	rs169957	G	T	952.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=1.839;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs169957;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|5/8|c.559-56C>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|5/9|c.472-56C>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|6/8|c.550-56C>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|5/8|c.472-56C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2393;p3_1000G_AF=0.477835;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=20453;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.4056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19683301;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:981,93,0
chr1	19356842	rs74922425	G	A	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.09;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=1.53;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74922425;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|5/8|c.559-91C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|5/9|c.472-91C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|6/8|c.550-91C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|5/8|c.472-91C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=178;p3_1000G_AF=0.0355431;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=18827;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19683336;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,16:24:99:454,0,261
chr1	19356861	rs879361601	CT	C	23.75	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.986;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=9.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=-1.02;SOR=0.023;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72294042;dbSNPBuildID=149;ANN=C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|5/8|c.559-111delA||||||,C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|5/9|c.472-111delA||||||,C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|6/8|c.550-111delA||||||,C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|5/8|c.472-111delA||||||	GT:AD:DP:GQ:PL	0/1:13,4:17:61:61,0,281
chr1	19357512	rs3748755	G	C	599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.553;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.388;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.48;SOR=1.286;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748755;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|5/9|c.468C>G|p.Gly156Gly|896/2091|468/906|156/301||,C|synonymous_variant|LOW|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|5/10|c.381C>G|p.Gly127Gly|584/1892|381/834|127/277||,C|synonymous_variant|LOW|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|6/9|c.459C>G|p.Gly153Gly|1081/2199|459/783|153/260||,C|synonymous_variant|LOW|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|5/9|c.381C>G|p.Gly127Gly|584/1779|381/819|127/272||;p3_1000G_AA=G|||;p3_1000G_AC=179;p3_1000G_AF=0.0357428;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=20141;p3_1000G_EAS_AF=0.129;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19684006;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=8,3902;ESP6500_AA_GTC=0,8,1947;ESP6500_CDS_SIZES=NM_004930.3:819,NM_001206540.1:834;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=89;ESP6500_EA_AC=26,8268;ESP6500_EA_GTC=0,26,4121;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004930.3:coding-synonymous,NM_001206540.1:coding-synonymous;ESP6500_GL=CAPZB;ESP6500_GRCh38_POSITION=1:19357512;ESP6500_GTC=0,34,6068;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004930.3:c.381C>G,NM_001206540.1:c.381C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004930.3:p.(G127),NM_001206540.1:p.(G127);ESP6500_MAF=0.3135,0.2046,0.2786;ESP6500_TAC=34,12170	GT:AD:DP:GQ:PL	0/1:21,22:43:99:628,0,618
chr1	19378748	rs541288275	G	A	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.44;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.189;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|3/8|c.303-95C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|3/9|c.216-95C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|4/8|c.294-95C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|3/8|c.216-95C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001313932.1|protein_coding|3/4|c.216-95C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=18650;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19705242;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:97:97,0,103
chr1	19385445	rs10753561	T	C	548.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.691;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.309;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10753561;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|3/8|c.302+60A>G||||||,C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|3/9|c.215+60A>G||||||,C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|4/8|c.293+60A>G||||||,C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|3/8|c.215+60A>G||||||,C|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001313932.1|protein_coding|3/4|c.215+60A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1361;p3_1000G_AF=0.271765;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=18292;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19711939;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,19:28:99:577,0,174
chr1	19448752	rs10442634	C	T	599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.397;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.35;ReadPosRankSum=0.786;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10442634;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|1/8|c.91-29002G>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|1/9|c.4-29002G>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|2/8|c.81+82G>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|1/8|c.4-29002G>A||||||,T|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001313932.1|protein_coding|1/4|c.4-29002G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1140;p3_1000G_AF=0.227636;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=20203;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19775246;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,22:31:99:628,0,280
chr1	19448881	rs79308175	G	A	824.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.756;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=6.429;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.968;SOR=0.49;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79308175;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|2/9|c.34C>T|p.Arg12Cys|656/2199|34/783|12/260||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|1/8|c.91-29131C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|1/9|c.4-29131C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|1/8|c.4-29131C>T||||||,A|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001313932.1|protein_coding|1/4|c.4-29131C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=446;p3_1000G_AF=0.0890575;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=20058;p3_1000G_EAS_AF=0.129;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19775375;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=218,1534;ESP6500_AA_GTC=13,192,671;ESP6500_CDS_SIZES=NM_004930.3:819,NM_001206540.1:834;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=68;ESP6500_EA_AC=121,3861;ESP6500_EA_GTC=1,119,1871;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004930.3:intron,NM_001206540.1:intron;ESP6500_GL=CAPZB;ESP6500_GRCh38_POSITION=1:19448881;ESP6500_GTC=14,311,2542;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004930.3:c.4-29131C>T,NM_001206540.1:c.4-29131C>T;ESP6500_MAF=3.0387,12.4429,5.9121;ESP6500_TAC=339,5395	GT:AD:DP:GQ:PL	0/1:32,34:66:99:853,0,827
chr1	19448998	rs10442635	A	G	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.24;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.933;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10442635;dbSNPBuildID=119;ANN=G|5_prime_UTR_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|2/9|c.-84T>C|||||84|,G|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|1/8|c.91-29248T>C||||||,G|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|1/9|c.4-29248T>C||||||,G|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|1/8|c.4-29248T>C||||||,G|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001313932.1|protein_coding|1/4|c.4-29248T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1181;p3_1000G_AF=0.235823;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=1197;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19775492;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,8:22:99:257,0,476
chr1	19484316	rs11450129	G	GC	642.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.517;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.794;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.187;SOR=1.209;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11450129;dbSNPBuildID=135;ANN=GC|5_prime_UTR_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001282162.1|protein_coding|1/9|c.-38dupG|||||38|,GC|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206540.2|protein_coding|1/9|c.3+1119dupG||||||,GC|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001206541.2|protein_coding|1/8|c.-417+1119dupG||||||,GC|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_004930.4|protein_coding|1/8|c.3+1119dupG||||||,GC|intron_variant|MODIFIER|CAPZB|CAPZB|transcript|NM_001313932.1|protein_coding|1/4|c.3+1119dupG||||||;p3_1000G_AA=CCCCCC|CCCCCC|CCCCCCC|insertion;p3_1000G_AC=773;p3_1000G_AF=0.154353;p3_1000G_AFR_AF=0.1256;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=17875;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.1064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19810810;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=INDEL;ESP6500_AA_AC=330,2344;ESP6500_AA_GTC=58,214,1065;ESP6500_CDS_SIZES=NM_004930.3:819,NM_001206540.1:834;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=13;ESP6500_EA_AC=694,4556;ESP6500_EA_GTC=120,454,2051;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004930.3:intron,NM_001206540.1:intron;ESP6500_GL=CAPZB;ESP6500_GRCh38_POSITION=1:19484316;ESP6500_GTC=178,668,3116;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004930.3:c.3+1119_3+1120insG,NM_001206540.1:c.3+1119_3+1120insG;ESP6500_MAF=13.219,12.3411,12.9228;ESP6500_TAC=1024,6900	GT:AD:DP:GQ:PL	0/1:26,27:53:99:680,0,650
chr1	19600704	rs840266	T	C	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.83;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs840266;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|LOC105378614|LOC105378614|transcript|NR_135054.1|pseudogene||n.-3872A>G|||||3872|,C|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001204083.1|protein_coding|1/4|c.64+3595T>C||||||,C|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|1/4|c.-162-83T>C||||||,C|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001032363.3|protein_coding|1/3|c.64+3595T>C||||||,C|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001204082.1|protein_coding|1/2|c.64+3595T>C||||||,C|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NR_033757.2|pseudogene|1/4|n.134-83T>C||||||,C|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NR_033758.2|pseudogene|1/4|n.133+3595T>C||||||,C|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|1/3|c.-20+3595T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=964;p3_1000G_AF=0.192492;p3_1000G_AFR_AF=0.5197;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=21601;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19927198;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:255,0,145
chr1	19601059	rs860847	C	A	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.19;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs860847;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|LOC105378614|LOC105378614|transcript|NR_135054.1|pseudogene||n.-4227G>T|||||4227|,A|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001204083.1|protein_coding|1/4|c.64+3950C>A||||||,A|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|2/4|c.23+88C>A||||||,A|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001032363.3|protein_coding|1/3|c.64+3950C>A||||||,A|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001204082.1|protein_coding|1/2|c.64+3950C>A||||||,A|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NR_033757.2|pseudogene|2/4|n.318+88C>A||||||,A|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NR_033758.2|pseudogene|1/4|n.133+3950C>A||||||,A|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|1/3|c.-20+3950C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=965;p3_1000G_AF=0.192692;p3_1000G_AFR_AF=0.5212;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=20434;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19927553;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:306,0,320
chr1	19622013	rs728611	A	G	993.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=4.406;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=-1.227;SOR=1.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs728611;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001204083.1|protein_coding|1/4|c.65-87A>G||||||,G|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|2/4|c.23+21042A>G||||||,G|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001032363.3|protein_coding|1/3|c.65-87A>G||||||,G|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NM_001204082.1|protein_coding|1/2|c.65-1461A>G||||||,G|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NR_033757.2|pseudogene|2/4|n.319-87A>G||||||,G|intron_variant|MODIFIER|MINOS1|MINOS1|transcript|NR_033758.2|pseudogene|2/4|n.213-87A>G||||||,G|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|1/3|c.-20+24904A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1734;p3_1000G_AF=0.346246;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=20322;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19948507;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,33:54:99:1022,0,429
chr1	19623568	rs1737428	T	C	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=-0.304;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1737428;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|MINOS1|MINOS1|transcript|NM_001204083.1|protein_coding|3/5|c.207T>C|p.His69His|276/3967|207/423|69/140||,C|synonymous_variant|LOW|MINOS1|MINOS1|transcript|NM_001032363.3|protein_coding|3/4|c.207T>C|p.His69His|276/3726|207/237|69/78||,C|synonymous_variant|LOW|MINOS1|MINOS1|transcript|NM_001204082.1|protein_coding|2/3|c.159T>C|p.His53His|228/3678|159/189|53/62||,C|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|2/4|c.23+22597T>C||||||,C|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|1/3|c.-20+26459T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MINOS1|MINOS1|transcript|NR_033757.2|pseudogene|4/5|n.461T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MINOS1|MINOS1|transcript|NR_033758.2|pseudogene|4/5|n.355T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1731;p3_1000G_AF=0.345647;p3_1000G_AFR_AF=0.705;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=19847;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19950062;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2865,1541;ESP6500_AA_AGE=484.9+/-360.2;ESP6500_AA_GTC=929,1007,267;ESP6500_CDS_SIZES=NM_001204089.1:546,NM_001204088.1:588,NM_001204083.1:423,NM_001204082.1:189,NM_001032363.3:237;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=117;ESP6500_EA_AC=1739,6861;ESP6500_EA_AGE=736.3+/-407.0;ESP6500_EA_GTC=208,1323,2769;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001204089.1:intron,NM_001204088.1:intron,NM_001204083.1:coding-synonymous,NM_001204082.1:coding-synonymous,NM_001032363.3:coding-synonymous;ESP6500_GL=MINOS1,C1orf151-NBL1;ESP6500_GRCh38_POSITION=1:19623568;ESP6500_GTC=1137,2330,3036;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001204089.1:c.-31462T>C,NM_001204088.1:c.23+22597T>C,NM_001204083.1:c.207T>C,NM_001204082.1:c.159T>C,NM_001032363.3:c.207T>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_001204083.1:p.(H69),NM_001204082.1:p.(H53),NM_001032363.3:p.(H69);ESP6500_MAF=20.2209,34.975,35.399;ESP6500_TAC=4604,8402	GT:AD:DP:GQ:PL	0/1:13,7:20:99:155,0,281
chr1	19646092	rs11810271	A	G	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.417;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11810271;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278166.1|protein_coding||c.-8939A>G|||||1518|,G|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|2/4|c.24-8920A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_182744.3|protein_coding|1/3|c.86+2695A>G||||||,G|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|1/3|c.-19-8920A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278164.1|protein_coding|1/3|c.-20+2714A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278165.1|protein_coding|1/3|c.-20+2467A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204084.2|protein_coding|1/3|c.-20+2138A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_005380.7|protein_coding|1/3|c.-20+1646A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204085.1|protein_coding|1/3|c.-20+562A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204086.2|protein_coding|1/3|c.83+59A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1998;p3_1000G_AF=0.398962;p3_1000G_AFR_AF=0.8593;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=16009;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19972586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:292,0,200
chr1	19654936	rs78065427	G	A	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.306;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.48;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78065427;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|2/4|c.24-76G>A||||||,A|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_182744.3|protein_coding|1/3|c.87-76G>A||||||,A|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|1/3|c.-19-76G>A||||||,A|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278164.1|protein_coding|1/3|c.-19-76G>A||||||,A|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278165.1|protein_coding|1/3|c.-19-76G>A||||||,A|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204084.2|protein_coding|1/3|c.-19-76G>A||||||,A|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_005380.7|protein_coding|1/3|c.-19-76G>A||||||,A|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204085.1|protein_coding|1/3|c.-19-76G>A||||||,A|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204086.2|protein_coding|1/3|c.84-76G>A||||||,A|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278166.1|protein_coding|1/3|c.-19-76G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=56;p3_1000G_AF=0.0111821;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=18092;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19981429;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,8:20:99:273,0,408
chr1	19654958	rs3828101	A	G	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.67;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.644;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828101;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|2/4|c.24-54A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_182744.3|protein_coding|1/3|c.87-54A>G||||||,G|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|1/3|c.-19-54A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278164.1|protein_coding|1/3|c.-19-54A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278165.1|protein_coding|1/3|c.-19-54A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204084.2|protein_coding|1/3|c.-19-54A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_005380.7|protein_coding|1/3|c.-19-54A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204085.1|protein_coding|1/3|c.-19-54A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204086.2|protein_coding|1/3|c.84-54A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278166.1|protein_coding|1/3|c.-19-54A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2168;p3_1000G_AF=0.432907;p3_1000G_AFR_AF=0.6172;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=17519;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19981451;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:482,0,430
chr1	19655298	rs2294630	A	G	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=3.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.189;SOR=1.15;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294630;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|3/4|c.213-26A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_182744.3|protein_coding|2/3|c.276-26A>G||||||,G|intron_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|2/3|c.171-26A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278164.1|protein_coding|2/3|c.171-26A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278165.1|protein_coding|2/3|c.171-26A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204084.2|protein_coding|2/3|c.171-26A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_005380.7|protein_coding|2/3|c.171-26A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204085.1|protein_coding|2/3|c.171-26A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204086.2|protein_coding|2/3|c.273-26A>G||||||,G|intron_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278166.1|protein_coding|2/3|c.171-26A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2283;p3_1000G_AF=0.455871;p3_1000G_AFR_AF=0.6997;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=17378;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.508;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19981791;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP;ESP6500_AA_AC=2897,1509;ESP6500_AA_AGE=479.2+/-358.4;ESP6500_AA_GTC=938,1021,244;ESP6500_CDS_SIZES=NM_182744.3:651,NM_005380.6:546,NM_001204089.1:546,NM_001204088.1:588,NM_001204086.2:648,NM_001204085.1:546,NM_001204084.2:546;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=115;ESP6500_EA_AC=4143,4457;ESP6500_EA_AGE=588.7+/-392.4;ESP6500_EA_GTC=998,2147,1155;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182744.3:intron,NM_005380.6:intron,NM_001204089.1:intron,NM_001204088.1:intron,NM_001204086.2:intron,NM_001204085.1:intron,NM_001204084.2:intron;ESP6500_GL=NBL1,C1orf151-NBL1;ESP6500_GRCh38_POSITION=1:19655298;ESP6500_GTC=1936,3168,1399;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182744.3:c.276-26A>G,NM_005380.6:c.171-26A>G,NM_001204089.1:c.171-26A>G,NM_001204088.1:c.213-26A>G,NM_001204086.2:c.273-26A>G,NM_001204085.1:c.171-26A>G,NM_001204084.2:c.171-26A>G;ESP6500_MAF=48.1744,34.2488,45.8711;ESP6500_TAC=7040,5966	GT:AD:DP:GQ:PL	0/1:39,23:62:99:567,0,1044
chr1	19657141	rs3748747	C	T	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.278;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=-0.191;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748747;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204088.1|protein_coding|5/5|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NBL1|NBL1|transcript|NM_182744.3|protein_coding|4/4|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|MINOS1-NBL1|MINOS1-NBL1|transcript|NM_001204089.1|protein_coding|4/4|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278164.1|protein_coding|4/4|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278165.1|protein_coding|4/4|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204084.2|protein_coding|4/4|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NBL1|NBL1|transcript|NM_005380.7|protein_coding|4/4|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204085.1|protein_coding|4/4|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NBL1|NBL1|transcript|NM_001204086.2|protein_coding|4/4|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|NBL1|NBL1|transcript|NM_001278166.1|protein_coding|4/4|c.*12C>T|||||12|;p3_1000G_AA=C|||;p3_1000G_AC=15;p3_1000G_AF=0.00299521;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=10771;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19983634;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:99,0,173
chr1	19678852	rs115124268	T	C	1006.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.14;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=7.586;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.89;ReadPosRankSum=-0.894;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115124268;dbSNPBuildID=132;ANN=C|downstream_gene_variant|MODIFIER|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding||c.*4188A>G|||||3361|,C|intron_variant|MODIFIER|HTR6|HTR6|transcript|NM_000871.2|protein_coding|2/2|c.874-67T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=53;p3_1000G_AF=0.0105831;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=18279;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20005345;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,29:46:99:1035,0,470
chr1	19679329	rs8192534	C	T	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.624;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.576;SOR=0.51;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8192534;dbSNPBuildID=117;ANN=T|synonymous_variant|LOW|HTR6|HTR6|transcript|NM_000871.2|protein_coding|3/3|c.1284C>T|p.Pro428Pro|1751/3388|1284/1323|428/440||,T|downstream_gene_variant|MODIFIER|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding||c.*3711G>A|||||2884|;p3_1000G_AA=C|||;p3_1000G_AC=53;p3_1000G_AF=0.0105831;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=15153;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20005822;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=11,3739;ESP6500_AA_GTC=0,11,1864;ESP6500_CDS_SIZES=NM_000871.1:1323;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_117;ESP6500_DP=9;ESP6500_EA_AC=66,7394;ESP6500_EA_GTC=1,64,3665;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000871.1:coding-synonymous;ESP6500_GL=HTR6;ESP6500_GRCh38_POSITION=1:19679329;ESP6500_GTC=1,75,5529;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000871.1:c.1284C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000871.1:p.(P428);ESP6500_MAF=0.8847,0.2933,0.6869;ESP6500_TAC=77,11133	GT:AD:DP:GQ:PL	0/1:6,13:19:99:306,0,143
chr1	19694500	rs4370779	A	G	765.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.98;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=4.397;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-0.762;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4370779;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding|15/16|c.1434T>C|p.Arg478Arg|1676/2974|1434/1905|478/634||;p3_1000G_AA=a|||;p3_1000G_AC=3306;p3_1000G_AF=0.660144;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=19118;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.8042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20020993;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7618;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2499,1907;ESP6500_AA_GTC=704,1091,408;ESP6500_CDS_SIZES=NM_181719.4:1905;ESP6500_CG=-9.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=115;ESP6500_EA_AC=6963,1637;ESP6500_EA_GTC=2858,1247,195;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181719.4:coding-synonymous;ESP6500_GL=TMCO4;ESP6500_GRCh38_POSITION=1:19694500;ESP6500_GTC=3562,2338,603;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181719.4:c.1434T>C;ESP6500_HGVS_PROTEIN_VAR=NM_181719.4:p.(R478);ESP6500_MAF=19.0349,43.2819,27.249;ESP6500_TAC=9462,3544	GT:AD:DP:GQ:PL	0/1:16,32:48:99:794,0,390
chr1	19700744	rs79496233	C	T	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.106;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=-0.551;SOR=0.862;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79496233;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding|14/15|c.1382+24G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=54;p3_1000G_AF=0.0107827;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=20485;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20027237;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=12,4394;ESP6500_AA_AGE=19.1+/-41.9;ESP6500_AA_GTC=0,12,2191;ESP6500_CDS_SIZES=NM_181719.4:1905;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=116;ESP6500_EA_AC=69,8531;ESP6500_EA_AGE=41.2+/-98.3;ESP6500_EA_GTC=1,67,4232;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181719.4:intron;ESP6500_GL=TMCO4;ESP6500_GRCh38_POSITION=1:19700744;ESP6500_GTC=1,79,6423;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181719.4:c.1382+24G>A;ESP6500_MAF=0.8023,0.2724,0.6228;ESP6500_TAC=81,12925	GT:AD:DP:GQ:PL	0/1:32,15:47:99:349,0,905
chr1	19700911	rs10799834	G	A	1470.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10799834;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding|13/15|c.1265-26C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2046;p3_1000G_AF=0.408546;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=17963;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.2753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20027404;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1904,2502;ESP6500_AA_AGE=545.8+/-376.9;ESP6500_AA_GTC=444,1016,743;ESP6500_CDS_SIZES=NM_181719.4:1905;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=50;ESP6500_EA_AC=2423,6177;ESP6500_EA_AGE=402.8+/-347.6;ESP6500_EA_GTC=361,1701,2238;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181719.4:intron;ESP6500_GL=TMCO4;ESP6500_GRCh38_POSITION=1:19700911;ESP6500_GTC=805,2717,2981;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181719.4:c.1265-26C>T;ESP6500_MAF=28.1744,43.2138,33.2693;ESP6500_TAC=4327,8679	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1499,147,0
chr1	19700930	rs10737480	T	G	1305.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.36;SOR=2.073;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10737480;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding|13/15|c.1265-45A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2795;p3_1000G_AF=0.558107;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=18575;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20027423;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3264,1142;ESP6500_AA_AGE=405.1+/-333.4;ESP6500_AA_GTC=1221,822,160;ESP6500_CDS_SIZES=NM_181719.4:1905;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=2848,5752;ESP6500_EA_AGE=671.3+/-402.8;ESP6500_EA_GTC=507,1834,1959;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181719.4:intron;ESP6500_GL=TMCO4;ESP6500_GRCh38_POSITION=1:19700930;ESP6500_GTC=1728,2656,2119;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_181719.4:c.1265-45A>C;ESP6500_MAF=33.1163,25.9192,46.9937;ESP6500_TAC=6112,6894	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1334,114,0
chr1	19746653	rs36067693	G	A	376.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs36067693;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding|8/15|c.614-54C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=980;p3_1000G_AF=0.195687;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=16900;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20073146;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:405,33,0
chr1	19770613	rs79514605	G	A	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.845;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=7.47;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.53;ReadPosRankSum=-0.791;SOR=0.95;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79514605;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding|5/15|c.355-44C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=198;p3_1000G_AF=0.0395367;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=21045;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20097106;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=5,4401;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,5,2198;ESP6500_CDS_SIZES=NM_181719.4:1905;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=95;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181719.4:intron;ESP6500_GL=TMCO4;ESP6500_GRCh38_POSITION=1:19770613;ESP6500_GTC=0,8,6495;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181719.4:c.355-44C>T;ESP6500_MAF=0.0349,0.1135,0.0615;ESP6500_TAC=8,12998	GT:AD:DP:GQ:PL	0/1:28,13:41:99:255,0,744
chr1	19771448	rs10917536	G	T	701.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10917536;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding|5/16|c.214C>A|p.Gln72Lys|456/2974|214/1905|72/634||,T|sequence_feature|LOW|TMCO4|TMCO4|antibody-mapping:heterologous_protein_expression_evidence|NM_181719.4|protein_coding|5/16|c.214C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1898;p3_1000G_AF=0.378994;p3_1000G_AFR_AF=0.3918;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=16802;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20097941;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1802,2604;ESP6500_AA_AGE=632.0+/-395.8;ESP6500_AA_GTC=360,1082,761;ESP6500_CDS_SIZES=NM_181719.4:1905;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=42;ESP6500_EA_AC=2965,5635;ESP6500_EA_AGE=659.3+/-401.7;ESP6500_EA_GTC=506,1953,1841;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181719.4:missense;ESP6500_GL=TMCO4;ESP6500_GRCh38_POSITION=1:19771448;ESP6500_GS=53;ESP6500_GTC=866,3035,2602;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_181719.4:c.214C>A;ESP6500_HGVS_PROTEIN_VAR=NM_181719.4:p.(Q72K);ESP6500_MAF=34.4767,40.8988,36.6523;ESP6500_PH=benign:0.0;ESP6500_TAC=4767,8239	GT:AD:DP:GQ:PL	1/1:0,20:20:60:730,60,0
chr1	19780525	rs12035882	G	A	655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12035882;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TMCO4|TMCO4|transcript|NM_181719.4|protein_coding|4/15|c.179+55C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=896;p3_1000G_AF=0.178914;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=21889;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.2137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20107018;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:684,63,0
chr1	19978292	rs2236772	C	T	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.266;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=-0.871;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236772;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|PLA2G2A|PLA2G2A|transcript|NM_000300.3|protein_coding|4/5|c.185+88G>A||||||,T|intron_variant|MODIFIER|PLA2G2A|PLA2G2A|transcript|NM_001161729.1|protein_coding|3/4|c.185+88G>A||||||,T|intron_variant|MODIFIER|PLA2G2A|PLA2G2A|transcript|NM_001161727.1|protein_coding|4/5|c.185+88G>A||||||,T|intron_variant|MODIFIER|PLA2G2A|PLA2G2A|transcript|NM_001161728.1|protein_coding|3/4|c.185+88G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=223;p3_1000G_AF=0.0445288;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=19948;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20304785;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,14:20:99:402,0,189
chr1	19978469	rs2236771	C	G	759.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0.813;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=0.641;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236771;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|PLA2G2A|PLA2G2A|transcript|NM_000300.3|protein_coding|4/6|c.96G>C|p.Thr32Thr|391/1000|96/435|32/144||,G|synonymous_variant|LOW|PLA2G2A|PLA2G2A|transcript|NM_001161729.1|protein_coding|3/5|c.96G>C|p.Thr32Thr|314/923|96/435|32/144||,G|synonymous_variant|LOW|PLA2G2A|PLA2G2A|transcript|NM_001161727.1|protein_coding|4/6|c.96G>C|p.Thr32Thr|360/969|96/435|32/144||,G|synonymous_variant|LOW|PLA2G2A|PLA2G2A|transcript|NM_001161728.1|protein_coding|3/5|c.96G>C|p.Thr32Thr|280/889|96/435|32/144||;p3_1000G_AA=C|||;p3_1000G_AC=486;p3_1000G_AF=0.0970447;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=19229;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.0775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20304962;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=81,4325;ESP6500_AA_AGE=69.2+/-107.0;ESP6500_AA_GTC=1,79,2123;ESP6500_CDS_SIZES=NM_001161729.1:435,NM_001161728.1:435,NM_001161727.1:435,NM_000300.3:435;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=80;ESP6500_EA_AC=794,7806;ESP6500_EA_AGE=185.5+/-233.2;ESP6500_EA_GTC=42,710,3548;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001161729.1:coding-synonymous,NM_001161728.1:coding-synonymous,NM_001161727.1:coding-synonymous,NM_000300.3:coding-synonymous;ESP6500_GL=PLA2G2A;ESP6500_GRCh38_POSITION=1:19978469;ESP6500_GTC=43,789,5671;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001161729.1:c.96G>C,NM_001161728.1:c.96G>C,NM_001161727.1:c.96G>C,NM_000300.3:c.96G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001161729.1:p.(T32),NM_001161728.1:p.(T32),NM_001161727.1:p.(T32),NM_000300.3:p.(T32);ESP6500_MAF=9.2326,1.8384,6.7277;ESP6500_TAC=875,12131	GT:AD:DP:GQ:PL	0/1:62,32:94:99:788,0,1606
chr1	19978572	rs10732279	C	T	2294.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=0.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10732279;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PLA2G2A|PLA2G2A|transcript|NM_000300.3|protein_coding|3/5|c.41-48G>A||||||,T|intron_variant|MODIFIER|PLA2G2A|PLA2G2A|transcript|NM_001161729.1|protein_coding|2/4|c.41-48G>A||||||,T|intron_variant|MODIFIER|PLA2G2A|PLA2G2A|transcript|NM_001161727.1|protein_coding|3/5|c.41-48G>A||||||,T|intron_variant|MODIFIER|PLA2G2A|PLA2G2A|transcript|NM_001161728.1|protein_coding|2/4|c.41-48G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4178;p3_1000G_AF=0.834265;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=19773;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20305065;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8681;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3549,857;ESP6500_AA_AGE=336.8+/-304.5;ESP6500_AA_GTC=1430,689,84;ESP6500_CDS_SIZES=NM_001161729.1:435,NM_001161728.1:435,NM_001161727.1:435,NM_000300.3:435;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=46;ESP6500_EA_AC=6595,2005;ESP6500_EA_AGE=350.2+/-327.8;ESP6500_EA_GTC=2534,1527,239;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001161729.1:intron,NM_001161728.1:intron,NM_001161727.1:intron,NM_000300.3:intron;ESP6500_GL=PLA2G2A;ESP6500_GRCh38_POSITION=1:19978572;ESP6500_GTC=3964,2216,323;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001161729.1:c.41-48G>A,NM_001161728.1:c.41-48G>A,NM_001161727.1:c.41-48G>A,NM_000300.3:c.41-48G>A;ESP6500_MAF=23.314,19.4507,22.0052;ESP6500_TAC=10144,2862	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2323,230,0
chr1	20115561	rs584367	T	C	845.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs584367;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|PLA2G2D|PLA2G2D|transcript|NM_012400.3|protein_coding|3/4|c.238A>G|p.Ser80Gly|306/1970|238/438|80/145||,C|intron_variant|MODIFIER|PLA2G2D|PLA2G2D|transcript|NM_001271814.1|protein_coding|2/2|c.185+772A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3853;p3_1000G_AF=0.769369;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=19128;p3_1000G_EAS_AF=0.7569;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20442054;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3979,427;ESP6500_AA_AGE=206.8+/-228.3;ESP6500_AA_GTC=1800,379,24;ESP6500_CDS_SIZES=NM_012400.2:438;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=119;ESP6500_EA_AC=5007,3593;ESP6500_EA_AGE=520.4+/-379.7;ESP6500_EA_GTC=1435,2137,728;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012400.2:missense;ESP6500_GL=PLA2G2D;ESP6500_GRCh38_POSITION=1:20115561;ESP6500_GS=56;ESP6500_GTC=3235,2516,752;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012400.2:c.238A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012400.2:p.(S80G);ESP6500_MAF=41.7791,9.6913,30.9088;ESP6500_PH=benign:0.0;ESP6500_TAC=8986,4020	GT:AD:DP:GQ:PL	1/1:0,25:25:75:874,75,0
chr1	20119677	rs11298078;rs397979474	GT	G	61.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11298078;dbSNPBuildID=132,138;ANN=G|upstream_gene_variant|MODIFIER|PLA2G2D|PLA2G2D|transcript|NM_012400.3|protein_coding||c.-180delA|||||112|,G|upstream_gene_variant|MODIFIER|PLA2G2D|PLA2G2D|transcript|NM_001271814.1|protein_coding||c.-180delA|||||112|,G|intergenic_region|MODIFIER|PLA2G2D-PLA2G2F|PLA2G2D-PLA2G2F|intergenic_region|PLA2G2D-PLA2G2F|||n.20119678delT||||||;p3_1000G_AA=?|TTTTT|TTTT|unsure;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=9547;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20446170;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:98,9,0
chr1	20140337	rs12065685	T	C	260.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.447;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12065685;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PLA2G2F|PLA2G2F|transcript|NM_022819.3|protein_coding|2/4|c.169+119T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=692;p3_1000G_AF=0.138179;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=21509;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.1163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20466830;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:289,0,277
chr1	20148383	rs3738125	G	A	478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.659;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=2.127;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.958;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738125;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|PLA2G2F|PLA2G2F|transcript|NM_022819.3|protein_coding|5/5|c.618G>A|p.Ala206Ala|716/2719|618/636|206/211||;p3_1000G_AA=G|||;p3_1000G_AC=118;p3_1000G_AF=0.0235623;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14811;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20474876;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_022819.3:636;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=43;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022819.3:coding-synonymous;ESP6500_GL=PLA2G2F;ESP6500_GRCh38_POSITION=1:20148383;ESP6500_GTC=0,3,6500;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022819.3:c.618G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022819.3:p.(A206);ESP6500_MAF=0.0233,0.0227,0.0231;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PL	0/1:14,18:32:99:507,0,448
chr1	20148414	rs3738126	T	C	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.84;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.246;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.069;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738126;dbSNPBuildID=107;ANN=C|3_prime_UTR_variant|MODIFIER|PLA2G2F|PLA2G2F|transcript|NM_022819.3|protein_coding|5/5|c.*13T>C|||||13|;p3_1000G_AA=C|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=15182;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.1103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20474907;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=557,3845;ESP6500_AA_GTC=43,471,1687;ESP6500_CDS_SIZES=NM_022819.3:636;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=22;ESP6500_EA_AC=942,7658;ESP6500_EA_GTC=47,848,3405;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022819.3:utr-3;ESP6500_GL=PLA2G2F;ESP6500_GRCh38_POSITION=1:20148414;ESP6500_GTC=90,1319,5092;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022819.3:c.*13T>C;ESP6500_MAF=10.9535,12.6533,11.529;ESP6500_TAC=1499,11503	GT:AD:DP:GQ:PL	0/1:13,11:24:99:353,0,392
chr1	20164025	rs6426616	T	C	1823.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=1.217;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426616;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|PLA2G2C|PLA2G2C|transcript|NM_001316722.1|protein_coding|4/5|c.410A>G|p.Gln137Arg|411/622|410/453|137/150||;p3_1000G_AA=C|||;p3_1000G_AC=3305;p3_1000G_AF=0.659944;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=20893;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.5835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20490518;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2901,1105;ESP6500_AA_GTC=1064,773,166;ESP6500_CDS_SIZES=NM_001105572.1:453;ESP6500_CG=3.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=35;ESP6500_EA_AC=4958,3386;ESP6500_EA_GTC=1491,1976,705;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001105572.1:missense;ESP6500_GL=PLA2G2C;ESP6500_GRCh38_POSITION=1:20164025;ESP6500_GS=43;ESP6500_GTC=2555,2749,871;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001105572.1:c.419A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001105572.1:p.(Q140R);ESP6500_MAF=40.5801,27.5836,36.3644;ESP6500_PH=benign:0.0;ESP6500_TAC=7859,4491	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1852,177,0
chr1	20172675	rs2301475	T	C	397.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2301475;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PLA2G2C|PLA2G2C|transcript|NM_001316722.1|protein_coding|3/4|c.277+119A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2114;p3_1000G_AF=0.422125;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=19506;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20499168;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:426,36,0
chr1	20174949	rs10916718	T	C	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=3.211;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.578;SOR=0.257;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10916718;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PLA2G2C|PLA2G2C|transcript|NM_001316722.1|protein_coding|2/4|c.179+58A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2011;p3_1000G_AF=0.401558;p3_1000G_AFR_AF=0.3986;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=20543;p3_1000G_EAS_AF=0.5486;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20501442;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,17:40:99:476,0,651
chr1	20175089	rs12139100	G	A	1674.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.061;ClippingRankSum=0;DP=138;ExcessHet=3.0103;FS=2.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.561;SOR=0.532;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12139100;dbSNPBuildID=120;ANN=A|stop_gained|HIGH|PLA2G2C|PLA2G2C|transcript|NM_001316722.1|protein_coding|2/5|c.97C>T|p.Arg33*|98/622|97/453|33/150||;LOF=(PLA2G2C|PLA2G2C|1|1.00);NMD=(PLA2G2C|PLA2G2C|1|1.00);p3_1000G_AA=G|||;p3_1000G_AC=1203;p3_1000G_AF=0.240216;p3_1000G_AFR_AF=0.2829;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=18086;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.1839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20501582;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=979,2931;ESP6500_AA_GTC=124,731,1100;ESP6500_CDS_SIZES=NM_001105572.1:453;ESP6500_CG=-0.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=101;ESP6500_EA_AC=1469,6879;ESP6500_EA_GTC=122,1225,2827;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001105572.1:stop-gained;ESP6500_GL=PLA2G2C;ESP6500_GRCh38_POSITION=1:20175089;ESP6500_GTC=246,1956,3927;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001105572.1:c.106C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001105572.1:p.(R36*);ESP6500_MAF=17.597,25.0384,19.9706;ESP6500_TAC=2448,9810	GT:AD:DP:GQ:PL	0/1:66,72:138:99:1703,0,1528
chr1	20177217	rs10753483	G	A	536.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10753483;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PLA2G2C|PLA2G2C|transcript|NM_001316722.1|protein_coding|1/4|c.40+107C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2978;p3_1000G_AF=0.594649;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=18185;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20503710;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:565,51,0
chr1	20323321	rs4655194	T	C	1301.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4655194;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|VWA5B1|VWA5B1|transcript|NM_001039500.2|protein_coding|7/21|c.967-35T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3043;p3_1000G_AF=0.607628;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=19331;p3_1000G_EAS_AF=0.9087;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20649814;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=825,559;ESP6500_AA_GTC=254,317,121;ESP6500_CDS_SIZES=NM_001039500.2:3648;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=31;ESP6500_EA_AC=1413,1769;ESP6500_EA_GTC=312,789,490;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039500.2:intron;ESP6500_GL=VWA5B1;ESP6500_GRCh38_POSITION=1:20323321;ESP6500_GTC=566,1106,611;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039500.2:c.967-35T>C;ESP6500_MAF=44.406,40.3902,49.0145;ESP6500_TAC=2238,2328	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1330,120,0
chr1	20330859	rs2072753	T	C	996.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2072753;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|VWA5B1|VWA5B1|transcript|NM_001039500.2|protein_coding|10/21|c.1458-10T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3030;p3_1000G_AF=0.605032;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=21116;p3_1000G_EAS_AF=0.9097;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20657352;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=819,565;ESP6500_AA_GTC=249,321,122;ESP6500_CDS_SIZES=NM_001039500.2:3648;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=63;ESP6500_EA_AC=1396,1786;ESP6500_EA_GTC=308,780,503;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039500.2:intron;ESP6500_GL=VWA5B1;ESP6500_GRCh38_POSITION=1:20330859;ESP6500_GTC=557,1101,625;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039500.2:c.1458-10T>C;ESP6500_MAF=43.8718,40.8237,48.5107;ESP6500_TAC=2215,2351	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1025,96,0
chr1	20337635	rs57312184	T	C	1983.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=1.46;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs57312184;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|VWA5B1|VWA5B1|transcript|NM_001039500.2|protein_coding|13/21|c.1943-11T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=995;p3_1000G_AF=0.198682;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=20854;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20664128;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=47,1337;ESP6500_AA_GTC=2,43,647;ESP6500_CDS_SIZES=NM_001039500.2:3648;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=68;ESP6500_EA_AC=363,2819;ESP6500_EA_GTC=21,321,1249;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039500.2:intron;ESP6500_GL=VWA5B1;ESP6500_GRCh38_POSITION=1:20337635;ESP6500_GTC=23,364,1896;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039500.2:c.1943-11T>C;ESP6500_MAF=11.4079,3.396,8.9794;ESP6500_TAC=410,4156	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2012,180,0
chr1	20342744	rs1352305775	C	G	314.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|VWA5B1|VWA5B1|transcript|NM_001039500.2|protein_coding|15/21|c.2311+135C>G||||||	GT:AD:DP:GQ:PL	1/1:0,9:9:27:343,27,0
chr1	20345340	rs10799629	C	A	356.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10799629;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|VWA5B1|VWA5B1|transcript|NM_001039500.2|protein_coding|16/21|c.2627-116C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3049;p3_1000G_AF=0.608826;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=17271;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.4364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20671833;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:385,36,0
chr1	20354267	rs230180	A	G	738.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs230180;dbSNPBuildID=79;ANN=G|3_prime_UTR_variant|MODIFIER|VWA5B1|VWA5B1|transcript|NM_001039500.2|protein_coding|22/22|c.*4A>G|||||4|;p3_1000G_AA=G|||;p3_1000G_AC=2944;p3_1000G_AF=0.587859;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=16772;p3_1000G_EAS_AF=0.9087;p3_1000G_EUR_AF=0.4284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20680760;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:767,75,0
chr1	20613765	rs488991	T	A	974.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs488991;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|CDA|CDA|transcript|NM_001785.2|protein_coding|2/3|c.267-77T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4882;p3_1000G_AF=0.97484;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=21269;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20940258;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1003,90,0
chr1	20637835	rs2298298;262027	A	G	1063.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2298298;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|PINK1|PINK1|transcript|NM_032409.2|protein_coding|1/7|c.388-7A>G||||||,G|downstream_gene_variant|MODIFIER|MIR6084|MIR6084|transcript|NR_106732.1|pseudogene||n.*4047A>G|||||4047|,G|downstream_gene_variant|MODIFIER|PINK1-AS|PINK1-AS|transcript|NR_046507.1|pseudogene||n.*4822T>C|||||4822|;p3_1000G_AA=N|||;p3_1000G_AC=4116;p3_1000G_AF=0.821885;p3_1000G_AFR_AF=0.7405;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=18491;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.8976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20964328;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8732;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3400,1006;ESP6500_AA_AGE=724.2+/-409.5;ESP6500_AA_GTC=1310,780,113;ESP6500_CDS_SIZES=NM_032409.2:1746;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=7569,1031;ESP6500_EA_AGE=769.1+/-407.6;ESP6500_EA_GTC=3335,899,66;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032409.2:intron;ESP6500_GL=PINK1;ESP6500_GRCh38_POSITION=1:20637835;ESP6500_GTC=4645,1679,179;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032409.2:c.388-7A>G;ESP6500_MAF=11.9884,22.8325,15.662;ESP6500_TAC=10969,2037;CLINVAR_ALLELEID=249677;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239372;CLINVAR_CLNDN=not_specified|Parkinson_Disease,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.20637835A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:604;CLINVAR_GENEINFO=PINK1:65018;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2298298	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1092,99,0
chr1	20645555	rs3131713;262028	G	A	1093.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=2.649;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3131713;dbSNPBuildID=103;ANN=A|splice_region_variant&intron_variant|LOW|PINK1|PINK1|transcript|NM_032409.2|protein_coding|4/7|c.960-5G>A||||||,A|intron_variant|MODIFIER|PINK1-AS|PINK1-AS|transcript|NR_046507.1|pseudogene|2/2|n.3981+30C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4110;p3_1000G_AF=0.820687;p3_1000G_AFR_AF=0.7352;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=15317;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.8956;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20972048;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8783;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3415,991;ESP6500_AA_AGE=372.7+/-320.5;ESP6500_AA_GTC=1316,783,104;ESP6500_CDS_SIZES=NM_032409.2:1746;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=41;ESP6500_EA_AC=7565,1035;ESP6500_EA_AGE=219.2+/-257.4;ESP6500_EA_GTC=3330,905,65;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032409.2:intron;ESP6500_GL=PINK1;ESP6500_GRCh38_POSITION=1:20645555;ESP6500_GTC=4646,1688,169;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032409.2:c.960-5G>A;ESP6500_MAF=12.0349,22.4921,15.5774;ESP6500_TAC=10980,2026;CLINVAR_ALLELEID=249678;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239372;CLINVAR_CLNDN=not_specified|Parkinson_Disease,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.20645555G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:611;CLINVAR_GENEINFO=PINK1:65018|PINK1-AS:100861548;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3131713	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1122,105,0
chr1	20650728	rs686658;295011	A	T	2879.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.71;SOR=3.698;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs686658;dbSNPBuildID=83;ANN=T|3_prime_UTR_variant|MODIFIER|PINK1|PINK1|transcript|NM_032409.2|protein_coding|8/8|c.*37A>T|||||37|,T|downstream_gene_variant|MODIFIER|DDOST|DDOST|transcript|NM_005216.4|protein_coding||c.*1651T>A|||||1039|,T|non_coding_transcript_exon_variant|MODIFIER|PINK1-AS|PINK1-AS|transcript|NR_046507.1|pseudogene|1/3|n.1466T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4179;p3_1000G_AF=0.834465;p3_1000G_AFR_AF=0.7844;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=22443;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.8917;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20977221;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8783;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3537,869;ESP6500_AA_AGE=326.7+/-299.7;ESP6500_AA_GTC=1420,697,86;ESP6500_CDS_SIZES=NM_032409.2:1746;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=20;ESP6500_EA_AC=7560,1038;ESP6500_EA_AGE=210.7+/-251.5;ESP6500_EA_GTC=3330,900,69;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032409.2:utr-3;ESP6500_GL=PINK1;ESP6500_GRCh38_POSITION=1:20650728;ESP6500_GTC=4750,1597,155;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_032409.2:c.*37A>T;ESP6500_MAF=12.0726,19.7231,14.6647;ESP6500_TAC=11097,1907;CLINVAR_ALLELEID=278644;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:CN239372;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|Parkinson_Disease,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.20650728A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:636;CLINVAR_GENEINFO=DDOST:1650|PINK1:65018|PINK1-AS:100861548;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=686658	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2908,235,0
chr1	20652339	rs6893;295057	T	C	2452.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=1.367;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6893;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|DDOST|DDOST|transcript|NM_005216.4|protein_coding|11/11|c.*40A>G|||||40|,C|upstream_gene_variant|MODIFIER|PINK1-AS|PINK1-AS|transcript|NR_046507.1|pseudogene||n.-146A>G|||||146|,C|downstream_gene_variant|MODIFIER|PINK1|PINK1|transcript|NM_032409.2|protein_coding||c.*1648T>C|||||828|;p3_1000G_AA=C|||;p3_1000G_AC=4131;p3_1000G_AF=0.82488;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=16074;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.8936;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20978832;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8783;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3397,1007;ESP6500_AA_GTC=1315,767,120;ESP6500_CDS_SIZES=NM_005216.4:1371;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=17;ESP6500_EA_AC=7577,1021;ESP6500_EA_GTC=3348,881,70;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005216.4:utr-3;ESP6500_GL=DDOST;ESP6500_GRCh38_POSITION=1:20652339;ESP6500_GTC=4663,1648,190;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005216.4:c.*40A>G;ESP6500_MAF=11.8749,22.8656,15.5976;ESP6500_TAC=10974,2028;CLINVAR_ALLELEID=279865;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:CN239372;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|Parkinson_Disease,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.20652339T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:724;CLINVAR_GENEINFO=DDOST:1650|PINK1:65018;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6893	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2481,246,0
chr1	20652814	rs11428148;~rs11428148	G	GT	2313.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=0.941;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11428148;dbSNPBuildID=135;ANN=GT|upstream_gene_variant|MODIFIER|PINK1-AS|PINK1-AS|transcript|NR_046507.1|pseudogene||n.-622dupA|||||622|,GT|downstream_gene_variant|MODIFIER|PINK1|PINK1|transcript|NM_032409.2|protein_coding||c.*2123_*2124insT|||||1304|,GT|intron_variant|MODIFIER|DDOST|DDOST|transcript|NM_005216.4|protein_coding|9/10|c.1114+36dupA||||||;p3_1000G_AA=TTT|TTT|TTTT|insertion;p3_1000G_AC=2514;p3_1000G_AF=0.501997;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=18948;p3_1000G_EAS_AF=0.4206;p3_1000G_EUR_AF=0.6054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20979307;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=INDEL;ESP6500_AA_AC=2064,2202;ESP6500_AA_GTC=490,1084,559;ESP6500_CDS_SIZES=NM_005216.4:1371;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=66;ESP6500_EA_AC=5038,3216;ESP6500_EA_GTC=1543,1952,632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005216.4:intron;ESP6500_GL=DDOST;ESP6500_GRCh38_POSITION=1:20652814;ESP6500_GTC=2033,3036,1191;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005216.4:c.1114+36_1114+37insA;ESP6500_MAF=38.9629,48.3826,43.2748;ESP6500_TAC=7102,5418	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2351,211,0
chr1	20654387	rs607254;95261	G	A	1795.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs607254;dbSNPBuildID=83;ANN=A|upstream_gene_variant|MODIFIER|PINK1-AS|PINK1-AS|transcript|NR_046507.1|pseudogene||n.-2194C>T|||||2194|,A|downstream_gene_variant|MODIFIER|PINK1|PINK1|transcript|NM_032409.2|protein_coding||c.*3696G>A|||||2876|,A|intron_variant|MODIFIER|DDOST|DDOST|transcript|NM_005216.4|protein_coding|6/10|c.697-16C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1789;p3_1000G_AF=0.357228;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=17602;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.4076;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20980880;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1564,2828;ESP6500_AA_GTC=290,984,922;ESP6500_CDS_SIZES=NM_005216.4:1371;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=41;ESP6500_EA_AC=3439,5121;ESP6500_EA_GTC=736,1967,1577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005216.4:intron;ESP6500_GL=DDOST;ESP6500_GRCh38_POSITION=1:20654387;ESP6500_GTC=1026,2951,2499;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005216.4:c.697-16C>T;ESP6500_MAF=40.1752,35.6102,38.6272;ESP6500_TAC=5003,7949;CLINVAR_AF_ESP=0.3863;CLINVAR_AF_EXAC=0.38779;CLINVAR_AF_TGP=0.3572;CLINVAR_ALLELEID=101160;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.20654387G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DDOST:1650;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=607254	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1824,168,0
chr1	20655313	rs592851	G	A	289.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs592851;dbSNPBuildID=83;ANN=A|upstream_gene_variant|MODIFIER|PINK1-AS|PINK1-AS|transcript|NR_046507.1|pseudogene||n.-3120C>T|||||3120|,A|downstream_gene_variant|MODIFIER|PINK1|PINK1|transcript|NM_032409.2|protein_coding||c.*4622G>A|||||3802|,A|intron_variant|MODIFIER|DDOST|DDOST|transcript|NM_005216.4|protein_coding|5/10|c.602+127C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4873;p3_1000G_AF=0.973043;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16332;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20981806;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:318,30,0
chr1	20656138	rs4704;295156	G	A	1239.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=0.741;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4704;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|DDOST|DDOST|transcript|NM_005216.4|protein_coding|3/11|c.366C>T|p.Gly122Gly|509/2126|366/1371|122/456||,A|upstream_gene_variant|MODIFIER|PINK1-AS|PINK1-AS|transcript|NR_046507.1|pseudogene||n.-3945C>T|||||3945|,A|downstream_gene_variant|MODIFIER|PINK1|PINK1|transcript|NM_032409.2|protein_coding||c.*5447G>A|||||4627|;p3_1000G_AA=A|||;p3_1000G_AC=2941;p3_1000G_AF=0.58726;p3_1000G_AFR_AF=0.7579;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=21225;p3_1000G_EAS_AF=0.4117;p3_1000G_EUR_AF=0.6292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20982631;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3208,1198;ESP6500_AA_AGE=421.3+/-339.3;ESP6500_AA_GTC=1161,886,156;ESP6500_CDS_SIZES=NM_005216.4:1371;ESP6500_CG=-6.5;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=102;ESP6500_EA_AC=5249,3351;ESP6500_EA_AGE=497.3+/-374.5;ESP6500_EA_GTC=1628,1993,679;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005216.4:coding-synonymous;ESP6500_GL=DDOST;ESP6500_GRCh38_POSITION=1:20656138;ESP6500_GTC=2789,2879,835;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005216.4:c.366C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005216.4:p.(G122);ESP6500_MAF=38.9651,27.1902,34.9762;ESP6500_TAC=8457,4549;CLINVAR_ALLELEID=278588;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:CN169374|MedGen:CN239372;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|not_specified|Parkinson_Disease,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.20656138G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:748;CLINVAR_GENEINFO=DDOST:1650|PINK1:65018;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4704	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1268,123,0
chr1	20661380	rs537816	G	C	933.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs537816;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|DDOST|DDOST|transcript|NM_005216.4|protein_coding|1/11|c.22C>G|p.Arg8Gly|165/2126|22/1371|8/456||,C|downstream_gene_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding||c.*3204C>G|||||2634|,C|downstream_gene_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding||c.*3204C>G|||||2634|,C|downstream_gene_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding||c.*3204C>G|||||2634|;p3_1000G_AA=C|||;p3_1000G_AC=4873;p3_1000G_AF=0.973043;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=13004;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20987873;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4049,325;ESP6500_AA_GTC=1881,287,19;ESP6500_CDS_SIZES=NM_005216.4:1371;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=14;ESP6500_EA_AC=8543,3;ESP6500_EA_GTC=4270,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005216.4:missense;ESP6500_GL=DDOST;ESP6500_GRCh38_POSITION=1:20661380;ESP6500_GS=125;ESP6500_GTC=6151,290,19;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005216.4:c.22C>G;ESP6500_HGVS_PROTEIN_VAR=NM_005216.4:p.(R8G);ESP6500_MAF=0.0351,7.4303,2.5387;ESP6500_PH=benign:0.0;ESP6500_TAC=12592,328	GT:AD:DP:GQ:PL	1/1:0,28:28:84:962,84,0
chr1	20666113	rs630484	G	T	669.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs630484;dbSNPBuildID=83;ANN=T|upstream_gene_variant|MODIFIER|DDOST|DDOST|transcript|NM_005216.4|protein_coding||c.-4712C>A|||||4569|,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|14/14|c.2911+101C>A||||||,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|14/14|c.2908+101C>A||||||,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|14/14|c.2611+101C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1736;p3_1000G_AF=0.346645;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=17737;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20992606;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:698,60,0
chr1	20666326	rs631357	G	C	2245.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs631357;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_020816.3|protein_coding|14/15|c.2799C>G|p.Asp933Glu|3110/3971|2799/3090|933/1029||,C|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|14/15|c.2796C>G|p.Asp932Glu|3107/3968|2796/3087|932/1028||,C|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|14/15|c.2499C>G|p.Asp833Glu|3237/4098|2499/2790|833/929||,C|upstream_gene_variant|MODIFIER|DDOST|DDOST|transcript|NM_005216.4|protein_coding||c.-4925C>G|||||4782|;p3_1000G_AA=C|||;p3_1000G_AC=3528;p3_1000G_AF=0.704473;p3_1000G_AFR_AF=0.7572;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=17319;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.8241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20992819;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3352,1054;ESP6500_AA_AGE=387.9+/-326.7;ESP6500_AA_GTC=1273,806,124;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=140;ESP6500_EA_AC=6926,1674;ESP6500_EA_AGE=307.0+/-308.2;ESP6500_EA_GTC=2808,1310,182;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020816.2:missense,NM_001122819.1:missense;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20666326;ESP6500_GS=45,45;ESP6500_GTC=4081,2116,306;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.2799C>G,NM_001122819.1:c.2796C>G;ESP6500_HGVS_PROTEIN_VAR=NM_020816.2:p.(D933E),NM_001122819.1:p.(D932E);ESP6500_MAF=19.4651,23.9219,20.9749;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10278,2728	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2274,204,0
chr1	20666440	rs573268	G	C	1274.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.52;SOR=3.193;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs573268;dbSNPBuildID=83;ANN=C|upstream_gene_variant|MODIFIER|DDOST|DDOST|transcript|NM_005216.4|protein_coding||c.-5039C>G|||||4896|,C|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|13/14|c.2794-109C>G||||||,C|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|13/14|c.2791-109C>G||||||,C|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|13/14|c.2494-109C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4873;p3_1000G_AF=0.973043;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=15576;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20992933;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1303,99,0
chr1	20684862	rs61750850	T	C	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=8.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.48;SOR=1.383;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61750850;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_020816.3|protein_coding|10/15|c.2178A>G|p.Ala726Ala|2489/3971|2178/3090|726/1029||,C|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|10/15|c.2178A>G|p.Ala726Ala|2489/3968|2178/3087|726/1028||,C|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|10/15|c.1878A>G|p.Ala626Ala|2616/4098|1878/2790|626/929||;p3_1000G_AA=C|||;p3_1000G_AC=233;p3_1000G_AF=0.0465256;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=16625;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0.0596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21011355;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=204,4190;ESP6500_AA_GTC=6,192,1999;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=49;ESP6500_EA_AC=414,8172;ESP6500_EA_GTC=7,400,3886;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:coding-synonymous,NM_001122819.1:coding-synonymous;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20684862;ESP6500_GTC=13,592,5885;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.2178A>G,NM_001122819.1:c.2178A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020816.2:p.(A726),NM_001122819.1:p.(A726);ESP6500_MAF=4.8218,4.6427,4.7612;ESP6500_TAC=618,12362	GT:AD:DP:GQ:PL	0/1:24,18:42:99:488,0,563
chr1	20685059	rs2296224	C	T	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.712;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.98;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296224;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|9/14|c.2020-39G>A||||||,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|9/14|c.2020-39G>A||||||,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|9/14|c.1720-39G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=86;p3_1000G_AF=0.0171725;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=16278;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0.0099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21011552;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=39,4275;ESP6500_AA_GTC=0,39,2118;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=10;ESP6500_EA_AC=61,8421;ESP6500_EA_GTC=0,61,4180;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:intron,NM_001122819.1:intron;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20685059;ESP6500_GTC=0,100,6298;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.2020-39G>A,NM_001122819.1:c.2020-39G>A;ESP6500_MAF=0.7192,0.904,0.7815;ESP6500_TAC=100,12696	GT:AD:DP:GQ:PL	0/1:2,5:7:45:130,0,45
chr1	20686082	rs479323	G	A	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.929;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.41;ReadPosRankSum=-1.553;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs479323;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_020816.3|protein_coding|9/15|c.1983C>T|p.Pro661Pro|2294/3971|1983/3090|661/1029||,A|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|9/15|c.1983C>T|p.Pro661Pro|2294/3968|1983/3087|661/1028||,A|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|9/15|c.1683C>T|p.Pro561Pro|2421/4098|1683/2790|561/929||;p3_1000G_AA=G|||;p3_1000G_AC=1046;p3_1000G_AF=0.208866;p3_1000G_AFR_AF=0.5794;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=16132;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21012575;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1947,2415;ESP6500_AA_GTC=426,1095,660;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=29;ESP6500_EA_AC=487,8055;ESP6500_EA_GTC=13,461,3797;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:coding-synonymous,NM_001122819.1:coding-synonymous;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20686082;ESP6500_GTC=439,1556,4457;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.1983C>T,NM_001122819.1:c.1983C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020816.2:p.(P661),NM_001122819.1:p.(P661);ESP6500_MAF=5.7012,44.6355,18.8624;ESP6500_TAC=2434,10470	GT:AD:DP:GQ:PL	0/1:12,7:19:99:131,0,298
chr1	20690413	rs493018	G	T	128.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.99;QD=25.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs493018;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|6/14|c.1234-78C>A||||||,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|6/14|c.1234-78C>A||||||,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|6/14|c.934-78C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3171;p3_1000G_AF=0.633187;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=13252;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.3976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21016906;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:157,15,0
chr1	20698250	rs521424	G	A	546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs521424;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|6/14|c.1233+129C>T||||||,A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|6/14|c.1233+129C>T||||||,A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|6/14|c.933+129C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2387;p3_1000G_AF=0.476637;p3_1000G_AFR_AF=0.6899;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=20420;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21024743;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:575,48,0
chr1	20698408	rs522496	C	T	650.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.958;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.323;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.267;SOR=0.666;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs522496;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_020816.3|protein_coding|6/15|c.1204G>A|p.Val402Met|1515/3971|1204/3090|402/1029||,T|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|6/15|c.1204G>A|p.Val402Met|1515/3968|1204/3087|402/1028||,T|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|6/15|c.904G>A|p.Val302Met|1642/4098|904/2790|302/929||;p3_1000G_AA=T|||;p3_1000G_AC=2989;p3_1000G_AF=0.596845;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=17649;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.6869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21024901;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2196,2210;ESP6500_AA_AGE=588.0+/-386.8;ESP6500_AA_GTC=536,1124,543;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=74;ESP6500_EA_AC=5496,3104;ESP6500_EA_AGE=473.8+/-368.7;ESP6500_EA_GTC=1736,2024,540;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020816.2:missense,NM_001122819.1:missense;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20698408;ESP6500_GS=21,21;ESP6500_GTC=2272,3148,1083;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.1204G>A,NM_001122819.1:c.1204G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020816.2:p.(V402M),NM_001122819.1:p.(V402M);ESP6500_MAF=36.093,49.8411,40.8581;ESP6500_PH=benign:0.006,benign:0.006;ESP6500_TAC=7692,5314	GT:AD:DP:GQ:PL	0/1:25,28:53:99:679,0,636
chr1	20704549	rs2296225	T	C	1149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=0.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.107;SOR=0.589;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296225;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_020816.3|protein_coding|5/15|c.1021A>G|p.Ile341Val|1332/3971|1021/3090|341/1029||,C|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|5/15|c.1021A>G|p.Ile341Val|1332/3968|1021/3087|341/1028||,C|missense_variant|MODERATE|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|5/15|c.721A>G|p.Ile241Val|1459/4098|721/2790|241/929||;p3_1000G_AA=T|||;p3_1000G_AC=820;p3_1000G_AF=0.163738;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=17209;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.0915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21031042;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=428,3978;ESP6500_AA_AGE=207.5+/-228.8;ESP6500_AA_GTC=17,394,1792;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=132;ESP6500_EA_AC=720,7880;ESP6500_EA_AGE=176.2+/-226.1;ESP6500_EA_GTC=33,654,3613;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020816.2:missense,NM_001122819.1:missense;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20704549;ESP6500_GS=29,29;ESP6500_GTC=50,1048,5405;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.1021A>G,NM_001122819.1:c.1021A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020816.2:p.(I341V),NM_001122819.1:p.(I341V);ESP6500_MAF=8.3721,9.714,8.8267;ESP6500_PH=benign:0.084,benign:0.084;ESP6500_TAC=1148,11858	GT:AD:DP:GQ:PL	0/1:57,45:102:99:1178,0,1576
chr1	20713586	rs10799661	C	A	1017.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10799661;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|2/14|c.379-31G>T||||||,A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|2/14|c.379-31G>T||||||,A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|2/14|c.79-31G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3765;p3_1000G_AF=0.751797;p3_1000G_AFR_AF=0.7352;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=13584;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21040079;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3260,1142;ESP6500_AA_AGE=377.5+/-322.5;ESP6500_AA_GTC=1194,872,135;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=34;ESP6500_EA_AC=6049,2551;ESP6500_EA_AGE=383.9+/-340.9;ESP6500_EA_GTC=2129,1791,380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:intron,NM_001122819.1:intron;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20713586;ESP6500_GTC=3323,2663,515;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.379-31G>T,NM_001122819.1:c.379-31G>T;ESP6500_MAF=29.6628,25.9428,28.4033;ESP6500_TAC=9309,3693	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1046,93,0
chr1	20713595	rs41307866	C	T	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.779;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=-0.945;SOR=1.65;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41307866;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|2/14|c.379-40G>A||||||,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|2/14|c.379-40G>A||||||,T|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|2/14|c.79-40G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=763;p3_1000G_AF=0.152356;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=13764;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.0905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21040088;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=480,3922;ESP6500_AA_GTC=22,436,1743;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=29;ESP6500_EA_AC=676,7922;ESP6500_EA_GTC=31,614,3654;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:intron,NM_001122819.1:intron;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20713595;ESP6500_GTC=53,1050,5397;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.379-40G>A,NM_001122819.1:c.379-40G>A;ESP6500_MAF=7.8623,10.9041,8.8923;ESP6500_TAC=1156,11844	GT:AD:DP:GQ:PL	0/1:21,9:30:99:205,0,524
chr1	20713658	rs10916851	G	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.479;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=0.877;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10916851;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|2/14|c.379-103C>T||||||,A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|2/14|c.379-103C>T||||||,A|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|2/14|c.79-103C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1387;p3_1000G_AF=0.276957;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=13453;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.1451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21040151;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,11:15:88:328,0,88
chr1	20715601	rs12046928	G	A	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.571;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=0.702;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12046928;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_020816.3|protein_coding|2/15|c.270C>T|p.Tyr90Tyr|581/3971|270/3090|90/1029||,A|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|2/15|c.270C>T|p.Tyr90Tyr|581/3968|270/3087|90/1028||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|2/15|c.-31C>T||||||,A|5_prime_UTR_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|2/15|c.-31C>T|||||31|,A|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103161.1|protein_coding||c.*6191C>T|||||4131|,A|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103160.1|protein_coding||c.*6191C>T|||||4131|;p3_1000G_AA=G|||;p3_1000G_AC=1404;p3_1000G_AF=0.280351;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=19859;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.1451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21042094;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=369,4037;ESP6500_AA_AGE=187.1+/-213.8;ESP6500_AA_GTC=14,341,1848;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=-5.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=88;ESP6500_EA_AC=1106,7494;ESP6500_EA_AGE=230.8+/-265.0;ESP6500_EA_GTC=82,942,3276;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:coding-synonymous,NM_001122819.1:coding-synonymous;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20715601;ESP6500_GTC=96,1283,5124;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.270C>T,NM_001122819.1:c.270C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020816.2:p.(Y90),NM_001122819.1:p.(Y90);ESP6500_MAF=12.8605,8.3749,11.3409;ESP6500_TAC=1475,11531	GT:AD:DP:GQ:PL	0/1:23,18:41:99:357,0,583
chr1	20717420	rs604659	T	C	62.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs604659;dbSNPBuildID=83;ANN=C|5_prime_UTR_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|1/15|c.-141A>G|||||1850|,C|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103161.1|protein_coding||c.*4372A>G|||||2312|,C|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103160.1|protein_coding||c.*4372A>G|||||2312|,C|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|1/14|c.231+56A>G||||||,C|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|1/14|c.231+56A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3359;p3_1000G_AF=0.670727;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=10220;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21043913;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0
chr1	20717433	rs604645	T	C	102.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs604645;dbSNPBuildID=83;ANN=C|5_prime_UTR_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|1/15|c.-154A>G|||||1863|,C|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103161.1|protein_coding||c.*4359A>G|||||2299|,C|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103160.1|protein_coding||c.*4359A>G|||||2299|,C|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|1/14|c.231+43A>G||||||,C|intron_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|1/14|c.231+43A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3853;p3_1000G_AF=0.769369;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=9600;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.7167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21043926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3268,806;ESP6500_AA_GTC=1325,618,94;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=3.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=12;ESP6500_EA_AC=5699,2433;ESP6500_EA_GTC=2029,1641,396;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:intron,NM_001122819.1:intron;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20717433;ESP6500_GTC=3354,2259,490;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.231+43A>G,NM_001122819.1:c.231+43A>G;ESP6500_MAF=29.9188,19.784,26.5361;ESP6500_TAC=8967,3239	GT:AD:DP:GQ:PL	1/1:0,4:4:12:130,12,0
chr1	20717668	rs601329	A	G	647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs601329;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_020816.3|protein_coding|1/15|c.39T>C|p.Arg13Arg|350/3971|39/3090|13/1029||,G|synonymous_variant|LOW|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|1/15|c.39T>C|p.Arg13Arg|350/3968|39/3087|13/1028||,G|5_prime_UTR_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|1/15|c.-389T>C|||||2098|,G|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103161.1|protein_coding||c.*4124T>C|||||2064|,G|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103160.1|protein_coding||c.*4124T>C|||||2064|;p3_1000G_AA=G|||;p3_1000G_AC=3566;p3_1000G_AF=0.712061;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=7917;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.7167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21044161;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2733,1611;ESP6500_AA_GTC=903,927,342;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=-5.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=11;ESP6500_EA_AC=5867,2633;ESP6500_EA_GTC=2078,1711,461;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:coding-synonymous,NM_001122819.1:coding-synonymous;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20717668;ESP6500_GTC=2981,2638,803;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.39T>C,NM_001122819.1:c.39T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020816.2:p.(R13),NM_001122819.1:p.(R13);ESP6500_MAF=30.9765,37.0856,33.0427;ESP6500_TAC=8600,4244	GT:AD:DP:GQ:PL	1/1:0,21:21:63:676,63,0
chr1	20717726	rs601392	A	C	362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs601392;dbSNPBuildID=83;ANN=C|5_prime_UTR_variant|MODIFIER|KIF17|KIF17|transcript|NM_020816.3|protein_coding|1/15|c.-20T>G|||||20|,C|5_prime_UTR_variant|MODIFIER|KIF17|KIF17|transcript|NM_001122819.2|protein_coding|1/15|c.-20T>G|||||20|,C|5_prime_UTR_variant|MODIFIER|KIF17|KIF17|transcript|NM_001287212.1|protein_coding|1/15|c.-447T>G|||||2156|,C|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103161.1|protein_coding||c.*4066T>G|||||2006|,C|downstream_gene_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103160.1|protein_coding||c.*4066T>G|||||2006|;p3_1000G_AA=C|||;p3_1000G_AC=4631;p3_1000G_AF=0.92472;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=6772;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21044219;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3652,114;ESP6500_AA_GTC=1772,108,3;ESP6500_CDS_SIZES=NM_020816.2:3090,NM_001122819.1:3087;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=4;ESP6500_EA_AC=6348,1224;ESP6500_EA_GTC=2683,982,121;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020816.2:utr-5,NM_001122819.1:utr-5;ESP6500_GL=KIF17;ESP6500_GRCh38_POSITION=1:20717726;ESP6500_GTC=4455,1090,124;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_020816.2:c.-20T>G,NM_001122819.1:c.-20T>G;ESP6500_MAF=16.1648,3.0271,11.801;ESP6500_TAC=10000,1338	GT:AD:DP:GQ:PL	1/1:0,10:10:30:391,30,0
chr1	20724465	rs592060	C	T	1473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=0.919;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs592060;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|SH2D5|SH2D5|transcript|NM_001103161.1|protein_coding|6/10|c.561G>A|p.Gln187Gln|1063/3834|561/1272|187/423||,T|synonymous_variant|LOW|SH2D5|SH2D5|transcript|NM_001103160.1|protein_coding|5/9|c.309G>A|p.Gln103Gln|934/3705|309/1020|103/339||;p3_1000G_AA=T|||;p3_1000G_AC=4405;p3_1000G_AF=0.879593;p3_1000G_AFR_AF=0.9849;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=17563;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.7714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21050958;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3719,167;ESP6500_AA_GTC=1780,159,4;ESP6500_CDS_SIZES=NM_001103161.1:1272,NM_001103160.1:1020;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=27;ESP6500_EA_AC=6257,2019;ESP6500_EA_GTC=2358,1541,239;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001103161.1:coding-synonymous,NM_001103160.1:coding-synonymous;ESP6500_GL=SH2D5;ESP6500_GRCh38_POSITION=1:20724465;ESP6500_GTC=4138,1700,243;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001103161.1:c.561G>A,NM_001103160.1:c.309G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001103161.1:p.(Q187),NM_001103160.1:p.(Q103);ESP6500_MAF=24.3958,4.2975,17.974;ESP6500_TAC=9976,2186	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1502,141,0
chr1	20726200	rs10916852	G	T	23.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.64;ReadPosRankSum=0.549;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10916852;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103161.1|protein_coding|4/9|c.244-134C>A||||||,T|intron_variant|MODIFIER|SH2D5|SH2D5|transcript|NM_001103160.1|protein_coding|3/8|c.-9-134C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=793;p3_1000G_AF=0.158347;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=17573;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.0696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21052693;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:52:52,0,270
chr1	20747500	rs72300054;~rs72300054	T	TA	260.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.945;SOR=0.936;INS;HET;VARTYPE=INS;dbSNP138_ID=rs72300054;dbSNPBuildID=138;ANN=TA|intron_variant|MODIFIER|HP1BP3|HP1BP3|transcript|NM_016287.3|protein_coding|11/12|c.1253+43dupT||||||;p3_1000G_AA=AGAATCA|A|AA|cryptic_indel;p3_1000G_AC=658;p3_1000G_AF=0.13139;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=17611;p3_1000G_EAS_AF=0.4187;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21073993;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=INDEL;ESP6500_AA_AC=137,4129;ESP6500_AA_GTC=0,137,1996;ESP6500_CDS_SIZES=NM_016287.3:1662;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=46;ESP6500_EA_AC=398,7856;ESP6500_EA_GTC=10,378,3739;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016287.3:intron;ESP6500_GL=HP1BP3;ESP6500_GRCh38_POSITION=1:20747500;ESP6500_GTC=10,515,5735;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_016287.3:c.1253+43_1253+44insT;ESP6500_MAF=4.8219,3.2114,4.2732;ESP6500_TAC=535,11985	GT:AD:DP:GQ:PL	0/1:15,10:25:99:298,0,487
chr1	20747728	rs76336624	T	C	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=-0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76336624;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|HP1BP3|HP1BP3|transcript|NM_016287.3|protein_coding|10/12|c.1142-73A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=332;p3_1000G_AF=0.0662939;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=16702;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21074221;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:53:130,0,53
chr1	20840911	rs2230573	A	G	1854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2230573;dbSNPBuildID=137;ANN=G|synonymous_variant|LOW|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|28/35|c.3946T>C|p.Leu1316Leu|4568/6515|3946/4866|1316/1621||,G|synonymous_variant|LOW|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|25/32|c.3838T>C|p.Leu1280Leu|4094/6041|3838/4758|1280/1585||,G|synonymous_variant|LOW|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|28/35|c.3856T>C|p.Leu1286Leu|4478/6425|3856/4776|1286/1591||;p3_1000G_AA=G|||;p3_1000G_AC=4696;p3_1000G_AF=0.9377;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=16791;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21167404;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3590,816;ESP6500_AA_AGE=324.5+/-298.6;ESP6500_AA_GTC=1461,668,74;ESP6500_CDS_SIZES=NM_003760.4:4758,NM_001198802.1:4776,NM_001198801.1:4866;ESP6500_CG=2.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=117;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003760.4:coding-synonymous,NM_001198802.1:coding-synonymous,NM_001198801.1:coding-synonymous;ESP6500_GL=EIF4G3;ESP6500_GRCh38_POSITION=1:20840911;ESP6500_GTC=5756,673,74;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003760.4:c.3838T>C,NM_001198802.1:c.3856T>C,NM_001198801.1:c.3946T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003760.4:p.(L1280),NM_001198802.1:p.(L1286),NM_001198801.1:p.(L1316);ESP6500_MAF=0.0581,18.5202,6.3125;ESP6500_TAC=12185,821	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1883,174,0
chr1	20841072	rs74857836	T	C	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.26;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74857836;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|27/34|c.3829-44A>G||||||,C|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|24/31|c.3721-44A>G||||||,C|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|27/34|c.3739-44A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=57;p3_1000G_AF=0.0113818;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17737;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21167565;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=23,4383;ESP6500_AA_AGE=27.2+/-55.0;ESP6500_AA_GTC=0,23,2180;ESP6500_CDS_SIZES=NM_003760.4:4758,NM_001198802.1:4776,NM_001198801.1:4866;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=36;ESP6500_EA_AC=16,8584;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=0,16,4284;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003760.4:intron,NM_001198802.1:intron,NM_001198801.1:intron;ESP6500_GL=EIF4G3;ESP6500_GRCh38_POSITION=1:20841072;ESP6500_GTC=0,39,6464;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003760.4:c.3721-44A>G,NM_001198802.1:c.3739-44A>G,NM_001198801.1:c.3829-44A>G;ESP6500_MAF=0.186,0.522,0.2999;ESP6500_TAC=39,12967	GT:AD:DP:GQ:PL	0/1:8,11:19:99:322,0,221
chr1	20849362	rs7525082	C	A	487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.67;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7525082;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|27/34|c.3828+53G>T||||||,A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|24/31|c.3720+53G>T||||||,A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|27/34|c.3738+53G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4694;p3_1000G_AF=0.9373;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=15547;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21175855;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:516,57,0
chr1	20849549	rs74654140	A	C	67.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.28;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74654140;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|26/34|c.3713-19T>G||||||,C|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|23/31|c.3605-19T>G||||||,C|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|26/34|c.3623-19T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=325;p3_1000G_AF=0.0648962;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=14898;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21176042;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:15:96,0,15
chr1	20853476	rs7542882	G	A	462.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7542882;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|25/34|c.3491+84C>T||||||,A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|22/31|c.3383+84C>T||||||,A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|25/34|c.3401+84C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4694;p3_1000G_AF=0.9373;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=20448;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21179969;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:491,42,0
chr1	20853520	rs3767244	C	T	268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.195;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.521;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767244;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|25/34|c.3491+40G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|22/31|c.3383+40G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|25/34|c.3401+40G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=328;p3_1000G_AF=0.0654952;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=19618;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21180013;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=87,4319;ESP6500_AA_AGE=72.5+/-110.5;ESP6500_AA_GTC=0,87,2116;ESP6500_CDS_SIZES=NM_003760.4:4758,NM_001198802.1:4776,NM_001198801.1:4866;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=182,8418;ESP6500_EA_AGE=82.0+/-144.6;ESP6500_EA_GTC=2,178,4120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003760.4:intron,NM_001198802.1:intron,NM_001198801.1:intron;ESP6500_GL=EIF4G3;ESP6500_GRCh38_POSITION=1:20853520;ESP6500_GTC=2,265,6236;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003760.4:c.3383+40G>A,NM_001198802.1:c.3401+40G>A,NM_001198801.1:c.3491+40G>A;ESP6500_MAF=2.1163,1.9746,2.0683;ESP6500_TAC=269,12737	GT:AD:DP:GQ:PL	0/1:8,11:19:99:297,0,249
chr1	20853688	rs2305463	C	T	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.279;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.023;SOR=1.318;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305463;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|24/34|c.3374-11G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|21/31|c.3266-11G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|24/34|c.3284-11G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2868;p3_1000G_AF=0.572684;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=19331;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.5477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21180181;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1779,2627;ESP6500_AA_AGE=523.8+/-371.2;ESP6500_AA_GTC=364,1051,788;ESP6500_CDS_SIZES=NM_003760.4:4758,NM_001198802.1:4776,NM_001198801.1:4866;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=87;ESP6500_EA_AC=4773,3827;ESP6500_EA_AGE=607.1+/-395.2;ESP6500_EA_GTC=1306,2161,833;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003760.4:intron,NM_001198802.1:intron,NM_001198801.1:intron;ESP6500_GL=EIF4G3;ESP6500_GRCh38_POSITION=1:20853688;ESP6500_GTC=1670,3212,1621;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003760.4:c.3266-11G>A,NM_001198802.1:c.3284-11G>A,NM_001198801.1:c.3374-11G>A;ESP6500_MAF=44.5,40.3768,49.6233;ESP6500_TAC=6552,6454	GT:AD:DP:GQ:PL	0/1:16,16:32:99:386,0,408
chr1	20853757	rs7543140	G	A	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7543140;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|24/34|c.3374-80C>T||||||,A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|21/31|c.3266-80C>T||||||,A|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|24/34|c.3284-80C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2936;p3_1000G_AF=0.586262;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=20169;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21180250;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:126,0,147
chr1	20862210	rs10916885	A	T	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.22;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.396;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10916885;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|21/34|c.3051+18T>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|18/31|c.2943+18T>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|21/34|c.2961+18T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2883;p3_1000G_AF=0.575679;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=15060;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.5477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21188703;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1732,2674;ESP6500_AA_GTC=364,1004,835;ESP6500_CDS_SIZES=NM_003760.4:4758,NM_001198802.1:4776,NM_001198801.1:4866;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=66;ESP6500_EA_AC=4685,3915;ESP6500_EA_GTC=1306,2073,921;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003760.4:intron,NM_001198802.1:intron,NM_001198801.1:intron;ESP6500_GL=EIF4G3;ESP6500_GRCh38_POSITION=1:20862210;ESP6500_GTC=1670,3077,1756;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_003760.4:c.2943+18T>A,NM_001198802.1:c.2961+18T>A,NM_001198801.1:c.3051+18T>A;ESP6500_MAF=45.5233,39.31,49.3388;ESP6500_TAC=6417,6589	GT:AD:DP:GQ:PL	0/1:17,13:30:99:359,0,381
chr1	21001144	rs1395508	C	T	679.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.37;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1395508;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|5/34|c.30+1569G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|3/31|c.30+1569G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|5/34|c.30+1569G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198803.2|protein_coding|5/12|c.30+1569G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4695;p3_1000G_AF=0.9375;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=17584;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21327637;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:708,63,0
chr1	21050821	rs6426663	C	T	318.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426663;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|4/34|c.-67+45G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_003760.4|protein_coding|2/31|c.-67+45G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|4/34|c.-67+45G>A||||||,T|intron_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198803.2|protein_coding|4/12|c.-67+45G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4691;p3_1000G_AF=0.936701;p3_1000G_AFR_AF=0.7731;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=16426;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21377314;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:347,33,0
chr1	21176231	rs769138453	T	TGCC	78.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.68;ReadPosRankSum=1.15;SOR=0.446;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=TGCC|5_prime_UTR_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|2/35|c.-331_-329dupGGC|||||173490|,TGCC|5_prime_UTR_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|2/35|c.-331_-329dupGGC|||||173490|	GT:AD:DP:GQ:PL	0/1:1,3:4:32:116,0,32
chr1	21176270	rs749796228	T	C	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.609;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=6.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=0.361;SOR=1.447;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|5_prime_UTR_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|2/35|c.-367A>G|||||173528|,C|5_prime_UTR_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|2/35|c.-367A>G|||||173528|	GT:AD:DP:GQ:PL	0/1:4,7:11:99:137,0,118
chr1	21176303	rs1280098685	TGCC	T	19.78	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.447;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=-0.66;SOR=0.527;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=T|5_prime_UTR_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198801.1|protein_coding|2/35|c.-403_-401delGGC|||||173562|,T|5_prime_UTR_variant|MODIFIER|EIF4G3|EIF4G3|transcript|NM_001198802.1|protein_coding|2/35|c.-403_-401delGGC|||||173562|	GT:AD:DP:GQ:PL	0/1:9,2:11:57:57,0,375
chr1	21227826	rs6426676	A	G	260.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426676;dbSNPBuildID=116;ANN=G|sequence_feature|LOW|ECE1|ECE1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001397.2|protein_coding|15/18|c.1781+105T>C||||||,G|sequence_feature|LOW|ECE1|ECE1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001113347.1|protein_coding|13/16|c.1745+105T>C||||||,G|sequence_feature|LOW|ECE1|ECE1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001113349.1|protein_coding|14/17|c.1772+105T>C||||||,G|sequence_feature|LOW|ECE1|ECE1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001113348.1|protein_coding|15/18|c.1733+105T>C||||||,G|intron_variant|MODIFIER|ECE1|ECE1|transcript|NM_001397.2|protein_coding|15/18|c.1781+105T>C||||||,G|intron_variant|MODIFIER|ECE1|ECE1|transcript|NM_001113347.1|protein_coding|13/16|c.1745+105T>C||||||,G|intron_variant|MODIFIER|ECE1|ECE1|transcript|NM_001113349.1|protein_coding|14/17|c.1772+105T>C||||||,G|intron_variant|MODIFIER|ECE1|ECE1|transcript|NM_001113348.1|protein_coding|15/18|c.1733+105T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4945;p3_1000G_AF=0.98742;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=19400;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21554319;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:289,24,0
chr1	21247119	.	C	A	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.367;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.543;SOR=2.066;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|ECE1|ECE1|transcript|NM_001397.2|protein_coding|9/18|c.1163+102G>T||||||,A|intron_variant|MODIFIER|ECE1|ECE1|transcript|NM_001113347.1|protein_coding|7/16|c.1127+102G>T||||||,A|intron_variant|MODIFIER|ECE1|ECE1|transcript|NM_001113349.1|protein_coding|8/17|c.1154+102G>T||||||,A|intron_variant|MODIFIER|ECE1|ECE1|transcript|NM_001113348.1|protein_coding|9/18|c.1115+102G>T||||||	GT:AD:DP:GQ:PL	0/1:9,6:15:99:168,0,267
chr1	21424575	rs71512975	C	G	1326.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=30.15;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71512975;dbSNPBuildID=130;ANN=G|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21424575C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4404;p3_1000G_AF=0.879393;p3_1000G_AFR_AF=0.6014;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=29156;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21751068;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1355,132,0
chr1	21424649	rs4466620	A	G	1667.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.114;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.42;MQRankSum=-0.739;QD=19.62;ReadPosRankSum=-2.295;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150916531;dbSNPBuildID=111;ANN=G|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21424649A>G||||||	GT:AD:DP:GQ:PL	0/1:19,66:85:99:1696,0,312
chr1	21424721	rs4291472	G	A	1469.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.655;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=0.676;MLEAC=1;MLEAF=0.5;MQ=38.57;MQRankSum=-1.034;QD=11.95;ReadPosRankSum=1.21;SOR=0.585;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72476501;dbSNPBuildID=111;ANN=A|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21424721G>A||||||	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1498,0,1341
chr1	21426273	rs3928620	A	G	129.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.733;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.83;MLEAC=1;MLEAF=0.5;MQ=38.01;MQRankSum=0.091;QD=6.83;ReadPosRankSum=0.712;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144829292;dbSNPBuildID=108;ANN=G|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21426273A>G||||||	GT:AD:DP:GQ:PL	0/1:12,7:19:99:158,0,257
chr1	21426289	rs140348908	T	G	131.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.307;MLEAC=1;MLEAF=0.5;MQ=35.83;MQRankSum=0.421;QD=8.24;ReadPosRankSum=-0.227;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140348908;dbSNPBuildID=134;ANN=G|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21426289T>G||||||	GT:AD:DP:GQ:PL	0/1:10,6:16:99:160,0,242
chr1	21426337	rs139145324	C	T	12.99	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.464;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=32.79;MQRankSum=0.514;QD=1.62;ReadPosRankSum=-0.18;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139145324;dbSNPBuildID=134;ANN=T|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21426337C>T||||||	GT:AD:DP:GQ:PL	0/1:6,2:8:41:41,0,150
chr1	21426975	rs200991536	T	A	242.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.291;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=29.87;MQRankSum=-0.269;QD=15.17;ReadPosRankSum=1.05;SOR=0.707;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200991536;dbSNPBuildID=137;ANN=A|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21426975T>A||||||	GT:AD:DP:GQ:PL	0/1:4,12:16:87:271,0,87
chr1	21427069	rs146549873	A	C	356.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.43;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=20.27;MLEAC=1;MLEAF=0.5;MQ=31.07;MQRankSum=-2.888;QD=13.72;ReadPosRankSum=0;SOR=0.219;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146549873;dbSNPBuildID=134;ANN=C|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21427069A>C||||||	GT:AD:DP:GQ:PL	0/1:9,17:26:99:385,0,232
chr1	21427790	rs6426689	A	C	800.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.23;QD=32.03;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426689;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21427790A>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=4397;p3_1000G_AF=0.877995;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=19266;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21754283;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:829,75,0
chr1	21428503	rs12024079	C	T	829.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.66;QD=33.19;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12024079;dbSNPBuildID=120;ANN=T|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21428503C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=4372;p3_1000G_AF=0.873003;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=8923;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21754996;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:858,75,0
chr1	21428562	rs12024104	C	A	737.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.32;QD=33.53;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12024104;dbSNPBuildID=120;ANN=A|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21428562C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3421;p3_1000G_AF=0.683107;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=11565;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.8529;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21755055;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:766,66,0
chr1	21428642	rs41302024	T	G	642.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.97;QD=35.16;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41302024;dbSNPBuildID=127;ANN=G|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21428642T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2383;p3_1000G_AF=0.475839;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=12610;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.5328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21755135;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:671,54,0
chr1	21428854	rs41310392	C	T	1655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.87;QD=28.55;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41310392;dbSNPBuildID=127;ANN=T|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21428854C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2384;p3_1000G_AF=0.476038;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=18068;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.5318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21755347;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1684,174,0
chr1	21428960	rs3856177	G	A	676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.91;QD=33.84;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3856177;dbSNPBuildID=108;ANN=A|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21428960G>A||||||	GT:AD:DP:GQ:PL	1/1:0,20:20:60:705,60,0
chr1	21429046	rs3855556	C	A	649.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.83;QD=32.49;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3855556;dbSNPBuildID=108;ANN=A|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21429046C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3445;p3_1000G_AF=0.687899;p3_1000G_AFR_AF=0.3896;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=15861;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.8559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21755539;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:678,60,0
chr1	21429263	rs7532463	G	C	3025.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.82;QD=32.54;SOR=0.901;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56343055;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21429263G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3448;p3_1000G_AF=0.688498;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs56343055;p3_1000G_DP=18772;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.8559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21755756;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3054,279,0
chr1	21429374	rs7522332	A	G	2602.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.34;QD=30.99;SOR=1.347;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7522332;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21429374A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3448;p3_1000G_AF=0.688498;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=10050;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.8559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21755867;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2631,252,0
chr1	21429413	rs3738922	G	A	1868.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.42;QD=31.15;SOR=1.812;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738922;dbSNPBuildID=108;ANN=A|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21429413G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3448;p3_1000G_AF=0.688498;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=10018;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.8559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21755906;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1897,180,0
chr1	21429515	rs3894725	G	T	564.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.59;QD=29.69;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3894725;dbSNPBuildID=108;ANN=T|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21429515G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3449;p3_1000G_AF=0.688698;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=14612;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.8559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21756008;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:593,48,0
chr1	21429576	rs7532750	G	A	336.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.12;QD=33.68;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7532750;dbSNPBuildID=116;ANN=A|intergenic_region|MODIFIER|ECE1-NBPF3|ECE1-NBPF3|intergenic_region|ECE1-NBPF3|||n.21429576G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3449;p3_1000G_AF=0.688698;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=13246;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.8559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21756069;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:365,30,0
chr1	21449899	rs10737457	A	C	556.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.03;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.072;SOR=0.825;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10737457;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|2/14|c.133+4680A>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|2/14|c.133+4680A>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|2/13|c.133+4680A>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|2/17|n.531+4680A>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2739;p3_1000G_AF=0.546925;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=18885;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.5696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21776392;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,20:46:99:585,0,641
chr1	21449970	rs6426690	A	G	802.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426690;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|2/14|c.133+4751A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|2/14|c.133+4751A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|2/13|c.133+4751A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|2/17|n.531+4751A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17676;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21776463;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:831,66,0
chr1	21466196	rs372921591	C	T	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.622;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.772;MLEAC=1;MLEAF=0.5;MQ=50.3;MQRankSum=0.286;QD=8.1;ReadPosRankSum=-0.816;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372921591;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|2/14|c.134-2492C>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|2/14|c.134-2492C>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|2/13|c.134-4436C>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|3/17|n.601+40C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=705;p3_1000G_AF=0.140775;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=13883;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21792689;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:174,0,344
chr1	21466209	rs10710110	CA	C	444.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.17;QD=34.21;SOR=3.767;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10710110;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|2/14|c.134-2477delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|2/14|c.134-2477delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|2/13|c.134-4421delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|3/17|n.601+55delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,13:13:39:482,39,0
chr1	21468939	rs35175190	G	GA	1250.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=2.765;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35175190;dbSNPBuildID=126;ANN=GA|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|3/14|c.343+42_343+43insA||||||,GA|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|3/14|c.343+42_343+43insA||||||,GA|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|2/13|c.134-1693_134-1692insA||||||,GA|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|6/17|n.1270+42_1270+43insA||||||;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=1416;p3_1000G_AF=0.282748;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=20327;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21795432;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=INDEL;ESP6500_AA_AC=1113,3153;ESP6500_AA_GTC=151,811,1171;ESP6500_CDS_SIZES=NM_032264.3:1902,NM_001256417.1:1692,NM_001256416.1:1866;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=33;ESP6500_EA_AC=1468,6786;ESP6500_EA_GTC=123,1222,2782;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032264.3:intron,NM_001256417.1:intron,NM_001256416.1:intron;ESP6500_GL=NBPF3;ESP6500_GRCh38_POSITION=1:21468939;ESP6500_GTC=274,2033,3953;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_032264.3:c.343+42_343+43insA,NM_001256417.1:c.134-1693_134-1692insA,NM_001256416.1:c.343+42_343+43insA;ESP6500_MAF=17.7853,26.09,20.615;ESP6500_TAC=2581,9939	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1288,96,0
chr1	21472996	rs1971327	T	C	799.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1971327;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|6/14|c.734+81T>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|6/14|c.734+81T>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|5/13|c.524+81T>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|9/17|n.1661+81T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3754;p3_1000G_AF=0.749601;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=21945;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21799489;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:828,75,0
chr1	21473330	rs1971328	A	G	941.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.85;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1971328;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|6/14|c.735-50A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|6/14|c.735-50A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|5/13|c.525-50A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|9/17|n.1662-50A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3538;p3_1000G_AF=0.70647;p3_1000G_AFR_AF=0.438;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=22817;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21799823;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8947;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2107,2299;ESP6500_AA_GTC=526,1055,622;ESP6500_CDS_SIZES=NM_032264.3:1902,NM_001256417.1:1692,NM_001256416.1:1866;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=60;ESP6500_EA_AC=6263,2337;ESP6500_EA_GTC=2292,1679,329;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032264.3:intron,NM_001256417.1:intron,NM_001256416.1:intron;ESP6500_GL=NBPF3;ESP6500_GRCh38_POSITION=1:21473330;ESP6500_GTC=2818,2734,951;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032264.3:c.735-50A>G,NM_001256417.1:c.525-50A>G,NM_001256416.1:c.735-50A>G;ESP6500_MAF=27.1744,47.8212,35.6451;ESP6500_TAC=8370,4636	GT:AD:DP:GQ:PL	1/1:0,23:23:69:970,69,0
chr1	21473431	rs80145424	G	A	980.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.802;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.213;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80145424;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|7/15|c.786G>A|p.Glu262Glu|1184/3814|786/1902|262/633||,A|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|7/15|c.786G>A|p.Glu262Glu|1184/3778|786/1866|262/621||,A|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|6/14|c.576G>A|p.Glu192Glu|974/3604|576/1692|192/563||,A|non_coding_transcript_exon_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|10/18|n.1713G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=257;p3_1000G_AF=0.0513179;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=20864;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.0249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21799924;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=59,4347;ESP6500_AA_GTC=0,59,2144;ESP6500_CDS_SIZES=NM_032264.3:1902,NM_001256417.1:1692,NM_001256416.1:1866;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=208;ESP6500_EA_AC=146,8454;ESP6500_EA_GTC=2,142,4156;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032264.3:coding-synonymous,NM_001256417.1:coding-synonymous,NM_001256416.1:coding-synonymous;ESP6500_GL=NBPF3;ESP6500_GRCh38_POSITION=1:21473431;ESP6500_GTC=2,201,6300;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032264.3:c.786G>A,NM_001256417.1:c.576G>A,NM_001256416.1:c.786G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032264.3:p.(E262),NM_001256417.1:p.(E192),NM_001256416.1:p.(E262);ESP6500_MAF=1.6977,1.3391,1.5762;ESP6500_TAC=205,12801	GT:AD:DP:GQ:PL	0/1:41,37:78:99:1009,0,1115
chr1	21473692	rs7520015	T	G	901.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7520015;dbSNPBuildID=116;ANN=G|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_2|NM_032264.4|protein_coding|7/14|c.940+107T>G||||||,G|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_2|NM_001256417.2|protein_coding|6/13|c.730+107T>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|7/14|c.940+107T>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|7/14|c.940+107T>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|6/13|c.730+107T>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|10/17|n.1867+107T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3754;p3_1000G_AF=0.749601;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=21949;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21800185;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:930,72,0
chr1	21474853	rs7531217	G	A	534.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7531217;dbSNPBuildID=116;ANN=A|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_2|NM_032264.4|protein_coding|7/14|c.941-47G>A||||||,A|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_2|NM_001256417.2|protein_coding|6/13|c.731-47G>A||||||,A|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|7/14|c.941-47G>A||||||,A|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|7/14|c.941-47G>A||||||,A|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|6/13|c.731-47G>A||||||,A|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|10/17|n.1868-47G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3754;p3_1000G_AF=0.749601;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=19581;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21801346;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2519,1887;ESP6500_AA_GTC=747,1025,431;ESP6500_CDS_SIZES=NM_032264.3:1902,NM_001256417.1:1692,NM_001256416.1:1866;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=96;ESP6500_EA_AC=6697,1903;ESP6500_EA_GTC=2610,1477,213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032264.3:intron,NM_001256417.1:intron,NM_001256416.1:intron;ESP6500_GL=NBPF3;ESP6500_GRCh38_POSITION=1:21474853;ESP6500_GTC=3357,2502,644;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032264.3:c.941-47G>A,NM_001256417.1:c.731-47G>A,NM_001256416.1:c.941-47G>A;ESP6500_MAF=22.1279,42.828,29.1404;ESP6500_TAC=9216,3790	GT:AD:DP:GQ:PL	1/1:0,18:18:54:563,54,0
chr1	21478322	rs7535654	T	G	1529.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.9;SOR=1.775;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7535654;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|9/14|c.1156+15T>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|9/14|c.1120+126T>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|8/13|c.946+15T>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|12/17|n.2083+15T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4718;p3_1000G_AF=0.942093;p3_1000G_AFR_AF=0.7965;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=20801;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21804815;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3582,824;ESP6500_AA_GTC=1453,676,74;ESP6500_CDS_SIZES=NM_032264.3:1902,NM_001256417.1:1692,NM_001256416.1:1866;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=166;ESP6500_EA_AC=8591,9;ESP6500_EA_GTC=4291,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032264.3:intron,NM_001256417.1:intron,NM_001256416.1:intron;ESP6500_GL=NBPF3;ESP6500_GRCh38_POSITION=1:21478322;ESP6500_GTC=5744,685,74;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_032264.3:c.1156+15T>G,NM_001256417.1:c.946+15T>G,NM_001256416.1:c.1120+126T>G;ESP6500_MAF=0.1047,18.7018,6.4047;ESP6500_TAC=12173,833	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1558,129,0
chr1	21479237	rs2316504	A	G	1169.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=3.477;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2316504;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|9/14|c.1157-112A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|9/14|c.1121-112A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|8/13|c.947-112A>G||||||,G|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|12/17|n.2084-112A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3755;p3_1000G_AF=0.7498;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=21140;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21805730;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1198,93,0
chr1	21479485	rs4654948	G	A	1113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4654948;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|10/14|c.1208+85G>A||||||,A|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|10/14|c.1172+85G>A||||||,A|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|9/13|c.998+85G>A||||||,A|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|13/17|n.2135+85G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3752;p3_1000G_AF=0.749201;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=23456;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21805978;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1142,108,0
chr1	21480032	rs41290414	A	T	183.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.281;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.92;MQRankSum=-0.502;QD=14.14;ReadPosRankSum=-1.05;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41290414;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|10/14|c.1209-19A>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|10/14|c.1173-19A>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|9/13|c.999-19A>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|13/17|n.2136-19A>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=714;p3_1000G_AF=0.142572;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=17876;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21806525;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=130,4212;ESP6500_AA_GTC=2,126,2043;ESP6500_CDS_SIZES=NM_032264.3:1902,NM_001256417.1:1692,NM_001256416.1:1866;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=23;ESP6500_EA_AC=1309,7121;ESP6500_EA_GTC=137,1035,3043;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032264.3:intron,NM_001256417.1:intron,NM_001256416.1:intron;ESP6500_GL=NBPF3;ESP6500_GRCh38_POSITION=1:21480032;ESP6500_GTC=139,1161,5086;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_032264.3:c.1209-19A>T,NM_001256417.1:c.999-19A>T,NM_001256416.1:c.1173-19A>T;ESP6500_MAF=15.5279,2.994,11.2668;ESP6500_TAC=1439,11333	GT:AD:DP:GQ:PL	0/1:5,8:13:99:212,0,121
chr1	21480258	rs12083322	C	T	366.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.18;QD=27.99;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12083322;dbSNPBuildID=120;ANN=T|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_4|NM_032264.4|protein_coding|11/14|c.1381+35C>T||||||,T|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_4|NM_001256416.2|protein_coding|11/14|c.1345+35C>T||||||,T|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_4|NM_001256417.2|protein_coding|10/13|c.1171+35C>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|11/14|c.1381+35C>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|11/14|c.1345+35C>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|10/13|c.1171+35C>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|14/17|n.2308+35C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1730;p3_1000G_AF=0.345447;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=18505;p3_1000G_EAS_AF=0.2837;p3_1000G_EUR_AF=0.2475;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21806751;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1342,2962;ESP6500_AA_GTC=360,622,1170;ESP6500_CDS_SIZES=NM_032264.3:1902,NM_001256417.1:1692,NM_001256416.1:1866;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=24;ESP6500_EA_AC=2144,5248;ESP6500_EA_GTC=759,626,2311;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032264.3:intron,NM_001256417.1:intron,NM_001256416.1:intron;ESP6500_GL=NBPF3;ESP6500_GRCh38_POSITION=1:21480258;ESP6500_GTC=1119,1248,3481;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032264.3:c.1381+35C>T,NM_001256417.1:c.1171+35C>T,NM_001256416.1:c.1345+35C>T;ESP6500_MAF=29.0043,31.1803,29.8051;ESP6500_TAC=3486,8210	GT:AD:DP:GQ:PL	1/1:0,10:10:30:395,30,0
chr1	21480874	rs201117263	TA	T	75.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=25.08;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs201117263;dbSNPBuildID=137;ANN=T|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_4|NM_032264.4|protein_coding|11/14|c.1382-55delA||||||,T|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_4|NM_001256416.2|protein_coding|11/14|c.1346-55delA||||||,T|sequence_feature|LOW|NBPF3|NBPF3|domain:NBPF_4|NM_001256417.2|protein_coding|10/13|c.1172-55delA||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|11/14|c.1382-54delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|11/14|c.1346-54delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|10/13|c.1172-54delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|14/17|n.2309-54delA||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=341,2867;ESP6500_AA_GTC=156,29,1419;ESP6500_CDS_SIZES=NM_032264.3:1902,NM_001256417.1:1692,NM_001256416.1:1866;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DP=11;ESP6500_EA_AC=1272,3454;ESP6500_EA_GTC=597,78,1688;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032264.3:intron,NM_001256417.1:intron,NM_001256416.1:intron;ESP6500_GL=NBPF3;ESP6500_GRCh38_POSITION=1:21480874;ESP6500_GTC=753,107,3107;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_032264.3:c.1382-55del1,NM_001256417.1:c.1172-55del1,NM_001256416.1:c.1346-55del1;ESP6500_MAF=26.9149,10.6297,20.3302;ESP6500_TAC=1613,6321	GT:AD:DP:GQ:PL	1/1:0,3:3:9:112,9,0
chr1	21481028	rs56246814	A	T	294.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.022;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.31;MQRankSum=0.725;QD=8.19;ReadPosRankSum=0.372;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200206527;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|12/14|c.1433+47A>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|12/14|c.1397+47A>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|11/13|c.1223+47A>T||||||,T|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|15/17|n.2360+47A>T||||||	GT:AD:DP:GQ:PL	0/1:20,16:36:99:323,0,423
chr1	21481666	rs71512991	G	A	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.127;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.68;MQRankSum=-1.723;QD=10.19;ReadPosRankSum=-1.278;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71512991;dbSNPBuildID=130;ANN=A|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|13/15|c.1503G>A|p.Ser501Ser|1901/3814|1503/1902|501/633||,A|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|13/15|c.1467G>A|p.Ser489Ser|1865/3778|1467/1866|489/621||,A|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|12/14|c.1293G>A|p.Ser431Ser|1691/3604|1293/1692|431/563||,A|non_coding_transcript_exon_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|16/18|n.2430G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2339;p3_1000G_AF=0.467053;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=23166;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21808159;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,15:30:99:334,0,373
chr1	21481714	rs61779178	A	C	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.2;MQRankSum=-2.457;QD=12.83;ReadPosRankSum=0.461;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146564096;dbSNPBuildID=130;ANN=C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|13/15|c.1551A>C|p.Gly517Gly|1949/3814|1551/1902|517/633||,C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|13/15|c.1515A>C|p.Gly505Gly|1913/3778|1515/1866|505/621||,C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|12/14|c.1341A>C|p.Gly447Gly|1739/3604|1341/1692|447/563||,C|non_coding_transcript_exon_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|16/18|n.2478A>C||||||	GT:AD:DP:GQ:PL	0/1:9,10:19:99:272,0,251
chr1	21481730	rs145079058	T	C	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.631;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.79;MQRankSum=-2.209;QD=12.82;ReadPosRankSum=-0.093;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145079058;dbSNPBuildID=134;ANN=C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|13/15|c.1567T>C|p.Leu523Leu|1965/3814|1567/1902|523/633||,C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|13/15|c.1531T>C|p.Leu511Leu|1929/3778|1531/1866|511/621||,C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|12/14|c.1357T>C|p.Leu453Leu|1755/3604|1357/1692|453/563||,C|non_coding_transcript_exon_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|16/18|n.2494T>C||||||	GT:AD:DP:GQ:PL	0/1:8,10:18:99:259,0,232
chr1	21483031	rs2800941	A	C	96.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.68;QD=32.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71512993;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|14/14|c.1659-112A>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|14/14|c.1623-112A>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|13/13|c.1449-112A>C||||||,C|intron_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|17/17|n.2586-112A>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3726;p3_1000G_AF=0.74401;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs71512993;p3_1000G_DP=8616;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.7624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21809524;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:124,9,0
chr1	21483257	rs2651399	T	C	224.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.14;QD=27.62;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs202069483;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|15/15|c.1773T>C|p.Tyr591Tyr|2171/3814|1773/1902|591/633||,C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|15/15|c.1737T>C|p.Tyr579Tyr|2135/3778|1737/1866|579/621||,C|synonymous_variant|LOW|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|14/14|c.1563T>C|p.Tyr521Tyr|1961/3604|1563/1692|521/563||,C|non_coding_transcript_exon_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|18/18|n.2700T>C||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:18:253,18,0
chr1	21483357	rs199951062	T	C	84.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.5;MQRankSum=1.65;QD=16.95;ReadPosRankSum=-0.126;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199951062;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|15/15|c.1873T>C|p.Phe625Leu|2271/3814|1873/1902|625/633||,C|missense_variant|MODERATE|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|15/15|c.1837T>C|p.Phe613Leu|2235/3778|1837/1866|613/621||,C|missense_variant|MODERATE|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|14/14|c.1663T>C|p.Phe555Leu|2061/3604|1663/1692|555/563||,C|non_coding_transcript_exon_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|18/18|n.2800T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=285;p3_1000G_AF=0.0569089;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=14064;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21809850;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:64:113,0,64
chr1	21483431	rs1966022	G	C	100.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=33.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200210375;dbSNPBuildID=92;ANN=C|3_prime_UTR_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_032264.4|protein_coding|15/15|c.*45G>C|||||45|,C|3_prime_UTR_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256416.2|protein_coding|15/15|c.*45G>C|||||45|,C|3_prime_UTR_variant|MODIFIER|NBPF3|NBPF3|transcript|NM_001256417.2|protein_coding|14/14|c.*45G>C|||||45|,C|non_coding_transcript_exon_variant|MODIFIER|NBPF3|NBPF3|transcript|NR_046176.2|pseudogene|18/18|n.2874G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=4969;p3_1000G_AF=0.992212;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200210375;p3_1000G_DP=15563;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21809924;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:128,9,0
chr1	21563142	rs1780316;197678	T	C	1858.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.5;SOR=0.726;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1780316;dbSNPBuildID=89;ANN=C|sequence_feature|MODERATE|ALPL|ALPL|modified-residue:Phosphoserine|NM_000478.5|protein_coding|5/12|c.330T>C||||||,C|sequence_feature|MODERATE|ALPL|ALPL|modified-residue:Phosphoserine|NM_001127501.3|protein_coding|4/11|c.165T>C||||||,C|sequence_feature|MODERATE|ALPL|ALPL|modified-residue:Phosphoserine|NM_001177520.2|protein_coding|3/10|c.99T>C||||||,C|synonymous_variant|LOW|ALPL|ALPL|transcript|NM_000478.5|protein_coding|5/12|c.330T>C|p.Ser110Ser|594/2603|330/1575|110/524||,C|synonymous_variant|LOW|ALPL|ALPL|transcript|NM_001127501.3|protein_coding|4/11|c.165T>C|p.Ser55Ser|429/2438|165/1410|55/469||,C|synonymous_variant|LOW|ALPL|ALPL|transcript|NM_001177520.2|protein_coding|3/10|c.99T>C|p.Ser33Ser|313/2322|99/1344|33/447||,C|sequence_feature|LOW|ALPL|ALPL|active-site:Phosphoserine_intermediate|NM_000478.5|protein_coding|5/12|c.330T>C||||||,C|sequence_feature|LOW|ALPL|ALPL|metal-binding-site:Zinc_1|NM_000478.5|protein_coding|5/12|c.330T>C||||||,C|sequence_feature|LOW|ALPL|ALPL|active-site:Phosphoserine_intermediate|NM_001127501.3|protein_coding|4/11|c.165T>C||||||,C|sequence_feature|LOW|ALPL|ALPL|metal-binding-site:Zinc_1|NM_001127501.3|protein_coding|4/11|c.165T>C||||||,C|sequence_feature|LOW|ALPL|ALPL|active-site:Phosphoserine_intermediate|NM_001177520.2|protein_coding|3/10|c.99T>C||||||,C|sequence_feature|LOW|ALPL|ALPL|metal-binding-site:Zinc_1|NM_001177520.2|protein_coding|3/10|c.99T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4655;p3_1000G_AF=0.929513;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=16617;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.9374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21889635;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3824,582;ESP6500_AA_AGE=251.2+/-258.0;ESP6500_AA_GTC=1671,482,50;ESP6500_CDS_SIZES=NM_001177520.1:1344,NM_001127501.2:1410,NM_000478.4:1575;ESP6500_CG=-3.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=67;ESP6500_EA_AC=8164,436;ESP6500_EA_AGE=132.5+/-190.1;ESP6500_EA_GTC=3872,420,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001177520.1:coding-synonymous,NM_001127501.2:coding-synonymous,NM_000478.4:coding-synonymous;ESP6500_GL=ALPL;ESP6500_GRCh38_POSITION=1:21563142;ESP6500_GTC=5543,902,58;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001177520.1:c.99T>C,NM_001127501.2:c.165T>C,NM_000478.4:c.330T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001177520.1:p.(S33),NM_001127501.2:p.(S55),NM_000478.4:p.(S110);ESP6500_MAF=5.0698,13.2093,7.8272;ESP6500_TAC=11988,1018;CLINVAR_ALLELEID=194839;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.21563142T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ALPL:249;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1780316	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1887,177,0
chr1	21563893	rs1256335	G	A	726.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1256335;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|ALPL|ALPL|transcript|NM_000478.5|protein_coding|5/11|c.473-148G>A||||||,A|intron_variant|MODIFIER|ALPL|ALPL|transcript|NM_001127501.3|protein_coding|4/10|c.308-148G>A||||||,A|intron_variant|MODIFIER|ALPL|ALPL|transcript|NM_001177520.2|protein_coding|3/9|c.242-148G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4156;p3_1000G_AF=0.829872;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.8646;p3_1000G_AN=5008;p3_1000G_DP=13904;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.7803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21890386;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:755,63,0
chr1	21563971	rs1767428	A	G	1560.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.59;SOR=4.223;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1767428;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ALPL|ALPL|transcript|NM_000478.5|protein_coding|5/11|c.473-70A>G||||||,G|intron_variant|MODIFIER|ALPL|ALPL|transcript|NM_001127501.3|protein_coding|4/10|c.308-70A>G||||||,G|intron_variant|MODIFIER|ALPL|ALPL|transcript|NM_001177520.2|protein_coding|3/9|c.242-70A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4940;p3_1000G_AF=0.986422;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=11002;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21890464;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1589,132,0
chr1	21577713	rs1697405;295558	C	T	328.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.72;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1697405;dbSNPBuildID=89;ANN=T|3_prime_UTR_variant|MODIFIER|ALPL|ALPL|transcript|NM_000478.5|protein_coding|12/12|c.*65C>T|||||65|,T|3_prime_UTR_variant|MODIFIER|ALPL|ALPL|transcript|NM_001127501.3|protein_coding|11/11|c.*65C>T|||||65|,T|3_prime_UTR_variant|MODIFIER|ALPL|ALPL|transcript|NM_001177520.2|protein_coding|10/10|c.*65C>T|||||65|;p3_1000G_AA=c|||;p3_1000G_AC=1686;p3_1000G_AF=0.336661;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=14724;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21904206;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.3367;CLINVAR_ALLELEID=279050;CLINVAR_CLNDISDB=MedGen:C0020630,Orphanet:ORPHA436;CLINVAR_CLNDN=Hypophosphatasia;CLINVAR_CLNHGVS=NC_000001.11:g.21577713C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:250161;CLINVAR_GENEINFO=ALPL:249;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1697405	GT:AD:DP:GQ:PL	1/1:0,9:9:27:357,27,0
chr1	21598615	rs2794278	T	C	234.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2794278;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|21/24|c.1969-113A>G||||||,C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|23/26|c.1855-113A>G||||||,C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|21/24|c.1777-113A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4673;p3_1000G_AF=0.933107;p3_1000G_AFR_AF=0.9312;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=17956;p3_1000G_EAS_AF=0.9812;p3_1000G_EUR_AF=0.8907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21925108;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:263,21,0
chr1	21599694	rs1767445	C	T	270.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1767445;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|20/24|c.1845-77G>A||||||,T|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|22/26|c.1731-77G>A||||||,T|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|20/24|c.1653-77G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2708;p3_1000G_AF=0.540735;p3_1000G_AFR_AF=0.4062;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=16014;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.5189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21926187;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:21599694_C_T:299,24,0
chr1	21601851	rs2275366	C	G	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.039;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.145;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275366;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|19/24|c.1731-54G>C||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|21/26|c.1617-54G>C||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|19/24|c.1539-54G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1939;p3_1000G_AF=0.387181;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=16843;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21928344;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:219,0,331
chr1	21602767	rs829368	A	G	1024.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs829368;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|19/24|c.1730+37T>C||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|21/26|c.1616+37T>C||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|19/24|c.1538+37T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4669;p3_1000G_AF=0.932308;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=18648;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21929260;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4042,360;ESP6500_AA_AGE=170.9+/-201.2;ESP6500_AA_GTC=1854,334,13;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=51;ESP6500_EA_AC=7787,813;ESP6500_EA_AGE=178.5+/-227.8;ESP6500_EA_GTC=3529,729,42;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002885.2:intron,NM_001145658.1:intron,NM_001145657.1:intron;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21602767;ESP6500_GTC=5383,1063,55;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.1538+37T>C,NM_001145658.1:c.1730+37T>C,NM_001145657.1:c.1616+37T>C;ESP6500_MAF=9.4535,8.1781,9.0217;ESP6500_TAC=11829,1173	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1053,102,0
chr1	21602963	rs3215988	GC	G	238.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.53;SOR=3.056;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3215988;dbSNPBuildID=106;ANN=G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|18/24|c.1621-51delG||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|20/26|c.1507-51delG||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|18/24|c.1429-51delG||||||;p3_1000G_AA=?|CCCCCCCC|CCCCCCC|unsure;p3_1000G_AC=3705;p3_1000G_AF=0.739816;p3_1000G_AFR_AF=0.7519;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=17395;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21929456;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:27:276,27,0
chr1	21606037	rs1767443	C	A	369.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1767443;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|18/24|c.1620+29G>T||||||,A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|19/26|c.1428+29G>T||||||,A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|18/24|c.1428+29G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3988;p3_1000G_AF=0.796326;p3_1000G_AFR_AF=0.7337;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=13130;p3_1000G_EAS_AF=0.9484;p3_1000G_EUR_AF=0.7455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21932530;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3222,1082;ESP6500_AA_GTC=1217,788,147;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=10;ESP6500_EA_AC=6685,1763;ESP6500_EA_GTC=2666,1353,205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002885.2:intron,NM_001145658.1:intron,NM_001145657.1:intron;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21606037;ESP6500_GTC=3883,2141,352;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.1428+29G>T,NM_001145658.1:c.1620+29G>T,NM_001145657.1:c.1428+29G>T;ESP6500_MAF=20.8688,25.1394,22.3102;ESP6500_TAC=9907,2845	GT:AD:DP:GQ:PL	1/1:0,13:13:39:398,39,0
chr1	21606132	rs2275365	G	A	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.639;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275365;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|18/25|c.1554C>T|p.Thr518Thr|1587/3301|1554/2184|518/727||,A|synonymous_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|19/27|c.1362C>T|p.Thr454Thr|1727/3495|1362/2046|454/681||,A|synonymous_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|18/25|c.1362C>T|p.Thr454Thr|1620/3334|1362/1992|454/663||;p3_1000G_AA=g|||;p3_1000G_AC=704;p3_1000G_AF=0.140575;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=14581;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.0765;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21932625;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=217,4183;ESP6500_AA_GTC=3,211,1986;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=-10.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=893,7685;ESP6500_EA_GTC=43,807,3439;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002885.2:coding-synonymous,NM_001145658.1:coding-synonymous,NM_001145657.1:coding-synonymous;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21606132;ESP6500_GTC=46,1018,5425;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.1362C>T,NM_001145658.1:c.1554C>T,NM_001145657.1:c.1362C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002885.2:p.(T454),NM_001145658.1:p.(T518),NM_001145657.1:p.(T454);ESP6500_MAF=10.4104,4.9318,8.5529;ESP6500_TAC=1110,11868	GT:AD:DP:GQ:PL	0/1:13,11:24:99:262,0,370
chr1	21608174	rs829371	G	A	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.541;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-1.265;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs829371;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|17/24|c.1488+39C>T||||||,A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|18/26|c.1296+39C>T||||||,A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|17/24|c.1296+39C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2246;p3_1000G_AF=0.448482;p3_1000G_AFR_AF=0.4675;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=13069;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.502;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21934667;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2011,2393;ESP6500_AA_AGE=611.8+/-391.8;ESP6500_AA_GTC=473,1065,664;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=38;ESP6500_EA_AC=4467,4133;ESP6500_EA_AGE=559.7+/-387.5;ESP6500_EA_GTC=1152,2163,985;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002885.2:intron,NM_001145658.1:intron,NM_001145657.1:intron;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21608174;ESP6500_GTC=1625,3228,1649;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.1296+39C>T,NM_001145658.1:c.1488+39C>T,NM_001145657.1:c.1296+39C>T;ESP6500_MAF=48.0581,45.663,49.8154;ESP6500_TAC=6478,6526	GT:AD:DP:GQ:PL	0/1:9,8:17:99:197,0,232
chr1	21608940	rs861212	G	T	780.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs861212;dbSNPBuildID=86;ANN=T|splice_region_variant&intron_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|15/24|c.1264-4C>A||||||,T|splice_region_variant&intron_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|16/26|c.1072-4C>A||||||,T|splice_region_variant&intron_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|15/24|c.1072-4C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2277;p3_1000G_AF=0.454673;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=19807;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.4533;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21935433;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1161,3245;ESP6500_AA_AGE=409.3+/-334.9;ESP6500_AA_GTC=145,871,1187;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=115;ESP6500_EA_AC=4240,4360;ESP6500_EA_AGE=572.1+/-389.7;ESP6500_EA_GTC=1075,2090,1135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002885.2:intron,NM_001145658.1:intron,NM_001145657.1:intron;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21608940;ESP6500_GTC=1220,2961,2322;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.1072-4C>A,NM_001145658.1:c.1264-4C>A,NM_001145657.1:c.1072-4C>A;ESP6500_MAF=49.3023,26.3504,41.527;ESP6500_TAC=5401,7605	GT:AD:DP:GQ:PL	1/1:0,26:26:78:809,78,0
chr1	21611882	rs2275364	T	G	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.842;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=1.913;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.852;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275364;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|11/24|c.805-66A>C||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|12/26|c.613-66A>C||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|11/24|c.613-66A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1332;p3_1000G_AF=0.265974;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=15542;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.3579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21938375;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:331,0,232
chr1	21613000	rs3767113	G	C	87.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.666;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=-1.406;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767113;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|10/24|c.720+176C>G||||||,C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|11/26|c.528+176C>G||||||,C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|10/24|c.528+176C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1157;p3_1000G_AF=0.23103;p3_1000G_AFR_AF=0.2753;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=19697;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.3072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21939493;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:99:116,0,422
chr1	21613248	rs1256282	G	C	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.364;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=0.698;SOR=0.831;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1256282;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|9/24|c.667-19C>G||||||,C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|10/26|c.475-19C>G||||||,C|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|9/24|c.475-19C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2409;p3_1000G_AF=0.48103;p3_1000G_AFR_AF=0.4085;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=18699;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.4264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21939741;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1811,2595;ESP6500_AA_AGE=530.6+/-373.0;ESP6500_AA_GTC=367,1077,759;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=73;ESP6500_EA_AC=3753,4847;ESP6500_EA_AGE=530.4+/-381.8;ESP6500_EA_GTC=813,2127,1360;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002885.2:intron,NM_001145658.1:intron,NM_001145657.1:intron;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21613248;ESP6500_GTC=1180,3204,2119;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.475-19C>G,NM_001145658.1:c.667-19C>G,NM_001145657.1:c.475-19C>G;ESP6500_MAF=43.6395,41.103,42.7803;ESP6500_TAC=5564,7442	GT:AD:DP:GQ:PL	0/1:39,23:62:99:581,0,1186
chr1	21614062	rs2275363	C	T	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.092;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=1.43;SOR=0.522;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275363;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|8/25|c.511G>A|p.Ala171Thr|544/3301|511/2184|171/727||,T|missense_variant|MODERATE|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|9/27|c.319G>A|p.Ala107Thr|684/3495|319/2046|107/681||,T|missense_variant|MODERATE|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|8/25|c.319G>A|p.Ala107Thr|577/3334|319/1992|107/663||,T|sequence_feature|LOW|RAP1GAP|RAP1GAP|turn:combinatorial_evidence_used_in_manual_assertion|NM_001145658.1|protein_coding|8/25|c.511G>A||||||,T|sequence_feature|LOW|RAP1GAP|RAP1GAP|turn:combinatorial_evidence_used_in_manual_assertion|NM_001145657.1|protein_coding|9/27|c.319G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1968;p3_1000G_AF=0.392971;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=18116;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.4443;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21940555;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1614,2792;ESP6500_AA_AGE=659.9+/-400.6;ESP6500_AA_GTC=288,1038,877;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=-1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=72;ESP6500_EA_AC=3919,4681;ESP6500_EA_AGE=600.8+/-394.3;ESP6500_EA_GTC=893,2133,1274;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002885.2:missense,NM_001145658.1:missense,NM_001145657.1:missense;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21614062;ESP6500_GS=58,58,58;ESP6500_GTC=1181,3171,2151;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.319G>A,NM_001145658.1:c.511G>A,NM_001145657.1:c.319G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002885.2:p.(A107T),NM_001145658.1:p.(A171T),NM_001145657.1:p.(A107T);ESP6500_MAF=45.5698,36.6319,42.5419;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=5533,7473	GT:AD:DP:GQ:PL	0/1:43,18:61:99:335,0,1149
chr1	21617327	rs2275360	G	A	501.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.886;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.432;SOR=0.905;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275360;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|7/25|c.462C>T|p.Tyr154Tyr|495/3301|462/2184|154/727||,A|synonymous_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|8/27|c.270C>T|p.Tyr90Tyr|635/3495|270/2046|90/681||,A|synonymous_variant|LOW|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|7/25|c.270C>T|p.Tyr90Tyr|528/3334|270/1992|90/663||;p3_1000G_AA=G|||;p3_1000G_AC=1633;p3_1000G_AF=0.326078;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18458;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21943820;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=832,3566;ESP6500_AA_GTC=79,674,1446;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=95;ESP6500_EA_AC=2224,6360;ESP6500_EA_GTC=280,1664,2348;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002885.2:coding-synonymous,NM_001145658.1:coding-synonymous,NM_001145657.1:coding-synonymous;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21617327;ESP6500_GTC=359,2338,3794;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.270C>T,NM_001145658.1:c.462C>T,NM_001145657.1:c.270C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002885.2:p.(Y90),NM_001145658.1:p.(Y154),NM_001145657.1:p.(Y90);ESP6500_MAF=25.9087,18.9177,23.5403;ESP6500_TAC=3056,9926	GT:AD:DP:GQ:PL	0/1:27,21:48:99:530,0,647
chr1	21617859	rs748488	A	G	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.995;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.519;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs748488;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|6/24|c.297+75T>C||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|7/26|c.105+75T>C||||||,G|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|6/24|c.105+75T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=18845;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.2893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21944352;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=373,1011;ESP6500_AA_GTC=49,275,368;ESP6500_CDS_SIZES=NM_002885.2:1992,NM_001145658.1:2184,NM_001145657.1:2046;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=87;ESP6500_EA_AC=947,2235;ESP6500_EA_GTC=146,655,790;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002885.2:intron,NM_001145658.1:intron,NM_001145657.1:intron;ESP6500_GL=RAP1GAP;ESP6500_GRCh38_POSITION=1:21617859;ESP6500_GTC=195,930,1158;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002885.2:c.105+75T>C,NM_001145658.1:c.297+75T>C,NM_001145657.1:c.105+75T>C;ESP6500_MAF=29.7612,26.9509,28.9093;ESP6500_TAC=1320,3246	GT:AD:DP:GQ:PL	0/1:10,15:25:99:349,0,287
chr1	21619922	rs1681255	G	A	701.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=3.716;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1681255;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145658.1|protein_coding|4/24|c.210+93C>T||||||,A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_001145657.1|protein_coding|5/26|c.18+93C>T||||||,A|intron_variant|MODIFIER|RAP1GAP|RAP1GAP|transcript|NM_002885.2|protein_coding|4/24|c.18+93C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4042;p3_1000G_AF=0.807109;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.8646;p3_1000G_AN=5008;p3_1000G_DP=16732;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21946415;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:730,60,0
chr1	21705979	rs11426922;rs397764126	A	AT	247.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11426922;dbSNPBuildID=126,138;ANN=AT|intron_variant|MODIFIER|USP48|USP48|transcript|NM_032236.5|protein_coding|18/26|c.2274-143dupA||||||	GT:AD:DP:GQ:PL	1/1:0,8:8:24:285,24,0
chr1	21814537	rs75506362	C	T	912.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75506362;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|LDLRAD2|LDLRAD2|transcript|NM_001013693.2|protein_coding|2/5|c.225C>T|p.Asp75Asp|412/4012|225/819|75/272||;p3_1000G_AA=C|||;p3_1000G_AC=745;p3_1000G_AF=0.148762;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=10817;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22141030;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=463,3905;ESP6500_AA_GTC=29,405,1750;ESP6500_CDS_SIZES=NM_001013693.2:819;ESP6500_CG=2.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=22;ESP6500_EA_AC=576,7954;ESP6500_EA_GTC=9,558,3698;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013693.2:coding-synonymous;ESP6500_GL=LDLRAD2;ESP6500_GRCh38_POSITION=1:21814537;ESP6500_GTC=38,963,5448;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001013693.2:c.225C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001013693.2:p.(D75);ESP6500_MAF=6.7526,10.5998,8.0555;ESP6500_TAC=1039,11859	GT:AD:DP:GQ:PL	1/1:0,30:30:90:941,90,0
chr1	21823442	rs897467;295695	T	C	639.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.585;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.166;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.47;SOR=1.008;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs897467;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|97/97|c.13053A>G|p.Ser4351Ser|13133/14343|13053/13179|4351/4392||,C|synonymous_variant|LOW|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|97/97|c.13050A>G|p.Ser4350Ser|13130/14340|13050/13176|4350/4391||,C|3_prime_UTR_variant|MODIFIER|LDLRAD2|LDLRAD2|transcript|NM_001013693.2|protein_coding|5/5|c.*1227T>C|||||1227|;p3_1000G_AA=C|||;p3_1000G_AC=3908;p3_1000G_AF=0.780351;p3_1000G_AFR_AF=0.677;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=11279;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22149935;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3171,1219;ESP6500_AA_GTC=1144,883,168;ESP6500_CDS_SIZES=NM_005529.5:13176,NM_001013693.2:819;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=14;ESP6500_EA_AC=7115,1477;ESP6500_EA_GTC=2943,1229,124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:coding-synonymous,NM_001013693.2:utr-3;ESP6500_GL=HSPG2,LDLRAD2;ESP6500_GRCh38_POSITION=1:21823442;ESP6500_GTC=4087,2112,292;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.13050A>G,NM_001013693.2:c.*1227T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005529.5:p.(S4350),.;ESP6500_MAF=17.1904,27.7677,20.7672;ESP6500_TAC=10286,2696;CLINVAR_ALLELEID=280437;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21823442T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:788;CLINVAR_GENEINFO=HSPG2:3339|LDLRAD2:401944;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=897467	GT:AD:DP:GQ:PL	0/1:26,25:51:99:668,0,757
chr1	21823764	rs3736357	C	T	520.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.469;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=4.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.824;SOR=0.121;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736357;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|LDLRAD2|LDLRAD2|transcript|NM_001013693.2|protein_coding|5/5|c.*1549C>T|||||1549|,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|95/96|c.12903-45G>A||||||,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|95/96|c.12900-45G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1879;p3_1000G_AF=0.3752;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=15603;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.4801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22150257;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=621,3783;ESP6500_AA_GTC=51,519,1632;ESP6500_CDS_SIZES=NM_005529.5:13176,NM_001013693.2:819;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=23;ESP6500_EA_AC=4249,4351;ESP6500_EA_GTC=1055,2139,1106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron,NM_001013693.2:utr-3;ESP6500_GL=HSPG2,LDLRAD2;ESP6500_GRCh38_POSITION=1:21823764;ESP6500_GTC=1106,2658,2738;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.12900-45G>A,NM_001013693.2:c.*1549C>T;ESP6500_MAF=49.407,14.1008,37.45;ESP6500_TAC=4870,8134	GT:AD:DP:GQ:PL	0/1:13,18:31:99:549,0,420
chr1	21829230	rs7518070;439796	T	C	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.755;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.23;ReadPosRankSum=-0.605;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7518070;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|LDLRAD2|LDLRAD2|transcript|NM_001013693.2|protein_coding||c.*7015T>C|||||4009|,C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|87/96|c.11996-151A>G||||||,C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|87/96|c.11993-151A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3823;p3_1000G_AF=0.763379;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=18391;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.8062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22155723;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;CLINVAR_ALLELEID=433613;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.21829230T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:19448;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7518070	GT:AD:DP:GQ:PL	0/1:3,9:12:81:307,0,81
chr1	21831196	rs3736355	G	A	2305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.164;ClippingRankSum=0;DP=163;ExcessHet=3.0103;FS=3.763;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.703;SOR=0.457;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736355;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|84/96|c.11565+19C>T||||||,A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|84/96|c.11562+19C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=3802;p3_1000G_AF=0.759185;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=16257;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.8042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22157689;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP;ESP6500_AA_AC=3114,1292;ESP6500_AA_AGE=431.6+/-343.0;ESP6500_AA_GTC=1092,930,181;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=61;ESP6500_EA_AC=6897,1701;ESP6500_EA_AGE=301.7+/-305.6;ESP6500_EA_GTC=2762,1373,164;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21831196;ESP6500_GTC=3854,2303,345;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.11562+19C>T;ESP6500_MAF=19.7837,29.3236,23.016;ESP6500_TAC=10011,2993	GT:AD:DP:GQ:PL	0/1:69,93:162:99:2334,0,1835
chr1	21833655	rs7547731	C	T	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.041;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.519;SOR=1.532;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7547731;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|78/96|c.10834-41G>A||||||,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|78/96|c.10831-41G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1878;p3_1000G_AF=0.375;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=21219;p3_1000G_EAS_AF=0.6478;p3_1000G_EUR_AF=0.4821;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22160148;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=633,3771;ESP6500_AA_GTC=53,527,1622;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=23;ESP6500_EA_AC=4231,4365;ESP6500_EA_GTC=1055,2121,1122;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21833655;ESP6500_GTC=1108,2648,2744;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.10831-41G>A;ESP6500_MAF=49.2206,14.3733,37.4154;ESP6500_TAC=4864,8136	GT:AD:DP:GQ:PL	0/1:10,9:19:99:265,0,270
chr1	21834874	rs143210045;295735	C	T	809.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.413;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-1.156;SOR=0.713;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143210045;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|77/97|c.10528G>A|p.Glu3510Lys|10608/14343|10528/13179|3510/4392||,T|missense_variant|MODERATE|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|77/97|c.10525G>A|p.Glu3509Lys|10605/14340|10525/13176|3509/4391||;ESP6500_AA=C;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=67;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005529.5:missense;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21834874;ESP6500_GS=56;ESP6500_GTC=0,4,6499;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.10525G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005529.5:p.(E3509K);ESP6500_MAF=0.0349,0.0227,0.0308;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=4,13002;CLINVAR_AF_ESP=0.0003;CLINVAR_AF_EXAC=0.00017;CLINVAR_ALLELEID=279234;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21834874C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:715216;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=143210045	GT:AD:DP:GQ:PL	0/1:51,33:84:99:838,0,1434
chr1	21841292	rs2270695;295760	G	A	904.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.701;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.85;ReadPosRankSum=-1.484;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270695;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|70/96|c.9332-7C>T||||||,A|splice_region_variant&intron_variant|LOW|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|70/96|c.9329-7C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=287;p3_1000G_AF=0.0573083;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=19145;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22167785;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=56,4350;ESP6500_AA_AGE=49.6+/-84.7;ESP6500_AA_GTC=0,56,2147;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=50,8550;ESP6500_EA_AGE=26.3+/-74.7;ESP6500_EA_GTC=0,50,4250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21841292;ESP6500_GTC=0,106,6397;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.9329-7C>T;ESP6500_MAF=0.5814,1.271,0.815;ESP6500_TAC=106,12900;CLINVAR_AF_ESP=0.0082;CLINVAR_AF_EXAC=0.03330;CLINVAR_AF_TGP=0.0573;CLINVAR_ALLELEID=279274;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21841292G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:77922;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2270695	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,25:48:99:0|1:21841292_G_A:933,0,1481
chr1	21841293	rs2270696;295761	G	A	904.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.575;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=-1.206;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270696;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|70/96|c.9332-8C>T||||||,A|splice_region_variant&intron_variant|LOW|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|70/96|c.9329-8C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=287;p3_1000G_AF=0.0573083;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=19161;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22167786;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=55,4351;ESP6500_AA_AGE=48.2+/-83.0;ESP6500_AA_GTC=0,55,2148;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=51,8549;ESP6500_EA_AGE=26.3+/-74.7;ESP6500_EA_GTC=0,51,4249;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21841293;ESP6500_GTC=0,106,6397;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.9329-8C>T;ESP6500_MAF=0.593,1.2483,0.815;ESP6500_TAC=106,12900;CLINVAR_AF_ESP=0.0082;CLINVAR_AF_EXAC=0.03329;CLINVAR_AF_TGP=0.0573;CLINVAR_ALLELEID=279079;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21841293G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:77939;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2270696	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,23:46:99:0|1:21841292_G_A:933,0,1481
chr1	21841723	rs7556412	C	T	638.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.081;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.196;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7556412;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|69/96|c.9197-50G>A||||||,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|69/96|c.9194-50G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3124;p3_1000G_AF=0.623802;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=19517;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.6769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22168216;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2204,2202;ESP6500_AA_AGE=581.7+/-385.4;ESP6500_AA_GTC=572,1060,571;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=50;ESP6500_EA_AC=5692,2908;ESP6500_EA_AGE=666.2+/-402.3;ESP6500_EA_GTC=1879,1934,487;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21841723;ESP6500_GTC=2451,2994,1058;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.9194-50G>A;ESP6500_MAF=33.814,49.9773,39.2896;ESP6500_TAC=7896,5110	GT:AD:DP:GQ:PL	0/1:24,26:50:99:667,0,696
chr1	21848107	rs3767138;295787	A	G	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.386;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-0.487;SOR=0.207;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767138;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|59/96|c.7741-14T>C||||||,G|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|59/96|c.7738-14T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3816;p3_1000G_AF=0.761981;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=19776;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.8231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22174600;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3134,1252;ESP6500_AA_GTC=1119,896,178;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=20;ESP6500_EA_AC=7039,1553;ESP6500_EA_GTC=2887,1265,144;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21848107;ESP6500_GTC=4006,2161,322;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.7738-14T>C;ESP6500_MAF=18.075,28.5454,21.6135;ESP6500_TAC=10173,2805;CLINVAR_ALLELEID=280605;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21848107A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:851;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3767138	GT:AD:DP:GQ:PL	0/1:5,9:14:99:247,0,149
chr1	21853180	rs12049614	T	C	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.43;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12049614;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|50/96|c.6443-110A>G||||||,C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|50/96|c.6440-110A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1892;p3_1000G_AF=0.377796;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=16196;p3_1000G_EAS_AF=0.6389;p3_1000G_EUR_AF=0.501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22179673;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:178,0,220
chr1	21855680	rs2290498;197549	C	T	502.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.108;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.036;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.185;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290498;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|45/96|c.5705-5G>A||||||,T|splice_region_variant&intron_variant|LOW|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|45/96|c.5702-5G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=263;p3_1000G_AF=0.052516;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=15024;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22182173;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=18,4380;ESP6500_AA_GTC=0,18,2181;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=14;ESP6500_EA_AC=20,8556;ESP6500_EA_GTC=0,20,4268;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21855680;ESP6500_GTC=0,38,6449;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.5702-5G>A;ESP6500_MAF=0.2332,0.4093,0.2929;ESP6500_TAC=38,12936;CLINVAR_AF_ESP=0.0029;CLINVAR_AF_EXAC=0.04252;CLINVAR_AF_TGP=0.0525;CLINVAR_ALLELEID=194710;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865|MedGen:CN169374;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.21855680C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:77963;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2290498	GT:AD:DP:GQ:PL	0/1:32,24:56:99:531,0,897
chr1	21855958	rs114216130	G	A	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.8;ReadPosRankSum=0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs114216130;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|44/96|c.5579-46C>T||||||,A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|44/96|c.5576-46C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19440;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22182451;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=38;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21855958;ESP6500_GTC=0,1,6502;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.5576-46C>T;ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:4,2:6:57:57,0,143
chr1	21856978	rs12024579	A	C	731.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.451;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12024579;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|44/96|c.5578+37T>G||||||,C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|44/96|c.5575+37T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3751;p3_1000G_AF=0.749002;p3_1000G_AFR_AF=0.6309;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=21423;p3_1000G_EAS_AF=0.8095;p3_1000G_EUR_AF=0.8151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22183471;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2955,1451;ESP6500_AA_AGE=468.7+/-355.2;ESP6500_AA_GTC=985,985,233;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=91;ESP6500_EA_AC=6993,1607;ESP6500_EA_AGE=296.6+/-303.0;ESP6500_EA_GTC=2841,1311,148;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21856978;ESP6500_GTC=3826,2296,381;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.5575+37T>G;ESP6500_MAF=18.686,32.9324,23.5122;ESP6500_TAC=9948,3058	GT:AD:DP:GQ:PL	0/1:25,24:49:99:760,0,710
chr1	21859741	rs10917056	A	G	1470.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10917056;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|41/96|c.5186-65T>C||||||,G|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|41/96|c.5183-65T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4654;p3_1000G_AF=0.929313;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=19723;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22186234;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1499,132,0
chr1	21864961	rs897471;291236	G	A	714.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.59;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs897471;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|36/97|c.4511C>T|p.Ala1504Val|4591/14343|4511/13179|1504/4392||,A|missense_variant|MODERATE|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|36/97|c.4508C>T|p.Ala1503Val|4588/14340|4508/13176|1503/4391||;p3_1000G_AA=G|||;p3_1000G_AC=3463;p3_1000G_AF=0.691494;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=13339;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.7256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22191454;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2716,1666;ESP6500_AA_GTC=835,1046,310;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=16;ESP6500_EA_AC=6349,2235;ESP6500_EA_GTC=2359,1631,302;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005529.5:missense;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21864961;ESP6500_GS=64;ESP6500_GTC=3194,2677,612;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.4508C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005529.5:p.(A1503V);ESP6500_MAF=26.0368,38.0192,30.0864;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=9065,3901;CLINVAR_ALLELEID=275473;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865|MedGen:CN169374;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.21864961G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:863|UniProtKB_(protein):P98160#VAR_047983;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=897471	GT:AD:DP:GQ:PL	1/1:0,25:25:75:743,75,0
chr1	21872588	rs2501266	A	T	929.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501266;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|32/96|c.4032+32T>A||||||,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|32/96|c.4029+32T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4907;p3_1000G_AF=0.979832;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16344;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22199081;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4135,217;ESP6500_AA_GTC=1963,209,4;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=19;ESP6500_EA_AC=8554,6;ESP6500_EA_GTC=4274,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21872588;ESP6500_GTC=6237,215,4;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.4029+32T>A;ESP6500_MAF=0.0701,4.9862,1.7271;ESP6500_TAC=12689,223	GT:AD:DP:GQ:PL	1/1:0,28:28:84:958,84,0
chr1	21873328	rs2454290	G	A	1883.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=0.796;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2454290;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|30/96|c.3796+47C>T||||||,A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|30/96|c.3793+47C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3716;p3_1000G_AF=0.742013;p3_1000G_AFR_AF=0.4198;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=16142;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.8618;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22199821;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2176,2230;ESP6500_AA_AGE=580.7+/-385.2;ESP6500_AA_GTC=530,1116,557;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=85;ESP6500_EA_AC=7361,1239;ESP6500_EA_AGE=757.9+/-407.5;ESP6500_EA_GTC=3153,1055,92;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21873328;ESP6500_GTC=3683,2171,649;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.3793+47C>T;ESP6500_MAF=14.407,49.3872,26.6723;ESP6500_TAC=9537,3469	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1912,177,0
chr1	21874342	rs2445135	C	G	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2445135;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|28/96|c.3659+64G>C||||||,G|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|28/96|c.3656+64G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4899;p3_1000G_AF=0.978235;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18936;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22200835;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:465,33,0
chr1	21874838	rs2290494	C	T	743.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290494;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|26/96|c.3417+53G>A||||||,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|26/96|c.3414+53G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1503;p3_1000G_AF=0.30012;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=15710;p3_1000G_EAS_AF=0.5972;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22201331;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:772,66,0
chr1	21875616	rs2501265;295864	C	T	1585.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.34;SOR=2.687;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501265;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|25/96|c.3305+13G>A||||||,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|25/96|c.3302+13G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4719;p3_1000G_AF=0.942292;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=17729;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22202109;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3646,760;ESP6500_AA_AGE=739.4+/-411.1;ESP6500_AA_GTC=1504,638,61;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=42;ESP6500_EA_AC=8591,9;ESP6500_EA_AGE=806.7+/-407.2;ESP6500_EA_GTC=4291,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21875616;ESP6500_GTC=5795,647,61;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.3302+13G>A;ESP6500_MAF=0.1047,17.2492,5.9127;ESP6500_TAC=12237,769;CLINVAR_ALLELEID=279443;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21875616C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:897;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2501265	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1614,135,0
chr1	21878093	.	G	A	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.917;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=1.92;SOR=1.445;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|21/96|c.2688+93C>T||||||,A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|21/96|c.2685+93C>T||||||	GT:AD:DP:GQ:PL	0/1:5,9:14:99:299,0,136
chr1	21878137	rs7513608	G	A	733.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7513608;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|21/96|c.2688+49C>T||||||,A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|21/96|c.2685+49C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1551;p3_1000G_AF=0.309704;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=18135;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.2107;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22204630;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=692,3712;ESP6500_AA_GTC=50,592,1560;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=20;ESP6500_EA_AC=1811,6787;ESP6500_EA_GTC=193,1425,2681;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21878137;ESP6500_GTC=243,2017,4241;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.2685+49C>T;ESP6500_MAF=21.063,15.713,19.2509;ESP6500_TAC=2503,10499	GT:AD:DP:GQ:PL	1/1:0,24:24:72:762,72,0
chr1	21878915	rs2454294	T	C	559.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2454294;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|18/96|c.2474+79A>G||||||,C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|18/96|c.2471+79A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4876;p3_1000G_AF=0.973642;p3_1000G_AFR_AF=0.9039;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=17049;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22205408;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:588,45,0
chr1	21878973	rs2454293	T	C	532.1	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=22.17;ReadPosRankSum=1.31;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2454293;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|18/96|c.2474+21A>G||||||,C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|18/96|c.2471+21A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=4805;p3_1000G_AF=0.959465;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=16775;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22205466;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=3914,490;ESP6500_AA_GTC=1741,432,29;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=17;ESP6500_EA_AC=8588,6;ESP6500_EA_GTC=4291,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21878973;ESP6500_GTC=6032,438,29;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.2471+21A>G;ESP6500_MAF=0.0698,11.1262,3.816;ESP6500_TAC=12502,496	GT:AD:DP:GQ:PL	1/1:2,22:24:11:560,11,0
chr1	21880156	rs989994;295881	T	C	1518.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=1.203;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs989994;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|17/97|c.2297A>G|p.Asn766Ser|2377/14343|2297/13179|766/4392||,C|missense_variant|MODERATE|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|17/97|c.2294A>G|p.Asn765Ser|2374/14340|2294/13176|765/4391||;p3_1000G_AA=T|||;p3_1000G_AC=4657;p3_1000G_AF=0.929912;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=21137;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22206649;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3571,835;ESP6500_AA_AGE=746.2+/-411.7;ESP6500_AA_GTC=1440,691,72;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=57;ESP6500_EA_AC=8592,8;ESP6500_EA_AGE=818.7+/-406.8;ESP6500_EA_GTC=4292,8,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005529.5:missense;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21880156;ESP6500_GS=46;ESP6500_GTC=5732,699,72;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.2294A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005529.5:p.(N765S);ESP6500_MAF=0.093,18.9514,6.4816;ESP6500_PH=benign:0.003;ESP6500_TAC=12163,843;CLINVAR_ALLELEID=280764;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21880156T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:911|UniProtKB_(protein):P98160#VAR_047981;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=989994	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1547,138,0
chr1	21880449	rs1874793;295882	G	A	2673.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=1.734;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1874793;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|16/97|c.2112C>T|p.Ala704Ala|2192/14343|2112/13179|704/4392||,A|synonymous_variant|LOW|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|16/97|c.2109C>T|p.Ala703Ala|2189/14340|2109/13176|703/4391||;p3_1000G_AA=G|||;p3_1000G_AC=4657;p3_1000G_AF=0.929912;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=21137;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22206942;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3571,835;ESP6500_AA_AGE=745.3+/-411.6;ESP6500_AA_GTC=1440,691,72;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=69;ESP6500_EA_AC=8592,8;ESP6500_EA_AGE=818.0+/-406.9;ESP6500_EA_GTC=4292,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:coding-synonymous;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21880449;ESP6500_GTC=5732,699,72;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.2109C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005529.5:p.(A703);ESP6500_MAF=0.093,18.9514,6.4816;ESP6500_TAC=12163,843;CLINVAR_ALLELEID=280765;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21880449G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:925;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1874793	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2702,231,0
chr1	21880742	rs1874792;295887	T	C	1638.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1874792;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|15/97|c.1915A>G|p.Met639Val|1995/14343|1915/13179|639/4392||,C|missense_variant|MODERATE|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|15/97|c.1912A>G|p.Met638Val|1992/14340|1912/13176|638/4391||;p3_1000G_AA=C|||;p3_1000G_AC=4876;p3_1000G_AF=0.973642;p3_1000G_AFR_AF=0.9039;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=17363;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22207235;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4079,311;ESP6500_AA_GTC=1892,295,8;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=3.6;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=26;ESP6500_EA_AC=8587,5;ESP6500_EA_GTC=4291,5,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005529.5:missense;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21880742;ESP6500_GS=21;ESP6500_GTC=6183,300,8;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.1912A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005529.5:p.(M638V);ESP6500_MAF=0.0582,7.0843,2.4341;ESP6500_PH=benign:0.0;ESP6500_TAC=12666,316;CLINVAR_ALLELEID=279454;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21880742T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:937|UniProtKB_(protein):P98160#VAR_047980;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1874792	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1667,144,0
chr1	21881311	rs139046040;rs60267433	ACCCAGGGTGGCAG	A	1668.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.82;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60267433,rs139046040;dbSNPBuildID=134,129;ANN=A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|14/96|c.1821+15_1821+27delCTGCCACCCTGGG||||||,A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|14/96|c.1818+15_1818+27delCTGCCACCCTGGG||||||;p3_1000G_AC=4806;p3_1000G_AF=0.959665;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=17168;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22207804;p3_1000G_GRCH37_REF=ACCCAGGGTGGCAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL;ESP6500_AA_AC=3644,526;ESP6500_AA_GTC=1622,400,63;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=49;ESP6500_EA_AC=7878,16;ESP6500_EA_GTC=3931,16,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21881311;ESP6500_GTC=5553,416,63;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.1818+15_1818+27del13;ESP6500_MAF=0.2027,12.6139,4.4927;ESP6500_TAC=11522,542	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1706,115,0
chr1	21881537	rs921847;439797	C	T	787.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs921847;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|13/96|c.1658-35G>A||||||,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|13/96|c.1655-35G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4637;p3_1000G_AF=0.925919;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=17244;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22208030;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3595,811;ESP6500_AA_AGE=747.8+/-411.9;ESP6500_AA_GTC=1459,677,67;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=51;ESP6500_EA_AC=8460,140;ESP6500_EA_AGE=811.3+/-407.1;ESP6500_EA_GTC=4160,140,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21881537;ESP6500_GTC=5619,817,67;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.1655-35G>A;ESP6500_MAF=1.6279,18.4067,7.312;ESP6500_TAC=12055,951;CLINVAR_ALLELEID=433614;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.21881537C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:19516;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=921847	GT:AD:DP:GQ:PL	1/1:0,24:24:72:816,72,0
chr1	21884724	rs2290493	G	A	7004.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=155;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=1.364;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290493;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|12/96|c.1507+43C>T||||||,A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|12/96|c.1507+43C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1556;p3_1000G_AF=0.310703;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=13464;p3_1000G_EAS_AF=0.6062;p3_1000G_EUR_AF=0.2097;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22211217;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=675,3721;ESP6500_AA_GTC=51,573,1574;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=16;ESP6500_EA_AC=1778,6808;ESP6500_EA_GTC=190,1398,2705;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21884724;ESP6500_GTC=241,1971,4279;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.1507+43C>T;ESP6500_MAF=20.7081,15.3549,18.8954;ESP6500_TAC=2453,10529	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,155:155:99:1|1:21884724_G_A:7033,479,0
chr1	21884729	rs4654994	T	C	6980.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=158;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=1.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4654994;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|12/96|c.1507+38A>G||||||,C|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|12/96|c.1507+38A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4489;p3_1000G_AF=0.896366;p3_1000G_AFR_AF=0.826;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=13663;p3_1000G_EAS_AF=0.9583;p3_1000G_EUR_AF=0.9254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22211222;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3744,654;ESP6500_AA_GTC=1591,562,46;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=17;ESP6500_EA_AC=8030,560;ESP6500_EA_GTC=3754,522,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:intron;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21884729;ESP6500_GTC=5345,1084,65;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.1507+38A>G;ESP6500_MAF=6.5192,14.8704,9.3471;ESP6500_TAC=11774,1214	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,158:158:99:1|1:21884724_G_A:7009,476,0
chr1	21885510	.	C	T	533.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.505;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.77;ReadPosRankSum=1.42;SOR=0.765;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|9/96|c.1079-59G>A||||||,T|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|9/96|c.1079-59G>A||||||	GT:AD:DP:GQ:PL	0/1:8,19:27:99:562,0,223
chr1	21887634	rs2229478;295909	A	G	1500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229478;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|8/97|c.744T>C|p.Leu248Leu|824/14343|744/13179|248/4392||,G|synonymous_variant|LOW|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|8/97|c.744T>C|p.Leu248Leu|824/14340|744/13176|248/4391||;p3_1000G_AA=G|||;p3_1000G_AC=2686;p3_1000G_AF=0.536342;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=17253;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22214127;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2774,1632;ESP6500_AA_AGE=500.3+/-364.7;ESP6500_AA_GTC=854,1066,283;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=110;ESP6500_EA_AC=2784,5816;ESP6500_EA_AGE=678.5+/-403.5;ESP6500_EA_GTC=446,1892,1962;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:coding-synonymous;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21887634;ESP6500_GTC=1300,2958,2245;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.744T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005529.5:p.(L248);ESP6500_MAF=32.3721,37.0404,42.7341;ESP6500_TAC=5558,7448;CLINVAR_AF_ESP=0.4273;CLINVAR_AF_EXAC=0.41753;CLINVAR_ALLELEID=279469;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21887634A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:954;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229478	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1529,135,0
chr1	21888152	rs3767140	C	A	357.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3767140;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|6/96|c.575-86G>T||||||,A|intron_variant|MODIFIER|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|6/96|c.575-86G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1713;p3_1000G_AF=0.342053;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=16216;p3_1000G_EAS_AF=0.6062;p3_1000G_EUR_AF=0.2117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22214645;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:386,33,0
chr1	21890615	rs2501260;295913	G	A	1236.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.92;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501260;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|HSPG2|HSPG2|transcript|NM_001291860.1|protein_coding|4/97|c.324C>T|p.Phe108Phe|404/14343|324/13179|108/4392||,A|synonymous_variant|LOW|HSPG2|HSPG2|transcript|NM_005529.6|protein_coding|4/97|c.324C>T|p.Phe108Phe|404/14340|324/13176|108/4391||;p3_1000G_AA=G|||;p3_1000G_AC=4748;p3_1000G_AF=0.948083;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=17196;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22217108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3813,593;ESP6500_AA_AGE=770.9+/-413.8;ESP6500_AA_GTC=1645,523,35;ESP6500_CDS_SIZES=NM_005529.5:13176;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=104;ESP6500_EA_AC=8592,8;ESP6500_EA_AGE=818.9+/-406.8;ESP6500_EA_GTC=4292,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005529.5:coding-synonymous;ESP6500_GL=HSPG2;ESP6500_GRCh38_POSITION=1:21890615;ESP6500_GTC=5937,531,35;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005529.5:c.324C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005529.5:p.(F108);ESP6500_MAF=0.093,13.4589,4.6209;ESP6500_TAC=12405,601;CLINVAR_ALLELEID=280781;CLINVAR_CLNDISDB=MedGen:C0036391,OMIM:255800,Orphanet:ORPHA800|MedGen:C1857100,Orphanet:ORPHA1865;CLINVAR_CLNDN=Schwartz_Jampel_syndrome_type_1|Dyssegmental_Dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.21890615G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1006;CLINVAR_GENEINFO=HSPG2:3339;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2501260	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1265,120,0
chr1	21976972	rs116802276;rs371629455	C	T	2833.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=157;ExcessHet=3.0103;FS=6.408;MLEAC=1;MLEAF=0.5;MQ=57.03;MQRankSum=8.34;QD=18.05;ReadPosRankSum=-1.96;SOR=1.167;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116802276;dbSNPBuildID=132;ANN=T|5_prime_UTR_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/8|c.-68C>T|||||68|;p3_1000G_AC=423;p3_1000G_AF=0.0844649;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=19609;p3_1000G_EAS_AF=0.0903;p3_1000G_EUR_AF=0.0954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22303465;p3_1000G_GRCH37_REF=CT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:51,106:157:99:2862,0,990
chr1	21977008	rs199674044	T	C	1571.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.846;ClippingRankSum=0;DP=180;ExcessHet=3.0103;FS=2.095;MLEAC=1;MLEAF=0.5;MQ=57.56;MQRankSum=-8.96;QD=8.83;ReadPosRankSum=2.93;SOR=0.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199674044;dbSNPBuildID=137;ANN=C|5_prime_UTR_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/8|c.-32T>C|||||32|	GT:AD:DP:GQ:PGT:PID:PL	0/1:128,50:178:99:0|1:21977008_T_C:1600,0,5050
chr1	21977031	rs202069060	G	A	1485.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.19;ClippingRankSum=0;DP=184;ExcessHet=3.0103;FS=2.125;MLEAC=1;MLEAF=0.5;MQ=58;MQRankSum=-8.857;QD=8.16;ReadPosRankSum=-0.873;SOR=0.901;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202069060;dbSNPBuildID=137;ANN=A|5_prime_UTR_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/8|c.-9G>A|||||9|	GT:AD:DP:GQ:PGT:PID:PL	0/1:135,47:182:99:0|1:21977008_T_C:1514,0,5287
chr1	21977209	rs4415533	C	A	1164.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4415533;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.43+127C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2197;p3_1000G_AF=0.438698;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=18024;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22303702;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1193,107,0
chr1	21977935	rs12074015	C	G	2689.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.495;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.49;MQRankSum=0.933;QD=35.4;ReadPosRankSum=-0.462;SOR=0.606;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12074015;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.44-434C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=4382;p3_1000G_AF=0.875;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=13284;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.9712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22304428;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9376;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,63:64:76:1|1:21977935_C_G:2718,76,0
chr1	21977936	rs12074016	C	T	2689.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.83;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.49;MQRankSum=0.933;QD=29.26;ReadPosRankSum=-0.462;SOR=0.606;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12074016;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.44-433C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=4382;p3_1000G_AF=0.875;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=13344;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.9712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22304429;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9376;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,63:64:76:1|1:21977935_C_G:2718,76,0
chr1	21977938	rs181658556	G	C	2689.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.236;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.7;MQRankSum=0.985;QD=30.83;ReadPosRankSum=-0.361;SOR=0.585;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs181658556;dbSNPBuildID=135;ANN=C|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.44-431G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=442;p3_1000G_AF=0.0882588;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=13309;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.0785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22304431;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,62:63:76:1|1:21977935_C_G:2718,76,0
chr1	21978092	rs12059804	T	C	954.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.81;QD=31.83;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12059804;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.44-277T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2435;p3_1000G_AF=0.486222;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=15115;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.4394;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22304585;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:983,90,0
chr1	21978175	rs78360599	G	C	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.237;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=12.825;MLEAC=1;MLEAF=0.5;MQ=46.2;MQRankSum=-1.44;QD=4.15;ReadPosRankSum=-1.229;SOR=2.788;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78360599;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.44-194G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1588;p3_1000G_AF=0.317093;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=14323;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22304668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,3:25:99:0|1:21978175_G_C:132,0,909
chr1	21978178	rs75406730	T	C	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.2;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=20.083;MLEAC=1;MLEAF=0.5;MQ=45.84;MQRankSum=-1.711;QD=3.84;ReadPosRankSum=-2.095;SOR=3.59;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75406730;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.44-191T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=1588;p3_1000G_AF=0.317093;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=14405;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22304671;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,5:27:99:0|1:21978175_G_C:132,0,909
chr1	21978219	rs10917088	A	G	1149.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.85;QD=27.55;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10917088;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.44-150A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2684;p3_1000G_AF=0.535942;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=16210;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22304712;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1178,90,0
chr1	21978338	rs143312313	C	A	1583.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.684;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=0.768;MLEAC=1;MLEAF=0.5;MQ=55.28;MQRankSum=-1.197;QD=14.94;ReadPosRankSum=0.092;SOR=0.812;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143312313;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|1/7|c.44-31C>A||||||	GT:AD:DP:GQ:PL	0/1:44,62:106:99:1612,0,1136
chr1	21978554	rs373007859	T	C	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.7;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=5.655;MLEAC=1;MLEAF=0.5;MQ=52.5;MQRankSum=-2.549;QD=8.65;ReadPosRankSum=-0.313;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373007859;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|2/7|c.129+100T>C||||||	GT:AD:DP:GQ:PL	0/1:21,11:32:99:305,0,570
chr1	21980696	rs60580853	T	A	545.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.58;QD=27.56;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60580853;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|2/7|c.130-128T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=804;p3_1000G_AF=0.160543;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=14650;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.0905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22307189;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:574,45,0
chr1	21980713	rs7528110	C	A	910.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.9;QD=32.87;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7528110;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|2/7|c.130-111C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2501;p3_1000G_AF=0.499401;p3_1000G_AFR_AF=0.3979;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=14083;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22307206;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:63:1|1:21980713_C_A:939,63,0
chr1	21980714	rs7549878	G	A	910.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.9;QD=33.62;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7549878;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|2/7|c.130-110G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3107;p3_1000G_AF=0.620407;p3_1000G_AFR_AF=0.6831;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=14095;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.7644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22307207;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,21:21:63:1|1:21980713_C_A:939,63,0
chr1	21980847	rs7528228	C	T	1559.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.2;QD=32.5;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7528228;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|3/8|c.153C>T|p.Ser51Ser|299/1034|153/813|51/270||;p3_1000G_AA=C|||;p3_1000G_AC=4253;p3_1000G_AF=0.849241;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=9434;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.9722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22307340;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1588,144,0
chr1	21980865	rs7528300	C	G	1551.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.82;QD=33.02;SOR=1.132;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7528300;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|3/8|c.171C>G|p.Thr57Thr|317/1034|171/813|57/270||;p3_1000G_AA=C|||;p3_1000G_AC=4245;p3_1000G_AF=0.847644;p3_1000G_AFR_AF=0.7042;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=8753;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.9722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22307358;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1580,141,0
chr1	21981045	rs7528405	C	T	1394.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=1.714;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7528405;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|4/8|c.235C>T|p.Arg79Trp|381/1034|235/813|79/270||;p3_1000G_AA=C|||;p3_1000G_AC=4474;p3_1000G_AF=0.893371;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=16094;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22307538;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3776,630;ESP6500_AA_AGE=767.3+/-413.5;ESP6500_AA_GTC=1620,536,47;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=74;ESP6500_EA_AC=8532,68;ESP6500_EA_AGE=816.3+/-406.9;ESP6500_EA_GTC=4233,66,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007352.2:missense;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21981045;ESP6500_GS=101;ESP6500_GTC=5853,602,48;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.235C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007352.2:p.(R79W);ESP6500_MAF=0.7907,14.2987,5.3668;ESP6500_PH=probably-damaging:0.962;ESP6500_TAC=12308,698	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1423,135,0
chr1	21981215	rs200827163	C	T	286.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.58;QD=33.52;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200827163;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|4/7|c.362+43C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=222;p3_1000G_AF=0.0443291;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=11999;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22307708;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:21981215_C_T:315,21,0
chr1	21981216	rs201648589	A	G	286.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.58;QD=27.36;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201648589;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|4/7|c.362+44A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=222;p3_1000G_AF=0.0443291;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=11911;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22307709;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:21981215_C_T:315,21,0
chr1	21983646	rs10733031	T	G	3196.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.13;QD=30.63;SOR=3.073;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10733031;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|4/7|c.363-48T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,70:70:99:1|1:21983646_T_G:3225,220,0
chr1	21983652	rs10733032	C	T	3361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.12;QD=31.62;SOR=3.116;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10733032;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|4/7|c.363-42C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4246;p3_1000G_AF=0.847843;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=18367;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310145;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9448;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,77:77:99:1|1:21983646_T_G:3390,232,0
chr1	21983697	rs41266015	T	C	4609.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=145;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.68;QD=31.79;SOR=1.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41266015;dbSNPBuildID=127;ANN=C|synonymous_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|5/8|c.366T>C|p.Asn122Asn|512/1034|366/813|122/270||;p3_1000G_AA=T|||;p3_1000G_AC=495;p3_1000G_AF=0.0988419;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=18382;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310190;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0542;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=561,3845;ESP6500_AA_AGE=246.5+/-255.1;ESP6500_AA_GTC=42,477,1684;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=62;ESP6500_EA_AC=585,8011;ESP6500_EA_AGE=154.9+/-209.1;ESP6500_EA_GTC=18,549,3731;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:coding-synonymous;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21983697;ESP6500_GTC=60,1026,5415;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.366T>C;ESP6500_HGVS_PROTEIN_VAR=NM_007352.2:p.(N122);ESP6500_MAF=6.8055,12.7326,8.814;ESP6500_TAC=1146,11856	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4638,435,0
chr1	21983769	rs10733033	G	C	5361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=175;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.08;QD=30.64;SOR=0.728;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10733033;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|5/8|c.438G>C|p.Pro146Pro|584/1034|438/813|146/270||;p3_1000G_AA=C|||;p3_1000G_AC=4404;p3_1000G_AF=0.879393;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=19098;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3561,845;ESP6500_AA_AGE=306.9+/-289.7;ESP6500_AA_GTC=1476,609,118;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=73;ESP6500_EA_AC=8512,82;ESP6500_EA_AGE=42.2+/-99.7;ESP6500_EA_GTC=4217,78,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:coding-synonymous;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21983769;ESP6500_GTC=5693,687,120;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.438G>C;ESP6500_HGVS_PROTEIN_VAR=NM_007352.2:p.(P146);ESP6500_MAF=0.9542,19.1784,7.1308;ESP6500_TAC=12073,927	GT:AD:DP:GQ:PL	1/1:0,175:175:99:5390,525,0
chr1	21983817	rs543692001	G	C	1627.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.234;ClippingRankSum=0;DP=155;ExcessHet=3.0103;FS=0.598;MLEAC=1;MLEAF=0.5;MQ=48.19;MQRankSum=0.641;QD=10.5;ReadPosRankSum=-0.757;SOR=0.639;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|missense_variant|MODERATE|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|5/8|c.486G>C|p.Trp162Cys|632/1034|486/813|162/270||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19584;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310310;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:86,69:155:99:1656,0,2295
chr1	21983918	rs28468423	A	G	2864.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.85;QD=28.71;SOR=2.412;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28468423;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|5/7|c.499+88A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4067;p3_1000G_AF=0.812101;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=20332;p3_1000G_EAS_AF=0.752;p3_1000G_EUR_AF=0.8748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310411;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,65:65:99:1|1:21983918_A_G:2893,196,0
chr1	21983920	rs7549398	A	G	2864.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.91;QD=32.79;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7549398;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|5/7|c.499+90A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3703;p3_1000G_AF=0.739417;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=20418;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310413;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,61:61:99:1|1:21983918_A_G:2893,196,0
chr1	21984169	rs6426735	G	T	1752.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.871;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426735;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|5/7|c.500-20G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=4209;p3_1000G_AF=0.840455;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=17501;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.9423;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310662;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3322,1084;ESP6500_AA_AGE=711.2+/-408.0;ESP6500_AA_GTC=1265,792,146;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=40;ESP6500_EA_AC=8109,491;ESP6500_EA_AGE=791.5+/-407.5;ESP6500_EA_GTC=3823,463,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:intron;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21984169;ESP6500_GTC=5088,1255,160;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.500-20G>T;ESP6500_MAF=5.7093,24.6028,12.1098;ESP6500_TAC=11431,1575	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1781,177,0
chr1	21984181	rs7538207	C	T	1685.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=0.728;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7538207;dbSNPBuildID=116;ANN=T|splice_region_variant&intron_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|5/7|c.500-8C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4253;p3_1000G_AF=0.849241;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=17747;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.9722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3344,1062;ESP6500_AA_AGE=720.6+/-409.1;ESP6500_AA_GTC=1279,786,138;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=45;ESP6500_EA_AC=8383,217;ESP6500_EA_AGE=808.5+/-407.2;ESP6500_EA_GTC=4084,215,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:intron;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21984181;ESP6500_GTC=5363,1001,139;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.500-8C>T;ESP6500_MAF=2.5233,24.1035,9.8339;ESP6500_TAC=11727,1279	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1714,171,0
chr1	21984232	rs3820287	G	C	1770.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=1.412;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820287;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|6/8|c.543G>C|p.Pro181Pro|689/1034|543/813|181/270||;ESP6500_AA=T;ESP6500_AA_AC=3330,1076;ESP6500_AA_AGE=392.8+/-328.6;ESP6500_AA_GTC=1271,788,144;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-6.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=8108,492;ESP6500_EA_AGE=142.5+/-198.7;ESP6500_EA_GTC=3822,464,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:coding-synonymous;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21984232;ESP6500_GTC=5093,1252,158;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.543G>C;ESP6500_HGVS_PROTEIN_VAR=NM_007352.2:p.(P181);ESP6500_MAF=5.7209,24.4212,12.056;ESP6500_TAC=11438,1568	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1799,168,0
chr1	21984331	rs1803531	T	C	944.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.54;QD=31.49;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1803531;dbSNPBuildID=129;ANN=C|splice_region_variant&synonymous_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|6/8|c.642T>C|p.Asn214Asn|788/1034|642/813|214/270||;p3_1000G_AA=C|||;p3_1000G_AC=4473;p3_1000G_AF=0.893171;p3_1000G_AFR_AF=0.8434;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=19347;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22310824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3777,629;ESP6500_AA_AGE=272.8+/-271.0;ESP6500_AA_GTC=1622,533,48;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-8.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=90;ESP6500_EA_AC=8527,69;ESP6500_EA_AGE=41.7+/-99.0;ESP6500_EA_GTC=4230,67,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:coding-synonymous-near-splice;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21984331;ESP6500_GTC=5852,600,49;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.642T>C;ESP6500_HGVS_PROTEIN_VAR=NM_007352.2:p.(N214);ESP6500_MAF=0.8027,14.276,5.3684;ESP6500_TAC=12304,698	GT:AD:DP:GQ:PL	1/1:0,30:30:90:973,90,0
chr1	21986524	rs61777963	G	T	1168.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=2.554;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61777963;dbSNPBuildID=129;ANN=T|splice_region_variant&intron_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|6/7|c.643-7G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=607;p3_1000G_AF=0.121206;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=14660;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22313017;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=447,3959;ESP6500_AA_AGE=211.5+/-231.7;ESP6500_AA_GTC=33,381,1789;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=60;ESP6500_EA_AC=1402,7198;ESP6500_EA_AGE=270.1+/-288.8;ESP6500_EA_GTC=121,1160,3019;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:intron;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21986524;ESP6500_GTC=154,1541,4808;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.643-7G>T;ESP6500_MAF=16.3023,10.1453,14.2165;ESP6500_TAC=1849,11157	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1197,114,0
chr1	21986668	rs1803530	T	C	1267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.4;QD=30.18;SOR=1.9;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1803530;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|7/8|c.780T>C|p.Ile260Ile|926/1034|780/813|260/270||;p3_1000G_AA=C|||;p3_1000G_AC=4411;p3_1000G_AF=0.880791;p3_1000G_AFR_AF=0.792;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=12954;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22313161;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3555,851;ESP6500_AA_AGE=330.4+/-301.5;ESP6500_AA_GTC=1439,677,87;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=0.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=39;ESP6500_EA_AC=8520,80;ESP6500_EA_AGE=46.7+/-105.8;ESP6500_EA_GTC=4221,78,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:coding-synonymous;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21986668;ESP6500_GTC=5660,755,88;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.780T>C;ESP6500_HGVS_PROTEIN_VAR=NM_007352.2:p.(I260);ESP6500_MAF=0.9302,19.3146,7.1582;ESP6500_TAC=12075,931	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1296,126,0
chr1	21986704	rs34963341	C	A	969.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.32;QD=33.44;SOR=2.546;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34963341;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|CELA3B|CELA3B|transcript|NM_007352.3|protein_coding|7/7|c.795+21C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3066;p3_1000G_AF=0.61222;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=13750;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.7525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22313197;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2881,1523;ESP6500_AA_GTC=947,987,268;ESP6500_CDS_SIZES=NM_007352.2:813;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=20;ESP6500_EA_AC=6329,2227;ESP6500_EA_GTC=2360,1609,309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007352.2:intron;ESP6500_GL=CELA3B;ESP6500_GRCh38_POSITION=1:21986704;ESP6500_GTC=3307,2596,577;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_007352.2:c.795+21C>A;ESP6500_MAF=26.0285,34.5822,28.9352;ESP6500_TAC=9210,3750	GT:AD:DP:GQ:PL	1/1:0,29:29:87:998,87,0
chr1	21998212	rs7534936	T	C	999.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7534936;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding||c.-3463T>C|||||3444|,C|intergenic_region|MODIFIER|CELA3B-CELA3A|CELA3B-CELA3A|intergenic_region|CELA3B-CELA3A|||n.21998212T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=20768;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22324705;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1028,105,0
chr1	22001497	rs61685243	C	A	539.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.95;QD=33.74;SOR=5.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61685243;dbSNPBuildID=129;ANN=A|upstream_gene_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding||c.-178C>A|||||159|,A|intergenic_region|MODIFIER|CELA3B-CELA3A|CELA3B-CELA3A|intergenic_region|CELA3B-CELA3A|||n.22001497C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=385;p3_1000G_AF=0.076877;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=18537;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22327990;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:568,48,0
chr1	22001566	rs60569739	G	C	1132.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.48;QD=32.28;SOR=3.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60569739;dbSNPBuildID=129;ANN=C|upstream_gene_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding||c.-109G>C|||||90|,C|intergenic_region|MODIFIER|CELA3B-CELA3A|CELA3B-CELA3A|intergenic_region|CELA3B-CELA3A|||n.22001566G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=402;p3_1000G_AF=0.0802716;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=17456;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22328059;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:78:1|1:22001566_G_C:1161,78,0
chr1	22001568	rs58302058	G	T	1132.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.95;QD=34.51;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs58302058;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding||c.-107G>T|||||88|,T|intergenic_region|MODIFIER|CELA3B-CELA3A|CELA3B-CELA3A|intergenic_region|CELA3B-CELA3A|||n.22001568G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=402;p3_1000G_AF=0.0802716;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=17400;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22328061;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:22001566_G_C:1161,78,0
chr1	22001599	rs60864719	A	G	1538.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.69;QD=29.49;SOR=3.545;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60864719;dbSNPBuildID=129;ANN=G|upstream_gene_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding||c.-76A>G|||||57|,G|intergenic_region|MODIFIER|CELA3B-CELA3A|CELA3B-CELA3A|intergenic_region|CELA3B-CELA3A|||n.22001599A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=404;p3_1000G_AF=0.0806709;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=17583;p3_1000G_EAS_AF=0.1151;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22328092;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:99:1|1:22001599_A_G:1567,105,0
chr1	22001608	rs61154890	C	CT	1536.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.11;QD=28.72;SOR=3.545;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61154890;dbSNPBuildID=129;ANN=CT|upstream_gene_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding||c.-67_-66insT|||||47|,CT|intergenic_region|MODIFIER|CELA3B-CELA3A|CELA3B-CELA3A|intergenic_region|CELA3B-CELA3A|||n.22001608_22001609insT||||||;p3_1000G_AA=?|-|T|unsure;p3_1000G_AC=14;p3_1000G_AF=0.00279553;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17985;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22328101;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:99:1|1:22001599_A_G:1574,105,0
chr1	22001609	rs56819861	C	T	1545.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.17;QD=21.26;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56819861;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding||c.-66C>T|||||47|,T|intergenic_region|MODIFIER|CELA3B-CELA3A|CELA3B-CELA3A|intergenic_region|CELA3B-CELA3A|||n.22001609C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,34:34:99:1|1:22001599_A_G:1574,105,0
chr1	22001735	rs59115023	C	G	3113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=105;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.91;QD=29.94;SOR=1.146;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs59115023;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|1/7|c.43+18C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=405;p3_1000G_AF=0.0808706;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=18191;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22328228;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=386,4012;ESP6500_AA_AGE=788.0+/-414.9;ESP6500_AA_GTC=33,320,1846;ESP6500_CDS_SIZES=NM_005747.4:813;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=178;ESP6500_EA_AC=471,8129;ESP6500_EA_AGE=798.2+/-407.4;ESP6500_EA_GTC=24,423,3853;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005747.4:intron;ESP6500_GL=CELA3A;ESP6500_GRCh38_POSITION=1:22001735;ESP6500_GTC=57,743,5699;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005747.4:c.43+18C>G;ESP6500_MAF=5.4767,8.7767,6.5933;ESP6500_TAC=857,12141	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3142,312,0
chr1	22002914	rs12756442	G	C	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.98;QD=25.19;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12756442;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|1/7|c.44-89G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1615;p3_1000G_AF=0.322484;p3_1000G_AFR_AF=0.1936;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=17143;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22329407;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:22002914_G_C:270,18,0
chr1	22002924	rs7533677	T	C	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.98;QD=32.55;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7533677;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|1/7|c.44-79T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1158;p3_1000G_AF=0.23123;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=16988;p3_1000G_EAS_AF=0.1389;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22329417;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:22002914_G_C:270,18,0
chr1	22003152	rs4543768	T	C	41.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.95;QD=20.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4543768;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|2/7|c.129+64T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2638;p3_1000G_AF=0.526757;p3_1000G_AFR_AF=0.7005;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=16074;p3_1000G_EAS_AF=0.6389;p3_1000G_EUR_AF=0.3101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22329645;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:69,6,0
chr1	22003188	rs41300124	T	C	194.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.09;QD=27.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41300124;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|2/7|c.129+100T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=369;p3_1000G_AF=0.0736821;p3_1000G_AFR_AF=0.0734;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=17723;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22329681;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:223,21,0
chr1	22005319	rs1175587762	T	A	693.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.6;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=2.643;MLEAC=1;MLEAF=0.5;MQ=52.44;MQRankSum=-7.438;QD=11.76;ReadPosRankSum=0.68;SOR=1.321;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|2/7|c.130-128T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,20:59:99:0|1:22005319_T_A:722,0,4234
chr1	22005329	rs59210655	C	T	843.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.056;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=1.531;MLEAC=1;MLEAF=0.5;MQ=52.24;MQRankSum=-7.751;QD=12.98;ReadPosRankSum=-0.963;SOR=0.421;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59210655;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|2/7|c.130-118C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:41,24:65:99:0|1:22005319_T_A:872,0,4479
chr1	22005336	rs57093046	C	A	864.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.689;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.88;MQRankSum=-8.132;QD=11.69;ReadPosRankSum=0.424;SOR=0.763;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57093046;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|2/7|c.130-111C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:49,25:74:99:0|1:22005319_T_A:893,0,4593
chr1	22005515	rs56968853	T	C	791.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=172;ExcessHet=3.0103;FS=21.208;MLEAC=1;MLEAF=0.5;MQ=55.91;MQRankSum=-12.69;QD=4.69;ReadPosRankSum=-0.172;SOR=2.117;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56968853;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|3/8|c.198T>C|p.Asp66Asp|217/907|198/813|66/270||	GT:AD:DP:GQ:PL	0/1:125,44:169:99:820,0,3294
chr1	22009784	rs3820285	C	G	1948.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820285;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|7/8|c.722C>G|p.Ala241Gly|741/907|722/813|241/270||;p3_1000G_AA=c|||;p3_1000G_AC=4486;p3_1000G_AF=0.895767;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DP=14755;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.9771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22336277;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4047,347;ESP6500_AA_AGE=180.1+/-208.5;ESP6500_AA_GTC=1876,295,26;ESP6500_CDS_SIZES=NM_005747.4:813;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=75;ESP6500_EA_AC=8391,209;ESP6500_EA_AGE=89.9+/-152.1;ESP6500_EA_GTC=4096,199,5;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005747.4:missense;ESP6500_GL=CELA3A;ESP6500_GRCh38_POSITION=1:22009784;ESP6500_GS=60;ESP6500_GTC=5972,494,31;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005747.4:c.722C>G;ESP6500_HGVS_PROTEIN_VAR=NM_005747.4:p.(A241G);ESP6500_MAF=2.4302,7.8971,4.2789;ESP6500_PH=benign:0.0;ESP6500_TAC=12438,556	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1977,183,0
chr1	22009878	rs3806297	C	A	1260.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.78;QD=29.32;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3806297;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|7/7|c.795+21C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2548;p3_1000G_AF=0.508786;p3_1000G_AFR_AF=0.4773;p3_1000G_AMR_AF=0.4395;p3_1000G_AN=5008;p3_1000G_DP=19405;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.7247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22336371;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2156,2246;ESP6500_AA_GTC=472,1212,517;ESP6500_CDS_SIZES=NM_005747.4:813;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=36;ESP6500_EA_AC=6055,2545;ESP6500_EA_GTC=2130,1795,375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005747.4:intron;ESP6500_GL=CELA3A;ESP6500_GRCh38_POSITION=1:22009878;ESP6500_GTC=2602,3007,892;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005747.4:c.795+21C>A;ESP6500_MAF=29.593,48.9777,36.8482;ESP6500_TAC=8211,4791	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1289,129,0
chr1	22010150	rs60189068	G	C	488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.19;QD=32.58;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60189068;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|CELA3A|CELA3A|transcript|NM_005747.4|protein_coding|7/7|c.795+293G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=676;p3_1000G_AF=0.134984;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=18716;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22336643;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:517,45,0
chr1	22081972	rs2056976	C	T	150.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2056976;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|CDC42|CDC42|transcript|NM_001039802.1|protein_coding|4/6|c.178+178C>T||||||,T|intron_variant|MODIFIER|CDC42|CDC42|transcript|NM_044472.2|protein_coding|3/5|c.178+178C>T||||||,T|intron_variant|MODIFIER|CDC42|CDC42|transcript|NM_001791.3|protein_coding|3/5|c.178+178C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4866;p3_1000G_AF=0.971645;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=20743;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22408465;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:179,15,0
chr1	22121152	rs41420150	C	CTG	896.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=3.716;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs41420150;dbSNPBuildID=127;ANN=CTG|intron_variant|MODIFIER|WNT4|WNT4|transcript|NM_030761.4|protein_coding|4/4|c.588+57_588+58dupCA||||||;p3_1000G_AC=4285;p3_1000G_AF=0.855631;p3_1000G_AFR_AF=0.7897;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=18708;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22447645;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8855;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,20:20:63:934,63,0
chr1	22489769	rs1267005	T	C	1487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1267005;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_001083621.1|protein_coding|2/18|c.-69-111T>C||||||,C|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_014870.3|protein_coding|1/17|c.-69-111T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4003;p3_1000G_AF=0.799321;p3_1000G_AFR_AF=0.9357;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=24428;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22816262;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1516,129,0
chr1	22506250	rs209732	A	T	263.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs209732;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_001083621.1|protein_coding|7/18|c.1360+9A>T||||||,T|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_014870.3|protein_coding|6/17|c.1360+9A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4002;p3_1000G_AF=0.799121;p3_1000G_AFR_AF=0.9357;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=20585;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.6272;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22832743;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3903,503;ESP6500_AA_AGE=212.2+/-232.1;ESP6500_AA_GTC=1734,435,34;ESP6500_CDS_SIZES=NM_014870.3:3720,NM_001083621.1:3720;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=49;ESP6500_EA_AC=5301,3299;ESP6500_EA_AGE=487.3+/-372.1;ESP6500_EA_GTC=1641,2019,640;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014870.3:intron,NM_001083621.1:intron;ESP6500_GL=ZBTB40;ESP6500_GRCh38_POSITION=1:22506250;ESP6500_GTC=3375,2454,674;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_014870.3:c.1360+9A>T,NM_001083621.1:c.1360+9A>T;ESP6500_MAF=38.3605,11.4163,29.2327;ESP6500_TAC=9204,3802	GT:AD:DP:GQ:PL	1/1:0,8:8:24:292,24,0
chr1	22509184	rs209729	A	G	1947.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs209729;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|ZBTB40|ZBTB40|transcript|NM_001083621.1|protein_coding|10/19|c.1784A>G|p.Tyr595Cys|2295/8992|1784/3720|595/1239||,G|missense_variant|MODERATE|ZBTB40|ZBTB40|transcript|NM_014870.3|protein_coding|9/18|c.1784A>G|p.Tyr595Cys|2007/8704|1784/3720|595/1239||;p3_1000G_AA=G|||;p3_1000G_AC=4119;p3_1000G_AF=0.822484;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=17714;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.7167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22835677;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3983,423;ESP6500_AA_AGE=204.8+/-226.9;ESP6500_AA_GTC=1808,367,28;ESP6500_CDS_SIZES=NM_014870.3:3720,NM_001083621.1:3720;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=134;ESP6500_EA_AC=6185,2415;ESP6500_EA_AGE=401.6+/-347.2;ESP6500_EA_GTC=2231,1723,346;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014870.3:missense,NM_001083621.1:missense;ESP6500_GL=ZBTB40;ESP6500_GRCh38_POSITION=1:22509184;ESP6500_GS=194,194;ESP6500_GTC=4039,2090,374;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014870.3:c.1784A>G,NM_001083621.1:c.1784A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014870.3:p.(Y595C),NM_001083621.1:p.(Y595C);ESP6500_MAF=28.0814,9.6005,21.8207;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10168,2838	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1976,198,0
chr1	22511093	rs34404742;rs562252999;rs71020429	CT	C	699.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.32;ReadPosRankSum=1.11;SOR=0.6;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34404742,rs71020429;dbSNPBuildID=126,142,130;ANN=C|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_001083621.1|protein_coding|10/18|c.1834-69delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_014870.3|protein_coding|9/17|c.1834-69delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2616;p3_1000G_AF=0.522364;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=21912;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22837586;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:3,27:30:41:667,41,0
chr1	22511451	rs2073168	T	C	1493.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2073168;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_001083621.1|protein_coding|11/18|c.2002+104T>C||||||,C|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_014870.3|protein_coding|10/17|c.2002+104T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1668;p3_1000G_AF=0.333067;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=20995;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22837944;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1522,120,0
chr1	22520216	rs209720	G	A	1765.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs209720;dbSNPBuildID=79;ANN=A|missense_variant|MODERATE|ZBTB40|ZBTB40|transcript|NM_001083621.1|protein_coding|15/19|c.2989G>A|p.Val997Met|3500/8992|2989/3720|997/1239||,A|missense_variant|MODERATE|ZBTB40|ZBTB40|transcript|NM_014870.3|protein_coding|14/18|c.2989G>A|p.Val997Met|3212/8704|2989/3720|997/1239||;p3_1000G_AA=A|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=21334;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22846709;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4401,5;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=2198,5,0;ESP6500_CDS_SIZES=NM_014870.3:3720,NM_001083621.1:3720;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=85;ESP6500_EA_AC=8554,46;ESP6500_EA_AGE=29.6+/-80.5;ESP6500_EA_GTC=4254,46,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014870.3:missense,NM_001083621.1:missense;ESP6500_GL=ZBTB40;ESP6500_GRCh38_POSITION=1:22520216;ESP6500_GS=21,21;ESP6500_GTC=6452,51,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014870.3:c.2989G>A,NM_001083621.1:c.2989G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014870.3:p.(V997M),NM_001083621.1:p.(V997M);ESP6500_MAF=0.5349,0.1135,0.3921;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=12955,51	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1794,173,0
chr1	22522510	rs998978	A	C	1047.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.45;SOR=2.753;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs998978;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_001083621.1|protein_coding|17/18|c.3298+47A>C||||||,C|intron_variant|MODIFIER|ZBTB40|ZBTB40|transcript|NM_014870.3|protein_coding|16/17|c.3298+47A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1593;p3_1000G_AF=0.318091;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=18624;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22849003;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=705,3701;ESP6500_AA_AGE=293.6+/-282.7;ESP6500_AA_GTC=62,581,1560;ESP6500_CDS_SIZES=NM_014870.3:3720,NM_001083621.1:3720;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=89;ESP6500_EA_AC=3174,5426;ESP6500_EA_AGE=478.9+/-370.0;ESP6500_EA_GTC=576,2022,1702;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014870.3:intron,NM_001083621.1:intron;ESP6500_GL=ZBTB40;ESP6500_GRCh38_POSITION=1:22522510;ESP6500_GTC=638,2603,3262;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014870.3:c.3298+47A>C,NM_001083621.1:c.3298+47A>C;ESP6500_MAF=36.907,16.0009,29.8247;ESP6500_TAC=3879,9127	GT:AD:DP:GQ:PL	1/1:0,27:27:81:1076,81,0
chr1	22526222	rs881646	G	C	1304.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=1.096;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs881646;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|ZBTB40|ZBTB40|transcript|NM_001083621.1|protein_coding|19/19|c.3546G>C|p.Pro1182Pro|4057/8992|3546/3720|1182/1239||,C|synonymous_variant|LOW|ZBTB40|ZBTB40|transcript|NM_014870.3|protein_coding|18/18|c.3546G>C|p.Pro1182Pro|3769/8704|3546/3720|1182/1239||;p3_1000G_AA=G|||;p3_1000G_AC=1593;p3_1000G_AF=0.318091;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=17902;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.3936;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22852715;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=704,3702;ESP6500_AA_AGE=293.3+/-282.5;ESP6500_AA_GTC=61,582,1560;ESP6500_CDS_SIZES=NM_014870.3:3720,NM_001083621.1:3720;ESP6500_CG=-11.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=76;ESP6500_EA_AC=3172,5428;ESP6500_EA_AGE=479.8+/-370.2;ESP6500_EA_GTC=572,2028,1700;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014870.3:coding-synonymous,NM_001083621.1:coding-synonymous;ESP6500_GL=ZBTB40;ESP6500_GRCh38_POSITION=1:22526222;ESP6500_GTC=633,2610,3260;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014870.3:c.3546G>C,NM_001083621.1:c.3546G>C;ESP6500_HGVS_PROTEIN_VAR=NM_014870.3:p.(P1182),NM_001083621.1:p.(P1182);ESP6500_MAF=36.8837,15.9782,29.8016;ESP6500_TAC=3876,9130	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1333,117,0
chr1	22576279	rs56218493	C	T	1435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.15;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=1.646;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=1.73;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56218493;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|3/17|c.222C>T|p.Asn74Asn|356/5005|222/3018|74/1005||,T|synonymous_variant|LOW|EPHA8|EPHA8|transcript|NM_001006943.2|protein_coding|3/5|c.222C>T|p.Asn74Asn|356/1862|222/1488|74/495||;p3_1000G_AA=C|||;p3_1000G_AC=514;p3_1000G_AF=0.102636;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=18435;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22902772;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=348,4058;ESP6500_AA_AGE=181.2+/-209.3;ESP6500_AA_GTC=20,308,1875;ESP6500_CDS_SIZES=NM_020526.3:3018,NM_001006943.1:1488;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=100;ESP6500_EA_AC=783,7817;ESP6500_EA_AGE=185.6+/-233.3;ESP6500_EA_GTC=42,699,3559;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020526.3:coding-synonymous,NM_001006943.1:coding-synonymous;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22576279;ESP6500_GTC=62,1007,5434;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.222C>T,NM_001006943.1:c.222C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020526.3:p.(N74),NM_001006943.1:p.(N74);ESP6500_MAF=9.1047,7.8983,8.696;ESP6500_TAC=1131,11875	GT:AD:DP:GQ:PL	0/1:42,60:102:99:1464,0,1080
chr1	22576983	rs72875422	A	G	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=1.38;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72875422;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|3/16|c.823+103A>G||||||,G|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_001006943.2|protein_coding|3/4|c.823+103A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=604;p3_1000G_AF=0.120607;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=16532;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22903476;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:177,0,132
chr1	22586660	rs638058	T	C	751.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0.937;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.535;SOR=0.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs638058;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|4/16|c.979+25T>C||||||,C|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_001006943.2|protein_coding|4/4|c.979+25T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2430;p3_1000G_AF=0.485224;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=15017;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.3658;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22913153;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2935,1471;ESP6500_AA_AGE=449.4+/-349.0;ESP6500_AA_GTC=976,983,244;ESP6500_CDS_SIZES=NM_020526.3:3018,NM_001006943.1:1488;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=32;ESP6500_EA_AC=2989,5611;ESP6500_EA_AGE=639.0+/-399.4;ESP6500_EA_GTC=509,1971,1820;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020526.3:intron,NM_001006943.1:intron;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22586660;ESP6500_GTC=1485,2954,2064;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.979+25T>C,NM_001006943.1:c.979+25T>C;ESP6500_MAF=34.7558,33.3863,45.5482;ESP6500_TAC=5924,7082	GT:AD:DP:GQ:PL	0/1:37,31:68:99:780,0,884
chr1	22589181	rs56044578	G	A	1238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.594;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.686;SOR=0.649;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56044578;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|5/17|c.1290G>A|p.Val430Val|1424/5005|1290/3018|430/1005||,A|synonymous_variant|LOW|EPHA8|EPHA8|transcript|NM_001006943.2|protein_coding|5/5|c.1290G>A|p.Val430Val|1424/1862|1290/1488|430/495||;p3_1000G_AA=G|||;p3_1000G_AC=423;p3_1000G_AF=0.0844649;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=17862;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.0815;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22915674;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=224,4182;ESP6500_AA_AGE=127.8+/-164.7;ESP6500_AA_GTC=6,212,1985;ESP6500_CDS_SIZES=NM_020526.3:3018,NM_001006943.1:1488;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=34;ESP6500_EA_AC=609,7991;ESP6500_EA_AGE=155.2+/-209.3;ESP6500_EA_GTC=31,547,3722;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020526.3:coding-synonymous,NM_001006943.1:coding-synonymous;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22589181;ESP6500_GTC=37,759,5707;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.1290G>A,NM_001006943.1:c.1290G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020526.3:p.(V430),NM_001006943.1:p.(V430);ESP6500_MAF=7.0814,5.084,6.4047;ESP6500_TAC=833,12173	GT:AD:DP:GQ:PL	0/1:35,49:84:99:1267,0,938
chr1	22589260	rs606002	T	C	821.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.56;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-0.408;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs606002;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|EPHA8|EPHA8|transcript|NM_001006943.2|protein_coding|5/5|c.1369T>C|p.Ser457Pro|1503/1862|1369/1488|457/495||,C|sequence_feature|LOW|EPHA8|EPHA8|domain:Fibronectin_type-III_2|NM_020526.4|protein_coding|5/16|c.1315+54T>C||||||,C|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|5/16|c.1315+54T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2413;p3_1000G_AF=0.481829;p3_1000G_AFR_AF=0.7126;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=17459;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.3777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22915753;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2884,1520;ESP6500_AA_AGE=454.2+/-350.6;ESP6500_AA_GTC=938,1008,256;ESP6500_CDS_SIZES=NM_020526.3:3018,NM_001006943.1:1488;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=36;ESP6500_EA_AC=3067,5533;ESP6500_EA_AGE=632.9+/-398.7;ESP6500_EA_GTC=536,1995,1769;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020526.3:intron,NM_001006943.1:missense;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22589260;ESP6500_GS=.,74;ESP6500_GTC=1474,3003,2025;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.1315+54T>C,NM_001006943.1:c.1369T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001006943.1:p.(S457P);ESP6500_MAF=35.6628,34.5141,45.7628;ESP6500_PH=.,benign:0.0;ESP6500_TAC=5951,7053	GT:AD:DP:GQ:PL	0/1:24,30:54:99:850,0,551
chr1	22589365	rs76452513	C	T	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.714;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=1.05;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76452513;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|EPHA8|EPHA8|transcript|NM_001006943.2|protein_coding|5/5|c.1474C>T|p.Leu492Phe|1608/1862|1474/1488|492/495||,T|sequence_feature|LOW|EPHA8|EPHA8|domain:Fibronectin_type-III_2|NM_020526.4|protein_coding|5/16|c.1315+159C>T||||||,T|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|5/16|c.1315+159C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=468;p3_1000G_AF=0.0934505;p3_1000G_AFR_AF=0.0779;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=18884;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.0815;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22915858;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=352,4046;ESP6500_AA_GTC=18,316,1865;ESP6500_CDS_SIZES=NM_020526.3:3018,NM_001006943.1:1488;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=44;ESP6500_EA_AC=598,7988;ESP6500_EA_GTC=28,542,3723;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020526.3:intron,NM_001006943.1:missense;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22589365;ESP6500_GS=.,22;ESP6500_GTC=46,858,5588;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.1315+159C>T,NM_001006943.1:c.1474C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_001006943.1:p.(L492F);ESP6500_MAF=6.9648,8.0036,7.3167;ESP6500_PH=.,benign:0.0;ESP6500_TAC=950,12034	GT:AD:DP:GQ:PL	0/1:10,9:19:99:314,0,332
chr1	22600633	rs55821293	C	T	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.409;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=-0.304;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55821293;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|13/16|c.2389-28C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=273;p3_1000G_AF=0.0545128;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=17727;p3_1000G_EAS_AF=0.0446;p3_1000G_EUR_AF=0.0785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22927126;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP;ESP6500_AA_AC=100,4306;ESP6500_AA_AGE=76.2+/-114.5;ESP6500_AA_GTC=0,100,2103;ESP6500_CDS_SIZES=NM_020526.3:3018;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=36;ESP6500_EA_AC=610,7990;ESP6500_EA_AGE=152.7+/-207.2;ESP6500_EA_GTC=31,548,3721;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020526.3:intron;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22600633;ESP6500_GTC=31,648,5824;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.2389-28C>T;ESP6500_MAF=7.093,2.2696,5.459;ESP6500_TAC=710,12296	GT:AD:DP:GQ:PL	0/1:13,21:34:99:576,0,369
chr1	22600821	rs209702	A	G	809.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.456;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=9.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-2.039;SOR=0.671;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs209702;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|14/16|c.2538+11A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=15332;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.4264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22927314;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=SNP;ESP6500_AA_AC=3157,1249;ESP6500_AA_AGE=423.8+/-340.2;ESP6500_AA_GTC=1154,849,200;ESP6500_CDS_SIZES=NM_020526.3:3018;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=70;ESP6500_EA_AC=3479,5121;ESP6500_EA_AGE=630.2+/-398.3;ESP6500_EA_GTC=710,2059,1531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020526.3:intron;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22600821;ESP6500_GTC=1864,2908,1731;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.2538+11A>G;ESP6500_MAF=40.4535,28.3477,48.9774;ESP6500_TAC=6636,6370	GT:AD:DP:GQ:PL	0/1:41,32:73:99:838,0,1172
chr1	22600915	rs56055011	G	A	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.388;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=2.12;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.452;SOR=0.992;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56055011;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|15/17|c.2556G>A|p.Glu852Glu|2690/5005|2556/3018|852/1005||;p3_1000G_AA=g|||;p3_1000G_AC=265;p3_1000G_AF=0.0529153;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=14858;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22927408;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA_AC=70,4336;ESP6500_AA_AGE=62.9+/-100.1;ESP6500_AA_GTC=0,70,2133;ESP6500_CDS_SIZES=NM_020526.3:3018;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=46;ESP6500_EA_AC=611,7987;ESP6500_EA_AGE=157.5+/-211.1;ESP6500_EA_GTC=30,551,3718;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020526.3:coding-synonymous;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22600915;ESP6500_GTC=30,621,5851;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.2556G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020526.3:p.(E852);ESP6500_MAF=7.1063,1.5887,5.2369;ESP6500_TAC=681,12323	GT:AD:DP:GQ:PL	0/1:47,24:71:99:592,0,1380
chr1	22600999	rs150399375	G	A	1023.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.081;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=1.056;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=0.093;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150399375;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|15/17|c.2640G>A|p.Ala880Ala|2774/5005|2640/3018|880/1005||;p3_1000G_AA=G|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17244;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22927492;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,42:61:99:1052,0,459
chr1	22601515	rs767288588;~rs113696995	AG	A	46.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.37;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.539;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=-0.132;SOR=0.16;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|16/16|c.2903+51delG||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=284,671,2957;ESP6500_AA_GTC=42,14,186,49,559,1106;ESP6500_CDS_SIZES=NM_020526.3:3018,NM_020526.3:3018;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=10;ESP6500_EA_AC=95,1479,6108;ESP6500_EA_GTC=12,2,69,43,1391,2324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020526.3:intron,NM_020526.3:intron;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22601515;ESP6500_GTC=54,16,255,92,1950,3430;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.2903+43del1,NM_020526.3:c.2903+42_2903+43insG;ESP6500_MAF=20.4895,24.4121,21.813;ESP6500_TAC=379,2150,9065	GT:AD:DP:GQ:PL	0/1:13,4:17:84:84,0,315
chr1	22601772	rs209700	A	G	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.474;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs209700;dbSNPBuildID=79;ANN=G|3_prime_UTR_variant|MODIFIER|EPHA8|EPHA8|transcript|NM_020526.4|protein_coding|17/17|c.*31A>G|||||31|;p3_1000G_AA=A|||;p3_1000G_AC=3140;p3_1000G_AF=0.626997;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=14588;p3_1000G_EAS_AF=0.3631;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22928265;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3631,485;ESP6500_AA_GTC=1643,345,70;ESP6500_CDS_SIZES=NM_020526.3:3018;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=6;ESP6500_EA_AC=3623,4513;ESP6500_EA_GTC=924,1775,1369;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020526.3:utr-3;ESP6500_GL=EPHA8;ESP6500_GRCh38_POSITION=1:22601772;ESP6500_GTC=2567,2120,1439;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020526.3:c.*31A>G;ESP6500_MAF=44.5305,11.7833,40.7933;ESP6500_TAC=7254,4998	GT:AD:DP:GQ:PL	0/1:10,9:19:99:283,0,266
chr1	22661465	rs10580	A	G	1234.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.5;SOR=2.517;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10580;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|C1QB|C1QB|transcript|NM_000491.3|protein_coding|3/3|c.*79A>G|||||79|;p3_1000G_AA=G|||;p3_1000G_AC=4965;p3_1000G_AF=0.991414;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=20401;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=22987958;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1263,99,0
chr1	22710879	.	G	A	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=A|5_prime_UTR_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_001309193.1|protein_coding|1/17|c.-104G>A|||||104|,A|5_prime_UTR_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_001309192.1|protein_coding|1/14|c.-104G>A|||||104|,A|5_prime_UTR_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_004442.7|protein_coding|1/16|c.-104G>A|||||104|,A|5_prime_UTR_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_017449.4|protein_coding|1/16|c.-104G>A|||||104|	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	22781334	rs113980406	A	G	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.262;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.7;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113980406;dbSNPBuildID=132;ANN=G|sequence_feature|LOW|EPHB2|EPHB2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001309193.1|protein_coding|1/16|c.62-87A>G||||||,G|sequence_feature|LOW|EPHB2|EPHB2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_004442.7|protein_coding|1/15|c.62-87A>G||||||,G|sequence_feature|LOW|EPHB2|EPHB2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_017449.4|protein_coding|1/15|c.62-87A>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_001309193.1|protein_coding|1/16|c.62-87A>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_001309192.1|protein_coding|1/13|c.62-87A>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_004442.7|protein_coding|1/15|c.62-87A>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_017449.4|protein_coding|1/15|c.62-87A>G||||||	GT:AD:DP:GQ:PL	0/1:4,5:9:99:148,0,148
chr1	22781339	rs3738296	A	G	61.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.951;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.12;ReadPosRankSum=1.64;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738296;dbSNPBuildID=107;ANN=G|sequence_feature|LOW|EPHB2|EPHB2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001309193.1|protein_coding|1/16|c.62-82A>G||||||,G|sequence_feature|LOW|EPHB2|EPHB2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_004442.7|protein_coding|1/15|c.62-82A>G||||||,G|sequence_feature|LOW|EPHB2|EPHB2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_017449.4|protein_coding|1/15|c.62-82A>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_001309193.1|protein_coding|1/16|c.62-82A>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_001309192.1|protein_coding|1/13|c.62-82A>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_004442.7|protein_coding|1/15|c.62-82A>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_017449.4|protein_coding|1/15|c.62-82A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1035;p3_1000G_AF=0.206669;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=12363;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.1024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23107832;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:90:90,0,414
chr1	22882432	rs2229872	G	A	1247.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229872;dbSNPBuildID=102;ANN=A|synonymous_variant|LOW|EPHB2|EPHB2|transcript|NM_001309193.1|protein_coding|6/17|c.1377G>A|p.Pro459Pro|1522/10943|1377/3168|459/1055||,A|synonymous_variant|LOW|EPHB2|EPHB2|transcript|NM_001309192.1|protein_coding|6/14|c.1377G>A|p.Pro459Pro|1522/10862|1377/2787|459/928||,A|synonymous_variant|LOW|EPHB2|EPHB2|transcript|NM_004442.7|protein_coding|6/16|c.1377G>A|p.Pro459Pro|1522/11039|1377/2964|459/987||,A|synonymous_variant|LOW|EPHB2|EPHB2|transcript|NM_017449.4|protein_coding|6/16|c.1377G>A|p.Pro459Pro|1522/11036|1377/2961|459/986||;p3_1000G_AA=G|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=22352;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.0755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23208925;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=728,3678;ESP6500_AA_AGE=299.8+/-286.0;ESP6500_AA_GTC=63,602,1538;ESP6500_CDS_SIZES=NM_017449.3:2961,NM_004442.6:2964;ESP6500_CG=-8.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=141;ESP6500_EA_AC=807,7793;ESP6500_EA_AGE=188.6+/-235.5;ESP6500_EA_GTC=41,725,3534;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017449.3:coding-synonymous,NM_004442.6:coding-synonymous;ESP6500_GL=EPHB2;ESP6500_GRCh38_POSITION=1:22882432;ESP6500_GTC=104,1327,5072;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017449.3:c.1377G>A,NM_004442.6:c.1377G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017449.3:p.(P459),NM_004442.6:p.(P459);ESP6500_MAF=9.3837,16.5229,11.8022;ESP6500_TAC=1535,11471	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1276,120,0
chr1	22893000	rs309472	T	C	1267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs309472;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|EPHB2|EPHB2|transcript|NM_001309193.1|protein_coding|7/17|c.1545T>C|p.Gly515Gly|1690/10943|1545/3168|515/1055||,C|synonymous_variant|LOW|EPHB2|EPHB2|transcript|NM_001309192.1|protein_coding|7/14|c.1545T>C|p.Gly515Gly|1690/10862|1545/2787|515/928||,C|synonymous_variant|LOW|EPHB2|EPHB2|transcript|NM_004442.7|protein_coding|7/16|c.1545T>C|p.Gly515Gly|1690/11039|1545/2964|515/987||,C|synonymous_variant|LOW|EPHB2|EPHB2|transcript|NM_017449.4|protein_coding|7/16|c.1545T>C|p.Gly515Gly|1690/11036|1545/2961|515/986||;p3_1000G_AA=C|||;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19594;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23219493;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4396,10;ESP6500_AA_AGE=15.5+/-35.6;ESP6500_AA_GTC=2193,10,0;ESP6500_CDS_SIZES=NM_017449.3:2961,NM_004442.6:2964;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=67;ESP6500_EA_AC=8534,66;ESP6500_EA_AGE=39.3+/-95.6;ESP6500_EA_GTC=4234,66,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017449.3:coding-synonymous,NM_004442.6:coding-synonymous;ESP6500_GL=EPHB2;ESP6500_GRCh38_POSITION=1:22893000;ESP6500_GTC=6427,76,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017449.3:c.1545T>C,NM_004442.6:c.1545T>C;ESP6500_HGVS_PROTEIN_VAR=NM_017449.3:p.(G515),NM_004442.6:p.(G515);ESP6500_MAF=0.7674,0.227,0.5843;ESP6500_TAC=12930,76	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1296,117,0
chr1	22910356	rs1273229536	C	G	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.59;ReadPosRankSum=1.89;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_001309193.1|protein_coding|13/16|c.2503-26C>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_001309192.1|protein_coding|11/13|c.2329-26C>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_004442.7|protein_coding|13/15|c.2506-26C>G||||||,G|intron_variant|MODIFIER|EPHB2|EPHB2|transcript|NM_017449.4|protein_coding|13/15|c.2503-26C>G||||||	GT:AD:DP:GQ:PL	0/1:3,17:20:60:480,0,60
chr1	22953931	rs12048993	G	T	999.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12048993;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|LACTBL1|LACTBL1|transcript|NM_001289974.1|protein_coding|6/6|c.843C>A|p.Asn281Lys|845/1733|843/1731|281/576||WARNING_TRANSCRIPT_NO_START_CODON;p3_1000G_AA=G|||;p3_1000G_AC=1975;p3_1000G_AF=0.394369;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=13429;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.3648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23280424;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1028,99,0
chr1	22963075	rs10799777	T	C	1013.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10799777;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LACTBL1|LACTBL1|transcript|NM_001289974.1|protein_coding|2/5|c.249+32A>G||||||WARNING_TRANSCRIPT_NO_START_CODON;p3_1000G_AA=C|||;p3_1000G_AC=2200;p3_1000G_AF=0.439297;p3_1000G_AFR_AF=0.1967;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=20219;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23289568;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1042,87,0
chr1	23015700	rs10917344	C	G	155.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.97;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10917344;dbSNPBuildID=120;ANN=G|sequence_feature|MODERATE|C1orf234|C1orf234|signal-peptide:match_to_sequence_model_evidence_used_in_manual_assertion|NM_001242521.1|protein_coding|1/2|c.2+72G>C||||||,G|upstream_gene_variant|MODIFIER|KDM1A|KDM1A|transcript|NM_001009999.2|protein_coding||c.-3897C>G|||||3748|,G|upstream_gene_variant|MODIFIER|KDM1A|KDM1A|transcript|NM_015013.3|protein_coding||c.-3897C>G|||||3748|,G|intron_variant|MODIFIER|C1orf234|C1orf234|transcript|NM_001242521.1|protein_coding|1/2|c.2+72G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2022;p3_1000G_AF=0.403754;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=17561;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23342193;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:184,18,0
chr1	23015869	rs681648	A	G	107.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs681648;dbSNPBuildID=83;ANN=G|upstream_gene_variant|MODIFIER|C1orf234|C1orf234|transcript|NM_001242521.1|protein_coding||c.-96T>C|||||19|,G|upstream_gene_variant|MODIFIER|KDM1A|KDM1A|transcript|NM_001009999.2|protein_coding||c.-3728A>G|||||3579|,G|upstream_gene_variant|MODIFIER|KDM1A|KDM1A|transcript|NM_015013.3|protein_coding||c.-3728A>G|||||3579|,G|intergenic_region|MODIFIER|C1orf234-KDM1A|C1orf234-KDM1A|intergenic_region|C1orf234-KDM1A|||n.23015869A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3678;p3_1000G_AF=0.734425;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=19998;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.8241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23342362;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:135,12,0
chr1	23053705	rs579785	A	G	1074.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=2.546;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs579785;dbSNPBuildID=83;ANN=G|downstream_gene_variant|MODIFIER|MIR4419A|MIR4419A|transcript|NR_039614.1|pseudogene||n.*4153T>C|||||4153|,G|intron_variant|MODIFIER|KDM1A|KDM1A|transcript|NM_001009999.2|protein_coding|4/20|c.712-56A>G||||||,G|intron_variant|MODIFIER|KDM1A|KDM1A|transcript|NM_015013.3|protein_coding|3/18|c.652-56A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3754;p3_1000G_AF=0.749601;p3_1000G_AFR_AF=0.8487;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=18965;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23380198;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1154,230;ESP6500_AA_GTC=482,190,20;ESP6500_CDS_SIZES=NM_015013.3:2559,NM_001009999.2:2631;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=69;ESP6500_EA_AC=2641,541;ESP6500_EA_GTC=1099,443,49;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015013.3:intron,NM_001009999.2:intron;ESP6500_GL=KDM1A;ESP6500_GRCh38_POSITION=1:23053705;ESP6500_GTC=1581,633,69;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015013.3:c.652-56A>G,NM_001009999.2:c.712-56A>G;ESP6500_MAF=17.0019,16.6185,16.8857;ESP6500_TAC=3795,771	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1103,87,0
chr1	23073439	rs967605	C	T	757.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs967605;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|KDM1A|KDM1A|transcript|NM_001009999.2|protein_coding|15/20|c.1734+36C>T||||||,T|intron_variant|MODIFIER|KDM1A|KDM1A|transcript|NM_015013.3|protein_coding|13/18|c.1662+36C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3705;p3_1000G_AF=0.739816;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=21763;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23399932;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3544,862;ESP6500_AA_AGE=336.5+/-304.4;ESP6500_AA_GTC=1429,686,88;ESP6500_CDS_SIZES=NM_015013.3:2559,NM_001009999.2:2631;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=115;ESP6500_EA_AC=7130,1470;ESP6500_EA_AGE=279.1+/-293.8;ESP6500_EA_GTC=2961,1208,131;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015013.3:intron,NM_001009999.2:intron;ESP6500_GL=KDM1A;ESP6500_GRCh38_POSITION=1:23073439;ESP6500_GTC=4390,1894,219;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015013.3:c.1662+36C>T,NM_001009999.2:c.1734+36C>T;ESP6500_MAF=17.093,19.5642,17.9302;ESP6500_TAC=10674,2332	GT:AD:DP:GQ:PL	1/1:0,24:24:72:786,72,0
chr1	23091660	rs10799790	C	T	2119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.69;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10799790;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|LUZP1|LUZP1|transcript|NM_001142546.1|protein_coding|3/4|c.2602G>A|p.Asp868Asn|2920/8421|2602/3231|868/1076||,T|missense_variant|MODERATE|LUZP1|LUZP1|transcript|NM_033631.3|protein_coding|4/5|c.2602G>A|p.Asp868Asn|2986/8487|2602/3231|868/1076||;p3_1000G_AA=T|||;p3_1000G_AC=3737;p3_1000G_AF=0.746206;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=19242;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23418153;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3607,799;ESP6500_AA_AGE=319.3+/-296.1;ESP6500_AA_GTC=1485,637,81;ESP6500_CDS_SIZES=NM_033631.3:3231,NM_001142546.1:3231;ESP6500_CG=2.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=103;ESP6500_EA_AC=7132,1468;ESP6500_EA_AGE=279.5+/-294.0;ESP6500_EA_GTC=2964,1204,132;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033631.3:missense,NM_001142546.1:missense;ESP6500_GL=LUZP1;ESP6500_GRCh38_POSITION=1:23091660;ESP6500_GS=23,23;ESP6500_GTC=4449,1841,213;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033631.3:c.2602G>A,NM_001142546.1:c.2602G>A;ESP6500_HGVS_PROTEIN_VAR=NM_033631.3:p.(D868N),NM_001142546.1:p.(D868N);ESP6500_MAF=17.0698,18.1344,17.4304;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10739,2267	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,59:59:99:1|1:23091656_C_A:2148,177,0
chr1	23092768	rs477717	G	A	3030.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs477717;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|LUZP1|LUZP1|transcript|NM_001142546.1|protein_coding|3/4|c.1494C>T|p.Ser498Ser|1812/8421|1494/3231|498/1076||,A|synonymous_variant|LOW|LUZP1|LUZP1|transcript|NM_033631.3|protein_coding|4/5|c.1494C>T|p.Ser498Ser|1878/8487|1494/3231|498/1076||;p3_1000G_AA=G|||;p3_1000G_AC=3458;p3_1000G_AF=0.690495;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=20032;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.828;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23419261;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2892,1514;ESP6500_AA_AGE=672.0+/-402.6;ESP6500_AA_GTC=967,958,278;ESP6500_CDS_SIZES=NM_033631.3:3231,NM_001142546.1:3231;ESP6500_CG=-1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=244;ESP6500_EA_AC=7120,1480;ESP6500_EA_AGE=749.0+/-407.4;ESP6500_EA_GTC=2953,1214,133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033631.3:coding-synonymous,NM_001142546.1:coding-synonymous;ESP6500_GL=LUZP1;ESP6500_GRCh38_POSITION=1:23092768;ESP6500_GTC=3920,2172,411;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033631.3:c.1494C>T,NM_001142546.1:c.1494C>T;ESP6500_HGVS_PROTEIN_VAR=NM_033631.3:p.(S498),NM_001142546.1:p.(S498);ESP6500_MAF=17.2093,34.3622,23.0201;ESP6500_TAC=10012,2994	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3059,294,0
chr1	23092881	rs3765407	G	T	3330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=0.774;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3765407;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|LUZP1|LUZP1|transcript|NM_001142546.1|protein_coding|3/4|c.1381C>A|p.Gln461Lys|1699/8421|1381/3231|461/1076||,T|missense_variant|MODERATE|LUZP1|LUZP1|transcript|NM_033631.3|protein_coding|4/5|c.1381C>A|p.Gln461Lys|1765/8487|1381/3231|461/1076||;p3_1000G_AA=G|||;p3_1000G_AC=3390;p3_1000G_AF=0.676917;p3_1000G_AFR_AF=0.5923;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=19079;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.828;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23419374;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2712,1694;ESP6500_AA_AGE=640.2+/-397.3;ESP6500_AA_GTC=852,1008,343;ESP6500_CDS_SIZES=NM_033631.3:3231,NM_001142546.1:3231;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=111;ESP6500_EA_AC=7117,1483;ESP6500_EA_AGE=746.7+/-407.3;ESP6500_EA_GTC=2950,1217,133;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033631.3:missense,NM_001142546.1:missense;ESP6500_GL=LUZP1;ESP6500_GRCh38_POSITION=1:23092881;ESP6500_GS=53,53;ESP6500_GTC=3802,2225,476;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_033631.3:c.1381C>A,NM_001142546.1:c.1381C>A;ESP6500_HGVS_PROTEIN_VAR=NM_033631.3:p.(Q461K),NM_001142546.1:p.(Q461K);ESP6500_MAF=17.2442,38.4476,24.4272;ESP6500_PH=possibly-damaging:0.634,possibly-damaging:0.634;ESP6500_TAC=9829,3177	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,75:75:99:1|1:23092881_G_T:3359,229,0
chr1	23092890	rs477830	C	T	3191.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs477830;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|LUZP1|LUZP1|transcript|NM_001142546.1|protein_coding|3/4|c.1372G>A|p.Gly458Ser|1690/8421|1372/3231|458/1076||,T|missense_variant|MODERATE|LUZP1|LUZP1|transcript|NM_033631.3|protein_coding|4/5|c.1372G>A|p.Gly458Ser|1756/8487|1372/3231|458/1076||;p3_1000G_AA=C|||;p3_1000G_AC=3457;p3_1000G_AF=0.690296;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=18876;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.828;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23419383;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2893,1513;ESP6500_AA_AGE=664.0+/-401.3;ESP6500_AA_GTC=968,957,278;ESP6500_CDS_SIZES=NM_033631.3:3231,NM_001142546.1:3231;ESP6500_CG=4.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=113;ESP6500_EA_AC=7120,1480;ESP6500_EA_AGE=747.8+/-407.3;ESP6500_EA_GTC=2952,1216,132;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033631.3:missense,NM_001142546.1:missense;ESP6500_GL=LUZP1;ESP6500_GRCh38_POSITION=1:23092890;ESP6500_GS=56,56;ESP6500_GTC=3920,2173,410;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033631.3:c.1372G>A,NM_001142546.1:c.1372G>A;ESP6500_HGVS_PROTEIN_VAR=NM_033631.3:p.(G458S),NM_001142546.1:p.(G458S);ESP6500_MAF=17.2093,34.3395,23.0125;ESP6500_PH=benign:0.038,benign:0.038;ESP6500_TAC=10013,2993	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,72:72:99:1|1:23092881_G_T:3220,217,0
chr1	23093362	rs1983965	T	C	3882.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=0.71;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1983965;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|LUZP1|LUZP1|transcript|NM_001142546.1|protein_coding|3/4|c.900A>G|p.Thr300Thr|1218/8421|900/3231|300/1076||,C|synonymous_variant|LOW|LUZP1|LUZP1|transcript|NM_033631.3|protein_coding|4/5|c.900A>G|p.Thr300Thr|1284/8487|900/3231|300/1076||;p3_1000G_AA=C|||;p3_1000G_AC=3743;p3_1000G_AF=0.747404;p3_1000G_AFR_AF=0.8434;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=21999;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.828;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23419855;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3621,785;ESP6500_AA_AGE=315.5+/-294.2;ESP6500_AA_GTC=1494,633,76;ESP6500_CDS_SIZES=NM_033631.3:3231,NM_001142546.1:3231;ESP6500_CG=-5.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=189;ESP6500_EA_AC=7134,1466;ESP6500_EA_AGE=278.3+/-293.3;ESP6500_EA_GTC=2966,1202,132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033631.3:coding-synonymous,NM_001142546.1:coding-synonymous;ESP6500_GL=LUZP1;ESP6500_GRCh38_POSITION=1:23093362;ESP6500_GTC=4460,1835,208;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033631.3:c.900A>G,NM_001142546.1:c.900A>G;ESP6500_HGVS_PROTEIN_VAR=NM_033631.3:p.(T300),NM_001142546.1:p.(T300);ESP6500_MAF=17.0465,17.8166,17.3074;ESP6500_TAC=10755,2251	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3911,357,0
chr1	23337617	rs77241175	G	A	449.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs77241175;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|HNRNPR|HNRNPR|transcript|NM_001102398.2|protein_coding|4/10|c.384+137C>T||||||,A|intron_variant|MODIFIER|HNRNPR|HNRNPR|transcript|NM_001102397.2|protein_coding|3/9|c.81+137C>T||||||,A|intron_variant|MODIFIER|HNRNPR|HNRNPR|transcript|NM_001102399.2|protein_coding|3/9|c.81+137C>T||||||,A|intron_variant|MODIFIER|HNRNPR|HNRNPR|transcript|NM_001297620.1|protein_coding|4/9|c.384+137C>T||||||,A|intron_variant|MODIFIER|HNRNPR|HNRNPR|transcript|NM_001297621.1|protein_coding|3/8|c.81+137C>T||||||,A|intron_variant|MODIFIER|HNRNPR|HNRNPR|transcript|NM_001297622.1|protein_coding|3/8|c.81+137C>T||||||,A|intron_variant|MODIFIER|HNRNPR|HNRNPR|transcript|NM_005826.4|protein_coding|4/10|c.384+137C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=80;p3_1000G_AF=0.0159744;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13761;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23664110;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:478,45,0
chr1	23362440	rs2849028	A	G	1872.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.44;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2849028;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|ZNF436|ZNF436|transcript|NM_001077195.1|protein_coding|4/4|c.942T>C|p.Asn314Asn|1501/4493|942/1413|314/470||,G|synonymous_variant|LOW|ZNF436|ZNF436|transcript|NM_030634.2|protein_coding|3/3|c.942T>C|p.Asn314Asn|1323/4315|942/1413|314/470||;p3_1000G_AA=A|||;p3_1000G_AC=2554;p3_1000G_AF=0.509984;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=20985;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.7256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23688933;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1227,3179;ESP6500_AA_AGE=425.5+/-340.8;ESP6500_AA_GTC=184,859,1160;ESP6500_CDS_SIZES=NM_030634.2:1413,NM_001077195.1:1413;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=120;ESP6500_EA_AC=6290,2310;ESP6500_EA_AGE=705.6+/-405.5;ESP6500_EA_GTC=2288,1714,298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030634.2:coding-synonymous,NM_001077195.1:coding-synonymous;ESP6500_GL=ZNF436;ESP6500_GRCh38_POSITION=1:23362440;ESP6500_GTC=2472,2573,1458;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_030634.2:c.942T>C,NM_001077195.1:c.942T>C;ESP6500_HGVS_PROTEIN_VAR=NM_030634.2:p.(N314),NM_001077195.1:p.(N314);ESP6500_MAF=26.8605,27.8484,42.2036;ESP6500_TAC=7517,5489	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1901,168,0
chr1	23366929	rs2849025	T	C	521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.74;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2849025;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|ZNF436-AS1|ZNF436-AS1|transcript|NR_033690.1|pseudogene||n.-2042T>C|||||2042|,C|upstream_gene_variant|MODIFIER|ZNF436-AS1|ZNF436-AS1|transcript|NR_033691.1|pseudogene||n.-2289T>C|||||2289|,C|intron_variant|MODIFIER|ZNF436|ZNF436|transcript|NM_001077195.1|protein_coding|3/3|c.160+113A>G||||||,C|intron_variant|MODIFIER|ZNF436|ZNF436|transcript|NM_030634.2|protein_coding|2/2|c.160+113A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2611;p3_1000G_AF=0.521366;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=21871;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.7306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23693422;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:550,42,0
chr1	23383982	rs2298632	C	T	1279.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2298632;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TCEA3|TCEA3|transcript|NM_003196.2|protein_coding|10/10|c.1038+364G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1849;p3_1000G_AF=0.369209;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=22510;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.4871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23710475;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1308,123,0
chr1	23384312	rs605468	A	G	2922.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=1.192;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs605468;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|TCEA3|TCEA3|transcript|NM_003196.2|protein_coding|10/10|c.1038+34T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4266;p3_1000G_AF=0.851837;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=21408;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.9145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23710805;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3302,856;ESP6500_AA_GTC=1305,692,82;ESP6500_CDS_SIZES=NM_003196.1:1047;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=106;ESP6500_EA_AC=7753,697;ESP6500_EA_GTC=3550,653,22;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003196.1:intron;ESP6500_GL=TCEA3;ESP6500_GRCh38_POSITION=1:23384312;ESP6500_GTC=4855,1345,104;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003196.1:c.1038+34T>C;ESP6500_MAF=8.2485,20.5868,12.3176;ESP6500_TAC=11055,1553	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2951,258,0
chr1	23387459	rs676363	T	G	827.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs676363;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|TCEA3|TCEA3|transcript|NM_003196.2|protein_coding|8/10|c.820-40A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4267;p3_1000G_AF=0.852037;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=20958;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.9145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23713952;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3150,800;ESP6500_AA_GTC=1247,656,72;ESP6500_CDS_SIZES=NM_003196.1:1047;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=26;ESP6500_EA_AC=7643,675;ESP6500_EA_GTC=3508,627,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003196.1:intron;ESP6500_GL=TCEA3;ESP6500_GRCh38_POSITION=1:23387459;ESP6500_GTC=4755,1283,96;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003196.1:c.820-40A>C;ESP6500_MAF=8.1149,20.2532,12.0231;ESP6500_TAC=10793,1475	GT:AD:DP:GQ:PL	1/1:0,26:26:78:856,78,0
chr1	23397690	rs2275355	C	T	1223.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.07;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275355;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TCEA3|TCEA3|transcript|NM_003196.2|protein_coding|6/10|c.608-89G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2266;p3_1000G_AF=0.452476;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=22008;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.7127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23724183;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1252,111,0
chr1	23408748	rs1198423	G	T	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.291;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-2.356;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1198423;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|TCEA3|TCEA3|transcript|NM_003196.2|protein_coding|4/10|c.381-22C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4219;p3_1000G_AF=0.842452;p3_1000G_AFR_AF=0.7579;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=20868;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.8767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23735241;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3077,813;ESP6500_AA_GTC=1213,651,81;ESP6500_CDS_SIZES=NM_003196.1:1047;ESP6500_CG=4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=66;ESP6500_EA_AC=7216,1062;ESP6500_EA_GTC=3139,938,62;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003196.1:intron;ESP6500_GL=TCEA3;ESP6500_GRCh38_POSITION=1:23408748;ESP6500_GTC=4352,1589,143;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003196.1:c.381-22C>A;ESP6500_MAF=12.8292,20.8997,15.4093;ESP6500_TAC=10293,1875	GT:AD:DP:GQ:PL	0/1:10,17:27:99:393,0,260
chr1	23424647	rs71514235	G	T	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.691;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=1.53;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71514235;dbSNPBuildID=130;ANN=T|5_prime_UTR_variant|MODIFIER|TCEA3|TCEA3|transcript|NM_003196.2|protein_coding|1/11|c.-14C>A|||||14|,T|downstream_gene_variant|MODIFIER|ASAP3|ASAP3|transcript|NM_017707.3|protein_coding||c.*5209C>A|||||3916|,T|downstream_gene_variant|MODIFIER|ASAP3|ASAP3|transcript|NM_001143778.1|protein_coding||c.*5209C>A|||||3916|;p3_1000G_AA=G|||;p3_1000G_AC=2232;p3_1000G_AF=0.445687;p3_1000G_AFR_AF=0.0855;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=9836;p3_1000G_EAS_AF=0.5506;p3_1000G_EUR_AF=0.672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23751140;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=899,3019;ESP6500_AA_GTC=112,675,1172;ESP6500_CDS_SIZES=NM_003196.1:1047;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=55;ESP6500_EA_AC=5609,2709;ESP6500_EA_GTC=1886,1837,436;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003196.1:utr-5;ESP6500_GL=TCEA3;ESP6500_GRCh38_POSITION=1:23424647;ESP6500_GTC=1998,2512,1608;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003196.1:c.-14C>A;ESP6500_MAF=32.5679,22.9454,46.8127;ESP6500_TAC=6508,5728	GT:AD:DP:GQ:PL	0/1:9,5:14:97:97,0,270
chr1	23431641	rs1198434	A	G	541.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.851;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=0.716;SOR=0.731;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1198434;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|ASAP3|ASAP3|transcript|NM_017707.3|protein_coding|23/24|c.2546+55T>C||||||,G|intron_variant|MODIFIER|ASAP3|ASAP3|transcript|NM_001143778.1|protein_coding|22/23|c.2519+55T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4362;p3_1000G_AF=0.871006;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=19140;p3_1000G_EAS_AF=0.881;p3_1000G_EUR_AF=0.8907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23758134;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:45,25:70:99:570,0,1181
chr1	23438979	rs1767148	A	G	799.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.13;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=5.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=-0.35;SOR=1.931;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1767148;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ASAP3|ASAP3|transcript|NM_017707.3|protein_coding|11/24|c.1015-145T>C||||||,G|intron_variant|MODIFIER|ASAP3|ASAP3|transcript|NM_001143778.1|protein_coding|10/23|c.988-145T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4357;p3_1000G_AF=0.870008;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=19659;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23765472;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,22:34:99:828,0,355
chr1	23452872	rs540380915	G	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.171;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.72;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.061;SOR=1.095;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|ASAP3|ASAP3|transcript|NM_017707.3|protein_coding|3/24|c.349-101C>T||||||,A|intron_variant|MODIFIER|ASAP3|ASAP3|transcript|NM_001143778.1|protein_coding|3/23|c.349-101C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20022;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23779365;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:328,0,427
chr1	23509872	rs2075993	A	G	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.471;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=1.01;SOR=0.868;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075993;dbSNPBuildID=96;ANN=G|3_prime_UTR_variant|MODIFIER|E2F2|E2F2|transcript|NM_004091.3|protein_coding|7/7|c.*8T>C|||||8|;p3_1000G_AA=A|||;p3_1000G_AC=1747;p3_1000G_AF=0.348842;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=18631;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.5219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23836364;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=596,3810;ESP6500_AA_GTC=44,508,1651;ESP6500_CDS_SIZES=NM_004091.3:1314;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=33;ESP6500_EA_AC=4347,4251;ESP6500_EA_GTC=1116,2115,1068;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004091.3:utr-3;ESP6500_GL=E2F2;ESP6500_GRCh38_POSITION=1:23509872;ESP6500_GTC=1160,2623,2719;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004091.3:c.*8T>C;ESP6500_MAF=49.4417,13.527,38.0114;ESP6500_TAC=4943,8061	GT:AD:DP:GQ:PL	0/1:14,12:26:99:271,0,350
chr1	23516618	rs2075994	C	T	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.195;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=1.77;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075994;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|E2F2|E2F2|transcript|NM_004091.3|protein_coding|5/6|c.853-91G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=16462;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.0547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23843110;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:99:287,0,131
chr1	23519250	rs3218175	C	T	222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.588;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.097;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3218175;dbSNPBuildID=106;ANN=T|upstream_gene_variant|MODIFIER|LOC101928163|LOC101928163|transcript|NR_110799.1|pseudogene||n.-2680C>T|||||2680|,T|intron_variant|MODIFIER|E2F2|E2F2|transcript|NM_004091.3|protein_coding|4/6|c.738-120G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=764;p3_1000G_AF=0.152556;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=20697;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.0557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23845742;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:251,0,219
chr1	23520972	rs2075995	C	A	501.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.316;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.12;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075995;dbSNPBuildID=96;ANN=A|missense_variant|MODERATE|E2F2|E2F2|transcript|NM_004091.3|protein_coding|4/7|c.678G>T|p.Gln226His|1105/5193|678/1314|226/437||,A|upstream_gene_variant|MODIFIER|LOC101928163|LOC101928163|transcript|NR_110799.1|pseudogene||n.-958C>A|||||958|;p3_1000G_AA=C|||;p3_1000G_AC=1779;p3_1000G_AF=0.355232;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=15948;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.5089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23847464;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=564,3842;ESP6500_AA_AGE=250.0+/-257.2;ESP6500_AA_GTC=40,484,1679;ESP6500_CDS_SIZES=NM_004091.3:1314;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=105;ESP6500_EA_AC=4324,4276;ESP6500_EA_AGE=579.2+/-390.8;ESP6500_EA_GTC=1079,2166,1055;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004091.3:missense;ESP6500_GL=E2F2;ESP6500_GRCh38_POSITION=1:23520972;ESP6500_GS=24;ESP6500_GTC=1119,2650,2734;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_004091.3:c.678G>T;ESP6500_HGVS_PROTEIN_VAR=NM_004091.3:p.(Q226H);ESP6500_MAF=49.7209,12.8007,37.5827;ESP6500_PH=probably-damaging:0.985;ESP6500_TAC=4888,8118	GT:AD:DP:GQ:PL	0/1:15,24:39:99:530,0,416
chr1	23559007	rs11574	T	C	1855.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11574;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|ID3|ID3|transcript|NM_002167.4|protein_coding|2/3|c.313A>G|p.Thr105Ala|681/1239|313/360|105/119||;p3_1000G_AA=C|||;p3_1000G_AC=4459;p3_1000G_AF=0.890375;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=19174;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.7575;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23885498;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4141,265;ESP6500_AA_AGE=148.4+/-182.8;ESP6500_AA_GTC=1950,241,12;ESP6500_CDS_SIZES=NM_002167.4:360;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=77;ESP6500_EA_AC=6549,2051;ESP6500_EA_AGE=356.1+/-330.2;ESP6500_EA_GTC=2484,1581,235;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002167.4:missense;ESP6500_GL=ID3;ESP6500_GRCh38_POSITION=1:23559007;ESP6500_GS=58;ESP6500_GTC=4434,1822,247;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002167.4:c.313A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002167.4:p.(T105A);ESP6500_MAF=23.8488,6.0145,17.8072;ESP6500_PH=benign:0.0;ESP6500_TAC=10690,2316	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1884,165,0
chr1	23559108	rs2067053	T	C	745.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=4.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.23;SOR=0.681;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2067053;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|ID3|ID3|transcript|NM_002167.4|protein_coding|1/2|c.300+19A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2322;p3_1000G_AF=0.463658;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=17711;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.337;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23885599;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2539,1867;ESP6500_AA_AGE=529.8+/-372.8;ESP6500_AA_GTC=755,1029,419;ESP6500_CDS_SIZES=NM_002167.4:360;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=56;ESP6500_EA_AC=2812,5788;ESP6500_EA_AGE=672.6+/-402.9;ESP6500_EA_GTC=420,1972,1908;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002167.4:intron;ESP6500_GL=ID3;ESP6500_GRCh38_POSITION=1:23559108;ESP6500_GTC=1175,3001,2327;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002167.4:c.300+19A>G;ESP6500_MAF=32.6977,42.374,41.1425;ESP6500_TAC=5351,7655	GT:AD:DP:GQ:PL	0/1:39,29:68:99:774,0,883
chr1	23559582	rs2742946	T	C	129.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2742946;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|ID3|ID3|transcript|NM_002167.4|protein_coding|1/3|c.-156A>G|||||156|;p3_1000G_AA=C|||;p3_1000G_AC=2179;p3_1000G_AF=0.435104;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=12756;p3_1000G_EAS_AF=0.5972;p3_1000G_EUR_AF=0.4801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23886073;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:158,15,0
chr1	23639027	rs61777309	G	A	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.84;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61777309;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|MDS2|MDS2|transcript|NR_027042.1|pseudogene|4/6|n.591-82G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1430;p3_1000G_AF=0.285543;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=18328;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23965517;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:154,0,151
chr1	23639214	rs10917403	A	C	755.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.026;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.43;ReadPosRankSum=1.33;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10917403;dbSNPBuildID=120;ANN=C|non_coding_transcript_exon_variant|MODIFIER|MDS2|MDS2|transcript|NR_027042.1|pseudogene|5/7|n.696A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1374;p3_1000G_AF=0.274361;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=18926;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23965704;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=212,1540;ESP6500_AA_GTC=9,194,673;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=36;ESP6500_EA_AC=952,3030;ESP6500_EA_GTC=108,736,1147;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:23639214;ESP6500_GTC=117,930,1820;ESP6500_GTS=CC,CA,AA;ESP6500_MAF=23.9076,12.1005,20.3;ESP6500_TAC=1164,4570	GT:AD:DP:GQ:PL	0/1:12,29:41:99:784,0,297
chr1	23639339	rs10917404	C	T	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.884;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.143;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.572;SOR=0.214;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10917404;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MDS2|MDS2|transcript|NR_027042.1|pseudogene|5/6|n.733+88C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1373;p3_1000G_AF=0.274161;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=19521;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23965829;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,14:23:99:323,0,265
chr1	23640347	rs1317329	C	T	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.165;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.644;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1317329;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|MDS2|MDS2|transcript|NR_027042.1|pseudogene|6/6|n.850-42C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1384;p3_1000G_AF=0.276358;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=22745;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23966837;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:157,0,185
chr1	23640404	rs3072132;rs5773050	T	TAAG	319.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.241;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=5.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.32;ReadPosRankSum=1.03;SOR=1.806;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5773050,rs3072132;dbSNPBuildID=102,138;ANN=TAAG|non_coding_transcript_exon_variant|MODIFIER|MDS2|MDS2|transcript|NR_027042.1|pseudogene|7/7|n.871_873dupGAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1386;p3_1000G_AF=0.276757;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=20101;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23966894;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,8:15:99:357,0,284
chr1	23640669	rs1317345	G	A	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.052;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=2.77;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1317345;dbSNPBuildID=88;ANN=A|downstream_gene_variant|MODIFIER|MDS2|MDS2|transcript|NR_027042.1|pseudogene||n.*103G>A|||||103|,A|intergenic_region|MODIFIER|MDS2-RPL11|MDS2-RPL11|intergenic_region|MDS2-RPL11|||n.23640669G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2349;p3_1000G_AF=0.46905;p3_1000G_AFR_AF=0.3404;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=20077;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23967159;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:243,0,171
chr1	23691787	rs10917413;138926	C	G	967.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10917413;dbSNPBuildID=120;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPL11|RPL11|transcript|NM_000975.3|protein_coding|1/6|c.-37C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPL11|RPL11|transcript|NM_001199802.1|protein_coding|1/6|c.-37C>G||||||,G|5_prime_UTR_variant|MODIFIER|RPL11|RPL11|transcript|NM_000975.3|protein_coding|1/6|c.-37C>G|||||37|,G|5_prime_UTR_variant|MODIFIER|RPL11|RPL11|transcript|NM_001199802.1|protein_coding|1/6|c.-37C>G|||||37|;p3_1000G_AA=G|||;p3_1000G_AC=4892;p3_1000G_AF=0.976837;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16947;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24018277;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4199,207;ESP6500_AA_AGE=128.2+/-165.1;ESP6500_AA_GTC=2000,199,4;ESP6500_CDS_SIZES=NM_001199802.1:534,NM_000975.3:537;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=72;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001199802.1:utr-5,NM_000975.3:utr-5;ESP6500_GL=RPL11;ESP6500_GRCh38_POSITION=1:23691787;ESP6500_GTC=6297,202,4;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001199802.1:c.-37C>G,NM_000975.3:c.-37C>G;ESP6500_MAF=0.0349,4.6981,1.6146;ESP6500_TAC=12796,210;CLINVAR_ALLELEID=142629;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004810,MedGen:C1260899,Orphanet:ORPHA124,SNOMED_CT:88854002;CLINVAR_CLNDN=Diamond-Blackfan_anemia;CLINVAR_CLNHGVS=NC_000001.11:g.23691787C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1017;CLINVAR_GENEINFO=RPL11:6135;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10917413	GT:AD:DP:GQ:PL	1/1:0,31:31:93:996,93,0
chr1	23695947	rs2280437	A	G	1087.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2280437;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RPL11|RPL11|transcript|NM_000975.3|protein_coding|5/5|c.507+39A>G||||||,G|intron_variant|MODIFIER|RPL11|RPL11|transcript|NM_001199802.1|protein_coding|5/5|c.504+39A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1671;p3_1000G_AF=0.333666;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=22574;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.3827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24022437;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=860,3506;ESP6500_AA_GTC=95,670,1418;ESP6500_CDS_SIZES=NM_001199802.1:534,NM_000975.3:537;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=3449,5107;ESP6500_EA_GTC=754,1941,1583;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001199802.1:intron,NM_000975.3:intron;ESP6500_GL=RPL11;ESP6500_GRCh38_POSITION=1:23695947;ESP6500_GTC=849,2611,3001;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001199802.1:c.504+39A>G,NM_000975.3:c.507+39A>G;ESP6500_MAF=40.3109,19.6977,33.3462;ESP6500_TAC=4309,8613	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1116,102,0
chr1	23755794	.	AAT	A	42.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.234;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.94;ReadPosRankSum=0.406;SOR=0.527;DEL;HET;VARTYPE=DEL;ANN=A|downstream_gene_variant|MODIFIER|TCEB3-AS1|TCEB3-AS1|transcript|NR_038280.1|pseudogene||n.*4586_*4587delAT|||||4587|,A|intron_variant|MODIFIER|TCEB3|TCEB3|transcript|NM_003198.2|protein_coding|7/10|c.1870-46_1870-45delAT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=530,3580;ESP6500_AA_GTC=70,390,1595;ESP6500_CDS_SIZES=NM_003198.2:2397;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DP=22;ESP6500_EA_AC=2528,5672;ESP6500_EA_GTC=429,1670,2001;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003198.2:intron;ESP6500_GL=TCEB3;ESP6500_GRCh38_POSITION=1:23755794;ESP6500_GTC=499,2060,3596;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003198.2:c.1870-48_1870-47del2;ESP6500_MAF=30.8293,12.8954,24.8416;ESP6500_TAC=3058,9252	GT:AD:DP:GQ:PL	0/1:16,6:22:80:80,0,312
chr1	23755795	rs369591541	AT	A	220.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.186;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.034;SOR=0.412;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369591541;dbSNPBuildID=138;ANN=A|downstream_gene_variant|MODIFIER|TCEB3-AS1|TCEB3-AS1|transcript|NR_038280.1|pseudogene||n.*4586delA|||||4586|,A|intron_variant|MODIFIER|TCEB3|TCEB3|transcript|NM_003198.2|protein_coding|7/10|c.1870-47delT||||||;ESP6500_AA_AC=124,8,472,3564;ESP6500_AA_GTC=17,0,17,73,0,4,4,31,389,1549;ESP6500_CDS_SIZES=NM_003198.2:2397,NM_003198.2:2397,NM_003198.2:2397;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DP=22;ESP6500_EA_AC=510,2,2120,5586;ESP6500_EA_GTC=42,0,208,218,0,0,2,185,1542,1912;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003198.2:intron,NM_003198.2:intron,NM_003198.2:intron;ESP6500_GL=TCEB3;ESP6500_GRCh38_POSITION=1:23755795;ESP6500_GTC=59,0,225,291,0,4,6,216,1931,3461;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_003198.2:c.1870-47del4,NM_003198.2:c.1870-47_1870-45del3,NM_003198.2:c.1870-47_1870-46del2;ESP6500_MAF=32.0273,14.4914,26.1263;ESP6500_TAC=634,10,2592,9150	GT:AD:DP:GQ:PL	0/1:8,14:22:99:258,0,113
chr1	23757004	rs2076345	C	T	1089.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076345;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|TCEB3|TCEB3|transcript|NM_003198.2|protein_coding|10/11|c.2214C>T|p.Ser738Ser|2274/4943|2214/2397|738/798||,T|downstream_gene_variant|MODIFIER|TCEB3-AS1|TCEB3-AS1|transcript|NR_038280.1|pseudogene||n.*3378G>A|||||3378|;p3_1000G_AA=C|||;p3_1000G_AC=1004;p3_1000G_AF=0.200479;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=20319;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.3101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24083494;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=581,3825;ESP6500_AA_AGE=258.0+/-262.2;ESP6500_AA_GTC=39,503,1661;ESP6500_CDS_SIZES=NM_003198.2:2397;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=172;ESP6500_EA_AC=2655,5945;ESP6500_EA_AGE=426.8+/-355.4;ESP6500_EA_GTC=400,1855,2045;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003198.2:coding-synonymous;ESP6500_GL=TCEB3;ESP6500_GRCh38_POSITION=1:23757004;ESP6500_GTC=439,2358,3706;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003198.2:c.2214C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003198.2:p.(S738);ESP6500_MAF=30.8721,13.1866,24.8808;ESP6500_TAC=3236,9770	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1118,111,0
chr1	23780020	rs3831910;rs397731041	A	AT	355.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.64;SOR=2.67;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3831910;dbSNPBuildID=107,138;ANN=AT|upstream_gene_variant|MODIFIER|TCEB3-AS1|TCEB3-AS1|transcript|NR_038280.1|pseudogene||n.-1724dupA|||||1724|,AT|intron_variant|MODIFIER|PITHD1|PITHD1|transcript|NM_020362.4|protein_coding|3/5|c.320+83dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,12:12:36:393,36,0
chr1	23798311	rs563961013	CT	C	113.7	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.134;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=1.16;SOR=0.43;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|downstream_gene_variant|MODIFIER|LYPLA2|LYPLA2|transcript|NM_007260.2|protein_coding||c.*3580delT|||||2773|,C|downstream_gene_variant|MODIFIER|HMGCL|HMGCL|transcript|NM_000191.2|protein_coding||c.*4151delA|||||3565|,C|downstream_gene_variant|MODIFIER|HMGCL|HMGCL|transcript|NM_001166059.1|protein_coding||c.*4151delA|||||3565|,C|intron_variant|MODIFIER|GALE|GALE|transcript|NM_000403.3|protein_coding|4/11|c.238-82delA||||||,C|intron_variant|MODIFIER|GALE|GALE|transcript|NM_001127621.1|protein_coding|3/10|c.238-82delA||||||,C|intron_variant|MODIFIER|GALE|GALE|transcript|NM_001008216.1|protein_coding|4/11|c.238-82delA||||||	GT:AD:DP:GQ:PL	0/1:4,8:12:95:144,0,95
chr1	23802636	rs2076343	A	G	901.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=2.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076343;dbSNPBuildID=96;ANN=G|upstream_gene_variant|MODIFIER|GALE|GALE|transcript|NM_000403.3|protein_coding||c.-3629T>C|||||2092|,G|upstream_gene_variant|MODIFIER|GALE|GALE|transcript|NM_001127621.1|protein_coding||c.-3629T>C|||||3066|,G|upstream_gene_variant|MODIFIER|GALE|GALE|transcript|NM_001008216.1|protein_coding||c.-3629T>C|||||1832|,G|intron_variant|MODIFIER|HMGCL|HMGCL|transcript|NM_000191.2|protein_coding|8/8|c.877-72T>C||||||,G|intron_variant|MODIFIER|HMGCL|HMGCL|transcript|NM_001166059.1|protein_coding|6/6|c.664-72T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1053;p3_1000G_AF=0.210264;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=23201;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24129126;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:930,81,0
chr1	23808231	rs719400;92602	T	C	2509.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=1.103;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs719400;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|HMGCL|HMGCL|transcript|NM_000191.2|protein_coding|7/9|c.654A>G|p.Leu218Leu|698/1608|654/978|218/325||,C|synonymous_variant|LOW|HMGCL|HMGCL|transcript|NM_001166059.1|protein_coding|5/7|c.441A>G|p.Leu147Leu|485/1395|441/765|147/254||;p3_1000G_AA=C|||;p3_1000G_AC=4444;p3_1000G_AF=0.88738;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=22168;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.9254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24134721;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4234,172;ESP6500_AA_AGE=112.5+/-150.6;ESP6500_AA_GTC=2033,168,2;ESP6500_CDS_SIZES=NM_001166059.1:765,NM_000191.2:978;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=129;ESP6500_EA_AC=7813,787;ESP6500_EA_AGE=187.3+/-234.6;ESP6500_EA_GTC=3545,723,32;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001166059.1:coding-synonymous,NM_000191.2:coding-synonymous;ESP6500_GL=HMGCL;ESP6500_GRCh38_POSITION=1:23808231;ESP6500_GTC=5578,891,34;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001166059.1:c.441A>G,NM_000191.2:c.654A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001166059.1:p.(L147),NM_000191.2:p.(L218);ESP6500_MAF=9.1512,3.9038,7.3735;ESP6500_TAC=12047,959;CLINVAR_ALLELEID=98510;CLINVAR_CLNDISDB=MedGen:C0268601,OMIM:246450,SNOMED_CT:124611007|MedGen:CN169374;CLINVAR_CLNDN=Deficiency_of_hydroxymethylglutaryl-CoA_lyase|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.23808231T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1047;CLINVAR_GENEINFO=HMGCL:3155;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=719400	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2538,219,0
chr1	23817442	rs2076344;255488	A	G	678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.46;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076344;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|HMGCL|HMGCL|transcript|NM_000191.2|protein_coding|3/8|c.252+34T>C||||||,G|intron_variant|MODIFIER|HMGCL|HMGCL|transcript|NM_001166059.1|protein_coding|3/6|c.252+34T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4446;p3_1000G_AF=0.88778;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=20791;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.9264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24143932;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4234,172;ESP6500_AA_AGE=111.6+/-149.8;ESP6500_AA_GTC=2033,168,2;ESP6500_CDS_SIZES=NM_001166059.1:765,NM_000191.2:978;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=46;ESP6500_EA_AC=7816,784;ESP6500_EA_AGE=186.3+/-233.8;ESP6500_EA_GTC=3548,720,32;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001166059.1:intron,NM_000191.2:intron;ESP6500_GL=HMGCL;ESP6500_GRCh38_POSITION=1:23817442;ESP6500_GTC=5581,888,34;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001166059.1:c.252+34T>C,NM_000191.2:c.252+34T>C;ESP6500_MAF=9.1163,3.9038,7.3505;ESP6500_TAC=12050,956;CLINVAR_ALLELEID=249839;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.23817442A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HMGCL:3155;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2076344	GT:AD:DP:GQ:PL	1/1:0,19:19:57:707,57,0
chr1	23825506	rs6697805	C	A	245.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6697805;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|HMGCL|HMGCL|transcript|NM_000191.2|protein_coding||c.-91G>T|||||47|,A|upstream_gene_variant|MODIFIER|HMGCL|HMGCL|transcript|NM_001166059.1|protein_coding||c.-91G>T|||||47|,A|intergenic_region|MODIFIER|HMGCL-FUCA1|HMGCL-FUCA1|intergenic_region|HMGCL-FUCA1|||n.23825506C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1967;p3_1000G_AF=0.392772;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=8840;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.4076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24151996;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:274,21,0
chr1	23854472	rs13551;691	T	C	1368.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13551;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|FUCA1|FUCA1|transcript|NM_000147.4|protein_coding|5/8|c.857A>G|p.Gln286Arg|940/2118|857/1401|286/466||;p3_1000G_AA=t|||;p3_1000G_AC=1058;p3_1000G_AF=0.211262;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=17166;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24180962;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP;ESP6500_AA_AC=643,3763;ESP6500_AA_AGE=276.9+/-273.4;ESP6500_AA_GTC=46,551,1606;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...2517&amp%3Brs...13551|http://www.ncbi.nlm.nih.gov/omim/230000,612280|http://omim.org/entry/612280#0011|http://omim.org/entry/230000#0011;ESP6500_CDS_SIZES=NM_000147.4:1401;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=135;ESP6500_EA_AC=2845,5755;ESP6500_EA_AGE=447.0+/-361.4;ESP6500_EA_GTC=457,1931,1912;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000147.4:missense;ESP6500_GL=FUCA1;ESP6500_GRCh38_POSITION=1:23854472;ESP6500_GS=43;ESP6500_GTC=503,2482,3518;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000147.4:c.857A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000147.4:p.(Q286R);ESP6500_MAF=33.0814,14.5937,26.8184;ESP6500_PH=benign:0.001;ESP6500_TAC=3488,9518;CLINVAR_AF_ESP=0.2682;CLINVAR_AF_EXAC=0.27912;CLINVAR_AF_TGP=0.2113;CLINVAR_ALLELEID=15730;CLINVAR_CLNDISDB=.|MedGen:C0016788,OMIM:230000,Orphanet:ORPHA349,SNOMED_CT:64716005|MedGen:CN517202;CLINVAR_CLNDN=FU1/FU2_POLYMORPHISM|Fucosidosis|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.23854472T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1056|OMIM_Allelic_Variant:612280.0011|UniProtKB_(protein):P04066#VAR_002444;CLINVAR_GENEINFO=FUCA1:2517;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13551	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1397,138,0
chr1	23859951	rs1217825225	C	T	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.452;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.589;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=0.359;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|FUCA1|FUCA1|transcript|NM_000147.4|protein_coding|3/7|c.663-48G>A||||||	GT:AD:DP:GQ:PL	0/1:26,9:35:99:155,0,762
chr1	23865710	rs34902309	A	G	386.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.35;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34902309;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|FUCA1|FUCA1|transcript|NM_000147.4|protein_coding|1/7|c.390-85T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1776;p3_1000G_AF=0.354633;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=22210;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24192200;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:415,33,0
chr1	23901444	rs61778213	C	T	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=1.47;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61778213;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CNR2|CNR2|transcript|NM_001841.2|protein_coding|1/1|c.-46+11802G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=847;p3_1000G_AF=0.169129;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=21110;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.174;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24227934;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:121,0,249
chr1	23901618	rs4649133	G	A	1202.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4649133;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CNR2|CNR2|transcript|NM_001841.2|protein_coding|1/1|c.-46+11628C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4914;p3_1000G_AF=0.98123;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20356;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24228108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1231,111,0
chr1	23901642	rs4649134	G	A	1323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4649134;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CNR2|CNR2|transcript|NM_001841.2|protein_coding|1/1|c.-46+11604C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4915;p3_1000G_AF=0.98143;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20570;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24228132;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1352,119,0
chr1	23948943	rs4369173	A	G	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.11;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147135061;dbSNPBuildID=111;ANN=G|intergenic_region|MODIFIER|MIR378F-PNRC2|MIR378F-PNRC2|intergenic_region|MIR378F-PNRC2|||n.23948943A>G||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:54:109,0,54
chr1	23960737	rs6697024	C	T	820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=4.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs146117441;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding||c.*10405G>A|||||3610|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding||c.*10405G>A|||||3610|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding||c.*7189G>A|||||3610|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding||c.*6926G>A|||||3610|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding||c.*6926G>A|||||3610|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding||c.*7189G>A|||||3610|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding||c.*6926G>A|||||3610|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding||c.*6926G>A|||||3610|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene||n.*3610G>A|||||3610|,T|intron_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding|1/2|c.-224-192C>T||||||	GT:AD:DP:GQ:PL	1/1:0,24:24:72:849,72,0
chr1	23961914	rs3211051	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.212;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.617;MLEAC=1;MLEAF=0.5;MQ=58.18;MQRankSum=-3.882;QD=7.17;ReadPosRankSum=-0.473;SOR=1.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76630293;dbSNPBuildID=105;ANN=G|3_prime_UTR_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding|3/3|c.*37A>G|||||37|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding||c.*9228T>C|||||2433|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding||c.*9228T>C|||||2433|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding||c.*6012T>C|||||2433|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding||c.*5749T>C|||||2433|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding||c.*5749T>C|||||2433|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding||c.*6012T>C|||||2433|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding||c.*5749T>C|||||2433|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding||c.*5749T>C|||||2433|,G|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene||n.*2433T>C|||||2433|	GT:AD:DP:GQ:PL	0/1:19,9:28:99:229,0,538
chr1	23961942	rs7368202	C	T	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.815;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.33;MQRankSum=-3.947;QD=3.39;ReadPosRankSum=0.516;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115735413;dbSNPBuildID=116;ANN=T|3_prime_UTR_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding|3/3|c.*65C>T|||||65|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding||c.*9200G>A|||||2405|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding||c.*9200G>A|||||2405|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding||c.*5984G>A|||||2405|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding||c.*5721G>A|||||2405|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding||c.*5721G>A|||||2405|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding||c.*5984G>A|||||2405|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding||c.*5721G>A|||||2405|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding||c.*5721G>A|||||2405|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene||n.*2405G>A|||||2405|;p3_1000G_AA=c|||;p3_1000G_AC=59;p3_1000G_AF=0.0117812;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs115735413;p3_1000G_DP=14024;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24288432;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,8:30:99:130,0,621
chr1	23961986	rs3211053	T	C	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.69;ReadPosRankSum=0.819;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72540327;dbSNPBuildID=105;ANN=C|3_prime_UTR_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding|3/3|c.*109T>C|||||109|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding||c.*9156A>G|||||2361|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding||c.*9156A>G|||||2361|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding||c.*5940A>G|||||2361|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding||c.*5677A>G|||||2361|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding||c.*5677A>G|||||2361|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding||c.*5940A>G|||||2361|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding||c.*5677A>G|||||2361|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding||c.*5677A>G|||||2361|,C|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene||n.*2361A>G|||||2361|;p3_1000G_AA=T|||;p3_1000G_AC=2654;p3_1000G_AF=0.529952;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs72540327;p3_1000G_DP=10927;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24288476;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6391;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,14:17:35:482,0,35
chr1	23962039	rs142213874	TAAAC	T	316.87	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.91;MQRankSum=1.65;QD=31.69;ReadPosRankSum=-0.674;SOR=1.802;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs142213874;dbSNPBuildID=134;ANN=T|3_prime_UTR_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding|3/3|c.*163_*166delAAAC|||||163|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding||c.*9099_*9102delGTTT|||||2307|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding||c.*9099_*9102delGTTT|||||2307|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding||c.*5883_*5886delGTTT|||||2307|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding||c.*5620_*5623delGTTT|||||2307|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding||c.*5620_*5623delGTTT|||||2307|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding||c.*5883_*5886delGTTT|||||2307|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding||c.*5620_*5623delGTTT|||||2307|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding||c.*5620_*5623delGTTT|||||2307|,T|downstream_gene_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene||n.*2304_*2307delGTTT|||||2307|;p3_1000G_AC=4167;p3_1000G_AF=0.832069;p3_1000G_AFR_AF=0.6536;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=8927;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.9175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24288529;p3_1000G_GRCH37_REF=TAAAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8947;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,9:10:15:354,0,15
chr1	23967759	rs4276860	C	T	664.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs146630384;dbSNPBuildID=111;ANN=T|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding|6/6|c.*3383G>A|||||3383|,T|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding|6/6|c.*3383G>A|||||3383|,T|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding|6/6|c.*167G>A|||||167|,T|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding|6/6|c.*167G>A|||||167|,T|downstream_gene_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding||c.*5882C>T|||||4300|,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding|5/5|c.489-36G>A||||||,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding|4/4|c.438-36G>A||||||,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding|6/6|c.594-36G>A||||||,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding|5/5|c.492-36G>A||||||,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene|6/6|n.1097-36G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4927;p3_1000G_AF=0.983826;p3_1000G_AFR_AF=0.9463;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=2301;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24294249;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:693,66,0
chr1	23967872	rs9424411	A	T	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=-1.612;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145308205;dbSNPBuildID=119;ANN=T|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding|6/6|c.*3270T>A|||||3270|,T|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding|6/6|c.*3270T>A|||||3270|,T|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding|6/6|c.*54T>A|||||54|,T|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding|6/6|c.*54T>A|||||54|,T|downstream_gene_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding||c.*5995A>T|||||4413|,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding|5/5|c.489-149T>A||||||,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding|4/4|c.438-149T>A||||||,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding|6/6|c.594-149T>A||||||,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding|5/5|c.492-149T>A||||||,T|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene|6/6|n.1097-149T>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=33;p3_1000G_AF=0.00658946;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs145308205;p3_1000G_DP=13249;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24294362;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,11:17:99:319,0,110
chr1	23967960	rs150302572;rs878861560;rs878874649	CA	C	192.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.538;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.141;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs150302572;dbSNPBuildID=147,147,134;ANN=C|sequence_feature|MODERATE|SRSF10|SRSF10|modified-residue:phosphoserine|NM_001191006.2|protein_coding|5/5|c.492-5delT||||||,C|splice_region_variant&intron_variant|LOW|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding|5/5|c.492-5delT||||||,C|splice_region_variant&intron_variant|LOW|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding|5/5|c.489-5delT||||||,C|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding|6/6|c.*3181delT|||||3181|,C|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding|6/6|c.*3181delT|||||3181|,C|downstream_gene_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding||c.*6084delA|||||4502|,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding|5/5|c.489-238delT||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding|4/4|c.438-238delT||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding|6/6|c.594-238delT||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding|5/5|c.492-238delT||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene|6/6|n.1097-238delT||||||	GT:AD:DP:GQ:PL	0/1:2,10:12:62:183,0,62
chr1	23968097	rs35233638	G	A	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.803;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.921;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145191744;dbSNPBuildID=126;ANN=A|sequence_feature|MODERATE|SRSF10|SRSF10|modified-residue:phosphoserine|NM_001191006.2|protein_coding|5/5|c.492-141C>T||||||,A|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding|6/6|c.*3045C>T|||||3045|,A|3_prime_UTR_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding|6/6|c.*3045C>T|||||3045|,A|downstream_gene_variant|MODIFIER|PNRC2|PNRC2|transcript|NM_017761.3|protein_coding||c.*6220G>A|||||4638|,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding|5/5|c.492-141C>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding|5/5|c.489-374C>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding|4/4|c.438-374C>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding|5/5|c.489-141C>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding|6/6|c.594-374C>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding|5/5|c.492-374C>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene|6/6|n.1097-374C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2880;p3_1000G_AF=0.57508;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=9186;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24294587;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:95:95,0,179
chr1	23971773	rs3795304	T	C	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=-0.712;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116679590;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding|4/5|c.437+77A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding|4/5|c.437+77A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding|4/5|c.437+77A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding|4/5|c.437+77A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding|4/4|c.437+77A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding|4/5|c.437+77A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding|4/6|c.437+77A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding|4/5|c.437+77A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene|5/6|n.1042+77A>G||||||	GT:AD:DP:GQ:PL	0/1:2,5:7:28:154,0,28
chr1	23975195	rs4649146	C	A	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.319;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.462;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs114213119;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding|2/5|c.173-120G>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding|2/5|c.173-120G>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding|2/5|c.173-120G>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding|2/5|c.173-120G>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding|2/4|c.173-120G>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding|2/5|c.173-120G>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding|2/6|c.173-120G>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding|2/5|c.173-120G>T||||||,A|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene|3/6|n.802-144G>T||||||	GT:AD:DP:GQ:PL	0/1:6,10:16:99:293,0,201
chr1	23975231	rs4649147	T	C	481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.61;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs145233262;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding|2/5|c.173-156A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding|2/5|c.173-156A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding|2/5|c.173-156A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding|2/5|c.173-156A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding|2/4|c.173-156A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding|2/5|c.173-156A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding|2/6|c.173-156A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding|2/5|c.173-156A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene|3/6|n.802-180A>G||||||	GT:AD:DP:GQ:PL	1/1:0,12:12:36:510,36,0
chr1	23978907	rs142675257	T	C	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=1.83;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142675257;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_054016.3|protein_coding|1/5|c.66-90A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191005.2|protein_coding|1/5|c.66-90A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191006.2|protein_coding|1/5|c.66-90A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191007.2|protein_coding|1/5|c.66-90A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001191009.2|protein_coding|1/4|c.66-90A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300936.1|protein_coding|1/5|c.66-90A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_001300937.1|protein_coding|1/6|c.66-90A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NM_006625.5|protein_coding|1/5|c.66-90A>G||||||,C|intron_variant|MODIFIER|SRSF10|SRSF10|transcript|NR_034035.2|pseudogene|1/6|n.274-90A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3227;p3_1000G_AF=0.644369;p3_1000G_AFR_AF=0.593;p3_1000G_AMR_AF=0.7421;p3_1000G_AN=5008;p3_1000G_DP=7869;p3_1000G_EAS_AF=0.6012;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24305397;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,8:25:99:213,0,525
chr1	24057329	rs7540491	T	C	735.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.41;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7540491;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|37/37|c.*35A>G|||||35|;p3_1000G_AA=C|||;p3_1000G_AC=3468;p3_1000G_AF=0.692492;p3_1000G_AFR_AF=0.5303;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=21132;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.7276;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24383819;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2485,1681;ESP6500_AA_GTC=720,1045,318;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=46;ESP6500_EA_AC=6055,2383;ESP6500_EA_GTC=2195,1665,359;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:utr-3;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24057329;ESP6500_GTC=2915,2710,677;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.*35A>G;ESP6500_MAF=28.2413,40.3505,32.2437;ESP6500_TAC=8540,4064	GT:AD:DP:GQ:PL	1/1:0,19:19:57:764,57,0
chr1	24061332	rs7553075	T	A	358.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.11;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.5;SOR=0.929;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7553075;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|33/36|c.3935-23A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1931;p3_1000G_AF=0.385583;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=15948;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.2286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24387822;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1741,2113;ESP6500_AA_GTC=383,975,569;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=36;ESP6500_EA_AC=1793,6469;ESP6500_EA_GTC=197,1399,2535;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:intron;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24061332;ESP6500_GTC=580,2374,3104;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.3935-23A>T;ESP6500_MAF=21.7018,45.1738,29.168;ESP6500_TAC=3534,8582	GT:AD:DP:GQ:PL	0/1:23,14:37:99:387,0,566
chr1	24061881	rs4649168	T	C	737.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=5.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4649168;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|33/36|c.3934+65A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4747;p3_1000G_AF=0.947883;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=18336;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24388371;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:766,54,0
chr1	24061927	rs11811060	A	G	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.78;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.606;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.195;SOR=0.38;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11811060;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|33/36|c.3934+19T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1349;p3_1000G_AF=0.269369;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=20472;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.2038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24388417;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=789,3149;ESP6500_AA_GTC=81,627,1261;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=124;ESP6500_EA_AC=1530,6788;ESP6500_EA_GTC=135,1260,2764;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:intron;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24061927;ESP6500_GTC=216,1887,4025;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.3934+19T>C;ESP6500_MAF=18.3938,20.0356,18.9213;ESP6500_TAC=2319,9937	GT:AD:DP:GQ:PL	0/1:22,20:42:99:581,0,650
chr1	24062189	rs3795303	T	C	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.078;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.32;ReadPosRankSum=0.754;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795303;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|32/36|c.3771-80A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1684;p3_1000G_AF=0.336262;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=20493;p3_1000G_EAS_AF=0.3899;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24388679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:78:78,0,341
chr1	24063019	rs67138023	GAA	G	592.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67138023;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|32/36|c.3770+105_3770+106delTT||||||;p3_1000G_AC=3231;p3_1000G_AF=0.645168;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=17861;p3_1000G_EAS_AF=0.9385;p3_1000G_EUR_AF=0.6819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24389509;p3_1000G_GRCH37_REF=GAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:42:630,42,0
chr1	24064227	rs41268127	G	A	408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.475;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.27;SOR=1.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41268127;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|29/36|c.3535-68C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=752;p3_1000G_AF=0.15016;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=19367;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24390717;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,15:32:99:437,0,596
chr1	24064241	rs7555384	C	T	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.853;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=1.37;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7555384;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|29/36|c.3535-82G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1361;p3_1000G_AF=0.271765;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18982;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.4304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24390731;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,13:24:99:381,0,423
chr1	24067166	rs12026723	G	A	466.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.287;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.467;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12026723;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|27/36|c.3356-78C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1270;p3_1000G_AF=0.253594;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=16455;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.4304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24393656;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,20:38:99:495,0,513
chr1	24067239	rs11249090	G	A	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.239;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.09;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11249090;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|27/36|c.3356-151C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2779;p3_1000G_AF=0.554912;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=16730;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24393729;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:192,0,321
chr1	24072144	rs59491286	G	A	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.377;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-1.383;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59491286;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|23/36|c.2969-131C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=759;p3_1000G_AF=0.151558;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=19214;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24398634;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:130,0,145
chr1	24074094	rs6660949	G	C	680.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6660949;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|23/36|c.2968+66C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4844;p3_1000G_AF=0.967252;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=17538;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24400584;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:709,60,0
chr1	24074143	rs10903083	C	G	1087.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10903083;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|23/36|c.2968+17G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4844;p3_1000G_AF=0.967252;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18117;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24400633;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3805,249;ESP6500_AA_GTC=1791,223,13;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=84;ESP6500_EA_AC=8380,6;ESP6500_EA_GTC=4187,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:intron;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24074143;ESP6500_GTC=5978,229,13;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.2968+17G>C;ESP6500_MAF=0.0715,6.1421,2.0498;ESP6500_TAC=12185,255	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1116,108,0
chr1	24080157	rs4649175	G	A	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.185;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.688;SOR=0.917;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4649175;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|20/37|c.2445C>T|p.Ala815Ala|2608/5800|2445/4314|815/1437||;p3_1000G_AA=G|||;p3_1000G_AC=1774;p3_1000G_AF=0.354233;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=18648;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.4423;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24406647;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2362;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1246,2752;ESP6500_AA_GTC=209,828,962;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=51;ESP6500_EA_AC=3538,4792;ESP6500_EA_GTC=746,2046,1373;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152372.3:coding-synonymous;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24080157;ESP6500_GTC=955,2874,2335;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.2445C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(A815);ESP6500_MAF=42.473,31.1656,38.806;ESP6500_TAC=4784,7544	GT:AD:DP:GQ:PL	0/1:13,10:23:99:266,0,443
chr1	24081525	rs10903090	C	G	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.45;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.649;SOR=0.333;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10903090;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|18/36|c.2281-69G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1837;p3_1000G_AF=0.366813;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=19193;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24408015;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,14:21:99:379,0,157
chr1	24082275	rs4333801	T	C	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.674;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4333801;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|17/36|c.2093-87A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1835;p3_1000G_AF=0.366414;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=18526;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24408765;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:184,0,171
chr1	24082701	rs4320729	C	T	725.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.38;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=2.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.918;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4320729;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|17/37|c.1984G>A|p.Gly662Arg|2147/5800|1984/4314|662/1437||;p3_1000G_AA=C|||;p3_1000G_AC=1286;p3_1000G_AF=0.256789;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=20504;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.4364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24409191;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=335,3707;ESP6500_AA_GTC=19,297,1705;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=5.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=56;ESP6500_EA_AC=3520,4872;ESP6500_EA_GTC=728,2064,1404;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152372.3:missense;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24082701;ESP6500_GS=125;ESP6500_GTC=747,2361,3109;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.1984G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(G662R);ESP6500_MAF=41.9447,8.288,31.0037;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=3855,8579	GT:AD:DP:GQ:PL	0/1:39,31:70:99:754,0,989
chr1	24086669	rs6424152	T	C	631.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.92;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6424152;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|15/37|c.1773A>G|p.Glu591Glu|1936/5800|1773/4314|591/1437||;p3_1000G_AA=C|||;p3_1000G_AC=1877;p3_1000G_AF=0.3748;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=16925;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.4463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24413159;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1365,2533;ESP6500_AA_GTC=253,859,837;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=57;ESP6500_EA_AC=3544,4742;ESP6500_EA_GTC=750,2044,1349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:coding-synonymous;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24086669;ESP6500_GTC=1003,2903,2186;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.1773A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(E591);ESP6500_MAF=42.7709,35.018,40.2905;ESP6500_TAC=4909,7275	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,24:50:99:1|0:24086648_C_T:660,0,692
chr1	24086937	rs6686608	T	G	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.27;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-1.453;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6686608;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|14/36|c.1615-110A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1772;p3_1000G_AF=0.353834;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=17983;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24413427;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:365,0,335
chr1	24089569	rs4393101	T	C	1935.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4393101;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|14/37|c.1583A>G|p.Asp528Gly|1746/5800|1583/4314|528/1437||;p3_1000G_AA=C|||;p3_1000G_AC=4902;p3_1000G_AF=0.978834;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17308;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24416059;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3619,251;ESP6500_AA_GTC=1694,231,10;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=31;ESP6500_EA_AC=8243,3;ESP6500_EA_GTC=4120,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152372.3:missense;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24089569;ESP6500_GS=94;ESP6500_GTC=5814,234,10;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.1583A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(D528G);ESP6500_MAF=0.0364,6.4858,2.0964;ESP6500_PH=benign:0.0;ESP6500_TAC=11862,254	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1964,186,0
chr1	24089580	rs7533060	G	C	727.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.318;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.067;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.371;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7533060;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|14/37|c.1572C>G|p.Pro524Pro|1735/5800|1572/4314|524/1437||;p3_1000G_AA=C|||;p3_1000G_AC=2507;p3_1000G_AF=0.500599;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=17607;p3_1000G_EAS_AF=0.7321;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24416070;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1668,2232;ESP6500_AA_GTC=381,906,663;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=4075,4177;ESP6500_EA_GTC=1011,2053,1062;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:coding-synonymous;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24089580;ESP6500_GTC=1392,2959,1725;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.1572C>G;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(P524);ESP6500_MAF=49.382,42.7692,47.2597;ESP6500_TAC=5743,6409	GT:AD:DP:GQ:PL	0/1:36,30:66:99:756,0,965
chr1	24089643	rs4276859	C	T	835.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.905;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-1.647;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4276859;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|14/37|c.1509G>A|p.Pro503Pro|1672/5800|1509/4314|503/1437||,T|sequence_feature|LOW|MYOM3|MYOM3|domain:Fibronectin_type-III_2|NM_152372.3|protein_coding|14/37|c.1509G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=871;p3_1000G_AF=0.173922;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=18991;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.1143;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24416133;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=619,3447;ESP6500_AA_GTC=51,517,1465;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=38;ESP6500_EA_AC=899,7463;ESP6500_EA_GTC=48,803,3330;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:coding-synonymous;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24089643;ESP6500_GTC=99,1320,4795;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.1509G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(P503);ESP6500_MAF=10.751,15.2238,12.2144;ESP6500_TAC=1518,10910	GT:AD:DP:GQ:PL	0/1:37,37:74:99:864,0,896
chr1	24090138	rs72648548	T	C	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.177;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=-0.792;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72648548;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|12/36|c.1433-20A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=347;p3_1000G_AF=0.0692891;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=19787;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0.0646;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24416628;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=68,3942;ESP6500_AA_GTC=0,68,1937;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=67;ESP6500_EA_AC=585,7753;ESP6500_EA_GTC=23,539,3607;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:intron;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24090138;ESP6500_GTC=23,607,5544;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.1433-20A>G;ESP6500_MAF=7.0161,1.6958,5.2883;ESP6500_TAC=653,11695	GT:AD:DP:GQ:PL	0/1:23,12:35:99:198,0,487
chr1	24092278	rs7556176	T	C	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.232;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=-0.183;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7556176;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|11/37|c.1128A>G|p.Pro376Pro|1291/5800|1128/4314|376/1437||;p3_1000G_AA=C|||;p3_1000G_AC=1884;p3_1000G_AF=0.376198;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=14860;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24418768;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1692,2080;ESP6500_AA_GTC=382,928,576;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=3646,4546;ESP6500_EA_GTC=827,1992,1277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:coding-synonymous;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24092278;ESP6500_GTC=1209,2920,1853;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.1128A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(P376);ESP6500_MAF=44.5068,44.8568,44.6172;ESP6500_TAC=5338,6626	GT:AD:DP:GQ:PL	0/1:15,11:26:99:206,0,394
chr1	24093006	rs4233050	A	G	708.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=5.341;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.072;SOR=0.628;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4233050;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|10/37|c.1031T>C|p.Met344Thr|1194/5800|1031/4314|344/1437||;p3_1000G_AA=A|||;p3_1000G_AC=1898;p3_1000G_AF=0.378994;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=18829;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.496;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24419496;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1736,2212;ESP6500_AA_GTC=389,958,627;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=38;ESP6500_EA_AC=3934,4346;ESP6500_EA_GTC=946,2042,1152;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152372.3:missense;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24093006;ESP6500_GS=81;ESP6500_GTC=1335,3000,1779;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.1031T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(M344T);ESP6500_MAF=47.5121,43.9716,46.369;ESP6500_PH=benign:0.0;ESP6500_TAC=5670,6558	GT:AD:DP:GQ:PL	0/1:29,29:58:99:737,0,670
chr1	24094844	rs6678411	G	T	717.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.193;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=-0.835;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6678411;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|9/36|c.928+9C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1151;p3_1000G_AF=0.229832;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=18784;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.4274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24421334;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=360,3488;ESP6500_AA_GTC=22,316,1586;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-0.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=3372,4916;ESP6500_EA_GTC=685,2002,1457;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:intron;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24094844;ESP6500_GTC=707,2318,3043;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.928+9C>A;ESP6500_MAF=40.6853,9.3555,30.7515;ESP6500_TAC=3732,8404	GT:AD:DP:GQ:PL	0/1:10,28:38:99:746,0,197
chr1	24094984	rs6678540	G	A	443.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.581;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=6.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.925;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6678540;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|9/37|c.797C>T|p.Thr266Met|960/5800|797/4314|266/1437||;p3_1000G_AA=A|||;p3_1000G_AC=1602;p3_1000G_AF=0.319888;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=18851;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.4771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24421474;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1045,2801;ESP6500_AA_GTC=156,733,1034;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=4.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=45;ESP6500_EA_AC=3747,4489;ESP6500_EA_GTC=855,2037,1226;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152372.3:missense;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24094984;ESP6500_GS=81;ESP6500_GTC=1011,2770,2260;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.797C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(T266M);ESP6500_MAF=45.4954,27.1711,39.6623;ESP6500_PH=benign:0.002;ESP6500_TAC=4792,7290	GT:AD:DP:GQ:PL	0/1:15,18:33:99:472,0,350
chr1	24095314	rs11249142	A	G	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.15;ReadPosRankSum=0.778;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11249142;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|8/36|c.790+128T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1142;p3_1000G_AF=0.228035;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=18155;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.4354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24421804;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:69:270,0,69
chr1	24095385	rs11249143	C	T	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.649;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.473;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11249143;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|8/36|c.790+57G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1331;p3_1000G_AF=0.265775;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=17490;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.4354;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24421875;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=250,1134;ESP6500_AA_GTC=24,202,466;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=53;ESP6500_EA_AC=1275,1907;ESP6500_EA_GTC=236,803,552;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:intron;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24095385;ESP6500_GTC=260,1005,1018;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.790+57G>A;ESP6500_MAF=40.0691,18.0636,33.399;ESP6500_TAC=1525,3041	GT:AD:DP:GQ:PL	0/1:9,14:23:99:328,0,236
chr1	24095460	rs4319261	C	G	478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.128;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=4.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.311;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4319261;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|8/37|c.772G>C|p.Asp258His|935/5800|772/4314|258/1437||;p3_1000G_AA=C|||;p3_1000G_AC=2056;p3_1000G_AF=0.410543;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=18793;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24421950;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1877,1889;ESP6500_AA_GTC=489,899,495;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=112;ESP6500_EA_AC=3907,4327;ESP6500_EA_GTC=929,2049,1139;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152372.3:missense;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24095460;ESP6500_GS=81;ESP6500_GTC=1418,2948,1634;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.772G>C;ESP6500_HGVS_PROTEIN_VAR=NM_152372.3:p.(D258H);ESP6500_MAF=47.4496,49.8407,48.2;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=5784,6216	GT:AD:DP:GQ:PL	0/1:19,18:37:99:507,0,540
chr1	24108105	rs11249170	T	C	712.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.94;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11249170;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MYOM3|MYOM3|transcript|NM_152372.3|protein_coding|2/36|c.162-32A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3519;p3_1000G_AF=0.702676;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=18740;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.6153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24434595;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2998,992;ESP6500_AA_GTC=1133,732,130;ESP6500_CDS_SIZES=NM_152372.3:4314;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=28;ESP6500_EA_AC=5211,3105;ESP6500_EA_GTC=1658,1895,605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152372.3:intron;ESP6500_GL=MYOM3;ESP6500_GRCh38_POSITION=1:24108105;ESP6500_GTC=2791,2627,735;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152372.3:c.162-32A>G;ESP6500_MAF=37.3377,24.8622,33.2927;ESP6500_TAC=8209,4097	GT:AD:DP:GQ:PL	1/1:0,21:21:63:741,63,0
chr1	24120724	rs3795300	G	A	624.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795300;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|IL22RA1|IL22RA1|transcript|NM_021258.3|protein_coding|7/7|c.*81C>T|||||81|;p3_1000G_AA=G|||;p3_1000G_AC=3591;p3_1000G_AF=0.717053;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=19240;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24447214;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:653,66,0
chr1	24120978	rs3795299	G	C	1518.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=1.132;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795299;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|IL22RA1|IL22RA1|transcript|NM_021258.3|protein_coding|7/7|c.1552C>G|p.Arg518Gly|1755/2962|1552/1725|518/574||;p3_1000G_AA=G|||;p3_1000G_AC=2335;p3_1000G_AF=0.466254;p3_1000G_AFR_AF=0.2874;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=19250;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24447468;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1339,3067;ESP6500_AA_AGE=446.7+/-348.1;ESP6500_AA_GTC=218,903,1082;ESP6500_CDS_SIZES=NM_021258.3:1725;ESP6500_CG=4.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=75;ESP6500_EA_AC=3507,5093;ESP6500_EA_AGE=511.1+/-377.6;ESP6500_EA_GTC=723,2061,1516;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021258.3:missense;ESP6500_GL=IL22RA1;ESP6500_GRCh38_POSITION=1:24120978;ESP6500_GS=125;ESP6500_GTC=941,2964,2598;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_021258.3:c.1552C>G;ESP6500_HGVS_PROTEIN_VAR=NM_021258.3:p.(R518G);ESP6500_MAF=40.7791,30.3904,37.2597;ESP6500_PH=benign:0.178;ESP6500_TAC=4846,8160	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1547,141,0
chr1	24138623	rs10903022	C	T	1936.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=0.854;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10903022;dbSNPBuildID=120;ANN=T|structural_interaction_variant|HIGH|IL22RA1|IL22RA1|interaction|3DGC:R_23-R_45:NM_021258.3|protein_coding|2/7|c.135G>A||||||,T|synonymous_variant|LOW|IL22RA1|IL22RA1|transcript|NM_021258.3|protein_coding|2/7|c.135G>A|p.Pro45Pro|338/2962|135/1725|45/574||;p3_1000G_AA=C|||;p3_1000G_AC=2357;p3_1000G_AF=0.470647;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=20665;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.3628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24465113;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1200,3206;ESP6500_AA_AGE=418.3+/-338.2;ESP6500_AA_GTC=167,866,1170;ESP6500_CDS_SIZES=NM_021258.3:1725;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=3278,5322;ESP6500_EA_AGE=490.9+/-373.0;ESP6500_EA_GTC=635,2008,1657;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021258.3:coding-synonymous;ESP6500_GL=IL22RA1;ESP6500_GRCh38_POSITION=1:24138623;ESP6500_GTC=802,2874,2827;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021258.3:c.135G>A;ESP6500_HGVS_PROTEIN_VAR=NM_021258.3:p.(P45);ESP6500_MAF=38.1163,27.2356,34.4303;ESP6500_TAC=4478,8528	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1965,195,0
chr1	24157951	rs946671	A	G	534.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs946671;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_170743.3|protein_coding|6/6|c.802-60T>C||||||,G|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173064.2|protein_coding|6/6|c.802-147T>C||||||,G|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173065.2|protein_coding|5/5|c.671-60T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=21348;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24484441;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1379,5;ESP6500_AA_GTC=687,5,0;ESP6500_CDS_SIZES=NM_173065.2:735,NM_173064.2:1476,NM_170743.3:1563;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=15;ESP6500_EA_AC=3178,4;ESP6500_EA_GTC=1587,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173065.2:intron,NM_173064.2:intron,NM_170743.3:intron;ESP6500_GL=IL28RA;ESP6500_GRCh38_POSITION=1:24157951;ESP6500_GTC=2274,9,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173065.2:c.671-60T>C,NM_173064.2:c.802-147T>C,NM_170743.3:c.802-60T>C;ESP6500_MAF=0.1257,0.3613,0.1971;ESP6500_TAC=4557,9	GT:AD:DP:GQ:PL	1/1:0,14:14:42:563,42,0
chr1	24159028	rs10751769	T	C	1324.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10751769;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_170743.3|protein_coding|6/6|c.801+24A>G||||||,C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173064.2|protein_coding|6/6|c.801+24A>G||||||,C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173065.2|protein_coding|5/5|c.670+446A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4987;p3_1000G_AF=0.995807;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15725;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24485518;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4384,22;ESP6500_AA_AGE=29.0+/-57.7;ESP6500_AA_GTC=2181,22,0;ESP6500_CDS_SIZES=NM_173065.2:735,NM_173064.2:1476,NM_170743.3:1563;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=70;ESP6500_EA_AC=8585,15;ESP6500_EA_AGE=11.2+/-40.8;ESP6500_EA_GTC=4285,15,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173065.2:intron,NM_173064.2:intron,NM_170743.3:intron;ESP6500_GL=IL28RA;ESP6500_GRCh38_POSITION=1:24159028;ESP6500_GTC=6466,37,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173065.2:c.670+446A>G,NM_173064.2:c.801+24A>G,NM_170743.3:c.801+24A>G;ESP6500_MAF=0.1744,0.4993,0.2845;ESP6500_TAC=12969,37	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1353,120,0
chr1	24159323	rs4649194	T	C	1269.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=1.788;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4649194;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_170743.3|protein_coding|5/6|c.671-141A>G||||||,C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173064.2|protein_coding|5/6|c.671-141A>G||||||,C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173065.2|protein_coding|5/5|c.670+151A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=21550;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24485813;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1298,120,0
chr1	24159451	rs4649195	T	C	1497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4649195;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_170743.3|protein_coding|5/6|c.670+23A>G||||||,C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173064.2|protein_coding|5/6|c.670+23A>G||||||,C|intron_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173065.2|protein_coding|5/5|c.670+23A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2971;p3_1000G_AF=0.593251;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=18409;p3_1000G_EAS_AF=0.5069;p3_1000G_EUR_AF=0.7157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24485941;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7086;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2112,2294;ESP6500_AA_AGE=569.1+/-382.5;ESP6500_AA_GTC=507,1098,598;ESP6500_CDS_SIZES=NM_173065.2:735,NM_173064.2:1476,NM_170743.3:1563;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=69;ESP6500_EA_AC=5962,2638;ESP6500_EA_AGE=682.9+/-403.8;ESP6500_EA_GTC=2069,1824,407;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173065.2:intron,NM_173064.2:intron,NM_170743.3:intron;ESP6500_GL=IL28RA;ESP6500_GRCh38_POSITION=1:24159451;ESP6500_GTC=2576,2922,1005;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173065.2:c.670+23A>G,NM_173064.2:c.670+23A>G,NM_170743.3:c.670+23A>G;ESP6500_MAF=30.6744,47.9346,37.921;ESP6500_TAC=8074,4932	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1526,138,0
chr1	24187278	rs4090311	G	A	51.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.189;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.385;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4090311;dbSNPBuildID=108;ANN=A|upstream_gene_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_170743.3|protein_coding||c.-30C>T|||||3|,A|upstream_gene_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173064.2|protein_coding||c.-30C>T|||||3|,A|upstream_gene_variant|MODIFIER|IFNLR1|IFNLR1|transcript|NM_173065.2|protein_coding||c.-30C>T|||||3|,A|intergenic_region|MODIFIER|IFNLR1-LOC284632|IFNLR1-LOC284632|intergenic_region|IFNLR1-LOC284632|||n.24187278G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4199;p3_1000G_AF=0.838458;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=8037;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.8539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24513768;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8793;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1441,61;ESP6500_AA_GTC=690,61,0;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=1;ESP6500_EA_AC=3409,247;ESP6500_EA_GTC=1582,245,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:24187278;ESP6500_GTC=2272,306,1;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=6.756,4.0613,5.9713;ESP6500_TAC=4850,308	GT:AD:DP:GQ:PL	0/1:3,3:6:72:80,0,72
chr1	24331370	rs2486669	A	G	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.494;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2486669;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GRHL3|GRHL3|transcript|NM_198174.2|protein_coding|1/15|c.18-56A>G||||||,G|intron_variant|MODIFIER|GRHL3|GRHL3|transcript|NM_198173.2|protein_coding|1/15|c.18-56A>G||||||,G|intron_variant|MODIFIER|GRHL3|GRHL3|transcript|NM_001195010.1|protein_coding|1/15|c.-121-56A>G||||||,G|intron_variant|MODIFIER|GRHL3|GRHL3|transcript|NM_021180.3|protein_coding|1/15|c.33-56A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1053;p3_1000G_AF=0.210264;p3_1000G_AFR_AF=0.3434;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=20679;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24657860;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:159,0,155
chr1	24331573	rs2486668	C	G	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.327;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.489;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.56;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2486668;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|GRHL3|GRHL3|transcript|NM_198174.2|protein_coding|2/16|c.165C>G|p.Asp55Glu|395/2220|165/1881|55/626||,G|missense_variant|MODERATE|GRHL3|GRHL3|transcript|NM_198173.2|protein_coding|2/16|c.165C>G|p.Asp55Glu|395/2869|165/1809|55/602||,G|missense_variant|MODERATE|GRHL3|GRHL3|transcript|NM_001195010.1|protein_coding|2/16|c.27C>G|p.Asp9Glu|330/2804|27/1671|9/556||,G|missense_variant|MODERATE|GRHL3|GRHL3|transcript|NM_021180.3|protein_coding|2/16|c.180C>G|p.Asp60Glu|226/2700|180/1824|60/607||;p3_1000G_AA=C|||;p3_1000G_AC=894;p3_1000G_AF=0.178514;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=21488;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.164;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24658063;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=911,3495;ESP6500_AA_AGE=350.5+/-310.9;ESP6500_AA_GTC=79,753,1371;ESP6500_CDS_SIZES=NM_198174.2:1881,NM_198173.2:1809,NM_021180.3:1824,NM_001195010.1:1671;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=199;ESP6500_EA_AC=1414,7186;ESP6500_EA_AGE=272.2+/-289.9;ESP6500_EA_GTC=121,1172,3007;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198174.2:missense,NM_198173.2:missense,NM_021180.3:missense,NM_001195010.1:missense;ESP6500_GL=GRHL3;ESP6500_GRCh38_POSITION=1:24331573;ESP6500_GS=45,45,45,45;ESP6500_GTC=200,1925,4378;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_198174.2:c.165C>G,NM_198173.2:c.165C>G,NM_021180.3:c.180C>G,NM_001195010.1:c.27C>G;ESP6500_HGVS_PROTEIN_VAR=NM_198174.2:p.(D55E),NM_198173.2:p.(D55E),NM_021180.3:p.(D60E),NM_001195010.1:p.(D9E);ESP6500_MAF=16.4419,20.6764,17.8764;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=2325,10681	GT:AD:DP:GQ:PL	0/1:18,13:31:99:350,0,574
chr1	24342177	rs11576645	C	G	1971.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11576645;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|GRHL3|GRHL3|transcript|NM_198174.2|protein_coding|9/16|c.1110C>G|p.Val370Val|1340/2220|1110/1881|370/626||,G|synonymous_variant|LOW|GRHL3|GRHL3|transcript|NM_198173.2|protein_coding|9/16|c.1110C>G|p.Val370Val|1340/2869|1110/1809|370/602||,G|synonymous_variant|LOW|GRHL3|GRHL3|transcript|NM_001195010.1|protein_coding|9/16|c.972C>G|p.Val324Val|1275/2804|972/1671|324/556||,G|synonymous_variant|LOW|GRHL3|GRHL3|transcript|NM_021180.3|protein_coding|9/16|c.1125C>G|p.Val375Val|1171/2700|1125/1824|375/607||;p3_1000G_AA=C|||;p3_1000G_AC=790;p3_1000G_AF=0.157748;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=20035;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.2068;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24668667;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=424,3982;ESP6500_AA_AGE=206.5+/-228.1;ESP6500_AA_GTC=21,382,1800;ESP6500_CDS_SIZES=NM_198174.2:1881,NM_198173.2:1809,NM_021180.3:1824,NM_001195010.1:1671;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=106;ESP6500_EA_AC=1942,6658;ESP6500_EA_AGE=342.3+/-324.4;ESP6500_EA_GTC=219,1504,2577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198174.2:coding-synonymous,NM_198173.2:coding-synonymous,NM_021180.3:coding-synonymous,NM_001195010.1:coding-synonymous;ESP6500_GL=GRHL3;ESP6500_GRCh38_POSITION=1:24342177;ESP6500_GTC=240,1886,4377;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_198174.2:c.1110C>G,NM_198173.2:c.1110C>G,NM_021180.3:c.1125C>G,NM_001195010.1:c.972C>G;ESP6500_HGVS_PROTEIN_VAR=NM_198174.2:p.(V370),NM_198173.2:p.(V370),NM_021180.3:p.(V375),NM_001195010.1:p.(V324);ESP6500_MAF=22.5814,9.6232,18.1916;ESP6500_TAC=2366,10640	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2000,180,0
chr1	24531167	rs374808456	CT	C	57.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.704;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.166;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=-0.246;SOR=0.069;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs374808456;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251977.1|protein_coding|2/4|c.196-39delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251979.1|protein_coding|2/4|c.196-39delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251984.1|protein_coding|1/3|c.-180-39delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251981.1|protein_coding|2/3|c.196-1904delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251983.1|protein_coding|1/3|c.-180-39delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_013441.3|protein_coding|2/4|c.196-39delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251978.1|protein_coding|2/4|c.196-39delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251980.1|protein_coding|1/3|c.196-39delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251982.1|protein_coding|1/2|c.196-39delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCAN3|RCAN3|transcript|NM_001251985.1|protein_coding|1/1|c.196-3914delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,5:15:95:95,0,225
chr1	24601070	rs4553122	T	C	957.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.21;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4553122;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NCMAP|NCMAP|transcript|NM_001010980.4|protein_coding|3/3|c.167+46T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2764;p3_1000G_AF=0.551917;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=20424;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.5586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24927561;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2320,2086;ESP6500_AA_AGE=571.7+/-383.1;ESP6500_AA_GTC=615,1090,498;ESP6500_CDS_SIZES=NM_001010980.4:309;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=94;ESP6500_EA_AC=4742,3858;ESP6500_EA_AGE=541.8+/-384.1;ESP6500_EA_GTC=1313,2116,871;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010980.4:intron;ESP6500_GL=NCMAP;ESP6500_GRCh38_POSITION=1:24601070;ESP6500_GTC=1928,3206,1369;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001010980.4:c.167+46T>C;ESP6500_MAF=44.8605,47.3445,45.702;ESP6500_TAC=7062,5944	GT:AD:DP:GQ:PL	1/1:0,28:28:84:986,84,0
chr1	24652401	rs60568839;rs752672976	CA	C	34.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.366;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.86;ReadPosRankSum=0.231;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs60568839;dbSNPBuildID=144,129;ANN=C|sequence_feature|MODERATE|SRRM1|SRRM1|modified-residue:phosphoserine|NM_005839.3|protein_coding|6/16|c.726-32delA||||||,C|intron_variant|MODIFIER|SRRM1|SRRM1|transcript|NM_001303448.1|protein_coding|6/17|c.726-17delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SRRM1|SRRM1|transcript|NM_005839.3|protein_coding|6/16|c.726-17delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SRRM1|SRRM1|transcript|NM_001303449.1|protein_coding|6/17|c.609-17delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:5,4:9:67:72,0,67
chr1	24663271	rs4649011	G	T	1224.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=1.005;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4649011;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SRRM1|SRRM1|transcript|NM_001303448.1|protein_coding|13/17|c.1664+47G>T||||||,T|intron_variant|MODIFIER|SRRM1|SRRM1|transcript|NM_005839.3|protein_coding|12/16|c.1628+467G>T||||||,T|intron_variant|MODIFIER|SRRM1|SRRM1|transcript|NM_001303449.1|protein_coding|13/17|c.1547+47G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4960;p3_1000G_AF=0.990415;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=17587;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24989762;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1253,126,0
chr1	24827201	rs4649022	G	A	1697.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4649022;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CLIC4|CLIC4|transcript|NM_013943.2|protein_coding|4/5|c.415+85G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4886;p3_1000G_AF=0.975639;p3_1000G_AFR_AF=0.9145;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=19038;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25153692;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1726,156,0
chr1	24907571	rs34878696	T	G	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=6.008;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.464;SOR=2.621;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34878696;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_001031680.2|protein_coding|4/5|c.587-154A>C||||||,G|intron_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_004350.2|protein_coding|3/4|c.545-154A>C||||||,G|intron_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_001320672.1|protein_coding|5/6|c.587-154A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2475;p3_1000G_AF=0.494209;p3_1000G_AFR_AF=0.7549;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=21543;p3_1000G_EAS_AF=0.3472;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25234062;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:99:125,0,269
chr1	24919401	rs564419971	C	T	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.437;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-1.559;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_001031680.2|protein_coding|3/5|c.482-57G>A||||||,T|intron_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_004350.2|protein_coding|2/4|c.440-57G>A||||||,T|intron_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_001320672.1|protein_coding|4/6|c.482-57G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|MIR6731|MIR6731|transcript|NR_106789.1|pseudogene|1/1|n.16G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15985;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25245892;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:141,0,140
chr1	24929953	rs71514255	G	A	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71514255;dbSNPBuildID=130;ANN=A|5_prime_UTR_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_004350.2|protein_coding|1/5|c.-85C>T|||||85|,A|intron_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_001031680.2|protein_coding|1/5|c.59-101C>T||||||,A|intron_variant|MODIFIER|RUNX3|RUNX3|transcript|NM_001320672.1|protein_coding|2/6|c.59-101C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2346;p3_1000G_AF=0.46845;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=4361;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25256444;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:71:71,0,71
chr1	24964519	rs6672420	A	T	1934.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=0.934;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6672420;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|RUNX3|RUNX3|transcript|NM_001031680.2|protein_coding|1/6|c.53T>A|p.Ile18Asn|492/4340|53/1290|18/429||,T|missense_variant|MODERATE|RUNX3|RUNX3|transcript|NM_001320672.1|protein_coding|2/7|c.53T>A|p.Ile18Asn|325/4173|53/1290|18/429||;p3_1000G_AA=A|||;p3_1000G_AC=2893;p3_1000G_AF=0.577676;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=14514;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.5209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25291010;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1866,2538;ESP6500_AA_AGE=520.2+/-370.2;ESP6500_AA_GTC=408,1050,744;ESP6500_CDS_SIZES=NM_001031680.2:1290;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=4162,4438;ESP6500_EA_AGE=543.7+/-384.4;ESP6500_EA_GTC=1032,2098,1170;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001031680.2:missense;ESP6500_GL=RUNX3;ESP6500_GRCh38_POSITION=1:24964519;ESP6500_GS=149;ESP6500_GTC=1440,3148,1914;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001031680.2:c.53T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001031680.2:p.(I18N);ESP6500_MAF=48.3953,42.3706,46.355;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=6028,6976	GT:AD:DP:GQ:PL	1/1:0,72:72:99:1963,212,0
chr1	25244059	rs398073842;rs5773124	A	AT	201.7	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.467;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=7.404;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-0.635;SOR=3.229;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5773124;dbSNPBuildID=131,138;ANN=AT|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NM_001321772.1|protein_coding|3/4|c.673-427dupA||||||,AT|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NM_020317.4|protein_coding|3/4|c.673-427dupA||||||,AT|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135780.1|pseudogene|3/4|n.1918+121dupA||||||,AT|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135782.1|pseudogene|4/5|n.1267+121dupA||||||,AT|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135783.1|pseudogene|4/5|n.994+394dupA||||||,AT|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135785.1|pseudogene|4/5|n.993+121dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135143.1|pseudogene|3/4|n.2039dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135144.1|pseudogene|4/5|n.1114dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135778.1|pseudogene|4/5|n.1388dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135781.1|pseudogene|5/6|n.1159dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135784.1|pseudogene|3/5|n.2039dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135786.1|pseudogene|3/5|n.2039dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135777.1|pseudogene|3/4|n.2014dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135787.1|pseudogene|5/6|n.2163dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135788.1|pseudogene|3/4|n.2105dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135789.1|pseudogene|3/4|n.3043dupA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4550;p3_1000G_AF=0.908546;p3_1000G_AFR_AF=0.8752;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=16782;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.9215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25570550;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,10:11:6:238,6,0
chr1	25284544	rs2301153	G	C	2146.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.15;QD=32.53;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2301153;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NM_001321772.1|protein_coding|1/4|c.-66-37515C>G||||||,C|intron_variant|MODIFIER|RHD|RHD|transcript|NM_001282871.1|protein_coding|1/8|c.149-29G>C||||||,C|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135787.1|pseudogene|1/5|n.1216-37515C>G||||||,C|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135788.1|pseudogene|1/3|n.278-37515C>G||||||,C|intron_variant|MODIFIER|RSRP1|RSRP1|transcript|NR_135789.1|pseudogene|1/3|n.1216-37515C>G||||||,C|intron_variant|MODIFIER|RHD|RHD|transcript|NM_001127691.2|protein_coding|1/6|c.149-29G>C||||||,C|intron_variant|MODIFIER|RHD|RHD|transcript|NM_001282867.1|protein_coding|1/9|c.-346-29G>C||||||,C|intron_variant|MODIFIER|RHD|RHD|transcript|NM_001282868.1|protein_coding|1/7|c.149-29G>C||||||,C|intron_variant|MODIFIER|RHD|RHD|transcript|NM_001282869.1|protein_coding|1/7|c.149-29G>C||||||,C|intron_variant|MODIFIER|RHD|RHD|transcript|NM_001282870.1|protein_coding|1/8|c.149-29G>C||||||,C|intron_variant|MODIFIER|RHD|RHD|transcript|NM_001282872.1|protein_coding|1/9|c.149-29G>C||||||,C|intron_variant|MODIFIER|RHD|RHD|transcript|NM_016124.4|protein_coding|1/9|c.149-29G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3117;p3_1000G_AF=0.622404;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=24440;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.7644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25611035;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1007,3241;ESP6500_AA_GTC=237,533,1354;ESP6500_CDS_SIZES=NM_016124.3:1254,NM_001127691.1:966;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=5540,1856;ESP6500_EA_GTC=2463,614,621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016124.3:intron,NM_001127691.1:intron;ESP6500_GL=RHD;ESP6500_GRCh38_POSITION=1:25284544;ESP6500_GTC=2700,1147,1975;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_016124.3:c.149-29G>C,NM_001127691.1:c.149-29G>C;ESP6500_MAF=25.0946,23.7053,43.7736;ESP6500_TAC=6547,5097	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2175,198,0
chr1	25351511	rs528939821;rs536204939;rs66744254	TA	T	227.0	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.74;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.942;SOR=1.473;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66744254;dbSNPBuildID=130,142,142;ANN=T|intron_variant|MODIFIER|TMEM50A|TMEM50A|transcript|NM_014313.3|protein_coding|3/6|c.207-101delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,12:13:12:264,12,0
chr1	25351747	rs3093616	T	A	908.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3093616;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|TMEM50A|TMEM50A|transcript|NM_014313.3|protein_coding|4/6|c.274+54T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4671;p3_1000G_AF=0.932708;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=18535;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25678238;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1121,263;ESP6500_AA_GTC=454,213,25;ESP6500_CDS_SIZES=NM_014313.3:474;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=124;ESP6500_EA_AC=3177,5;ESP6500_EA_GTC=1586,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014313.3:intron;ESP6500_GL=TMEM50A;ESP6500_GRCh38_POSITION=1:25351747;ESP6500_GTC=2040,218,25;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_014313.3:c.274+54T>A;ESP6500_MAF=0.1571,19.0029,5.8695;ESP6500_TAC=4298,268	GT:AD:DP:GQ:PL	1/1:0,29:29:87:937,87,0
chr1	25420739	rs586178;39358	G	C	35.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.28;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=6.16;MLEAC=1;MLEAF=0.5;MQ=47;MQRankSum=-2.556;QD=1.79;ReadPosRankSum=0.56;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs586178;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|RHCE|RHCE|transcript|NM_020485.4|protein_coding|1/10|c.48C>G|p.Cys16Trp|134/1618|48/1254|16/417||,C|missense_variant|MODERATE|RHCE|RHCE|transcript|NM_138616.3|protein_coding|1/7|c.48C>G|p.Cys16Trp|134/1165|48/801|16/266||,C|missense_variant|MODERATE|RHCE|RHCE|transcript|NM_138617.3|protein_coding|1/7|c.48C>G|p.Cys16Trp|134/1223|48/804|16/267||,C|missense_variant|MODERATE|RHCE|RHCE|transcript|NM_138618.3|protein_coding|1/9|c.48C>G|p.Cys16Trp|134/1484|48/1065|16/354||;p3_1000G_AA=G|||;p3_1000G_AC=1998;p3_1000G_AF=0.398962;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=14410;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.5268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25747230;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.39817;CLINVAR_AF_TGP=0.3990;CLINVAR_ALLELEID=32748;CLINVAR_CLNDNINCL=RH_C/c_POLYMORPHISM;CLINVAR_CLNHGVS=NC_000001.11:g.25420739G>C;CLINVAR_CLNREVSTAT=no_interpretation_for_the_single_variant;CLINVAR_CLNSIGINCL=17709:Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:111700.0002;CLINVAR_GENEINFO=RHCE:6006;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=586178;CLINVAR_SSR=1	GT:AD:DP:GQ:PL	0/1:17,3:20:64:64,0,449
chr1	25454177	rs34006994	C	T	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.162;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.755;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34006994;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|TMEM57|TMEM57|transcript|NM_018202.5|protein_coding|3/10|c.350-82C>T||||||,T|intron_variant|MODIFIER|TMEM57|TMEM57|transcript|NM_001282564.1|protein_coding|3/8|c.350-82C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2486;p3_1000G_AF=0.496406;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=12842;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.4523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25780668;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:240,0,168
chr1	25454398	rs141203814;rs746872933	A	ATG	227.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141203814;dbSNPBuildID=134,144;ANN=ATG|intron_variant|MODIFIER|TMEM57|TMEM57|transcript|NM_018202.5|protein_coding|4/10|c.473+18_473+19dupGT||||||INFO_REALIGN_3_PRIME,ATG|intron_variant|MODIFIER|TMEM57|TMEM57|transcript|NM_001282564.1|protein_coding|4/8|c.473+18_473+19dupGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:25454398_A_ATG:265,18,0
chr1	25454402	rs61775167	A	G	236.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.65;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61775167;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|TMEM57|TMEM57|transcript|NM_018202.5|protein_coding|4/10|c.473+20A>G||||||,G|intron_variant|MODIFIER|TMEM57|TMEM57|transcript|NM_001282564.1|protein_coding|4/8|c.473+20A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2496;p3_1000G_AF=0.498403;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=10716;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.4533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25780893;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:25454398_A_ATG:265,18,0
chr1	25458960	rs35530120	A	G	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.643;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-2.67;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35530120;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|TMEM57|TMEM57|transcript|NM_018202.5|protein_coding|6/10|c.1154+68A>G||||||,G|intron_variant|MODIFIER|TMEM57|TMEM57|transcript|NM_001282564.1|protein_coding|4/8|c.473+4578A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2490;p3_1000G_AF=0.497204;p3_1000G_AFR_AF=0.18;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=23361;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.4523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25785451;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:214,0,147
chr1	25553770	rs34367689;rs754388280	CA	C	260.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.769;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.13;ReadPosRankSum=0.347;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34367689;dbSNPBuildID=144,126;ANN=C|intron_variant|MODIFIER|LDLRAP1|LDLRAP1|transcript|NM_015627.2|protein_coding|1/8|c.89-133delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,6:7:30:196,30,0
chr1	25566730	rs4523506	G	T	529.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4523506;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|LDLRAP1|LDLRAP1|transcript|NM_015627.2|protein_coding|8/8|c.783-118G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2852;p3_1000G_AF=0.569489;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=15112;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.4722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25893221;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:558,48,0
chr1	25566751	rs4418583	T	C	684.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.35;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4418583;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|LDLRAP1|LDLRAP1|transcript|NM_015627.2|protein_coding|8/8|c.783-97T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2945;p3_1000G_AF=0.588059;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=14705;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25893242;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:48:1|1:25566751_T_C:713,48,0
chr1	25566752	rs4603124	G	A	684.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4603124;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|LDLRAP1|LDLRAP1|transcript|NM_015627.2|protein_coding|8/8|c.783-96G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2085;p3_1000G_AF=0.416334;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=14713;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.4692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25893243;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:25566751_T_C:713,48,0
chr1	25758557	rs11321223;rs397771765;rs398073844	AG	A	884.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=2.91;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11321223;dbSNPBuildID=132,138,138;ANN=A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|5/11|c.930-29delG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|5/11|c.930-29delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGG|GGGGGG|GGGGG|insertion;p3_1000G_AC=4557;p3_1000G_AF=0.909944;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=16817;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26085048;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,29:29:87:922,87,0
chr1	25763581	rs807270	A	G	417.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs807270;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|6/11|c.1048-293A>G||||||,G|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|6/11|c.1048-293A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4558;p3_1000G_AF=0.910144;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=18258;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26090072;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:446,39,0
chr1	25771616	rs2072747	G	A	612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2072747;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|7/11|c.1142-41G>A||||||,A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|7/11|c.1142-41G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3000;p3_1000G_AF=0.599042;p3_1000G_AFR_AF=0.3759;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=18150;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26098107;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1773,2631;ESP6500_AA_AGE=523.6+/-371.1;ESP6500_AA_GTC=364,1045,793;ESP6500_CDS_SIZES=NM_020379.2:1893;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=46;ESP6500_EA_AC=5544,3056;ESP6500_EA_AGE=658.2+/-401.5;ESP6500_EA_GTC=1839,1866,595;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020379.2:intron;ESP6500_GL=MAN1C1;ESP6500_GRCh38_POSITION=1:25771616;ESP6500_GTC=2203,2911,1388;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020379.2:c.1142-41G>A;ESP6500_MAF=35.5349,40.2589,43.7327;ESP6500_TAC=7317,5687	GT:AD:DP:GQ:PL	1/1:0,20:20:60:641,60,0
chr1	25771842	rs807264	G	A	525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs807264;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|8/11|c.1257+70G>A||||||,A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|8/11|c.1257+70G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4431;p3_1000G_AF=0.884784;p3_1000G_AFR_AF=0.8707;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=16121;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26098333;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:554,51,0
chr1	25780830	rs807274	A	C	510.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs807274;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|9/11|c.1478-110A>C||||||,C|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|9/11|c.1478-110A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4551;p3_1000G_AF=0.908746;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=17780;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26107321;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:539,42,0
chr1	25781197	rs807273	C	A	1899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs807273;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|10/11|c.1650+85C>A||||||,A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|10/11|c.1650+85C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4360;p3_1000G_AF=0.870607;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=18573;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26107688;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.864;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1928,183,0
chr1	25782746	rs12567324	A	G	1204.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=2.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12567324;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|11/11|c.1766+46A>G||||||,G|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|11/11|c.1766+46A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3173;p3_1000G_AF=0.633586;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=18689;p3_1000G_EAS_AF=0.7302;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26109237;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7198;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2345,2059;ESP6500_AA_GTC=621,1103,478;ESP6500_CDS_SIZES=NM_020379.2:1893;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=61;ESP6500_EA_AC=5391,3209;ESP6500_EA_GTC=1762,1867,671;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020379.2:intron;ESP6500_GL=MAN1C1;ESP6500_GRCh38_POSITION=1:25782746;ESP6500_GTC=2383,2970,1149;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020379.2:c.1766+46A>G;ESP6500_MAF=37.314,46.753,40.5106;ESP6500_TAC=7736,5268	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1233,96,0
chr1	25783574	rs3820514	A	G	1244.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820514;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|11/11|c.1767-89A>G||||||,G|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|11/11|c.1767-270A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2919;p3_1000G_AF=0.582867;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=18055;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.6431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26110065;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1273,90,0
chr1	25783652	rs3767877	G	A	2145.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.852;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3767877;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_020379.3|protein_coding|11/11|c.1767-11G>A||||||,A|intron_variant|MODIFIER|MAN1C1|MAN1C1|transcript|NM_001289010.1|protein_coding|11/11|c.1767-192G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3216;p3_1000G_AF=0.642173;p3_1000G_AFR_AF=0.5477;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=18450;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.6431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26110143;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2443,1963;ESP6500_AA_AGE=553.7+/-378.8;ESP6500_AA_GTC=676,1091,436;ESP6500_CDS_SIZES=NM_020379.2:1893;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=81;ESP6500_EA_AC=5432,3168;ESP6500_EA_AGE=481.1+/-370.6;ESP6500_EA_GTC=1765,1902,633;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020379.2:intron;ESP6500_GL=MAN1C1;ESP6500_GRCh38_POSITION=1:25783652;ESP6500_GTC=2441,2993,1069;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020379.2:c.1767-11G>A;ESP6500_MAF=36.8372,44.5529,39.451;ESP6500_TAC=7875,5131	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2174,213,0
chr1	25800934	rs6659086	G	A	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.649;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.92;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6659086;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|1/12|c.184-109G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|1/11|c.184-109G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3453;p3_1000G_AF=0.689497;p3_1000G_AFR_AF=0.7927;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=15423;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26127425;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:217,0,326
chr1	25801816	rs10902683	C	T	1785.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.04;SOR=3.788;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10902683;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|2/12|c.302-200C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|2/11|c.301+656C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4628;p3_1000G_AF=0.924121;p3_1000G_AFR_AF=0.9909;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=16504;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26128307;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1814,153,0
chr1	25801993	rs746918551	CT	C	330.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.94;ReadPosRankSum=0.55;SOR=0.719;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|splice_region_variant&intron_variant|LOW|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|2/12|c.302-8delT||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|2/11|c.301+848delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:61,23:84:99:368,0,1266
chr1	25805163	rs7349185;95963	G	A	839.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7349185;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|4/13|c.425G>A|p.Cys142Tyr|480/4332|425/1773|142/590||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|3/12|c.323G>A|p.Cys108Tyr|378/4230|323/1671|108/556||;p3_1000G_AA=A|||;p3_1000G_AC=4216;p3_1000G_AF=0.841853;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=17251;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.7803;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26131654;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP;CLINVAR_ALLELEID=101859;CLINVAR_CLNDISDB=MedGen:C0410180,OMIM:602771,SNOMED_CT:240063002|MedGen:CN169374|MedGen:CN239420;CLINVAR_CLNDN=Eichsfeld_type_congenital_muscular_dystrophy|not_specified|SEPN1-Related_Disorders;CLINVAR_CLNHGVS=NC_000001.11:g.25805163G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:559641|UniProtKB_(protein):Q9NZV5#VAR_038846;CLINVAR_GENEINFO=SELENON:57190;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7349185	GT:AD:DP:GQ:PL	1/1:0,27:27:81:868,81,0
chr1	25809250	rs2280997	C	G	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.583;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.178;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280997;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|6/12|c.872+100C>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|5/11|c.770+100C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=893;p3_1000G_AF=0.178315;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=16121;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26135741;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,15:30:99:388,0,476
chr1	25811645	rs760598;261271	C	A	1987.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=1.057;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs760598;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|8/12|c.1093-46C>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|7/11|c.991-46C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3741;p3_1000G_AF=0.747005;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=16942;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26138136;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8988;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1906,1930;ESP6500_AA_GTC=498,910,510;ESP6500_CDS_SIZES=NM_206926.1:1671,NM_020451.2:1773;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=24;ESP6500_EA_AC=6376,1882;ESP6500_EA_GTC=2452,1472,205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206926.1:intron,NM_020451.2:intron;ESP6500_GL=SEPN1;ESP6500_GRCh38_POSITION=1:25811645;ESP6500_GTC=2950,2382,715;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_206926.1:c.991-46C>A,NM_020451.2:c.1093-46C>A;ESP6500_MAF=22.79,49.6872,31.5198;ESP6500_TAC=8282,3812;CLINVAR_ALLELEID=249869;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.25811645C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SELENON:57190;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=760598	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2016,186,0
chr1	25811771	rs760597;95956	T	C	2343.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=0.917;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs760597;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|9/13|c.1173T>C|p.Pro391Pro|1228/4332|1173/1773|391/590||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|synonymous_variant|LOW|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|8/12|c.1071T>C|p.Pro357Pro|1126/4230|1071/1671|357/556||;p3_1000G_AA=C|||;p3_1000G_AC=3966;p3_1000G_AF=0.791933;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=18488;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26138262;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2631,1521;ESP6500_AA_GTC=845,941,290;ESP6500_CDS_SIZES=NM_206926.1:1671,NM_020451.2:1773;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=26;ESP6500_EA_AC=6650,1788;ESP6500_EA_GTC=2621,1408,190;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206926.1:coding-synonymous,NM_020451.2:coding-synonymous;ESP6500_GL=SEPN1;ESP6500_GRCh38_POSITION=1:25811771;ESP6500_GTC=3466,2349,480;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_206926.1:c.1071T>C,NM_020451.2:c.1173T>C;ESP6500_HGVS_PROTEIN_VAR=NM_206926.1:p.(P357),NM_020451.2:p.(P391);ESP6500_MAF=21.1899,36.6329,26.2828;ESP6500_TAC=9281,3309;CLINVAR_ALLELEID=101852;CLINVAR_CLNDISDB=MedGen:C0410180,OMIM:602771,SNOMED_CT:240063002|MedGen:CN169374|MedGen:CN239420;CLINVAR_CLNDN=Eichsfeld_type_congenital_muscular_dystrophy|not_specified|SEPN1-Related_Disorders;CLINVAR_CLNHGVS=NC_000001.11:g.25811771T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:559645;CLINVAR_GENEINFO=SELENON:57190;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=760597	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2372,201,0
chr1	25811960	rs11247744	A	G	572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11247744;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|9/12|c.1281+81A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|8/11|c.1179+81A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3966;p3_1000G_AF=0.791933;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=15734;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26138451;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:601,45,0
chr1	25812646	rs10902685;261274	C	T	1533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10902685;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|9/12|c.1282-41C>T||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,T|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|8/11|c.1180-41C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3494;p3_1000G_AF=0.697684;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=12745;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26139137;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1429,2797;ESP6500_AA_GTC=286,857,970;ESP6500_CDS_SIZES=NM_206926.1:1671,NM_020451.2:1773;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=22;ESP6500_EA_AC=6627,1791;ESP6500_EA_GTC=2605,1417,187;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206926.1:intron,NM_020451.2:intron;ESP6500_GL=SEPN1;ESP6500_GRCh38_POSITION=1:25812646;ESP6500_GTC=2891,2274,1157;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206926.1:c.1180-41C>T,NM_020451.2:c.1282-41C>T;ESP6500_MAF=21.2758,33.8145,36.286;ESP6500_TAC=8056,4588;CLINVAR_ALLELEID=249873;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.25812646C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SELENON:57190;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10902685	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1562,150,0
chr1	25812901	rs3738451	A	G	744.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738451;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|10/12|c.1387+109A>G||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|9/11|c.1285+109A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3983;p3_1000G_AF=0.795327;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=14916;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26139392;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:773,63,0
chr1	25812953	rs10751726	G	A	347.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10751726;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|10/12|c.1387+161G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|9/11|c.1285+161G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3479;p3_1000G_AF=0.694688;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=14724;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26139444;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:376,30,0
chr1	25814082	rs2294228;95959	C	A	1502.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2294228;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|SEPN1|SEPN1|transcript|NM_020451.2|protein_coding|12/13|c.1506C>A|p.Asn502Lys|1561/4332|1506/1773|502/590||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|missense_variant|MODERATE|SEPN1|SEPN1|transcript|NM_206926.1|protein_coding|11/12|c.1404C>A|p.Asn468Lys|1459/4230|1404/1671|468/556||;p3_1000G_AA=C|||;p3_1000G_AC=3493;p3_1000G_AF=0.697484;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=18006;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26140573;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1388,2894;ESP6500_AA_GTC=262,864,1015;ESP6500_CDS_SIZES=NM_206926.1:1671,NM_020451.2:1773;ESP6500_CG=2.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=101;ESP6500_EA_AC=6682,1806;ESP6500_EA_GTC=2626,1430,188;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206926.1:missense,NM_020451.2:missense;ESP6500_GL=SEPN1;ESP6500_GRCh38_POSITION=1:25814082;ESP6500_GS=94,94;ESP6500_GTC=2888,2294,1203;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_206926.1:c.1404C>A,NM_020451.2:c.1506C>A;ESP6500_HGVS_PROTEIN_VAR=NM_206926.1:p.(N468K),NM_020451.2:p.(N502K);ESP6500_MAF=21.2771,32.4148,36.805;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8070,4700;CLINVAR_ALLELEID=101855;CLINVAR_CLNDISDB=MedGen:C0410180,OMIM:602771,SNOMED_CT:240063002|MedGen:CN169374|MedGen:CN239420;CLINVAR_CLNDN=Eichsfeld_type_congenital_muscular_dystrophy|not_specified|SEPN1-Related_Disorders;CLINVAR_CLNHGVS=NC_000001.11:g.25814082C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:559649|UniProtKB_(protein):Q9NZV5#VAR_038847;CLINVAR_GENEINFO=SELENON:57190;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2294228	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1531,141,0
chr1	25823532	rs11247758	C	T	768.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11247758;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099625.1|protein_coding|2/6|c.25-112C>T||||||,T|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099627.1|protein_coding|2/6|c.25-112C>T||||||,T|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_019557.5|protein_coding|2/6|c.25-112C>T||||||,T|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099626.1|protein_coding|2/6|c.25-112C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC646471|LOC646471|transcript|NR_024498.1|pseudogene|1/1|n.75G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3790;p3_1000G_AF=0.756789;p3_1000G_AFR_AF=0.4327;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=19417;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26150023;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:797,63,0
chr1	25826175	rs6598923	T	C	679.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.22;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6598923;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|LOC646471|LOC646471|transcript|NR_024498.1|pseudogene||n.-2569A>G|||||2569|,C|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099625.1|protein_coding|3/6|c.130-127T>C||||||,C|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099627.1|protein_coding|3/6|c.130-127T>C||||||,C|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_019557.5|protein_coding|3/6|c.130-127T>C||||||,C|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099626.1|protein_coding|3/6|c.130-127T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4206;p3_1000G_AF=0.839856;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=19504;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26152666;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:708,57,0
chr1	25826267	rs6598924	A	G	1935.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=1.467;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6598924;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|LOC646471|LOC646471|transcript|NR_024498.1|pseudogene||n.-2661T>C|||||2661|,G|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099625.1|protein_coding|3/6|c.130-35A>G||||||,G|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099627.1|protein_coding|3/6|c.130-35A>G||||||,G|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_019557.5|protein_coding|3/6|c.130-35A>G||||||,G|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099626.1|protein_coding|3/6|c.130-35A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4318;p3_1000G_AF=0.86222;p3_1000G_AFR_AF=0.8033;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=20136;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.7763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26152758;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3318,710;ESP6500_AA_GTC=1359,600,55;ESP6500_CDS_SIZES=NM_019557.5:879,NM_001099627.1:618,NM_001099626.1:879,NM_001099625.1:879;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=6640,1726;ESP6500_EA_GTC=2629,1382,172;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019557.5:intron,NM_001099627.1:intron,NM_001099626.1:intron,NM_001099625.1:intron;ESP6500_GL=FAM54B;ESP6500_GRCh38_POSITION=1:25826267;ESP6500_GTC=3988,1982,227;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019557.5:c.130-35A>G,NM_001099627.1:c.130-35A>G,NM_001099626.1:c.130-35A>G,NM_001099625.1:c.130-35A>G;ESP6500_MAF=20.6311,17.6266,19.6547;ESP6500_TAC=9958,2436	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1964,189,0
chr1	25831846	rs1961580	C	T	807.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=3.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1961580;dbSNPBuildID=92;ANN=T|downstream_gene_variant|MODIFIER|AUNIP|AUNIP|transcript|NM_001287490.1|protein_coding||c.*242G>A|||||67|,T|downstream_gene_variant|MODIFIER|AUNIP|AUNIP|transcript|NM_024037.2|protein_coding||c.*3147G>A|||||2160|,T|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099625.1|protein_coding|6/6|c.774-75C>T||||||,T|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099627.1|protein_coding|6/6|c.*47-75C>T||||||,T|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_019557.5|protein_coding|6/6|c.774-75C>T||||||,T|intron_variant|MODIFIER|MTFR1L|MTFR1L|transcript|NM_001099626.1|protein_coding|6/6|c.774-75C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4318;p3_1000G_AF=0.86222;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=22496;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.7753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26158337;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:836,75,0
chr1	25901117	rs58316569;rs753834088	CA	C	14.41	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=4.8;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58316569;dbSNPBuildID=144,129;ANN=C|intron_variant|MODIFIER|STMN1|STMN1|transcript|NM_001145454.2|protein_coding|4/4|c.378+373delT||||||,C|intron_variant|MODIFIER|STMN1|STMN1|transcript|NM_203401.1|protein_coding|4/4|c.379-31delT||||||,C|intron_variant|MODIFIER|STMN1|STMN1|transcript|NM_005563.3|protein_coding|4/4|c.379-31delT||||||,C|intron_variant|MODIFIER|STMN1|STMN1|transcript|NM_203399.1|protein_coding|4/4|c.379-31delT||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:51,9,0
chr1	25983903	rs2275102	A	G	846.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275102;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PAFAH2|PAFAH2|transcript|NM_000437.3|protein_coding|6/10|c.552+43T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2738;p3_1000G_AF=0.546725;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=19404;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.6561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26310394;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1074,3332;ESP6500_AA_AGE=721.1+/-409.1;ESP6500_AA_GTC=132,810,1261;ESP6500_CDS_SIZES=NM_000437.3:1179;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=5448,3152;ESP6500_EA_AGE=473.7+/-368.7;ESP6500_EA_GTC=1725,1998,577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000437.3:intron;ESP6500_GL=PAFAH2;ESP6500_GRCh38_POSITION=1:25983903;ESP6500_GTC=1857,2808,1838;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000437.3:c.552+43T>C;ESP6500_MAF=36.6512,24.3759,49.8539;ESP6500_TAC=6522,6484	GT:AD:DP:GQ:PL	1/1:0,24:24:72:875,72,0
chr1	25984345	rs3738458	G	T	59.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738458;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PAFAH2|PAFAH2|transcript|NM_000437.3|protein_coding|5/10|c.410+115C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2735;p3_1000G_AF=0.546126;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=19670;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26310836;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:87,9,0
chr1	26023476	rs1938405	C	T	661.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1938405;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|EXTL1|EXTL1|transcript|NM_004455.2|protein_coding|1/10|c.779+51C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2912;p3_1000G_AF=0.58147;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=16755;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26349967;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=884,2854;ESP6500_AA_GTC=153,578,1138;ESP6500_CDS_SIZES=NM_004455.2:2031;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=5;ESP6500_EA_AC=3851,3291;ESP6500_EA_GTC=1133,1585,853;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004455.2:intron;ESP6500_GL=EXTL1;ESP6500_GRCh38_POSITION=1:26023476;ESP6500_GTC=1286,2163,1991;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004455.2:c.779+51C>T;ESP6500_MAF=46.0795,23.649,43.5202;ESP6500_TAC=4735,6145	GT:AD:DP:GQ:PL	1/1:0,21:21:63:690,63,0
chr1	26030687	rs562285073	A	AC	182.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.17;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=4.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=0.538;SOR=1.765;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35238823;dbSNPBuildID=142;ANN=AC|intron_variant|MODIFIER|EXTL1|EXTL1|transcript|NM_004455.2|protein_coding|4/10|c.1101+102dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=782;p3_1000G_AF=0.15615;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=20360;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26357178;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:19,11:30:99:220,0,408
chr1	26031165	rs2736831	C	A	2202.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2736831;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|EXTL1|EXTL1|transcript|NM_004455.2|protein_coding|5/11|c.1135C>A|p.His379Asn|2002/4014|1135/2031|379/676||;p3_1000G_AA=C|||;p3_1000G_AC=2976;p3_1000G_AF=0.594249;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=18516;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.6978;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26357656;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1276,3130;ESP6500_AA_AGE=433.7+/-343.7;ESP6500_AA_GTC=198,880,1125;ESP6500_CDS_SIZES=NM_004455.2:2031;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=114;ESP6500_EA_AC=5833,2767;ESP6500_EA_AGE=679.2+/-403.5;ESP6500_EA_GTC=1980,1873,447;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004455.2:missense;ESP6500_GL=EXTL1;ESP6500_GRCh38_POSITION=1:26031165;ESP6500_GS=68;ESP6500_GTC=2178,2753,1572;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_004455.2:c.1135C>A;ESP6500_HGVS_PROTEIN_VAR=NM_004455.2:p.(H379N);ESP6500_MAF=32.1744,28.9605,45.3406;ESP6500_PH=benign:0.029;ESP6500_TAC=7109,5897	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2231,225,0
chr1	26031364	rs2802321	A	G	517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2802321;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EXTL1|EXTL1|transcript|NM_004455.2|protein_coding|5/10|c.1235-96A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4874;p3_1000G_AF=0.973243;p3_1000G_AFR_AF=0.9032;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16911;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26357855;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:546,39,0
chr1	26032261	rs5773143;rs869252979	T	TA	990.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=1.255;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5773143;dbSNPBuildID=134,147;ANN=TA|intron_variant|MODIFIER|EXTL1|EXTL1|transcript|NM_004455.2|protein_coding|6/10|c.1342-133dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAA|AA|AAA|deletion;p3_1000G_AC=4375;p3_1000G_AF=0.873602;p3_1000G_AFR_AF=0.8132;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=19907;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26358752;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1028,87,0
chr1	26039058	rs2997452	C	T	552.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2997452;dbSNPBuildID=101;ANN=T|3_prime_UTR_variant|MODIFIER|SLC30A2|SLC30A2|transcript|NM_001004434.2|protein_coding|8/8|c.*102G>A|||||102|,T|3_prime_UTR_variant|MODIFIER|SLC30A2|SLC30A2|transcript|NM_032513.4|protein_coding|7/7|c.*102G>A|||||102|,T|downstream_gene_variant|MODIFIER|EXTL1|EXTL1|transcript|NM_004455.2|protein_coding||c.*3711C>T|||||2595|;p3_1000G_AA=T|||;p3_1000G_AC=3508;p3_1000G_AF=0.700479;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=18425;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.6968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26365549;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:581,51,0
chr1	26042806	rs2997451	T	C	409.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.96;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2997451;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|SLC30A2|SLC30A2|transcript|NM_001004434.2|protein_coding|4/7|c.573-98A>G||||||,C|intron_variant|MODIFIER|SLC30A2|SLC30A2|transcript|NM_032513.4|protein_coding|3/6|c.426-98A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4368;p3_1000G_AF=0.872204;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=20782;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26369297;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:438,33,0
chr1	26161528	rs3748857	G	A	683.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.252;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=5.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=0.256;SOR=0.167;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748857;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|FAM110D|FAM110D|transcript|NM_024869.2|protein_coding|2/2|c.237G>A|p.Pro79Pro|424/1524|237/816|79/271||;p3_1000G_AA=G|||;p3_1000G_AC=1413;p3_1000G_AF=0.282149;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=12069;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26488019;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4448;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=82,2872;ESP6500_AA_GTC=1,80,1396;ESP6500_CDS_SIZES=NM_024869.2:816;ESP6500_CG=-3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=3;ESP6500_EA_AC=504,6034;ESP6500_EA_GTC=12,480,2777;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024869.2:coding-synonymous;ESP6500_GL=FAM110D;ESP6500_GRCh38_POSITION=1:26161528;ESP6500_GTC=13,560,4173;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024869.2:c.237G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024869.2:p.(P79);ESP6500_MAF=7.7088,2.7759,6.1736;ESP6500_TAC=586,8906	GT:AD:DP:GQ:PL	0/1:17,24:41:99:712,0,511
chr1	26164357	rs12129872	T	C	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.126;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12129872;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|FAM110D|FAM110D|transcript|NM_024869.2|protein_coding||c.*2250T>C|||||1729|,C|intergenic_region|MODIFIER|FAM110D-ZNF593|FAM110D-ZNF593|intergenic_region|FAM110D-ZNF593|||n.26164357T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2446;p3_1000G_AF=0.488419;p3_1000G_AFR_AF=0.1248;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=7877;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.4384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26490848;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:57:71,0,57
chr1	26168395	rs3762459	C	G	1022.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=1.08;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762459;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|ZNF593|ZNF593|transcript|NM_015871.4|protein_coding||c.-1589C>G|||||1502|,G|intergenic_region|MODIFIER|FAM110D-ZNF593|FAM110D-ZNF593|intergenic_region|FAM110D-ZNF593|||n.26168395C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2492;p3_1000G_AF=0.497604;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=20578;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.3121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26494886;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1051,0,1106
chr1	26170160	rs7087	T	C	533.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.96;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.073;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=1.31;SOR=1.315;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7087;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|ZNF593|ZNF593|transcript|NM_015871.4|protein_coding|1/3|c.177T>C|p.Gly59Gly|264/649|177/405|59/134||;p3_1000G_AA=C|||;p3_1000G_AC=2678;p3_1000G_AF=0.534744;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=13465;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.2992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26496651;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2355,1869;ESP6500_AA_GTC=730,895,487;ESP6500_CDS_SIZES=NM_015871.4:405;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=7;ESP6500_EA_AC=2256,6012;ESP6500_EA_GTC=382,1492,2260;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015871.4:coding-synonymous;ESP6500_GL=ZNF593;ESP6500_GRCh38_POSITION=1:26170160;ESP6500_GTC=1112,2387,2747;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015871.4:c.177T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015871.4:p.(G59);ESP6500_MAF=27.2859,44.2472,36.9116;ESP6500_TAC=4611,7881	GT:AD:DP:GQ:PL	0/1:15,18:33:99:562,0,342
chr1	26170379	rs2232654	A	G	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=6.271;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.308;SOR=0.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2232654;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|ZNF593|ZNF593|transcript|NM_015871.4|protein_coding|1/2|c.201-39A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2308;p3_1000G_AF=0.460863;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=18140;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.3161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26496870;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1675,2731;ESP6500_AA_AGE=509.6+/-367.3;ESP6500_AA_GTC=328,1019,856;ESP6500_CDS_SIZES=NM_015871.4:405;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=198;ESP6500_EA_AC=2612,5988;ESP6500_EA_AGE=423.3+/-354.3;ESP6500_EA_GTC=387,1838,2075;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015871.4:intron;ESP6500_GL=ZNF593;ESP6500_GRCh38_POSITION=1:26170379;ESP6500_GTC=715,2857,2931;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015871.4:c.201-39A>G;ESP6500_MAF=30.3721,38.0163,32.9617;ESP6500_TAC=4287,8719	GT:AD:DP:GQ:PL	0/1:16,14:30:99:399,0,444
chr1	26170849	rs8768	A	C	370.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs368803206,rs8768;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|ZNF593|ZNF593|transcript|NM_015871.4|protein_coding|3/3|c.*133A>C|||||133|;p3_1000G_AA=C|||;p3_1000G_AC=4211;p3_1000G_AF=0.840855;p3_1000G_AFR_AF=0.7549;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=18326;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26497340;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:399,33,0
chr1	26171135	rs1892494	C	G	198.22	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=24.78;ReadPosRankSum=0;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1892494;dbSNPBuildID=92;ANN=G|downstream_gene_variant|MODIFIER|ZNF593|ZNF593|transcript|NM_015871.4|protein_coding||c.*419C>G|||||262|,G|intergenic_region|MODIFIER|ZNF593-CNKSR1|ZNF593-CNKSR1|intergenic_region|ZNF593-CNKSR1|||n.26171135C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2681;p3_1000G_AF=0.535343;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=16690;p3_1000G_EAS_AF=0.6438;p3_1000G_EUR_AF=0.2992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26497626;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:2,6:8:4:1|1:26171135_C_G:225,4,0
chr1	26171145	rs7555877	G	A	325.88	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.16;ReadPosRankSum=-0.895;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7555877;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|ZNF593|ZNF593|transcript|NM_015871.4|protein_coding||c.*429G>A|||||272|,A|intergenic_region|MODIFIER|ZNF593-CNKSR1|ZNF593-CNKSR1|intergenic_region|ZNF593-CNKSR1|||n.26171145G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2026;p3_1000G_AF=0.404553;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=16372;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26497636;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:2,10:12:16:1|1:26171135_C_G:354,16,0
chr1	26171705	rs12565756	G	T	484.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.127;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.712;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.104;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12565756;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|ZNF593|ZNF593|transcript|NM_015871.4|protein_coding||c.*989G>T|||||832|,T|intergenic_region|MODIFIER|ZNF593-CNKSR1|ZNF593-CNKSR1|intergenic_region|ZNF593-CNKSR1|||n.26171705G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2260;p3_1000G_AF=0.451278;p3_1000G_AFR_AF=0.3298;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=19834;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.2982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26498196;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,22:50:99:513,0,779
chr1	26177705	rs2783707	C	G	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.489;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2783707;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297647.1|protein_coding|1/20|c.52+106C>G||||||,G|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297648.1|protein_coding|1/20|c.-718+106C>G||||||,G|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_006314.2|protein_coding|1/20|c.52+106C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2681;p3_1000G_AF=0.535343;p3_1000G_AFR_AF=0.6309;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=15715;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26504196;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:99:145,0,104
chr1	26181802	rs3819033	G	A	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.954;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.675;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3819033;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297647.1|protein_coding|3/20|c.393-55G>A||||||,A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297648.1|protein_coding|3/20|c.-377-55G>A||||||,A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_006314.2|protein_coding|3/20|c.393-55G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1432;p3_1000G_AF=0.285942;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=18471;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26508293;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=47,1337;ESP6500_AA_GTC=1,45,646;ESP6500_CDS_SIZES=NM_006314.2:2142;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=46;ESP6500_EA_AC=305,2877;ESP6500_EA_GTC=11,283,1297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006314.2:intron;ESP6500_GL=CNKSR1;ESP6500_GRCh38_POSITION=1:26181802;ESP6500_GTC=12,328,1943;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006314.2:c.393-55G>A;ESP6500_MAF=9.5852,3.396,7.7092;ESP6500_TAC=352,4214	GT:AD:DP:GQ:PL	0/1:13,12:25:99:308,0,284
chr1	26181989	rs2275945	T	C	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.68;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-1.336;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275945;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297647.1|protein_coding|4/20|c.477+48T>C||||||,C|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297648.1|protein_coding|4/20|c.-293+48T>C||||||,C|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_006314.2|protein_coding|4/20|c.477+48T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1685;p3_1000G_AF=0.336462;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=21133;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26508480;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=723,3683;ESP6500_AA_AGE=299.8+/-286.0;ESP6500_AA_GTC=63,597,1543;ESP6500_CDS_SIZES=NM_006314.2:2142;ESP6500_CG=0.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=844,7756;ESP6500_EA_AGE=191.0+/-237.3;ESP6500_EA_GTC=35,774,3491;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006314.2:intron;ESP6500_GL=CNKSR1;ESP6500_GRCh38_POSITION=1:26181989;ESP6500_GTC=98,1371,5034;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006314.2:c.477+48T>C;ESP6500_MAF=9.814,16.4094,12.0483;ESP6500_TAC=1567,11439	GT:AD:DP:GQ:PL	0/1:8,9:17:99:228,0,190
chr1	26184648	rs2297711	G	A	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.53;ReadPosRankSum=0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297711;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297647.1|protein_coding|13/20|c.1156+36G>A||||||,A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297648.1|protein_coding|13/20|c.361+36G>A||||||,A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_006314.2|protein_coding|13/20|c.1135+36G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=567;p3_1000G_AF=0.113219;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=15953;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.1491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26511139;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=188,4214;ESP6500_AA_GTC=7,174,2020;ESP6500_CDS_SIZES=NM_006314.2:2142;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=1360,7238;ESP6500_EA_GTC=119,1122,3058;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006314.2:intron;ESP6500_GL=CNKSR1;ESP6500_GRCh38_POSITION=1:26184648;ESP6500_GTC=126,1296,5078;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006314.2:c.1135+36G>A;ESP6500_MAF=15.8176,4.2708,11.9077;ESP6500_TAC=1548,11452	GT:AD:DP:GQ:PL	0/1:6,3:9:60:60,0,121
chr1	26185209	rs2783680	A	G	1590.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.201;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2783680;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297647.1|protein_coding|14/20|c.1329+23A>G||||||,G|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297648.1|protein_coding|14/20|c.534+23A>G||||||,G|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_006314.2|protein_coding|14/20|c.1308+23A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3560;p3_1000G_AF=0.710863;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=13814;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.5964;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26511700;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2059,2017;ESP6500_AA_GTC=584,891,563;ESP6500_CDS_SIZES=NM_006314.2:2142;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=6;ESP6500_EA_AC=4827,3193;ESP6500_EA_GTC=1572,1683,755;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006314.2:intron;ESP6500_GL=CNKSR1;ESP6500_GRCh38_POSITION=1:26185209;ESP6500_GTC=2156,2574,1318;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006314.2:c.1308+23A>G;ESP6500_MAF=39.813,49.4848,43.0721;ESP6500_TAC=6886,5210	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1619,153,0
chr1	26189038	rs11278474;rs141225811;rs59607766;rs768509999;rs769526552;rs775317820	ACCAGACT	A	908.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.83;SOR=1.828;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11278474,rs59607766,rs141225811,rs72500733;dbSNPBuildID=132,144,144,144,134,129;ANN=A|upstream_gene_variant|MODIFIER|CATSPER4|CATSPER4|transcript|NM_198137.1|protein_coding||c.-1589_-1583delCCAGACT|||||1589|,A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297647.1|protein_coding|20/20|c.1893+101_1893+107delCAGACTC||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297648.1|protein_coding|20/20|c.1098+101_1098+107delCAGACTC||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_006314.2|protein_coding|20/20|c.1872+101_1872+107delCAGACTC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4741;p3_1000G_AF=0.946685;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=14684;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26515529;p3_1000G_GRCH37_REF=ACCAGACT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,21:21:64:946,64,0
chr1	26189465	rs1045105	C	A	654.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.698;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-1.601;SOR=0.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1045105;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|CNKSR1|CNKSR1|transcript|NM_001297647.1|protein_coding|21/21|c.2080C>A|p.His694Asn|2138/2557|2080/2163|694/720||,A|missense_variant|MODERATE|CNKSR1|CNKSR1|transcript|NM_001297648.1|protein_coding|21/21|c.1285C>A|p.His429Asn|2112/2531|1285/1368|429/455||,A|missense_variant|MODERATE|CNKSR1|CNKSR1|transcript|NM_006314.2|protein_coding|21/21|c.2059C>A|p.His687Asn|2117/2536|2059/2142|687/713||,A|upstream_gene_variant|MODIFIER|CATSPER4|CATSPER4|transcript|NM_198137.1|protein_coding||c.-1163C>A|||||1163|;p3_1000G_AA=C|||;p3_1000G_AC=591;p3_1000G_AF=0.118011;p3_1000G_AFR_AF=0.0779;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=17563;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.1223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26515956;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=384,4022;ESP6500_AA_AGE=191.6+/-217.2;ESP6500_AA_GTC=38,308,1857;ESP6500_CDS_SIZES=NM_006314.2:2142;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=133;ESP6500_EA_AC=1162,7438;ESP6500_EA_AGE=237.9+/-269.6;ESP6500_EA_GTC=87,988,3225;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006314.2:missense;ESP6500_GL=CNKSR1;ESP6500_GRCh38_POSITION=1:26189465;ESP6500_GS=68;ESP6500_GTC=125,1296,5082;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_006314.2:c.2059C>A;ESP6500_HGVS_PROTEIN_VAR=NM_006314.2:p.(H687N);ESP6500_MAF=13.5116,8.7154,11.8868;ESP6500_PH=benign:0.0;ESP6500_TAC=1546,11460	GT:AD:DP:GQ:PL	0/1:20,27:47:99:683,0,499
chr1	26191176	rs11247864	T	C	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.97;ReadPosRankSum=1.98;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247864;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297647.1|protein_coding||c.*1628T>C|||||1292|,C|downstream_gene_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_001297648.1|protein_coding||c.*1628T>C|||||1292|,C|downstream_gene_variant|MODIFIER|CNKSR1|CNKSR1|transcript|NM_006314.2|protein_coding||c.*1628T>C|||||1292|,C|intron_variant|MODIFIER|CATSPER4|CATSPER4|transcript|NM_198137.1|protein_coding|1/9|c.214-111T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1480;p3_1000G_AF=0.295527;p3_1000G_AFR_AF=0.438;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=17456;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26517667;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:58:189,0,58
chr1	26198215	rs9970046	A	G	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.41;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.29;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=-0.659;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9970046;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CATSPER4|CATSPER4|transcript|NM_198137.1|protein_coding|5/9|c.679-71A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3368;p3_1000G_AF=0.672524;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=18940;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.9006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26524706;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,21:38:99:755,0,474
chr1	26201372	rs17163674	C	T	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.643;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.516;SOR=0.951;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17163674;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|CATSPER4|CATSPER4|transcript|NM_198137.1|protein_coding|9/10|c.1218C>T|p.Arg406Arg|1218/1419|1218/1419|406/472||;p3_1000G_AA=C|||;p3_1000G_AC=450;p3_1000G_AF=0.0898562;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=17973;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.1193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26527863;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=112,4294;ESP6500_AA_AGE=86.3+/-125.0;ESP6500_AA_GTC=2,108,2093;ESP6500_CDS_SIZES=NM_198137.1:1419;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=64;ESP6500_EA_AC=1165,7435;ESP6500_EA_AGE=238.3+/-269.8;ESP6500_EA_GTC=86,993,3221;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198137.1:coding-synonymous;ESP6500_GL=CATSPER4;ESP6500_GRCh38_POSITION=1:26201372;ESP6500_GTC=88,1101,5314;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198137.1:c.1218C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198137.1:p.(R406);ESP6500_MAF=13.5465,2.542,9.8185;ESP6500_TAC=1277,11729	GT:AD:DP:GQ:PL	0/1:17,22:39:99:576,0,439
chr1	26202431	rs10902720	C	G	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.143;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10902720;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CATSPER4|CATSPER4|transcript|NM_198137.1|protein_coding|9/9|c.1366-58C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1878;p3_1000G_AF=0.375;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=16551;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.3588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26528922;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=819,565;ESP6500_AA_GTC=245,329,118;ESP6500_CDS_SIZES=NM_198137.1:1419;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=24;ESP6500_EA_AC=1103,2079;ESP6500_EA_GTC=210,683,698;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198137.1:intron;ESP6500_GL=CATSPER4;ESP6500_GRCh38_POSITION=1:26202431;ESP6500_GTC=455,1012,816;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_198137.1:c.1366-58C>G;ESP6500_MAF=34.6637,40.8237,42.0937;ESP6500_TAC=1922,2644	GT:AD:DP:GQ:PL	0/1:5,7:12:99:256,0,139
chr1	26202630	rs6691747	G	C	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.49;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6691747;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|CATSPER4|CATSPER4|transcript|NM_198137.1|protein_coding||c.*88G>C|||||88|,C|intergenic_region|MODIFIER|CATSPER4-LOC101928303|CATSPER4-LOC101928303|intergenic_region|CATSPER4-LOC101928303|||n.26202630G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2206;p3_1000G_AF=0.440495;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=14198;p3_1000G_EAS_AF=0.4008;p3_1000G_EUR_AF=0.6093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26529121;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,8:22:99:239,0,388
chr1	26257507	rs4659417	T	C	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.972;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4659417;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_022778.4|protein_coding|4/13|c.904-90T>C||||||,C|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281517.2|protein_coding|3/12|c.751-90T>C||||||,C|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_001319944.1|protein_coding|4/13|c.904-90T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3638;p3_1000G_AF=0.726438;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=19993;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.9304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26583998;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:386,0,425
chr1	26270944	rs4659419	G	A	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.056;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.692;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.725;SOR=1.267;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4659419;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_022778.4|protein_coding|9/13|c.1650-70G>A||||||,A|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281517.2|protein_coding|8/12|c.1497-70G>A||||||,A|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_001319944.1|protein_coding|9/13|c.1650-70G>A||||||,A|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281518.2|protein_coding|2/6|c.-55-70G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3638;p3_1000G_AF=0.726438;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=19188;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.9304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26597435;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,24:49:99:644,0,631
chr1	26271182	rs11247894	G	A	719.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.481;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.212;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.13;SOR=1.151;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247894;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_022778.4|protein_coding|10/13|c.1743+75G>A||||||,A|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281517.2|protein_coding|9/12|c.1590+75G>A||||||,A|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_001319944.1|protein_coding|10/13|c.1743+75G>A||||||,A|intron_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281518.2|protein_coding|3/6|c.39+75G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2634;p3_1000G_AF=0.525958;p3_1000G_AFR_AF=0.6165;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=19886;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.6004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26597673;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,30:60:99:748,0,821
chr1	26282602	rs72872912	A	T	1018.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=3.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=1.37;SOR=0.369;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72872912;dbSNPBuildID=130;ANN=T|downstream_gene_variant|MODIFIER|CEP85|CEP85|transcript|NM_022778.4|protein_coding||c.*5309A>T|||||3792|,T|downstream_gene_variant|MODIFIER|SH3BGRL3|SH3BGRL3|transcript|NM_031286.3|protein_coding||c.*1479A>T|||||1080|,T|downstream_gene_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281517.2|protein_coding||c.*5309A>T|||||3792|,T|downstream_gene_variant|MODIFIER|CEP85|CEP85|transcript|NM_001319944.1|protein_coding||c.*5309A>T|||||3792|,T|downstream_gene_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281518.2|protein_coding||c.*5309A>T|||||3792|,T|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_183008.2|protein_coding|15/15|c.1293-33T>A||||||,T|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_001077262.1|protein_coding|10/10|c.933-33T>A||||||,T|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding|14/14|c.1194-33T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=865;p3_1000G_AF=0.172724;p3_1000G_AFR_AF=0.2179;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=16558;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.1074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26609093;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=783,3385;ESP6500_AA_GTC=73,637,1374;ESP6500_CDS_SIZES=NM_183008.2:1563,NM_145345.2:1464,NM_001077262.1:1203;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=78;ESP6500_EA_AC=905,7501;ESP6500_EA_GTC=46,813,3344;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183008.2:intron,NM_145345.2:intron,NM_001077262.1:intron;ESP6500_GL=UBXN11;ESP6500_GRCh38_POSITION=1:26282602;ESP6500_GTC=119,1450,4718;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_183008.2:c.1293-33T>A,NM_145345.2:c.1194-33T>A,NM_001077262.1:c.933-33T>A;ESP6500_MAF=10.7661,18.786,13.4245;ESP6500_TAC=1688,10886	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1047,0,741
chr1	26282816	rs6598952	G	T	878.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.216;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.352;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=0.046;SOR=1.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6598952;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|CEP85|CEP85|transcript|NM_022778.4|protein_coding||c.*5523G>T|||||4006|,T|downstream_gene_variant|MODIFIER|SH3BGRL3|SH3BGRL3|transcript|NM_031286.3|protein_coding||c.*1693G>T|||||1294|,T|downstream_gene_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281517.2|protein_coding||c.*5523G>T|||||4006|,T|downstream_gene_variant|MODIFIER|CEP85|CEP85|transcript|NM_001319944.1|protein_coding||c.*5523G>T|||||4006|,T|downstream_gene_variant|MODIFIER|CEP85|CEP85|transcript|NM_001281518.2|protein_coding||c.*5523G>T|||||4006|,T|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_183008.2|protein_coding|14/15|c.1152-27C>A||||||,T|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_001077262.1|protein_coding|9/10|c.792-27C>A||||||,T|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding|13/14|c.1053-27C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3637;p3_1000G_AF=0.726238;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=17558;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.9304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26609307;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3726,504;ESP6500_AA_GTC=1635,456,24;ESP6500_CDS_SIZES=NM_183008.2:1563,NM_145345.2:1464,NM_001077262.1:1203;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=79;ESP6500_EA_AC=7948,530;ESP6500_EA_GTC=3719,510,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183008.2:intron,NM_145345.2:intron,NM_001077262.1:intron;ESP6500_GL=UBXN11;ESP6500_GRCh38_POSITION=1:26282816;ESP6500_GTC=5354,966,34;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_183008.2:c.1152-27C>A,NM_145345.2:c.1053-27C>A,NM_001077262.1:c.792-27C>A;ESP6500_MAF=6.2515,11.9149,8.1366;ESP6500_TAC=11674,1034	GT:AD:DP:GQ:PL	0/1:22,33:55:99:907,0,541
chr1	26284400	rs4332350	A	C	456.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.68;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4332350;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|UBXN11|UBXN11|transcript|NM_183008.2|protein_coding|12/16|c.935T>G|p.Leu312Arg|1208/1853|935/1563|312/520||,C|missense_variant|MODERATE|UBXN11|UBXN11|transcript|NM_001077262.1|protein_coding|7/11|c.575T>G|p.Leu192Arg|723/1368|575/1203|192/400||,C|missense_variant|MODERATE|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding|11/15|c.836T>G|p.Leu279Arg|1203/1848|836/1464|279/487||,C|downstream_gene_variant|MODIFIER|SH3BGRL3|SH3BGRL3|transcript|NM_031286.3|protein_coding||c.*3277A>C|||||2878|;p3_1000G_AA=C|||;p3_1000G_AC=3641;p3_1000G_AF=0.727037;p3_1000G_AFR_AF=0.8828;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=17919;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.9304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26610891;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3704,492;ESP6500_AA_GTC=1625,454,19;ESP6500_CDS_SIZES=NM_183008.2:1563,NM_145345.2:1464,NM_001077262.1:1203;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=42;ESP6500_EA_AC=7898,528;ESP6500_EA_GTC=3695,508,10;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_183008.2:missense,NM_145345.2:missense,NM_001077262.1:missense;ESP6500_GL=UBXN11;ESP6500_GRCh38_POSITION=1:26284400;ESP6500_GS=102,102,102;ESP6500_GTC=5320,962,29;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_183008.2:c.935T>G,NM_145345.2:c.836T>G,NM_001077262.1:c.575T>G;ESP6500_HGVS_PROTEIN_VAR=NM_183008.2:p.(L312R),NM_145345.2:p.(L279R),NM_001077262.1:p.(L192R);ESP6500_MAF=6.2663,11.7255,8.0811;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=11602,1020	GT:AD:DP:GQ:PL	0/1:25,19:44:99:485,0,606
chr1	26285551	rs11247898	A	G	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.49;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=5.252;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.823;SOR=1.79;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247898;dbSNPBuildID=120;ANN=G|downstream_gene_variant|MODIFIER|SH3BGRL3|SH3BGRL3|transcript|NM_031286.3|protein_coding||c.*4428A>G|||||4029|,G|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_183008.2|protein_coding|10/15|c.775-10T>C||||||,G|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_001077262.1|protein_coding|5/10|c.415-10T>C||||||,G|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding|9/14|c.676-10T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3620;p3_1000G_AF=0.722843;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=15908;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.9304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26612042;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3831,513;ESP6500_AA_GTC=1681,469,22;ESP6500_CDS_SIZES=NM_183008.2:1563,NM_145345.2:1464,NM_001077262.1:1203;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=8005,537;ESP6500_EA_GTC=3744,517,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183008.2:intron,NM_145345.2:intron,NM_001077262.1:intron;ESP6500_GL=UBXN11;ESP6500_GRCh38_POSITION=1:26285551;ESP6500_GTC=5425,986,32;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_183008.2:c.775-10T>C,NM_145345.2:c.676-10T>C,NM_001077262.1:c.415-10T>C;ESP6500_MAF=6.2866,11.8094,8.1484;ESP6500_TAC=11836,1050	GT:AD:DP:GQ:PL	0/1:25,15:40:99:474,0,602
chr1	26294355	rs3832184	C	CA	312.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-1.852;SOR=0.184;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3832184;dbSNPBuildID=107;ANN=CA|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_183008.2|protein_coding|8/15|c.433-25_433-24insT||||||,CA|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_001077262.1|protein_coding|4/10|c.199+6570_199+6571insT||||||,CA|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding|7/14|c.334-25_334-24insT||||||;p3_1000G_AA=A|-|A|deletion;p3_1000G_AC=3603;p3_1000G_AF=0.719449;p3_1000G_AFR_AF=0.8752;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=18603;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.9264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26620846;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=INDEL;ESP6500_AA_AC=3451,503;ESP6500_AA_GTC=1517,417,43;ESP6500_CDS_SIZES=NM_183008.2:1563,NM_145345.2:1464,NM_001077262.1:1203;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=45;ESP6500_EA_AC=7482,538;ESP6500_EA_GTC=3489,504,17;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183008.2:intron,NM_145345.2:intron,NM_001077262.1:intron;ESP6500_GL=UBXN11;ESP6500_GRCh38_POSITION=1:26294355;ESP6500_GTC=5006,921,60;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_183008.2:c.433-25_433-24insT,NM_145345.2:c.334-25_334-24insT,NM_001077262.1:c.199+6570_199+6571insT;ESP6500_MAF=6.7082,12.7213,8.6938;ESP6500_TAC=10933,1041	GT:AD:DP:GQ:PL	0/1:10,11:21:99:350,0,330
chr1	26300987	rs2276712	T	C	1604.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=3.545;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.357;SOR=0.78;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276712;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|UBXN11|UBXN11|transcript|NM_183008.2|protein_coding|5/16|c.138A>G|p.Ser46Ser|411/1853|138/1563|46/520||,C|synonymous_variant|LOW|UBXN11|UBXN11|transcript|NM_001077262.1|protein_coding|4/11|c.138A>G|p.Ser46Ser|286/1368|138/1203|46/400||,C|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding|4/14|c.100+707A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2841;p3_1000G_AF=0.567292;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=18424;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.7356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26627478;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4939;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2694,1462;ESP6500_AA_GTC=861,972,245;ESP6500_CDS_SIZES=NM_183008.2:1563,NM_145345.2:1464,NM_001077262.1:1203;ESP6500_CG=-8.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=135;ESP6500_EA_AC=6475,1971;ESP6500_EA_GTC=2501,1473,249;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183008.2:coding-synonymous,NM_145345.2:intron,NM_001077262.1:coding-synonymous;ESP6500_GL=UBXN11;ESP6500_GRCh38_POSITION=1:26300987;ESP6500_GTC=3362,2445,494;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_183008.2:c.138A>G,NM_145345.2:c.100+707A>G,NM_001077262.1:c.138A>G;ESP6500_HGVS_PROTEIN_VAR=NM_183008.2:p.(S46),.,NM_001077262.1:p.(S46);ESP6500_MAF=23.3365,35.1781,27.2417;ESP6500_TAC=9169,3433	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1633,0,1101
chr1	26302974	rs11803933	G	C	391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.423;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.607;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.708;SOR=0.328;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11803933;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_183008.2|protein_coding|2/15|c.-35-56C>G||||||,C|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_001077262.1|protein_coding|1/10|c.-35-56C>G||||||,C|intron_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding|2/14|c.-35-56C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2844;p3_1000G_AF=0.567891;p3_1000G_AFR_AF=0.59;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=17507;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.7356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26629465;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,17:30:99:420,0,344
chr1	26320083	rs112252579	G	A	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.141;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=-0.92;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112252579;dbSNPBuildID=132;ANN=A|upstream_gene_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding||c.-17200C>T|||||1818|,A|downstream_gene_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding||c.*1885C>T|||||1776|,A|intron_variant|MODIFIER|CD52|CD52|transcript|NM_001803.2|protein_coding|1/1|c.55-88G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=839;p3_1000G_AF=0.167532;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=12882;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26646574;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:111,0,389
chr1	26320235	rs1071849	A	G	1024.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.541;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.445;SOR=0.703;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1071849;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|CD52|CD52|transcript|NM_001803.2|protein_coding|2/2|c.119A>G|p.Asn40Ser|217/505|119/186|40/61||,G|sequence_feature|MODERATE|CD52|CD52|glycosylation-site:N-linked_(GlcNAc...)|NM_001803.2|protein_coding|2/2|c.119A>G||||||,G|upstream_gene_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding||c.-17352T>C|||||1970|,G|downstream_gene_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding||c.*1733T>C|||||1624|;p3_1000G_AA=A|||;p3_1000G_AC=2908;p3_1000G_AF=0.580671;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=19289;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.7356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26646726;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2938,1468;ESP6500_AA_AGE=679.5+/-403.7;ESP6500_AA_GTC=960,1018,225;ESP6500_CDS_SIZES=NM_001803.2:186;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=152;ESP6500_EA_AC=6583,2017;ESP6500_EA_AGE=721.3+/-406.4;ESP6500_EA_GTC=2508,1567,225;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001803.2:missense;ESP6500_GL=CD52;ESP6500_GRCh38_POSITION=1:26320235;ESP6500_GS=46;ESP6500_GTC=3468,2585,450;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001803.2:c.119A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001803.2:p.(N40S);ESP6500_MAF=23.4535,33.3182,26.7953;ESP6500_PH=benign:0.009;ESP6500_TAC=9521,3485	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,27:54:99:0|1:26320235_A_G:1053,0,1625
chr1	26320239	rs17645	A	G	1024.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.405;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.026;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=-0.363;SOR=0.778;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17645;dbSNPBuildID=63;ANN=G|missense_variant|MODERATE|CD52|CD52|transcript|NM_001803.2|protein_coding|2/2|c.123A>G|p.Ile41Met|221/505|123/186|41/61||,G|upstream_gene_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding||c.-17356T>C|||||1974|,G|downstream_gene_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding||c.*1729T>C|||||1620|;p3_1000G_AA=G|||;p3_1000G_AC=2908;p3_1000G_AF=0.580671;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=19023;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.7356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26646730;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2938,1468;ESP6500_AA_AGE=473.3+/-356.6;ESP6500_AA_GTC=960,1018,225;ESP6500_CDS_SIZES=NM_001803.2:186;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_63;ESP6500_DP=157;ESP6500_EA_AC=6583,2017;ESP6500_EA_AGE=352.9+/-328.9;ESP6500_EA_GTC=2508,1567,225;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001803.2:missense;ESP6500_GL=CD52;ESP6500_GRCh38_POSITION=1:26320239;ESP6500_GS=10;ESP6500_GTC=3468,2585,450;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001803.2:c.123A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001803.2:p.(I41M);ESP6500_MAF=23.4535,33.3182,26.7953;ESP6500_PH=benign:0.0;ESP6500_TAC=9521,3485	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,28:55:99:0|1:26320235_A_G:1053,0,1625
chr1	26322060	rs11247913	G	C	636.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.311;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.787;SOR=0.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247913;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|19/19|c.4898-4C>G||||||,C|upstream_gene_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding||c.-19177C>G|||||3795|,C|downstream_gene_variant|MODIFIER|CD52|CD52|transcript|NM_001803.2|protein_coding||c.*1758G>C|||||1537|;p3_1000G_AA=G|||;p3_1000G_AC=2803;p3_1000G_AF=0.559704;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=16223;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.7346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26648551;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2632,1774;ESP6500_AA_AGE=643.0+/-397.8;ESP6500_AA_GTC=779,1074,350;ESP6500_CDS_SIZES=NM_001039775.3:4986;ESP6500_CG=-0.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=65;ESP6500_EA_AC=6575,2025;ESP6500_EA_AGE=719.8+/-406.3;ESP6500_EA_GTC=2499,1577,224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039775.3:intron;ESP6500_GL=AIM1L;ESP6500_GRCh38_POSITION=1:26322060;ESP6500_GTC=3278,2651,574;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039775.3:c.4898-4C>G;ESP6500_MAF=23.5465,40.2633,29.2096;ESP6500_TAC=9207,3799	GT:AD:DP:GQ:PL	0/1:22,28:50:99:665,0,558
chr1	26322335	rs60799739	G	A	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.139;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.494;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60799739;dbSNPBuildID=129;ANN=A|upstream_gene_variant|MODIFIER|UBXN11|UBXN11|transcript|NM_145345.2|protein_coding||c.-19452C>T|||||4070|,A|downstream_gene_variant|MODIFIER|CD52|CD52|transcript|NM_001803.2|protein_coding||c.*2033G>A|||||1812|,A|intron_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|18/19|c.4738-12C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=681;p3_1000G_AF=0.135982;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=17489;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.1034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26648826;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=433,3971;ESP6500_AA_GTC=15,403,1784;ESP6500_CDS_SIZES=NM_001039775.3:4986;ESP6500_CG=3.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=23;ESP6500_EA_AC=898,7700;ESP6500_EA_GTC=47,804,3448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039775.3:intron;ESP6500_GL=AIM1L;ESP6500_GRCh38_POSITION=1:26322335;ESP6500_GTC=62,1207,5232;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039775.3:c.4738-12C>T;ESP6500_MAF=10.4443,9.832,10.2369;ESP6500_TAC=1331,11671	GT:AD:DP:GQ:PL	0/1:6,5:11:99:135,0,208
chr1	26328717	rs11247916	C	T	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.347;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.143;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=1.46;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247916;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|16/19|c.4454+17G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2289;p3_1000G_AF=0.457069;p3_1000G_AFR_AF=0.6672;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=16864;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.5308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26655208;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2800,1606;ESP6500_AA_AGE=664.4+/-401.4;ESP6500_AA_GTC=892,1016,295;ESP6500_CDS_SIZES=NM_001039775.3:4986;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=117;ESP6500_EA_AC=4501,4099;ESP6500_EA_AGE=591.4+/-392.8;ESP6500_EA_GTC=1167,2167,966;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039775.3:intron;ESP6500_GL=AIM1L;ESP6500_GRCh38_POSITION=1:26328717;ESP6500_GTC=2059,3183,1261;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039775.3:c.4454+17G>A;ESP6500_MAF=47.6628,36.4503,43.8644;ESP6500_TAC=7301,5705	GT:AD:DP:GQ:PL	0/1:35,19:54:99:454,0,922
chr1	26328971	rs12057290	C	T	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.398;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12057290;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|15/19|c.4315-98G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2287;p3_1000G_AF=0.456669;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=15255;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26655462;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:120,0,185
chr1	26336283	rs7517559	C	T	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.236;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.197;SOR=0.998;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7517559;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|13/19|c.4071+55G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3361;p3_1000G_AF=0.671126;p3_1000G_AFR_AF=0.82;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=12218;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26662774;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1135,249;ESP6500_AA_GTC=466,203,23;ESP6500_CDS_SIZES=NM_001039775.3:4986;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=62;ESP6500_EA_AC=2640,542;ESP6500_EA_GTC=1096,448,47;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039775.3:intron;ESP6500_GL=AIM1L;ESP6500_GRCh38_POSITION=1:26336283;ESP6500_GTC=1562,651,70;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039775.3:c.4071+55G>A;ESP6500_MAF=17.0333,17.9913,17.3237;ESP6500_TAC=3775,791	GT:AD:DP:GQ:PL	0/1:17,12:29:99:281,0,450
chr1	26336871	rs10751735	C	T	782.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.545;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.392;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10751735;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|11/20|c.3881G>A|p.Ser1294Asn|4031/5245|3881/4986|1294/1661||;p3_1000G_AA=C|||;p3_1000G_AC=2283;p3_1000G_AF=0.455871;p3_1000G_AFR_AF=0.6634;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=14391;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.5308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26663362;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2781,1623;ESP6500_AA_GTC=883,1015,304;ESP6500_CDS_SIZES=NM_001039775.3:4986;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=31;ESP6500_EA_AC=4510,4084;ESP6500_EA_GTC=1176,2158,963;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039775.3:missense;ESP6500_GL=AIM1L;ESP6500_GRCh38_POSITION=1:26336871;ESP6500_GS=46;ESP6500_GTC=2059,3173,1267;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039775.3:c.3881G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001039775.3:p.(S1294N);ESP6500_MAF=47.5215,36.8529,43.9068;ESP6500_PH=benign:0.001;ESP6500_TAC=7291,5707	GT:AD:DP:GQ:PL	0/1:27,27:54:99:811,0,768
chr1	26337891	rs187691141	C	T	464.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.052;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=2.45;SOR=1.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187691141;dbSNPBuildID=135;ANN=T|intron_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|8/19|c.3507+121G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=20;p3_1000G_AF=0.00399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17385;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26664382;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,19:37:99:493,0,433
chr1	26344261	rs11247923	C	T	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.419;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.91;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247923;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|2/20|c.2397G>A|p.Thr799Thr|2547/5245|2397/4986|799/1661||;p3_1000G_AA=T|||;p3_1000G_AC=1026;p3_1000G_AF=0.204872;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=17418;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26670752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,17:40:99:429,0,630
chr1	26344593	rs12562454	G	T	893.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.04;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.14;SOR=0.747;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12562454;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|2/20|c.2065C>A|p.Pro689Thr|2215/5245|2065/4986|689/1661||;p3_1000G_AA=G|||;p3_1000G_AC=906;p3_1000G_AF=0.180911;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=19623;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26671084;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2331;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,36:64:99:922,0,804
chr1	26344757	rs57268417	A	G	1224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.9;MQRankSum=-0.793;QD=17.01;ReadPosRankSum=-0.015;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57268417;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|2/20|c.1901T>C|p.Val634Ala|2051/5245|1901/4986|634/1661||;p3_1000G_AA=A|||;p3_1000G_AC=907;p3_1000G_AF=0.18111;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=20325;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26671248;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1253,0,757
chr1	26345583	rs116950975	T	C	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.023;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.665;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116950975;dbSNPBuildID=132;ANN=C|missense_variant|MODERATE|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|2/20|c.1075A>G|p.Thr359Ala|1225/5245|1075/4986|359/1661||;p3_1000G_AA=T|||;p3_1000G_AC=50;p3_1000G_AF=0.00998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16343;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26672074;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,17:29:99:442,0,319
chr1	26346585	rs11247924	G	A	990.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.988;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=5.039;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-1.416;SOR=1.343;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247924;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|2/20|c.73C>T|p.Arg25Trp|223/5245|73/4986|25/1661||;p3_1000G_AA=G|||;p3_1000G_AC=899;p3_1000G_AF=0.179513;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=15200;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.1918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26673076;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=524,3272;ESP6500_AA_GTC=33,458,1407;ESP6500_CDS_SIZES=NM_001039775.3:4986;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=14;ESP6500_EA_AC=1591,6607;ESP6500_EA_GTC=162,1267,2670;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039775.3:missense;ESP6500_GL=AIM1L;ESP6500_GRCh38_POSITION=1:26346585;ESP6500_GS=101;ESP6500_GTC=195,1725,4077;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039775.3:c.73C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001039775.3:p.(R25W);ESP6500_MAF=19.4072,13.804,17.6338;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=2115,9879	GT:AD:DP:GQ:PL	0/1:28,36:64:99:1019,0,745
chr1	26346617	rs11247925	C	T	656.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.647;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.451;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247925;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|2/20|c.41G>A|p.Arg14Gln|191/5245|41/4986|14/1661||;p3_1000G_AA=C|||;p3_1000G_AC=898;p3_1000G_AF=0.179313;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=16282;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.1918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26673108;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=533,3273;ESP6500_AA_GTC=35,463,1405;ESP6500_CDS_SIZES=NM_001039775.3:4986;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=10;ESP6500_EA_AC=1557,6629;ESP6500_EA_GTC=156,1245,2692;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039775.3:missense;ESP6500_GL=AIM1L;ESP6500_GRCh38_POSITION=1:26346617;ESP6500_GS=43;ESP6500_GTC=191,1708,4097;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039775.3:c.41G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001039775.3:p.(R14Q);ESP6500_MAF=19.0203,14.0042,17.4283;ESP6500_PH=possibly-damaging:0.708;ESP6500_TAC=2090,9902	GT:AD:DP:GQ:PL	0/1:24,25:49:99:685,0,654
chr1	26346729	rs11247926	A	G	600.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.537;SOR=1.236;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247926;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|AIM1L|AIM1L|transcript|NM_001039775.3|protein_coding|1/19|c.-55-17T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1053;p3_1000G_AF=0.210264;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=13634;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26673220;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,21:41:99:629,0,574
chr1	26367754	rs10794531	T	C	837.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.527;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-0.25;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10794531;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ZNF683|ZNF683|transcript|NM_001307925.1|protein_coding|3/7|c.158A>G|p.His53Arg|295/1729|158/1575|53/524||,C|missense_variant|MODERATE|ZNF683|ZNF683|transcript|NM_001114759.2|protein_coding|3/6|c.158A>G|p.His53Arg|298/1672|158/1515|53/504||,C|missense_variant|MODERATE|ZNF683|ZNF683|transcript|NM_173574.3|protein_coding|3/6|c.158A>G|p.His53Arg|295/1669|158/1515|53/504||;p3_1000G_AA=T|||;p3_1000G_AC=2469;p3_1000G_AF=0.493011;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=15405;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.2863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26694245;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2287,2119;ESP6500_AA_GTC=587,1113,503;ESP6500_CDS_SIZES=NM_173574.2:1515,NM_001114759.1:1515;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=26;ESP6500_EA_AC=2434,6160;ESP6500_EA_GTC=350,1734,2213;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173574.2:missense,NM_001114759.1:missense;ESP6500_GL=ZNF683;ESP6500_GRCh38_POSITION=1:26367754;ESP6500_GS=29,29;ESP6500_GTC=937,2847,2716;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173574.2:c.158A>G,NM_001114759.1:c.158A>G;ESP6500_HGVS_PROTEIN_VAR=NM_173574.2:p.(H53R),NM_001114759.1:p.(H53R);ESP6500_MAF=28.3221,48.0935,36.3154;ESP6500_PH=benign:0.014,benign:0.014;ESP6500_TAC=4721,8279	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,23:36:99:0|1:26367754_T_C:866,0,613
chr1	26367769	rs10794532	T	C	818.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.81;ReadPosRankSum=-1.085;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10794532;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ZNF683|ZNF683|transcript|NM_001307925.1|protein_coding|3/7|c.143A>G|p.Asp48Gly|280/1729|143/1575|48/524||,C|missense_variant|MODERATE|ZNF683|ZNF683|transcript|NM_001114759.2|protein_coding|3/6|c.143A>G|p.Asp48Gly|283/1672|143/1515|48/504||,C|missense_variant|MODERATE|ZNF683|ZNF683|transcript|NM_173574.3|protein_coding|3/6|c.143A>G|p.Asp48Gly|280/1669|143/1515|48/504||;p3_1000G_AA=T|||;p3_1000G_AC=1726;p3_1000G_AF=0.344649;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=15531;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26694260;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=960,3446;ESP6500_AA_GTC=101,758,1344;ESP6500_CDS_SIZES=NM_173574.2:1515,NM_001114759.1:1515;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=22;ESP6500_EA_AC=1621,6977;ESP6500_EA_GTC=155,1311,2833;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173574.2:missense,NM_001114759.1:missense;ESP6500_GL=ZNF683;ESP6500_GRCh38_POSITION=1:26367769;ESP6500_GS=94,94;ESP6500_GTC=256,2069,4177;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173574.2:c.143A>G,NM_001114759.1:c.143A>G;ESP6500_HGVS_PROTEIN_VAR=NM_173574.2:p.(D48G),NM_001114759.1:p.(D48G);ESP6500_MAF=18.8532,21.7885,19.8477;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=2581,10423	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,21:33:99:0|1:26367754_T_C:847,0,594
chr1	26372393	rs11247936	T	C	482.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.18;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.83;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.096;SOR=1.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247936;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001307925.1|protein_coding|1/6|c.-12+276A>G||||||,C|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001114759.2|protein_coding|1/5|c.-15+276A>G||||||,C|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_173574.3|protein_coding|1/5|c.-12+276A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1727;p3_1000G_AF=0.344848;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=20946;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26698884;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,16:33:99:511,0,433
chr1	26372447	rs6703878	A	G	862.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.44;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=4.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.83;SOR=1.413;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6703878;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001307925.1|protein_coding|1/6|c.-12+222T>C||||||,G|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001114759.2|protein_coding|1/5|c.-15+222T>C||||||,G|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_173574.3|protein_coding|1/5|c.-12+222T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2586;p3_1000G_AF=0.516374;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=20020;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.2873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26698938;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:35,29:64:99:891,0,951
chr1	26372612	rs11584185	T	C	1273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0.882;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.755;SOR=0.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11584185;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001307925.1|protein_coding|1/6|c.-12+57A>G||||||,C|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001114759.2|protein_coding|1/5|c.-15+57A>G||||||,C|intron_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_173574.3|protein_coding|1/5|c.-12+57A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2386;p3_1000G_AF=0.476438;p3_1000G_AFR_AF=0.5303;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=20360;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.2813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26699103;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1302,0,1160
chr1	26372666	rs11247937	T	C	706.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.9;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.75;MQRankSum=-0.084;QD=13.86;ReadPosRankSum=0.738;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11247937;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|ZNF683|ZNF683|transcript|NM_001307925.1|protein_coding|1/6|c.-12+3A>G||||||,C|splice_region_variant&intron_variant|LOW|ZNF683|ZNF683|transcript|NM_001114759.2|protein_coding|1/5|c.-15+3A>G||||||,C|splice_region_variant&intron_variant|LOW|ZNF683|ZNF683|transcript|NM_173574.3|protein_coding|1/5|c.-12+3A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2582;p3_1000G_AF=0.515575;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=22302;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26699157;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,24:51:99:735,0,708
chr1	26374140	rs12079255	A	G	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.272;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.842;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12079255;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001307925.1|protein_coding||c.-5569T>C|||||1346|,G|upstream_gene_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001114759.2|protein_coding||c.-5569T>C|||||1346|,G|upstream_gene_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_173574.3|protein_coding||c.-5569T>C|||||1346|,G|intergenic_region|MODIFIER|ZNF683-LIN28A|ZNF683-LIN28A|intergenic_region|ZNF683-LIN28A|||n.26374140A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1422;p3_1000G_AF=0.283946;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=16305;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26700631;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4008;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:110,0,135
chr1	26374304	rs7520030	T	C	2224.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7520030;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001307925.1|protein_coding||c.-5733A>G|||||1510|,C|upstream_gene_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_001114759.2|protein_coding||c.-5733A>G|||||1510|,C|upstream_gene_variant|MODIFIER|ZNF683|ZNF683|transcript|NM_173574.3|protein_coding||c.-5733A>G|||||1510|,C|intergenic_region|MODIFIER|ZNF683-LIN28A|ZNF683-LIN28A|intergenic_region|ZNF683-LIN28A|||n.26374304T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18302;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26700795;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2253,228,0
chr1	26426501	rs4659441	T	C	577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.7;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=3.09;SOR=0.356;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4659441;dbSNPBuildID=111;ANN=C|3_prime_UTR_variant|MODIFIER|LIN28A|LIN28A|transcript|NM_024674.5|protein_coding|4/4|c.*43T>C|||||43|;p3_1000G_AA=C|||;p3_1000G_AC=4223;p3_1000G_AF=0.843251;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.8718;p3_1000G_AN=5008;p3_1000G_DP=21133;p3_1000G_EAS_AF=0.8631;p3_1000G_EUR_AF=0.7843;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26752992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3744,652;ESP6500_AA_GTC=1596,552,50;ESP6500_CDS_SIZES=NM_024674.4:630;ESP6500_CG=-7.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=15;ESP6500_EA_AC=6887,1709;ESP6500_EA_GTC=2764,1359,175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024674.4:utr-3;ESP6500_GL=LIN28A;ESP6500_GRCh38_POSITION=1:26426501;ESP6500_GTC=4360,1911,225;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024674.4:c.*43T>C;ESP6500_MAF=19.8813,14.8317,18.1727;ESP6500_TAC=10631,2361	GT:AD:DP:GQ:PL	0/1:14,21:35:99:606,0,348
chr1	26446552	rs75210044	T	C	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.47;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=-1.036;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75210044;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_024887.3|protein_coding|5/8|c.440+120T>C||||||,C|intron_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_001243564.1|protein_coding|5/7|c.440+120T>C||||||,C|intron_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_001243565.1|protein_coding|4/7|c.324-1007T>C||||||,C|intron_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_001319959.1|protein_coding|5/8|c.161+120T>C||||||,C|intron_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_205861.2|protein_coding|5/8|c.440+120T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=176;p3_1000G_AF=0.0351438;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21543;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26773043;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:336,0,210
chr1	26460136	rs3816539;297075	G	A	434.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.435;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.33;SOR=0.894;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816539;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|DHDDS|DHDDS|transcript|NM_024887.3|protein_coding|8/9|c.757G>A|p.Val253Met|907/3328|757/1005|253/334||,A|missense_variant|MODERATE|DHDDS|DHDDS|transcript|NM_001243564.1|protein_coding|7/8|c.655G>A|p.Val219Met|805/3223|655/900|219/299||,A|missense_variant|MODERATE|DHDDS|DHDDS|transcript|NM_001243565.1|protein_coding|7/8|c.640G>A|p.Val214Met|790/3208|640/885|214/294||,A|missense_variant|MODERATE|DHDDS|DHDDS|transcript|NM_001319959.1|protein_coding|8/9|c.478G>A|p.Val160Met|930/3348|478/723|160/240||,A|missense_variant|MODERATE|DHDDS|DHDDS|transcript|NM_205861.2|protein_coding|8/9|c.757G>A|p.Val253Met|907/3325|757/1002|253/333||,A|downstream_gene_variant|MODIFIER|LOC101928324|LOC101928324|transcript|NR_125952.1|pseudogene||n.*2621C>T|||||2621|,A|downstream_gene_variant|MODIFIER|LOC101928324|LOC101928324|transcript|NR_125953.1|pseudogene||n.*2621C>T|||||2621|;p3_1000G_AA=G|||;p3_1000G_AC=2280;p3_1000G_AF=0.455272;p3_1000G_AFR_AF=0.4811;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=21309;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26786627;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1958,2448;ESP6500_AA_AGE=553.9+/-378.9;ESP6500_AA_GTC=436,1086,681;ESP6500_CDS_SIZES=NM_205861.2:1002,NM_024887.3:1005,NM_001243565.1:885,NM_001243564.1:900;ESP6500_CG=-1.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=101;ESP6500_EA_AC=1781,6819;ESP6500_EA_AGE=323.4+/-316.0;ESP6500_EA_GTC=183,1415,2702;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205861.2:missense,NM_024887.3:missense,NM_001243565.1:missense,NM_001243564.1:missense;ESP6500_GL=DHDDS;ESP6500_GRCh38_POSITION=1:26460136;ESP6500_GS=21,21,21,21;ESP6500_GTC=619,2501,3383;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_205861.2:c.757G>A,NM_024887.3:c.757G>A,NM_001243565.1:c.640G>A,NM_001243564.1:c.655G>A;ESP6500_HGVS_PROTEIN_VAR=NM_205861.2:p.(V253M),NM_024887.3:p.(V253M),NM_001243565.1:p.(V214M),NM_001243564.1:p.(V219M);ESP6500_MAF=20.7093,44.4394,28.7483;ESP6500_PH=benign:0.002,benign:0.002,benign:0.002,benign:0.002;ESP6500_TAC=3739,9267;CLINVAR_AF_ESP=0.2875;CLINVAR_AF_EXAC=0.31330;CLINVAR_AF_TGP=0.4553;CLINVAR_ALLELEID=280332;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.26460136G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1130|UniProtKB_(protein):Q86SQ9#VAR_028088;CLINVAR_GENEINFO=DHDDS:79947;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3816539	GT:AD:DP:GQ:PL	0/1:26,18:44:99:463,0,725
chr1	26474358	rs2445635	A	G	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-1.383;SOR=1.206;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2445635;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_024887.3|protein_coding||c.*5227A>G|||||3054|,G|downstream_gene_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_001243564.1|protein_coding||c.*5227A>G|||||3054|,G|downstream_gene_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_001243565.1|protein_coding||c.*5227A>G|||||3054|,G|downstream_gene_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_001319959.1|protein_coding||c.*5227A>G|||||3054|,G|downstream_gene_variant|MODIFIER|DHDDS|DHDDS|transcript|NM_205861.2|protein_coding||c.*5227A>G|||||3054|,G|intron_variant|MODIFIER|HMGN2|HMGN2|transcript|NM_005517.3|protein_coding|4/5|c.142-214A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2751;p3_1000G_AF=0.549321;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=19343;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26800849;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:202,0,127
chr1	26529971	rs11800553	T	G	58.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11800553;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|1/22|c.51T>G|p.Pro17Pro|214/3199|51/2208|17/735||;p3_1000G_AA=G|||;p3_1000G_AC=4691;p3_1000G_AF=0.936701;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=6031;p3_1000G_EAS_AF=0.9583;p3_1000G_EUR_AF=0.9553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26856462;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:86,9,0
chr1	26543119	rs921893	G	A	1101.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs921893;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding||c.-2782G>A|||||2733|,A|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|2/21|c.109-3748G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3631;p3_1000G_AF=0.72504;p3_1000G_AFR_AF=0.7231;p3_1000G_AMR_AF=0.634;p3_1000G_AN=5008;p3_1000G_DP=18392;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.7505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26869610;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1130,114,0
chr1	26544239	rs1466286	C	G	1307.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=0.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1466286;dbSNPBuildID=88;ANN=G|upstream_gene_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding||c.-1662C>G|||||1613|,G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|2/21|c.109-2628C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2544;p3_1000G_AF=0.507987;p3_1000G_AFR_AF=0.4962;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=20459;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.2853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26870730;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1336,123,0
chr1	26545855	rs71640330	C	T	202.94	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=-0.282;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71640330;dbSNPBuildID=130;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|1/21|c.-46C>T||||||,T|5_prime_UTR_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|1/21|c.-46C>T|||||46|,T|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|2/21|c.109-1012C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=337;p3_1000G_AF=0.0672923;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=16771;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26872346;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=117,3953;ESP6500_AA_GTC=1,115,1919;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=4;ESP6500_EA_AC=354,7710;ESP6500_EA_GTC=1,352,3679;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:intron,NM_001006665.1:utr-5;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26545855;ESP6500_GTC=2,467,5598;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.109-1012C>T,NM_001006665.1:c.-46C>T;ESP6500_MAF=4.3899,2.8747,3.8817;ESP6500_TAC=471,11663	GT:AD:DP:GQ:PL	0/1:1,8:9:14:231,0,14
chr1	26546063	rs12723936	A	G	828.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12723936;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|1/20|c.135+28A>G||||||,G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|2/21|c.109-804A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2532;p3_1000G_AF=0.505591;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=18614;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.2833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26872554;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1965,2441;ESP6500_AA_GTC=440,1085,678;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=19;ESP6500_EA_AC=2213,6385;ESP6500_EA_GTC=289,1635,2375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:intron,NM_001006665.1:intron;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26546063;ESP6500_GTC=729,2720,3053;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.109-804A>G,NM_001006665.1:c.135+28A>G;ESP6500_MAF=25.7385,44.5983,32.1286;ESP6500_TAC=4178,8826	GT:AD:DP:GQ:PL	1/1:0,26:26:78:857,78,0
chr1	26552885	rs7543005	T	C	609.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7543005;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|MIR1976|MIR1976|transcript|NR_031740.1|pseudogene||n.-1657T>C|||||1657|,C|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|5/20|c.496-506T>C||||||,C|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|6/21|c.469-506T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2551;p3_1000G_AF=0.509385;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=16929;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.2833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26879376;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:58:638,58,0
chr1	26553301	rs4970489	T	C	104.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.01;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970489;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|MIR1976|MIR1976|transcript|NR_031740.1|pseudogene||n.-1241T>C|||||1241|,C|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|5/20|c.496-90T>C||||||,C|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|6/21|c.469-90T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3620;p3_1000G_AF=0.722843;p3_1000G_AFR_AF=0.7269;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=19382;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.7416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26879792;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:132,12,0
chr1	26553429	rs4970490	T	C	693.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.53;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970490;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|6/21|c.534T>C|p.Ala178Ala|583/3112|534/2235|178/744||,C|synonymous_variant|LOW|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|7/22|c.507T>C|p.Ala169Ala|670/3199|507/2208|169/735||,C|upstream_gene_variant|MODIFIER|MIR1976|MIR1976|transcript|NR_031740.1|pseudogene||n.-1113T>C|||||1113|;p3_1000G_AA=C|||;p3_1000G_AC=4964;p3_1000G_AF=0.991214;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17536;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26879920;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4302,104;ESP6500_AA_AGE=82.4+/-120.9;ESP6500_AA_GTC=2100,102,1;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=-8.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=122;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:coding-synonymous,NM_001006665.1:coding-synonymous;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26553429;ESP6500_GTC=6399,103,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.507T>C,NM_001006665.1:c.534T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002953.3:p.(A169),NM_001006665.1:p.(A178);ESP6500_MAF=0.0116,2.3604,0.8073;ESP6500_TAC=12901,105	GT:AD:DP:GQ:PL	1/1:0,22:22:66:722,66,0
chr1	26554498	rs873151	T	C	846.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.24;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs873151;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|MIR1976|MIR1976|transcript|NR_031740.1|pseudogene||n.-44T>C|||||44|,C|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|7/20|c.641-98T>C||||||,C|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|8/21|c.614-98T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2302;p3_1000G_AF=0.459665;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=19779;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.2843;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26880989;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=407,977;ESP6500_AA_GTC=56,295,341;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=27;ESP6500_EA_AC=835,2347;ESP6500_EA_GTC=104,627,860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:intron,NM_001006665.1:intron;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26554498;ESP6500_GTC=160,922,1201;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.614-98T>C,NM_001006665.1:c.641-98T>C;ESP6500_MAF=26.2414,29.4075,27.2011;ESP6500_TAC=1242,3324	GT:AD:DP:GQ:PL	1/1:0,24:24:72:875,72,0
chr1	26555315	rs897641	C	A	521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs897641;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|MIR1976|MIR1976|transcript|NR_031740.1|pseudogene||n.*722C>A|||||722|,A|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|9/20|c.854+94C>A||||||,A|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|10/21|c.827+94C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2553;p3_1000G_AF=0.509784;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=16412;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26881806;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:550,45,0
chr1	26560659	rs34062688	A	G	1090.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.09;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34062688;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|13/20|c.1243-67A>G||||||,G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|14/21|c.1216-67A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2561;p3_1000G_AF=0.511382;p3_1000G_AFR_AF=0.5083;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=20092;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.2883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26887150;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1119,96,0
chr1	26561101	rs1064196	T	C	2633.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.35;SOR=0.843;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1064196;dbSNPBuildID=86;ANN=C|structural_interaction_variant|HIGH|RPS6KA1|RPS6KA1|interaction|3RNY:B_466-B_563:NM_002953.3|protein_coding|16/22|c.1398T>C||||||,C|structural_interaction_variant|HIGH|RPS6KA1|RPS6KA1|interaction|4NIF:A_466-A_563:NM_002953.3|protein_coding|16/22|c.1398T>C||||||,C|structural_interaction_variant|HIGH|RPS6KA1|RPS6KA1|interaction|4NIF:D_466-D_563:NM_002953.3|protein_coding|16/22|c.1398T>C||||||,C|synonymous_variant|LOW|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|15/21|c.1425T>C|p.Tyr475Tyr|1474/3112|1425/2235|475/744||,C|synonymous_variant|LOW|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|16/22|c.1398T>C|p.Tyr466Tyr|1561/3199|1398/2208|466/735||;p3_1000G_AA=C|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=20757;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.2903;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26887592;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2037,2369;ESP6500_AA_AGE=610.8+/-391.6;ESP6500_AA_GTC=467,1103,633;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=-6.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=77;ESP6500_EA_AC=2263,6337;ESP6500_EA_AGE=707.5+/-405.6;ESP6500_EA_GTC=299,1665,2336;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:coding-synonymous,NM_001006665.1:coding-synonymous;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26561101;ESP6500_GTC=766,2768,2969;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.1398T>C,NM_001006665.1:c.1425T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002953.3:p.(Y466),NM_001006665.1:p.(Y475);ESP6500_MAF=26.314,46.2324,33.0617;ESP6500_TAC=4300,8706	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2662,252,0
chr1	26571499	rs11546000	C	T	495.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.477;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.943;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11546000;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|17/21|c.1668C>T|p.Ser556Ser|1717/3112|1668/2235|556/744||,T|synonymous_variant|LOW|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|18/22|c.1641C>T|p.Ser547Ser|1804/3199|1641/2208|547/735||;p3_1000G_AA=C|||;p3_1000G_AC=61;p3_1000G_AF=0.0121805;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16484;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26897990;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4,4402;ESP6500_AA_AGE=8.1+/-20.4;ESP6500_AA_GTC=0,4,2199;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=-8.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=80;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:coding-synonymous,NM_001006665.1:coding-synonymous;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26571499;ESP6500_GTC=0,4,6499;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.1641C>T,NM_001006665.1:c.1668C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002953.3:p.(S547),NM_001006665.1:p.(S556);ESP6500_MAF=0.0,0.0908,0.0308;ESP6500_TAC=4,13002	GT:AD:DP:GQ:PL	0/1:14,19:33:99:524,0,358
chr1	26571651	rs188158	A	G	1284.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs188158;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|17/20|c.1779+41A>G||||||,G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|18/21|c.1752+41A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2697;p3_1000G_AF=0.538538;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=16013;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.2932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26898142;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6564;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2246,2160;ESP6500_AA_AGE=561.9+/-380.8;ESP6500_AA_GTC=592,1062,549;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=27;ESP6500_EA_AC=2285,6313;ESP6500_EA_AGE=358.0+/-331.0;ESP6500_EA_GTC=305,1675,2319;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:intron,NM_001006665.1:intron;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26571651;ESP6500_GTC=897,2737,2868;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.1752+41A>G,NM_001006665.1:c.1779+41A>G;ESP6500_MAF=26.5759,49.0241,34.8431;ESP6500_TAC=4531,8473	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1313,111,0
chr1	26573180	rs2296399	C	G	433.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=2.46;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296399;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|19/20|c.1975-44C>G||||||,G|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|20/21|c.1948-44C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=963;p3_1000G_AF=0.192292;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=18301;p3_1000G_EAS_AF=0.2847;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26899671;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=592,3814;ESP6500_AA_AGE=248.1+/-256.1;ESP6500_AA_GTC=34,524,1645;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=992,7608;ESP6500_EA_AGE=202.7+/-245.9;ESP6500_EA_GTC=50,892,3358;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:intron,NM_001006665.1:intron;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26573180;ESP6500_GTC=84,1416,5003;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.1948-44C>G,NM_001006665.1:c.1975-44C>G;ESP6500_MAF=11.5349,13.4362,12.179;ESP6500_TAC=1584,11422	GT:AD:DP:GQ:PL	0/1:11,15:26:99:462,0,271
chr1	26573196	rs282178	C	A	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.657;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.746;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs282178;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|19/20|c.1975-28C>A||||||,A|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|20/21|c.1948-28C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1648;p3_1000G_AF=0.329073;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=18564;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.2286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26899687;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1275,3131;ESP6500_AA_AGE=700.6+/-406.6;ESP6500_AA_GTC=181,913,1109;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=63;ESP6500_EA_AC=1970,6630;ESP6500_EA_AGE=722.7+/-406.4;ESP6500_EA_GTC=239,1492,2569;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:intron,NM_001006665.1:intron;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26573196;ESP6500_GTC=420,2405,3678;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.1948-28C>A,NM_001006665.1:c.1975-28C>A;ESP6500_MAF=22.907,28.9378,24.95;ESP6500_TAC=3245,9761	GT:AD:DP:GQ:PL	0/1:17,14:31:99:318,0,469
chr1	26573937	rs34694705;rs397979724;rs754365430	C	CA	42.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=-0.842;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34694705;dbSNPBuildID=144,126,138;ANN=CA|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|20/20|c.2113-129dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|21/21|c.2086-129dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,2:6:80:80,0,81
chr1	26574244	rs282179	C	G	1250.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.74;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs282179;dbSNPBuildID=79;ANN=G|3_prime_UTR_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_001006665.1|protein_coding|21/21|c.*43C>G|||||43|,G|3_prime_UTR_variant|MODIFIER|RPS6KA1|RPS6KA1|transcript|NM_002953.3|protein_coding|22/22|c.*43C>G|||||43|;p3_1000G_AA=G|||;p3_1000G_AC=3936;p3_1000G_AF=0.785942;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=16646;p3_1000G_EAS_AF=0.8492;p3_1000G_EUR_AF=0.7783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26900735;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3311,1095;ESP6500_AA_AGE=393.3+/-328.8;ESP6500_AA_GTC=1243,825,135;ESP6500_CDS_SIZES=NM_002953.3:2208,NM_001006665.1:2235;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=51;ESP6500_EA_AC=6537,2063;ESP6500_EA_AGE=358.4+/-331.1;ESP6500_EA_GTC=2488,1561,251;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002953.3:utr-3,NM_001006665.1:utr-3;ESP6500_GL=RPS6KA1;ESP6500_GRCh38_POSITION=1:26574244;ESP6500_GTC=3731,2386,386;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002953.3:c.*43C>G,NM_001006665.1:c.*43C>G;ESP6500_MAF=23.9884,24.8525,24.2811;ESP6500_TAC=9848,3158	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1279,108,0
chr1	26696769	rs368937545	C	T	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.21;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.484;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=-1.456;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368937545;dbSNPBuildID=138;ANN=T|synonymous_variant|LOW|ARID1A|ARID1A|transcript|NM_006015.4|protein_coding|1/20|c.366C>T|p.Gly122Gly|739/8585|366/6858|122/2285||,T|synonymous_variant|LOW|ARID1A|ARID1A|transcript|NM_139135.2|protein_coding|1/20|c.366C>T|p.Gly122Gly|739/7934|366/6207|122/2068||,T|upstream_gene_variant|MODIFIER|LOC101928728|LOC101928728|transcript|NR_135804.1|pseudogene||n.-2638G>A|||||2638|	GT:AD:DP:GQ:PL	0/1:6,16:22:83:432,0,83
chr1	26773690	rs374564889	CGCA	C	51.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.843;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.23;SOR=0.623;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs374564889;dbSNPBuildID=138;ANN=C|disruptive_inframe_deletion|MODERATE|ARID1A|ARID1A|transcript|NM_006015.4|protein_coding|16/20|c.3999_4001delGCA|p.Gln1334del|4372/8585|3999/6858|1333/2285||INFO_REALIGN_3_PRIME,C|disruptive_inframe_deletion|MODERATE|ARID1A|ARID1A|transcript|NM_139135.2|protein_coding|16/20|c.3999_4001delGCA|p.Gln1334del|4372/7934|3999/6207|1333/2068||INFO_REALIGN_3_PRIME,C|sequence_feature|MODERATE|ARID1A|ARID1A|compositionally-biased-region:Gln-rich|NM_006015.4|protein_coding|16/20|c.3978_3980delGCA||||||	GT:AD:DP:GQ:PL	0/1:66,7:73:89:89,0,2793
chr1	26884230	rs3170660	T	C	1271.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=0.883;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3170660;dbSNPBuildID=105;ANN=C|missense_variant|MODERATE|GPN2|GPN2|transcript|NM_018066.3|protein_coding|4/5|c.790A>G|p.Arg264Gly|1072/1510|790/933|264/310||;p3_1000G_AA=C|||;p3_1000G_AC=4373;p3_1000G_AF=0.873203;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=18986;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.6292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27210721;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4040,366;ESP6500_AA_AGE=185.7+/-212.7;ESP6500_AA_GTC=1860,320,23;ESP6500_CDS_SIZES=NM_018066.3:933;ESP6500_CG=5.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=80;ESP6500_EA_AC=5388,3212;ESP6500_EA_AGE=484.5+/-371.4;ESP6500_EA_GTC=1683,2022,595;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018066.3:missense;ESP6500_GL=GPN2;ESP6500_GRCh38_POSITION=1:26884230;ESP6500_GS=125;ESP6500_GTC=3543,2342,618;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018066.3:c.790A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018066.3:p.(R264G);ESP6500_MAF=37.3488,8.3069,27.5104;ESP6500_PH=benign:0.0;ESP6500_TAC=9428,3578	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1300,126,0
chr1	26885884	.	A	G	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.03;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.506;SOR=1.445;SNP;HET;VARTYPE=SNP;ANN=G|downstream_gene_variant|MODIFIER|GPATCH3|GPATCH3|transcript|NM_022078.2|protein_coding||c.*5126T>C|||||4604|,G|intron_variant|MODIFIER|GPN2|GPN2|transcript|NM_018066.3|protein_coding|3/4|c.729+89T>C||||||	GT:AD:DP:GQ:PL	0/1:10,8:18:99:285,0,327
chr1	26993865	rs6689941	T	C	647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.91;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6689941;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|TRNP1|TRNP1|transcript|NM_001013642.2|protein_coding|1/2|c.79T>C|p.Trp27Arg|162/1949|79/684|27/227||;p3_1000G_AA=t|||;p3_1000G_AC=4918;p3_1000G_AF=0.982029;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=5184;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27320356;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA_AC=1872,78;ESP6500_AA_GTC=897,78,0;ESP6500_CDS_SIZES=NM_001013642.2:684;ESP6500_CG=0.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=3;ESP6500_EA_AC=4889,5;ESP6500_EA_GTC=2442,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013642.2:missense;ESP6500_GL=TRNP1;ESP6500_GRCh38_POSITION=1:26993865;ESP6500_GS=101;ESP6500_GTC=3339,83,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001013642.2:c.79T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001013642.2:p.(W27R);ESP6500_MAF=0.1022,4.0,1.2127;ESP6500_PH=benign:0.0;ESP6500_TAC=6761,83	GT:AD:DP:GQ:PL	1/1:0,25:25:75:676,75,0
chr1	27012612	rs4970471	G	T	307.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4970471;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|FAM46B|FAM46B|transcript|NM_052943.3|protein_coding|1/2|c.59C>A|p.Thr20Lys|231/2374|59/1278|20/425||;p3_1000G_AA=G|||;p3_1000G_AC=1682;p3_1000G_AF=0.335863;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=10818;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27339103;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:336,27,0
chr1	27065227	rs1433060979	G	A	12.15	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.82;MQRankSum=0.967;QD=4.05;ReadPosRankSum=0.967;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|FAM46B-SLC9A1|FAM46B-SLC9A1|intergenic_region|FAM46B-SLC9A1|||n.27065227G>A||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:16:40,0,16
chr1	27065242	rs1416310770	T	G	52.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.82;MQRankSum=0.967;QD=17.63;ReadPosRankSum=0.967;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|FAM46B-SLC9A1|FAM46B-SLC9A1|intergenic_region|FAM46B-SLC9A1|||n.27065242T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,2:3:16:0|1:27065242_T_G:81,0,16
chr1	27065244	rs1327358015	T	C	52.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35;QD=26.44;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|FAM46B-SLC9A1|FAM46B-SLC9A1|intergenic_region|FAM46B-SLC9A1|||n.27065244T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:0,2:2:16:0|1:27065242_T_G:81,0,16
chr1	27100305	rs4266911	T	C	716.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4266911;dbSNPBuildID=111;ANN=C|3_prime_UTR_variant|MODIFIER|SLC9A1|SLC9A1|transcript|NM_003047.4|protein_coding|12/12|c.*2A>G|||||2|,C|non_coding_transcript_exon_variant|MODIFIER|SLC9A1|SLC9A1|transcript|NR_046474.1|pseudogene|11/11|n.2785A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=4945;p3_1000G_AF=0.98742;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=14663;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27426796;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA_AC=4362,44;ESP6500_AA_GTC=2159,44,0;ESP6500_CDS_SIZES=NM_003047.4:2448;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=24;ESP6500_EA_AC=8249,347;ESP6500_EA_GTC=3959,331,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003047.4:utr-3;ESP6500_GL=SLC9A1;ESP6500_GRCh38_POSITION=1:27100305;ESP6500_GTC=6118,375,8;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003047.4:c.*2A>G;ESP6500_MAF=4.0368,0.9986,3.0072;ESP6500_TAC=12611,391	GT:AD:DP:GQ:PL	1/1:0,22:22:66:745,66,0
chr1	27100550	rs4418629	T	C	2582.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4418629;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|SLC9A1|SLC9A1|transcript|NM_003047.4|protein_coding|12/12|c.2205A>G|p.Glu735Glu|3001/4742|2205/2448|735/815||,C|non_coding_transcript_exon_variant|MODIFIER|SLC9A1|SLC9A1|transcript|NR_046474.1|pseudogene|11/11|n.2540A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4954;p3_1000G_AF=0.989217;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=17830;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27427041;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4378,28;ESP6500_AA_AGE=34.3+/-65.2;ESP6500_AA_GTC=2175,28,0;ESP6500_CDS_SIZES=NM_003047.4:2448;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=228;ESP6500_EA_AC=8255,345;ESP6500_EA_AGE=118.1+/-177.6;ESP6500_EA_GTC=3963,329,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003047.4:coding-synonymous;ESP6500_GL=SLC9A1;ESP6500_GRCh38_POSITION=1:27100550;ESP6500_GTC=6138,357,8;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003047.4:c.2205A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003047.4:p.(E735);ESP6500_MAF=4.0116,0.6355,2.8679;ESP6500_TAC=12633,373	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2611,237,0
chr1	27283489	rs6670124	T	G	2625.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.02;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6670124;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|WDTC1|WDTC1|transcript|NM_001276252.1|protein_coding|5/15|c.291+40T>G||||||,G|intron_variant|MODIFIER|WDTC1|WDTC1|transcript|NM_015023.4|protein_coding|5/15|c.291+40T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4897;p3_1000G_AF=0.977835;p3_1000G_AFR_AF=0.9221;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=19563;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27609980;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4109,295;ESP6500_AA_GTC=1918,273,11;ESP6500_CDS_SIZES=NM_015023.3:2031;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=28;ESP6500_EA_AC=8588,10;ESP6500_EA_GTC=4289,10,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015023.3:intron;ESP6500_GL=WDTC1;ESP6500_GRCh38_POSITION=1:27283489;ESP6500_GTC=6207,283,11;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015023.3:c.291+40T>G;ESP6500_MAF=0.1163,6.6985,2.3458;ESP6500_TAC=12697,305	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2654,240,0
chr1	27333474	rs6687283	C	T	1180.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=2.613;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6687283;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TMEM222|TMEM222|transcript|NM_032125.2|protein_coding|3/5|c.312-484C>T||||||,T|intron_variant|MODIFIER|TMEM222|TMEM222|transcript|NR_037576.1|pseudogene|4/6|n.518-484C>T||||||,T|intron_variant|MODIFIER|TMEM222|TMEM222|transcript|NR_037577.1|pseudogene|3/6|n.365-484C>T||||||,T|intron_variant|MODIFIER|TMEM222|TMEM222|transcript|NR_037580.1|pseudogene|4/7|n.518-484C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=4843;p3_1000G_AF=0.967053;p3_1000G_AFR_AF=0.885;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=19982;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27659965;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1209,117,0
chr1	27356286	rs552404628	G	A	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.3;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.056;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|downstream_gene_variant|MODIFIER|SYTL1|SYTL1|transcript|NM_001193308.1|protein_coding||c.*2434G>A|||||2354|,A|downstream_gene_variant|MODIFIER|SYTL1|SYTL1|transcript|NM_032872.2|protein_coding||c.*2434G>A|||||2354|,A|intron_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_004672.4|protein_coding|26/28|c.3637+102C>T||||||,A|intron_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_001297609.1|protein_coding|25/27|c.3613+102C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20640;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27682777;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:208,0,258
chr1	27357905	rs4970520	G	A	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=0.21;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4970520;dbSNPBuildID=111;ANN=A|downstream_gene_variant|MODIFIER|SYTL1|SYTL1|transcript|NM_001193308.1|protein_coding||c.*4053G>A|||||3973|,A|downstream_gene_variant|MODIFIER|SYTL1|SYTL1|transcript|NM_032872.2|protein_coding||c.*4053G>A|||||3973|,A|intron_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_004672.4|protein_coding|21/28|c.2916-29C>T||||||,A|intron_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_001297609.1|protein_coding|20/27|c.2892-29C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1303;p3_1000G_AF=0.260184;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=16082;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.1968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27684396;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=382,3948;ESP6500_AA_GTC=19,344,1802;ESP6500_CDS_SIZES=NM_004672.3:3867;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=7;ESP6500_EA_AC=1566,6936;ESP6500_EA_GTC=146,1274,2831;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004672.3:intron;ESP6500_GL=MAP3K6;ESP6500_GRCh38_POSITION=1:27357905;ESP6500_GTC=165,1618,4633;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004672.3:c.2916-29C>T;ESP6500_MAF=18.4192,8.8222,15.1808;ESP6500_TAC=1948,10884	GT:AD:DP:GQ:PL	0/1:6,3:9:91:91,0,222
chr1	27359572	rs7521552	G	C	2536.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7521552;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_004672.4|protein_coding|17/28|c.2320-50C>G||||||,C|intron_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_001297609.1|protein_coding|16/27|c.2296-50C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4948;p3_1000G_AF=0.988019;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=18564;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27686063;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4251,155;ESP6500_AA_AGE=105.6+/-144.1;ESP6500_AA_GTC=2053,145,5;ESP6500_CDS_SIZES=NM_004672.3:3867;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=45;ESP6500_EA_AC=8566,34;ESP6500_EA_AGE=22.8+/-68.1;ESP6500_EA_GTC=4266,34,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004672.3:intron;ESP6500_GL=MAP3K6;ESP6500_GRCh38_POSITION=1:27359572;ESP6500_GTC=6319,179,5;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004672.3:c.2320-50C>G;ESP6500_MAF=0.3953,3.5179,1.4532;ESP6500_TAC=12817,189	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2565,225,0
chr1	27360875	rs35733093	C	G	1194.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35733093;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_004672.4|protein_coding|14/28|c.1921-37G>C||||||,G|intron_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_001297609.1|protein_coding|13/27|c.1897-37G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=11570;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.3787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27687366;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=610,3784;ESP6500_AA_GTC=48,514,1635;ESP6500_CDS_SIZES=NM_004672.3:3867;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=20;ESP6500_EA_AC=2857,5733;ESP6500_EA_GTC=517,1823,1955;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004672.3:intron;ESP6500_GL=MAP3K6;ESP6500_GRCh38_POSITION=1:27360875;ESP6500_GTC=565,2337,3590;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004672.3:c.1921-37G>C;ESP6500_MAF=33.2596,13.8826,26.7021;ESP6500_TAC=3467,9517	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1223,105,0
chr1	27362142	rs1138294	G	A	2450.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1138294;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|MAP3K6|MAP3K6|transcript|NM_004672.4|protein_coding|9/29|c.1364C>T|p.Thr455Ile|1633/4348|1364/3867|455/1288||,A|missense_variant|MODERATE|MAP3K6|MAP3K6|transcript|NM_001297609.1|protein_coding|8/28|c.1340C>T|p.Thr447Ile|1609/4324|1340/3843|447/1280||;p3_1000G_AA=G|||;p3_1000G_AC=1555;p3_1000G_AF=0.310503;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=20741;p3_1000G_EAS_AF=0.5397;p3_1000G_EUR_AF=0.3777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27688633;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=649,3757;ESP6500_AA_AGE=269.2+/-268.9;ESP6500_AA_GTC=44,561,1598;ESP6500_CDS_SIZES=NM_004672.3:3867;ESP6500_CG=-1.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=42;ESP6500_EA_AC=3016,5584;ESP6500_EA_AGE=454.1+/-363.4;ESP6500_EA_GTC=543,1930,1827;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004672.3:missense;ESP6500_GL=MAP3K6;ESP6500_GRCh38_POSITION=1:27362142;ESP6500_GS=89;ESP6500_GTC=587,2491,3425;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004672.3:c.1364C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004672.3:p.(T455I);ESP6500_MAF=35.0698,14.7299,28.1793;ESP6500_PH=benign:0.0;ESP6500_TAC=3665,9341	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2479,227,0
chr1	27369520	rs10218730	C	T	1051.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10218730;dbSNPBuildID=119;ANN=T|upstream_gene_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_004672.4|protein_coding||c.-2923G>A|||||2654|,T|upstream_gene_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_001297609.1|protein_coding||c.-2923G>A|||||2654|,T|intron_variant|MODIFIER|FCN3|FCN3|transcript|NM_003665.3|protein_coding|7/7|c.659-43G>A||||||,T|intron_variant|MODIFIER|FCN3|FCN3|transcript|NM_173452.2|protein_coding|6/6|c.626-43G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20623;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27696011;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4304,102;ESP6500_AA_AGE=77.8+/-116.1;ESP6500_AA_GTC=2103,98,2;ESP6500_CDS_SIZES=NM_173452.1:867,NM_003665.2:900;ESP6500_CG=2.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=27;ESP6500_EA_AC=8596,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4297,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173452.1:intron,NM_003665.2:intron;ESP6500_GL=FCN3;ESP6500_GRCh38_POSITION=1:27369520;ESP6500_GTC=6400,100,2;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173452.1:c.626-43G>A,NM_003665.2:c.659-43G>A;ESP6500_MAF=0.0233,2.315,0.7998;ESP6500_TAC=12900,104	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1080,101,0
chr1	27370983	rs3813800	G	C	800.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.189;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.142;SOR=0.655;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813800;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_004672.4|protein_coding||c.-4386C>G|||||4117|,C|upstream_gene_variant|MODIFIER|MAP3K6|MAP3K6|transcript|NM_001297609.1|protein_coding||c.-4386C>G|||||4117|,C|intron_variant|MODIFIER|FCN3|FCN3|transcript|NM_003665.3|protein_coding|5/7|c.394-11C>G||||||,C|intron_variant|MODIFIER|FCN3|FCN3|transcript|NM_173452.2|protein_coding|4/6|c.361-11C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=575;p3_1000G_AF=0.114816;p3_1000G_AFR_AF=0.0976;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=15258;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27697474;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=335,4063;ESP6500_AA_GTC=16,303,1880;ESP6500_CDS_SIZES=NM_173452.1:867,NM_003665.2:900;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=37;ESP6500_EA_AC=4,8594;ESP6500_EA_GTC=0,4,4295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173452.1:intron,NM_003665.2:intron;ESP6500_GL=FCN3;ESP6500_GRCh38_POSITION=1:27370983;ESP6500_GTC=16,307,6175;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_173452.1:c.361-11C>G,NM_003665.2:c.394-11C>G;ESP6500_MAF=0.0465,7.6171,2.6085;ESP6500_TAC=339,12657	GT:AD:DP:GQ:PL	0/1:24,31:55:99:829,0,575
chr1	27379425	rs2273269	C	T	192.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.54;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273269;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|CD164L2|CD164L2|transcript|NM_207397.3|protein_coding|5/5|c.*622G>A|||||622|,T|upstream_gene_variant|MODIFIER|FCN3|FCN3|transcript|NM_003665.3|protein_coding||c.-4607G>A|||||4573|,T|upstream_gene_variant|MODIFIER|FCN3|FCN3|transcript|NM_173452.2|protein_coding||c.-4607G>A|||||4573|;p3_1000G_AA=C|||;p3_1000G_AC=902;p3_1000G_AF=0.180112;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=16822;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27705915;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:221,21,0
chr1	27380011	rs2504777	A	G	1055.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|CD164L2|CD164L2|transcript|NM_207397.3|protein_coding|5/5|c.*36T>C|||||36|;p3_1000G_AA=G|||;p3_1000G_AC=4943;p3_1000G_AF=0.9870208;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=20393;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=1.0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=27706501;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1084,96,0
chr1	27382554	rs2474297	C	T	1516.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=2.746;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|CD164L2|CD164L2|transcript|NM_207397.3|protein_coding|2/5|c.202G>A|p.Gly68Arg|296/1563|202/522|68/173||;p3_1000G_AA=T|||;p3_1000G_AC=4897;p3_1000G_AF=0.9778355;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=12192;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=1.0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=27709044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1545,152,0
chr1	27409984	rs2273270	T	C	664.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273270;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|WASF2|WASF2|transcript|NM_006990.4|protein_coding|8/9|c.1047A>G|p.Pro349Pro|1292/5705|1047/1497|349/498||,C|intron_variant|MODIFIER|WASF2|WASF2|transcript|NM_001201404.2|protein_coding|7/7|c.825-1638A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=733;p3_1000G_AF=0.146366;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=12930;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27736478;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=260,4146;ESP6500_AA_AGE=150.3+/-184.3;ESP6500_AA_GTC=4,252,1947;ESP6500_CDS_SIZES=NM_006990.3:1497,NM_001201404.1:846;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=108;ESP6500_EA_AC=9,8591;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=0,9,4291;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006990.3:coding-synonymous,NM_001201404.1:intron;ESP6500_GL=WASF2;ESP6500_GRCh38_POSITION=1:27409984;ESP6500_GTC=4,261,6238;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006990.3:c.1047A>G,NM_001201404.1:c.825-1638A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006990.3:p.(P349),.;ESP6500_MAF=0.1047,5.901,2.0683;ESP6500_TAC=269,12737	GT:AD:DP:GQ:PL	1/1:0,19:19:57:693,57,0
chr1	27428997	rs181464062	G	C	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs181464062;dbSNPBuildID=135;ANN=C|intron_variant|MODIFIER|WASF2|WASF2|transcript|NM_006990.4|protein_coding|1/8|c.-43-64C>G||||||,C|intron_variant|MODIFIER|WASF2|WASF2|transcript|NM_001201404.2|protein_coding|1/7|c.-43-64C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16607;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27755507;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:55:0|1:27428997_G_C:55,0,324
chr1	27429001	rs201541202	CT	C	17.8	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.589;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-0.549;SOR=0.551;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201541202;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|WASF2|WASF2|transcript|NM_006990.4|protein_coding|1/8|c.-43-69delA||||||,C|intron_variant|MODIFIER|WASF2|WASF2|transcript|NM_001201404.2|protein_coding|1/7|c.-43-69delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1721;p3_1000G_AF=0.34365;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=19332;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.3549;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27755511;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,2:9:55:0|1:27428997_G_C:55,0,324
chr1	27479079	.	G	T	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|WASF2|WASF2|transcript|NM_006990.4|protein_coding|1/8|c.-44+10907C>A||||||,T|intron_variant|MODIFIER|WASF2|WASF2|transcript|NM_001201404.2|protein_coding|1/7|c.-44+10907C>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	27549313	rs4908364	C	T	1033.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4908364;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|AHDC1|AHDC1|transcript|NM_001029882.3|protein_coding|6/7|c.2803G>A|p.Ala935Thr|3634/6358|2803/4812|935/1603||;p3_1000G_AA=T|||;p3_1000G_AC=4998;p3_1000G_AF=0.998003;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=13969;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9911;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27875824;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4397,9;ESP6500_AA_AGE=14.3+/-33.2;ESP6500_AA_GTC=2194,9,0;ESP6500_CDS_SIZES=NM_001029882.2:4812;ESP6500_CG=-2.1;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=49;ESP6500_EA_AC=8543,57;ESP6500_EA_AGE=34.8+/-89.0;ESP6500_EA_GTC=4244,55,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001029882.2:missense;ESP6500_GL=AHDC1;ESP6500_GRCh38_POSITION=1:27549313;ESP6500_GS=58;ESP6500_GTC=6438,64,1;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029882.2:c.2803G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001029882.2:p.(A935T);ESP6500_MAF=0.6628,0.2043,0.5075;ESP6500_PH=benign:0.0;ESP6500_TAC=12940,66	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1062,102,0
chr1	27549971	rs2076457	C	A	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=0.314;SOR=0.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076457;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|AHDC1|AHDC1|transcript|NM_001029882.3|protein_coding|6/7|c.2145G>T|p.Pro715Pro|2976/6358|2145/4812|715/1603||;p3_1000G_AA=A|||;p3_1000G_AC=3971;p3_1000G_AF=0.792931;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=15067;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.6193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27876482;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4048,354;ESP6500_AA_GTC=1864,320,17;ESP6500_CDS_SIZES=NM_001029882.2:4812;ESP6500_CG=-8.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=22;ESP6500_EA_AC=5273,3327;ESP6500_EA_GTC=1605,2063,632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029882.2:coding-synonymous;ESP6500_GL=AHDC1;ESP6500_GRCh38_POSITION=1:27549971;ESP6500_GTC=3469,2383,649;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029882.2:c.2145G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001029882.2:p.(P715);ESP6500_MAF=38.686,8.0418,28.311;ESP6500_TAC=9321,3681	GT:AD:DP:GQ:PL	0/1:15,9:24:99:206,0,292
chr1	27668566	rs56015130	G	T	409.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56015130;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|IFI6|IFI6|transcript|NM_022873.2|protein_coding|2/4|c.95-31C>A||||||,T|intron_variant|MODIFIER|IFI6|IFI6|transcript|NM_002038.3|protein_coding|2/4|c.71-31C>A||||||,T|intron_variant|MODIFIER|IFI6|IFI6|transcript|NM_022872.2|protein_coding|2/4|c.83-31C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3728;p3_1000G_AF=0.744409;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=15441;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.9751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27995077;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2278,2084;ESP6500_AA_GTC=584,1110,487;ESP6500_CDS_SIZES=NM_022873.2:417,NM_022872.2:405,NM_002038.3:393;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=8;ESP6500_EA_AC=8284,256;ESP6500_EA_GTC=4022,240,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022873.2:intron,NM_022872.2:intron,NM_002038.3:intron;ESP6500_GL=IFI6;ESP6500_GRCh38_POSITION=1:27668566;ESP6500_GTC=4606,1350,495;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_022873.2:c.95-31C>A,NM_022872.2:c.83-31C>A,NM_002038.3:c.71-31C>A;ESP6500_MAF=2.9977,47.7762,18.1367;ESP6500_TAC=10562,2340	GT:AD:DP:GQ:PL	1/1:0,13:13:39:438,39,0
chr1	27760444	rs10902671	C	A	100.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10902671;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|FAM76A|FAM76A|transcript|NM_001143912.1|protein_coding|9/9|c.940-51C>A||||||,A|intron_variant|MODIFIER|FAM76A|FAM76A|transcript|NM_001143913.1|protein_coding|8/8|c.853-51C>A||||||,A|intron_variant|MODIFIER|FAM76A|FAM76A|transcript|NM_001143914.1|protein_coding|7/7|c.751-51C>A||||||,A|intron_variant|MODIFIER|FAM76A|FAM76A|transcript|NM_001143915.1|protein_coding|6/6|c.598-51C>A||||||,A|intron_variant|MODIFIER|FAM76A|FAM76A|transcript|NM_152660.2|protein_coding|8/8|c.838-51C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4897;p3_1000G_AF=0.977835;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=19945;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28086955;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4335,67;ESP6500_AA_GTC=2134,67,0;ESP6500_CDS_SIZES=NM_152660.2:924,NM_001143915.1:684,NM_001143914.1:837,NM_001143913.1:939,NM_001143912.1:1026;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=14;ESP6500_EA_AC=7974,624;ESP6500_EA_GTC=3697,580,22;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152660.2:intron,NM_001143915.1:intron,NM_001143914.1:intron,NM_001143913.1:intron,NM_001143912.1:intron;ESP6500_GL=FAM76A;ESP6500_GRCh38_POSITION=1:27760444;ESP6500_GTC=5831,647,22;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152660.2:c.838-51C>A,NM_001143915.1:c.598-51C>A,NM_001143914.1:c.751-51C>A,NM_001143913.1:c.853-51C>A,NM_001143912.1:c.940-51C>A;ESP6500_MAF=7.2575,1.522,5.3154;ESP6500_TAC=12309,691	GT:AD:DP:GQ:PL	1/1:0,4:4:12:128,12,0
chr1	27882794	rs3766398	A	G	695.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.39;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=2.32;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766398;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|THEMIS2|THEMIS2|transcript|NM_001105556.2|protein_coding|4/6|c.1470A>G|p.Leu490Leu|1499/2724|1470/1932|490/643||,G|synonymous_variant|LOW|THEMIS2|THEMIS2|transcript|NM_001286113.1|protein_coding|5/7|c.1083A>G|p.Leu361Leu|1112/2337|1083/1545|361/514||,G|synonymous_variant|LOW|THEMIS2|THEMIS2|transcript|NM_001286115.1|protein_coding|4/6|c.882A>G|p.Leu294Leu|911/2136|882/1344|294/447||,G|intron_variant|MODIFIER|THEMIS2|THEMIS2|transcript|NM_001039477.2|protein_coding|2/3|c.236-2501A>G||||||,G|intron_variant|MODIFIER|THEMIS2|THEMIS2|transcript|NM_004848.3|protein_coding|3/4|c.647-2501A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2366;p3_1000G_AF=0.472444;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17331;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28209305;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1052,3112;ESP6500_AA_GTC=124,804,1154;ESP6500_CDS_SIZES=NM_004848.2:783,NM_001105556.1:1932,NM_001039477.1:372;ESP6500_CG=1.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=112;ESP6500_EA_AC=5478,2944;ESP6500_EA_GTC=1796,1886,529;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004848.2:intron,NM_001105556.1:coding-synonymous,NM_001039477.1:intron;ESP6500_GL=THEMIS2;ESP6500_GRCh38_POSITION=1:27882794;ESP6500_GTC=1920,2690,1683;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004848.2:c.647-2501A>G,NM_001105556.1:c.1470A>G,NM_001039477.1:c.236-2501A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001105556.1:p.(L490),.;ESP6500_MAF=34.9561,25.2642,48.117;ESP6500_TAC=6530,6056	GT:AD:DP:GQ:PL	0/1:24,24:48:99:724,0,585
chr1	27882851	rs3766399	T	C	778.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.84;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=1.17;SOR=0.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766399;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|THEMIS2|THEMIS2|transcript|NM_001105556.2|protein_coding|4/6|c.1527T>C|p.Val509Val|1556/2724|1527/1932|509/643||,C|synonymous_variant|LOW|THEMIS2|THEMIS2|transcript|NM_001286113.1|protein_coding|5/7|c.1140T>C|p.Val380Val|1169/2337|1140/1545|380/514||,C|synonymous_variant|LOW|THEMIS2|THEMIS2|transcript|NM_001286115.1|protein_coding|4/6|c.939T>C|p.Val313Val|968/2136|939/1344|313/447||,C|intron_variant|MODIFIER|THEMIS2|THEMIS2|transcript|NM_001039477.2|protein_coding|2/3|c.236-2444T>C||||||,C|intron_variant|MODIFIER|THEMIS2|THEMIS2|transcript|NM_004848.3|protein_coding|3/4|c.647-2444T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2376;p3_1000G_AF=0.474441;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=18222;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28209362;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1078,2992;ESP6500_AA_GTC=131,816,1088;ESP6500_CDS_SIZES=NM_004848.2:783,NM_001105556.1:1932,NM_001039477.1:372;ESP6500_CG=-10.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=103;ESP6500_EA_AC=5434,2908;ESP6500_EA_GTC=1784,1866,521;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004848.2:intron,NM_001105556.1:coding-synonymous,NM_001039477.1:intron;ESP6500_GL=THEMIS2;ESP6500_GRCh38_POSITION=1:27882851;ESP6500_GTC=1915,2682,1609;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004848.2:c.647-2444T>C,NM_001105556.1:c.1527T>C,NM_001039477.1:c.236-2444T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001105556.1:p.(V509),.;ESP6500_MAF=34.8597,26.4865,47.5346;ESP6500_TAC=6512,5900	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,21:46:99:0|1:27882851_T_C:807,0,1239
chr1	27882855	rs3766400	A	G	778.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.46;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=0.374;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766400;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|THEMIS2|THEMIS2|transcript|NM_001105556.2|protein_coding|4/6|c.1531A>G|p.Lys511Glu|1560/2724|1531/1932|511/643||,G|missense_variant|MODERATE|THEMIS2|THEMIS2|transcript|NM_001286113.1|protein_coding|5/7|c.1144A>G|p.Lys382Glu|1173/2337|1144/1545|382/514||,G|missense_variant|MODERATE|THEMIS2|THEMIS2|transcript|NM_001286115.1|protein_coding|4/6|c.943A>G|p.Lys315Glu|972/2136|943/1344|315/447||,G|intron_variant|MODIFIER|THEMIS2|THEMIS2|transcript|NM_001039477.2|protein_coding|2/3|c.236-2440A>G||||||,G|intron_variant|MODIFIER|THEMIS2|THEMIS2|transcript|NM_004848.3|protein_coding|3/4|c.647-2440A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2256;p3_1000G_AF=0.450479;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=18066;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28209366;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=623,3461;ESP6500_AA_GTC=45,533,1464;ESP6500_CDS_SIZES=NM_004848.2:783,NM_001105556.1:1932,NM_001039477.1:372;ESP6500_CG=4.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=102;ESP6500_EA_AC=5354,2994;ESP6500_EA_GTC=1733,1888,553;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004848.2:intron,NM_001105556.1:missense,NM_001039477.1:intron;ESP6500_GL=THEMIS2;ESP6500_GRCh38_POSITION=1:27882855;ESP6500_GS=.,56,.;ESP6500_GTC=1778,2421,2017;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004848.2:c.647-2440A>G,NM_001105556.1:c.1531A>G,NM_001039477.1:c.236-2440A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001105556.1:p.(K511E),.;ESP6500_MAF=35.8649,15.2547,48.0775;ESP6500_PH=.,benign:0.0,.;ESP6500_TAC=5977,6455	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,21:45:99:0|1:27882851_T_C:807,0,1239
chr1	27935082	rs3737809	T	C	496.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.255;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.84;ReadPosRankSum=-1.429;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737809;dbSNPBuildID=107;ANN=C|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_014474.3|protein_coding|1/8|c.-102T>C|||||102|,C|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001009568.2|protein_coding|1/7|c.-102T>C|||||102|,C|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001304579.1|protein_coding|1/8|c.-791T>C|||||19373|;p3_1000G_AA=T|||;p3_1000G_AC=1800;p3_1000G_AF=0.359425;p3_1000G_AFR_AF=0.298;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=20372;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28261593;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,13:20:99:0|1:27935082_T_C:525,0,312
chr1	27935089	rs3737808	A	C	536.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.044;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.84;ReadPosRankSum=-1.898;SOR=1.009;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737808;dbSNPBuildID=107;ANN=C|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_014474.3|protein_coding|1/8|c.-95A>C|||||95|,C|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001009568.2|protein_coding|1/7|c.-95A>C|||||95|,C|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001304579.1|protein_coding|1/8|c.-784A>C|||||19366|;p3_1000G_AA=A|||;p3_1000G_AC=1161;p3_1000G_AF=0.231829;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=20265;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28261600;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,14:20:99:0|1:27935082_T_C:565,0,277
chr1	27935147	rs3831926;rs397811366	T	TG	539.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.761;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.87;ReadPosRankSum=2.51;SOR=0.859;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3831926;dbSNPBuildID=107,138;ANN=TG|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_014474.3|protein_coding|1/8|c.-36dupG|||||35|INFO_REALIGN_3_PRIME,TG|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001009568.2|protein_coding|1/7|c.-36dupG|||||35|INFO_REALIGN_3_PRIME,TG|5_prime_UTR_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001304579.1|protein_coding|1/8|c.-725dupG|||||19306|INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=1843;p3_1000G_AF=0.368011;p3_1000G_AFR_AF=0.3215;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=20201;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28261658;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=INDEL;ESP6500_AA_AC=1456,2810;ESP6500_AA_GTC=247,962,924;ESP6500_CDS_SIZES=NM_014474.2:1368,NM_001009568.1:1122;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=3693,4561;ESP6500_EA_GTC=817,2059,1251;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014474.2:utr-5,NM_001009568.1:utr-5;ESP6500_GL=SMPDL3B;ESP6500_GRCh38_POSITION=1:27935147;ESP6500_GTC=1064,3021,2175;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014474.2:c.-37_-36insG,NM_001009568.1:c.-37_-36insG;ESP6500_MAF=44.7419,34.1303,41.1262;ESP6500_TAC=5149,7371	GT:AD:DP:GQ:PL	0/1:14,18:32:99:577,0,428
chr1	27935391	rs3737807	C	A	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.432;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=1.07;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737807;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_014474.3|protein_coding|1/7|c.61+147C>A||||||,A|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001009568.2|protein_coding|1/6|c.61+147C>A||||||,A|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001304579.1|protein_coding|1/7|c.-629+147C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1736;p3_1000G_AF=0.346645;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=18619;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28261902;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:262,0,174
chr1	27942195	rs4908341	G	A	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.768;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0.353;SOR=0.801;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4908341;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_014474.3|protein_coding|1/7|c.62-3037G>A||||||,A|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001009568.2|protein_coding|1/6|c.62-3037G>A||||||,A|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001304579.1|protein_coding|1/7|c.-628-3037G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2289;p3_1000G_AF=0.457069;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=21739;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.4732;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28268706;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,12:31:99:294,0,523
chr1	27942318	rs138466566	T	TC	491.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.266;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.552;SOR=0.818;INS;HET;VARTYPE=INS;dbSNP138_ID=rs138466566;dbSNPBuildID=134;ANN=TC|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_014474.3|protein_coding|1/7|c.62-2909dupC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001009568.2|protein_coding|1/6|c.62-2909dupC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001304579.1|protein_coding|1/7|c.-628-2909dupC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,18:30:99:0|1:27942318_T_TC:529,0,336
chr1	27942322	rs11386058	C	CG	305.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.007;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.636;SOR=0.582;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11386058;dbSNPBuildID=130;ANN=CG|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_014474.3|protein_coding|1/7|c.62-2910_62-2909insG||||||,CG|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001009568.2|protein_coding|1/6|c.62-2910_62-2909insG||||||,CG|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001304579.1|protein_coding|1/7|c.-628-2910_-628-2909insG||||||;p3_1000G_AA=|||unknown(LONG_INSERTION);p3_1000G_AC=2295;p3_1000G_AF=0.458267;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=17319;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.4742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28268833;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6575;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,12:30:99:1|0:27942318_T_TC:343,0,527
chr1	27942324	rs5018921	A	C	1351.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.28;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5018921;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_014474.3|protein_coding|1/7|c.62-2908A>C||||||,C|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001009568.2|protein_coding|1/6|c.62-2908A>C||||||,C|intron_variant|MODIFIER|SMPDL3B|SMPDL3B|transcript|NM_001304579.1|protein_coding|1/7|c.-628-2908A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3477;p3_1000G_AF=0.694289;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=17401;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.7505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28268835;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,31:31:93:1|1:27942318_T_TC:1380,93,0
chr1	27989947	rs3767307	T	C	101.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3767307;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001990.3|protein_coding|14/17|c.1304-136A>G||||||,C|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282561.1|protein_coding|13/16|c.1166-136A>G||||||,C|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282562.1|protein_coding|13/16|c.1145-136A>G||||||,C|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282560.1|protein_coding|13/16|c.1166-136A>G||||||,C|intron_variant|MODIFIER|EYA3|EYA3|transcript|NR_104214.1|pseudogene|15/16|n.1554-136A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=655;p3_1000G_AF=0.130791;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=15359;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28316458;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:129,9,0
chr1	28042768	rs2476547	G	A	439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2476547;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001990.3|protein_coding|3/17|c.78-118C>T||||||,A|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282561.1|protein_coding|3/16|c.78-118C>T||||||,A|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282562.1|protein_coding|3/16|c.-2-3863C>T||||||,A|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282560.1|protein_coding|3/16|c.78-118C>T||||||,A|intron_variant|MODIFIER|EYA3|EYA3|transcript|NR_104214.1|pseudogene|3/16|n.260-118C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=3280;p3_1000G_AF=0.654952;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=20564;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.5577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28369279;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:468,42,0
chr1	28048325	rs199586294	GA	G	632.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.36;SOR=1.519;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs199586294;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001990.3|protein_coding|3/17|c.77+57delT||||||,G|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282561.1|protein_coding|3/16|c.77+57delT||||||,G|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282562.1|protein_coding|3/16|c.-3+57delT||||||,G|intron_variant|MODIFIER|EYA3|EYA3|transcript|NM_001282560.1|protein_coding|3/16|c.77+57delT||||||,G|intron_variant|MODIFIER|EYA3|EYA3|transcript|NR_104214.1|pseudogene|3/16|n.259+57delT||||||	GT:AD:DP:GQ:PL	1/1:0,24:24:72:670,72,0
chr1	28208460	rs3738163	G	C	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.98;ReadPosRankSum=0.379;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738163;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|DNAJC8|DNAJC8|transcript|NM_014280.2|protein_coding|5/8|c.400-47C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=232;p3_1000G_AF=0.0463259;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16354;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28534971;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=6,3614;ESP6500_AA_GTC=0,6,1804;ESP6500_CDS_SIZES=NM_014280.2:762;ESP6500_CG=0.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=35;ESP6500_EA_AC=5,8157;ESP6500_EA_GTC=0,5,4076;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014280.2:intron;ESP6500_GL=DNAJC8;ESP6500_GRCh38_POSITION=1:28208460;ESP6500_GTC=0,11,5880;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014280.2:c.400-47C>G;ESP6500_MAF=0.0613,0.1657,0.0934;ESP6500_TAC=11,11771	GT:AD:DP:GQ:PL	0/1:10,4:14:98:98,0,310
chr1	28259886	rs12567493	G	A	180.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.901;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.081;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12567493;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|SESN2|SESN2|transcript|NM_031459.4|protein_coding|1/10|c.39G>A|p.Lys13Lys|435/3528|39/1443|13/480||;p3_1000G_AA=G|||;p3_1000G_AC=32;p3_1000G_AF=0.00638978;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=9528;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28586397;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:209,0,229
chr1	28271972	.	G	T	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|SESN2|SESN2|transcript|NM_031459.4|protein_coding|3/9|c.354+101G>T||||||	GT:AD:DP:GQ:PL	0/1:4,3:7:38:38,0,143
chr1	28432914	rs397979763;rs66647759	A	AT	222.06	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.204;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=0.458;SOR=2.985;INS;HET;VARTYPE=INS;dbSNP138_ID=rs66647759;dbSNPBuildID=137,138;ANN=AT|intron_variant|MODIFIER|PHACTR4|PHACTR4|transcript|NM_001048183.1|protein_coding|2/13|c.16+25463dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3476;p3_1000G_AF=0.694089;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=15478;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28759425;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,12:14:11:259,0,11
chr1	28690204	rs6678913	T	G	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.91;ReadPosRankSum=0.578;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6678913;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|GMEB1|GMEB1|transcript|NM_006582.3|protein_coding|3/9|c.241+18T>G||||||,G|intron_variant|MODIFIER|GMEB1|GMEB1|transcript|NM_001319674.1|protein_coding|3/9|c.211+18T>G||||||,G|intron_variant|MODIFIER|GMEB1|GMEB1|transcript|NM_024482.2|protein_coding|3/9|c.211+18T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2215;p3_1000G_AF=0.442292;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=16271;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29016716;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=110,4294;ESP6500_AA_GTC=5,100,2097;ESP6500_CDS_SIZES=NM_024482.2:1692,NM_006582.3:1722;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=24;ESP6500_EA_AC=625,7975;ESP6500_EA_GTC=37,551,3712;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024482.2:intron,NM_006582.3:intron;ESP6500_GL=GMEB1;ESP6500_GRCh38_POSITION=1:28690204;ESP6500_GTC=42,651,5809;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_024482.2:c.211+18T>G,NM_006582.3:c.241+18T>G;ESP6500_MAF=7.2674,2.4977,5.6521;ESP6500_TAC=735,12269	GT:AD:DP:GQ:PL	0/1:7,6:13:99:131,0,151
chr1	28710728	rs11415888	C	CT	38.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=-1.255;SOR=0.892;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11415888;dbSNPBuildID=137;ANN=CT|intron_variant|MODIFIER|GMEB1|GMEB1|transcript|NM_006582.3|protein_coding|9/9|c.1021+98dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|GMEB1|GMEB1|transcript|NM_001319674.1|protein_coding|9/9|c.991+98dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|GMEB1|GMEB1|transcript|NM_024482.2|protein_coding|9/9|c.991+98dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2443;p3_1000G_AF=0.487819;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=15603;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29037240;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,4:10:76:76,0,124
chr1	28737047	rs6697540	A	C	247.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.53;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6697540;dbSNPBuildID=116;ANN=C|splice_region_variant|LOW|YTHDF2|YTHDF2|transcript|NM_001173128.1|protein_coding|2/6|c.-74A>C||||||,C|5_prime_UTR_variant|MODIFIER|YTHDF2|YTHDF2|transcript|NM_001173128.1|protein_coding|2/6|c.-74A>C|||||74|,C|5_prime_UTR_variant|MODIFIER|YTHDF2|YTHDF2|transcript|NM_016258.2|protein_coding|1/5|c.-74A>C|||||74|,C|5_prime_UTR_variant|MODIFIER|YTHDF2|YTHDF2|transcript|NM_001172828.1|protein_coding|1/4|c.-199A>C|||||5374|;p3_1000G_AA=C|||;p3_1000G_AC=4814;p3_1000G_AF=0.961262;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=10546;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29063559;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:276,27,0
chr1	28744097	rs3835537	A	AG	62.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.036;SOR=2.093;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3835537;dbSNPBuildID=107;ANN=AG|intron_variant|MODIFIER|YTHDF2|YTHDF2|transcript|NM_001173128.1|protein_coding|5/5|c.1716+111_1716+112insG||||||,AG|intron_variant|MODIFIER|YTHDF2|YTHDF2|transcript|NM_016258.2|protein_coding|4/4|c.1716+111_1716+112insG||||||,AG|intron_variant|MODIFIER|YTHDF2|YTHDF2|transcript|NM_001172828.1|protein_coding|3/3|c.1566+111_1566+112insG||||||	GT:AD:DP:GQ:PL	0/1:3,3:6:99:100,0,103
chr1	28812463	rs1042114	G	T	697.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.84;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1042114;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|OPRD1|OPRD1|transcript|NM_000911.3|protein_coding|1/3|c.80G>T|p.Cys27Phe|322/1774|80/1119|27/372||;p3_1000G_AA=T|||;p3_1000G_AC=4730;p3_1000G_AF=0.944489;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=9147;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8678;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29138975;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3689,115;ESP6500_AA_GTC=1788,113,1;ESP6500_CDS_SIZES=NM_000911.3:1119;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=5;ESP6500_EA_AC=6762,846;ESP6500_EA_GTC=2982,798,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000911.3:missense;ESP6500_GL=OPRD1;ESP6500_GRCh38_POSITION=1:28812463;ESP6500_GS=205;ESP6500_GTC=4770,911,25;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000911.3:c.80G>T;ESP6500_HGVS_PROTEIN_VAR=NM_000911.3:p.(C27F);ESP6500_MAF=11.1199,3.0231,8.421;ESP6500_PH=benign:0.0;ESP6500_TAC=10451,961	GT:AD:DP:GQ:PL	1/1:0,26:26:78:726,78,0
chr1	28863085	rs2234918	C	T	2473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=0.92;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2234918;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|OPRD1|OPRD1|transcript|NM_000911.3|protein_coding|3/3|c.921C>T|p.Gly307Gly|1163/1774|921/1119|307/372||;p3_1000G_AA=C|||;p3_1000G_AC=2911;p3_1000G_AF=0.58127;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=15581;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.5726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29189597;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1507,2897;ESP6500_AA_GTC=274,959,969;ESP6500_CDS_SIZES=NM_000911.3:1119;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=27;ESP6500_EA_AC=4618,3982;ESP6500_EA_GTC=1248,2122,930;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000911.3:coding-synonymous;ESP6500_GL=OPRD1;ESP6500_GRCh38_POSITION=1:28863085;ESP6500_GTC=1522,3081,1899;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000911.3:c.921C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000911.3:p.(G307);ESP6500_MAF=46.3023,34.2189,47.1009;ESP6500_TAC=6125,6879	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2502,228,0
chr1	29058974	rs2153165	G	C	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.595;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=0.718;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2153165;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166005.1|protein_coding|14/20|c.1944+122G>C||||||,C|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166007.1|protein_coding|12/17|c.1218+5662G>C||||||,C|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_004437.3|protein_coding|13/18|c.1219-1448G>C||||||,C|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_203342.2|protein_coding|14/20|c.1275+329G>C||||||,C|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_203343.2|protein_coding|11/16|c.1740+5662G>C||||||,C|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166006.1|protein_coding|13/14|c.1902+329G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2105;p3_1000G_AF=0.420327;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=18709;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29385486;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:81:266,0,81
chr1	29064884	rs12070152	A	G	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.62;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0.478;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12070152;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166005.1|protein_coding|15/20|c.2008-98A>G||||||,G|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166007.1|protein_coding|12/17|c.1219-98A>G||||||,G|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_004437.3|protein_coding|14/18|c.1282-98A>G||||||,G|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_203342.2|protein_coding|15/20|c.1339-98A>G||||||,G|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_203343.2|protein_coding|11/16|c.1741-98A>G||||||,G|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166006.1|protein_coding|14/14|c.1966-98A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2104;p3_1000G_AF=0.420128;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=22274;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29391396;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:263,0,214
chr1	29112504	rs4654390	T	A	117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.34;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.54;ReadPosRankSum=0.749;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4654390;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166005.1|protein_coding|19/20|c.2496+56T>A||||||,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166007.1|protein_coding|16/17|c.1707+56T>A||||||,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_004437.3|protein_coding|17/18|c.1668+56T>A||||||,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_203342.2|protein_coding|19/20|c.1827+56T>A||||||,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_203343.2|protein_coding|15/16|c.2229+56T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2016;p3_1000G_AF=0.402556;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=18715;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.5159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29439016;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=300,1084;ESP6500_AA_GTC=36,228,428;ESP6500_CDS_SIZES=NM_203343.2:2328,NM_203342.2:1926,NM_004437.3:1767,NM_001166007.1:1806,NM_001166005.1:2595;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=66;ESP6500_EA_AC=1497,1685;ESP6500_EA_GTC=337,823,431;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203343.2:intron,NM_203342.2:intron,NM_004437.3:intron,NM_001166007.1:intron,NM_001166005.1:intron;ESP6500_GL=EPB41;ESP6500_GRCh38_POSITION=1:29112504;ESP6500_GTC=373,1051,859;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_203343.2:c.2229+56T>A,NM_203342.2:c.1827+56T>A,NM_004437.3:c.1668+56T>A,NM_001166007.1:c.1707+56T>A,NM_001166005.1:c.2496+56T>A;ESP6500_MAF=47.0459,21.6763,39.3561;ESP6500_TAC=1797,2769	GT:AD:DP:GQ:PL	0/1:13,5:18:99:146,0,348
chr1	29115650	rs555342367	G	A	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.694;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.248;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.426;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|downstream_gene_variant|MODIFIER|TMEM200B|TMEM200B|transcript|NM_001003682.3|protein_coding||c.*5255C>T|||||3775|,A|downstream_gene_variant|MODIFIER|TMEM200B|TMEM200B|transcript|NM_001171868.1|protein_coding||c.*5255C>T|||||3775|,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166005.1|protein_coding|19/20|c.2497-49G>A||||||,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_001166007.1|protein_coding|16/17|c.1708-49G>A||||||,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_004437.3|protein_coding|17/18|c.1669-49G>A||||||,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_203342.2|protein_coding|19/20|c.1828-49G>A||||||,A|intron_variant|MODIFIER|EPB41|EPB41|transcript|NM_203343.2|protein_coding|15/16|c.2230-49G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20700;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29442162;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,20:48:99:474,0,752
chr1	29149136	rs2230679	T	G	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.41;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.882;SOR=0.474;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230679;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|SRSF4|SRSF4|transcript|NM_005626.4|protein_coding|6/6|c.759A>C|p.Glu253Asp|1132/2530|759/1485|253/494||;p3_1000G_AA=G|||;p3_1000G_AC=3607;p3_1000G_AF=0.720248;p3_1000G_AFR_AF=0.7231;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=14405;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.8817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29475648;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3378,1028;ESP6500_AA_AGE=367.8+/-318.4;ESP6500_AA_GTC=1318,742,143;ESP6500_CDS_SIZES=NM_005626.4:1485;ESP6500_CG=-3.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=114;ESP6500_EA_AC=7668,932;ESP6500_EA_AGE=195.9+/-241.0;ESP6500_EA_GTC=3423,822,55;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005626.4:missense;ESP6500_GL=SRSF4;ESP6500_GRCh38_POSITION=1:29149136;ESP6500_GS=45;ESP6500_GTC=4741,1564,198;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_005626.4:c.759A>C;ESP6500_HGVS_PROTEIN_VAR=NM_005626.4:p.(E253D);ESP6500_MAF=10.8372,23.3318,15.07;ESP6500_PH=benign:0.0;ESP6500_TAC=11046,1960	GT:AD:DP:GQ:PL	0/1:14,17:31:99:411,0,435
chr1	29195872	rs2291611	G	A	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.512;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.121;SOR=0.728;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291611;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MECR|MECR|transcript|NM_016011.3|protein_coding|9/9|c.964+69C>T||||||,A|intron_variant|MODIFIER|MECR|MECR|transcript|NM_001024732.2|protein_coding|9/9|c.736+69C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1025;p3_1000G_AF=0.204673;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=19916;p3_1000G_EAS_AF=0.4117;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29522384;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,14:37:99:306,0,617
chr1	29203187	rs1062924	T	C	651.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.255;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.094;SOR=0.652;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1062924;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|MECR|MECR|transcript|NM_016011.3|protein_coding|5/10|c.597A>G|p.Ala199Ala|649/2539|597/1122|199/373||,C|synonymous_variant|LOW|MECR|MECR|transcript|NM_001024732.2|protein_coding|5/10|c.369A>G|p.Ala123Ala|776/2666|369/894|123/297||;p3_1000G_AA=C|||;p3_1000G_AC=3740;p3_1000G_AF=0.746805;p3_1000G_AFR_AF=0.8238;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=19893;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.8807;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29529699;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3737,667;ESP6500_AA_GTC=1596,545,61;ESP6500_CDS_SIZES=NM_016011.2:1122,NM_001024732.1:894;ESP6500_CG=-3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=61;ESP6500_EA_AC=7657,941;ESP6500_EA_GTC=3414,829,56;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016011.2:coding-synonymous,NM_001024732.1:coding-synonymous;ESP6500_GL=MECR;ESP6500_GRCh38_POSITION=1:29203187;ESP6500_GTC=5010,1374,117;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016011.2:c.597A>G,NM_001024732.1:c.369A>G;ESP6500_HGVS_PROTEIN_VAR=NM_016011.2:p.(A199),NM_001024732.1:p.(A123);ESP6500_MAF=10.9444,15.1453,12.3673;ESP6500_TAC=11394,1608	GT:AD:DP:GQ:PL	0/1:32,29:61:99:680,0,846
chr1	29215923	rs2640469	C	G	1028.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=4.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2640469;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MECR|MECR|transcript|NM_016011.3|protein_coding|3/9|c.406+82G>C||||||,G|intron_variant|MODIFIER|MECR|MECR|transcript|NM_001024732.2|protein_coding|3/9|c.178+82G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4456;p3_1000G_AF=0.889776;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=20413;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.9861;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29542435;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:1057,78,0
chr1	29216125	rs1128400	A	G	879.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.027;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.097;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-1.214;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1128400;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|MECR|MECR|transcript|NM_016011.3|protein_coding|3/10|c.286T>C|p.Phe96Leu|338/2539|286/1122|96/373||,G|missense_variant|MODERATE|MECR|MECR|transcript|NM_001024732.2|protein_coding|3/10|c.58T>C|p.Phe20Leu|465/2666|58/894|20/297||;p3_1000G_AA=G|||;p3_1000G_AC=3596;p3_1000G_AF=0.718051;p3_1000G_AFR_AF=0.7231;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=18955;p3_1000G_EAS_AF=0.5625;p3_1000G_EUR_AF=0.8797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29542637;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3374,1032;ESP6500_AA_AGE=380.9+/-323.9;ESP6500_AA_GTC=1315,744,144;ESP6500_CDS_SIZES=NM_016011.2:1122,NM_001024732.1:894;ESP6500_CG=1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=110;ESP6500_EA_AC=7666,934;ESP6500_EA_AGE=205.6+/-248.0;ESP6500_EA_GTC=3424,818,58;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016011.2:missense,NM_001024732.1:missense;ESP6500_GL=MECR;ESP6500_GRCh38_POSITION=1:29216125;ESP6500_GS=22,22;ESP6500_GTC=4739,1562,202;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016011.2:c.286T>C,NM_001024732.1:c.58T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016011.2:p.(F96L),NM_001024732.1:p.(F20L);ESP6500_MAF=10.8605,23.4226,15.1161;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11040,1966	GT:AD:DP:GQ:PL	0/1:22,34:56:99:908,0,554
chr1	29236899	rs12041477	G	A	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.293;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.777;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12041477;dbSNPBuildID=120;ANN=A|sequence_feature|LOW|PTPRU|PTPRU|domain:MAM|NM_005704.4|protein_coding|1/30|c.73+182G>A||||||,A|sequence_feature|LOW|PTPRU|PTPRU|domain:MAM|NM_001195001.1|protein_coding|1/29|c.73+182G>A||||||,A|sequence_feature|LOW|PTPRU|PTPRU|domain:MAM|NM_133177.3|protein_coding|1/30|c.73+182G>A||||||,A|sequence_feature|LOW|PTPRU|PTPRU|domain:MAM|NM_133178.3|protein_coding|1/29|c.73+182G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|1/30|c.73+182G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|1/29|c.73+182G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|1/30|c.73+182G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|1/29|c.73+182G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1027;p3_1000G_AF=0.205072;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=17884;p3_1000G_EAS_AF=0.4117;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29563411;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:169,0,205
chr1	29275808	rs76920782	G	A	308.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76920782;dbSNPBuildID=131;ANN=A|sequence_feature|LOW|PTPRU|PTPRU|domain:Fibronectin_type-III_3|NM_005704.4|protein_coding|8/30|c.1453+52G>A||||||,A|sequence_feature|LOW|PTPRU|PTPRU|domain:Fibronectin_type-III_3|NM_001195001.1|protein_coding|8/29|c.1453+52G>A||||||,A|sequence_feature|LOW|PTPRU|PTPRU|domain:Fibronectin_type-III_3|NM_133177.3|protein_coding|8/30|c.1453+52G>A||||||,A|sequence_feature|LOW|PTPRU|PTPRU|domain:Fibronectin_type-III_3|NM_133178.3|protein_coding|8/29|c.1453+52G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|8/30|c.1453+52G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|8/29|c.1453+52G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|8/30|c.1453+52G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|8/29|c.1453+52G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1553;p3_1000G_AF=0.310104;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18420;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29602320;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=461,2193;ESP6500_AA_GTC=39,383,905;ESP6500_CDS_SIZES=NM_133178.3:4311,NM_133177.3:4323,NM_005704.4:4341,NM_001195001.1:4302;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=17;ESP6500_EA_AC=408,4210;ESP6500_EA_GTC=20,368,1921;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133178.3:intron,NM_133177.3:intron,NM_005704.4:intron,NM_001195001.1:intron;ESP6500_GL=PTPRU;ESP6500_GRCh38_POSITION=1:29275808;ESP6500_GTC=59,751,2826;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133178.3:c.1453+52G>A,NM_133177.3:c.1453+52G>A,NM_005704.4:c.1453+52G>A,NM_001195001.1:c.1453+52G>A;ESP6500_MAF=8.835,17.37,11.9499;ESP6500_TAC=869,6403	GT:AD:DP:GQ:PL	1/1:0,10:10:30:337,30,0
chr1	29282990	rs111595207	TG	T	375.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.9;SOR=5.283;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs111595207;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|12/30|c.2142+47delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|12/29|c.2142+47delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|12/30|c.2142+47delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|12/29|c.2142+47delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGG|GGGGGG|GGGGG|insertion;p3_1000G_AC=2306;p3_1000G_AF=0.460463;p3_1000G_AFR_AF=0.5877;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=12882;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29609502;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=INDEL;ESP6500_AA_AC=2209,2043;ESP6500_AA_GTC=596,1017,513;ESP6500_CDS_SIZES=NM_133178.3:4311,NM_133177.3:4323,NM_005704.4:4341,NM_001195001.1:4302;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=32;ESP6500_EA_AC=1382,6832;ESP6500_EA_GTC=151,1080,2876;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133178.3:intron,NM_133177.3:intron,NM_005704.4:intron,NM_001195001.1:intron;ESP6500_GL=PTPRU;ESP6500_GRCh38_POSITION=1:29282990;ESP6500_GTC=747,2097,3389;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_133178.3:c.2142+42del1,NM_133177.3:c.2142+42del1,NM_005704.4:c.2142+42del1,NM_001195001.1:c.2142+42del1;ESP6500_MAF=16.8249,48.048,28.8064;ESP6500_TAC=3591,8875	GT:AD:DP:GQ:PL	1/1:0,13:13:39:413,39,0
chr1	29283024	rs72884571	G	A	485.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.8;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72884571;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|12/30|c.2142+75G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|12/29|c.2142+75G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|12/30|c.2142+75G>A||||||,A|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|12/29|c.2142+75G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1644;p3_1000G_AF=0.328275;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=11249;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29609536;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:514,39,0
chr1	29284611	rs2281378	C	T	277.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2281378;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|13/30|c.2180-120C>T||||||,T|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|13/29|c.2180-120C>T||||||,T|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|13/30|c.2180-120C>T||||||,T|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|13/29|c.2180-120C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2091;p3_1000G_AF=0.417532;p3_1000G_AFR_AF=0.5303;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=21794;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29611123;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:306,27,0
chr1	29303943	rs2295061	C	T	1268.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2295061;dbSNPBuildID=100;ANN=T|sequence_feature|MODERATE|PTPRU|PTPRU|modified-residue:phosphotyrosine|NM_005704.4|protein_coding|17/31|c.2595C>T||||||,T|sequence_feature|MODERATE|PTPRU|PTPRU|modified-residue:phosphotyrosine|NM_001195001.1|protein_coding|16/30|c.2565C>T||||||,T|sequence_feature|MODERATE|PTPRU|PTPRU|modified-residue:phosphotyrosine|NM_133177.3|protein_coding|16/31|c.2565C>T||||||,T|sequence_feature|MODERATE|PTPRU|PTPRU|modified-residue:phosphotyrosine|NM_133178.3|protein_coding|16/30|c.2565C>T||||||,T|synonymous_variant|LOW|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|17/31|c.2595C>T|p.Tyr865Tyr|2724/5622|2595/4341|865/1446||,T|synonymous_variant|LOW|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|16/30|c.2565C>T|p.Tyr855Tyr|2694/5583|2565/4302|855/1433||,T|synonymous_variant|LOW|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|16/31|c.2565C>T|p.Tyr855Tyr|2694/5604|2565/4323|855/1440||,T|synonymous_variant|LOW|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|16/30|c.2565C>T|p.Tyr855Tyr|2694/5592|2565/4311|855/1436||;p3_1000G_AA=C|||;p3_1000G_AC=1879;p3_1000G_AF=0.3752;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=16610;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29630455;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1402,3004;ESP6500_AA_AGE=440.8+/-346.1;ESP6500_AA_GTC=220,962,1021;ESP6500_CDS_SIZES=NM_133178.3:4311,NM_133177.3:4323,NM_005704.4:4341,NM_001195001.1:4302;ESP6500_CG=-2.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=1224,7376;ESP6500_EA_AGE=240.8+/-271.4;ESP6500_EA_GTC=85,1054,3161;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133178.3:coding-synonymous,NM_133177.3:coding-synonymous,NM_005704.4:coding-synonymous,NM_001195001.1:coding-synonymous;ESP6500_GL=PTPRU;ESP6500_GRCh38_POSITION=1:29303943;ESP6500_GTC=305,2016,4182;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133178.3:c.2565C>T,NM_133177.3:c.2565C>T,NM_005704.4:c.2595C>T,NM_001195001.1:c.2565C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133178.3:p.(Y855),NM_133177.3:p.(Y855),NM_005704.4:p.(Y865),NM_001195001.1:p.(Y855);ESP6500_MAF=14.2326,31.8202,20.1907;ESP6500_TAC=2626,10380	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1297,129,0
chr1	29304724	rs3831903	C	CTA	1087.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.49;SOR=0.941;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3831903;dbSNPBuildID=107;ANN=CTA|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|17/30|c.2698-49_2698-48insAT||||||INFO_REALIGN_3_PRIME,CTA|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|16/29|c.2668-49_2668-48insAT||||||INFO_REALIGN_3_PRIME,CTA|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|16/30|c.2668-49_2668-48insAT||||||INFO_REALIGN_3_PRIME,CTA|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|16/29|c.2668-49_2668-48insAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3179;p3_1000G_AF=0.634784;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=19162;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29631236;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=INDEL;ESP6500_AA_AC=2791,1473;ESP6500_AA_GTC=941,909,282;ESP6500_CDS_SIZES=NM_133178.3:4311,NM_133177.3:4323,NM_005704.4:4341,NM_001195001.1:4302;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=18;ESP6500_EA_AC=3374,4880;ESP6500_EA_GTC=682,2010,1435;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133178.3:intron,NM_133177.3:intron,NM_005704.4:intron,NM_001195001.1:intron;ESP6500_GL=PTPRU;ESP6500_GRCh38_POSITION=1:29304724;ESP6500_GTC=1623,2919,1717;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_133178.3:c.2668-50_2668-49insTA,NM_133177.3:c.2668-50_2668-49insTA,NM_005704.4:c.2698-50_2698-49insTA,NM_001195001.1:c.2668-50_2668-49insTA;ESP6500_MAF=40.8772,34.545,49.2491;ESP6500_TAC=6165,6353	GT:AD:DP:GQ:PL	1/1:0,25:25:75:1125,75,0
chr1	29305397	rs2235937	A	G	1245.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.793;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=2.409;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.931;SOR=0.853;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235937;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|19/31|c.2819A>G|p.Asn940Ser|2948/5622|2819/4341|940/1446||,G|missense_variant|MODERATE|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|18/30|c.2789A>G|p.Asn930Ser|2918/5583|2789/4302|930/1433||,G|missense_variant|MODERATE|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|18/31|c.2789A>G|p.Asn930Ser|2918/5604|2789/4323|930/1440||,G|missense_variant|MODERATE|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|18/30|c.2789A>G|p.Asn930Ser|2918/5592|2789/4311|930/1436||;p3_1000G_AA=A|||;p3_1000G_AC=1685;p3_1000G_AF=0.336462;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=20588;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.2425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29631909;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=993,3413;ESP6500_AA_AGE=369.3+/-319.0;ESP6500_AA_GTC=99,795,1309;ESP6500_CDS_SIZES=NM_133178.3:4311,NM_133177.3:4323,NM_005704.4:4341,NM_001195001.1:4302;ESP6500_CG=1.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=136;ESP6500_EA_AC=2002,6598;ESP6500_EA_AGE=350.3+/-327.8;ESP6500_EA_GTC=235,1532,2533;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133178.3:missense,NM_133177.3:missense,NM_005704.4:missense,NM_001195001.1:missense;ESP6500_GL=PTPRU;ESP6500_GRCh38_POSITION=1:29305397;ESP6500_GS=46,46,46,46;ESP6500_GTC=334,2327,3842;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133178.3:c.2789A>G,NM_133177.3:c.2789A>G,NM_005704.4:c.2819A>G,NM_001195001.1:c.2789A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133178.3:p.(N930S),NM_133177.3:p.(N930S),NM_005704.4:p.(N940S),NM_001195001.1:p.(N930S);ESP6500_MAF=23.2791,22.5374,23.0278;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=2995,10011	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1274,0,1662
chr1	29306979	rs3835409	T	TCAGCC	611.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.45;SOR=5.421;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3835409;dbSNPBuildID=107;ANN=TCAGCC|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|19/30|c.2850+1558_2850+1562dupAGCCC||||||INFO_REALIGN_3_PRIME,TCAGCC|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|18/29|c.2820+1558_2820+1562dupAGCCC||||||INFO_REALIGN_3_PRIME,TCAGCC|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|18/30|c.2821-143_2821-139dupAGCCC||||||INFO_REALIGN_3_PRIME,TCAGCC|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|18/29|c.2820+1558_2820+1562dupAGCCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2051;p3_1000G_AF=0.409545;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=16685;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.3171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29633491;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:45:649,45,0
chr1	29310624	rs2235939	T	C	1056.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=6.593;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2235939;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|19/30|c.2851-120T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|18/29|c.2821-120T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|19/30|c.2839-120T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|18/29|c.2821-120T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2843;p3_1000G_AF=0.567692;p3_1000G_AFR_AF=0.649;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=18272;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29637136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:1085,78,0
chr1	29323362	rs10915252	T	C	577.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.01;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10915252;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|27/30|c.3859-9T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|26/29|c.3820-9T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|27/30|c.3847-9T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|26/29|c.3829-9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2260;p3_1000G_AF=0.451278;p3_1000G_AFR_AF=0.3555;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=16068;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.3917;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29649874;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1765,2641;ESP6500_AA_GTC=370,1025,808;ESP6500_CDS_SIZES=NM_133178.3:4311,NM_133177.3:4323,NM_005704.4:4341,NM_001195001.1:4302;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=2972,5624;ESP6500_EA_GTC=527,1918,1853;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133178.3:intron,NM_133177.3:intron,NM_005704.4:intron,NM_001195001.1:intron;ESP6500_GL=PTPRU;ESP6500_GRCh38_POSITION=1:29323362;ESP6500_GTC=897,2943,2661;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133178.3:c.3829-9T>C,NM_133177.3:c.3847-9T>C,NM_005704.4:c.3859-9T>C,NM_001195001.1:c.3820-9T>C;ESP6500_MAF=34.5742,40.059,36.4329;ESP6500_TAC=4737,8265	GT:AD:DP:GQ:PL	1/1:0,15:15:45:606,45,0
chr1	29325556	rs2076618	T	C	1497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=0.866;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076618;dbSNPBuildID=96;ANN=C|downstream_gene_variant|MODIFIER|LOC101928460|LOC101928460|transcript|NR_110758.1|pseudogene||n.*4064A>G|||||4064|,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_005704.4|protein_coding|30/30|c.4279-43T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_001195001.1|protein_coding|29/29|c.4240-43T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133177.3|protein_coding|30/30|c.4261-43T>C||||||,C|intron_variant|MODIFIER|PTPRU|PTPRU|transcript|NM_133178.3|protein_coding|29/29|c.4249-43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2346;p3_1000G_AF=0.46845;p3_1000G_AFR_AF=0.4168;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=18918;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.3926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29652068;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2021,2385;ESP6500_AA_AGE=613.7+/-392.2;ESP6500_AA_GTC=473,1075,655;ESP6500_CDS_SIZES=NM_133178.3:4311,NM_133177.3:4323,NM_005704.4:4341,NM_001195001.1:4302;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=108;ESP6500_EA_AC=3004,5596;ESP6500_EA_AGE=664.7+/-402.2;ESP6500_EA_GTC=535,1934,1831;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133178.3:intron,NM_133177.3:intron,NM_005704.4:intron,NM_001195001.1:intron;ESP6500_GL=PTPRU;ESP6500_GRCh38_POSITION=1:29325556;ESP6500_GTC=1008,3009,2486;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133178.3:c.4249-43T>C,NM_133177.3:c.4261-43T>C,NM_005704.4:c.4279-43T>C,NM_001195001.1:c.4240-43T>C;ESP6500_MAF=34.9302,45.8693,38.636;ESP6500_TAC=5025,7981	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1526,144,0
chr1	30713407	rs1188405	A	G	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=0.431;SOR=0.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1188405;dbSNPBuildID=87;ANN=G|3_prime_UTR_variant|MODIFIER|MATN1|MATN1|transcript|NM_002379.3|protein_coding|8/8|c.*175T>C|||||175|;p3_1000G_AA=a|||;p3_1000G_AC=2971;p3_1000G_AF=0.593251;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=18213;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.4682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31186254;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,124
chr1	30713540	rs1746059	C	T	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.726;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.225;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=1.7;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1746059;dbSNPBuildID=89;ANN=T|3_prime_UTR_variant|MODIFIER|MATN1|MATN1|transcript|NM_002379.3|protein_coding|8/8|c.*42G>A|||||42|;p3_1000G_AA=C|||;p3_1000G_AC=1315;p3_1000G_AF=0.26258;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=17191;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31186387;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1577,2689;ESP6500_AA_GTC=295,987,851;ESP6500_CDS_SIZES=NM_002379.3:1491;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=57;ESP6500_EA_AC=878,7406;ESP6500_EA_GTC=57,764,3321;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002379.3:utr-3;ESP6500_GL=MATN1;ESP6500_GRCh38_POSITION=1:30713540;ESP6500_GTC=352,1751,4172;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002379.3:c.*42G>A;ESP6500_MAF=10.5987,36.9667,19.5618;ESP6500_TAC=2455,10095	GT:AD:DP:GQ:PL	0/1:28,18:46:99:382,0,836
chr1	30716054	rs20566	A	G	1242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.33;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=2.88;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.412;SOR=0.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs20566;dbSNPBuildID=67;ANN=G|synonymous_variant|LOW|MATN1|MATN1|transcript|NM_002379.3|protein_coding|5/8|c.1062T>C|p.Thr354Thr|1096/3830|1062/1491|354/496||,G|upstream_gene_variant|MODIFIER|MATN1-AS1|MATN1-AS1|transcript|NR_034182.1|pseudogene||n.-2718A>G|||||2718|;p3_1000G_AA=G|||;p3_1000G_AC=3026;p3_1000G_AF=0.604233;p3_1000G_AFR_AF=0.8411;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=20847;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31188901;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3404,1002;ESP6500_AA_AGE=372.5+/-320.4;ESP6500_AA_GTC=1310,784,109;ESP6500_CDS_SIZES=NM_002379.3:1491;ESP6500_CG=-10.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_67;ESP6500_DP=126;ESP6500_EA_AC=3899,4701;ESP6500_EA_AGE=607.3+/-395.2;ESP6500_EA_GTC=892,2115,1293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002379.3:coding-synonymous;ESP6500_GL=MATN1;ESP6500_GRCh38_POSITION=1:30716054;ESP6500_GTC=2202,2899,1402;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002379.3:c.1062T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002379.3:p.(T354);ESP6500_MAF=45.3372,22.7417,43.849;ESP6500_TAC=7303,5703	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1271,0,945
chr1	30721582	rs556945604	G	A	1022.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.713;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.79;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|synonymous_variant|LOW|MATN1|MATN1|transcript|NM_002379.3|protein_coding|2/8|c.264C>T|p.Thr88Thr|298/3830|264/1491|88/496||,A|non_coding_transcript_exon_variant|MODIFIER|MATN1-AS1|MATN1-AS1|transcript|NR_034182.1|pseudogene|2/4|n.1089G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18892;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31194429;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1051,0,977
chr1	30723408	rs45601237	G	A	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.481;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=9.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.84;ReadPosRankSum=-0.266;SOR=0.018;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45601237;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|MATN1|MATN1|transcript|NM_002379.3|protein_coding|1/7|c.94+50C>T||||||,A|intron_variant|MODIFIER|MATN1-AS1|MATN1-AS1|transcript|NR_034182.1|pseudogene|2/3|n.1229+1686G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1109;p3_1000G_AF=0.221446;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=18244;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.335;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31196255;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=305,3729;ESP6500_AA_GTC=18,269,1730;ESP6500_CDS_SIZES=NM_002379.3:1491;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=10;ESP6500_EA_AC=2352,5488;ESP6500_EA_GTC=365,1622,1933;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002379.3:intron;ESP6500_GL=MATN1;ESP6500_GRCh38_POSITION=1:30723408;ESP6500_GTC=383,1891,3663;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002379.3:c.94+50C>T;ESP6500_MAF=30.0,7.5607,22.3766;ESP6500_TAC=2657,9217	GT:AD:DP:GQ:PL	0/1:9,5:14:96:96,0,340
chr1	30733959	rs3795437	T	C	41.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.822;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=-2.591;SOR=0.951;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795437;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|LAPTM5|LAPTM5|transcript|NM_006762.2|protein_coding|7/7|c.700-42A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1793;p3_1000G_AF=0.358027;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=18336;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31206806;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1846,2558;ESP6500_AA_AGE=606.2+/-390.7;ESP6500_AA_GTC=376,1094,732;ESP6500_CDS_SIZES=NM_006762.2:789;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=24;ESP6500_EA_AC=2375,6219;ESP6500_EA_AGE=676.1+/-403.3;ESP6500_EA_GTC=337,1701,2259;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006762.2:intron;ESP6500_GL=LAPTM5;ESP6500_GRCh38_POSITION=1:30733959;ESP6500_GTC=713,2795,2991;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006762.2:c.700-42A>G;ESP6500_MAF=27.6356,41.9164,32.4742;ESP6500_TAC=4221,8777	GT:AD:DP:GQ:PL	0/1:17,5:22:70:70,0,440
chr1	30742517	rs1050663	T	C	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.306;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.892;SOR=0.713;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1050663;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|LAPTM5|LAPTM5|transcript|NM_006762.2|protein_coding|2/8|c.120A>G|p.Ser40Ser|211/2240|120/789|40/262||,C|upstream_gene_variant|MODIFIER|MIR4420|MIR4420|transcript|NR_039616.1|pseudogene||n.-3285A>G|||||3285|;p3_1000G_AA=C|||;p3_1000G_AC=3028;p3_1000G_AF=0.604633;p3_1000G_AFR_AF=0.6188;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=20227;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.5258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31215364;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2610,1796;ESP6500_AA_AGE=528.7+/-372.5;ESP6500_AA_GTC=758,1094,351;ESP6500_CDS_SIZES=NM_006762.2:789;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=4194,4406;ESP6500_EA_AGE=584.1+/-391.7;ESP6500_EA_GTC=1001,2192,1107;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006762.2:coding-synonymous;ESP6500_GL=LAPTM5;ESP6500_GRCh38_POSITION=1:30742517;ESP6500_GTC=1759,3286,1458;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006762.2:c.120A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006762.2:p.(S40);ESP6500_MAF=48.7674,40.7626,47.6857;ESP6500_TAC=6804,6202	GT:AD:DP:GQ:PL	0/1:36,30:66:99:673,0,888
chr1	30757821	rs2273979	C	T	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=-0.674;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273979;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|LAPTM5|LAPTM5|transcript|NM_006762.2|protein_coding|1/8|c.-76G>A|||||76|;p3_1000G_AA=C|||;p3_1000G_AC=1298;p3_1000G_AF=0.259185;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=15048;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31230668;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:72:72,0,109
chr1	30873210	rs3766284	A	G	522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.612;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.235;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.544;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766284;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|SDC3|SDC3|transcript|NM_014654.3|protein_coding|5/5|c.*1T>C|||||1|;p3_1000G_AA=A|||;p3_1000G_AC=822;p3_1000G_AF=0.164137;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=19452;p3_1000G_EAS_AF=0.5278;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31346057;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=128,4278;ESP6500_AA_AGE=93.0+/-131.7;ESP6500_AA_GTC=0,128,2075;ESP6500_CDS_SIZES=NM_014654.3:1329;ESP6500_CG=-3.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=146;ESP6500_EA_AC=37,8563;ESP6500_EA_AGE=25.7+/-73.6;ESP6500_EA_GTC=0,37,4263;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014654.3:utr-3;ESP6500_GL=SDC3;ESP6500_GRCh38_POSITION=1:30873210;ESP6500_GTC=0,165,6338;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014654.3:c.*1T>C;ESP6500_MAF=0.4302,2.9051,1.2686;ESP6500_TAC=165,12841	GT:AD:DP:GQ:PL	0/1:18,21:39:99:551,0,440
chr1	30874473	rs2282440;12755	G	A	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.4;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=-1.228;SOR=1.232;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282440;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|SDC3|SDC3|transcript|NM_014654.3|protein_coding|4/5|c.986C>T|p.Thr329Ile|1033/5121|986/1329|329/442||;p3_1000G_AA=G|||;p3_1000G_AC=807;p3_1000G_AF=0.161142;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=17297;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31347320;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=81,4325;ESP6500_AA_AGE=68.7+/-106.4;ESP6500_AA_GTC=0,81,2122;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...9672&amp%3Brs...2282440|http://omim.org/entry/186357#0001;ESP6500_CDS_SIZES=NM_014654.3:1329;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=112;ESP6500_EA_AC=37,8563;ESP6500_EA_AGE=25.7+/-73.6;ESP6500_EA_GTC=0,37,4263;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014654.3:missense;ESP6500_GL=SDC3;ESP6500_GRCh38_POSITION=1:30874473;ESP6500_GS=89;ESP6500_GTC=0,118,6385;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014654.3:c.986C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014654.3:p.(T329I);ESP6500_MAF=0.4302,1.8384,0.9073;ESP6500_PH=benign:0.192;ESP6500_TAC=118,12888;CLINVAR_AF_ESP=0.0091;CLINVAR_AF_EXAC=0.08583;CLINVAR_AF_TGP=0.1611;CLINVAR_ALLELEID=27794;CLINVAR_CLNDISDB=MedGen:C4016383;CLINVAR_CLNDN=Obesity,_association_with;CLINVAR_CLNHGVS=NC_000001.11:g.30874473G>A;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=association;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:186357.0001|UniProtKB_(protein):O75056#VAR_027253;CLINVAR_GENEINFO=SDC3:9672;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2282440	GT:AD:DP:GQ:PL	0/1:35,15:50:99:381,0,985
chr1	30876828	rs28364808	G	A	30.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.805;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=0.086;SOR=1.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28364808;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|SDC3|SDC3|transcript|NM_014654.3|protein_coding|3/5|c.594C>T|p.Ala198Ala|641/5121|594/1329|198/442||;p3_1000G_AA=G|||;p3_1000G_AC=287;p3_1000G_AF=0.0573083;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=14489;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31349675;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=5,4401;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,5,2198;ESP6500_CDS_SIZES=NM_014654.3:1329;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=28;ESP6500_EA_AC=14,8586;ESP6500_EA_AGE=9.8+/-36.6;ESP6500_EA_GTC=0,14,4286;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014654.3:coding-synonymous;ESP6500_GL=SDC3;ESP6500_GRCh38_POSITION=1:30876828;ESP6500_GTC=0,19,6484;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014654.3:c.594C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014654.3:p.(A198);ESP6500_MAF=0.1628,0.1135,0.1461;ESP6500_TAC=19,12987	GT:AD:DP:GQ:PL	0/1:12,3:15:59:59,0,386
chr1	30941125	rs3795433	T	C	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.911;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.032;SOR=1.009;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795433;dbSNPBuildID=107;ANN=C|sequence_feature|LOW|PUM1|PUM1|miscellaneous-region:Guanine-nucleotide_binding_in_RNA_target|NM_001020658.1|protein_coding|20/21|c.3242+26A>G||||||,C|sequence_feature|LOW|PUM1|PUM1|miscellaneous-region:Guanine-nucleotide_binding_in_RNA_target|NM_014676.2|protein_coding|20/21|c.3236+26A>G||||||,C|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_001020658.1|protein_coding|20/21|c.3242+26A>G||||||,C|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_014676.2|protein_coding|20/21|c.3236+26A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=615;p3_1000G_AF=0.122804;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=18430;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.0785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31413972;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=76,4330;ESP6500_AA_AGE=66.4+/-103.9;ESP6500_AA_GTC=1,74,2128;ESP6500_CDS_SIZES=NM_014676.2:3561,NM_001020658.1:3567;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=106;ESP6500_EA_AC=547,8053;ESP6500_EA_AGE=150.4+/-205.3;ESP6500_EA_GTC=13,521,3766;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014676.2:intron,NM_001020658.1:intron;ESP6500_GL=PUM1;ESP6500_GRCh38_POSITION=1:30941125;ESP6500_GTC=14,595,5894;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014676.2:c.3236+26A>G,NM_001020658.1:c.3242+26A>G;ESP6500_MAF=6.3605,1.7249,4.7901;ESP6500_TAC=623,12383	GT:AD:DP:GQ:PL	0/1:14,14:28:99:361,0,335
chr1	30941344	rs561444145	T	C	22.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=-0.207;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_001020658.1|protein_coding|19/21|c.3121-72A>G||||||,C|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_014676.2|protein_coding|19/21|c.3115-72A>G||||||	GT:AD:DP:GQ:PL	0/1:9,2:11:51:51,0,323
chr1	30942193	rs4949187	A	T	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.97;ReadPosRankSum=1.67;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4949187;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_001020658.1|protein_coding|18/21|c.2995-70T>A||||||,T|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_014676.2|protein_coding|18/21|c.2989-70T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1729;p3_1000G_AF=0.345248;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=4778;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31415040;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:51:175,0,51
chr1	30953968	rs2275741	A	G	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.54;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.216;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275741;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|PUM1|PUM1|transcript|NM_001020658.1|protein_coding|15/22|c.2337T>C|p.Asn779Asn|2450/5385|2337/3567|779/1188||,G|synonymous_variant|LOW|PUM1|PUM1|transcript|NM_014676.2|protein_coding|15/22|c.2337T>C|p.Asn779Asn|2450/5379|2337/3561|779/1186||,G|upstream_gene_variant|MODIFIER|SNORD103A|SNORD103A.2|transcript|NR_004054.2.2|pseudogene||n.-4763T>C|||||4763|,G|upstream_gene_variant|MODIFIER|SNORD103B|SNORD103B.2|transcript|NR_033295.1.2|pseudogene||n.-4763T>C|||||4763|;p3_1000G_AA=G|||;p3_1000G_AC=1790;p3_1000G_AF=0.357428;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.4726;p3_1000G_AN=5008;p3_1000G_DP=19157;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.3767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31426815;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1356,3050;ESP6500_AA_AGE=690.7+/-405.3;ESP6500_AA_GTC=226,904,1073;ESP6500_CDS_SIZES=NM_014676.2:3561,NM_001020658.1:3567;ESP6500_CG=-4.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=82;ESP6500_EA_AC=3437,5163;ESP6500_EA_AGE=637.2+/-399.2;ESP6500_EA_GTC=680,2077,1543;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014676.2:coding-synonymous,NM_001020658.1:coding-synonymous;ESP6500_GL=PUM1;ESP6500_GRCh38_POSITION=1:30953968;ESP6500_GTC=906,2981,2616;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014676.2:c.2337T>C,NM_001020658.1:c.2337T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014676.2:p.(N779),NM_001020658.1:p.(N779);ESP6500_MAF=39.9651,30.7762,36.8522;ESP6500_TAC=4793,8213	GT:AD:DP:GQ:PL	0/1:12,6:18:99:197,0,343
chr1	31005791	rs66522510	AAGAGAGAGAG	A	693.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.24;SOR=2.833;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs66522510,rs71682376;dbSNPBuildID=135;ANN=A|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_001020658.1|protein_coding|5/21|c.720+52_720+61delCTCTCTCTCT||||||,A|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_014676.2|protein_coding|5/21|c.720+52_720+61delCTCTCTCTCT||||||	GT:AD:DP:GQ:PL	1/0:0,7:7:99:731,440,436
chr1	31005791	.	AAGAGAGAGAG	AAGAG	693.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.24;SOR=2.833;DEL;HET;VARTYPE=DEL;ANN=AAGAG|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_001020658.1|protein_coding|5/21|c.720+52_720+57delCTCTCT||||||,AAGAG|intron_variant|MODIFIER|PUM1|PUM1|transcript|NM_014676.2|protein_coding|5/21|c.720+52_720+57delCTCTCT||||||	GT:AD:DP:GQ:PL	0/1:0,11:11:99:731,294,261
chr1	31182669	rs74783240	T	C	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.707;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.762;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74783240;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|NKAIN1|NKAIN1|transcript|NM_024522.2|protein_coding|4/6|c.472-79A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=191;p3_1000G_AF=0.038139;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=17306;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31655516;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,12:25:99:329,0,365
chr1	31185094	rs116236549	A	G	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.87;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.731;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116236549;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|NKAIN1|NKAIN1|transcript|NM_024522.2|protein_coding|3/6|c.273+153T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=190;p3_1000G_AF=0.0379393;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=19774;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31657941;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:216,0,245
chr1	31259941	rs2292164	C	T	702.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292164;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|SNRNP40|SNRNP40|transcript|NM_004814.2|protein_coding|10/10|c.*131G>A|||||131|;p3_1000G_AA=C|||;p3_1000G_AC=176;p3_1000G_AF=0.0351438;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16341;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31732788;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:731,69,0
chr1	31291866	rs142762586;rs71028753;~rs111660652	C	CAAG	1638.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.55;SOR=0.984;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs71028753,rs142762586;dbSNPBuildID=134,130;ANN=CAAG|intron_variant|MODIFIER|SNRNP40|SNRNP40|transcript|NM_004814.2|protein_coding|3/9|c.365+44_365+46dupCTT||||||;p3_1000G_AC=2239;p3_1000G_AF=0.447085;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=19422;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.6223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31764713;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=INDEL;ESP6500_AA_AC=1990,2276;ESP6500_AA_GTC=452,1086,595;ESP6500_CDS_SIZES=NM_004814.2:1074;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=113;ESP6500_EA_AC=5184,3070;ESP6500_EA_GTC=1646,1892,589;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004814.2:intron;ESP6500_GL=SNRNP40;ESP6500_GRCh38_POSITION=1:31291866;ESP6500_GTC=2098,2978,1184;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004814.2:c.365+46_365+47insCTT;ESP6500_MAF=37.1941,46.6479,42.6997;ESP6500_TAC=7174,5346	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1676,114,0
chr1	31292083	rs10733007	T	C	660.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.41;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10733007;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282566.1|protein_coding||c.-4999T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282567.1|protein_coding||c.-27032T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282568.1|protein_coding||c.-18016T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282569.1|protein_coding||c.-26112T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282570.1|protein_coding||c.-27032T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282571.1|protein_coding||c.-27045T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282572.1|protein_coding||c.-18016T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282573.1|protein_coding||c.-26112T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282574.1|protein_coding||c.-18016T>C|||||4899|,C|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_016505.3|protein_coding||c.-18016T>C|||||4899|,C|intron_variant|MODIFIER|SNRNP40|SNRNP40|transcript|NM_004814.2|protein_coding|2/9|c.272-77A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19423;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31764930;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:689,51,0
chr1	31296567	rs3737753	G	A	859.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.65;SOR=2.546;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737753;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282566.1|protein_coding||c.-515G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282567.1|protein_coding||c.-22548G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282568.1|protein_coding||c.-13532G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282569.1|protein_coding||c.-21628G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282570.1|protein_coding||c.-22548G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282571.1|protein_coding||c.-22561G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282572.1|protein_coding||c.-13532G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282573.1|protein_coding||c.-21628G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282574.1|protein_coding||c.-13532G>A|||||415|,A|upstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_016505.3|protein_coding||c.-13532G>A|||||415|,A|intron_variant|MODIFIER|SNRNP40|SNRNP40|transcript|NM_004814.2|protein_coding|1/9|c.141+44C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=169;p3_1000G_AF=0.033746;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19149;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31769414;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2,4394;ESP6500_AA_GTC=0,2,2196;ESP6500_CDS_SIZES=NM_004814.2:1074;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=40;ESP6500_EA_AC=2,8590;ESP6500_EA_GTC=0,2,4294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004814.2:intron;ESP6500_GL=SNRNP40;ESP6500_GRCh38_POSITION=1:31296567;ESP6500_GTC=0,4,6490;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004814.2:c.141+44C>T;ESP6500_MAF=0.0233,0.0455,0.0308;ESP6500_TAC=4,12984	GT:AD:DP:GQ:PL	1/1:0,29:29:85:888,85,0
chr1	31310304	rs78423071	A	G	418.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78423071;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282566.1|protein_coding|1/6|c.133-8805A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282567.1|protein_coding|1/6|c.-6-8805A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282568.1|protein_coding|2/7|c.66+140A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282569.1|protein_coding|2/8|c.-29+140A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282570.1|protein_coding|1/6|c.-6-8805A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282571.1|protein_coding|2/6|c.-20+140A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282572.1|protein_coding|2/5|c.66+140A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282573.1|protein_coding|2/6|c.-29+140A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282574.1|protein_coding|2/6|c.66+140A>G||||||,G|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_016505.3|protein_coding|2/7|c.66+140A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=319;p3_1000G_AF=0.0636981;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=20482;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31783151;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:447,39,0
chr1	31338937	rs139788109	C	CT	407.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.18;SOR=1.473;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs139788109;dbSNPBuildID=134;ANN=CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282566.1|protein_coding|3/6|c.292-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282567.1|protein_coding|3/6|c.154-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282568.1|protein_coding|4/7|c.226-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282569.1|protein_coding|5/8|c.202-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282570.1|protein_coding|3/6|c.154-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282571.1|protein_coding|3/6|c.40-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282572.1|protein_coding|4/5|c.226-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282573.1|protein_coding|5/6|c.202-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282574.1|protein_coding|4/6|c.226-13dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_016505.3|protein_coding|4/7|c.226-13dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;p3_1000G_AC=172;p3_1000G_AF=0.034345;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19297;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31811784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=INDEL;ESP6500_AA_AC=4,4260;ESP6500_AA_GTC=0,4,2128;ESP6500_CDS_SIZES=NM_016505.2:726;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=48;ESP6500_EA_AC=2,8252;ESP6500_EA_GTC=0,2,4125;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016505.2:intron;ESP6500_GL=ZCCHC17;ESP6500_GRCh38_POSITION=1:31338937;ESP6500_GTC=0,6,6253;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_016505.2:c.226-20_226-19insT;ESP6500_MAF=0.0242,0.0938,0.0479;ESP6500_TAC=6,12512	GT:AD:DP:GQ:PL	1/1:0,15:15:45:445,45,0
chr1	31366062	rs200573331	ATGTG	A	964.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.96;SOR=2.925;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200573331;dbSNPBuildID=137;ANN=A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282566.1|protein_coding||c.*1870_*1873delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282567.1|protein_coding||c.*1870_*1873delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282568.1|protein_coding||c.*1870_*1873delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282569.1|protein_coding||c.*1870_*1873delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282570.1|protein_coding||c.*1870_*1873delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282571.1|protein_coding||c.*1870_*1873delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282572.1|protein_coding||c.*1842_*1845delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282573.1|protein_coding||c.*1842_*1845delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_001282574.1|protein_coding||c.*2009_*2012delTGTG|||||1110|,A|downstream_gene_variant|MODIFIER|ZCCHC17|ZCCHC17|transcript|NM_016505.3|protein_coding||c.*1870_*1873delTGTG|||||1110|,A|intron_variant|MODIFIER|FABP3|FABP3|transcript|NM_001320996.1|protein_coding|3/3|c.382-127_382-124delCACA||||||,A|intron_variant|MODIFIER|FABP3|FABP3|transcript|NM_004102.4|protein_coding|3/3|c.349-127_349-124delCACA||||||	GT:AD:DP:GQ:PL	1/1:0,21:21:72:990,72,0
chr1	31409735	rs4012494;rs6143179	G	GGCCTCA	1402.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=1.402;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs4012494,rs6143179;dbSNPBuildID=108,130;ANN=GGCCTCA|5_prime_UTR_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|1/11|c.-100_-99insTCAGCC|||||99|INFO_REALIGN_3_PRIME,GGCCTCA|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding||c.-650_-649insGCCTCA|||||438|,GGCCTCA|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding||c.-3531_-3530insGCCTCA|||||3380|,GGCCTCA|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding||c.-14084_-14083insGCCTCA|||||4077|,GGCCTCA|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding||c.-4279_-4278insGCCTCA|||||4077|;p3_1000G_AC=2972;p3_1000G_AF=0.59345;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=18811;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31882582;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,31:31:96:1440,96,0
chr1	31409883	rs79496449	G	A	907.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs79496449;dbSNPBuildID=132;ANN=A|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding||c.-502G>A|||||291|,A|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding||c.-3383G>A|||||3233|,A|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding||c.-13936G>A|||||3930|,A|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding||c.-4131G>A|||||3930|,A|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|1/10|c.15+31G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=166;p3_1000G_AF=0.033147;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18735;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31882730;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:936,81,0
chr1	31410448	rs6701521	T	C	230.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6701521;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding||c.-2818T>C|||||2668|,C|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding||c.-13371T>C|||||3365|,C|upstream_gene_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding||c.-3566T>C|||||3365|,C|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|2/10|c.66+13T>C||||||,C|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding|1/9|c.51+13T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2972;p3_1000G_AF=0.59345;p3_1000G_AFR_AF=0.5295;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=6427;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.4384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31883295;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:259,21,0
chr1	31413986	rs10914377	T	C	691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10914377;dbSNPBuildID=120;ANN=C|5_prime_UTR_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding|1/11|c.-953T>C|||||9833|,C|5_prime_UTR_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding|1/10|c.-28T>C|||||28|,C|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|2/10|c.66+3551T>C||||||,C|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding|1/9|c.51+3551T>C||||||,C|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding|1/9|c.39+682T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2968;p3_1000G_AF=0.592652;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=12156;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.4374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31886833;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:720,66,0
chr1	31424646	rs1320585	A	G	568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.53;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1320585;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|3/10|c.229-37A>G||||||,G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding|2/9|c.214-37A>G||||||,G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding|2/9|c.202-37A>G||||||,G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding|3/10|c.37-37A>G||||||,G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding|2/9|c.214-37A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4553;p3_1000G_AF=0.909145;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=16106;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31897493;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3400,990;ESP6500_AA_GTC=1317,766,112;ESP6500_CDS_SIZES=NM_178865.4:1368,NM_018565.3:1380,NM_001199039.1:1203,NM_001199038.1:1395,NM_001199037.1:1380;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=17;ESP6500_EA_AC=8537,11;ESP6500_EA_GTC=4263,11,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178865.4:intron,NM_018565.3:intron,NM_001199039.1:intron,NM_001199038.1:intron,NM_001199037.1:intron;ESP6500_GL=SERINC2;ESP6500_GRCh38_POSITION=1:31424646;ESP6500_GTC=5580,777,112;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178865.4:c.202-37A>G,NM_018565.3:c.214-37A>G,NM_001199039.1:c.37-37A>G,NM_001199038.1:c.229-37A>G,NM_001199037.1:c.214-37A>G;ESP6500_MAF=0.1287,22.5513,7.7369;ESP6500_TAC=11937,1001	GT:AD:DP:GQ:PL	1/1:0,16:16:48:597,48,0
chr1	31425387	rs4949402	T	C	2901.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=1.259;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4949402;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|5/11|c.477T>C|p.Ile159Ile|750/2149|477/1395|159/464||,C|synonymous_variant|LOW|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding|4/10|c.462T>C|p.Ile154Ile|673/2072|462/1380|154/459||,C|synonymous_variant|LOW|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding|4/10|c.450T>C|p.Ile150Ile|600/1999|450/1368|150/455||,C|synonymous_variant|LOW|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding|5/11|c.285T>C|p.Ile95Ile|1411/2810|285/1203|95/400||,C|synonymous_variant|LOW|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding|4/10|c.462T>C|p.Ile154Ile|663/2062|462/1380|154/459||;p3_1000G_AA=C|||;p3_1000G_AC=1753;p3_1000G_AF=0.35004;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=17927;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.5596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31898234;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1019,3387;ESP6500_AA_AGE=727.8+/-409.9;ESP6500_AA_GTC=136,747,1320;ESP6500_CDS_SIZES=NM_178865.4:1368,NM_018565.3:1380,NM_001199039.1:1203,NM_001199038.1:1395,NM_001199037.1:1380;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=124;ESP6500_EA_AC=4881,3719;ESP6500_EA_AGE=530.7+/-381.8;ESP6500_EA_GTC=1415,2051,834;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178865.4:coding-synonymous,NM_018565.3:coding-synonymous,NM_001199039.1:coding-synonymous,NM_001199038.1:coding-synonymous,NM_001199037.1:coding-synonymous;ESP6500_GL=SERINC2;ESP6500_GRCh38_POSITION=1:31425387;ESP6500_GTC=1551,2798,2154;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178865.4:c.450T>C,NM_018565.3:c.462T>C,NM_001199039.1:c.285T>C,NM_001199038.1:c.477T>C,NM_001199037.1:c.462T>C;ESP6500_HGVS_PROTEIN_VAR=NM_178865.4:p.(I150),NM_018565.3:p.(I154),NM_001199039.1:p.(I95),NM_001199038.1:p.(I159),NM_001199037.1:p.(I154);ESP6500_MAF=43.2442,23.1276,45.3637;ESP6500_TAC=5900,7106	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2930,258,0
chr1	31426837	rs10454445	A	T	1180.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10454445;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|7/10|c.807+14A>T||||||,T|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding|6/9|c.792+14A>T||||||,T|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding|6/9|c.780+14A>T||||||,T|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding|7/10|c.615+14A>T||||||,T|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding|6/9|c.792+14A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4570;p3_1000G_AF=0.91254;p3_1000G_AFR_AF=0.6861;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=7893;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31899684;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3399,1007;ESP6500_AA_AGE=374.2+/-321.1;ESP6500_AA_GTC=1316,767,120;ESP6500_CDS_SIZES=NM_178865.4:1368,NM_018565.3:1380,NM_001199039.1:1203,NM_001199038.1:1395,NM_001199037.1:1380;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=93;ESP6500_EA_AC=8591,9;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=4291,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178865.4:intron,NM_018565.3:intron,NM_001199039.1:intron,NM_001199038.1:intron,NM_001199037.1:intron;ESP6500_GL=SERINC2;ESP6500_GRCh38_POSITION=1:31426837;ESP6500_GTC=5607,776,120;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_178865.4:c.780+14A>T,NM_018565.3:c.792+14A>T,NM_001199039.1:c.615+14A>T,NM_001199038.1:c.807+14A>T,NM_001199037.1:c.792+14A>T;ESP6500_MAF=0.1047,22.8552,7.8118;ESP6500_TAC=11990,1016	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1209,108,0
chr1	31433042	rs3050461;rs5773362	A	ACAG	3223.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.049;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=3.436;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.52;ReadPosRankSum=0.739;SOR=0.574;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3050461,rs5773362;dbSNPBuildID=102,126;ANN=ACAG|conservative_inframe_insertion|MODERATE|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|10/11|c.1129_1131dupCAG|p.Gln377dup|1405/2149|1132/1395|378/464||INFO_REALIGN_3_PRIME,ACAG|conservative_inframe_insertion|MODERATE|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding|9/10|c.1114_1116dupCAG|p.Gln372dup|1328/2072|1117/1380|373/459||INFO_REALIGN_3_PRIME,ACAG|conservative_inframe_insertion|MODERATE|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding|9/10|c.1102_1104dupCAG|p.Gln368dup|1255/1999|1105/1368|369/455||INFO_REALIGN_3_PRIME,ACAG|conservative_inframe_insertion|MODERATE|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding|10/11|c.937_939dupCAG|p.Gln313dup|2066/2810|940/1203|314/400||INFO_REALIGN_3_PRIME,ACAG|conservative_inframe_insertion|MODERATE|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding|9/10|c.1114_1116dupCAG|p.Gln372dup|1318/2062|1117/1380|373/459||INFO_REALIGN_3_PRIME;p3_1000G_AC=3701;p3_1000G_AF=0.739018;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=17436;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.8598;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31905889;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,74:75:99:3261,177,0
chr1	31433253	rs78108126	G	A	1321.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78108126;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|10/10|c.1259+68G>A||||||,A|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding|9/9|c.1244+68G>A||||||,A|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding|9/9|c.1232+68G>A||||||,A|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding|10/10|c.1067+68G>A||||||,A|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding|9/9|c.1244+68G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=232;p3_1000G_AF=0.0463259;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=19564;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31906100;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1350,108,0
chr1	31434035	rs11587589	A	G	1150.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11587589;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199038.1|protein_coding|10/10|c.1260-29A>G||||||,G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199037.1|protein_coding|9/9|c.1245-29A>G||||||,G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_178865.4|protein_coding|9/9|c.1233-29A>G||||||,G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_001199039.1|protein_coding|10/10|c.1068-29A>G||||||,G|intron_variant|MODIFIER|SERINC2|SERINC2|transcript|NM_018565.3|protein_coding|9/9|c.1245-29A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4264;p3_1000G_AF=0.851438;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=18502;p3_1000G_EAS_AF=0.7331;p3_1000G_EUR_AF=0.9751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31906882;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3981,425;ESP6500_AA_AGE=206.8+/-228.3;ESP6500_AA_GTC=1799,383,21;ESP6500_CDS_SIZES=NM_178865.4:1368,NM_018565.3:1380,NM_001199039.1:1203,NM_001199038.1:1395,NM_001199037.1:1380;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=126;ESP6500_EA_AC=8437,163;ESP6500_EA_AGE=76.9+/-139.5;ESP6500_EA_GTC=4139,159,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178865.4:intron,NM_018565.3:intron,NM_001199039.1:intron,NM_001199038.1:intron,NM_001199037.1:intron;ESP6500_GL=SERINC2;ESP6500_GRCh38_POSITION=1:31434035;ESP6500_GTC=5938,542,23;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178865.4:c.1233-29A>G,NM_018565.3:c.1245-29A>G,NM_001199039.1:c.1068-29A>G,NM_001199038.1:c.1260-29A>G,NM_001199037.1:c.1245-29A>G;ESP6500_MAF=1.8953,9.6459,4.521;ESP6500_TAC=12418,588	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1179,114,0
chr1	31653746	rs376725697;rs869292279	AAC	A	20.77	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.545;SOR=1.426;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs376725697;dbSNPBuildID=138,147;ANN=A|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|69/70|c.4535-72_4535-71delGT||||||	GT:AD:DP:GQ:PL	0/1:11,3:14:58:58,0,308
chr1	31662310	rs2271927	C	T	504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.04;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271927;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|58/70|c.3681+24G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2366;p3_1000G_AF=0.472444;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=14155;p3_1000G_EAS_AF=0.6389;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32127911;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1863,2017;ESP6500_AA_GTC=446,971,523;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=33;ESP6500_EA_AC=3273,4947;ESP6500_EA_GTC=658,1957,1495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:intron;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31662310;ESP6500_GTC=1104,2928,2018;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.3681+24G>A;ESP6500_MAF=39.8175,48.0155,42.4463;ESP6500_TAC=5136,6964	GT:AD:DP:GQ:PL	1/1:0,18:18:54:533,54,0
chr1	31662352	rs2271928	G	A	525.88	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.687;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=25.04;ReadPosRankSum=1.08;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271928;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|58/71|c.3663C>T|p.Asp1221Asp|4028/5584|3663/4815|1221/1604||;p3_1000G_AA=G|||;p3_1000G_AC=2363;p3_1000G_AF=0.471845;p3_1000G_AFR_AF=0.5174;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=14434;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32127953;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1855,2017;ESP6500_AA_GTC=441,973,522;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=-2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=42;ESP6500_EA_AC=3290,4958;ESP6500_EA_GTC=658,1974,1492;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:coding-synonymous;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31662352;ESP6500_GTC=1099,2947,2014;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.3663C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001856.3:p.(D1221);ESP6500_MAF=39.8885,47.9081,42.4505;ESP6500_TAC=5145,6975	GT:AD:DP:GQ:PL	1/1:2,19:21:16:554,16,0
chr1	31662682	rs1568396	C	G	240.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.77;ReadPosRankSum=0.282;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1568396;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|56/70|c.3556-24G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2553;p3_1000G_AF=0.509784;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=8063;p3_1000G_EAS_AF=0.6825;p3_1000G_EUR_AF=0.4563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32128283;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1922,1022;ESP6500_AA_GTC=649,624,199;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=6;ESP6500_EA_AC=3628,2782;ESP6500_EA_GTC=1151,1326,728;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:intron;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31662682;ESP6500_GTC=1800,1950,927;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.3556-24G>C;ESP6500_MAF=43.4009,34.7147,40.6671;ESP6500_TAC=5550,3804	GT:AD:DP:GQ:PL	0/1:1,8:9:15:269,0,15
chr1	31665219	rs749874505	G	A	479.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.918;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.243;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.286;SOR=0.791;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|56/71|c.3508C>T|p.Pro1170Ser|3873/5584|3508/4815|1170/1604||	GT:AD:DP:GQ:PL	0/1:17,22:39:99:508,0,480
chr1	31668136	rs2292988	C	T	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.797;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=0.465;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292988;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|51/70|c.3303+29G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1588;p3_1000G_AF=0.317093;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=16042;p3_1000G_EAS_AF=0.5883;p3_1000G_EUR_AF=0.337;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32133737;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=474,3312;ESP6500_AA_GTC=29,416,1448;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=46;ESP6500_EA_AC=2891,5377;ESP6500_EA_GTC=515,1861,1758;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:intron;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31668136;ESP6500_GTC=544,2277,3206;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.3303+29G>A;ESP6500_MAF=34.9661,12.5198,27.916;ESP6500_TAC=3365,8689	GT:AD:DP:GQ:PL	0/1:13,7:20:99:128,0,378
chr1	31670567	rs2292990	G	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.053;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.59;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292990;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|49/70|c.3195+35C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1705;p3_1000G_AF=0.340455;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=16075;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.335;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32136168;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:178,0,297
chr1	31679408	rs4949461	C	T	644.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=2.531;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4949461;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|42/70|c.2772+224G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4824;p3_1000G_AF=0.963259;p3_1000G_AFR_AF=0.8714;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18374;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32145009;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:673,60,0
chr1	31682970	rs10737358	A	G	1226.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10737358;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|37/71|c.2502T>C|p.Pro834Pro|2867/5584|2502/4815|834/1604||;p3_1000G_AA=G|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18910;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32148571;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3887,9;ESP6500_AA_GTC=1939,9,0;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=55;ESP6500_EA_AC=8274,0;ESP6500_EA_GTC=4137,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:coding-synonymous;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31682970;ESP6500_GTC=6076,9,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.2502T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001856.3:p.(P834);ESP6500_MAF=0.0,0.231,0.074;ESP6500_TAC=12161,9	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1255,114,0
chr1	31689683	rs2297682	T	C	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.11;ReadPosRankSum=0.366;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297682;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|23/70|c.1620+58A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2396;p3_1000G_AF=0.478435;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=19775;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.5686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32155284;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:64:64,0,166
chr1	31690310	rs6425780	G	T	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.14;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=10.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=2.5;SOR=4.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6425780;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|22/70|c.1509+57C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2186;p3_1000G_AF=0.436502;p3_1000G_AFR_AF=0.6929;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=18614;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.5646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32155911;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=911,473;ESP6500_AA_GTC=306,299,87;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=77;ESP6500_EA_AC=1737,1445;ESP6500_EA_GTC=488,761,342;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:intron;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31690310;ESP6500_GTC=794,1060,429;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.1509+57C>A;ESP6500_MAF=45.4117,34.1763,42.0061;ESP6500_TAC=2648,1918	GT:AD:DP:GQ:PL	0/1:9,9:18:99:285,0,188
chr1	31690328	rs2297681	G	A	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.78;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=11.974;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.09;SOR=3.433;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297681;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|22/70|c.1509+39C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1524;p3_1000G_AF=0.304313;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=18291;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.4791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32155929;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1286,2624;ESP6500_AA_GTC=207,872,876;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=3776,4510;ESP6500_EA_GTC=892,1992,1259;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:intron;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31690328;ESP6500_GTC=1099,2864,2135;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.1509+39C>T;ESP6500_MAF=45.5708,32.89,41.5054;ESP6500_TAC=5062,7134	GT:AD:DP:GQ:PL	0/1:11,11:22:99:305,0,251
chr1	31691121	rs10914467	G	A	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.2;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=1.34;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10914467;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|20/70|c.1437+67C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1457;p3_1000G_AF=0.290935;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=16691;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.5328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32156722;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=384,1000;ESP6500_AA_GTC=51,282,359;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=24;ESP6500_EA_AC=1613,1569;ESP6500_EA_GTC=419,775,397;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:intron;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31691121;ESP6500_GTC=470,1057,756;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.1437+67C>T;ESP6500_MAF=49.3086,27.7457,43.7363;ESP6500_TAC=1997,2569	GT:AD:DP:GQ:PL	0/1:9,16:25:99:386,0,183
chr1	31691268	rs10798884	A	T	814.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10798884;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|19/70|c.1399-42T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17421;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32156869;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3897,11;ESP6500_AA_GTC=1943,11,0;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=8276,0;ESP6500_EA_GTC=4138,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001856.3:intron;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31691268;ESP6500_GTC=6081,11,0;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.1399-42T>A;ESP6500_MAF=0.0,0.2815,0.0903;ESP6500_TAC=12173,11	GT:AD:DP:GQ:PL	1/1:0,25:25:75:843,75,0
chr1	31691930	rs2297676	T	C	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.391;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.03;ReadPosRankSum=1.1;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297676;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|17/70|c.1257+75A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1522;p3_1000G_AF=0.303914;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=14592;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.5348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32157531;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,19:27:99:542,0,183
chr1	31692773	rs3818788	T	C	870.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=0.742;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818788;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|14/71|c.1107A>G|p.Pro369Pro|1472/5584|1107/4815|369/1604||;p3_1000G_AA=C|||;p3_1000G_AC=3157;p3_1000G_AF=0.630391;p3_1000G_AFR_AF=0.7663;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=17205;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.6491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32158374;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2904,1054;ESP6500_AA_GTC=1071,762,146;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=-8.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=55;ESP6500_EA_AC=5304,2962;ESP6500_EA_GTC=1730,1844,559;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001856.3:coding-synonymous;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31692773;ESP6500_GTC=2801,2606,705;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.1107A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001856.3:p.(P369);ESP6500_MAF=35.8335,26.6296,32.8534;ESP6500_TAC=8208,4016	GT:AD:DP:GQ:PL	0/1:25,34:59:99:899,0,587
chr1	31693987	rs2275097	A	C	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.098;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.778;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.708;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275097;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|12/70|c.1008+157T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3154;p3_1000G_AF=0.629792;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=23630;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32159588;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:253,0,188
chr1	31695317	rs6656079	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.276;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.476;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6656079;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|10/70|c.946-96T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2942;p3_1000G_AF=0.58746;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=13613;p3_1000G_EAS_AF=0.3611;p3_1000G_EUR_AF=0.6521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32160918;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:255,0,287
chr1	31698349	rs2297674	G	C	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.998;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297674;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|5/70|c.390+134C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2800;p3_1000G_AF=0.559105;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=18493;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.6541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32163950;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:175,0,220
chr1	31698605	rs2228550	T	G	452.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.045;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-1.252;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228550;dbSNPBuildID=129;ANN=G|splice_region_variant&synonymous_variant|LOW|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|5/71|c.268A>C|p.Arg90Arg|633/5584|268/4815|90/1604||;p3_1000G_AA=G|||;p3_1000G_AC=3134;p3_1000G_AF=0.625799;p3_1000G_AFR_AF=0.82;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=17431;p3_1000G_EAS_AF=0.3472;p3_1000G_EUR_AF=0.6541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32164206;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3112,820;ESP6500_AA_GTC=1245,622,99;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=56;ESP6500_EA_AC=5386,2900;ESP6500_EA_GTC=1767,1852,524;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001856.3:coding-synonymous-near-splice;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31698605;ESP6500_GTC=3012,2474,623;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.268A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001856.3:p.(R90);ESP6500_MAF=34.9988,20.8545,30.4469;ESP6500_TAC=8498,3720	GT:AD:DP:GQ:PL	0/1:12,16:28:99:481,0,378
chr1	31699894	rs2228552	G	T	813.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.333;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=3.247;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.161;SOR=0.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228552;dbSNPBuildID=105;ANN=T|missense_variant|MODERATE|COL16A1|COL16A1|transcript|NM_001856.3|protein_coding|4/71|c.185C>A|p.Thr62Lys|550/5584|185/4815|62/1604||;p3_1000G_AA=g|||;p3_1000G_AC=2140;p3_1000G_AF=0.427316;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=18858;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.6481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32165495;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP;ESP6500_AA_AC=1393,2625;ESP6500_AA_GTC=248,897,864;ESP6500_CDS_SIZES=NM_001856.3:4815;ESP6500_CG=-2.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=103;ESP6500_EA_AC=5284,3044;ESP6500_EA_GTC=1698,1888,578;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001856.3:missense;ESP6500_GL=COL16A1;ESP6500_GRCh38_POSITION=1:31699894;ESP6500_GS=78;ESP6500_GTC=1946,2785,1442;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001856.3:c.185C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001856.3:p.(T62K);ESP6500_MAF=36.5514,34.669,45.9177;ESP6500_PH=probably-damaging:0.969;ESP6500_TAC=6677,5669	GT:AD:DP:GQ:PL	0/1:40,35:75:99:842,0,1127
chr1	31728046	rs1127100	T	C	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.705;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=2.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.699;SOR=0.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1127100;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|ADGRB2|ADGRB2|transcript|NM_001294335.1|protein_coding|32/33|c.4548A>G|p.Ala1516Ala|4918/5440|4548/4755|1516/1584||,C|synonymous_variant|LOW|ADGRB2|ADGRB2|transcript|NM_001294336.1|protein_coding|31/32|c.4449A>G|p.Ala1483Ala|4819/5341|4449/4656|1483/1551||;p3_1000G_AA=C|||;p3_1000G_AC=3025;p3_1000G_AF=0.604034;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.5159;p3_1000G_AN=5008;p3_1000G_DP=13392;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.6531;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32193647;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3482,898;ESP6500_AA_GTC=1394,694,102;ESP6500_CDS_SIZES=NM_001703.2:4758;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=19;ESP6500_EA_AC=5523,3035;ESP6500_EA_GTC=1820,1883,576;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001703.2:coding-synonymous;ESP6500_GL=BAI2;ESP6500_GRCh38_POSITION=1:31728046;ESP6500_GTC=3214,2577,678;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001703.2:c.4551A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001703.2:p.(A1517);ESP6500_MAF=35.4639,20.5023,30.3988;ESP6500_TAC=9005,3933	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,18:39:99:1|0:31728043_G_T:474,0,602
chr1	31731046	rs909001	C	G	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.346;SOR=1.262;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs909001;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ADGRB2|ADGRB2|transcript|NM_001294335.1|protein_coding|29/33|c.4134G>C|p.Pro1378Pro|4504/5440|4134/4755|1378/1584||,G|synonymous_variant|LOW|ADGRB2|ADGRB2|transcript|NM_001294336.1|protein_coding|28/32|c.4035G>C|p.Pro1345Pro|4405/5341|4035/4656|1345/1551||;p3_1000G_AA=G|||;p3_1000G_AC=1930;p3_1000G_AF=0.385383;p3_1000G_AFR_AF=0.7579;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=12912;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32196647;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2507,1833;ESP6500_AA_GTC=741,1025,404;ESP6500_CDS_SIZES=NM_001703.2:4758;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=10;ESP6500_EA_AC=1364,7136;ESP6500_EA_GTC=119,1126,3005;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001703.2:coding-synonymous;ESP6500_GL=BAI2;ESP6500_GRCh38_POSITION=1:31731046;ESP6500_GTC=860,2151,3409;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001703.2:c.4134G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001703.2:p.(P1378);ESP6500_MAF=16.0471,42.235,30.148;ESP6500_TAC=3871,8969	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,17:42:99:0|1:31731045_C_A:436,0,586
chr1	31738680	rs77039877	C	T	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.089;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.318;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77039877;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|ADGRB2|ADGRB2|transcript|NM_001294335.1|protein_coding|16/32|c.2602-50G>A||||||,T|intron_variant|MODIFIER|ADGRB2|ADGRB2|transcript|NM_001294336.1|protein_coding|16/31|c.2602-50G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=27;p3_1000G_AF=0.00539137;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=18644;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32204281;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=11.4+/-27.6;ESP6500_AA_GTC=0,6,2197;ESP6500_CDS_SIZES=NM_001703.2:4758;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=52;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001703.2:intron;ESP6500_GL=BAI2;ESP6500_GRCh38_POSITION=1:31738680;ESP6500_GTC=0,7,6496;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001703.2:c.2602-50G>A;ESP6500_MAF=0.0116,0.1362,0.0538;ESP6500_TAC=7,12999	GT:AD:DP:GQ:PL	0/1:15,13:28:99:381,0,468
chr1	31739653	rs12749187	T	G	595.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.07;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=7.558;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=1.26;SOR=1.388;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12749187;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|ADGRB2|ADGRB2|transcript|NM_001294335.1|protein_coding|14/32|c.2168-18A>C||||||,G|intron_variant|MODIFIER|ADGRB2|ADGRB2|transcript|NM_001294336.1|protein_coding|14/31|c.2168-18A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=379;p3_1000G_AF=0.0756789;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=20569;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.0368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32205254;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=576,3722;ESP6500_AA_GTC=43,490,1616;ESP6500_CDS_SIZES=NM_001703.2:4758;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=22;ESP6500_EA_AC=228,8218;ESP6500_EA_GTC=3,222,3998;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001703.2:intron;ESP6500_GL=BAI2;ESP6500_GRCh38_POSITION=1:31739653;ESP6500_GTC=46,712,5614;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001703.2:c.2168-18A>C;ESP6500_MAF=2.6995,13.4016,6.3089;ESP6500_TAC=804,11940	GT:AD:DP:GQ:PL	0/1:15,21:36:99:624,0,366
chr1	31741980	rs2297600	T	G	1031.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.73;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=2.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.897;SOR=0.422;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297600;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ADGRB2|ADGRB2|transcript|NM_001294335.1|protein_coding|8/32|c.1418-13A>C||||||,G|intron_variant|MODIFIER|ADGRB2|ADGRB2|transcript|NM_001294336.1|protein_coding|8/31|c.1418-13A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1919;p3_1000G_AF=0.383187;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=18534;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32207581;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2862,1544;ESP6500_AA_AGE=479.0+/-358.4;ESP6500_AA_GTC=936,990,277;ESP6500_CDS_SIZES=NM_001703.2:4758;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=1504,7096;ESP6500_EA_AGE=729.2+/-406.7;ESP6500_EA_GTC=130,1244,2926;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001703.2:intron;ESP6500_GL=BAI2;ESP6500_GRCh38_POSITION=1:31741980;ESP6500_GTC=1066,2234,3203;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001703.2:c.1418-13A>C;ESP6500_MAF=17.4884,35.0431,33.5691;ESP6500_TAC=4366,8640	GT:AD:DP:GQ:PL	0/1:48,34:82:99:1060,0,1230
chr1	31764679	rs71516323	C	T	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.584;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.092;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71516323;dbSNPBuildID=130;ANN=T|upstream_gene_variant|MODIFIER|ADGRB2|ADGRB2|transcript|NM_001294335.1|protein_coding||c.-7458G>A|||||616|,T|upstream_gene_variant|MODIFIER|ADGRB2|ADGRB2|transcript|NM_001294336.1|protein_coding||c.-7458G>A|||||616|,T|intergenic_region|MODIFIER|ADGRB2-SPOCD1|ADGRB2-SPOCD1|intergenic_region|ADGRB2-SPOCD1|||n.31764679C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=425;p3_1000G_AF=0.0848642;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=17204;p3_1000G_EAS_AF=0.0506;p3_1000G_EUR_AF=0.0368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32230280;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,19:42:99:484,0,699
chr1	31790485	rs13426	T	C	442.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13426;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_144569.5|protein_coding|16/16|c.*118A>G|||||118|,C|3_prime_UTR_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_001281987.1|protein_coding|16/16|c.*118A>G|||||118|,C|3_prime_UTR_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_001281988.1|protein_coding|15/15|c.*118A>G|||||118|;p3_1000G_AA=C|||;p3_1000G_AC=3579;p3_1000G_AF=0.714657;p3_1000G_AFR_AF=0.8676;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=21266;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.7356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32256086;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:471,36,0
chr1	31790989	rs35252813	G	A	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.837;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=9.057;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.64;SOR=1.004;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35252813;dbSNPBuildID=126;ANN=A|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_144569.5|protein_coding|16/16|c.3265C>T|p.Pro1089Ser|3395/3962|3265/3651|1089/1216||,A|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_001281987.1|protein_coding|16/16|c.3226C>T|p.Pro1076Ser|3356/3923|3226/3612|1076/1203||,A|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_001281988.1|protein_coding|15/15|c.1705C>T|p.Pro569Ser|1934/2501|1705/2091|569/696||;p3_1000G_AA=G|||;p3_1000G_AC=103;p3_1000G_AF=0.0205671;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=17269;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0.0338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32256590;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=37,4359;ESP6500_AA_GTC=1,35,2162;ESP6500_CDS_SIZES=NM_144569.4:3651;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=19;ESP6500_EA_AC=258,8332;ESP6500_EA_GTC=7,244,4044;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144569.4:missense;ESP6500_GL=SPOCD1;ESP6500_GRCh38_POSITION=1:31790989;ESP6500_GS=74;ESP6500_GTC=8,279,6206;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144569.4:c.3265C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144569.4:p.(P1089S);ESP6500_MAF=3.0035,0.8417,2.2717;ESP6500_PH=benign:0.053;ESP6500_TAC=295,12691	GT:AD:DP:GQ:PL	0/1:17,26:43:99:678,0,416
chr1	31800425	rs552124	A	G	812.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs552124;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_144569.5|protein_coding|4/15|c.1602+16T>C||||||,G|intron_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_001281987.1|protein_coding|4/15|c.1602+16T>C||||||,G|intron_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_001281988.1|protein_coding|3/14|c.81+16T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3688;p3_1000G_AF=0.736422;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=20459;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.7316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32266026;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3565,835;ESP6500_AA_GTC=1444,677,79;ESP6500_CDS_SIZES=NM_144569.4:3651;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=29;ESP6500_EA_AC=6324,2270;ESP6500_EA_GTC=2322,1680,295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144569.4:intron;ESP6500_GL=SPOCD1;ESP6500_GRCh38_POSITION=1:31800425;ESP6500_GTC=3766,2357,374;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144569.4:c.1602+16T>C;ESP6500_MAF=26.4138,18.9773,23.8956;ESP6500_TAC=9889,3105	GT:AD:DP:GQ:PL	1/1:0,25:25:75:841,75,0
chr1	31814028	rs6669563	G	A	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.064;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.533;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6669563;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_144569.5|protein_coding|2/16|c.1306C>T|p.Arg436Trp|1436/3962|1306/3651|436/1216||,A|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_001281987.1|protein_coding|2/16|c.1306C>T|p.Arg436Trp|1436/3923|1306/3612|436/1203||,A|intron_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_001281988.1|protein_coding|1/14|c.-139+1933C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1734;p3_1000G_AF=0.346246;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=18940;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32279629;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=990,3416;ESP6500_AA_AGE=365.9+/-317.6;ESP6500_AA_GTC=118,754,1331;ESP6500_CDS_SIZES=NM_144569.4:3651;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=61;ESP6500_EA_AC=3765,4835;ESP6500_EA_AGE=527.7+/-381.2;ESP6500_EA_GTC=804,2157,1339;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144569.4:missense;ESP6500_GL=SPOCD1;ESP6500_GRCh38_POSITION=1:31814028;ESP6500_GS=101;ESP6500_GTC=922,2911,2670;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144569.4:c.1306C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144569.4:p.(R436W);ESP6500_MAF=43.7791,22.4694,36.56;ESP6500_PH=possibly-damaging:0.825;ESP6500_TAC=4755,8251	GT:AD:DP:GQ:PL	0/1:13,13:26:99:341,0,362
chr1	31814768	rs35533335	G	A	546.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.519;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-1.499;SOR=0.716;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35533335;dbSNPBuildID=126;ANN=A|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_144569.5|protein_coding|2/16|c.566C>T|p.Pro189Leu|696/3962|566/3651|189/1216||,A|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_001281987.1|protein_coding|2/16|c.566C>T|p.Pro189Leu|696/3923|566/3612|189/1203||,A|intron_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_001281988.1|protein_coding|1/14|c.-139+1193C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=84;p3_1000G_AF=0.0167732;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=17152;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0.0209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32280369;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=15,4391;ESP6500_AA_AGE=21.2+/-45.6;ESP6500_AA_GTC=0,15,2188;ESP6500_CDS_SIZES=NM_144569.4:3651;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=73;ESP6500_EA_AC=153,8447;ESP6500_EA_AGE=72.9+/-135.5;ESP6500_EA_GTC=2,149,4149;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144569.4:missense;ESP6500_GL=SPOCD1;ESP6500_GRCh38_POSITION=1:31814768;ESP6500_GS=98;ESP6500_GTC=2,164,6337;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144569.4:c.566C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144569.4:p.(P189L);ESP6500_MAF=1.7791,0.3404,1.2917;ESP6500_PH=benign:0.004;ESP6500_TAC=168,12838	GT:AD:DP:GQ:PL	0/1:31,25:56:99:575,0,819
chr1	31815009	rs6664445	T	C	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=2.15;SOR=0.682;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6664445;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_144569.5|protein_coding|2/16|c.325A>G|p.Thr109Ala|455/3962|325/3651|109/1216||,C|missense_variant|MODERATE|SPOCD1|SPOCD1|transcript|NM_001281987.1|protein_coding|2/16|c.325A>G|p.Thr109Ala|455/3923|325/3612|109/1203||,C|intron_variant|MODIFIER|SPOCD1|SPOCD1|transcript|NM_001281988.1|protein_coding|1/14|c.-139+952A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3443;p3_1000G_AF=0.6875;p3_1000G_AFR_AF=0.6399;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=16234;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.673;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32280610;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2807,1599;ESP6500_AA_AGE=479.4+/-358.5;ESP6500_AA_GTC=902,1003,298;ESP6500_CDS_SIZES=NM_144569.4:3651;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=5930,2670;ESP6500_EA_AGE=414.9+/-351.6;ESP6500_EA_GTC=2029,1872,399;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144569.4:missense;ESP6500_GL=SPOCD1;ESP6500_GRCh38_POSITION=1:31815009;ESP6500_GS=58;ESP6500_GTC=2931,2875,697;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144569.4:c.325A>G;ESP6500_HGVS_PROTEIN_VAR=NM_144569.4:p.(T109A);ESP6500_MAF=31.0465,36.2914,32.8233;ESP6500_PH=benign:0.0;ESP6500_TAC=8737,4269	GT:AD:DP:GQ:PL	0/1:20,15:35:99:434,0,521
chr1	31913162	.	T	C	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.938;SOR=0.368;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|PTP4A2|PTP4A2|transcript|NM_080391.3|protein_coding|3/5|c.190-1336A>G||||||,C|intron_variant|MODIFIER|PTP4A2|PTP4A2|transcript|NM_001195100.1|protein_coding|2/3|c.190-1336A>G||||||,C|intron_variant|MODIFIER|PTP4A2|PTP4A2|transcript|NM_001195101.1|protein_coding|1/3|c.97-1336A>G||||||	GT:AD:DP:GQ:PL	0/1:5,6:11:99:169,0,121
chr1	32162846	rs565074914	A	T	71.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|KPNA6|KPNA6|transcript|NM_012316.4|protein_coding|9/13|c.911+322A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15975;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32628447;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0
chr1	32192461	rs79952364	G	GGT	1246.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=0.906;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs79952364;dbSNPBuildID=131;ANN=GGT|intron_variant|MODIFIER|TXLNA|TXLNA|transcript|NM_175852.3|protein_coding|7/10|c.1083+33_1083+34dupTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4149;p3_1000G_AF=0.828474;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=17083;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.6024;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32658062;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=INDEL;ESP6500_AA_AC=3803,461;ESP6500_AA_GTC=1700,403,29;ESP6500_CDS_SIZES=NM_175852.3:1641;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=28;ESP6500_EA_AC=5121,3133;ESP6500_EA_GTC=1589,1943,595;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175852.3:intron;ESP6500_GL=TXLNA;ESP6500_GRCh38_POSITION=1:32192461;ESP6500_GTC=3289,2346,624;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_175852.3:c.1083+31_1083+32insGT;ESP6500_MAF=37.9574,10.8114,28.7107;ESP6500_TAC=8924,3594	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1284,87,0
chr1	32207331	rs12032332	G	A	948.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.175;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.996;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=0.488;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12032332;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|IQCC|IQCC|transcript|NM_001160042.1|protein_coding|5/5|c.890G>A|p.Cys297Tyr|937/2293|890/1641|297/546||,A|missense_variant|MODERATE|IQCC|IQCC|transcript|NM_018134.2|protein_coding|5/5|c.650G>A|p.Cys217Tyr|697/2053|650/1401|217/466||,A|upstream_gene_variant|MODIFIER|DCDC2B|DCDC2B|transcript|NM_001099434.1|protein_coding||c.-1763G>A|||||1763|,A|downstream_gene_variant|MODIFIER|CCDC28B|CCDC28B|transcript|NM_001301011.1|protein_coding||c.*2533G>A|||||1941|,A|downstream_gene_variant|MODIFIER|CCDC28B|CCDC28B|transcript|NM_024296.4|protein_coding||c.*2083G>A|||||1941|;p3_1000G_AA=G|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=18092;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.0537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32672932;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=56,4350;ESP6500_AA_AGE=53.6+/-89.4;ESP6500_AA_GTC=0,56,2147;ESP6500_CDS_SIZES=NM_018134.2:1401,NM_001160042.1:1641;ESP6500_CG=-0.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=70;ESP6500_EA_AC=460,8140;ESP6500_EA_AGE=137.5+/-194.4;ESP6500_EA_GTC=21,418,3861;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018134.2:missense,NM_001160042.1:missense;ESP6500_GL=IQCC;ESP6500_GRCh38_POSITION=1:32207331;ESP6500_GS=194,194;ESP6500_GTC=21,474,6008;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018134.2:c.650G>A,NM_001160042.1:c.890G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018134.2:p.(C217Y),NM_001160042.1:p.(C297Y);ESP6500_MAF=5.3488,1.271,3.9674;ESP6500_PH=benign:0.27,benign:0.27;ESP6500_TAC=516,12490	GT:AD:DP:GQ:PL	0/1:26,38:64:99:977,0,747
chr1	32226567	rs373073695;rs545358642	AT	A	12.93	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=6.47;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs373073695;dbSNPBuildID=138,142;ANN=A|upstream_gene_variant|MODIFIER|TMEM234|TMEM234|transcript|NM_019118.4|protein_coding||c.-4246delA|||||4197|,A|upstream_gene_variant|MODIFIER|TMEM234|TMEM234|transcript|NR_133635.1|pseudogene||n.-4197delA|||||4197|,A|upstream_gene_variant|MODIFIER|TMEM234|TMEM234|transcript|NR_133636.1|pseudogene||n.-4197delA|||||4197|,A|upstream_gene_variant|MODIFIER|TMEM234|TMEM234|transcript|NR_133634.1|pseudogene||n.-4197delA|||||4197|,A|intron_variant|MODIFIER|EIF3I|EIF3I|transcript|NM_003757.3|protein_coding|7/11|c.528+54delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2198;p3_1000G_AF=0.438898;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=15530;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.3748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32692168;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	32394560	rs547329	T	C	2482.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=3.545;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs547329;dbSNPBuildID=83;ANN=C|upstream_gene_variant|MODIFIER|BSDC1|BSDC1|transcript|NM_001300958.1|protein_coding||c.-146A>G|||||99|,C|upstream_gene_variant|MODIFIER|BSDC1|BSDC1|transcript|NM_001143888.2|protein_coding||c.-146A>G|||||99|,C|upstream_gene_variant|MODIFIER|BSDC1|BSDC1|transcript|NM_001143889.2|protein_coding||c.-146A>G|||||99|,C|upstream_gene_variant|MODIFIER|BSDC1|BSDC1|transcript|NM_001143890.2|protein_coding||c.-146A>G|||||99|,C|upstream_gene_variant|MODIFIER|BSDC1|BSDC1|transcript|NM_018045.7|protein_coding||c.-146A>G|||||99|,C|upstream_gene_variant|MODIFIER|BSDC1|BSDC1|transcript|NR_125352.1|pseudogene||n.-99A>G|||||99|,C|intergenic_region|MODIFIER|BSDC1-ZBTB8B|BSDC1-ZBTB8B|intergenic_region|BSDC1-ZBTB8B|||n.32394560T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4859;p3_1000G_AF=0.970248;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=16352;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32860161;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2511,198,0
chr1	32471174	rs192107618	A	G	980.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.34;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=3.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=1.24;SOR=0.841;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs192107618;dbSNPBuildID=135;ANN=G|missense_variant|MODERATE|ZBTB8B|ZBTB8B|transcript|NM_001145720.1|protein_coding|2/4|c.550A>G|p.Lys184Glu|640/4018|550/1488|184/495||;p3_1000G_AA=A|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17588;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32936775;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,34:75:99:1009,0,1136
chr1	32632446	rs704879	A	G	476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs704879;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_178547.3|protein_coding|4/6|c.364-567T>C||||||,G|intron_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308135.1|protein_coding|3/5|c.343-567T>C||||||,G|intron_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308136.1|protein_coding|4/5|c.363+1199T>C||||||,G|intron_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308137.1|protein_coding|3/4|c.342+1199T>C||||||,G|intron_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308138.1|protein_coding|3/5|c.157-567T>C||||||,G|intron_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308139.1|protein_coding|4/6|c.157-567T>C||||||,G|intron_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308140.1|protein_coding|4/6|c.157-567T>C||||||,G|intron_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308141.1|protein_coding|4/6|c.157-567T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4820;p3_1000G_AF=0.96246;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=16117;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33098047;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:505,48,0
chr1	32651470	rs583114	T	G	457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs583114;dbSNPBuildID=83;ANN=G|upstream_gene_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_178547.3|protein_coding||c.-905A>C|||||880|,G|upstream_gene_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308135.1|protein_coding||c.-905A>C|||||880|,G|upstream_gene_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308136.1|protein_coding||c.-905A>C|||||880|,G|upstream_gene_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308137.1|protein_coding||c.-905A>C|||||880|,G|upstream_gene_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308138.1|protein_coding||c.-17447A>C|||||880|,G|upstream_gene_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308139.1|protein_coding||c.-17447A>C|||||880|,G|upstream_gene_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308140.1|protein_coding||c.-17447A>C|||||880|,G|upstream_gene_variant|MODIFIER|ZBTB8OS|ZBTB8OS|transcript|NM_001308141.1|protein_coding||c.-17447A>C|||||880|,G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|1/11|c.16+148T>G||||||,G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|1/11|c.16+148T>G||||||,G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|1/11|c.-90+38T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4834;p3_1000G_AF=0.965256;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=13625;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33117071;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:486,36,0
chr1	32662129	rs1085416	T	C	245.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1085416;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|3/11|c.310+4557T>C||||||,C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|3/11|c.307+4557T>C||||||,C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|3/11|c.205+4557T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4849;p3_1000G_AF=0.968251;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=16686;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33127730;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:274,27,0
chr1	32668367	rs2762904	T	C	371.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.8;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2762904;dbSNPBuildID=100;ANN=C|structural_interaction_variant|HIGH|RBBP4|RBBP4|interaction|2XU7:B_151-B_171:NM_005610.2|protein_coding|4/12|c.453T>C||||||,C|structural_interaction_variant|HIGH|RBBP4|RBBP4|interaction|4R7A:B_151-B_171:NM_005610.2|protein_coding|4/12|c.453T>C||||||,C|synonymous_variant|LOW|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|4/12|c.453T>C|p.Val151Val|612/7943|453/1278|151/425||,C|synonymous_variant|LOW|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|4/12|c.450T>C|p.Val150Val|609/7940|450/1275|150/424||,C|synonymous_variant|LOW|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|4/12|c.348T>C|p.Val116Val|512/7843|348/1173|116/390||;p3_1000G_AA=C|||;p3_1000G_AC=4847;p3_1000G_AF=0.967851;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=19235;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33133968;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4019,387;ESP6500_AA_AGE=192.6+/-218.0;ESP6500_AA_GTC=1832,355,16;ESP6500_CDS_SIZES=NM_005610.2:1278,NM_001135256.1:1173,NM_001135255.1:1275;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=82;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005610.2:coding-synonymous,NM_001135256.1:coding-synonymous,NM_001135255.1:coding-synonymous;ESP6500_GL=RBBP4;ESP6500_GRCh38_POSITION=1:32668367;ESP6500_GTC=6127,360,16;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005610.2:c.453T>C,NM_001135256.1:c.348T>C,NM_001135255.1:c.450T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005610.2:p.(V151),NM_001135256.1:p.(V116),NM_001135255.1:p.(V150);ESP6500_MAF=0.0581,8.7835,3.014;ESP6500_TAC=12614,392	GT:AD:DP:GQ:PL	1/1:0,11:11:33:400,33,0
chr1	32669173	rs359955	A	C	2179.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs359955;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|6/11|c.761+41A>C||||||,C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|6/11|c.758+41A>C||||||,C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|6/11|c.656+41A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2976;p3_1000G_AF=0.594249;p3_1000G_AFR_AF=0.1914;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=18595;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.7515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33134774;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7669;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1288,3118;ESP6500_AA_AGE=435.5+/-344.3;ESP6500_AA_GTC=201,886,1116;ESP6500_CDS_SIZES=NM_005610.2:1278,NM_001135256.1:1173,NM_001135255.1:1275;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=64;ESP6500_EA_AC=6595,2005;ESP6500_EA_AGE=718.9+/-406.2;ESP6500_EA_GTC=2530,1535,235;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005610.2:intron,NM_001135256.1:intron,NM_001135255.1:intron;ESP6500_GL=RBBP4;ESP6500_GRCh38_POSITION=1:32669173;ESP6500_GTC=2731,2421,1351;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005610.2:c.761+41A>C,NM_001135256.1:c.656+41A>C,NM_001135255.1:c.758+41A>C;ESP6500_MAF=23.314,29.2329,39.3895;ESP6500_TAC=7883,5123	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2208,218,0
chr1	32669388	rs359956	A	G	414.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs359956;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|7/11|c.888+31A>G||||||,G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|7/11|c.885+31A>G||||||,G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|7/11|c.783+31A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3911;p3_1000G_AF=0.78095;p3_1000G_AFR_AF=0.4902;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=16227;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.9632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33134989;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2521,1851;ESP6500_AA_GTC=744,1033,409;ESP6500_CDS_SIZES=NM_005610.2:1278,NM_001135256.1:1173,NM_001135255.1:1275;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=47;ESP6500_EA_AC=8253,341;ESP6500_EA_GTC=3963,327,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005610.2:intron,NM_001135256.1:intron,NM_001135255.1:intron;ESP6500_GL=RBBP4;ESP6500_GRCh38_POSITION=1:32669388;ESP6500_GTC=4707,1360,416;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005610.2:c.888+31A>G,NM_001135256.1:c.783+31A>G,NM_001135255.1:c.885+31A>G;ESP6500_MAF=3.9679,42.3376,16.9058;ESP6500_TAC=10774,2192	GT:AD:DP:GQ:PL	1/1:0,13:13:39:443,39,0
chr1	32672915	rs607202	A	C	2678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.89;SOR=1.013;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs607202;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|11/11|c.1212+14A>C||||||,C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|11/11|c.1209+14A>C||||||,C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|11/11|c.1107+14A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4848;p3_1000G_AF=0.968051;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=18682;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33138516;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4023,383;ESP6500_AA_AGE=184.7+/-212.0;ESP6500_AA_GTC=1834,355,14;ESP6500_CDS_SIZES=NM_005610.2:1278,NM_001135256.1:1173,NM_001135255.1:1275;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=56;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005610.2:intron,NM_001135256.1:intron,NM_001135255.1:intron;ESP6500_GL=RBBP4;ESP6500_GRCh38_POSITION=1:32672915;ESP6500_GTC=6129,360,14;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005610.2:c.1212+14A>C,NM_001135256.1:c.1107+14A>C,NM_001135255.1:c.1209+14A>C;ESP6500_MAF=0.0581,8.6927,2.9832;ESP6500_TAC=12618,388	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2707,252,0
chr1	32673004	rs1320511	T	C	1608.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1320511;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|11/11|c.1212+103T>C||||||,C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|11/11|c.1209+103T>C||||||,C|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|11/11|c.1107+103T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4160;p3_1000G_AF=0.830671;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=20172;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.9692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33138605;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1637,147,0
chr1	32673442	rs55707864	C	T	1790.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55707864;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|11/11|c.1212+541C>T||||||,T|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|11/11|c.1209+541C>T||||||,T|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|11/11|c.1107+541C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=3114;p3_1000G_AF=0.621805;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=16125;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33139043;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,41:41:99:1|1:32673442_C_T:1819,124,0
chr1	32673443	rs11373803	T	TC	1781.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.12;SOR=1.206;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11373803;dbSNPBuildID=130;ANN=TC|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|11/11|c.1212+542_1212+543insC||||||,TC|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|11/11|c.1209+542_1209+543insC||||||,TC|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|11/11|c.1107+542_1107+543insC||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3697;p3_1000G_AF=0.738219;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=18681;p3_1000G_EAS_AF=0.7897;p3_1000G_EUR_AF=0.835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33139044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,41:41:99:1|1:32673442_C_T:1819,124,0
chr1	32673687	rs7520807	C	G	251.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7520807;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_005610.2|protein_coding|11/11|c.1212+786C>G||||||,G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135255.1|protein_coding|11/11|c.1209+786C>G||||||,G|intron_variant|MODIFIER|RBBP4|RBBP4|transcript|NM_001135256.1|protein_coding|11/11|c.1107+786C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4160;p3_1000G_AF=0.830671;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=13259;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.9692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33139288;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:280,21,0
chr1	32695277	rs360042	C	T	2892.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=1.46;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs360042;dbSNPBuildID=79;ANN=T|missense_variant|MODERATE|SYNC|SYNC|transcript|NM_030786.2|protein_coding|2/5|c.821G>A|p.Arg274Gln|921/3493|821/1449|274/482||,T|missense_variant|MODERATE|SYNC|SYNC|transcript|NM_001161708.1|protein_coding|2/4|c.821G>A|p.Arg274Gln|921/3413|821/1431|274/476||;p3_1000G_AA=C|||;p3_1000G_AC=4320;p3_1000G_AF=0.86262;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=19910;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.9652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33160878;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1119,265;ESP6500_AA_GTC=455,209,28;ESP6500_CDS_SIZES=NM_030786.2:1449,NM_001161708.1:1431;ESP6500_CG=2.0;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=21;ESP6500_EA_AC=3045,137;ESP6500_EA_GTC=1456,133,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030786.2:missense,NM_001161708.1:missense;ESP6500_GL=SYNC;ESP6500_GRCh38_POSITION=1:32695277;ESP6500_GS=43,43;ESP6500_GTC=1911,342,30;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_030786.2:c.821G>A,NM_001161708.1:c.821G>A;ESP6500_HGVS_PROTEIN_VAR=NM_030786.2:p.(R274Q),NM_001161708.1:p.(R274Q);ESP6500_MAF=4.3055,19.1474,8.8042;ESP6500_PH=possibly-damaging:0.811,possibly-damaging:0.811;ESP6500_TAC=4164,402	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2921,273,0
chr1	32695611	rs360041	T	C	3621.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=116;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=1.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs360041;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|SYNC|SYNC|transcript|NM_030786.2|protein_coding|2/5|c.487A>G|p.Met163Val|587/3493|487/1449|163/482||,C|missense_variant|MODERATE|SYNC|SYNC|transcript|NM_001161708.1|protein_coding|2/4|c.487A>G|p.Met163Val|587/3413|487/1431|163/476||;p3_1000G_AA=T|||;p3_1000G_AC=4320;p3_1000G_AF=0.86262;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=20107;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.9652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33161212;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1117,267;ESP6500_AA_GTC=454,209,29;ESP6500_CDS_SIZES=NM_030786.2:1449,NM_001161708.1:1431;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=79;ESP6500_EA_AC=3045,137;ESP6500_EA_GTC=1456,133,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030786.2:missense,NM_001161708.1:missense;ESP6500_GL=SYNC;ESP6500_GRCh38_POSITION=1:32695611;ESP6500_GS=21,21;ESP6500_GTC=1910,342,31;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_030786.2:c.487A>G,NM_001161708.1:c.487A>G;ESP6500_HGVS_PROTEIN_VAR=NM_030786.2:p.(M163V),NM_001161708.1:p.(M163V);ESP6500_MAF=4.3055,19.2919,8.848;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=4162,404	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3650,348,0
chr1	32767722	rs360523	A	G	431.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.99;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs360523;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_020888.2|protein_coding|1/6|c.236-65A>G||||||,G|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_001198972.1|protein_coding|1/6|c.59-65A>G||||||,G|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_001198973.1|protein_coding|1/4|c.59-65A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4921;p3_1000G_AF=0.982628;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=20514;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33233323;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:460,33,0
chr1	32768535	rs360522	T	C	918.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=4.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs360522;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_020888.2|protein_coding|3/6|c.463-117T>C||||||,C|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_001198972.1|protein_coding|3/6|c.286-117T>C||||||,C|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_001198973.1|protein_coding|3/4|c.286-117T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4900;p3_1000G_AF=0.978435;p3_1000G_AFR_AF=0.9221;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18514;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33234136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:947,72,0
chr1	32768552	rs3737993	G	A	920.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737993;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_020888.2|protein_coding|3/6|c.463-100G>A||||||,A|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_001198972.1|protein_coding|3/6|c.286-100G>A||||||,A|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_001198973.1|protein_coding|3/4|c.286-100G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2854;p3_1000G_AF=0.569888;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=18190;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.5775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33234153;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:949,87,0
chr1	32770025	rs3737995	G	A	941.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.38;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737995;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|KIAA1522|KIAA1522|transcript|NM_020888.2|protein_coding|6/7|c.846G>A|p.Ala282Ala|890/5412|846/3285|282/1094||,A|synonymous_variant|LOW|KIAA1522|KIAA1522|transcript|NM_001198972.1|protein_coding|6/7|c.669G>A|p.Ala223Ala|805/5327|669/3108|223/1035||,A|intron_variant|MODIFIER|KIAA1522|KIAA1522|transcript|NM_001198973.1|protein_coding|4/4|c.409+1250G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1542;p3_1000G_AF=0.307907;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=14338;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33235626;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=408,3616;ESP6500_AA_GTC=29,350,1633;ESP6500_CDS_SIZES=NM_020888.2:3285,NM_001198973.1:432,NM_001198972.1:3108;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=19;ESP6500_EA_AC=2943,5379;ESP6500_EA_GTC=531,1881,1749;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020888.2:coding-synonymous,NM_001198973.1:intron,NM_001198972.1:coding-synonymous;ESP6500_GL=KIAA1522;ESP6500_GRCh38_POSITION=1:32770025;ESP6500_GTC=560,2231,3382;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020888.2:c.846G>A,NM_001198973.1:c.409+1250G>A,NM_001198972.1:c.669G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020888.2:p.(A282),.,NM_001198972.1:p.(A223);ESP6500_MAF=35.3641,10.1392,27.1424;ESP6500_TAC=3351,8995	GT:AD:DP:GQ:PL	1/1:0,31:31:93:970,93,0
chr1	32810823	rs4951787	G	A	671.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4951787;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|YARS|YARS|transcript|NM_003680.3|protein_coding|2/12|c.205-57C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4928;p3_1000G_AF=0.984026;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20717;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33276424;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:65:700,65,0
chr1	32828147	rs10753266	T	C	364.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10753266;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NM_001256121.1|protein_coding|4/6|c.920+66T>C||||||,C|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NM_022753.3|protein_coding|4/6|c.920+66T>C||||||,C|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NR_135106.1|pseudogene|3/7|n.1036+66T>C||||||,C|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NR_135107.1|pseudogene|3/6|n.1039+66T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4928;p3_1000G_AF=0.984026;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17036;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33293748;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:393,36,0
chr1	32852960	rs702836	T	C	429.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs702836;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NM_001256121.1|protein_coding|5/6|c.1025-119T>C||||||,C|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NM_022753.3|protein_coding|5/6|c.1025-119T>C||||||,C|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NR_135106.1|pseudogene|6/7|n.1215-119T>C||||||,C|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NR_135107.1|pseudogene|5/6|n.1172-119T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4928;p3_1000G_AF=0.984026;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=21344;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33318561;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:458,36,0
chr1	32853033	rs785274	G	A	947.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs785274;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NM_001256121.1|protein_coding|5/6|c.1025-46G>A||||||,A|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NM_022753.3|protein_coding|5/6|c.1025-46G>A||||||,A|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NR_135106.1|pseudogene|6/7|n.1215-46G>A||||||,A|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NR_135107.1|pseudogene|5/6|n.1172-46G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4928;p3_1000G_AF=0.984026;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=21695;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33318634;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4224,182;ESP6500_AA_AGE=116.7+/-154.6;ESP6500_AA_GTC=2022,180,1;ESP6500_CDS_SIZES=NM_022753.3:1227,NM_001256121.1:1227;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=86;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=4293,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022753.3:intron,NM_001256121.1:intron;ESP6500_GL=S100PBP;ESP6500_GRCh38_POSITION=1:32853033;ESP6500_GTC=6315,187,1;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022753.3:c.1025-46G>A,NM_001256121.1:c.1025-46G>A;ESP6500_MAF=0.0814,4.1307,1.4532;ESP6500_TAC=12817,189	GT:AD:DP:GQ:PL	1/1:0,31:31:93:976,93,0
chr1	32853267	rs61236897	C	CATTTGAGGTCAGGA	448.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.94;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61236897;dbSNPBuildID=129;ANN=CATTTGAGGTCAGGA|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NM_001256121.1|protein_coding|6/6|c.1112+101_1112+102insATTTGAGGTCAGGA||||||,CATTTGAGGTCAGGA|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NM_022753.3|protein_coding|6/6|c.1112+101_1112+102insATTTGAGGTCAGGA||||||,CATTTGAGGTCAGGA|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NR_135106.1|pseudogene|7/7|n.1302+101_1302+102insATTTGAGGTCAGGA||||||,CATTTGAGGTCAGGA|intron_variant|MODIFIER|S100PBP|S100PBP|transcript|NR_135107.1|pseudogene|6/6|n.1259+101_1259+102insATTTGAGGTCAGGA||||||;p3_1000G_AC=4787;p3_1000G_AF=0.955871;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=13761;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33318868;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:33:486,33,0
chr1	32864831	rs1284368	A	G	597.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1284368;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|FNDC5|FNDC5|transcript|NM_153756.2|protein_coding|4/5|c.500-34T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|FNDC5|FNDC5|transcript|NM_001171940.1|protein_coding|4/5|c.500-34T>C||||||WARNING_TRANSCRIPT_NO_START_CODON,G|intron_variant|MODIFIER|FNDC5|FNDC5|transcript|NM_001171941.2|protein_coding|4/4|c.275-34T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4928;p3_1000G_AF=0.984026;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18240;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33330432;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4224,182;ESP6500_AA_AGE=116.3+/-154.2;ESP6500_AA_GTC=2022,180,1;ESP6500_CDS_SIZES=NM_153756.2:414,NM_001171941.1:462,NM_001171940.1:321;ESP6500_CG=0.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=59;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=4293,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153756.2:intron,NM_001171941.1:intron,NM_001171940.1:intron;ESP6500_GL=FNDC5;ESP6500_GRCh38_POSITION=1:32864831;ESP6500_GTC=6315,187,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153756.2:c.275-34T>C,NM_001171941.1:c.275-34T>C,NM_001171940.1:c.275-34T>C;ESP6500_MAF=0.0814,4.1307,1.4532;ESP6500_TAC=12817,189	GT:AD:DP:GQ:PL	1/1:0,17:17:51:626,51,0
chr1	32936733	rs200262373	GA	G	36.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.133;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.59;ReadPosRankSum=-1.368;SOR=1.981;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs200262373;dbSNPBuildID=137;ANN=G|3_prime_UTR_variant|MODIFIER|RNF19B|RNF19B|transcript|NM_153341.3|protein_coding|9/9|c.*72delT|||||72|,G|3_prime_UTR_variant|MODIFIER|RNF19B|RNF19B|transcript|NM_001127361.2|protein_coding|9/9|c.*554delT|||||554|,G|3_prime_UTR_variant|MODIFIER|RNF19B|RNF19B|transcript|NM_001300826.1|protein_coding|9/9|c.*72delT|||||72|;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2177;p3_1000G_AF=0.434704;p3_1000G_AFR_AF=0.4274;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=17520;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.4264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33402334;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,4:8:53:74,0,53
chr1	32943950	rs194644	C	T	129.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.495;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=0.956;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs194644;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|RNF19B|RNF19B|transcript|NM_153341.3|protein_coding|6/8|c.1405+69G>A||||||,T|intron_variant|MODIFIER|RNF19B|RNF19B|transcript|NM_001127361.2|protein_coding|6/8|c.1402+69G>A||||||,T|intron_variant|MODIFIER|RNF19B|RNF19B|transcript|NM_001300826.1|protein_coding|6/8|c.1402+69G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1853;p3_1000G_AF=0.370008;p3_1000G_AFR_AF=0.4304;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=20601;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.3449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33409551;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:158,0,267
chr1	32944092	rs194645	G	A	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.779;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=3.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.497;SOR=0.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs194645;dbSNPBuildID=79;ANN=A|synonymous_variant|LOW|RNF19B|RNF19B|transcript|NM_153341.3|protein_coding|6/9|c.1332C>T|p.Gly444Gly|1460/2687|1332/2199|444/732||,A|synonymous_variant|LOW|RNF19B|RNF19B|transcript|NM_001127361.2|protein_coding|6/9|c.1329C>T|p.Gly443Gly|1457/2734|1329/1764|443/587||,A|synonymous_variant|LOW|RNF19B|RNF19B|transcript|NM_001300826.1|protein_coding|6/9|c.1329C>T|p.Gly443Gly|1457/2684|1329/2196|443/731||;p3_1000G_AA=G|||;p3_1000G_AC=944;p3_1000G_AF=0.188498;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=20214;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33409693;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=292,4114;ESP6500_AA_AGE=158.9+/-191.5;ESP6500_AA_GTC=10,272,1921;ESP6500_CDS_SIZES=NM_153341.2:2199,NM_001127361.1:1764;ESP6500_CG=-2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=65;ESP6500_EA_AC=1908,6692;ESP6500_EA_AGE=337.6+/-322.4;ESP6500_EA_GTC=206,1496,2598;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153341.2:coding-synonymous,NM_001127361.1:coding-synonymous;ESP6500_GL=RNF19B;ESP6500_GRCh38_POSITION=1:32944092;ESP6500_GTC=216,1768,4519;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153341.2:c.1332C>T,NM_001127361.1:c.1329C>T;ESP6500_HGVS_PROTEIN_VAR=NM_153341.2:p.(G444),NM_001127361.1:p.(G443);ESP6500_MAF=22.186,6.6273,16.9153;ESP6500_TAC=2200,10806	GT:AD:DP:GQ:PL	0/1:8,13:21:99:294,0,235
chr1	33010691	rs74066439	A	G	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=54.97;MQRankSum=-2.369;QD=19.85;ReadPosRankSum=-0.135;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74066439;dbSNPBuildID=130;ANN=G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001199199.1|protein_coding|7/7|c.*138T>C|||||138|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319139.1|protein_coding|8/8|c.*138T>C|||||138|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319141.1|protein_coding|8/8|c.*187T>C|||||1427|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319142.1|protein_coding|6/6|c.*138T>C|||||138|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_013411.4|protein_coding|7/7|c.*138T>C|||||138|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001625.3|protein_coding||c.*2490T>C|||||534|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319140.1|protein_coding||c.*2490T>C|||||534|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319143.1|protein_coding||c.*3832T>C|||||2353|,G|non_coding_transcript_exon_variant|MODIFIER|AK2|AK2|transcript|NR_134976.1|pseudogene|6/6|n.825T>C||||||	GT:AD:DP:GQ:PL	0/1:3,5:8:65:187,0,65
chr1	33010752	rs66599471	C	T	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=56.7;MQRankSum=-3.224;QD=11.23;ReadPosRankSum=2.57;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs66599471;dbSNPBuildID=131;ANN=T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001199199.1|protein_coding|7/7|c.*77G>A|||||77|,T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319139.1|protein_coding|8/8|c.*77G>A|||||77|,T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319141.1|protein_coding|8/8|c.*126G>A|||||1366|,T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319142.1|protein_coding|6/6|c.*77G>A|||||77|,T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_013411.4|protein_coding|7/7|c.*77G>A|||||77|,T|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001625.3|protein_coding||c.*2429G>A|||||473|,T|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319140.1|protein_coding||c.*2429G>A|||||473|,T|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319143.1|protein_coding||c.*3771G>A|||||2292|,T|non_coding_transcript_exon_variant|MODIFIER|AK2|AK2|transcript|NR_134976.1|pseudogene|6/6|n.764G>A||||||	GT:AD:DP:GQ:PL	0/1:7,5:12:99:163,0,179
chr1	33010784	rs76881767	C	G	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=56.7;MQRankSum=-3.224;QD=13.4;ReadPosRankSum=0.079;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76881767;dbSNPBuildID=132;ANN=G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001199199.1|protein_coding|7/7|c.*45G>C|||||45|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319139.1|protein_coding|8/8|c.*45G>C|||||45|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319141.1|protein_coding|8/8|c.*94G>C|||||1334|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319142.1|protein_coding|6/6|c.*45G>C|||||45|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_013411.4|protein_coding|7/7|c.*45G>C|||||45|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001625.3|protein_coding||c.*2397G>C|||||441|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319140.1|protein_coding||c.*2397G>C|||||441|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319143.1|protein_coding||c.*3739G>C|||||2260|,G|non_coding_transcript_exon_variant|MODIFIER|AK2|AK2|transcript|NR_134976.1|pseudogene|6/6|n.732G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:33010784_C_G:189,0,343
chr1	33010786	rs201842558	C	T	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.038;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=56.7;MQRankSum=-3.224;QD=13.4;ReadPosRankSum=-0.032;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201842558;dbSNPBuildID=137;ANN=T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001199199.1|protein_coding|7/7|c.*43G>A|||||43|,T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319139.1|protein_coding|8/8|c.*43G>A|||||43|,T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319141.1|protein_coding|8/8|c.*92G>A|||||1332|,T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319142.1|protein_coding|6/6|c.*43G>A|||||43|,T|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_013411.4|protein_coding|7/7|c.*43G>A|||||43|,T|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001625.3|protein_coding||c.*2395G>A|||||439|,T|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319140.1|protein_coding||c.*2395G>A|||||439|,T|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319143.1|protein_coding||c.*3737G>A|||||2258|,T|non_coding_transcript_exon_variant|MODIFIER|AK2|AK2|transcript|NR_134976.1|pseudogene|6/6|n.730G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:33010784_C_G:189,0,343
chr1	33010795	rs79824855	G	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.188;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=56.7;MQRankSum=-3.224;QD=13.4;ReadPosRankSum=-0.825;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79824855;dbSNPBuildID=134;ANN=A|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001199199.1|protein_coding|7/7|c.*34C>T|||||34|,A|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319139.1|protein_coding|8/8|c.*34C>T|||||34|,A|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319141.1|protein_coding|8/8|c.*83C>T|||||1323|,A|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319142.1|protein_coding|6/6|c.*34C>T|||||34|,A|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_013411.4|protein_coding|7/7|c.*34C>T|||||34|,A|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001625.3|protein_coding||c.*2386C>T|||||430|,A|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319140.1|protein_coding||c.*2386C>T|||||430|,A|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319143.1|protein_coding||c.*3728C>T|||||2249|,A|non_coding_transcript_exon_variant|MODIFIER|AK2|AK2|transcript|NR_134976.1|pseudogene|6/6|n.721C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:33010784_C_G:189,0,343
chr1	33010803	rs76230073	T	G	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=56.7;MQRankSum=-3.224;QD=13.4;ReadPosRankSum=-0.825;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76230073;dbSNPBuildID=131;ANN=G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001199199.1|protein_coding|7/7|c.*26A>C|||||26|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319139.1|protein_coding|8/8|c.*26A>C|||||26|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319141.1|protein_coding|8/8|c.*75A>C|||||1315|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_001319142.1|protein_coding|6/6|c.*26A>C|||||26|,G|3_prime_UTR_variant|MODIFIER|AK2|AK2|transcript|NM_013411.4|protein_coding|7/7|c.*26A>C|||||26|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001625.3|protein_coding||c.*2378A>C|||||422|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319140.1|protein_coding||c.*2378A>C|||||422|,G|downstream_gene_variant|MODIFIER|AK2|AK2|transcript|NM_001319143.1|protein_coding||c.*3720A>C|||||2241|,G|non_coding_transcript_exon_variant|MODIFIER|AK2|AK2|transcript|NR_134976.1|pseudogene|6/6|n.713A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:33010784_C_G:189,0,343
chr1	33020188	rs771954618	A	AAC	435.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.311;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.93;ReadPosRankSum=0.84;SOR=0.569;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=AAC|sequence_feature|LOW|AK2|AK2|binding-site:ATP|NM_001625.3|protein_coding|4/5|c.425+1177_425+1178dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001625.3|protein_coding|4/5|c.425+1177_425+1178dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001199199.1|protein_coding|4/6|c.401+1201_401+1202dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319139.1|protein_coding|5/7|c.281+1177_281+1178dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319141.1|protein_coding|4/7|c.425+1177_425+1178dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319142.1|protein_coding|3/5|c.299+1177_299+1178dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_013411.4|protein_coding|4/6|c.425+1177_425+1178dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NR_134976.1|pseudogene|3/5|n.413+1403_413+1404dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319140.1|protein_coding|5/6|c.281+1177_281+1178dupGT||||||,AAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319143.1|protein_coding|3/4|c.330+1403_330+1404dupGT||||||	GT:AD:DP:GQ:PL	1/0:3,8:11:99:473,142,158
chr1	33020188	rs771954618;rs879090522	A	AACAC	435.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.311;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.93;ReadPosRankSum=0.84;SOR=0.569;INS;HET;VARTYPE=INS;dbSNPBuildID=144,147;ANN=AACAC|sequence_feature|LOW|AK2|AK2|binding-site:ATP|NM_001625.3|protein_coding|4/5|c.425+1175_425+1178dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001625.3|protein_coding|4/5|c.425+1175_425+1178dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001199199.1|protein_coding|4/6|c.401+1199_401+1202dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319139.1|protein_coding|5/7|c.281+1175_281+1178dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319141.1|protein_coding|4/7|c.425+1175_425+1178dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319142.1|protein_coding|3/5|c.299+1175_299+1178dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_013411.4|protein_coding|4/6|c.425+1175_425+1178dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NR_134976.1|pseudogene|3/5|n.413+1401_413+1404dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319140.1|protein_coding|5/6|c.281+1175_281+1178dupGTGT||||||,AACAC|intron_variant|MODIFIER|AK2|AK2|transcript|NM_001319143.1|protein_coding|3/4|c.330+1401_330+1404dupGTGT||||||	GT:AD:DP:GQ:PL	0/1:3,8:11:99:473,123,222
chr1	33082156	rs370305556	T	C	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.6;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.774;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=1.48;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370305556;dbSNPBuildID=138;ANN=C|upstream_gene_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001301825.1|protein_coding||c.-94T>C|||||22|,C|upstream_gene_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001301826.1|protein_coding||c.-94T>C|||||22|,C|upstream_gene_variant|MODIFIER|AZIN2|AZIN2|transcript|NR_126031.1|pseudogene||n.-22T>C|||||22|,C|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001293562.1|protein_coding|2/10|c.-72-22T>C||||||,C|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_052998.3|protein_coding|3/11|c.-72-22T>C||||||,C|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001301823.1|protein_coding|1/8|c.-181+648T>C||||||,C|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001301824.1|protein_coding|1/7|c.-7+648T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13842;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33547757;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,3:13:82:82,0,265
chr1	33094737	rs804428	A	G	764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs804428;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001301825.1|protein_coding|5/8|c.753+24A>G||||||,G|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001293562.1|protein_coding|7/10|c.753+24A>G||||||,G|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_052998.3|protein_coding|8/11|c.753+24A>G||||||,G|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001301823.1|protein_coding|5/8|c.468+24A>G||||||,G|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001301824.1|protein_coding|4/7|c.468+24A>G||||||,G|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NM_001301826.1|protein_coding|5/7|c.753+24A>G||||||,G|intron_variant|MODIFIER|AZIN2|AZIN2|transcript|NR_126031.1|pseudogene|5/7|n.862+24A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4951;p3_1000G_AF=0.988618;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=19559;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33560338;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4366,40;ESP6500_AA_AGE=43.1+/-76.7;ESP6500_AA_GTC=2163,40,0;ESP6500_CDS_SIZES=NM_052998.2:1383;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=47;ESP6500_EA_AC=8125,475;ESP6500_EA_AGE=139.0+/-195.8;ESP6500_EA_GTC=3837,451,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052998.2:intron;ESP6500_GL=ADC;ESP6500_GRCh38_POSITION=1:33094737;ESP6500_GTC=6000,491,12;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052998.2:c.753+24A>G;ESP6500_MAF=5.5233,0.9079,3.9597;ESP6500_TAC=12491,515	GT:AD:DP:GQ:PL	1/1:0,25:25:75:793,75,0
chr1	33096815	rs16835244	G	T	681.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.924;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=8.968;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-1.034;SOR=1.826;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16835244;dbSNPBuildID=123;ANN=T|missense_variant|MODERATE|AZIN2|AZIN2|transcript|NM_001301825.1|protein_coding|6/9|c.862G>T|p.Ala288Ser|934/1864|862/1443|288/480||,T|missense_variant|MODERATE|AZIN2|AZIN2|transcript|NM_001293562.1|protein_coding|8/11|c.862G>T|p.Ala288Ser|1234/2104|862/1383|288/460||,T|missense_variant|MODERATE|AZIN2|AZIN2|transcript|NM_052998.3|protein_coding|9/12|c.862G>T|p.Ala288Ser|1449/2319|862/1383|288/460||,T|missense_variant|MODERATE|AZIN2|AZIN2|transcript|NM_001301823.1|protein_coding|6/9|c.577G>T|p.Ala193Ser|1137/2007|577/1098|193/365||,T|missense_variant|MODERATE|AZIN2|AZIN2|transcript|NM_001301824.1|protein_coding|5/8|c.577G>T|p.Ala193Ser|963/1833|577/1098|193/365||,T|missense_variant|MODERATE|AZIN2|AZIN2|transcript|NM_001301826.1|protein_coding|6/8|c.862G>T|p.Ala288Ser|934/1161|862/1089|288/362||,T|non_coding_transcript_exon_variant|MODIFIER|AZIN2|AZIN2|transcript|NR_126031.1|pseudogene|6/8|n.971G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=193;p3_1000G_AF=0.0385383;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=18813;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33562416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,6,2197;ESP6500_CDS_SIZES=NM_052998.2:1383;ESP6500_CG=5.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=131;ESP6500_EA_AC=8,8592;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=0,8,4292;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052998.2:missense;ESP6500_GL=ADC;ESP6500_GRCh38_POSITION=1:33096815;ESP6500_GS=99;ESP6500_GTC=0,14,6489;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_052998.2:c.862G>T;ESP6500_HGVS_PROTEIN_VAR=NM_052998.2:p.(A288S);ESP6500_MAF=0.093,0.1362,0.1076;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=14,12992	GT:AD:DP:GQ:PL	0/1:41,27:68:99:710,0,1150
chr1	33165468	rs2306257	C	A	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.104;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.562;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306257;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|TRIM62|TRIM62|transcript|NM_018207.2|protein_coding|2/4|c.504+3G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=940;p3_1000G_AF=0.1877;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=12561;p3_1000G_EAS_AF=0.2014;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33631069;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=415,3989;ESP6500_AA_GTC=24,367,1811;ESP6500_CDS_SIZES=NM_018207.2:1428;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=27;ESP6500_EA_AC=2026,6574;ESP6500_EA_GTC=268,1490,2542;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018207.2:intron;ESP6500_GL=TRIM62;ESP6500_GRCh38_POSITION=1:33165468;ESP6500_GTC=292,1857,4353;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018207.2:c.504+3G>T;ESP6500_MAF=23.5581,9.4233,18.7711;ESP6500_TAC=2441,10563	GT:AD:DP:GQ:PL	0/1:13,10:23:99:214,0,398
chr1	33176331	rs604941	A	G	1132.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs604941;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|TRIM62|TRIM62|transcript|NM_018207.2|protein_coding|1/4|c.408+4694T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4927;p3_1000G_AF=0.983826;p3_1000G_AFR_AF=0.9448;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=18351;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33641932;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1161,117,0
chr1	33176551	rs643402	C	T	55.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.968;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.29;ReadPosRankSum=-0.563;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs643402;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|TRIM62|TRIM62|transcript|NM_018207.2|protein_coding|1/4|c.408+4474G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3752;p3_1000G_AF=0.749201;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=18819;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.7545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33642152;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7198;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:84:84,0,272
chr1	33181349	rs622407	A	G	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.466;SOR=0.377;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs622407;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|TRIM62|TRIM62|transcript|NM_018207.2|protein_coding|1/5|c.84T>C|p.His28His|722/3841|84/1428|28/475||;p3_1000G_AA=a|||;p3_1000G_AC=3754;p3_1000G_AF=0.749601;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=10266;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.7545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33646950;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7198;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3063,931;ESP6500_AA_GTC=1199,665,133;ESP6500_CDS_SIZES=NM_018207.2:1428;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=6;ESP6500_EA_AC=6346,1716;ESP6500_EA_GTC=2530,1286,215;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018207.2:coding-synonymous;ESP6500_GL=TRIM62;ESP6500_GRCh38_POSITION=1:33181349;ESP6500_GTC=3729,1951,348;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018207.2:c.84T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018207.2:p.(H28);ESP6500_MAF=21.285,23.31,21.9559;ESP6500_TAC=9409,2647	GT:AD:DP:GQ:PL	0/1:15,14:29:99:395,0,368
chr1	33276186	rs12743549	G	A	675.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.41;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.145;SOR=0.685;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12743549;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ZNF362|ZNF362|transcript|NM_152493.2|protein_coding|3/8|c.102+23G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=835;p3_1000G_AF=0.166733;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=14464;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33741787;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=206,4200;ESP6500_AA_AGE=125.7+/-162.9;ESP6500_AA_GTC=5,196,2002;ESP6500_CDS_SIZES=NM_152493.2:1263;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=52;ESP6500_EA_AC=1989,6611;ESP6500_EA_AGE=347.3+/-326.5;ESP6500_EA_GTC=223,1543,2534;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152493.2:intron;ESP6500_GL=ZNF362;ESP6500_GRCh38_POSITION=1:33276186;ESP6500_GTC=228,1739,4536;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152493.2:c.102+23G>A;ESP6500_MAF=23.1279,4.6754,16.8768;ESP6500_TAC=2195,10811	GT:AD:DP:GQ:PL	0/1:28,28:56:99:704,0,658
chr1	33276294	rs12743740	G	A	554.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.277;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=15.413;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=-0.537;SOR=0.017;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12743740;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ZNF362|ZNF362|transcript|NM_152493.2|protein_coding|3/8|c.103-54G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=834;p3_1000G_AF=0.166534;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.1686;p3_1000G_AN=5008;p3_1000G_DP=11522;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33741895;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,22:30:99:583,0,251
chr1	33276627	rs4475712	T	C	245.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.72;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4475712;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ZNF362|ZNF362|transcript|NM_152493.2|protein_coding|4/8|c.349+33T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4969;p3_1000G_AF=0.992212;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=6421;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33742228;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:274,24,0
chr1	33280562	rs10914676	T	C	160.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10914676;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ZNF362|ZNF362|transcript|NM_152493.2|protein_coding|5/8|c.683+105T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4969;p3_1000G_AF=0.992212;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=12848;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33746163;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:189,15,0
chr1	33295142	rs4641276	T	C	893.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.974;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=1.04;SOR=0.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4641276;dbSNPBuildID=111;ANN=C|splice_region_variant&intron_variant|LOW|ZNF362|ZNF362|transcript|NM_152493.2|protein_coding|7/8|c.988-5T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4093;p3_1000G_AF=0.817292;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=13643;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.7584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33760743;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4127,279;ESP6500_AA_AGE=149.5+/-183.7;ESP6500_AA_GTC=1933,261,9;ESP6500_CDS_SIZES=NM_152493.2:1263;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=92;ESP6500_EA_AC=6497,2103;ESP6500_EA_AGE=350.3+/-327.8;ESP6500_EA_GTC=2460,1577,263;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152493.2:intron;ESP6500_GL=ZNF362;ESP6500_GRCh38_POSITION=1:33295142;ESP6500_GTC=4393,1838,272;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152493.2:c.988-5T>C;ESP6500_MAF=24.4535,6.3323,18.3146;ESP6500_TAC=10624,2382	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,34:57:99:0|1:33295140_C_A:922,0,585
chr1	33311923	rs6679416	T	C	609.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6679416;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|A3GALT2|A3GALT2|transcript|NM_001080438.1|protein_coding|4/4|c.335+129A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3631;p3_1000G_AF=0.72504;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=19811;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33777524;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:638,48,0
chr1	33312624	rs75640182	C	G	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.959;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.17;ReadPosRankSum=-1.531;SOR=0.344;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75640182;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|A3GALT2|A3GALT2|transcript|NM_001080438.1|protein_coding|2/4|c.108-34G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=84;p3_1000G_AF=0.0167732;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16338;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33778225;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,3955;ESP6500_AA_GTC=0,3,1976;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_133;ESP6500_DP=34;ESP6500_EA_AC=0,8328;ESP6500_EA_GTC=0,0,4164;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:33312624;ESP6500_GTC=0,3,6140;ESP6500_GTS=GG,GC,CC;ESP6500_MAF=0.0,0.0758,0.0244;ESP6500_TAC=3,12283	GT:AD:DP:GQ:PL	0/1:16,6:22:99:142,0,481
chr1	33312990	rs6664593	T	C	95.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6664593;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|A3GALT2|A3GALT2|transcript|NM_001080438.1|protein_coding|1/4|c.24-100A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3615;p3_1000G_AF=0.721845;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=18938;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33778591;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:123,12,0
chr1	33324895	rs11554674	G	A	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.847;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.492;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=0.241;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11554674;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|PHC2|PHC2|transcript|NM_198040.2|protein_coding|14/14|c.2547C>T|p.Tyr849Tyr|2601/3873|2547/2577|849/858||,A|synonymous_variant|LOW|PHC2|PHC2|transcript|NM_004427.3|protein_coding|7/7|c.942C>T|p.Tyr314Tyr|1294/2566|942/972|314/323||,A|upstream_gene_variant|MODIFIER|A3GALT2|A3GALT2|transcript|NM_001080438.1|protein_coding||c.-3797C>T|||||3797|;p3_1000G_AA=G|||;p3_1000G_AC=866;p3_1000G_AF=0.172923;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=17074;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.2416;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33790496;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=227,4179;ESP6500_AA_AGE=134.9+/-171.1;ESP6500_AA_GTC=5,217,1981;ESP6500_CDS_SIZES=NM_198040.2:2577,NM_004427.3:972;ESP6500_CG=-5.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=71;ESP6500_EA_AC=2126,6474;ESP6500_EA_AGE=364.7+/-333.6;ESP6500_EA_GTC=253,1620,2427;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198040.2:coding-synonymous,NM_004427.3:coding-synonymous;ESP6500_GL=PHC2;ESP6500_GRCh38_POSITION=1:33324895;ESP6500_GTC=258,1837,4408;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198040.2:c.2547C>T,NM_004427.3:c.942C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198040.2:p.(Y849),NM_004427.3:p.(Y314);ESP6500_MAF=24.7209,5.1521,18.0917;ESP6500_TAC=2353,10653	GT:AD:DP:GQ:PL	0/1:17,10:27:99:250,0,496
chr1	33328815	rs72658237	T	C	516.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.56;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.521;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72658237;dbSNPBuildID=130;ANN=C|downstream_gene_variant|MODIFIER|MIR3605|MIR3605|transcript|NR_037400.1|pseudogene||n.*3578A>G|||||3578|,C|intron_variant|MODIFIER|PHC2|PHC2|transcript|NM_198040.2|protein_coding|13/13|c.2422+55A>G||||||,C|intron_variant|MODIFIER|PHC2|PHC2|transcript|NM_004427.3|protein_coding|6/6|c.817+55A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=555;p3_1000G_AF=0.110823;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=19580;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33794416;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,17:28:99:545,0,288
chr1	33331290	rs41265891	C	A	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.299;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=0.176;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41265891;dbSNPBuildID=127;ANN=A|downstream_gene_variant|MODIFIER|MIR3605|MIR3605|transcript|NR_037400.1|pseudogene||n.*1103G>T|||||1103|,A|intron_variant|MODIFIER|PHC2|PHC2|transcript|NM_198040.2|protein_coding|11/13|c.2003+58G>T||||||,A|intron_variant|MODIFIER|PHC2|PHC2|transcript|NM_004427.3|protein_coding|4/6|c.398+58G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=555;p3_1000G_AF=0.110823;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=18692;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33796891;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:155,0,343
chr1	33334299	rs12734630	G	A	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.719;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.334;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12734630;dbSNPBuildID=121;ANN=A|splice_region_variant&intron_variant|LOW|PHC2|PHC2|transcript|NM_198040.2|protein_coding|8/13|c.1556-7C>T||||||,A|splice_region_variant&intron_variant|LOW|PHC2|PHC2|transcript|NM_004427.3|protein_coding|1/6|c.-50-7C>T||||||,A|upstream_gene_variant|MODIFIER|MIR3605|MIR3605|transcript|NR_037400.1|pseudogene||n.-1807C>T|||||1807|;p3_1000G_AA=G|||;p3_1000G_AC=857;p3_1000G_AF=0.171126;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=18074;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33799900;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=224,4182;ESP6500_AA_AGE=133.7+/-170.0;ESP6500_AA_GTC=5,214,1984;ESP6500_CDS_SIZES=NM_198040.2:2577,NM_004427.3:972;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=61;ESP6500_EA_AC=2079,6521;ESP6500_EA_AGE=358.9+/-331.3;ESP6500_EA_GTC=243,1593,2464;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198040.2:intron,NM_004427.3:intron;ESP6500_GL=PHC2;ESP6500_GRCh38_POSITION=1:33334299;ESP6500_GTC=248,1807,4448;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198040.2:c.1556-7C>T,NM_004427.3:c.-57C>T;ESP6500_MAF=24.1744,5.084,17.7072;ESP6500_TAC=2303,10703	GT:AD:DP:GQ:PL	0/1:9,6:15:99:180,0,337
chr1	33354432	rs16835408	C	T	504.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.648;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.678;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16835408;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|PHC2|PHC2|transcript|NM_198040.2|protein_coding|8/14|c.1524G>A|p.Thr508Thr|1578/3873|1524/2577|508/858||,T|upstream_gene_variant|MODIFIER|PHC2|PHC2|transcript|NM_004427.3|protein_coding||c.-20190G>A|||||4534|,T|intron_variant|MODIFIER|LOC101929464|LOC101929464|transcript|NR_125978.1|pseudogene|1/2|n.96+3985C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=587;p3_1000G_AF=0.117212;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=19208;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33820033;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=122,4284;ESP6500_AA_AGE=92.0+/-130.7;ESP6500_AA_GTC=2,118,2083;ESP6500_CDS_SIZES=NM_198040.2:2577;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=95;ESP6500_EA_AC=1025,7575;ESP6500_EA_AGE=218.7+/-257.0;ESP6500_EA_GTC=61,903,3336;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198040.2:coding-synonymous;ESP6500_GL=PHC2;ESP6500_GRCh38_POSITION=1:33354432;ESP6500_GTC=63,1021,5419;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198040.2:c.1524G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198040.2:p.(T508);ESP6500_MAF=11.9186,2.769,8.819;ESP6500_TAC=1147,11859	GT:AD:DP:GQ:PL	0/1:19,21:40:99:533,0,552
chr1	33354533	rs12026290	C	T	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.691;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.653;SOR=0.384;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12026290;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|PHC2|PHC2|transcript|NM_198040.2|protein_coding|8/14|c.1423G>A|p.Val475Met|1477/3873|1423/2577|475/858||,T|upstream_gene_variant|MODIFIER|PHC2|PHC2|transcript|NM_004427.3|protein_coding||c.-20291G>A|||||4635|,T|intron_variant|MODIFIER|LOC101929464|LOC101929464|transcript|NR_125978.1|pseudogene|1/2|n.96+4086C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=859;p3_1000G_AF=0.171526;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=19765;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33820134;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=224,4182;ESP6500_AA_AGE=133.7+/-170.0;ESP6500_AA_GTC=5,214,1984;ESP6500_CDS_SIZES=NM_198040.2:2577;ESP6500_CG=3.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=60;ESP6500_EA_AC=2079,6521;ESP6500_EA_AGE=358.6+/-331.2;ESP6500_EA_GTC=243,1593,2464;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198040.2:missense;ESP6500_GL=PHC2;ESP6500_GRCh38_POSITION=1:33354533;ESP6500_GS=21;ESP6500_GTC=248,1807,4448;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198040.2:c.1423G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198040.2:p.(V475M);ESP6500_MAF=24.1744,5.084,17.7072;ESP6500_PH=benign:0.412;ESP6500_TAC=2303,10703	GT:AD:DP:GQ:PL	0/1:19,17:36:99:425,0,552
chr1	33367264	rs6425816	A	G	796.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6425816;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|PHC2|PHC2|transcript|NM_198040.2|protein_coding|6/14|c.828T>C|p.Pro276Pro|882/3873|828/2577|276/858||,G|downstream_gene_variant|MODIFIER|LOC101929464|LOC101929464|transcript|NR_125978.1|pseudogene||n.*4019A>G|||||4019|;p3_1000G_AA=G|||;p3_1000G_AC=3647;p3_1000G_AF=0.728235;p3_1000G_AFR_AF=0.8843;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=17950;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33832865;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3755,651;ESP6500_AA_AGE=274.6+/-272.0;ESP6500_AA_GTC=1605,545,53;ESP6500_CDS_SIZES=NM_198040.2:2577;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=60;ESP6500_EA_AC=5737,2863;ESP6500_EA_AGE=447.2+/-361.5;ESP6500_EA_GTC=1912,1913,475;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198040.2:coding-synonymous;ESP6500_GL=PHC2;ESP6500_GRCh38_POSITION=1:33367264;ESP6500_GTC=3517,2458,528;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198040.2:c.828T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198040.2:p.(P276);ESP6500_MAF=33.2907,14.7753,27.0183;ESP6500_TAC=9492,3514	GT:AD:DP:GQ:PL	1/1:0,25:25:75:825,75,0
chr1	33371195	rs7545416	C	G	1065.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.751;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7545416;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PHC2|PHC2|transcript|NM_198040.2|protein_coding|2/13|c.334-101G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3650;p3_1000G_AF=0.728834;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=14318;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33836796;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1094,99,0
chr1	33375257	rs34710284	G	A	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.674;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34710284;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|PHC2|PHC2|transcript|NM_198040.2|protein_coding|1/13|c.174+109C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=623;p3_1000G_AF=0.124401;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=19801;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33840858;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:97:97,0,104
chr1	33488752	rs3795418	A	G	479.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795418;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ZSCAN20|ZSCAN20|transcript|NM_145238.3|protein_coding|3/7|c.604+101A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3775;p3_1000G_AF=0.753794;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=23360;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.7366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33954352;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:508,42,0
chr1	33491552	rs4403594	T	G	1691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=0.732;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4403594;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|ZSCAN20|ZSCAN20|transcript|NM_145238.3|protein_coding|6/8|c.1294T>G|p.Tyr432Asp|1461/4218|1294/3132|432/1043||;p3_1000G_AA=G|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17693;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33957152;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3903,3;ESP6500_AA_GTC=1950,3,0;ESP6500_CDS_SIZES=NM_145238.3:3132;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=77;ESP6500_EA_AC=8263,25;ESP6500_EA_GTC=4119,25,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145238.3:missense;ESP6500_GL=ZSCAN20;ESP6500_GRCh38_POSITION=1:33491552;ESP6500_GS=160;ESP6500_GTC=6069,28,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_145238.3:c.1294T>G;ESP6500_HGVS_PROTEIN_VAR=NM_145238.3:p.(Y432D);ESP6500_MAF=0.3016,0.0768,0.2296;ESP6500_PH=benign:0.0;ESP6500_TAC=12166,28	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,51:51:99:1|1:33491549_G_A:1720,153,0
chr1	33494462	rs9943259	A	G	2230.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=0.722;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9943259;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|ZSCAN20|ZSCAN20|transcript|NM_145238.3|protein_coding|8/8|c.2118A>G|p.Ala706Ala|2285/4218|2118/3132|706/1043||;p3_1000G_AA=G|||;p3_1000G_AC=3769;p3_1000G_AF=0.752596;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=19525;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33960062;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3487,663;ESP6500_AA_GTC=1466,555,54;ESP6500_CDS_SIZES=NM_145238.3:3132;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=108;ESP6500_EA_AC=6701,1799;ESP6500_EA_GTC=2643,1415,192;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145238.3:coding-synonymous;ESP6500_GL=ZSCAN20;ESP6500_GRCh38_POSITION=1:33494462;ESP6500_GTC=4109,1970,246;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145238.3:c.2118A>G;ESP6500_HGVS_PROTEIN_VAR=NM_145238.3:p.(A706);ESP6500_MAF=21.1647,15.9759,19.4625;ESP6500_TAC=10188,2462	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2259,207,0
chr1	33519746	rs147373387	G	C	678.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.357;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.782;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147373387;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|69/70|c.10736+66C>G||||||,C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|68/69|c.10304+66C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16802;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33985346;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,27:55:99:0|1:33519746_G_C:707,0,1060
chr1	33519753	rs2641959	C	G	686.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.916;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.333;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2641959;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|69/70|c.10736+59G>C||||||,G|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|68/69|c.10304+59G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3223;p3_1000G_AF=0.64357;p3_1000G_AFR_AF=0.7103;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=16577;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.5666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33985353;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6247;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,26:53:99:1|0:33519746_G_C:715,0,1030
chr1	33533246	rs116604185	A	G	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.69;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=-1.853;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116604185;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|63/70|c.9992-17T>C||||||,G|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|62/69|c.9560-17T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=87;p3_1000G_AF=0.0173722;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=20002;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33998846;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=184,4222;ESP6500_AA_AGE=108.2+/-146.6;ESP6500_AA_GTC=3,178,2022;ESP6500_CDS_SIZES=NM_052896.3:10464;ESP6500_CG=2.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=21;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052896.3:intron;ESP6500_GL=CSMD2;ESP6500_GRCh38_POSITION=1:33533246;ESP6500_GTC=3,179,6321;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052896.3:c.9560-17T>C;ESP6500_MAF=0.0116,4.1761,1.4224;ESP6500_TAC=185,12821	GT:AD:DP:GQ:PL	0/1:21,8:29:99:243,0,568
chr1	33537768	rs2641954	G	A	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.16;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.578;SOR=1.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2641954;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|60/70|c.9632-159C>T||||||,A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|59/69|c.9200-159C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1621;p3_1000G_AF=0.323682;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=17672;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.3807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34003368;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,11:26:99:322,0,445
chr1	33577569	rs11291100;rs796731830	TC	T	1645.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=0.931;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11291100;dbSNPBuildID=131,146;ANN=T|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|48/70|c.7388-86delG||||||,T|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|49/69|c.7394-86delG||||||;p3_1000G_AA=CCCCCC|CCCCCCC|CCCCCC|insertion;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18312;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34043169;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1683,162,0
chr1	33587005	rs7526990	A	G	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.21;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7526990;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|45/70|c.6937+83T>C||||||,G|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|46/69|c.6943+83T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3492;p3_1000G_AF=0.697284;p3_1000G_AFR_AF=0.7239;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=16231;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.6302;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34052605;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:57:159,0,57
chr1	33587125	rs201247458	G	A	415.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.354;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.155;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201247458;dbSNPBuildID=137;ANN=A|synonymous_variant|LOW|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|45/71|c.6900C>T|p.Asn2300Asn|7077/13698|6900/10896|2300/3631||,A|synonymous_variant|LOW|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|46/70|c.6906C>T|p.Asn2302Asn|6935/13118|6906/10464|2302/3487||;p3_1000G_AA=G|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18933;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34052725;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,17:28:99:444,0,251
chr1	33605226	rs12733436	G	A	570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.42;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12733436;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|42/70|c.6532+56C>T||||||,A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|43/69|c.6538+56C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2722;p3_1000G_AF=0.54353;p3_1000G_AFR_AF=0.3911;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=20466;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.5775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34070826;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:599,48,0
chr1	33605834	rs1874044	C	T	1014.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.751;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1874044;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|41/70|c.6344-364G>A||||||,T|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|42/69|c.6349+29G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2643;p3_1000G_AF=0.527756;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=20230;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.5755;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34071434;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5828;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1816,2590;ESP6500_AA_AGE=515.2+/-368.8;ESP6500_AA_GTC=375,1066,762;ESP6500_CDS_SIZES=NM_052896.3:10464;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=32;ESP6500_EA_AC=4954,3646;ESP6500_EA_AGE=605.0+/-394.9;ESP6500_EA_GTC=1437,2080,783;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052896.3:intron;ESP6500_GL=CSMD2;ESP6500_GRCh38_POSITION=1:33605834;ESP6500_GTC=1812,3146,1545;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052896.3:c.6349+29G>A;ESP6500_MAF=42.3953,41.2165,47.9471;ESP6500_TAC=6770,6236	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1043,99,0
chr1	33605925	rs1874045	C	T	2054.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.131;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1874045;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|42/70|c.6287G>A|p.Arg2096Lys|6316/13118|6287/10464|2096/3487||,T|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|41/70|c.6344-455G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2596;p3_1000G_AF=0.518371;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=21656;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.5755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34071525;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1744,2662;ESP6500_AA_AGE=520.1+/-370.2;ESP6500_AA_GTC=344,1056,803;ESP6500_CDS_SIZES=NM_052896.3:10464;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=65;ESP6500_EA_AC=4953,3647;ESP6500_EA_AGE=623.0+/-397.4;ESP6500_EA_GTC=1436,2081,783;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052896.3:missense;ESP6500_GL=CSMD2;ESP6500_GRCh38_POSITION=1:33605925;ESP6500_GS=26;ESP6500_GTC=1780,3137,1586;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052896.3:c.6287G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052896.3:p.(R2096K);ESP6500_MAF=42.407,39.5824,48.5084;ESP6500_PH=benign:0.005;ESP6500_TAC=6697,6309	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2083,207,0
chr1	33724267	rs35450508	C	T	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.318;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=1.11;SOR=0.763;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35450508;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|19/71|c.2931G>A|p.Ser977Ser|3108/13698|2931/10896|977/3631||,T|synonymous_variant|LOW|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|19/70|c.2811G>A|p.Ser937Ser|2840/13118|2811/10464|937/3487||;p3_1000G_AA=C|||;p3_1000G_AC=220;p3_1000G_AF=0.0439297;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=18393;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34189867;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=38,4368;ESP6500_AA_AGE=42.3+/-75.8;ESP6500_AA_GTC=0,38,2165;ESP6500_CDS_SIZES=NM_052896.3:10464;ESP6500_CG=-5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=96;ESP6500_EA_AC=194,8406;ESP6500_EA_AGE=85.3+/-147.7;ESP6500_EA_GTC=2,190,4108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052896.3:coding-synonymous;ESP6500_GL=CSMD2;ESP6500_GRCh38_POSITION=1:33724267;ESP6500_GTC=2,228,6273;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052896.3:c.2811G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052896.3:p.(S937);ESP6500_MAF=2.2558,0.8625,1.7838;ESP6500_TAC=232,12774	GT:AD:DP:GQ:PL	0/1:30,17:47:99:360,0,755
chr1	33724317	rs519370	C	T	1199.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs519370;dbSNPBuildID=83;ANN=T|splice_region_variant&intron_variant|LOW|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|18/70|c.2885-4G>A||||||,T|splice_region_variant&intron_variant|LOW|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|18/69|c.2765-4G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3955;p3_1000G_AF=0.789736;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=17401;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.6372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34189917;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7577;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3290,1116;ESP6500_AA_AGE=399.5+/-331.2;ESP6500_AA_GTC=1219,852,132;ESP6500_CDS_SIZES=NM_052896.3:10464;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=54;ESP6500_EA_AC=5587,3013;ESP6500_EA_AGE=463.3+/-365.9;ESP6500_EA_GTC=1828,1931,541;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052896.3:intron;ESP6500_GL=CSMD2;ESP6500_GRCh38_POSITION=1:33724317;ESP6500_GTC=3047,2783,673;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052896.3:c.2765-4G>A;ESP6500_MAF=35.0349,25.3291,31.7469;ESP6500_TAC=8877,4129	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1228,123,0
chr1	33804897	rs10737374	G	A	2252.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10737374;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|10/70|c.1446+5846C>T||||||,A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|10/69|c.1326+5846C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4432;p3_1000G_AF=0.884984;p3_1000G_AFR_AF=0.9599;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=20504;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34270498;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2281,236,0
chr1	33810609	rs11418676;rs397764347;rs528742597	T	TA	44.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.601;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=-0.411;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11418676;dbSNPBuildID=137,142,138;ANN=TA|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|10/70|c.1446+133dupT||||||,TA|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|10/69|c.1326+133dupT||||||	GT:AD:DP:GQ:PL	0/1:6,4:10:82:82,0,139
chr1	33819741	rs17342512	G	A	695.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.741;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=17.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.46;ReadPosRankSum=-1.557;SOR=0.772;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17342512;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|9/71|c.1296C>T|p.Ala432Ala|1473/13698|1296/10896|432/3631||,A|synonymous_variant|LOW|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|9/70|c.1176C>T|p.Ala392Ala|1205/13118|1176/10464|392/3487||;p3_1000G_AA=G|||;p3_1000G_AC=3013;p3_1000G_AF=0.601637;p3_1000G_AFR_AF=0.584;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=19906;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.5278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34285342;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6084;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2507,1899;ESP6500_AA_AGE=626.6+/-394.7;ESP6500_AA_GTC=723,1061,419;ESP6500_CDS_SIZES=NM_052896.3:10464;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=65;ESP6500_EA_AC=4444,4156;ESP6500_EA_AGE=585.1+/-391.8;ESP6500_EA_GTC=1134,2176,990;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052896.3:coding-synonymous;ESP6500_GL=CSMD2;ESP6500_GRCh38_POSITION=1:33819741;ESP6500_GTC=1857,3237,1409;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052896.3:c.1176C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052896.3:p.(A392);ESP6500_MAF=48.3256,43.1003,46.5554;ESP6500_TAC=6951,6055	GT:AD:DP:GQ:PL	0/1:9,25:34:99:724,0,255
chr1	33819780	rs11578857	C	T	861.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.24;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=3.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.02;ReadPosRankSum=-1.343;SOR=0.249;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11578857;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|9/71|c.1257G>A|p.Lys419Lys|1434/13698|1257/10896|419/3631||,T|synonymous_variant|LOW|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|9/70|c.1137G>A|p.Lys379Lys|1166/13118|1137/10464|379/3487||;p3_1000G_AA=C|||;p3_1000G_AC=3012;p3_1000G_AF=0.601438;p3_1000G_AFR_AF=0.584;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=20363;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.5278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34285381;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2509,1897;ESP6500_AA_AGE=628.5+/-395.1;ESP6500_AA_GTC=726,1057,420;ESP6500_CDS_SIZES=NM_052896.3:10464;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=89;ESP6500_EA_AC=4446,4154;ESP6500_EA_AGE=587.6+/-392.2;ESP6500_EA_GTC=1135,2176,989;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052896.3:coding-synonymous;ESP6500_GL=CSMD2;ESP6500_GRCh38_POSITION=1:33819780;ESP6500_GTC=1861,3233,1409;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052896.3:c.1137G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052896.3:p.(K379);ESP6500_MAF=48.3023,43.0549,46.5247;ESP6500_TAC=6955,6051	GT:AD:DP:GQ:PL	0/1:10,31:41:99:890,0,268
chr1	33820394	rs3795414	G	A	515.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.266;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.202;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.027;SOR=0.434;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795414;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|8/70|c.1199+75C>T||||||,A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|8/69|c.1079+75C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2417;p3_1000G_AF=0.482628;p3_1000G_AFR_AF=0.2005;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=17931;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.5219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34285995;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,21:47:99:544,0,800
chr1	33820588	rs3843294	A	C	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=0;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3843294;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|7/70|c.1112-32T>G||||||,C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|7/69|c.992-32T>G||||||;ESP6500_AA=A;ESP6500_AA_AC=930,3474;ESP6500_AA_GTC=360,210,1632;ESP6500_CDS_SIZES=NM_052896.3:10464;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=35;ESP6500_EA_AC=682,7912;ESP6500_EA_GTC=288,106,3903;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052896.3:intron;ESP6500_GL=CSMD2;ESP6500_GRCh38_POSITION=1:33820588;ESP6500_GTC=648,316,5535;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_052896.3:c.992-32T>G;ESP6500_MAF=7.9358,21.1172,12.4019;ESP6500_TAC=1612,11386	GT:AD:DP:GQ:PL	0/1:2,3:5:73:73,0,85
chr1	33846757	rs746666	T	A	526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.06;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.94;ReadPosRankSum=2.2;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs746666;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|6/70|c.1033+127A>T||||||,A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|6/69|c.913+127A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=331;p3_1000G_AF=0.0660942;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=19421;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34312358;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,15:22:99:555,0,168
chr1	33864296	rs911218	T	C	1588.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=0.773;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs911218;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|HMGB4|HMGB4|transcript|NM_145205.5|protein_coding|2/2|c.105T>C|p.Tyr35Tyr|1848/2343|105/561|35/186||,C|upstream_gene_variant|MODIFIER|CSMD2-AS1|CSMD2-AS1|transcript|NR_038372.1|pseudogene||n.-4660T>C|||||4660|,C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|5/70|c.921-17300A>G||||||,C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|5/69|c.801-17300A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|HMGB4|HMGB4|transcript|NR_033264.1|pseudogene|2/2|n.133T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4949;p3_1000G_AF=0.988219;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=22529;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34329897;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4366,40;ESP6500_AA_AGE=42.3+/-75.8;ESP6500_AA_GTC=2163,40,0;ESP6500_CDS_SIZES=NM_145205.4:561,NM_052896.3:10464;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=94;ESP6500_EA_AC=8209,391;ESP6500_EA_AGE=125.8+/-184.4;ESP6500_EA_GTC=3921,367,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145205.4:coding-synonymous,NM_052896.3:intron;ESP6500_GL=CSMD2,HMGB4;ESP6500_GRCh38_POSITION=1:33864296;ESP6500_GTC=6084,407,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145205.4:c.105T>C,NM_052896.3:c.801-17300A>G;ESP6500_HGVS_PROTEIN_VAR=NM_145205.4:p.(Y35),.;ESP6500_MAF=4.5465,0.9079,3.3139;ESP6500_TAC=12575,431	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1617,149,0
chr1	33864466	rs10379	A	C	1648.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.11;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10379;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|HMGB4|HMGB4|transcript|NM_145205.5|protein_coding|2/2|c.275A>C|p.Glu92Ala|2018/2343|275/561|92/186||,C|upstream_gene_variant|MODIFIER|CSMD2-AS1|CSMD2-AS1|transcript|NR_038372.1|pseudogene||n.-4490A>C|||||4490|,C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|5/70|c.921-17470T>G||||||,C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|5/69|c.801-17470T>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|HMGB4|HMGB4|transcript|NR_033264.1|pseudogene|2/2|n.303A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4513;p3_1000G_AF=0.901158;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=19662;p3_1000G_EAS_AF=0.9008;p3_1000G_EUR_AF=0.7475;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34330067;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9335;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4171,235;ESP6500_AA_AGE=132.9+/-169.3;ESP6500_AA_GTC=1973,225,5;ESP6500_CDS_SIZES=NM_145205.4:561,NM_052896.3:10464;ESP6500_CG=5.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=134;ESP6500_EA_AC=6535,2065;ESP6500_EA_AGE=340.9+/-323.8;ESP6500_EA_GTC=2464,1607,229;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145205.4:missense,NM_052896.3:intron;ESP6500_GL=CSMD2,HMGB4;ESP6500_GRCh38_POSITION=1:33864466;ESP6500_GS=107,.;ESP6500_GTC=4437,1832,234;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_145205.4:c.275A>C,NM_052896.3:c.801-17470T>G;ESP6500_HGVS_PROTEIN_VAR=NM_145205.4:p.(E92A),.;ESP6500_MAF=24.0116,5.3336,17.6841;ESP6500_PH=benign:0.0,.;ESP6500_TAC=10706,2300	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1677,138,0
chr1	33864936	rs56842328	G	GGGA	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.95;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs56842328;dbSNPBuildID=129;ANN=GGGA|upstream_gene_variant|MODIFIER|CSMD2-AS1|CSMD2-AS1|transcript|NR_038372.1|pseudogene||n.-4020_-4019insGGA|||||4019|,GGGA|downstream_gene_variant|MODIFIER|HMGB4|HMGB4|transcript|NM_145205.5|protein_coding||c.*184_*185insGGA|||||146|,GGGA|downstream_gene_variant|MODIFIER|HMGB4|HMGB4|transcript|NR_033264.1|pseudogene||n.*145_*146insGGA|||||146|,GGGA|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|5/70|c.921-17941_921-17940insTCC||||||,GGGA|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|5/69|c.801-17941_801-17940insTCC||||||;p3_1000G_AC=3093;p3_1000G_AF=0.617612;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=12484;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.5915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34330537;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:33864936_G_GGGA:225,15,0
chr1	33864944	rs60609003	G	A	107.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.27;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60609003;dbSNPBuildID=129;ANN=A|upstream_gene_variant|MODIFIER|CSMD2-AS1|CSMD2-AS1|transcript|NR_038372.1|pseudogene||n.-4012G>A|||||4012|,A|downstream_gene_variant|MODIFIER|HMGB4|HMGB4|transcript|NM_145205.5|protein_coding||c.*192G>A|||||153|,A|downstream_gene_variant|MODIFIER|HMGB4|HMGB4|transcript|NR_033264.1|pseudogene||n.*153G>A|||||153|,A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding|5/70|c.921-17948C>T||||||,A|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|5/69|c.801-17948C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:33864936_G_GGGA:135,9,0
chr1	34165582	rs373165115	CCA	C	300.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.092;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=-1.133;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs373165115;dbSNPBuildID=138;ANN=C|upstream_gene_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_001281956.1|protein_coding||c.-487_-486delTG|||||309|,C|upstream_gene_variant|MODIFIER|C1orf94|C1orf94|transcript|NM_032884.4|protein_coding||c.-31892_-31891delCA|||||1300|,C|intron_variant|MODIFIER|CSMD2|CSMD2|transcript|NM_052896.4|protein_coding|1/69|c.67+163_67+164delTG||||||	GT:AD:DP:GQ:PL	0/1:4,10:14:99:338,0,107
chr1	34177849	rs41266411	G	A	1113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.208;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=1.51;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41266411;dbSNPBuildID=127;ANN=A|synonymous_variant|LOW|C1orf94|C1orf94|transcript|NM_001134734.1|protein_coding|1/7|c.60G>A|p.Glu20Glu|898/3004|60/1797|20/598||,A|intron_variant|MODIFIER|C1orf94|C1orf94|transcript|NM_032884.4|protein_coding|1/6|c.-251+10678G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=129;p3_1000G_AF=0.0257588;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=15300;p3_1000G_EAS_AF=0.0575;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34643450;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=20,1364;ESP6500_AA_GTC=1,18,673;ESP6500_CDS_SIZES=NM_032884.3:1227,NM_001134734.1:1797;ESP6500_CG=-2.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=20;ESP6500_EA_AC=111,3071;ESP6500_EA_GTC=0,111,1480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032884.3:intron,NM_001134734.1:coding-synonymous;ESP6500_GL=C1orf94;ESP6500_GRCh38_POSITION=1:34177849;ESP6500_GTC=1,129,2153;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032884.3:c.-19626G>A,NM_001134734.1:c.60G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001134734.1:p.(E20);ESP6500_MAF=3.4884,1.4451,2.869;ESP6500_TAC=131,4435	GT:AD:DP:GQ:PL	0/1:34,36:70:99:1142,0,1088
chr1	34178236	rs750572	A	G	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.34;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.15;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs750572;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|C1orf94|C1orf94|transcript|NM_001134734.1|protein_coding|1/6|c.320+127A>G||||||,G|intron_variant|MODIFIER|C1orf94|C1orf94|transcript|NM_032884.4|protein_coding|1/6|c.-251+11065A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=823;p3_1000G_AF=0.164337;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=18186;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34643837;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,10:24:99:334,0,373
chr1	34218862	rs705207	G	A	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.591;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.791;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs705207;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|C1orf94|C1orf94|transcript|NM_001134734.1|protein_coding|7/7|c.*101G>A|||||101|,A|3_prime_UTR_variant|MODIFIER|C1orf94|C1orf94|transcript|NM_032884.4|protein_coding|7/7|c.*101G>A|||||101|;p3_1000G_AA=G|||;p3_1000G_AC=3864;p3_1000G_AF=0.771565;p3_1000G_AFR_AF=0.7481;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=16002;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.7525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=34684463;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:215,0,170
chr1	34718237	rs683589	A	C	268.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs683589;dbSNPBuildID=83;ANN=C|intergenic_region|MODIFIER|MIR552-GJB5|MIR552-GJB5|intergenic_region|MIR552-GJB5|||n.34718237A>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=3923;p3_1000G_AF=0.783347;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=21606;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.6958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35183838;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:24:297,24,0
chr1	34718283	rs59601962	A	C	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.1;ReadPosRankSum=-0.444;SOR=0.211;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59601962;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|MIR552-GJB5|MIR552-GJB5|intergenic_region|MIR552-GJB5|||n.34718283A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=165;p3_1000G_AF=0.0329473;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=21490;p3_1000G_EAS_AF=0.0873;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35183884;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,5:18:99:120,0,343
chr1	34718432	rs693582	C	T	915.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.54;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs693582;dbSNPBuildID=83;ANN=T|intergenic_region|MODIFIER|MIR552-GJB5|MIR552-GJB5|intergenic_region|MIR552-GJB5|||n.34718432C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3917;p3_1000G_AF=0.782149;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=18424;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35184033;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:944,93,0
chr1	34718483	rs693852	C	T	472.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs693852;dbSNPBuildID=83;ANN=T|intergenic_region|MODIFIER|MIR552-GJB5|MIR552-GJB5|intergenic_region|MIR552-GJB5|||n.34718483C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3919;p3_1000G_AF=0.782548;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=20373;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.6909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35184084;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:501,45,0
chr1	34761761	rs79193415;252789	C	G	1258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.934;ClippingRankSum=0;DP=113;ExcessHet=3.0103;FS=10.917;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.832;SOR=0.479;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79193415;dbSNPBuildID=132;ANN=G|missense_variant|MODERATE|GJB4|GJB4|transcript|NM_153212.2|protein_coding|2/2|c.507C>G|p.Cys169Trp|877/2840|507/801|169/266||,G|downstream_gene_variant|MODIFIER|GJB5|GJB5|transcript|NM_005268.3|protein_coding||c.*3609C>G|||||3249|;p3_1000G_AA=C|||;p3_1000G_AC=157;p3_1000G_AF=0.0313498;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=20733;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.0308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35227362;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=52,4354;ESP6500_AA_AGE=50.9+/-86.3;ESP6500_AA_GTC=0,52,2151;ESP6500_CDS_SIZES=NM_153212.2:801;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=54;ESP6500_EA_AC=314,8286;ESP6500_EA_AGE=109.2+/-169.8;ESP6500_EA_GTC=4,306,3990;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153212.2:missense;ESP6500_GL=GJB4;ESP6500_GRCh38_POSITION=1:34761761;ESP6500_GS=215;ESP6500_GTC=4,358,6141;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153212.2:c.507C>G;ESP6500_HGVS_PROTEIN_VAR=NM_153212.2:p.(C169W);ESP6500_MAF=3.6512,1.1802,2.8141;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=366,12640;CLINVAR_AF_ESP=0.0281;CLINVAR_AF_EXAC=0.03492;CLINVAR_AF_TGP=0.0314;CLINVAR_ALLELEID=246884;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.34761761C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q9NTQ9#VAR_015091;CLINVAR_GENEINFO=GJB4:127534;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=79193415	GT:AD:DP:GQ:PL	0/1:67,45:112:99:1287,0,2153
chr1	34762072	rs755931;195420	A	G	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.741;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-0.645;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs755931;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|GJB4|GJB4|transcript|NM_153212.2|protein_coding|2/2|c.*17A>G|||||17|,G|downstream_gene_variant|MODIFIER|GJB5|GJB5|transcript|NM_005268.3|protein_coding||c.*3920A>G|||||3560|;p3_1000G_AA=A|||;p3_1000G_AC=711;p3_1000G_AF=0.141973;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=17075;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35227673;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0573;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1039,3359;ESP6500_AA_GTC=121,797,1281;ESP6500_CDS_SIZES=NM_153212.2:801;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=15;ESP6500_EA_AC=339,8225;ESP6500_EA_GTC=12,315,3955;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153212.2:utr-3;ESP6500_GL=GJB4;ESP6500_GRCh38_POSITION=1:34762072;ESP6500_GTC=133,1112,5236;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153212.2:c.*17A>G;ESP6500_MAF=3.9584,23.6244,10.6311;ESP6500_TAC=1378,11584;CLINVAR_AF_ESP=0.1063;CLINVAR_AF_EXAC=0.09615;CLINVAR_AF_TGP=0.1420;CLINVAR_ALLELEID=192581;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.34762072A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GJB4:127534;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=755931	GT:AD:DP:GQ:PL	0/1:6,10:16:99:301,0,181
chr1	34855641	rs14103	A	C	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.22;ReadPosRankSum=-1.555;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs14103;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|SMIM12|SMIM12|transcript|NM_001164824.1|protein_coding|3/3|c.*58T>G|||||58|,C|3_prime_UTR_variant|MODIFIER|SMIM12|SMIM12|transcript|NM_001164825.1|protein_coding|2/2|c.*58T>G|||||58|,C|3_prime_UTR_variant|MODIFIER|SMIM12|SMIM12|transcript|NM_001320261.1|protein_coding|2/2|c.*58T>G|||||58|,C|3_prime_UTR_variant|MODIFIER|SMIM12|SMIM12|transcript|NM_138428.5|protein_coding|2/2|c.*58T>G|||||58|;p3_1000G_AA=A|||;p3_1000G_AC=494;p3_1000G_AF=0.0986422;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=20444;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35321242;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=364,4042;ESP6500_AA_AGE=169.4+/-200.1;ESP6500_AA_GTC=21,322,1860;ESP6500_CDS_SIZES=NM_138428.5:279,NM_001164825.1:279,NM_001164824.1:279;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=81;ESP6500_EA_AC=664,7934;ESP6500_EA_AGE=162.5+/-215.2;ESP6500_EA_GTC=33,598,3668;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138428.5:utr-3,NM_001164825.1:utr-3,NM_001164824.1:utr-3;ESP6500_GL=C1orf212;ESP6500_GRCh38_POSITION=1:34855641;ESP6500_GTC=54,920,5528;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_138428.5:c.*58T>G,NM_001164825.1:c.*58T>G,NM_001164824.1:c.*58T>G;ESP6500_MAF=7.7227,8.2615,7.9053;ESP6500_TAC=1028,11976	GT:AD:DP:GQ:PL	0/1:6,11:17:99:338,0,199
chr1	34867525	rs12727066	T	C	1654.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.762;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=2.243;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.383;SOR=0.909;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12727066;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|DLGAP3|DLGAP3|transcript|NM_001080418.2|protein_coding|10/11|c.2577+11A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=805;p3_1000G_AF=0.160743;p3_1000G_AFR_AF=0.3185;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=22372;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.0686;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35333126;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1228,3178;ESP6500_AA_AGE=706.5+/-407.4;ESP6500_AA_GTC=179,870,1154;ESP6500_CDS_SIZES=NM_001080418.1:2940;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=201;ESP6500_EA_AC=665,7935;ESP6500_EA_AGE=789.2+/-407.6;ESP6500_EA_GTC=31,603,3666;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080418.1:intron;ESP6500_GL=DLGAP3;ESP6500_GRCh38_POSITION=1:34867525;ESP6500_GTC=210,1473,4820;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080418.1:c.2577+11A>G;ESP6500_MAF=7.7326,27.8711,14.5548;ESP6500_TAC=1893,11113	GT:AD:DP:GQ:PL	0/1:59,68:127:99:1683,0,1372
chr1	35093946	rs376833730	A	G	18.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=-1.915;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376833730;dbSNPBuildID=138;ANN=G|5_prime_UTR_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289088.1|protein_coding|3/11|c.-42A>G|||||42|,G|5_prime_UTR_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289089.1|protein_coding|2/10|c.-42A>G|||||42|,G|5_prime_UTR_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289090.1|protein_coding|3/11|c.-42A>G|||||42|,G|5_prime_UTR_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289091.1|protein_coding|3/11|c.-1118A>G|||||17945|,G|5_prime_UTR_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_024772.4|protein_coding|2/10|c.-42A>G|||||42|,G|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001319955.1|protein_coding|1/8|c.-129-1873A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17459;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35559547;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:47:47,0,162
chr1	35095909	rs2101973	G	A	162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-2.344;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2101973;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289088.1|protein_coding|4/10|c.169+18G>A||||||,A|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289089.1|protein_coding|3/9|c.169+18G>A||||||,A|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289090.1|protein_coding|4/10|c.169+18G>A||||||,A|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289091.1|protein_coding|4/10|c.-908+18G>A||||||,A|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001319955.1|protein_coding|2/8|c.-57+18G>A||||||,A|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_024772.4|protein_coding|3/9|c.169+18G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2792;p3_1000G_AF=0.557508;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=17196;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.8936;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35561510;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1287,2333;ESP6500_AA_GTC=241,805,764;ESP6500_CDS_SIZES=NM_024772.3:3429;ESP6500_CG=0.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=93;ESP6500_EA_AC=7237,917;ESP6500_EA_GTC=3221,795,61;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024772.3:intron;ESP6500_GL=ZMYM1;ESP6500_GRCh38_POSITION=1:35095909;ESP6500_GTC=3462,1600,825;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024772.3:c.169+18G>A;ESP6500_MAF=11.246,35.5525,27.6032;ESP6500_TAC=8524,3250	GT:AD:DP:GQ:PL	0/1:14,8:22:99:191,0,302
chr1	35097364	rs2971408	G	A	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.473;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.412;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=2.16;SOR=1.531;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2971408;dbSNPBuildID=101;ANN=A|missense_variant|MODERATE|ZMYM1|ZMYM1|transcript|NM_001289088.1|protein_coding|5/11|c.217G>A|p.Val73Met|657/4468|217/3429|73/1142||,A|missense_variant|MODERATE|ZMYM1|ZMYM1|transcript|NM_001289089.1|protein_coding|4/10|c.217G>A|p.Val73Met|371/4125|217/3372|73/1123||,A|missense_variant|MODERATE|ZMYM1|ZMYM1|transcript|NM_001289090.1|protein_coding|5/11|c.217G>A|p.Val73Met|419/4230|217/3429|73/1142||,A|missense_variant|MODERATE|ZMYM1|ZMYM1|transcript|NM_024772.4|protein_coding|4/10|c.217G>A|p.Val73Met|371/4182|217/3429|73/1142||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|ZMYM1|ZMYM1|transcript|NM_001289091.1|protein_coding|5/11|c.-860G>A||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|ZMYM1|ZMYM1|transcript|NM_001319955.1|protein_coding|3/9|c.-9G>A||||||,A|5_prime_UTR_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289091.1|protein_coding|5/11|c.-860G>A|||||14527|,A|5_prime_UTR_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001319955.1|protein_coding|3/9|c.-9G>A|||||9|;p3_1000G_AA=A|||;p3_1000G_AC=4152;p3_1000G_AF=0.829073;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=17942;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.9215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35562965;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3489,705;ESP6500_AA_GTC=1449,591,57;ESP6500_CDS_SIZES=NM_024772.3:3429;ESP6500_CG=-0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=113;ESP6500_EA_AC=7890,634;ESP6500_EA_GTC=3657,576,29;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024772.3:missense;ESP6500_GL=ZMYM1;ESP6500_GRCh38_POSITION=1:35097364;ESP6500_GS=21;ESP6500_GTC=5106,1167,86;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024772.3:c.217G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024772.3:p.(V73M);ESP6500_MAF=7.4378,16.8097,10.5284;ESP6500_PH=benign:0.001;ESP6500_TAC=11379,1339	GT:AD:DP:GQ:PL	0/1:20,13:33:99:339,0,514
chr1	35097605	rs6658571	C	G	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=1.48;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6658571;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289088.1|protein_coding|5/10|c.419+39C>G||||||,G|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289089.1|protein_coding|4/9|c.419+39C>G||||||,G|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289090.1|protein_coding|5/10|c.419+39C>G||||||,G|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289091.1|protein_coding|5/10|c.-658+39C>G||||||,G|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001319955.1|protein_coding|3/8|c.194+39C>G||||||,G|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_024772.4|protein_coding|4/9|c.419+39C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2955;p3_1000G_AF=0.590056;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=20163;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.8946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35563206;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1681,2025;ESP6500_AA_GTC=396,889,568;ESP6500_CDS_SIZES=NM_024772.3:3429;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=7285,909;ESP6500_EA_GTC=3244,797,56;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024772.3:intron;ESP6500_GL=ZMYM1;ESP6500_GRCh38_POSITION=1:35097605;ESP6500_GTC=3640,1686,624;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024772.3:c.419+39C>G;ESP6500_MAF=11.0935,45.3589,24.6555;ESP6500_TAC=8966,2934	GT:AD:DP:GQ:PL	0/1:8,9:17:99:262,0,185
chr1	35110221	rs145555277	T	C	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145555277;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289088.1|protein_coding|7/10|c.808-73T>C||||||,C|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289089.1|protein_coding|6/9|c.808-73T>C||||||,C|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289090.1|protein_coding|7/10|c.808-73T>C||||||,C|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001289091.1|protein_coding|7/10|c.-269-73T>C||||||,C|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_001319955.1|protein_coding|5/8|c.583-73T>C||||||,C|intron_variant|MODIFIER|ZMYM1|ZMYM1|transcript|NM_024772.4|protein_coding|6/9|c.808-73T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14797;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35575822;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:68:68,0,105
chr1	35187169	rs3738697	C	G	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.79;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738697;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|8/9|c.1864+34G>C||||||,G|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|8/11|n.1960+34G>C||||||,G|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|8/11|n.1972+34G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=309;p3_1000G_AF=0.0617013;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=18530;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35652770;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=126,4280;ESP6500_AA_AGE=93.9+/-132.6;ESP6500_AA_GTC=1,124,2078;ESP6500_CDS_SIZES=NM_005066.2:2124;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=108;ESP6500_EA_AC=41,8559;ESP6500_EA_AGE=28.5+/-78.6;ESP6500_EA_GTC=0,41,4259;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005066.2:intron;ESP6500_GL=SFPQ;ESP6500_GRCh38_POSITION=1:35187169;ESP6500_GTC=1,165,6337;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005066.2:c.1864+34G>C;ESP6500_MAF=0.4767,2.8597,1.284;ESP6500_TAC=167,12839	GT:AD:DP:GQ:PL	0/1:12,13:25:99:357,0,258
chr1	35188182	rs4652873	G	C	418.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-1.07;SOR=0.566;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4652873;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|6/9|c.1698-92C>G||||||,C|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|6/11|n.1794-92C>G||||||,C|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|6/11|n.1806-92C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1973;p3_1000G_AF=0.39397;p3_1000G_AFR_AF=0.6188;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=21876;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35653783;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,15:28:99:447,0,354
chr1	35188950	rs2101971	T	C	979.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=0.762;SOR=0.638;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2101971;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|6/9|c.1697+53A>G||||||,C|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|6/11|n.1793+53A>G||||||,C|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|6/11|n.1805+53A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1994;p3_1000G_AF=0.398163;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=19679;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35654551;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=768,616;ESP6500_AA_GTC=220,328,144;ESP6500_CDS_SIZES=NM_005066.2:2124;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=229;ESP6500_EA_AC=90,3092;ESP6500_EA_GTC=2,86,1503;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005066.2:intron;ESP6500_GL=SFPQ;ESP6500_GRCh38_POSITION=1:35188950;ESP6500_GTC=222,414,1647;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005066.2:c.1697+53A>G;ESP6500_MAF=2.8284,44.5087,18.7911;ESP6500_TAC=858,3708	GT:AD:DP:GQ:PL	0/1:25,35:60:99:1008,0,629
chr1	35189164	rs2088481	G	A	2204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.134;ClippingRankSum=0;DP=122;ExcessHet=3.0103;FS=4.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=-1.619;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2088481;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|5/9|c.1612+22C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|5/11|n.1708+22C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|5/11|n.1720+10C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1973;p3_1000G_AF=0.39397;p3_1000G_AFR_AF=0.6188;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=21032;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.0427;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35654765;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2373,2033;ESP6500_AA_AGE=610.6+/-391.6;ESP6500_AA_GTC=652,1069,482;ESP6500_CDS_SIZES=NM_005066.2:2124;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=169;ESP6500_EA_AC=214,8386;ESP6500_EA_AGE=90.6+/-152.8;ESP6500_EA_GTC=4,206,4090;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005066.2:intron;ESP6500_GL=SFPQ;ESP6500_GRCh38_POSITION=1:35189164;ESP6500_GTC=656,1275,4572;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005066.2:c.1612+22C>T;ESP6500_MAF=2.4884,46.1416,19.8908;ESP6500_TAC=2587,10419	GT:AD:DP:GQ:PGT:PID:PL	0/1:63,59:122:99:0|1:35189164_G_A:2233,0,3977
chr1	35189176	rs2088482	G	A	2152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.726;ClippingRankSum=0;DP=129;ExcessHet=3.0103;FS=2.241;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.33;SOR=0.826;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2088482;dbSNPBuildID=96;ANN=A|splice_region_variant&non_coding_transcript_exon_variant|LOW|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|5/12|n.1718C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|5/9|c.1612+10C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|5/11|n.1708+10C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1994;p3_1000G_AF=0.398163;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=21219;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.0427;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35654777;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2417,1989;ESP6500_AA_AGE=558.2+/-379.9;ESP6500_AA_GTC=676,1065,462;ESP6500_CDS_SIZES=NM_005066.2:2124;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=170;ESP6500_EA_AC=214,8386;ESP6500_EA_AGE=809.5+/-407.2;ESP6500_EA_GTC=4,206,4090;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005066.2:intron;ESP6500_GL=SFPQ;ESP6500_GRCh38_POSITION=1:35189176;ESP6500_GTC=680,1271,4552;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005066.2:c.1612+10C>T;ESP6500_MAF=2.4884,45.143,20.2291;ESP6500_TAC=2631,10375	GT:AD:DP:GQ:PGT:PID:PL	0/1:70,59:129:99:0|1:35189164_G_A:2181,0,4228
chr1	35189413	rs2101972	G	A	629.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.933;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.829;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.601;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2101972;dbSNPBuildID=96;ANN=A|sequence_feature|MODERATE|SFPQ|SFPQ|modified-residue:N6-acetyllysine|NM_005066.2|protein_coding|4/9|c.1416-31C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|4/9|c.1416-31C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|4/11|n.1512-31C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|4/11|n.1512-31C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=236;p3_1000G_AF=0.0471246;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=20099;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35655014;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=43,4363;ESP6500_AA_AGE=46.0+/-80.4;ESP6500_AA_GTC=0,43,2160;ESP6500_CDS_SIZES=NM_005066.2:2124;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=28;ESP6500_EA_AC=27,8573;ESP6500_EA_AGE=19.8+/-62.0;ESP6500_EA_GTC=0,27,4273;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005066.2:intron;ESP6500_GL=SFPQ;ESP6500_GRCh38_POSITION=1:35189413;ESP6500_GTC=0,70,6433;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005066.2:c.1416-31C>T;ESP6500_MAF=0.314,0.9759,0.5382;ESP6500_TAC=70,12936	GT:AD:DP:GQ:PL	0/1:33,28:61:99:658,0,933
chr1	35190463	rs11264114	T	A	664.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.469;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.97;ReadPosRankSum=0.06;SOR=1.218;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264114;dbSNPBuildID=120;ANN=A|sequence_feature|MODERATE|SFPQ|SFPQ|modified-residue:N6-acetyllysine|NM_005066.2|protein_coding|4/9|c.1415+35A>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|4/9|c.1415+35A>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|4/11|n.1511+35A>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|4/11|n.1511+35A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2034;p3_1000G_AF=0.40615;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=19460;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35656064;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2489,1915;ESP6500_AA_GTC=737,1015,450;ESP6500_CDS_SIZES=NM_005066.2:2124;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=203,8391;ESP6500_EA_GTC=5,193,4099;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005066.2:intron;ESP6500_GL=SFPQ;ESP6500_GRCh38_POSITION=1:35190463;ESP6500_GTC=742,1208,4549;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_005066.2:c.1415+35A>T;ESP6500_MAF=2.3621,43.4832,20.7109;ESP6500_TAC=2692,10306	GT:AD:DP:GQ:PL	0/1:14,23:37:99:693,0,287
chr1	35191063	rs11264115	G	A	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.903;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=7.375;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.34;SOR=3.145;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264115;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|2/9|c.1018-68C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|2/11|n.1114-68C>T||||||,A|intron_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|2/11|n.1114-68C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1990;p3_1000G_AF=0.397364;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=19350;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35656664;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:327,0,242
chr1	35192273	rs118141562	G	C	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.628;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.71;ReadPosRankSum=-0.349;SOR=1.535;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs118141562;dbSNPBuildID=132;ANN=C|synonymous_variant|LOW|SFPQ|SFPQ|transcript|NM_005066.2|protein_coding|1/10|c.777C>G|p.Pro259Pro|870/3073|777/2124|259/707||,C|non_coding_transcript_exon_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136702.1|pseudogene|1/12|n.873C>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|SFPQ|SFPQ|transcript|NR_136703.1|pseudogene|1/12|n.873C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2012;p3_1000G_AF=0.401757;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=7583;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.0437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35657874;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:102,0,189
chr1	35393640	.	C	G	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.025;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.297;SOR=0.28;SNP;HET;VARTYPE=SNP;ANN=G|missense_variant|MODERATE|ZMYM4|ZMYM4|transcript|NM_005095.2|protein_coding|18/30|c.2812C>G|p.Pro938Ala|2892/6994|2812/4647|938/1548||	GT:AD:DP:GQ:PL	0/1:14,16:30:99:380,0,332
chr1	35398362	rs16837325	A	G	106.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.36;ReadPosRankSum=-0.524;SOR=3.229;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16837325;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|ZMYM4|ZMYM4|transcript|NM_005095.2|protein_coding|20/29|c.3200-51A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=404;p3_1000G_AF=0.0806709;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=18271;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35863963;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=217,4095;ESP6500_AA_GTC=4,209,1943;ESP6500_CDS_SIZES=NM_005095.2:4647;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=22;ESP6500_EA_AC=28,8480;ESP6500_EA_GTC=0,28,4226;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005095.2:intron;ESP6500_GL=ZMYM4;ESP6500_GRCh38_POSITION=1:35398362;ESP6500_GTC=4,237,6169;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005095.2:c.3200-51A>G;ESP6500_MAF=0.3291,5.0325,1.9111;ESP6500_TAC=245,12575	GT:AD:DP:GQ:PL	0/1:1,4:5:23:135,0,23
chr1	35435014	rs3814302	A	G	439.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.367;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.544;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.059;SOR=1.119;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3814302;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|KIAA0319L|KIAA0319L|transcript|NM_024874.4|protein_coding|21/21|c.3030T>C|p.Asp1010Asp|3288/4812|3030/3150|1010/1049||;p3_1000G_AA=G|||;p3_1000G_AC=2272;p3_1000G_AF=0.453674;p3_1000G_AFR_AF=0.7239;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=22270;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35900615;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2634,1772;ESP6500_AA_AGE=524.6+/-371.4;ESP6500_AA_GTC=807,1020,376;ESP6500_CDS_SIZES=NM_024874.4:3150;ESP6500_CG=-9.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=92;ESP6500_EA_AC=285,8315;ESP6500_EA_AGE=806.6+/-407.2;ESP6500_EA_GTC=7,271,4022;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024874.4:coding-synonymous;ESP6500_GL=KIAA0319L;ESP6500_GRCh38_POSITION=1:35435014;ESP6500_GTC=814,1291,4398;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024874.4:c.3030T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024874.4:p.(D1010);ESP6500_MAF=3.314,40.2179,22.4435;ESP6500_TAC=2919,10087	GT:AD:DP:GQ:PL	0/1:23,21:44:99:468,0,592
chr1	35435124	rs10157108	A	C	311.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.943;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.61;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10157108;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|KIAA0319L|KIAA0319L|transcript|NM_024874.4|protein_coding|20/20|c.2963-43T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=822;p3_1000G_AF=0.164137;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=20155;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35900725;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1229,3177;ESP6500_AA_AGE=698.5+/-406.4;ESP6500_AA_GTC=179,871,1153;ESP6500_CDS_SIZES=NM_024874.4:3150;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=36;ESP6500_EA_AC=68,8532;ESP6500_EA_AGE=814.9+/-407.0;ESP6500_EA_GTC=1,66,4233;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024874.4:intron;ESP6500_GL=KIAA0319L;ESP6500_GRCh38_POSITION=1:35435124;ESP6500_GTC=180,937,5386;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_024874.4:c.2963-43T>G;ESP6500_MAF=0.7907,27.8938,9.9723;ESP6500_TAC=1297,11709	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,12:24:99:0|1:35435124_A_C:340,0,352
chr1	35442850	rs2275247	T	C	1080.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.21;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.362;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.78;ReadPosRankSum=0.418;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275247;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KIAA0319L|KIAA0319L|transcript|NM_024874.4|protein_coding|18/20|c.2779+56A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2265;p3_1000G_AF=0.452276;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=23037;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35908451;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,34:52:99:1109,0,407
chr1	35454378	rs10796920	A	G	670.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.33;ReadPosRankSum=0.898;SOR=1.108;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10796920;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|KIAA0319L|KIAA0319L|transcript|NM_024874.4|protein_coding|11/21|c.1764T>C|p.Thr588Thr|2022/4812|1764/3150|588/1049||;p3_1000G_AA=A|||;p3_1000G_AC=386;p3_1000G_AF=0.0770767;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=22059;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35919979;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=147,4259;ESP6500_AA_AGE=103.4+/-141.9;ESP6500_AA_GTC=3,141,2059;ESP6500_CDS_SIZES=NM_024874.4:3150;ESP6500_CG=-0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=165;ESP6500_EA_AC=25,8575;ESP6500_EA_AGE=18.5+/-59.3;ESP6500_EA_GTC=0,25,4275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024874.4:coding-synonymous;ESP6500_GL=KIAA0319L;ESP6500_GRCh38_POSITION=1:35454378;ESP6500_GTC=3,166,6334;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024874.4:c.1764T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024874.4:p.(T588);ESP6500_MAF=0.2907,3.3364,1.3225;ESP6500_TAC=172,12834	GT:AD:DP:GQ:PL	0/1:7,26:33:89:699,0,89
chr1	35460260	rs2819002	C	A	854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2819002;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|KIAA0319L|KIAA0319L|transcript|NM_024874.4|protein_coding|9/20|c.1427+45G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4941;p3_1000G_AF=0.986621;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=18386;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9573;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35925861;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4359,47;ESP6500_AA_AGE=48.9+/-83.8;ESP6500_AA_GTC=2156,47,0;ESP6500_CDS_SIZES=NM_024874.4:3150;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=71;ESP6500_EA_AC=8164,436;ESP6500_EA_AGE=129.2+/-187.3;ESP6500_EA_GTC=3876,412,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024874.4:intron;ESP6500_GL=KIAA0319L;ESP6500_GRCh38_POSITION=1:35460260;ESP6500_GTC=6032,459,12;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_024874.4:c.1427+45G>T;ESP6500_MAF=5.0698,1.0667,3.7137;ESP6500_TAC=12523,483	GT:AD:DP:GQ:PL	1/1:0,27:27:81:883,81,0
chr1	35558058	rs112310803	CT	C	296.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.662;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-0.384;SOR=1.755;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs112310803;dbSNPBuildID=132;ANN=C|5_prime_UTR_variant|MODIFIER|NCDN|NCDN|transcript|NM_014284.2|protein_coding|1/7|c.-121delT|||||121|INFO_REALIGN_3_PRIME,C|upstream_gene_variant|MODIFIER|KIAA0319L|KIAA0319L|transcript|NM_024874.4|protein_coding||c.-3568delA|||||623|,C|intron_variant|MODIFIER|NCDN|NCDN|transcript|NM_001014839.1|protein_coding|1/7|c.-35-86delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NCDN|NCDN|transcript|NM_001014841.1|protein_coding|1/6|c.-19+187delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:21,16:37:99:334,0,435
chr1	35563742	rs12094935	C	T	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.169;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.39;SOR=0.733;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12094935;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|NCDN|NCDN|transcript|NM_001014839.1|protein_coding|6/7|c.1611-25C>T||||||,T|intron_variant|MODIFIER|NCDN|NCDN|transcript|NM_001014841.1|protein_coding|5/6|c.1560-25C>T||||||,T|intron_variant|MODIFIER|NCDN|NCDN|transcript|NM_014284.2|protein_coding|5/6|c.1611-25C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=841;p3_1000G_AF=0.167931;p3_1000G_AFR_AF=0.3464;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=18956;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36029343;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1274,3132;ESP6500_AA_AGE=434.3+/-343.9;ESP6500_AA_GTC=177,920,1106;ESP6500_CDS_SIZES=NM_014284.2:2190,NM_001014841.1:2139,NM_001014839.1:2190;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=112;ESP6500_EA_AC=70,8530;ESP6500_EA_AGE=43.1+/-100.9;ESP6500_EA_GTC=1,68,4231;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014284.2:intron,NM_001014841.1:intron,NM_001014839.1:intron;ESP6500_GL=NCDN;ESP6500_GRCh38_POSITION=1:35563742;ESP6500_GTC=178,988,5337;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014284.2:c.1611-25C>T,NM_001014841.1:c.1560-25C>T,NM_001014839.1:c.1611-25C>T;ESP6500_MAF=0.814,28.9151,10.3337;ESP6500_TAC=1344,11662	GT:AD:DP:GQ:PL	0/1:26,20:46:99:474,0,704
chr1	35573641	rs201740082	G	A	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.737;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.484;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.539;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201740082;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|TFAP2E|TFAP2E|transcript|NM_178548.3|protein_coding|1/6|c.27+37G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=45;p3_1000G_AF=0.00898562;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=11309;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36039242;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3,3421;ESP6500_AA_GTC=0,3,1709;ESP6500_CDS_SIZES=NM_178548.3:1329;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=10;ESP6500_EA_AC=1,6369;ESP6500_EA_GTC=0,1,3184;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178548.3:intron;ESP6500_GL=TFAP2E;ESP6500_GRCh38_POSITION=1:35573641;ESP6500_GTC=0,4,4893;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178548.3:c.27+37G>A;ESP6500_MAF=0.0157,0.0876,0.0408;ESP6500_TAC=4,9790	GT:AD:DP:GQ:PL	0/1:17,13:30:99:305,0,488
chr1	35738111	rs768842272;rs773833466	AAAATATATAT	A	42.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.35;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144,144;ANN=A|intron_variant|MODIFIER|CLSPN|CLSPN|transcript|NM_022111.3|protein_coding|21/24|c.3559-24_3559-15delATATATATTT||||||,A|intron_variant|MODIFIER|CLSPN|CLSPN|transcript|NM_001190481.1|protein_coding|20/23|c.3367-24_3367-15delATATATATTT||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr1	35739565	rs577483	A	G	458.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.664;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=5.972;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.192;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs577483;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CLSPN|CLSPN|transcript|NM_022111.3|protein_coding|18/24|c.3144-36T>C||||||,G|intron_variant|MODIFIER|CLSPN|CLSPN|transcript|NM_001190481.1|protein_coding|17/23|c.2952-36T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2606;p3_1000G_AF=0.520367;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=20719;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.8638;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36205166;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1536,2870;ESP6500_AA_AGE=480.8+/-358.9;ESP6500_AA_GTC=278,980,945;ESP6500_CDS_SIZES=NM_022111.3:4020,NM_001190481.1:3828;ESP6500_CG=3.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=86;ESP6500_EA_AC=7451,1149;ESP6500_EA_AGE=764.1+/-407.6;ESP6500_EA_GTC=3241,969,90;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022111.3:intron,NM_001190481.1:intron;ESP6500_GL=CLSPN;ESP6500_GRCh38_POSITION=1:35739565;ESP6500_GTC=3519,1949,1035;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022111.3:c.3144-36T>C,NM_001190481.1:c.2952-36T>C;ESP6500_MAF=13.3605,34.8616,30.9011;ESP6500_TAC=8987,4019	GT:AD:DP:GQ:PL	0/1:26,19:45:99:487,0,735
chr1	35748111	rs516992	G	T	499.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs516992;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|CLSPN|CLSPN|transcript|NM_022111.3|protein_coding|13/24|c.2473-50C>A||||||,T|intron_variant|MODIFIER|CLSPN|CLSPN|transcript|NM_001190481.1|protein_coding|12/23|c.2281-50C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4886;p3_1000G_AF=0.975639;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20890;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36213712;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4144,260;ESP6500_AA_AGE=135.3+/-171.4;ESP6500_AA_GTC=1949,246,7;ESP6500_CDS_SIZES=NM_022111.3:4020,NM_001190481.1:3828;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=44;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022111.3:intron,NM_001190481.1:intron;ESP6500_GL=CLSPN;ESP6500_GRCh38_POSITION=1:35748111;ESP6500_GTC=6248,247,7;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_022111.3:c.2473-50C>A,NM_001190481.1:c.2281-50C>A;ESP6500_MAF=0.0116,5.9037,2.0071;ESP6500_TAC=12743,261	GT:AD:DP:GQ:PL	1/1:0,16:16:47:528,47,0
chr1	35751234	rs535638	C	T	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.372;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=4.206;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.37;ReadPosRankSum=1.19;SOR=0.296;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs535638;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|CLSPN|CLSPN|transcript|NM_022111.3|protein_coding|10/24|c.2028+16G>A||||||,T|intron_variant|MODIFIER|CLSPN|CLSPN|transcript|NM_001190481.1|protein_coding|9/23|c.1836+16G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2606;p3_1000G_AF=0.520367;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=19670;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.8638;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36216835;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1530,2874;ESP6500_AA_AGE=483.0+/-359.6;ESP6500_AA_GTC=277,976,949;ESP6500_CDS_SIZES=NM_022111.3:4020,NM_001190481.1:3828;ESP6500_CG=-0.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=66;ESP6500_EA_AC=7450,1150;ESP6500_EA_AGE=764.9+/-407.6;ESP6500_EA_GTC=3241,968,91;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022111.3:intron,NM_001190481.1:intron;ESP6500_GL=CLSPN;ESP6500_GRCh38_POSITION=1:35751234;ESP6500_GTC=3518,1944,1040;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022111.3:c.2028+16G>A,NM_001190481.1:c.1836+16G>A;ESP6500_MAF=13.3721,34.7411,30.9443;ESP6500_TAC=8980,4024	GT:AD:DP:GQ:PL	0/1:35,18:53:99:313,0,981
chr1	35760347	rs7537203	T	C	682.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.992;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.578;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7537203;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|CLSPN|CLSPN|transcript|NM_022111.3|protein_coding|8/25|c.1574A>G|p.Asn525Ser|1654/8484|1574/4020|525/1339||,C|missense_variant|MODERATE|CLSPN|CLSPN|transcript|NM_001190481.1|protein_coding|8/24|c.1574A>G|p.Asn525Ser|1654/8292|1574/3828|525/1275||;p3_1000G_AA=T|||;p3_1000G_AC=2272;p3_1000G_AF=0.453674;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=18733;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.1352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36225948;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2607,1799;ESP6500_AA_AGE=641.4+/-397.5;ESP6500_AA_GTC=778,1051,374;ESP6500_CDS_SIZES=NM_022111.3:4020,NM_001190481.1:3828;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=84;ESP6500_EA_AC=1148,7452;ESP6500_EA_AGE=235.8+/-268.3;ESP6500_EA_GTC=90,968,3242;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022111.3:missense,NM_001190481.1:missense;ESP6500_GL=CLSPN;ESP6500_GRCh38_POSITION=1:35760347;ESP6500_GS=46,46;ESP6500_GTC=868,2019,3616;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022111.3:c.1574A>G,NM_001190481.1:c.1574A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022111.3:p.(N525S),NM_001190481.1:p.(N525S);ESP6500_MAF=13.3488,40.8307,28.8713;ESP6500_PH=probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=3755,9251	GT:AD:DP:GQ:PL	0/1:28,29:57:99:711,0,614
chr1	35841076	rs539541516	A	G	475.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.05;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=5.651;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.04;ReadPosRankSum=0.954;SOR=2.448;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|AGO4|AGO4|transcript|NM_017629.3|protein_coding|13/17|c.1725-89A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21193;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36306677;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,14:19:99:504,0,127
chr1	35850817	rs11403763;~rs11403763	C	CA	187.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.47;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11403763;dbSNPBuildID=137;ANN=CA|intron_variant|MODIFIER|AGO4|AGO4|transcript|NM_017629.3|protein_coding|16/17|c.2278-27dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4975;p3_1000G_AF=0.993411;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17379;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.9911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36316418;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL;ESP6500_AA_AC=3326,290,648;ESP6500_AA_GTC=1204,288,630,0,2,8;ESP6500_CDS_SIZES=NM_017629.3:2586,NM_017629.3:2586;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=26;ESP6500_EA_AC=6929,619,702;ESP6500_EA_GTC=2806,617,700,0,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017629.3:intron,NM_017629.3:intron;ESP6500_GL=EIF2C4;ESP6500_GRCh38_POSITION=1:35850817;ESP6500_GTC=4010,905,1330,0,4,8;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_017629.3:c.2278-37_2278-36insAA,NM_017629.3:c.2278-37_2278-36insA;ESP6500_MAF=16.0121,21.9981,18.0518;ESP6500_TAC=10255,909,1350	GT:AD:DP:GQ:PL	1/1:0,8:8:24:225,24,0
chr1	35850970	rs4652895	A	C	844.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.316;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0.797;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.835;SOR=0.795;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4652895;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|AGO4|AGO4|transcript|NM_017629.3|protein_coding|17/18|c.2394A>C|p.Ser798Ser|2584/7060|2394/2586|798/861||;p3_1000G_AA=A|||;p3_1000G_AC=2459;p3_1000G_AF=0.491014;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=14750;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.8539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36316571;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1161,3245;ESP6500_AA_AGE=410.0+/-335.2;ESP6500_AA_GTC=174,813,1216;ESP6500_CDS_SIZES=NM_017629.3:2586;ESP6500_CG=-6.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=101;ESP6500_EA_AC=7390,1210;ESP6500_EA_AGE=762.7+/-407.6;ESP6500_EA_GTC=3190,1010,100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017629.3:coding-synonymous;ESP6500_GL=EIF2C4;ESP6500_GRCh38_POSITION=1:35850970;ESP6500_GTC=3364,1823,1316;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_017629.3:c.2394A>C;ESP6500_HGVS_PROTEIN_VAR=NM_017629.3:p.(S798);ESP6500_MAF=14.0698,26.3504,34.2534;ESP6500_TAC=8551,4455	GT:AD:DP:GQ:PL	0/1:45,41:86:99:873,0,973
chr1	35883533	rs574809993	G	A	560.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.999;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=2.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.279;SOR=0.461;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_001317122.1|protein_coding|1/18|c.25+87G>A||||||,A|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_001317123.1|protein_coding|1/18|c.-200-4894G>A||||||,A|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_012199.4|protein_coding|1/18|c.25+87G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14600;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36349134;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,27:61:99:589,0,915
chr1	35894068	rs2296470	A	G	483.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.073;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=4.943;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.838;SOR=0.397;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296470;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|AGO1|AGO1|transcript|NM_001317122.1|protein_coding|6/19|c.681A>G|p.Pro227Pro|908/7492|681/2676|227/891||,G|synonymous_variant|LOW|AGO1|AGO1|transcript|NM_001317123.1|protein_coding|6/19|c.456A>G|p.Pro152Pro|752/7336|456/2349|152/782||,G|synonymous_variant|LOW|AGO1|AGO1|transcript|NM_012199.4|protein_coding|6/19|c.681A>G|p.Pro227Pro|908/7492|681/2574|227/857||;p3_1000G_AA=A|||;p3_1000G_AC=1536;p3_1000G_AF=0.306709;p3_1000G_AFR_AF=0.3994;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=20705;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36359669;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1544,2862;ESP6500_AA_AGE=486.5+/-360.6;ESP6500_AA_GTC=272,1000,931;ESP6500_CDS_SIZES=NM_012199.2:2574;ESP6500_CG=-4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=93;ESP6500_EA_AC=75,8525;ESP6500_EA_AGE=44.9+/-103.4;ESP6500_EA_GTC=0,75,4225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012199.2:coding-synonymous;ESP6500_GL=EIF2C1;ESP6500_GRCh38_POSITION=1:35894068;ESP6500_GTC=272,1075,5156;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012199.2:c.681A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012199.2:p.(P227);ESP6500_MAF=0.8721,35.0431,12.4481;ESP6500_TAC=1619,11387	GT:AD:DP:GQ:PL	0/1:15,21:36:99:512,0,346
chr1	35902179	rs595961	A	G	768.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=1.879;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.605;SOR=0.957;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs595961;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_001317122.1|protein_coding|10/18|c.1264-25A>G||||||,G|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_001317123.1|protein_coding|10/18|c.1039-25A>G||||||,G|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_012199.4|protein_coding|10/18|c.1264-25A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2736;p3_1000G_AF=0.546326;p3_1000G_AFR_AF=0.8843;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=17135;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.1412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36367780;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3301,1105;ESP6500_AA_AGE=393.1+/-328.7;ESP6500_AA_GTC=1261,779,163;ESP6500_CDS_SIZES=NM_012199.2:2574;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=104;ESP6500_EA_AC=1234,7366;ESP6500_EA_AGE=760.8+/-407.6;ESP6500_EA_GTC=101,1032,3167;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012199.2:intron;ESP6500_GL=EIF2C1;ESP6500_GRCh38_POSITION=1:35902179;ESP6500_GTC=1362,1811,3330;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012199.2:c.1264-25A>G;ESP6500_MAF=14.3488,25.0794,34.8685;ESP6500_TAC=4535,8471	GT:AD:DP:GQ:PL	0/1:46,32:78:99:797,0,1155
chr1	35919460	rs4142288	G	A	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.839;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=8.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=0.999;SOR=0.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4142288;dbSNPBuildID=110;ANN=A|sequence_feature|MODERATE|AGO1|AGO1|modified-residue:phosphoserine|NM_012199.4|protein_coding|18/18|c.2466-39G>A||||||,A|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_001317122.1|protein_coding|18/18|c.2466-39G>A||||||,A|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_001317123.1|protein_coding|18/18|c.2241-39G>A||||||,A|intron_variant|MODIFIER|AGO1|AGO1|transcript|NM_012199.4|protein_coding|18/18|c.2466-39G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1088;p3_1000G_AF=0.217252;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=18627;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36385061;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0644;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=463,3937;ESP6500_AA_GTC=21,421,1758;ESP6500_CDS_SIZES=NM_012199.2:2574;ESP6500_CG=1.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=17;ESP6500_EA_AC=72,8520;ESP6500_EA_GTC=0,72,4224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012199.2:intron;ESP6500_GL=EIF2C1;ESP6500_GRCh38_POSITION=1:35919460;ESP6500_GTC=21,493,5982;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012199.2:c.2466-39G>A;ESP6500_MAF=0.838,10.5227,4.1179;ESP6500_TAC=535,12457	GT:AD:DP:GQ:PL	0/1:9,8:17:99:206,0,326
chr1	36009093	rs771503373	TGGGG	T	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-1.383;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|AGO3|AGO3|transcript|NM_024852.3|protein_coding|8/18|c.1029+50_1029+53delGGGG||||||,T|intron_variant|MODIFIER|AGO3|AGO3|transcript|NM_177422.2|protein_coding|6/16|c.327+50_327+53delGGGG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,2:4:75:0|1:36009093_TGGGG_T:75,0,78
chr1	36009097	.	G	GTTTT	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-1.383;SOR=0.693;INS;HET;VARTYPE=INS;ANN=GTTTT|intron_variant|MODIFIER|AGO3|AGO3|transcript|NM_024852.3|protein_coding|8/18|c.1029+54_1029+55insTTTT||||||INFO_REALIGN_3_PRIME,GTTTT|intron_variant|MODIFIER|AGO3|AGO3|transcript|NM_177422.2|protein_coding|6/16|c.327+54_327+55insTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,2:4:75:0|1:36009093_TGGGG_T:75,0,78
chr1	36009099	rs1481421682	C	T	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.967;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|AGO3|AGO3|transcript|NM_024852.3|protein_coding|8/18|c.1029+55C>T||||||,T|intron_variant|MODIFIER|AGO3|AGO3|transcript|NM_177422.2|protein_coding|6/16|c.327+55C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,1:3:75:0|1:36009093_TGGGG_T:75,0,78
chr1	36036032	rs11312730;rs1486613850;rs770595505	CA	C	63.82	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.64;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11312730;dbSNPBuildID=151,144,134;ANN=C|intron_variant|MODIFIER|AGO3|AGO3|transcript|NM_024852.3|protein_coding|13/18|c.1752-124delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|AGO3|AGO3|transcript|NM_177422.2|protein_coding|11/16|c.1050-124delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,6:6:17:101,17,0
chr1	36085669	rs111955513;rs369502778	G	GC	152.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=-1.611;SOR=1.863;INS;HET;VARTYPE=INS;dbSNP138_ID=rs111955513;dbSNPBuildID=132;ANN=GC|upstream_gene_variant|MODIFIER|ADPRHL2|ADPRHL2|transcript|NM_017825.2|protein_coding||c.-3236_-3235insC|||||3182|,GC|intron_variant|MODIFIER|TEKT2|TEKT2|transcript|NM_014466.2|protein_coding|3/9|c.283-165dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=871;p3_1000G_AF=0.173922;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=13313;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36551270;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:2,6:8:47:190,0,47
chr1	36088072	rs399393	A	G	1167.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.19;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs399393;dbSNPBuildID=80;ANN=G|synonymous_variant|LOW|TEKT2|TEKT2|transcript|NM_014466.2|protein_coding|10/10|c.1179A>G|p.Thr393Thr|1306/1509|1179/1293|393/430||,G|upstream_gene_variant|MODIFIER|ADPRHL2|ADPRHL2|transcript|NM_017825.2|protein_coding||c.-833A>G|||||780|;p3_1000G_AA=G|||;p3_1000G_AC=4701;p3_1000G_AF=0.938698;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=21560;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36553673;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4070,334;ESP6500_AA_AGE=169.1+/-199.8;ESP6500_AA_GTC=1879,312,11;ESP6500_CDS_SIZES=NM_014466.2:1293;ESP6500_CG=-1.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=40;ESP6500_EA_AC=7898,702;ESP6500_EA_AGE=170.7+/-221.8;ESP6500_EA_GTC=3632,634,34;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014466.2:coding-synonymous;ESP6500_GL=TEKT2;ESP6500_GRCh38_POSITION=1:36088072;ESP6500_GTC=5511,946,45;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014466.2:c.1179A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014466.2:p.(T393);ESP6500_MAF=8.1628,7.584,7.9668;ESP6500_TAC=11968,1036	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1196,120,0
chr1	36088841	rs11263852	G	C	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.163;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.473;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11263852;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|ADPRHL2|ADPRHL2|transcript|NM_017825.2|protein_coding||c.-64G>C|||||11|,C|downstream_gene_variant|MODIFIER|TEKT2|TEKT2|transcript|NM_014466.2|protein_coding||c.*655G>C|||||566|,C|intergenic_region|MODIFIER|TEKT2-ADPRHL2|TEKT2-ADPRHL2|intergenic_region|TEKT2-ADPRHL2|||n.36088841G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3355;p3_1000G_AF=0.669928;p3_1000G_AFR_AF=0.4788;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=12802;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.9006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36554442;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:221,0,116
chr1	36092018	rs2236387	G	A	618.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.726;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.405;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.757;SOR=0.373;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236387;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|ADPRHL2|ADPRHL2|transcript|NM_017825.2|protein_coding|4/6|c.625G>A|p.Glu209Lys|678/1691|625/1092|209/363||,A|downstream_gene_variant|MODIFIER|TEKT2|TEKT2|transcript|NM_014466.2|protein_coding||c.*3832G>A|||||3743|,A|downstream_gene_variant|MODIFIER|COL8A2|COL8A2|transcript|NM_005202.3|protein_coding||c.*5551C>T|||||3218|,A|downstream_gene_variant|MODIFIER|COL8A2|COL8A2|transcript|NM_001294347.1|protein_coding||c.*5551C>T|||||3218|;p3_1000G_AA=G|||;p3_1000G_AC=872;p3_1000G_AF=0.174121;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=18600;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36557619;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1070,3336;ESP6500_AA_AGE=385.8+/-325.9;ESP6500_AA_GTC=119,832,1252;ESP6500_CDS_SIZES=NM_017825.2:1092;ESP6500_CG=3.6;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=88;ESP6500_EA_AC=46,8554;ESP6500_EA_AGE=29.6+/-80.5;ESP6500_EA_GTC=0,46,4254;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017825.2:missense;ESP6500_GL=ADPRHL2;ESP6500_GRCh38_POSITION=1:36092018;ESP6500_GS=56;ESP6500_GTC=119,878,5506;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017825.2:c.625G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017825.2:p.(E209K);ESP6500_MAF=0.5349,24.2851,8.5807;ESP6500_PH=benign:0.0;ESP6500_TAC=1116,11890	GT:AD:DP:GQ:PL	0/1:31,26:57:99:647,0,888
chr1	36099983	rs274753	C	G	636.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs274753;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|COL8A2|COL8A2|transcript|NM_005202.3|protein_coding|3/3|c.193+67G>C||||||,G|intron_variant|MODIFIER|COL8A2|COL8A2|transcript|NM_001294347.1|protein_coding|3/3|c.-3+212G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4616;p3_1000G_AF=0.921725;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=15661;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36565584;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:665,57,0
chr1	36100016	rs274754	G	A	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.24;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.1;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.43;SOR=0.164;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs274754;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|COL8A2|COL8A2|transcript|NM_005202.3|protein_coding|3/3|c.193+34C>T||||||,A|intron_variant|MODIFIER|COL8A2|COL8A2|transcript|NM_001294347.1|protein_coding|3/3|c.-3+179C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2417;p3_1000G_AF=0.482628;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=14828;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36565617;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1741,2665;ESP6500_AA_AGE=517.5+/-369.5;ESP6500_AA_GTC=356,1029,818;ESP6500_CDS_SIZES=NM_005202.2:2112;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=44;ESP6500_EA_AC=6751,1849;ESP6500_EA_AGE=728.0+/-406.7;ESP6500_EA_GTC=2668,1415,217;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005202.2:intron;ESP6500_GL=COL8A2;ESP6500_GRCh38_POSITION=1:36100016;ESP6500_GTC=3024,2444,1035;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005202.2:c.193+34C>T;ESP6500_MAF=21.5,39.5143,34.7071;ESP6500_TAC=8492,4514	GT:AD:DP:GQ:PL	0/1:9,15:24:99:352,0,241
chr1	36100138	rs57985157	C	T	962.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.32;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs57985157;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|COL8A2|COL8A2|transcript|NM_005202.3|protein_coding|3/4|c.105G>A|p.Ala35Ala|194/4534|105/2112|35/703||,T|intron_variant|MODIFIER|COL8A2|COL8A2|transcript|NM_001294347.1|protein_coding|3/3|c.-3+57G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=484;p3_1000G_AF=0.0966454;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=12077;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36565739;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=114,4292;ESP6500_AA_AGE=803.2+/-415.7;ESP6500_AA_GTC=0,114,2089;ESP6500_CDS_SIZES=NM_005202.2:2112;ESP6500_CG=0.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=30;ESP6500_EA_AC=36,8564;ESP6500_EA_AGE=806.8+/-407.2;ESP6500_EA_GTC=0,36,4264;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005202.2:coding-synonymous;ESP6500_GL=COL8A2;ESP6500_GRCh38_POSITION=1:36100138;ESP6500_GTC=0,150,6353;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005202.2:c.105G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005202.2:p.(A35);ESP6500_MAF=0.4186,2.5874,1.1533;ESP6500_TAC=150,12856	GT:AD:DP:GQ:PL	1/1:0,34:34:99:991,102,0
chr1	36137342	rs2231318	C	T	669.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2231318;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270894.1|protein_coding|4/4|c.448-20G>A||||||,T|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270896.1|protein_coding|4/4|c.286-20G>A||||||,T|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270897.1|protein_coding|2/2|c.226-20G>A||||||,T|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_014408.4|protein_coding|4/4|c.424-20G>A||||||,T|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NR_073097.1|pseudogene|2/2|n.607-20G>A||||||,T|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NR_073098.1|pseudogene|1/1|n.179-20G>A||||||,T|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270895.1|protein_coding|4/4|c.286-20G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3758;p3_1000G_AF=0.750399;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=18866;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.7406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36602943;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6247;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3607,799;ESP6500_AA_AGE=320.4+/-296.6;ESP6500_AA_GTC=1489,629,85;ESP6500_CDS_SIZES=NM_014408.3:543;ESP6500_CG=-0.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=41;ESP6500_EA_AC=6429,2171;ESP6500_EA_AGE=370.5+/-335.9;ESP6500_EA_GTC=2414,1601,285;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014408.3:intron;ESP6500_GL=TRAPPC3;ESP6500_GRCh38_POSITION=1:36137342;ESP6500_GTC=3903,2230,370;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014408.3:c.424-20G>A;ESP6500_MAF=25.2442,18.1344,22.8356;ESP6500_TAC=10036,2970	GT:AD:DP:GQ:PL	1/1:0,22:22:66:698,66,0
chr1	36139877	rs2231312	A	G	577.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2231312;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270894.1|protein_coding|2/4|c.141-34T>C||||||,G|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270896.1|protein_coding|2/4|c.3-58T>C||||||,G|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270897.1|protein_coding|1/2|c.43-1899T>C||||||,G|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_014408.4|protein_coding|2/4|c.141-58T>C||||||,G|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NR_073097.1|pseudogene|1/2|n.424-1899T>C||||||,G|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NR_073098.1|pseudogene|1/1|n.179-2555T>C||||||,G|intron_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270895.1|protein_coding|2/4|c.3-58T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=634;p3_1000G_AF=0.126597;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=20724;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36605478;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:606,54,0
chr1	36156309	rs2274166	G	C	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274166;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_018067.4|protein_coding|1/17|c.-109G>C|||||109|,C|5_prime_UTR_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286365.1|protein_coding|1/16|c.-109G>C|||||109|,C|5_prime_UTR_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286366.1|protein_coding|1/18|c.-109G>C|||||109|,C|upstream_gene_variant|MODIFIER|TRAPPC3|TRAPPC3|transcript|NM_001270895.1|protein_coding||c.-16239C>G|||||256|;p3_1000G_AA=G|||;p3_1000G_AC=622;p3_1000G_AF=0.124201;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=5807;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36621910;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr1	36174881	rs765941641	G	A	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.566;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.203;SOR=0.141;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_018067.4|protein_coding|5/16|c.740-17G>A||||||,A|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286365.1|protein_coding|5/15|c.740-1318G>A||||||,A|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286366.1|protein_coding|5/17|c.740-17G>A||||||	GT:AD:DP:GQ:PL	0/1:6,11:17:99:233,0,173
chr1	36175087	rs142415462;rs373457524	ACCAGGTCCCTGGAGCCCTCACATACT	A	99.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs373457524,rs142415462;dbSNPBuildID=134,138;ANN=A|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_018067.4|protein_coding|6/16|c.850+89_850+114delTGGAGCCCTCACATACTCCAGGTCCC||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286365.1|protein_coding|5/15|c.740-1102_740-1077delTGGAGCCCTCACATACTCCAGGTCCC||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286366.1|protein_coding|6/17|c.850+89_850+114delTGGAGCCCTCACATACTCCAGGTCCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=629;p3_1000G_AF=0.125599;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=18637;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36640688;p3_1000G_GRCH37_REF=ACCAGGTCCCTGGAGCCCTCACATACT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:136,9,0
chr1	36176819	rs475591	T	C	910.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs475591;dbSNPBuildID=83;ANN=C|sequence_feature|MODERATE|MAP7D1|MAP7D1|modified-residue:phosphoserine|NM_018067.4|protein_coding|8/17|c.1356T>C||||||,C|sequence_feature|MODERATE|MAP7D1|MAP7D1|modified-residue:phosphoserine|NM_001286365.1|protein_coding|7/16|c.1245T>C||||||,C|sequence_feature|MODERATE|MAP7D1|MAP7D1|modified-residue:phosphoserine|NM_001286366.1|protein_coding|9/18|c.1260T>C||||||,C|synonymous_variant|LOW|MAP7D1|MAP7D1|transcript|NM_018067.4|protein_coding|8/17|c.1356T>C|p.Ser452Ser|1809/3570|1356/2526|452/841||,C|synonymous_variant|LOW|MAP7D1|MAP7D1|transcript|NM_001286365.1|protein_coding|7/16|c.1245T>C|p.Ser415Ser|1698/3456|1245/2412|415/803||,C|synonymous_variant|LOW|MAP7D1|MAP7D1|transcript|NM_001286366.1|protein_coding|9/18|c.1260T>C|p.Ser420Ser|1713/3471|1260/2427|420/808||;p3_1000G_AA=C|||;p3_1000G_AC=3758;p3_1000G_AF=0.750399;p3_1000G_AFR_AF=0.8896;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=11779;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.5755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36642420;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3491,741;ESP6500_AA_GTC=1485,521,110;ESP6500_CDS_SIZES=NM_018067.3:2526;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=16;ESP6500_EA_AC=4850,3516;ESP6500_EA_GTC=1484,1882,817;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018067.3:coding-synonymous;ESP6500_GL=MAP7D1;ESP6500_GRCh38_POSITION=1:36176819;ESP6500_GTC=2969,2403,927;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018067.3:c.1356T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018067.3:p.(S452);ESP6500_MAF=42.0273,17.5095,33.7911;ESP6500_TAC=8341,4257	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:90:1|1:36176819_T_C:939,90,0
chr1	36178831	rs142470160;rs3831971;~rs72120207	C	CGGCG	547.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.85;SOR=0.836;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs142470160,rs3831971;dbSNPBuildID=134,107;ANN=CGGCG|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_018067.4|protein_coding|11/16|c.2025+15_2025+18dupCGGG||||||INFO_REALIGN_3_PRIME,CGGCG|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286365.1|protein_coding|10/15|c.1914+15_1914+18dupCGGG||||||INFO_REALIGN_3_PRIME,CGGCG|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286366.1|protein_coding|12/17|c.1929+15_1929+18dupCGGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1471;p3_1000G_AF=0.29373;p3_1000G_AFR_AF=0.5408;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=8896;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36644432;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=INDEL;ESP6500_AA_AC=1040,1752;ESP6500_AA_GTC=333,374,689;ESP6500_CDS_SIZES=NM_018067.3:2526;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=13;ESP6500_EA_AC=35,5963;ESP6500_EA_GTC=6,23,2970;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018067.3:intron;ESP6500_GL=MAP7D1;ESP6500_GRCh38_POSITION=1:36178831;ESP6500_GTC=339,397,3659;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018067.3:c.2025+8_2025+9insGGCG;ESP6500_MAF=0.5835,37.2493,12.2298;ESP6500_TAC=1075,7715	GT:AD:DP:GQ:PL	1/1:0,13:13:39:585,39,0
chr1	36180123	rs57119965	C	G	1903.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.57;SOR=1.848;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs57119965;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_018067.4|protein_coding|16/16|c.2515+56C>G||||||,G|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286365.1|protein_coding|15/15|c.2401+56C>G||||||,G|intron_variant|MODIFIER|MAP7D1|MAP7D1|transcript|NM_001286366.1|protein_coding|17/17|c.2416+56C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=629;p3_1000G_AF=0.125599;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=18916;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36645724;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1932,153,0
chr1	36286832	rs6425977	C	T	1375.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.65;QD=34.39;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6425977;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|THRAP3|THRAP3|transcript|NM_001321471.1|protein_coding|5/13|c.602C>T|p.Ala201Val|962/4567|602/2868|201/955||,T|missense_variant|MODERATE|THRAP3|THRAP3|transcript|NM_001321473.1|protein_coding|4/12|c.602C>T|p.Ala201Val|830/4432|602/2865|201/954||,T|missense_variant|MODERATE|THRAP3|THRAP3|transcript|NM_005119.3|protein_coding|4/12|c.602C>T|p.Ala201Val|826/4431|602/2868|201/955||;p3_1000G_AA=C|||;p3_1000G_AC=3984;p3_1000G_AF=0.795527;p3_1000G_AFR_AF=0.5197;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=18229;p3_1000G_EAS_AF=0.9484;p3_1000G_EUR_AF=0.8837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36752433;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2612,1794;ESP6500_AA_AGE=633.7+/-396.1;ESP6500_AA_GTC=790,1032,381;ESP6500_CDS_SIZES=NM_005119.3:2868;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=7549,1051;ESP6500_EA_AGE=765.9+/-407.6;ESP6500_EA_GTC=3312,925,63;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005119.3:missense;ESP6500_GL=THRAP3;ESP6500_GRCh38_POSITION=1:36286832;ESP6500_GS=64;ESP6500_GTC=4102,1957,444;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005119.3:c.602C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005119.3:p.(A201V);ESP6500_MAF=12.2209,40.7172,21.8745;ESP6500_PH=benign:0.103;ESP6500_TAC=10161,2845	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1404,120,0
chr1	36296795	rs1566589	C	T	1508.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=1.314;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1566589;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_001321471.1|protein_coding|10/12|c.2303+25C>T||||||,T|intron_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_001321473.1|protein_coding|9/11|c.2303+25C>T||||||,T|intron_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_005119.3|protein_coding|9/11|c.2303+25C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4638;p3_1000G_AF=0.926118;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=19353;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36762396;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3635,771;ESP6500_AA_AGE=295.9+/-283.9;ESP6500_AA_GTC=1498,639,66;ESP6500_CDS_SIZES=NM_005119.3:2868;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=51;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=4293,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005119.3:intron;ESP6500_GL=THRAP3;ESP6500_GRCh38_POSITION=1:36296795;ESP6500_GTC=5791,646,66;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005119.3:c.2303+25C>T;ESP6500_MAF=0.0814,17.4989,5.9819;ESP6500_TAC=12228,778	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1537,153,0
chr1	36301799	rs882799	C	T	186.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs882799;dbSNPBuildID=86;ANN=T|upstream_gene_variant|MODIFIER|SH3D21|SH3D21|transcript|NM_001162530.1|protein_coding||c.-4622C>T|||||4594|,T|intron_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_001321471.1|protein_coding|12/12|c.2646+103C>T||||||,T|intron_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_001321473.1|protein_coding|11/11|c.2643+103C>T||||||,T|intron_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_005119.3|protein_coding|11/11|c.2646+103C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3978;p3_1000G_AF=0.794329;p3_1000G_AFR_AF=0.5166;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=20236;p3_1000G_EAS_AF=0.9484;p3_1000G_EUR_AF=0.8827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36767400;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:215,18,0
chr1	36307804	rs35343437	T	G	1218.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.02;SOR=1.005;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35343437;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|SH3D21|SH3D21|transcript|NM_001162530.1|protein_coding|6/16|c.471T>G|p.Pro157Pro|499/2519|471/2271|157/756||,G|synonymous_variant|LOW|SH3D21|SH3D21|transcript|NM_024676.4|protein_coding|3/13|c.138T>G|p.Pro46Pro|305/2325|138/1938|46/645||,G|downstream_gene_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_001321471.1|protein_coding||c.*3787T>G|||||2448|,G|downstream_gene_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_001321473.1|protein_coding||c.*3787T>G|||||2448|,G|downstream_gene_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_005119.3|protein_coding||c.*3787T>G|||||2448|;p3_1000G_AA=T|||;p3_1000G_AC=2109;p3_1000G_AF=0.421126;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=19550;p3_1000G_EAS_AF=0.7192;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36773405;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=257,1127;ESP6500_AA_GTC=20,217,455;ESP6500_CDS_SIZES=NM_024676.4:1938,NM_001162530.1:2271;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=81;ESP6500_EA_AC=1567,1615;ESP6500_EA_GTC=371,825,395;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024676.4:coding-synonymous,NM_001162530.1:coding-synonymous;ESP6500_GL=SH3D21;ESP6500_GRCh38_POSITION=1:36307804;ESP6500_GTC=391,1042,850;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_024676.4:c.138T>G,NM_001162530.1:c.471T>G;ESP6500_HGVS_PROTEIN_VAR=NM_024676.4:p.(P46),NM_001162530.1:p.(P157);ESP6500_MAF=49.2458,18.5694,39.9474;ESP6500_TAC=1824,2742	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1247,125,0
chr1	36308218	rs11263871	C	G	852.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11263871;dbSNPBuildID=120;ANN=G|downstream_gene_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_001321471.1|protein_coding||c.*4201C>G|||||2862|,G|downstream_gene_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_001321473.1|protein_coding||c.*4201C>G|||||2862|,G|downstream_gene_variant|MODIFIER|THRAP3|THRAP3|transcript|NM_005119.3|protein_coding||c.*4201C>G|||||2862|,G|intron_variant|MODIFIER|SH3D21|SH3D21|transcript|NM_001162530.1|protein_coding|8/15|c.639+9C>G||||||,G|intron_variant|MODIFIER|SH3D21|SH3D21|transcript|NM_024676.4|protein_coding|5/12|c.306+9C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4643;p3_1000G_AF=0.927117;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=16914;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36773819;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1136,248;ESP6500_AA_GTC=464,208,20;ESP6500_CDS_SIZES=NM_024676.4:1938,NM_001162530.1:2271;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=13;ESP6500_EA_AC=3179,3;ESP6500_EA_GTC=1588,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024676.4:intron,NM_001162530.1:intron;ESP6500_GL=SH3D21;ESP6500_GRCh38_POSITION=1:36308218;ESP6500_GTC=2052,211,20;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024676.4:c.306+9C>G,NM_001162530.1:c.639+9C>G;ESP6500_MAF=0.0943,17.9191,5.4972;ESP6500_TAC=4315,251	GT:AD:DP:GQ:PL	1/1:0,27:27:81:881,81,0
chr1	36319669	rs2282431	C	T	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.58;ReadPosRankSum=0.993;SOR=2.376;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282431;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|SH3D21|SH3D21|transcript|NM_001162530.1|protein_coding|13/15|c.1012-6C>T||||||,T|splice_region_variant&intron_variant|LOW|SH3D21|SH3D21|transcript|NM_024676.4|protein_coding|10/12|c.679-6C>T||||||,T|downstream_gene_variant|MODIFIER|EVA1B|EVA1B|transcript|NM_001304762.1|protein_coding||c.*2626G>A|||||2361|,T|downstream_gene_variant|MODIFIER|EVA1B|EVA1B|transcript|NR_130899.1|pseudogene||n.*2361G>A|||||2361|,T|downstream_gene_variant|MODIFIER|EVA1B|EVA1B|transcript|NM_018166.2|protein_coding||c.*2626G>A|||||2361|;p3_1000G_AA=C|||;p3_1000G_AC=1881;p3_1000G_AF=0.375599;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=16027;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36785270;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=433,951;ESP6500_AA_GTC=58,317,317;ESP6500_CDS_SIZES=NM_024676.4:1938,NM_001162530.1:2271;ESP6500_CG=2.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=778,2404;ESP6500_EA_GTC=96,586,909;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024676.4:intron,NM_001162530.1:intron;ESP6500_GL=SH3D21;ESP6500_GRCh38_POSITION=1:36319669;ESP6500_GTC=154,903,1226;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024676.4:c.679-6C>T,NM_001162530.1:c.1012-6C>T;ESP6500_MAF=24.45,31.2861,26.5221;ESP6500_TAC=1211,3355	GT:AD:DP:GQ:PL	0/1:11,4:15:97:97,0,311
chr1	36322755	rs7536394	A	G	329.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7536394;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|SH3D21|SH3D21|transcript|NM_001162530.1|protein_coding||c.*1628A>G|||||1408|,G|downstream_gene_variant|MODIFIER|SH3D21|SH3D21|transcript|NM_024676.4|protein_coding||c.*1628A>G|||||1408|,G|intron_variant|MODIFIER|EVA1B|EVA1B|transcript|NM_001304762.1|protein_coding|2/2|c.68-30T>C||||||,G|intron_variant|MODIFIER|EVA1B|EVA1B|transcript|NR_130899.1|pseudogene|1/1|n.191-30T>C||||||,G|intron_variant|MODIFIER|EVA1B|EVA1B|transcript|NM_018166.2|protein_coding|2/2|c.68-30T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4879;p3_1000G_AF=0.974241;p3_1000G_AFR_AF=0.9372;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=8866;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36788356;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2372,84;ESP6500_AA_GTC=1144,84,0;ESP6500_CDS_SIZES=NM_018166.1:498;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=2;ESP6500_EA_AC=5445,5;ESP6500_EA_GTC=2720,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018166.1:intron;ESP6500_GL=FAM176B;ESP6500_GRCh38_POSITION=1:36322755;ESP6500_GTC=3864,89,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018166.1:c.68-30T>C;ESP6500_MAF=0.0917,3.4202,1.1257;ESP6500_TAC=7817,89	GT:AD:DP:GQ:PL	1/1:0,11:11:33:358,33,0
chr1	36355414	.	A	G	1501.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.48;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=1.582;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.213;SOR=0.523;SNP;HET;VARTYPE=SNP;ANN=G|missense_variant|MODERATE|STK40|STK40|transcript|NM_001282546.1|protein_coding|5/11|c.377T>C|p.Val126Ala|590/3672|377/1323|126/440||,G|missense_variant|MODERATE|STK40|STK40|transcript|NM_001282547.1|protein_coding|5/11|c.362T>C|p.Val121Ala|575/3657|362/1308|121/435||,G|missense_variant|MODERATE|STK40|STK40|transcript|NM_032017.2|protein_coding|6/12|c.362T>C|p.Val121Ala|812/3894|362/1308|121/435||	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1530,0,1256
chr1	36358720	rs3795496	C	T	1059.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.518;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=1.555;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-0.961;SOR=0.894;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795496;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|STK40|STK40|transcript|NM_001282546.1|protein_coding|3/10|c.213+17G>A||||||,T|intron_variant|MODIFIER|STK40|STK40|transcript|NM_001282547.1|protein_coding|3/10|c.198+17G>A||||||,T|intron_variant|MODIFIER|STK40|STK40|transcript|NM_032017.2|protein_coding|4/11|c.198+17G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=464;p3_1000G_AF=0.0926518;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=18637;p3_1000G_EAS_AF=0.0784;p3_1000G_EUR_AF=0.163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36824321;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=174,4232;ESP6500_AA_AGE=111.6+/-149.8;ESP6500_AA_GTC=0,174,2029;ESP6500_CDS_SIZES=NM_032017.1:1308;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=120;ESP6500_EA_AC=1508,7092;ESP6500_EA_AGE=286.2+/-297.6;ESP6500_EA_GTC=133,1242,2925;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032017.1:intron;ESP6500_GL=STK40;ESP6500_GRCh38_POSITION=1:36358720;ESP6500_GTC=133,1416,4954;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032017.1:c.198+17G>A;ESP6500_MAF=17.5349,3.9492,12.9325;ESP6500_TAC=1682,11324	GT:AD:DP:GQ:PL	0/1:65,45:110:99:1088,0,1755
chr1	36416147	rs143745597	A	G	535.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.24;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143745597;dbSNPBuildID=134;ANN=G|downstream_gene_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding||c.*1992T>C|||||1759|,G|intergenic_region|MODIFIER|LSM10-OSCP1|LSM10-OSCP1|intergenic_region|LSM10-OSCP1|||n.36416147A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19463;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36881748;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,21:48:99:564,0,660
chr1	36418345	rs16822888	T	C	458.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=-0.328;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16822888;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|9/9|c.1024-90A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1936;p3_1000G_AF=0.386581;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=20153;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.2952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36883946;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,16:24:99:487,0,189
chr1	36418872	rs57413616	A	G	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.34;ReadPosRankSum=1.92;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57413616;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|9/9|c.1023+119T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1935;p3_1000G_AF=0.386382;p3_1000G_AFR_AF=0.3843;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=14305;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.2952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36884473;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,2:11:54:54,0,264
chr1	36418926	rs373575842;rs760396363	C	CA	250.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.691;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.691;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-2.303;SOR=0.307;INS;HET;VARTYPE=INS;dbSNPBuildID=138,144;ANN=CA|intron_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|9/9|c.1023+64dupT||||||	GT:AD:DP:GQ:PL	0/1:18,7:25:99:288,0,707
chr1	36418929	rs72663495	G	A	362.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.238;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-3.009;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72663495;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|9/9|c.1023+62C>T||||||	GT:AD:DP:GQ:PL	0/1:15,13:28:99:391,0,666
chr1	36420516	rs2275477	C	T	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.027;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.033;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275477;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|8/10|c.919G>A|p.Gly307Arg|1035/1489|919/1140|307/379||;p3_1000G_AA=c|||;p3_1000G_AC=1267;p3_1000G_AF=0.252995;p3_1000G_AFR_AF=0.32;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=17032;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.2068;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36886117;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA_AC=1378,3028;ESP6500_AA_AGE=454.4+/-350.6;ESP6500_AA_GTC=210,958,1035;ESP6500_CDS_SIZES=NM_145047.4:1140;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=238;ESP6500_EA_AC=1849,6751;ESP6500_EA_AGE=331.5+/-319.7;ESP6500_EA_GTC=207,1435,2658;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145047.4:missense;ESP6500_GL=OSCP1;ESP6500_GRCh38_POSITION=1:36420516;ESP6500_GS=125;ESP6500_GTC=417,2393,3693;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145047.4:c.919G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145047.4:p.(G307R);ESP6500_MAF=21.5,31.2755,24.8116;ESP6500_PH=benign:0.076;ESP6500_TAC=3227,9779	GT:AD:DP:GQ:PL	0/1:14,13:27:99:315,0,335
chr1	36422101	rs2236565	C	T	1419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.63;SOR=2.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236565;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|7/9|c.819+49G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3539;p3_1000G_AF=0.706669;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=22351;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.6282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36887702;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3589,817;ESP6500_AA_AGE=327.7+/-300.2;ESP6500_AA_GTC=1456,677,70;ESP6500_CDS_SIZES=NM_145047.4:1140;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=111;ESP6500_EA_AC=5566,3034;ESP6500_EA_AGE=466.6+/-366.8;ESP6500_EA_GTC=1806,1954,540;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145047.4:intron;ESP6500_GL=OSCP1;ESP6500_GRCh38_POSITION=1:36422101;ESP6500_GTC=3262,2631,610;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145047.4:c.819+49G>A;ESP6500_MAF=35.2791,18.5429,29.6094;ESP6500_TAC=9155,3851	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1448,123,0
chr1	36422701	rs35889349	C	CT	102.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.971;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.41;ReadPosRankSum=-0.713;SOR=0.76;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35889349;dbSNPBuildID=137;ANN=CT|intron_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|6/9|c.749+66dupA||||||	GT:AD:DP:GQ:PL	0/1:12,7:19:99:140,0,252
chr1	36423596	rs11263892	T	C	122.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11263892;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_206837.2|protein_coding||c.*4724A>G|||||4704|,C|intron_variant|MODIFIER|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|4/9|c.517-130A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=3482;p3_1000G_AF=0.695288;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=15507;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36889197;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:150,12,0
chr1	36432466	rs34409118	T	C	845.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.304;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18;ReadPosRankSum=0.423;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34409118;dbSNPBuildID=126;ANN=C|missense_variant|MODERATE|OSCP1|OSCP1|transcript|NM_145047.4|protein_coding|3/10|c.391A>G|p.Thr131Ala|507/1489|391/1140|131/379||,C|missense_variant|MODERATE|OSCP1|OSCP1|transcript|NM_206837.2|protein_coding|3/5|c.391A>G|p.Thr131Ala|507/808|391/672|131/223||;p3_1000G_AA=T|||;p3_1000G_AC=1042;p3_1000G_AF=0.208067;p3_1000G_AFR_AF=0.1604;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=21091;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.2048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36898067;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=794,3612;ESP6500_AA_AGE=317.4+/-295.1;ESP6500_AA_GTC=67,660,1476;ESP6500_CDS_SIZES=NM_206837.2:672,NM_145047.4:1140;ESP6500_CG=-1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=118;ESP6500_EA_AC=1836,6764;ESP6500_EA_AGE=329.8+/-318.9;ESP6500_EA_GTC=202,1432,2666;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206837.2:missense,NM_145047.4:missense;ESP6500_GL=OSCP1;ESP6500_GRCh38_POSITION=1:36432466;ESP6500_GS=58,58;ESP6500_GTC=269,2092,4142;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_206837.2:c.391A>G,NM_145047.4:c.391A>G;ESP6500_HGVS_PROTEIN_VAR=NM_206837.2:p.(T131A),NM_145047.4:p.(T131A);ESP6500_MAF=21.3488,18.0209,20.2214;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=2630,10376	GT:AD:DP:GQ:PL	0/1:14,33:47:99:874,0,287
chr1	36457893	rs12023818	G	C	1000.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.639;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.136;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12023818;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MRPS15|MRPS15|transcript|NM_031280.3|protein_coding|6/7|c.444+30C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1129;p3_1000G_AF=0.225439;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=20175;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.33;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36923494;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=708,3698;ESP6500_AA_AGE=296.1+/-284.1;ESP6500_AA_GTC=56,596,1551;ESP6500_CDS_SIZES=NM_031280.3:774;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=99;ESP6500_EA_AC=2887,5713;ESP6500_EA_AGE=453.2+/-363.2;ESP6500_EA_GTC=484,1919,1897;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031280.3:intron;ESP6500_GL=MRPS15;ESP6500_GRCh38_POSITION=1:36457893;ESP6500_GTC=540,2515,3448;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_031280.3:c.444+30C>G;ESP6500_MAF=33.5698,16.069,27.6411;ESP6500_TAC=3595,9411	GT:AD:DP:GQ:PL	0/1:33,46:79:99:1029,0,767
chr1	36462132	rs7065	G	A	1236.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.92;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs368818766,rs7065;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|MRPS15|MRPS15|transcript|NM_031280.3|protein_coding|3/8|c.207C>T|p.Pro69Pro|371/965|207/774|69/257||,A|downstream_gene_variant|MODIFIER|CSF3R|CSF3R|transcript|NM_156039.3|protein_coding||c.*4225C>T|||||3911|,A|downstream_gene_variant|MODIFIER|CSF3R|CSF3R|transcript|NM_000760.3|protein_coding||c.*4225C>T|||||3911|,A|downstream_gene_variant|MODIFIER|CSF3R|CSF3R|transcript|NM_172313.2|protein_coding||c.*3964C>T|||||3911|;p3_1000G_AA=A|||;p3_1000G_AC=4901;p3_1000G_AF=0.978634;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=19472;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36927733;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4333,73;ESP6500_AA_AGE=65.3+/-102.7;ESP6500_AA_GTC=2131,71,1;ESP6500_CDS_SIZES=NM_031280.3:774;ESP6500_CG=-0.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=114;ESP6500_EA_AC=7989,611;ESP6500_EA_AGE=160.5+/-213.6;ESP6500_EA_GTC=3704,581,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031280.3:coding-synonymous;ESP6500_GL=MRPS15;ESP6500_GRCh38_POSITION=1:36462132;ESP6500_GTC=5835,652,16;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031280.3:c.207C>T;ESP6500_HGVS_PROTEIN_VAR=NM_031280.3:p.(P69);ESP6500_MAF=7.1047,1.6568,5.2591;ESP6500_TAC=12322,684	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1265,120,0
chr1	36469202	rs777383194	G	A	874.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.135;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=3.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.813;SOR=1.075;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_156039.3|protein_coding|12/17|c.1530C>T|p.Asp510Asp|2114/3490|1530/2592|510/863||,A|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_000760.3|protein_coding|12/17|c.1530C>T|p.Asp510Asp|2114/3409|1530/2511|510/836||,A|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_172313.2|protein_coding|12/18|c.1530C>T|p.Asp510Asp|2114/2989|1530/2352|510/783||,A|upstream_gene_variant|MODIFIER|MRPS15|MRPS15|transcript|NM_031280.3|protein_coding||c.-4927C>T|||||4763|	GT:AD:DP:GQ:PL	0/1:25,37:62:99:903,0,702
chr1	36471458	rs3917981;256790	A	G	1386.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3917981;dbSNPBuildID=108;ANN=G|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_156039.3|protein_coding|10/17|c.1260T>C|p.Thr420Thr|1844/3490|1260/2592|420/863||,G|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_000760.3|protein_coding|10/17|c.1260T>C|p.Thr420Thr|1844/3409|1260/2511|420/836||,G|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_172313.2|protein_coding|10/18|c.1260T>C|p.Thr420Thr|1844/2989|1260/2352|420/783||,G|sequence_feature|LOW|CSF3R|CSF3R|antibody-mapping:heterologous_protein_expression_evidence|NM_156039.3|protein_coding|10/17|c.1260T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2967;p3_1000G_AF=0.592452;p3_1000G_AFR_AF=0.736;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=17801;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.5666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36937059;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3155,1251;ESP6500_AA_AGE=423.0+/-339.9;ESP6500_AA_GTC=1118,919,166;ESP6500_CDS_SIZES=NM_172313.2:2352,NM_156039.3:2592,NM_000760.3:2511;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=104;ESP6500_EA_AC=4760,3840;ESP6500_EA_AGE=530.9+/-381.9;ESP6500_EA_GTC=1311,2138,851;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172313.2:coding-synonymous,NM_156039.3:coding-synonymous,NM_000760.3:coding-synonymous;ESP6500_GL=CSF3R;ESP6500_GRCh38_POSITION=1:36471458;ESP6500_GTC=2429,3057,1017;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172313.2:c.1260T>C,NM_156039.3:c.1260T>C,NM_000760.3:c.1260T>C;ESP6500_HGVS_PROTEIN_VAR=NM_172313.2:p.(T420),NM_156039.3:p.(T420),NM_000760.3:p.(T420);ESP6500_MAF=44.6512,28.3931,39.1435;ESP6500_TAC=7915,5091;CLINVAR_ALLELEID=249885;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.36471458A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CSF3R:1441;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3917981	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,33:33:99:1|1:36471458_A_G:1415,99,0
chr1	36471464	rs3917980;256789	A	G	535.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.019;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.654;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=0.335;SOR=0.252;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3917980;dbSNPBuildID=108;ANN=G|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_156039.3|protein_coding|10/17|c.1254T>C|p.Arg418Arg|1838/3490|1254/2592|418/863||,G|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_000760.3|protein_coding|10/17|c.1254T>C|p.Arg418Arg|1838/3409|1254/2511|418/836||,G|synonymous_variant|LOW|CSF3R|CSF3R|transcript|NM_172313.2|protein_coding|10/18|c.1254T>C|p.Arg418Arg|1838/2989|1254/2352|418/783||;p3_1000G_AA=A|||;p3_1000G_AC=1234;p3_1000G_AF=0.246406;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=17736;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36937065;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4059;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=899,3507;ESP6500_AA_AGE=339.4+/-305.8;ESP6500_AA_GTC=92,715,1396;ESP6500_CDS_SIZES=NM_172313.2:2352,NM_156039.3:2592,NM_000760.3:2511;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=105;ESP6500_EA_AC=2999,5601;ESP6500_EA_AGE=455.9+/-363.9;ESP6500_EA_GTC=539,1921,1840;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172313.2:coding-synonymous,NM_156039.3:coding-synonymous,NM_000760.3:coding-synonymous;ESP6500_GL=CSF3R;ESP6500_GRCh38_POSITION=1:36471464;ESP6500_GTC=631,2636,3236;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172313.2:c.1254T>C,NM_156039.3:c.1254T>C,NM_000760.3:c.1254T>C;ESP6500_HGVS_PROTEIN_VAR=NM_172313.2:p.(R418),NM_156039.3:p.(R418),NM_000760.3:p.(R418);ESP6500_MAF=34.8721,20.404,29.9708;ESP6500_TAC=3898,9108;CLINVAR_AF_ESP=0.2997;CLINVAR_AF_EXAC=0.31561;CLINVAR_AF_TGP=0.2464;CLINVAR_ALLELEID=249886;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.36471464A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CSF3R:1441;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3917980	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,20:33:99:0|1:36471458_A_G:564,0,383
chr1	36471791	rs3917979	T	C	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=1.43;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3917979;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|CSF3R|CSF3R|transcript|NM_156039.3|protein_coding|9/16|c.1072-145A>G||||||,C|intron_variant|MODIFIER|CSF3R|CSF3R|transcript|NM_000760.3|protein_coding|9/16|c.1072-145A>G||||||,C|intron_variant|MODIFIER|CSF3R|CSF3R|transcript|NM_172313.2|protein_coding|9/17|c.1072-145A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1306;p3_1000G_AF=0.260783;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=17666;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36937392;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:91:221,0,91
chr1	36869857	rs577094	A	G	1457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=1.662;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs577094;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|GRIK3|GRIK3|transcript|NM_000831.3|protein_coding|4/15|c.733-56T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4595;p3_1000G_AF=0.917532;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=17783;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.9254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37335458;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9499;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1115,269;ESP6500_AA_GTC=446,223,23;ESP6500_CDS_SIZES=NM_000831.3:2760;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=61;ESP6500_EA_AC=2911,271;ESP6500_EA_GTC=1330,251,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000831.3:intron;ESP6500_GL=GRIK3;ESP6500_GRCh38_POSITION=1:36869857;ESP6500_GTC=1776,474,33;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000831.3:c.733-56T>C;ESP6500_MAF=8.5167,19.4364,11.8265;ESP6500_TAC=4026,540	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1486,132,0
chr1	36869884	rs509284	A	G	1465.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs509284;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|GRIK3|GRIK3|transcript|NM_000831.3|protein_coding|4/15|c.733-83T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4595;p3_1000G_AF=0.917532;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=17711;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.9254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37335485;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,34:34:99:1|1:36869884_A_G:1494,102,0
chr1	36869893	rs577813	G	T	1465.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.46;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs577813;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|GRIK3|GRIK3|transcript|NM_000831.3|protein_coding|4/15|c.733-92C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4595;p3_1000G_AF=0.917532;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=17500;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.9254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37335494;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,33:33:99:1|1:36869884_A_G:1494,102,0
chr1	37493849	rs215210	T	C	924.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=1.143;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs215210;dbSNPBuildID=79;ANN=C|3_prime_UTR_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_022756.5|protein_coding|8/8|c.*250A>G|||||250|,C|3_prime_UTR_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_001270875.1|protein_coding|7/7|c.*250A>G|||||250|,C|intron_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_001270876.1|protein_coding|5/5|c.534-35A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073090.1|pseudogene|9/9|n.987A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073091.1|pseudogene|8/8|n.957A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073092.1|pseudogene|9/9|n.1018A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3658;p3_1000G_AF=0.730431;p3_1000G_AFR_AF=0.4864;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=19205;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37959450;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:953,90,0
chr1	37493869	rs215211	C	G	832.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs215211;dbSNPBuildID=79;ANN=G|3_prime_UTR_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_022756.5|protein_coding|8/8|c.*230G>C|||||230|,G|3_prime_UTR_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_001270875.1|protein_coding|7/7|c.*230G>C|||||230|,G|intron_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_001270876.1|protein_coding|5/5|c.534-55G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073090.1|pseudogene|9/9|n.967G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073091.1|pseudogene|8/8|n.937G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073092.1|pseudogene|9/9|n.998G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3747;p3_1000G_AF=0.748203;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=18915;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37959470;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:861,78,0
chr1	37493898	rs215212	G	C	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.814;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs215212;dbSNPBuildID=79;ANN=C|3_prime_UTR_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_022756.5|protein_coding|8/8|c.*201C>G|||||201|,C|3_prime_UTR_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_001270875.1|protein_coding|7/7|c.*201C>G|||||201|,C|intron_variant|MODIFIER|MEAF6|MEAF6|transcript|NM_001270876.1|protein_coding|5/5|c.534-84C>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073090.1|pseudogene|9/9|n.938C>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073091.1|pseudogene|8/8|n.908C>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MEAF6|MEAF6|transcript|NR_073092.1|pseudogene|9/9|n.969C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=933;p3_1000G_AF=0.186302;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=19141;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37959499;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,9:21:99:291,0,373
chr1	37540758	rs2174769	A	G	1517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2174769;dbSNPBuildID=96;ANN=G|splice_region_variant&intron_variant|LOW|SNIP1|SNIP1|transcript|NM_024700.3|protein_coding|2/3|c.328-3T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3616;p3_1000G_AF=0.722045;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=19253;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.834;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38006359;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2140,2266;ESP6500_AA_AGE=589.1+/-387.1;ESP6500_AA_GTC=528,1084,591;ESP6500_CDS_SIZES=NM_024700.3:1191;ESP6500_CG=0.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=65;ESP6500_EA_AC=7274,1326;ESP6500_EA_AGE=258.8+/-282.3;ESP6500_EA_GTC=3077,1120,103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024700.3:intron;ESP6500_GL=SNIP1;ESP6500_GRCh38_POSITION=1:37540758;ESP6500_GTC=3605,2204,694;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024700.3:c.328-3T>C;ESP6500_MAF=15.4186,48.5701,27.618;ESP6500_TAC=9414,3592	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1546,129,0
chr1	37556851	rs2273014	C	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.241;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=9.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.004;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273014;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|SNIP1|SNIP1|transcript|NM_024700.3|protein_coding||c.-2622G>T|||||2507|,A|upstream_gene_variant|MODIFIER|DNALI1|DNALI1|transcript|NM_003462.3|protein_coding||c.-78C>A|||||68|,A|intergenic_region|MODIFIER|SNIP1-DNALI1|SNIP1-DNALI1|intergenic_region|SNIP1-DNALI1|||n.37556851C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2006;p3_1000G_AF=0.400559;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=16776;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.4682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38022452;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,14:23:99:337,0,282
chr1	37557715	rs11749	C	T	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.284;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=-1.092;SOR=0.655;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11749;dbSNPBuildID=102;ANN=T|missense_variant|MODERATE|DNALI1|DNALI1|transcript|NM_003462.3|protein_coding|2/6|c.260C>T|p.Ala87Val|270/2649|260/843|87/280||,T|upstream_gene_variant|MODIFIER|SNIP1|SNIP1|transcript|NM_024700.3|protein_coding||c.-3486G>A|||||3371|;p3_1000G_AA=C|||;p3_1000G_AC=1023;p3_1000G_AF=0.204273;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=20615;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38023316;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1871;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=427,3979;ESP6500_AA_AGE=208.8+/-229.8;ESP6500_AA_GTC=19,389,1795;ESP6500_CDS_SIZES=NM_003462.3:843;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=172;ESP6500_EA_AC=2211,6389;ESP6500_EA_AGE=376.5+/-338.2;ESP6500_EA_GTC=297,1617,2386;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003462.3:missense;ESP6500_GL=DNALI1;ESP6500_GRCh38_POSITION=1:37557715;ESP6500_GS=64;ESP6500_GTC=316,2006,4181;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003462.3:c.260C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003462.3:p.(A87V);ESP6500_MAF=25.7093,9.6913,20.2829;ESP6500_PH=possibly-damaging:0.749;ESP6500_TAC=2638,10368	GT:AD:DP:GQ:PL	0/1:27,15:42:99:328,0,776
chr1	37565095	rs6619	T	C	740.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.58;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.764;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6619;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|DNALI1|DNALI1|transcript|NM_003462.3|protein_coding|6/6|c.*34T>C|||||34|,C|downstream_gene_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323623.1|protein_coding||c.*1760A>G|||||1717|,C|downstream_gene_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323624.1|protein_coding||c.*1760A>G|||||1717|,C|downstream_gene_variant|MODIFIER|GNL2|GNL2|transcript|NM_013285.2|protein_coding||c.*1760A>G|||||1717|;p3_1000G_AA=T|||;p3_1000G_AC=2058;p3_1000G_AF=0.410942;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=19757;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.4692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38030696;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1102,3304;ESP6500_AA_AGE=394.0+/-329.1;ESP6500_AA_GTC=135,832,1236;ESP6500_CDS_SIZES=NM_003462.3:843;ESP6500_CG=0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=81;ESP6500_EA_AC=3782,4818;ESP6500_EA_AGE=533.6+/-382.4;ESP6500_EA_GTC=881,2020,1399;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003462.3:utr-3;ESP6500_GL=DNALI1;ESP6500_GRCh38_POSITION=1:37565095;ESP6500_GTC=1016,2852,2635;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003462.3:c.*34T>C;ESP6500_MAF=43.9767,25.0113,37.5519;ESP6500_TAC=4884,8122	GT:AD:DP:GQ:PL	0/1:37,26:63:99:769,0,936
chr1	37581319	rs2360010	G	T	407.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2360010;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323623.1|protein_coding|9/16|c.1113+23C>A||||||,T|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323624.1|protein_coding|7/14|c.360+904C>A||||||,T|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_013285.2|protein_coding|8/15|c.909+904C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3653;p3_1000G_AF=0.729433;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=19464;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38046920;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:436,39,0
chr1	37583772	rs3753372	C	T	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.651;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.853;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3753372;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323623.1|protein_coding|6/16|c.636+95G>A||||||,T|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323624.1|protein_coding|5/14|c.87+95G>A||||||,T|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_013285.2|protein_coding|6/15|c.636+95G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2059;p3_1000G_AF=0.411142;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=18426;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.4692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38049373;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:296,0,213
chr1	37583951	rs6426024	C	G	565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426024;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323623.1|protein_coding|5/16|c.570-18G>C||||||,G|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323624.1|protein_coding|4/14|c.21-18G>C||||||,G|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_013285.2|protein_coding|5/15|c.570-18G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3660;p3_1000G_AF=0.730831;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=17421;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.834;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38049552;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6728;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2258,2148;ESP6500_AA_AGE=591.8+/-387.6;ESP6500_AA_GTC=588,1082,533;ESP6500_CDS_SIZES=NM_013285.2:2196;ESP6500_CG=0.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=99;ESP6500_EA_AC=7263,1337;ESP6500_EA_AGE=754.1+/-407.5;ESP6500_EA_GTC=3071,1121,108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013285.2:intron;ESP6500_GL=GNL2;ESP6500_GRCh38_POSITION=1:37583951;ESP6500_GTC=3659,2203,641;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_013285.2:c.570-18G>C;ESP6500_MAF=15.5465,48.7517,26.7953;ESP6500_TAC=9521,3485	GT:AD:DP:GQ:PL	1/1:0,18:18:54:594,54,0
chr1	37587266	rs11420067	C	CA	65.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.142;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=0.309;SOR=0.055;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11420067;dbSNPBuildID=137;ANN=CA|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323623.1|protein_coding|5/16|c.569+44dupT||||||,CA|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323624.1|protein_coding|4/14|c.21-3334dupT||||||,CA|intron_variant|MODIFIER|GNL2|GNL2|transcript|NM_013285.2|protein_coding|5/15|c.569+44dupT||||||	GT:AD:DP:GQ:PL	0/1:6,6:12:99:103,0,122
chr1	37595971	rs6697632	G	T	255.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6697632;dbSNPBuildID=116;ANN=T|5_prime_UTR_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323623.1|protein_coding|1/17|c.-149C>A|||||149|,T|5_prime_UTR_variant|MODIFIER|GNL2|GNL2|transcript|NM_001323624.1|protein_coding|1/15|c.-513C>A|||||5246|,T|5_prime_UTR_variant|MODIFIER|GNL2|GNL2|transcript|NM_013285.2|protein_coding|1/16|c.-149C>A|||||149|;p3_1000G_AA=T|||;p3_1000G_AC=3785;p3_1000G_AF=0.755791;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=15918;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38061572;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:284,24,0
chr1	37612958	rs55852308	A	T	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.96;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=6.56;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=0.66;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55852308;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001038633.3|protein_coding|7/7|c.626-37T>A||||||,T|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242908.1|protein_coding|6/6|c.626-37T>A||||||,T|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242909.1|protein_coding|6/6|c.545-37T>A||||||,T|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242910.1|protein_coding|5/5|c.437-37T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=967;p3_1000G_AF=0.193091;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=20910;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.2545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38078630;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=353,3591;ESP6500_AA_GTC=16,321,1635;ESP6500_CDS_SIZES=NM_001242910.1:603,NM_001242909.1:711,NM_001242908.1:792,NM_001038633.3:792;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=32;ESP6500_EA_AC=2151,6125;ESP6500_EA_GTC=284,1583,2271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001242910.1:intron,NM_001242909.1:intron,NM_001242908.1:intron,NM_001038633.3:intron;ESP6500_GL=RSPO1;ESP6500_GRCh38_POSITION=1:37612958;ESP6500_GTC=300,1904,3906;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001242910.1:c.437-37T>A,NM_001242909.1:c.545-37T>A,NM_001242908.1:c.626-37T>A,NM_001038633.3:c.626-37T>A;ESP6500_MAF=25.9908,8.9503,20.491;ESP6500_TAC=2504,9716	GT:AD:DP:GQ:PL	0/1:10,4:14:99:124,0,288
chr1	37616450	rs12039431	G	A	664.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.462;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.7;ReadPosRankSum=-1.337;SOR=0.199;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12039431;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001038633.3|protein_coding|5/7|c.286+34C>T||||||,A|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242908.1|protein_coding|4/6|c.286+34C>T||||||,A|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242909.1|protein_coding|4/6|c.205+34C>T||||||,A|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242910.1|protein_coding|4/5|c.286+34C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=964;p3_1000G_AF=0.192492;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=17955;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38082122;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=327,3569;ESP6500_AA_GTC=16,295,1637;ESP6500_CDS_SIZES=NM_001242910.1:603,NM_001242909.1:711,NM_001242908.1:792,NM_001038633.3:792;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=25;ESP6500_EA_AC=2038,6238;ESP6500_EA_GTC=281,1476,2381;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001242910.1:intron,NM_001242909.1:intron,NM_001242908.1:intron,NM_001038633.3:intron;ESP6500_GL=RSPO1;ESP6500_GRCh38_POSITION=1:37616450;ESP6500_GTC=297,1771,4018;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001242910.1:c.286+34C>T,NM_001242909.1:c.205+34C>T,NM_001242908.1:c.286+34C>T,NM_001038633.3:c.286+34C>T;ESP6500_MAF=24.6254,8.3932,19.4298;ESP6500_TAC=2365,9807	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,17:24:99:0|1:37616450_G_A:693,0,418
chr1	37616451	rs12046650	C	T	664.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.8;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.7;ReadPosRankSum=-0.669;SOR=0.199;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12046650;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001038633.3|protein_coding|5/7|c.286+33G>A||||||,T|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242908.1|protein_coding|4/6|c.286+33G>A||||||,T|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242909.1|protein_coding|4/6|c.205+33G>A||||||,T|intron_variant|MODIFIER|RSPO1|RSPO1|transcript|NM_001242910.1|protein_coding|4/5|c.286+33G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=964;p3_1000G_AF=0.192492;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=18007;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38082123;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=321,3571;ESP6500_AA_GTC=16,289,1641;ESP6500_CDS_SIZES=NM_001242910.1:603,NM_001242909.1:711,NM_001242908.1:792,NM_001038633.3:792;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=25;ESP6500_EA_AC=1997,6277;ESP6500_EA_GTC=278,1441,2418;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001242910.1:intron,NM_001242909.1:intron,NM_001242908.1:intron,NM_001038633.3:intron;ESP6500_GL=RSPO1;ESP6500_GRCh38_POSITION=1:37616451;ESP6500_GTC=294,1730,4059;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001242910.1:c.286+33G>A,NM_001242909.1:c.205+33G>A,NM_001242908.1:c.286+33G>A,NM_001038633.3:c.286+33G>A;ESP6500_MAF=24.1358,8.2477,19.0531;ESP6500_TAC=2318,9848	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,17:24:99:0|1:37616450_G_A:693,0,418
chr1	37683093	rs684260	A	G	1230.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs684260;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|C1orf109|C1orf109|transcript|NM_001303031.1|protein_coding|5/5|c.*30T>C|||||30|,G|3_prime_UTR_variant|MODIFIER|C1orf109|C1orf109|transcript|NM_001303030.1|protein_coding|5/5|c.*30T>C|||||30|,G|3_prime_UTR_variant|MODIFIER|C1orf109|C1orf109|transcript|NM_017850.2|protein_coding|5/5|c.*30T>C|||||30|;p3_1000G_AA=G|||;p3_1000G_AC=4149;p3_1000G_AF=0.828474;p3_1000G_AFR_AF=0.8343;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=23809;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.7654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38148765;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3597,809;ESP6500_AA_AGE=324.2+/-298.5;ESP6500_AA_GTC=1461,675,67;ESP6500_CDS_SIZES=NM_017850.1:612;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=81;ESP6500_EA_AC=6407,2193;ESP6500_EA_AGE=373.1+/-336.9;ESP6500_EA_GTC=2355,1697,248;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017850.1:utr-3;ESP6500_GL=C1orf109;ESP6500_GRCh38_POSITION=1:37683093;ESP6500_GTC=3816,2372,315;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017850.1:c.*30T>C;ESP6500_MAF=25.5,18.3613,23.0817;ESP6500_TAC=10004,3002	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1259,111,0
chr1	37715831	rs7512242	C	T	191.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7512242;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|EPHA10|EPHA10|transcript|NM_001099439.1|protein_coding||c.*2541G>A|||||143|,T|intergenic_region|MODIFIER|CDCA8-EPHA10|CDCA8-EPHA10|intergenic_region|CDCA8-EPHA10|||n.37715831C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1125;p3_1000G_AF=0.224641;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=19227;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.2893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38181503;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=306,1446;ESP6500_AA_GTC=26,254,596;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=64;ESP6500_EA_AC=1014,2968;ESP6500_EA_GTC=126,762,1103;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:37715831;ESP6500_GTC=152,1016,1699;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=25.4646,17.4658,23.0206;ESP6500_TAC=1320,4414	GT:AD:DP:GQ:PL	1/1:0,6:6:18:220,18,0
chr1	37715877	rs80009012	C	T	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.188;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=-1.139;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80009012;dbSNPBuildID=131;ANN=T|downstream_gene_variant|MODIFIER|EPHA10|EPHA10|transcript|NM_001099439.1|protein_coding||c.*2495G>A|||||97|,T|intergenic_region|MODIFIER|CDCA8-EPHA10|CDCA8-EPHA10|intergenic_region|CDCA8-EPHA10|||n.37715877C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=88;p3_1000G_AF=0.0175719;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=18037;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38181549;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=88,1664;ESP6500_AA_GTC=1,86,789;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=80;ESP6500_EA_AC=2,3980;ESP6500_EA_GTC=0,2,1989;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:37715877;ESP6500_GTC=1,88,2778;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=0.0502,5.0228,1.5696;ESP6500_TAC=90,5644	GT:AD:DP:GQ:PL	0/1:4,8:12:82:235,0,82
chr1	37722216	rs114572315	T	C	418.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=-0.037;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs114572315;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|EPHA10|EPHA10|transcript|NM_001099439.1|protein_coding|10/16|c.1961-371A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=336;p3_1000G_AF=0.0670927;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=21388;p3_1000G_EAS_AF=0.0575;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38187888;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:42,20:62:99:447,0,1064
chr1	37731504	rs182568246	G	A	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.033;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.4;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs182568246;dbSNPBuildID=135;ANN=A|missense_variant|MODERATE|EPHA10|EPHA10|transcript|NM_001099439.1|protein_coding|7/17|c.1570C>T|p.Arg524Cys|1656/5511|1570/3027|524/1008||;p3_1000G_AA=G|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15976;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38197176;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,18:36:99:505,0,482
chr1	37806988	rs2291297	G	A	1693.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.8;SOR=0.729;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291297;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|C1orf122|C1orf122|transcript|NM_198446.2|protein_coding||c.-1417G>A|||||813|,A|upstream_gene_variant|MODIFIER|C1orf122|C1orf122|transcript|NM_001142726.1|protein_coding||c.-1697G>A|||||813|,A|downstream_gene_variant|MODIFIER|MTF1|MTF1|transcript|NM_005955.2|protein_coding||c.*8148C>T|||||2579|,A|intron_variant|MODIFIER|YRDC|YRDC|transcript|NM_024640.3|protein_coding|2/4|c.505-12C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1025;p3_1000G_AF=0.204673;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=20545;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.2783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38272660;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=368,4038;ESP6500_AA_AGE=186.7+/-213.5;ESP6500_AA_GTC=14,340,1849;ESP6500_CDS_SIZES=NM_024640.3:840;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=71;ESP6500_EA_AC=2469,6131;ESP6500_EA_AGE=404.5+/-348.2;ESP6500_EA_GTC=337,1795,2168;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024640.3:intron;ESP6500_GL=YRDC;ESP6500_GRCh38_POSITION=1:37806988;ESP6500_GTC=351,2135,4017;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024640.3:c.505-12C>T;ESP6500_MAF=28.7093,8.3522,21.813;ESP6500_TAC=2837,10169	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1722,165,0
chr1	37823711	rs12751325	T	C	941.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.38;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12751325;dbSNPBuildID=121;ANN=C|splice_region_variant&synonymous_variant|LOW|MTF1|MTF1|transcript|NM_005955.2|protein_coding|8/11|c.1170A>G|p.Thr390Thr|1311/7972|1170/2262|390/753||;p3_1000G_AA=T|||;p3_1000G_AC=1059;p3_1000G_AF=0.211462;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=17900;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.2843;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38289383;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=461,3945;ESP6500_AA_AGE=217.1+/-235.6;ESP6500_AA_GTC=25,411,1767;ESP6500_CDS_SIZES=NM_005955.2:2262;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=134;ESP6500_EA_AC=2492,6108;ESP6500_EA_AGE=407.0+/-349.0;ESP6500_EA_GTC=342,1808,2150;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005955.2:coding-synonymous-near-splice;ESP6500_GL=MTF1;ESP6500_GRCh38_POSITION=1:37823711;ESP6500_GTC=367,2219,3917;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005955.2:c.1170A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005955.2:p.(T390);ESP6500_MAF=28.9767,10.463,22.7049;ESP6500_TAC=2953,10053	GT:AD:DP:GQ:PL	1/1:0,31:31:93:970,93,0
chr1	37835578	rs3912368	A	G	759.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.53;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3912368;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|MTF1|MTF1|transcript|NM_005955.2|protein_coding|5/10|c.853+93T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2624;p3_1000G_AF=0.523962;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=16505;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.7266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38301250;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:788,66,0
chr1	37835804	rs3762359	G	A	702.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3762359;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|MTF1|MTF1|transcript|NM_005955.2|protein_coding|4/10|c.780-60C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2620;p3_1000G_AF=0.523163;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=16933;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38301476;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=507,877;ESP6500_AA_GTC=88,331,273;ESP6500_CDS_SIZES=NM_005955.2:2262;ESP6500_CG=2.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=55;ESP6500_EA_AC=2238,944;ESP6500_EA_GTC=785,668,138;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005955.2:intron;ESP6500_GL=MTF1;ESP6500_GRCh38_POSITION=1:37835804;ESP6500_GTC=873,999,411;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005955.2:c.780-60C>T;ESP6500_MAF=29.6669,36.6329,39.8817;ESP6500_TAC=2745,1821	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:37835804_G_A:731,66,0
chr1	37862310	rs3843	G	T	563.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3843;dbSNPBuildID=36;ANN=T|3_prime_UTR_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|24/24|c.*5C>A|||||5|,T|3_prime_UTR_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|18/18|c.*5C>A|||||5|,T|upstream_gene_variant|MODIFIER|MTF1|MTF1|transcript|NM_005955.2|protein_coding||c.-4652C>A|||||2690|;p3_1000G_AA=T|||;p3_1000G_AC=2632;p3_1000G_AF=0.525559;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=16780;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.7266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38327982;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1436,2300;ESP6500_AA_GTC=269,898,701;ESP6500_CDS_SIZES=NM_005540.2:2742;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=86;ESP6500_EA_AC=5771,2431;ESP6500_EA_GTC=2008,1755,338;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005540.2:utr-3;ESP6500_GL=INPP5B;ESP6500_GRCh38_POSITION=1:37862310;ESP6500_GTC=2277,2653,1039;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005540.2:c.*5C>A;ESP6500_MAF=29.6391,38.4368,39.6298;ESP6500_TAC=7207,4731	GT:AD:DP:GQ:PL	1/1:0,21:21:63:592,63,0
chr1	37866385	rs372024625	T	TTC	40.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.498;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.39;ReadPosRankSum=0.547;SOR=0.412;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=TTC|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|21/23|c.2386+72_2386+73dupGA||||||,TTC|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|15/17|c.1894+72_1894+73dupGA||||||	GT:AD:DP:GQ:PL	0/1:7,5:12:78:78,0,191
chr1	37866406	rs57582108;rs748938943	T	TCA	60.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.185;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=1.1;SOR=0.765;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57582108;dbSNPBuildID=144,129;ANN=TCA|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|21/23|c.2386+51_2386+52dupTG||||||,TCA|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|15/17|c.1894+51_1894+52dupTG||||||	GT:AD:DP:GQ:PL	0/1:10,3:13:98:98,0,254
chr1	37873123	rs11488569	A	G	1234.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11488569;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|19/24|c.1994T>C|p.Met665Thr|2088/4454|1994/2742|665/913||,G|missense_variant|MODERATE|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|13/18|c.1502T>C|p.Met501Thr|1581/3947|1502/2250|501/749||;p3_1000G_AA=G|||;p3_1000G_AC=2622;p3_1000G_AF=0.523562;p3_1000G_AFR_AF=0.298;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=19866;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.7266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38338795;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1395,2291;ESP6500_AA_GTC=262,871,710;ESP6500_CDS_SIZES=NM_005540.2:2742;ESP6500_CG=2.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=155;ESP6500_EA_AC=5766,2428;ESP6500_EA_GTC=2006,1754,337;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005540.2:missense;ESP6500_GL=INPP5B;ESP6500_GRCh38_POSITION=1:37873123;ESP6500_GS=81;ESP6500_GTC=2268,2625,1047;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005540.2:c.1994T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005540.2:p.(M665T);ESP6500_MAF=29.6314,37.8459,39.7222;ESP6500_PH=benign:0.0;ESP6500_TAC=7161,4719	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1263,117,0
chr1	37880224	rs2306427	A	C	241.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2306427;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|14/23|c.1432-30T>G||||||,C|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|8/17|c.940-30T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2619;p3_1000G_AF=0.522963;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=14973;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38345896;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1345,2257;ESP6500_AA_GTC=249,847,705;ESP6500_CDS_SIZES=NM_005540.2:2742;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=46;ESP6500_EA_AC=5721,2427;ESP6500_EA_GTC=1983,1755,336;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005540.2:intron;ESP6500_GL=INPP5B;ESP6500_GRCh38_POSITION=1:37880224;ESP6500_GTC=2232,2602,1041;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005540.2:c.1432-30T>G;ESP6500_MAF=29.7865,37.3404,39.8638;ESP6500_TAC=7066,4684	GT:AD:DP:GQ:PL	1/1:0,8:8:24:270,24,0
chr1	37891227	rs71656437	C	CA	72.06	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.391;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=0.524;SOR=0.818;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71656437,rs68031410;dbSNPBuildID=137;ANN=CA|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|8/23|c.629+130dupT||||||,CA|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|2/17|c.137+130dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2271;p3_1000G_AF=0.453474;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=19264;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.5954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38356899;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,6:9:69:98,0,69
chr1	37931659	rs766199659	G	T	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.412;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=0.374;SOR=0.559;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|7/23|c.532+254C>A||||||,T|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|1/17|c.40+14C>A||||||	GT:AD:DP:GQ:PL	0/1:21,15:36:99:334,0,532
chr1	37931669	rs34655914	G	A	1361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34655914;dbSNPBuildID=126;ANN=A|splice_region_variant&intron_variant|LOW|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|1/17|c.40+4C>T||||||,A|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|7/23|c.532+244C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1778;p3_1000G_AF=0.355032;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=8867;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38397341;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1390,120,0
chr1	37931697	rs35267671	C	T	1511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=0.733;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35267671;dbSNPBuildID=126;ANN=T|missense_variant|MODERATE|INPP5B|INPP5B|transcript|NM_001297434.1|protein_coding|1/18|c.16G>A|p.Gly6Ser|95/3947|16/2250|6/749||,T|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|7/23|c.532+216G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1779;p3_1000G_AF=0.355232;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=9410;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38397369;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1540,147,0
chr1	37945678	rs11485595	C	T	1623.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11485595;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|3/23|c.152+78G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1405;p3_1000G_AF=0.280551;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=20186;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38411350;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1652,162,0
chr1	37945773	rs871524	G	A	775.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.551;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.936;SOR=0.775;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs871524;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|INPP5B|INPP5B|transcript|NM_005540.2|protein_coding|3/24|c.135C>T|p.His45His|229/4454|135/2742|45/913||;p3_1000G_AA=G|||;p3_1000G_AC=1011;p3_1000G_AF=0.201877;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=15761;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38411445;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=351,3805;ESP6500_AA_GTC=17,317,1744;ESP6500_CDS_SIZES=NM_005540.2:2742;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=62;ESP6500_EA_AC=2590,5800;ESP6500_EA_GTC=388,1814,1993;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005540.2:coding-synonymous;ESP6500_GL=INPP5B;ESP6500_GRCh38_POSITION=1:37945773;ESP6500_GTC=405,2131,3737;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005540.2:c.135C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005540.2:p.(H45);ESP6500_MAF=30.8701,8.4456,23.4417;ESP6500_TAC=2941,9605	GT:AD:DP:GQ:PL	0/1:46,35:81:99:804,0,1102
chr1	37958181	rs9293	G	C	984.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9293;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|17/17|c.*5C>G|||||5|,C|3_prime_UTR_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|15/15|c.*5C>G|||||5|;p3_1000G_AA=G|||;p3_1000G_AC=4618;p3_1000G_AF=0.922125;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=20366;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8479;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38423853;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4247,159;ESP6500_AA_AGE=811.4+/-416.1;ESP6500_AA_GTC=2047,153,3;ESP6500_CDS_SIZES=NM_006802.2:1506;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=152;ESP6500_EA_AC=7417,1183;ESP6500_EA_AGE=764.2+/-407.6;ESP6500_EA_GTC=3186,1045,69;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006802.2:utr-3;ESP6500_GL=SF3A3;ESP6500_GRCh38_POSITION=1:37958181;ESP6500_GTC=5233,1198,72;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_006802.2:c.*5C>G;ESP6500_MAF=13.7558,3.6087,10.3183;ESP6500_TAC=11664,1342	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1013,84,0
chr1	37959957	rs759061440;rs879007861	CAAA	C	134.25	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=-1.068;SOR=1.609;DEL;HET;VARTYPE=DEL;dbSNPBuildID=147,144;ANN=C|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|16/16|c.1428+160_1428+162delTTT||||||,C|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|14/14|c.1269+160_1269+162delTTT||||||	GT:AD:DP:GQ:PL	0/1:2,5:7:9:171,0,9
chr1	37960052	rs17531342	T	C	1282.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=2.073;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17531342;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|16/16|c.1428+68A>G||||||,C|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|14/14|c.1269+68A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4622;p3_1000G_AF=0.922923;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=20221;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38425724;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8569;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1331,53;ESP6500_AA_GTC=641,49,2;ESP6500_CDS_SIZES=NM_006802.2:1506;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=106;ESP6500_EA_AC=2749,433;ESP6500_EA_GTC=1192,365,34;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006802.2:intron;ESP6500_GL=SF3A3;ESP6500_GRCh38_POSITION=1:37960052;ESP6500_GTC=1833,414,36;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006802.2:c.1428+68A>G;ESP6500_MAF=13.6078,3.8295,10.6439;ESP6500_TAC=4080,486	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1311,114,0
chr1	37960223	rs28675056	T	C	1324.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28675056;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|15/16|c.1373-48A>G||||||,C|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|13/14|c.1214-48A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4622;p3_1000G_AF=0.922923;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=17198;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38425895;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8569;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4246,160;ESP6500_AA_AGE=108.6+/-147.0;ESP6500_AA_GTC=2046,154,3;ESP6500_CDS_SIZES=NM_006802.2:1506;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=91;ESP6500_EA_AC=7416,1184;ESP6500_EA_AGE=238.8+/-270.1;ESP6500_EA_GTC=3185,1046,69;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006802.2:intron;ESP6500_GL=SF3A3;ESP6500_GRCh38_POSITION=1:37960223;ESP6500_GTC=5231,1200,72;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006802.2:c.1373-48A>G;ESP6500_MAF=13.7674,3.6314,10.3337;ESP6500_TAC=11662,1344	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1353,137,0
chr1	37969247	rs4653342	C	T	1155.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4653342;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|14/16|c.1281+107G>A||||||,T|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|12/14|c.1122+107G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4613;p3_1000G_AF=0.921126;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=18812;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38434919;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1184,105,0
chr1	37976875	rs10890216	G	A	1755.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=1.118;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10890216;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|12/16|c.1005+9C>T||||||,A|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|10/14|c.846+9C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=21057;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38442547;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4224,180;ESP6500_AA_AGE=808.3+/-415.9;ESP6500_AA_GTC=2027,170,5;ESP6500_CDS_SIZES=NM_006802.2:1506;ESP6500_CG=1.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=123;ESP6500_EA_AC=7417,1183;ESP6500_EA_AGE=763.6+/-407.6;ESP6500_EA_GTC=3186,1045,69;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006802.2:intron;ESP6500_GL=SF3A3;ESP6500_GRCh38_POSITION=1:37976875;ESP6500_GTC=5213,1215,74;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006802.2:c.1005+9C>T;ESP6500_MAF=13.7558,4.0872,10.4814;ESP6500_TAC=11641,1363	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1784,162,0
chr1	37978661	rs6660034	A	G	100.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6660034;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|11/16|c.935+59T>C||||||,G|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|9/14|c.776+59T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=17906;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38444333;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:128,9,0
chr1	37981562	rs7519426	T	G	439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7519426;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|7/16|c.551+167A>C||||||,G|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|5/14|c.392+167A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=18826;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38447234;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:468,36,0
chr1	37981594	rs7512424	C	T	420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.49;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7512424;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|7/16|c.551+135G>A||||||,T|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|5/14|c.392+135G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=19891;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38447266;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:449,36,0
chr1	37981943	rs7533079	G	T	389.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7533079;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|6/16|c.469-132C>A||||||,T|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|4/14|c.310-132C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4535;p3_1000G_AF=0.905551;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DP=19785;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38447615;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:418,33,0
chr1	37984695	rs6680796	A	G	694.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6680796;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|5/16|c.376+12T>C||||||,G|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|3/14|c.217+12T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=4624;p3_1000G_AF=0.923323;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=19749;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38450367;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8579;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4246,160;ESP6500_AA_AGE=811.7+/-416.1;ESP6500_AA_GTC=2046,154,3;ESP6500_CDS_SIZES=NM_006802.2:1506;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=121;ESP6500_EA_AC=7419,1181;ESP6500_EA_AGE=764.5+/-407.6;ESP6500_EA_GTC=3188,1043,69;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006802.2:intron;ESP6500_GL=SF3A3;ESP6500_GRCh38_POSITION=1:37984695;ESP6500_GTC=5234,1197,72;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006802.2:c.376+12T>C;ESP6500_MAF=13.7326,3.6314,10.3106;ESP6500_TAC=11665,1341	GT:AD:DP:GQ:PL	1/1:0,22:22:66:723,66,0
chr1	37989717	rs3935867	C	T	791.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3935867;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_006802.3|protein_coding|1/16|c.97-122G>A||||||,T|intron_variant|MODIFIER|SF3A3|SF3A3|transcript|NM_001320830.1|protein_coding|1/14|c.97-122G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=4529;p3_1000G_AF=0.904353;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=17359;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8479;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38455389;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:820,69,0
chr1	37998967	rs4570384	C	G	1687.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=2.208;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4570384;dbSNPBuildID=111;ANN=G|splice_region_variant&intron_variant|LOW|FHL3|FHL3|transcript|NM_004468.4|protein_coding|3/5|c.331+7G>C||||||,G|splice_region_variant&intron_variant|LOW|FHL3|FHL3|transcript|NM_001243878.1|protein_coding|2/4|c.7+7G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4998;p3_1000G_AF=0.998003;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=22632;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38464639;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4383,23;ESP6500_AA_AGE=29.9+/-59.1;ESP6500_AA_GTC=2180,23,0;ESP6500_CDS_SIZES=NM_004468.4:843,NM_001243878.1:519;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=52;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004468.4:intron,NM_001243878.1:intron;ESP6500_GL=FHL3;ESP6500_GRCh38_POSITION=1:37998967;ESP6500_GTC=6480,23,0;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004468.4:c.331+7G>C,NM_001243878.1:c.7+7G>C;ESP6500_MAF=0.0,0.522,0.1768;ESP6500_TAC=12983,23	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1716,144,0
chr1	38017624	rs397722276;rs565660407;rs61711547	A	ATT	13.91	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=-1.282;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs373891204,rs375836533,rs376930983,rs61711547;dbSNPBuildID=142,137,138;ANN=ATT|intron_variant|MODIFIER|UTP11|UTP11|transcript|NM_016037.3|protein_coding|2/7|c.126-32_126-31dupTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2339;p3_1000G_AF=0.467053;p3_1000G_AFR_AF=0.5045;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=21770;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38483296;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,2:6:51:51,0,111
chr1	38022834	rs34251728;rs369244190	C	CT	248.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.274;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.54;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-1.931;SOR=0.412;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34251728;dbSNPBuildID=138,137;ANN=CT|intron_variant|MODIFIER|UTP11|UTP11|transcript|NM_016037.3|protein_coding|7/7|c.678+38dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,14:26:99:0|1:38022834_C_CT:286,0,233
chr1	38919414	rs7522863	A	C	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.751;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7522863;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|RHBDL2|RHBDL2|transcript|NM_001304746.1|protein_coding|1/7|c.116-77T>G||||||,C|intron_variant|MODIFIER|RHBDL2|RHBDL2|transcript|NM_017821.4|protein_coding|1/7|c.-125-77T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4228;p3_1000G_AF=0.844249;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=14723;p3_1000G_EAS_AF=0.7331;p3_1000G_EUR_AF=0.9513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39385086;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.864;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:142,0,162
chr1	38991334	rs12043492	C	T	81.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12043492;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|AKIRIN1|AKIRIN1|transcript|NM_024595.2|protein_coding|1/5|c.-47C>T|||||47|,T|5_prime_UTR_variant|MODIFIER|AKIRIN1|AKIRIN1|transcript|NM_001136275.1|protein_coding|1/4|c.-47C>T|||||47|;p3_1000G_AA=C|||;p3_1000G_AC=3131;p3_1000G_AF=0.6252;p3_1000G_AFR_AF=0.6248;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=5688;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39457006;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:109,9,0
chr1	38991621	rs111311750	T	C	41.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.328;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=-2.189;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111311750;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|AKIRIN1|AKIRIN1|transcript|NM_024595.2|protein_coding|1/4|c.220+21T>C||||||,C|intron_variant|MODIFIER|AKIRIN1|AKIRIN1|transcript|NM_001136275.1|protein_coding|1/3|c.220+21T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=927;p3_1000G_AF=0.185104;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=6390;p3_1000G_EAS_AF=0.1071;p3_1000G_EUR_AF=0.3867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39457293;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=214,1612;ESP6500_AA_GTC=17,180,716;ESP6500_CDS_SIZES=NM_024595.2:579,NM_001136275.1:444;ESP6500_CG=1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=2;ESP6500_EA_AC=1194,3390;ESP6500_EA_GTC=144,906,1242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024595.2:intron,NM_001136275.1:intron;ESP6500_GL=AKIRIN1;ESP6500_GRCh38_POSITION=1:38991621;ESP6500_GTC=161,1086,1958;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024595.2:c.220+21T>C,NM_001136275.1:c.220+21T>C;ESP6500_MAF=26.0471,11.7196,21.9657;ESP6500_TAC=1408,5002	GT:AD:DP:GQ:PL	0/1:4,3:7:70:70,0,112
chr1	39000954	rs11205525	A	G	90.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.049;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.34;ReadPosRankSum=-1.211;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11205525;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|AKIRIN1|AKIRIN1|transcript|NM_024595.2|protein_coding|2/4|c.362-18A>G||||||,G|intron_variant|MODIFIER|AKIRIN1|AKIRIN1|transcript|NM_001136275.1|protein_coding|2/3|c.362-2393A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1129;p3_1000G_AF=0.225439;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=17352;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.3877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39466626;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1207,3199;ESP6500_AA_AGE=707.3+/-407.5;ESP6500_AA_GTC=160,887,1156;ESP6500_CDS_SIZES=NM_024595.2:579,NM_001136275.1:444;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=75;ESP6500_EA_AC=3339,5261;ESP6500_EA_AGE=642.9+/-399.9;ESP6500_EA_GTC=653,2033,1614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024595.2:intron,NM_001136275.1:intron;ESP6500_GL=AKIRIN1;ESP6500_GRCh38_POSITION=1:39000954;ESP6500_GTC=813,2920,2770;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024595.2:c.362-18A>G,NM_001136275.1:c.362-2393A>G;ESP6500_MAF=38.8256,27.3945,34.9531;ESP6500_TAC=4546,8460	GT:AD:DP:GQ:PL	0/1:11,6:17:99:119,0,298
chr1	39001114	rs10888613	C	G	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.266;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.547;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888613;dbSNPBuildID=120;ANN=G|splice_region_variant&intron_variant|LOW|AKIRIN1|AKIRIN1|transcript|NM_024595.2|protein_coding|3/4|c.496+8C>G||||||,G|intron_variant|MODIFIER|AKIRIN1|AKIRIN1|transcript|NM_001136275.1|protein_coding|2/3|c.362-2233C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1129;p3_1000G_AF=0.225439;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=18489;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.3877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39466786;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1207,3199;ESP6500_AA_AGE=694.5+/-405.8;ESP6500_AA_GTC=161,885,1157;ESP6500_CDS_SIZES=NM_024595.2:579,NM_001136275.1:444;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=80;ESP6500_EA_AC=3338,5262;ESP6500_EA_AGE=640.4+/-399.6;ESP6500_EA_GTC=653,2032,1615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024595.2:intron,NM_001136275.1:intron;ESP6500_GL=AKIRIN1;ESP6500_GRCh38_POSITION=1:39001114;ESP6500_GTC=814,2917,2772;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024595.2:c.496+8C>G,NM_001136275.1:c.362-2233C>G;ESP6500_MAF=38.814,27.3945,34.9454;ESP6500_TAC=4545,8461	GT:AD:DP:GQ:PL	0/1:10,10:20:99:223,0,263
chr1	39028994	rs35464164	C	CT	141.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.946;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.651;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.07;SOR=2.448;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35464164;dbSNPBuildID=137;ANN=CT|intron_variant|MODIFIER|NDUFS5|NDUFS5|transcript|NM_001184979.1|protein_coding|2/2|c.216+69dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|NDUFS5|NDUFS5|transcript|NM_004552.2|protein_coding|2/2|c.216+69dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.4327;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=23284;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.83;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39494666;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,8:13:88:179,0,88
chr1	39029015	rs3768323	G	A	679.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3768323;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|NDUFS5|NDUFS5|transcript|NM_001184979.1|protein_coding|2/2|c.216+75G>A||||||,A|intron_variant|MODIFIER|NDUFS5|NDUFS5|transcript|NM_004552.2|protein_coding|2/2|c.216+75G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2703;p3_1000G_AF=0.539736;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=13445;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39494687;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:708,51,0
chr1	39251894	rs2490948	T	C	1311.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2490948;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|3/92|c.372+1791T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4794;p3_1000G_AF=0.957268;p3_1000G_AFR_AF=0.8563;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=18040;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39717566;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:39251894_T_C:1340,129,0
chr1	39283249	rs2275188	G	A	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.088;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.053;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-2.196;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275188;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|MACF1|MACF1|transcript|NM_012090.5|protein_coding|7/93|c.771G>A|p.Gln257Gln|823/17689|771/16293|257/5430||;p3_1000G_AA=G|||;p3_1000G_AC=2975;p3_1000G_AF=0.59405;p3_1000G_AFR_AF=0.2685;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=19182;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.7167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39748921;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1560,2846;ESP6500_AA_AGE=489.7+/-361.6;ESP6500_AA_GTC=277,1006,920;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=5955,2645;ESP6500_EA_AGE=685.6+/-404.1;ESP6500_EA_GTC=2078,1799,423;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:coding-synonymous;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39283249;ESP6500_GTC=2355,2805,1343;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.771G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012090.4:p.(Q257);ESP6500_MAF=30.7558,35.4063,42.219;ESP6500_TAC=7515,5491	GT:AD:DP:GQ:PL	0/1:18,19:37:99:471,0,512
chr1	39284212	rs2039597	G	T	501.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.132;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.675;SOR=0.929;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2039597;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|9/92|c.1050+27G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1034;p3_1000G_AF=0.20647;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=17603;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39749884;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=203,4201;ESP6500_AA_GTC=2,199,2001;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=52;ESP6500_EA_AC=1301,7299;ESP6500_EA_GTC=110,1081,3109;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39284212;ESP6500_GTC=112,1280,5110;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.1050+27G>T;ESP6500_MAF=15.1279,4.6094,11.5657;ESP6500_TAC=1504,11500	GT:AD:DP:GQ:PL	0/1:8,20:28:99:530,0,198
chr1	39292127	rs16826036	G	C	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=0.711;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16826036;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|15/92|c.1929+89G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=607;p3_1000G_AF=0.121206;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=19479;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39757799;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:124,0,250
chr1	39292962	rs16826038	G	A	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.8;ReadPosRankSum=0.431;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16826038;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|16/92|c.2007+119G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=605;p3_1000G_AF=0.120807;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=17990;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39758634;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:57:57,0,149
chr1	39297570	rs2275187	G	A	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.606;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.365;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275187;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|19/92|c.2371-50G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2924;p3_1000G_AF=0.583866;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=20780;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.7197;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39763242;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1555,2851;ESP6500_AA_AGE=487.1+/-360.8;ESP6500_AA_GTC=277,1001,925;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=5954,2646;ESP6500_EA_AGE=685.1+/-404.0;ESP6500_EA_GTC=2078,1798,424;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39297570;ESP6500_GTC=2355,2799,1349;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.2371-50G>A;ESP6500_MAF=30.7674,35.2928,42.2651;ESP6500_TAC=7509,5497	GT:AD:DP:GQ:PL	0/1:17,18:35:99:429,0,398
chr1	39300369	rs41270803	A	G	551.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.27;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=2.2;SOR=1.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41270803;dbSNPBuildID=127;ANN=G|splice_region_variant&intron_variant|LOW|MACF1|MACF1|transcript|NM_012090.5|protein_coding|21/92|c.2649+7A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=609;p3_1000G_AF=0.121605;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=19356;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.1938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39766041;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=194,4212;ESP6500_AA_AGE=111.6+/-149.8;ESP6500_AA_GTC=1,192,2010;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=53;ESP6500_EA_AC=1899,6701;ESP6500_EA_AGE=311.8+/-310.5;ESP6500_EA_GTC=230,1439,2631;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39300369;ESP6500_GTC=231,1631,4641;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.2649+7A>G;ESP6500_MAF=22.0814,4.4031,16.0926;ESP6500_TAC=2093,10913	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,19:46:99:0|1:39300369_A_G:580,0,975
chr1	39300383	rs2275186	C	T	498.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.929;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.36;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.584;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275186;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|21/92|c.2649+21C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2999;p3_1000G_AF=0.598842;p3_1000G_AFR_AF=0.2693;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=19399;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.7187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39766055;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1562,2844;ESP6500_AA_AGE=487.3+/-360.9;ESP6500_AA_GTC=277,1008,918;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=5951,2649;ESP6500_EA_AGE=678.3+/-403.5;ESP6500_EA_GTC=2073,1805,422;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39300383;ESP6500_GTC=2350,2813,1340;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.2649+21C>T;ESP6500_MAF=30.8023,35.4517,42.2344;ESP6500_TAC=7513,5493	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,20:39:99:1|0:39300369_A_G:527,0,717
chr1	39331383	rs16826069	A	G	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.68;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=1.68;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16826069;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|35/92|c.4629+4030A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=801;p3_1000G_AF=0.159944;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=16071;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.1978;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39797055;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=204,4202;ESP6500_AA_AGE=126.1+/-163.2;ESP6500_AA_GTC=1,202,2000;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=81;ESP6500_EA_AC=1945,6655;ESP6500_EA_AGE=343.1+/-324.7;ESP6500_EA_GTC=237,1471,2592;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39331383;ESP6500_GTC=238,1673,4592;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.4629+4030A>G;ESP6500_MAF=22.6163,4.63,16.5231;ESP6500_TAC=2149,10857	GT:AD:DP:GQ:PL	0/1:24,12:36:99:338,0,644
chr1	39336143	rs41270807	A	C	509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.689;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.112;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41270807;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|35/92|c.4629+8790A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=592;p3_1000G_AF=0.118211;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=21062;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.1948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39801815;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=177,4195;ESP6500_AA_GTC=2,173,2011;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=52;ESP6500_EA_AC=1894,6696;ESP6500_EA_GTC=226,1442,2627;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39336143;ESP6500_GTC=228,1615,4638;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.4629+8790A>C;ESP6500_MAF=22.0489,4.0485,15.9775;ESP6500_TAC=2071,10891	GT:AD:DP:GQ:PL	0/1:30,21:51:99:538,0,803
chr1	39336666	rs562176048	CT	C	82.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.267;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=-2.201;SOR=0.437;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|35/92|c.4629+9325delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:26,9:35:99:120,0,613
chr1	39340938	rs3116396	C	T	1113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3116396;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|35/92|c.4630-8540C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4784;p3_1000G_AF=0.955272;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=18493;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39806610;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3995,411;ESP6500_AA_AGE=203.1+/-225.7;ESP6500_AA_GTC=1809,377,17;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=62;ESP6500_EA_AC=8548,52;ESP6500_EA_AGE=32.3+/-84.9;ESP6500_EA_GTC=4248,52,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39340938;ESP6500_GTC=6057,429,17;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.4630-8540C>T;ESP6500_MAF=0.6047,9.3282,3.5599;ESP6500_TAC=12543,463	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1142,117,0
chr1	39346846	rs16826087	C	T	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.921;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.6;ReadPosRankSum=0.921;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16826087;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|35/92|c.4630-2632C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=592;p3_1000G_AF=0.118211;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=19254;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.1948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39812518;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:65:65,0,147
chr1	39346948	rs2490944	G	T	641.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2490944;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|35/92|c.4630-2530G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4779;p3_1000G_AF=0.954273;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=20115;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39812620;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3982,424;ESP6500_AA_AGE=201.8+/-224.7;ESP6500_AA_GTC=1797,388,18;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=8548,52;ESP6500_EA_AGE=31.7+/-84.0;ESP6500_EA_GTC=4248,52,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39346948;ESP6500_GTC=6045,440,18;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.4630-2530G>T;ESP6500_MAF=0.6047,9.6232,3.6598;ESP6500_TAC=12530,476	GT:AD:DP:GQ:PL	1/1:0,19:19:57:670,57,0
chr1	39347150	rs2761764	C	A	1202.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2761764;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|35/92|c.4630-2328C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4779;p3_1000G_AF=0.954273;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=18843;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39812822;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3982,424;ESP6500_AA_AGE=207.2+/-228.6;ESP6500_AA_GTC=1797,388,18;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-1.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=73;ESP6500_EA_AC=8548,52;ESP6500_EA_AGE=32.3+/-84.9;ESP6500_EA_GTC=4248,52,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39347150;ESP6500_GTC=6045,440,18;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.4630-2328C>A;ESP6500_MAF=0.6047,9.6232,3.6598;ESP6500_TAC=12530,476	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1231,111,0
chr1	39349471	rs16826093	T	A	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.404;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=1.24;SOR=0.507;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16826093;dbSNPBuildID=123;ANN=A|splice_region_variant&intron_variant|LOW|MACF1|MACF1|transcript|NM_012090.5|protein_coding|35/92|c.4630-7T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=592;p3_1000G_AF=0.118211;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=20731;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.1938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39815143;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=199,4207;ESP6500_AA_AGE=120.0+/-157.7;ESP6500_AA_GTC=1,197,2005;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=64;ESP6500_EA_AC=1915,6685;ESP6500_EA_AGE=330.6+/-319.3;ESP6500_EA_GTC=230,1455,2615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39349471;ESP6500_GTC=231,1652,4620;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.4630-7T>A;ESP6500_MAF=22.2674,4.5166,16.254;ESP6500_TAC=2114,10892	GT:AD:DP:GQ:PL	0/1:19,19:38:99:491,0,487
chr1	39349672	rs41270811	G	A	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.638;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=0.61;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41270811;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|36/92|c.4779+45G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=590;p3_1000G_AF=0.117812;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=20211;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.1948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39815344;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=194,4212;ESP6500_AA_AGE=121.7+/-159.2;ESP6500_AA_GTC=1,192,2010;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=46;ESP6500_EA_AC=1911,6689;ESP6500_EA_AGE=337.2+/-322.2;ESP6500_EA_GTC=227,1457,2616;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39349672;ESP6500_GTC=228,1649,4626;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.4779+45G>A;ESP6500_MAF=22.2209,4.4031,16.1848;ESP6500_TAC=2105,10901	GT:AD:DP:GQ:PL	0/1:3,7:10:97:199,0,97
chr1	39357360	rs147223845;rs398102659	A	AT	382.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.693;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-1.57;SOR=0.542;INS;HET;VARTYPE=INS;dbSNP138_ID=rs147223845;dbSNPBuildID=134,138;ANN=AT|splice_region_variant&intron_variant|LOW|MACF1|MACF1|transcript|NM_012090.5|protein_coding|38/92|c.5239-6dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:22,19:41:99:420,0,486
chr1	39359046	rs2256614	C	G	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=0.489;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2256614;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|40/92|c.5935-95C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2072;p3_1000G_AF=0.413738;p3_1000G_AFR_AF=0.7375;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=22716;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39824718;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:68:68,0,154
chr1	39370145	rs2296172	A	G	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.529;SOR=0.707;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296172;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|MACF1|MACF1|transcript|NM_012090.5|protein_coding|45/93|c.6868A>G|p.Met2290Val|6920/17689|6868/16293|2290/5430||;p3_1000G_AA=A|||;p3_1000G_AC=592;p3_1000G_AF=0.118211;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=20675;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.1948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39835817;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=194,4212;ESP6500_AA_AGE=122.1+/-159.5;ESP6500_AA_GTC=1,192,2010;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=1919,6681;ESP6500_EA_AGE=339.9+/-323.4;ESP6500_EA_GTC=231,1457,2612;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012090.4:missense;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39370145;ESP6500_GS=21;ESP6500_GTC=232,1649,4622;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.6868A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012090.4:p.(M2290V);ESP6500_MAF=22.314,4.4031,16.2463;ESP6500_PH=benign:0.0;ESP6500_TAC=2113,10893	GT:AD:DP:GQ:PL	0/1:7,5:12:99:140,0,173
chr1	39424005	rs663892	G	A	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.213;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-0.938;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs663892;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|54/92|c.9964-23G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2011;p3_1000G_AF=0.401558;p3_1000G_AFR_AF=0.7337;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=16756;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.2813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39889677;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2816,1566;ESP6500_AA_GTC=915,986,290;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=34;ESP6500_EA_AC=2636,5960;ESP6500_EA_GTC=420,1796,2082;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39424005;ESP6500_GTC=1335,2782,2372;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.9964-23G>A;ESP6500_MAF=30.6654,35.7371,42.0096;ESP6500_TAC=5452,7526	GT:AD:DP:GQ:PL	0/1:6,5:11:99:136,0,186
chr1	39427421	rs625384	C	T	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.56;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=1.66;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs625384;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|55/92|c.10131-34C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1700;p3_1000G_AF=0.339457;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18841;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.2803;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39893093;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=2034,2364;ESP6500_AA_GTC=470,1094,635;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=63;ESP6500_EA_AC=2612,5986;ESP6500_EA_GTC=416,1780,2103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39427421;ESP6500_GTC=886,2874,2738;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.10131-34C>T;ESP6500_MAF=30.3792,46.2483,35.7495;ESP6500_TAC=4646,8350	GT:AD:DP:GQ:PL	0/1:7,5:12:99:127,0,224
chr1	39429788	rs683135	G	A	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=1.52;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs683135;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|58/92|c.10703-39G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2012;p3_1000G_AF=0.401757;p3_1000G_AFR_AF=0.7337;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=19469;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.2823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39895460;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2846,1560;ESP6500_AA_AGE=442.3+/-346.6;ESP6500_AA_GTC=921,1004,278;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=64;ESP6500_EA_AC=2643,5955;ESP6500_EA_AGE=668.8+/-402.6;ESP6500_EA_GTC=419,1805,2075;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39429788;ESP6500_GTC=1340,2809,2353;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.10703-39G>A;ESP6500_MAF=30.7397,35.4063,42.2101;ESP6500_TAC=5489,7515	GT:AD:DP:GQ:PL	0/1:9,18:27:99:446,0,222
chr1	39442834	rs587404	G	A	774.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.41;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.755;SOR=0.617;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs587404;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|MACF1|MACF1|transcript|NM_012090.5|protein_coding|73/93|c.13048G>A|p.Ala4350Thr|13100/17689|13048/16293|4350/5430||;p3_1000G_AA=A|||;p3_1000G_AC=1723;p3_1000G_AF=0.34405;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=20152;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.2823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39908506;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2069,2337;ESP6500_AA_AGE=607.1+/-390.9;ESP6500_AA_GTC=472,1125,606;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=57;ESP6500_EA_AC=2637,5963;ESP6500_EA_AGE=686.1+/-404.1;ESP6500_EA_GTC=418,1801,2081;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012090.4:missense;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39442834;ESP6500_GS=58;ESP6500_GTC=890,2926,2687;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.13048G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012090.4:p.(A4350T);ESP6500_MAF=30.6628,46.9587,36.1833;ESP6500_PH=benign:0.0;ESP6500_TAC=4706,8300	GT:AD:DP:GQ:PL	0/1:46,33:79:99:803,0,1280
chr1	39443054	rs588326	A	G	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.29;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs588326;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|73/92|c.13125+143A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2033;p3_1000G_AF=0.40595;p3_1000G_AFR_AF=0.736;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=22140;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.2823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39908726;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:246,0,240
chr1	39447679	rs2296173	A	G	1188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.33;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=2.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.936;SOR=0.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296173;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|76/92|c.13585-13A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=596;p3_1000G_AF=0.11901;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=21625;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39913351;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=202,4204;ESP6500_AA_AGE=110.4+/-148.6;ESP6500_AA_GTC=3,196,2004;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=63;ESP6500_EA_AC=1917,6681;ESP6500_EA_AGE=330.3+/-319.2;ESP6500_EA_GTC=232,1453,2614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39447679;ESP6500_GTC=235,1649,4618;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.13585-13A>G;ESP6500_MAF=22.2959,4.5847,16.295;ESP6500_TAC=2119,10885	GT:AD:DP:GQ:PL	0/1:50,41:91:99:1217,0,1246
chr1	39448691	rs668556	G	C	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.849;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.151;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=1.82;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs668556;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|MACF1|MACF1|transcript|NM_012090.5|protein_coding|79/93|c.14009G>C|p.Ser4670Thr|14061/17689|14009/16293|4670/5430||;p3_1000G_AA=C|||;p3_1000G_AC=2614;p3_1000G_AF=0.521965;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=16358;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.5775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39914363;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3397,1009;ESP6500_AA_AGE=375.1+/-321.5;ESP6500_AA_GTC=1303,791,109;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=105;ESP6500_EA_AC=4989,3611;ESP6500_EA_AGE=521.5+/-379.9;ESP6500_EA_GTC=1433,2123,744;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012090.4:missense;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39448691;ESP6500_GS=58;ESP6500_GTC=2736,2914,853;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.14009G>C;ESP6500_HGVS_PROTEIN_VAR=NM_012090.4:p.(S4670T);ESP6500_MAF=41.9884,22.9006,35.5221;ESP6500_PH=benign:0.0;ESP6500_TAC=8386,4620	GT:AD:DP:GQ:PL	0/1:7,20:27:99:450,0,146
chr1	39461835	rs783820	G	A	114.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs783820;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|87/92|c.15347-48G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4718;p3_1000G_AF=0.942093;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=13552;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39927507;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3956,450;ESP6500_AA_AGE=211.2+/-231.4;ESP6500_AA_GTC=1768,420,15;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=78;ESP6500_EA_AC=8282,318;ESP6500_EA_AGE=112.3+/-172.5;ESP6500_EA_GTC=3989,304,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39461835;ESP6500_GTC=5757,724,22;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.15347-48G>A;ESP6500_MAF=3.6977,10.2133,5.905;ESP6500_TAC=12238,768	GT:AD:DP:GQ:PL	1/1:0,4:4:12:142,12,0
chr1	39463568	rs7554206	T	C	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.861;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.789;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7554206;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MACF1|MACF1|transcript|NM_012090.5|protein_coding|88/92|c.15502-44T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3367;p3_1000G_AF=0.672324;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=20517;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.7187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39929240;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2430,1976;ESP6500_AA_AGE=554.0+/-378.9;ESP6500_AA_GTC=660,1110,433;ESP6500_CDS_SIZES=NM_012090.4:16293;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=97;ESP6500_EA_AC=5986,2614;ESP6500_EA_AGE=422.0+/-353.9;ESP6500_EA_GTC=2098,1790,412;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012090.4:intron;ESP6500_GL=MACF1;ESP6500_GRCh38_POSITION=1:39463568;ESP6500_GTC=2758,2900,845;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012090.4:c.15502-44T>C;ESP6500_MAF=30.3953,44.8479,35.2914;ESP6500_TAC=8416,4590	GT:AD:DP:GQ:PL	0/1:15,16:31:99:345,0,367
chr1	39492241	rs4660269	A	G	1419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.79;SOR=1.077;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4660269;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|BMP8A|BMP8A|transcript|NM_181809.3|protein_coding|1/7|c.250A>G|p.Met84Val|596/5626|250/1209|84/402||;p3_1000G_AA=A|||;p3_1000G_AC=3367;p3_1000G_AF=0.672324;p3_1000G_AFR_AF=0.2897;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=8040;p3_1000G_EAS_AF=0.6825;p3_1000G_EUR_AF=0.8887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39957913;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1486,1350;ESP6500_AA_GTC=387,712,319;ESP6500_CDS_SIZES=NM_181809.3:1209;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=8;ESP6500_EA_AC=5431,485;ESP6500_EA_GTC=2501,429,28;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181809.3:missense;ESP6500_GL=BMP8A;ESP6500_GRCh38_POSITION=1:39492241;ESP6500_GS=21;ESP6500_GTC=2888,1141,347;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181809.3:c.250A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181809.3:p.(M84V);ESP6500_MAF=8.1981,47.6023,20.9666;ESP6500_PH=benign:0.008;ESP6500_TAC=6917,1835	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1448,159,0
chr1	39492408	rs10888798	C	G	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.24;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.67;MQRankSum=-1.4;QD=16.38;ReadPosRankSum=-0.387;SOR=0.948;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888798;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|BMP8A|BMP8A|transcript|NM_181809.3|protein_coding|1/6|c.334+83C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2765;p3_1000G_AF=0.552117;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=10898;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39958080;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,14:23:99:405,0,208
chr1	39511903	rs6526	C	T	130.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=26.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200415763;dbSNPBuildID=102;ANN=T|splice_region_variant&synonymous_variant|LOW|BMP8A|BMP8A|transcript|NM_181809.3|protein_coding|3/7|c.672C>T|p.Asp224Asp|1018/5626|672/1209|224/402||,T|upstream_gene_variant|MODIFIER|OXCT2P1|OXCT2P1|transcript|NR_132962.1|pseudogene||n.-2963C>T|||||2963|	GT:AD:DP:GQ:PL	1/1:0,5:5:15:159,15,0
chr1	39515213	rs548352792	G	A	62.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.379;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=26.1;MQRankSum=0.799;QD=5.23;ReadPosRankSum=0.414;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|BMP8A|BMP8A|transcript|NM_181809.3|protein_coding|3/6|c.673+3309G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|OXCT2P1|OXCT2P1|transcript|NR_132962.1|pseudogene|1/1|n.348G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=188;p3_1000G_AF=0.0375399;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=15138;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39980885;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:91:91,0,204
chr1	39515850	rs200818147	G	A	636.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.944;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0.982;MLEAC=1;MLEAF=0.5;MQ=46.82;MQRankSum=-0.648;QD=10.98;ReadPosRankSum=0.171;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200818147;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|BMP8A|BMP8A|transcript|NM_181809.3|protein_coding|3/6|c.673+3946G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|OXCT2P1|OXCT2P1|transcript|NR_132962.1|pseudogene|1/1|n.985G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=554;p3_1000G_AF=0.110623;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=23646;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.2167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39981522;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,28:58:99:665,0,770
chr1	39516068	rs41267043	G	A	113.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.881;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.12;MQRankSum=0.52;QD=11.38;ReadPosRankSum=-0.355;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372271083;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|BMP8A|BMP8A|transcript|NM_181809.3|protein_coding|3/6|c.673+4164G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|OXCT2P1|OXCT2P1|transcript|NR_132962.1|pseudogene|1/1|n.1203G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=544;p3_1000G_AF=0.108626;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs372271083;p3_1000G_DP=19584;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.2147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39981740;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:142,0,151
chr1	39521232	rs528983297	A	T	320.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.78;QD=29.16;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|downstream_gene_variant|MODIFIER|OXCT2P1|OXCT2P1|transcript|NR_132962.1|pseudogene||n.*4563A>T|||||4563|,T|downstream_gene_variant|MODIFIER|PPIEL|PPIEL|transcript|NR_003929.2|pseudogene||n.*1048T>A|||||1048|,T|intron_variant|MODIFIER|BMP8A|BMP8A|transcript|NM_181809.3|protein_coding|3/6|c.674-144A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1036;p3_1000G_AF=0.206869;p3_1000G_AFR_AF=0.1604;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=12640;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39986904;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:349,33,0
chr1	39525916	rs3738676	G	T	634.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.674;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=7.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.425;SOR=0.058;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738676;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|BMP8A|BMP8A|transcript|NM_181809.3|protein_coding|7/7|c.*118G>T|||||118|,T|intron_variant|MODIFIER|PPIEL|PPIEL|transcript|NR_003929.2|pseudogene|8/8|n.2411+3139C>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=1696;p3_1000G_AF=0.338658;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=21773;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39991588;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,23:52:99:663,0,1024
chr1	39570014	rs17513135	C	T	301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.021;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.568;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17513135;dbSNPBuildID=123;ANN=T|upstream_gene_variant|MODIFIER|SNORA55|SNORA55|transcript|NR_002983.1|pseudogene||n.-2504G>A|||||2504|,T|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_001135653.1|protein_coding|3/15|c.504-12G>A||||||,T|intron_variant|MODIFIER|LOC101929516|LOC101929516|transcript|NR_125979.1|pseudogene|1/3|n.151-466C>T||||||,T|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_001135654.1|protein_coding|3/14|c.504-12G>A||||||,T|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_003819.3|protein_coding|3/15|c.504-12G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=474;p3_1000G_AF=0.0946486;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=21489;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40035686;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=206,4200;ESP6500_AA_AGE=124.5+/-161.8;ESP6500_AA_GTC=1,204,1998;ESP6500_CDS_SIZES=NM_003819.3:1935,NM_001135654.1:1896,NM_001135653.1:1983;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=67;ESP6500_EA_AC=2034,6566;ESP6500_EA_AGE=349.6+/-327.5;ESP6500_EA_GTC=247,1540,2513;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003819.3:intron,NM_001135654.1:intron,NM_001135653.1:intron;ESP6500_GL=PABPC4;ESP6500_GRCh38_POSITION=1:39570014;ESP6500_GTC=248,1744,4511;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003819.3:c.504-12G>A,NM_001135654.1:c.504-12G>A,NM_001135653.1:c.504-12G>A;ESP6500_MAF=23.6512,4.6754,17.2228;ESP6500_TAC=2240,10766	GT:AD:DP:GQ:PL	0/1:17,13:30:99:330,0,483
chr1	39571175	rs2293476	G	C	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.539;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.889;SOR=0.7;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293476;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|SNORA55|SNORA55|transcript|NR_002983.1|pseudogene||n.-3665C>G|||||3665|,C|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_001135653.1|protein_coding|3/15|c.503+59C>G||||||,C|intron_variant|MODIFIER|LOC101929516|LOC101929516|transcript|NR_125979.1|pseudogene|2/3|n.294+552G>C||||||,C|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_001135654.1|protein_coding|3/14|c.503+59C>G||||||,C|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_003819.3|protein_coding|3/15|c.503+59C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=464;p3_1000G_AF=0.0926518;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=20820;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40036847;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,23:49:99:644,0,774
chr1	39575699	rs398073897;rs79094524	G	GA	270.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.067;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.6;SOR=1.244;INS;HET;VARTYPE=INS;dbSNP138_ID=rs79094524;dbSNPBuildID=138,138;ANN=GA|downstream_gene_variant|MODIFIER|LOC101929516|LOC101929516|transcript|NR_125979.1|pseudogene||n.*2496_*2497insA|||||2497|,GA|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_001135653.1|protein_coding|1/15|c.193+59dupT||||||,GA|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_001135654.1|protein_coding|1/14|c.193+59dupT||||||,GA|intron_variant|MODIFIER|PABPC4|PABPC4|transcript|NM_003819.3|protein_coding|1/15|c.193+59dupT||||||;p3_1000G_AA=AA|AA|AAA|insertion;p3_1000G_AC=484;p3_1000G_AF=0.0966454;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=13058;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.2356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40041371;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,10:16:99:308,0,166
chr1	39626417	rs2695320	T	C	301.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2695320;dbSNPBuildID=100;ANN=C|3_prime_UTR_variant|MODIFIER|HEYL|HEYL|transcript|NM_014571.3|protein_coding|5/5|c.*90A>G|||||90|;p3_1000G_AA=C|||;p3_1000G_AC=4777;p3_1000G_AF=0.953874;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=20076;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40092089;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:330,27,0
chr1	39626792	rs78932473	C	T	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.452;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.548;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.235;SOR=1.949;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78932473;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|HEYL|HEYL|transcript|NM_014571.3|protein_coding|5/5|c.702G>A|p.Arg234Arg|753/4114|702/987|234/328||;p3_1000G_AA=C|||;p3_1000G_AC=51;p3_1000G_AF=0.0101837;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17020;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40092464;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,4358;ESP6500_AA_GTC=0,0,2179;ESP6500_CDS_SIZES=NM_014571.3:987;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=15;ESP6500_EA_AC=2,8516;ESP6500_EA_GTC=0,2,4257;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014571.3:coding-synonymous;ESP6500_GL=HEYL;ESP6500_GRCh38_POSITION=1:39626792;ESP6500_GTC=0,2,6436;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014571.3:c.702G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014571.3:p.(R234);ESP6500_MAF=0.0235,0.0,0.0155;ESP6500_TAC=2,12874	GT:AD:DP:GQ:PL	0/1:18,6:24:99:155,0,513
chr1	39632656	rs784625	T	C	921.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs784625;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|HEYL|HEYL|transcript|NM_014571.3|protein_coding|2/5|c.140A>G|p.His47Arg|191/4114|140/987|47/328||;p3_1000G_AA=C|||;p3_1000G_AC=4954;p3_1000G_AF=0.989217;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16682;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40098328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4398,8;ESP6500_AA_AGE=12.9+/-30.5;ESP6500_AA_GTC=2195,8,0;ESP6500_CDS_SIZES=NM_014571.3:987;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=171;ESP6500_EA_AC=8511,89;ESP6500_EA_AGE=51.1+/-111.2;ESP6500_EA_GTC=4213,85,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014571.3:missense;ESP6500_GL=HEYL;ESP6500_GRCh38_POSITION=1:39632656;ESP6500_GS=29;ESP6500_GTC=6408,93,2;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014571.3:c.140A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014571.3:p.(H47R);ESP6500_MAF=1.0349,0.1816,0.7458;ESP6500_PH=benign:0.0;ESP6500_TAC=12909,97	GT:AD:DP:GQ:PL	1/1:0,29:29:87:950,87,0
chr1	39663394	rs4660340	G	A	960.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.51;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.195;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=1.62;SOR=1.015;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660340;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|NT5C1A|NT5C1A|transcript|NM_032526.2|protein_coding|4/6|c.474C>T|p.Ser158Ser|474/1107|474/1107|158/368||;p3_1000G_AA=G|||;p3_1000G_AC=205;p3_1000G_AF=0.0409345;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=21214;p3_1000G_EAS_AF=0.1101;p3_1000G_EUR_AF=0.0437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40129066;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=47,4359;ESP6500_AA_AGE=50.2+/-85.5;ESP6500_AA_GTC=0,47,2156;ESP6500_CDS_SIZES=NM_032526.1:1107;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=118;ESP6500_EA_AC=357,8243;ESP6500_EA_AGE=119.9+/-179.2;ESP6500_EA_GTC=10,337,3953;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032526.1:coding-synonymous;ESP6500_GL=NT5C1A;ESP6500_GRCh38_POSITION=1:39663394;ESP6500_GTC=10,384,6109;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032526.1:c.474C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032526.1:p.(S158);ESP6500_MAF=4.1512,1.0667,3.1063;ESP6500_TAC=404,12602	GT:AD:DP:GQ:PL	0/1:23,37:60:99:989,0,513
chr1	39683843	rs784633	A	G	337.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs784633;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282396.1|protein_coding|4/4|c.378+94T>C||||||,G|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282397.1|protein_coding|2/2|c.162+599T>C||||||,G|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_016257.3|protein_coding|3/3|c.378+94T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4288;p3_1000G_AF=0.85623;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=11488;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40149515;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:366,30,0
chr1	39683970	rs784634	G	T	2340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=1.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs784634;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|HPCAL4|HPCAL4|transcript|NM_001282396.1|protein_coding|4/5|c.345C>A|p.Arg115Arg|639/4758|345/576|115/191||,T|synonymous_variant|LOW|HPCAL4|HPCAL4|transcript|NM_016257.3|protein_coding|3/4|c.345C>A|p.Arg115Arg|758/4877|345/576|115/191||,T|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282397.1|protein_coding|2/2|c.162+472C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4288;p3_1000G_AF=0.85623;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=12058;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40149642;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3857,547;ESP6500_AA_AGE=762.6+/-413.1;ESP6500_AA_GTC=1694,469,39;ESP6500_CDS_SIZES=NM_016257.2:576;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=41;ESP6500_EA_AC=6936,1664;ESP6500_EA_AGE=729.4+/-406.7;ESP6500_EA_GTC=2788,1360,152;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016257.2:coding-synonymous;ESP6500_GL=HPCAL4;ESP6500_GRCh38_POSITION=1:39683970;ESP6500_GTC=4482,1829,191;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_016257.2:c.345C>A;ESP6500_HGVS_PROTEIN_VAR=NM_016257.2:p.(R115);ESP6500_MAF=19.3488,12.4205,17.0025;ESP6500_TAC=10793,2211	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2369,240,0
chr1	39684198	rs113763288	C	G	694.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=5.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs113763288;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282396.1|protein_coding|3/4|c.163-46G>C||||||,G|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282397.1|protein_coding|2/2|c.162+244G>C||||||,G|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_016257.3|protein_coding|2/3|c.163-46G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4289;p3_1000G_AF=0.85643;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=7847;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40149870;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3881,463;ESP6500_AA_GTC=1749,383,40;ESP6500_CDS_SIZES=NM_016257.2:576;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=8;ESP6500_EA_AC=7040,1402;ESP6500_EA_GTC=2940,1160,121;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016257.2:intron;ESP6500_GL=HPCAL4;ESP6500_GRCh38_POSITION=1:39684198;ESP6500_GTC=4689,1543,161;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_016257.2:c.163-46G>C;ESP6500_MAF=16.6074,10.6584,14.5863;ESP6500_TAC=10921,1865	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:39684198_C_G:723,51,0
chr1	39684203	rs113459798	C	T	433.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.594;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.52;ReadPosRankSum=-1.336;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113459798;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282396.1|protein_coding|3/4|c.163-51G>A||||||,T|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282397.1|protein_coding|2/2|c.162+239G>A||||||,T|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_016257.3|protein_coding|2/3|c.163-51G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1783;p3_1000G_AF=0.35603;p3_1000G_AFR_AF=0.4826;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=7861;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.3519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40149875;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2199,2001;ESP6500_AA_GTC=695,809,596;ESP6500_CDS_SIZES=NM_016257.2:576;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=6;ESP6500_EA_AC=3177,5001;ESP6500_EA_GTC=826,1525,1738;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016257.2:intron;ESP6500_GL=HPCAL4;ESP6500_GRCh38_POSITION=1:39684203;ESP6500_GTC=1521,2334,2334;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016257.2:c.163-51G>A;ESP6500_MAF=38.8481,47.6429,43.4319;ESP6500_TAC=5376,7002	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,13:17:99:0|1:39684198_C_G:462,0,102
chr1	39684484	rs9662128	G	A	553.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.755;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=1.12;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9662128;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|HPCAL4|HPCAL4|transcript|NM_001282396.1|protein_coding|3/5|c.120C>T|p.Ser40Ser|414/4758|120/576|40/191||,A|synonymous_variant|LOW|HPCAL4|HPCAL4|transcript|NM_001282397.1|protein_coding|2/3|c.120C>T|p.Ser40Ser|308/4436|120/360|40/119||,A|synonymous_variant|LOW|HPCAL4|HPCAL4|transcript|NM_016257.3|protein_coding|2/4|c.120C>T|p.Ser40Ser|533/4877|120/576|40/191||;p3_1000G_AA=G|||;p3_1000G_AC=1782;p3_1000G_AF=0.355831;p3_1000G_AFR_AF=0.4811;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=14737;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.3519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40150156;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2018,2388;ESP6500_AA_AGE=561.9+/-380.8;ESP6500_AA_GTC=482,1054,667;ESP6500_CDS_SIZES=NM_016257.2:576;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=57;ESP6500_EA_AC=2855,5745;ESP6500_EA_AGE=447.0+/-361.4;ESP6500_EA_GTC=460,1935,1905;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016257.2:coding-synonymous;ESP6500_GL=HPCAL4;ESP6500_GRCh38_POSITION=1:39684484;ESP6500_GTC=942,2989,2572;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016257.2:c.120C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016257.2:p.(S40);ESP6500_MAF=33.1977,45.8012,37.4673;ESP6500_TAC=4873,8133	GT:AD:DP:GQ:PL	0/1:10,24:34:99:582,0,204
chr1	39684698	rs2746058	C	T	211.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.47;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2746058;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282396.1|protein_coding|2/4|c.-8-87G>A||||||,T|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_001282397.1|protein_coding|1/2|c.-8-87G>A||||||,T|intron_variant|MODIFIER|HPCAL4|HPCAL4|transcript|NM_016257.3|protein_coding|1/3|c.-8-87G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4287;p3_1000G_AF=0.85603;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=16674;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.8241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40150370;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:240,24,0
chr1	39741497	rs497333	T	G	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.096;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.168;SOR=1.058;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs497333;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding|3/10|c.174+88T>G||||||,G|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_006112.3|protein_coding|3/9|c.174+88T>G||||||,G|intron_variant|MODIFIER|PPIE|PPIE|transcript|NR_036543.1|pseudogene|3/9|n.222+88T>G||||||,G|intron_variant|MODIFIER|PPIE|PPIE|transcript|NR_036544.1|pseudogene|3/9|n.222+88T>G||||||,G|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001319293.1|protein_coding|3/9|c.174+88T>G||||||,G|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_203456.2|protein_coding|3/9|c.174+88T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2871;p3_1000G_AF=0.573283;p3_1000G_AFR_AF=0.5446;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=21184;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.6809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40207169;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,15:24:99:453,0,256
chr1	39748853	rs7520588	T	A	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=-1.611;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7520588;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding|7/10|c.509-50T>A||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_006112.3|protein_coding|7/9|c.509-50T>A||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NR_036543.1|pseudogene|7/9|n.557-50T>A||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NR_036544.1|pseudogene|7/9|n.518-50T>A||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001319293.1|protein_coding|7/9|c.470-50T>A||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_203456.2|protein_coding|7/9|c.509-50T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1465;p3_1000G_AF=0.292532;p3_1000G_AFR_AF=0.1936;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=17750;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.3569;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40214525;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4141;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=843,3379;ESP6500_AA_GTC=100,643,1368;ESP6500_CDS_SIZES=NM_203456.2:891,NM_006112.3:906,NM_001195007.1:945;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=11;ESP6500_EA_AC=2886,5576;ESP6500_EA_GTC=505,1876,1850;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203456.2:intron,NM_006112.3:intron,NM_001195007.1:intron;ESP6500_GL=PPIE;ESP6500_GRCh38_POSITION=1:39748853;ESP6500_GTC=605,2519,3218;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_203456.2:c.509-50T>A,NM_006112.3:c.509-50T>A,NM_001195007.1:c.509-50T>A;ESP6500_MAF=34.1054,19.9668,29.3992;ESP6500_TAC=3729,8955	GT:AD:DP:GQ:PL	0/1:5,3:8:62:62,0,164
chr1	39753393	rs1046988	C	T	150.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.654;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.435;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=-0.112;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1046988;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|PPIE|PPIE|transcript|NM_006112.3|protein_coding|10/10|c.*38C>T|||||38|,T|downstream_gene_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding||c.*7026G>A|||||3789|,T|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding|9/10|c.837+341C>T||||||,T|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001319293.1|protein_coding|9/9|c.798+341C>T||||||,T|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_203456.2|protein_coding|9/9|c.837+341C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|PPIE|PPIE|transcript|NR_036543.1|pseudogene|10/10|n.992C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|PPIE|PPIE|transcript|NR_036544.1|pseudogene|10/10|n.953C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1410;p3_1000G_AF=0.28155;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=20825;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.3559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40219065;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=877,3529;ESP6500_AA_AGE=334.7+/-303.5;ESP6500_AA_GTC=92,693,1418;ESP6500_CDS_SIZES=NM_203456.2:891,NM_006112.3:906,NM_001195007.1:945;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=63;ESP6500_EA_AC=3125,5475;ESP6500_EA_AGE=472.6+/-368.4;ESP6500_EA_GTC=547,2031,1722;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203456.2:intron,NM_006112.3:utr-3,NM_001195007.1:intron;ESP6500_GL=PPIE;ESP6500_GRCh38_POSITION=1:39753393;ESP6500_GTC=639,2724,3140;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_203456.2:c.837+341C>T,NM_006112.3:c.*38C>T,NM_001195007.1:c.837+341C>T;ESP6500_MAF=36.3372,19.9047,30.7704;ESP6500_TAC=4002,9004	GT:AD:DP:GQ:PL	0/1:43,10:53:99:179,0,1357
chr1	39760374	rs12094291	G	A	942.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.829;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0.954;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.528;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12094291;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|7/7|c.*45C>T|||||45|,A|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NM_006112.3|protein_coding||c.*7019G>A|||||3605|,A|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NR_036543.1|pseudogene||n.*3605G>A|||||3605|,A|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NR_036544.1|pseudogene||n.*3605G>A|||||3605|,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding|9/10|c.838-2143G>A||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001319293.1|protein_coding|9/9|c.799-3315G>A||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_203456.2|protein_coding|9/9|c.838-3315G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1442;p3_1000G_AF=0.287939;p3_1000G_AFR_AF=0.18;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=16109;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.3569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40226046;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=917,3489;ESP6500_AA_AGE=344.6+/-308.2;ESP6500_AA_GTC=105,707,1391;ESP6500_CDS_SIZES=NM_203456.2:891,NM_001720.3:1209,NM_001195007.1:945;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=3122,5478;ESP6500_EA_AGE=470.8+/-367.9;ESP6500_EA_GTC=548,2026,1726;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203456.2:intron,NM_001720.3:utr-3,NM_001195007.1:intron;ESP6500_GL=BMP8B,PPIE;ESP6500_GRCh38_POSITION=1:39760374;ESP6500_GTC=653,2733,3117;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_203456.2:c.838-3315G>A,NM_001720.3:c.*45C>T,NM_001195007.1:c.838-2143G>A;ESP6500_MAF=36.3023,20.8125,31.0549;ESP6500_TAC=4039,8967	GT:AD:DP:GQ:PL	0/1:40,40:80:99:971,0,1052
chr1	39763625	rs71060328;~rs66541915	A	AC	97.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.921;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.7;MQRankSum=-4.413;QD=2.57;ReadPosRankSum=0.285;SOR=1.112;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71060328;dbSNPBuildID=130;ANN=AC|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding|10/10|c.*28-62dupC||||||INFO_REALIGN_3_PRIME,AC|intron_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|5/6|c.948+86dupG||||||,AC|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001319293.1|protein_coding|9/9|c.799-62dupC||||||INFO_REALIGN_3_PRIME,AC|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_203456.2|protein_coding|9/9|c.838-62dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCC|CC|CCC|deletion;p3_1000G_AC=1886;p3_1000G_AF=0.376597;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=17497;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40229297;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=INDEL;ESP6500_AA_AC=1439,2627;ESP6500_AA_GTC=359,721,953;ESP6500_CDS_SIZES=NM_203456.2:891,NM_001720.3:1209,NM_001195007.1:945;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=7;ESP6500_EA_AC=3819,4141;ESP6500_EA_GTC=867,2085,1028;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203456.2:intron,NM_001720.3:intron,NM_001195007.1:intron;ESP6500_GL=BMP8B,PPIE;ESP6500_GRCh38_POSITION=1:39763625;ESP6500_GTC=1226,2806,1981;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_203456.2:c.838-64_838-63insC,NM_001720.3:c.948+86_948+87insG,NM_001195007.1:c.*1001_*1002insC;ESP6500_MAF=47.9774,35.391,43.7219;ESP6500_TAC=5258,6768	GT:AD:DP:GQ:PL	0/1:31,7:38:99:135,0,992
chr1	39763647	rs493473	G	A	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.82;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.97;MQRankSum=-5.533;QD=2.82;ReadPosRankSum=-0.336;SOR=0.469;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs493473;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding|10/10|c.*28-42G>A||||||,A|intron_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|5/6|c.948+65C>T||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_001319293.1|protein_coding|9/9|c.799-42G>A||||||,A|intron_variant|MODIFIER|PPIE|PPIE|transcript|NM_203456.2|protein_coding|9/9|c.838-42G>A||||||;ESP6500_AA=A;ESP6500_AA_AC=1485,2847;ESP6500_AA_GTC=357,771,1038;ESP6500_CDS_SIZES=NM_203456.2:891,NM_001720.3:1209,NM_001195007.1:945;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=16;ESP6500_EA_AC=3835,4639;ESP6500_EA_GTC=890,2055,1292;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203456.2:intron,NM_001720.3:intron,NM_001195007.1:intron;ESP6500_GL=BMP8B,PPIE;ESP6500_GRCh38_POSITION=1:39763647;ESP6500_GTC=1247,2826,2330;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_203456.2:c.838-42G>A,NM_001720.3:c.948+65C>T,NM_001195007.1:c.*1023G>A;ESP6500_MAF=45.2561,34.2798,41.543;ESP6500_TAC=5320,7486	GT:AD:DP:GQ:PL	0/1:41,11:52:99:175,0,1280
chr1	39763696	rs2463260	A	G	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.63;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=6.188;MLEAC=1;MLEAF=0.5;MQ=55.88;MQRankSum=-6.219;QD=4.82;ReadPosRankSum=-0.838;SOR=1.691;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2463260;dbSNPBuildID=104;ANN=G|missense_variant|MODERATE|PPIE|PPIE|transcript|NM_001319293.1|protein_coding|10/10|c.806A>G|p.Glu269Gly|862/1080|806/852|269/283||,G|missense_variant|MODERATE|PPIE|PPIE|transcript|NM_203456.2|protein_coding|10/10|c.845A>G|p.Glu282Gly|901/1119|845/891|282/296||,G|3_prime_UTR_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding|11/11|c.*35A>G|||||1072|,G|intron_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|5/6|c.948+16T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1832;p3_1000G_AF=0.365815;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=13491;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.4473;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40229368;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:62,17:79:99:409,0,1611
chr1	39764664	rs179472	C	G	618.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=132;ExcessHet=3.0103;FS=0.801;MLEAC=1;MLEAF=0.5;MQ=42.28;MQRankSum=-3.606;QD=4.69;ReadPosRankSum=-0.114;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76376226;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|4/7|c.827G>C|p.Ser276Thr|1203/4822|827/1209|276/402||,G|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding||c.*2040C>G|||||750|,G|downstream_gene_variant|MODIFIER|OXCT2|OXCT2|transcript|NM_022120.1|protein_coding||c.*5038G>C|||||4861|,G|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NM_001319293.1|protein_coding||c.*922C>G|||||750|,G|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NM_203456.2|protein_coding||c.*922C>G|||||750|	GT:AD:DP:GQ:PL	0/1:99,33:132:99:647,0,2600
chr1	39764859	rs16826268;rs115705483	C	T	636.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.456;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=4.568;MLEAC=1;MLEAF=0.5;MQ=41.3;MQRankSum=-2.665;QD=6.3;ReadPosRankSum=1.12;SOR=1.323;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115705483;dbSNPBuildID=123;ANN=T|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NM_001195007.1|protein_coding||c.*2235C>T|||||945|,T|downstream_gene_variant|MODIFIER|OXCT2|OXCT2|transcript|NM_022120.1|protein_coding||c.*4843G>A|||||4666|,T|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NM_001319293.1|protein_coding||c.*1117C>T|||||945|,T|downstream_gene_variant|MODIFIER|PPIE|PPIE|transcript|NM_203456.2|protein_coding||c.*1117C>T|||||945|,T|intron_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|3/6|c.674-42G>A||||||;ESP6500_AA=C;ESP6500_AA_AC=134,4224;ESP6500_AA_AGE=83.9+/-122.4;ESP6500_AA_GTC=6,122,2051;ESP6500_CDS_SIZES=NM_001720.3:1209;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=51;ESP6500_EA_AC=1123,7439;ESP6500_EA_AGE=198.2+/-242.6;ESP6500_EA_GTC=34,1055,3192;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001720.3:intron;ESP6500_GL=BMP8B;ESP6500_GRCh38_POSITION=1:39764859;ESP6500_GTC=40,1177,5243;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001720.3:c.674-42G>A;ESP6500_MAF=13.1161,3.0748,9.7291;ESP6500_TAC=1257,11663	GT:AD:DP:GQ:PL	0/1:71,30:101:99:665,0,1865
chr1	39788054	rs230328	C	T	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.189;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.772;MLEAC=1;MLEAF=0.5;MQ=51.03;MQRankSum=-2.972;QD=16.88;ReadPosRankSum=-1.739;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs230328;dbSNPBuildID=79;ANN=T|upstream_gene_variant|MODIFIER|LOC101929536|LOC101929536|transcript|NR_135805.1|pseudogene||n.-922C>T|||||922|,T|intron_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|1/6|c.334+98G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2254;p3_1000G_AF=0.45008;p3_1000G_AFR_AF=0.6188;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=10180;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.4533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40253726;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,11:18:99:332,0,169
chr1	39788096	rs60164088	C	CA	592.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.133;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.82;MQRankSum=-3.209;QD=19.76;ReadPosRankSum=2;SOR=0.859;INS;HET;VARTYPE=INS;dbSNP138_ID=rs60164088;dbSNPBuildID=129;ANN=CA|upstream_gene_variant|MODIFIER|LOC101929536|LOC101929536|transcript|NR_135805.1|pseudogene||n.-880_-879insA|||||879|,CA|intron_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|1/6|c.334+55_334+56insT||||||;p3_1000G_AA=?|-|A|unsure;p3_1000G_AC=2475;p3_1000G_AF=0.494209;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=10124;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.4901;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40253768;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,16:30:99:0|1:39788096_C_CA:630,0,737
chr1	39788098	rs4068800	C	T	622.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.773;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.82;MQRankSum=-3.209;QD=20.76;ReadPosRankSum=2.18;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4068800;dbSNPBuildID=108;ANN=T|upstream_gene_variant|MODIFIER|LOC101929536|LOC101929536|transcript|NR_135805.1|pseudogene||n.-878C>T|||||878|,T|intron_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|1/6|c.334+54G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2478;p3_1000G_AF=0.494808;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=9885;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.4911;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40253770;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,16:30:99:0|1:39788096_C_CA:651,0,734
chr1	39788114	rs230329	C	T	672.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.77;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.03;MQRankSum=-2.779;QD=18.69;ReadPosRankSum=1.87;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs230329;dbSNPBuildID=79;ANN=T|upstream_gene_variant|MODIFIER|LOC101929536|LOC101929536|transcript|NR_135805.1|pseudogene||n.-862C>T|||||862|,T|intron_variant|MODIFIER|BMP8B|BMP8B|transcript|NM_001720.4|protein_coding|1/6|c.334+38G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2467;p3_1000G_AF=0.492612;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=9902;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.4901;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40253786;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,20:36:99:0|1:39788096_C_CA:701,0,769
chr1	39850216	rs3738671	A	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.264;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=0.097;SOR=0.566;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738671;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|TRIT1|TRIT1|transcript|NM_017646.5|protein_coding|5/11|c.606T>A|p.Phe202Leu|626/2137|606/1404|202/467||,T|missense_variant|MODERATE|TRIT1|TRIT1|transcript|NM_001312691.1|protein_coding|5/10|c.606T>A|p.Phe202Leu|626/2059|606/1326|202/441||,T|missense_variant|MODERATE|TRIT1|TRIT1|transcript|NM_001312692.1|protein_coding|3/9|c.366T>A|p.Phe122Leu|386/1891|366/1158|122/385||,T|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132409.1|pseudogene|1/6|n.195-2119T>A||||||,T|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132412.1|pseudogene|1/5|n.195-2119T>A||||||,T|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132413.1|pseudogene|1/3|n.195-5576T>A||||||,T|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132414.1|pseudogene|1/1|n.195-8303T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132401.1|pseudogene|5/11|n.626T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132402.1|pseudogene|4/10|n.480T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132403.1|pseudogene|4/10|n.480T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132404.1|pseudogene|4/10|n.480T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132405.1|pseudogene|4/10|n.480T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132406.1|pseudogene|4/9|n.480T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132407.1|pseudogene|2/8|n.240T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132408.1|pseudogene|2/8|n.240T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132410.1|pseudogene|2/7|n.240T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132415.1|pseudogene|5/11|n.626T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=857;p3_1000G_AF=0.171126;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=18145;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40315888;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=751,3655;ESP6500_AA_AGE=306.3+/-289.4;ESP6500_AA_GTC=61,629,1513;ESP6500_CDS_SIZES=NM_017646.4:1404;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=75;ESP6500_EA_AC=418,8182;ESP6500_EA_AGE=130.8+/-188.7;ESP6500_EA_GTC=15,388,3897;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017646.4:missense;ESP6500_GL=TRIT1;ESP6500_GRCh38_POSITION=1:39850216;ESP6500_GS=22;ESP6500_GTC=76,1017,5410;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_017646.4:c.606T>A;ESP6500_HGVS_PROTEIN_VAR=NM_017646.4:p.(F202L);ESP6500_MAF=4.8605,17.0449,8.9882;ESP6500_PH=benign:0.002;ESP6500_TAC=1169,11837	GT:AD:DP:GQ:PL	0/1:17,9:26:99:178,0,409
chr1	39853915	rs2294814	A	C	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.49;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294814;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NM_017646.5|protein_coding|3/10|c.414+55T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NM_001312691.1|protein_coding|3/9|c.414+55T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NM_001312692.1|protein_coding|1/8|c.175-1039T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132401.1|pseudogene|3/10|n.434+55T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132402.1|pseudogene|3/9|n.434+55T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132403.1|pseudogene|3/9|n.434+55T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132404.1|pseudogene|3/9|n.434+55T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132405.1|pseudogene|3/9|n.434+55T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132406.1|pseudogene|3/8|n.434+55T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132407.1|pseudogene|1/7|n.195-3654T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132408.1|pseudogene|1/7|n.195-3654T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132409.1|pseudogene|1/6|n.195-5818T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132410.1|pseudogene|1/6|n.195-3654T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132412.1|pseudogene|1/5|n.195-5818T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132413.1|pseudogene|1/3|n.195-9275T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132414.1|pseudogene|1/1|n.195-12002T>G||||||,C|intron_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132415.1|pseudogene|3/10|n.434+55T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3033;p3_1000G_AF=0.605631;p3_1000G_AFR_AF=0.9039;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=20031;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40319587;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:259,0,198
chr1	39883459	rs3845570	G	A	722.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.927;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.266;SOR=1.668;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3845570;dbSNPBuildID=108;ANN=A|synonymous_variant|LOW|TRIT1|TRIT1|transcript|NM_017646.5|protein_coding|1/11|c.33C>T|p.Pro11Pro|53/2137|33/1404|11/467||,A|synonymous_variant|LOW|TRIT1|TRIT1|transcript|NM_001312691.1|protein_coding|1/10|c.33C>T|p.Pro11Pro|53/2059|33/1326|11/441||,A|synonymous_variant|LOW|TRIT1|TRIT1|transcript|NM_001312692.1|protein_coding|1/9|c.33C>T|p.Pro11Pro|53/1891|33/1158|11/385||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132401.1|pseudogene|1/11|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132402.1|pseudogene|1/10|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132403.1|pseudogene|1/10|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132404.1|pseudogene|1/10|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132405.1|pseudogene|1/10|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132406.1|pseudogene|1/9|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132407.1|pseudogene|1/8|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132408.1|pseudogene|1/8|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132409.1|pseudogene|1/7|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132410.1|pseudogene|1/7|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132412.1|pseudogene|1/6|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132413.1|pseudogene|1/4|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132414.1|pseudogene|1/2|n.53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIT1|TRIT1|transcript|NR_132415.1|pseudogene|1/11|n.53C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2547;p3_1000G_AF=0.508586;p3_1000G_AFR_AF=0.6157;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=13891;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.3946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40349131;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2498,1908;ESP6500_AA_GTC=718,1062,423;ESP6500_CDS_SIZES=NM_017646.4:1404;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=26;ESP6500_EA_AC=3379,5219;ESP6500_EA_GTC=654,2071,1574;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017646.4:coding-synonymous;ESP6500_GL=TRIT1;ESP6500_GRCh38_POSITION=1:39883459;ESP6500_GTC=1372,3133,1997;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017646.4:c.33C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017646.4:p.(P11);ESP6500_MAF=39.2998,43.3046,45.1938;ESP6500_TAC=5877,7127	GT:AD:DP:GQ:PL	0/1:15,28:43:99:751,0,368
chr1	39897382	rs3134614	G	C	1452.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.28;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3134614;dbSNPBuildID=103;ANN=C|missense_variant|MODERATE|MYCL|MYCL|transcript|NM_001033082.2|protein_coding|3/3|c.1175C>G|p.Thr392Ser|1302/3260|1175/1185|392/394||,C|missense_variant|MODERATE|MYCL|MYCL|transcript|NM_001033081.2|protein_coding|2/2|c.1085C>G|p.Thr362Ser|1666/3624|1085/1095|362/364||,C|downstream_gene_variant|MODIFIER|MYCL|MYCL|transcript|NM_005376.4|protein_coding||c.*3432C>G|||||2230|;p3_1000G_AA=C|||;p3_1000G_AC=4686;p3_1000G_AF=0.935703;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=20696;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8917;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40363054;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4295,111;ESP6500_AA_AGE=85.3+/-124.0;ESP6500_AA_GTC=2092,111,0;ESP6500_CDS_SIZES=NM_001033082.2:1185,NM_001033081.2:1095;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=96;ESP6500_EA_AC=7458,1142;ESP6500_EA_AGE=234.9+/-267.6;ESP6500_EA_GTC=3244,970,86;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001033082.2:missense,NM_001033081.2:missense;ESP6500_GL=MYCL1;ESP6500_GRCh38_POSITION=1:39897382;ESP6500_GS=58,58;ESP6500_GTC=5336,1081,86;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001033082.2:c.1175C>G,NM_001033081.2:c.1085C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001033082.2:p.(T392S),NM_001033081.2:p.(T362S);ESP6500_MAF=13.2791,2.5193,9.634;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11753,1253	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1481,135,0
chr1	39901920	rs804719	A	G	200.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.1;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs367818003,rs804719;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_001033082.2|protein_coding|1/3|c.-32T>C|||||32|,G|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_001033081.2|protein_coding|1/2|c.-486T>C|||||486|,G|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_005376.4|protein_coding|1/2|c.-32T>C|||||32|;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=5898;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40367592;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:229,24,0
chr1	39901926	rs145342438;~rs71733794	G	GC	63.87	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.28;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs145342438;dbSNPBuildID=134;ANN=GC|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_001033082.2|protein_coding|1/3|c.-39dupG|||||39|,GC|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_001033081.2|protein_coding|1/2|c.-493dupG|||||493|,GC|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_005376.4|protein_coding|1/2|c.-39dupG|||||39|;p3_1000G_AC=928;p3_1000G_AF=0.185304;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=7339;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40367598;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=INDEL;ESP6500_AA_AC=19,39;ESP6500_AA_GTC=9,1,19;ESP6500_CDS_SIZES=NM_005376.4:711,NM_001033082.2:1185,NM_001033081.2:1095;ESP6500_CG=2.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=1;ESP6500_EA_AC=8,94;ESP6500_EA_GTC=4,0,47;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005376.4:utr-5,NM_001033082.2:utr-5,NM_001033081.2:utr-5;ESP6500_GL=MYCL1;ESP6500_GRCh38_POSITION=1:39901926;ESP6500_GTC=13,1,66;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005376.4:c.-39_-38insG,NM_001033082.2:c.-39_-38insG,NM_001033081.2:c.-493_-492insG;ESP6500_MAF=7.8431,32.7586,16.875;ESP6500_TAC=27,133	GT:AD:DP:GQ:PL	0/1:1,4:5:15:101,0,15
chr1	39901953	rs11207097	G	T	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.98;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11207097;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_001033082.2|protein_coding|1/3|c.-65C>A|||||65|,T|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_001033081.2|protein_coding|1/2|c.-519C>A|||||519|,T|5_prime_UTR_variant|MODIFIER|MYCL|MYCL|transcript|NM_005376.4|protein_coding|1/2|c.-65C>A|||||65|;p3_1000G_AA=G|||;p3_1000G_AC=862;p3_1000G_AF=0.172125;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=6239;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40367625;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:28:118,0,28
chr1	39966055	rs6676052	A	G	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=4.839;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-2.094;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6676052;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MFSD2A|MFSD2A|transcript|NM_001136493.2|protein_coding|6/13|c.753+41A>G||||||,G|intron_variant|MODIFIER|MFSD2A|MFSD2A|transcript|NM_001287808.1|protein_coding|4/11|c.246+41A>G||||||,G|intron_variant|MODIFIER|MFSD2A|MFSD2A|transcript|NM_001287809.1|protein_coding|6/13|c.603+41A>G||||||,G|intron_variant|MODIFIER|MFSD2A|MFSD2A|transcript|NM_032793.4|protein_coding|6/13|c.714+41A>G||||||,G|intron_variant|MODIFIER|MFSD2A|MFSD2A|transcript|NR_109896.1|pseudogene|6/11|n.895+41A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=901;p3_1000G_AF=0.179912;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=20697;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40431727;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=811,3595;ESP6500_AA_AGE=316.3+/-294.6;ESP6500_AA_GTC=77,657,1469;ESP6500_CDS_SIZES=NM_032793.3:1593,NM_001136493.1:1632;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=38;ESP6500_EA_AC=45,8555;ESP6500_EA_AGE=29.6+/-80.5;ESP6500_EA_GTC=0,45,4255;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032793.3:intron,NM_001136493.1:intron;ESP6500_GL=MFSD2A;ESP6500_GRCh38_POSITION=1:39966055;ESP6500_GTC=77,702,5724;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032793.3:c.714+41A>G,NM_001136493.1:c.753+41A>G;ESP6500_MAF=0.5233,18.4067,6.5816;ESP6500_TAC=856,12150	GT:AD:DP:GQ:PL	0/1:20,18:38:99:535,0,594
chr1	40067594	rs11207440	T	G	1764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.57;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11207440;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_001105530.1|protein_coding|8/13|c.685T>G|p.Cys229Gly|896/2755|685/1428|229/475||,G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_006367.3|protein_coding|8/13|c.685T>G|p.Cys229Gly|914/2773|685/1428|229/475||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=14060;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40533266;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:40067594_T_G:1793,126,0
chr1	40067615	rs6665926	T	G	1754.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.07;SOR=2.531;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6665926;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_001105530.1|protein_coding|8/13|c.706T>G|p.Cys236Gly|917/2755|706/1428|236/475||,G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_006367.3|protein_coding|8/13|c.706T>G|p.Cys236Gly|935/2773|706/1428|236/475||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=13755;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40533287;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:40067594_T_G:1783,126,0
chr1	40067643	rs6665933	T	G	2176.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6665933;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_001105530.1|protein_coding|8/13|c.734T>G|p.Ile245Ser|945/2755|734/1428|245/475||,G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_006367.3|protein_coding|8/13|c.734T>G|p.Ile245Ser|963/2773|734/1428|245/475||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=13998;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40533315;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,49:49:99:1|1:40067643_T_G:2205,147,0
chr1	40067648	rs6665936	T	G	2311.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6665936;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_001105530.1|protein_coding|8/13|c.739T>G|p.Cys247Gly|950/2755|739/1428|247/475||,G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_006367.3|protein_coding|8/13|c.739T>G|p.Cys247Gly|968/2773|739/1428|247/475||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=14151;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40533320;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,49:49:99:1|1:40067643_T_G:2340,157,0
chr1	40067654	rs6665937	T	G	2291.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.79;SOR=2.54;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6665937;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_001105530.1|protein_coding|8/13|c.745T>G|p.Tyr249Asp|956/2755|745/1428|249/475||,G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_006367.3|protein_coding|8/13|c.745T>G|p.Tyr249Asp|974/2773|745/1428|249/475||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=14276;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40533326;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,51:51:99:1|1:40067643_T_G:2320,157,0
chr1	40067675	rs6665944	T	G	2474.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6665944;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_001105530.1|protein_coding|8/13|c.766T>G|p.Ser256Ala|977/2755|766/1428|256/475||,G|missense_variant|MODERATE|CAP1|CAP1|transcript|NM_006367.3|protein_coding|8/13|c.766T>G|p.Ser256Ala|995/2773|766/1428|256/475||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15133;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40533347;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,58:58:99:1|1:40067643_T_G:2503,175,0
chr1	40070402	rs58190778	C	CT	2974.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=1.091;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs58190778;dbSNPBuildID=129;ANN=CT|downstream_gene_variant|MODIFIER|PPT1|PPT1|transcript|NM_000310.3|protein_coding||c.*3658_*3659insA|||||2307|,CT|downstream_gene_variant|MODIFIER|PPT1|PPT1|transcript|NM_001142604.1|protein_coding||c.*3658_*3659insA|||||2307|,CT|intron_variant|MODIFIER|CAP1|CAP1|transcript|NM_001105530.1|protein_coding|10/12|c.1118-28_1118-27insT||||||,CT|intron_variant|MODIFIER|CAP1|CAP1|transcript|NM_006367.3|protein_coding|10/12|c.1118-28_1118-27insT||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=3689;p3_1000G_AF=0.736621;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=20733;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40536074;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=INDEL;ESP6500_AA_AC=3604,82;ESP6500_AA_GTC=1765,74,4;ESP6500_CDS_SIZES=NM_006367.3:1428,NM_001105530.1:1428;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=128;ESP6500_EA_AC=7922,0;ESP6500_EA_GTC=3961,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006367.3:intron,NM_001105530.1:intron;ESP6500_GL=CAP1;ESP6500_GRCh38_POSITION=1:40070402;ESP6500_GTC=5726,74,4;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006367.3:c.1118-28_1118-27insT,NM_001105530.1:c.1118-28_1118-27insT;ESP6500_MAF=0.0,2.2246,0.7064;ESP6500_TAC=11526,82	GT:AD:DP:GQ:PL	1/1:0,75:75:99:3012,226,0
chr1	40080292	rs3122428	T	G	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.275;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3122428;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_000310.3|protein_coding|6/8|c.627+105A>C||||||,G|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_001142604.1|protein_coding|3/5|c.318+105A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3677;p3_1000G_AF=0.734225;p3_1000G_AFR_AF=0.7005;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=20486;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.7843;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40545964;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:182,0,125
chr1	40089649	rs3131651	C	T	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.039;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=1.01;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3131651;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_000310.3|protein_coding|4/8|c.434-137G>A||||||,T|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_001142604.1|protein_coding|1/5|c.125-137G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2235;p3_1000G_AF=0.446286;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=19809;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40555321;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:281,0,217
chr1	40091250	rs3122439	T	C	1134.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3122439;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_000310.3|protein_coding|4/8|c.433+79A>G||||||,C|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_001142604.1|protein_coding|1/5|c.125-1738A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4979;p3_1000G_AF=0.994209;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20859;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40556922;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1163,96,0
chr1	40091984	rs6672053	G	A	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.18;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.231;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.252;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6672053;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_000310.3|protein_coding|3/8|c.362+61C>T||||||,A|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_001142604.1|protein_coding|1/5|c.125-2472C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3111;p3_1000G_AF=0.621206;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=20623;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.7505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40557656;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7035;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,12:26:99:304,0,398
chr1	40092584	rs4481840	C	G	652.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.25;SOR=5.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4481840;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_000310.3|protein_coding|1/8|c.125-77G>C||||||,G|intron_variant|MODIFIER|PPT1|PPT1|transcript|NM_001142604.1|protein_coding|1/5|c.125-3072G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4981;p3_1000G_AF=0.994609;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18083;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40558256;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:681,48,0
chr1	40097321	rs6600313;297250	T	C	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=0.153;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6600313;dbSNPBuildID=116;ANN=C|5_prime_UTR_variant|MODIFIER|PPT1|PPT1|transcript|NM_000310.3|protein_coding|1/9|c.-83A>G|||||83|,C|5_prime_UTR_variant|MODIFIER|PPT1|PPT1|transcript|NM_001142604.1|protein_coding|1/6|c.-83A>G|||||83|;p3_1000G_AA=C|||;p3_1000G_AC=4170;p3_1000G_AF=0.832668;p3_1000G_AFR_AF=0.7269;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=13721;p3_1000G_EAS_AF=0.881;p3_1000G_EUR_AF=0.8897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40562993;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP;CLINVAR_ALLELEID=280858;CLINVAR_CLNDISDB=MedGen:CN239323;CLINVAR_CLNDN=Neuronal_Ceroid-Lipofuscinosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.40097321T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1179;CLINVAR_GENEINFO=PPT1:5538;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6600313	GT:AD:DP:GQ:PL	0/1:8,3:11:94:94,0,282
chr1	40235706	rs2235985	T	G	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.385;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=-0.385;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235985;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|RLF|RLF|transcript|NM_012421.3|protein_coding|7/7|c.1090-86T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=650;p3_1000G_AF=0.129792;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=17417;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40701378;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:68:75,0,68
chr1	40240054	rs10889205	A	T	1071.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.742;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-1.226;SOR=0.837;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10889205;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|RLF|RLF|transcript|NM_012421.3|protein_coding|8/8|c.5352A>T|p.Glu1784Asp|5383/6250|5352/5745|1784/1914||;p3_1000G_AA=A|||;p3_1000G_AC=743;p3_1000G_AF=0.148363;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=20224;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40705726;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1001,3405;ESP6500_AA_AGE=364.6+/-317.1;ESP6500_AA_GTC=110,781,1312;ESP6500_CDS_SIZES=NM_012421.3:5745;ESP6500_CG=-11.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=59;ESP6500_EA_AC=1718,6882;ESP6500_EA_AGE=307.4+/-308.4;ESP6500_EA_GTC=150,1418,2732;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012421.3:missense;ESP6500_GL=RLF;ESP6500_GRCh38_POSITION=1:40240054;ESP6500_GS=45;ESP6500_GTC=260,2199,4044;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_012421.3:c.5352A>T;ESP6500_HGVS_PROTEIN_VAR=NM_012421.3:p.(E1784D);ESP6500_MAF=19.9767,22.719,20.9057;ESP6500_PH=benign:0.0;ESP6500_TAC=2719,10287	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1100,0,817
chr1	40267986	rs7516571;140525	A	G	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=0.194;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7516571;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ZMPSTE24|ZMPSTE24|transcript|NM_005857.4|protein_coding|3/9|c.357+114A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1115;p3_1000G_AF=0.222644;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=19925;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.2296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40733658;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.2226;CLINVAR_ALLELEID=150203;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.40267986A>G;CLINVAR_CLNREVSTAT=no_assertion_provided;CLINVAR_CLNSIG=not_provided;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ZMPSTE24:10269;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7516571	GT:AD:DP:GQ:PL	0/1:4,9:13:99:334,0,111
chr1	40271844	rs6677717;140535	T	G	371.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6677717;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ZMPSTE24|ZMPSTE24|transcript|NM_005857.4|protein_coding|5/9|c.628-50T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4974;p3_1000G_AF=0.993211;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=15050;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40737516;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4396,8;ESP6500_AA_AGE=12.9+/-30.5;ESP6500_AA_GTC=2194,8,0;ESP6500_CDS_SIZES=NM_005857.4:1428;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=35;ESP6500_EA_AC=8474,124;ESP6500_EA_AGE=56.8+/-118.0;ESP6500_EA_GTC=4175,124,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005857.4:intron;ESP6500_GL=ZMPSTE24;ESP6500_GRCh38_POSITION=1:40271844;ESP6500_GTC=6369,132,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_005857.4:c.628-50T>G;ESP6500_MAF=1.4422,0.1817,1.0152;ESP6500_TAC=12870,132;CLINVAR_ALLELEID=150213;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.40271844T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ZMPSTE24:10269;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6677717	GT:AD:DP:GQ:PL	1/1:0,12:12:36:400,36,0
chr1	40306301	rs2076696	C	G	1361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=3.026;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076696;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|19/31|c.1009-114G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=804;p3_1000G_AF=0.160543;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=21280;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40771973;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1390,108,0
chr1	40307477	rs2228564;258399	T	C	1789.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=0.78;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228564;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|19/32|c.977A>G|p.Gln326Arg|1047/2831|977/2070|326/689||;p3_1000G_AA=c|||;p3_1000G_AC=1990;p3_1000G_AF=0.397364;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=16686;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.2157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40773149;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP;ESP6500_AA_AC=1777,2629;ESP6500_AA_GTC=362,1053,788;ESP6500_CDS_SIZES=NM_001852.3:2070;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=37;ESP6500_EA_AC=1840,6760;ESP6500_EA_GTC=190,1460,2650;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001852.3:missense;ESP6500_GL=COL9A2;ESP6500_GRCh38_POSITION=1:40307477;ESP6500_GS=43;ESP6500_GTC=552,2513,3438;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001852.3:c.977A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001852.3:p.(Q326R);ESP6500_MAF=21.3953,40.3314,27.8102;ESP6500_PH=benign:0.0;ESP6500_TAC=3617,9389;CLINVAR_AF_ESP=0.2781;CLINVAR_AF_EXAC=0.30335;CLINVAR_AF_TGP=0.3974;CLINVAR_ALLELEID=249913;CLINVAR_CLNDISDB=MedGen:CN043640|MedGen:CN169374|MedGen:CN239473;CLINVAR_CLNDN=Multiple_Epiphyseal_Dysplasia,_Dominant|not_specified|Stickler_Syndrome,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.40307477T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1248|UniProtKB_(protein):Q14055#VAR_012659;CLINVAR_GENEINFO=COL9A2:1298;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2228564	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:40307477_T_C:1818,138,0
chr1	40307478	rs12077871;258398	G	A	620.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.379;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.139;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.12;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12077871;dbSNPBuildID=120;ANN=A|stop_gained|HIGH|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|19/32|c.976C>T|p.Gln326*|1046/2831|976/2070|326/689||;LOF=(COL9A2|COL9A2|1|1.00);NMD=(COL9A2|COL9A2|1|1.00);p3_1000G_AA=g|||;p3_1000G_AC=320;p3_1000G_AF=0.0638978;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=17162;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40773150;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP;ESP6500_AA_AC=399,4007;ESP6500_AA_GTC=40,319,1844;ESP6500_CDS_SIZES=NM_001852.3:2070;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=9,8591;ESP6500_EA_GTC=0,9,4291;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001852.3:stop-gained;ESP6500_GL=COL9A2;ESP6500_GRCh38_POSITION=1:40307478;ESP6500_GTC=40,328,6135;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001852.3:c.976C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001852.3:p.(Q326*);ESP6500_MAF=0.1047,9.0558,3.137;ESP6500_TAC=408,12598;CLINVAR_AF_ESP=0.0314;CLINVAR_AF_EXAC=0.03189;CLINVAR_AF_TGP=0.0639;CLINVAR_ALLELEID=249914;CLINVAR_CLNDISDB=MedGen:CN043640|MedGen:CN169374|MedGen:CN239473;CLINVAR_CLNDN=Multiple_Epiphyseal_Dysplasia,_Dominant|not_specified|Stickler_Syndrome,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.40307478G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:99570;CLINVAR_GENEINFO=COL9A2:1298;CLINVAR_MC=SO:0001587|nonsense;CLINVAR_ORIGIN=1;CLINVAR_RS=12077871	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,28:46:99:0|1:40307477_T_C:649,0,415
chr1	40311080	rs3737815;258392	C	A	1004.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737815;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|12/31|c.630+13G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=892;p3_1000G_AF=0.178115;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=17475;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40776752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=270,4136;ESP6500_AA_GTC=9,252,1942;ESP6500_CDS_SIZES=NM_001852.3:2070;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=128;ESP6500_EA_AC=1326,7274;ESP6500_EA_GTC=95,1136,3069;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001852.3:intron;ESP6500_GL=COL9A2;ESP6500_GRCh38_POSITION=1:40311080;ESP6500_GTC=104,1388,5011;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001852.3:c.630+13G>T;ESP6500_MAF=15.4186,6.128,12.2713;ESP6500_TAC=1596,11410;CLINVAR_AF_ESP=0.1227;CLINVAR_AF_EXAC=0.16935;CLINVAR_AF_TGP=0.1781;CLINVAR_ALLELEID=249920;CLINVAR_CLNDISDB=MedGen:CN043640|MedGen:CN169374|MedGen:CN239473;CLINVAR_CLNDN=Multiple_Epiphyseal_Dysplasia,_Dominant|not_specified|Stickler_Syndrome,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.40311080C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:66979;CLINVAR_GENEINFO=COL9A2:1298;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3737815	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1033,90,0
chr1	40312128	rs1979785;258387	T	G	1001.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1979785;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|7/31|c.364-16A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2011;p3_1000G_AF=0.401558;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=17745;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.2167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40777800;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1679,2727;ESP6500_AA_GTC=317,1045,841;ESP6500_CDS_SIZES=NM_001852.3:2070;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=27;ESP6500_EA_AC=1861,6735;ESP6500_EA_GTC=196,1469,2633;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001852.3:intron;ESP6500_GL=COL9A2;ESP6500_GRCh38_POSITION=1:40312128;ESP6500_GTC=513,2514,3474;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001852.3:c.364-16A>C;ESP6500_MAF=21.6496,38.1071,27.2266;ESP6500_TAC=3540,9462;CLINVAR_AF_ESP=0.2723;CLINVAR_AF_EXAC=0.32678;CLINVAR_AF_TGP=0.4016;CLINVAR_ALLELEID=249924;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.40312128T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL9A2:1298;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1979785	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1030,96,0
chr1	40312170	rs209918	A	G	688.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=2.531;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs209918;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|7/31|c.364-58T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2139;p3_1000G_AF=0.427117;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=16998;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40777842;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=590,794;ESP6500_AA_GTC=127,336,229;ESP6500_CDS_SIZES=NM_001852.3:2070;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=31;ESP6500_EA_AC=728,2454;ESP6500_EA_GTC=88,552,951;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001852.3:intron;ESP6500_GL=COL9A2;ESP6500_GRCh38_POSITION=1:40312170;ESP6500_GTC=215,888,1180;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001852.3:c.364-58T>C;ESP6500_MAF=22.8787,42.6301,28.8655;ESP6500_TAC=1318,3248	GT:AD:DP:GQ:PL	1/1:0,20:20:60:717,60,0
chr1	40312212	.	CTT	C	22.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=0;SOR=2.303;DEL;HET;VARTYPE=DEL;ANN=C|intron_variant|MODIFIER|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|7/31|c.364-102_364-101delAA||||||	GT:AD:DP:GQ:PL	0/1:2,2:4:58:60,0,58
chr1	40312705	rs1983658;258385	C	T	521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1983658;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|5/31|c.303+26G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1875;p3_1000G_AF=0.374401;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=17347;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.2137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40778377;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1340,3008;ESP6500_AA_GTC=213,914,1047;ESP6500_CDS_SIZES=NM_001852.3:2070;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=23;ESP6500_EA_AC=1722,6810;ESP6500_EA_GTC=186,1350,2730;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001852.3:intron;ESP6500_GL=COL9A2;ESP6500_GRCh38_POSITION=1:40312705;ESP6500_GTC=399,2264,3777;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001852.3:c.303+26G>A;ESP6500_MAF=20.1828,30.8188,23.7733;ESP6500_TAC=3062,9818;CLINVAR_AF_ESP=0.2377;CLINVAR_AF_EXAC=0.33473;CLINVAR_AF_TGP=0.3744;CLINVAR_ALLELEID=249927;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.40312705C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL9A2:1298;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1983658	GT:AD:DP:GQ:PL	1/1:0,19:19:57:550,57,0
chr1	40315503	rs111700365	CG	C	94.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs111700365;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|2/31|c.150+86delC||||||;p3_1000G_AA=-|G|-|insertion;p3_1000G_AC=2123;p3_1000G_AF=0.423922;p3_1000G_AFR_AF=0.4614;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=14140;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.2227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40781175;p3_1000G_GRCH37_REF=CG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:40315503_CG_C:131,9,0
chr1	40315505	rs115504008	A	C	103.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs115504008;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|COL9A2|COL9A2|transcript|NM_001852.3|protein_coding|2/31|c.150+85T>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=2105;p3_1000G_AF=0.420327;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=13705;p3_1000G_EAS_AF=0.6875;p3_1000G_EUR_AF=0.2227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40781177;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:40315503_CG_C:131,9,0
chr1	40333422	rs3856247	C	T	101.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.77;QD=25.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3856247;dbSNPBuildID=108;ANN=T|intergenic_region|MODIFIER|COL9A2-SMAP2|COL9A2-SMAP2|intergenic_region|COL9A2-SMAP2|||n.40333422C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2065;p3_1000G_AF=0.41234;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=20485;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40799094;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:129,12,0
chr1	40333473	rs1817988	A	G	51.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.89;QD=25.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1817988;dbSNPBuildID=92;ANN=G|intergenic_region|MODIFIER|COL9A2-SMAP2|COL9A2-SMAP2|intergenic_region|COL9A2-SMAP2|||n.40333473A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2343;p3_1000G_AF=0.467851;p3_1000G_AFR_AF=0.5257;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=19409;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40799145;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr1	40333564	rs1826952	C	T	57.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1826952;dbSNPBuildID=92;ANN=T|intergenic_region|MODIFIER|COL9A2-SMAP2|COL9A2-SMAP2|intergenic_region|COL9A2-SMAP2|||n.40333564C>T||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:85,9,0
chr1	40374598	rs10645094	T	TGC	155.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-0.536;SOR=1.022;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10645094;dbSNPBuildID=135;ANN=TGC|upstream_gene_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_001198978.1|protein_coding||c.-98_-97insGC|||||34|,TGC|intron_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_022733.2|protein_coding|1/9|c.103+376_103+377insCG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,7:10:70:193,0,70
chr1	40374626	rs201070867	A	T	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.344;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=5.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.92;ReadPosRankSum=2.23;SOR=1.108;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201070867;dbSNPBuildID=137;ANN=T|upstream_gene_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_001198978.1|protein_coding||c.-70A>T|||||7|,T|intron_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_022733.2|protein_coding|1/9|c.103+403A>T||||||	GT:AD:DP:GQ:PL	0/1:10,6:16:99:123,0,315
chr1	40374681	rs1003710	A	G	571.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.176;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=-1.367;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1003710;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_001198978.1|protein_coding|1/10|c.-15A>G|||||15|,G|intron_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_022733.2|protein_coding|1/9|c.103+458A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2886;p3_1000G_AF=0.576278;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=17662;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40840353;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,20:33:99:600,0,362
chr1	40414136	rs209605	G	T	548.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs209605;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_022733.2|protein_coding|5/9|c.490-23G>T||||||,T|intron_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_001198978.1|protein_coding|5/9|c.400-23G>T||||||,T|intron_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_001198979.1|protein_coding|5/9|c.475-23G>T||||||,T|intron_variant|MODIFIER|SMAP2|SMAP2|transcript|NM_001198980.1|protein_coding|5/9|c.250-23G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4313;p3_1000G_AF=0.861222;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.8199;p3_1000G_AN=5008;p3_1000G_DP=19864;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.8638;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40879808;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4328,78;ESP6500_AA_AGE=68.1+/-105.8;ESP6500_AA_GTC=2129,70,4;ESP6500_CDS_SIZES=NM_022733.2:1290,NM_001198980.1:1050,NM_001198979.1:1275,NM_001198978.1:1200;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=53;ESP6500_EA_AC=7928,672;ESP6500_EA_AGE=168.0+/-219.6;ESP6500_EA_GTC=3680,568,52;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022733.2:intron,NM_001198980.1:intron,NM_001198979.1:intron,NM_001198978.1:intron;ESP6500_GL=SMAP2;ESP6500_GRCh38_POSITION=1:40414136;ESP6500_GTC=5809,638,56;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_022733.2:c.490-23G>T,NM_001198980.1:c.250-23G>T,NM_001198979.1:c.475-23G>T,NM_001198978.1:c.400-23G>T;ESP6500_MAF=7.814,1.7703,5.7666;ESP6500_TAC=12256,750	GT:AD:DP:GQ:PL	1/1:0,18:18:54:577,54,0
chr1	40415369	rs209606	C	G	1362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=1.28;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs209606;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|SMAP2|SMAP2|transcript|NM_022733.2|protein_coding|7/10|c.669C>G|p.Ser223Ser|1084/2930|669/1290|223/429||,G|synonymous_variant|LOW|SMAP2|SMAP2|transcript|NM_001198978.1|protein_coding|7/10|c.579C>G|p.Ser193Ser|642/2488|579/1200|193/399||,G|synonymous_variant|LOW|SMAP2|SMAP2|transcript|NM_001198979.1|protein_coding|7/10|c.654C>G|p.Ser218Ser|726/2572|654/1275|218/424||,G|synonymous_variant|LOW|SMAP2|SMAP2|transcript|NM_001198980.1|protein_coding|7/10|c.429C>G|p.Ser143Ser|657/2503|429/1050|143/349||;p3_1000G_AA=G|||;p3_1000G_AC=4748;p3_1000G_AF=0.948083;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=20718;p3_1000G_EAS_AF=0.9772;p3_1000G_EUR_AF=0.8847;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40881041;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4297,109;ESP6500_AA_AGE=85.8+/-124.5;ESP6500_AA_GTC=2095,107,1;ESP6500_CDS_SIZES=NM_022733.2:1290,NM_001198980.1:1050,NM_001198979.1:1275,NM_001198978.1:1200;ESP6500_CG=-9.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=201;ESP6500_EA_AC=7608,992;ESP6500_EA_AGE=214.3+/-254.0;ESP6500_EA_GTC=3360,888,52;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022733.2:coding-synonymous,NM_001198980.1:coding-synonymous,NM_001198979.1:coding-synonymous,NM_001198978.1:coding-synonymous;ESP6500_GL=SMAP2;ESP6500_GRCh38_POSITION=1:40415369;ESP6500_GTC=5455,995,53;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_022733.2:c.669C>G,NM_001198980.1:c.429C>G,NM_001198979.1:c.654C>G,NM_001198978.1:c.579C>G;ESP6500_HGVS_PROTEIN_VAR=NM_022733.2:p.(S223),NM_001198980.1:p.(S143),NM_001198979.1:p.(S218),NM_001198978.1:p.(S193);ESP6500_MAF=11.5349,2.4739,8.4653;ESP6500_TAC=11905,1101	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1391,135,0
chr1	40457347	rs2272994	G	A	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.393;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=1.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.03;SOR=0.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272994;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|ZFP69B|ZFP69B|transcript|NM_023070.2|protein_coding|4/5|c.344G>A|p.Cys115Tyr|641/2031|344/1605|115/534||;p3_1000G_AA=G|||;p3_1000G_AC=1110;p3_1000G_AF=0.221645;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=20074;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.2366;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40923019;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=278,4128;ESP6500_AA_GTC=6,266,1931;ESP6500_CDS_SIZES=NM_023070.2:1605;ESP6500_CG=1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=98;ESP6500_EA_AC=1873,6727;ESP6500_EA_GTC=221,1431,2648;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_023070.2:missense;ESP6500_GL=ZNF643;ESP6500_GRCh38_POSITION=1:40457347;ESP6500_GS=194;ESP6500_GTC=227,1697,4579;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_023070.2:c.344G>A;ESP6500_HGVS_PROTEIN_VAR=NM_023070.2:p.(C115Y);ESP6500_MAF=21.7791,6.3096,16.5385;ESP6500_PH=benign:0.0;ESP6500_TAC=2151,10855	GT:AD:DP:GQ:PL	0/1:32,24:56:99:592,0,916
chr1	40489685	rs77773735	A	G	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.703;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=0.921;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77773735;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ZFP69|ZFP69|transcript|NM_001320178.1|protein_coding|5/5|c.445+61A>G||||||,G|intron_variant|MODIFIER|ZFP69|ZFP69|transcript|NM_001320179.1|protein_coding|5/5|c.442+61A>G||||||,G|intron_variant|MODIFIER|ZFP69|ZFP69|transcript|NM_198494.2|protein_coding|5/5|c.442+61A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=95;p3_1000G_AF=0.0189696;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=16835;p3_1000G_EAS_AF=0.0784;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40955357;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:68:68,0,163
chr1	40496066	rs75198900	A	G	1447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.059;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=3.742;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.57;SOR=0.413;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75198900;dbSNPBuildID=131;ANN=G|3_prime_UTR_variant|MODIFIER|ZFP69|ZFP69|transcript|NM_001320178.1|protein_coding|6/6|c.*7A>G|||||7|,G|3_prime_UTR_variant|MODIFIER|ZFP69|ZFP69|transcript|NM_001320179.1|protein_coding|6/6|c.*7A>G|||||7|,G|3_prime_UTR_variant|MODIFIER|ZFP69|ZFP69|transcript|NM_198494.2|protein_coding|6/6|c.*7A>G|||||7|;p3_1000G_AA=A|||;p3_1000G_AC=94;p3_1000G_AF=0.01877;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=19857;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40961738;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1,4225;ESP6500_AA_GTC=0,1,2112;ESP6500_CDS_SIZES=NM_198494.2:1581;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=45;ESP6500_EA_AC=6,8508;ESP6500_EA_GTC=0,6,4251;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198494.2:utr-3;ESP6500_GL=ZNF642;ESP6500_GRCh38_POSITION=1:40496066;ESP6500_GTC=0,7,6363;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198494.2:c.*7A>G;ESP6500_MAF=0.0705,0.0237,0.0549;ESP6500_TAC=7,12733	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1476,0,1060
chr1	40515059	rs11208299	G	T	790.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.406;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.443;SOR=0.987;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11208299;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|EXO5|EXO5|transcript|NM_022774.1|protein_coding|3/3|c.515G>T|p.Gly172Val|720/2203|515/1122|172/373||;p3_1000G_AA=T|||;p3_1000G_AC=2715;p3_1000G_AF=0.542133;p3_1000G_AFR_AF=0.6997;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=20246;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.3757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40980731;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2811,1595;ESP6500_AA_AGE=493.4+/-362.7;ESP6500_AA_GTC=897,1017,289;ESP6500_CDS_SIZES=NM_022774.1:1122;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=3196,5404;ESP6500_EA_AGE=651.2+/-400.8;ESP6500_EA_GTC=582,2032,1686;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022774.1:missense;ESP6500_GL=DEM1;ESP6500_GRCh38_POSITION=1:40515059;ESP6500_GS=109;ESP6500_GTC=1479,3049,1975;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_022774.1:c.515G>T;ESP6500_HGVS_PROTEIN_VAR=NM_022774.1:p.(G172V);ESP6500_MAF=37.1628,36.2006,46.1864;ESP6500_PH=benign:0.0;ESP6500_TAC=6007,6999	GT:AD:DP:GQ:PL	0/1:21,31:52:99:819,0,572
chr1	40533230	rs1001400	A	G	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.788;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1001400;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ZNF684|ZNF684|transcript|NM_152373.3|protein_coding|2/4|c.15+49A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1927;p3_1000G_AF=0.384784;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=19433;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.1481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40998902;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1904,2502;ESP6500_AA_AGE=538.7+/-375.1;ESP6500_AA_GTC=384,1136,683;ESP6500_CDS_SIZES=NM_152373.3:1137;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=54;ESP6500_EA_AC=1197,7403;ESP6500_EA_AGE=240.4+/-271.1;ESP6500_EA_GTC=90,1017,3193;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152373.3:intron;ESP6500_GL=ZNF684;ESP6500_GRCh38_POSITION=1:40533230;ESP6500_GTC=474,2153,3876;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152373.3:c.15+49A>G;ESP6500_MAF=13.9186,43.2138,23.8428;ESP6500_TAC=3101,9905	GT:AD:DP:GQ:PL	0/1:13,12:25:99:341,0,321
chr1	40547082	rs80222621	T	C	505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.35;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80222621;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|ZNF684|ZNF684|transcript|NM_152373.3|protein_coding|5/5|c.759T>C|p.Thr253Thr|1010/2097|759/1137|253/378||;p3_1000G_AA=T|||;p3_1000G_AC=79;p3_1000G_AF=0.0157748;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=20832;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41012754;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_152373.3:1137;ESP6500_CG=-3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=54;ESP6500_EA_AC=5,8595;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=0,5,4295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152373.3:coding-synonymous;ESP6500_GL=ZNF684;ESP6500_GRCh38_POSITION=1:40547082;ESP6500_GTC=0,7,6496;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152373.3:c.759T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152373.3:p.(T253);ESP6500_MAF=0.0581,0.0454,0.0538;ESP6500_TAC=7,12999	GT:AD:DP:GQ:PL	0/1:17,18:35:99:534,0,480
chr1	40547343	rs2297755	C	T	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.079;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.307;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=0.091;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297755;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ZNF684|ZNF684|transcript|NM_152373.3|protein_coding|5/5|c.1020C>T|p.Ser340Ser|1271/2097|1020/1137|340/378||;p3_1000G_AA=C|||;p3_1000G_AC=1248;p3_1000G_AF=0.249201;p3_1000G_AFR_AF=0.1082;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=18526;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41013015;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=495,3911;ESP6500_AA_AGE=232.6+/-246.1;ESP6500_AA_GTC=23,449,1731;ESP6500_CDS_SIZES=NM_152373.3:1137;ESP6500_CG=-3.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=95;ESP6500_EA_AC=875,7725;ESP6500_EA_AGE=197.8+/-242.3;ESP6500_EA_GTC=59,757,3484;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152373.3:coding-synonymous;ESP6500_GL=ZNF684;ESP6500_GRCh38_POSITION=1:40547343;ESP6500_GTC=82,1206,5215;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152373.3:c.1020C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152373.3:p.(S340);ESP6500_MAF=10.1744,11.2347,10.5336;ESP6500_TAC=1370,11636	GT:AD:DP:GQ:PL	0/1:26,13:39:99:308,0,740
chr1	40547588	rs2297756	C	T	254.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297756;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|ZNF684|ZNF684|transcript|NM_152373.3|protein_coding|5/5|c.*128C>T|||||128|;p3_1000G_AA=T|||;p3_1000G_AC=2810;p3_1000G_AF=0.561102;p3_1000G_AFR_AF=0.7103;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=15549;p3_1000G_EAS_AF=0.5665;p3_1000G_EUR_AF=0.3748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41013260;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:283,24,0
chr1	40635900	rs2253835	A	G	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.556;SOR=0.861;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2253835;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RIMS3|RIMS3|transcript|NM_014747.2|protein_coding|4/7|c.359+16T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3551;p3_1000G_AF=0.709065;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=14933;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.7922;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41101572;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3985,421;ESP6500_AA_AGE=203.1+/-225.7;ESP6500_AA_GTC=1801,383,19;ESP6500_CDS_SIZES=NM_014747.2:927;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=6855,1745;ESP6500_EA_AGE=315.3+/-312.2;ESP6500_EA_GTC=2748,1359,193;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014747.2:intron;ESP6500_GL=RIMS3;ESP6500_GRCh38_POSITION=1:40635900;ESP6500_GTC=4549,1742,212;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014747.2:c.359+16T>C;ESP6500_MAF=20.2907,9.5552,16.6539;ESP6500_TAC=10840,2166	GT:AD:DP:GQ:PL	0/1:18,15:33:99:369,0,412
chr1	40758336	rs16827552	C	T	452.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.83;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16827552;dbSNPBuildID=123;ANN=T|downstream_gene_variant|MODIFIER|MIR30E|MIR30E|transcript|NR_029846.1|pseudogene||n.*3890C>T|||||3890|,T|downstream_gene_variant|MODIFIER|MIR30C1|MIR30C1|transcript|NR_029833.1|pseudogene||n.*964C>T|||||964|,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308114.1|protein_coding|5/9|c.561+42C>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142587.1|protein_coding|6/9|c.561+42C>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142588.1|protein_coding|6/10|c.561+42C>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142589.1|protein_coding|5/8|c.447+42C>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_014223.4|protein_coding|6/9|c.561+42C>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142590.1|protein_coding|11/14|c.561+42C>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308115.1|protein_coding|6/9|c.561+42C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1459;p3_1000G_AF=0.291334;p3_1000G_AFR_AF=0.0794;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=19817;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41224008;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=431,3957;ESP6500_AA_GTC=17,397,1780;ESP6500_CDS_SIZES=NM_014223.4:1008,NM_001142590.1:906,NM_001142589.1:894,NM_001142588.1:1065,NM_001142587.1:1005;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=15;ESP6500_EA_AC=1819,6781;ESP6500_EA_GTC=208,1403,2689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014223.4:intron,NM_001142590.1:intron,NM_001142589.1:intron,NM_001142588.1:intron,NM_001142587.1:intron;ESP6500_GL=NFYC;ESP6500_GRCh38_POSITION=1:40758336;ESP6500_GTC=225,1800,4469;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014223.4:c.561+42C>T,NM_001142590.1:c.561+42C>T,NM_001142589.1:c.447+42C>T,NM_001142588.1:c.561+42C>T,NM_001142587.1:c.561+42C>T;ESP6500_MAF=21.1512,9.8222,17.3237;ESP6500_TAC=2250,10738	GT:AD:DP:GQ:PL	1/1:0,13:13:39:481,39,0
chr1	40762771	rs3767954	C	G	270.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.7;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3767954;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308114.1|protein_coding|5/9|c.562-117C>G||||||,G|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142587.1|protein_coding|6/9|c.562-117C>G||||||,G|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142588.1|protein_coding|6/10|c.562-117C>G||||||,G|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142589.1|protein_coding|5/8|c.448-117C>G||||||,G|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_014223.4|protein_coding|6/9|c.562-117C>G||||||,G|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142590.1|protein_coding|11/14|c.562-219C>G||||||,G|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308115.1|protein_coding|6/9|c.562-117C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4591;p3_1000G_AF=0.916733;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=19661;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41228443;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:299,21,0
chr1	40763450	rs35262530	G	T	718.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.67;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35262530;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308114.1|protein_coding|6/9|c.720+404G>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142587.1|protein_coding|7/9|c.720+404G>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142588.1|protein_coding|7/10|c.720+404G>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142589.1|protein_coding|6/8|c.606+404G>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_014223.4|protein_coding|7/9|c.720+404G>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142590.1|protein_coding|12/14|c.618+404G>T||||||,T|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308115.1|protein_coding|7/9|c.720+404G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1456;p3_1000G_AF=0.290735;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=14056;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41229122;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:747,84,0
chr1	40763508	rs4660455	G	A	490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4660455;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308114.1|protein_coding|6/9|c.720+462G>A||||||,A|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142587.1|protein_coding|7/9|c.720+462G>A||||||,A|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142588.1|protein_coding|7/10|c.720+462G>A||||||,A|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142589.1|protein_coding|6/8|c.606+462G>A||||||,A|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_014223.4|protein_coding|7/9|c.720+462G>A||||||,A|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142590.1|protein_coding|12/14|c.618+462G>A||||||,A|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308115.1|protein_coding|7/9|c.720+462G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4591;p3_1000G_AF=0.916733;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=14964;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41229180;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:519,42,0
chr1	40766522	rs34212676	T	C	1016.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34212676;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308114.1|protein_coding|6/9|c.721-74T>C||||||,C|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142587.1|protein_coding|7/9|c.721-74T>C||||||,C|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142588.1|protein_coding|7/10|c.721-74T>C||||||,C|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142589.1|protein_coding|6/8|c.607-74T>C||||||,C|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_014223.4|protein_coding|7/9|c.721-74T>C||||||,C|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001142590.1|protein_coding|12/14|c.619-74T>C||||||,C|intron_variant|MODIFIER|NFYC|NFYC|transcript|NM_001308115.1|protein_coding|7/9|c.721-74T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1457;p3_1000G_AF=0.290935;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=20444;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41232194;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1045,90,0
chr1	40817247	rs13374844;259521	C	T	946.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.411;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.079;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.72;ReadPosRankSum=1.85;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13374844;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|1/13|c.315-18C>T||||||,T|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|1/12|c.315-18C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1004;p3_1000G_AF=0.200479;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=20665;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.1561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41282919;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=778,3628;ESP6500_AA_AGE=737.0+/-410.8;ESP6500_AA_GTC=74,630,1499;ESP6500_CDS_SIZES=NM_172163.2:1926,NM_004700.3:2088;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=90;ESP6500_EA_AC=1150,7450;ESP6500_EA_AGE=753.0+/-407.4;ESP6500_EA_GTC=89,972,3239;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172163.2:intron,NM_004700.3:intron;ESP6500_GL=KCNQ4;ESP6500_GRCh38_POSITION=1:40817247;ESP6500_GTC=163,1602,4738;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172163.2:c.315-18C>T,NM_004700.3:c.315-18C>T;ESP6500_MAF=13.3721,17.6577,14.8239;ESP6500_TAC=1928,11078;CLINVAR_AF_ESP=0.1482;CLINVAR_AF_EXAC=0.17543;CLINVAR_AF_TGP=0.2005;CLINVAR_ALLELEID=249929;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.40817247C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNQ4:9132;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13374844	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,25:48:99:0|1:40817247_C_T:975,0,1302
chr1	40817249	rs13374845;259519	C	T	946.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=1.32;SOR=0.605;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13374845;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|1/13|c.315-16C>T||||||,T|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|1/12|c.315-16C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=994;p3_1000G_AF=0.198482;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=20628;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.1561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41282921;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=757,3649;ESP6500_AA_AGE=298.1+/-285.1;ESP6500_AA_GTC=69,619,1515;ESP6500_CDS_SIZES=NM_172163.2:1926,NM_004700.3:2088;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=92;ESP6500_EA_AC=1169,7431;ESP6500_EA_AGE=226.9+/-262.5;ESP6500_EA_GTC=89,991,3220;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172163.2:intron,NM_004700.3:intron;ESP6500_GL=KCNQ4;ESP6500_GRCh38_POSITION=1:40817249;ESP6500_GTC=158,1610,4735;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172163.2:c.315-16C>T,NM_004700.3:c.315-16C>T;ESP6500_MAF=13.593,17.1811,14.8085;ESP6500_TAC=1926,11080;CLINVAR_AF_ESP=0.1481;CLINVAR_AF_EXAC=0.17372;CLINVAR_AF_TGP=0.1985;CLINVAR_ALLELEID=249931;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.40817249C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNQ4:9132;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13374845	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,25:47:99:0|1:40817247_C_T:975,0,1302
chr1	40818447	rs2296838	C	G	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.13;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=7.701;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.531;SOR=0.742;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296838;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|3/13|c.533-58C>G||||||,G|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|3/12|c.533-58C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=999;p3_1000G_AF=0.199481;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=11650;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.1571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41284119;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:323,0,282
chr1	40818518	rs80358273;21424	C	G	732.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=13.624;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.646;SOR=1.923;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80358273;dbSNPBuildID=132;ANN=G|missense_variant|MODERATE|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|4/14|c.546C>G|p.Phe182Leu|628/4099|546/2088|182/695||,G|missense_variant|MODERATE|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|4/13|c.546C>G|p.Phe182Leu|628/3937|546/1926|182/641||;p3_1000G_AA=C|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=11914;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41284190;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00033;CLINVAR_AF_TGP=0.0006;CLINVAR_ALLELEID=34276;CLINVAR_CLNDISDB=MedGen:C2677637,OMIM:600101;CLINVAR_CLNDN=DFNA_2_Nonsyndromic_Hearing_Loss;CLINVAR_CLNHGVS=NC_000001.11:g.40818518C>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Pathogenic;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNQ4:9132;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=80358273	GT:AD:DP:GQ:PL	0/1:21,26:47:99:761,0,432
chr1	40818694	rs2361660;45104	G	C	222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.984;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=12.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.96;SOR=0.031;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2361660;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|4/13|c.708+14G>C||||||,C|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|4/12|c.708+14G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2842;p3_1000G_AF=0.567492;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=10409;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.6978;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41284366;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2636,1688;ESP6500_AA_GTC=824,988,350;ESP6500_CDS_SIZES=NM_172163.2:1926,NM_004700.3:2088;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=8;ESP6500_EA_AC=6244,2270;ESP6500_EA_GTC=2320,1604,333;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172163.2:intron,NM_004700.3:intron;ESP6500_GL=KCNQ4;ESP6500_GRCh38_POSITION=1:40818694;ESP6500_GTC=3144,2592,683;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_172163.2:c.708+14G>C,NM_004700.3:c.708+14G>C;ESP6500_MAF=26.662,39.0379,30.8303;ESP6500_TAC=8880,3958;CLINVAR_ALLELEID=54271;CLINVAR_CLNDISDB=MedGen:C2677637,OMIM:600101|MedGen:CN169374;CLINVAR_CLNDN=DFNA_2_Nonsyndromic_Hearing_Loss|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.40818694G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNQ4:9132;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2361660	GT:AD:DP:GQ:PL	0/1:15,12:27:99:251,0,559
chr1	40818734	rs2361659	A	G	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.512;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.409;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.16;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2361659;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|4/13|c.708+54A>G||||||,G|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|4/12|c.708+54A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2839;p3_1000G_AF=0.566893;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=10531;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41284406;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,7:21:99:157,0,453
chr1	40819415	rs4660468;45105	T	C	556.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.975;SOR=0.736;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660468;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|5/14|c.777T>C|p.Ala259Ala|859/4099|777/2088|259/695||,C|synonymous_variant|LOW|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|5/13|c.777T>C|p.Ala259Ala|859/3937|777/1926|259/641||,C|sequence_feature|LOW|KCNQ4|KCNQ4|topological-domain:Extracellular|NM_004700.3|protein_coding|5/14|c.777T>C||||||,C|sequence_feature|LOW|KCNQ4|KCNQ4|topological-domain:Extracellular|NM_172163.2|protein_coding|5/13|c.777T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2821;p3_1000G_AF=0.563299;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=12798;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.6978;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41285087;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2545,1861;ESP6500_AA_AGE=537.5+/-374.7;ESP6500_AA_GTC=747,1051,405;ESP6500_CDS_SIZES=NM_172163.2:1926,NM_004700.3:2088;ESP6500_CG=-6.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=112;ESP6500_EA_AC=6251,2349;ESP6500_EA_AGE=391.6+/-343.7;ESP6500_EA_GTC=2273,1705,322;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172163.2:coding-synonymous,NM_004700.3:coding-synonymous;ESP6500_GL=KCNQ4;ESP6500_GRCh38_POSITION=1:40819415;ESP6500_GTC=3020,2756,727;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172163.2:c.777T>C,NM_004700.3:c.777T>C;ESP6500_HGVS_PROTEIN_VAR=NM_172163.2:p.(A259),NM_004700.3:p.(A259);ESP6500_MAF=27.314,42.2379,32.3697;ESP6500_TAC=8796,4210;CLINVAR_ALLELEID=54272;CLINVAR_CLNDISDB=MedGen:C2677637,OMIM:600101|MedGen:CN169374;CLINVAR_CLNDN=DFNA_2_Nonsyndromic_Hearing_Loss|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.40819415T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNQ4:9132;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4660468	GT:AD:DP:GQ:PL	0/1:28,24:52:99:585,0,657
chr1	40819913	rs12117176;45107	G	A	580.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.187;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.02;SOR=1.21;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12117176;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|6/14|c.873G>A|p.Pro291Pro|955/4099|873/2088|291/695||,A|synonymous_variant|LOW|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|6/13|c.873G>A|p.Pro291Pro|955/3937|873/1926|291/641||;p3_1000G_AA=G|||;p3_1000G_AC=579;p3_1000G_AF=0.115615;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=19143;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41285585;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=126,4280;ESP6500_AA_AGE=89.7+/-128.4;ESP6500_AA_GTC=3,120,2080;ESP6500_CDS_SIZES=NM_172163.2:1926,NM_004700.3:2088;ESP6500_CG=-11.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=149;ESP6500_EA_AC=731,7869;ESP6500_EA_AGE=168.6+/-220.1;ESP6500_EA_GTC=40,651,3609;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172163.2:coding-synonymous,NM_004700.3:coding-synonymous;ESP6500_GL=KCNQ4;ESP6500_GRCh38_POSITION=1:40819913;ESP6500_GTC=43,771,5689;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_172163.2:c.873G>A,NM_004700.3:c.873G>A;ESP6500_HGVS_PROTEIN_VAR=NM_172163.2:p.(P291),NM_004700.3:p.(P291);ESP6500_MAF=8.5,2.8597,6.5893;ESP6500_TAC=857,12149;CLINVAR_AF_ESP=0.0659;CLINVAR_AF_EXAC=0.10504;CLINVAR_AF_TGP=0.1156;CLINVAR_ALLELEID=54274;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.40819913G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNQ4:9132;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12117176	GT:AD:DP:GQ:PGT:PID:PL	0/1:34,17:51:99:0|1:40819913_G_A:609,0,1893
chr1	40819919	rs12143503;45108	A	G	640.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.095;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.67;SOR=0.954;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12143503;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|6/14|c.879A>G|p.Thr293Thr|961/4099|879/2088|293/695||,G|synonymous_variant|LOW|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|6/13|c.879A>G|p.Thr293Thr|961/3937|879/1926|293/641||,G|sequence_feature|LOW|KCNQ4|KCNQ4|topological-domain:Extracellular|NM_004700.3|protein_coding|6/14|c.879A>G||||||,G|sequence_feature|LOW|KCNQ4|KCNQ4|topological-domain:Extracellular|NM_172163.2|protein_coding|6/13|c.879A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=582;p3_1000G_AF=0.116214;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=19120;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41285591;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=123,4283;ESP6500_AA_AGE=85.3+/-124.0;ESP6500_AA_GTC=3,117,2083;ESP6500_CDS_SIZES=NM_172163.2:1926,NM_004700.3:2088;ESP6500_CG=-11.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=145;ESP6500_EA_AC=709,7891;ESP6500_EA_AGE=156.4+/-210.3;ESP6500_EA_GTC=41,627,3632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172163.2:coding-synonymous,NM_004700.3:coding-synonymous;ESP6500_GL=KCNQ4;ESP6500_GRCh38_POSITION=1:40819919;ESP6500_GTC=44,744,5715;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172163.2:c.879A>G,NM_004700.3:c.879A>G;ESP6500_HGVS_PROTEIN_VAR=NM_172163.2:p.(T293),NM_004700.3:p.(T293);ESP6500_MAF=8.2442,2.7916,6.397;ESP6500_TAC=832,12174;CLINVAR_AF_ESP=0.0640;CLINVAR_AF_EXAC=0.10513;CLINVAR_AF_TGP=0.1162;CLINVAR_ALLELEID=54275;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.40819919A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNQ4:9132;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12143503	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,19:54:99:0|1:40819913_G_A:669,0,1887
chr1	40822443	rs141222961	G	A	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.241;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=-0.489;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141222961;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|8/13|c.1130+41G>A||||||,A|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|8/12|c.1130+41G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=11565;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41288115;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:58:99,0,58
chr1	40824321	rs3767940	T	C	246.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.42;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3767940;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|9/13|c.1292+63T>C||||||,C|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|8/12|c.1130+1919T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1549;p3_1000G_AF=0.309305;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=16389;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.3449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41289993;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:275,27,0
chr1	40832980	rs913378	T	C	1853.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs913378;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_004700.3|protein_coding|10/13|c.1514-34T>C||||||,C|intron_variant|MODIFIER|KCNQ4|KCNQ4|transcript|NM_172163.2|protein_coding|9/12|c.1352-34T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3699;p3_1000G_AF=0.738618;p3_1000G_AFR_AF=0.6815;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=17987;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.6541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41298652;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3028,1378;ESP6500_AA_AGE=453.6+/-350.4;ESP6500_AA_GTC=1049,930,224;ESP6500_CDS_SIZES=NM_172163.2:1926,NM_004700.3:2088;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=63;ESP6500_EA_AC=5681,2919;ESP6500_EA_AGE=452.9+/-363.1;ESP6500_EA_GTC=1915,1851,534;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172163.2:intron,NM_004700.3:intron;ESP6500_GL=KCNQ4;ESP6500_GRCh38_POSITION=1:40832980;ESP6500_GTC=2964,2781,758;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172163.2:c.1352-34T>C,NM_004700.3:c.1514-34T>C;ESP6500_MAF=33.9419,31.2755,33.0386;ESP6500_TAC=8709,4297	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1882,183,0
chr1	40862201	rs12081504	G	C	293.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12081504;dbSNPBuildID=120;ANN=C|5_prime_UTR_variant|MODIFIER|CITED4|CITED4|transcript|NM_133467.2|protein_coding|1/1|c.-74C>G|||||74|;p3_1000G_AA=C|||;p3_1000G_AC=3475;p3_1000G_AF=0.69389;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=6247;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.4573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41327873;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:322,30,0
chr1	40987614	rs397979978;rs5773721	GT	G	208.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.667;SOR=0.473;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5773721;dbSNPBuildID=132,138;ANN=G|upstream_gene_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001301237.1|protein_coding||c.-1009delT|||||833|,G|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001905.3|protein_coding|4/18|c.438+144delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NR_125440.1|pseudogene|4/17|n.982+144delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=T|TT|T|insertion;p3_1000G_AC=4453;p3_1000G_AF=0.889177;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=21849;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.9453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41453286;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,8:18:99:246,0,320
chr1	40995841	rs12047657	G	C	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.691;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=0.238;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12047657;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001905.3|protein_coding|7/18|c.721-76G>C||||||,C|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NR_125440.1|pseudogene|7/17|n.1265-76G>C||||||,C|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001301237.1|protein_coding|3/14|c.253-76G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=657;p3_1000G_AF=0.13119;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=19698;p3_1000G_EAS_AF=0.2679;p3_1000G_EUR_AF=0.1074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41461513;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:94:234,0,94
chr1	40997314	rs12047078	T	C	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.45;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-1.302;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12047078;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001905.3|protein_coding|8/18|c.873-80T>C||||||,C|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NR_125440.1|pseudogene|8/17|n.1417-80T>C||||||,C|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001301237.1|protein_coding|4/14|c.405-80T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=662;p3_1000G_AF=0.132188;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=19984;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.1074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41462986;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:328,0,464
chr1	41001131	rs12718433;402571	G	A	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.949;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.38;ReadPosRankSum=-0.135;SOR=0.557;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12718433;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001905.3|protein_coding|10/18|c.1094+14G>A||||||,A|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NR_125440.1|pseudogene|10/17|n.1638+14G>A||||||,A|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001301237.1|protein_coding|6/14|c.626+14G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1668;p3_1000G_AF=0.333067;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=15226;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.4066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41466803;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=775,3631;ESP6500_AA_AGE=752.2+/-412.3;ESP6500_AA_GTC=70,635,1498;ESP6500_CDS_SIZES=NM_001905.2:1776;ESP6500_CG=-10.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=52;ESP6500_EA_AC=3559,5041;ESP6500_EA_AGE=627.2+/-397.9;ESP6500_EA_GTC=750,2059,1491;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001905.2:intron;ESP6500_GL=CTPS1;ESP6500_GRCh38_POSITION=1:41001131;ESP6500_GTC=820,2694,2989;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001905.2:c.1094+14G>A;ESP6500_MAF=41.3837,17.5897,33.3231;ESP6500_TAC=4334,8672;CLINVAR_ALLELEID=389436;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.41001131G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CTPS1:1503;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12718433	GT:AD:DP:GQ:PL	0/1:8,7:15:99:124,0,201
chr1	41008728	rs35044078	C	G	584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.492;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.429;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.324;SOR=0.654;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35044078;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001905.3|protein_coding|15/18|c.1449+14C>G||||||,G|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001301237.1|protein_coding|11/14|c.981+14C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CTPS1|CTPS1|transcript|NR_125440.1|pseudogene|15/18|n.2007C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=666;p3_1000G_AF=0.132987;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=19825;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.1074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41474400;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=130,4276;ESP6500_AA_AGE=93.4+/-132.2;ESP6500_AA_GTC=2,126,2075;ESP6500_CDS_SIZES=NM_001905.2:1776;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=106;ESP6500_EA_AC=938,7662;ESP6500_EA_AGE=206.9+/-248.8;ESP6500_EA_GTC=56,826,3418;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001905.2:intron;ESP6500_GL=CTPS1;ESP6500_GRCh38_POSITION=1:41008728;ESP6500_GTC=58,952,5493;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001905.2:c.1449+14C>G;ESP6500_MAF=10.907,2.9505,8.2116;ESP6500_TAC=1068,11938	GT:AD:DP:GQ:PL	0/1:26,24:50:99:613,0,658
chr1	41009413	rs12144160	A	G	1213.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.72;SOR=1.949;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12144160;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001905.3|protein_coding|16/18|c.1547-32A>G||||||,G|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NR_125440.1|pseudogene|15/17|n.2170-32A>G||||||,G|intron_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001301237.1|protein_coding|12/14|c.1079-32A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2343;p3_1000G_AF=0.467851;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=21044;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.5507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41475085;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5225;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1220,3186;ESP6500_AA_AGE=422.5+/-339.8;ESP6500_AA_GTC=172,876,1155;ESP6500_CDS_SIZES=NM_001905.2:1776;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=92;ESP6500_EA_AC=4794,3806;ESP6500_EA_AGE=612.8+/-396.0;ESP6500_EA_GTC=1321,2152,827;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001905.2:intron;ESP6500_GL=CTPS1;ESP6500_GRCh38_POSITION=1:41009413;ESP6500_GTC=1493,3028,1982;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001905.2:c.1547-32A>G;ESP6500_MAF=44.2558,27.6895,46.2402;ESP6500_TAC=6014,6992	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1242,108,0
chr1	41015924	rs41308248	A	G	338.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.89;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.682;SOR=1.942;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41308248;dbSNPBuildID=127;ANN=G|3_prime_UTR_variant|MODIFIER|SLFNL1|SLFNL1|transcript|NM_001168247.2|protein_coding|6/6|c.*182T>C|||||182|,G|3_prime_UTR_variant|MODIFIER|SLFNL1|SLFNL1|transcript|NM_001300859.1|protein_coding|6/6|c.*182T>C|||||182|,G|3_prime_UTR_variant|MODIFIER|SLFNL1|SLFNL1|transcript|NM_144990.3|protein_coding|5/5|c.*182T>C|||||182|,G|downstream_gene_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001905.3|protein_coding||c.*5679A>G|||||3359|,G|downstream_gene_variant|MODIFIER|CTPS1|CTPS1|transcript|NR_125440.1|pseudogene||n.*3359A>G|||||3359|,G|downstream_gene_variant|MODIFIER|CTPS1|CTPS1|transcript|NM_001301237.1|protein_coding||c.*5679A>G|||||3359|,G|non_coding_transcript_exon_variant|MODIFIER|SLFNL1-AS1|SLFNL1-AS1|transcript|NR_037868.1|pseudogene|1/4|n.1335A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=613;p3_1000G_AF=0.122404;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=19819;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.1372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41481596;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:367,0,288
chr1	41020736	rs3738369	G	A	21.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.045;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=0.319;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738369;dbSNPBuildID=107;ANN=A|5_prime_UTR_variant|MODIFIER|SLFNL1|SLFNL1|transcript|NM_001168247.2|protein_coding|3/6|c.-76C>T|||||76|,A|5_prime_UTR_variant|MODIFIER|SLFNL1|SLFNL1|transcript|NM_001300859.1|protein_coding|3/6|c.-76C>T|||||76|,A|5_prime_UTR_variant|MODIFIER|SLFNL1|SLFNL1|transcript|NM_144990.3|protein_coding|2/5|c.-76C>T|||||76|,A|intron_variant|MODIFIER|SLFNL1-AS1|SLFNL1-AS1|transcript|NR_037868.1|pseudogene|1/3|n.3812+2335G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=682;p3_1000G_AF=0.136182;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=17217;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.1083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41486408;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:50:50,0,183
chr1	41028112	rs41301074	C	G	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.336;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.129;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41301074;dbSNPBuildID=127;ANN=G|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001031694.2|protein_coding|16/16|c.*82G>C|||||82|,G|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172222.2|protein_coding|11/11|c.*82G>C|||||82|,G|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172221.1|protein_coding|15/15|c.*82G>C|||||82|,G|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172218.1|protein_coding|16/16|c.*82G>C|||||82|,G|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172219.1|protein_coding|15/15|c.*82G>C|||||82|,G|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172220.1|protein_coding|14/14|c.*82G>C|||||82|,G|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_012236.3|protein_coding|15/15|c.*82G>C|||||82|,G|intron_variant|MODIFIER|SLFNL1-AS1|SLFNL1-AS1|transcript|NR_037868.1|pseudogene|1/3|n.3813-421C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|SCMH1|SCMH1|transcript|NR_135092.1|pseudogene|16/16|n.2488G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=314;p3_1000G_AF=0.0626997;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=15551;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41493784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:165,0,339
chr1	41028139	rs1140227	C	T	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.501;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.471;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1140227;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001031694.2|protein_coding|16/16|c.*55G>A|||||55|,T|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172222.2|protein_coding|11/11|c.*55G>A|||||55|,T|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172221.1|protein_coding|15/15|c.*55G>A|||||55|,T|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172218.1|protein_coding|16/16|c.*55G>A|||||55|,T|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172219.1|protein_coding|15/15|c.*55G>A|||||55|,T|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172220.1|protein_coding|14/14|c.*55G>A|||||55|,T|3_prime_UTR_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_012236.3|protein_coding|15/15|c.*55G>A|||||55|,T|intron_variant|MODIFIER|SLFNL1-AS1|SLFNL1-AS1|transcript|NR_037868.1|pseudogene|1/3|n.3813-394C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|SCMH1|SCMH1|transcript|NR_135092.1|pseudogene|16/16|n.2461G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=670;p3_1000G_AF=0.133786;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=16645;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.1074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41493811;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:241,0,311
chr1	41028550	rs11578697	G	T	1389.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.455;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11578697;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001031694.2|protein_coding|15/15|c.1857+34C>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172222.2|protein_coding|10/10|c.1317+34C>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NR_135092.1|pseudogene|15/15|n.2280+34C>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172221.1|protein_coding|14/14|c.1674+34C>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172218.1|protein_coding|15/15|c.1608+34C>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172219.1|protein_coding|14/14|c.1821+34C>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172220.1|protein_coding|13/13|c.1608+34C>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_012236.3|protein_coding|14/14|c.1650+34C>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|SLFNL1-AS1|SLFNL1-AS1|transcript|NR_037868.1|pseudogene|2/4|n.3830G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2123;p3_1000G_AF=0.423922;p3_1000G_AFR_AF=0.1687;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=20974;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41494222;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1016,3390;ESP6500_AA_AGE=722.8+/-409.3;ESP6500_AA_GTC=115,786,1302;ESP6500_CDS_SIZES=NM_012236.3:1776,NM_001172222.1:1443,NM_001172221.1:1800,NM_001172220.1:1734,NM_001172219.1:1947,NM_001172218.1:1734,NM_001031694.2:1983;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=95;ESP6500_EA_AC=4209,4391;ESP6500_EA_AGE=579.9+/-391.0;ESP6500_EA_GTC=1019,2171,1110;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012236.3:intron,NM_001172222.1:intron,NM_001172221.1:intron,NM_001172220.1:intron,NM_001172219.1:intron,NM_001172218.1:intron,NM_001031694.2:intron;ESP6500_GL=SCMH1;ESP6500_GRCh38_POSITION=1:41028550;ESP6500_GTC=1134,2957,2412;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_012236.3:c.1650+34C>A,NM_001172222.1:c.1317+34C>A,NM_001172221.1:c.1674+34C>A,NM_001172220.1:c.1608+34C>A,NM_001172219.1:c.1821+34C>A,NM_001172218.1:c.1608+34C>A,NM_001031694.2:c.1857+34C>A;ESP6500_MAF=48.9419,23.0595,40.1738;ESP6500_TAC=5225,7781	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1418,129,0
chr1	41075181	rs2011981	A	T	1211.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2011981;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001031694.2|protein_coding|9/15|c.948+38T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172222.2|protein_coding|5/10|c.474+38T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NR_135092.1|pseudogene|9/15|n.1317+38T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172221.1|protein_coding|8/14|c.765+38T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172218.1|protein_coding|10/15|c.765+38T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172219.1|protein_coding|9/14|c.978+38T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172220.1|protein_coding|8/13|c.765+38T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_012236.3|protein_coding|9/14|c.807+38T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4553;p3_1000G_AF=0.909145;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=16627;p3_1000G_EAS_AF=0.9504;p3_1000G_EUR_AF=0.7992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41540853;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4172,234;ESP6500_AA_AGE=137.7+/-173.5;ESP6500_AA_GTC=1975,222,6;ESP6500_CDS_SIZES=NM_012236.3:1776,NM_001172222.1:1443,NM_001172221.1:1800,NM_001172220.1:1734,NM_001172219.1:1947,NM_001172218.1:1734,NM_001031694.2:1983;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=80;ESP6500_EA_AC=6740,1860;ESP6500_EA_AGE=331.1+/-319.5;ESP6500_EA_GTC=2653,1434,213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012236.3:intron,NM_001172222.1:intron,NM_001172221.1:intron,NM_001172220.1:intron,NM_001172219.1:intron,NM_001172218.1:intron,NM_001031694.2:intron;ESP6500_GL=SCMH1;ESP6500_GRCh38_POSITION=1:41075181;ESP6500_GTC=4628,1656,219;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_012236.3:c.807+38T>A,NM_001172222.1:c.474+38T>A,NM_001172221.1:c.765+38T>A,NM_001172220.1:c.765+38T>A,NM_001172219.1:c.978+38T>A,NM_001172218.1:c.765+38T>A,NM_001031694.2:c.948+38T>A;ESP6500_MAF=21.6279,5.3109,16.1003;ESP6500_TAC=10912,2094	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:84:1|1:41075181_A_T:1240,84,0
chr1	41075189	rs2011982	T	C	1327.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2011982;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001031694.2|protein_coding|9/15|c.948+30A>G||||||,C|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172222.2|protein_coding|5/10|c.474+30A>G||||||,C|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NR_135092.1|pseudogene|9/15|n.1317+30A>G||||||,C|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172221.1|protein_coding|8/14|c.765+30A>G||||||,C|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172218.1|protein_coding|10/15|c.765+30A>G||||||,C|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172219.1|protein_coding|9/14|c.978+30A>G||||||,C|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172220.1|protein_coding|8/13|c.765+30A>G||||||,C|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_012236.3|protein_coding|9/14|c.807+30A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4562;p3_1000G_AF=0.910942;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=16622;p3_1000G_EAS_AF=0.9524;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41540861;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4192,214;ESP6500_AA_AGE=127.8+/-164.7;ESP6500_AA_GTC=1994,204,5;ESP6500_CDS_SIZES=NM_012236.3:1776,NM_001172222.1:1443,NM_001172221.1:1800,NM_001172220.1:1734,NM_001172219.1:1947,NM_001172218.1:1734,NM_001031694.2:1983;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=91;ESP6500_EA_AC=6736,1864;ESP6500_EA_AGE=325.2+/-316.8;ESP6500_EA_GTC=2653,1430,217;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012236.3:intron,NM_001172222.1:intron,NM_001172221.1:intron,NM_001172220.1:intron,NM_001172219.1:intron,NM_001172218.1:intron,NM_001031694.2:intron;ESP6500_GL=SCMH1;ESP6500_GRCh38_POSITION=1:41075189;ESP6500_GTC=4647,1634,222;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012236.3:c.807+30A>G,NM_001172222.1:c.474+30A>G,NM_001172221.1:c.765+30A>G,NM_001172220.1:c.765+30A>G,NM_001172219.1:c.978+30A>G,NM_001172218.1:c.765+30A>G,NM_001031694.2:c.948+30A>G;ESP6500_MAF=21.6744,4.857,15.9772;ESP6500_TAC=10928,2078	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:96:1|1:41075181_A_T:1356,96,0
chr1	41152770	rs213768	A	T	255.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.58;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs213768;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001031694.2|protein_coding|3/15|c.-67-29T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172222.2|protein_coding|3/10|c.6+6955T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NR_135092.1|pseudogene|3/15|n.303-29T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172221.1|protein_coding|3/14|c.-107-1086T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172218.1|protein_coding|5/15|c.-107-1086T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172219.1|protein_coding|4/14|c.107-1086T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172220.1|protein_coding|4/13|c.-37+8105T>A||||||,T|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_012236.3|protein_coding|5/14|c.6+6955T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=19500;p3_1000G_EAS_AF=0.9524;p3_1000G_EUR_AF=0.8002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41618442;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:284,30,0
chr1	41186280	rs12408956	G	A	105.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.718;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.842;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12408956;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172218.1|protein_coding|1/15|c.-539-30C>T||||||,A|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172219.1|protein_coding|1/14|c.-117-30C>T||||||,A|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_001172220.1|protein_coding|1/13|c.-259-30C>T||||||,A|intron_variant|MODIFIER|SCMH1|SCMH1|transcript|NM_012236.3|protein_coding|1/14|c.-426-30C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=673;p3_1000G_AF=0.134385;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=18570;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41651952;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:134,0,105
chr1	41483924	rs2759256	G	A	1810.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=2.701;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2759256;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EDN2|EDN2|transcript|NM_001956.4|protein_coding|2/4|c.221+123C>T||||||,A|intron_variant|MODIFIER|EDN2|EDN2|transcript|NM_001302269.1|protein_coding|2/3|c.221+123C>T||||||,A|intron_variant|MODIFIER|EDN2|EDN2|transcript|NR_126098.1|pseudogene|2/4|n.212+123C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4984;p3_1000G_AF=0.995208;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16847;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41949595;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1839,150,0
chr1	41483957	rs2759257	A	C	2136.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2759257;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EDN2|EDN2|transcript|NM_001956.4|protein_coding|2/4|c.221+90T>G||||||,C|intron_variant|MODIFIER|EDN2|EDN2|transcript|NM_001302269.1|protein_coding|2/3|c.221+90T>G||||||,C|intron_variant|MODIFIER|EDN2|EDN2|transcript|NR_126098.1|pseudogene|2/4|n.212+90T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4123;p3_1000G_AF=0.823283;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=16319;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.8748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41949628;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2165,189,0
chr1	41484641	rs2984691	T	C	481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2984691;dbSNPBuildID=101;ANN=C|5_prime_UTR_variant|MODIFIER|EDN2|EDN2|transcript|NM_001956.4|protein_coding|1/5|c.-40A>G|||||40|,C|5_prime_UTR_variant|MODIFIER|EDN2|EDN2|transcript|NM_001302269.1|protein_coding|1/4|c.-40A>G|||||40|,C|non_coding_transcript_exon_variant|MODIFIER|EDN2|EDN2|transcript|NR_126098.1|pseudogene|1/5|n.43A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4492;p3_1000G_AF=0.896965;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.9481;p3_1000G_AN=5008;p3_1000G_DP=16540;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.9493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41950312;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3764,490;ESP6500_AA_GTC=1661,442,24;ESP6500_CDS_SIZES=NM_001956.3:537;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=42;ESP6500_EA_AC=7824,480;ESP6500_EA_GTC=3685,454,13;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001956.3:utr-5;ESP6500_GL=EDN2;ESP6500_GRCh38_POSITION=1:41484641;ESP6500_GTC=5346,896,37;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001956.3:c.-40A>G;ESP6500_MAF=5.7803,11.5186,7.7242;ESP6500_TAC=11588,970	GT:AD:DP:GQ:PL	1/1:0,16:16:48:510,48,0
chr1	41510346	rs678110	C	T	1120.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.74;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs678110;dbSNPBuildID=83;ANN=T|3_prime_UTR_variant|MODIFIER|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|9/9|c.*105G>A|||||105|,T|3_prime_UTR_variant|MODIFIER|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|8/8|c.*105G>A|||||105|;p3_1000G_AA=C|||;p3_1000G_AC=3142;p3_1000G_AF=0.627396;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=16897;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.5358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41976017;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1149,116,0
chr1	41510657	rs9439043;402941	T	C	356.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9439043;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|9/9|c.7015A>G|p.Thr2339Ala|8110/12402|7015/7221|2339/2406||,C|missense_variant|MODERATE|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|8/8|c.7012A>G|p.Thr2338Ala|8027/12319|7012/7218|2338/2405||;p3_1000G_AA=C|||;p3_1000G_AC=4823;p3_1000G_AF=0.963059;p3_1000G_AFR_AF=0.8669;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=11687;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41976328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3684,344;ESP6500_AA_GTC=1677,330,7;ESP6500_CDS_SIZES=NM_024503.4:7221,NM_001127714.2:7218;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=6;ESP6500_EA_AC=7782,22;ESP6500_EA_GTC=3880,22,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024503.4:missense,NM_001127714.2:missense;ESP6500_GL=HIVEP3;ESP6500_GRCh38_POSITION=1:41510657;ESP6500_GS=58,58;ESP6500_GTC=5557,352,7;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024503.4:c.7015A>G,NM_001127714.2:c.7012A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024503.4:p.(T2339A),NM_001127714.2:p.(T2338A);ESP6500_MAF=0.2819,8.5402,3.0933;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11466,366;CLINVAR_ALLELEID=389395;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.41510657T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HIVEP3:59269;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9439043	GT:AD:DP:GQ:PL	1/1:0,10:10:30:385,30,0
chr1	41512688	rs2984693	G	T	241.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2984693;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|8/8|c.6405+128C>A||||||,T|intron_variant|MODIFIER|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|7/7|c.6405+128C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4835;p3_1000G_AF=0.965455;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=19069;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41978359;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:270,21,0
chr1	41512895	rs2991344	T	G	742.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.41;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2991344;dbSNPBuildID=101;ANN=G|missense_variant|MODERATE|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|8/9|c.6326A>C|p.Asp2109Ala|7421/12402|6326/7221|2109/2406||,G|missense_variant|MODERATE|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|7/8|c.6326A>C|p.Asp2109Ala|7341/12319|6326/7218|2109/2405||;ESP6500_AA=G;ESP6500_AA_AC=4289,59;ESP6500_AA_GTC=2115,59,0;ESP6500_CDS_SIZES=NM_024503.4:7221,NM_001127714.2:7218;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=13;ESP6500_EA_AC=8486,0;ESP6500_EA_GTC=4243,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024503.4:missense,NM_001127714.2:missense;ESP6500_GL=HIVEP3;ESP6500_GRCh38_POSITION=1:41512895;ESP6500_GS=126,126;ESP6500_GTC=6358,59,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_024503.4:c.6326A>C,NM_001127714.2:c.6326A>C;ESP6500_HGVS_PROTEIN_VAR=NM_024503.4:p.(D2109A),NM_001127714.2:p.(D2109A);ESP6500_MAF=0.0,1.3569,0.4597;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12775,59	GT:AD:DP:GQ:PL	1/1:0,20:20:60:771,60,0
chr1	41513154	rs2483689	C	G	1177.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2483689;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|8/9|c.6067G>C|p.Ala2023Pro|7162/12402|6067/7221|2023/2406||,G|missense_variant|MODERATE|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|7/8|c.6067G>C|p.Ala2023Pro|7082/12319|6067/7218|2023/2405||;p3_1000G_AA=G|||;p3_1000G_AC=4979;p3_1000G_AF=0.994209;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17359;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41978825;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4338,68;ESP6500_AA_AGE=58.1+/-94.6;ESP6500_AA_GTC=2136,66,1;ESP6500_CDS_SIZES=NM_024503.4:7221,NM_001127714.2:7218;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024503.4:missense,NM_001127714.2:missense;ESP6500_GL=HIVEP3;ESP6500_GRCh38_POSITION=1:41513154;ESP6500_GS=27,27;ESP6500_GTC=6436,66,1;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024503.4:c.6067G>C,NM_001127714.2:c.6067G>C;ESP6500_HGVS_PROTEIN_VAR=NM_024503.4:p.(A2023P),NM_001127714.2:p.(A2023P);ESP6500_MAF=0.0,1.5433,0.5228;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12938,68	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1206,117,0
chr1	41513485	rs615177;402943	A	G	935.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.59;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs615177;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|8/9|c.5736T>C|p.Ala1912Ala|6831/12402|5736/7221|1912/2406||,G|synonymous_variant|LOW|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|7/8|c.5736T>C|p.Ala1912Ala|6751/12319|5736/7218|1912/2405||;p3_1000G_AA=A|||;p3_1000G_AC=3678;p3_1000G_AF=0.734425;p3_1000G_AFR_AF=0.6604;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=16821;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.5835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41979156;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2858,1510;ESP6500_AA_GTC=968,922,294;ESP6500_CDS_SIZES=NM_024503.4:7221,NM_001127714.2:7218;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=16;ESP6500_EA_AC=5169,3375;ESP6500_EA_GTC=1631,1907,734;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024503.4:coding-synonymous,NM_001127714.2:coding-synonymous;ESP6500_GL=HIVEP3;ESP6500_GRCh38_POSITION=1:41513485;ESP6500_GTC=2599,2829,1028;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024503.4:c.5736T>C,NM_001127714.2:c.5736T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024503.4:p.(A1912),NM_001127714.2:p.(A1912);ESP6500_MAF=39.5014,34.5696,37.833;ESP6500_TAC=8027,4885;CLINVAR_ALLELEID=389444;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.41513485A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HIVEP3:59269;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=615177	GT:AD:DP:GQ:PL	1/1:0,24:24:72:964,72,0
chr1	41581141	rs2810565;402945	C	T	571.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.59;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2810565;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|4/9|c.3657G>A|p.Gln1219Gln|4752/12402|3657/7221|1219/2406||,T|synonymous_variant|LOW|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|3/8|c.3657G>A|p.Gln1219Gln|4672/12319|3657/7218|1219/2405||;p3_1000G_AA=c|||;p3_1000G_AC=4894;p3_1000G_AF=0.977236;p3_1000G_AFR_AF=0.9175;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18690;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42046812;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4133,273;ESP6500_AA_AGE=800.8+/-415.6;ESP6500_AA_GTC=1935,263,5;ESP6500_CDS_SIZES=NM_024503.4:7221,NM_001127714.2:7218;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=69;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=819.2+/-406.8;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024503.4:coding-synonymous,NM_001127714.2:coding-synonymous;ESP6500_GL=HIVEP3;ESP6500_GRCh38_POSITION=1:41581141;ESP6500_GTC=6234,264,5;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024503.4:c.3657G>A,NM_001127714.2:c.3657G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024503.4:p.(Q1219),NM_001127714.2:p.(Q1219);ESP6500_MAF=0.0116,6.1961,2.1067;ESP6500_TAC=12732,274;CLINVAR_ALLELEID=389445;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.41581141C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HIVEP3:59269;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2810565	GT:AD:DP:GQ:PL	1/1:0,20:20:59:600,59,0
chr1	41583074	rs2810566	T	C	1226.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=1.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2810566;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|4/9|c.1724A>G|p.His575Arg|2819/12402|1724/7221|575/2406||,C|missense_variant|MODERATE|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|3/8|c.1724A>G|p.His575Arg|2739/12319|1724/7218|575/2405||;p3_1000G_AA=C|||;p3_1000G_AC=4948;p3_1000G_AF=0.988019;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=14509;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42048745;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4261,145;ESP6500_AA_AGE=102.5+/-141.1;ESP6500_AA_GTC=2059,143,1;ESP6500_CDS_SIZES=NM_024503.4:7221,NM_001127714.2:7218;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024503.4:missense,NM_001127714.2:missense;ESP6500_GL=HIVEP3;ESP6500_GRCh38_POSITION=1:41583074;ESP6500_GS=29,29;ESP6500_GTC=6359,143,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024503.4:c.1724A>G,NM_001127714.2:c.1724A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024503.4:p.(H575R),NM_001127714.2:p.(H575R);ESP6500_MAF=0.0,3.291,1.1149;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12861,145	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1255,117,0
chr1	41583361	rs2984694;402946	G	A	1116.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2984694;dbSNPBuildID=101;ANN=A|synonymous_variant|LOW|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|4/9|c.1437C>T|p.Ser479Ser|2532/12402|1437/7221|479/2406||,A|synonymous_variant|LOW|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|3/8|c.1437C>T|p.Ser479Ser|2452/12319|1437/7218|479/2405||;p3_1000G_AA=G|||;p3_1000G_AC=4754;p3_1000G_AF=0.949281;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=15830;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42049032;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3824,582;ESP6500_AA_AGE=771.7+/-413.8;ESP6500_AA_GTC=1665,494,44;ESP6500_CDS_SIZES=NM_024503.4:7221,NM_001127714.2:7218;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=77;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=819.1+/-406.8;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024503.4:coding-synonymous,NM_001127714.2:coding-synonymous;ESP6500_GL=HIVEP3;ESP6500_GRCh38_POSITION=1:41583361;ESP6500_GTC=5961,498,44;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024503.4:c.1437C>T,NM_001127714.2:c.1437C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024503.4:p.(S479),NM_001127714.2:p.(S479);ESP6500_MAF=0.0465,13.2093,4.5056;ESP6500_TAC=12420,586;CLINVAR_ALLELEID=389449;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.41583361G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HIVEP3:59269;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2984694	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1145,111,0
chr1	41583469	rs2475842;402947	C	G	2076.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.569;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2475842;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|HIVEP3|HIVEP3|transcript|NM_024503.4|protein_coding|4/9|c.1329G>C|p.Leu443Leu|2424/12402|1329/7221|443/2406||,G|synonymous_variant|LOW|HIVEP3|HIVEP3|transcript|NM_001127714.2|protein_coding|3/8|c.1329G>C|p.Leu443Leu|2344/12319|1329/7218|443/2405||;p3_1000G_AA=C|||;p3_1000G_AC=4754;p3_1000G_AF=0.949281;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=16239;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42049140;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3825,581;ESP6500_AA_AGE=771.4+/-413.8;ESP6500_AA_GTC=1666,493,44;ESP6500_CDS_SIZES=NM_024503.4:7221,NM_001127714.2:7218;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=53;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=818.8+/-406.8;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024503.4:coding-synonymous,NM_001127714.2:coding-synonymous;ESP6500_GL=HIVEP3;ESP6500_GRCh38_POSITION=1:41583469;ESP6500_GTC=5962,497,44;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024503.4:c.1329G>C,NM_001127714.2:c.1329G>C;ESP6500_HGVS_PROTEIN_VAR=NM_024503.4:p.(L443),NM_001127714.2:p.(L443);ESP6500_MAF=0.0465,13.1866,4.4979;ESP6500_TAC=12421,585;CLINVAR_ALLELEID=389454;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.41583469C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HIVEP3:59269;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2475842	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2105,171,0
chr1	42153468	rs1047047	A	G	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.843;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-1.834;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1047047;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|GUCA2B|GUCA2B|transcript|NM_007102.2|protein_coding|1/3|c.18A>G|p.Ala6Ala|48/597|18/339|6/112||;p3_1000G_AA=G|||;p3_1000G_AC=1580;p3_1000G_AF=0.315495;p3_1000G_AFR_AF=0.4614;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=16480;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42619139;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1701,2705;ESP6500_AA_AGE=646.7+/-398.4;ESP6500_AA_GTC=320,1061,822;ESP6500_CDS_SIZES=NM_007102.2:339;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=60;ESP6500_EA_AC=1298,7302;ESP6500_EA_AGE=754.4+/-407.5;ESP6500_EA_GTC=81,1136,3083;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007102.2:coding-synonymous;ESP6500_GL=GUCA2B;ESP6500_GRCh38_POSITION=1:42153468;ESP6500_GTC=401,2197,3905;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007102.2:c.18A>G;ESP6500_HGVS_PROTEIN_VAR=NM_007102.2:p.(A6);ESP6500_MAF=15.093,38.6064,23.0586;ESP6500_TAC=2999,10007	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,18:25:99:0|1:42153468_A_G:414,0,240
chr1	42153481	rs2297567	C	A	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.522;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=0.414;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297567;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|GUCA2B|GUCA2B|transcript|NM_007102.2|protein_coding|1/3|c.31C>A|p.Pro11Thr|61/597|31/339|11/112||;p3_1000G_AA=C|||;p3_1000G_AC=897;p3_1000G_AF=0.179113;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=16915;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42619152;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=731,3675;ESP6500_AA_AGE=298.1+/-285.1;ESP6500_AA_GTC=59,613,1531;ESP6500_CDS_SIZES=NM_007102.2:339;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=1624,6976;ESP6500_EA_AGE=297.9+/-303.7;ESP6500_EA_GTC=164,1296,2840;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007102.2:missense;ESP6500_GL=GUCA2B;ESP6500_GRCh38_POSITION=1:42153481;ESP6500_GS=38;ESP6500_GTC=223,1909,4371;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_007102.2:c.31C>A;ESP6500_HGVS_PROTEIN_VAR=NM_007102.2:p.(P11T);ESP6500_MAF=18.8837,16.591,18.107;ESP6500_PH=benign:0.0;ESP6500_TAC=2355,10651	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,9:27:99:1|0:42153468_A_G:183,0,723
chr1	42155654	rs2274919	T	C	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=3.02;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274919;dbSNPBuildID=100;ANN=C|3_prime_UTR_variant|MODIFIER|GUCA2B|GUCA2B|transcript|NM_007102.2|protein_coding|3/3|c.*58T>C|||||58|;p3_1000G_AA=T|||;p3_1000G_AC=193;p3_1000G_AF=0.0385383;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=18497;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42621325;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=23,1361;ESP6500_AA_GTC=1,21,670;ESP6500_CDS_SIZES=NM_007102.2:339;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=22,3160;ESP6500_EA_GTC=0,22,1569;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007102.2:utr-3;ESP6500_GL=GUCA2B;ESP6500_GRCh38_POSITION=1:42155654;ESP6500_GTC=1,43,2239;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007102.2:c.*58T>C;ESP6500_MAF=0.6914,1.6618,0.9855;ESP6500_TAC=45,4521	GT:AD:DP:GQ:PL	0/1:30,26:56:99:638,0,723
chr1	42163369	rs2232224	A	G	587.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2232224;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|GUCA2A|GUCA2A|transcript|NM_033553.2|protein_coding|2/2|c.283+34T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4592;p3_1000G_AF=0.916933;p3_1000G_AFR_AF=0.6952;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18391;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42629040;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3327,1077;ESP6500_AA_AGE=371.2+/-319.9;ESP6500_AA_GTC=1253,821,128;ESP6500_CDS_SIZES=NM_033553.2:348;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=29;ESP6500_EA_AC=8589,11;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=4289,11,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033553.2:intron;ESP6500_GL=GUCA2A;ESP6500_GRCh38_POSITION=1:42163369;ESP6500_GTC=5542,832,128;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033553.2:c.283+34T>C;ESP6500_MAF=0.1279,24.455,8.3667;ESP6500_TAC=11916,1088	GT:AD:DP:GQ:PL	1/1:0,18:18:54:616,54,0
chr1	42181812	rs112821227	G	GACAC	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.524;SOR=0.446;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112821227;dbSNPBuildID=132;ANN=GACAC|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198850.1|protein_coding|12/12|c.1753+101_1753+104dupGTGT||||||,GACAC|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198851.1|protein_coding|14/14|c.1753+101_1753+104dupGTGT||||||,GACAC|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198852.1|protein_coding|11/11|c.1651+101_1651+104dupGTGT||||||,GACAC|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_014947.4|protein_coding|12/12|c.1753+101_1753+104dupGTGT||||||;p3_1000G_AC=1601;p3_1000G_AF=0.319688;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=21660;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42647483;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120
chr1	42181865	rs545263830;rs758827398	T	TCA	64.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0.816;SOR=1.981;INS;HET;VARTYPE=INS;dbSNPBuildID=142,144;ANN=TCA|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198850.1|protein_coding|12/12|c.1753+50_1753+51dupTG||||||,TCA|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198851.1|protein_coding|14/14|c.1753+50_1753+51dupTG||||||,TCA|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198852.1|protein_coding|11/11|c.1651+50_1651+51dupTG||||||,TCA|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_014947.4|protein_coding|12/12|c.1753+50_1753+51dupTG||||||	GT:AD:DP:GQ:PL	0/1:4,4:8:99:102,0,108
chr1	42188693	rs554500	G	A	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.46;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.246;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.495;SOR=0.199;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs554500;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198850.1|protein_coding|11/12|c.1645+44C>T||||||,A|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198851.1|protein_coding|13/14|c.1645+44C>T||||||,A|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198852.1|protein_coding|10/11|c.1543+44C>T||||||,A|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_014947.4|protein_coding|11/12|c.1645+44C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1432;p3_1000G_AF=0.285942;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=18414;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42654364;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1429,2977;ESP6500_AA_AGE=463.4+/-353.5;ESP6500_AA_GTC=224,981,998;ESP6500_CDS_SIZES=NM_014947.4:1869,NM_001198852.1:1767,NM_001198851.1:1869,NM_001198850.1:1869;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=48;ESP6500_EA_AC=2135,6465;ESP6500_EA_AGE=362.3+/-332.7;ESP6500_EA_GTC=275,1585,2440;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014947.4:intron,NM_001198852.1:intron,NM_001198851.1:intron,NM_001198850.1:intron;ESP6500_GL=FOXJ3;ESP6500_GRCh38_POSITION=1:42188693;ESP6500_GTC=499,2566,3438;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014947.4:c.1645+44C>T,NM_001198852.1:c.1543+44C>T,NM_001198851.1:c.1645+44C>T,NM_001198850.1:c.1645+44C>T;ESP6500_MAF=24.8256,32.433,27.4027;ESP6500_TAC=3564,9442	GT:AD:DP:GQ:PL	0/1:9,7:16:99:183,0,233
chr1	42191197	rs1085252	C	G	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.67;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.057;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1085252;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198850.1|protein_coding|9/12|c.1351+106G>C||||||,G|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198851.1|protein_coding|11/14|c.1351+106G>C||||||,G|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_001198852.1|protein_coding|8/11|c.1249+106G>C||||||,G|intron_variant|MODIFIER|FOXJ3|FOXJ3|transcript|NM_014947.4|protein_coding|9/12|c.1351+106G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1433;p3_1000G_AF=0.286142;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=17372;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42656868;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:208,0,351
chr1	42227926	rs343376	A	G	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.032;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-1.007;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs343376;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|FOXJ3|FOXJ3|transcript|NM_001198850.1|protein_coding|5/13|c.485T>C|p.Val162Ala|754/5309|485/1869|162/622||,G|missense_variant|MODERATE|FOXJ3|FOXJ3|transcript|NM_001198851.1|protein_coding|7/15|c.485T>C|p.Val162Ala|797/5352|485/1869|162/622||,G|missense_variant|MODERATE|FOXJ3|FOXJ3|transcript|NM_001198852.1|protein_coding|5/12|c.485T>C|p.Val162Ala|659/5112|485/1767|162/588||,G|missense_variant|MODERATE|FOXJ3|FOXJ3|transcript|NM_014947.4|protein_coding|5/13|c.485T>C|p.Val162Ala|676/5231|485/1869|162/622||;p3_1000G_AA=G|||;p3_1000G_AC=3983;p3_1000G_AF=0.795327;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=16029;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.7913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42693597;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7239;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3378,1028;ESP6500_AA_AGE=379.7+/-323.4;ESP6500_AA_GTC=1299,780,124;ESP6500_CDS_SIZES=NM_014947.4:1869,NM_001198852.1:1767,NM_001198851.1:1869,NM_001198850.1:1869;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=98;ESP6500_EA_AC=6797,1803;ESP6500_EA_AGE=324.3+/-316.4;ESP6500_EA_GTC=2689,1419,192;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014947.4:missense,NM_001198852.1:missense,NM_001198851.1:missense,NM_001198850.1:missense;ESP6500_GL=FOXJ3;ESP6500_GRCh38_POSITION=1:42227926;ESP6500_GS=64,64,64,64;ESP6500_GTC=3988,2199,316;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014947.4:c.485T>C,NM_001198852.1:c.485T>C,NM_001198851.1:c.485T>C,NM_001198850.1:c.485T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014947.4:p.(V162A),NM_001198852.1:p.(V162A),NM_001198851.1:p.(V162A),NM_001198850.1:p.(V162A);ESP6500_MAF=20.9651,23.3318,21.7669;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10175,2831	GT:AD:DP:GQ:PL	0/1:12,16:28:99:378,0,294
chr1	42433172	rs1034268	A	G	1176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=2.07;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=-1.623;SOR=0.436;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1034268;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|ZMYND12|ZMYND12|transcript|NM_032257.4|protein_coding|7/8|c.946T>C|p.Phe316Leu|1216/1774|946/1098|316/365||,G|missense_variant|MODERATE|ZMYND12|ZMYND12|transcript|NM_001146192.1|protein_coding|6/7|c.616T>C|p.Phe206Leu|1044/1602|616/768|206/255||;p3_1000G_AA=G|||;p3_1000G_AC=3252;p3_1000G_AF=0.649361;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=20878;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42898843;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7362;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2616,1790;ESP6500_AA_AGE=527.6+/-372.2;ESP6500_AA_GTC=782,1052,369;ESP6500_CDS_SIZES=NM_032257.4:1098,NM_001146192.1:768;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=146;ESP6500_EA_AC=5785,2815;ESP6500_EA_AGE=445.1+/-360.9;ESP6500_EA_GTC=1920,1945,435;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032257.4:missense,NM_001146192.1:missense;ESP6500_GL=ZMYND12;ESP6500_GRCh38_POSITION=1:42433172;ESP6500_GS=22,22;ESP6500_GTC=2702,2997,804;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032257.4:c.946T>C,NM_001146192.1:c.616T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032257.4:p.(F316L),NM_001146192.1:p.(F206L);ESP6500_MAF=32.7326,40.6264,35.4067;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8401,4605	GT:AD:DP:GQ:PL	0/1:27,41:68:99:1205,0,664
chr1	42450056	rs12047095	C	G	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=5.636;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.603;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12047095;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|ZMYND12|ZMYND12|transcript|NM_032257.4|protein_coding|2/8|c.114G>C|p.Gly38Gly|384/1774|114/1098|38/365||,G|5_prime_UTR_variant|MODIFIER|ZMYND12|ZMYND12|transcript|NM_001146192.1|protein_coding|2/7|c.-45G>C|||||45|;p3_1000G_AA=C|||;p3_1000G_AC=1418;p3_1000G_AF=0.283147;p3_1000G_AFR_AF=0.1778;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=22131;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42915727;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=827,3579;ESP6500_AA_AGE=328.0+/-300.3;ESP6500_AA_GTC=81,665,1457;ESP6500_CDS_SIZES=NM_032257.4:1098,NM_001146192.1:768;ESP6500_CG=1.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=130;ESP6500_EA_AC=1698,6902;ESP6500_EA_AGE=310.9+/-310.1;ESP6500_EA_GTC=176,1346,2778;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032257.4:coding-synonymous,NM_001146192.1:utr-5;ESP6500_GL=ZMYND12;ESP6500_GRCh38_POSITION=1:42450056;ESP6500_GTC=257,2011,4235;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_032257.4:c.114G>C,NM_001146192.1:c.-45G>C;ESP6500_HGVS_PROTEIN_VAR=NM_032257.4:p.(G38),.;ESP6500_MAF=19.7442,18.7699,19.4141;ESP6500_TAC=2525,10481	GT:AD:DP:GQ:PL	0/1:18,11:29:99:335,0,548
chr1	42450082	rs11210647	T	C	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.87;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=7.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.147;SOR=2.409;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11210647;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ZMYND12|ZMYND12|transcript|NM_032257.4|protein_coding|1/7|c.111-23A>G||||||,C|intron_variant|MODIFIER|ZMYND12|ZMYND12|transcript|NM_001146192.1|protein_coding|1/6|c.-48-23A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2316;p3_1000G_AF=0.46246;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=22169;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.3529;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42915753;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1885,2521;ESP6500_AA_AGE=627.0+/-394.8;ESP6500_AA_GTC=394,1097,712;ESP6500_CDS_SIZES=NM_032257.4:1098,NM_001146192.1:768;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=105;ESP6500_EA_AC=3120,5480;ESP6500_EA_AGE=655.4+/-401.3;ESP6500_EA_GTC=565,1990,1745;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032257.4:intron,NM_001146192.1:intron;ESP6500_GL=ZMYND12;ESP6500_GRCh38_POSITION=1:42450082;ESP6500_GTC=959,3087,2457;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032257.4:c.111-23A>G,NM_001146192.1:c.-71A>G;ESP6500_MAF=36.2791,42.7826,38.4822;ESP6500_TAC=5005,8001	GT:AD:DP:GQ:PL	0/1:16,10:26:99:321,0,446
chr1	42460017	rs9787162	T	G	41.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9787162;dbSNPBuildID=119;ANN=G|3_prime_UTR_variant|MODIFIER|PPCS|PPCS|transcript|NM_024664.3|protein_coding|3/3|c.*91T>G|||||91|,G|3_prime_UTR_variant|MODIFIER|PPCS|PPCS|transcript|NM_001287506.1|protein_coding|3/3|c.*91T>G|||||91|,G|3_prime_UTR_variant|MODIFIER|PPCS|PPCS|transcript|NM_001287507.1|protein_coding|3/3|c.*91T>G|||||91|,G|3_prime_UTR_variant|MODIFIER|PPCS|PPCS|transcript|NM_001077447.2|protein_coding|3/3|c.*91T>G|||||91|,G|3_prime_UTR_variant|MODIFIER|PPCS|PPCS|transcript|NM_001287508.1|protein_coding|3/3|c.*91T>G|||||91|,G|3_prime_UTR_variant|MODIFIER|PPCS|PPCS|transcript|NM_001287509.1|protein_coding|3/3|c.*91T>G|||||91|,G|3_prime_UTR_variant|MODIFIER|PPCS|PPCS|transcript|NM_001287510.1|protein_coding|2/2|c.*91T>G|||||91|,G|upstream_gene_variant|MODIFIER|ZMYND12|ZMYND12|transcript|NM_032257.4|protein_coding||c.-4020A>C|||||3750|,G|upstream_gene_variant|MODIFIER|ZMYND12|ZMYND12|transcript|NM_001146192.1|protein_coding||c.-10006A>C|||||3750|,G|intron_variant|MODIFIER|PPCS|PPCS|transcript|NM_001287511.1|protein_coding|2/2|c.612+2667T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2347;p3_1000G_AF=0.46865;p3_1000G_AFR_AF=0.4735;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=18322;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.3519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42925688;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:70:70,0,95
chr1	42537073	rs4660643	G	A	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.039;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.738;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=1.77;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660643;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding|2/15|c.117+472G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2328;p3_1000G_AF=0.464856;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=21960;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.3519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43002744;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:185,0,350
chr1	42545359	rs11210668	A	G	121.88	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=-0.18;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11210668;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding|3/15|c.256-51A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1507;p3_1000G_AF=0.300919;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=14778;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43011030;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=946,3360;ESP6500_AA_GTC=105,736,1312;ESP6500_CDS_SIZES=NM_001080850.2:2352;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=22;ESP6500_EA_AC=1684,6848;ESP6500_EA_GTC=184,1316,2766;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080850.2:intron;ESP6500_GL=CCDC30;ESP6500_GRCh38_POSITION=1:42545359;ESP6500_GTC=289,2052,4078;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080850.2:c.256-51A>G;ESP6500_MAF=19.7375,21.9693,20.4861;ESP6500_TAC=2630,10208	GT:AD:DP:GQ:PL	0/1:1,6:7:16:150,0,16
chr1	42556139	rs12038786	C	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.04;SOR=1.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12038786;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding|4/15|c.426-17C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2303;p3_1000G_AF=0.459864;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=17239;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.3489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43021810;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1821,2581;ESP6500_AA_GTC=380,1061,760;ESP6500_CDS_SIZES=NM_001080850.2:2352;ESP6500_CG=-1.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=3065,5533;ESP6500_EA_GTC=567,1931,1801;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080850.2:intron;ESP6500_GL=CCDC30;ESP6500_GRCh38_POSITION=1:42556139;ESP6500_GTC=947,2992,2561;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080850.2:c.426-17C>T;ESP6500_MAF=35.6478,41.3676,37.5846;ESP6500_TAC=4886,8114	GT:AD:DP:GQ:PL	0/1:5,4:9:96:96,0,108
chr1	42577032	rs12049046	C	T	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.614;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.317;SOR=0.509;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12049046;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding|7/16|c.868C>T|p.Leu290Leu|978/3098|868/2352|290/783||;p3_1000G_AA=C|||;p3_1000G_AC=1430;p3_1000G_AF=0.285543;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=19876;p3_1000G_EAS_AF=0.4563;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43042703;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=808,3598;ESP6500_AA_AGE=322.3+/-297.6;ESP6500_AA_GTC=79,650,1474;ESP6500_CDS_SIZES=NM_001080850.2:2352;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=62;ESP6500_EA_AC=1707,6893;ESP6500_EA_AGE=309.3+/-309.3;ESP6500_EA_GTC=176,1355,2769;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080850.2:coding-synonymous;ESP6500_GL=CCDC30;ESP6500_GRCh38_POSITION=1:42577032;ESP6500_GTC=255,2005,4243;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080850.2:c.868C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001080850.2:p.(L290);ESP6500_MAF=19.8488,18.3386,19.3372;ESP6500_TAC=2515,10491	GT:AD:DP:GQ:PL	0/1:11,15:26:99:326,0,314
chr1	42581386	rs12037518	A	G	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.314;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.815;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12037518;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding|8/16|c.1092A>G|p.Glu364Glu|1202/3098|1092/2352|364/783||;p3_1000G_AA=A|||;p3_1000G_AC=1397;p3_1000G_AF=0.278954;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=18052;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43047057;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=792,3614;ESP6500_AA_AGE=317.7+/-295.3;ESP6500_AA_GTC=72,648,1483;ESP6500_CDS_SIZES=NM_001080850.2:2352;ESP6500_CG=2.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=92;ESP6500_EA_AC=1708,6892;ESP6500_EA_AGE=311.8+/-310.5;ESP6500_EA_GTC=177,1354,2769;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080850.2:coding-synonymous;ESP6500_GL=CCDC30;ESP6500_GRCh38_POSITION=1:42581386;ESP6500_GTC=249,2002,4252;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080850.2:c.1092A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001080850.2:p.(E364);ESP6500_MAF=19.8605,17.9755,19.2219;ESP6500_TAC=2500,10506	GT:AD:DP:GQ:PL	0/1:4,10:14:85:244,0,85
chr1	42589238	rs7527588	T	C	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.272;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7527588;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding|8/15|c.1221-83T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1525;p3_1000G_AF=0.304513;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=17821;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43054909;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:100,0,110
chr1	42644605	rs7523056	G	A	772.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7523056;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding|12/15|c.1776-88G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3351;p3_1000G_AF=0.669129;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=20616;p3_1000G_EAS_AF=0.6438;p3_1000G_EUR_AF=0.5984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43110276;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:801,72,0
chr1	42659030	rs6600419	A	G	1469.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.73;SOR=1.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6600419;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding||c.*5002A>G|||||4366|,G|intron_variant|MODIFIER|PPIH|PPIH|transcript|NM_006347.3|protein_coding|2/9|c.131+122A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3010;p3_1000G_AF=0.601038;p3_1000G_AFR_AF=0.5651;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=21370;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.5964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43124701;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1498,117,0
chr1	42659188	rs3738494	C	T	1010.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738494;dbSNPBuildID=107;ANN=T|downstream_gene_variant|MODIFIER|CCDC30|CCDC30|transcript|NM_001080850.2|protein_coding||c.*5160C>T|||||4524|,T|intron_variant|MODIFIER|PPIH|PPIH|transcript|NM_006347.3|protein_coding|2/9|c.132-40C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3189;p3_1000G_AF=0.636781;p3_1000G_AFR_AF=0.6634;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=22047;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.5984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43124859;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2857,1549;ESP6500_AA_AGE=486.4+/-360.6;ESP6500_AA_GTC=925,1007,271;ESP6500_CDS_SIZES=NM_006347.3:534;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=152;ESP6500_EA_AC=5133,3467;ESP6500_EA_AGE=508.7+/-377.1;ESP6500_EA_GTC=1521,2091,688;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006347.3:intron;ESP6500_GL=PPIH;ESP6500_GRCh38_POSITION=1:42659188;ESP6500_GTC=2446,3098,959;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006347.3:c.132-40C>T;ESP6500_MAF=40.314,35.1566,38.5668;ESP6500_TAC=7990,5016	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1039,96,0
chr1	42661062	rs3768025	G	A	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.012;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.919;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768025;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PPIH|PPIH|transcript|NM_006347.3|protein_coding|5/9|c.243+158G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1335;p3_1000G_AF=0.266573;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=17709;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43126733;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:177,0,329
chr1	42666722	rs35844708;rs397860754	G	GA	662.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=2.531;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35844708;dbSNPBuildID=137,138;ANN=GA|intron_variant|MODIFIER|PPIH|PPIH|transcript|NM_006347.3|protein_coding|8/9|c.465+137dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAA|AA|AAA|deletion;p3_1000G_AC=2151;p3_1000G_AF=0.429513;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=21795;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43132393;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,20:20:60:700,60,0
chr1	42735863	rs4660658;297339	G	A	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.899;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.163;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660658;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|CLDN19|CLDN19|transcript|NM_001185117.1|protein_coding|3/3|c.556C>T|p.Arg186Cys|747/3517|556/657|186/218||,A|3_prime_UTR_variant|MODIFIER|CLDN19|CLDN19|transcript|NM_001123395.1|protein_coding|4/4|c.*5C>T|||||5|,A|intron_variant|MODIFIER|CLDN19|CLDN19|transcript|NM_148960.2|protein_coding|4/4|c.626+15C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=954;p3_1000G_AF=0.190495;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=15229;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.162;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43201534;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP;ESP6500_AA_AC=973,3395;ESP6500_AA_GTC=114,745,1325;ESP6500_CDS_SIZES=NM_148960.2:675,NM_001185117.1:657,NM_001123395.1:636;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=25;ESP6500_EA_AC=1373,7167;ESP6500_EA_GTC=115,1143,3012;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_148960.2:intron,NM_001185117.1:missense,NM_001123395.1:utr-3;ESP6500_GL=CLDN19;ESP6500_GRCh38_POSITION=1:42735863;ESP6500_GS=.,180,.;ESP6500_GTC=229,1888,4337;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_148960.2:c.626+15C>T,NM_001185117.1:c.556C>T,NM_001123395.1:c.*5C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_001185117.1:p.(R186C),.;ESP6500_MAF=16.0773,22.2756,18.1748;ESP6500_PH=.,benign:0.0,.;ESP6500_TAC=2346,10562;CLINVAR_AF_ESP=0.1818;CLINVAR_AF_EXAC=0.26481;CLINVAR_AF_TGP=0.1905;CLINVAR_ALLELEID=282537;CLINVAR_CLNDISDB=MedGen:CN239444;CLINVAR_CLNDN=Renal_Hypomagnesemia,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.42735863G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1235;CLINVAR_GENEINFO=CLDN19:149461;CLINVAR_MC=SO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4660658	GT:AD:DP:GQ:PL	0/1:20,20:40:99:557,0,601
chr1	42747198	rs3738496	A	T	1477.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.35;ClippingRankSum=0;DP=125;ExcessHet=3.0103;FS=3.263;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.798;SOR=0.988;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738496;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|P3H1|P3H1|transcript|NM_001243246.1|protein_coding|14/14|c.2129T>A|p.Phe710Tyr|2242/3105|2129/2415|710/804||,T|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001146289.1|protein_coding|14/14|c.2074+55T>A||||||,T|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_022356.3|protein_coding|14/14|c.2055+74T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=606;p3_1000G_AF=0.121006;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=19197;p3_1000G_EAS_AF=0.2163;p3_1000G_EUR_AF=0.1213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43212869;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=315,4091;ESP6500_AA_AGE=169.1+/-199.8;ESP6500_AA_GTC=15,285,1903;ESP6500_CDS_SIZES=NM_022356.3:2211,NM_001243246.1:2415,NM_001146289.1:2094;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=93;ESP6500_EA_AC=1054,7546;ESP6500_EA_AGE=223.7+/-260.4;ESP6500_EA_GTC=71,912,3317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022356.3:intron,NM_001243246.1:missense,NM_001146289.1:intron;ESP6500_GL=LEPRE1;ESP6500_GRCh38_POSITION=1:42747198;ESP6500_GS=.,22,.;ESP6500_GTC=86,1197,5220;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_022356.3:c.2055+74T>A,NM_001243246.1:c.2129T>A,NM_001146289.1:c.2074+55T>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001243246.1:p.(F710Y),.;ESP6500_MAF=12.2558,7.1493,10.5259;ESP6500_PH=.,benign:0.021,.;ESP6500_TAC=1369,11637	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1506,0,1644
chr1	42747828	rs3738499	C	T	959.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738499;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001243246.1|protein_coding|12/13|c.1839-30G>A||||||,T|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001146289.1|protein_coding|12/14|c.1839-30G>A||||||,T|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_022356.3|protein_coding|12/14|c.1839-30G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2775;p3_1000G_AF=0.554113;p3_1000G_AFR_AF=0.32;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=20079;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.6004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43213499;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1631,2775;ESP6500_AA_AGE=501.5+/-365.0;ESP6500_AA_GTC=311,1009,883;ESP6500_CDS_SIZES=NM_022356.3:2211,NM_001243246.1:2415,NM_001146289.1:2094;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=86;ESP6500_EA_AC=5098,3502;ESP6500_EA_AGE=633.6+/-398.7;ESP6500_EA_GTC=1518,2062,720;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022356.3:intron,NM_001243246.1:intron,NM_001146289.1:intron;ESP6500_GL=LEPRE1;ESP6500_GRCh38_POSITION=1:42747828;ESP6500_GTC=1829,3071,1603;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022356.3:c.1839-30G>A,NM_001243246.1:c.1839-30G>A,NM_001146289.1:c.1839-30G>A;ESP6500_MAF=40.7209,37.0177,48.2623;ESP6500_TAC=6729,6277	GT:AD:DP:GQ:PL	1/1:0,30:30:90:988,90,0
chr1	42747939	rs7552138	T	C	187.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7552138;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001243246.1|protein_coding|12/13|c.1839-141A>G||||||,C|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001146289.1|protein_coding|12/14|c.1839-141A>G||||||,C|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_022356.3|protein_coding|12/14|c.1839-141A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3766;p3_1000G_AF=0.751997;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=20093;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.7286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43213610;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:216,15,0
chr1	42748126	rs3738500	A	G	408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.245;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.057;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.47;ReadPosRankSum=0.84;SOR=0.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738500;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001243246.1|protein_coding|12/13|c.1838+74T>C||||||,G|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001146289.1|protein_coding|12/14|c.1838+74T>C||||||,G|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_022356.3|protein_coding|12/14|c.1838+74T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=607;p3_1000G_AF=0.121206;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=19675;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.1233;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43213797;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,15:21:99:437,0,161
chr1	42762196	rs2760070	G	A	265.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2760070;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001243246.1|protein_coding|2/13|c.618+127C>T||||||,A|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001146289.1|protein_coding|2/14|c.618+127C>T||||||,A|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_022356.3|protein_coding|2/14|c.618+127C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3593;p3_1000G_AF=0.717452;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=16333;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.7256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43227867;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8446;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:294,27,0
chr1	42762518	rs2816593	T	A	1217.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=3.797;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2816593;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|C1orf50|C1orf50|transcript|NM_024097.3|protein_coding||c.-4794T>A|||||4727|,A|upstream_gene_variant|MODIFIER|C1orf50|C1orf50|transcript|NR_040733.1|pseudogene||n.-4727T>A|||||4727|,A|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001243246.1|protein_coding|1/13|c.466-43A>T||||||,A|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_001146289.1|protein_coding|1/14|c.466-43A>T||||||,A|intron_variant|MODIFIER|P3H1|P3H1|transcript|NM_022356.3|protein_coding|1/14|c.466-43A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4976;p3_1000G_AF=0.99361;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20153;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43228189;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4390,16;ESP6500_AA_AGE=23.3+/-48.9;ESP6500_AA_GTC=2187,16,0;ESP6500_CDS_SIZES=NM_022356.3:2211,NM_001243246.1:2415,NM_001146289.1:2094;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=8467,133;ESP6500_EA_AGE=67.3+/-129.8;ESP6500_EA_GTC=4168,131,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022356.3:intron,NM_001243246.1:intron,NM_001146289.1:intron;ESP6500_GL=LEPRE1;ESP6500_GRCh38_POSITION=1:42762518;ESP6500_GTC=6355,147,1;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_022356.3:c.466-43A>T,NM_001243246.1:c.466-43A>T,NM_001146289.1:c.466-43A>T;ESP6500_MAF=1.5465,0.3631,1.1456;ESP6500_TAC=12857,149	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1246,108,0
chr1	42773724	rs2760075	G	A	678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.65;SOR=5.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2760075;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|LOC105378683|LOC105378683|transcript|NR_133055.1|pseudogene||n.*2942C>T|||||2942|,A|intron_variant|MODIFIER|C1orf50|C1orf50|transcript|NM_024097.3|protein_coding|3/4|c.282+75G>A||||||,A|intron_variant|MODIFIER|C1orf50|C1orf50|transcript|NR_040733.1|pseudogene|2/3|n.233+75G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3567;p3_1000G_AF=0.71226;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=20296;p3_1000G_EAS_AF=0.7073;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43239395;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:707,57,0
chr1	42830447	rs12124733	G	A	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.479;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=0.707;SOR=0.532;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12124733;dbSNPBuildID=120;ANN=A|5_prime_UTR_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_001017922.1|protein_coding|3/12|c.-2G>A|||||2|,A|5_prime_UTR_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_018538.3|protein_coding|2/11|c.-2G>A|||||2|;p3_1000G_AA=G|||;p3_1000G_AC=1678;p3_1000G_AF=0.335064;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=18125;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.1859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43296118;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1853,2553;ESP6500_AA_AGE=537.6+/-374.8;ESP6500_AA_GTC=393,1067,743;ESP6500_CDS_SIZES=NM_018538.3:1428,NM_001017922.1:1428;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=94;ESP6500_EA_AC=1657,6943;ESP6500_EA_AGE=305.8+/-307.6;ESP6500_EA_GTC=175,1307,2818;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018538.3:utr-5,NM_001017922.1:utr-5;ESP6500_GL=ERMAP;ESP6500_GRCh38_POSITION=1:42830447;ESP6500_GTC=568,2374,3561;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018538.3:c.-2G>A,NM_001017922.1:c.-2G>A;ESP6500_MAF=19.2674,42.0563,26.9875;ESP6500_TAC=3510,9496	GT:AD:DP:GQ:PL	0/1:24,13:37:99:272,0,661
chr1	42835250	rs4660673	C	G	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.493;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.99;ReadPosRankSum=0.374;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660673;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_001017922.1|protein_coding|5/11|c.550+96C>G||||||,G|intron_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_018538.3|protein_coding|4/10|c.550+96C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3744;p3_1000G_AF=0.747604;p3_1000G_AFR_AF=0.7943;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=18284;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43300921;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,15:20:99:528,0,116
chr1	42835720	rs149950197	T	C	562.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.53;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149950197;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_001017922.1|protein_coding|5/11|c.551-12T>C||||||,C|intron_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_018538.3|protein_coding|4/10|c.551-12T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=90;p3_1000G_AF=0.0179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=18775;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43301391;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3,4403;ESP6500_AA_AGE=6.2+/-15.9;ESP6500_AA_GTC=0,3,2200;ESP6500_CDS_SIZES=NM_018538.3:1428,NM_001017922.1:1428;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=124;ESP6500_EA_AC=7,8593;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=0,7,4293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018538.3:intron,NM_001017922.1:intron;ESP6500_GL=ERMAP;ESP6500_GRCh38_POSITION=1:42835720;ESP6500_GTC=0,10,6493;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018538.3:c.551-12T>C,NM_001017922.1:c.551-12T>C;ESP6500_MAF=0.0814,0.0681,0.0769;ESP6500_TAC=10,12996	GT:AD:DP:GQ:PL	0/1:29,22:51:99:591,0,771
chr1	42837300	rs1466548	C	G	346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.67;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1466548;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_001017922.1|protein_coding|7/11|c.616+110C>G||||||,G|intron_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_018538.3|protein_coding|6/10|c.616+110C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2235;p3_1000G_AF=0.446286;p3_1000G_AFR_AF=0.3956;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=11928;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.3469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43302971;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:375,39,0
chr1	42840082	rs12034000	G	A	789.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.751;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.284;SOR=0.62;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12034000;dbSNPBuildID=120;ANN=A|sequence_feature|LOW|ERMAP|ERMAP|domain:B30.2/SPRY|NM_018538.3|protein_coding|8/10|c.658+29G>A||||||,A|intron_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_001017922.1|protein_coding|9/11|c.658+29G>A||||||,A|intron_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_018538.3|protein_coding|8/10|c.658+29G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1304;p3_1000G_AF=0.260383;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=21173;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.2028;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43305753;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1173,3233;ESP6500_AA_AGE=412.8+/-336.2;ESP6500_AA_GTC=163,847,1193;ESP6500_CDS_SIZES=NM_018538.3:1428,NM_001017922.1:1428;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=215;ESP6500_EA_AC=1768,6832;ESP6500_EA_AGE=320.4+/-314.6;ESP6500_EA_GTC=192,1384,2724;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018538.3:intron,NM_001017922.1:intron;ESP6500_GL=ERMAP;ESP6500_GRCh38_POSITION=1:42840082;ESP6500_GTC=355,2231,3917;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018538.3:c.658+29G>A,NM_001017922.1:c.658+29G>A;ESP6500_MAF=20.5581,26.6228,22.6126;ESP6500_TAC=2941,10065	GT:AD:DP:GQ:PL	0/1:28,33:61:99:818,0,623
chr1	42849860	rs56653907	T	C	484.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.048;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.08;ReadPosRankSum=0.112;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56653907;dbSNPBuildID=129;ANN=C|downstream_gene_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_001017922.1|protein_coding||c.*6628T>C|||||4871|,C|downstream_gene_variant|MODIFIER|ERMAP|ERMAP|transcript|NM_018538.3|protein_coding||c.*6628T>C|||||4871|,C|intron_variant|MODIFIER|ZNF691|ZNF691|transcript|NM_001242739.1|protein_coding|3/3|c.84+118T>C||||||,C|intron_variant|MODIFIER|ZNF691|ZNF691|transcript|NM_015911.3|protein_coding|1/1|c.-9-1090T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1309;p3_1000G_AF=0.261382;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=20054;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.2028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43315531;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,17:21:80:513,0,80
chr1	42927574	rs11282849	G	GGGTGAGAAAT	1680.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.983;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=6.513;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.01;ReadPosRankSum=0.095;SOR=0.336;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11282849,rs3831326;dbSNPBuildID=121;ANN=GGGTGAGAAAT|intron_variant|MODIFIER|SLC2A1|SLC2A1|transcript|NM_006516.2|protein_coding|9/9|c.1278+30_1278+31insATTTCTCACC||||||;p3_1000G_AC=3092;p3_1000G_AF=0.617412;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=23724;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.4602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43393245;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=INDEL;ESP6500_AA_AC=3199,1057;ESP6500_AA_GTC=1230,739,159;ESP6500_CDS_SIZES=NM_006516.2:1479;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=28;ESP6500_EA_AC=3744,4504;ESP6500_EA_GTC=857,2030,1237;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006516.2:intron;ESP6500_GL=SLC2A1;ESP6500_GRCh38_POSITION=1:42927574;ESP6500_GTC=2087,2769,1396;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006516.2:c.1278+30_1278+31insATTTCTCACC;ESP6500_MAF=45.3928,24.8355,44.4738;ESP6500_TAC=6943,5561	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1718,0,3130
chr1	42943295	rs1385129;95413	G	A	2225.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=1.308;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1385129;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|SLC2A1|SLC2A1|transcript|NM_006516.2|protein_coding|2/10|c.45C>T|p.Ala15Ala|570/3670|45/1479|15/492||;p3_1000G_AA=G|||;p3_1000G_AC=1204;p3_1000G_AF=0.240415;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=19565;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.2187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43408966;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=772,3634;ESP6500_AA_AGE=311.6+/-292.2;ESP6500_AA_GTC=54,664,1485;ESP6500_CDS_SIZES=NM_006516.2:1479;ESP6500_CG=-5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=54;ESP6500_EA_AC=1853,6747;ESP6500_EA_AGE=326.0+/-317.2;ESP6500_EA_GTC=216,1421,2663;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006516.2:coding-synonymous;ESP6500_GL=SLC2A1;ESP6500_GRCh38_POSITION=1:42943295;ESP6500_GTC=270,2085,4148;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006516.2:c.45C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006516.2:p.(A15);ESP6500_MAF=21.5465,17.5216,20.183;ESP6500_TAC=2625,10381;CLINVAR_AF_ESP=0.2018;CLINVAR_AF_EXAC=0.24464;CLINVAR_AF_TGP=0.2404;CLINVAR_ALLELEID=101312;CLINVAR_CLNDISDB=MedGen:C0393593,Orphanet:ORPHA68363|MedGen:C1847501,Orphanet:ORPHA71277|MedGen:CN030711,OMIM:606777|MedGen:CN169374;CLINVAR_CLNDN=Dystonia|Glucose_transporter_type_1_deficiency_syndrome|GLUT1_deficiency_syndrome_1|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.42943295G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:17531|Illumina_Clinical_Services_Laboratory,Illumina:1318;CLINVAR_GENEINFO=SLC2A1:6513;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1385129	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2254,216,0
chr1	43186698	rs6413971	T	C	652.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6413971;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|5/23|c.970-9T>C||||||,C|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001167965.1|protein_coding|5/10|c.970-9T>C||||||,C|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_152498.3|protein_coding|5/10|c.970-9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4992;p3_1000G_AF=0.996805;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18681;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43652369;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4362,44;ESP6500_AA_AGE=46.0+/-80.4;ESP6500_AA_GTC=2159,44,0;ESP6500_CDS_SIZES=NM_152498.3:2097,NM_001195831.2:3852,NM_001167965.1:2097;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=94;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152498.3:intron,NM_001195831.2:intron,NM_001167965.1:intron;ESP6500_GL=WDR65;ESP6500_GRCh38_POSITION=1:43186698;ESP6500_GTC=6459,44,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152498.3:c.970-9T>C,NM_001195831.2:c.970-9T>C,NM_001167965.1:c.970-9T>C;ESP6500_MAF=0.0,0.9986,0.3383;ESP6500_TAC=12962,44	GT:AD:DP:GQ:PL	1/1:0,21:21:62:681,62,0
chr1	43197705	rs513009	A	G	1586.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs513009;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|7/23|c.1262+13A>G||||||,G|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001167965.1|protein_coding|7/10|c.1262+13A>G||||||,G|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_152498.3|protein_coding|7/10|c.1262+13A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3600;p3_1000G_AF=0.71885;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=15897;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.9324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43663376;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7597;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2562,1844;ESP6500_AA_AGE=613.3+/-392.2;ESP6500_AA_GTC=761,1040,402;ESP6500_CDS_SIZES=NM_152498.3:2097,NM_001195831.2:3852,NM_001167965.1:2097;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=76;ESP6500_EA_AC=7922,678;ESP6500_EA_AGE=784.0+/-407.6;ESP6500_EA_GTC=3664,594,42;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152498.3:intron,NM_001195831.2:intron,NM_001167965.1:intron;ESP6500_GL=WDR65;ESP6500_GRCh38_POSITION=1:43197705;ESP6500_GTC=4425,1634,444;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152498.3:c.1262+13A>G,NM_001195831.2:c.1262+13A>G,NM_001167965.1:c.1262+13A>G;ESP6500_MAF=7.8837,41.852,19.3911;ESP6500_TAC=10484,2522	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1615,144,0
chr1	43206965	rs11210812	T	G	1518.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.99;SOR=3.109;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11210812;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|10/23|c.1755+33T>G||||||,G|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001167965.1|protein_coding|10/10|c.1755+33T>G||||||,G|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_152498.3|protein_coding|10/10|c.1755+33T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2375;p3_1000G_AF=0.474241;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=20665;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.5656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43672636;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=917,3489;ESP6500_AA_GTC=128,661,1414;ESP6500_CDS_SIZES=NM_152498.3:2097,NM_001195831.2:3852,NM_001167965.1:2097;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=30;ESP6500_EA_AC=4759,3829;ESP6500_EA_GTC=1489,1781,1024;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152498.3:intron,NM_001195831.2:intron,NM_001167965.1:intron;ESP6500_GL=WDR65;ESP6500_GRCh38_POSITION=1:43206965;ESP6500_GTC=1617,2442,2438;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_152498.3:c.1755+33T>G,NM_001195831.2:c.1755+33T>G,NM_001167965.1:c.1755+33T>G;ESP6500_MAF=44.5855,20.8125,43.6817;ESP6500_TAC=5676,7318	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1547,129,0
chr1	43209796	rs2453412	G	A	1962.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=1.306;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2453412;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|11/24|c.1809G>A|p.Ser603Ser|1955/4165|1809/3852|603/1283||,A|synonymous_variant|LOW|CFAP57|CFAP57|transcript|NM_001167965.1|protein_coding|11/11|c.1809G>A|p.Ser603Ser|1952/3034|1809/2097|603/698||,A|synonymous_variant|LOW|CFAP57|CFAP57|transcript|NM_152498.3|protein_coding|11/11|c.1809G>A|p.Ser603Ser|1955/3037|1809/2097|603/698||;p3_1000G_AA=g|||;p3_1000G_AC=3480;p3_1000G_AF=0.694888;p3_1000G_AFR_AF=0.5408;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=19671;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.8877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43675467;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2529,1877;ESP6500_AA_AGE=630.7+/-395.5;ESP6500_AA_GTC=718,1093,392;ESP6500_CDS_SIZES=NM_152498.3:2097,NM_001195831.2:3852,NM_001167965.1:2097;ESP6500_CG=-11.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=142;ESP6500_EA_AC=7532,1068;ESP6500_EA_AGE=769.7+/-407.6;ESP6500_EA_GTC=3298,936,66;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152498.3:coding-synonymous,NM_001195831.2:coding-synonymous,NM_001167965.1:coding-synonymous;ESP6500_GL=WDR65;ESP6500_GRCh38_POSITION=1:43209796;ESP6500_GTC=4016,2029,458;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152498.3:c.1809G>A,NM_001195831.2:c.1809G>A,NM_001167965.1:c.1809G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152498.3:p.(S603),NM_001195831.2:p.(S603),NM_001167965.1:p.(S603);ESP6500_MAF=12.4186,42.601,22.6434;ESP6500_TAC=10061,2945	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1991,192,0
chr1	43215184	rs4233492	G	A	595.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4233492;dbSNPBuildID=111;ANN=A|downstream_gene_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001167965.1|protein_coding||c.*5100G>A|||||4306|,A|downstream_gene_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_152498.3|protein_coding||c.*5100G>A|||||4306|,A|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|11/23|c.1930-71G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4969;p3_1000G_AF=0.992212;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18971;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43680855;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:624,60,0
chr1	43232297	rs3120045	G	A	632.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3120045;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|19/23|c.3108+133G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2341;p3_1000G_AF=0.467452;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=19819;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43697968;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:661,57,0
chr1	43234142	rs3820588	A	G	589.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.22;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820588;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|20/23|c.3226-137A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3935;p3_1000G_AF=0.785743;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=17945;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.7664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43699813;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:618,45,0
chr1	43234264	rs2477561	C	T	2490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.668;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2477561;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|20/23|c.3226-15C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4981;p3_1000G_AF=0.994609;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18623;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43699935;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2519,242,0
chr1	43234469	rs2483688	A	G	2573.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=1.031;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2483688;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CFAP57|CFAP57|transcript|NM_001195831.2|protein_coding|21/23|c.3361-26A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3988;p3_1000G_AF=0.796326;p3_1000G_AFR_AF=0.6906;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=17676;p3_1000G_EAS_AF=0.9177;p3_1000G_EUR_AF=0.8062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43700140;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2602,240,0
chr1	43305345	rs3831248;rs397840599	TA	T	2240.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=1.127;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3831248;dbSNPBuildID=130,138;ANN=T|splice_region_variant&intron_variant|LOW|TIE1|TIE1|transcript|NM_005424.4|protein_coding|3/22|c.484+5delA||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|TIE1|TIE1|transcript|NM_001253357.1|protein_coding|3/22|c.349+5delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AA|AAA|AA|insertion;p3_1000G_AC=3817;p3_1000G_AF=0.762181;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=18657;p3_1000G_EAS_AF=0.8631;p3_1000G_EUR_AF=0.6292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43771016;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=INDEL;ESP6500_AA_AC=3148,1118;ESP6500_AA_GTC=1158,832,143;ESP6500_CDS_SIZES=NM_005424.4:3417,NM_001253357.1:3282;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=135;ESP6500_EA_AC=5065,3189;ESP6500_EA_GTC=1561,1943,623;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005424.4:intron,NM_001253357.1:intron;ESP6500_GL=TIE1;ESP6500_GRCh38_POSITION=1:43305345;ESP6500_GTC=2719,2775,766;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005424.4:c.484+3del1,NM_001253357.1:c.349+3del1;ESP6500_MAF=38.6358,26.2072,34.401;ESP6500_TAC=8213,4307	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2278,193,0
chr1	43305419	rs3120044	G	A	1245.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=1.923;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3120044;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_005424.4|protein_coding|3/22|c.484+76G>A||||||,A|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_001253357.1|protein_coding|3/22|c.349+76G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3889;p3_1000G_AF=0.776558;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=18236;p3_1000G_EAS_AF=0.8631;p3_1000G_EUR_AF=0.6292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43771090;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1274,117,0
chr1	43307362	rs2275180	A	G	1489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.65;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275180;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_005424.4|protein_coding|5/22|c.773-70A>G||||||,G|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_001253357.1|protein_coding|5/22|c.638-70A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4039;p3_1000G_AF=0.80651;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=17572;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43773033;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1518,129,0
chr1	43308766	rs1467809	G	A	308.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1467809;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_005424.4|protein_coding|7/22|c.1043-220G>A||||||,A|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_001253357.1|protein_coding|7/22|c.908-220G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=14833;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.6292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43774437;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:337,30,0
chr1	43308824	rs2282225	G	C	658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2282225;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_005424.4|protein_coding|7/22|c.1043-162G>C||||||,C|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_001253357.1|protein_coding|7/22|c.908-162G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2935;p3_1000G_AF=0.586062;p3_1000G_AFR_AF=0.5038;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=15629;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43774495;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:687,54,0
chr1	43312181	rs1999595	C	T	937.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1999595;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_005424.4|protein_coding|11/22|c.1630+50C>T||||||,T|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_001253357.1|protein_coding|11/22|c.1495+50C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4059;p3_1000G_AF=0.810503;p3_1000G_AFR_AF=0.6936;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=18313;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.8628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43777852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8599;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3165,1239;ESP6500_AA_GTC=1133,899,170;ESP6500_CDS_SIZES=NM_005424.4:3417,NM_001253357.1:3282;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=21;ESP6500_EA_AC=7434,1162;ESP6500_EA_GTC=3216,1002,80;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005424.4:intron,NM_001253357.1:intron;ESP6500_GL=TIE1;ESP6500_GRCh38_POSITION=1:43312181;ESP6500_GTC=4349,1901,250;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005424.4:c.1630+50C>T,NM_001253357.1:c.1495+50C>T;ESP6500_MAF=13.5179,28.1335,18.4692;ESP6500_TAC=10599,2401	GT:AD:DP:GQ:PL	1/1:0,27:27:81:966,81,0
chr1	43313893	rs3120276	T	C	1347.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3120276;dbSNPBuildID=103;ANN=C|synonymous_variant|LOW|TIE1|TIE1|transcript|NM_005424.4|protein_coding|14/23|c.2334T>C|p.Ala778Ala|2511/3982|2334/3417|778/1138||,C|synonymous_variant|LOW|TIE1|TIE1|transcript|NM_001253357.1|protein_coding|14/23|c.2199T>C|p.Ala733Ala|2428/3899|2199/3282|733/1093||;p3_1000G_AA=C|||;p3_1000G_AC=4022;p3_1000G_AF=0.803115;p3_1000G_AFR_AF=0.8911;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=16200;p3_1000G_EAS_AF=0.879;p3_1000G_EUR_AF=0.6272;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43779564;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3745,661;ESP6500_AA_AGE=279.9+/-275.1;ESP6500_AA_GTC=1591,563,49;ESP6500_CDS_SIZES=NM_005424.4:3417,NM_001253357.1:3282;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=72;ESP6500_EA_AC=5263,3337;ESP6500_EA_AGE=496.8+/-374.4;ESP6500_EA_GTC=1620,2023,657;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005424.4:coding-synonymous,NM_001253357.1:coding-synonymous;ESP6500_GL=TIE1;ESP6500_GRCh38_POSITION=1:43313893;ESP6500_GTC=3211,2586,706;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005424.4:c.2334T>C,NM_001253357.1:c.2199T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005424.4:p.(A778),NM_001253357.1:p.(A733);ESP6500_MAF=38.8023,15.0023,30.7397;ESP6500_TAC=9008,3998	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1376,126,0
chr1	43317175	rs1198982	G	A	715.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1198982;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_005424.4|protein_coding|14/22|c.2410-24G>A||||||,A|intron_variant|MODIFIER|TIE1|TIE1|transcript|NM_001253357.1|protein_coding|14/22|c.2275-24G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4007;p3_1000G_AF=0.80012;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=17986;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.6233;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43782846;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8947;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3748,658;ESP6500_AA_AGE=265.3+/-266.6;ESP6500_AA_GTC=1594,560,49;ESP6500_CDS_SIZES=NM_005424.4:3417,NM_001253357.1:3282;ESP6500_CG=0.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=46;ESP6500_EA_AC=5240,3360;ESP6500_EA_AGE=476.3+/-369.4;ESP6500_EA_GTC=1608,2024,668;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005424.4:intron,NM_001253357.1:intron;ESP6500_GL=TIE1;ESP6500_GRCh38_POSITION=1:43317175;ESP6500_GTC=3202,2584,717;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005424.4:c.2410-24G>A,NM_001253357.1:c.2275-24G>A;ESP6500_MAF=39.0698,14.9342,30.8934;ESP6500_TAC=8988,4018	GT:AD:DP:GQ:PL	1/1:0,23:23:69:744,69,0
chr1	43578797	rs11210874	C	T	1473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.681;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=0.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.6;SOR=0.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11210874;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|6/33|c.569-13C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|8/34|c.587-13C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|8/36|c.587-13C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|6/32|c.569-13C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|6/30|c.569-13C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|6/32|c.569-13C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1356;p3_1000G_AF=0.270767;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=23072;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.3161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44044468;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=550,3856;ESP6500_AA_AGE=248.4+/-256.2;ESP6500_AA_GTC=32,486,1685;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=121;ESP6500_EA_AC=2761,5839;ESP6500_EA_AGE=438.9+/-359.0;ESP6500_EA_GTC=460,1841,1999;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:intron,NM_002840.3:intron;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43578797;ESP6500_GTC=492,2327,3684;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.569-13C>T,NM_002840.3:c.569-13C>T;ESP6500_MAF=32.1047,12.483,25.4575;ESP6500_TAC=3311,9695	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1502,0,1247
chr1	43590791	rs2117315	T	C	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.637;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=1.47;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2117315;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|8/33|c.950-181T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|10/34|c.968-181T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|11/36|c.980-181T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|8/32|c.950-181T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|8/30|c.950-181T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|8/32|c.950-181T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1669;p3_1000G_AF=0.333267;p3_1000G_AFR_AF=0.2534;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=19496;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44056462;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:57:151,0,57
chr1	43591586	rs2304353	A	G	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.96;ReadPosRankSum=1.09;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304353;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|9/33|c.1531+33A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|11/34|c.1549+33A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|12/36|c.1561+33A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|9/32|c.1531+33A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|9/30|c.1531+33A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|9/32|c.1531+33A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1415;p3_1000G_AF=0.282548;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=16871;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.3191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44057257;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=430,3820;ESP6500_AA_GTC=32,366,1727;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=6;ESP6500_EA_AC=2401,5931;ESP6500_EA_GTC=397,1607,2162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:intron,NM_002840.3:intron;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43591586;ESP6500_GTC=429,1973,3889;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.1531+33A>G,NM_002840.3:c.1531+33A>G;ESP6500_MAF=28.8166,10.1176,22.5004;ESP6500_TAC=2831,9751	GT:AD:DP:GQ:PL	0/1:25,10:35:99:237,0,787
chr1	43591997	rs7540068	G	T	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.765;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=1.08;SOR=0.785;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7540068;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|10/33|c.1668+49G>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|12/34|c.1686+49G>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|13/36|c.1698+49G>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|10/32|c.1668+49G>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|10/30|c.1668+49G>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|10/32|c.1668+49G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1411;p3_1000G_AF=0.281749;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=19819;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44057668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=481,3923;ESP6500_AA_GTC=26,429,1747;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=0.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=28;ESP6500_EA_AC=2743,5857;ESP6500_EA_GTC=462,1819,2019;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:intron,NM_002840.3:intron;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43591997;ESP6500_GTC=488,2248,3766;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.1668+49G>T,NM_002840.3:c.1668+49G>T;ESP6500_MAF=31.8953,10.9219,24.7924;ESP6500_TAC=3224,9780	GT:AD:DP:GQ:PL	0/1:28,15:43:99:379,0,730
chr1	43592025	rs7553297	A	G	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.975;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=0.278;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7553297;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|10/33|c.1668+77A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|12/34|c.1686+77A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|13/36|c.1698+77A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|10/32|c.1668+77A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|10/30|c.1668+77A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|10/32|c.1668+77A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1411;p3_1000G_AF=0.281749;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=20005;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.3191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44057696;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,12:33:99:299,0,588
chr1	43592363	rs2117316	G	A	356.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.737;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.093;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.24;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2117316;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|10/33|c.1669-94G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|12/34|c.1687-94G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|13/36|c.1699-94G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|10/32|c.1669-94G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|10/30|c.1669-94G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|10/32|c.1669-94G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1412;p3_1000G_AF=0.281949;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=17748;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.3191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44058034;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,13:23:99:385,0,277
chr1	43592594	rs3828151	C	A	529.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.702;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.506;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.432;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828151;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|11/34|c.1806C>A|p.Ala602Ala|2162/7749|1806/5724|602/1907||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|13/35|c.1824C>A|p.Ala608Ala|2158/6893|1824/4890|608/1629||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|14/37|c.1836C>A|p.Ala612Ala|2170/6917|1836/4914|612/1637||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|11/33|c.1806C>A|p.Ala602Ala|2162/6897|1806/4872|602/1623||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|11/31|c.1806C>A|p.Ala602Ala|2162/6837|1806/4812|602/1603||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|11/33|c.1806C>A|p.Ala602Ala|2162/7722|1806/5697|602/1898||;p3_1000G_AA=A|||;p3_1000G_AC=2236;p3_1000G_AF=0.446486;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=16880;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.3966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44058265;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2013,2393;ESP6500_AA_AGE=614.4+/-392.4;ESP6500_AA_GTC=468,1077,658;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=3472,5128;ESP6500_EA_AGE=635.2+/-398.9;ESP6500_EA_GTC=704,2064,1532;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:coding-synonymous,NM_002840.3:coding-synonymous;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43592594;ESP6500_GTC=1172,3141,2190;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.1806C>A,NM_002840.3:c.1806C>A;ESP6500_HGVS_PROTEIN_VAR=NM_130440.2:p.(A602),NM_002840.3:p.(A602);ESP6500_MAF=40.3721,45.6877,42.1728;ESP6500_TAC=5485,7521	GT:AD:DP:GQ:PL	0/1:11,24:35:99:558,0,249
chr1	43597579	rs562249	T	C	1105.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs562249;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|11/33|c.1814-169T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|13/34|c.1832-1141T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|14/36|c.1844-1141T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|11/32|c.1814-1141T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|11/30|c.1814-1141T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|11/32|c.1814-169T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4932;p3_1000G_AF=0.984824;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=19061;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44063250;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1134,99,0
chr1	43598648	rs17849103	A	G	675.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.735;SOR=0.595;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17849103;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|12/33|c.2120-72A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|13/34|c.1832-72A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|14/36|c.1844-72A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|11/32|c.1814-72A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|11/30|c.1814-72A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|12/32|c.2120-72A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1977;p3_1000G_AF=0.394768;p3_1000G_AFR_AF=0.2685;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=18768;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.3917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44064319;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,28:61:99:704,0,765
chr1	43602188	rs12023161	A	G	942.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.24;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=2.135;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.487;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12023161;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|14/33|c.2340+91A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|15/34|c.2052+91A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|16/36|c.2064+91A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|13/32|c.2034+91A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|12/30|c.2008-1228A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|13/32|c.2314-1228A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1978;p3_1000G_AF=0.394968;p3_1000G_AFR_AF=0.2685;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=18952;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44067859;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:39,35:74:99:971,0,988
chr1	43605550	rs631248	G	A	509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.467;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.223;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs631248;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|19/34|c.3411G>A|p.Val1137Val|3767/7749|3411/5724|1137/1907||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|19/35|c.2544G>A|p.Val848Val|2878/6893|2544/4890|848/1629||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|20/37|c.2556G>A|p.Val852Val|2890/6917|2556/4914|852/1637||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|17/33|c.2526G>A|p.Val842Val|2882/6897|2526/4872|842/1623||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|16/31|c.2499G>A|p.Val833Val|2855/6837|2499/4812|833/1603||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|18/33|c.3384G>A|p.Val1128Val|3740/7722|3384/5697|1128/1898||;p3_1000G_AA=G|||;p3_1000G_AC=3017;p3_1000G_AF=0.602436;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=19963;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44071221;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2084,2322;ESP6500_AA_AGE=569.0+/-382.5;ESP6500_AA_GTC=482,1120,601;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=121;ESP6500_EA_AC=6617,1983;ESP6500_EA_AGE=722.9+/-406.4;ESP6500_EA_GTC=2578,1461,261;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:coding-synonymous,NM_002840.3:coding-synonymous;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43605550;ESP6500_GTC=3060,2581,862;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.3384G>A,NM_002840.3:c.3411G>A;ESP6500_HGVS_PROTEIN_VAR=NM_130440.2:p.(V1128),NM_002840.3:p.(V1137);ESP6500_MAF=23.0581,47.2991,33.1001;ESP6500_TAC=8701,4305	GT:AD:DP:GQ:PL	0/1:27,22:49:99:538,0,881
chr1	43606347	rs1065772	C	T	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.015;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.23;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-1.018;SOR=0.948;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1065772;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|20/34|c.3591C>T|p.Thr1197Thr|3947/7749|3591/5724|1197/1907||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|20/35|c.2724C>T|p.Thr908Thr|3058/6893|2724/4890|908/1629||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|21/37|c.2736C>T|p.Thr912Thr|3070/6917|2736/4914|912/1637||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|18/33|c.2706C>T|p.Thr902Thr|3062/6897|2706/4872|902/1623||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|17/31|c.2679C>T|p.Thr893Thr|3035/6837|2679/4812|893/1603||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|19/33|c.3564C>T|p.Thr1188Thr|3920/7722|3564/5697|1188/1898||;p3_1000G_AA=C|||;p3_1000G_AC=1393;p3_1000G_AF=0.278155;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=15577;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.3569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44072018;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=418,3988;ESP6500_AA_AGE=203.8+/-226.2;ESP6500_AA_GTC=21,376,1806;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=125;ESP6500_EA_AC=3000,5600;ESP6500_EA_AGE=462.2+/-365.6;ESP6500_EA_GTC=525,1950,1825;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:coding-synonymous,NM_002840.3:coding-synonymous;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43606347;ESP6500_GTC=546,2326,3631;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.3564C>T,NM_002840.3:c.3591C>T;ESP6500_HGVS_PROTEIN_VAR=NM_130440.2:p.(T1188),NM_002840.3:p.(T1197);ESP6500_MAF=34.8837,9.4871,26.2802;ESP6500_TAC=3418,9588	GT:AD:DP:GQ:PL	0/1:24,17:41:99:379,0,689
chr1	43606395	rs10890266	C	T	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.979;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.565;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10890266;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|20/34|c.3639C>T|p.Pro1213Pro|3995/7749|3639/5724|1213/1907||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|20/35|c.2772C>T|p.Pro924Pro|3106/6893|2772/4890|924/1629||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|21/37|c.2784C>T|p.Pro928Pro|3118/6917|2784/4914|928/1637||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|18/33|c.2754C>T|p.Pro918Pro|3110/6897|2754/4872|918/1623||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|17/31|c.2727C>T|p.Pro909Pro|3083/6837|2727/4812|909/1603||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|19/33|c.3612C>T|p.Pro1204Pro|3968/7722|3612/5697|1204/1898||;p3_1000G_AA=C|||;p3_1000G_AC=1408;p3_1000G_AF=0.28115;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=15878;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44072066;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=413,3993;ESP6500_AA_AGE=202.8+/-225.5;ESP6500_AA_GTC=21,371,1811;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=-0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=144;ESP6500_EA_AC=3111,5489;ESP6500_EA_AGE=475.5+/-369.1;ESP6500_EA_GTC=574,1963,1763;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:coding-synonymous,NM_002840.3:coding-synonymous;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43606395;ESP6500_GTC=595,2334,3574;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.3612C>T,NM_002840.3:c.3639C>T;ESP6500_HGVS_PROTEIN_VAR=NM_130440.2:p.(P1204),NM_002840.3:p.(P1213);ESP6500_MAF=36.1744,9.3736,27.0952;ESP6500_TAC=3524,9482	GT:AD:DP:GQ:PL	0/1:19,14:33:99:334,0,515
chr1	43606749	rs539096	A	G	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.881;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.92;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.591;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs539096;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|20/33|c.3703-65A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|20/34|c.2836-65A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|21/36|c.2848-65A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|18/32|c.2818-65A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|17/30|c.2791-65A>G||||||,G|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|19/32|c.3676-65A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3621;p3_1000G_AF=0.723043;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=17651;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.7425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44072420;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:140,0,221
chr1	43609556	rs517622	T	C	1210.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs517622;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|22/33|c.3973+58T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|22/34|c.3106+58T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|24/36|c.3130+58T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|20/32|c.3088+58T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|19/30|c.3061+58T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|21/32|c.3946+58T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4934;p3_1000G_AF=0.985224;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=18702;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44075227;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1239,114,0
chr1	43612688	rs3791149	T	A	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.591;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.692;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3791149;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|22/33|c.3974-930T>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|22/34|c.3107-80T>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|24/36|c.3131-80T>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|20/32|c.3089-80T>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|19/30|c.3062-930T>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|21/32|c.3947-930T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1335;p3_1000G_AF=0.266573;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=13992;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.3121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44078359;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,5:16:99:0|1:43612688_T_A:169,0,573
chr1	43612713	rs499257	T	C	209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.12;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-1.417;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs499257;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|22/33|c.3974-905T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|22/34|c.3107-55T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|24/36|c.3131-55T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|20/32|c.3089-55T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|19/30|c.3062-905T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|21/32|c.3947-905T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2330;p3_1000G_AF=0.465256;p3_1000G_AFR_AF=0.1687;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=14948;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44078384;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,7:19:99:0|1:43612688_T_A:238,0,595
chr1	43613740	rs603542	T	C	1075.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=1.93;SOR=0.82;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs603542;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|23/33|c.4071+25T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|24/34|c.3237+25T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|26/36|c.3261+25T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|22/32|c.3219+25T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|20/30|c.3159+25T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|22/32|c.4044+25T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2356;p3_1000G_AF=0.470447;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=21550;p3_1000G_EAS_AF=0.6875;p3_1000G_EUR_AF=0.6382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44079411;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1240,3166;ESP6500_AA_AGE=425.5+/-340.8;ESP6500_AA_GTC=173,894,1136;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=104;ESP6500_EA_AC=5718,2882;ESP6500_EA_AGE=671.5+/-402.8;ESP6500_EA_GTC=1933,1852,515;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:intron,NM_002840.3:intron;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43613740;ESP6500_GTC=2106,2746,1651;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.4044+25T>C,NM_002840.3:c.4071+25T>C;ESP6500_MAF=33.5116,28.1434,46.5016;ESP6500_TAC=6958,6048	GT:AD:DP:GQ:PL	0/1:26,40:66:99:1104,0,603
chr1	43617344	rs653953	G	A	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.725;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=1.24;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs653953;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|23/33|c.4072-101G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|24/34|c.3238-101G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|26/36|c.3262-101G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|22/32|c.3220-101G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|20/30|c.3160-101G>A||||||,A|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|22/32|c.4045-101G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2983;p3_1000G_AF=0.595647;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17879;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.6441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44083015;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:84:336,0,84
chr1	43617366	rs566559691	G	C	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.285;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.99;ReadPosRankSum=0.752;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|23/33|c.4072-79G>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|24/34|c.3238-79G>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|26/36|c.3262-79G>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|22/32|c.3220-79G>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|20/30|c.3160-79G>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|22/32|c.4045-79G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18097;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44083037;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,13:16:74:428,0,74
chr1	43617439	rs571862	C	T	749.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.667;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-0.098;SOR=0.468;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs571862;dbSNPBuildID=83;ANN=T|splice_region_variant&intron_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|23/33|c.4072-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|24/34|c.3238-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|26/36|c.3262-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|22/32|c.3220-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|20/30|c.3160-6C>T||||||,T|splice_region_variant&intron_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|22/32|c.4045-6C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3693;p3_1000G_AF=0.73742;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=19561;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.7167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44083110;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4040,366;ESP6500_AA_AGE=793.0+/-415.2;ESP6500_AA_GTC=1857,326,20;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=75;ESP6500_EA_AC=6432,2168;ESP6500_EA_AGE=713.2+/-405.9;ESP6500_EA_GTC=2442,1548,310;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:intron,NM_002840.3:intron;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43617439;ESP6500_GTC=4299,1874,330;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.4045-6C>T,NM_002840.3:c.4072-6C>T;ESP6500_MAF=25.2093,8.3069,19.4833;ESP6500_TAC=10472,2534	GT:AD:DP:GQ:PL	0/1:20,27:47:99:778,0,599
chr1	43617836	rs641365	T	C	724.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.474;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=2.063;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.019;SOR=0.456;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs641365;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|25/34|c.4296T>C|p.Gly1432Gly|4652/7749|4296/5724|1432/1907||,C|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|26/35|c.3462T>C|p.Gly1154Gly|3796/6893|3462/4890|1154/1629||,C|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|28/37|c.3486T>C|p.Gly1162Gly|3820/6917|3486/4914|1162/1637||,C|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|24/33|c.3444T>C|p.Gly1148Gly|3800/6897|3444/4872|1148/1623||,C|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|22/31|c.3384T>C|p.Gly1128Gly|3740/6837|3384/4812|1128/1603||,C|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|24/33|c.4269T>C|p.Gly1423Gly|4625/7722|4269/5697|1423/1898||;p3_1000G_AA=C|||;p3_1000G_AC=3692;p3_1000G_AF=0.73722;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=20262;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.7157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44083507;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4040,366;ESP6500_AA_AGE=186.7+/-213.5;ESP6500_AA_GTC=1857,326,20;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=-7.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=52;ESP6500_EA_AC=6432,2168;ESP6500_EA_AGE=370.8+/-336.0;ESP6500_EA_GTC=2441,1550,309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:coding-synonymous,NM_002840.3:coding-synonymous;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43617836;ESP6500_GTC=4298,1876,329;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.4269T>C,NM_002840.3:c.4296T>C;ESP6500_HGVS_PROTEIN_VAR=NM_130440.2:p.(G1423),NM_002840.3:p.(G1432);ESP6500_MAF=25.2093,8.3069,19.4833;ESP6500_TAC=10472,2534	GT:AD:DP:GQ:PL	0/1:37,31:68:99:753,0,947
chr1	43617848	rs641351	G	A	747.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.595;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.062;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.217;SOR=0.469;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs641351;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|25/34|c.4308G>A|p.Arg1436Arg|4664/7749|4308/5724|1436/1907||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|26/35|c.3474G>A|p.Arg1158Arg|3808/6893|3474/4890|1158/1629||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|28/37|c.3498G>A|p.Arg1166Arg|3832/6917|3498/4914|1166/1637||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|24/33|c.3456G>A|p.Arg1152Arg|3812/6897|3456/4872|1152/1623||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|22/31|c.3396G>A|p.Arg1132Arg|3752/6837|3396/4812|1132/1603||,A|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|24/33|c.4281G>A|p.Arg1427Arg|4637/7722|4281/5697|1427/1898||;p3_1000G_AA=A|||;p3_1000G_AC=3692;p3_1000G_AF=0.73722;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=19953;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.7157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44083519;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4040,366;ESP6500_AA_AGE=186.7+/-213.5;ESP6500_AA_GTC=1857,326,20;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=53;ESP6500_EA_AC=6431,2169;ESP6500_EA_AGE=370.0+/-335.7;ESP6500_EA_GTC=2440,1551,309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:coding-synonymous,NM_002840.3:coding-synonymous;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43617848;ESP6500_GTC=4297,1877,329;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.4281G>A,NM_002840.3:c.4308G>A;ESP6500_HGVS_PROTEIN_VAR=NM_130440.2:p.(R1427),NM_002840.3:p.(R1436);ESP6500_MAF=25.2209,8.3069,19.491;ESP6500_TAC=10471,2535	GT:AD:DP:GQ:PL	0/1:35,32:67:99:776,0,1002
chr1	43619068	rs1143701	C	T	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.432;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.565;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1143701;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|27/34|c.4512C>T|p.Arg1504Arg|4868/7749|4512/5724|1504/1907||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|28/35|c.3678C>T|p.Arg1226Arg|4012/6893|3678/4890|1226/1629||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|30/37|c.3702C>T|p.Arg1234Arg|4036/6917|3702/4914|1234/1637||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|26/33|c.3660C>T|p.Arg1220Arg|4016/6897|3660/4872|1220/1623||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|24/31|c.3600C>T|p.Arg1200Arg|3956/6837|3600/4812|1200/1603||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|26/33|c.4485C>T|p.Arg1495Arg|4841/7722|4485/5697|1495/1898||;p3_1000G_AA=T|||;p3_1000G_AC=3693;p3_1000G_AF=0.73742;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=16146;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.7167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44084739;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4040,366;ESP6500_AA_AGE=186.7+/-213.5;ESP6500_AA_GTC=1857,326,20;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=6431,2169;ESP6500_EA_AGE=370.9+/-336.0;ESP6500_EA_GTC=2440,1551,309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:coding-synonymous,NM_002840.3:coding-synonymous;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43619068;ESP6500_GTC=4297,1877,329;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.4485C>T,NM_002840.3:c.4512C>T;ESP6500_HGVS_PROTEIN_VAR=NM_130440.2:p.(R1495),NM_002840.3:p.(R1504);ESP6500_MAF=25.2209,8.3069,19.491;ESP6500_TAC=10471,2535	GT:AD:DP:GQ:PL	0/1:14,16:30:99:395,0,345
chr1	43620409	rs568639	T	C	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.848;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=-0.446;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs568639;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|30/33|c.5239-45T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|31/34|c.4405-45T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|33/36|c.4429-45T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|29/32|c.4387-45T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|27/30|c.4327-45T>C||||||,C|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|29/32|c.5212-45T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3694;p3_1000G_AF=0.73762;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=18181;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44086080;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4040,366;ESP6500_AA_AGE=773.0+/-413.9;ESP6500_AA_GTC=1858,324,21;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=34;ESP6500_EA_AC=6440,2158;ESP6500_EA_AGE=703.0+/-405.3;ESP6500_EA_GTC=2455,1530,314;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:intron,NM_002840.3:intron;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43620409;ESP6500_GTC=4313,1854,335;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.5212-45T>C,NM_002840.3:c.5239-45T>C;ESP6500_MAF=25.0989,8.3069,19.4094;ESP6500_TAC=10480,2524	GT:AD:DP:GQ:PL	0/1:14,23:37:99:755,0,402
chr1	43621160	rs1143702	C	T	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.028;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=5.324;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.228;SOR=0.803;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1143702;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|33/34|c.5583C>T|p.Tyr1861Tyr|5939/7749|5583/5724|1861/1907||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|34/35|c.4749C>T|p.Tyr1583Tyr|5083/6893|4749/4890|1583/1629||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|36/37|c.4773C>T|p.Tyr1591Tyr|5107/6917|4773/4914|1591/1637||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|32/33|c.4731C>T|p.Tyr1577Tyr|5087/6897|4731/4872|1577/1623||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|30/31|c.4671C>T|p.Tyr1557Tyr|5027/6837|4671/4812|1557/1603||,T|synonymous_variant|LOW|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|32/33|c.5556C>T|p.Tyr1852Tyr|5912/7722|5556/5697|1852/1898||;p3_1000G_AA=c|||;p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=22363;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.6441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44086831;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2561,1845;ESP6500_AA_AGE=634.9+/-396.3;ESP6500_AA_GTC=749,1063,391;ESP6500_CDS_SIZES=NM_130440.2:5697,NM_002840.3:5724;ESP6500_CG=-9.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=73;ESP6500_EA_AC=5727,2873;ESP6500_EA_AGE=672.1+/-402.9;ESP6500_EA_GTC=1938,1851,511;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130440.2:coding-synonymous,NM_002840.3:coding-synonymous;ESP6500_GL=PTPRF;ESP6500_GRCh38_POSITION=1:43621160;ESP6500_GTC=2687,2914,902;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_130440.2:c.5556C>T,NM_002840.3:c.5583C>T;ESP6500_HGVS_PROTEIN_VAR=NM_130440.2:p.(Y1852),NM_002840.3:p.(Y1861);ESP6500_MAF=33.407,41.8747,36.2756;ESP6500_TAC=8288,4718	GT:AD:DP:GQ:PL	0/1:29,28:57:99:678,0,863
chr1	43621825	rs673485	C	T	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.634;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-1.568;SOR=0.506;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs673485;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_002840.4|protein_coding|33/33|c.5656-110C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329137.1|protein_coding|34/34|c.4822-110C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329138.1|protein_coding|36/36|c.4846-110C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329139.1|protein_coding|32/32|c.4804-110C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_001329140.1|protein_coding|30/30|c.4744-110C>T||||||,T|intron_variant|MODIFIER|PTPRF|PTPRF|transcript|NM_130440.3|protein_coding|32/32|c.5629-110C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3720;p3_1000G_AF=0.742812;p3_1000G_AFR_AF=0.9463;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=19101;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.7346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44087496;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,15:40:99:414,0,810
chr1	43653367	rs3215842;rs397702627	A	AT	158.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.068;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.137;SOR=2.093;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3215842;dbSNPBuildID=135,138;ANN=AT|intron_variant|MODIFIER|KDM4A|KDM4A|transcript|NM_014663.2|protein_coding|2/21|c.138+61dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;p3_1000G_AC=1887;p3_1000G_AF=0.376797;p3_1000G_AFR_AF=0.4516;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=18376;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44119038;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,8:16:99:196,0,197
chr1	43660291	rs3215843;rs397782558	CA	C	308.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.633;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.906;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.39;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3215843;dbSNPBuildID=132,138;ANN=C|splice_acceptor_variant&intron_variant|HIGH|KDM4A|KDM4A|transcript|NM_014663.2|protein_coding|3/21|c.315-2delA||||||INFO_REALIGN_3_PRIME;LOF=(KDM4A|KDM4A|1|1.00);p3_1000G_AA=AAAA|AAAAA|AAAA|insertion;p3_1000G_AC=2743;p3_1000G_AF=0.547724;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=20888;p3_1000G_EAS_AF=0.5278;p3_1000G_EUR_AF=0.3897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44125962;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,13:26:99:346,0,346
chr1	43671586	rs586339	C	A	737.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs586339;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|KDM4A|KDM4A|transcript|NM_014663.2|protein_coding|11/22|c.1445C>A|p.Ala482Glu|1611/4509|1445/3195|482/1064||;p3_1000G_AA=A|||;p3_1000G_AC=3707;p3_1000G_AF=0.740216;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=19489;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.7028;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44137257;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4063,343;ESP6500_AA_AGE=178.7+/-207.4;ESP6500_AA_GTC=1878,307,18;ESP6500_CDS_SIZES=NM_014663.2:3195;ESP6500_CG=4.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=97;ESP6500_EA_AC=6268,2332;ESP6500_EA_AGE=390.7+/-343.4;ESP6500_EA_GTC=2319,1630,351;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014663.2:missense;ESP6500_GL=KDM4A;ESP6500_GRCh38_POSITION=1:43671586;ESP6500_GS=107;ESP6500_GTC=4197,1937,369;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_014663.2:c.1445C>A;ESP6500_HGVS_PROTEIN_VAR=NM_014663.2:p.(A482E);ESP6500_MAF=27.1163,7.7848,20.5674;ESP6500_PH=benign:0.0;ESP6500_TAC=10331,2675	GT:AD:DP:GQ:PL	1/1:0,25:25:75:766,75,0
chr1	43814753	rs3791064	T	G	965.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3791064;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|3/12|c.212-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|3/11|c.167-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|3/10|c.167-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|2/8|c.119-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|2/7|c.119-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|2/7|c.164-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|2/7|c.119-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|2/7|c.164-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|2/4|c.119-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|3/11|c.167-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|3/11|c.212-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|3/6|c.212-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|3/9|c.167-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|3/6|c.167-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|3/12|c.167-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|2/10|c.119-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|2/5|c.119-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|2/11|c.119-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|3/11|n.358-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|2/9|n.310-23466T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|3/10|n.358-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|2/8|n.309+78373T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|2/9|n.310-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|3/9|n.358-138T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|3/8|n.358-138T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2028;p3_1000G_AF=0.404952;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=22710;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44280425;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:994,90,0
chr1	43838114	rs541017207	C	CAAAA	170.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.66;QD=31.68;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=142;ANN=CAAAA|upstream_gene_variant|MODIFIER|MIR6079|MIR6079|transcript|NR_106727.1|pseudogene||n.-508_-507insAAAA|||||507|,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|5/12|c.417-92_417-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|4/11|c.210-92_210-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|4/10|c.209+23194_209+23197dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|3/8|c.162-92_162-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|3/7|c.161+23194_161+23197dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|3/7|c.207-92_207-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|3/7|c.162-92_162-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|3/7|c.207-92_207-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|3/4|c.162-92_162-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|4/11|c.210-92_210-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|4/11|c.255-92_255-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|4/6|c.255-92_255-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|4/9|c.210-92_210-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|4/6|c.210-92_210-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|5/12|c.372-92_372-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|3/10|c.162-92_162-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|3/5|c.162-92_162-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|4/11|c.324-92_324-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|4/11|n.401-92_401-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|2/9|n.310-92_310-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|4/10|n.401-92_401-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|2/8|n.310-56256_310-56253dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|3/9|n.353-92_353-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|4/9|n.401-92_401-89dupAAAA||||||INFO_REALIGN_3_PRIME,CAAAA|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|4/8|n.401-92_401-89dupAAAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:17:178,17,0
chr1	43858064	rs2906465	T	C	884.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.03;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2906465;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|6/12|c.509+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|5/11|c.302+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|4/10|c.210-36319T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|4/8|c.254+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|3/7|c.162-36319T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|4/7|c.299+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|4/7|c.254+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|4/7|c.299+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|4/4|c.254+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|5/11|c.302+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|5/11|c.347+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|5/6|c.347+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|5/9|c.302+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|5/6|c.302+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|6/12|c.464+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|4/10|c.254+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|4/5|c.254+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|5/11|c.416+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|5/11|n.493+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|3/9|n.402+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|5/10|n.493+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|2/8|n.310-36319T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|4/9|n.445+19753T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|5/9|n.494-71T>C||||||,C|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|5/8|n.493+19753T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4436;p3_1000G_AF=0.885783;p3_1000G_AFR_AF=0.9788;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=19733;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44323736;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:913,78,0
chr1	43858388	rs3011226	G	A	414.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3011226;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|6/12|c.509+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|5/11|c.302+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|4/10|c.210-35995G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|4/8|c.254+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|3/7|c.162-35995G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|4/7|c.299+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|4/7|c.254+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|4/7|c.299+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|4/4|c.254+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|5/11|c.302+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|5/11|c.347+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|5/6|c.347+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|5/9|c.302+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|5/6|c.302+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|6/12|c.464+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|4/10|c.254+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|4/5|c.254+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|5/11|c.416+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|5/11|n.493+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|3/9|n.402+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|5/10|n.493+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|2/8|n.310-35995G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|4/9|n.445+20077G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|6/9|n.667+80G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|5/8|n.493+20077G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4433;p3_1000G_AF=0.885184;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=21184;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44324060;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:443,36,0
chr1	43878915	rs529344433	G	A	537.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.495;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-0.025;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|6/12|c.510-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|5/11|c.303-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|4/10|c.210-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|4/8|c.255-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|3/7|c.162-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|4/7|c.300-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|4/7|c.255-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|4/7|c.300-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|4/4|c.254+40604G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|5/11|c.303-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|5/11|c.348-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|5/6|c.348-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|5/9|c.303-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|5/6|c.303-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|6/12|c.465-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|4/10|c.255-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|4/5|c.255-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|5/11|c.417-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|5/11|n.494-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|3/9|n.403-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|5/10|n.494-420G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|2/8|n.310-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|4/9|n.446-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|6/9|n.668-15468G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|5/8|n.494-15468G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19784;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44344587;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,20:33:99:566,0,385
chr1	43920633	rs3120802	C	T	427.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3120802;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|11/12|c.1098+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|10/11|c.801+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|9/10|c.798+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|8/8|c.697-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|7/7|c.604-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|7/7|c.555-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|7/7|c.510-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|7/7|c.*23-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|4/4|c.255-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|10/11|c.891+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|10/11|c.936+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|6/6|c.443-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|9/9|c.745-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|6/6|c.398-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|11/12|c.1053+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|9/10|c.843+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|5/5|c.350-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|10/11|c.1005+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|10/11|n.1114+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|8/9|n.991+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|10/10|n.1109-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|7/8|n.930+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|8/9|n.847+83C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|9/9|n.923-9499C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|7/8|n.735+83C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3755;p3_1000G_AF=0.7498;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=13946;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.9115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44386305;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:41:456,41,0
chr1	43920943	rs3120803;262909	A	G	1533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3120803;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|12/12|c.1245+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|11/11|c.948+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|10/10|c.945+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|8/8|c.697-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|7/7|c.604-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|7/7|c.555-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|7/7|c.510-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|7/7|c.*23-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|4/4|c.255-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|11/11|c.1038+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|11/11|c.1083+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|6/6|c.443-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|9/9|c.745-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|6/6|c.398-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|12/12|c.1200+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|10/10|c.990+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|5/5|c.350-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|11/11|c.1152+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|11/11|n.1261+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|9/9|n.1138+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|10/10|n.1109-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|8/8|n.1077+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|9/9|n.994+15A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|9/9|n.923-9189A>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|8/8|n.882+15A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4052;p3_1000G_AF=0.809105;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=14630;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.9115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44386615;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3115,1291;ESP6500_AA_GTC=1095,925,183;ESP6500_CDS_SIZES=NM_174971.3:1242,NM_174970.2:420,NM_174969.2:1080,NM_174968.3:1290,NM_174967.2:468,NM_174966.2:834,NM_174965.2:513,NM_174964.2:1173,NM_174963.3:1335,NM_006279.3:1128,NM_001270466.1:306,NM_001270465.1:558,NM_001270464.1:561,NM_001270463.1:606,NM_001270462.1:693,NM_001270461.1:786,NM_001270460.1:1035,NM_001270459.1:1038;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=33;ESP6500_EA_AC=7944,654;ESP6500_EA_GTC=3673,598,28;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174971.3:intron,NM_174970.2:intron,NM_174969.2:intron,NM_174968.3:intron,NM_174967.2:intron,NM_174966.2:intron,NM_174965.2:intron,NM_174964.2:intron,NM_174963.3:intron,NM_006279.3:intron,NM_001270466.1:intron,NM_001270465.1:intron,NM_001270464.1:intron,NM_001270463.1:intron,NM_001270462.1:intron,NM_001270461.1:intron,NM_001270460.1:intron,NM_001270459.1:intron;ESP6500_GL=ST3GAL3;ESP6500_GRCh38_POSITION=1:43920943;ESP6500_GTC=4768,1523,211;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_174971.3:c.1152+15A>G,NM_174970.2:c.350-9189A>G,NM_174969.2:c.990+15A>G,NM_174968.3:c.1200+15A>G,NM_174967.2:c.398-9189A>G,NM_174966.2:c.745-9189A>G,NM_174965.2:c.443-9189A>G,NM_174964.2:c.1083+15A>G,NM_174963.3:c.1245+15A>G,NM_006279.3:c.1038+15A>G,NM_001270466.1:c.255-9189A>G,NM_001270465.1:c.*21676A>G,NM_001270464.1:c.510-9189A>G,NM_001270463.1:c.555-9189A>G,NM_001270462.1:c.604-9189A>G,NM_001270461.1:c.697-9189A>G,NM_001270460.1:c.945+15A>G,NM_001270459.1:c.948+15A>G;ESP6500_MAF=7.6064,29.301,14.9569;ESP6500_TAC=11059,1945;CLINVAR_ALLELEID=249955;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.43920943A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ST3GAL3:6487;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3120803	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1562,147,0
chr1	43921556	rs1636876	T	G	1820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1636876;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|12/12|c.1245+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|11/11|c.948+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|10/10|c.945+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|8/8|c.697-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|7/7|c.604-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|7/7|c.555-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|7/7|c.510-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|7/7|c.*23-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|4/4|c.255-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|11/11|c.1038+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|11/11|c.1083+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|6/6|c.443-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|9/9|c.745-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|6/6|c.398-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|12/12|c.1200+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|10/10|c.990+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|5/5|c.350-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|11/11|c.1152+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|11/11|n.1261+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|9/9|n.1138+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|10/10|n.1109-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|8/8|n.1077+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|9/9|n.994+628T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|9/9|n.923-8576T>G||||||,G|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|8/8|n.882+628T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=3813;p3_1000G_AF=0.761382;p3_1000G_AFR_AF=0.469;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=19528;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.9115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44387228;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1849,180,0
chr1	43929938	rs550229379	G	A	900.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.779;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=5.362;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.262;SOR=0.264;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|upstream_gene_variant|MODIFIER|ARTN|ARTN|transcript|NM_001136215.1|protein_coding||c.-5719G>A|||||3382|,A|upstream_gene_variant|MODIFIER|ARTN|ARTN|transcript|NM_057090.2|protein_coding||c.-5719G>A|||||3382|,A|upstream_gene_variant|MODIFIER|ARTN|ARTN|transcript|NM_057091.2|protein_coding||c.-5719G>A|||||3382|,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|12/12|c.1246-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|11/11|c.949-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|10/10|c.946-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|8/8|c.697-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|7/7|c.604-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|7/7|c.555-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|7/7|c.510-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|7/7|c.*23-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|4/4|c.255-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|11/11|c.1039-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|11/11|c.1084-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|6/6|c.443-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|9/9|c.745-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|6/6|c.398-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|12/12|c.1201-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|10/10|c.991-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|5/5|c.350-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|11/11|c.1153-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|11/11|n.1262-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|9/9|n.1139-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|10/10|n.1109-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|8/8|n.1078-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|9/9|n.995-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|9/9|n.923-194G>A||||||,A|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|8/8|n.883-194G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21125;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44395610;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,37:69:99:929,0,1012
chr1	43930114	rs2108202;262910	C	T	3166.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2108202;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|ARTN|ARTN|transcript|NM_001136215.1|protein_coding||c.-5543C>T|||||3206|,T|upstream_gene_variant|MODIFIER|ARTN|ARTN|transcript|NM_057090.2|protein_coding||c.-5543C>T|||||3206|,T|upstream_gene_variant|MODIFIER|ARTN|ARTN|transcript|NM_057091.2|protein_coding||c.-5543C>T|||||3206|,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding|12/12|c.1246-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding|11/11|c.949-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding|10/10|c.946-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding|8/8|c.697-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding|7/7|c.604-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding|7/7|c.555-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding|7/7|c.510-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding|7/7|c.*23-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding|4/4|c.255-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding|11/11|c.1039-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding|11/11|c.1084-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding|6/6|c.443-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding|9/9|c.745-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding|6/6|c.398-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding|12/12|c.1201-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding|10/10|c.991-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding|5/5|c.350-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding|11/11|c.1153-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene|11/11|n.1262-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene|9/9|n.1139-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene|10/10|n.1109-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene|8/8|n.1078-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene|9/9|n.995-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene|9/9|n.923-18C>T||||||,T|intron_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene|8/8|n.883-18C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2598;p3_1000G_AF=0.51877;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=23946;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.7594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44395786;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6084;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1055,3351;ESP6500_AA_AGE=386.3+/-326.1;ESP6500_AA_GTC=138,779,1286;ESP6500_CDS_SIZES=NM_174971.3:1242,NM_174970.2:420,NM_174969.2:1080,NM_174968.3:1290,NM_174967.2:468,NM_174966.2:834,NM_174965.2:513,NM_174964.2:1173,NM_174963.3:1335,NM_006279.3:1128,NM_001270466.1:306,NM_001270465.1:558,NM_001270464.1:561,NM_001270463.1:606,NM_001270462.1:693,NM_001270461.1:786,NM_001270460.1:1035,NM_001270459.1:1038;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=183;ESP6500_EA_AC=6695,1905;ESP6500_EA_AGE=727.2+/-406.6;ESP6500_EA_GTC=2625,1445,230;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174971.3:intron,NM_174970.2:intron,NM_174969.2:intron,NM_174968.3:intron,NM_174967.2:intron,NM_174966.2:intron,NM_174965.2:intron,NM_174964.2:intron,NM_174963.3:intron,NM_006279.3:intron,NM_001270466.1:intron,NM_001270465.1:intron,NM_001270464.1:intron,NM_001270463.1:intron,NM_001270462.1:intron,NM_001270461.1:intron,NM_001270460.1:intron,NM_001270459.1:intron;ESP6500_GL=ST3GAL3;ESP6500_GRCh38_POSITION=1:43930114;ESP6500_GTC=2763,2224,1516;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_174971.3:c.1153-18C>T,NM_174970.2:c.350-18C>T,NM_174969.2:c.991-18C>T,NM_174968.3:c.1201-18C>T,NM_174967.2:c.398-18C>T,NM_174966.2:c.745-18C>T,NM_174965.2:c.443-18C>T,NM_174964.2:c.1084-18C>T,NM_174963.3:c.1246-18C>T,NM_006279.3:c.1039-18C>T,NM_001270466.1:c.255-18C>T,NM_001270465.1:c.*30847C>T,NM_001270464.1:c.510-18C>T,NM_001270463.1:c.555-18C>T,NM_001270462.1:c.604-18C>T,NM_001270461.1:c.697-18C>T,NM_001270460.1:c.946-18C>T,NM_001270459.1:c.949-18C>T;ESP6500_MAF=22.1512,23.9446,40.4121;ESP6500_TAC=7750,5256;CLINVAR_ALLELEID=249956;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.43930114C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ST3GAL3:6487;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2108202	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3195,290,0
chr1	43935712	rs2242637	A	G	1511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=1.39;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2242637;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|ARTN|ARTN|transcript|NM_001136215.1|protein_coding|2/4|c.56A>G|p.Gln19Arg|689/1795|56/687|19/228||,G|missense_variant|MODERATE|ARTN|ARTN|transcript|NM_057090.2|protein_coding|3/5|c.56A>G|p.Gln19Arg|838/1944|56/687|19/228||,G|missense_variant|MODERATE|ARTN|ARTN|transcript|NM_057091.2|protein_coding|3/5|c.56A>G|p.Gln19Arg|838/1920|56/663|19/220||,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174963.3|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270459.1|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270460.1|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270461.1|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270462.1|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270463.1|protein_coding||c.*5529A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270464.1|protein_coding||c.*5529A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270465.1|protein_coding||c.*36445A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_001270466.1|protein_coding||c.*5529A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_006279.3|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174964.2|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174965.2|protein_coding||c.*5510A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174966.2|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174967.2|protein_coding||c.*5510A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174968.3|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174969.2|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174970.2|protein_coding||c.*5510A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NM_174971.3|protein_coding||c.*5491A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073016.1|pseudogene||n.*4547A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073017.1|pseudogene||n.*4547A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073018.1|pseudogene||n.*4547A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073019.1|pseudogene||n.*4547A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073020.1|pseudogene||n.*4547A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073021.1|pseudogene||n.*4547A>G|||||4547|,G|downstream_gene_variant|MODIFIER|ST3GAL3|ST3GAL3|transcript|NR_073023.1|pseudogene||n.*4547A>G|||||4547|;p3_1000G_AA=G|||;p3_1000G_AC=4191;p3_1000G_AF=0.836861;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=18495;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.9115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44401384;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8814;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3391,1015;ESP6500_AA_AGE=371.5+/-320.0;ESP6500_AA_GTC=1297,797,109;ESP6500_CDS_SIZES=NM_057091.2:663,NM_057090.2:687,NM_001136215.1:687;ESP6500_CG=1.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=58;ESP6500_EA_AC=7952,648;ESP6500_EA_AGE=163.6+/-216.1;ESP6500_EA_GTC=3679,594,27;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_057091.2:missense,NM_057090.2:missense,NM_001136215.1:missense;ESP6500_GL=ARTN;ESP6500_GRCh38_POSITION=1:43935712;ESP6500_GS=43,43,43;ESP6500_GTC=4976,1391,136;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_057091.2:c.56A>G,NM_057090.2:c.56A>G,NM_001136215.1:c.56A>G;ESP6500_HGVS_PROTEIN_VAR=NM_057091.2:p.(Q19R),NM_057090.2:p.(Q19R),NM_001136215.1:p.(Q19R);ESP6500_MAF=7.5349,23.0368,12.7864;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=11343,1663	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1540,150,0
chr1	43949743	rs2240447	C	T	3290.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.92;SOR=0.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2240447;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|IPO13|IPO13|transcript|NM_014652.3|protein_coding|2/20|c.411C>T|p.Asp137Asp|1206/4027|411/2892|137/963||;p3_1000G_AA=C|||;p3_1000G_AC=2530;p3_1000G_AF=0.505192;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=20937;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44415415;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=901,3505;ESP6500_AA_AGE=348.0+/-309.7;ESP6500_AA_GTC=101,699,1403;ESP6500_CDS_SIZES=NM_014652.3:2892;ESP6500_CG=-9.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=71;ESP6500_EA_AC=6752,1848;ESP6500_EA_AGE=730.0+/-406.7;ESP6500_EA_GTC=2666,1420,214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014652.3:coding-synonymous;ESP6500_GL=IPO13;ESP6500_GRCh38_POSITION=1:43949743;ESP6500_GTC=2767,2119,1617;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014652.3:c.411C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014652.3:p.(D137);ESP6500_MAF=21.4884,20.4494,41.1579;ESP6500_TAC=7653,5353	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3319,329,0
chr1	43960353	rs2301993	G	A	1683.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.159;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2301993;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IPO13|IPO13|transcript|NM_014652.3|protein_coding|12/19|c.2109+24G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2709;p3_1000G_AF=0.540935;p3_1000G_AFR_AF=0.2269;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=20866;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44426025;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1386,3020;ESP6500_AA_AGE=457.6+/-351.7;ESP6500_AA_GTC=233,920,1050;ESP6500_CDS_SIZES=NM_014652.3:2892;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=155;ESP6500_EA_AC=6750,1850;ESP6500_EA_AGE=730.0+/-406.7;ESP6500_EA_GTC=2663,1424,213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014652.3:intron;ESP6500_GL=IPO13;ESP6500_GRCh38_POSITION=1:43960353;ESP6500_GTC=2896,2344,1263;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014652.3:c.2109+24G>A;ESP6500_MAF=21.5116,31.4571,37.4443;ESP6500_TAC=8136,4870	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1712,165,0
chr1	43961276	rs2906596	G	A	3070.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=1.54;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2906596;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|IPO13|IPO13|transcript|NM_014652.3|protein_coding|14/19|c.2344+14G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4115;p3_1000G_AF=0.821685;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.8646;p3_1000G_AN=5008;p3_1000G_DP=17104;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.9155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44426948;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3153,1253;ESP6500_AA_AGE=428.7+/-342.0;ESP6500_AA_GTC=1128,897,178;ESP6500_CDS_SIZES=NM_014652.3:2892;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=94;ESP6500_EA_AC=8037,563;ESP6500_EA_AGE=152.1+/-206.7;ESP6500_EA_GTC=3756,525,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014652.3:intron;ESP6500_GL=IPO13;ESP6500_GRCh38_POSITION=1:43961276;ESP6500_GTC=4884,1422,197;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014652.3:c.2344+14G>A;ESP6500_MAF=6.5465,28.4385,13.9628;ESP6500_TAC=11190,1816	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3099,300,0
chr1	43966828	rs4660759	C	G	1716.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4660759;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001384.4|protein_coding||c.-3348C>G|||||3153|,G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001039589.1|protein_coding||c.-3348C>G|||||3153|,G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319165.1|protein_coding||c.-3849C>G|||||3153|,G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319166.1|protein_coding||c.-3348C>G|||||3153|,G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319167.1|protein_coding||c.-4654C>G|||||3153|,G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319168.1|protein_coding||c.-3849C>G|||||3153|,G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319169.1|protein_coding||c.-3802C>G|||||3153|,G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319170.1|protein_coding||c.-4654C>G|||||3153|,G|upstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319171.1|protein_coding||c.-4353C>G|||||3153|,G|intron_variant|MODIFIER|IPO13|IPO13|transcript|NM_014652.3|protein_coding|17/19|c.2523+46C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2729;p3_1000G_AF=0.544928;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=16786;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44432500;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA_AC=1416,2990;ESP6500_AA_AGE=677.4+/-403.4;ESP6500_AA_GTC=240,936,1027;ESP6500_CDS_SIZES=NM_014652.3:2892;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=48;ESP6500_EA_AC=6749,1851;ESP6500_EA_AGE=327.3+/-317.8;ESP6500_EA_GTC=2665,1419,216;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014652.3:intron;ESP6500_GL=IPO13;ESP6500_GRCh38_POSITION=1:43966828;ESP6500_GTC=2905,2355,1243;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014652.3:c.2523+46C>G;ESP6500_MAF=21.5233,32.138,37.2213;ESP6500_TAC=8165,4841	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1745,144,0
chr1	43976849	rs12410334	A	C	681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.09;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12410334;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_030587.2|protein_coding||c.-3163A>C|||||3087|,C|upstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_003780.4|protein_coding||c.-4312A>C|||||2353|,C|upstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_001005417.2|protein_coding||c.-4312A>C|||||3656|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001384.4|protein_coding||c.*4310A>C|||||3478|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001039589.1|protein_coding||c.*4310A>C|||||3478|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319165.1|protein_coding||c.*4310A>C|||||3478|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319166.1|protein_coding||c.*4310A>C|||||3478|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319167.1|protein_coding||c.*4310A>C|||||3478|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319168.1|protein_coding||c.*4310A>C|||||3478|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319169.1|protein_coding||c.*4310A>C|||||3478|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319170.1|protein_coding||c.*4310A>C|||||3478|,C|downstream_gene_variant|MODIFIER|DPH2|DPH2|transcript|NM_001319171.1|protein_coding||c.*4310A>C|||||3478|,C|intron_variant|MODIFIER|ATP6V0B|ATP6V0B|transcript|NM_001294333.1|protein_coding|6/6|c.400+25A>C||||||,C|intron_variant|MODIFIER|ATP6V0B|ATP6V0B|transcript|NM_001039457.2|protein_coding|5/6|c.259+25A>C||||||,C|intron_variant|MODIFIER|ATP6V0B|ATP6V0B|transcript|NM_004047.4|protein_coding|6/7|c.400+25A>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2801;p3_1000G_AF=0.559305;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=21922;p3_1000G_EAS_AF=0.7361;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44442521;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6933;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=998,3408;ESP6500_AA_AGE=368.1+/-318.5;ESP6500_AA_GTC=134,730,1339;ESP6500_CDS_SIZES=NM_004047.3:618,NM_001039457.1:477;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=7046,1554;ESP6500_EA_AGE=738.1+/-407.0;ESP6500_EA_GTC=2905,1236,159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004047.3:intron,NM_001039457.1:intron;ESP6500_GL=ATP6V0B;ESP6500_GRCh38_POSITION=1:43976849;ESP6500_GTC=3039,1966,1498;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_004047.3:c.400+25A>C,NM_001039457.1:c.259+25A>C;ESP6500_MAF=18.0698,22.6509,38.1516;ESP6500_TAC=8044,4962	GT:AD:DP:GQ:PL	1/1:0,20:20:60:710,60,0
chr1	43985452	rs75761202	G	T	117.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75761202;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_030587.2|protein_coding|5/6|c.950+52G>T||||||,T|intron_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_003780.4|protein_coding|5/6|c.863+52G>T||||||,T|intron_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_001005417.2|protein_coding|5/6|c.863+52G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2064;p3_1000G_AF=0.412141;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=3672;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.5437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44451124;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:145,12,0
chr1	43991543	rs12403025	G	A	364.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12403025;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|CCDC24|CCDC24|transcript|NM_152499.2|protein_coding||c.-336G>A|||||65|,A|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_030587.2|protein_coding||c.*1095G>A|||||372|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_201649.3|protein_coding||c.*6002C>T|||||4940|,A|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_003780.4|protein_coding||c.*1095G>A|||||372|,A|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_001005417.2|protein_coding||c.*1095G>A|||||372|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001261380.1|protein_coding||c.*6002C>T|||||4940|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328627.1|protein_coding||c.*6002C>T|||||4940|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328628.1|protein_coding||c.*6002C>T|||||4940|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_006934.3|protein_coding||c.*6002C>T|||||4940|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NR_048548.1|pseudogene||n.*4940C>T|||||4940|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328629.1|protein_coding||c.*6002C>T|||||4940|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001024845.2|protein_coding||c.*6002C>T|||||4940|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328626.1|protein_coding||c.*6002C>T|||||4940|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328630.1|protein_coding||c.*6002C>T|||||4940|,A|intergenic_region|MODIFIER|B4GALT2-CCDC24|B4GALT2-CCDC24|intergenic_region|B4GALT2-CCDC24|||n.43991543G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2568;p3_1000G_AF=0.51278;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=12564;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.7316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44457215;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:393,33,0
chr1	43991633	rs12403036	G	A	757.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12403036;dbSNPBuildID=120;ANN=A|5_prime_UTR_variant|MODIFIER|CCDC24|CCDC24|transcript|NM_152499.2|protein_coding|1/9|c.-146G>A|||||246|,A|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_030587.2|protein_coding||c.*1185G>A|||||462|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_201649.3|protein_coding||c.*5912C>T|||||4850|,A|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_003780.4|protein_coding||c.*1185G>A|||||462|,A|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_001005417.2|protein_coding||c.*1185G>A|||||462|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001261380.1|protein_coding||c.*5912C>T|||||4850|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328627.1|protein_coding||c.*5912C>T|||||4850|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328628.1|protein_coding||c.*5912C>T|||||4850|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_006934.3|protein_coding||c.*5912C>T|||||4850|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NR_048548.1|pseudogene||n.*4850C>T|||||4850|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328629.1|protein_coding||c.*5912C>T|||||4850|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001024845.2|protein_coding||c.*5912C>T|||||4850|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328626.1|protein_coding||c.*5912C>T|||||4850|,A|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328630.1|protein_coding||c.*5912C>T|||||4850|;p3_1000G_AA=G|||;p3_1000G_AC=2567;p3_1000G_AF=0.51258;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=12400;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.7316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44457305;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:786,78,0
chr1	43992067	rs11376967;rs397818582	T	TC	822.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=1.708;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11376967,rs72513267;dbSNPBuildID=132,138;ANN=TC|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_030587.2|protein_coding||c.*1619_*1620insC|||||897|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_201649.3|protein_coding||c.*5477dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_003780.4|protein_coding||c.*1619_*1620insC|||||897|,TC|downstream_gene_variant|MODIFIER|B4GALT2|B4GALT2|transcript|NM_001005417.2|protein_coding||c.*1619_*1620insC|||||897|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001261380.1|protein_coding||c.*5477dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328627.1|protein_coding||c.*5477dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328628.1|protein_coding||c.*5477dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_006934.3|protein_coding||c.*5477dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NR_048548.1|pseudogene||n.*4415dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328629.1|protein_coding||c.*5477dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001024845.2|protein_coding||c.*5477dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328626.1|protein_coding||c.*5477dupG|||||4415|,TC|downstream_gene_variant|MODIFIER|SLC6A9|SLC6A9|transcript|NM_001328630.1|protein_coding||c.*5477dupG|||||4415|,TC|intron_variant|MODIFIER|CCDC24|CCDC24|transcript|NM_152499.2|protein_coding|2/8|c.126+64dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=11225;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44457739;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,23:23:69:860,69,0
chr1	44130707	rs200059598;rs34057178	CCAA	C	1582.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.54;SOR=2.432;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34057178,rs200059598;dbSNPBuildID=126,137;ANN=C|disruptive_inframe_deletion|MODERATE|KLF17|KLF17|transcript|NM_173484.3|protein_coding|3/4|c.1131_1133delCAA|p.Asn378del|1189/3128|1131/1170|377/389||INFO_REALIGN_3_PRIME;p3_1000G_AC=1153;p3_1000G_AF=0.230232;p3_1000G_AFR_AF=0.0719;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=21631;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44596379;p3_1000G_GRCH37_REF=CCAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=INDEL;ESP6500_AA_AC=430,3836;ESP6500_AA_GTC=27,376,1730;ESP6500_CDS_SIZES=NM_173484.3:1170;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=87;ESP6500_EA_AC=1593,6661;ESP6500_EA_GTC=149,1295,2683;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173484.3:coding;ESP6500_GL=KLF17;ESP6500_GRCh38_POSITION=1:44130707;ESP6500_GTC=176,1671,4413;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_173484.3:c.1122_1124del3;ESP6500_HGVS_PROTEIN_VAR=NM_173484.3:p.(A374_N375delinsA);ESP6500_MAF=19.2997,10.0797,16.1581;ESP6500_TAC=2023,10497	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1620,109,0
chr1	44130786	rs543264945	CTTTTTCCT	C	187.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.736;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=2.03;SOR=1.371;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|KLF17|KLF17|transcript|NM_173484.3|protein_coding|3/3|c.1170+43_1170+50delTCCTTTTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20664;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44596458;p3_1000G_GRCH37_REF=CTTTTTCCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL;ESP6500_AA_AC=17,4249;ESP6500_AA_GTC=0,17,2116;ESP6500_CDS_SIZES=NM_173484.3:1170;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DP=38;ESP6500_EA_AC=2,8252;ESP6500_EA_GTC=0,2,4125;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173484.3:intron;ESP6500_GL=KLF17;ESP6500_GRCh38_POSITION=1:44130786;ESP6500_GTC=0,19,6241;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_173484.3:c.*31_*38del8;ESP6500_MAF=0.0242,0.3985,0.1518;ESP6500_TAC=19,12501	GT:AD:DP:GQ:PL	0/1:9,6:15:99:225,0,345
chr1	44137834	rs2429060	C	T	1711.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=2.221;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2429060;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|KLF17|KLF17|transcript|NM_173484.3|protein_coding||c.*7078C>T|||||2697|,T|intergenic_region|MODIFIER|KLF17-DMAP1|KLF17-DMAP1|intergenic_region|KLF17-DMAP1|||n.44137834C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2275;p3_1000G_AF=0.454273;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=19587;p3_1000G_EAS_AF=0.3016;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44603506;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1740,168,0
chr1	44138073	rs2485651	T	G	1118.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2485651;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|KLF17|KLF17|transcript|NM_173484.3|protein_coding||c.*7317T>G|||||2936|,G|intergenic_region|MODIFIER|KLF17-DMAP1|KLF17-DMAP1|intergenic_region|KLF17-DMAP1|||n.44138073T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3635;p3_1000G_AF=0.725839;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=20284;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44603745;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1147,96,0
chr1	44138609	rs113756460;rs61473384	G	GGGGCTTTGTAAA	314.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113756460,rs61473384;dbSNPBuildID=132,129;ANN=GGGGCTTTGTAAA|downstream_gene_variant|MODIFIER|KLF17|KLF17|transcript|NM_173484.3|protein_coding||c.*7853_*7854insGGGCTTTGTAAA|||||3473|,GGGGCTTTGTAAA|intergenic_region|MODIFIER|KLF17-DMAP1|KLF17-DMAP1|intergenic_region|KLF17-DMAP1|||n.44138609_44138610insGGGCTTTGTAAA||||||;p3_1000G_AC=3613;p3_1000G_AF=0.721446;p3_1000G_AFR_AF=0.8949;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=18356;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44604281;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:24:352,24,0
chr1	44139048	rs368966417	T	TCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC	862.25	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.041;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.86;MQRankSum=-4.613;QD=35.04;ReadPosRankSum=-2.601;SOR=1.179;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=TCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC|downstream_gene_variant|MODIFIER|KLF17|KLF17|transcript|NM_173484.3|protein_coding||c.*8292_*8293insCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC|||||3912|,TCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC|intergenic_region|MODIFIER|KLF17-DMAP1|KLF17-DMAP1|intergenic_region|KLF17-DMAP1|||n.44139048_44139049insCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC||||||	GT:AD:DP:GQ:PL	0/1:19,4:23:9:899,0,9
chr1	44139334	rs2485649	G	A	2710.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.495;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.91;MQRankSum=2.52;QD=23.78;ReadPosRankSum=1.07;SOR=0.844;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2485649;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|KLF17|KLF17|transcript|NM_173484.3|protein_coding||c.*8578G>A|||||4197|,A|intergenic_region|MODIFIER|KLF17-DMAP1|KLF17-DMAP1|intergenic_region|KLF17-DMAP1|||n.44139334G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1703;p3_1000G_AF=0.340056;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=22189;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44605006;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:2,112:114:99:2739,281,0
chr1	44140582	rs2429057	C	T	1127.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.06;QD=28.19;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2429057;dbSNPBuildID=100;ANN=T|intergenic_region|MODIFIER|KLF17-DMAP1|KLF17-DMAP1|intergenic_region|KLF17-DMAP1|||n.44140582C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3573;p3_1000G_AF=0.713458;p3_1000G_AFR_AF=0.8691;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=18899;p3_1000G_EAS_AF=0.5774;p3_1000G_EUR_AF=0.6004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44606254;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1156,117,0
chr1	44140893	rs2022028	A	G	6052.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=184;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.83;QD=32.9;SOR=0.807;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2022028;dbSNPBuildID=94;ANN=G|intergenic_region|MODIFIER|KLF17-DMAP1|KLF17-DMAP1|intergenic_region|KLF17-DMAP1|||n.44140893A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3622;p3_1000G_AF=0.723243;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=21999;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.6024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44606565;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,184:184:99:6081,550,0
chr1	44213884	rs803369	A	G	812.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.471;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=3.334;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.437;SOR=1.164;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs803369;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_001034023.1|protein_coding|2/10|c.105+26A>G||||||,G|intron_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_001034024.1|protein_coding|2/10|c.105+26A>G||||||,G|intron_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_019100.4|protein_coding|1/9|c.105+26A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3580;p3_1000G_AF=0.714856;p3_1000G_AFR_AF=0.9153;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=20423;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.6024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44679556;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3804,592;ESP6500_AA_GTC=1645,514,39;ESP6500_CDS_SIZES=NM_019100.4:1404,NM_001034024.1:1404,NM_001034023.1:1404;ESP6500_CG=4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=24;ESP6500_EA_AC=5372,3206;ESP6500_EA_GTC=1698,1976,615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019100.4:intron,NM_001034024.1:intron,NM_001034023.1:intron;ESP6500_GL=DMAP1;ESP6500_GRCh38_POSITION=1:44213884;ESP6500_GTC=3343,2490,654;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019100.4:c.105+26A>G,NM_001034024.1:c.105+26A>G,NM_001034023.1:c.105+26A>G;ESP6500_MAF=37.3747,13.4668,29.2739;ESP6500_TAC=9176,3798	GT:AD:DP:GQ:PL	0/1:33,34:67:99:841,0,785
chr1	44215047	rs4660780	G	C	129.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.41;ReadPosRankSum=-0.958;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660780;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_001034023.1|protein_coding|4/10|c.393+149G>C||||||,C|intron_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_001034024.1|protein_coding|4/10|c.393+149G>C||||||,C|intron_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_019100.4|protein_coding|3/9|c.393+149G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1083;p3_1000G_AF=0.216254;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=21814;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.1829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44680719;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,7:24:99:158,0,568
chr1	44220650	rs12419	T	C	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=1.28;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12419;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_001034023.1|protein_coding|11/11|c.*32T>C|||||32|,C|3_prime_UTR_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_001034024.1|protein_coding|11/11|c.*32T>C|||||32|,C|3_prime_UTR_variant|MODIFIER|DMAP1|DMAP1|transcript|NM_019100.4|protein_coding|10/10|c.*32T>C|||||32|,C|downstream_gene_variant|MODIFIER|ERI3|ERI3|transcript|NM_024066.2|protein_coding||c.*908A>G|||||420|,C|downstream_gene_variant|MODIFIER|ERI3|ERI3|transcript|NM_001301698.1|protein_coding||c.*908A>G|||||420|,C|downstream_gene_variant|MODIFIER|ERI3|ERI3|transcript|NM_001301699.1|protein_coding||c.*908A>G|||||420|,C|downstream_gene_variant|MODIFIER|ERI3|ERI3|transcript|NM_001301700.1|protein_coding||c.*961A>G|||||420|,C|downstream_gene_variant|MODIFIER|ERI3|ERI3|transcript|NM_001301701.1|protein_coding||c.*908A>G|||||420|,C|downstream_gene_variant|MODIFIER|ERI3-IT1|ERI3-IT1|transcript|NR_110056.1|pseudogene||n.*1945A>G|||||1945|;p3_1000G_AA=T|||;p3_1000G_AC=1373;p3_1000G_AF=0.274161;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=21093;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.2584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44686322;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=900,3506;ESP6500_AA_AGE=343.8+/-307.8;ESP6500_AA_GTC=91,718,1394;ESP6500_CDS_SIZES=NM_019100.4:1404,NM_001034024.1:1404,NM_001034023.1:1404;ESP6500_CG=2.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=33;ESP6500_EA_AC=2571,6029;ESP6500_EA_AGE=412.5+/-350.8;ESP6500_EA_GTC=385,1801,2114;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019100.4:utr-3,NM_001034024.1:utr-3,NM_001034023.1:utr-3;ESP6500_GL=DMAP1;ESP6500_GRCh38_POSITION=1:44220650;ESP6500_GTC=476,2519,3508;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_019100.4:c.*32T>C,NM_001034024.1:c.*32T>C,NM_001034023.1:c.*32T>C;ESP6500_MAF=29.8953,20.4267,26.6877;ESP6500_TAC=3471,9535	GT:AD:DP:GQ:PL	0/1:11,14:25:99:405,0,268
chr1	44322726	rs161721	A	T	302.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.64;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs161721;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ERI3|ERI3|transcript|NM_024066.2|protein_coding|3/8|c.490-2982T>A||||||,T|intron_variant|MODIFIER|ERI3|ERI3|transcript|NM_001301698.1|protein_coding|2/7|c.256-2982T>A||||||,T|intron_variant|MODIFIER|ERI3|ERI3|transcript|NM_001301699.1|protein_coding|2/7|c.256-2982T>A||||||,T|intron_variant|MODIFIER|ERI3|ERI3|transcript|NM_001301700.1|protein_coding|3/7|c.256-2982T>A||||||,T|intron_variant|MODIFIER|ERI3|ERI3|transcript|NM_001301701.1|protein_coding|2/7|c.-42-2982T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=19891;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44788398;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:331,27,0
chr1	44614389	rs415707	C	T	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-0.191;SOR=0.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs415707;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|RNF220|RNF220|transcript|NM_001319956.1|protein_coding|3/14|c.758+92C>T||||||,T|intron_variant|MODIFIER|RNF220|RNF220|transcript|NM_018150.3|protein_coding|3/14|c.758+92C>T||||||,T|intron_variant|MODIFIER|RNF220|RNF220|transcript|NM_001319957.1|protein_coding|2/13|c.41+92C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=785;p3_1000G_AF=0.156749;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=14748;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45080061;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:121,0,255
chr1	44700841	rs2355710	T	A	104.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.96;ReadPosRankSum=-0.253;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2355710;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|C1orf228|C1orf228|transcript|NM_001145636.1|protein_coding|4/11|c.443-82T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2056;p3_1000G_AF=0.410543;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=16241;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.2227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45166513;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:23:133,0,23
chr1	44704039	rs374584525	TA	T	36.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.001;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=0.884;SOR=0.527;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs374584525;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|C1orf228|C1orf228|transcript|NM_001145636.1|protein_coding|5/11|c.640-36delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:22,6:28:74:74,0,469
chr1	44775441	rs11211031	T	C	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=-0.804;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11211031;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|RPS8|RPS8|transcript|NM_001012.1|protein_coding||c.-156T>C|||||133|,C|upstream_gene_variant|MODIFIER|SNORD55|SNORD55|transcript|NR_000015.2|pseudogene||n.-424T>C|||||424|,C|upstream_gene_variant|MODIFIER|SNORD46|SNORD46|transcript|NR_000024.2|pseudogene||n.-1051T>C|||||1051|,C|upstream_gene_variant|MODIFIER|SNORD38A|SNORD38A|transcript|NR_001456.1|pseudogene||n.-2401T>C|||||2401|,C|upstream_gene_variant|MODIFIER|SNORD38B|SNORD38B|transcript|NR_001457.1|pseudogene||n.-2949T>C|||||2949|,C|intergenic_region|MODIFIER|KIF2C-RPS8|KIF2C-RPS8|intergenic_region|KIF2C-RPS8|||n.44775441T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2317;p3_1000G_AF=0.46266;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=15697;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45241113;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:286,0,129
chr1	44775702	rs3806398	G	A	129.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.029;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-3.091;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806398;dbSNPBuildID=107;ANN=A|sequence_feature|LOW|RPS8|RPS8|lipidation-site:N-myristoyl_glycine|NM_001012.1|protein_coding|1/5|c.4+102G>A||||||,A|upstream_gene_variant|MODIFIER|SNORD55|SNORD55|transcript|NR_000015.2|pseudogene||n.-163G>A|||||163|,A|upstream_gene_variant|MODIFIER|SNORD46|SNORD46|transcript|NR_000024.2|pseudogene||n.-790G>A|||||790|,A|upstream_gene_variant|MODIFIER|SNORD38A|SNORD38A|transcript|NR_001456.1|pseudogene||n.-2140G>A|||||2140|,A|upstream_gene_variant|MODIFIER|SNORD38B|SNORD38B|transcript|NR_001457.1|pseudogene||n.-2688G>A|||||2688|,A|intron_variant|MODIFIER|RPS8|RPS8|transcript|NM_001012.1|protein_coding|1/5|c.4+102G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=745;p3_1000G_AF=0.148762;p3_1000G_AFR_AF=0.0719;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=11994;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45241374;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:158,0,280
chr1	44784335	rs59895800	C	G	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.2;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.549;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59895800;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|BEST4|BEST4|transcript|NM_153274.2|protein_coding|9/9|c.1297G>C|p.Val433Leu|1346/2096|1297/1422|433/473||;p3_1000G_AA=C|||;p3_1000G_AC=717;p3_1000G_AF=0.143171;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=8622;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.2078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45250007;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:143,0,139
chr1	44786343	rs41269079	T	A	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.125;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.42;ReadPosRankSum=-0.445;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41269079;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|BEST4|BEST4|transcript|NM_153274.2|protein_coding|3/8|c.482-115A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=691;p3_1000G_AF=0.137979;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=14994;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45252015;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,4:16:99:99,0,335
chr1	44800501	rs566229457	T	G	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.674;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|missense_variant|MODERATE|PLK3|PLK3|transcript|NM_004073.3|protein_coding|1/15|c.38T>G|p.Phe13Cys|277/2497|38/1941|13/646||;p3_1000G_AA=t|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=7825;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45266173;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:59:77,0,59
chr1	44801203	rs1301082025;~rs55930125	CTT	C	23.72	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=11.86;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|downstream_gene_variant|MODIFIER|TCTEX1D4|TCTEX1D4|transcript|NM_001013632.3|protein_coding||c.*4798_*4799delAA|||||4706|,C|intron_variant|MODIFIER|PLK3|PLK3|transcript|NM_004073.3|protein_coding|3/14|c.435+74_435+75delTT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=450,118,964;ESP6500_AA_GTC=208,6,28,49,14,461;ESP6500_CDS_SIZES=NM_004073.2:1941,NM_004073.2:1941;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=16;ESP6500_EA_AC=1220,302,1652;ESP6500_EA_GTC=570,32,48,120,30,787;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004073.2:intron,NM_004073.2:intron;ESP6500_GL=PLK3;ESP6500_GRCh38_POSITION=1:44801203;ESP6500_GTC=778,38,76,169,44,1248;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_004073.2:c.435+52_435+53del2,NM_004073.2:c.435+51_435+52insT;ESP6500_MAF=47.9521,37.0757,44.4114;ESP6500_TAC=1670,420,2616	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0
chr1	44802710	rs12404160	G	A	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.256;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.15;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12404160;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|TCTEX1D4|TCTEX1D4|transcript|NM_001013632.3|protein_coding||c.*3293C>T|||||3200|,A|intron_variant|MODIFIER|PLK3|PLK3|transcript|NM_004073.3|protein_coding|5/14|c.654-50G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=660;p3_1000G_AF=0.131789;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=17926;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45268382;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=431,3975;ESP6500_AA_AGE=200.8+/-224.0;ESP6500_AA_GTC=27,377,1799;ESP6500_CDS_SIZES=NM_004073.2:1941;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=34;ESP6500_EA_AC=1446,7152;ESP6500_EA_AGE=262.8+/-284.6;ESP6500_EA_GTC=137,1172,2990;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004073.2:intron;ESP6500_GL=PLK3;ESP6500_GRCh38_POSITION=1:44802710;ESP6500_GTC=164,1549,4789;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004073.2:c.654-50G>A;ESP6500_MAF=16.8179,9.7821,14.434;ESP6500_TAC=1877,11127	GT:AD:DP:GQ:PL	0/1:12,14:26:99:388,0,290
chr1	44806077	rs568010226	C	T	1333.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.819;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=0.738;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.136;SOR=0.578;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|missense_variant|MODERATE|TCTEX1D4|TCTEX1D4|transcript|NM_001013632.3|protein_coding|2/2|c.592G>A|p.Gly198Arg|1101/1268|592/666|198/221||,T|upstream_gene_variant|MODIFIER|BTBD19|BTBD19|transcript|NM_001136537.1|protein_coding||c.-2744C>T|||||2405|,T|downstream_gene_variant|MODIFIER|PLK3|PLK3|transcript|NM_004073.3|protein_coding||c.*399C>T|||||82|;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=11993;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45271749;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1362,0,1321
chr1	44806156	rs17885815	T	C	1515.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.99;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=3.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=1.2;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17885815;dbSNPBuildID=124;ANN=C|synonymous_variant|LOW|TCTEX1D4|TCTEX1D4|transcript|NM_001013632.3|protein_coding|2/2|c.513A>G|p.Val171Val|1022/1268|513/666|171/221||,C|upstream_gene_variant|MODIFIER|BTBD19|BTBD19|transcript|NM_001136537.1|protein_coding||c.-2665T>C|||||2326|,C|downstream_gene_variant|MODIFIER|PLK3|PLK3|transcript|NM_004073.3|protein_coding||c.*478T>C|||||161|;p3_1000G_AA=C|||;p3_1000G_AC=682;p3_1000G_AF=0.136182;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=11465;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45271828;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=415,3851;ESP6500_AA_GTC=26,363,1744;ESP6500_CDS_SIZES=NM_001013632.2:666;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_124;ESP6500_DP=8;ESP6500_EA_AC=1263,7055;ESP6500_EA_GTC=105,1053,3001;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013632.2:coding-synonymous;ESP6500_GL=TCTEX1D4;ESP6500_GRCh38_POSITION=1:44806156;ESP6500_GTC=131,1416,4745;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001013632.2:c.513A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001013632.2:p.(V171);ESP6500_MAF=15.1839,9.7281,13.3344;ESP6500_TAC=1678,10906	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1544,0,1167
chr1	44812422	rs4073112	T	C	479.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.459;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.77;SOR=0.807;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4073112;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|BTBD19|BTBD19|transcript|NM_001136537.1|protein_coding|4/7|c.414+324T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1175;p3_1000G_AF=0.234625;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=18305;p3_1000G_EAS_AF=0.2014;p3_1000G_EUR_AF=0.1779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45278094;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,23:51:99:508,0,639
chr1	44827194	rs2295996	G	A	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.234;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.13;SOR=0.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2295996;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|PTCH2|PTCH2|transcript|NM_003738.4|protein_coding|16/22|c.2487C>T|p.Asp829Asp|2499/3773|2487/3612|829/1203||,A|synonymous_variant|LOW|PTCH2|PTCH2|transcript|NM_001166292.1|protein_coding|16/23|c.2487C>T|p.Asp829Asp|2499/4298|2487/3441|829/1146||;p3_1000G_AA=G|||;p3_1000G_AC=740;p3_1000G_AF=0.147764;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=16193;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45292866;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=378,4028;ESP6500_AA_AGE=190.2+/-216.2;ESP6500_AA_GTC=15,348,1840;ESP6500_CDS_SIZES=NM_003738.4:3612,NM_001166292.1:3441;ESP6500_CG=-1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=1436,7164;ESP6500_EA_AGE=275.7+/-291.9;ESP6500_EA_GTC=134,1168,2998;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003738.4:coding-synonymous,NM_001166292.1:coding-synonymous;ESP6500_GL=PTCH2;ESP6500_GRCh38_POSITION=1:44827194;ESP6500_GTC=149,1516,4838;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003738.4:c.2487C>T,NM_001166292.1:c.2487C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003738.4:p.(D829),NM_001166292.1:p.(D829);ESP6500_MAF=16.6977,8.5792,13.9474;ESP6500_TAC=1814,11192	GT:AD:DP:GQ:PL	0/1:14,14:28:99:389,0,410
chr1	44827846	rs7525308	A	G	776.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=1.15;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7525308;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|PTCH2|PTCH2|transcript|NM_003738.4|protein_coding|14/22|c.2055T>C|p.Ala685Ala|2067/3773|2055/3612|685/1203||,G|synonymous_variant|LOW|PTCH2|PTCH2|transcript|NM_001166292.1|protein_coding|14/23|c.2055T>C|p.Ala685Ala|2067/4298|2055/3441|685/1146||;p3_1000G_AA=G|||;p3_1000G_AC=2231;p3_1000G_AF=0.445487;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=21976;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45293518;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2576,1830;ESP6500_AA_AGE=533.1+/-373.6;ESP6500_AA_GTC=765,1046,392;ESP6500_CDS_SIZES=NM_003738.4:3612,NM_001166292.1:3441;ESP6500_CG=2.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=56;ESP6500_EA_AC=2944,5656;ESP6500_EA_AGE=667.7+/-402.5;ESP6500_EA_GTC=524,1896,1880;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003738.4:coding-synonymous,NM_001166292.1:coding-synonymous;ESP6500_GL=PTCH2;ESP6500_GRCh38_POSITION=1:44827846;ESP6500_GTC=1289,2942,2272;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003738.4:c.2055T>C,NM_001166292.1:c.2055T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003738.4:p.(A685),NM_001166292.1:p.(A685);ESP6500_MAF=34.2326,41.5343,42.4419;ESP6500_TAC=5520,7486	GT:AD:DP:GQ:PL	0/1:26,28:54:99:805,0,695
chr1	44828484	rs2273940	T	C	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.049;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.896;SOR=0.421;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273940;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PTCH2|PTCH2|transcript|NM_003738.4|protein_coding|12/21|c.1590+22A>G||||||,C|intron_variant|MODIFIER|PTCH2|PTCH2|transcript|NM_001166292.1|protein_coding|12/22|c.1590+22A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2220;p3_1000G_AF=0.443291;p3_1000G_AFR_AF=0.593;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=19461;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45294156;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2536,1870;ESP6500_AA_AGE=537.0+/-374.6;ESP6500_AA_GTC=748,1040,415;ESP6500_CDS_SIZES=NM_003738.4:3612,NM_001166292.1:3441;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=54;ESP6500_EA_AC=2946,5654;ESP6500_EA_AGE=666.9+/-402.4;ESP6500_EA_GTC=525,1896,1879;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003738.4:intron,NM_001166292.1:intron;ESP6500_GL=PTCH2;ESP6500_GRCh38_POSITION=1:44828484;ESP6500_GTC=1273,2936,2294;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003738.4:c.1590+22A>G,NM_001166292.1:c.1590+22A>G;ESP6500_MAF=34.2558,42.4421,42.1498;ESP6500_TAC=5482,7524	GT:AD:DP:GQ:PL	0/1:21,15:36:99:388,0,613
chr1	44841834	rs3795720	G	A	555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.28;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.707;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795720;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PTCH2|PTCH2|transcript|NM_003738.4|protein_coding|2/21|c.265+13C>T||||||,A|intron_variant|MODIFIER|PTCH2|PTCH2|transcript|NM_001166292.1|protein_coding|2/22|c.265+13C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1863;p3_1000G_AF=0.372005;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=20925;p3_1000G_EAS_AF=0.4454;p3_1000G_EUR_AF=0.3151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45307506;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1454,2952;ESP6500_AA_AGE=469.2+/-355.4;ESP6500_AA_GTC=212,1030,961;ESP6500_CDS_SIZES=NM_003738.4:3612,NM_001166292.1:3441;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=2956,5644;ESP6500_EA_AGE=459.8+/-365.0;ESP6500_EA_GTC=519,1918,1863;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003738.4:intron,NM_001166292.1:intron;ESP6500_GL=PTCH2;ESP6500_GRCh38_POSITION=1:44841834;ESP6500_GTC=731,2948,2824;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003738.4:c.265+13C>T,NM_001166292.1:c.265+13C>T;ESP6500_MAF=34.3721,33.0005,33.9074;ESP6500_TAC=4410,8596	GT:AD:DP:GQ:PL	0/1:21,22:43:99:584,0,586
chr1	44842737	rs6696675	G	A	414.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.391;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.093;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.273;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6696675;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PTCH2|PTCH2|transcript|NM_003738.4|protein_coding|1/21|c.72+124C>T||||||,A|intron_variant|MODIFIER|PTCH2|PTCH2|transcript|NM_001166292.1|protein_coding|1/22|c.72+124C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2260;p3_1000G_AF=0.451278;p3_1000G_AFR_AF=0.6104;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=16734;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45308409;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,17:32:99:443,0,453
chr1	44874610	rs9988451	C	T	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.491;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.129;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9988451;dbSNPBuildID=119;ANN=T|3_prime_UTR_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_001166588.2|protein_coding|10/10|c.*31G>A|||||31|,T|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_020365.4|protein_coding|10/11|c.1202+68G>A||||||,T|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_001261418.1|protein_coding|10/10|c.1202+68G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2262;p3_1000G_AF=0.451677;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=20087;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.3211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45340282;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=814,570;ESP6500_AA_GTC=247,320,125;ESP6500_CDS_SIZES=NM_020365.4:1359,NM_001261418.1:1206,NM_001166588.2:1239;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=43;ESP6500_EA_AC=1103,2079;ESP6500_EA_GTC=208,687,696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020365.4:intron,NM_001261418.1:intron,NM_001166588.2:utr-3;ESP6500_GL=EIF2B3;ESP6500_GRCh38_POSITION=1:44874610;ESP6500_GTC=455,1007,821;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020365.4:c.1202+68G>A,NM_001261418.1:c.1202+68G>A,NM_001166588.2:c.*31G>A;ESP6500_MAF=34.6637,41.185,41.9842;ESP6500_TAC=1917,2649	GT:AD:DP:GQ:PL	0/1:10,13:23:99:326,0,291
chr1	44879774	rs3738248;261223	T	A	640.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=-0.85;SOR=0.57;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738248;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_020365.4|protein_coding|8/11|c.975+44A>T||||||,A|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_001261418.1|protein_coding|8/10|c.975+44A>T||||||,A|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_001166588.2|protein_coding|8/9|c.975+44A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=725;p3_1000G_AF=0.144768;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=20444;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45345446;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=523,3883;ESP6500_AA_AGE=238.7+/-250.0;ESP6500_AA_GTC=30,463,1710;ESP6500_CDS_SIZES=NM_020365.4:1359,NM_001261418.1:1206,NM_001166588.2:1239;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=66;ESP6500_EA_AC=1499,7101;ESP6500_EA_AGE=283.7+/-296.3;ESP6500_EA_GTC=142,1215,2943;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020365.4:intron,NM_001261418.1:intron,NM_001166588.2:intron;ESP6500_GL=EIF2B3;ESP6500_GRCh38_POSITION=1:44879774;ESP6500_GTC=172,1678,4653;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_020365.4:c.975+44A>T,NM_001261418.1:c.975+44A>T,NM_001166588.2:c.975+44A>T;ESP6500_MAF=17.4302,11.8702,15.5467;ESP6500_TAC=2022,10984;CLINVAR_AF_ESP=0.1555;CLINVAR_AF_EXAC=0.16287;CLINVAR_AF_TGP=0.1448;CLINVAR_ALLELEID=249958;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.44879774T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=EIF2B3:8891;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3738248	GT:AD:DP:GQ:PL	0/1:14,22:36:99:669,0,355
chr1	44897320	rs263978;261222	T	C	4154.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=136;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs263978;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_020365.4|protein_coding|6/11|c.656+35A>G||||||,C|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_001261418.1|protein_coding|6/10|c.656+35A>G||||||,C|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_001166588.2|protein_coding|6/9|c.656+35A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3962;p3_1000G_AF=0.791134;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=17929;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45362992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3923,483;ESP6500_AA_AGE=223.3+/-239.8;ESP6500_AA_GTC=1751,421,31;ESP6500_CDS_SIZES=NM_020365.4:1359,NM_001261418.1:1206,NM_001166588.2:1239;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=66;ESP6500_EA_AC=4675,3925;ESP6500_EA_AGE=536.3+/-383.0;ESP6500_EA_GTC=1292,2091,917;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020365.4:intron,NM_001261418.1:intron,NM_001166588.2:intron;ESP6500_GL=EIF2B3;ESP6500_GRCh38_POSITION=1:44897320;ESP6500_GTC=3043,2512,948;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020365.4:c.656+35A>G,NM_001261418.1:c.656+35A>G,NM_001166588.2:c.656+35A>G;ESP6500_MAF=45.6395,10.9623,33.892;ESP6500_TAC=8598,4408;CLINVAR_ALLELEID=249960;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.44897320T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=EIF2B3:8891;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=263978	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4183,408,0
chr1	44969820	rs399628	C	A	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs399628;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_020365.4|protein_coding|3/11|c.294+8495G>T||||||,A|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_001261418.1|protein_coding|3/10|c.294+8495G>T||||||,A|intron_variant|MODIFIER|EIF2B3|EIF2B3|transcript|NM_001166588.2|protein_coding|3/9|c.294+8495G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2391;p3_1000G_AF=0.477436;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=16465;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.3757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45435492;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:60:60,0,74
chr1	45003483	rs11548990	C	T	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.74;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.071;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11548990;dbSNPBuildID=120;ANN=T|3_prime_UTR_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding|21/21|c.*9G>A|||||9|;p3_1000G_AA=C|||;p3_1000G_AC=416;p3_1000G_AF=0.0830671;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=21283;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.0676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45469155;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=381,3947;ESP6500_AA_GTC=16,349,1799;ESP6500_CDS_SIZES=NM_024602.5:2586;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=59;ESP6500_EA_AC=470,8034;ESP6500_EA_GTC=12,446,3794;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024602.5:utr-3;ESP6500_GL=HECTD3;ESP6500_GRCh38_POSITION=1:45003483;ESP6500_GTC=28,795,5593;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024602.5:c.*9G>A;ESP6500_MAF=5.5268,8.8031,6.6319;ESP6500_TAC=851,11981	GT:AD:DP:GQ:PL	0/1:16,19:35:99:457,0,515
chr1	45003914	rs41312020	G	A	800.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.481;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=1.95;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.679;SOR=0.57;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41312020;dbSNPBuildID=127;ANN=A|synonymous_variant|LOW|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding|19/21|c.2370C>T|p.Arg790Arg|2468/3628|2370/2586|790/861||;p3_1000G_AA=G|||;p3_1000G_AC=419;p3_1000G_AF=0.0836661;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=19432;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.0676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45469586;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=361,3773;ESP6500_AA_GTC=15,331,1721;ESP6500_CDS_SIZES=NM_024602.5:2586;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=49;ESP6500_EA_AC=455,7899;ESP6500_EA_GTC=12,431,3734;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024602.5:coding-synonymous;ESP6500_GL=HECTD3;ESP6500_GRCh38_POSITION=1:45003914;ESP6500_GTC=27,762,5455;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024602.5:c.2370C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024602.5:p.(R790);ESP6500_MAF=5.4465,8.7325,6.5343;ESP6500_TAC=816,11672	GT:AD:DP:GQ:PL	0/1:43,31:74:99:829,0,1364
chr1	45004458	rs7528534	T	C	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.5;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.685;SOR=0.951;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7528534;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding|16/20|c.2143-81A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4489;p3_1000G_AF=0.896366;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=20184;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45470130;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,12:27:99:436,0,444
chr1	45007126	rs147908761	TTGTGTGTG	T	869.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.23;SOR=0.776;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs147908761,rs67456297,rs10545690;dbSNPBuildID=134;ANN=T|upstream_gene_variant|MODIFIER|UROD|UROD|transcript|NM_000374.4|protein_coding||c.-5139_-5132delTGTGTGTG|||||5006|,T|upstream_gene_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene||n.-5006_-4999delTGTGTGTG|||||5006|,T|intron_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding|11/20|c.1556+85_1556+92delCACACACA||||||;p3_1000G_AC=4961;p3_1000G_AF=0.990615;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18984;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45472798;p3_1000G_GRCH37_REF=TTGTGTGTG;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,20:20:68:876,68,0
chr1	45007644	rs4660830	C	T	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=4.301;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=0.291;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660830;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|UROD|UROD|transcript|NM_000374.4|protein_coding||c.-4622C>T|||||4489|,T|upstream_gene_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene||n.-4489C>T|||||4489|,T|intron_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding|9/20|c.1321-49G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3230;p3_1000G_AF=0.644968;p3_1000G_AFR_AF=0.6551;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=19105;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.7147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45473316;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2757,1371;ESP6500_AA_GTC=922,913,229;ESP6500_CDS_SIZES=NM_024602.5:2586;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=15;ESP6500_EA_AC=5862,2522;ESP6500_EA_GTC=2074,1714,404;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024602.5:intron;ESP6500_GL=HECTD3;ESP6500_GRCh38_POSITION=1:45007644;ESP6500_GTC=2996,2627,633;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024602.5:c.1321-49G>A;ESP6500_MAF=30.0811,33.2122,31.1141;ESP6500_TAC=8619,3893	GT:AD:DP:GQ:PL	0/1:19,9:28:99:214,0,469
chr1	45008485	rs2298006	G	A	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.338;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.899;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.213;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298006;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|UROD|UROD|transcript|NM_000374.4|protein_coding||c.-3781G>A|||||3648|,A|upstream_gene_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene||n.-3648G>A|||||3648|,A|intron_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding|8/20|c.1238+51C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2855;p3_1000G_AF=0.570088;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=20160;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45474157;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1713,2297;ESP6500_AA_GTC=383,947,675;ESP6500_CDS_SIZES=NM_024602.5:2586;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=5811,2535;ESP6500_EA_GTC=2047,1717,409;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024602.5:intron;ESP6500_GL=HECTD3;ESP6500_GRCh38_POSITION=1:45008485;ESP6500_GTC=2430,2664,1084;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024602.5:c.1238+51C>T;ESP6500_MAF=30.3738,42.7182,39.1065;ESP6500_TAC=7524,4832	GT:AD:DP:GQ:PL	0/1:13,8:21:99:259,0,437
chr1	45009894	rs6429552	A	G	356.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6429552;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|UROD|UROD|transcript|NM_000374.4|protein_coding||c.-2372A>G|||||2239|,G|upstream_gene_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene||n.-2239A>G|||||2239|,G|intron_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding|4/20|c.759+92T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19711;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45475566;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:385,27,0
chr1	45013827	rs2234480	G	C	1233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.329;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=2.866;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.086;SOR=0.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2234480;dbSNPBuildID=98;ANN=C|upstream_gene_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding||c.-2570C>G|||||2472|,C|downstream_gene_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding||c.*4627C>G|||||2577|,C|intron_variant|MODIFIER|UROD|UROD|transcript|NM_000374.4|protein_coding|5/9|c.474+36G>C||||||,C|intron_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene|5/9|n.657+36G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=478;p3_1000G_AF=0.0954473;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=20066;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45479499;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=629,3777;ESP6500_AA_AGE=271.6+/-270.3;ESP6500_AA_GTC=45,539,1619;ESP6500_CDS_SIZES=NM_000374.4:1104;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=97;ESP6500_EA_AC=483,8117;ESP6500_EA_AGE=141.1+/-197.5;ESP6500_EA_GTC=12,459,3829;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000374.4:intron;ESP6500_GL=UROD;ESP6500_GRCh38_POSITION=1:45013827;ESP6500_GTC=57,998,5448;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000374.4:c.474+36G>C;ESP6500_MAF=5.6163,14.276,8.5499;ESP6500_TAC=1112,11894	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1262,0,1203
chr1	45014037	rs2228084;255961	A	G	659.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-1.157;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228084;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|UROD|UROD|transcript|NM_000374.4|protein_coding|6/10|c.603A>G|p.Pro201Pro|736/1408|603/1104|201/367||,G|upstream_gene_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding||c.-2780T>C|||||2682|,G|downstream_gene_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding||c.*4417T>C|||||2367|,G|non_coding_transcript_exon_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene|6/10|n.786A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=478;p3_1000G_AF=0.0954473;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=19586;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.0646;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45479709;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=629,3777;ESP6500_AA_AGE=271.6+/-270.3;ESP6500_AA_GTC=45,539,1619;ESP6500_CDS_SIZES=NM_000374.4:1104;ESP6500_CG=-10.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=88;ESP6500_EA_AC=483,8117;ESP6500_EA_AGE=140.9+/-197.4;ESP6500_EA_GTC=12,459,3829;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000374.4:coding-synonymous;ESP6500_GL=UROD;ESP6500_GRCh38_POSITION=1:45014037;ESP6500_GTC=57,998,5448;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000374.4:c.603A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000374.4:p.(P201);ESP6500_MAF=5.6163,14.276,8.5499;ESP6500_TAC=1112,11894;CLINVAR_AF_ESP=0.0855;CLINVAR_AF_EXAC=0.07480;CLINVAR_AF_TGP=0.0955;CLINVAR_ALLELEID=249962;CLINVAR_CLNDISDB=MedGen:C0162566,Orphanet:ORPHA101330,SNOMED_CT:61860000|MedGen:CN169374;CLINVAR_CLNDN=Porphyria_cutanea_tarda|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.45014037A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:60004;CLINVAR_GENEINFO=UROD:7389;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2228084	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,22:37:99:0|1:45014037_A_G:688,0,439
chr1	45015061	rs6429553	C	T	1967.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=1.249;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6429553;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|HECTD3|HECTD3|transcript|NM_024602.5|protein_coding||c.-3804G>A|||||3706|,T|downstream_gene_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding||c.*3393G>A|||||1343|,T|intron_variant|MODIFIER|UROD|UROD|transcript|NM_000374.4|protein_coding|9/9|c.942+55C>T||||||,T|intron_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene|9/9|n.1125+55C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4971;p3_1000G_AF=0.992612;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20577;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45480733;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1331,53;ESP6500_AA_GTC=640,51,1;ESP6500_CDS_SIZES=NM_000374.4:1104;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=91;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000374.4:intron;ESP6500_GL=UROD;ESP6500_GRCh38_POSITION=1:45015061;ESP6500_GTC=2231,51,1;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000374.4:c.942+55C>T;ESP6500_MAF=0.0,3.8295,1.1608;ESP6500_TAC=4513,53	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,65:65:99:1|1:45015061_C_T:1996,192,0
chr1	45020038	rs3831961;rs397840691	TG	T	1009.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.292;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.141;SOR=0.387;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3831961;dbSNPBuildID=137,138;ANN=T|downstream_gene_variant|MODIFIER|UROD|UROD|transcript|NM_000374.4|protein_coding||c.*4541delG|||||4370|,T|downstream_gene_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene||n.*4370delG|||||4370|,T|intron_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|13/13|c.2695+27delC||||||;p3_1000G_AA=GGGGG|GGGGG|GGGG|deletion;p3_1000G_AC=345;p3_1000G_AF=0.0688898;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=20265;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45485710;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=INDEL;ESP6500_AA_AC=203,3543;ESP6500_AA_GTC=12,179,1682;ESP6500_CDS_SIZES=NM_020883.1:3558;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=47;ESP6500_EA_AC=462,7454;ESP6500_EA_GTC=23,416,3519;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020883.1:intron;ESP6500_GL=ZSWIM5;ESP6500_GRCh38_POSITION=1:45020038;ESP6500_GTC=35,595,5201;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020883.1:c.2695+27del1;ESP6500_MAF=5.8363,5.4191,5.7023;ESP6500_TAC=665,10997	GT:AD:DP:GQ:PL	0/1:25,38:63:99:1047,0,625
chr1	45020600	rs998418	T	C	841.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.68;SOR=3.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs998418;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|UROD|UROD|transcript|NM_000374.4|protein_coding||c.*5102T>C|||||4931|,C|downstream_gene_variant|MODIFIER|UROD|UROD|transcript|NR_036510.1|pseudogene||n.*4931T>C|||||4931|,C|intron_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|12/13|c.2613+25A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3247;p3_1000G_AF=0.648363;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=19612;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.7813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45486272;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2195,1925;ESP6500_AA_GTC=602,991,467;ESP6500_CDS_SIZES=NM_020883.1:3558;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=227;ESP6500_EA_AC=6308,2084;ESP6500_EA_GTC=2382,1544,270;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020883.1:intron;ESP6500_GL=ZSWIM5;ESP6500_GRCh38_POSITION=1:45020600;ESP6500_GTC=2984,2535,737;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020883.1:c.2613+25A>G;ESP6500_MAF=24.8332,46.7233,32.0412;ESP6500_TAC=8503,4009	GT:AD:DP:GQ:PL	1/1:0,23:23:69:870,69,0
chr1	45036354	rs774010627	CTT	C	270.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.817;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=1.04;SOR=2.584;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|8/13|c.1895-57_1895-56delAA||||||	GT:AD:DP:GQ:PL	1/0:1,6:7:88:308,139,151
chr1	45036354	.	CTT	CT	270.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.817;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=1.04;SOR=2.584;DEL;HET;VARTYPE=DEL;ANN=CT|intron_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|8/13|c.1895-57delA||||||	GT:AD:DP:GQ:PL	0/1:1,8:9:88:308,108,88
chr1	45038852	rs7543818	T	A	839.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.415;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=3.946;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.355;SOR=0.325;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7543818;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|8/13|c.1894+84A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=17137;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45504524;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,34:59:99:0|1:45038845_C_A:868,0,685
chr1	45039048	rs7551698	G	C	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.328;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=1.65;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7551698;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|8/14|c.1782C>G|p.Thr594Thr|2010/5836|1782/3558|594/1185||;p3_1000G_AA=G|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=17531;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45504720;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1507,2257;ESP6500_AA_GTC=326,855,701;ESP6500_CDS_SIZES=NM_020883.1:3558;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=74;ESP6500_EA_AC=4900,3320;ESP6500_EA_GTC=1473,1954,683;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020883.1:coding-synonymous;ESP6500_GL=ZSWIM5;ESP6500_GRCh38_POSITION=1:45039048;ESP6500_GTC=1799,2809,1384;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020883.1:c.1782C>G;ESP6500_HGVS_PROTEIN_VAR=NM_020883.1:p.(T594);ESP6500_MAF=40.3893,40.0372,46.537;ESP6500_TAC=6407,5577	GT:AD:DP:GQ:PL	0/1:38,17:55:99:418,0,1133
chr1	45039134	rs72684426	C	T	630.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.472;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-0.84;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72684426;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|7/13|c.1757-61G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=276;p3_1000G_AF=0.0551118;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=16945;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45504806;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,25:37:99:659,0,293
chr1	45058541	rs3738246	C	T	617.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.85;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.637;SOR=0.411;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738246;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|4/13|c.1252+68G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4411;p3_1000G_AF=0.880791;p3_1000G_AFR_AF=0.8956;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=22393;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45524213;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,21:42:99:646,0,686
chr1	45206294	rs4454584	A	G	921.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.143;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=13.722;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=0.704;SOR=0.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4454584;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|ZSWIM5|ZSWIM5|transcript|NM_020883.1|protein_coding|1/14|c.57T>C|p.Ala19Ala|285/5836|57/3558|19/1185||;p3_1000G_AA=G|||;p3_1000G_AC=1420;p3_1000G_AF=0.283546;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=6356;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45671966;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1697,1941;ESP6500_AA_GTC=478,741,600;ESP6500_CDS_SIZES=NM_020883.1:3558;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=4;ESP6500_EA_AC=1877,5705;ESP6500_EA_GTC=340,1197,2254;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020883.1:coding-synonymous;ESP6500_GL=ZSWIM5;ESP6500_GRCh38_POSITION=1:45206294;ESP6500_GTC=818,1938,2854;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020883.1:c.57T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020883.1:p.(A19);ESP6500_MAF=24.756,46.6465,31.8538;ESP6500_TAC=3574,7646	GT:AD:DP:GQ:PL	0/1:13,32:45:99:950,0,360
chr1	45330597	rs3219493;439920	G	C	970.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3219493;dbSNPBuildID=106;ANN=C|downstream_gene_variant|MODIFIER|HPDL|HPDL|transcript|NM_032756.2|protein_coding||c.*2333G>C|||||1923|,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001128425.1|protein_coding|14/15|c.1477-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048174.1|protein_coding|14/15|c.1393-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293191.1|protein_coding|14/15|c.1426-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293195.1|protein_coding|15/16|c.1393-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048172.1|protein_coding|14/15|c.1396-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048173.1|protein_coding|14/15|c.1393-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293196.1|protein_coding|14/15|c.1117-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048171.1|protein_coding|14/15|c.1435-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293190.1|protein_coding|14/15|c.1438-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293192.1|protein_coding|14/15|c.1117-40C>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_012222.2|protein_coding|14/15|c.1468-40C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4684;p3_1000G_AF=0.935304;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=19432;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45796269;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4208,196;ESP6500_AA_GTC=2011,186,5;ESP6500_CDS_SIZES=NM_012222.2:1641,NM_001128425.1:1650,NM_001048174.1:1566,NM_001048173.1:1566,NM_001048172.1:1569,NM_001048171.1:1608;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=58;ESP6500_EA_AC=7837,763;ESP6500_EA_GTC=3571,695,34;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012222.2:intron,NM_001128425.1:intron,NM_001048174.1:intron,NM_001048173.1:intron,NM_001048172.1:intron,NM_001048171.1:intron;ESP6500_GL=MUTYH;ESP6500_GRCh38_POSITION=1:45330597;ESP6500_GTC=5582,881,39;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_012222.2:c.1468-40C>G,NM_001128425.1:c.1477-40C>G,NM_001048174.1:c.1393-40C>G,NM_001048173.1:c.1393-40C>G,NM_001048172.1:c.1396-40C>G,NM_001048171.1:c.1435-40C>G;ESP6500_MAF=8.8721,4.4505,7.3747;ESP6500_TAC=12045,959;CLINVAR_ALLELEID=432989;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.45330597G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MUTYH:4595;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3219493	GT:AD:DP:GQ:PL	1/1:0,31:31:93:999,93,0
chr1	45331833	rs3219489;41767	C	G	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.264;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.637;SOR=1.14;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3219489;dbSNPBuildID=106;ANN=G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001128425.1|protein_coding|12/16|c.1014G>C|p.Gln338His|1230/1930|1014/1650|338/549||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001048174.1|protein_coding|12/16|c.930G>C|p.Gln310His|995/1695|930/1566|310/521||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001293191.1|protein_coding|12/16|c.963G>C|p.Gln321His|1028/1728|963/1599|321/532||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001293195.1|protein_coding|13/17|c.930G>C|p.Gln310His|1145/1845|930/1566|310/521||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001048172.1|protein_coding|12/16|c.933G>C|p.Gln311His|1079/1779|933/1569|311/522||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001048173.1|protein_coding|12/16|c.930G>C|p.Gln310His|1076/1776|930/1566|310/521||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001293196.1|protein_coding|12/16|c.654G>C|p.Gln218His|1013/1713|654/1290|218/429||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001048171.1|protein_coding|12/16|c.972G>C|p.Gln324His|1188/1888|972/1608|324/535||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001293190.1|protein_coding|12/16|c.975G>C|p.Gln325His|1191/1891|975/1611|325/536||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_001293192.1|protein_coding|12/16|c.654G>C|p.Gln218His|1124/1824|654/1290|218/429||,G|missense_variant|MODERATE|MUTYH|MUTYH|transcript|NM_012222.2|protein_coding|12/16|c.1005G>C|p.Gln335His|1221/1921|1005/1641|335/546||,G|downstream_gene_variant|MODIFIER|HPDL|HPDL|transcript|NM_032756.2|protein_coding||c.*3569C>G|||||3159|;p3_1000G_AA=C|||;p3_1000G_AC=1570;p3_1000G_AF=0.313498;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=17085;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.2445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45797505;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1161,3241;ESP6500_AA_GTC=169,823,1209;ESP6500_CDS_SIZES=NM_012222.2:1641,NM_001128425.1:1650,NM_001048174.1:1566,NM_001048173.1:1566,NM_001048172.1:1569,NM_001048171.1:1608;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=17;ESP6500_EA_AC=2143,6457;ESP6500_EA_GTC=256,1631,2413;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012222.2:missense,NM_001128425.1:missense,NM_001048174.1:missense,NM_001048173.1:missense,NM_001048172.1:missense,NM_001048171.1:missense;ESP6500_GL=MUTYH;ESP6500_GRCh38_POSITION=1:45331833;ESP6500_GS=24,24,24,24,24,24;ESP6500_GTC=425,2454,3622;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_012222.2:c.1005G>C,NM_001128425.1:c.1014G>C,NM_001048174.1:c.930G>C,NM_001048173.1:c.930G>C,NM_001048172.1:c.933G>C,NM_001048171.1:c.972G>C;ESP6500_HGVS_PROTEIN_VAR=NM_012222.2:p.(Q335H),NM_001128425.1:p.(Q338H),NM_001048174.1:p.(Q310H),NM_001048173.1:p.(Q310H),NM_001048172.1:p.(Q311H),NM_001048171.1:p.(Q324H);ESP6500_MAF=24.9186,26.3744,25.4115;ESP6500_PH=possibly-damaging:0.645,possibly-damaging:0.645,possibly-damaging:0.645,possibly-damaging:0.645,possibly-damaging:0.645,possibly-damaging:0.645;ESP6500_TAC=3304,9698;CLINVAR_AF_ESP=0.2541;CLINVAR_AF_EXAC=0.29668;CLINVAR_AF_TGP=0.3135;CLINVAR_ALLELEID=50206;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0699790,OMIM:114500,SNOMED_CT:269533000|MedGen:C1837991,OMIM:608456,Orphanet:ORPHA247798|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon|MYH-associated_polyposis|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.45331833C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:7527|HGMD:CM083726|Illumina_Clinical_Services_Laboratory,Illumina:1358;CLINVAR_GENEINFO=MUTYH:4595;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3219489	GT:AD:DP:GQ:PL	0/1:11,8:19:99:244,0,338
chr1	45332883	rs3219487;257529	T	C	3327.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=1.029;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3219487;dbSNPBuildID=106;ANN=C|downstream_gene_variant|MODIFIER|HPDL|HPDL|transcript|NM_032756.2|protein_coding||c.*4619T>C|||||4209|,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001128425.1|protein_coding|6/15|c.504+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048174.1|protein_coding|6/15|c.420+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293191.1|protein_coding|6/15|c.453+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293195.1|protein_coding|7/16|c.420+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048172.1|protein_coding|6/15|c.423+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048173.1|protein_coding|6/15|c.420+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293196.1|protein_coding|6/15|c.144+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048171.1|protein_coding|6/15|c.462+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293190.1|protein_coding|6/15|c.465+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293192.1|protein_coding|6/15|c.144+35A>G||||||,C|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_012222.2|protein_coding|6/15|c.495+35A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4693;p3_1000G_AF=0.937101;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=20110;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.9205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45798555;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4256,150;ESP6500_AA_AGE=101.6+/-140.2;ESP6500_AA_GTC=2055,146,2;ESP6500_CDS_SIZES=NM_012222.2:1641,NM_001128425.1:1650,NM_001048174.1:1566,NM_001048173.1:1566,NM_001048172.1:1569,NM_001048171.1:1608;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=119;ESP6500_EA_AC=7843,757;ESP6500_EA_AGE=181.5+/-230.2;ESP6500_EA_GTC=3578,687,35;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012222.2:intron,NM_001128425.1:intron,NM_001048174.1:intron,NM_001048173.1:intron,NM_001048172.1:intron,NM_001048171.1:intron;ESP6500_GL=MUTYH;ESP6500_GRCh38_POSITION=1:45332883;ESP6500_GTC=5633,833,37;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012222.2:c.495+35A>G,NM_001128425.1:c.504+35A>G,NM_001048174.1:c.420+35A>G,NM_001048173.1:c.420+35A>G,NM_001048172.1:c.423+35A>G,NM_001048171.1:c.462+35A>G;ESP6500_MAF=8.8023,3.4044,6.9737;ESP6500_TAC=12099,907;CLINVAR_ALLELEID=249965;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.45332883T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:2014;CLINVAR_GENEINFO=MUTYH:4595;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3219487	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3356,303,0
chr1	45338378	rs3219472	C	T	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.854;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=6.767;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.939;SOR=0.033;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3219472;dbSNPBuildID=106;ANN=T|upstream_gene_variant|MODIFIER|TOE1|TOE1|transcript|NM_025077.3|protein_coding||c.-1875C>T|||||1292|,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001128425.1|protein_coding|1/15|c.36+1841G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048174.1|protein_coding|1/15|c.-7+1521G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293191.1|protein_coding|1/15|c.-7+1521G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293195.1|protein_coding|2/16|c.-7+129G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048172.1|protein_coding|1/15|c.-7+1598G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048173.1|protein_coding|1/15|c.-7+1598G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293196.1|protein_coding|1/15|c.-219+1598G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048171.1|protein_coding|1/15|c.36+1841G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293190.1|protein_coding|1/15|c.36+1841G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293192.1|protein_coding|1/15|c.-219+1841G>A||||||,T|intron_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_012222.2|protein_coding|1/15|c.36+1841G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1524;p3_1000G_AF=0.304313;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=22309;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45804050;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:245,0,362
chr1	45345251	rs3893383	G	A	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.323;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.97;ReadPosRankSum=0.494;SOR=0.62;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3893383;dbSNPBuildID=108;ANN=A|synonymous_variant|LOW|TESK2|TESK2|transcript|NM_007170.2|protein_coding|11/11|c.1305C>T|p.Pro435Pro|1708/3076|1305/1716|435/571||,A|synonymous_variant|LOW|TESK2|TESK2|transcript|NM_001320800.1|protein_coding|10/10|c.1056C>T|p.Pro352Pro|1400/2768|1056/1467|352/488||,A|upstream_gene_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001128425.1|protein_coding||c.-4997C>T|||||4781|,A|upstream_gene_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001048171.1|protein_coding||c.-4997C>T|||||4781|,A|upstream_gene_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293190.1|protein_coding||c.-4997C>T|||||4781|,A|upstream_gene_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_001293192.1|protein_coding||c.-11939C>T|||||4781|,A|upstream_gene_variant|MODIFIER|MUTYH|MUTYH|transcript|NM_012222.2|protein_coding||c.-4997C>T|||||4781|,A|downstream_gene_variant|MODIFIER|TOE1|TOE1|transcript|NM_025077.3|protein_coding||c.*1549G>A|||||1273|;p3_1000G_AA=G|||;p3_1000G_AC=872;p3_1000G_AF=0.174121;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=18447;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.1044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45810923;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=940,2854;ESP6500_AA_GTC=108,724,1065;ESP6500_CDS_SIZES=NM_007170.2:1716;ESP6500_CG=-0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=43;ESP6500_EA_AC=849,7353;ESP6500_EA_GTC=42,765,3294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007170.2:coding-synonymous;ESP6500_GL=TESK2;ESP6500_GRCh38_POSITION=1:45345251;ESP6500_GTC=150,1489,4359;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007170.2:c.1305C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007170.2:p.(P435);ESP6500_MAF=10.3511,24.776,14.9133;ESP6500_TAC=1789,10207	GT:AD:DP:GQ:PL	0/1:29,15:44:99:379,0,789
chr1	45347769	rs2298018	T	C	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=1.82;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298018;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|TOE1|TOE1|transcript|NM_025077.3|protein_coding||c.*4067T>C|||||3791|,C|intron_variant|MODIFIER|TESK2|TESK2|transcript|NM_007170.2|protein_coding|6/10|c.624-76A>G||||||,C|intron_variant|MODIFIER|TESK2|TESK2|transcript|NM_001320800.1|protein_coding|5/9|c.375-76A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2098;p3_1000G_AF=0.41893;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=19895;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45813441;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:173,0,233
chr1	45348148	rs2153607	G	A	207.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.361;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=-0.15;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2153607;dbSNPBuildID=96;ANN=A|downstream_gene_variant|MODIFIER|TOE1|TOE1|transcript|NM_025077.3|protein_coding||c.*4446G>A|||||4170|,A|intron_variant|MODIFIER|TESK2|TESK2|transcript|NM_007170.2|protein_coding|5/10|c.541-148C>T||||||,A|intron_variant|MODIFIER|TESK2|TESK2|transcript|NM_001320800.1|protein_coding|4/9|c.292-148C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2097;p3_1000G_AF=0.41873;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=19565;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45813820;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:236,0,168
chr1	45421616	rs3790582	T	C	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.51;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.105;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790582;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TESK2|TESK2|transcript|NM_007170.2|protein_coding|3/10|c.344+109A>G||||||,C|intron_variant|MODIFIER|TESK2|TESK2|transcript|NM_001320800.1|protein_coding|2/9|c.95+109A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1442;p3_1000G_AF=0.287939;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=19569;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.2366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45887288;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,15:27:99:509,0,346
chr1	45495655	rs397980087;rs71052890;rs757466220;rs759150089	CTTTTTTTTTTTTT	C	457.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.56;SOR=2.67;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71052890;dbSNPBuildID=137,144,144,138;ANN=C|upstream_gene_variant|MODIFIER|TESK2|TESK2|transcript|NM_007170.2|protein_coding||c.-37883_-37871delAAAAAAAAAAAAA|||||4488|,C|upstream_gene_variant|MODIFIER|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding||c.-4677_-4665delTTTTTTTTTTTTT|||||4528|,C|upstream_gene_variant|MODIFIER|TESK2|TESK2|transcript|NM_001320800.1|protein_coding||c.-73849_-73837delAAAAAAAAAAAAA|||||4488|,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033298.1|pseudogene|4/5|n.801-123_801-111delAAAAAAAAAAAAA||||||,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033296.1|pseudogene|4/4|n.801-502_801-490delAAAAAAAAAAAAA||||||,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033297.1|pseudogene|3/4|n.716-123_716-111delAAAAAAAAAAAAA||||||;p3_1000G_AC=4642;p3_1000G_AF=0.926917;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=20460;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.8817;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45961327;p3_1000G_GRCH37_REF=CTTTTTTTTTTTTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:38:474,38,0
chr1	45496465	rs41302744	T	C	570.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.476;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-0.621;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41302744;dbSNPBuildID=127;ANN=C|upstream_gene_variant|MODIFIER|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding||c.-3868T>C|||||3719|,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033298.1|pseudogene|4/5|n.800+91A>G||||||,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033296.1|pseudogene|4/4|n.800+91A>G||||||,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033297.1|pseudogene|3/4|n.715+91A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=827;p3_1000G_AF=0.165136;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=21031;p3_1000G_EAS_AF=0.4663;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45962137;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,20:35:99:599,0,374
chr1	45496737	rs11211124	T	C	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.114;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11211124;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding||c.-3596T>C|||||3447|,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033298.1|pseudogene|3/5|n.733-114A>G||||||,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033296.1|pseudogene|3/4|n.733-114A>G||||||,C|intron_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033297.1|pseudogene|2/4|n.648-114A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1342;p3_1000G_AF=0.267971;p3_1000G_AFR_AF=0.2216;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=21482;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45962409;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:167,0,312
chr1	45499635	rs12568144	G	A	626.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.225;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-0.772;SOR=0.559;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12568144;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding||c.-698G>A|||||549|,A|non_coding_transcript_exon_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033298.1|pseudogene|1/6|n.445C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033296.1|pseudogene|1/5|n.445C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033297.1|pseudogene|1/5|n.445C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2359;p3_1000G_AF=0.471046;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=16266;p3_1000G_EAS_AF=0.5952;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45965307;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1402,2408;ESP6500_AA_GTC=263,876,766;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=3584,4642;ESP6500_EA_GTC=773,2038,1302;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:45499635;ESP6500_GTC=1036,2914,2068;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=43.5692,36.7979,41.4257;ESP6500_TAC=4986,7050	GT:AD:DP:GQ:PL	0/1:16,24:40:99:655,0,444
chr1	45499668	rs7546268	T	C	891.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7546268;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding||c.-665T>C|||||516|,C|non_coding_transcript_exon_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033298.1|pseudogene|1/6|n.412A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033296.1|pseudogene|1/5|n.412A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|CCDC163|CCDC163|transcript|NR_033297.1|pseudogene|1/5|n.412A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4133;p3_1000G_AF=0.82528;p3_1000G_AFR_AF=0.8616;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=16683;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45965340;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1104,280;ESP6500_AA_GTC=447,210,35;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=2127,1055;ESP6500_EA_GTC=709,709,173;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:45499668;ESP6500_GTC=1156,919,208;ESP6500_GTS=CC,CT,TT;ESP6500_MAF=33.1552,20.2312,29.2378;ESP6500_TAC=3231,1335	GT:AD:DP:GQ:PL	1/1:0,28:28:84:920,84,0
chr1	45508256	rs2275276;95702	G	A	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.235;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.123;SOR=0.603;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275276;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding|3/4|c.321G>A|p.Val107Val|470/2850|321/849|107/282||,A|downstream_gene_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_001202431.1|protein_coding||c.*3073C>T|||||2779|,A|downstream_gene_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_002574.3|protein_coding||c.*3073C>T|||||2779|,A|downstream_gene_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_181696.2|protein_coding||c.*3073C>T|||||2779|,A|downstream_gene_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_181697.2|protein_coding||c.*3073C>T|||||2779|;p3_1000G_AA=G|||;p3_1000G_AC=2380;p3_1000G_AF=0.47524;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=20592;p3_1000G_EAS_AF=0.5952;p3_1000G_EUR_AF=0.4771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45973928;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1467,2473;ESP6500_AA_GTC=283,901,786;ESP6500_CDS_SIZES=NM_015506.2:849;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=82;ESP6500_EA_AC=3633,4681;ESP6500_EA_GTC=775,2083,1299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015506.2:coding-synonymous;ESP6500_GL=MMACHC;ESP6500_GRCh38_POSITION=1:45508256;ESP6500_GTC=1058,2984,2085;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015506.2:c.321G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015506.2:p.(V107);ESP6500_MAF=43.6974,37.2335,41.6191;ESP6500_TAC=5100,7154;CLINVAR_AF_ESP=0.4162;CLINVAR_AF_EXAC=0.46635;CLINVAR_AF_TGP=0.4752;CLINVAR_ALLELEID=101599;CLINVAR_CLNDISDB=MedGen:CN043592|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.45508256G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1370;CLINVAR_GENEINFO=MMACHC:25974;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2275276	GT:AD:DP:GQ:PL	0/1:37,28:65:99:618,0,1066
chr1	45515586	rs7516006	A	G	118.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7516006;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding||c.*6371A>G|||||4519|,G|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_001202431.1|protein_coding|3/5|c.260+68T>C||||||,G|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_002574.3|protein_coding|3/5|c.260+68T>C||||||,G|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_181696.2|protein_coding|3/5|c.260+68T>C||||||,G|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_181697.2|protein_coding|3/5|c.260+68T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4133;p3_1000G_AF=0.82528;p3_1000G_AFR_AF=0.8616;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=12574;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45981258;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr1	45515598	rs1461827992	CAAA	C	30.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-1.383;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|downstream_gene_variant|MODIFIER|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding||c.*6384_*6386delAAA|||||4532|,C|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_001202431.1|protein_coding|3/5|c.260+53_260+55delTTT||||||,C|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_002574.3|protein_coding|3/5|c.260+53_260+55delTTT||||||,C|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_181696.2|protein_coding|3/5|c.260+53_260+55delTTT||||||,C|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_181697.2|protein_coding|3/5|c.260+53_260+55delTTT||||||	GT:AD:DP:GQ:PL	0/1:2,2:4:38:68,0,38
chr1	45515840	rs2356559	T	C	687.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2356559;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|MMACHC|MMACHC|transcript|NM_015506.2|protein_coding||c.*6625T>C|||||4773|,C|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_001202431.1|protein_coding|2/5|c.107-33A>G||||||,C|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_002574.3|protein_coding|2/5|c.107-33A>G||||||,C|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_181696.2|protein_coding|2/5|c.107-33A>G||||||,C|intron_variant|MODIFIER|PRDX1|PRDX1|transcript|NM_181697.2|protein_coding|2/5|c.107-33A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4099;p3_1000G_AF=0.81849;p3_1000G_AFR_AF=0.8563;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=19103;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.6958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45981512;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.774;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:716,69,0
chr1	45561683	rs512083	T	C	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.06;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.111;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-2.698;SOR=1.325;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs512083;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|AKR1A1|AKR1A1|transcript|NM_001202413.1|protein_coding|2/9|c.-6-106T>C||||||,C|intron_variant|MODIFIER|AKR1A1|AKR1A1|transcript|NM_001202414.1|protein_coding|3/10|c.-6-106T>C||||||,C|intron_variant|MODIFIER|AKR1A1|AKR1A1|transcript|NM_006066.3|protein_coding|2/9|c.-6-106T>C||||||,C|intron_variant|MODIFIER|AKR1A1|AKR1A1|transcript|NM_153326.2|protein_coding|1/8|c.-6-106T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2885;p3_1000G_AF=0.576078;p3_1000G_AFR_AF=0.6755;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=19833;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46027355;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,15:35:99:414,0,504
chr1	45584332	rs57257530	TTCGG	T	415.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.604;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.7;ReadPosRankSum=-0.546;SOR=1.781;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs57257530;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding|1/14|c.59+128_59+131delTCGG||||||,T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding|1/12|c.59+128_59+131delTCGG||||||,T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding|1/13|c.59+128_59+131delTCGG||||||;p3_1000G_AC=3324;p3_1000G_AF=0.663738;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=13059;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.7167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46050004;p3_1000G_GRCH37_REF=TTCGG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6084;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,11:14:99:453,0,169
chr1	45588665	rs555412921	C	T	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.153;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.396;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.52;ReadPosRankSum=1.83;SOR=0.517;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding|1/14|c.60-2558C>T||||||,T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding|1/12|c.60-2558C>T||||||,T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding|1/13|c.60-2558C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16756;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46054337;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,11:34:99:182,0,610
chr1	45600326	rs3014211	T	C	1378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.93;QD=32.06;SOR=1.455;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3014211;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding|2/14|c.108-1929T>C||||||,C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding|2/12|c.108-6156T>C||||||,C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding|2/13|c.108-1929T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4934;p3_1000G_AF=0.985224;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19420;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46065998;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1371,13;ESP6500_AA_GTC=679,13,0;ESP6500_CDS_SIZES=NM_152298.3:1350,NM_002482.3:2367,NM_001195193.1:2175;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=81;ESP6500_EA_AC=3049,133;ESP6500_EA_GTC=1463,123,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152298.3:intron,NM_002482.3:intron,NM_001195193.1:intron;ESP6500_GL=NASP;ESP6500_GRCh38_POSITION=1:45600326;ESP6500_GTC=2142,136,5;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152298.3:c.108-1929T>C,NM_002482.3:c.108-1929T>C,NM_001195193.1:c.108-6156T>C;ESP6500_MAF=4.1798,0.9393,3.1975;ESP6500_TAC=4420,146	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1407,129,0
chr1	45613182	rs2230658	A	G	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.183;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.38;ReadPosRankSum=0.526;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230658;dbSNPBuildID=103;ANN=G|sequence_feature|MODERATE|NASP|NASP|modified-residue:Phosphoserine|NM_002482.3|protein_coding|7/15|c.1440A>G||||||,G|sequence_feature|MODERATE|NASP|NASP|modified-residue:Phosphoserine|NM_001195193.1|protein_coding|5/13|c.1248A>G||||||,G|sequence_feature|MODERATE|NASP|NASP|modified-residue:Phosphoserine|NM_152298.3|protein_coding|6/14|c.423A>G||||||,G|synonymous_variant|LOW|NASP|NASP|transcript|NM_002482.3|protein_coding|7/15|c.1440A>G|p.Ser480Ser|1599/3291|1440/2367|480/788||,G|synonymous_variant|LOW|NASP|NASP|transcript|NM_001195193.1|protein_coding|5/13|c.1248A>G|p.Ser416Ser|1407/3099|1248/2175|416/724||,G|synonymous_variant|LOW|NASP|NASP|transcript|NM_152298.3|protein_coding|6/14|c.423A>G|p.Ser141Ser|582/2274|423/1350|141/449||;p3_1000G_AA=A|||;p3_1000G_AC=3401;p3_1000G_AF=0.679113;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=22765;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46078854;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3306,1100;ESP6500_AA_AGE=715.4+/-408.5;ESP6500_AA_GTC=1247,812,144;ESP6500_CDS_SIZES=NM_152298.3:1350,NM_002482.3:2367,NM_001195193.1:2175;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=77;ESP6500_EA_AC=6062,2538;ESP6500_EA_AGE=689.6+/-404.4;ESP6500_EA_GTC=2149,1764,387;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152298.3:coding-synonymous,NM_002482.3:coding-synonymous,NM_001195193.1:coding-synonymous;ESP6500_GL=NASP;ESP6500_GRCh38_POSITION=1:45613182;ESP6500_GTC=3396,2576,531;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152298.3:c.423A>G,NM_002482.3:c.1440A>G,NM_001195193.1:c.1248A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152298.3:p.(S141),NM_002482.3:p.(S480),NM_001195193.1:p.(S416);ESP6500_MAF=29.5116,24.966,27.9717;ESP6500_TAC=9368,3638	GT:AD:DP:GQ:PL	0/1:30,14:44:99:265,0,738
chr1	45613212	rs2230659	C	T	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.125;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.531;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=-0.203;SOR=0.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230659;dbSNPBuildID=103;ANN=T|sequence_feature|MODERATE|NASP|NASP|modified-residue:Phosphothreonine|NM_002482.3|protein_coding|7/15|c.1470C>T||||||,T|sequence_feature|MODERATE|NASP|NASP|modified-residue:Phosphothreonine|NM_001195193.1|protein_coding|5/13|c.1278C>T||||||,T|sequence_feature|MODERATE|NASP|NASP|modified-residue:Phosphothreonine|NM_152298.3|protein_coding|6/14|c.453C>T||||||,T|synonymous_variant|LOW|NASP|NASP|transcript|NM_002482.3|protein_coding|7/15|c.1470C>T|p.Thr490Thr|1629/3291|1470/2367|490/788||,T|synonymous_variant|LOW|NASP|NASP|transcript|NM_001195193.1|protein_coding|5/13|c.1278C>T|p.Thr426Thr|1437/3099|1278/2175|426/724||,T|synonymous_variant|LOW|NASP|NASP|transcript|NM_152298.3|protein_coding|6/14|c.453C>T|p.Thr151Thr|612/2274|453/1350|151/449||;p3_1000G_AA=C|||;p3_1000G_AC=3397;p3_1000G_AF=0.678315;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=23108;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46078884;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3292,1114;ESP6500_AA_AGE=714.6+/-408.4;ESP6500_AA_GTC=1236,820,147;ESP6500_CDS_SIZES=NM_152298.3:1350,NM_002482.3:2367,NM_001195193.1:2175;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=96;ESP6500_EA_AC=6062,2538;ESP6500_EA_AGE=690.8+/-404.5;ESP6500_EA_GTC=2150,1762,388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152298.3:coding-synonymous,NM_002482.3:coding-synonymous,NM_001195193.1:coding-synonymous;ESP6500_GL=NASP;ESP6500_GRCh38_POSITION=1:45613212;ESP6500_GTC=3386,2582,535;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152298.3:c.453C>T,NM_002482.3:c.1470C>T,NM_001195193.1:c.1278C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152298.3:p.(T151),NM_002482.3:p.(T490),NM_001195193.1:p.(T426);ESP6500_MAF=29.5116,25.2837,28.0793;ESP6500_TAC=9354,3652	GT:AD:DP:GQ:PL	0/1:30,17:47:99:321,0,732
chr1	45614858	rs2991985	T	C	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.842;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2991985;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding|9/14|c.1667-155T>C||||||,C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding|7/12|c.1475-155T>C||||||,C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding|8/13|c.650-155T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2648;p3_1000G_AF=0.528754;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=18900;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46080530;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:95:144,0,95
chr1	45615275	rs1972410	A	C	806.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.123;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=8.38;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.798;SOR=1.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1972410;dbSNPBuildID=92;ANN=C|downstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding||c.*5000T>G|||||4769|,C|downstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding||c.*5000T>G|||||4769|,C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding|10/14|c.1856-30A>C||||||,C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding|8/12|c.1664-30A>C||||||,C|intron_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding|9/13|c.839-30A>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=3443;p3_1000G_AF=0.6875;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=22589;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.7207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46080947;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3306,1100;ESP6500_AA_AGE=396.7+/-330.2;ESP6500_AA_GTC=1245,816,142;ESP6500_CDS_SIZES=NM_152298.3:1350,NM_002482.3:2367,NM_001195193.1:2175;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=63;ESP6500_EA_AC=6089,2511;ESP6500_EA_AGE=410.4+/-350.2;ESP6500_EA_GTC=2167,1755,378;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152298.3:intron,NM_002482.3:intron,NM_001195193.1:intron;ESP6500_GL=NASP;ESP6500_GRCh38_POSITION=1:45615275;ESP6500_GTC=3412,2571,520;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_152298.3:c.839-30A>C,NM_002482.3:c.1856-30A>C,NM_001195193.1:c.1664-30A>C;ESP6500_MAF=29.1977,24.966,27.7641;ESP6500_TAC=9395,3611	GT:AD:DP:GQ:PL	0/1:39,32:71:99:835,0,1075
chr1	45616268	rs2356581	T	A	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.344;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=1.27;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2356581;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding||c.*4007A>T|||||3776|,A|downstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding||c.*4007A>T|||||3776|,A|intron_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding|11/14|c.2023-69T>A||||||,A|intron_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding|9/12|c.1831-69T>A||||||,A|intron_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding|10/13|c.1006-69T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4932;p3_1000G_AF=0.984824;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=18998;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46081940;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1371,13;ESP6500_AA_GTC=679,13,0;ESP6500_CDS_SIZES=NM_152298.3:1350,NM_002482.3:2367,NM_001195193.1:2175;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=103;ESP6500_EA_AC=3048,134;ESP6500_EA_GTC=1462,124,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152298.3:intron,NM_002482.3:intron,NM_001195193.1:intron;ESP6500_GL=NASP;ESP6500_GRCh38_POSITION=1:45616268;ESP6500_GTC=2141,137,5;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_152298.3:c.1006-69T>A,NM_002482.3:c.2023-69T>A,NM_001195193.1:c.1831-69T>A;ESP6500_MAF=4.2112,0.9393,3.2194;ESP6500_TAC=4419,147	GT:AD:DP:GQ:PL	0/1:4,9:13:99:245,0,108
chr1	45616288	rs2253862	C	T	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.015;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=1.19;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2253862;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding||c.*3987G>A|||||3756|,T|downstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding||c.*3987G>A|||||3756|,T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding|11/14|c.2023-49C>T||||||,T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding|9/12|c.1831-49C>T||||||,T|intron_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding|10/13|c.1006-49C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3433;p3_1000G_AF=0.685503;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=19319;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46081960;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3300,1106;ESP6500_AA_AGE=399.0+/-331.0;ESP6500_AA_GTC=1241,818,144;ESP6500_CDS_SIZES=NM_152298.3:1350,NM_002482.3:2367,NM_001195193.1:2175;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=93;ESP6500_EA_AC=6089,2511;ESP6500_EA_AGE=411.5+/-350.5;ESP6500_EA_GTC=2167,1755,378;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152298.3:intron,NM_002482.3:intron,NM_001195193.1:intron;ESP6500_GL=NASP;ESP6500_GRCh38_POSITION=1:45616288;ESP6500_GTC=3408,2573,522;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152298.3:c.1006-49C>T,NM_002482.3:c.2023-49C>T,NM_001195193.1:c.1831-49C>T;ESP6500_MAF=29.1977,25.1021,27.8102;ESP6500_TAC=9389,3617	GT:AD:DP:GQ:PL	0/1:6,10:16:99:287,0,200
chr1	45616759	rs2991988	C	A	716.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.613;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.029;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2991988;dbSNPBuildID=101;ANN=A|downstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding||c.*3516G>T|||||3285|,A|downstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding||c.*3516G>T|||||3285|,A|intron_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding|13/14|c.2157+56C>A||||||,A|intron_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding|11/12|c.1965+56C>A||||||,A|intron_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding|12/13|c.1140+56C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3433;p3_1000G_AF=0.685503;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=19659;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46082431;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1032,352;ESP6500_AA_GTC=390,252,50;ESP6500_CDS_SIZES=NM_152298.3:1350,NM_002482.3:2367,NM_001195193.1:2175;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=139;ESP6500_EA_AC=2243,939;ESP6500_EA_GTC=801,641,149;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152298.3:intron,NM_002482.3:intron,NM_001195193.1:intron;ESP6500_GL=NASP;ESP6500_GRCh38_POSITION=1:45616759;ESP6500_GTC=1191,893,199;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152298.3:c.1140+56C>A,NM_002482.3:c.2157+56C>A,NM_001195193.1:c.1965+56C>A;ESP6500_MAF=29.5097,25.4335,28.2742;ESP6500_TAC=3275,1291	GT:AD:DP:GQ:PL	0/1:27,31:58:99:745,0,654
chr1	45620180	rs2275085	C	T	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.578;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.098;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275085;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding|13/13|c.*95G>A|||||95|,T|3_prime_UTR_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding|13/13|c.*95G>A|||||95|,T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding||c.*2039C>T|||||1274|,T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding||c.*2039C>T|||||1274|,T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding||c.*2039C>T|||||1274|;p3_1000G_AA=C|||;p3_1000G_AC=3396;p3_1000G_AF=0.678115;p3_1000G_AFR_AF=0.7307;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=21134;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.7157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46085852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,7:19:99:181,0,407
chr1	45620207	rs2275086	C	G	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.347;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275086;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding|13/13|c.*68G>C|||||68|,G|3_prime_UTR_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding|13/13|c.*68G>C|||||68|,G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding||c.*2066C>G|||||1301|,G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding||c.*2066C>G|||||1301|,G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding||c.*2066C>G|||||1301|;p3_1000G_AA=G|||;p3_1000G_AC=3432;p3_1000G_AF=0.685304;p3_1000G_AFR_AF=0.7337;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=20288;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.7187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46085879;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,10:28:99:301,0,591
chr1	45620405	rs3014246	C	T	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.405;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=1.26;SOR=0.574;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3014246;dbSNPBuildID=101;ANN=T|missense_variant|MODERATE|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding|13/13|c.1739G>A|p.Ser580Asn|1889/2250|1739/1869|580/622||,T|missense_variant|MODERATE|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding|13/13|c.1712G>A|p.Ser571Asn|1862/2223|1712/1842|571/613||,T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding||c.*2264C>T|||||1499|,T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding||c.*2264C>T|||||1499|,T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding||c.*2264C>T|||||1499|;p3_1000G_AA=T|||;p3_1000G_AC=3438;p3_1000G_AF=0.686502;p3_1000G_AFR_AF=0.7292;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=22464;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.7207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46086077;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3277,1127;ESP6500_AA_AGE=390.3+/-327.6;ESP6500_AA_GTC=1223,831,148;ESP6500_CDS_SIZES=NM_001190182.1:1842,NM_001114938.2:1869;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=26;ESP6500_EA_AC=6083,2517;ESP6500_EA_AGE=392.7+/-344.1;ESP6500_EA_GTC=2165,1753,382;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001190182.1:missense,NM_001114938.2:missense;ESP6500_GL=CCDC17;ESP6500_GRCh38_POSITION=1:45620405;ESP6500_GS=46,46;ESP6500_GTC=3388,2584,530;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001190182.1:c.1712G>A,NM_001114938.2:c.1739G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001190182.1:p.(S571N),NM_001114938.2:p.(S580N);ESP6500_MAF=29.2674,25.5904,28.0221;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=9360,3644	GT:AD:DP:GQ:PL	0/1:30,11:41:99:233,0,903
chr1	45621241	rs3014245	C	T	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.19;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.41;ReadPosRankSum=0.928;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3014245;dbSNPBuildID=101;ANN=T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding||c.*3100C>T|||||2335|,T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding||c.*3100C>T|||||2335|,T|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding||c.*3100C>T|||||2335|,T|intron_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding|10/12|c.1388+40G>A||||||,T|intron_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding|10/12|c.1361+40G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3434;p3_1000G_AF=0.685703;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=21201;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46086913;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3304,1092;ESP6500_AA_GTC=1257,790,151;ESP6500_CDS_SIZES=NM_001190182.1:1842,NM_001114938.2:1869;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=11;ESP6500_EA_AC=6090,2488;ESP6500_EA_GTC=2190,1710,389;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001190182.1:intron,NM_001114938.2:intron;ESP6500_GL=CCDC17;ESP6500_GRCh38_POSITION=1:45621241;ESP6500_GTC=3447,2500,540;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001190182.1:c.1361+40G>A,NM_001114938.2:c.1388+40G>A;ESP6500_MAF=29.0044,24.8408,27.5936;ESP6500_TAC=9394,3580	GT:AD:DP:GQ:PL	0/1:4,10:14:99:342,0,124
chr1	45621905	rs3014242	G	A	593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.852;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.834;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3014242;dbSNPBuildID=101;ANN=A|missense_variant|MODERATE|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding|8/13|c.1058C>T|p.Pro353Leu|1208/2250|1058/1869|353/622||,A|missense_variant|MODERATE|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding|8/13|c.1031C>T|p.Pro344Leu|1181/2223|1031/1842|344/613||,A|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding||c.*3764G>A|||||2999|,A|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding||c.*3764G>A|||||2999|,A|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding||c.*3764G>A|||||2999|;p3_1000G_AA=G|||;p3_1000G_AC=3391;p3_1000G_AF=0.677117;p3_1000G_AFR_AF=0.7292;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=15821;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46087577;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3289,1117;ESP6500_AA_GTC=1237,815,151;ESP6500_CDS_SIZES=NM_001190182.1:1842,NM_001114938.2:1869;ESP6500_CG=2.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=27;ESP6500_EA_AC=6067,2533;ESP6500_EA_GTC=2157,1753,390;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001190182.1:missense,NM_001114938.2:missense;ESP6500_GL=CCDC17;ESP6500_GRCh38_POSITION=1:45621905;ESP6500_GS=98,98;ESP6500_GTC=3394,2568,541;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001190182.1:c.1031C>T,NM_001114938.2:c.1058C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001190182.1:p.(P344L),NM_001114938.2:p.(P353L);ESP6500_MAF=29.4535,25.3518,28.064;ESP6500_PH=benign:0.14,benign:0.14;ESP6500_TAC=9356,3650	GT:AD:DP:GQ:PL	0/1:16,28:44:99:622,0,368
chr1	45622207	rs3014241;rs544107625	A	G	746.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.11;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.145;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=2.19;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3014241;dbSNPBuildID=101;ANN=G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding||c.*4066A>G|||||3301|,G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding||c.*4066A>G|||||3301|,G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding||c.*4066A>G|||||3301|,G|intron_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding|7/12|c.967+34T>C||||||,G|intron_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding|7/12|c.940+34T>C||||||;p3_1000G_AC=3433;p3_1000G_AF=0.685503;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=18974;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46087879;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP,INDEL;ESP6500_AA=G;ESP6500_AA_AC=3291,1115;ESP6500_AA_GTC=1237,817,149;ESP6500_CDS_SIZES=NM_001190182.1:1842,NM_001114938.2:1869;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=38;ESP6500_EA_AC=6080,2518;ESP6500_EA_GTC=2166,1748,385;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001190182.1:intron,NM_001114938.2:intron;ESP6500_GL=CCDC17;ESP6500_GRCh38_POSITION=1:45622207;ESP6500_GTC=3403,2565,534;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001190182.1:c.940+34T>C,NM_001114938.2:c.967+34T>C;ESP6500_MAF=29.2859,25.3064,27.9376;ESP6500_TAC=9371,3633	GT:AD:DP:GQ:PL	0/1:22,25:47:99:775,0,619
chr1	45623553	rs3014240	C	G	1114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.347;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=5.563;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-1.711;SOR=1.015;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3014240;dbSNPBuildID=101;ANN=G|splice_region_variant&intron_variant|LOW|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding|2/12|c.270+4G>C||||||,G|splice_region_variant&intron_variant|LOW|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding|2/12|c.270+4G>C||||||,G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_002482.3|protein_coding||c.*5412C>G|||||4647|,G|downstream_gene_variant|MODIFIER|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding||c.*4703G>C|||||3751|,G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_001195193.1|protein_coding||c.*5412C>G|||||4647|,G|downstream_gene_variant|MODIFIER|NASP|NASP|transcript|NM_152298.3|protein_coding||c.*5412C>G|||||4647|;p3_1000G_AA=c|||;p3_1000G_AC=3433;p3_1000G_AF=0.685503;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=18310;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46089225;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:43,39:82:99:1143,0,1414
chr1	45628197	rs114265929	T	G	361.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.537;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs114265929;dbSNPBuildID=132;ANN=G|3_prime_UTR_variant|MODIFIER|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding|13/13|c.*59A>C|||||59|,G|upstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding||c.-4288A>C|||||4138|,G|upstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding||c.-4288A>C|||||4138|;p3_1000G_AA=T|||;p3_1000G_AC=77;p3_1000G_AF=0.0153754;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=21511;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46093869;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:390,0,409
chr1	45628355	rs1250	A	G	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.26;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.461;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=1.18;SOR=1.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1250;dbSNPBuildID=36;ANN=G|synonymous_variant|LOW|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding|13/13|c.1326T>C|p.Ser442Ser|2687/3738|1326/1425|442/474||,G|upstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001114938.2|protein_coding||c.-4446T>C|||||4296|,G|upstream_gene_variant|MODIFIER|CCDC17|CCDC17|transcript|NM_001190182.1|protein_coding||c.-4446T>C|||||4296|;p3_1000G_AA=G|||;p3_1000G_AC=1615;p3_1000G_AF=0.322484;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=17803;p3_1000G_EAS_AF=0.3472;p3_1000G_EUR_AF=0.2823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46094027;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1118,3288;ESP6500_AA_AGE=718.0+/-408.8;ESP6500_AA_GTC=148,822,1233;ESP6500_CDS_SIZES=NM_021639.4:1425;ESP6500_CG=6.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=120;ESP6500_EA_AC=2535,6065;ESP6500_EA_AGE=692.7+/-404.6;ESP6500_EA_GTC=387,1761,2152;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021639.4:coding-synonymous;ESP6500_GL=GPBP1L1;ESP6500_GRCh38_POSITION=1:45628355;ESP6500_GTC=535,2583,3385;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021639.4:c.1326T>C;ESP6500_HGVS_PROTEIN_VAR=NM_021639.4:p.(S442);ESP6500_MAF=29.4767,25.3745,28.087;ESP6500_TAC=3653,9353	GT:AD:DP:GQ:PL	0/1:27,12:39:99:363,0,741
chr1	45629471	rs10159068	C	A	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=1.04;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10159068;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding|12/12|c.1272+105G>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1659;p3_1000G_AF=0.33127;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=9951;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.2594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46095143;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:61:64,0,61
chr1	45629600	rs1135812	T	C	659.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.588;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1135812;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding|12/13|c.1248A>G|p.Lys416Lys|2609/3738|1248/1425|416/474||;p3_1000G_AA=T|||;p3_1000G_AC=1598;p3_1000G_AF=0.319089;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=17762;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.2833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46095272;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.409;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1115,3291;ESP6500_AA_AGE=400.8+/-331.7;ESP6500_AA_GTC=145,825,1233;ESP6500_CDS_SIZES=NM_021639.4:1425;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=157;ESP6500_EA_AC=2548,6052;ESP6500_EA_AGE=414.0+/-351.3;ESP6500_EA_GTC=386,1776,2138;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021639.4:coding-synonymous;ESP6500_GL=GPBP1L1;ESP6500_GRCh38_POSITION=1:45629600;ESP6500_GTC=531,2601,3371;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021639.4:c.1248A>G;ESP6500_HGVS_PROTEIN_VAR=NM_021639.4:p.(K416);ESP6500_MAF=29.6279,25.3064,28.1639;ESP6500_TAC=3663,9343	GT:AD:DP:GQ:PL	0/1:23,25:48:99:688,0,533
chr1	45630730	rs10708598	AT	A	75.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.335;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.41;ReadPosRankSum=1.67;SOR=0.631;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10708598;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding|10/12|c.1045-125delA||||||;p3_1000G_AA=?|TTTTTTT|TTTTTT|unsure;p3_1000G_AC=1630;p3_1000G_AF=0.325479;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=22572;p3_1000G_EAS_AF=0.3423;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46096402;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,5:14:99:113,0,235
chr1	45658855	rs10890337	C	T	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10890337;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding|4/12|c.60+173G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1633;p3_1000G_AF=0.326078;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=20514;p3_1000G_EAS_AF=0.3423;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46124527;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:94:94,0,107
chr1	45658886	rs10789468	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.25;ReadPosRankSum=-0.628;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10789468;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding|4/12|c.60+142T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1789;p3_1000G_AF=0.357228;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=20608;p3_1000G_EAS_AF=0.3423;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46124558;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:229,0,115
chr1	45658991	rs6671802	A	G	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.577;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.198;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6671802;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|GPBP1L1|GPBP1L1|transcript|NM_021639.4|protein_coding|4/12|c.60+37T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2521;p3_1000G_AF=0.503395;p3_1000G_AFR_AF=0.5779;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=20373;p3_1000G_EAS_AF=0.3532;p3_1000G_EUR_AF=0.5288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46124663;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2507,1899;ESP6500_AA_AGE=545.2+/-376.7;ESP6500_AA_GTC=723,1061,419;ESP6500_CDS_SIZES=NM_021639.4:1425;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=91;ESP6500_EA_AC=4598,4002;ESP6500_EA_AGE=553.8+/-386.4;ESP6500_EA_GTC=1226,2146,928;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021639.4:intron;ESP6500_GL=GPBP1L1;ESP6500_GRCh38_POSITION=1:45658991;ESP6500_GTC=1949,3207,1347;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021639.4:c.60+37T>C;ESP6500_MAF=46.5349,43.1003,45.3714;ESP6500_TAC=7105,5901	GT:AD:DP:GQ:PL	0/1:13,17:30:99:454,0,313
chr1	45694588	rs6658700	C	T	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.638;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.728;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6658700;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|TMEM69|TMEM69|transcript|NM_016486.3|protein_coding||c.*683C>T|||||152|,T|downstream_gene_variant|MODIFIER|IPP|IPP|transcript|NM_005897.2|protein_coding||c.*5378G>A|||||4147|,T|intron_variant|MODIFIER|IPP|IPP|transcript|NM_001145349.1|protein_coding|9/9|c.1652-73G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1600;p3_1000G_AF=0.319489;p3_1000G_AFR_AF=0.2655;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=19143;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.2833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46160260;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:99:163,0,102
chr1	45700203	rs550999501	G	GA	283.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.217;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=1.42;SOR=1.105;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5773892;dbSNPBuildID=142;ANN=GA|intron_variant|MODIFIER|IPP|IPP|transcript|NM_005897.2|protein_coding|8/8|c.1531-14dupT||||||,GA|intron_variant|MODIFIER|IPP|IPP|transcript|NM_001145349.1|protein_coding|8/9|c.1531-14dupT||||||	GT:AD:DP:GQ:PL	0/1:26,16:42:99:321,0,626
chr1	45729539	rs139068713;rs372814348	TAAC	T	289.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.389;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.34;ReadPosRankSum=0.191;SOR=1.23;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs372814348,rs139068713;dbSNPBuildID=134,138;ANN=T|intron_variant|MODIFIER|IPP|IPP|transcript|NM_005897.2|protein_coding|4/8|c.880+72_880+74delGTT||||||,T|intron_variant|MODIFIER|IPP|IPP|transcript|NM_001145349.1|protein_coding|4/9|c.880+72_880+74delGTT||||||;p3_1000G_AC=1567;p3_1000G_AF=0.312899;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=16484;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.2833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46195211;p3_1000G_GRCH37_REF=TAAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,8:11:99:327,0,124
chr1	45729703	rs28375469	T	C	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.33;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.704;SOR=0.877;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28375469;dbSNPBuildID=125;ANN=C|missense_variant|MODERATE|IPP|IPP|transcript|NM_005897.2|protein_coding|4/9|c.791A>G|p.Lys264Arg|1058/3253|791/1755|264/584||,C|missense_variant|MODERATE|IPP|IPP|transcript|NM_001145349.1|protein_coding|4/10|c.791A>G|p.Lys264Arg|1058/2108|791/1749|264/582||;p3_1000G_AA=T|||;p3_1000G_AC=1577;p3_1000G_AF=0.314896;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=15649;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.2833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46195375;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1088,3318;ESP6500_AA_AGE=393.7+/-329.0;ESP6500_AA_GTC=138,812,1253;ESP6500_CDS_SIZES=NM_005897.2:1755,NM_001145349.1:1749;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=111;ESP6500_EA_AC=2546,6054;ESP6500_EA_AGE=415.3+/-351.7;ESP6500_EA_GTC=384,1778,2138;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005897.2:missense,NM_001145349.1:missense;ESP6500_GL=IPP;ESP6500_GRCh38_POSITION=1:45729703;ESP6500_GS=26,26;ESP6500_GTC=522,2590,3391;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005897.2:c.791A>G,NM_001145349.1:c.791A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005897.2:p.(K264R),NM_001145349.1:p.(K264R);ESP6500_MAF=29.6047,24.6936,27.941;ESP6500_PH=benign:0.006,benign:0.006;ESP6500_TAC=3634,9372	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,12:27:99:0|1:45729696_G_A:346,0,307
chr1	45740868	rs28507722	A	G	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.183;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.957;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28507722;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|IPP|IPP|transcript|NM_005897.2|protein_coding|3/8|c.724+33T>C||||||,G|intron_variant|MODIFIER|IPP|IPP|transcript|NM_001145349.1|protein_coding|3/9|c.724+33T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1577;p3_1000G_AF=0.314896;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=16881;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.2833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46206540;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1088,3318;ESP6500_AA_AGE=374.9+/-321.4;ESP6500_AA_GTC=140,808,1255;ESP6500_CDS_SIZES=NM_005897.2:1755,NM_001145349.1:1749;ESP6500_CG=2.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=50;ESP6500_EA_AC=2543,6055;ESP6500_EA_AGE=389.0+/-342.8;ESP6500_EA_GTC=387,1769,2143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005897.2:intron,NM_001145349.1:intron;ESP6500_GL=IPP;ESP6500_GRCh38_POSITION=1:45740868;ESP6500_GTC=527,2577,3398;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005897.2:c.724+33T>C,NM_001145349.1:c.724+33T>C;ESP6500_MAF=29.5766,24.6936,27.9222;ESP6500_TAC=3631,9373	GT:AD:DP:GQ:PL	0/1:15,19:34:99:528,0,450
chr1	45803753	rs1159320270	G	A	15.43	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.83;MQRankSum=-0.967;QD=5.14;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|5_prime_UTR_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|1/30|c.-143G>A|||||143|,A|5_prime_UTR_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|1/29|c.-143G>A|||||143|,A|5_prime_UTR_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|1/29|c.-143G>A|||||143|	GT:AD:DP:GQ:PL	0/1:1,2:3:1:41,0,1
chr1	45824639	rs10561161;rs34699982	GTA	G	296.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.111;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-2.006;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10561161,rs34699982;dbSNPBuildID=134,130;ANN=G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|2/29|c.325+63_325+64delAT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|2/28|c.325+63_325+64delAT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|2/28|c.325+63_325+64delAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1885;p3_1000G_AF=0.376398;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=18731;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46290311;p3_1000G_GRCH37_REF=GTA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,9:22:99:334,0,498
chr1	45882238	rs6665193	G	A	118.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6665193;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|3/29|c.469-126G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|3/28|c.469-126G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|3/28|c.469-126G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|1/28|c.-66-126G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4379;p3_1000G_AF=0.874401;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=15391;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.7177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46347910;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr1	45917348	rs41286710	C	T	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.191;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.435;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-2.307;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41286710;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|4/29|c.500+34953C>T||||||,T|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|4/28|c.500+34953C>T||||||,T|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|4/28|c.500+34953C>T||||||,T|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|2/28|c.-34-14875C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=126;p3_1000G_AF=0.0251597;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=18898;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0.0378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46383020;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=37,1715;ESP6500_AA_GTC=0,37,839;ESP6500_CDS_SIZES=NM_015112.2:5397;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=55;ESP6500_EA_AC=172,3810;ESP6500_EA_GTC=3,166,1822;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015112.2:intron;ESP6500_GL=MAST2;ESP6500_GRCh38_POSITION=1:45917348;ESP6500_GTC=3,203,2661;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015112.2:c.500+34953C>T;ESP6500_MAF=4.3194,2.1119,3.6449;ESP6500_TAC=209,5525	GT:AD:DP:GQ:PL	0/1:21,20:41:99:548,0,624
chr1	45932269	rs6669522	A	G	932.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.285;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.076;SOR=0.752;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6669522;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|3/29|c.13A>G|p.Lys5Glu|871/5851|13/4935|5/1644||,G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|4/29|c.501-27117A>G||||||,G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|4/28|c.501-27117A>G||||||,G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|4/28|c.501-27117A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2425;p3_1000G_AF=0.484225;p3_1000G_AFR_AF=0.4251;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=19146;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46397941;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,39:58:99:961,0,375
chr1	45959292	rs4460582	G	A	557.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4460582;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|4/29|c.501-94G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|4/28|c.501-94G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|4/28|c.501-94G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|3/28|c.18-94G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4998;p3_1000G_AF=0.998003;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19491;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46424964;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:586,45,0
chr1	46001049	rs11589562	T	C	240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.273;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-1.275;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11589562;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|7/29|c.689+70T>C||||||,C|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|6/28|c.669-1756T>C||||||,C|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|6/28|c.669-1756T>C||||||,C|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|6/28|c.206+70T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2424;p3_1000G_AF=0.484026;p3_1000G_AFR_AF=0.4251;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=22099;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46466721;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,12:34:99:269,0,577
chr1	46008230	rs3922886	A	T	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.259;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.04;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3922886;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|9/29|c.924-66A>T||||||,T|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|8/28|c.903-66A>T||||||,T|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|8/28|c.903-66A>T||||||,T|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|8/28|c.441-66A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1837;p3_1000G_AF=0.366813;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=19295;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46473902;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,15:25:99:333,0,186
chr1	46010915	rs11211247	T	G	2873.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11211247;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|11/30|c.1185T>G|p.Asp395Glu|1474/5765|1185/5418|395/1805||,G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|10/29|c.1164T>G|p.Asp388Glu|1447/5735|1164/5394|388/1797||,G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_015112.2|protein_coding|10/29|c.1164T>G|p.Asp388Glu|1447/5738|1164/5397|388/1798||,G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|10/29|c.702T>G|p.Asp234Glu|1560/5851|702/4935|234/1644||;p3_1000G_AA=G|||;p3_1000G_AC=4379;p3_1000G_AF=0.874401;p3_1000G_AFR_AF=0.9221;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=20236;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46476587;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3329,409;ESP6500_AA_GTC=1487,355,27;ESP6500_CDS_SIZES=NM_015112.2:5397;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=61;ESP6500_EA_AC=6062,2142;ESP6500_EA_GTC=2242,1578,282;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015112.2:missense;ESP6500_GL=MAST2;ESP6500_GRCh38_POSITION=1:46010915;ESP6500_GS=45;ESP6500_GTC=3729,1933,309;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015112.2:c.1164T>G;ESP6500_HGVS_PROTEIN_VAR=NM_015112.2:p.(D388E);ESP6500_MAF=26.1092,10.9417,21.3616;ESP6500_PH=benign:0.0;ESP6500_TAC=9391,2551	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2902,246,0
chr1	46021880	rs2275426	G	A	839.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.943;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=5.329;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=0.367;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275426;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|12/29|c.1312-70G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|11/28|c.1291-70G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|11/28|c.1291-70G>A||||||,A|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|11/28|c.829-70G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=22536;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.4453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46487552;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,21:38:99:0|1:46021880_G_A:868,0,1015
chr1	46021888	rs946524	A	G	894.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.699;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.88;ReadPosRankSum=0.894;SOR=1.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs946524;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|12/29|c.1312-62A>G||||||,G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|11/28|c.1291-62A>G||||||,G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_015112.2|protein_coding|11/28|c.1291-62A>G||||||,G|intron_variant|MODIFIER|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|11/28|c.829-62A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3128;p3_1000G_AF=0.624601;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=22597;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.7306;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46487560;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,25:45:99:0|1:46021880_G_A:923,0,1039
chr1	46027788	rs1707336	T	G	356.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.301;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.503;SOR=0.999;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1707336;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|18/30|c.1998T>G|p.Ile666Met|2287/5765|1998/5418|666/1805||,G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|17/29|c.1977T>G|p.Ile659Met|2260/5735|1977/5394|659/1797||,G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_015112.2|protein_coding|17/29|c.1977T>G|p.Ile659Met|2260/5738|1977/5397|659/1798||,G|missense_variant|MODERATE|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|17/29|c.1515T>G|p.Ile505Met|2373/5851|1515/4935|505/1644||;p3_1000G_AA=T|||;p3_1000G_AC=2430;p3_1000G_AF=0.485224;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=21616;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.4463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46493460;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1588,2230;ESP6500_AA_GTC=341,906,662;ESP6500_CDS_SIZES=NM_015112.2:5397;ESP6500_CG=-0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=113;ESP6500_EA_AC=3613,4673;ESP6500_EA_GTC=806,2001,1336;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015112.2:missense;ESP6500_GL=MAST2;ESP6500_GRCh38_POSITION=1:46027788;ESP6500_GS=10;ESP6500_GTC=1147,2907,1998;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015112.2:c.1977T>G;ESP6500_HGVS_PROTEIN_VAR=NM_015112.2:p.(I659M);ESP6500_MAF=43.6037,41.5925,42.9693;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=5201,6903	GT:AD:DP:GQ:PL	0/1:20,16:36:99:385,0,455
chr1	46031037	rs925524	A	G	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.734;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs925524;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|24/30|c.2760A>G|p.Ser920Ser|3049/5765|2760/5418|920/1805||,G|synonymous_variant|LOW|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|23/29|c.2739A>G|p.Ser913Ser|3022/5735|2739/5394|913/1797||,G|synonymous_variant|LOW|MAST2|MAST2|transcript|NM_015112.2|protein_coding|23/29|c.2739A>G|p.Ser913Ser|3022/5738|2739/5397|913/1798||,G|synonymous_variant|LOW|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|23/29|c.2277A>G|p.Ser759Ser|3135/5851|2277/4935|759/1644||;p3_1000G_AA=G|||;p3_1000G_AC=3225;p3_1000G_AF=0.64397;p3_1000G_AFR_AF=0.5794;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=17286;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.7396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46496709;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2578,1510;ESP6500_AA_GTC=827,924,293;ESP6500_CDS_SIZES=NM_015112.2:5397;ESP6500_CG=-9.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=32;ESP6500_EA_AC=6013,2353;ESP6500_EA_GTC=2162,1689,332;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015112.2:coding-synonymous;ESP6500_GL=MAST2;ESP6500_GRCh38_POSITION=1:46031037;ESP6500_GTC=2989,2613,625;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015112.2:c.2739A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015112.2:p.(S913);ESP6500_MAF=28.1257,36.9374,31.0181;ESP6500_TAC=8591,3863	GT:AD:DP:GQ:PL	0/1:9,11:20:99:305,0,240
chr1	46032703	rs1622208	A	G	534.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.28;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=2.928;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=2.25;SOR=0.531;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1622208;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|MAST2|MAST2|transcript|NM_001324320.1|protein_coding|27/30|c.3543A>G|p.Val1181Val|3832/5765|3543/5418|1181/1805||,G|synonymous_variant|LOW|MAST2|MAST2|transcript|NM_001319245.1|protein_coding|26/29|c.3522A>G|p.Val1174Val|3805/5735|3522/5394|1174/1797||,G|synonymous_variant|LOW|MAST2|MAST2|transcript|NM_015112.2|protein_coding|26/29|c.3522A>G|p.Val1174Val|3805/5738|3522/5397|1174/1798||,G|synonymous_variant|LOW|MAST2|MAST2|transcript|NM_001324321.1|protein_coding|26/29|c.3060A>G|p.Val1020Val|3918/5851|3060/4935|1020/1644||;p3_1000G_AA=G|||;p3_1000G_AC=3444;p3_1000G_AF=0.6877;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=19107;p3_1000G_EAS_AF=0.7073;p3_1000G_EUR_AF=0.7346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46498375;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3303,1101;ESP6500_AA_AGE=369.1+/-318.9;ESP6500_AA_GTC=1237,829,136;ESP6500_CDS_SIZES=NM_015112.2:5397;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=113;ESP6500_EA_AC=6106,2494;ESP6500_EA_AGE=396.6+/-345.4;ESP6500_EA_GTC=2176,1754,370;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015112.2:coding-synonymous;ESP6500_GL=MAST2;ESP6500_GRCh38_POSITION=1:46032703;ESP6500_GTC=3413,2583,506;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015112.2:c.3522A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015112.2:p.(V1174);ESP6500_MAF=29.0,25.0,27.6453;ESP6500_TAC=9409,3595	GT:AD:DP:GQ:PL	0/1:15,19:34:99:563,0,335
chr1	46055845	rs785468	G	A	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.325;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.438;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs785468;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001303427.1|protein_coding|7/10|c.1029C>T|p.Ser343Ser|1053/5081|1029/1524|343/507||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001328651.1|protein_coding|7/10|c.759C>T|p.Ser253Ser|836/4864|759/1254|253/417||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001328650.1|protein_coding|7/10|c.759C>T|p.Ser253Ser|846/4874|759/1254|253/417||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001328652.1|protein_coding|7/9|c.891C>T|p.Ser297Ser|1647/5504|891/1215|297/404||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001328653.1|protein_coding|6/9|c.648C>T|p.Ser216Ser|1538/5566|648/1143|216/380||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001328654.1|protein_coding|5/8|c.423C>T|p.Ser141Ser|1439/5467|423/918|141/305||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_003629.3|protein_coding|7/10|c.891C>T|p.Ser297Ser|1647/5675|891/1386|297/461||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001303428.1|protein_coding|8/11|c.942C>T|p.Ser314Ser|992/5020|942/1437|314/478||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001114172.1|protein_coding|8/11|c.891C>T|p.Ser297Ser|1148/5176|891/1386|297/461||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001328649.1|protein_coding|7/10|c.759C>T|p.Ser253Ser|1038/5066|759/1254|253/417||,A|synonymous_variant|LOW|PIK3R3|PIK3R3|transcript|NM_001328648.1|protein_coding|7/10|c.759C>T|p.Ser253Ser|850/4878|759/1254|253/417||,A|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303429.1|protein_coding|6/8|c.764+6084C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NR_137329.1|pseudogene|6/9|n.1466C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3195;p3_1000G_AF=0.637979;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=15100;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.7336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46521517;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2648,1758;ESP6500_AA_AGE=522.2+/-370.7;ESP6500_AA_GTC=802,1044,357;ESP6500_CDS_SIZES=NM_003629.3:1386,NM_001114172.1:1386;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=206;ESP6500_EA_AC=6086,2514;ESP6500_EA_AGE=411.6+/-350.5;ESP6500_EA_GTC=2163,1760,377;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003629.3:coding-synonymous,NM_001114172.1:coding-synonymous;ESP6500_GL=PIK3R3;ESP6500_GRCh38_POSITION=1:46055845;ESP6500_GTC=2965,2804,734;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003629.3:c.891C>T,NM_001114172.1:c.891C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003629.3:p.(S297),NM_001114172.1:p.(S297);ESP6500_MAF=29.2326,39.9001,32.8464;ESP6500_TAC=8734,4272	GT:AD:DP:GQ:PL	0/1:17,24:41:99:567,0,352
chr1	46055887	rs785467	A	T	521.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.579;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.152;SOR=0.604;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs785467;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001303427.1|protein_coding|7/10|c.987T>A|p.Asn329Lys|1011/5081|987/1524|329/507||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001328651.1|protein_coding|7/10|c.717T>A|p.Asn239Lys|794/4864|717/1254|239/417||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001328650.1|protein_coding|7/10|c.717T>A|p.Asn239Lys|804/4874|717/1254|239/417||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001328652.1|protein_coding|7/9|c.849T>A|p.Asn283Lys|1605/5504|849/1215|283/404||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001328653.1|protein_coding|6/9|c.606T>A|p.Asn202Lys|1496/5566|606/1143|202/380||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001328654.1|protein_coding|5/8|c.381T>A|p.Asn127Lys|1397/5467|381/918|127/305||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_003629.3|protein_coding|7/10|c.849T>A|p.Asn283Lys|1605/5675|849/1386|283/461||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001303428.1|protein_coding|8/11|c.900T>A|p.Asn300Lys|950/5020|900/1437|300/478||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001114172.1|protein_coding|8/11|c.849T>A|p.Asn283Lys|1106/5176|849/1386|283/461||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001328649.1|protein_coding|7/10|c.717T>A|p.Asn239Lys|996/5066|717/1254|239/417||,T|missense_variant|MODERATE|PIK3R3|PIK3R3|transcript|NM_001328648.1|protein_coding|7/10|c.717T>A|p.Asn239Lys|808/4878|717/1254|239/417||,T|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303429.1|protein_coding|6/8|c.764+6042T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NR_137329.1|pseudogene|6/9|n.1424T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3416;p3_1000G_AF=0.682109;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=17376;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.7346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46521559;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3252,1154;ESP6500_AA_AGE=408.2+/-334.5;ESP6500_AA_GTC=1200,852,151;ESP6500_CDS_SIZES=NM_003629.3:1386,NM_001114172.1:1386;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=149;ESP6500_EA_AC=6090,2510;ESP6500_EA_AGE=410.1+/-350.0;ESP6500_EA_GTC=2167,1756,377;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003629.3:missense,NM_001114172.1:missense;ESP6500_GL=PIK3R3;ESP6500_GRCh38_POSITION=1:46055887;ESP6500_GS=94,94;ESP6500_GTC=3367,2608,528;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_003629.3:c.849T>A,NM_001114172.1:c.849T>A;ESP6500_HGVS_PROTEIN_VAR=NM_003629.3:p.(N283K),NM_001114172.1:p.(N283K);ESP6500_MAF=29.186,26.1916,28.1716;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9342,3664	GT:AD:DP:GQ:PL	0/1:16,21:37:99:550,0,368
chr1	46080536	rs1768803	T	C	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-0.664;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1768803;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303427.1|protein_coding|2/9|c.353+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328651.1|protein_coding|2/9|c.83+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328650.1|protein_coding|2/9|c.83+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303429.1|protein_coding|2/8|c.215+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328652.1|protein_coding|2/8|c.215+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328653.1|protein_coding|1/8|c.-28-2923A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328654.1|protein_coding|1/7|c.-154-13445A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_003629.3|protein_coding|2/9|c.215+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NR_137329.1|pseudogene|2/8|n.971+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303428.1|protein_coding|3/10|c.266+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001114172.1|protein_coding|3/10|c.215+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328649.1|protein_coding|2/9|c.83+106A>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328648.1|protein_coding|2/9|c.83+106A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2485;p3_1000G_AF=0.496206;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=19407;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.4483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46546208;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:157,0,376
chr1	46132597	rs1707304	C	A	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.589;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.86;ReadPosRankSum=0;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1707304;dbSNPBuildID=89;ANN=A|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303429.1|protein_coding|1/9|c.-645G>T|||||645|,A|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328652.1|protein_coding|1/9|c.-645G>T|||||645|,A|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328653.1|protein_coding|1/9|c.-779G>T|||||55012|,A|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328654.1|protein_coding|1/8|c.-905G>T|||||65660|,A|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_003629.3|protein_coding|1/10|c.-645G>T|||||645|,A|upstream_gene_variant|MODIFIER|LOC101929626|LOC101929626|transcript|NR_125987.1|pseudogene||n.-774C>A|||||774|,A|upstream_gene_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328651.1|protein_coding||c.-51873G>T|||||1924|,A|upstream_gene_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328650.1|protein_coding||c.-51873G>T|||||826|,A|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303427.1|protein_coding|1/9|c.244+43631G>T||||||,A|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303428.1|protein_coding|1/10|c.47+102G>T||||||,A|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001114172.1|protein_coding|1/10|c.-5+187G>T||||||,A|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328649.1|protein_coding|1/9|c.-27+187G>T||||||,A|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328648.1|protein_coding|1/9|c.-27+42240G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NR_137329.1|pseudogene|1/9|n.112G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2491;p3_1000G_AF=0.497404;p3_1000G_AFR_AF=0.4811;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=11564;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.4463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46598269;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,7:9:99:0|1:46132597_C_A:288,0,135
chr1	46132601	rs1707303	A	C	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.68;ReadPosRankSum=0.61;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1707303;dbSNPBuildID=89;ANN=C|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303429.1|protein_coding|1/9|c.-649T>G|||||649|,C|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328652.1|protein_coding|1/9|c.-649T>G|||||649|,C|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328653.1|protein_coding|1/9|c.-783T>G|||||55016|,C|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328654.1|protein_coding|1/8|c.-909T>G|||||65664|,C|5_prime_UTR_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_003629.3|protein_coding|1/10|c.-649T>G|||||649|,C|upstream_gene_variant|MODIFIER|LOC101929626|LOC101929626|transcript|NR_125987.1|pseudogene||n.-770A>C|||||770|,C|upstream_gene_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328651.1|protein_coding||c.-51877T>G|||||1928|,C|upstream_gene_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328650.1|protein_coding||c.-51877T>G|||||830|,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303427.1|protein_coding|1/9|c.244+43627T>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303428.1|protein_coding|1/10|c.47+98T>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001114172.1|protein_coding|1/10|c.-5+183T>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328649.1|protein_coding|1/9|c.-27+183T>G||||||,C|intron_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328648.1|protein_coding|1/9|c.-27+42236T>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NR_137329.1|pseudogene|1/9|n.108T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3200;p3_1000G_AF=0.638978;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=11585;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46598273;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,7:10:99:0|1:46132597_C_A:285,0,170
chr1	46181108	rs2234266	A	G	474.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.593;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.94;SOR=0.853;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2234266;dbSNPBuildID=98;ANN=G|start_lost|HIGH|TSPAN1|TSPAN1|transcript|NM_005727.3|protein_coding|3/9|c.1A>G|p.Met1?|475/1629|1/726|1/241||,G|sequence_feature|LOW|TSPAN1|TSPAN1|topological-domain:Cytoplasmic|NM_005727.3|protein_coding|3/9|c.1A>G||||||,G|upstream_gene_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001303427.1|protein_coding||c.-4637T>C|||||4613|,G|upstream_gene_variant|MODIFIER|PIK3R3|PIK3R3|transcript|NM_001328655.1|protein_coding||c.-4637T>C|||||4613|;LOF=(TSPAN1|TSPAN1|1|1.00);p3_1000G_AA=A|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21605;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46646780;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_005727.3:726;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=138;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005727.3:missense;ESP6500_GL=TSPAN1;ESP6500_GRCh38_POSITION=1:46181108;ESP6500_GS=21;ESP6500_GTC=0,1,6502;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005727.3:c.1A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005727.3:p.(M1V);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,18:41:99:0|1:46181107_C_A:503,0,596
chr1	46189486	rs6659553;167524	T	C	887.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.64;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6659553;dbSNPBuildID=116;ANN=C|missense_variant&splice_region_variant|MODERATE|POMGNT1|POMGNT1|transcript|NM_001243766.1|protein_coding|21/23|c.1867A>G|p.Met623Val|2518/2936|1867/2247|623/748||,C|missense_variant|MODERATE|POMGNT1|POMGNT1|transcript|NM_001290129.1|protein_coding|20/22|c.1801A>G|p.Met601Val|1939/2383|1801/1917|601/638||,C|missense_variant|MODERATE|POMGNT1|POMGNT1|transcript|NM_001290130.1|protein_coding|20/22|c.1438A>G|p.Met480Val|1905/2349|1438/1554|480/517||,C|missense_variant|MODERATE|POMGNT1|POMGNT1|transcript|NM_017739.3|protein_coding|21/22|c.1867A>G|p.Met623Val|2031/2736|1867/1983|623/660||,C|downstream_gene_variant|MODIFIER|TSPAN1|TSPAN1|transcript|NM_005727.3|protein_coding||c.*3953T>C|||||3524|;p3_1000G_AA=C|||;p3_1000G_AC=4720;p3_1000G_AF=0.942492;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=16370;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46655158;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3647,759;ESP6500_AA_AGE=307.5+/-290.0;ESP6500_AA_GTC=1519,609,75;ESP6500_CDS_SIZES=NM_017739.3:1983,NM_001243766.1:2247;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=33;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017739.3:missense,NM_001243766.1:missense;ESP6500_GL=POMGNT1;ESP6500_GRCh38_POSITION=1:46189486;ESP6500_GS=21,21;ESP6500_GTC=5814,614,75;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017739.3:c.1867A>G,NM_001243766.1:c.1867A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017739.3:p.(M623V),NM_001243766.1:p.(M623V);ESP6500_MAF=0.0581,17.2265,5.8742;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12242,764;CLINVAR_ALLELEID=177974;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.46189486T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TSPAN1:10103|POMGNT1:55624;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6659553	GT:AD:DP:GQ:PL	1/1:0,31:31:93:916,93,0
chr1	46278228	rs1048771	C	T	520.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.844;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.811;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.149;SOR=1.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1048771;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|RAD54L|RAD54L|transcript|NM_001142548.1|protein_coding|19/19|c.2190C>T|p.Ala730Ala|2304/2549|2190/2244|730/747||,T|synonymous_variant|LOW|RAD54L|RAD54L|transcript|NM_003579.3|protein_coding|18/18|c.2190C>T|p.Ala730Ala|2901/3146|2190/2244|730/747||,T|downstream_gene_variant|MODIFIER|LRRC41|LRRC41|transcript|NM_006369.4|protein_coding||c.*637G>A|||||172|;p3_1000G_AA=C|||;p3_1000G_AC=930;p3_1000G_AF=0.185703;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=16392;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.1382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46743900;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4059;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=190,4216;ESP6500_AA_AGE=120.4+/-158.0;ESP6500_AA_GTC=4,182,2017;ESP6500_CDS_SIZES=NM_003579.3:2244,NM_001142548.1:2244;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=35;ESP6500_EA_AC=1045,7555;ESP6500_EA_AGE=218.0+/-256.5;ESP6500_EA_GTC=56,933,3311;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003579.3:coding-synonymous,NM_001142548.1:coding-synonymous;ESP6500_GL=RAD54L;ESP6500_GRCh38_POSITION=1:46278228;ESP6500_GTC=60,1115,5328;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003579.3:c.2190C>T,NM_001142548.1:c.2190C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003579.3:p.(A730),NM_001142548.1:p.(A730);ESP6500_MAF=12.1512,4.3123,9.4956;ESP6500_TAC=1235,11771	GT:AD:DP:GQ:PL	0/1:32,22:54:99:549,0,962
chr1	46280492	rs11542623	C	T	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.109;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.891;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.1;ReadPosRankSum=-1.309;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11542623;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|LRRC41|LRRC41|transcript|NM_006369.4|protein_coding|6/10|c.1825G>A|p.Val609Ile|1869/2948|1825/2439|609/812||,T|downstream_gene_variant|MODIFIER|RAD54L|RAD54L|transcript|NM_001142548.1|protein_coding||c.*2210C>T|||||2019|,T|downstream_gene_variant|MODIFIER|RAD54L|RAD54L|transcript|NM_003579.3|protein_coding||c.*2210C>T|||||2019|;p3_1000G_AA=C|||;p3_1000G_AC=931;p3_1000G_AF=0.185903;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=18916;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46746164;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4059;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=191,4215;ESP6500_AA_AGE=121.7+/-159.2;ESP6500_AA_GTC=3,185,2015;ESP6500_CDS_SIZES=NM_006369.4:2439;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=90;ESP6500_EA_AC=1050,7550;ESP6500_EA_AGE=221.9+/-259.1;ESP6500_EA_GTC=60,930,3310;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006369.4:missense;ESP6500_GL=LRRC41;ESP6500_GRCh38_POSITION=1:46280492;ESP6500_GS=29;ESP6500_GTC=63,1115,5325;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006369.4:c.1825G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006369.4:p.(V609I);ESP6500_MAF=12.2093,4.335,9.5417;ESP6500_PH=benign:0.14;ESP6500_TAC=1241,11765	GT:AD:DP:GQ:PL	0/1:7,20:27:99:571,0,185
chr1	46341287	rs11579255	C	T	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.679;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.44;ReadPosRankSum=0.405;SOR=0.799;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11579255;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256127.1|protein_coding|1/6|c.-633C>T|||||3568|,T|5_prime_UTR_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256128.1|protein_coding|1/6|c.-265C>T|||||3568|,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_199044.3|protein_coding|1/5|c.93+368C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045789.1|pseudogene|1/6|n.744-36C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045790.1|pseudogene|1/4|n.743+368C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045791.1|pseudogene|1/4|n.743+368C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1529;p3_1000G_AF=0.305312;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=12093;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.3439;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46806959;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:99,0,248
chr1	46342039	rs41293281	C	T	1339.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.691;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=1.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.56;SOR=0.664;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41293281;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_199044.3|protein_coding|1/5|c.93+1120C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045789.1|pseudogene|2/6|n.918+542C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045790.1|pseudogene|1/4|n.743+1120C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045791.1|pseudogene|1/4|n.743+1120C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256127.1|protein_coding|1/5|c.-55+174C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256128.1|protein_coding|1/5|c.-55+542C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=878;p3_1000G_AF=0.175319;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=17030;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.1123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46807711;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1368,0,1382
chr1	46342370	rs12563610	C	T	1410.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.642;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=12.991;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.67;SOR=1.524;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12563610;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_199044.3|protein_coding|1/5|c.93+1451C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045789.1|pseudogene|2/6|n.918+873C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045790.1|pseudogene|1/4|n.743+1451C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045791.1|pseudogene|1/4|n.743+1451C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256127.1|protein_coding|1/5|c.-55+505C>T||||||,T|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256128.1|protein_coding|1/5|c.-55+873C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=653;p3_1000G_AF=0.130391;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=17270;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46808042;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1439,0,1356
chr1	46343186	rs76976909	G	GC	672.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.867;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.142;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.21;SOR=1.059;INS;HET;VARTYPE=INS;dbSNP138_ID=rs76976909;dbSNPBuildID=131;ANN=GC|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_199044.3|protein_coding|1/5|c.94-1609dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045789.1|pseudogene|2/6|n.919-1609dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045790.1|pseudogene|1/4|n.744-1609dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045791.1|pseudogene|1/4|n.744-1609dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256127.1|protein_coding|1/5|c.-55+1327dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256128.1|protein_coding|1/5|c.-54-1609dupC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:25,28:53:99:710,0,619
chr1	46344858	rs3737744	A	G	1087.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.48;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.801;SOR=0.476;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737744;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|NSUN4|NSUN4|transcript|NM_199044.3|protein_coding|2/6|c.151A>G|p.Thr51Ala|801/5111|151/1155|51/384||,G|missense_variant|MODERATE|NSUN4|NSUN4|transcript|NM_001256127.1|protein_coding|2/6|c.4A>G|p.Thr2Ala|746/5056|4/1008|2/335||,G|missense_variant|MODERATE|NSUN4|NSUN4|transcript|NM_001256128.1|protein_coding|2/6|c.4A>G|p.Thr2Ala|378/4688|4/1008|2/335||,G|non_coding_transcript_exon_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045789.1|pseudogene|3/7|n.976A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045790.1|pseudogene|2/5|n.801A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045791.1|pseudogene|2/5|n.801A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1525;p3_1000G_AF=0.304513;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=23393;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.3419;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46810530;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=801,3605;ESP6500_AA_AGE=321.5+/-297.2;ESP6500_AA_GTC=77,647,1479;ESP6500_CDS_SIZES=NM_199044.3:1155,NM_001256128.1:1008,NM_001256127.1:1008;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=175;ESP6500_EA_AC=2849,5751;ESP6500_EA_AGE=449.1+/-362.0;ESP6500_EA_GTC=466,1917,1917;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199044.3:missense,NM_001256128.1:missense,NM_001256127.1:missense;ESP6500_GL=NSUN4;ESP6500_GRCh38_POSITION=1:46344858;ESP6500_GS=58,58,58;ESP6500_GTC=543,2564,3396;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_199044.3:c.151A>G,NM_001256128.1:c.4A>G,NM_001256127.1:c.4A>G;ESP6500_HGVS_PROTEIN_VAR=NM_199044.3:p.(T51A),NM_001256128.1:p.(T2A),NM_001256127.1:p.(T2A);ESP6500_MAF=33.1279,18.1798,28.064;ESP6500_PH=benign:0.004,benign:0.004,benign:0.004;ESP6500_TAC=3650,9356	GT:AD:DP:GQ:PL	0/1:52,37:89:99:1116,0,1487
chr1	46361542	rs324414	A	C	992.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs324414;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_199044.3|protein_coding|5/5|c.879-28A>C||||||,C|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045789.1|pseudogene|6/6|n.1704-28A>C||||||,C|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045790.1|pseudogene|4/4|n.1374-28A>C||||||,C|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045791.1|pseudogene|4/4|n.1192-28A>C||||||,C|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256127.1|protein_coding|5/5|c.732-28A>C||||||,C|intron_variant|MODIFIER|NSUN4|NSUN4|transcript|NM_001256128.1|protein_coding|5/5|c.732-28A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=23915;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46827214;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4387,19;ESP6500_AA_AGE=26.2+/-53.5;ESP6500_AA_GTC=2184,19,0;ESP6500_CDS_SIZES=NM_199044.3:1155,NM_001256128.1:1008,NM_001256127.1:1008;ESP6500_CG=-0.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=79;ESP6500_EA_AC=8425,175;ESP6500_EA_AGE=79.5+/-142.1;ESP6500_EA_GTC=4126,173,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199044.3:intron,NM_001256128.1:intron,NM_001256127.1:intron;ESP6500_GL=NSUN4;ESP6500_GRCh38_POSITION=1:46361542;ESP6500_GTC=6310,192,1;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_199044.3:c.879-28A>C,NM_001256128.1:c.732-28A>C,NM_001256127.1:c.732-28A>C;ESP6500_MAF=2.0349,0.4312,1.4916;ESP6500_TAC=12812,194	GT:AD:DP:GQ:PL	1/1:0,25:25:75:1021,75,0
chr1	46361784	rs9865	A	G	1269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.88;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=6.025;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.24;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9865;dbSNPBuildID=52;ANN=G|missense_variant|MODERATE|NSUN4|NSUN4|transcript|NM_199044.3|protein_coding|6/6|c.1093A>G|p.Ile365Val|1743/5111|1093/1155|365/384||,G|missense_variant|MODERATE|NSUN4|NSUN4|transcript|NM_001256127.1|protein_coding|6/6|c.946A>G|p.Ile316Val|1688/5056|946/1008|316/335||,G|missense_variant|MODERATE|NSUN4|NSUN4|transcript|NM_001256128.1|protein_coding|6/6|c.946A>G|p.Ile316Val|1320/4688|946/1008|316/335||,G|non_coding_transcript_exon_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045789.1|pseudogene|7/7|n.1918A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045790.1|pseudogene|5/5|n.1588A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NSUN4|NSUN4|transcript|NR_045791.1|pseudogene|5/5|n.1406A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1020;p3_1000G_AF=0.203674;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=24169;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.1501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46827456;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=281,4125;ESP6500_AA_AGE=157.4+/-190.3;ESP6500_AA_GTC=8,265,1930;ESP6500_CDS_SIZES=NM_199044.3:1155,NM_001256128.1:1008,NM_001256127.1:1008;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=166;ESP6500_EA_AC=1160,7440;ESP6500_EA_AGE=237.5+/-269.3;ESP6500_EA_GTC=76,1008,3216;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199044.3:missense,NM_001256128.1:missense,NM_001256127.1:missense;ESP6500_GL=NSUN4;ESP6500_GRCh38_POSITION=1:46361784;ESP6500_GS=29,29,29;ESP6500_GTC=84,1273,5146;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_199044.3:c.1093A>G,NM_001256128.1:c.946A>G,NM_001256127.1:c.946A>G;ESP6500_HGVS_PROTEIN_VAR=NM_199044.3:p.(I365V),NM_001256128.1:p.(I316V),NM_001256127.1:p.(I316V);ESP6500_MAF=13.4884,6.3777,11.0795;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=1441,11565	GT:AD:DP:GQ:PL	0/1:43,42:85:99:1298,0,996
chr1	46406314	rs324419	T	C	1378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.005;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs324419;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|FAAH|FAAH|transcript|NM_001441.2|protein_coding|7/15|c.897T>C|p.Cys299Cys|979/2095|897/1740|299/579||;p3_1000G_AA=C|||;p3_1000G_AC=4429;p3_1000G_AF=0.884385;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=16676;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.8519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46871986;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8088;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3750,656;ESP6500_AA_AGE=276.9+/-273.4;ESP6500_AA_GTC=1597,556,50;ESP6500_CDS_SIZES=NM_001441.2:1740;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=82;ESP6500_EA_AC=7198,1402;ESP6500_EA_AGE=271.1+/-289.3;ESP6500_EA_GTC=3009,1180,111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001441.2:coding-synonymous;ESP6500_GL=FAAH;ESP6500_GRCh38_POSITION=1:46406314;ESP6500_GTC=4606,1736,161;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001441.2:c.897T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001441.2:p.(C299);ESP6500_MAF=16.3023,14.8888,15.8235;ESP6500_TAC=10948,2058	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1407,126,0
chr1	46507022	rs12567122	C	T	957.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.889;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-2.212;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12567122;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|DMBX1|DMBX1|transcript|NM_147192.2|protein_coding|1/4|c.12C>T|p.Tyr4Tyr|27/2884|12/1149|4/382||,T|synonymous_variant|LOW|DMBX1|DMBX1|transcript|NM_172225.1|protein_coding|1/4|c.12C>T|p.Tyr4Tyr|27/2869|12/1134|4/377||;p3_1000G_AA=C|||;p3_1000G_AC=421;p3_1000G_AF=0.0840655;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=20267;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.0099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46972694;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=37,4369;ESP6500_AA_AGE=39.2+/-71.8;ESP6500_AA_GTC=0,37,2166;ESP6500_CDS_SIZES=NM_172225.1:1134,NM_147192.2:1149;ESP6500_CG=-1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=80;ESP6500_EA_AC=53,8547;ESP6500_EA_AGE=33.8+/-87.4;ESP6500_EA_GTC=0,53,4247;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172225.1:coding-synonymous,NM_147192.2:coding-synonymous;ESP6500_GL=DMBX1;ESP6500_GRCh38_POSITION=1:46507022;ESP6500_GTC=0,90,6413;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172225.1:c.12C>T,NM_147192.2:c.12C>T;ESP6500_HGVS_PROTEIN_VAR=NM_172225.1:p.(Y4),NM_147192.2:p.(Y4);ESP6500_MAF=0.6163,0.8398,0.692;ESP6500_TAC=90,12916	GT:AD:DP:GQ:PL	0/1:47,42:89:99:986,0,1338
chr1	46510790	rs57363509	G	A	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.228;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.967;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57363509;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|DMBX1|DMBX1|transcript|NM_147192.2|protein_coding|2/3|c.348+136G>A||||||,A|intron_variant|MODIFIER|DMBX1|DMBX1|transcript|NM_172225.1|protein_coding|2/3|c.333+136G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=420;p3_1000G_AF=0.0838658;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=19175;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.0099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46976462;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:242,0,215
chr1	46510858	rs12045200	C	G	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.882;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.55;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12045200;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|DMBX1|DMBX1|transcript|NM_147192.2|protein_coding|2/3|c.349-77C>G||||||,G|intron_variant|MODIFIER|DMBX1|DMBX1|transcript|NM_172225.1|protein_coding|2/3|c.334-77C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1515;p3_1000G_AF=0.302516;p3_1000G_AFR_AF=0.4924;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=19141;p3_1000G_EAS_AF=0.2718;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46976530;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:245,0,163
chr1	46511045	rs12045245	C	T	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.249;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=0.668;SOR=1.349;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12045245;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|DMBX1|DMBX1|transcript|NM_147192.2|protein_coding|3/4|c.459C>T|p.Ala153Ala|474/2884|459/1149|153/382||,T|synonymous_variant|LOW|DMBX1|DMBX1|transcript|NM_172225.1|protein_coding|3/4|c.444C>T|p.Ala148Ala|459/2869|444/1134|148/377||;p3_1000G_AA=C|||;p3_1000G_AC=1516;p3_1000G_AF=0.302716;p3_1000G_AFR_AF=0.4924;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=17349;p3_1000G_EAS_AF=0.2718;p3_1000G_EUR_AF=0.175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46976717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1891,2515;ESP6500_AA_AGE=537.0+/-374.6;ESP6500_AA_GTC=392,1107,704;ESP6500_CDS_SIZES=NM_172225.1:1134,NM_147192.2:1149;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=1401,7199;ESP6500_EA_AGE=269.1+/-288.2;ESP6500_EA_GTC=146,1109,3045;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172225.1:coding-synonymous,NM_147192.2:coding-synonymous;ESP6500_GL=DMBX1;ESP6500_GRCh38_POSITION=1:46511045;ESP6500_GTC=538,2216,3749;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172225.1:c.444C>T,NM_147192.2:c.459C>T;ESP6500_HGVS_PROTEIN_VAR=NM_172225.1:p.(A148),NM_147192.2:p.(A153);ESP6500_MAF=16.2907,42.9187,25.3114;ESP6500_TAC=3292,9714	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,9:24:99:0|1:46511044_C_A:275,0,397
chr1	46549158	rs60803470	A	AG	1076.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.42;QD=34.68;SOR=1.519;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs60803470;dbSNPBuildID=129;ANN=AG|intron_variant|MODIFIER|MKNK1-AS1|MKNK1-AS1|transcript|NR_038403.1|pseudogene|3/7|n.254+5390_254+5391insG||||||,AG|intron_variant|MODIFIER|KNCN|KNCN|transcript|NM_001322255.1|protein_coding|3/3|c.295+34_295+35insC||||||,AG|intron_variant|MODIFIER|KNCN|KNCN|transcript|NM_001097611.1|protein_coding|2/2|c.226+34_226+35insC||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:78:1|1:46549158_A_AG:1114,78,0
chr1	46549160	rs376333496	A	AAAAG	1111.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.46;QD=28.19;SOR=1.445;INS;HOM;VARTYPE=INS;dbSNPBuildID=138;ANN=AAAAG|intron_variant|MODIFIER|MKNK1-AS1|MKNK1-AS1|transcript|NR_038403.1|pseudogene|3/7|n.254+5392_254+5393insAAAG||||||,AAAAG|intron_variant|MODIFIER|KNCN|KNCN|transcript|NM_001322255.1|protein_coding|3/3|c.295+32_295+33insCTTT||||||,AAAAG|intron_variant|MODIFIER|KNCN|KNCN|transcript|NM_001097611.1|protein_coding|2/2|c.226+32_226+33insCTTT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:81:1|1:46549158_A_AG:1149,81,0
chr1	46549816	rs56849633	CTA	C	2249.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=0.9;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56849633;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|MKNK1-AS1|MKNK1-AS1|transcript|NR_038403.1|pseudogene|3/7|n.254+6049_254+6050delTA||||||,C|intron_variant|MODIFIER|KNCN|KNCN|transcript|NM_001322255.1|protein_coding|2/3|c.220+116_220+117delTA||||||,C|intron_variant|MODIFIER|KNCN|KNCN|transcript|NM_001097611.1|protein_coding|1/2|c.152-551_152-550delTA||||||;p3_1000G_AC=449;p3_1000G_AF=0.0896565;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=20129;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47015488;p3_1000G_GRCH37_REF=CTA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,51:51:99:1|1:46549816_CTA_C:2287,154,0
chr1	46549819	rs199854360	GC	G	2248.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.38;SOR=0.9;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs199854360;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|MKNK1-AS1|MKNK1-AS1|transcript|NR_038403.1|pseudogene|3/7|n.254+6052delC||||||,G|intron_variant|MODIFIER|KNCN|KNCN|transcript|NM_001322255.1|protein_coding|2/3|c.220+114delG||||||,G|intron_variant|MODIFIER|KNCN|KNCN|transcript|NM_001097611.1|protein_coding|1/2|c.152-553delG||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=449;p3_1000G_AF=0.0896565;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=19075;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47015491;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,51:51:99:1|1:46549816_CTA_C:2286,154,0
chr1	46612965	rs4660947	T	C	2328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=1.545;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4660947;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|MOB3C|MOB3C|transcript|NM_145279.4|protein_coding|2/4|c.513A>G|p.Ala171Ala|570/2804|513/807|171/268||,C|synonymous_variant|LOW|MOB3C|MOB3C|transcript|NM_201403.2|protein_coding|2/4|c.357A>G|p.Ala119Ala|588/2822|357/651|119/216||;p3_1000G_AA=C|||;p3_1000G_AC=3371;p3_1000G_AF=0.673123;p3_1000G_AFR_AF=0.5779;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=14769;p3_1000G_EAS_AF=0.9583;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47078637;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2521,1881;ESP6500_AA_AGE=511.6+/-367.8;ESP6500_AA_GTC=730,1061,410;ESP6500_CDS_SIZES=NM_201403.2:651,NM_145279.4:807;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=44;ESP6500_EA_AC=4126,4470;ESP6500_EA_AGE=577.7+/-390.6;ESP6500_EA_GTC=992,2142,1164;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201403.2:coding-synonymous,NM_145279.4:coding-synonymous;ESP6500_GL=MOB3C;ESP6500_GRCh38_POSITION=1:46612965;ESP6500_GTC=1722,3203,1574;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201403.2:c.357A>G,NM_145279.4:c.513A>G;ESP6500_HGVS_PROTEIN_VAR=NM_201403.2:p.(A119),NM_145279.4:p.(A171);ESP6500_MAF=47.9991,42.7306,48.8614;ESP6500_TAC=6647,6351	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2357,213,0
chr1	46615007	rs6671527	G	A	1020.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.35;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6671527;dbSNPBuildID=116;ANN=A|stop_gained|HIGH|MOB3C|MOB3C|transcript|NM_145279.4|protein_coding|1/4|c.70C>T|p.Arg24*|127/2804|70/807|24/268||,A|intron_variant|MODIFIER|MOB3C|MOB3C|transcript|NM_201403.2|protein_coding|1/3|c.-50-1636C>T||||||;LOF=(MOB3C|MOB3C|2|0.50);NMD=(MOB3C|MOB3C|2|0.50);p3_1000G_AA=A|||;p3_1000G_AC=3216;p3_1000G_AF=0.642173;p3_1000G_AFR_AF=0.5643;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=15802;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.4751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47080679;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2458,1948;ESP6500_AA_AGE=552.3+/-378.5;ESP6500_AA_GTC=687,1084,432;ESP6500_CDS_SIZES=NM_201403.2:651,NM_145279.4:807;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=82;ESP6500_EA_AC=4029,4571;ESP6500_EA_AGE=597.2+/-393.7;ESP6500_EA_GTC=943,2143,1214;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201403.2:intron,NM_145279.4:stop-gained;ESP6500_GL=MOB3C;ESP6500_GRCh38_POSITION=1:46615007;ESP6500_GTC=1630,3227,1646;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201403.2:c.-1686C>T,NM_145279.4:c.70C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_145279.4:p.(R24*);ESP6500_MAF=46.8488,44.2124,49.877;ESP6500_TAC=6487,6519	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1049,108,0
chr1	46633674	rs723333	C	A	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.862;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=7.605;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.59;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs723333;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding||c.*2102G>T|||||1365|,A|downstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding||c.*2102G>T|||||1365|,A|downstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding||c.*2102G>T|||||1365|,A|downstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding||c.*2102G>T|||||1365|,A|intergenic_region|MODIFIER|MOB3C-ATPAF1|MOB3C-ATPAF1|intergenic_region|MOB3C-ATPAF1|||n.46633674C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3752;p3_1000G_AF=0.749201;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=19273;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.9841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47099346;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,13:21:99:294,0,240
chr1	46643156	rs736188	T	C	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.701;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.475;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.17;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs736188;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|8/8|c.861+38A>G||||||,C|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|8/8|c.528+38A>G||||||,C|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|9/9|c.339+38A>G||||||,C|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|6/6|c.658-7186A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3764;p3_1000G_AF=0.751597;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=21513;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.9841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47108828;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8528;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2695,1709;ESP6500_AA_AGE=498.1+/-364.0;ESP6500_AA_GTC=837,1021,344;ESP6500_CDS_SIZES=NM_022745.4:1056,NM_001256418.1:534,NM_001243728.1:723,NM_001042546.2:852;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=28;ESP6500_EA_AC=8552,46;ESP6500_EA_AGE=29.0+/-79.6;ESP6500_EA_GTC=4253,46,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022745.4:intron,NM_001256418.1:intron,NM_001243728.1:intron,NM_001042546.2:intron;ESP6500_GL=ATPAF1;ESP6500_GRCh38_POSITION=1:46643156;ESP6500_GTC=5090,1067,344;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022745.4:c.861+38A>G,NM_001256418.1:c.339+38A>G,NM_001243728.1:c.528+38A>G,NM_001042546.2:c.658-7186A>G;ESP6500_MAF=0.535,38.8056,13.4979;ESP6500_TAC=11247,1755	GT:AD:DP:GQ:PL	0/1:18,14:32:99:350,0,474
chr1	46645094	rs3215990;rs397809302	G	GC	191.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.434;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=-1.004;SOR=0.148;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3215990;dbSNPBuildID=126,138;ANN=GC|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|7/8|c.753+66dupG||||||,GC|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|7/8|c.420+66dupG||||||,GC|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|8/9|c.231+66dupG||||||,GC|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|6/6|c.657+7486dupG||||||;p3_1000G_AA=C|C|CC|insertion;p3_1000G_AC=3760;p3_1000G_AF=0.750799;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=18672;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.9841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47110766;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8528;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,7:11:99:229,0,114
chr1	46652424	rs2289446	C	A	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.158;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289446;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|6/8|c.657+157G>T||||||,A|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|6/8|c.324+157G>T||||||,A|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|7/9|c.135+157G>T||||||,A|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|6/6|c.657+157G>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1446;p3_1000G_AF=0.288738;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=18771;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.2982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47118096;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:205,0,216
chr1	46652496	rs2289447	C	T	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.136;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.564;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.714;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289447;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|6/8|c.657+85G>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|6/8|c.324+85G>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|7/9|c.135+85G>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|6/6|c.657+85G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=949;p3_1000G_AF=0.189497;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=19979;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.2903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47118168;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,17:30:99:470,0,354
chr1	46652517	rs620431	G	T	1255.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.58;SOR=1.308;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs620431;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|6/8|c.657+64C>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|6/8|c.324+64C>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|7/9|c.135+64C>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|6/6|c.657+64C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2699;p3_1000G_AF=0.538938;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=20121;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47118189;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=798,586;ESP6500_AA_GTC=236,326,130;ESP6500_CDS_SIZES=NM_022745.4:1056,NM_001256418.1:534,NM_001243728.1:723,NM_001042546.2:852;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=120;ESP6500_EA_AC=854,2328;ESP6500_EA_GTC=102,650,839;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022745.4:intron,NM_001256418.1:intron,NM_001243728.1:intron,NM_001042546.2:intron;ESP6500_GL=ATPAF1;ESP6500_GRCh38_POSITION=1:46652517;ESP6500_GTC=338,976,969;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_022745.4:c.657+64C>A,NM_001256418.1:c.135+64C>A,NM_001243728.1:c.324+64C>A,NM_001042546.2:c.657+64C>A;ESP6500_MAF=26.8385,42.341,36.1805;ESP6500_TAC=1652,2914	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1284,105,0
chr1	46653676	rs604264	C	T	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.15;SOR=0.042;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs604264;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|5/8|c.609+141G>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|5/8|c.276+141G>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|6/9|c.87+141G>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|5/6|c.609+141G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=946;p3_1000G_AF=0.188898;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=19353;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47119348;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:157,0,171
chr1	46658226	rs199652843;rs397839992;rs575350010	TAAA	T	347.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.214;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.62;ReadPosRankSum=-1.304;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs199652843;dbSNPBuildID=137,142,138;ANN=T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|3/8|c.496-40_496-38delTTT||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|3/8|c.163-40_163-38delTTT||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|4/9|c.-27-40_-27-38delTTT||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|3/6|c.496-40_496-38delTTT||||||	GT:AD:DP:GQ:PL	0/1:2,9:11:36:385,0,36
chr1	46658532	rs34308534;rs397700367;rs397749656	C	CA	262.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.33;SOR=4.174;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34308534;dbSNPBuildID=132,138,138;ANN=CA|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|3/8|c.495+154dupT||||||,CA|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|3/8|c.162+154dupT||||||,CA|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|4/9|c.-28+154dupT||||||,CA|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|3/6|c.495+154dupT||||||;p3_1000G_AA=AAAA|AAA|AAAA|deletion;p3_1000G_AC=2697;p3_1000G_AF=0.538538;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=17424;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.3131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47124204;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:27:300,27,0
chr1	46658807	rs611468	A	G	526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs611468;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|2/8|c.445-70T>C||||||,G|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|2/8|c.112-70T>C||||||,G|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|3/9|c.-78-70T>C||||||,G|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|2/6|c.445-70T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2698;p3_1000G_AF=0.538738;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=16725;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.3131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47124479;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=807,577;ESP6500_AA_GTC=236,335,121;ESP6500_CDS_SIZES=NM_022745.4:1056,NM_001256418.1:534,NM_001243728.1:723,NM_001042546.2:852;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=37;ESP6500_EA_AC=871,2311;ESP6500_EA_GTC=103,665,823;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022745.4:intron,NM_001256418.1:intron,NM_001243728.1:intron,NM_001042546.2:intron;ESP6500_GL=ATPAF1;ESP6500_GRCh38_POSITION=1:46658807;ESP6500_GTC=339,1000,944;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022745.4:c.445-70T>C,NM_001256418.1:c.-645T>C,NM_001243728.1:c.112-70T>C,NM_001042546.2:c.445-70T>C;ESP6500_MAF=27.3727,41.6908,36.7499;ESP6500_TAC=1678,2888	GT:AD:DP:GQ:PL	1/1:0,16:16:48:555,48,0
chr1	46665201	rs594118	A	G	1017.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs594118;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|2/8|c.444+55T>C||||||,G|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|2/8|c.111+55T>C||||||,G|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|2/9|c.-170+55T>C||||||,G|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|2/6|c.444+55T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2740;p3_1000G_AF=0.547125;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=20478;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47130873;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1046,96,0
chr1	46665576	rs596794	G	A	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.847;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=1.66;SOR=0.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs596794;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|1/8|c.336-212C>T||||||,A|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|1/8|c.2+71C>T||||||,A|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|1/9|c.-279+71C>T||||||,A|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|1/6|c.336-212C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1246;p3_1000G_AF=0.248802;p3_1000G_AFR_AF=0.4637;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=18951;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47131248;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,18:29:99:474,0,292
chr1	46665647	rs597221	A	T	568.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.363;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.109;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs597221;dbSNPBuildID=83;ANN=T|start_lost&splice_region_variant|HIGH|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding|1/9|c.2T>A|p.Met1?|232/1690|2/723|1/240||,T|splice_region_variant|LOW|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|1/10|c.-279T>A||||||,T|5_prime_UTR_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding|1/10|c.-279T>A|||||7485|,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|1/8|c.336-283T>A||||||,T|intron_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|1/6|c.336-283T>A||||||;LOF=(ATPAF1|ATPAF1|4|0.25);p3_1000G_AA=A|||;p3_1000G_AC=1246;p3_1000G_AF=0.248802;p3_1000G_AFR_AF=0.4637;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=18534;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47131319;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,25:48:99:597,0,528
chr1	46668139	rs11211337	T	C	391.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11211337;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding|1/9|c.253A>G|p.Ser85Gly|289/1829|253/1056|85/351||,C|missense_variant|MODERATE|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding|1/7|c.253A>G|p.Ser85Gly|289/1625|253/852|85/283||,C|upstream_gene_variant|MODIFIER|TEX38|TEX38|transcript|NM_001145474.3|protein_coding||c.-3796T>C|||||3694|,C|upstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001243728.1|protein_coding||c.-2491A>G|||||2261|,C|upstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001256418.1|protein_coding||c.-9977A>G|||||2261|,C|upstream_gene_variant|MODIFIER|TEX38|TEX38|transcript|NM_001300863.1|protein_coding||c.-4859T>C|||||3694|,C|upstream_gene_variant|MODIFIER|TEX38|TEX38|transcript|NM_001300864.1|protein_coding||c.-4925T>C|||||3694|;p3_1000G_AA=c|||;p3_1000G_AC=4180;p3_1000G_AF=0.834665;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=6966;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.7853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47133811;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:420,42,0
chr1	46672772	rs616249	C	T	437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs616249;dbSNPBuildID=83;ANN=T|upstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding||c.-4381G>A|||||4345|,T|upstream_gene_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038827.1|pseudogene||n.-1264C>T|||||1264|,T|upstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding||c.-4381G>A|||||4345|,T|upstream_gene_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038828.1|pseudogene||n.-1264C>T|||||1264|,T|downstream_gene_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding||c.*5689G>A|||||2387|,T|intron_variant|MODIFIER|TEX38|TEX38|transcript|NM_001145474.3|protein_coding|1/1|c.38-101C>T||||||,T|intron_variant|MODIFIER|TEX38|TEX38|transcript|NM_001300863.1|protein_coding|1/1|c.-46-180C>T||||||,T|intron_variant|MODIFIER|TEX38|TEX38|transcript|NM_001300864.1|protein_coding|1/1|c.-40-252C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=21151;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47138444;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:466,42,0
chr1	46673147	rs614486	T	G	3456.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.77;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs614486;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|TEX38|TEX38|transcript|NM_001145474.3|protein_coding|2/2|c.312T>G|p.Asp104Glu|414/851|312/621|104/206||,G|missense_variant|MODERATE|TEX38|TEX38|transcript|NM_001300863.1|protein_coding|2/2|c.150T>G|p.Asp50Glu|335/772|150/459|50/152||,G|missense_variant|MODERATE|TEX38|TEX38|transcript|NM_001300864.1|protein_coding|2/2|c.84T>G|p.Asp28Glu|263/700|84/393|28/130||,G|upstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_022745.4|protein_coding||c.-4756A>C|||||4720|,G|upstream_gene_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038827.1|pseudogene||n.-889T>G|||||889|,G|upstream_gene_variant|MODIFIER|ATPAF1|ATPAF1|transcript|NM_001042546.2|protein_coding||c.-4756A>C|||||4720|,G|upstream_gene_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038828.1|pseudogene||n.-889T>G|||||889|,G|downstream_gene_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding||c.*5314A>C|||||2012|;p3_1000G_AA=G|||;p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.6513;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=19138;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.3121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47138819;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=817,567;ESP6500_AA_GTC=235,347,110;ESP6500_CDS_SIZES=NM_001145474.2:621;ESP6500_CG=1.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=70;ESP6500_EA_AC=868,2314;ESP6500_EA_GTC=102,664,825;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001145474.2:missense;ESP6500_GL=ATPAF1-AS1;ESP6500_GRCh38_POSITION=1:46673147;ESP6500_GS=45;ESP6500_GTC=337,1011,935;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001145474.2:c.312T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001145474.2:p.(D104E);ESP6500_MAF=27.2784,40.9682,36.9032;ESP6500_PH=benign:0.0;ESP6500_TAC=1685,2881	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3485,294,0
chr1	46673431	rs1025806	C	T	878.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.719;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=1.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.233;SOR=0.918;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1025806;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|TEX38|TEX38|transcript|NM_001145474.3|protein_coding|2/2|c.596C>T|p.Ala199Val|698/851|596/621|199/206||,T|missense_variant|MODERATE|TEX38|TEX38|transcript|NM_001300863.1|protein_coding|2/2|c.434C>T|p.Ala145Val|619/772|434/459|145/152||,T|missense_variant|MODERATE|TEX38|TEX38|transcript|NM_001300864.1|protein_coding|2/2|c.368C>T|p.Ala123Val|547/700|368/393|123/130||,T|upstream_gene_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038827.1|pseudogene||n.-605C>T|||||605|,T|upstream_gene_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038828.1|pseudogene||n.-605C>T|||||605|,T|downstream_gene_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding||c.*5030G>A|||||1728|;p3_1000G_AA=C|||;p3_1000G_AC=1333;p3_1000G_AF=0.266174;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=20137;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47139103;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=258,1126;ESP6500_AA_GTC=17,224,451;ESP6500_CDS_SIZES=NM_001145474.2:621;ESP6500_CG=3.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=52;ESP6500_EA_AC=849,2333;ESP6500_EA_GTC=97,655,839;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001145474.2:missense;ESP6500_GL=ATPAF1-AS1;ESP6500_GRCh38_POSITION=1:46673431;ESP6500_GS=64;ESP6500_GTC=114,879,1290;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001145474.2:c.596C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001145474.2:p.(A199V);ESP6500_MAF=26.6813,18.6416,24.2444;ESP6500_PH=possibly-damaging:0.573;ESP6500_TAC=1107,3459	GT:AD:DP:GQ:PL	0/1:43,36:79:99:907,0,1040
chr1	46678411	rs9094	T	C	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.03;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.9;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9094;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding|11/11|c.*50A>G|||||50|,C|downstream_gene_variant|MODIFIER|TEX38|TEX38|transcript|NM_001145474.3|protein_coding||c.*4955T>C|||||4827|,C|downstream_gene_variant|MODIFIER|TEX38|TEX38|transcript|NM_001300863.1|protein_coding||c.*4955T>C|||||4827|,C|downstream_gene_variant|MODIFIER|TEX38|TEX38|transcript|NM_001300864.1|protein_coding||c.*4955T>C|||||4827|,C|intron_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038827.1|pseudogene|1/3|n.185-3770T>C||||||,C|intron_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038828.1|pseudogene|1/2|n.184+4192T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=846;p3_1000G_AF=0.16893;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=18039;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47144083;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=565,3841;ESP6500_AA_AGE=250.0+/-257.2;ESP6500_AA_GTC=35,495,1673;ESP6500_CDS_SIZES=NM_014774.2:1488;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=45;ESP6500_EA_AC=30,8570;ESP6500_EA_AGE=21.6+/-65.8;ESP6500_EA_GTC=0,30,4270;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014774.2:utr-3;ESP6500_GL=KIAA0494;ESP6500_GRCh38_POSITION=1:46678411;ESP6500_GTC=35,525,5943;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014774.2:c.*50A>G;ESP6500_MAF=0.3488,12.8234,4.5748;ESP6500_TAC=595,12411	GT:AD:DP:GQ:PL	0/1:10,8:18:99:248,0,281
chr1	46686958	rs3766223	C	A	86.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.342;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.703;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766223;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038827.1|pseudogene|3/3|n.359+195C>A||||||,A|intron_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding|7/10|c.988-88G>T||||||,A|intron_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038828.1|pseudogene|2/2|n.275+195C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1137;p3_1000G_AF=0.227037;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=20542;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.0149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47152630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:79:115,0,79
chr1	46688600	rs2304745	C	T	536.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.219;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.903;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304745;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038827.1|pseudogene|3/3|n.359+1837C>T||||||,T|intron_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding|6/10|c.796-56G>A||||||,T|intron_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038828.1|pseudogene|2/2|n.275+1837C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1275;p3_1000G_AF=0.254593;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=23501;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.2992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47154272;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,19:36:99:565,0,597
chr1	46689790	rs2241862	G	A	777.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2241862;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038827.1|pseudogene|3/3|n.360-2084G>A||||||,A|intron_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding|5/10|c.691-99C>T||||||,A|intron_variant|MODIFIER|EFCAB14-AS1|EFCAB14-AS1|transcript|NR_038828.1|pseudogene|2/2|n.276-2084G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2692;p3_1000G_AF=0.53754;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=22771;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.3121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47155462;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:806,78,0
chr1	46716248	rs10718376;rs1370571970	CA	C	50.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.18;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11342962,rs10718376;dbSNPBuildID=151,138;ANN=C|intron_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding|2/10|c.334+46delT||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:14:88,14,0
chr1	46716534	rs3737731	C	T	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.587;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.405;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737731;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|EFCAB14|EFCAB14|transcript|NM_014774.2|protein_coding|1/10|c.186-91G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1377;p3_1000G_AF=0.27496;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=19903;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.2982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47182206;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:201,0,290
chr1	46885362	rs5003006	T	A	169.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.76;QD=33.98;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5003006;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|CYP4Z2P|CYP4Z2P|transcript|NR_002788.2|pseudogene|4/11|n.533+94A>T||||||;p3_1000G_AA=N|||;p3_1000G_AC=2532;p3_1000G_AF=0.505591;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=15933;p3_1000G_EAS_AF=0.5437;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47351034;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:198,15,0
chr1	46885380	rs5003005	A	T	368.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.76;QD=33.52;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5003005;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|CYP4Z2P|CYP4Z2P|transcript|NR_002788.2|pseudogene|4/11|n.533+76T>A||||||;p3_1000G_AA=N|||;p3_1000G_AC=2637;p3_1000G_AF=0.526558;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=16178;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47351052;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:397,33,0
chr1	46930301	rs1126743	G	A	2333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.96;QD=31.54;SOR=1.288;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1126743;dbSNPBuildID=130;ANN=A|synonymous_variant|LOW|CYP4A11|CYP4A11|transcript|NM_000778.3|protein_coding|12/12|c.1374C>T|p.Ile458Ile|1425/2552|1374/1560|458/519||,A|synonymous_variant|LOW|CYP4A11|CYP4A11|transcript|NM_001319155.1|protein_coding|12/12|c.1278C>T|p.Ile426Ile|1329/2456|1278/1464|426/487||,A|non_coding_transcript_exon_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134988.1|pseudogene|10/10|n.1079C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134989.1|pseudogene|11/11|n.1270C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134990.1|pseudogene|11/11|n.1264C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134991.1|pseudogene|11/11|n.1251C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134992.1|pseudogene|8/8|n.880C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134993.1|pseudogene|9/9|n.1014C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134994.1|pseudogene|11/11|n.1286C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2862;p3_1000G_AF=0.571486;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=21566;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.7773;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47395973;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6656;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1869,2537;ESP6500_AA_GTC=420,1029,754;ESP6500_CDS_SIZES=NM_000778.3:1560;ESP6500_CG=-8.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=106;ESP6500_EA_AC=6718,1882;ESP6500_EA_GTC=2641,1436,223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000778.3:coding-synonymous;ESP6500_GL=CYP4A11;ESP6500_GRCh38_POSITION=1:46930301;ESP6500_GTC=3061,2465,977;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000778.3:c.1374C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000778.3:p.(I458);ESP6500_MAF=21.8837,42.4194,33.9766;ESP6500_TAC=8587,4419	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2362,222,0
chr1	46933071	rs3890011	G	C	1934.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.79;SOR=1.532;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3890011;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NM_000778.3|protein_coding|9/11|c.1223-24C>G||||||,C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NM_001319155.1|protein_coding|9/11|c.1127-24C>G||||||,C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134988.1|pseudogene|7/9|n.928-24C>G||||||,C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134989.1|pseudogene|8/10|n.1119-24C>G||||||,C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134990.1|pseudogene|9/10|n.1178-234C>G||||||,C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134991.1|pseudogene|8/10|n.1100-24C>G||||||,C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134992.1|pseudogene|6/7|n.794-234C>G||||||,C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134993.1|pseudogene|7/8|n.928-234C>G||||||,C|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134994.1|pseudogene|8/10|n.1135-24C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2862;p3_1000G_AF=0.571486;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=21741;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.7763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47398743;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6656;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1869,2537;ESP6500_AA_AGE=539.8+/-375.3;ESP6500_AA_GTC=420,1029,754;ESP6500_CDS_SIZES=NM_000778.3:1560;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=303;ESP6500_EA_AC=6717,1883;ESP6500_EA_AGE=728.4+/-406.7;ESP6500_EA_GTC=2640,1437,223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000778.3:intron;ESP6500_GL=CYP4A11;ESP6500_GRCh38_POSITION=1:46933071;ESP6500_GTC=3060,2466,977;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000778.3:c.1223-24C>G;ESP6500_MAF=21.8953,42.4194,33.9843;ESP6500_TAC=8586,4420	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1963,177,0
chr1	46934387	rs9333012	A	G	3130.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.52;QD=34.03;SOR=1.28;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71500102;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NM_000778.3|protein_coding|7/11|c.898-21T>C||||||,G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NM_001319155.1|protein_coding|7/11|c.802-21T>C||||||,G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134988.1|pseudogene|6/9|n.793+66T>C||||||,G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134989.1|pseudogene|6/10|n.794-21T>C||||||,G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134990.1|pseudogene|7/10|n.853-21T>C||||||,G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134991.1|pseudogene|6/10|n.775-21T>C||||||,G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134992.1|pseudogene|6/7|n.793+66T>C||||||,G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134993.1|pseudogene|6/8|n.793+66T>C||||||,G|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134994.1|pseudogene|7/10|n.948+66T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4901;p3_1000G_AF=0.978634;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs71500102;p3_1000G_DP=9572;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47400059;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,92:92:99:3159,277,0
chr1	46935752	rs2269231	A	T	539.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.96;QD=33.74;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2269231;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NM_000778.3|protein_coding|4/11|c.511-105T>A||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NM_001319155.1|protein_coding|4/11|c.511-105T>A||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134988.1|pseudogene|4/9|n.562-105T>A||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134989.1|pseudogene|4/10|n.562-105T>A||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134990.1|pseudogene|4/10|n.562-105T>A||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134991.1|pseudogene|4/10|n.543-105T>A||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134992.1|pseudogene|4/7|n.562-105T>A||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134993.1|pseudogene|4/8|n.562-105T>A||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134994.1|pseudogene|4/10|n.562-105T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2858;p3_1000G_AF=0.570687;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=22357;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.7763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47401424;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:568,48,0
chr1	46936815	rs67512144;rs879174056	TTGTG	T	2362.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=37.16;SOR=1.733;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs72276548,rs67512144;dbSNPBuildID=135,147;ANN=T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NM_000778.3|protein_coding|3/11|c.383-28_383-25delCACA||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NM_001319155.1|protein_coding|3/11|c.383-28_383-25delCACA||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134988.1|pseudogene|3/9|n.434-28_434-25delCACA||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134989.1|pseudogene|3/10|n.434-28_434-25delCACA||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134990.1|pseudogene|3/10|n.434-28_434-25delCACA||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134991.1|pseudogene|3/10|n.415-28_415-25delCACA||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134992.1|pseudogene|3/7|n.434-28_434-25delCACA||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134993.1|pseudogene|3/8|n.434-28_434-25delCACA||||||,T|intron_variant|MODIFIER|CYP4A11|CYP4A11|transcript|NR_134994.1|pseudogene|3/10|n.434-28_434-25delCACA||||||	GT:AD:DP:GQ:PL	1/1:0,51:51:99:2332,173,0
chr1	47030150	rs12141009	C	T	509.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.39;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12141009;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CYP4X1|CYP4X1|transcript|NM_178033.1|protein_coding|2/11|c.319+19C>T||||||,T|intron_variant|MODIFIER|CYP4X1|CYP4X1|transcript|NM_001320289.1|protein_coding|2/11|c.316+19C>T||||||,T|intron_variant|MODIFIER|CYP4X1|CYP4X1|transcript|NM_001320290.1|protein_coding|2/11|c.124+19C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1834;p3_1000G_AF=0.366214;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=19086;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.2425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47495822;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=695,3711;ESP6500_AA_AGE=281.6+/-276.1;ESP6500_AA_GTC=57,581,1565;ESP6500_CDS_SIZES=NM_178033.1:1530;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=70;ESP6500_EA_AC=2018,6582;ESP6500_EA_AGE=349.1+/-327.3;ESP6500_EA_GTC=236,1546,2518;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178033.1:intron;ESP6500_GL=CYP4X1;ESP6500_GRCh38_POSITION=1:47030150;ESP6500_GTC=293,2127,4083;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178033.1:c.319+19C>T;ESP6500_MAF=23.4651,15.7739,20.8596;ESP6500_TAC=2713,10293	GT:AD:DP:GQ:PL	1/1:0,14:14:42:538,42,0
chr1	47031311	rs12041262	C	A	544.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12041262;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CYP4X1|CYP4X1|transcript|NM_178033.1|protein_coding|2/11|c.320-125C>A||||||,A|intron_variant|MODIFIER|CYP4X1|CYP4X1|transcript|NM_001320289.1|protein_coding|2/11|c.317-125C>A||||||,A|intron_variant|MODIFIER|CYP4X1|CYP4X1|transcript|NM_001320290.1|protein_coding|2/11|c.125-125C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2290;p3_1000G_AF=0.457268;p3_1000G_AFR_AF=0.4062;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=20897;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.2485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47496983;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:573,51,0
chr1	47084574	rs201981953	G	GA	197.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.98;QD=28.25;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs201981953;dbSNPBuildID=137;ANN=GA|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|4/11|c.493-43dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=aaaa|AAA|AAAA|deletion;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.4977;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=14523;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.3131;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47550246;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=INDEL;ESP6500_AA_AC=1453,2669;ESP6500_AA_GTC=467,519,1075;ESP6500_CDS_SIZES=NM_178134.2:1518;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DP=34;ESP6500_EA_AC=1824,6364;ESP6500_EA_GTC=372,1080,2642;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178134.2:intron;ESP6500_GL=CYP4Z1;ESP6500_GRCh38_POSITION=1:47084574;ESP6500_GTC=839,1599,3717;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_178134.2:c.493-46_493-45insA;ESP6500_MAF=22.2765,35.2499,26.6206;ESP6500_TAC=3277,9033	GT:AD:DP:GQ:PL	1/1:0,7:7:21:235,21,0
chr1	47106230	rs4926802	C	T	1346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.23;QD=33.23;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4926802;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|9/12|c.1170C>T|p.Ile390Ile|1173/1907|1170/1518|390/505||;p3_1000G_AA=T|||;p3_1000G_AC=2953;p3_1000G_AF=0.589657;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=17743;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.34;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47571902;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2180,2226;ESP6500_AA_AGE=582.0+/-385.5;ESP6500_AA_GTC=552,1076,575;ESP6500_CDS_SIZES=NM_178134.2:1518;ESP6500_CG=-6.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=91;ESP6500_EA_AC=2807,5793;ESP6500_EA_AGE=670.8+/-402.8;ESP6500_EA_GTC=419,1969,1912;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178134.2:coding-synonymous;ESP6500_GL=CYP4Z1;ESP6500_GRCh38_POSITION=1:47106230;ESP6500_GTC=971,3045,2487;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178134.2:c.1170C>T;ESP6500_HGVS_PROTEIN_VAR=NM_178134.2:p.(I390);ESP6500_MAF=32.6395,49.478,38.3438;ESP6500_TAC=4987,8019	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,31:31:93:1|1:47106230_C_T:1375,93,0
chr1	47106233	rs28463559	C	T	1321.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.13;QD=31.57;SOR=1.143;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28463559;dbSNPBuildID=125;ANN=T|synonymous_variant|LOW|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|9/12|c.1173C>T|p.Thr391Thr|1176/1907|1173/1518|391/505||;p3_1000G_AA=C|||;p3_1000G_AC=2902;p3_1000G_AF=0.579473;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=17755;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.339;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47571905;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:90:1|1:47106230_C_T:1350,90,0
chr1	47106271	rs149137568;rs34936674;rs572508609	CTTT	C	587.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.53;QD=27.99;SOR=0.818;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs149137568,rs34936674;dbSNPBuildID=134,142,129;ANN=C|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|9/11|c.1201+24_1201+26delTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,15:15:45:625,45,0
chr1	47106324	rs4926804	T	C	328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.67;QD=29.89;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4926804;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|9/11|c.1201+63T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2981;p3_1000G_AF=0.595248;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=17337;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47571996;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:357,33,0
chr1	47106374	rs4926805	C	T	170.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4926805;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|9/11|c.1201+113C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2969;p3_1000G_AF=0.592851;p3_1000G_AFR_AF=0.5174;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=19851;p3_1000G_EAS_AF=0.9544;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47572046;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:199,15,0
chr1	47115450	rs7547893	A	T	182.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.11;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7547893;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|9/11|c.1202-79A>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=2910;p3_1000G_AF=0.58107;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=17931;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47581122;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6667;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:211,21,0
chr1	47116523	rs10890464	G	A	265.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10890464;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|10/11|c.1267-127G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2972;p3_1000G_AF=0.59345;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=18021;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.34;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47582195;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:294,24,0
chr1	47116570	rs145561171;rs56709867	ATTTCGT	A	727.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.51;QD=31.27;SOR=2.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56709867,rs145561171;dbSNPBuildID=134,129;ANN=A|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|10/11|c.1267-76_1267-71delCGTTTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2048;p3_1000G_AF=0.408946;p3_1000G_AFR_AF=0.298;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=17805;p3_1000G_EAS_AF=0.6687;p3_1000G_EUR_AF=0.2485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47582242;p3_1000G_GRCH37_REF=ATTTCGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:51:765,51,0
chr1	47116620	rs10890465	T	G	1081.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.68;QD=33.81;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10890465;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|10/11|c.1267-30T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=2972;p3_1000G_AF=0.59345;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=17672;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.34;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47582292;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2180,2224;ESP6500_AA_AGE=534.0+/-373.9;ESP6500_AA_GTC=554,1072,576;ESP6500_CDS_SIZES=NM_178134.2:1518;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=2888,5708;ESP6500_EA_AGE=434.6+/-357.8;ESP6500_EA_GTC=477,1934,1887;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178134.2:intron;ESP6500_GL=CYP4Z1;ESP6500_GRCh38_POSITION=1:47116620;ESP6500_GTC=1031,3006,2463;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_178134.2:c.1267-30T>G;ESP6500_MAF=33.597,49.5005,38.9846;ESP6500_TAC=5068,7932	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1110,96,0
chr1	47117649	rs36121108;rs397863037;rs529211847	G	GA	49.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.42;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs36121108;dbSNPBuildID=142,130,138;ANN=GA|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|11/11|c.1350-108dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=aa?aaaaaaa|AAAAAAAAA|AAAAAAAAAA|complex_deletion;p3_1000G_AC=1813;p3_1000G_AF=0.362021;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=21760;p3_1000G_EAS_AF=0.6478;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47583321;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:86,9,0
chr1	47117743	rs6664496	G	T	236.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6664496;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CYP4Z1|CYP4Z1|transcript|NM_178134.2|protein_coding|11/11|c.1350-23G>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=2972;p3_1000G_AF=0.59345;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=17607;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.34;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47583415;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2177,2229;ESP6500_AA_AGE=579.6+/-385.0;ESP6500_AA_GTC=555,1067,581;ESP6500_CDS_SIZES=NM_178134.2:1518;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=46;ESP6500_EA_AC=2885,5715;ESP6500_EA_AGE=659.1+/-401.6;ESP6500_EA_GTC=477,1931,1892;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178134.2:intron;ESP6500_GL=CYP4Z1;ESP6500_GRCh38_POSITION=1:47117743;ESP6500_GTC=1032,2998,2473;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_178134.2:c.1350-23G>T;ESP6500_MAF=33.5465,49.4099,38.9205;ESP6500_TAC=5062,7944	GT:AD:DP:GQ:PL	1/1:0,7:7:21:265,21,0
chr1	47141609	rs12564525	C	T	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.656;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.764;MLEAC=1;MLEAF=0.5;MQ=59.87;MQRankSum=0.984;QD=10.38;ReadPosRankSum=-2.242;SOR=0.347;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12564525;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|3/12|c.376C>T|p.Arg126Trp|437/1678|376/1560|126/519||,T|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|3/9|c.376C>T|p.Arg126Trp|437/2459|376/1074|126/357||;p3_1000G_AA=c|||;p3_1000G_AC=1859;p3_1000G_AF=0.371206;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=23221;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.2058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47607281;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1099,3307;ESP6500_AA_AGE=720.2+/-409.0;ESP6500_AA_GTC=129,841,1233;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=1.7;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=125;ESP6500_EA_AC=1802,6798;ESP6500_EA_AGE=732.5+/-406.8;ESP6500_EA_GTC=197,1408,2695;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001010969.2:missense;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47141609;ESP6500_GS=101;ESP6500_GTC=326,2249,3928;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.376C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001010969.2:p.(R126W);ESP6500_MAF=20.9535,24.9433,22.3051;ESP6500_PH=benign:0.0;ESP6500_TAC=2901,10105	GT:AD:DP:GQ:PL	0/1:30,27:57:99:620,0,759
chr1	47141969	rs11211465	C	T	888.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.631;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=4.538;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=1.17;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11211465;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|3/11|c.383-139C>T||||||,T|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|3/8|c.383-139C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1684;p3_1000G_AF=0.336262;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=24671;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47607641;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:35,31:66:99:917,0,1043
chr1	47142090	rs2056901	T	C	2036.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.35;ClippingRankSum=0;DP=158;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.85;MQRankSum=0;QD=12.97;ReadPosRankSum=0.087;SOR=0.711;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2056901;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|3/11|c.383-18T>C||||||,C|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|3/8|c.383-18T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1728;p3_1000G_AF=0.345048;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=23262;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.2038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47607762;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1055,3351;ESP6500_AA_GTC=118,819,1266;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=79;ESP6500_EA_AC=1793,6807;ESP6500_EA_GTC=193,1407,2700;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:intron;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47142090;ESP6500_GTC=311,2226,3966;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.383-18T>C;ESP6500_MAF=20.8488,23.9446,21.8976;ESP6500_TAC=2848,10158	GT:AD:DP:GQ:PL	0/1:85,72:157:99:2065,0,2186
chr1	47142113	rs2056900	G	A	2195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.027;ClippingRankSum=0;DP=175;ExcessHet=3.0103;FS=0.558;MLEAC=1;MLEAF=0.5;MQ=58.42;MQRankSum=-0.518;QD=12.62;ReadPosRankSum=-0.726;SOR=0.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2056900;dbSNPBuildID=94;ANN=A|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|4/12|c.388G>A|p.Gly130Ser|449/1678|388/1560|130/519||,A|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|4/9|c.388G>A|p.Gly130Ser|449/2459|388/1074|130/357||;p3_1000G_AA=G|||;p3_1000G_AC=1684;p3_1000G_AF=0.336262;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=22904;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47607785;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1005,3401;ESP6500_AA_AGE=374.2+/-321.1;ESP6500_AA_GTC=104,797,1302;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=0.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=89;ESP6500_EA_AC=1733,6867;ESP6500_EA_AGE=316.6+/-312.8;ESP6500_EA_GTC=183,1367,2750;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001010969.2:missense;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47142113;ESP6500_GS=56;ESP6500_GTC=287,2164,4052;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.388G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001010969.2:p.(G130S);ESP6500_MAF=20.1512,22.8098,21.0518;ESP6500_PH=probably-damaging:0.997;ESP6500_TAC=2738,10268	GT:AD:DP:GQ:PL	0/1:88,86:174:99:2224,0,2210
chr1	47142179	rs2056899	A	T	5990.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=189;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.83;QD=31.87;SOR=0.953;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2056899;dbSNPBuildID=94;ANN=T|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|4/12|c.454A>T|p.Asn152Tyr|515/1678|454/1560|152/519||,T|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|4/9|c.454A>T|p.Asn152Tyr|515/2459|454/1074|152/357||;p3_1000G_AA=T|||;p3_1000G_AC=3660;p3_1000G_AF=0.730831;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=20966;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.4036;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47607851;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3737,669;ESP6500_AA_AGE=282.8+/-276.7;ESP6500_AA_GTC=1591,555,57;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=104;ESP6500_EA_AC=3324,5276;ESP6500_EA_AGE=644.4+/-400.0;ESP6500_EA_GTC=634,2056,1610;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:missense;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47142179;ESP6500_GS=143;ESP6500_GTC=2225,2611,1667;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.454A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001010969.2:p.(N152Y);ESP6500_MAF=38.6512,15.1838,45.7097;ESP6500_PH=benign:0.0;ESP6500_TAC=7061,5945	GT:AD:DP:GQ:PL	1/1:0,188:188:99:6019,565,0
chr1	47143311	rs4926581;rs113777592	G	T	1115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.04;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=1.745;MLEAC=1;MLEAF=0.5;MQ=42.96;MQRankSum=-1.603;QD=12.68;ReadPosRankSum=1.18;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113777592;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|5/12|c.553G>T|p.Val185Phe|614/1678|553/1560|185/519||,T|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|5/9|c.553G>T|p.Val185Phe|614/2459|553/1074|185/357||;p3_1000G_AA=G|||;p3_1000G_AC=1681;p3_1000G_AF=0.335663;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs113777592;p3_1000G_DP=19651;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47608983;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1006,3400;ESP6500_AA_AGE=372.0+/-320.2;ESP6500_AA_GTC=107,792,1304;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=66;ESP6500_EA_AC=1731,6865;ESP6500_EA_AGE=315.9+/-312.5;ESP6500_EA_GTC=184,1363,2751;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:missense;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47143311;ESP6500_GS=50;ESP6500_GTC=291,2155,4055;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.553G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001010969.2:p.(V185F);ESP6500_MAF=20.1373,22.8325,21.0506;ESP6500_PH=possibly-damaging:0.872;ESP6500_TAC=2737,10265	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1144,0,1084
chr1	47143419	rs34753269;rs146396590	G	A	792.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.03;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=3.797;MLEAC=1;MLEAF=0.5;MQ=42.77;MQRankSum=-1.627;QD=13.67;ReadPosRankSum=0.948;SOR=0.349;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146396590;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|5/11|c.635+26G>A||||||,A|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|5/8|c.635+26G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=902;p3_1000G_AF=0.180112;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=20145;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47609091;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=562,3836;ESP6500_AA_GTC=44,474,1681;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=31;ESP6500_EA_AC=949,7639;ESP6500_EA_GTC=54,841,3399;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:intron;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47143419;ESP6500_GTC=98,1315,5080;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.635+26G>A;ESP6500_MAF=11.0503,12.7785,11.6356;ESP6500_TAC=1511,11475	GT:AD:DP:GQ:PL	0/1:26,32:58:99:821,0,796
chr1	47143735	rs10890469	C	T	961.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.524;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.02;MQRankSum=-0.74;QD=15.03;ReadPosRankSum=-1.623;SOR=0.664;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10890469;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|5/11|c.636-27C>T||||||,T|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|5/8|c.635+342C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=978;p3_1000G_AF=0.195288;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.1153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47609407;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2648;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=908,3498;ESP6500_AA_AGE=349.8+/-310.5;ESP6500_AA_GTC=86,736,1381;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=978,7622;ESP6500_EA_AGE=213.1+/-253.2;ESP6500_EA_GTC=56,866,3378;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:intron;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47143735;ESP6500_GTC=142,1602,4759;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.636-27C>T;ESP6500_MAF=11.3721,20.6083,14.501;ESP6500_TAC=1886,11120	GT:AD:DP:GQ:PL	0/1:25,39:64:99:990,0,667
chr1	47143817	rs10789501	T	C	2082.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=0.754;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10789501;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|6/12|c.691T>C|p.Cys231Arg|752/1678|691/1560|231/519||,C|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|5/8|c.635+424T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2908;p3_1000G_AF=0.580671;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=20346;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.3489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47609489;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6452;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2187,2219;ESP6500_AA_GTC=554,1079,570;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=129;ESP6500_EA_AC=2907,5693;ESP6500_EA_GTC=483,1941,1876;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001010969.2:missense;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47143817;ESP6500_GS=180;ESP6500_GTC=1037,3020,2446;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.691T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001010969.2:p.(C231R);ESP6500_MAF=33.8023,49.6369,39.1665;ESP6500_PH=benign:0.0;ESP6500_TAC=5094,7912	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2111,198,0
chr1	47143996	rs911909	T	C	1186.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs911909;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|6/11|c.790+80T>C||||||,C|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|5/8|c.636-361T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2903;p3_1000G_AF=0.579673;p3_1000G_AFR_AF=0.4977;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=19736;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.3489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47609668;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1215,96,0
chr1	47144272	rs12734074	C	A	373.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.423;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=3.157;MLEAC=1;MLEAF=0.5;MQ=35.14;MQRankSum=-0.475;QD=8.31;ReadPosRankSum=-0.101;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200578397;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|6/11|c.791-85C>A||||||,A|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|5/8|c.636-85C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=955;p3_1000G_AF=0.190695;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200578397;p3_1000G_DP=21518;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47609944;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,16:45:99:402,0,908
chr1	47144621	rs968322	C	T	1495.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.098;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.12;MQRankSum=-0.473;QD=12.16;ReadPosRankSum=1.61;SOR=0.684;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs968322;dbSNPBuildID=94;ANN=T|synonymous_variant|LOW|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|8/12|c.969C>T|p.His323His|1030/1678|969/1560|323/519||,T|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|6/8|c.742+158C>T||||||	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1524,0,1821
chr1	47144764	rs147000658	G	C	977.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.085;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=1.864;MLEAC=1;MLEAF=0.5;MQ=51.49;MQRankSum=-0.216;QD=11.64;ReadPosRankSum=-1.114;SOR=0.998;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147000658;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|8/11|c.1088+24G>C||||||,C|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|6/8|c.743-21G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=931;p3_1000G_AF=0.185903;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=22007;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.1153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47610436;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=761,3645;ESP6500_AA_GTC=57,647,1499;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=22;ESP6500_EA_AC=958,7628;ESP6500_EA_GTC=50,858,3385;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:intron;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47144764;ESP6500_GTC=107,1505,4884;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.1088+24G>C;ESP6500_MAF=11.1577,17.2719,13.2312;ESP6500_TAC=1719,11273	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1006,0,1221
chr1	47144918	rs2405593	A	C	751.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=3.06;MLEAC=1;MLEAF=0.5;MQ=53.09;MQRankSum=-1.183;QD=9.89;ReadPosRankSum=-1.284;SOR=0.894;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2405593;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|9/12|c.1170A>C|p.Gly390Gly|1231/1678|1170/1560|390/519||,C|synonymous_variant|LOW|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|7/9|c.876A>C|p.Gly292Gly|937/2459|876/1074|292/357||;p3_1000G_AA=a|||;p3_1000G_AC=507;p3_1000G_AF=0.101238;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=20869;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.0467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47610590;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1462;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=56,4350;ESP6500_AA_GTC=0,56,2147;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=0.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=113;ESP6500_EA_AC=294,8306;ESP6500_EA_GTC=17,260,4023;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:coding-synonymous;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47144918;ESP6500_GTC=17,316,6170;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.1170A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001010969.2:p.(G390);ESP6500_MAF=3.4186,1.271,2.6911;ESP6500_TAC=350,12656	GT:AD:DP:GQ:PL	0/1:44,32:76:99:780,0,1090
chr1	47145926	rs2405599	T	C	898.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.978;MLEAC=1;MLEAF=0.5;MQ=58.91;MQRankSum=-2.645;QD=14.04;ReadPosRankSum=0.7;SOR=0.497;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2405599;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|10/12|c.1283T>C|p.Leu428Pro|1344/1678|1283/1560|428/519||,C|missense_variant|MODERATE|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding|8/9|c.989T>C|p.Leu330Pro|1050/2459|989/1074|330/357||;p3_1000G_AA=C|||;p3_1000G_AC=1882;p3_1000G_AF=0.375799;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=21691;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47611598;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1117,3289;ESP6500_AA_GTC=132,853,1218;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=0.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=286;ESP6500_EA_AC=1931,6669;ESP6500_EA_GTC=221,1489,2590;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:missense;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47145926;ESP6500_GS=98;ESP6500_GTC=353,2342,3808;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.1283T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001010969.2:p.(L428P);ESP6500_MAF=22.4535,25.3518,23.4353;ESP6500_PH=benign:0.001;ESP6500_TAC=3048,9958	GT:AD:DP:GQ:PL	0/1:33,31:64:99:927,0,899
chr1	47148513	rs760440	G	C	2218.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.68;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.84;MQRankSum=2.36;QD=34.67;ReadPosRankSum=-0.649;SOR=1.096;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs760440;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding||c.*2356G>C|||||1032|,C|intron_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|11/11|c.1365-89G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2919;p3_1000G_AF=0.582867;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=18817;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.3519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47614185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,63:64:99:2247,150,0
chr1	47148813	rs72684327	A	G	981.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=2.755;MLEAC=1;MLEAF=0.5;MQ=58.53;MQRankSum=-2.722;QD=9.53;ReadPosRankSum=0.744;SOR=0.443;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72684327;dbSNPBuildID=130;ANN=G|3_prime_UTR_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001010969.3|protein_coding|12/12|c.*16A>G|||||16|,G|downstream_gene_variant|MODIFIER|CYP4A22|CYP4A22|transcript|NM_001308102.1|protein_coding||c.*2656A>G|||||1332|;p3_1000G_AA=A|||;p3_1000G_AC=1059;p3_1000G_AF=0.211462;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=18352;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.1541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47614485;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1040,3366;ESP6500_AA_AGE=380.6+/-323.8;ESP6500_AA_GTC=131,778,1294;ESP6500_CDS_SIZES=NM_001010969.2:1560;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=58;ESP6500_EA_AC=1159,7441;ESP6500_EA_AGE=233.9+/-267.0;ESP6500_EA_GTC=75,1009,3216;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010969.2:utr-3;ESP6500_GL=CYP4A22;ESP6500_GRCh38_POSITION=1:47148813;ESP6500_GTC=206,1787,4510;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001010969.2:c.*16A>G;ESP6500_MAF=13.4767,23.6042,16.9076;ESP6500_TAC=2199,10807	GT:AD:DP:GQ:PL	0/1:62,41:103:99:1010,0,1580
chr1	47187200	rs12567025	T	C	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.217;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.864;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12567025;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PDZK1IP1|PDZK1IP1|transcript|NM_005764.3|protein_coding|2/3|c.176+119A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1107;p3_1000G_AF=0.221046;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=18342;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.2187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47652872;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:239,0,310
chr1	47281006	rs10789505;160051	G	C	3105.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=210;ExcessHet=3.0103;FS=3.986;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.044;SOR=0.975;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10789505;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|STIL|STIL|transcript|NM_001048166.1|protein_coding|12/17|c.1452C>G|p.Ser484Ser|1607/5019|1452/3867|484/1288||,C|synonymous_variant|LOW|STIL|STIL|transcript|NM_001282936.1|protein_coding|13/18|c.1452C>G|p.Ser484Ser|1816/5225|1452/3864|484/1287||,C|synonymous_variant|LOW|STIL|STIL|transcript|NM_001282937.1|protein_coding|13/18|c.1452C>G|p.Ser484Ser|1816/5174|1452/3813|484/1270||,C|synonymous_variant|LOW|STIL|STIL|transcript|NM_001282938.1|protein_coding|14/19|c.1311C>G|p.Ser437Ser|1675/5087|1311/3726|437/1241||,C|synonymous_variant|LOW|STIL|STIL|transcript|NM_001282939.1|protein_coding|14/19|c.1311C>G|p.Ser437Ser|1540/4898|1311/3672|437/1223||,C|synonymous_variant|LOW|STIL|STIL|transcript|NM_003035.2|protein_coding|12/17|c.1452C>G|p.Ser484Ser|1607/5016|1452/3864|484/1287||;p3_1000G_AA=G|||;p3_1000G_AC=1162;p3_1000G_AF=0.232029;p3_1000G_AFR_AF=0.3911;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=17252;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.0905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47746678;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1488,2918;ESP6500_AA_AGE=477.4+/-357.9;ESP6500_AA_GTC=243,1002,958;ESP6500_CDS_SIZES=NM_003035.2:3864,NM_001048166.1:3867;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=120;ESP6500_EA_AC=658,7942;ESP6500_EA_AGE=167.5+/-219.3;ESP6500_EA_GTC=21,616,3663;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003035.2:coding-synonymous,NM_001048166.1:coding-synonymous;ESP6500_GL=STIL;ESP6500_GRCh38_POSITION=1:47281006;ESP6500_GTC=264,1618,4621;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_003035.2:c.1452C>G,NM_001048166.1:c.1452C>G;ESP6500_HGVS_PROTEIN_VAR=NM_003035.2:p.(S484),NM_001048166.1:p.(S484);ESP6500_MAF=7.6512,33.7721,16.5001;ESP6500_TAC=2146,10860;CLINVAR_AF_ESP=0.1650;CLINVAR_AF_EXAC=0.12686;CLINVAR_AF_TGP=0.2320;CLINVAR_ALLELEID=168011;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.47281006G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1406;CLINVAR_GENEINFO=STIL:6491;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10789505	GT:AD:DP:GQ:PL	0/1:89,119:208:99:3134,0,2357
chr1	47299818	rs9436838	T	C	402.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9436838;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001048166.1|protein_coding|6/16|c.701+87A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282936.1|protein_coding|7/17|c.701+87A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282937.1|protein_coding|7/17|c.701+87A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282938.1|protein_coding|8/18|c.560+87A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282939.1|protein_coding|8/18|c.560+87A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_003035.2|protein_coding|6/16|c.701+87A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3073;p3_1000G_AF=0.613618;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=21575;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.4612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47765490;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4448;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:431,36,0
chr1	47302242	rs3125630;21354	G	A	1089.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3125630;dbSNPBuildID=103;ANN=A|missense_variant|MODERATE|STIL|STIL|transcript|NM_001048166.1|protein_coding|4/17|c.257C>T|p.Ala86Val|412/5019|257/3867|86/1288||,A|missense_variant|MODERATE|STIL|STIL|transcript|NM_001282936.1|protein_coding|5/18|c.257C>T|p.Ala86Val|621/5225|257/3864|86/1287||,A|missense_variant|MODERATE|STIL|STIL|transcript|NM_001282937.1|protein_coding|5/18|c.257C>T|p.Ala86Val|621/5174|257/3813|86/1270||,A|missense_variant|MODERATE|STIL|STIL|transcript|NM_001282938.1|protein_coding|5/19|c.257C>T|p.Ala86Val|621/5087|257/3726|86/1241||,A|missense_variant|MODERATE|STIL|STIL|transcript|NM_001282939.1|protein_coding|5/19|c.257C>T|p.Ala86Val|486/4898|257/3672|86/1223||,A|missense_variant|MODERATE|STIL|STIL|transcript|NM_003035.2|protein_coding|4/17|c.257C>T|p.Ala86Val|412/5016|257/3864|86/1287||;p3_1000G_AA=A|||;p3_1000G_AC=3037;p3_1000G_AF=0.60643;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=18335;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47767914;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3612,794;ESP6500_AA_AGE=316.6+/-294.7;ESP6500_AA_GTC=1481,650,72;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...6491&amp%3Brs...3125630;ESP6500_CDS_SIZES=NM_003035.2:3864,NM_001048166.1:3867;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=101;ESP6500_EA_AC=4102,4498;ESP6500_EA_AGE=591.2+/-392.8;ESP6500_EA_GTC=975,2152,1173;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003035.2:missense,NM_001048166.1:missense;ESP6500_GL=STIL;ESP6500_GRCh38_POSITION=1:47302242;ESP6500_GS=64,64;ESP6500_GTC=2456,2802,1245;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003035.2:c.257C>T,NM_001048166.1:c.257C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003035.2:p.(A86V),NM_001048166.1:p.(A86V);ESP6500_MAF=47.6977,18.0209,40.6889;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7714,5292;CLINVAR_ALLELEID=34206;CLINVAR_CLNDISDB=MedGen:C2675187,OMIM:612703|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_7|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.47302242G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1416|UniProtKB_(protein):Q15468#VAR_029870;CLINVAR_GENEINFO=STIL:6491;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3125630	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1118,111,0
chr1	47304769	rs3122615	A	C	143.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3122615;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001048166.1|protein_coding|3/16|c.152+120T>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282936.1|protein_coding|4/17|c.152+120T>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282937.1|protein_coding|4/17|c.152+120T>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282938.1|protein_coding|4/18|c.152+120T>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282939.1|protein_coding|4/18|c.152+120T>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_003035.2|protein_coding|3/16|c.152+120T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3038;p3_1000G_AF=0.606629;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=17731;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47770441;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:171,12,0
chr1	47304794	rs3122616	T	C	281.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.18;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3122616;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001048166.1|protein_coding|3/16|c.152+95A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282936.1|protein_coding|4/17|c.152+95A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282937.1|protein_coding|4/17|c.152+95A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282938.1|protein_coding|4/18|c.152+95A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_001282939.1|protein_coding|4/18|c.152+95A>G||||||,C|intron_variant|MODIFIER|STIL|STIL|transcript|NM_003035.2|protein_coding|3/16|c.152+95A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1588;p3_1000G_AF=0.317093;p3_1000G_AFR_AF=0.2988;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=17732;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47770466;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:310,30,0
chr1	47333967	rs7543016	G	C	362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.23;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7543016;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|CMPK1|CMPK1|transcript|NM_016308.2|protein_coding|1/6|c.22G>C|p.Gly8Arg|171/2930|22/687|8/228||,C|missense_variant|MODERATE|CMPK1|CMPK1|transcript|NM_001136140.1|protein_coding|1/5|c.22G>C|p.Gly8Arg|171/2783|22/540|8/179||,C|non_coding_transcript_exon_variant|MODIFIER|CMPK1|CMPK1|transcript|NR_046395.1|pseudogene|1/2|n.171G>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|CMPK1|CMPK1|transcript|NR_046394.1|pseudogene|1/5|n.171G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2987;p3_1000G_AF=0.596446;p3_1000G_AFR_AF=0.8245;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=6280;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.4602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47799639;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3307,1031;ESP6500_AA_GTC=1310,687,172;ESP6500_CDS_SIZES=NM_016308.2:687,NM_001136140.1:540;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=9;ESP6500_EA_AC=4001,4503;ESP6500_EA_GTC=1027,1947,1278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016308.2:missense,NM_001136140.1:missense;ESP6500_GL=CMPK1;ESP6500_GRCh38_POSITION=1:47333967;ESP6500_GS=125,125;ESP6500_GTC=2337,2634,1450;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_016308.2:c.22G>C,NM_001136140.1:c.22G>C;ESP6500_HGVS_PROTEIN_VAR=NM_016308.2:p.(G8R),NM_001136140.1:p.(G8R);ESP6500_MAF=47.0484,23.7667,43.093;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7308,5534	GT:AD:DP:GQ:PL	1/1:0,12:12:36:391,36,0
chr1	47375432	rs2306470	C	T	277.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.69;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2306470;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CMPK1|CMPK1|transcript|NM_016308.2|protein_coding|5/5|c.645+139C>T||||||,T|intron_variant|MODIFIER|CMPK1|CMPK1|transcript|NM_001136140.1|protein_coding|4/4|c.498+139C>T||||||,T|intron_variant|MODIFIER|CMPK1|CMPK1|transcript|NR_046394.1|pseudogene|4/4|n.717+139C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1331;p3_1000G_AF=0.265775;p3_1000G_AFR_AF=0.1172;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=16488;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47841104;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:47375432_C_T:306,21,0
chr1	47375437	rs2253511	T	C	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2253511;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CMPK1|CMPK1|transcript|NM_016308.2|protein_coding|5/5|c.645+144T>C||||||,C|intron_variant|MODIFIER|CMPK1|CMPK1|transcript|NM_001136140.1|protein_coding|4/4|c.498+144T>C||||||,C|intron_variant|MODIFIER|CMPK1|CMPK1|transcript|NR_046394.1|pseudogene|4/4|n.717+144T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4739;p3_1000G_AF=0.946286;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=16419;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47841109;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:47375432_C_T:270,18,0
chr1	47376759	rs3125648	G	A	692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3125648;dbSNPBuildID=103;ANN=A|3_prime_UTR_variant|MODIFIER|CMPK1|CMPK1|transcript|NM_016308.2|protein_coding|6/6|c.*14G>A|||||14|,A|3_prime_UTR_variant|MODIFIER|CMPK1|CMPK1|transcript|NM_001136140.1|protein_coding|5/5|c.*14G>A|||||14|,A|downstream_gene_variant|MODIFIER|LINC01389|LINC01389|transcript|NR_126355.1|pseudogene||n.*4037C>T|||||4037|,A|non_coding_transcript_exon_variant|MODIFIER|CMPK1|CMPK1|transcript|NR_046394.1|pseudogene|5/5|n.773G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4776;p3_1000G_AF=0.953674;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=16677;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47842431;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3736,670;ESP6500_AA_AGE=281.4+/-275.9;ESP6500_AA_GTC=1579,578,46;ESP6500_CDS_SIZES=NM_016308.2:687,NM_001136140.1:540;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=71;ESP6500_EA_AC=8581,15;ESP6500_EA_AGE=9.8+/-36.6;ESP6500_EA_GTC=4283,15,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016308.2:utr-3,NM_001136140.1:utr-3;ESP6500_GL=CMPK1;ESP6500_GRCh38_POSITION=1:47376759;ESP6500_GTC=5862,593,46;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016308.2:c.*14G>A,NM_001136140.1:c.*14G>A;ESP6500_MAF=0.1745,15.2065,5.2684;ESP6500_TAC=12317,685	GT:AD:DP:GQ:PL	1/1:0,24:24:72:721,72,0
chr1	47416825	rs34082359;193357	C	T	496.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.062;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=-1.184;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34082359;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|FOXE3|FOXE3|transcript|NM_012186.2|protein_coding|1/1|c.510C>T|p.Ala170Ala|754/1981|510/960|170/319||,T|intron_variant|MODIFIER|LINC01389|LINC01389|transcript|NR_126355.1|pseudogene|1/4|n.29-6924G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1395;p3_1000G_AF=0.278554;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=4975;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.3569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47882497;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA_AC=1084,3226;ESP6500_AA_GTC=172,740,1243;ESP6500_CDS_SIZES=NM_012186.2:960;ESP6500_CG=-3.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=9;ESP6500_EA_AC=2914,5542;ESP6500_EA_GTC=546,1822,1860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012186.2:coding-synonymous;ESP6500_GL=FOXE3;ESP6500_GRCh38_POSITION=1:47416825;ESP6500_GTC=718,2562,3103;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012186.2:c.510C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012186.2:p.(A170);ESP6500_MAF=34.4607,25.1508,31.3176;ESP6500_TAC=3998,8768;CLINVAR_AF_ESP=0.3132;CLINVAR_AF_EXAC=0.35095;CLINVAR_AF_TGP=0.2786;CLINVAR_ALLELEID=190521;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.47416825C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=FOXE3:2301|LINC01389:102724077;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34082359	GT:AD:DP:GQ:PL	0/1:10,17:27:99:525,0,259
chr1	47417352	rs2820969	A	G	107.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.58;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2820969;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|FOXE3|FOXE3|transcript|NM_012186.2|protein_coding|1/1|c.*77A>G|||||77|,G|intron_variant|MODIFIER|LINC01389|LINC01389|transcript|NR_126355.1|pseudogene|1/4|n.29-7451T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4982;p3_1000G_AF=0.994808;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=10102;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47883024;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:136,15,0
chr1	47438328	rs78469326	G	A	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.411;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.828;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78469326;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|FOXD2|FOXD2|transcript|NM_004474.3|protein_coding|1/1|c.193G>A|p.Ala65Thr|2312/4675|193/1488|65/495||,A|upstream_gene_variant|MODIFIER|LINC01389|LINC01389|transcript|NR_126355.1|pseudogene||n.-1011C>T|||||1011|,A|upstream_gene_variant|MODIFIER|FOXD2-AS1|FOXD2-AS1|transcript|NR_026878.1|pseudogene||n.-3687C>T|||||3687|;p3_1000G_AA=G|||;p3_1000G_AC=621;p3_1000G_AF=0.124002;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=5401;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.0755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47904000;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,12:22:99:253,0,250
chr1	47438996	rs3046924;rs71053113	T	TCCGCAC	1224.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=0.922;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs71053113,rs3046924;dbSNPBuildID=102,130;ANN=TCCGCAC|conservative_inframe_insertion|MODERATE|FOXD2|FOXD2|transcript|NM_004474.3|protein_coding|1/1|c.874_879dupCCGCAC|p.Pro292_His293dup|2999/4675|880/1488|294/495||INFO_REALIGN_3_PRIME,TCCGCAC|upstream_gene_variant|MODIFIER|LINC01389|LINC01389|transcript|NR_126355.1|pseudogene||n.-1685_-1680dupGTGCGG|||||1680|,TCCGCAC|upstream_gene_variant|MODIFIER|FOXD2-AS1|FOXD2-AS1|transcript|NR_026878.1|pseudogene||n.-4361_-4356dupGTGCGG|||||4356|;p3_1000G_AC=4830;p3_1000G_AF=0.964457;p3_1000G_AFR_AF=0.9107;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=7050;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47904668;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=INDEL;ESP6500_AA_AC=161,17;ESP6500_AA_GTC=80,1,8;ESP6500_CDS_SIZES=NM_004474.3:1488;ESP6500_CG=-2.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=1;ESP6500_EA_AC=364,38;ESP6500_EA_GTC=182,0,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004474.3:coding;ESP6500_GL=FOXD2;ESP6500_GRCh38_POSITION=1:47438996;ESP6500_GTC=262,1,27;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004474.3:c.861_862insCCGCAC;ESP6500_HGVS_PROTEIN_VAR=NM_004474.3:p.(H287_P288insPH);ESP6500_MAF=9.4527,9.5506,9.4828;ESP6500_TAC=525,55	GT:AD:DP:GQ:PL	1/1:0,27:27:87:1262,87,0
chr1	47439237	rs2405913	G	C	533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2405913;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|FOXD2|FOXD2|transcript|NM_004474.3|protein_coding|1/1|c.1102G>C|p.Ala368Pro|3221/4675|1102/1488|368/495||,C|upstream_gene_variant|MODIFIER|LINC01389|LINC01389|transcript|NR_126355.1|pseudogene||n.-1920C>G|||||1920|,C|upstream_gene_variant|MODIFIER|FOXD2-AS1|FOXD2-AS1|transcript|NR_026878.1|pseudogene||n.-4596C>G|||||4596|;p3_1000G_AA=C|||;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=8227;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47904909;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:562,48,0
chr1	47794790	rs779710887	GTT	G	28.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.253;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.524;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|TRABD2B|TRABD2B|transcript|NM_001194986.1|protein_coding|3/6|c.814-32_814-31delAA||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:35:66,0,35
chr1	47801395	rs149645699	GAGA	G	355.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.933;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=1.31;SOR=0.818;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs149645699;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|TRABD2B|TRABD2B|transcript|NM_001194986.1|protein_coding|3/6|c.813+75_813+77delTCT||||||;p3_1000G_AC=122;p3_1000G_AF=0.024361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22409;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48267067;p3_1000G_GRCH37_REF=GAGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,10:19:99:393,0,415
chr1	48224557	rs10788884	C	A	606.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10788884;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SLC5A9|SLC5A9|transcript|NM_001135181.1|protein_coding|1/14|c.163-167C>A||||||,A|intron_variant|MODIFIER|SLC5A9|SLC5A9|transcript|NM_001011547.2|protein_coding|1/13|c.163-167C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3162;p3_1000G_AF=0.63139;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=18443;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48690229;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:635,54,0
chr1	48232061	rs212991	T	G	1336.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs212991;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|SLC5A9|SLC5A9|transcript|NM_001135181.1|protein_coding|8/15|c.882T>G|p.Ile294Met|934/3274|882/2121|294/706||,G|missense_variant|MODERATE|SLC5A9|SLC5A9|transcript|NM_001011547.2|protein_coding|7/14|c.807T>G|p.Ile269Met|859/3199|807/2046|269/681||;p3_1000G_AA=G|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20749;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48697733;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4406,0;ESP6500_AA_GTC=2203,0,0;ESP6500_CDS_SIZES=NM_001135181.1:2121,NM_001011547.2:2046;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=104;ESP6500_EA_AC=8588,12;ESP6500_EA_AGE=7.7+/-29.5;ESP6500_EA_GTC=4288,12,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001135181.1:missense,NM_001011547.2:missense;ESP6500_GL=SLC5A9;ESP6500_GRCh38_POSITION=1:48232061;ESP6500_GS=10,10;ESP6500_GTC=6491,12,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001135181.1:c.882T>G,NM_001011547.2:c.807T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001135181.1:p.(I294M),NM_001011547.2:p.(I269M);ESP6500_MAF=0.1395,0.0,0.0923;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=12994,12	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1365,126,0
chr1	48242166	rs705430	A	G	468.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.23;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs705430;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SLC5A9|SLC5A9|transcript|NM_001135181.1|protein_coding|13/14|c.1753-291A>G||||||,G|intron_variant|MODIFIER|SLC5A9|SLC5A9|transcript|NM_001011547.2|protein_coding|12/13|c.1678-291A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48707838;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9376;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:497,39,0
chr1	48298747	rs1056042	C	T	1209.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1056042;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|SPATA6|SPATA6|transcript|NM_019073.3|protein_coding|13/13|c.1433G>A|p.Cys478Tyr|1633/5008|1433/1467|478/488||,T|missense_variant|MODERATE|SPATA6|SPATA6|transcript|NM_001286238.1|protein_coding|13/13|c.1385G>A|p.Cys462Tyr|1585/4960|1385/1419|462/472||,T|missense_variant|MODERATE|SPATA6|SPATA6|transcript|NM_001286239.1|protein_coding|12/12|c.1391G>A|p.Cys464Tyr|1591/4966|1391/1425|464/474||;p3_1000G_AA=C|||;p3_1000G_AC=1372;p3_1000G_AF=0.273962;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=16906;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48764419;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=392,4014;ESP6500_AA_AGE=195.0+/-219.7;ESP6500_AA_GTC=15,362,1826;ESP6500_CDS_SIZES=NM_019073.2:1467;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=160;ESP6500_EA_AC=3624,4976;ESP6500_EA_AGE=522.3+/-380.1;ESP6500_EA_GTC=755,2114,1431;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019073.2:missense;ESP6500_GL=SPATA6;ESP6500_GRCh38_POSITION=1:48298747;ESP6500_GS=194;ESP6500_GTC=770,2476,3257;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019073.2:c.1433G>A;ESP6500_HGVS_PROTEIN_VAR=NM_019073.2:p.(C478Y);ESP6500_MAF=42.1395,8.897,30.8781;ESP6500_PH=probably-damaging:0.997;ESP6500_TAC=4016,8990	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1238,126,0
chr1	48436880	rs1890321	G	A	2093.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.21;QD=33.77;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78784453;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_019073.3|protein_coding|3/12|c.238+14672C>T||||||,A|intron_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_001286238.1|protein_coding|3/12|c.238+14672C>T||||||,A|intron_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_001286239.1|protein_coding|3/11|c.238+14672C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=1365;p3_1000G_AF=0.272564;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs78784453;p3_1000G_DP=19667;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.4235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48902552;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2122,186,0
chr1	48437305	rs2261674	G	C	551.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.87;QD=34.49;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2261674;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_019073.3|protein_coding|3/12|c.238+14247C>G||||||,C|intron_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_001286238.1|protein_coding|3/12|c.238+14247C>G||||||,C|intron_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_001286239.1|protein_coding|3/11|c.238+14247C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=4908;p3_1000G_AF=0.980032;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=15494;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48902977;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:580,48,0
chr1	48472019	rs2275309	A	T	223.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.86;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275309;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_019073.3|protein_coding|1/13|c.-11T>A|||||11|,T|5_prime_UTR_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_001286238.1|protein_coding|1/13|c.-11T>A|||||11|,T|5_prime_UTR_variant|MODIFIER|SPATA6|SPATA6|transcript|NM_001286239.1|protein_coding|1/12|c.-11T>A|||||11|;p3_1000G_AA=A|||;p3_1000G_AC=1369;p3_1000G_AF=0.273363;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=9264;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.4284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48937691;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=356,3938;ESP6500_AA_GTC=20,316,1811;ESP6500_CDS_SIZES=NM_019073.2:1467;ESP6500_CG=-0.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=8;ESP6500_EA_AC=3301,5099;ESP6500_EA_GTC=665,1971,1564;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019073.2:utr-5;ESP6500_GL=SPATA6;ESP6500_GRCh38_POSITION=1:48472019;ESP6500_GTC=685,2287,3375;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_019073.2:c.-11T>A;ESP6500_MAF=39.2976,8.2906,28.8089;ESP6500_TAC=3657,9037	GT:AD:DP:GQ:PL	1/1:0,9:9:27:252,27,0
chr1	48634660	rs319983	C	T	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.116;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=1.3;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs319983;dbSNPBuildID=79;ANN=T|sequence_feature|LOW|AGBL4|AGBL4|active-site:Nucleophile|NM_032785.3|protein_coding|8/13|c.840-56G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323574.1|protein_coding|8/13|c.876-56G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323573.1|protein_coding|8/12|c.876-56G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323575.1|protein_coding|8/12|c.840-56G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_032785.3|protein_coding|8/13|c.840-56G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NR_136623.1|pseudogene|8/12|n.997-56G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1983;p3_1000G_AF=0.395966;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=23006;p3_1000G_EAS_AF=0.2857;p3_1000G_EUR_AF=0.6004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49100332;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,10:30:99:291,0,620
chr1	48663048	rs320007	C	T	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.082;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.71;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs320007;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323574.1|protein_coding|7/13|c.760+104G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323573.1|protein_coding|7/12|c.760+104G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323575.1|protein_coding|7/12|c.724+104G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_032785.3|protein_coding|7/13|c.724+104G>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NR_136623.1|pseudogene|7/12|n.881+104G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2112;p3_1000G_AF=0.421725;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=21167;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.5954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49128720;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:1|0:48663034_A_G:222,0,342
chr1	48758912	rs1128934	G	T	735.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1128934;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|BEND5|BEND5|transcript|NM_024603.3|protein_coding|3/6|c.733C>A|p.Arg245Arg|871/1767|733/1266|245/421||,T|synonymous_variant|LOW|BEND5|BEND5|transcript|NM_001302082.1|protein_coding|3/6|c.226C>A|p.Arg76Arg|953/1849|226/759|76/252||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323574.1|protein_coding|6/13|c.671-95671C>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323573.1|protein_coding|6/12|c.671-95671C>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_001323575.1|protein_coding|6/12|c.635-95671C>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NM_032785.3|protein_coding|6/13|c.635-95671C>A||||||,T|intron_variant|MODIFIER|AGBL4|AGBL4|transcript|NR_136623.1|pseudogene|5/12|n.668-69009C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3455;p3_1000G_AF=0.689896;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=21433;p3_1000G_EAS_AF=0.5327;p3_1000G_EUR_AF=0.8847;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49224584;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2873,1533;ESP6500_AA_AGE=670.0+/-402.3;ESP6500_AA_GTC=940,993,270;ESP6500_CDS_SIZES=NM_032785.3:1512,NM_024603.2:1266;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=52;ESP6500_EA_AC=7611,989;ESP6500_EA_AGE=770.6+/-407.7;ESP6500_EA_GTC=3353,905,42;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032785.3:intron,NM_024603.2:coding-synonymous;ESP6500_GL=BEND5,AGBL4;ESP6500_GRCh38_POSITION=1:48758912;ESP6500_GTC=4293,1898,312;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_032785.3:c.635-95671C>A,NM_024603.2:c.733C>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_024603.2:p.(R245);ESP6500_MAF=11.5,34.7935,19.3911;ESP6500_TAC=10484,2522	GT:AD:DP:GQ:PL	1/1:0,23:23:69:764,69,0
chr1	49045752	rs3934240	A	G	1063.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.95;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3934240;dbSNPBuildID=108;ANN=G|synonymous_variant|LOW|AGBL4|AGBL4|transcript|NM_001323574.1|protein_coding|5/14|c.462T>C|p.His154His|620/3024|462/1548|154/515||,G|synonymous_variant|LOW|AGBL4|AGBL4|transcript|NM_001323573.1|protein_coding|5/13|c.462T>C|p.His154His|620/2997|462/1521|154/506||,G|synonymous_variant|LOW|AGBL4|AGBL4|transcript|NM_001323575.1|protein_coding|5/13|c.426T>C|p.His142His|584/2961|426/1485|142/494||,G|synonymous_variant|LOW|AGBL4|AGBL4|transcript|NM_032785.3|protein_coding|5/14|c.426T>C|p.His142His|584/2988|426/1512|142/503||,G|non_coding_transcript_exon_variant|MODIFIER|AGBL4|AGBL4|transcript|NR_136623.1|pseudogene|4/13|n.459T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1127;p3_1000G_AF=0.22504;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=18029;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49511424;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=103,1281;ESP6500_AA_GTC=3,97,592;ESP6500_CDS_SIZES=NM_032785.3:1512;ESP6500_CG=-0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=87;ESP6500_EA_AC=703,2479;ESP6500_EA_GTC=82,539,970;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032785.3:coding-synonymous;ESP6500_GL=AGBL4;ESP6500_GRCh38_POSITION=1:49045752;ESP6500_GTC=85,636,1562;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032785.3:c.426T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032785.3:p.(H142);ESP6500_MAF=22.093,7.4422,17.6522;ESP6500_TAC=806,3760	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1092,90,0
chr1	50106424	rs12138061	C	A	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.755;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=12.155;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=1.03;SOR=0.026;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12138061;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324216.1|protein_coding||c.-2766C>A|||||2496|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144774.2|protein_coding||c.-2766C>A|||||2496|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324209.1|protein_coding||c.-35429C>A|||||2496|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324212.1|protein_coding||c.-35429C>A|||||2496|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_021952.4|protein_coding||c.-2766C>A|||||2496|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324217.1|protein_coding||c.-3517C>A|||||3192|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NR_136725.1|pseudogene||n.-3192C>A|||||3192|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001294348.1|protein_coding||c.-3517C>A|||||3192|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324213.1|protein_coding||c.-3517C>A|||||3192|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324214.1|protein_coding||c.-35429C>A|||||3192|,A|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324215.1|protein_coding||c.-3517C>A|||||3192|,A|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144775.2|protein_coding|1/6|c.117+31C>A||||||,A|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144777.2|protein_coding|1/6|c.19-38533C>A||||||,A|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324208.1|protein_coding|1/6|c.19-38533C>A||||||,A|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144776.2|protein_coding|1/6|c.9+2424C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1063;p3_1000G_AF=0.21226;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=19325;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50572096;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=221,2915;ESP6500_AA_GTC=6,209,1353;ESP6500_CDS_SIZES=NM_001144777.1:1110,NM_001144776.1:1101,NM_001144775.1:1152;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=44;ESP6500_EA_AC=1614,5550;ESP6500_EA_GTC=191,1232,2159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001144777.1:intron,NM_001144776.1:intron,NM_001144775.1:intron;ESP6500_GL=ELAVL4;ESP6500_GRCh38_POSITION=1:50106424;ESP6500_GTC=197,1441,3512;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001144777.1:c.19-38533C>A,NM_001144776.1:c.9+2424C>A,NM_001144775.1:c.60+31C>A;ESP6500_MAF=22.5293,7.0472,17.8155;ESP6500_TAC=1835,8465	GT:AD:DP:GQ:PL	0/1:7,14:21:99:356,0,241
chr1	50106490	rs77145026	T	C	268.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.314;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.4;ReadPosRankSum=-0.465;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77145026;dbSNPBuildID=131;ANN=C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324216.1|protein_coding||c.-2700T>C|||||2430|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144774.2|protein_coding||c.-2700T>C|||||2430|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324209.1|protein_coding||c.-35363T>C|||||2430|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324212.1|protein_coding||c.-35363T>C|||||2430|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_021952.4|protein_coding||c.-2700T>C|||||2430|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324217.1|protein_coding||c.-3451T>C|||||3126|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NR_136725.1|pseudogene||n.-3126T>C|||||3126|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001294348.1|protein_coding||c.-3451T>C|||||3126|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324213.1|protein_coding||c.-3451T>C|||||3126|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324214.1|protein_coding||c.-35363T>C|||||3126|,C|upstream_gene_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324215.1|protein_coding||c.-3451T>C|||||3126|,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144775.2|protein_coding|1/6|c.117+97T>C||||||,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144777.2|protein_coding|1/6|c.19-38467T>C||||||,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324208.1|protein_coding|1/6|c.19-38467T>C||||||,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144776.2|protein_coding|1/6|c.9+2490T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=64;p3_1000G_AF=0.0127796;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18394;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50572162;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,11:12:0:294,0,0
chr1	50110003	rs796200205	CTG	C	77.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.159;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=-1.044;SOR=0.481;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs148666401;dbSNPBuildID=146;ANN=C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144775.2|protein_coding|1/6|c.117+3633_117+3634delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144777.2|protein_coding|1/6|c.19-34931_19-34930delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324208.1|protein_coding|1/6|c.19-34931_19-34930delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144776.2|protein_coding|1/6|c.9+6026_9+6027delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324216.1|protein_coding|1/3|c.9+828_9+829delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001144774.2|protein_coding|1/6|c.9+828_9+829delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324209.1|protein_coding|1/6|c.-82+828_-82+829delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324212.1|protein_coding|1/7|c.-82+828_-82+829delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_021952.4|protein_coding|1/6|c.9+828_9+829delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324217.1|protein_coding|1/3|c.24+62_24+63delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NR_136725.1|pseudogene|1/4|n.349+62_349+63delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001294348.1|protein_coding|1/6|c.24+62_24+63delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324213.1|protein_coding|1/6|c.24+62_24+63delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324214.1|protein_coding|1/7|c.-82+62_-82+63delTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ELAVL4|ELAVL4|transcript|NM_001324215.1|protein_coding|1/5|c.24+62_24+63delTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:37,7:44:99:115,0,1104
chr1	50195739	rs2480683	C	T	1863.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.498;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2480683;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001144775.2|protein_coding|5/7|c.795C>T|p.Pro265Pro|807/3828|795/1209|265/402||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001144777.2|protein_coding|5/7|c.696C>T|p.Pro232Pro|847/3868|696/1110|232/369||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324208.1|protein_coding|5/7|c.696C>T|p.Pro232Pro|847/3910|696/1152|232/383||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001144776.2|protein_coding|5/7|c.687C>T|p.Pro229Pro|769/3790|687/1101|229/366||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001144774.2|protein_coding|5/7|c.687C>T|p.Pro229Pro|957/3978|687/1101|229/366||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324209.1|protein_coding|6/7|c.684C>T|p.Pro228Pro|1044/4026|684/1059|228/352||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324212.1|protein_coding|6/8|c.684C>T|p.Pro228Pro|1044/4065|684/1098|228/365||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_021952.4|protein_coding|5/7|c.687C>T|p.Pro229Pro|957/4020|687/1143|229/380||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001294348.1|protein_coding|5/7|c.702C>T|p.Pro234Pro|1027/4048|702/1116|234/371||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324213.1|protein_coding|5/7|c.702C>T|p.Pro234Pro|1027/4090|702/1158|234/385||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324214.1|protein_coding|6/8|c.684C>T|p.Pro228Pro|1114/4135|684/1098|228/365||,T|synonymous_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324215.1|protein_coding|5/6|c.702C>T|p.Pro234Pro|1027/4009|702/1077|234/358||;p3_1000G_AA=C|||;p3_1000G_AC=4089;p3_1000G_AF=0.816494;p3_1000G_AFR_AF=0.3729;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=17170;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9712;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50661411;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2025,2381;ESP6500_AA_AGE=564.0+/-381.3;ESP6500_AA_GTC=475,1075,653;ESP6500_CDS_SIZES=NM_021952.3:1143,NM_001144777.1:1110,NM_001144776.1:1101,NM_001144775.1:1152,NM_001144774.1:1101;ESP6500_CG=1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=88;ESP6500_EA_AC=8336,264;ESP6500_EA_AGE=807.5+/-407.2;ESP6500_EA_GTC=4040,256,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021952.3:coding-synonymous,NM_001144777.1:coding-synonymous,NM_001144776.1:coding-synonymous,NM_001144775.1:coding-synonymous,NM_001144774.1:coding-synonymous;ESP6500_GL=ELAVL4;ESP6500_GRCh38_POSITION=1:50195739;ESP6500_GTC=4515,1331,657;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021952.3:c.687C>T,NM_001144777.1:c.696C>T,NM_001144776.1:c.687C>T,NM_001144775.1:c.738C>T,NM_001144774.1:c.687C>T;ESP6500_HGVS_PROTEIN_VAR=NM_021952.3:p.(P229),NM_001144777.1:p.(P232),NM_001144776.1:p.(P229),NM_001144775.1:p.(P246),NM_001144774.1:p.(P229);ESP6500_MAF=3.0698,45.9601,20.3368;ESP6500_TAC=10361,2645	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1892,183,0
chr1	50200843	rs2494876	C	T	1390.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.61;SOR=2.409;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2494876;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|ELAVL4|ELAVL4|transcript|NM_001324208.1|protein_coding|7/7|c.817C>T|p.Pro273Ser|968/3910|817/1152|273/383||,T|missense_variant|MODERATE|ELAVL4|ELAVL4|transcript|NM_021952.4|protein_coding|7/7|c.808C>T|p.Pro270Ser|1078/4020|808/1143|270/380||,T|missense_variant|MODERATE|ELAVL4|ELAVL4|transcript|NM_001324213.1|protein_coding|7/7|c.823C>T|p.Pro275Ser|1148/4090|823/1158|275/385||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001144775.2|protein_coding|6/6|c.882-8C>T||||||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001144777.2|protein_coding|6/6|c.783-8C>T||||||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001144776.2|protein_coding|6/6|c.774-8C>T||||||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001144774.2|protein_coding|6/6|c.774-8C>T||||||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324209.1|protein_coding|6/6|c.732-8C>T||||||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324212.1|protein_coding|7/7|c.771-8C>T||||||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001294348.1|protein_coding|6/6|c.789-8C>T||||||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324214.1|protein_coding|7/7|c.771-8C>T||||||,T|splice_region_variant&intron_variant|LOW|ELAVL4|ELAVL4|transcript|NM_001324215.1|protein_coding|5/5|c.750-8C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3491;p3_1000G_AF=0.697085;p3_1000G_AFR_AF=0.3442;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=14719;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.9006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50666515;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8804;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1891,2515;ESP6500_AA_AGE=544.0+/-376.4;ESP6500_AA_GTC=416,1059,728;ESP6500_CDS_SIZES=NM_021952.3:1143,NM_001144777.1:1110,NM_001144776.1:1101,NM_001144775.1:1152,NM_001144774.1:1101;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=134;ESP6500_EA_AC=7917,683;ESP6500_EA_AGE=788.5+/-407.6;ESP6500_EA_GTC=3645,627,28;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021952.3:missense,NM_001144777.1:intron,NM_001144776.1:intron,NM_001144775.1:intron,NM_001144774.1:intron;ESP6500_GL=ELAVL4;ESP6500_GRCh38_POSITION=1:50200843;ESP6500_GS=74,.,.,.,.;ESP6500_GTC=4061,1686,756;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021952.3:c.808C>T,NM_001144777.1:c.783-8C>T,NM_001144776.1:c.774-8C>T,NM_001144775.1:c.825-8C>T,NM_001144774.1:c.774-8C>T;ESP6500_HGVS_PROTEIN_VAR=NM_021952.3:p.(P270S),.,.,.,.;ESP6500_MAF=7.9419,42.9187,24.5887;ESP6500_PH=benign:0.001,.,.,.,.;ESP6500_TAC=9808,3198	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1419,132,0
chr1	50419106	rs2746610	G	A	109.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.32;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2746610;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|DMRTA2|DMRTA2|transcript|NM_032110.2|protein_coding|3/3|c.1188C>T|p.Ala396Ala|1528/3083|1188/1629|396/542||	GT:AD:DP:GQ:PL	1/1:0,4:4:9:137,9,0
chr1	50420924	rs1278531	T	C	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.625;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.631;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.278;SOR=0.333;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1278531;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|DMRTA2|DMRTA2|transcript|NM_032110.2|protein_coding|2/2|c.559+54A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=142;p3_1000G_AF=0.0283546;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=13933;p3_1000G_EAS_AF=0.0397;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50886596;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,16:28:99:380,0,284
chr1	50490491	rs143167159;rs750351769;rs552555094;rs566762366	AAAGG	A	176.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.286;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.62;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143167159;dbSNPBuildID=134,144;ANN=A|intron_variant|MODIFIER|FAF1|FAF1|transcript|NM_007051.2|protein_coding|17/18|c.1653+93_1653+96delCCTT||||||;p3_1000G_AC=2395;p3_1000G_AF=0.478235;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=15793;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.5865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50956163;p3_1000G_GRCH37_REF=AAAGG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,7:15:99:0|1:50490491_AAAGG_A:214,0,304
chr1	50490540	rs149582773;rs57541625	C	CAAATACAGTGG	1439.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=1.143;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs149582773;dbSNPBuildID=134,129;ANN=CAAATACAGTGG|intron_variant|MODIFIER|FAF1|FAF1|transcript|NM_007051.2|protein_coding|17/18|c.1653+47_1653+48insCCACTGTATTT||||||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17496;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50956212;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:99:1|1:50490491_AAAGG_A:1477,99,0
chr1	50491837	rs1149790	A	T	167.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1149790;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|FAF1|FAF1|transcript|NM_007051.2|protein_coding|15/18|c.1495-36T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4677;p3_1000G_AF=0.933906;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=16289;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50957509;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4270,136;ESP6500_AA_AGE=97.1+/-135.8;ESP6500_AA_GTC=2069,132,2;ESP6500_CDS_SIZES=NM_007051.2:1953;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=39;ESP6500_EA_AC=7744,856;ESP6500_EA_AGE=190.8+/-237.2;ESP6500_EA_GTC=3493,758,49;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007051.2:intron;ESP6500_GL=FAF1;ESP6500_GRCh38_POSITION=1:50491837;ESP6500_GTC=5562,890,51;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_007051.2:c.1495-36T>A;ESP6500_MAF=9.9535,3.0867,7.6272;ESP6500_TAC=12014,992	GT:AD:DP:GQ:PL	1/1:0,6:6:18:196,18,0
chr1	50959621	rs144699454	CCA	C	105.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.291;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.139;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.64;ReadPosRankSum=0.791;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs144699454;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|FAF1|FAF1|transcript|NM_007051.2|protein_coding|1/18|c.45+144_45+145delTG||||||	GT:AD:DP:GQ:PL	0/1:33,7:40:99:143,0,1108
chr1	51312076	rs7521849	A	G	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.766;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.182;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7521849;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TTC39A|TTC39A|transcript|NM_001297665.1|protein_coding|4/17|c.358+43T>C||||||,G|intron_variant|MODIFIER|TTC39A|TTC39A|transcript|NM_001080494.3|protein_coding|4/17|c.358+43T>C||||||,G|intron_variant|MODIFIER|TTC39A|TTC39A|transcript|NM_001297664.1|protein_coding|4/17|c.274+43T>C||||||,G|intron_variant|MODIFIER|TTC39A|TTC39A|transcript|NM_001297663.1|protein_coding|4/17|c.355+43T>C||||||,G|intron_variant|MODIFIER|TTC39A|TTC39A|transcript|NM_001144832.2|protein_coding|4/17|c.367+43T>C||||||,G|intron_variant|MODIFIER|TTC39A|TTC39A|transcript|NM_001297662.1|protein_coding|4/12|c.355+43T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1217;p3_1000G_AF=0.243011;p3_1000G_AFR_AF=0.438;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=18620;p3_1000G_EAS_AF=0.2669;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=51777748;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1400,2502;ESP6500_AA_GTC=252,896,803;ESP6500_CDS_SIZES=NM_001144832.1:1746,NM_001080494.2:1737;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=23;ESP6500_EA_AC=961,7303;ESP6500_EA_GTC=56,849,3227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001144832.1:intron,NM_001080494.2:intron;ESP6500_GL=TTC39A;ESP6500_GRCh38_POSITION=1:51312076;ESP6500_GTC=308,1745,4030;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001144832.1:c.367+43T>C,NM_001080494.2:c.358+43T>C;ESP6500_MAF=11.6288,35.879,19.4065;ESP6500_TAC=2361,9805	GT:AD:DP:GQ:PL	0/1:13,9:22:99:198,0,289
chr1	51408279	rs1065754	G	A	639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.66;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1065754;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|EPS15|EPS15|transcript|NM_001981.2|protein_coding|15/25|c.1329C>T|p.Tyr443Tyr|1421/5220|1329/2691|443/896||,A|synonymous_variant|LOW|EPS15|EPS15|transcript|NM_001159969.1|protein_coding|3/13|c.387C>T|p.Tyr129Tyr|552/4351|387/1749|129/582||;p3_1000G_AA=A|||;p3_1000G_AC=4120;p3_1000G_AF=0.822684;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=17874;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=51873951;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3854,552;ESP6500_AA_AGE=250.0+/-257.2;ESP6500_AA_GTC=1681,492,30;ESP6500_CDS_SIZES=NM_001981.2:2691,NM_001159969.1:1749;ESP6500_CG=-1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=141;ESP6500_EA_AC=5631,2969;ESP6500_EA_AGE=460.6+/-365.2;ESP6500_EA_GTC=1838,1955,507;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001981.2:coding-synonymous,NM_001159969.1:coding-synonymous;ESP6500_GL=EPS15;ESP6500_GRCh38_POSITION=1:51408279;ESP6500_GTC=3519,2447,537;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001981.2:c.1329C>T,NM_001159969.1:c.387C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001981.2:p.(Y443),NM_001159969.1:p.(Y129);ESP6500_MAF=34.5233,12.5284,27.0721;ESP6500_TAC=9485,3521	GT:AD:DP:GQ:PL	1/1:0,24:24:72:668,72,0
chr1	51440277	rs149345524;rs750839470	C	CTG	77.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.366;SOR=1.022;INS;HET;VARTYPE=INS;dbSNP138_ID=rs149345524,rs3040220;dbSNPBuildID=134,144;ANN=CTG|intron_variant|MODIFIER|EPS15|EPS15|transcript|NM_001981.2|protein_coding|12/24|c.1040+68_1040+69dupCA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,5:7:36:0|1:51440277_C_CTG:115,0,36
chr1	51790403	rs12023878	C	T	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.499;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=5.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=0.939;SOR=0.081;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12023878;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|OSBPL9|OSBPL9|transcript|NM_148909.3|protein_coding||c.*2614C>T|||||1184|,T|downstream_gene_variant|MODIFIER|OSBPL9|OSBPL9|transcript|NM_024586.5|protein_coding||c.*2614C>T|||||1184|,T|downstream_gene_variant|MODIFIER|OSBPL9|OSBPL9|transcript|NM_148906.2|protein_coding||c.*2614C>T|||||1184|,T|downstream_gene_variant|MODIFIER|OSBPL9|OSBPL9|transcript|NM_148908.3|protein_coding||c.*2614C>T|||||1184|,T|downstream_gene_variant|MODIFIER|OSBPL9|OSBPL9|transcript|NR_036662.1|pseudogene||n.*1184C>T|||||1184|,T|downstream_gene_variant|MODIFIER|OSBPL9|OSBPL9|transcript|NM_148904.3|protein_coding||c.*2614C>T|||||1184|,T|downstream_gene_variant|MODIFIER|OSBPL9|OSBPL9|transcript|NM_148905.3|protein_coding||c.*2614C>T|||||1184|,T|downstream_gene_variant|MODIFIER|OSBPL9|OSBPL9|transcript|NM_148907.2|protein_coding||c.*2614C>T|||||1184|,T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_002525.2|protein_coding|31/32|c.3372+130G>A||||||,T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|31/32|c.2976+130G>A||||||,T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|29/30|c.3168+130G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=145;p3_1000G_AF=0.0289537;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=19580;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52256075;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,19:29:99:536,0,338
chr1	51798392	rs1770791	A	G	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.168;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=0.903;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1770791;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_002525.2|protein_coding|24/33|c.2665T>C|p.Leu889Leu|2987/4024|2665/3660|889/1219||,G|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|24/33|c.2269T>C|p.Leu757Leu|2382/3419|2269/3264|757/1087||,G|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|22/31|c.2461T>C|p.Leu821Leu|2783/3820|2461/3456|821/1151||;p3_1000G_AA=G|||;p3_1000G_AC=1799;p3_1000G_AF=0.359225;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=19295;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52264064;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2589,1817;ESP6500_AA_AGE=530.3+/-372.9;ESP6500_AA_GTC=743,1103,357;ESP6500_CDS_SIZES=NM_002525.2:3660,NM_001242361.1:3264,NM_001101662.1:3456;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=62;ESP6500_EA_AC=2078,6522;ESP6500_EA_AGE=717.4+/-406.2;ESP6500_EA_GTC=252,1574,2474;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002525.2:coding-synonymous,NM_001242361.1:coding-synonymous,NM_001101662.1:coding-synonymous;ESP6500_GL=NRD1;ESP6500_GRCh38_POSITION=1:51798392;ESP6500_GTC=995,2677,2831;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002525.2:c.2665T>C,NM_001242361.1:c.2269T>C,NM_001101662.1:c.2461T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002525.2:p.(L889),NM_001242361.1:p.(L757),NM_001101662.1:p.(L821);ESP6500_MAF=24.1628,41.2392,35.8834;ESP6500_TAC=4667,8339	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,7:10:60:0|1:51798389_C_G:200,0,60
chr1	51800570	rs8375	G	A	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.984;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=-0.637;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8375;dbSNPBuildID=102;ANN=A|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_002525.2|protein_coding|23/33|c.2631C>T|p.Pro877Pro|2953/4024|2631/3660|877/1219||,A|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|23/33|c.2235C>T|p.Pro745Pro|2348/3419|2235/3264|745/1087||,A|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|21/31|c.2427C>T|p.Pro809Pro|2749/3820|2427/3456|809/1151||;p3_1000G_AA=G|||;p3_1000G_AC=2449;p3_1000G_AF=0.489018;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=20173;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.5298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52266242;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1228,3178;ESP6500_AA_AGE=426.2+/-341.1;ESP6500_AA_GTC=165,898,1140;ESP6500_CDS_SIZES=NM_002525.2:3660,NM_001242361.1:3264,NM_001101662.1:3456;ESP6500_CG=-4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=174;ESP6500_EA_AC=4321,4279;ESP6500_EA_AGE=579.3+/-390.9;ESP6500_EA_GTC=1083,2155,1062;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002525.2:coding-synonymous,NM_001242361.1:coding-synonymous,NM_001101662.1:coding-synonymous;ESP6500_GL=NRD1;ESP6500_GRCh38_POSITION=1:51800570;ESP6500_GTC=1248,3053,2202;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002525.2:c.2631C>T,NM_001242361.1:c.2235C>T,NM_001101662.1:c.2427C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002525.2:p.(P877),NM_001242361.1:p.(P745),NM_001101662.1:p.(P809);ESP6500_MAF=49.7558,27.8711,42.6649;ESP6500_TAC=5549,7457	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,16:46:99:1|0:51800568_T_C:347,0,753
chr1	51800678	rs2273198	C	T	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=0.271;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273198;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_002525.2|protein_coding|23/33|c.2523G>A|p.Leu841Leu|2845/4024|2523/3660|841/1219||,T|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|23/33|c.2127G>A|p.Leu709Leu|2240/3419|2127/3264|709/1087||,T|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|21/31|c.2319G>A|p.Leu773Leu|2641/3820|2319/3456|773/1151||;p3_1000G_AA=C|||;p3_1000G_AC=309;p3_1000G_AF=0.0617013;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=21108;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52266350;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=229,4177;ESP6500_AA_AGE=137.3+/-173.1;ESP6500_AA_GTC=7,215,1981;ESP6500_CDS_SIZES=NM_002525.2:3660,NM_001242361.1:3264,NM_001101662.1:3456;ESP6500_CG=-3.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=89;ESP6500_EA_AC=258,8342;ESP6500_EA_AGE=99.3+/-160.8;ESP6500_EA_GTC=7,244,4049;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002525.2:coding-synonymous,NM_001242361.1:coding-synonymous,NM_001101662.1:coding-synonymous;ESP6500_GL=NRD1;ESP6500_GRCh38_POSITION=1:51800678;ESP6500_GTC=14,459,6030;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002525.2:c.2523G>A,NM_001242361.1:c.2127G>A,NM_001101662.1:c.2319G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002525.2:p.(L841),NM_001242361.1:p.(L709),NM_001101662.1:p.(L773);ESP6500_MAF=3.0,5.1975,3.7444;ESP6500_TAC=487,12519	GT:AD:DP:GQ:PL	0/1:5,13:18:99:373,0,124
chr1	51807050	rs34531885;rs565298912;rs67317748	TTAG	T	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67317748,rs34531885;dbSNPBuildID=131,126,142;ANN=T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_002525.2|protein_coding|19/32|c.2195-140_2195-138delCTA||||||,T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|19/32|c.1799-140_1799-138delCTA||||||,T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|17/30|c.1991-140_1991-138delCTA||||||;p3_1000G_AC=3986;p3_1000G_AF=0.795927;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=17115;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.6938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52272722;p3_1000G_GRCH37_REF=TTAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0
chr1	51813978	rs2982846	T	G	878.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.29;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2982846;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_002525.2|protein_coding|16/32|c.1878+57A>C||||||,G|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|16/32|c.1482+57A>C||||||,G|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|14/30|c.1674+57A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4179;p3_1000G_AF=0.834465;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=18650;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.6889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52279650;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1210,174;ESP6500_AA_GTC=527,156,9;ESP6500_CDS_SIZES=NM_002525.2:3660,NM_001242361.1:3264,NM_001101662.1:3456;ESP6500_CG=0.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=106;ESP6500_EA_AC=2085,1097;ESP6500_EA_GTC=674,737,180;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002525.2:intron,NM_001242361.1:intron,NM_001101662.1:intron;ESP6500_GL=NRD1;ESP6500_GRCh38_POSITION=1:51813978;ESP6500_GTC=1201,893,189;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_002525.2:c.1878+57A>C,NM_001242361.1:c.1482+57A>C,NM_001101662.1:c.1674+57A>C;ESP6500_MAF=34.4752,12.5723,27.8362;ESP6500_TAC=3295,1271	GT:AD:DP:GQ:PL	1/1:0,30:30:90:907,90,0
chr1	51823548	rs34812066;rs67976949	TGTATTAAGGTCAA	T	592.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.85;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67976949,rs34812066;dbSNPBuildID=134,129;ANN=T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_002525.2|protein_coding|9/32|c.1363+103_1363+115delTTGACCTTAATAC||||||,T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|9/32|c.967+103_967+115delTTGACCTTAATAC||||||,T|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|7/30|c.1159+103_1159+115delTTGACCTTAATAC||||||;p3_1000G_AC=2816;p3_1000G_AF=0.5623;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=19205;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52289220;p3_1000G_GRCH37_REF=TGTATTAAGGTCAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:42:630,42,0
chr1	51825312	rs11205896	T	G	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.866;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.403;SOR=0.714;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11205896;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_002525.2|protein_coding|8/33|c.1215A>C|p.Gly405Gly|1537/4024|1215/3660|405/1219||,G|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|8/33|c.819A>C|p.Gly273Gly|932/3419|819/3264|273/1087||,G|synonymous_variant|LOW|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|6/31|c.1011A>C|p.Gly337Gly|1333/3820|1011/3456|337/1151||;p3_1000G_AA=T|||;p3_1000G_AC=2496;p3_1000G_AF=0.498403;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=18122;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.5239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52290984;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1286,3120;ESP6500_AA_AGE=435.5+/-344.3;ESP6500_AA_GTC=172,942,1089;ESP6500_CDS_SIZES=NM_002525.2:3660,NM_001242361.1:3264,NM_001101662.1:3456;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=62;ESP6500_EA_AC=4311,4289;ESP6500_EA_AGE=576.1+/-390.3;ESP6500_EA_GTC=1077,2157,1066;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002525.2:coding-synonymous,NM_001242361.1:coding-synonymous,NM_001101662.1:coding-synonymous;ESP6500_GL=NRD1;ESP6500_GRCh38_POSITION=1:51825312;ESP6500_GTC=1249,3099,2155;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_002525.2:c.1215A>C,NM_001242361.1:c.819A>C,NM_001101662.1:c.1011A>C;ESP6500_HGVS_PROTEIN_VAR=NM_002525.2:p.(G405),NM_001242361.1:p.(G273),NM_001101662.1:p.(G337);ESP6500_MAF=49.8721,29.1875,43.034;ESP6500_TAC=5597,7409	GT:AD:DP:GQ:PL	0/1:13,11:24:99:253,0,274
chr1	51827898	rs2077725	G	A	568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2077725;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_002525.2|protein_coding|6/32|c.1071-29C>T||||||,A|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|6/32|c.675-29C>T||||||,A|intron_variant|MODIFIER|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|4/30|c.867-29C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3128;p3_1000G_AF=0.624601;p3_1000G_AFR_AF=0.4047;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=16125;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52293570;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1891,2515;ESP6500_AA_AGE=539.9+/-375.4;ESP6500_AA_GTC=419,1053,731;ESP6500_CDS_SIZES=NM_002525.2:3660,NM_001242361.1:3264,NM_001101662.1:3456;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=50;ESP6500_EA_AC=5257,3343;ESP6500_EA_AGE=637.0+/-399.2;ESP6500_EA_GTC=1584,2089,627;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002525.2:intron,NM_001242361.1:intron,NM_001101662.1:intron;ESP6500_GL=NRD1;ESP6500_GRCh38_POSITION=1:51827898;ESP6500_GTC=2003,3142,1358;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002525.2:c.1071-29C>T,NM_001242361.1:c.675-29C>T,NM_001101662.1:c.867-29C>T;ESP6500_MAF=38.8721,42.9187,45.0408;ESP6500_TAC=7148,5858	GT:AD:DP:GQ:PL	1/1:0,18:18:54:597,54,0
chr1	51840391	rs35723519;rs60220085	ATCT	A	2261.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=0.931;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35723519,rs60220085;dbSNPBuildID=126,129;ANN=A|disruptive_inframe_deletion|MODERATE|NRDC|NRDC|transcript|NM_002525.2|protein_coding|2/33|c.462_464delAGA|p.Glu154del|786/4024|462/3660|154/1219||,A|disruptive_inframe_deletion|MODERATE|NRDC|NRDC|transcript|NM_001242361.1|protein_coding|2/33|c.66_68delAGA|p.Glu22del|181/3419|66/3264|22/1087||,A|disruptive_inframe_deletion|MODERATE|NRDC|NRDC|transcript|NM_001101662.1|protein_coding|2/31|c.462_464delAGA|p.Glu154del|786/3820|462/3456|154/1151||,A|upstream_gene_variant|MODIFIER|MIR761|MIR761|transcript|NR_031580.1|pseudogene||n.-3992_-3990delAGA|||||3990|;p3_1000G_AC=2813;p3_1000G_AF=0.561701;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=19365;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.5457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52306063;p3_1000G_GRCH37_REF=ATCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,54:54:99:2299,162,0
chr1	51937184	rs10888741	T	G	853.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888741;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|RAB3B|RAB3B|transcript|NM_002867.3|protein_coding|3/4|c.347+110A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4416;p3_1000G_AF=0.881789;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=21384;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52402856;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:882,72,0
chr1	51937284	rs10888742	G	A	1847.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.69;SOR=1.48;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888742;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|RAB3B|RAB3B|transcript|NM_002867.3|protein_coding|3/4|c.347+10C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4415;p3_1000G_AF=0.881589;p3_1000G_AFR_AF=0.6831;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=19467;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52402956;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3271,1135;ESP6500_AA_AGE=404.6+/-333.2;ESP6500_AA_GTC=1231,809,163;ESP6500_CDS_SIZES=NM_002867.3:660;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=95;ESP6500_EA_AC=8199,401;ESP6500_EA_AGE=127.3+/-185.7;ESP6500_EA_GTC=3909,381,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002867.3:intron;ESP6500_GL=RAB3B;ESP6500_GRCh38_POSITION=1:51937284;ESP6500_GTC=5140,1190,173;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002867.3:c.347+10C>T;ESP6500_MAF=4.6628,25.7603,11.8099;ESP6500_TAC=11470,1536	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1876,156,0
chr1	52023650	rs2783178	G	A	715.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2783178;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NM_015913.3|protein_coding|5/6|c.356-76C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4626;p3_1000G_AF=0.923722;p3_1000G_AFR_AF=0.7231;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=20190;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52489322;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:744,66,0
chr1	52024623	rs75521943	C	T	379.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.792;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.22;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75521943;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NM_015913.3|protein_coding|4/6|c.286-44G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=243;p3_1000G_AF=0.0485224;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=21117;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52490295;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=124,4282;ESP6500_AA_GTC=2,120,2081;ESP6500_CDS_SIZES=NM_015913.3:519;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=40;ESP6500_EA_AC=16,8572;ESP6500_EA_GTC=0,16,4278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015913.3:intron;ESP6500_GL=TXNDC12;ESP6500_GRCh38_POSITION=1:52024623;ESP6500_GTC=2,136,6359;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015913.3:c.286-44G>A;ESP6500_MAF=0.1863,2.8143,1.0774;ESP6500_TAC=140,12854	GT:AD:DP:GQ:PL	0/1:15,14:29:99:408,0,373
chr1	52024746	rs4926906	C	T	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-1.335;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4926906;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NM_015913.3|protein_coding|4/6|c.286-167G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3524;p3_1000G_AF=0.703674;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=20992;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.9145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52490418;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:141,0,223
chr1	52030573	rs17106976	T	C	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.551;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.123;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17106976;dbSNPBuildID=123;ANN=C|downstream_gene_variant|MODIFIER|KTI12|KTI12|transcript|NM_138417.2|protein_coding||c.*2124A>G|||||1532|,C|downstream_gene_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NR_046405.1|pseudogene||n.*1524A>G|||||1524|,C|downstream_gene_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NR_046406.1|pseudogene||n.*1524A>G|||||1524|,C|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NM_015913.3|protein_coding|2/6|c.159-1943A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=204;p3_1000G_AF=0.0407348;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=18036;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52496245;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,18:38:99:405,0,472
chr1	52032698	rs2809917	C	T	484.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.201;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.861;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2809917;dbSNPBuildID=100;ANN=T|stop_retained_variant|LOW|KTI12|KTI12|transcript|NM_138417.2|protein_coding|1/1|c.1064G>A|p.Ter355Ter|1103/1696|1064/1065|355/354||,T|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NM_015913.3|protein_coding|2/6|c.159-4068G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NR_046405.1|pseudogene|3/3|n.2587G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NR_046406.1|pseudogene|3/3|n.2464G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1102;p3_1000G_AF=0.220048;p3_1000G_AFR_AF=0.4092;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=20525;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.0855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52498370;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1580,2826;ESP6500_AA_AGE=652.5+/-399.4;ESP6500_AA_GTC=302,976,925;ESP6500_CDS_SIZES=NM_138417.2:1065,NM_015913.3:519;ESP6500_CG=0.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=971,7629;ESP6500_EA_AGE=757.0+/-407.5;ESP6500_EA_GTC=46,879,3375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138417.2:coding-synonymous,NM_015913.3:intron;ESP6500_GL=TXNDC12,KTI12;ESP6500_GRCh38_POSITION=1:52032698;ESP6500_GTC=348,1855,4300;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138417.2:c.1064G>A,NM_015913.3:c.159-4068G>A;ESP6500_HGVS_PROTEIN_VAR=NM_138417.2:p.(*355),.;ESP6500_MAF=11.2907,35.8602,19.614;ESP6500_TAC=2551,10455	GT:AD:DP:GQ:PL	0/1:21,19:40:99:513,0,559
chr1	52033189	rs2783175	A	T	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.743;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=6.152;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-0.473;SOR=1.376;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2783175;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|KTI12|KTI12|transcript|NM_138417.2|protein_coding|1/1|c.573T>A|p.Asp191Glu|612/1696|573/1065|191/354||,T|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NM_015913.3|protein_coding|2/6|c.159-4559T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NR_046405.1|pseudogene|3/3|n.2096T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NR_046406.1|pseudogene|3/3|n.1973T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=355;p3_1000G_AF=0.0708866;p3_1000G_AFR_AF=0.0802;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=16217;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52498861;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=319,4087;ESP6500_AA_AGE=793.0+/-415.2;ESP6500_AA_GTC=11,297,1895;ESP6500_CDS_SIZES=NM_138417.2:1065,NM_015913.3:519;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=398,8202;ESP6500_EA_AGE=798.7+/-407.4;ESP6500_EA_GTC=7,384,3909;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138417.2:missense,NM_015913.3:intron;ESP6500_GL=TXNDC12,KTI12;ESP6500_GRCh38_POSITION=1:52033189;ESP6500_GS=45,.;ESP6500_GTC=18,681,5804;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_138417.2:c.573T>A,NM_015913.3:c.159-4559T>A;ESP6500_HGVS_PROTEIN_VAR=NM_138417.2:p.(D191E),.;ESP6500_MAF=4.6279,7.2401,5.5128;ESP6500_PH=benign:0.0,.;ESP6500_TAC=717,12289	GT:AD:DP:GQ:PL	0/1:10,18:28:99:494,0,210
chr1	52041398	rs2809958	T	A	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.66;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=0.301;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2809958;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NM_015913.3|protein_coding|2/6|c.158+139A>T||||||,A|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NR_046405.1|pseudogene|2/2|n.1233+139A>T||||||,A|intron_variant|MODIFIER|TXNDC12|TXNDC12|transcript|NR_046406.1|pseudogene|2/2|n.1233+139A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1105;p3_1000G_AF=0.220647;p3_1000G_AFR_AF=0.4085;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=21208;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52507070;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:80:253,0,80
chr1	52064651	rs2809951	G	A	127.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.3;ReadPosRankSum=-0.431;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2809951;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_152265.4|protein_coding|2/5|c.55-174G>A||||||,A|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_001136497.2|protein_coding|1/4|c.-120-174G>A||||||,A|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_001243767.1|protein_coding|2/4|c.55-174G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4433;p3_1000G_AF=0.885184;p3_1000G_AFR_AF=0.7262;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=15322;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52530323;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,5:6:25:156,0,25
chr1	52065085	rs12026584	A	G	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.49;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.886;SOR=1.347;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12026584;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_152265.4|protein_coding|3/5|c.168+147A>G||||||,G|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_001136497.2|protein_coding|2/4|c.-7+147A>G||||||,G|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_001243767.1|protein_coding|3/4|c.168+147A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=202;p3_1000G_AF=0.0403355;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=17065;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52530757;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:285,0,233
chr1	52086329	rs2985749	A	C	198.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.89;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.483;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.135;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2985749;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_152265.4|protein_coding|5/5|c.430+158A>C||||||,C|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_001136497.2|protein_coding|4/4|c.256+158A>C||||||,C|intron_variant|MODIFIER|BTF3L4|BTF3L4|transcript|NM_001243767.1|protein_coding|4/4|c.228+158A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=575;p3_1000G_AF=0.114816;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=18962;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52552001;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,7:22:99:227,0,454
chr1	52239613	rs3790523	A	G	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.59;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.05;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790523;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ZFYVE9|ZFYVE9|transcript|NM_004799.3|protein_coding|4/18|c.2178+18A>G||||||,G|intron_variant|MODIFIER|ZFYVE9|ZFYVE9|transcript|NM_007324.3|protein_coding|4/17|c.2178+18A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1424;p3_1000G_AF=0.284345;p3_1000G_AFR_AF=0.6967;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=20782;p3_1000G_EAS_AF=0.1607;p3_1000G_EUR_AF=0.0606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52705285;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2588,1816;ESP6500_AA_GTC=777,1034,391;ESP6500_CDS_SIZES=NM_007324.2:4101,NM_007323.1:2289,NM_004799.2:4278;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=34;ESP6500_EA_AC=602,7996;ESP6500_EA_GTC=21,560,3718;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007324.2:intron,NM_007323.1:intron,NM_004799.2:intron;ESP6500_GL=ZFYVE9;ESP6500_GRCh38_POSITION=1:52239613;ESP6500_GTC=798,1594,4109;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007324.2:c.2178+18A>G,NM_007323.1:c.2178+18A>G,NM_004799.2:c.2178+18A>G;ESP6500_MAF=7.0016,41.2352,24.5347;ESP6500_TAC=3190,9812	GT:AD:DP:GQ:PL	0/1:8,6:14:99:211,0,203
chr1	52263760	rs3833531;rs75677938	C	G	95.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.21;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-1.383;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368561505,rs3833531;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|ZFYVE9|ZFYVE9|transcript|NM_004799.3|protein_coding|4/18|c.2179-13C>G||||||,G|intron_variant|MODIFIER|ZFYVE9|ZFYVE9|transcript|NM_007324.3|protein_coding|4/17|c.2179-13C>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1453;p3_1000G_AF=0.290136;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=11341;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52729432;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=504,3790;ESP6500_AA_GTC=153,198,1796;ESP6500_CDS_SIZES=NM_007324.2:4101,NM_007323.1:2289,NM_004799.2:4278;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=15;ESP6500_EA_AC=3797,4669;ESP6500_EA_GTC=1339,1119,1775;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007324.2:intron,NM_007323.1:intron,NM_004799.2:intron;ESP6500_GL=ZFYVE9;ESP6500_GRCh38_POSITION=1:52263760;ESP6500_GTC=1492,1317,3571;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_007324.2:c.2179-13C>G,NM_007323.1:c.2179-13C>G,NM_004799.2:c.2179-13C>G;ESP6500_MAF=44.85,11.7373,33.7069;ESP6500_TAC=4301,8459	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,5:6:27:1|0:52263753_TCC_T:124,0,27
chr1	52345909	rs7517338	C	T	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.751;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.667;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-0.823;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7517338;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|CC2D1B|CC2D1B|transcript|NM_032449.2|protein_coding||c.*7610G>A|||||4684|,T|intron_variant|MODIFIER|ZFYVE9|ZFYVE9|transcript|NM_004799.3|protein_coding|18/18|c.4117-151C>T||||||,T|intron_variant|MODIFIER|ZFYVE9|ZFYVE9|transcript|NM_007324.3|protein_coding|17/17|c.3940-151C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1413;p3_1000G_AF=0.282149;p3_1000G_AFR_AF=0.6823;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=21145;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52811581;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,17:45:99:0|1:52345909_C_T:399,0,802
chr1	52354554	rs2820334	G	A	2695.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2820334;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CC2D1B|CC2D1B|transcript|NM_032449.2|protein_coding|23/23|c.2448+54C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4982;p3_1000G_AF=0.994808;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=21499;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52820226;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1358,26;ESP6500_AA_GTC=666,26,0;ESP6500_CDS_SIZES=NM_032449.2:2577;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032449.2:intron;ESP6500_GL=CC2D1B;ESP6500_GRCh38_POSITION=1:52354554;ESP6500_GTC=2257,26,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032449.2:c.2448+54C>T;ESP6500_MAF=0.0,1.8786,0.5694;ESP6500_TAC=4540,26	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2724,264,0
chr1	52381799	rs3087474	C	T	851.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.163;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.294;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=0.453;SOR=1.037;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087474;dbSNPBuildID=102;ANN=T|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_001190818.1|protein_coding|13/16|c.2014-38G>A||||||,T|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_001190819.1|protein_coding|13/16|c.1999-38G>A||||||,T|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_004153.3|protein_coding|13/16|c.2014-38G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1394;p3_1000G_AF=0.278355;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=17289;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.0596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52847471;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2546,1860;ESP6500_AA_AGE=538.5+/-375.0;ESP6500_AA_GTC=757,1032,414;ESP6500_CDS_SIZES=NM_004153.3:2586,NM_001190819.1:2571,NM_001190818.1:2586;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=67;ESP6500_EA_AC=594,8006;ESP6500_EA_AGE=792.9+/-407.5;ESP6500_EA_GTC=16,562,3722;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004153.3:intron,NM_001190819.1:intron,NM_001190818.1:intron;ESP6500_GL=ORC1;ESP6500_GRCh38_POSITION=1:52381799;ESP6500_GTC=773,1594,4136;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004153.3:c.2014-38G>A,NM_001190819.1:c.1999-38G>A,NM_001190818.1:c.2014-38G>A;ESP6500_MAF=6.907,42.2152,24.1427;ESP6500_TAC=3140,9866	GT:AD:DP:GQ:PL	0/1:23,30:53:99:880,0,672
chr1	52384774	rs3087484	T	C	341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.79;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=0.66;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087484;dbSNPBuildID=102;ANN=C|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_001190818.1|protein_coding|10/16|c.1584-53A>G||||||,C|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_001190819.1|protein_coding|10/16|c.1569-53A>G||||||,C|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_004153.3|protein_coding|10/16|c.1584-53A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1412;p3_1000G_AF=0.281949;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=20366;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52850446;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:370,0,284
chr1	52385936	rs3087481;129856	G	A	524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-0.652;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087481;dbSNPBuildID=102;ANN=A|missense_variant|MODERATE|ORC1|ORC1|transcript|NM_001190818.1|protein_coding|9/17|c.1397C>T|p.Thr466Met|1625/3166|1397/2586|466/861||,A|missense_variant|MODERATE|ORC1|ORC1|transcript|NM_001190819.1|protein_coding|9/17|c.1382C>T|p.Thr461Met|1613/3154|1382/2571|461/856||,A|missense_variant|MODERATE|ORC1|ORC1|transcript|NM_004153.3|protein_coding|9/17|c.1397C>T|p.Thr466Met|1628/3169|1397/2586|466/861||;p3_1000G_AA=g|||;p3_1000G_AC=186;p3_1000G_AF=0.0371406;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=18986;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52851608;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=9,4397;ESP6500_AA_AGE=14.3+/-33.2;ESP6500_AA_GTC=0,9,2194;ESP6500_CDS_SIZES=NM_004153.3:2586,NM_001190819.1:2571,NM_001190818.1:2586;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=43;ESP6500_EA_AC=13,8587;ESP6500_EA_AGE=9.1+/-34.3;ESP6500_EA_GTC=0,13,4287;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004153.3:missense,NM_001190819.1:missense,NM_001190818.1:missense;ESP6500_GL=ORC1;ESP6500_GRCh38_POSITION=1:52385936;ESP6500_GS=81,81,81;ESP6500_GTC=0,22,6481;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004153.3:c.1397C>T,NM_001190819.1:c.1382C>T,NM_001190818.1:c.1397C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004153.3:p.(T466M),NM_001190819.1:p.(T461M),NM_001190818.1:p.(T466M);ESP6500_MAF=0.1512,0.2043,0.1692;ESP6500_PH=possibly-damaging:0.946,possibly-damaging:0.946,possibly-damaging:0.946;ESP6500_TAC=22,12984;CLINVAR_AF_ESP=0.0017;CLINVAR_AF_EXAC=0.02381;CLINVAR_AF_TGP=0.0371;CLINVAR_ALLELEID=135302;CLINVAR_CLNDISDB=MedGen:C1868684,Orphanet:ORPHA2554|MedGen:CN169374;CLINVAR_CLNDN=Meier-Gorlin_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.52385936G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59644|UniProtKB_(protein):Q13415#VAR_014513;CLINVAR_GENEINFO=ORC1:4998;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3087481	GT:AD:DP:GQ:PL	0/1:33,23:56:99:553,0,757
chr1	52386047	rs11205953	G	C	274.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=2.208;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.616;SOR=0.247;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11205953;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_001190818.1|protein_coding|8/16|c.1384-98C>G||||||,C|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_001190819.1|protein_coding|8/16|c.1369-98C>G||||||,C|intron_variant|MODIFIER|ORC1|ORC1|transcript|NM_004153.3|protein_coding|8/16|c.1384-98C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=795;p3_1000G_AF=0.158746;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=19856;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.0537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52851719;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,10:28:99:303,0,613
chr1	52412628	rs4319263	T	A	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.976;SOR=0.83;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4319263;dbSNPBuildID=111;ANN=A|splice_region_variant&intron_variant|LOW|PRPF38A|PRPF38A|transcript|NM_032864.3|protein_coding|5/9|c.609+4T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1897;p3_1000G_AF=0.378794;p3_1000G_AFR_AF=0.7852;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=19551;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.1948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52878300;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3029,1377;ESP6500_AA_AGE=454.7+/-350.8;ESP6500_AA_GTC=1053,923,227;ESP6500_CDS_SIZES=NM_032864.3:939;ESP6500_CG=4.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=89;ESP6500_EA_AC=1858,6742;ESP6500_EA_AGE=730.2+/-406.8;ESP6500_EA_GTC=180,1498,2622;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032864.3:intron;ESP6500_GL=PRPF38A;ESP6500_GRCh38_POSITION=1:52412628;ESP6500_GTC=1233,2421,2849;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_032864.3:c.609+4T>A;ESP6500_MAF=21.6047,31.2528,37.575;ESP6500_TAC=4887,8119	GT:AD:DP:GQ:PL	0/1:28,21:49:99:522,0,672
chr1	52446450	rs397740790;rs55749039	T	TA	69.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.876;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=7.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.464;SOR=0.598;INS;HET;VARTYPE=INS;dbSNP138_ID=rs55749039;dbSNPBuildID=137,138;ANN=TA|intron_variant|MODIFIER|ZCCHC11|ZCCHC11|transcript|NM_001009881.2|protein_coding|21/29|c.3514-9dupT||||||,TA|intron_variant|MODIFIER|ZCCHC11|ZCCHC11|transcript|NM_015269.2|protein_coding|21/29|c.3514-9dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1339;p3_1000G_AF=0.267372;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=16588;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.3439;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52912122;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,5:9:84:107,0,84
chr1	52465254	rs1244026498	C	CA	365.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.166;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=1.11;SOR=0.112;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=CA|intron_variant|MODIFIER|ZCCHC11|ZCCHC11|transcript|NM_001009881.2|protein_coding|15/29|c.2966-82dupT||||||,CA|intron_variant|MODIFIER|ZCCHC11|ZCCHC11|transcript|NM_015269.2|protein_coding|15/29|c.2966-82dupT||||||	GT:AD:DP:GQ:PL	0/1:7,13:20:99:403,0,190
chr1	52525966	rs12123698	C	T	1174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.547;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.648;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12123698;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ZCCHC11|ZCCHC11|transcript|NM_001009881.2|protein_coding|2/30|c.315G>A|p.Pro105Pro|568/5850|315/4938|105/1645||,T|synonymous_variant|LOW|ZCCHC11|ZCCHC11|transcript|NM_015269.2|protein_coding|2/30|c.315G>A|p.Pro105Pro|568/5847|315/4935|105/1644||;p3_1000G_AA=C|||;p3_1000G_AC=1432;p3_1000G_AF=0.285942;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18667;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=52991638;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=338,4068;ESP6500_AA_AGE=178.3+/-207.1;ESP6500_AA_GTC=19,300,1884;ESP6500_CDS_SIZES=NM_015269.2:4935,NM_001009881.2:4938;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=140;ESP6500_EA_AC=2874,5726;ESP6500_EA_AGE=451.4+/-362.6;ESP6500_EA_GTC=481,1912,1907;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015269.2:coding-synonymous,NM_001009881.2:coding-synonymous;ESP6500_GL=ZCCHC11;ESP6500_GRCh38_POSITION=1:52525966;ESP6500_GTC=500,2212,3791;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015269.2:c.315G>A,NM_001009881.2:c.315G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015269.2:p.(P105),NM_001009881.2:p.(P105);ESP6500_MAF=33.4186,7.6714,24.6963;ESP6500_TAC=3212,9794	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1203,0,1048
chr1	52606782	rs1970951	T	C	1919.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.13;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.108;SOR=0.642;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1970951;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|GPX7|GPX7|transcript|NM_015696.4|protein_coding|2/3|c.237T>C|p.Phe79Phe|276/1229|237/564|79/187||,C|sequence_feature|LOW|GPX7|GPX7|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_015696.4|protein_coding|2/3|c.237T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4397;p3_1000G_AF=0.877995;p3_1000G_AFR_AF=0.9743;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=19532;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53072454;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4197,209;ESP6500_AA_AGE=129.4+/-166.1;ESP6500_AA_GTC=2000,197,6;ESP6500_CDS_SIZES=NM_015696.4:564;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=89;ESP6500_EA_AC=7195,1405;ESP6500_EA_AGE=270.8+/-289.2;ESP6500_EA_GTC=3005,1185,110;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015696.4:coding-synonymous;ESP6500_GL=GPX7;ESP6500_GRCh38_POSITION=1:52606782;ESP6500_GTC=5005,1382,116;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015696.4:c.237T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015696.4:p.(F79);ESP6500_MAF=16.3372,4.7435,12.4097;ESP6500_TAC=11392,1614	GT:AD:DP:GQ:PL	0/1:42,62:104:99:1948,0,975
chr1	52607069	rs1970950	A	G	825.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.9;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=-1.456;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1970950;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|GPX7|GPX7|transcript|NM_015696.4|protein_coding|2/2|c.400+124A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4104;p3_1000G_AF=0.819489;p3_1000G_AFR_AF=0.9107;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=19009;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.7465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53072741;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,26:48:99:854,0,667
chr1	52688244	rs375971356	A	AT	28.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=-0.672;SOR=0.18;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=AT|intron_variant|MODIFIER|COA7|COA7|transcript|NM_023077.2|protein_coding|2/2|c.248-77dupA||||||	GT:AD:DP:GQ:PL	0/1:9,5:14:66:66,0,201
chr1	52726515	rs269298	C	T	174.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs269298;dbSNPBuildID=79;ANN=T|5_prime_UTR_variant|MODIFIER|ZYG11B|ZYG11B|transcript|NM_024646.2|protein_coding|1/14|c.-139C>T|||||139|;p3_1000G_AA=T|||;p3_1000G_AC=4271;p3_1000G_AF=0.852835;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=5668;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53192187;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9888;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:203,18,0
chr1	52771854	rs1571979	G	A	293.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1571979;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ZYG11B|ZYG11B|transcript|NM_024646.2|protein_coding|3/13|c.951+80G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3580;p3_1000G_AF=0.714856;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=19352;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.4284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53237526;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:322,30,0
chr1	52779800	rs9661082	A	T	808.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9661082;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|ZYG11B|ZYG11B|transcript|NM_024646.2|protein_coding|3/13|c.952-53A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3580;p3_1000G_AF=0.714856;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=16445;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.4284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53245472;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:837,84,0
chr1	52784978	rs6588443	G	A	3181.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6588443;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|ZYG11B|ZYG11B|transcript|NM_024646.2|protein_coding|5/14|c.1194G>A|p.Gly398Gly|1389/8142|1194/2235|398/744||;p3_1000G_AA=A|||;p3_1000G_AC=3580;p3_1000G_AF=0.714856;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=19255;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.4284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53250650;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3635,771;ESP6500_AA_AGE=314.4+/-293.6;ESP6500_AA_GTC=1509,617,77;ESP6500_CDS_SIZES=NM_024646.2:2235;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=117;ESP6500_EA_AC=3826,4774;ESP6500_EA_AGE=611.1+/-395.8;ESP6500_EA_GTC=841,2144,1315;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024646.2:coding-synonymous;ESP6500_GL=ZYG11B;ESP6500_GRCh38_POSITION=1:52784978;ESP6500_GTC=2350,2761,1392;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024646.2:c.1194G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024646.2:p.(G398);ESP6500_MAF=44.4884,17.4989,42.6342;ESP6500_TAC=7461,5545	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3210,318,0
chr1	52805553	rs487453	T	C	405.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs487453;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|ZYG11B|ZYG11B|transcript|NM_024646.2|protein_coding|10/13|c.1695+3414T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2642;p3_1000G_AF=0.527556;p3_1000G_AFR_AF=0.59;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=16443;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53271225;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:434,42,0
chr1	52857820	rs10788945	C	A	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.644;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=7.181;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=1.51;SOR=0.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10788945;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ZYG11A|ZYG11A|transcript|NM_001004339.2|protein_coding|3/13|c.1008+71C>A||||||,A|intron_variant|MODIFIER|ZYG11A|ZYG11A|transcript|NM_001307931.1|protein_coding|2/12|c.-18-2911C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4537;p3_1000G_AF=0.90595;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=16557;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53323492;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8947;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,17:28:99:400,0,350
chr1	52899236	rs3216045;rs397840176;rs145312975	CAA	C	897.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.176;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=4.388;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=-0.224;SOR=0.85;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3216045;dbSNPBuildID=132,138;ANN=C|downstream_gene_variant|MODIFIER|ZYG11A|ZYG11A|transcript|NM_001004339.2|protein_coding||c.*6280_*6281delAA|||||4662|,C|downstream_gene_variant|MODIFIER|ZYG11A|ZYG11A|transcript|NM_001307931.1|protein_coding||c.*6280_*6281delAA|||||4662|,C|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001198961.1|protein_coding|7/9|c.703-14_703-13delTT||||||,C|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001198962.1|protein_coding|6/7|c.610-1754_610-1753delTT||||||,C|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_018281.3|protein_coding|6/8|c.610-14_610-13delTT||||||,C|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001319958.1|protein_coding|7/9|c.472-14_472-13delTT||||||;p3_1000G_AC=615;p3_1000G_AF=0.122804;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=19366;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53364908;p3_1000G_GRCH37_REF=CAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=INDEL;ESP6500_AA_AC=934,3332;ESP6500_AA_GTC=107,720,1306;ESP6500_CDS_SIZES=NM_018281.3:786,NM_001198962.1:735,NM_001198961.1:879;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=73;ESP6500_EA_AC=279,7975;ESP6500_EA_GTC=6,267,3854;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018281.3:intron,NM_001198962.1:intron,NM_001198961.1:intron;ESP6500_GL=ECHDC2;ESP6500_GRCh38_POSITION=1:52899236;ESP6500_GTC=113,987,5160;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018281.3:c.610-14_610-13del2,NM_001198962.1:c.610-1754_610-1753del2,NM_001198961.1:c.703-14_703-13del2;ESP6500_MAF=3.3802,21.894,9.6885;ESP6500_TAC=1213,11307	GT:AD:DP:GQ:PL	0/1:20,24:44:99:935,0,733
chr1	52899304	rs576891	A	G	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.196;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-0.094;SOR=0.435;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs576891;dbSNPBuildID=83;ANN=G|downstream_gene_variant|MODIFIER|ZYG11A|ZYG11A|transcript|NM_001004339.2|protein_coding||c.*6347A>G|||||4729|,G|downstream_gene_variant|MODIFIER|ZYG11A|ZYG11A|transcript|NM_001307931.1|protein_coding||c.*6347A>G|||||4729|,G|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001198961.1|protein_coding|7/9|c.703-80T>C||||||,G|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001198962.1|protein_coding|6/7|c.610-1820T>C||||||,G|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_018281.3|protein_coding|6/8|c.610-80T>C||||||,G|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001319958.1|protein_coding|7/9|c.472-80T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2945;p3_1000G_AF=0.588059;p3_1000G_AFR_AF=0.8911;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=21111;p3_1000G_EAS_AF=0.256;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53364976;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,11:28:99:278,0,502
chr1	52911453	rs2275758	G	A	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.591;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=6.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.306;SOR=3.312;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275758;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001198961.1|protein_coding|3/9|c.277+113C>T||||||,A|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001198962.1|protein_coding|3/7|c.277+113C>T||||||,A|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_018281.3|protein_coding|3/8|c.277+113C>T||||||,A|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001319958.1|protein_coding|4/9|c.139+113C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=282;p3_1000G_AF=0.0563099;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=18363;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53377125;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,8:17:99:0|1:52911453_G_A:200,0,335
chr1	52911462	.	G	A	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.259;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=6.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.072;SOR=0.03;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001198961.1|protein_coding|3/9|c.277+104C>T||||||,A|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001198962.1|protein_coding|3/7|c.277+104C>T||||||,A|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_018281.3|protein_coding|3/8|c.277+104C>T||||||,A|intron_variant|MODIFIER|ECHDC2|ECHDC2|transcript|NM_001319958.1|protein_coding|4/9|c.139+104C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,9:18:99:1|0:52911453_G_A:213,0,344
chr1	52961469	rs139280584	C	G	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.733;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=-0.893;SOR=1.15;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139280584;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding|5/15|c.397-34C>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007098.2|protein_coding|4/10|c.265-34C>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding|4/14|c.325-34C>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding|4/14|c.265-34C>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding|4/14|c.154-34C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17368;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53427141;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,16:50:99:395,0,962
chr1	52976704	rs41294530;284473	A	G	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.574;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.108;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41294530;dbSNPBuildID=127;ANN=G|synonymous_variant|LOW|SCP2|SCP2|transcript|NM_002979.4|protein_coding|8/16|c.609A>G|p.Glu203Glu|777/2725|609/1644|203/547||,G|synonymous_variant|LOW|SCP2|SCP2|transcript|NM_001007098.2|protein_coding|7/11|c.477A>G|p.Glu159Glu|645/2092|477/969|159/322||,G|synonymous_variant|LOW|SCP2|SCP2|transcript|NM_001193599.1|protein_coding|7/15|c.537A>G|p.Glu179Glu|705/2653|537/1572|179/523||,G|synonymous_variant|LOW|SCP2|SCP2|transcript|NM_001193600.1|protein_coding|7/15|c.477A>G|p.Glu159Glu|645/2593|477/1512|159/503||,G|synonymous_variant|LOW|SCP2|SCP2|transcript|NM_001193617.1|protein_coding|7/15|c.366A>G|p.Glu122Glu|719/2667|366/1401|122/466||;p3_1000G_AA=A|||;p3_1000G_AC=482;p3_1000G_AF=0.096246;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=18797;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53442376;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=575,3831;ESP6500_AA_AGE=253.4+/-259.3;ESP6500_AA_GTC=33,509,1661;ESP6500_CDS_SIZES=NM_002979.4:1644,NM_001193617.1:1401,NM_001193600.1:1512,NM_001193599.1:1572,NM_001007098.2:969;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=98;ESP6500_EA_AC=242,8356;ESP6500_EA_AGE=95.6+/-157.4;ESP6500_EA_GTC=4,234,4061;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002979.4:coding-synonymous,NM_001193617.1:coding-synonymous,NM_001193600.1:coding-synonymous,NM_001193599.1:coding-synonymous,NM_001007098.2:coding-synonymous;ESP6500_GL=SCP2;ESP6500_GRCh38_POSITION=1:52976704;ESP6500_GTC=37,743,5722;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002979.4:c.609A>G,NM_001193617.1:c.366A>G,NM_001193600.1:c.477A>G,NM_001193599.1:c.537A>G,NM_001007098.2:c.477A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002979.4:p.(E203),NM_001193617.1:p.(E122),NM_001193600.1:p.(E159),NM_001193599.1:p.(E179),NM_001007098.2:p.(E159);ESP6500_MAF=2.8146,13.0504,6.2827;ESP6500_TAC=817,12187;CLINVAR_AF_ESP=0.0628;CLINVAR_AF_EXAC=0.05372;CLINVAR_AF_TGP=0.0963;CLINVAR_ALLELEID=268710;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.52976704A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCP2:6342;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=41294530	GT:AD:DP:GQ:PL	0/1:12,15:27:99:484,0,282
chr1	52987968	rs7528565	A	G	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.976;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.461;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7528565;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding|10/15|c.974-61A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007098.2|protein_coding|9/10|c.842-61A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding|9/14|c.902-61A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding|9/14|c.842-61A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding|9/14|c.731-61A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1982;p3_1000G_AF=0.395767;p3_1000G_AFR_AF=0.7859;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=16430;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53453640;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:144,0,174
chr1	52988011	rs7516939	C	T	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.761;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=2.32;SOR=0.777;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7516939;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding|10/15|c.974-18C>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007098.2|protein_coding|9/10|c.842-18C>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding|9/14|c.902-18C>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding|9/14|c.842-18C>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding|9/14|c.731-18C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2014;p3_1000G_AF=0.402157;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=15792;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.0984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53453683;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3001,1403;ESP6500_AA_AGE=437.6+/-345.0;ESP6500_AA_GTC=1044,913,245;ESP6500_CDS_SIZES=NM_002979.4:1644,NM_001193617.1:1401,NM_001193600.1:1512,NM_001193599.1:1572,NM_001007098.2:969;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=47;ESP6500_EA_AC=1031,7569;ESP6500_EA_AGE=766.9+/-407.6;ESP6500_EA_GTC=62,907,3331;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002979.4:intron,NM_001193617.1:intron,NM_001193600.1:intron,NM_001193599.1:intron,NM_001007098.2:intron;ESP6500_GL=SCP2;ESP6500_GRCh38_POSITION=1:52988011;ESP6500_GTC=1106,1820,3576;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002979.4:c.974-18C>T,NM_001193617.1:c.731-18C>T,NM_001193600.1:c.842-18C>T,NM_001193599.1:c.902-18C>T,NM_001007098.2:c.842-18C>T;ESP6500_MAF=11.9884,31.8574,31.0058;ESP6500_TAC=4032,8972	GT:AD:DP:GQ:PL	0/1:11,9:20:99:180,0,261
chr1	53015073	rs7529265	G	A	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.208;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.21;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7529265;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding|12/15|c.1235+30G>A||||||,A|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding|11/14|c.1163+30G>A||||||,A|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding|11/14|c.1103+30G>A||||||,A|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding|11/14|c.992+30G>A||||||,A|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007099.2|protein_coding|1/4|c.23+30G>A||||||,A|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007100.2|protein_coding|1/4|c.23+30G>A||||||,A|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007250.2|protein_coding|1/3|c.23+30G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1040;p3_1000G_AF=0.207668;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=19944;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.0606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53480745;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1092,3314;ESP6500_AA_AGE=721.6+/-409.2;ESP6500_AA_GTC=143,806,1254;ESP6500_CDS_SIZES=NM_002979.4:1644,NM_001193617.1:1401,NM_001193600.1:1512,NM_001193599.1:1572,NM_001007250.2:180,NM_001007100.2:423,NM_001007099.2:432;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=116;ESP6500_EA_AC=592,8008;ESP6500_EA_AGE=792.7+/-407.5;ESP6500_EA_GTC=21,550,3729;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002979.4:intron,NM_001193617.1:intron,NM_001193600.1:intron,NM_001193599.1:intron,NM_001007250.2:intron,NM_001007100.2:intron,NM_001007099.2:intron;ESP6500_GL=SCP2;ESP6500_GRCh38_POSITION=1:53015073;ESP6500_GTC=164,1356,4983;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002979.4:c.1235+30G>A,NM_001193617.1:c.992+30G>A,NM_001193600.1:c.1103+30G>A,NM_001193599.1:c.1163+30G>A,NM_001007250.2:c.23+30G>A,NM_001007100.2:c.23+30G>A,NM_001007099.2:c.23+30G>A;ESP6500_MAF=6.8837,24.7844,12.9479;ESP6500_TAC=1684,11322	GT:AD:DP:GQ:PL	0/1:23,22:45:99:592,0,587
chr1	53027953	rs17107640	A	G	180.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=8.022;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=0.662;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17107640;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding|12/15|c.1236-16A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding|11/14|c.1164-16A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding|11/14|c.1104-16A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding|11/14|c.993-16A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007099.2|protein_coding|1/4|c.24-16A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007100.2|protein_coding|1/4|c.24-25A>G||||||,G|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007250.2|protein_coding|1/3|c.24-16A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1009;p3_1000G_AF=0.201478;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=17639;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.0606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53493625;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=999,3407;ESP6500_AA_AGE=709.8+/-407.8;ESP6500_AA_GTC=122,755,1326;ESP6500_CDS_SIZES=NM_002979.4:1644,NM_001193617.1:1401,NM_001193600.1:1512,NM_001193599.1:1572,NM_001007250.2:180,NM_001007100.2:423,NM_001007099.2:432;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=40;ESP6500_EA_AC=591,8009;ESP6500_EA_AGE=788.4+/-407.6;ESP6500_EA_GTC=21,549,3730;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002979.4:intron,NM_001193617.1:intron,NM_001193600.1:intron,NM_001193599.1:intron,NM_001007250.2:intron,NM_001007100.2:intron,NM_001007099.2:intron;ESP6500_GL=SCP2;ESP6500_GRCh38_POSITION=1:53027953;ESP6500_GTC=143,1304,5056;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002979.4:c.1236-16A>G,NM_001193617.1:c.993-16A>G,NM_001193600.1:c.1104-16A>G,NM_001193599.1:c.1164-16A>G,NM_001007250.2:c.24-16A>G,NM_001007100.2:c.24-25A>G,NM_001007099.2:c.24-16A>G;ESP6500_MAF=6.8721,22.6736,12.2251;ESP6500_TAC=1590,11416	GT:AD:DP:GQ:PL	0/1:12,8:20:99:209,0,288
chr1	53028150	rs17107643	G	T	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.566;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17107643;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding|13/15|c.1338+79G>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding|12/14|c.1266+79G>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding|12/14|c.1206+79G>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding|12/14|c.1095+79G>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007099.2|protein_coding|2/4|c.126+79G>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007100.2|protein_coding|2/4|c.117+79G>T||||||,T|intron_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007250.2|protein_coding|2/3|c.126+79G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1009;p3_1000G_AF=0.201478;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=16036;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53493822;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:121,0,101
chr1	53053546	rs10888762	C	T	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.315;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.45;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888762;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding||c.*2842C>T|||||1929|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding||c.*2842C>T|||||1929|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding||c.*2842C>T|||||1929|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding||c.*2842C>T|||||1929|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007099.2|protein_coding||c.*2842C>T|||||1929|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007100.2|protein_coding||c.*2842C>T|||||1929|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007250.2|protein_coding||c.*5635C>T|||||1929|,T|intergenic_region|MODIFIER|SCP2-PODN|SCP2-PODN|intergenic_region|SCP2-PODN|||n.53053546C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=2038;p3_1000G_AF=0.406949;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=19990;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.1024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53519218;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:262,0,221
chr1	53053598	rs10888763	C	T	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.794;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888763;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding||c.*2894C>T|||||1981|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding||c.*2894C>T|||||1981|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding||c.*2894C>T|||||1981|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding||c.*2894C>T|||||1981|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007099.2|protein_coding||c.*2894C>T|||||1981|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007100.2|protein_coding||c.*2894C>T|||||1981|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007250.2|protein_coding||c.*5687C>T|||||1981|,T|intergenic_region|MODIFIER|SCP2-PODN|SCP2-PODN|intergenic_region|SCP2-PODN|||n.53053598C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2038;p3_1000G_AF=0.406949;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=19278;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.1024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53519270;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,13:23:99:321,0,207
chr1	53055064	rs17107774	C	T	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.925;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17107774;dbSNPBuildID=123;ANN=T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_002979.4|protein_coding||c.*4360C>T|||||3447|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193599.1|protein_coding||c.*4360C>T|||||3447|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193600.1|protein_coding||c.*4360C>T|||||3447|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001193617.1|protein_coding||c.*4360C>T|||||3447|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007099.2|protein_coding||c.*4360C>T|||||3447|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007100.2|protein_coding||c.*4360C>T|||||3447|,T|downstream_gene_variant|MODIFIER|SCP2|SCP2|transcript|NM_001007250.2|protein_coding||c.*7153C>T|||||3447|,T|intergenic_region|MODIFIER|SCP2-PODN|SCP2-PODN|intergenic_region|SCP2-PODN|||n.53055064C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1014;p3_1000G_AF=0.202476;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=16005;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53520736;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,9:21:99:195,0,345
chr1	53062276	rs7513730	T	G	107.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.58;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7513730;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|PODN|PODN|transcript|NM_153703.4|protein_coding|1/11|c.57T>G|p.Pro19Pro|225/3171|57/1986|19/661||,G|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199082.1|protein_coding|1/7|c.57T>G|p.Pro19Pro|225/2745|57/1560|19/519||,G|5_prime_UTR_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding|1/13|c.-247T>G|||||4560|,G|5_prime_UTR_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding|1/12|c.-57T>G|||||4560|;p3_1000G_AA=G|||;p3_1000G_AC=2040;p3_1000G_AF=0.407348;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=5598;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.1024;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53527948;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2348,1734;ESP6500_AA_GTC=691,966,384;ESP6500_CDS_SIZES=NM_153703.4:1986,NM_001199082.1:1560,NM_001199081.1:1929,NM_001199080.1:1929;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=7;ESP6500_EA_AC=849,7315;ESP6500_EA_GTC=54,741,3287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153703.4:coding-synonymous,NM_001199082.1:coding-synonymous,NM_001199081.1:utr-5,NM_001199080.1:utr-5;ESP6500_GL=PODN;ESP6500_GRCh38_POSITION=1:53062276;ESP6500_GTC=745,1707,3671;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_153703.4:c.57T>G,NM_001199082.1:c.57T>G,NM_001199081.1:c.-4560T>G,NM_001199080.1:c.-4560T>G;ESP6500_HGVS_PROTEIN_VAR=NM_153703.4:p.(P19),NM_001199082.1:p.(P19),.,.;ESP6500_MAF=10.3993,42.4792,26.1065;ESP6500_TAC=3197,9049	GT:AD:DP:GQ:PL	1/1:0,5:5:15:136,15,0
chr1	53062324	rs56054926	A	G	102.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56054926;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding|1/10|c.89+16A>G||||||,G|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding|1/12|c.-215+16A>G||||||,G|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding|1/11|c.-25+16A>G||||||,G|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding|1/6|c.89+16A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2039;p3_1000G_AF=0.407149;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=4934;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53527996;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1072,1520;ESP6500_AA_GTC=212,648,436;ESP6500_CDS_SIZES=NM_153703.4:1986,NM_001199082.1:1560,NM_001199081.1:1929,NM_001199080.1:1929;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=3;ESP6500_EA_AC=423,6053;ESP6500_EA_GTC=20,383,2835;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153703.4:intron,NM_001199082.1:intron,NM_001199081.1:intron,NM_001199080.1:intron;ESP6500_GL=PODN;ESP6500_GRCh38_POSITION=1:53062324;ESP6500_GTC=232,1031,3271;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153703.4:c.89+16A>G,NM_001199082.1:c.89+16A>G,NM_001199081.1:c.-4512A>G,NM_001199080.1:c.-4512A>G;ESP6500_MAF=6.5318,41.358,16.4865;ESP6500_TAC=1495,7573	GT:AD:DP:GQ:PL	1/1:0,4:4:12:130,12,0
chr1	53066863	rs17107806	G	C	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.417;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=8.141;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.338;SOR=2.007;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17107806;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|PODN|PODN|transcript|NM_001199080.2|protein_coding|3/13|c.28G>C|p.Ala10Pro|499/3417|28/1929|10/642||,C|missense_variant|MODERATE|PODN|PODN|transcript|NM_001199081.2|protein_coding|2/12|c.28G>C|p.Ala10Pro|309/3227|28/1929|10/642||,C|intron_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding|1/10|c.90-2938G>C||||||,C|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding|1/6|c.90-2938G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=645;p3_1000G_AF=0.128794;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=19650;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53532535;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:295,0,296
chr1	53069806	rs1288386	G	A	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.989;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.153;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.261;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1288386;dbSNPBuildID=87;ANN=A|missense_variant|MODERATE|PODN|PODN|transcript|NM_153703.4|protein_coding|2/11|c.95G>A|p.Arg32His|263/3171|95/1986|32/661||,A|missense_variant|MODERATE|PODN|PODN|transcript|NM_001199080.2|protein_coding|4/13|c.38G>A|p.Arg13His|509/3417|38/1929|13/642||,A|missense_variant|MODERATE|PODN|PODN|transcript|NM_001199081.2|protein_coding|3/12|c.38G>A|p.Arg13His|319/3227|38/1929|13/642||,A|missense_variant|MODERATE|PODN|PODN|transcript|NM_001199082.1|protein_coding|2/7|c.95G>A|p.Arg32His|263/2745|95/1560|32/519||;p3_1000G_AA=G|||;p3_1000G_AC=1790;p3_1000G_AF=0.357428;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=16566;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53535478;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.41;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=788,3482;ESP6500_AA_GTC=113,562,1460;ESP6500_CDS_SIZES=NM_153703.4:1986,NM_001199082.1:1560,NM_001199081.1:1929,NM_001199080.1:1929;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=10;ESP6500_EA_AC=3534,4878;ESP6500_EA_GTC=798,1938,1470;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153703.4:missense,NM_001199082.1:missense,NM_001199081.1:missense,NM_001199080.1:missense;ESP6500_GL=PODN;ESP6500_GRCh38_POSITION=1:53069806;ESP6500_GS=29,29,29,29;ESP6500_GTC=911,2500,2930;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153703.4:c.95G>A,NM_001199082.1:c.95G>A,NM_001199081.1:c.38G>A,NM_001199080.1:c.38G>A;ESP6500_HGVS_PROTEIN_VAR=NM_153703.4:p.(R32H),NM_001199082.1:p.(R32H),NM_001199081.1:p.(R13H),NM_001199080.1:p.(R13H);ESP6500_MAF=42.0114,18.4543,34.0798;ESP6500_PH=benign:0.345,benign:0.345,benign:0.345,benign:0.345;ESP6500_TAC=4322,8360	GT:AD:DP:GQ:PL	0/1:18,18:36:99:488,0,450
chr1	53071594	rs1769316	G	A	1546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1769316;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|PODN|PODN|transcript|NM_153703.4|protein_coding|3/11|c.516G>A|p.Thr172Thr|684/3171|516/1986|172/661||,A|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199080.2|protein_coding|5/13|c.459G>A|p.Thr153Thr|930/3417|459/1929|153/642||,A|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199081.2|protein_coding|4/12|c.459G>A|p.Thr153Thr|740/3227|459/1929|153/642||,A|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding|2/6|c.456+1427G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2785;p3_1000G_AF=0.55611;p3_1000G_AFR_AF=0.4977;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=16244;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.4652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53537266;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2302,2102;ESP6500_AA_AGE=590.8+/-387.4;ESP6500_AA_GTC=618,1066,518;ESP6500_CDS_SIZES=NM_153703.4:1986,NM_001199082.1:1560,NM_001199081.1:1929,NM_001199080.1:1929;ESP6500_CG=-10.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=42;ESP6500_EA_AC=4034,4566;ESP6500_EA_AGE=551.1+/-385.9;ESP6500_EA_GTC=938,2158,1204;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153703.4:coding-synonymous,NM_001199082.1:intron,NM_001199081.1:coding-synonymous,NM_001199080.1:coding-synonymous;ESP6500_GL=PODN;ESP6500_GRCh38_POSITION=1:53071594;ESP6500_GTC=1556,3224,1722;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153703.4:c.516G>A,NM_001199082.1:c.456+1427G>A,NM_001199081.1:c.459G>A,NM_001199080.1:c.459G>A;ESP6500_HGVS_PROTEIN_VAR=NM_153703.4:p.(T172),.,NM_001199081.1:p.(T153),NM_001199080.1:p.(T153);ESP6500_MAF=46.907,47.7293,48.7235;ESP6500_TAC=6336,6668	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1575,156,0
chr1	53077121	rs899972	G	T	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.989;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.54;ReadPosRankSum=1.09;SOR=0.141;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs899972;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding|5/10|c.726-69G>T||||||,T|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding|7/12|c.669-69G>T||||||,T|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding|6/11|c.669-69G>T||||||,T|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding|2/6|c.457-564G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=562;p3_1000G_AF=0.11222;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=18122;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53542793;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,8:20:99:159,0,414
chr1	53077440	rs946590	C	G	440.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.795;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=1.18;SOR=0.395;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs946590;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding|6/10|c.882+94C>G||||||,G|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding|8/12|c.825+94C>G||||||,G|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding|7/11|c.825+94C>G||||||,G|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding|2/6|c.457-245C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4175;p3_1000G_AF=0.833666;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=16516;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.9513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53543112;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,15:30:99:0|1:53077440_C_G:469,0,617
chr1	53077448	.	G	C	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-0.488;SOR=1.022;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding|6/10|c.882+102G>C||||||,C|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding|8/12|c.825+102G>C||||||,C|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding|7/11|c.825+102G>C||||||,C|intron_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding|2/6|c.457-237G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,14:29:99:1|0:53077440_C_G:502,0,588
chr1	53078617	rs11206087	C	T	1933.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.565;ClippingRankSum=0;DP=139;ExcessHet=3.0103;FS=1.351;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.47;SOR=0.547;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11206087;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|PODN|PODN|transcript|NM_153703.4|protein_coding|8/11|c.1251C>T|p.Asn417Asn|1419/3171|1251/1986|417/661||,T|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199080.2|protein_coding|10/13|c.1194C>T|p.Asn398Asn|1665/3417|1194/1929|398/642||,T|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199081.2|protein_coding|9/12|c.1194C>T|p.Asn398Asn|1475/3227|1194/1929|398/642||,T|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199082.1|protein_coding|4/7|c.825C>T|p.Asn275Asn|993/2745|825/1560|275/519||;p3_1000G_AA=C|||;p3_1000G_AC=641;p3_1000G_AF=0.127995;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=19698;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53544289;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=318,4088;ESP6500_AA_AGE=169.1+/-199.8;ESP6500_AA_GTC=15,288,1900;ESP6500_CDS_SIZES=NM_153703.4:1986,NM_001199082.1:1560,NM_001199081.1:1929,NM_001199080.1:1929;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=72;ESP6500_EA_AC=409,8191;ESP6500_EA_AGE=128.8+/-187.0;ESP6500_EA_GTC=10,389,3901;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153703.4:coding-synonymous,NM_001199082.1:coding-synonymous,NM_001199081.1:coding-synonymous,NM_001199080.1:coding-synonymous;ESP6500_GL=PODN;ESP6500_GRCh38_POSITION=1:53078617;ESP6500_GTC=25,677,5801;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153703.4:c.1251C>T,NM_001199082.1:c.825C>T,NM_001199081.1:c.1194C>T,NM_001199080.1:c.1194C>T;ESP6500_HGVS_PROTEIN_VAR=NM_153703.4:p.(N417),NM_001199082.1:p.(N275),NM_001199081.1:p.(N398),NM_001199080.1:p.(N398);ESP6500_MAF=4.7558,7.2174,5.5897;ESP6500_TAC=727,12279	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1962,0,1895
chr1	53082128	rs6687909	A	G	786.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.819;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=4.297;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-1.138;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6687909;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|PODN|PODN|transcript|NM_153703.4|protein_coding|10/11|c.1953A>G|p.Glu651Glu|2121/3171|1953/1986|651/661||,G|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199080.2|protein_coding|12/13|c.1896A>G|p.Glu632Glu|2367/3417|1896/1929|632/642||,G|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199081.2|protein_coding|11/12|c.1896A>G|p.Glu632Glu|2177/3227|1896/1929|632/642||,G|synonymous_variant|LOW|PODN|PODN|transcript|NM_001199082.1|protein_coding|6/7|c.1527A>G|p.Glu509Glu|1695/2745|1527/1560|509/519||;p3_1000G_AA=A|||;p3_1000G_AC=1077;p3_1000G_AF=0.215056;p3_1000G_AFR_AF=0.3918;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=19205;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53547800;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1216,3190;ESP6500_AA_GTC=217,782,1204;ESP6500_CDS_SIZES=NM_153703.4:1986,NM_001199082.1:1560,NM_001199081.1:1929,NM_001199080.1:1929;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=49;ESP6500_EA_AC=101,8499;ESP6500_EA_GTC=0,101,4199;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153703.4:coding-synonymous,NM_001199082.1:coding-synonymous,NM_001199081.1:coding-synonymous,NM_001199080.1:coding-synonymous;ESP6500_GL=PODN;ESP6500_GRCh38_POSITION=1:53082128;ESP6500_GTC=217,883,5403;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153703.4:c.1953A>G,NM_001199082.1:c.1527A>G,NM_001199081.1:c.1896A>G,NM_001199080.1:c.1896A>G;ESP6500_HGVS_PROTEIN_VAR=NM_153703.4:p.(E651),NM_001199082.1:p.(E509),NM_001199081.1:p.(E632),NM_001199080.1:p.(E632);ESP6500_MAF=1.1744,27.5987,10.1261;ESP6500_TAC=1317,11689	GT:AD:DP:GQ:PL	0/1:48,34:82:99:815,0,1234
chr1	53087966	rs140025278;rs3214949	CCCTGCCCCTGGAGGCCTCG	C	118.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0;SOR=1.981;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3214949,rs140025278;dbSNPBuildID=134,106;ANN=C|3_prime_UTR_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|11/11|c.*24_*42delCGAGGCCTCCAGGGGCAGG|||||24|,C|3_prime_UTR_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|10/10|c.*91_*109delCGAGGCCTCCAGGGGCAGG|||||91|,C|3_prime_UTR_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|11/11|c.*24_*42delCGAGGCCTCCAGGGGCAGG|||||24|,C|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding||c.*5806_*5824delCCTGCCCCTGGAGGCCTCG|||||2465|,C|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding||c.*5806_*5824delCCTGCCCCTGGAGGCCTCG|||||2465|,C|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding||c.*5806_*5824delCCTGCCCCTGGAGGCCTCG|||||2465|,C|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding||c.*5806_*5824delCCTGCCCCTGGAGGCCTCG|||||2465|,C|non_coding_transcript_exon_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|11/11|n.1862_1880delCGAGGCCTCCAGGGGCAGG||||||;p3_1000G_AC=654;p3_1000G_AF=0.130591;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=20355;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.0477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53553638;p3_1000G_GRCH37_REF=CCCTGCCCCTGGAGGCCTCG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=INDEL;ESP6500_AA_AC=160,4102;ESP6500_AA_GTC=4,152,1975;ESP6500_CDS_SIZES=NM_006671.4:1683;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=19;ESP6500_EA_AC=386,7866;ESP6500_EA_GTC=28,330,3768;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006671.4:utr-3;ESP6500_GL=SLC1A7;ESP6500_GRCh38_POSITION=1:53087966;ESP6500_GTC=32,482,5743;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006671.4:c.*24_*42del19;ESP6500_MAF=4.6777,3.7541,4.3631;ESP6500_TAC=546,11968	GT:AD:DP:GQ:PL	0/1:4,4:8:99:156,0,156
chr1	53088030	rs1288400	A	G	355.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1288400;dbSNPBuildID=87;ANN=G|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|11/11|c.1839T>C|p.Ser613Ser|2022/2873|1839/1860|613/619||,G|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|11/11|c.1662T>C|p.Ser554Ser|1845/2696|1662/1683|554/560||,G|3_prime_UTR_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|10/10|c.*46T>C|||||46|,G|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding||c.*5869A>G|||||2528|,G|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding||c.*5869A>G|||||2528|,G|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding||c.*5869A>G|||||2528|,G|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding||c.*5869A>G|||||2528|,G|non_coding_transcript_exon_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|11/11|n.1817T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=4722;p3_1000G_AF=0.942891;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17314;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53553702;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3672,734;ESP6500_AA_AGE=754.3+/-412.4;ESP6500_AA_GTC=1530,612,61;ESP6500_CDS_SIZES=NM_006671.4:1683;ESP6500_CG=-10.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=42;ESP6500_EA_AC=8590,10;ESP6500_EA_AGE=817.9+/-406.9;ESP6500_EA_GTC=4290,10,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006671.4:coding-synonymous;ESP6500_GL=SLC1A7;ESP6500_GRCh38_POSITION=1:53088030;ESP6500_GTC=5820,622,61;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006671.4:c.1662T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006671.4:p.(S554);ESP6500_MAF=0.1163,16.6591,5.7204;ESP6500_TAC=12262,744	GT:AD:DP:GQ:PL	1/1:0,13:13:39:384,39,0
chr1	53089008	rs3816744	T	C	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=8.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.202;SOR=1.758;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816744;dbSNPBuildID=107;ANN=C|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding||c.*6847T>C|||||3506|,C|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding||c.*6847T>C|||||3506|,C|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding||c.*6847T>C|||||3506|,C|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding||c.*6847T>C|||||3506|,C|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|9/10|c.1539-29A>G||||||,C|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|8/9|c.1146-29A>G||||||,C|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|9/10|c.1362-29A>G||||||,C|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|9/10|n.1517-29A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=617;p3_1000G_AF=0.123203;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=19536;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.0477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53554680;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=86,4320;ESP6500_AA_AGE=70.9+/-108.8;ESP6500_AA_GTC=1,84,2118;ESP6500_CDS_SIZES=NM_006671.4:1683;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=46;ESP6500_EA_AC=408,8192;ESP6500_EA_AGE=128.5+/-186.7;ESP6500_EA_GTC=11,386,3903;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006671.4:intron;ESP6500_GL=SLC1A7;ESP6500_GRCh38_POSITION=1:53089008;ESP6500_GTC=12,470,6021;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006671.4:c.1362-29A>G;ESP6500_MAF=4.7442,1.9519,3.7982;ESP6500_TAC=494,12512	GT:AD:DP:GQ:PL	0/1:25,27:52:99:673,0,565
chr1	53089064	rs58600784	C	T	576.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.848;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.13;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58600784;dbSNPBuildID=129;ANN=T|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_153703.4|protein_coding||c.*6903C>T|||||3562|,T|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199080.2|protein_coding||c.*6903C>T|||||3562|,T|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199081.2|protein_coding||c.*6903C>T|||||3562|,T|downstream_gene_variant|MODIFIER|PODN|PODN|transcript|NM_001199082.1|protein_coding||c.*6903C>T|||||3562|,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|9/10|c.1539-85G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|8/9|c.1146-85G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|9/10|c.1362-85G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|9/10|n.1517-85G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1044;p3_1000G_AF=0.208466;p3_1000G_AFR_AF=0.388;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=17988;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.0139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53554736;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,23:39:99:605,0,422
chr1	53090860	rs2306461	G	A	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.305;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=1.49;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306461;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|8/11|c.1155C>T|p.Gly385Gly|1338/2873|1155/1860|385/619||,A|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|6/9|c.816-54C>T||||||,A|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|7/10|c.1032-54C>T||||||,A|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|7/10|n.1215-82C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=830;p3_1000G_AF=0.165735;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=16145;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.0139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53556532;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,13:40:99:315,0,815
chr1	53092598	rs1288406	A	G	938.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.37;SOR=2.546;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1288406;dbSNPBuildID=87;ANN=G|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|7/11|c.987T>C|p.Arg329Arg|1170/2873|987/1860|329/619||,G|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|6/10|c.771T>C|p.Arg257Arg|954/2499|771/1419|257/472||,G|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|7/11|c.987T>C|p.Arg329Arg|1170/2696|987/1683|329/560||,G|non_coding_transcript_exon_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|7/11|n.1170T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4237;p3_1000G_AF=0.846046;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=16870;p3_1000G_EAS_AF=0.9544;p3_1000G_EUR_AF=0.835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53558270;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3355,1051;ESP6500_AA_AGE=384.9+/-325.5;ESP6500_AA_GTC=1268,819,116;ESP6500_CDS_SIZES=NM_006671.4:1683;ESP6500_CG=-10.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=76;ESP6500_EA_AC=7226,1374;ESP6500_EA_AGE=266.1+/-286.5;ESP6500_EA_GTC=3038,1150,112;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006671.4:coding-synonymous;ESP6500_GL=SLC1A7;ESP6500_GRCh38_POSITION=1:53092598;ESP6500_GTC=4306,1969,228;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006671.4:c.987T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006671.4:p.(R329);ESP6500_MAF=15.9767,23.8538,18.6452;ESP6500_TAC=10581,2425	GT:AD:DP:GQ:PL	1/1:0,29:29:87:967,87,0
chr1	53092694	rs12129653	T	C	586.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.609;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0.942;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.335;SOR=0.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12129653;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|7/11|c.891A>G|p.Ser297Ser|1074/2873|891/1860|297/619||,C|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|6/10|c.675A>G|p.Ser225Ser|858/2499|675/1419|225/472||,C|synonymous_variant|LOW|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|7/11|c.891A>G|p.Ser297Ser|1074/2696|891/1683|297/560||,C|non_coding_transcript_exon_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|7/11|n.1074A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=729;p3_1000G_AF=0.145567;p3_1000G_AFR_AF=0.0779;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=17255;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53558366;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=365,4041;ESP6500_AA_AGE=793.1+/-415.2;ESP6500_AA_GTC=12,341,1850;ESP6500_CDS_SIZES=NM_006671.4:1683;ESP6500_CG=-10.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=100;ESP6500_EA_AC=423,8177;ESP6500_EA_AGE=800.3+/-407.4;ESP6500_EA_GTC=12,399,3889;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006671.4:coding-synonymous;ESP6500_GL=SLC1A7;ESP6500_GRCh38_POSITION=1:53092694;ESP6500_GTC=24,740,5739;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006671.4:c.891A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006671.4:p.(S297);ESP6500_MAF=4.9186,8.2842,6.0587;ESP6500_TAC=788,12218	GT:AD:DP:GQ:PL	0/1:36,29:65:99:615,0,844
chr1	53092849	rs12140504	C	T	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.381;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.257;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12140504;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|6/10|c.798-62G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|5/9|c.582-62G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|6/10|c.798-62G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|6/10|n.981-62G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=620;p3_1000G_AF=0.123802;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=13336;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.0477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53558521;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:182,0,422
chr1	53093575	rs12045217	C	T	602.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.149;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.056;SOR=1.129;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12045217;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|5/10|c.698-15G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|4/9|c.482-15G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|5/10|c.698-15G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|5/10|n.881-15G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=619;p3_1000G_AF=0.123602;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=17136;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.0477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53559247;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA_AC=79,4323;ESP6500_AA_GTC=1,77,2123;ESP6500_CDS_SIZES=NM_006671.4:1683;ESP6500_CG=2.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=25;ESP6500_EA_AC=402,8196;ESP6500_EA_GTC=11,380,3908;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006671.4:intron;ESP6500_GL=SLC1A7;ESP6500_GRCh38_POSITION=1:53093575;ESP6500_GTC=12,457,6031;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006671.4:c.698-15G>A;ESP6500_MAF=4.6755,1.7946,3.7;ESP6500_TAC=481,12519	GT:AD:DP:GQ:PL	0/1:21,24:45:99:631,0,663
chr1	53093638	rs11206091	T	C	865.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11206091;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|5/10|c.698-78A>G||||||,C|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|4/9|c.482-78A>G||||||,C|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|5/10|c.698-78A>G||||||,C|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|5/10|n.881-78A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=4160;p3_1000G_AF=0.830671;p3_1000G_AFR_AF=0.6755;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=2638;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.836;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53559310;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:894,63,0
chr1	53103727	rs1288420	A	G	774.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1288420;dbSNPBuildID=87;ANN=G|downstream_gene_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287596.1|protein_coding||c.*4862T>C|||||4201|,G|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|4/10|c.475-159T>C||||||,G|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|3/9|c.259-159T>C||||||,G|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|4/10|c.475-159T>C||||||,G|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|4/10|n.658-159T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4364;p3_1000G_AF=0.871406;p3_1000G_AFR_AF=0.82;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=19628;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53569399;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8374;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:803,72,0
chr1	53103760	rs2242275	C	T	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.161;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.117;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242275;dbSNPBuildID=98;ANN=T|downstream_gene_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287596.1|protein_coding||c.*4829G>A|||||4168|,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|4/10|c.475-192G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|3/9|c.259-192G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|4/10|c.475-192G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|4/10|n.658-192G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=466;p3_1000G_AF=0.0930511;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=18521;p3_1000G_EAS_AF=0.2391;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53569432;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:202,0,340
chr1	53105616	rs1288422	C	G	405.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1288422;dbSNPBuildID=87;ANN=G|downstream_gene_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287596.1|protein_coding||c.*2973G>C|||||2312|,G|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|4/10|c.474+116G>C||||||,G|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|3/9|c.258+116G>C||||||,G|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|4/10|c.474+116G>C||||||,G|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|4/10|n.657+116G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4830;p3_1000G_AF=0.964457;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15857;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53571288;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:434,36,0
chr1	53108451	rs1769289	C	T	496.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1769289;dbSNPBuildID=89;ANN=T|3_prime_UTR_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287596.1|protein_coding|4/4|c.*138G>A|||||138|,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287595.1|protein_coding|3/10|c.432-2677G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_001287597.1|protein_coding|2/9|c.216-2677G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NM_006671.5|protein_coding|3/10|c.432-2677G>A||||||,T|intron_variant|MODIFIER|SLC1A7|SLC1A7|transcript|NR_109858.1|pseudogene|3/10|n.615-2677G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4834;p3_1000G_AF=0.965256;p3_1000G_AFR_AF=0.8843;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=20159;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53574123;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:525,42,0
chr1	53210776	rs1799821;92429	G	A	1736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=1.199;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1799821;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|CPT2|CPT2|transcript|NM_000098.2|protein_coding|4/5|c.1102G>A|p.Val368Ile|1617/3094|1102/1977|368/658||,A|downstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_017887.2|protein_coding||c.*3883C>T|||||3324|,A|downstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304759.1|protein_coding||c.*3883C>T|||||3324|,A|downstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304760.1|protein_coding||c.*3883C>T|||||3324|;p3_1000G_AA=G|||;p3_1000G_AC=2069;p3_1000G_AF=0.413139;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=20912;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53676448;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1278,3128;ESP6500_AA_AGE=436.1+/-344.5;ESP6500_AA_GTC=212,854,1137;ESP6500_CDS_SIZES=NM_000098.2:1977;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=52;ESP6500_EA_AC=4658,3942;ESP6500_EA_AGE=603.0+/-394.6;ESP6500_EA_GTC=1246,2166,888;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000098.2:missense;ESP6500_GL=CPT2;ESP6500_GRCh38_POSITION=1:53210776;ESP6500_GS=29;ESP6500_GTC=1458,3020,2025;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000098.2:c.1102G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000098.2:p.(V368I);ESP6500_MAF=45.8372,29.0059,45.6405;ESP6500_PH=benign:0.011;ESP6500_TAC=5936,7070;CLINVAR_AF_ESP=0.4564;CLINVAR_AF_EXAC=0.48413;CLINVAR_AF_TGP=0.4131;CLINVAR_ALLELEID=39074;CLINVAR_CLNDISDB=MedGen:C0342790,Orphanet:ORPHA157,SNOMED_CT:238002005|MedGen:CN169374;CLINVAR_CLNDISDBINCL=MedGen:C3280160,OMIM:614212,Orphanet:ORPHA263524;CLINVAR_CLNDN=Carnitine_palmitoyltransferase_II_deficiency|not_specified;CLINVAR_CLNDNINCL=Encephalopathy,_acute,_infection-induced,_4,_susceptibility_to;CLINVAR_CLNHGVS=NC_000001.11:g.53210776G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNSIGINCL=30118:risk_factor;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=HGMD:CM139511|Illumina_Clinical_Services_Laboratory,Illumina:1428|OMIM_Allelic_Variant:600650.0018|UniProtKB_(protein):P23786#VAR_001395;CLINVAR_GENEINFO=CPT2:1376;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1799821	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1765,168,0
chr1	53218249	rs12140585	C	G	1661.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12140585;dbSNPBuildID=120;ANN=G|downstream_gene_variant|MODIFIER|CPT2|CPT2|transcript|NM_000098.2|protein_coding||c.*4654C>G|||||4052|,G|downstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NR_130897.1|pseudogene||n.*1552G>C|||||1552|,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_017887.2|protein_coding|4/7|c.230-46G>C||||||,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304759.1|protein_coding|3/6|c.173-46G>C||||||,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304760.1|protein_coding|2/5|c.89-46G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1151;p3_1000G_AF=0.229832;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=21595;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.3111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53683921;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=448,3958;ESP6500_AA_AGE=782.0+/-414.5;ESP6500_AA_GTC=19,410,1774;ESP6500_CDS_SIZES=NM_017887.1:483;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=2715,5885;ESP6500_EA_AGE=679.0+/-403.5;ESP6500_EA_GTC=445,1825,2030;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017887.1:intron;ESP6500_GL=C1orf123;ESP6500_GRCh38_POSITION=1:53218249;ESP6500_GTC=464,2235,3804;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_017887.1:c.230-46G>C;ESP6500_MAF=31.5698,10.168,24.3195;ESP6500_TAC=3163,9843	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1690,135,0
chr1	53218652	rs3736118	A	G	1107.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3736118;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|CPT2|CPT2|transcript|NM_000098.2|protein_coding||c.*5057A>G|||||4455|,G|downstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NR_130897.1|pseudogene||n.*1149T>C|||||1149|,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_017887.2|protein_coding|3/7|c.148-157T>C||||||,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304759.1|protein_coding|2/6|c.91-157T>C||||||,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304760.1|protein_coding|1/5|c.7-157T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1150;p3_1000G_AF=0.229633;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=19632;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.3111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53684324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1136,84,0
chr1	53218853	rs436887	C	G	1779.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.23;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs436887;dbSNPBuildID=80;ANN=G|downstream_gene_variant|MODIFIER|CPT2|CPT2|transcript|NM_000098.2|protein_coding||c.*5258C>G|||||4656|,G|downstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NR_130897.1|pseudogene||n.*948G>C|||||948|,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_017887.2|protein_coding|3/7|c.147+14G>C||||||,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304759.1|protein_coding|2/6|c.91-358G>C||||||,G|intron_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304760.1|protein_coding|1/5|c.7-358G>C||||||;ESP6500_AA=-;ESP6500_AA_AC=4049,357;ESP6500_AA_GTC=1890,269,44;ESP6500_CDS_SIZES=NM_017887.1:483;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=105;ESP6500_EA_AC=5916,2684;ESP6500_EA_GTC=2039,1838,423;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017887.1:intron;ESP6500_GL=C1orf123;ESP6500_GRCh38_POSITION=1:53218853;ESP6500_GTC=3929,2107,467;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_017887.1:c.147+14G>C;ESP6500_MAF=31.2093,8.1026,23.3815;ESP6500_TAC=9965,3041	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1808,156,0
chr1	53220711	rs1679913	C	G	510.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1679913;dbSNPBuildID=89;ANN=G|upstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_017887.2|protein_coding||c.-136G>C|||||72|,G|upstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304759.1|protein_coding||c.-136G>C|||||72|,G|upstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NM_001304760.1|protein_coding||c.-136G>C|||||72|,G|upstream_gene_variant|MODIFIER|C1orf123|C1orf123|transcript|NR_130897.1|pseudogene||n.-72G>C|||||72|,G|intergenic_region|MODIFIER|C1orf123-MAGOH|C1orf123-MAGOH|intergenic_region|C1orf123-MAGOH|||n.53220711C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3994;p3_1000G_AF=0.797524;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=13772;p3_1000G_EAS_AF=0.9325;p3_1000G_EUR_AF=0.6789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53686383;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:539,45,0
chr1	53250744	rs3737983	G	A	612.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.844;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.052;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.658;SOR=0.885;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737983;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|LRP8|LRP8|transcript|NM_004631.4|protein_coding|17/19|c.2622C>T|p.Asp874Asp|2859/7777|2622/2892|874/963||,A|synonymous_variant|LOW|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|17/18|c.2622C>T|p.Asp874Asp|2859/7600|2622/2715|874/904||,A|synonymous_variant|LOW|LRP8|LRP8|transcript|NM_017522.4|protein_coding|15/16|c.2010C>T|p.Asp670Asp|2247/6988|2010/2103|670/700||,A|synonymous_variant|LOW|LRP8|LRP8|transcript|NM_033300.3|protein_coding|15/17|c.2112C>T|p.Asp704Asp|2349/7267|2112/2382|704/793||;p3_1000G_AA=A|||;p3_1000G_AC=1857;p3_1000G_AF=0.370807;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=21922;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.4076;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53716416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1178,3228;ESP6500_AA_AGE=711.3+/-408.0;ESP6500_AA_GTC=167,844,1192;ESP6500_CDS_SIZES=NM_033300.3:2382,NM_017522.4:2103,NM_004631.4:2892,NM_001018054.2:2715;ESP6500_CG=-2.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=331;ESP6500_EA_AC=3536,5064;ESP6500_EA_AGE=630.9+/-398.4;ESP6500_EA_GTC=733,2070,1497;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033300.3:coding-synonymous,NM_017522.4:coding-synonymous,NM_004631.4:coding-synonymous,NM_001018054.2:coding-synonymous;ESP6500_GL=LRP8;ESP6500_GRCh38_POSITION=1:53250744;ESP6500_GTC=900,2914,2689;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033300.3:c.2112C>T,NM_017522.4:c.2010C>T,NM_004631.4:c.2622C>T,NM_001018054.2:c.2622C>T;ESP6500_HGVS_PROTEIN_VAR=NM_033300.3:p.(D704),NM_017522.4:p.(D670),NM_004631.4:p.(D874),NM_001018054.2:p.(D874);ESP6500_MAF=41.1163,26.7363,36.2448;ESP6500_TAC=4714,8292	GT:AD:DP:GQ:PL	0/1:29,23:52:99:641,0,772
chr1	53257080	rs2297663	A	C	1943.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.27;ReadPosRankSum=-0.642;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297663;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_004631.4|protein_coding|15/18|c.2434+160T>G||||||,C|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|15/17|c.2434+160T>G||||||,C|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_017522.4|protein_coding|13/15|c.1822+1239T>G||||||,C|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_033300.3|protein_coding|13/16|c.1924+160T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1355;p3_1000G_AF=0.270567;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=22658;p3_1000G_EAS_AF=0.5278;p3_1000G_EUR_AF=0.3946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53722752;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,54:55:99:1972,155,0
chr1	53257518	rs869987	G	T	851.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.84;SOR=4.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs869987;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_004631.4|protein_coding|14/18|c.2210-54C>A||||||,T|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|14/17|c.2210-54C>A||||||,T|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_017522.4|protein_coding|13/15|c.1822+801C>A||||||,T|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_033300.3|protein_coding|12/16|c.1700-54C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1931;p3_1000G_AF=0.385583;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=11769;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.4036;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53723190;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:880,69,0
chr1	53266643	rs2297660	G	T	958.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.364;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=4.137;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=1.09;SOR=1.4;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297660;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|LRP8|LRP8|transcript|NM_004631.4|protein_coding|9/19|c.1257C>A|p.Gly419Gly|1494/7777|1257/2892|419/963||,T|synonymous_variant|LOW|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|9/18|c.1257C>A|p.Gly419Gly|1494/7600|1257/2715|419/904||,T|synonymous_variant|LOW|LRP8|LRP8|transcript|NM_017522.4|protein_coding|8/16|c.870C>A|p.Gly290Gly|1107/6988|870/2103|290/700||,T|synonymous_variant|LOW|LRP8|LRP8|transcript|NM_033300.3|protein_coding|7/17|c.747C>A|p.Gly249Gly|984/7267|747/2382|249/793||;p3_1000G_AA=G|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=19507;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.3956;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53732315;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1004,3402;ESP6500_AA_AGE=374.6+/-321.3;ESP6500_AA_GTC=120,764,1319;ESP6500_CDS_SIZES=NM_033300.3:2382,NM_017522.4:2103,NM_004631.4:2892,NM_001018054.2:2715;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=127;ESP6500_EA_AC=3451,5149;ESP6500_EA_AGE=507.5+/-376.8;ESP6500_EA_GTC=700,2051,1549;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033300.3:coding-synonymous,NM_017522.4:coding-synonymous,NM_004631.4:coding-synonymous,NM_001018054.2:coding-synonymous;ESP6500_GL=LRP8;ESP6500_GRCh38_POSITION=1:53266643;ESP6500_GTC=820,2815,2868;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_033300.3:c.747C>A,NM_017522.4:c.870C>A,NM_004631.4:c.1257C>A,NM_001018054.2:c.1257C>A;ESP6500_HGVS_PROTEIN_VAR=NM_033300.3:p.(G249),NM_017522.4:p.(G290),NM_004631.4:p.(G419),NM_001018054.2:p.(G419);ESP6500_MAF=40.1279,22.7871,34.2534;ESP6500_TAC=4455,8551	GT:AD:DP:GQ:PL	0/1:19,36:55:99:987,0,501
chr1	53270941	rs7542607	A	G	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.53;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.465;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-0.268;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7542607;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_004631.4|protein_coding|8/18|c.1252+87T>C||||||,G|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|8/17|c.1252+87T>C||||||,G|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_017522.4|protein_coding|7/15|c.865+87T>C||||||,G|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_033300.3|protein_coding|6/16|c.742+87T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=20991;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.3956;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53736613;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,10:25:99:219,0,410
chr1	53272511	rs7546246	A	G	817.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7546246;dbSNPBuildID=116;ANN=G|sequence_feature|LOW|LRP8|LRP8|domain:EGF-like_1|NM_004631.4|protein_coding|6/18|c.1007-1165T>C||||||,G|sequence_feature|LOW|LRP8|LRP8|domain:EGF-like_1|NM_001018054.2|protein_coding|6/17|c.1007-1165T>C||||||,G|sequence_feature|LOW|LRP8|LRP8|domain:EGF-like_1|NM_017522.4|protein_coding|5/15|c.620-1165T>C||||||,G|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_004631.4|protein_coding|6/18|c.1007-1165T>C||||||,G|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|6/17|c.1007-1165T>C||||||,G|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_017522.4|protein_coding|5/15|c.620-1165T>C||||||,G|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_033300.3|protein_coding|4/16|c.497-1165T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1972;p3_1000G_AF=0.39377;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=20294;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53738183;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:846,72,0
chr1	53289479	rs12035577	T	C	578.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.4;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12035577;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_004631.4|protein_coding|3/18|c.367+88A>G||||||,C|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|3/17|c.367+88A>G||||||,C|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_017522.4|protein_coding|3/15|c.367+88A>G||||||,C|intron_variant|MODIFIER|LRP8|LRP8|transcript|NM_033300.3|protein_coding|3/16|c.367+88A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1768;p3_1000G_AF=0.353035;p3_1000G_AFR_AF=0.18;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=21680;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53755151;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:607,48,0
chr1	53326979	rs3820198	A	C	831.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.29;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.041;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820198;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|LRP8|LRP8|transcript|NM_004631.4|protein_coding|2/19|c.138T>G|p.Asp46Glu|375/7777|138/2892|46/963||,C|missense_variant|MODERATE|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|2/18|c.138T>G|p.Asp46Glu|375/7600|138/2715|46/904||,C|missense_variant|MODERATE|LRP8|LRP8|transcript|NM_017522.4|protein_coding|2/16|c.138T>G|p.Asp46Glu|375/6988|138/2103|46/700||,C|missense_variant|MODERATE|LRP8|LRP8|transcript|NM_033300.3|protein_coding|2/17|c.138T>G|p.Asp46Glu|375/7267|138/2382|46/793||,C|sequence_feature|LOW|LRP8|LRP8|domain:LDL-receptor_class_A_1|NM_004631.4|protein_coding|2/19|c.138T>G||||||,C|sequence_feature|LOW|LRP8|LRP8|domain:LDL-receptor_class_A_1|NM_001018054.2|protein_coding|2/18|c.138T>G||||||,C|sequence_feature|LOW|LRP8|LRP8|domain:LDL-receptor_class_A_1|NM_017522.4|protein_coding|2/16|c.138T>G||||||,C|sequence_feature|LOW|LRP8|LRP8|domain:LDL-receptor_class_A_1|NM_033300.3|protein_coding|2/17|c.138T>G||||||,C|upstream_gene_variant|MODIFIER|LOC105378732|LOC105378732|transcript|NR_131923.1|pseudogene||n.-1254A>C|||||1254|;p3_1000G_AA=C|||;p3_1000G_AC=2756;p3_1000G_AF=0.550319;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=16437;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.3867;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53792651;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3635,771;ESP6500_AA_AGE=310.2+/-291.5;ESP6500_AA_GTC=1503,629,71;ESP6500_CDS_SIZES=NM_033300.3:2382,NM_017522.4:2103,NM_004631.4:2892,NM_001018054.2:2715;ESP6500_CG=0.8;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=71;ESP6500_EA_AC=3093,5507;ESP6500_EA_AGE=659.0+/-401.6;ESP6500_EA_GTC=526,2041,1733;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033300.3:missense,NM_017522.4:missense,NM_004631.4:missense,NM_001018054.2:missense;ESP6500_GL=LRP8;ESP6500_GRCh38_POSITION=1:53326979;ESP6500_GS=45,45,45,45;ESP6500_GTC=2029,2670,1804;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_033300.3:c.138T>G,NM_017522.4:c.138T>G,NM_004631.4:c.138T>G,NM_001018054.2:c.138T>G;ESP6500_HGVS_PROTEIN_VAR=NM_033300.3:p.(D46E),NM_017522.4:p.(D46E),NM_004631.4:p.(D46E),NM_001018054.2:p.(D46E);ESP6500_MAF=35.9651,17.4989,48.27;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=6728,6278	GT:AD:DP:GQ:PL	0/1:36,30:66:99:860,0,864
chr1	53327839	rs4926972	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-0.845;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4926972;dbSNPBuildID=130;ANN=C|missense_variant|MODERATE|LRP8|LRP8|transcript|NM_004631.4|protein_coding|1/19|c.74A>G|p.Gln25Arg|311/7777|74/2892|25/963||,C|missense_variant|MODERATE|LRP8|LRP8|transcript|NM_001018054.2|protein_coding|1/18|c.74A>G|p.Gln25Arg|311/7600|74/2715|25/904||,C|missense_variant|MODERATE|LRP8|LRP8|transcript|NM_017522.4|protein_coding|1/16|c.74A>G|p.Gln25Arg|311/6988|74/2103|25/700||,C|missense_variant|MODERATE|LRP8|LRP8|transcript|NM_033300.3|protein_coding|1/17|c.74A>G|p.Gln25Arg|311/7267|74/2382|25/793||,C|upstream_gene_variant|MODIFIER|LOC105378732|LOC105378732|transcript|NR_131923.1|pseudogene||n.-394T>C|||||394|;p3_1000G_AA=C|||;p3_1000G_AC=2756;p3_1000G_AF=0.550319;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=7123;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.3867;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53793511;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:114,0,183
chr1	53506532	rs2296758	T	C	301.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296758;dbSNPBuildID=100;ANN=C|3_prime_UTR_variant|MODIFIER|GLIS1|GLIS1|transcript|NM_147193.2|protein_coding|10/10|c.*87A>G|||||87|;p3_1000G_AA=C|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=12768;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.2425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53972205;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:330,27,0
chr1	53509314	rs10749691	G	T	466.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.079;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.297;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.952;SOR=0.199;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10749691;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|GLIS1|GLIS1|transcript|NM_147193.2|protein_coding|8/9|c.1538-27C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2974;p3_1000G_AF=0.59385;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=19600;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.8101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53974987;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1797,2581;ESP6500_AA_GTC=374,1049,766;ESP6500_CDS_SIZES=NM_147193.2:1863;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=12;ESP6500_EA_AC=6915,1647;ESP6500_EA_GTC=2839,1237,205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147193.2:intron;ESP6500_GL=GLIS1;ESP6500_GRCh38_POSITION=1:53509314;ESP6500_GTC=3213,2286,971;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_147193.2:c.1538-27C>A;ESP6500_MAF=19.2362,41.0461,32.6739;ESP6500_TAC=8712,4228	GT:AD:DP:GQ:PL	0/1:19,18:37:99:495,0,569
chr1	53509763	rs475322	C	A	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.952;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.21;SOR=1.144;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs475322;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|GLIS1|GLIS1|transcript|NM_147193.2|protein_coding|8/9|c.1537+86G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=883;p3_1000G_AF=0.176318;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=17293;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53975436;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:187,0,143
chr1	53514504	rs77376881	A	T	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=-0.619;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77376881;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|GLIS1|GLIS1|transcript|NM_147193.2|protein_coding|7/9|c.1358+121T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=129;p3_1000G_AF=0.0257588;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=21002;p3_1000G_EAS_AF=0.1062;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53980177;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:59:175,0,59
chr1	53524648	rs541224	C	T	438.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs541224;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|GLIS1|GLIS1|transcript|NM_147193.2|protein_coding|5/9|c.1068+129G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=3912;p3_1000G_AF=0.78115;p3_1000G_AFR_AF=0.388;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=19074;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53990321;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:467,42,0
chr1	53529693	rs60041200	G	A	258.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60041200;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|GLIS1|GLIS1|transcript|NM_147193.2|protein_coding|4/9|c.957+98C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1282;p3_1000G_AF=0.25599;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=16977;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.0189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53995366;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:287,24,0
chr1	53529842	rs12021912	G	A	969.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12021912;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|GLIS1|GLIS1|transcript|NM_147193.2|protein_coding|4/10|c.906C>T|p.Ala302Ala|1473/2816|906/1863|302/620||;p3_1000G_AA=G|||;p3_1000G_AC=907;p3_1000G_AF=0.18111;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=16095;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53995515;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=444,3962;ESP6500_AA_AGE=212.8+/-232.6;ESP6500_AA_GTC=17,410,1776;ESP6500_CDS_SIZES=NM_147193.2:1863;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=88;ESP6500_EA_AC=196,8404;ESP6500_EA_AGE=86.9+/-149.2;ESP6500_EA_GTC=4,188,4108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147193.2:coding-synonymous;ESP6500_GL=GLIS1;ESP6500_GRCh38_POSITION=1:53529842;ESP6500_GTC=21,598,5884;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_147193.2:c.906C>T;ESP6500_HGVS_PROTEIN_VAR=NM_147193.2:p.(A302);ESP6500_MAF=2.2791,10.0772,4.9208;ESP6500_TAC=640,12366	GT:AD:DP:GQ:PL	1/1:0,30:30:90:998,90,0
chr1	53599997	rs3013750	A	G	2340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=0.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3013750;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|GLIS1|GLIS1|transcript|NM_147193.2|protein_coding|2/9|c.-89+104T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=915;p3_1000G_AF=0.182708;p3_1000G_AFR_AF=0.2557;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=18602;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.0149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54065670;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2369,240,0
chr1	53878609	rs2272928	C	A	162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.287;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=1.5;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272928;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|YIPF1|YIPF1|transcript|NM_018982.4|protein_coding|5/10|c.276+33G>T||||||,A|intron_variant|MODIFIER|YIPF1|YIPF1|transcript|NR_036639.1|pseudogene|5/11|n.647+33G>T||||||,A|intron_variant|MODIFIER|YIPF1|YIPF1|transcript|NR_036640.1|pseudogene|4/10|n.427+33G>T||||||,A|intron_variant|MODIFIER|YIPF1|YIPF1|transcript|NR_135075.1|pseudogene|3/8|n.364+33G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3470;p3_1000G_AF=0.692891;p3_1000G_AFR_AF=0.761;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=17832;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.5676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54344282;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7035;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3281,1125;ESP6500_AA_AGE=401.5+/-332.0;ESP6500_AA_GTC=1222,837,144;ESP6500_CDS_SIZES=NM_018982.4:921;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=66;ESP6500_EA_AC=4761,3839;ESP6500_EA_AGE=539.8+/-383.7;ESP6500_EA_GTC=1324,2113,863;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018982.4:intron;ESP6500_GL=YIPF1;ESP6500_GRCh38_POSITION=1:53878609;ESP6500_GTC=2546,2950,1007;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018982.4:c.276+33G>T;ESP6500_MAF=44.6395,25.5334,38.167;ESP6500_TAC=8042,4964	GT:AD:DP:GQ:PL	0/1:2,8:10:54:191,0,54
chr1	53888985	rs2294508	T	G	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.232;SOR=1.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294508;dbSNPBuildID=100;ANN=G|splice_region_variant|LOW|YIPF1|YIPF1|transcript|NM_018982.4|protein_coding|3/11|c.-48A>C||||||,G|splice_region_variant&non_coding_transcript_exon_variant|LOW|YIPF1|YIPF1|transcript|NR_036639.1|pseudogene|3/12|n.324A>C||||||,G|splice_region_variant&non_coding_transcript_exon_variant|LOW|YIPF1|YIPF1|transcript|NR_036640.1|pseudogene|2/11|n.104A>C||||||,G|5_prime_UTR_variant|MODIFIER|YIPF1|YIPF1|transcript|NM_018982.4|protein_coding|3/11|c.-48A>C|||||48|,G|intron_variant|MODIFIER|YIPF1|YIPF1|transcript|NR_135075.1|pseudogene|1/8|n.119+728A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1272;p3_1000G_AF=0.253994;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=19167;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54354658;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1241,3165;ESP6500_AA_GTC=170,901,1132;ESP6500_CDS_SIZES=NM_018982.4:921;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=1645,6955;ESP6500_EA_GTC=163,1319,2818;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018982.4:utr-5;ESP6500_GL=YIPF1;ESP6500_GRCh38_POSITION=1:53888985;ESP6500_GTC=333,2220,3950;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018982.4:c.-48A>C;ESP6500_MAF=19.1279,28.1661,22.1898;ESP6500_TAC=2886,10120	GT:AD:DP:GQ:PL	0/1:12,12:24:99:381,0,293
chr1	53904633	rs2294512	G	A	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.992;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.939;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294512;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_000792.6|protein_coding|1/3|c.338-33G>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_001039715.2|protein_coding|1/2|c.338-1462G>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_001039716.2|protein_coding|1/2|c.338-33G>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_001324316.1|protein_coding|1/1|c.338-5298G>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_213593.4|protein_coding|1/3|c.146-33G>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NR_136692.1|pseudogene|1/3|n.253-33G>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NR_136693.1|pseudogene|2/4|n.279-33G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2086;p3_1000G_AF=0.416534;p3_1000G_AFR_AF=0.5038;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=19504;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54370306;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1821,2041;ESP6500_AA_GTC=421,979,531;ESP6500_CDS_SIZES=NM_213593.3:558,NM_001039716.1:486,NM_001039715.1:606,NM_000792.5:750;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=245;ESP6500_EA_AC=2195,6093;ESP6500_EA_GTC=282,1631,2231;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213593.3:intron,NM_001039716.1:intron,NM_001039715.1:intron,NM_000792.5:intron;ESP6500_GL=DIO1;ESP6500_GRCh38_POSITION=1:53904633;ESP6500_GTC=703,2610,2762;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_213593.3:c.146-33G>A,NM_001039716.1:c.338-33G>A,NM_001039715.1:c.338-1462G>A,NM_000792.5:c.338-33G>A;ESP6500_MAF=26.4841,47.1517,33.0535;ESP6500_TAC=4016,8134	GT:AD:DP:GQ:PL	0/1:14,12:26:99:278,0,405
chr1	53909897	rs2235544	C	A	1202.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2235544;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_000792.6|protein_coding|3/3|c.682-34C>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_001039715.2|protein_coding|2/2|c.538-34C>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_001039716.2|protein_coding|2/2|c.482-34C>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_001324316.1|protein_coding|1/1|c.338-34C>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NM_213593.4|protein_coding|3/3|c.490-34C>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NR_136692.1|pseudogene|3/3|n.597-34C>A||||||,A|intron_variant|MODIFIER|DIO1|DIO1|transcript|NR_136693.1|pseudogene|4/4|n.623-34C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2305;p3_1000G_AF=0.460264;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=21843;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.5249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54375570;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6667;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1160,3246;ESP6500_AA_AGE=408.6+/-334.7;ESP6500_AA_GTC=151,858,1194;ESP6500_CDS_SIZES=NM_213593.3:558,NM_001039716.1:486,NM_001039715.1:606,NM_000792.5:750;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=93;ESP6500_EA_AC=4329,4271;ESP6500_EA_AGE=578.9+/-390.8;ESP6500_EA_GTC=1069,2191,1040;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213593.3:intron,NM_001039716.1:intron,NM_001039715.1:intron,NM_000792.5:intron;ESP6500_GL=DIO1;ESP6500_GRCh38_POSITION=1:53909897;ESP6500_GTC=1220,3049,2234;ESP6500_GTS=AA,AC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23408906;ESP6500_HGVS_CDNA_VAR=NM_213593.3:c.490-34C>A,NM_001039716.1:c.482-34C>A,NM_001039715.1:c.538-34C>A,NM_000792.5:c.682-34C>A;ESP6500_MAF=49.6628,26.3277,42.2036;ESP6500_TAC=5489,7517	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1231,114,0
chr1	53910028	rs11206244	C	T	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.623;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.61;ReadPosRankSum=0.96;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11206244;dbSNPBuildID=120;ANN=T|3_prime_UTR_variant|MODIFIER|DIO1|DIO1|transcript|NM_000792.6|protein_coding|4/4|c.*29C>T|||||29|,T|3_prime_UTR_variant|MODIFIER|DIO1|DIO1|transcript|NM_001039715.2|protein_coding|3/3|c.*29C>T|||||29|,T|3_prime_UTR_variant|MODIFIER|DIO1|DIO1|transcript|NM_001039716.2|protein_coding|3/3|c.*93C>T|||||93|,T|3_prime_UTR_variant|MODIFIER|DIO1|DIO1|transcript|NM_001324316.1|protein_coding|2/2|c.*93C>T|||||93|,T|3_prime_UTR_variant|MODIFIER|DIO1|DIO1|transcript|NM_213593.4|protein_coding|4/4|c.*29C>T|||||29|,T|non_coding_transcript_exon_variant|MODIFIER|DIO1|DIO1|transcript|NR_136692.1|pseudogene|4/4|n.694C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DIO1|DIO1|transcript|NR_136693.1|pseudogene|5/5|n.720C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1565;p3_1000G_AF=0.3125;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=21153;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54375701;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=961,3445;ESP6500_AA_AGE=361.4+/-315.7;ESP6500_AA_GTC=104,753,1346;ESP6500_CDS_SIZES=NM_213593.3:558,NM_001039716.1:486,NM_001039715.1:606,NM_000792.5:750;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=78;ESP6500_EA_AC=2931,5669;ESP6500_EA_AGE=456.5+/-364.1;ESP6500_EA_GTC=505,1921,1874;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213593.3:utr-3,NM_001039716.1:utr-3,NM_001039715.1:utr-3,NM_000792.5:utr-3;ESP6500_GL=DIO1;ESP6500_GRCh38_POSITION=1:53910028;ESP6500_GTC=609,2674,3220;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_213593.3:c.*29C>T,NM_001039716.1:c.*93C>T,NM_001039715.1:c.*29C>T,NM_000792.5:c.*29C>T;ESP6500_MAF=34.0814,21.8112,29.9247;ESP6500_TAC=3892,9114	GT:AD:DP:GQ:PL	0/1:21,8:29:99:162,0,594
chr1	53916684	rs34779808	C	G	207.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.583;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=0.812;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34779808;dbSNPBuildID=126;ANN=G|downstream_gene_variant|MODIFIER|HSPB11|HSPB11|transcript|NM_001316935.1|protein_coding||c.*4967G>C|||||4877|,G|downstream_gene_variant|MODIFIER|HSPB11|HSPB11|transcript|NM_016126.3|protein_coding||c.*4967G>C|||||4877|,G|downstream_gene_variant|MODIFIER|HSPB11|HSPB11|transcript|NR_133632.1|pseudogene||n.*4877G>C|||||4877|,G|downstream_gene_variant|MODIFIER|HSPB11|HSPB11|transcript|NR_133633.1|pseudogene||n.*4877G>C|||||4877|,G|intergenic_region|MODIFIER|DIO1-HSPB11|DIO1-HSPB11|intergenic_region|DIO1-HSPB11|||n.53916684C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=420;p3_1000G_AF=0.0838658;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=18923;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.1581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54382357;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,10:29:99:236,0,542
chr1	54139645	rs3841798;rs76608277	T	TGG	135.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=4.467;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=-1.752;SOR=1.16;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3841798,rs76608277;dbSNPBuildID=131,107;ANN=TGG|frameshift_variant|HIGH|CDCP2|CDCP2|transcript|NM_201546.3|protein_coding|4/4|c.1223_1224dupCC|p.Met409fs|1308/1959|1224/1350|408/449||;LOF=(CDCP2|CDCP2|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,6:27:99:0|1:54139645_T_TGG:173,0,884
chr1	54139646	rs36013100	G	GC	730.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.805;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.36;ReadPosRankSum=2.28;SOR=0.877;INS;HET;VARTYPE=INS;dbSNP138_ID=rs36013100,rs66537746,rs79249469;dbSNPBuildID=134;ANN=GC|frameshift_variant|HIGH|CDCP2|CDCP2|transcript|NM_201546.3|protein_coding|4/4|c.1223_1224insG|p.Met409fs|1307/1959|1223/1350|408/449||;LOF=(CDCP2|CDCP2|1|1.00);p3_1000G_AA=?|-|C|unsure;p3_1000G_AC=2403;p3_1000G_AF=0.479832;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=16583;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.6521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54605319;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,22:30:99:1|0:54139645_T_TGG:768,0,245
chr1	54141131	rs3766465	C	T	1367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.19;SOR=1.788;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3766465;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|CDCP2|CDCP2|transcript|NM_201546.3|protein_coding|3/4|c.730G>A|p.Gly244Arg|814/1959|730/1350|244/449||;p3_1000G_AA=C|||;p3_1000G_AC=4127;p3_1000G_AF=0.824081;p3_1000G_AFR_AF=0.7723;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=18579;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.8509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54606804;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3424,980;ESP6500_AA_GTC=1342,740,120;ESP6500_CDS_SIZES=NM_201546.2:1350;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=34;ESP6500_EA_AC=7299,1297;ESP6500_EA_GTC=3110,1079,109;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201546.2:missense;ESP6500_GL=CDCP2;ESP6500_GRCh38_POSITION=1:54141131;ESP6500_GS=125;ESP6500_GTC=4452,1819,229;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201546.2:c.730G>A;ESP6500_HGVS_PROTEIN_VAR=NM_201546.2:p.(G244R);ESP6500_MAF=15.0884,22.2525,17.5154;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=10723,2277	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1396,120,0
chr1	54141378	rs671103	A	G	2514.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=1.55;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs671103;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|CDCP2|CDCP2|transcript|NM_201546.3|protein_coding|3/4|c.483T>C|p.Tyr161Tyr|567/1959|483/1350|161/449||;p3_1000G_AA=G|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18017;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54607051;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4367,39;ESP6500_AA_AGE=44.6+/-78.6;ESP6500_AA_GTC=2164,39,0;ESP6500_CDS_SIZES=NM_201546.2:1350;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=51;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201546.2:coding-synonymous;ESP6500_GL=CDCP2;ESP6500_GRCh38_POSITION=1:54141378;ESP6500_GTC=6464,39,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_201546.2:c.483T>C;ESP6500_HGVS_PROTEIN_VAR=NM_201546.2:p.(Y161);ESP6500_MAF=0.0,0.8852,0.2999;ESP6500_TAC=12967,39	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2543,231,0
chr1	54141484	rs671539	G	A	763.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs671539;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|CDCP2|CDCP2|transcript|NM_201546.3|protein_coding|2/3|c.428-51C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4389;p3_1000G_AF=0.876398;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=18491;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54607157;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3689,715;ESP6500_AA_GTC=1557,575,70;ESP6500_CDS_SIZES=NM_201546.2:1350;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=14;ESP6500_EA_AC=7334,1264;ESP6500_EA_GTC=3139,1056,104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201546.2:intron;ESP6500_GL=CDCP2;ESP6500_GRCh38_POSITION=1:54141484;ESP6500_GTC=4696,1631,174;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201546.2:c.428-51C>T;ESP6500_MAF=14.7011,16.2352,15.2207;ESP6500_TAC=11023,1979	GT:AD:DP:GQ:PL	1/1:0,23:23:69:792,69,0
chr1	54152762	rs7528345	A	T	1590.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7528345;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CDCP2|CDCP2|transcript|NM_201546.3|protein_coding|1/3|c.79+82T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3236;p3_1000G_AF=0.646166;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=18194;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.7485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54618435;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1619,165,0
chr1	54179375	rs75367148	A	G	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.25;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.32;ReadPosRankSum=0.707;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75367148;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|CYB5RL|CYB5RL|transcript|NM_001031672.2|protein_coding|6/7|c.541-23T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=515;p3_1000G_AF=0.102835;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=20091;p3_1000G_EAS_AF=0.2817;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54645048;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=313,3713;ESP6500_AA_GTC=15,283,1715;ESP6500_CDS_SIZES=NM_001031672.2:948;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=31;ESP6500_EA_AC=64,8254;ESP6500_EA_GTC=0,64,4095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001031672.2:intron;ESP6500_GL=CYB5RL;ESP6500_GRCh38_POSITION=1:54179375;ESP6500_GTC=15,347,5810;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001031672.2:c.541-23T>C;ESP6500_MAF=0.7694,7.7745,3.0541;ESP6500_TAC=377,11967	GT:AD:DP:GQ:PL	0/1:5,10:15:99:378,0,142
chr1	54190978	rs4927066	C	G	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.378;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.152;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4927066;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CYB5RL|CYB5RL|transcript|NM_001031672.2|protein_coding|3/7|c.199-82G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2540;p3_1000G_AF=0.507188;p3_1000G_AFR_AF=0.3949;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=20590;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54656651;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:204,0,272
chr1	54195306	rs11206299	T	C	395.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.52;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=1.3;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11206299;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|MRPL37|MRPL37|transcript|NM_016491.3|protein_coding||c.-4938T>C|||||4861|,C|intron_variant|MODIFIER|CYB5RL|CYB5RL|transcript|NM_001031672.2|protein_coding|3/7|c.198+113A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=639;p3_1000G_AF=0.127596;p3_1000G_AFR_AF=0.1687;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=20578;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54660979;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,12:27:99:424,0,405
chr1	54212632	rs2275408	C	G	1461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.934;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-2.925;SOR=0.613;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275408;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|MRPL37|MRPL37|transcript|NM_016491.3|protein_coding|5/7|c.964C>G|p.Leu322Val|1041/1483|964/1272|322/423||;p3_1000G_AA=C|||;p3_1000G_AC=274;p3_1000G_AF=0.0547125;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=19583;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54678305;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=11,4395;ESP6500_AA_AGE=17.9+/-39.9;ESP6500_AA_GTC=0,11,2192;ESP6500_CDS_SIZES=NM_016491.3:1272;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=122;ESP6500_EA_AC=10,8590;ESP6500_EA_AGE=8.4+/-32.0;ESP6500_EA_GTC=0,10,4290;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016491.3:missense;ESP6500_GL=MRPL37;ESP6500_GRCh38_POSITION=1:54212632;ESP6500_GS=32;ESP6500_GTC=0,21,6482;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_016491.3:c.964C>G;ESP6500_HGVS_PROTEIN_VAR=NM_016491.3:p.(L322V);ESP6500_MAF=0.1163,0.2497,0.1615;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=21,12985	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1490,0,1078
chr1	54216247	rs13571	G	C	2420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13571;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|MRPL37|MRPL37|transcript|NM_016491.3|protein_coding|6/7|c.1097G>C|p.Cys366Ser|1174/1483|1097/1272|366/423||;p3_1000G_AA=C|||;p3_1000G_AC=2921;p3_1000G_AF=0.583267;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=19939;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.7922;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54681920;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2894,1512;ESP6500_AA_AGE=480.6+/-358.9;ESP6500_AA_GTC=956,982,265;ESP6500_CDS_SIZES=NM_016491.3:1272;ESP6500_CG=5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=128;ESP6500_EA_AC=6730,1870;ESP6500_EA_AGE=331.5+/-319.7;ESP6500_EA_GTC=2620,1490,190;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016491.3:missense;ESP6500_GL=MRPL37;ESP6500_GRCh38_POSITION=1:54216247;ESP6500_GS=112;ESP6500_GTC=3576,2472,455;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_016491.3:c.1097G>C;ESP6500_HGVS_PROTEIN_VAR=NM_016491.3:p.(C366S);ESP6500_MAF=21.7442,34.3168,26.0034;ESP6500_PH=benign:0.001;ESP6500_TAC=9624,3382	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2449,224,0
chr1	54406036	rs759612820	T	TCGCCGCCGCCGC	165.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.712;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.68;ReadPosRankSum=1.98;SOR=1.022;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=TCGCCGCCGCCGC|5_prime_UTR_variant|MODIFIER|SSBP3|SSBP3|transcript|NM_145716.3|protein_coding|1/18|c.-40_-29dupGCGGCGGCGGCG|||||29|,TCGCCGCCGCCGC|5_prime_UTR_variant|MODIFIER|SSBP3|SSBP3|transcript|NM_001009955.3|protein_coding|1/17|c.-40_-29dupGCGGCGGCGGCG|||||29|,TCGCCGCCGCCGC|5_prime_UTR_variant|MODIFIER|SSBP3|SSBP3|transcript|NM_018070.4|protein_coding|1/17|c.-40_-29dupGCGGCGGCGGCG|||||29|	GT:AD:DP:GQ:PL	0/1:2,5:7:30:203,0,30
chr1	54548426	rs299874	C	T	464.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.34;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs299874;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_015547.3|protein_coding|1/16|c.33+84C>T||||||,T|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_147161.3|protein_coding|1/15|c.33+84C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3762;p3_1000G_AF=0.751198;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=14966;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.7326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55014099;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=811,573;ESP6500_AA_GTC=239,333,120;ESP6500_CDS_SIZES=NM_147161.3:1785,NM_015547.3:1824;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=20;ESP6500_EA_AC=2293,889;ESP6500_EA_GTC=813,667,111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147161.3:intron,NM_015547.3:intron;ESP6500_GL=ACOT11;ESP6500_GRCh38_POSITION=1:54548426;ESP6500_GTC=1052,1000,231;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_147161.3:c.33+84C>T,NM_015547.3:c.33+84C>T;ESP6500_MAF=27.9384,41.4017,32.0193;ESP6500_TAC=3104,1462	GT:AD:DP:GQ:PL	1/1:0,17:17:51:493,51,0
chr1	54548487	rs299872	C	T	242.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs299872;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_015547.3|protein_coding|1/16|c.33+145C>T||||||,T|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_147161.3|protein_coding|1/15|c.33+145C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3150;p3_1000G_AF=0.628994;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=15358;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.7256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55014160;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:271,27,0
chr1	54599225	rs112040476	A	T	165.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs112040476;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_015547.3|protein_coding|7/16|c.765-71A>T||||||,T|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_147161.3|protein_coding|7/15|c.765-71A>T||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:18:194,18,0
chr1	54609249	rs2289016	G	A	1184.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289016;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|FAM151A|FAM151A|transcript|NM_176782.2|protein_coding|8/8|c.*19C>T|||||19|,A|3_prime_UTR_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_147161.3|protein_coding|16/16|c.*137G>A|||||137|,A|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_015547.3|protein_coding|15/16|c.1629+1181G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1218;p3_1000G_AF=0.243211;p3_1000G_AFR_AF=0.0613;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=17128;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.3062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55074922;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=474,3932;ESP6500_AA_AGE=222.3+/-239.2;ESP6500_AA_GTC=36,402,1765;ESP6500_CDS_SIZES=NM_176782.2:1758,NM_147161.3:1785,NM_015547.3:1824;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=2874,5726;ESP6500_EA_AGE=449.7+/-362.2;ESP6500_EA_GTC=467,1940,1893;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176782.2:utr-3,NM_147161.3:utr-3,NM_015547.3:intron;ESP6500_GL=ACOT11,FAM151A;ESP6500_GRCh38_POSITION=1:54609249;ESP6500_GTC=503,2342,3658;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_176782.2:c.*19C>T,NM_147161.3:c.*137G>A,NM_015547.3:c.1629+1181G>A;ESP6500_MAF=33.4186,10.7581,25.742;ESP6500_TAC=3348,9658	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1213,105,0
chr1	54614939	rs147772009;rs78122321;rs557266055;rs575934917	GGTGT	G	682.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs147772009,rs78122321;dbSNPBuildID=134,137;ANN=G|downstream_gene_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_147161.3|protein_coding||c.*5828_*5831delGTGT|||||4608|,G|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_015547.3|protein_coding|15/16|c.1629+6883_1629+6886delTGTG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|FAM151A|FAM151A|transcript|NM_176782.2|protein_coding|3/7|c.416-84_416-81delACAC||||||;p3_1000G_AC=1896;p3_1000G_AF=0.378594;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=23344;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55080612;p3_1000G_GRCH37_REF=GGTGT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:54614939_GGTGT_G:720,48,0
chr1	54614956	rs1702015	A	G	691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.92;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1702015;dbSNPBuildID=89;ANN=G|downstream_gene_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_147161.3|protein_coding||c.*5844A>G|||||4624|,G|intron_variant|MODIFIER|ACOT11|ACOT11|transcript|NM_015547.3|protein_coding|15/16|c.1629+6888A>G||||||,G|intron_variant|MODIFIER|FAM151A|FAM151A|transcript|NM_176782.2|protein_coding|3/7|c.416-97T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3712;p3_1000G_AF=0.741214;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.7867;p3_1000G_AN=5008;p3_1000G_DP=19679;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.9453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55080629;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:54614939_GGTGT_G:720,48,0
chr1	54630819	rs377475734	G	A	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.08;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=1.09;SOR=1.501;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs377475734;dbSNPBuildID=138;ANN=A|missense_variant|MODERATE|ACOT11|ACOT11|transcript|NM_015547.3|protein_coding|16/17|c.1715G>A|p.Arg572His|1891/2015|1715/1824|572/607||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16720;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55096492;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_015547.3:1824;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=20;ESP6500_EA_AC=1,8595;ESP6500_EA_GTC=0,1,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015547.3:missense;ESP6500_GL=ACOT11;ESP6500_GRCh38_POSITION=1:54630819;ESP6500_GS=29;ESP6500_GTC=0,2,6499;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015547.3:c.1715G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015547.3:p.(R572H);ESP6500_MAF=0.0116,0.0227,0.0154;ESP6500_TAC=2,13000	GT:AD:DP:GQ:PL	0/1:7,8:15:99:213,0,139
chr1	54652893	rs1655520	C	G	1084.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1655520;dbSNPBuildID=89;ANN=G|5_prime_UTR_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|3/24|c.-34C>G|||||34|,G|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|1/21|c.-214+10925C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|3/33|n.410C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|3/24|n.299C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|3/23|n.305C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|3/33|n.305C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|3/33|n.305C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4751;p3_1000G_AF=0.948682;p3_1000G_AFR_AF=0.8116;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=19070;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55118566;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3446,552;ESP6500_AA_GTC=1485,476,38;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=60;ESP6500_EA_AC=8335,15;ESP6500_EA_GTC=4160,15,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:utr-5;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54652893;ESP6500_GTC=5645,491,38;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.-34C>G;ESP6500_MAF=0.1796,13.8069,4.5918;ESP6500_TAC=11781,567	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1113,99,0
chr1	54653471	rs11206407	A	G	606.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.66;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0.936;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=0.802;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11206407;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|3/24|c.545A>G|p.His182Arg|883/4390|545/3972|182/1323||,G|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|1/21|c.-214+11503A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|3/33|n.988A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|3/24|n.877A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|3/23|n.883A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|3/33|n.883A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|3/33|n.883A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1556;p3_1000G_AF=0.310703;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=20536;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55119144;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=705,3091;ESP6500_AA_GTC=67,571,1260;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=79;ESP6500_EA_AC=2809,5439;ESP6500_EA_GTC=456,1897,1771;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039464.2:missense;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54653471;ESP6500_GS=29;ESP6500_GTC=523,2468,3031;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.545A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(H182R);ESP6500_MAF=34.0567,18.5722,29.1764;ESP6500_PH=benign:0.0;ESP6500_TAC=3514,8530	GT:AD:DP:GQ:PL	0/1:56,24:80:99:635,0,1524
chr1	54653616	rs9332417	G	C	1007.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.864;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=0.764;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.14;SOR=0.579;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9332417;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|3/24|c.690G>C|p.Leu230Leu|1028/4390|690/3972|230/1323||,C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|1/21|c.-213-11551G>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|3/33|n.1133G>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|3/24|n.1022G>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|3/23|n.1028G>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|3/33|n.1028G>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|3/33|n.1028G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2106;p3_1000G_AF=0.420527;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=21481;p3_1000G_EAS_AF=0.5208;p3_1000G_EUR_AF=0.5944;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55119289;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1415,2433;ESP6500_AA_GTC=258,899,767;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=64;ESP6500_EA_AC=4876,3394;ESP6500_EA_GTC=1435,2006,694;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:coding-synonymous;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54653616;ESP6500_GTC=1693,2905,1461;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.690G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(L230);ESP6500_MAF=41.0399,36.7723,48.0855;ESP6500_TAC=6291,5827	GT:AD:DP:GQ:PL	0/1:64,38:102:99:1036,0,2080
chr1	54653842	rs1655519	T	G	1588.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.041;ClippingRankSum=0;DP=142;ExcessHet=3.0103;FS=4.026;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.773;SOR=0.476;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1655519;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|3/24|c.916T>G|p.Tyr306Asp|1254/4390|916/3972|306/1323||,G|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|1/21|c.-213-11325T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|3/33|n.1359T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|3/24|n.1248T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|3/23|n.1254T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|3/33|n.1254T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|3/33|n.1254T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2131;p3_1000G_AF=0.425519;p3_1000G_AFR_AF=0.4251;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=21265;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55119515;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1728,2572;ESP6500_AA_GTC=344,1040,766;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=117;ESP6500_EA_AC=2803,5677;ESP6500_EA_GTC=475,1853,1912;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039464.2:missense;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54653842;ESP6500_GS=160;ESP6500_GTC=819,2893,2678;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.916T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(Y306D);ESP6500_MAF=33.0542,40.186,35.4538;ESP6500_PH=benign:0.0;ESP6500_TAC=4531,8249	GT:AD:DP:GQ:PL	0/1:78,63:141:99:1617,0,2104
chr1	54653873	rs1655518	A	G	4634.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=142;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=0.796;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1655518;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|3/24|c.947A>G|p.Glu316Gly|1285/4390|947/3972|316/1323||,G|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|1/21|c.-213-11294A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|3/33|n.1390A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|3/24|n.1279A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|3/23|n.1285A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|3/33|n.1285A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|3/33|n.1285A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4773;p3_1000G_AF=0.953075;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20968;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55119546;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3820,514;ESP6500_AA_GTC=1681,458,28;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=120;ESP6500_EA_AC=8497,15;ESP6500_EA_GTC=4241,15,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039464.2:missense;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54653873;ESP6500_GS=98;ESP6500_GTC=5922,473,28;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.947A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(E316G);ESP6500_MAF=0.1762,11.8597,4.118;ESP6500_PH=benign:0.0;ESP6500_TAC=12317,529	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4663,423,0
chr1	54665258	rs2078273	C	T	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.398;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.42;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2078273;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|4/23|c.1305+18C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|5/32|n.1823+18C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|2/21|c.-140+18C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|4/23|n.1637+18C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|4/22|n.1643+18C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|4/32|n.1643+18C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|4/32|n.1643+18C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1746;p3_1000G_AF=0.348642;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=17263;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55130931;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=900,3368;ESP6500_AA_GTC=116,668,1350;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=86;ESP6500_EA_AC=3505,4985;ESP6500_EA_GTC=720,2065,1460;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:intron;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54665258;ESP6500_GTC=836,2733,2810;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.1305+18C>T;ESP6500_MAF=41.2839,21.0872,34.5274;ESP6500_TAC=4405,8353	GT:AD:DP:GQ:PL	0/1:11,10:21:99:320,0,295
chr1	54665273	rs6703113	G	C	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.354;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6703113;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|4/23|c.1305+33G>C||||||,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|5/32|n.1823+33G>C||||||,C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|2/21|c.-140+33G>C||||||,C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|4/23|n.1637+33G>C||||||,C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|4/22|n.1643+33G>C||||||,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|4/32|n.1643+33G>C||||||,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|4/32|n.1643+33G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1934;p3_1000G_AF=0.386182;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=16941;p3_1000G_EAS_AF=0.6012;p3_1000G_EUR_AF=0.4463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55130946;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1090,3154;ESP6500_AA_GTC=150,790,1182;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=69;ESP6500_EA_AC=3601,4887;ESP6500_EA_GTC=760,2081,1403;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:intron;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54665273;ESP6500_GTC=910,2871,2585;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.1305+33G>C;ESP6500_MAF=42.4246,25.6833,36.8442;ESP6500_TAC=4691,8041	GT:AD:DP:GQ:PL	0/1:9,10:19:99:299,0,219
chr1	54665299	rs471724	C	T	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.15;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs471724;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|4/23|c.1305+59C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|5/32|n.1823+59C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|2/21|c.-140+59C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|4/23|n.1637+59C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|4/22|n.1643+59C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|4/32|n.1643+59C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|4/32|n.1643+59C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4335;p3_1000G_AF=0.865615;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=17435;p3_1000G_EAS_AF=0.9226;p3_1000G_EUR_AF=0.7445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55130972;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1196,188;ESP6500_AA_GTC=519,158,15;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=73;ESP6500_EA_AC=2348,834;ESP6500_EA_GTC=887,574,130;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:intron;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54665299;ESP6500_GTC=1406,732,145;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.1305+59C>T;ESP6500_MAF=26.2099,13.5838,22.3828;ESP6500_TAC=3544,1022	GT:AD:DP:GQ:PL	1/1:0,18:18:54:535,54,0
chr1	54668706	rs627095	C	T	558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.92;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs627095;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|4/23|c.1306-148C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|5/32|n.1824-148C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|2/21|c.-139-148C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|4/23|n.1638-148C>T||||||,T|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|4/22|n.1644-148C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|4/32|n.1644-148C>T||||||,T|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|4/32|n.1644-148C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4470;p3_1000G_AF=0.892572;p3_1000G_AFR_AF=0.9039;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=15285;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55134379;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:587,48,0
chr1	54668814	rs478513	G	A	802.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0.996;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.381;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs478513;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|4/23|c.1306-40G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|5/32|n.1824-40G>A||||||,A|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|2/21|c.-139-40G>A||||||,A|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|4/23|n.1638-40G>A||||||,A|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|4/22|n.1644-40G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|4/32|n.1644-40G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|4/32|n.1644-40G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1945;p3_1000G_AF=0.388379;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=13828;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.2783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55134487;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1203,2717;ESP6500_AA_GTC=190,823,947;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=72;ESP6500_EA_AC=2331,5961;ESP6500_EA_GTC=345,1641,2160;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:intron;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54668814;ESP6500_GTC=535,2464,3107;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.1306-40G>A;ESP6500_MAF=28.1114,30.6888,28.9387;ESP6500_TAC=3534,8678	GT:AD:DP:GQ:PL	0/1:27,33:60:99:831,0,573
chr1	54670394	rs2251719	T	G	403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2251719;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|5/23|c.1390-103T>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|6/32|n.1908-103T>G||||||,G|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|3/21|c.-55-105T>G||||||,G|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|5/23|n.1722-103T>G||||||,G|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|5/22|n.1728-103T>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|5/32|n.1728-103T>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|5/32|n.1728-103T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4631;p3_1000G_AF=0.92472;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=13747;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55136067;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:432,33,0
chr1	54670856	rs480963	T	C	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.537;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.244;SOR=0.489;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs480963;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|7/24|c.1526T>C|p.Val509Ala|1864/4390|1526/3972|509/1323||,C|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|5/22|c.80T>C|p.Val27Ala|522/3048|80/2526|27/841||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|8/33|n.2044T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|7/24|n.1858T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|7/23|n.1864T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|7/33|n.1864T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|7/33|n.1864T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1898;p3_1000G_AF=0.378994;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=14055;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.2863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55136529;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1129,3163;ESP6500_AA_GTC=152,825,1169;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=43;ESP6500_EA_AC=2421,6067;ESP6500_EA_GTC=366,1689,2189;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039464.2:missense;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54670856;ESP6500_GS=64;ESP6500_GTC=518,2514,3358;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.1526T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(V509A);ESP6500_MAF=28.5226,26.3048,27.7778;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=3550,9230	GT:AD:DP:GQ:PL	0/1:22,17:39:99:412,0,543
chr1	54673432	rs568137	T	C	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.243;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs568137;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|8/23|c.1695+246T>C||||||,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|9/32|n.2213+246T>C||||||,C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|6/21|c.249+246T>C||||||,C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|8/23|n.2027+246T>C||||||,C|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|8/22|n.2033+246T>C||||||,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|8/32|n.2033+246T>C||||||,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|8/32|n.2033+246T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1224;p3_1000G_AF=0.244409;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=17896;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.325;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55139105;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:226,0,197
chr1	54673945	rs571199	G	A	485.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.9;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.784;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs571199;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|9/23|c.1801-71G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|10/32|n.2319-55G>A||||||,A|intron_variant|MODIFIER|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|7/21|c.355-71G>A||||||,A|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|9/23|n.2133-55G>A||||||,A|intron_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|9/22|n.2139-71G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|9/32|n.2139-71G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|9/32|n.2139-55G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1223;p3_1000G_AF=0.244209;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=19546;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.325;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55139618;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,16:31:99:514,0,413
chr1	54674068	rs570218	A	G	959.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs570218;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|10/24|c.1853A>G|p.His618Arg|2191/4390|1853/3972|618/1323||,G|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|8/22|c.407A>G|p.His136Arg|849/3048|407/2526|136/841||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|11/33|n.2387A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|10/24|n.2201A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|10/23|n.2191A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|10/33|n.2191A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|10/33|n.2207A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4556;p3_1000G_AF=0.909744;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=18147;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55139741;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9448;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3489,365;ESP6500_AA_GTC=1579,331,17;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=129;ESP6500_EA_AC=6562,1742;ESP6500_EA_GTC=2611,1340,201;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039464.2:missense;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54674068;ESP6500_GS=29;ESP6500_GTC=4190,1671,218;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.1853A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(H618R);ESP6500_MAF=20.9778,9.4707,17.3302;ESP6500_PH=benign:0.0;ESP6500_TAC=10051,2107	GT:AD:DP:GQ:PL	1/1:0,32:32:96:988,96,0
chr1	54674111	rs201651654	C	T	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.57;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=4.301;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=0.194;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201651654;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|10/24|c.1896C>T|p.Asp632Asp|2234/4390|1896/3972|632/1323||,T|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|8/22|c.450C>T|p.Asp150Asp|892/3048|450/2526|150/841||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|11/33|n.2430C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|10/24|n.2244C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|10/23|n.2234C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|10/33|n.2234C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|10/33|n.2250C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17407;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55139784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,3927;ESP6500_AA_GTC=0,1,1963;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=-4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=123;ESP6500_EA_AC=8,8326;ESP6500_EA_GTC=0,8,4159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:coding-synonymous;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54674111;ESP6500_GTC=0,9,6122;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.1896C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(D632);ESP6500_MAF=0.096,0.0255,0.0734;ESP6500_TAC=9,12253	GT:AD:DP:GQ:PL	0/1:19,9:28:99:217,0,496
chr1	54678793	rs75269200	A	G	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.986;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.366;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=1.92;SOR=0.654;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75269200;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|11/24|c.1988A>G|p.Lys663Arg|2326/4390|1988/3972|663/1323||,G|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|9/22|c.542A>G|p.Lys181Arg|984/3048|542/2526|181/841||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|12/33|n.2522A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|11/24|n.2336A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|11/23|n.2326A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|11/33|n.2326A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|11/33|n.2342A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=282;p3_1000G_AF=0.0563099;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=20383;p3_1000G_EAS_AF=0.0675;p3_1000G_EUR_AF=0.0089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55144466;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=302,3634;ESP6500_AA_GTC=11,280,1677;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=99;ESP6500_EA_AC=24,8262;ESP6500_EA_GTC=0,24,4119;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039464.2:missense;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54678793;ESP6500_GS=26;ESP6500_GTC=11,304,5796;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.1988A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(K663R);ESP6500_MAF=0.2896,7.6728,2.6673;ESP6500_PH=possibly-damaging:0.932;ESP6500_TAC=326,11896	GT:AD:DP:GQ:PL	0/1:23,13:36:99:334,0,662
chr1	54692535	rs2304313	C	T	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.654;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.412;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.397;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304313;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|16/24|c.2823C>T|p.His941His|3161/4390|2823/3972|941/1323||,T|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|14/22|c.1377C>T|p.His459His|1819/3048|1377/2526|459/841||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|17/33|n.3357C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|16/24|n.3171C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|15/23|n.3006C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|16/33|n.3161C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|16/33|n.3177C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=323;p3_1000G_AF=0.0644968;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=16514;p3_1000G_EAS_AF=0.1776;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55158208;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=233,3819;ESP6500_AA_GTC=6,221,1799;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=9,8355;ESP6500_EA_GTC=0,9,4173;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:coding-synonymous;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54692535;ESP6500_GTC=6,230,5972;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.2823C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(H941);ESP6500_MAF=0.1076,5.7502,1.9491;ESP6500_TAC=242,12174	GT:AD:DP:GQ:PL	0/1:16,15:31:99:355,0,405
chr1	54692551	rs2304312	T	C	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.839;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.93;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304312;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|16/24|c.2839T>C|p.Leu947Leu|3177/4390|2839/3972|947/1323||,C|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|14/22|c.1393T>C|p.Leu465Leu|1835/3048|1393/2526|465/841||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|17/33|n.3373T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|16/24|n.3187T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|15/23|n.3022T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|16/33|n.3177T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|16/33|n.3193T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=465;p3_1000G_AF=0.0928514;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=16604;p3_1000G_EAS_AF=0.1776;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55158224;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=617,3349;ESP6500_AA_GTC=49,519,1415;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=46;ESP6500_EA_AC=10,8310;ESP6500_EA_GTC=0,10,4150;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:coding-synonymous;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54692551;ESP6500_GTC=49,529,5565;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.2839T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(L947);ESP6500_MAF=0.1202,15.5572,5.1034;ESP6500_TAC=627,11659	GT:AD:DP:GQ:PL	0/1:10,11:21:99:243,0,248
chr1	54695370	rs75529143	C	T	288.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.944;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.242;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-1.495;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75529143;dbSNPBuildID=131;ANN=T|splice_region_variant&intron_variant|LOW|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|16/23|c.2850-6C>T||||||,T|splice_region_variant&intron_variant|LOW|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|17/32|n.3384-6C>T||||||,T|splice_region_variant&intron_variant|LOW|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|14/21|c.1404-6C>T||||||,T|splice_region_variant&intron_variant|LOW|MROH7|MROH7|transcript|NR_026782.2|pseudogene|16/23|n.3198-6C>T||||||,T|splice_region_variant&intron_variant|LOW|MROH7|MROH7|transcript|NR_111931.1|pseudogene|15/22|n.3033-6C>T||||||,T|splice_region_variant&intron_variant|LOW|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|16/32|n.3188-6C>T||||||,T|splice_region_variant&intron_variant|LOW|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|16/32|n.3204-6C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=251;p3_1000G_AF=0.0501198;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=16863;p3_1000G_EAS_AF=0.1776;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55161043;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA_AC=5,4057;ESP6500_AA_GTC=0,5,2026;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=1.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=27;ESP6500_EA_AC=2,8348;ESP6500_EA_GTC=0,2,4173;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:intron;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54695370;ESP6500_GTC=0,7,6199;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.2850-6C>T;ESP6500_MAF=0.024,0.1231,0.0564;ESP6500_TAC=7,12405	GT:AD:DP:GQ:PL	0/1:8,11:19:99:317,0,175
chr1	54702100	rs646356	T	A	425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs646356;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|20/24|c.3296T>A|p.Val1099Asp|3634/4390|3296/3972|1099/1323||,A|missense_variant|MODERATE|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|18/22|c.1850T>A|p.Val617Asp|2292/3048|1850/2526|617/841||,A|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|21/33|n.3830T>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|20/24|n.3644T>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|19/23|n.3479T>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|20/33|n.3634T>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|20/33|n.3650T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4597;p3_1000G_AF=0.917931;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=17507;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.832;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55167773;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3994,134;ESP6500_AA_GTC=1935,124,5;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=2.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=36;ESP6500_EA_AC=7013,1391;ESP6500_EA_GTC=2908,1197,97;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039464.2:missense;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54702100;ESP6500_GS=152;ESP6500_GTC=4843,1321,102;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.3296T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(V1099D);ESP6500_MAF=16.5516,3.2461,12.1688;ESP6500_PH=benign:0.0;ESP6500_TAC=11007,1525	GT:AD:DP:GQ:PL	1/1:0,15:15:45:454,45,0
chr1	54702251	rs3816070	T	C	132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.054;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816070;dbSNPBuildID=107;ANN=C|splice_region_variant&intron_variant|LOW|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|20/23|c.3441+6T>C||||||,C|splice_region_variant&intron_variant|LOW|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|21/32|n.3975+6T>C||||||,C|splice_region_variant&intron_variant|LOW|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|18/21|c.1995+6T>C||||||,C|splice_region_variant&intron_variant|LOW|MROH7|MROH7|transcript|NR_026782.2|pseudogene|20/23|n.3789+6T>C||||||,C|splice_region_variant&intron_variant|LOW|MROH7|MROH7|transcript|NR_111931.1|pseudogene|19/22|n.3624+6T>C||||||,C|splice_region_variant&intron_variant|LOW|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|20/32|n.3779+6T>C||||||,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|20/32|n.3786+15T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=379;p3_1000G_AF=0.0756789;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=15144;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55167924;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=165,4005;ESP6500_AA_GTC=2,161,1922;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=17;ESP6500_EA_AC=7,8399;ESP6500_EA_GTC=0,7,4196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:intron;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54702251;ESP6500_GTC=2,168,6118;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.3441+6T>C;ESP6500_MAF=0.0833,3.9568,1.3677;ESP6500_TAC=172,12404	GT:AD:DP:GQ:PL	0/1:5,6:11:99:161,0,117
chr1	54702625	rs3765018	G	A	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.798;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.563;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=-0.381;SOR=0.202;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765018;dbSNPBuildID=107;ANN=A|splice_region_variant&synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|21/24|c.3444G>A|p.Lys1148Lys|3782/4390|3444/3972|1148/1323||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|22/33|n.3978G>A||||||,A|splice_region_variant&synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|19/22|c.1998G>A|p.Lys666Lys|2440/3048|1998/2526|666/841||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW|MROH7|MROH7|transcript|NR_026782.2|pseudogene|21/24|n.3792G>A||||||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW|MROH7|MROH7|transcript|NR_111931.1|pseudogene|20/23|n.3627G>A||||||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|21/33|n.3782G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|20/32|n.3786+389G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=409;p3_1000G_AF=0.0816693;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=15953;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55168298;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=232,3526;ESP6500_AA_GTC=8,216,1655;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=108;ESP6500_EA_AC=10,8236;ESP6500_EA_GTC=0,10,4113;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:coding-synonymous;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54702625;ESP6500_GTC=8,226,5768;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.3444G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(K1148);ESP6500_MAF=0.1213,6.1735,2.016;ESP6500_TAC=242,11762	GT:AD:DP:GQ:PL	0/1:23,13:36:99:233,0,688
chr1	54702721	rs3765017	A	G	231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=-0.61;SOR=0.72;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765017;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001039464.3|protein_coding|21/24|c.3540A>G|p.Thr1180Thr|3878/4390|3540/3972|1180/1323||,G|synonymous_variant|LOW|MROH7|MROH7|transcript|NM_001291332.1|protein_coding|19/22|c.2094A>G|p.Thr698Thr|2536/3048|2094/2526|698/841||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|20/32|n.3786+485A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|22/33|n.4074A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_026782.2|pseudogene|21/24|n.3888A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7|MROH7|transcript|NR_111931.1|pseudogene|20/23|n.3723A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|21/33|n.3878A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=410;p3_1000G_AF=0.081869;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=16108;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55168394;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=249,3945;ESP6500_AA_GTC=8,233,1856;ESP6500_CDS_SIZES=NM_001039464.2:3972;ESP6500_CG=-10.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=84;ESP6500_EA_AC=12,8440;ESP6500_EA_GTC=0,12,4214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039464.2:coding-synonymous;ESP6500_GL=HEATR8;ESP6500_GRCh38_POSITION=1:54702721;ESP6500_GTC=8,245,6070;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001039464.2:c.3540A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001039464.2:p.(T1180);ESP6500_MAF=0.142,5.9371,2.0639;ESP6500_TAC=261,12385	GT:AD:DP:GQ:PL	0/1:24,10:34:99:260,0,615
chr1	54715807	rs28384498	A	G	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.11;ReadPosRankSum=0.792;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28384498;dbSNPBuildID=125;ANN=G|upstream_gene_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding||c.-102A>G|||||15|,G|upstream_gene_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding||c.-102A>G|||||15|,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|24/32|n.4289+197A>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|24/32|n.4156+197A>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|23/32|n.4040+197A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=672;p3_1000G_AF=0.134185;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=13199;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55181480;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:64:64,0,173
chr1	54716556	rs3820104	A	G	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.44;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=5.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.74;ReadPosRankSum=0.323;SOR=2.461;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820104;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|24/32|n.4290-44A>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|1/9|c.112-44A>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|24/32|n.4157-44A>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|23/32|n.4041-44A>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|1/7|c.112-44A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=261;p3_1000G_AF=0.0521166;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=20738;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55182229;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=9,4397;ESP6500_AA_AGE=15.5+/-35.6;ESP6500_AA_GTC=0,9,2194;ESP6500_CDS_SIZES=NM_004623.4:1164;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=60;ESP6500_EA_AC=31,8569;ESP6500_EA_AGE=22.2+/-67.0;ESP6500_EA_GTC=0,31,4269;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004623.4:intron;ESP6500_GL=TTC4;ESP6500_GRCh38_POSITION=1:54716556;ESP6500_GTC=0,40,6463;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004623.4:c.112-44A>G;ESP6500_MAF=0.3605,0.2043,0.3076;ESP6500_TAC=40,12966	GT:AD:DP:GQ:PL	0/1:15,5:20:99:123,0,364
chr1	54716627	rs1147990	T	A	805.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.79;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1147990;dbSNPBuildID=87;ANN=A|missense_variant|MODERATE|TTC4|TTC4|transcript|NM_004623.4|protein_coding|2/10|c.139T>A|p.Ser47Thr|226/2393|139/1164|47/387||,A|missense_variant|MODERATE|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|2/8|c.139T>A|p.Ser47Thr|226/2096|139/867|47/288||,A|sequence_feature|MODERATE|TTC4|TTC4|modified-residue:phosphoserine|NM_004623.4|protein_coding|2/10|c.139T>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|25/33|n.4317T>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|25/33|n.4184T>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|24/33|n.4068T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3347;p3_1000G_AF=0.668331;p3_1000G_AFR_AF=0.5038;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=20068;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.5477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55182300;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2432,1974;ESP6500_AA_AGE=555.1+/-379.2;ESP6500_AA_GTC=673,1086,444;ESP6500_CDS_SIZES=NM_004623.4:1164;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=89;ESP6500_EA_AC=4395,4205;ESP6500_EA_AGE=570.7+/-389.4;ESP6500_EA_GTC=1119,2157,1024;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004623.4:missense;ESP6500_GL=TTC4;ESP6500_GRCh38_POSITION=1:54716627;ESP6500_GS=58;ESP6500_GTC=1792,3243,1468;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004623.4:c.139T>A;ESP6500_HGVS_PROTEIN_VAR=NM_004623.4:p.(S47T);ESP6500_MAF=48.8953,44.8025,47.5088;ESP6500_PH=benign:0.001;ESP6500_TAC=6827,6179	GT:AD:DP:GQ:PL	1/1:0,29:29:87:834,87,0
chr1	54716775	rs3737822	G	A	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.96;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737822;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|25/32|n.4407+58G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|2/9|c.229+58G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|25/32|n.4274+58G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|24/32|n.4158+58G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|2/7|c.229+58G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=397;p3_1000G_AF=0.0792732;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=21929;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55182448;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:99:101,0,103
chr1	54717459	rs3766415	A	G	280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.6;ReadPosRankSum=1.14;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766415;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|25/32|n.4408-33A>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|2/9|c.230-33A>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|25/32|n.4275-33A>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|24/32|n.4159-33A>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|2/7|c.230-33A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=652;p3_1000G_AF=0.130192;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=18708;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55183132;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=755,3625;ESP6500_AA_GTC=72,611,1507;ESP6500_CDS_SIZES=NM_004623.4:1164;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=23;ESP6500_EA_AC=433,8167;ESP6500_EA_GTC=12,409,3879;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004623.4:intron;ESP6500_GL=TTC4;ESP6500_GRCh38_POSITION=1:54717459;ESP6500_GTC=84,1020,5386;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004623.4:c.230-33A>G;ESP6500_MAF=5.0349,17.2374,9.1525;ESP6500_TAC=1188,11792	GT:AD:DP:GQ:PL	0/1:4,9:13:99:309,0,119
chr1	54721013	rs10489663	G	A	45.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10489663;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|26/32|n.4570-150G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|3/9|c.392-150G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|26/32|n.4437-150G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|25/32|n.4321-150G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|3/7|c.392-150G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=652;p3_1000G_AF=0.130192;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=17438;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55186686;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:73,6,0
chr1	54721252	rs3737825	G	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.022;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-0.04;SOR=0.682;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737825;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|27/32|n.4647+12G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|4/9|c.469+12G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|27/32|n.4514+12G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|26/32|n.4398+12G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|4/7|c.469+12G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=652;p3_1000G_AF=0.130192;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=15958;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55186925;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=796,3610;ESP6500_AA_AGE=750.0+/-412.1;ESP6500_AA_GTC=80,636,1487;ESP6500_CDS_SIZES=NM_004623.4:1164;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=66;ESP6500_EA_AC=437,8163;ESP6500_EA_AGE=799.1+/-407.4;ESP6500_EA_GTC=11,415,3874;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004623.4:intron;ESP6500_GL=TTC4;ESP6500_GRCh38_POSITION=1:54721252;ESP6500_GTC=91,1051,5361;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004623.4:c.469+12G>A;ESP6500_MAF=5.0814,18.0663,9.4802;ESP6500_TAC=1233,11773	GT:AD:DP:GQ:PL	0/1:20,15:35:99:337,0,522
chr1	54722576	rs17110982	G	A	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.963;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.431;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17110982;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|27/32|n.4648-99G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|4/9|c.470-99G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|27/32|n.4515-99G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|26/32|n.4399-99G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|4/7|c.470-99G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=387;p3_1000G_AF=0.0772764;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=20610;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55188249;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:173,0,225
chr1	54722596	rs12092998	G	A	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.212;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.348;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12092998;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|27/32|n.4648-79G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|4/9|c.470-79G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|27/32|n.4515-79G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|26/32|n.4399-79G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|4/7|c.470-79G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=652;p3_1000G_AF=0.130192;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=19548;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55188269;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:186,0,267
chr1	54722709	rs11550481	C	T	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.229;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.885;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=0.672;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11550481;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|TTC4|TTC4|transcript|NM_004623.4|protein_coding|5/10|c.504C>T|p.Ala168Ala|591/2393|504/1164|168/387||,T|synonymous_variant|LOW|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|5/8|c.504C>T|p.Ala168Ala|591/2096|504/867|168/288||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|28/33|n.4682C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|28/33|n.4549C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|27/33|n.4433C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=648;p3_1000G_AF=0.129393;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=20579;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55188382;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=796,3610;ESP6500_AA_AGE=751.5+/-412.2;ESP6500_AA_GTC=81,634,1488;ESP6500_CDS_SIZES=NM_004623.4:1164;ESP6500_CG=-10.3;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=142;ESP6500_EA_AC=436,8164;ESP6500_EA_AGE=800.0+/-407.4;ESP6500_EA_GTC=10,416,3874;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004623.4:coding-synonymous;ESP6500_GL=TTC4;ESP6500_GRCh38_POSITION=1:54722709;ESP6500_GTC=91,1050,5362;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004623.4:c.504C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004623.4:p.(A168);ESP6500_MAF=5.0698,18.0663,9.4726;ESP6500_TAC=1232,11774	GT:AD:DP:GQ:PL	0/1:15,7:22:99:140,0,457
chr1	54722819	rs201524669	CAATTAGCATTTGCTAATTAGCAGT	C	15.85	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=-0.459;SOR=0.26;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201524669;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|28/32|n.4772+31_4772+54delTGCTAATTAGCAGTAATTAGCATT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|5/9|c.594+31_594+54delTGCTAATTAGCAGTAATTAGCATT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|28/32|n.4639+31_4639+54delTGCTAATTAGCAGTAATTAGCATT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|27/32|n.4523+31_4523+54delTGCTAATTAGCAGTAATTAGCATT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|5/7|c.594+31_594+54delTGCTAATTAGCAGTAATTAGCATT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=261;p3_1000G_AF=0.0521166;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=27846;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55188492;p3_1000G_GRCH37_REF=CAATTAGCATTTGCTAATTAGCAGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=INDEL;ESP6500_AA_AC=9,4257;ESP6500_AA_GTC=0,9,2124;ESP6500_CDS_SIZES=NM_004623.4:1164;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DP=79;ESP6500_EA_AC=22,8232;ESP6500_EA_GTC=0,22,4105;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004623.4:intron;ESP6500_GL=TTC4;ESP6500_GRCh38_POSITION=1:54722819;ESP6500_GTC=0,31,6229;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004623.4:c.594+21_594+44del24;ESP6500_MAF=0.2665,0.211,0.2476;ESP6500_TAC=31,12489	GT:AD:DP:GQ:PL	0/1:11,2:13:53:53,0,2433
chr1	54728515	rs4462191	C	G	464.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.109;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.759;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4462191;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|29/32|n.4859+83C>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|6/9|c.681+83C>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|29/32|n.4726+83C>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|28/32|n.4610+83C>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|6/7|c.681+83C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=474;p3_1000G_AF=0.0946486;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=21302;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55194188;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,17:27:99:493,0,307
chr1	54733747	rs573252219;rs752226983;rs878902611	ATTTTTTTT	A	143.94	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144,147,142;ANN=A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|31/32|n.5156+56_5156+63delTTTTTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|8/9|c.978+56_978+63delTTTTTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|31/32|n.5023+56_5023+63delTTTTTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|31/32|n.4802+56_4802+63delTTTTTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|6/7|c.682-3816_682-3809delTTTTTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,4:4:13:181,13,0
chr1	54737483	rs3737830	A	G	86.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=-1.036;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737830;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|31/32|n.5157-99A>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|8/9|c.979-99A>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|31/32|n.5024-99A>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|31/32|n.4803-99A>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|6/7|c.682-99A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=799;p3_1000G_AF=0.159545;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=20025;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55203156;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,3:5:58:0|1:54737462_A_G:115,0,58
chr1	54737757	rs12071624	T	G	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.006;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=0.108;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12071624;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|32/32|n.5239+93T>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|9/9|c.1061+93T>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|32/32|n.5106+93T>G||||||,G|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|32/32|n.4885+93T>G||||||,G|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|7/7|c.764+93T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=801;p3_1000G_AF=0.159944;p3_1000G_AFR_AF=0.2814;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=19386;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55203430;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:99:0|1:54737757_T_G:148,0,180
chr1	54737760	rs12066201	G	A	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.96;ReadPosRankSum=-0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12066201;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|32/32|n.5239+96G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|9/9|c.1061+96G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|32/32|n.5106+96G>A||||||,A|intron_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|32/32|n.4885+96G>A||||||,A|intron_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|7/7|c.764+96G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=797;p3_1000G_AF=0.159145;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=19471;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55203433;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,4:6:99:0|1:54737757_T_G:148,0,180
chr1	54741543	rs41297863	T	C	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.899;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=0.782;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41297863;dbSNPBuildID=127;ANN=C|3_prime_UTR_variant|MODIFIER|TTC4|TTC4|transcript|NM_004623.4|protein_coding|10/10|c.*30T>C|||||30|,C|3_prime_UTR_variant|MODIFIER|TTC4|TTC4|transcript|NM_001291333.1|protein_coding|8/8|c.*30T>C|||||30|,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037639.2|pseudogene|33/33|n.5372T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037640.2|pseudogene|33/33|n.5239T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MROH7-TTC4|MROH7-TTC4|transcript|NR_037641.2|pseudogene|33/33|n.5018T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=802;p3_1000G_AF=0.160144;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=19686;p3_1000G_EAS_AF=0.1319;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55207216;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1165,3241;ESP6500_AA_AGE=709.1+/-407.7;ESP6500_AA_GTC=158,849,1196;ESP6500_CDS_SIZES=NM_004623.4:1164;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=47;ESP6500_EA_AC=439,8161;ESP6500_EA_AGE=797.5+/-407.4;ESP6500_EA_GTC=11,417,3872;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004623.4:utr-3;ESP6500_GL=TTC4;ESP6500_GRCh38_POSITION=1:54741543;ESP6500_GTC=169,1266,5068;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004623.4:c.*30T>C;ESP6500_MAF=5.1047,26.4412,12.3328;ESP6500_TAC=1604,11402	GT:AD:DP:GQ:PL	0/1:13,7:20:99:169,0,323
chr1	54781101	rs76255804	C	G	290.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.08;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76255804;dbSNPBuildID=131;ANN=G|3_prime_UTR_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|7/7|c.*142G>C|||||142|,G|downstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding||c.*4445G>C|||||3450|;p3_1000G_AA=C|||;p3_1000G_AC=366;p3_1000G_AF=0.0730831;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=13047;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0398;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55246774;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:319,30,0
chr1	54781424	rs2286203	G	A	1584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.3;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2286203;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|7/7|c.1529C>T|p.Ala510Val|1634/1979|1529/1710|510/569||,A|downstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding||c.*4122C>T|||||3127|;p3_1000G_AA=G|||;p3_1000G_AC=728;p3_1000G_AF=0.145367;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=8825;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55247097;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1613,168,0
chr1	54781845	rs3815225	C	A	395.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3815225;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding||c.*3701G>T|||||2706|,A|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|6/6|c.1174-66G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1416;p3_1000G_AF=0.282748;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=16830;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55247518;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:424,39,0
chr1	54785011	rs2286202	A	G	950.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2286202;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding|6/6|c.*535T>C|||||535|,G|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|5/6|c.1020+972T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1442;p3_1000G_AF=0.287939;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=22045;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55250684;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:979,84,0
chr1	54785779	rs2270001	C	T	128.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270001;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|5/6|c.1020+204G>A||||||,T|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding|5/5|c.1021-135G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1418;p3_1000G_AF=0.283147;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=19521;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55251452;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:156,12,0
chr1	54786016	rs586462	T	C	1511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.64;SOR=1.094;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs586462;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|5/7|c.987A>G|p.Glu329Glu|1092/1979|987/1710|329/569||,C|synonymous_variant|LOW|TTC22|TTC22|transcript|NM_017904.3|protein_coding|5/6|c.987A>G|p.Glu329Glu|1092/2219|987/1119|329/372||;p3_1000G_AA=C|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18512;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55251689;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4369,37;ESP6500_AA_AGE=40.0+/-72.8;ESP6500_AA_GTC=2167,35,1;ESP6500_CDS_SIZES=NM_017904.3:1119,NM_001114108.1:1710;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=72;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017904.3:coding-synonymous,NM_001114108.1:coding-synonymous;ESP6500_GL=TTC22;ESP6500_GRCh38_POSITION=1:54786016;ESP6500_GTC=6467,35,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017904.3:c.987A>G,NM_001114108.1:c.987A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017904.3:p.(E329),NM_001114108.1:p.(E329);ESP6500_MAF=0.0,0.8398,0.2845;ESP6500_TAC=12969,37	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1540,153,0
chr1	54787673	rs2269999	G	A	752.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2269999;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|3/6|c.739+38C>T||||||,A|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding|3/5|c.739+38C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1650;p3_1000G_AF=0.329473;p3_1000G_AFR_AF=0.3351;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=18895;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55253346;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1395,3001;ESP6500_AA_GTC=224,947,1027;ESP6500_CDS_SIZES=NM_017904.3:1119,NM_001114108.1:1710;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=1976,6608;ESP6500_EA_GTC=236,1504,2552;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017904.3:intron,NM_001114108.1:intron;ESP6500_GL=TTC22;ESP6500_GRCh38_POSITION=1:54787673;ESP6500_GTC=460,2451,3579;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017904.3:c.739+38C>T,NM_001114108.1:c.739+38C>T;ESP6500_MAF=23.0196,31.7334,25.9707;ESP6500_TAC=3371,9609	GT:AD:DP:GQ:PL	1/1:0,22:22:66:781,66,0
chr1	54787902	rs665118	T	C	1229.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs665118;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|2/6|c.624-76A>G||||||,C|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding|2/5|c.624-76A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15740;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55253575;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1258,102,0
chr1	54787921	rs2269998	G	A	1328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=2.191;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2269998;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|2/6|c.624-95C>T||||||,A|intron_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding|2/5|c.624-95C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1311;p3_1000G_AF=0.261781;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=14081;p3_1000G_EAS_AF=0.5149;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55253594;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1357,120,0
chr1	54801124	rs671108	G	C	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.381;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=5.514;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-1.027;SOR=1.561;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs671108;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|TTC22|TTC22|transcript|NM_001114108.1|protein_coding|1/7|c.40C>G|p.Leu14Val|145/1979|40/1710|14/569||,C|missense_variant|MODERATE|TTC22|TTC22|transcript|NM_017904.3|protein_coding|1/6|c.40C>G|p.Leu14Val|145/2219|40/1119|14/372||,C|upstream_gene_variant|MODIFIER|LEXM|LEXM|transcript|NM_001110533.1|protein_coding||c.-4993G>C|||||4939|,C|upstream_gene_variant|MODIFIER|LEXM|LEXM|transcript|NM_152607.2|protein_coding||c.-4993G>C|||||4939|;p3_1000G_AA=G|||;p3_1000G_AC=769;p3_1000G_AF=0.153554;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=13377;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.2356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55266797;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=251,4141;ESP6500_AA_GTC=11,229,1956;ESP6500_CDS_SIZES=NM_017904.3:1119,NM_001114108.1:1710;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=27;ESP6500_EA_AC=1735,6841;ESP6500_EA_GTC=178,1379,2731;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017904.3:missense,NM_001114108.1:missense;ESP6500_GL=TTC22;ESP6500_GRCh38_POSITION=1:54801124;ESP6500_GS=32,32;ESP6500_GTC=189,1608,4687;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017904.3:c.40C>G,NM_001114108.1:c.40C>G;ESP6500_HGVS_PROTEIN_VAR=NM_017904.3:p.(L14V),NM_001114108.1:p.(L14V);ESP6500_MAF=20.2309,5.7149,15.3146;ESP6500_PH=probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=1986,10982	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,19:32:99:1|0:54801119_G_T:482,0,337
chr1	54806057	rs77971467	C	T	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.842;SOR=1.414;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77971467;dbSNPBuildID=132;ANN=T|upstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding||c.-4894G>A|||||4789|,T|upstream_gene_variant|MODIFIER|LEXM|LEXM|transcript|NM_001110533.1|protein_coding||c.-60C>T|||||6|,T|upstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding||c.-4894G>A|||||4789|,T|upstream_gene_variant|MODIFIER|LEXM|LEXM|transcript|NM_152607.2|protein_coding||c.-60C>T|||||6|,T|intergenic_region|MODIFIER|TTC22-LEXM|TTC22-LEXM|intergenic_region|TTC22-LEXM|||n.54806057C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=154;p3_1000G_AF=0.0307508;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=12329;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55271730;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:56:106,0,56
chr1	54806101	rs757581	A	G	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.54;ReadPosRankSum=0.366;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs757581;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|LEXM|LEXM|transcript|NM_001110533.1|protein_coding|1/10|c.-16A>G|||||16|,G|5_prime_UTR_variant|MODIFIER|LEXM|LEXM|transcript|NM_152607.2|protein_coding|1/11|c.-16A>G|||||16|,G|upstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding||c.-4938T>C|||||4833|,G|upstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding||c.-4938T>C|||||4833|;p3_1000G_AA=g|||;p3_1000G_AC=2755;p3_1000G_AF=0.55012;p3_1000G_AFR_AF=0.5847;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=10329;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.5964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55271774;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6656;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=2284,1646;ESP6500_AA_GTC=768,748,449;ESP6500_CDS_SIZES=NM_152607.2:1245,NM_001110533.1:1257;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=6;ESP6500_EA_AC=4503,3207;ESP6500_EA_GTC=1463,1577,815;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152607.2:utr-5,NM_001110533.1:utr-5;ESP6500_GL=C1orf177;ESP6500_GRCh38_POSITION=1:54806101;ESP6500_GTC=2231,2325,1264;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152607.2:c.-16A>G,NM_001110533.1:c.-16A>G;ESP6500_MAF=41.5953,41.883,41.6924;ESP6500_TAC=6787,4853	GT:AD:DP:GQ:PL	0/1:4,3:7:67:67,0,104
chr1	54806172	rs72895754	C	T	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.81;ReadPosRankSum=0.163;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72895754;dbSNPBuildID=130;ANN=T|missense_variant|MODERATE|LEXM|LEXM|transcript|NM_001110533.1|protein_coding|1/10|c.56C>T|p.Thr19Met|110/1702|56/1257|19/418||,T|missense_variant|MODERATE|LEXM|LEXM|transcript|NM_152607.2|protein_coding|1/11|c.56C>T|p.Thr19Met|110/1789|56/1245|19/414||,T|upstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding||c.-5009G>A|||||4904|,T|upstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding||c.-5009G>A|||||4904|;p3_1000G_AA=T|||;p3_1000G_AC=225;p3_1000G_AF=0.0449281;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=12134;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55271845;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=245,4067;ESP6500_AA_GTC=6,233,1917;ESP6500_CDS_SIZES=NM_152607.2:1245,NM_001110533.1:1257;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=11;ESP6500_EA_AC=10,8446;ESP6500_EA_GTC=0,10,4218;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152607.2:missense,NM_001110533.1:missense;ESP6500_GL=C1orf177;ESP6500_GRCh38_POSITION=1:54806172;ESP6500_GS=81,81;ESP6500_GTC=6,243,6135;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152607.2:c.56C>T,NM_001110533.1:c.56C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152607.2:p.(T19M),NM_001110533.1:p.(T19M);ESP6500_MAF=0.1183,5.6818,1.9972;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=255,12513	GT:AD:DP:GQ:PL	0/1:8,4:12:99:110,0,196
chr1	54806262	rs112383693	A	G	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.99;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.812;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112383693;dbSNPBuildID=132;ANN=G|upstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_001114108.1|protein_coding||c.-5099T>C|||||4994|,G|upstream_gene_variant|MODIFIER|TTC22|TTC22|transcript|NM_017904.3|protein_coding||c.-5099T>C|||||4994|,G|intron_variant|MODIFIER|LEXM|LEXM|transcript|NM_001110533.1|protein_coding|1/9|c.104+42A>G||||||,G|intron_variant|MODIFIER|LEXM|LEXM|transcript|NM_152607.2|protein_coding|1/10|c.104+42A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=226;p3_1000G_AF=0.0451278;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=13736;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55271935;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=180,4006;ESP6500_AA_GTC=4,172,1917;ESP6500_CDS_SIZES=NM_152607.2:1245,NM_001110533.1:1257;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=7;ESP6500_EA_AC=7,8199;ESP6500_EA_GTC=0,7,4096;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152607.2:intron,NM_001110533.1:intron;ESP6500_GL=C1orf177;ESP6500_GRCh38_POSITION=1:54806262;ESP6500_GTC=4,179,6013;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152607.2:c.104+42A>G,NM_001110533.1:c.104+42A>G;ESP6500_MAF=0.0853,4.3,1.509;ESP6500_TAC=187,12205	GT:AD:DP:GQ:PL	0/1:7,5:12:99:178,0,184
chr1	54806970	rs6666034	C	G	1212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=2.093;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.046;SOR=0.423;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6666034;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|LEXM|LEXM|transcript|NM_001110533.1|protein_coding|1/9|c.105-26C>G||||||,G|intron_variant|MODIFIER|LEXM|LEXM|transcript|NM_152607.2|protein_coding|1/10|c.105-26C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=736;p3_1000G_AF=0.146965;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=13000;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.1213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55272643;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=632,3774;ESP6500_AA_AGE=271.3+/-270.1;ESP6500_AA_GTC=55,522,1626;ESP6500_CDS_SIZES=NM_152607.2:1245,NM_001110533.1:1257;ESP6500_CG=2.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=137;ESP6500_EA_AC=1135,7465;ESP6500_EA_AGE=233.3+/-266.6;ESP6500_EA_GTC=75,985,3240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152607.2:intron,NM_001110533.1:intron;ESP6500_GL=C1orf177;ESP6500_GRCh38_POSITION=1:54806970;ESP6500_GTC=130,1507,4866;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152607.2:c.105-26C>G,NM_001110533.1:c.105-26C>G;ESP6500_MAF=13.1977,14.3441,13.586;ESP6500_TAC=1767,11239	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1241,0,1249
chr1	54807749	rs671022	A	T	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.91;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=1.09;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs671022;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|LEXM|LEXM|transcript|NM_001110533.1|protein_coding|3/9|c.357+59A>T||||||,T|intron_variant|MODIFIER|LEXM|LEXM|transcript|NM_152607.2|protein_coding|3/10|c.357+59A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=842;p3_1000G_AF=0.168131;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=18772;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55273422;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:295,0,149
chr1	54841828	rs41297871	A	G	516.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.11;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.488;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=1;SOR=1.516;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41297871;dbSNPBuildID=127;ANN=G|synonymous_variant|LOW|LEXM|LEXM|transcript|NM_001110533.1|protein_coding|10/10|c.1212A>G|p.Gly404Gly|1266/1702|1212/1257|404/418||,G|3_prime_UTR_variant|MODIFIER|LEXM|LEXM|transcript|NM_152607.2|protein_coding|11/11|c.*54A>G|||||152|;p3_1000G_AA=G|||;p3_1000G_AC=1154;p3_1000G_AF=0.230431;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=21304;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.2316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55307501;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0859;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=237,1147;ESP6500_AA_GTC=17,203,472;ESP6500_CDS_SIZES=NM_152607.2:1245,NM_001110533.1:1257;ESP6500_CG=-3.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=87;ESP6500_EA_AC=653,2529;ESP6500_EA_GTC=66,521,1004;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152607.2:utr-3,NM_001110533.1:coding-synonymous;ESP6500_GL=C1orf177;ESP6500_GRCh38_POSITION=1:54841828;ESP6500_GTC=83,724,1476;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152607.2:c.*152A>G,NM_001110533.1:c.1212A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001110533.1:p.(G404);ESP6500_MAF=20.5217,17.1243,19.4919;ESP6500_TAC=890,3676	GT:AD:DP:GQ:PL	0/1:18,16:34:99:545,0,501
chr1	54841967	rs59138759	C	T	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.751;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59138759;dbSNPBuildID=129;ANN=T|3_prime_UTR_variant|MODIFIER|LEXM|LEXM|transcript|NM_001110533.1|protein_coding|10/10|c.*94C>T|||||94|,T|3_prime_UTR_variant|MODIFIER|LEXM|LEXM|transcript|NM_152607.2|protein_coding|11/11|c.*193C>T|||||291|;p3_1000G_AA=C|||;p3_1000G_AC=1143;p3_1000G_AF=0.228235;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=19170;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.2227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55307640;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:145,0,148
chr1	54852435	rs667222	C	T	475.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.655;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=2.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.844;SOR=1.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs667222;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|DHCR24|DHCR24|transcript|NM_014762.3|protein_coding|8/8|c.1398-49G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1866;p3_1000G_AF=0.372604;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=19632;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.3191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55318108;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1695,2711;ESP6500_AA_AGE=511.4+/-367.8;ESP6500_AA_GTC=329,1037,837;ESP6500_CDS_SIZES=NM_014762.3:1551;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=44;ESP6500_EA_AC=2640,5960;ESP6500_EA_AGE=423.9+/-354.5;ESP6500_EA_GTC=428,1784,2088;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014762.3:intron;ESP6500_GL=DHCR24;ESP6500_GRCh38_POSITION=1:54852435;ESP6500_GTC=757,2821,2925;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014762.3:c.1398-49G>A;ESP6500_MAF=30.6977,38.4703,33.3308;ESP6500_TAC=4335,8671	GT:AD:DP:GQ:PL	0/1:13,18:31:99:504,0,341
chr1	54854229	rs718265;297654	A	G	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=0.285;SOR=0.49;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs718265;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|DHCR24|DHCR24|transcript|NM_014762.3|protein_coding|7/9|c.1026T>C|p.Ile342Ile|1155/4286|1026/1551|342/516||;p3_1000G_AA=G|||;p3_1000G_AC=3143;p3_1000G_AF=0.627596;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=21670;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.6809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55319902;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8231;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2702,1704;ESP6500_AA_AGE=513.6+/-368.4;ESP6500_AA_GTC=830,1042,331;ESP6500_CDS_SIZES=NM_014762.3:1551;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=78;ESP6500_EA_AC=5962,2638;ESP6500_EA_AGE=424.5+/-354.7;ESP6500_EA_GTC=2088,1786,426;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014762.3:coding-synonymous;ESP6500_GL=DHCR24;ESP6500_GRCh38_POSITION=1:54854229;ESP6500_GTC=2918,2828,757;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014762.3:c.1026T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014762.3:p.(I342);ESP6500_MAF=30.6744,38.6745,33.3846;ESP6500_TAC=8664,4342;CLINVAR_ALLELEID=281388;CLINVAR_CLNDISDB=MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107;CLINVAR_CLNDN=Desmosterolosis;CLINVAR_CLNHGVS=NC_000001.11:g.54854229A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1443;CLINVAR_GENEINFO=DHCR24:1718;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=718265	GT:AD:DP:GQ:PL	0/1:14,9:23:99:242,0,401
chr1	54865293	rs611057;297656	T	C	1202.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=1.236;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs611057;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|DHCR24|DHCR24|transcript|NM_014762.3|protein_coding|6/8|c.1020+10A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4951;p3_1000G_AF=0.988618;p3_1000G_AFR_AF=0.9592;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19068;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55330966;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4253,153;ESP6500_AA_AGE=101.2+/-139.8;ESP6500_AA_GTC=2051,151,1;ESP6500_CDS_SIZES=NM_014762.3:1551;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=69;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014762.3:intron;ESP6500_GL=DHCR24;ESP6500_GRCh38_POSITION=1:54865293;ESP6500_GTC=6347,155,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014762.3:c.1020+10A>G;ESP6500_MAF=0.0465,3.4725,1.2071;ESP6500_TAC=12849,157;CLINVAR_ALLELEID=282617;CLINVAR_CLNDISDB=MedGen:C1865596,OMIM:602398,Orphanet:ORPHA35107;CLINVAR_CLNDN=Desmosterolosis;CLINVAR_CLNHGVS=NC_000001.11:g.54865293T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1453;CLINVAR_GENEINFO=DHCR24:1718;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=611057	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1231,117,0
chr1	54871277	rs608458	C	G	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.498;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=5.071;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.42;SOR=0.126;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs608458;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|DHCR24|DHCR24|transcript|NM_014762.3|protein_coding|5/8|c.876+73G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2898;p3_1000G_AF=0.578674;p3_1000G_AFR_AF=0.5204;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=20410;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55336950;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,13:28:99:363,0,491
chr1	54871642	rs2303534	C	G	593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.755;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=3.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.654;SOR=0.259;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303534;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|DHCR24|DHCR24|transcript|NM_014762.3|protein_coding|4/8|c.613-29G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=269;p3_1000G_AF=0.0537141;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=21265;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55337315;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=247,4159;ESP6500_AA_AGE=143.1+/-178.2;ESP6500_AA_GTC=9,229,1965;ESP6500_CDS_SIZES=NM_014762.3:1551;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=6,8594;ESP6500_EA_AGE=5.0+/-18.6;ESP6500_EA_GTC=0,6,4294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014762.3:intron;ESP6500_GL=DHCR24;ESP6500_GRCh38_POSITION=1:54871642;ESP6500_GTC=9,235,6259;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014762.3:c.613-29G>C;ESP6500_MAF=0.0698,5.606,1.9453;ESP6500_TAC=253,12753	GT:AD:DP:GQ:PL	0/1:24,21:45:99:622,0,740
chr1	54871707	rs2303535	A	G	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.558;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303535;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|DHCR24|DHCR24|transcript|NM_014762.3|protein_coding|4/8|c.613-94T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=310;p3_1000G_AF=0.061901;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=20839;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55337380;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:299,0,384
chr1	54875283	rs2075389	G	C	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.605;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.098;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075389;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|DHCR24|DHCR24|transcript|NM_014762.3|protein_coding|3/8|c.494-72C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=178;p3_1000G_AF=0.0355431;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17837;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55340956;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,15:34:99:406,0,642
chr1	54875846	rs2075392	C	T	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.88;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-1.22;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075392;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|DHCR24|DHCR24|transcript|NM_014762.3|protein_coding|3/8|c.493+96G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=214;p3_1000G_AF=0.0427316;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=21066;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55341519;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:311,0,287
chr1	54980991	rs2253467	G	C	562.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.191;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.84;ReadPosRankSum=-0.302;SOR=1.449;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2253467;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|TMEM61|TMEM61|transcript|NM_182532.2|protein_coding|1/3|c.-75G>C|||||75|;p3_1000G_AA=G|||;p3_1000G_AC=3050;p3_1000G_AF=0.609026;p3_1000G_AFR_AF=0.4107;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=11336;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55446664;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=649,735;ESP6500_AA_GTC=159,331,202;ESP6500_CDS_SIZES=NM_182532.1:633;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=2510,672;ESP6500_EA_GTC=987,536,68;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182532.1:utr-5;ESP6500_GL=TMEM61;ESP6500_GRCh38_POSITION=1:54980991;ESP6500_GTC=1146,867,270;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_182532.1:c.-75G>C;ESP6500_MAF=21.1188,46.8931,30.8147;ESP6500_TAC=3159,1407	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,15:27:99:0|1:54980991_G_C:591,0,733
chr1	54980998	rs2253466	C	T	595.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.178;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.917;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=-0.078;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2253466;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|TMEM61|TMEM61|transcript|NM_182532.2|protein_coding|1/3|c.-68C>T|||||68|;p3_1000G_AA=C|||;p3_1000G_AC=3048;p3_1000G_AF=0.608626;p3_1000G_AFR_AF=0.4107;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=11646;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55446671;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=649,735;ESP6500_AA_GTC=159,331,202;ESP6500_CDS_SIZES=NM_182532.1:633;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=2510,672;ESP6500_EA_GTC=987,536,68;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182532.1:utr-5;ESP6500_GL=TMEM61;ESP6500_GRCh38_POSITION=1:54980998;ESP6500_GTC=1146,867,270;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182532.1:c.-68C>T;ESP6500_MAF=21.1188,46.8931,30.8147;ESP6500_TAC=3159,1407	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,16:29:99:0|1:54980991_G_C:624,0,730
chr1	54981024	rs2253465	G	A	487.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.471;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.072;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-2.536;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2253465;dbSNPBuildID=100;ANN=A|5_prime_UTR_variant|MODIFIER|TMEM61|TMEM61|transcript|NM_182532.2|protein_coding|1/3|c.-42G>A|||||42|;p3_1000G_AA=G|||;p3_1000G_AC=3047;p3_1000G_AF=0.608427;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=12167;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.7724;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55446697;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2053,2311;ESP6500_AA_GTC=488,1077,617;ESP6500_CDS_SIZES=NM_182532.1:633;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=6861,1701;ESP6500_EA_GTC=2763,1335,183;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182532.1:utr-5;ESP6500_GL=TMEM61;ESP6500_GRCh38_POSITION=1:54981024;ESP6500_GTC=3251,2412,800;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182532.1:c.-42G>A;ESP6500_MAF=19.8669,47.044,31.0382;ESP6500_TAC=8914,4012	GT:AD:DP:GQ:PL	0/1:16,19:35:99:516,0,399
chr1	54992037	rs2500326	G	A	905.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.831;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-1.153;SOR=0.583;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2500326;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TMEM61|TMEM61|transcript|NM_182532.2|protein_coding|3/3|c.567G>A|p.Ala189Ala|969/1225|567/633|189/210||;p3_1000G_AA=A|||;p3_1000G_AC=3944;p3_1000G_AF=0.78754;p3_1000G_AFR_AF=0.8162;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=16935;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.8002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55457710;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3628,778;ESP6500_AA_AGE=316.1+/-294.4;ESP6500_AA_GTC=1484,660,59;ESP6500_CDS_SIZES=NM_182532.1:633;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=6953,1647;ESP6500_EA_AGE=305.8+/-307.6;ESP6500_EA_GTC=2813,1327,160;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182532.1:coding-synonymous;ESP6500_GL=TMEM61;ESP6500_GRCh38_POSITION=1:54992037;ESP6500_GTC=4297,1987,219;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182532.1:c.567G>A;ESP6500_HGVS_PROTEIN_VAR=NM_182532.1:p.(A189);ESP6500_MAF=19.1512,17.6577,18.6452;ESP6500_TAC=10581,2425	GT:AD:DP:GQ:PL	0/1:26,36:62:99:934,0,635
chr1	54992142	rs2495513	C	T	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.279;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.59;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2495513;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|TMEM61|TMEM61|transcript|NM_182532.2|protein_coding|3/3|c.*39C>T|||||39|;p3_1000G_AA=T|||;p3_1000G_AC=3944;p3_1000G_AF=0.78754;p3_1000G_AFR_AF=0.8162;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=19385;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.8002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55457815;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.818;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3618,786;ESP6500_AA_GTC=1481,656,65;ESP6500_CDS_SIZES=NM_182532.1:633;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=6959,1637;ESP6500_EA_GTC=2820,1319,159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182532.1:utr-3;ESP6500_GL=TMEM61;ESP6500_GRCh38_POSITION=1:54992142;ESP6500_GTC=4301,1975,224;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182532.1:c.*39C>T;ESP6500_MAF=19.0437,17.8474,18.6385;ESP6500_TAC=10577,2423	GT:AD:DP:GQ:PL	0/1:17,21:38:99:521,0,422
chr1	54999070	rs2500340;297673	T	C	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-0.344;SOR=0.074;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2500340;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|BSND|BSND|transcript|NM_057176.2|protein_coding|1/4|c.-117T>C|||||117|;p3_1000G_AA=C|||;p3_1000G_AC=2975;p3_1000G_AF=0.59405;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=19955;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55464743;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP;CLINVAR_ALLELEID=280880;CLINVAR_CLNDISDB=MedGen:C0004775,Orphanet:ORPHA112;CLINVAR_CLNDN=Bartter's_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.54999070T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1461;CLINVAR_GENEINFO=BSND:7809;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2500340	GT:AD:DP:GQ:PL	0/1:11,11:22:99:352,0,346
chr1	54999117	rs2500341;297674	C	G	911.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.84;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=-1.161;SOR=0.759;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2500341;dbSNPBuildID=100;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|BSND|BSND|transcript|NM_057176.2|protein_coding|1/4|c.-70C>G||||||,G|5_prime_UTR_variant|MODIFIER|BSND|BSND|transcript|NM_057176.2|protein_coding|1/4|c.-70C>G|||||70|;p3_1000G_AA=G|||;p3_1000G_AC=2980;p3_1000G_AF=0.595048;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=19509;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55464790;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP;CLINVAR_ALLELEID=281402;CLINVAR_CLNDISDB=MedGen:C0004775,Orphanet:ORPHA112;CLINVAR_CLNDN=Bartter's_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.54999117C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1466;CLINVAR_GENEINFO=BSND:7809;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2500341	GT:AD:DP:GQ:PL	0/1:20,29:49:99:940,0,655
chr1	55008652	rs6682884;297681	A	C	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.919;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.237;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6682884;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|BSND|BSND|transcript|NM_057176.2|protein_coding|4/4|c.*24A>C|||||24|;p3_1000G_AA=a|||;p3_1000G_AC=1815;p3_1000G_AF=0.36242;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=19736;p3_1000G_EAS_AF=0.3343;p3_1000G_EUR_AF=0.3966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55474325;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA_AC=2178,2228;ESP6500_AA_AGE=581.4+/-385.4;ESP6500_AA_GTC=539,1100,564;ESP6500_CDS_SIZES=NM_057176.2:963;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=52;ESP6500_EA_AC=3629,4971;ESP6500_EA_AGE=522.5+/-380.1;ESP6500_EA_GTC=761,2107,1432;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057176.2:utr-3;ESP6500_GL=BSND;ESP6500_GRCh38_POSITION=1:55008652;ESP6500_GTC=1300,3207,1996;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_057176.2:c.*24A>C;ESP6500_MAF=42.1977,49.4326,44.6486;ESP6500_TAC=5807,7199;CLINVAR_AF_ESP=0.4465;CLINVAR_AF_EXAC=0.37550;CLINVAR_AF_TGP=0.3624;CLINVAR_ALLELEID=282935;CLINVAR_CLNDISDB=MedGen:C0004775,Orphanet:ORPHA112;CLINVAR_CLNDN=Bartter's_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.55008652A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1488;CLINVAR_GENEINFO=BSND:7809;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6682884	GT:AD:DP:GQ:PL	0/1:17,11:28:99:283,0,504
chr1	55040059	rs2495482;262904	A	G	1190.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2495482;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene||n.-163A>G|||||163|,G|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|1/11|c.207+15A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4550;p3_1000G_AF=0.908546;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=14770;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.9493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55505732;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3614,690;ESP6500_AA_GTC=1506,602,44;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=7993,435;ESP6500_EA_GTC=3794,405,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174936.3:intron;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55040059;ESP6500_GTC=5300,1007,59;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.207+15A>G;ESP6500_MAF=5.1614,16.0316,8.836;ESP6500_TAC=11607,1125;CLINVAR_ALLELEID=249984;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55040059A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Iberoamerican_FH_Network:PCSK9_017|Illumina_Clinical_Services_Laboratory,Illumina:1508;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2495482	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1219,102,0
chr1	55052188	rs613855	C	G	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.39;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.248;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs613855;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|3/11|c.524-90C>G||||||,G|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|1/9|n.183-90C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2448;p3_1000G_AF=0.488818;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=19530;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.4742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55517861;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,10:26:99:311,0,598
chr1	55052267	rs11800231;36671	G	A	623.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.406;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.228;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11800231;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|3/11|c.524-11G>A||||||,A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|1/9|n.183-11G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=415;p3_1000G_AF=0.0828674;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=19833;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0.0527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55517940;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=749,3657;ESP6500_AA_AGE=305.5+/-289.0;ESP6500_AA_GTC=64,621,1518;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...255738&amp%3Brs...11800231;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=394,8206;ESP6500_EA_AGE=126.8+/-185.2;ESP6500_EA_GTC=8,378,3914;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174936.3:intron;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55052267;ESP6500_GTC=72,999,5432;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.524-11G>A;ESP6500_MAF=4.5814,16.9995,8.7883;ESP6500_TAC=1143,11863;CLINVAR_AF_ESP=0.0879;CLINVAR_AF_TGP=0.0829;CLINVAR_ALLELEID=45332;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55052267G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1515;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11800231	GT:AD:DP:GQ:PL	0/1:31,26:57:99:652,0,756
chr1	55052420	rs11800243;262906	G	A	1209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.69;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=4;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.239;SOR=1.03;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11800243;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|4/11|c.657+9G>A||||||,A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|2/9|n.316+9G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=196;p3_1000G_AF=0.0391374;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=17592;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0.0527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55518093;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=210,4196;ESP6500_AA_AGE=125.3+/-162.5;ESP6500_AA_GTC=6,198,1999;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=44;ESP6500_EA_AC=385,8215;ESP6500_EA_AGE=125.0+/-183.6;ESP6500_EA_GTC=8,369,3923;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174936.3:intron;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55052420;ESP6500_GTC=14,567,5922;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.657+9G>A;ESP6500_MAF=4.4767,4.7662,4.5748;ESP6500_TAC=595,12411;CLINVAR_AF_ESP=0.0458;CLINVAR_AF_EXAC=0.04240;CLINVAR_AF_TGP=0.0391;CLINVAR_ALLELEID=249986;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55052420G>A;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(6),Likely_benign(2),Uncertain_significance(1);CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1529;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11800243	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1238,0,1071
chr1	55052487	rs11806638;265924	C	A	1057.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.17;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=1.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=1.04;SOR=0.93;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11806638;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|4/11|c.657+76C>A||||||,A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|2/9|n.316+76C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=672;p3_1000G_AF=0.134185;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=16567;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0.0636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55518160;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0644;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1342;CLINVAR_ALLELEID=260600;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLINVAR_CLNDN=Familial_hypercholesterolemia;CLINVAR_CLNHGVS=NC_000001.11:g.55052487C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11806638	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1086,0,1003
chr1	55052614	rs11800265;265930	G	A	846.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.557;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=12.151;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.427;SOR=1.016;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11800265;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|4/11|c.658-36G>A||||||,A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|2/9|n.317-36G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=196;p3_1000G_AF=0.0391374;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=17880;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0.0537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55518287;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=179,4221;ESP6500_AA_GTC=6,167,2027;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=29;ESP6500_EA_AC=382,8216;ESP6500_EA_GTC=8,366,3925;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174936.3:intron;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55052614;ESP6500_GTC=14,533,5952;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.658-36G>A;ESP6500_MAF=4.4429,4.0682,4.316;ESP6500_TAC=561,12437;CLINVAR_AF_ESP=0.0432;CLINVAR_AF_EXAC=0.04242;CLINVAR_AF_TGP=0.0391;CLINVAR_ALLELEID=260606;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLINVAR_CLNDN=Familial_hypercholesterolemia;CLINVAR_CLNHGVS=NC_000001.11:g.55052614G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11800265	GT:AD:DP:GQ:PL	0/1:42,31:73:99:875,0,1160
chr1	55052643	rs2483205;36672	C	T	954.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.913;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=4.805;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=1.56;SOR=0.599;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2483205;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|4/11|c.658-7C>T||||||,T|splice_region_variant&intron_variant|LOW|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|2/9|n.317-7C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1974;p3_1000G_AF=0.394169;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=18499;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.4503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55518316;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2135,2271;ESP6500_AA_AGE=544.3+/-376.5;ESP6500_AA_GTC=541,1053,609;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...255738&amp%3Brs...2483205;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=36;ESP6500_EA_AC=3824,4776;ESP6500_EA_AGE=522.2+/-380.1;ESP6500_EA_GTC=846,2132,1322;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174936.3:intron;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55052643;ESP6500_GTC=1387,3185,1931;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.658-7C>T;ESP6500_MAF=44.4651,48.4567,45.8173;ESP6500_TAC=5959,7047;CLINVAR_AF_ESP=0.4582;CLINVAR_AF_EXAC=0.42759;CLINVAR_AF_TGP=0.3942;CLINVAR_ALLELEID=45333;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55052643C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Iberoamerican_FH_Network:PCSK9_051|Illumina_Clinical_Services_Laboratory,Illumina:1518;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2483205	GT:AD:DP:GQ:PL	0/1:27,41:68:99:983,0,625
chr1	55052794	rs2495477;262908	A	G	1058.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2495477;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|5/11|c.799+3A>G||||||,G|splice_region_variant&intron_variant|LOW|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|3/9|n.458+3A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2335;p3_1000G_AF=0.466254;p3_1000G_AFR_AF=0.7526;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=18173;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55518467;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3100,1306;ESP6500_AA_GTC=1105,890,208;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=36;ESP6500_EA_AC=3456,5142;ESP6500_EA_GTC=662,2132,1505;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174936.3:intron;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55052794;ESP6500_GTC=1767,3022,1713;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.799+3A>G;ESP6500_MAF=40.1954,29.6414,49.5847;ESP6500_TAC=6556,6448;CLINVAR_AF_EXAC=0.43115;CLINVAR_AF_TGP=0.4663;CLINVAR_ALLELEID=249988;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55052794A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Iberoamerican_FH_Network:PCSK9_061|Illumina_Clinical_Services_Laboratory,Illumina:1526;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2495477	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1087,84,0
chr1	55052855	rs494198;265935	C	A	132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.026;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs494198;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|5/11|c.799+64C>A||||||,A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|3/9|n.458+64C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3151;p3_1000G_AF=0.629193;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=16884;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55518528;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;CLINVAR_ALLELEID=260611;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLINVAR_CLNDN=Familial_hypercholesterolemia;CLINVAR_CLNHGVS=NC_000001.11:g.55052855C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=494198	GT:AD:DP:GQ:PL	0/1:7,6:13:99:161,0,258
chr1	55057360	rs509504;262899	A	G	2491.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs509504;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|7/12|c.1026A>G|p.Gln342Gln|1388/3710|1026/2079|342/692||,G|non_coding_transcript_exon_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|5/10|n.685A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4917;p3_1000G_AF=0.981829;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17430;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55523033;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4144,262;ESP6500_AA_AGE=151.0+/-185.0;ESP6500_AA_GTC=1952,240,11;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=60;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174936.3:coding-synonymous;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55057360;ESP6500_GTC=6250,242,11;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.1026A>G;ESP6500_HGVS_PROTEIN_VAR=NM_174936.3:p.(Q342);ESP6500_MAF=0.0233,5.9464,2.0298;ESP6500_TAC=12742,264;CLINVAR_ALLELEID=249989;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55057360A>G;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(5),Likely_benign(2),Uncertain_significance(1);CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1524;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=509504	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2520,216,0
chr1	55058311	rs584626	C	T	648.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.15;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs584626;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|8/11|c.1354+102C>T||||||,T|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|6/9|n.961+154C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4322;p3_1000G_AF=0.863019;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=20103;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55523984;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:677,57,0
chr1	55058443	rs585131;265943	C	T	1567.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=0.952;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs585131;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|8/11|c.1355-56C>T||||||,T|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|6/9|n.962-56C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4353;p3_1000G_AF=0.869209;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=17770;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55524116;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=SNP;CLINVAR_ALLELEID=260619;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLINVAR_CLNDN=Familial_hypercholesterolemia;CLINVAR_CLNHGVS=NC_000001.11:g.55058443C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=585131	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1596,150,0
chr1	55058524	rs540796;201126	A	G	1638.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=0.919;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs540796;dbSNPBuildID=83;ANN=G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|2P4E:A_460-A_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|2PMW:B_460-B_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|2QTW:B_460-B_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|3BPS:A_460-A_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|3GCW:A_460-A_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|3GCX:A_460-A_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|3H42:B_460-B_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|3SQO:A_460-A_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|4NE9:A_460-A_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|structural_interaction_variant|HIGH|PCSK9|PCSK9|interaction|4NE9:B_460-B_524:NM_174936.3|protein_coding|9/12|c.1380A>G||||||,G|synonymous_variant|LOW|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|9/12|c.1380A>G|p.Val460Val|1742/3710|1380/2079|460/692||,G|non_coding_transcript_exon_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|7/10|n.987A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4353;p3_1000G_AF=0.869209;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=15327;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.8211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55524197;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3468,938;ESP6500_AA_AGE=358.6+/-314.5;ESP6500_AA_GTC=1368,732,103;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=64;ESP6500_EA_AC=7168,1432;ESP6500_EA_AGE=275.2+/-291.6;ESP6500_EA_GTC=2996,1176,128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174936.3:coding-synonymous;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55058524;ESP6500_GTC=4364,1908,231;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.1380A>G;ESP6500_HGVS_PROTEIN_VAR=NM_174936.3:p.(V460);ESP6500_MAF=16.6512,21.2892,18.2224;ESP6500_TAC=10636,2370;CLINVAR_ALLELEID=196755;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55058524A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Iberoamerican_FH_Network:PCSK9_084|Illumina_Clinical_Services_Laboratory,Illumina:1532;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=540796	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1667,141,0
chr1	55058564	rs562556;201124	G	A	1233.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=0.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs562556;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|9/12|c.1420G>A|p.Val474Ile|1782/3710|1420/2079|474/692||,A|non_coding_transcript_exon_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|7/10|n.1027G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4352;p3_1000G_AF=0.86901;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=15343;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.8211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55524237;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9049;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3468,938;ESP6500_AA_AGE=733.5+/-410.5;ESP6500_AA_GTC=1368,732,103;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=44;ESP6500_EA_AC=7168,1432;ESP6500_EA_AGE=750.1+/-407.4;ESP6500_EA_GTC=2996,1176,128;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_174936.3:missense;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55058564;ESP6500_GS=29;ESP6500_GTC=4364,1908,231;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.1420G>A;ESP6500_HGVS_PROTEIN_VAR=NM_174936.3:p.(V474I);ESP6500_MAF=16.6512,21.2892,18.2224;ESP6500_PH=benign:0.013;ESP6500_TAC=10636,2370;CLINVAR_ALLELEID=196757;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55058564G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1542|Laboratory_of_Genetics_and_Molecular_Cardiology,University_of_São_Paulo:PCSK9_088|UniProtKB_(protein):Q8NBP7#VAR_021339;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=562556	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1262,122,0
chr1	55058666	rs772583304;492236	CGTGTGTGTGTGTGTGT	C	1062.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.74;SOR=1.863;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|9/11|c.1503+56_1503+71delGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|7/9|n.1110+56_1110+71delGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=483218;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLINVAR_CLNDN=Familial_hypercholesterolemia;CLINVAR_CLNHGVS=NC_000001.11:g.55058703_55058718del;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1	GT:AD:DP:GQ:PL	1/0:0,9:9:99:1100,509,421
chr1	55058666	.	CGTGTGTGTGTGTGTGT	CGT	1062.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.74;SOR=1.863;DEL;HET;VARTYPE=DEL;ANN=CGT|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|9/11|c.1503+58_1503+71delGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,CGT|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|7/9|n.1110+58_1110+71delGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,16:16:99:1100,319,239
chr1	55058714	rs563641;36667	T	C	1328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.751;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs563641;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|9/11|c.1503+67T>C||||||,C|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|7/9|n.1110+67T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=4350;p3_1000G_AF=0.86861;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=11133;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.8201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55524387;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=SNP;CLINVAR_ALLELEID=45328;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLINVAR_CLNDN=Familial_hypercholesterolemia;CLINVAR_CLNHGVS=NC_000001.11:g.55058714T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=563641	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1357,99,0
chr1	55059726	rs45439391;265947	C	T	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.051;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.227;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45439391;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|10/11|c.1681+63C>T||||||,T|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|8/9|n.1288+63C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=269;p3_1000G_AF=0.0537141;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=5761;p3_1000G_EAS_AF=0.0476;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55525399;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.0537;CLINVAR_ALLELEID=260623;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLINVAR_CLNDN=Familial_hypercholesterolemia;CLINVAR_CLNHGVS=NC_000001.11:g.55059726C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=45439391	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,21:41:99:0|1:55059726_C_T:522,0,777
chr1	55059727	rs483462;265948	G	A	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.774;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.032;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs483462;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|10/11|c.1681+64G>A||||||,A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|8/9|n.1288+64G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3377;p3_1000G_AF=0.674321;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=6021;p3_1000G_EAS_AF=0.873;p3_1000G_EUR_AF=0.7087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55525400;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;CLINVAR_ALLELEID=260624;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000;CLINVAR_CLNDN=Familial_hypercholesterolemia;CLINVAR_CLNHGVS=NC_000001.11:g.55059727G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=483462	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,20:40:99:1|0:55059726_C_T:536,0,801
chr1	55061650	rs630431	G	A	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.439;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.22;ReadPosRankSum=-0.703;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs630431;dbSNPBuildID=83;ANN=A|downstream_gene_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding||c.*7395C>T|||||4709|,A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|11/11|c.1863+94G>A||||||,A|intron_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|9/9|n.1470+94G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3378;p3_1000G_AF=0.674521;p3_1000G_AFR_AF=0.3699;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=18693;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.7068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55527323;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:86:86,0,155
chr1	55063514	rs505151;36670	G	A	2031.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs505151;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|12/12|c.2009G>A|p.Gly670Glu|2371/3710|2009/2079|670/692||,A|downstream_gene_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding||c.*5531C>T|||||2845|,A|non_coding_transcript_exon_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|10/10|n.1616G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4502;p3_1000G_AF=0.898962;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=16107;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.9652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55529187;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9744;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3272,1134;ESP6500_AA_AGE=377.5+/-322.5;ESP6500_AA_GTC=1228,816,159;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...255738&amp%3Brs...505151;ESP6500_CDS_SIZES=NM_174936.3:2079;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=43;ESP6500_EA_AC=8296,304;ESP6500_EA_AGE=105.6+/-166.5;ESP6500_EA_GTC=4000,296,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_174936.3:missense;ESP6500_GL=PCSK9;ESP6500_GRCh38_POSITION=1:55063514;ESP6500_GS=98;ESP6500_GTC=5228,1112,163;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_174936.3:c.2009G>A;ESP6500_HGVS_PROTEIN_VAR=NM_174936.3:p.(G670E);ESP6500_MAF=3.5349,25.7376,11.0564;ESP6500_PH=benign:0.0;ESP6500_TAC=11568,1438;CLINVAR_ALLELEID=45331;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:C1863551,OMIM:603776|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.55063514G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Iberoamerican_FH_Network:PCSK9_117|Illumina_Clinical_Services_Laboratory,Illumina:1537|Laboratory_of_Genetics_and_Molecular_Cardiology,University_of_São_Paulo:PCSK9_117|UniProtKB_(protein):Q8NBP7#VAR_017201;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=505151	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2060,192,0
chr1	55064155	rs662145;297734	C	T	731.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs662145;dbSNPBuildID=83;ANN=T|3_prime_UTR_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding|12/12|c.*571C>T|||||571|,T|downstream_gene_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding||c.*4890G>A|||||2204|,T|non_coding_transcript_exon_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene|10/10|n.2257C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3627;p3_1000G_AF=0.724241;p3_1000G_AFR_AF=0.3888;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=17375;p3_1000G_EAS_AF=0.9147;p3_1000G_EUR_AF=0.7674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55529828;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;CLINVAR_ALLELEID=280929;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia;CLINVAR_CLNHGVS=NC_000001.11:g.55064155C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1547;CLINVAR_GENEINFO=PCSK9:255738;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=662145	GT:AD:DP:GQ:PL	1/1:0,23:23:69:760,69,0
chr1	55064954	rs560784	T	G	4133.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=126;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=0.899;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs560784;dbSNPBuildID=83;ANN=G|downstream_gene_variant|MODIFIER|PCSK9|PCSK9|transcript|NM_174936.3|protein_coding||c.*1370T>G|||||101|,G|downstream_gene_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding||c.*4091A>C|||||1405|,G|downstream_gene_variant|MODIFIER|PCSK9|PCSK9|transcript|NR_110451.1|pseudogene||n.*101T>G|||||101|,G|intergenic_region|MODIFIER|PCSK9-USP24|PCSK9-USP24|intergenic_region|PCSK9-USP24|||n.55064954T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4921;p3_1000G_AF=0.982628;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20954;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55530627;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,126:126:99:4162,378,0
chr1	55071492	rs142269097	T	C	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.105;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.967;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142269097;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|67/67|c.7800+322A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17100;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55537165;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:182,0,226
chr1	55072712	rs654674	T	C	521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.78;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs654674;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|65/67|c.7602+74A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4551;p3_1000G_AF=0.908746;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=20273;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55538385;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:550,45,0
chr1	55072879	rs10493176	T	G	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.728;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10493176;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|64/67|c.7527-18A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=361;p3_1000G_AF=0.0720847;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=19364;p3_1000G_EAS_AF=0.0575;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55538552;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=46,3706;ESP6500_AA_GTC=0,46,1830;ESP6500_CDS_SIZES=NM_015306.2:7863;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=58;ESP6500_EA_AC=654,7562;ESP6500_EA_GTC=28,598,3482;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015306.2:intron;ESP6500_GL=USP24;ESP6500_GRCh38_POSITION=1:55072879;ESP6500_GTC=28,644,5312;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015306.2:c.7527-18A>C;ESP6500_MAF=7.9601,1.226,5.8489;ESP6500_TAC=700,11268	GT:AD:DP:GQ:PL	0/1:8,2:10:55:55,0,234
chr1	55075501	rs487230	A	G	505.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs487230;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|USP24|USP24|transcript|NM_015306.2|protein_coding|63/68|c.7403T>C|p.Val2468Ala|7656/10802|7403/7863|2468/2620||;p3_1000G_AA=A|||;p3_1000G_AC=3467;p3_1000G_AF=0.692292;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=20294;p3_1000G_EAS_AF=0.9187;p3_1000G_EUR_AF=0.7714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55541174;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1310,2362;ESP6500_AA_GTC=241,828,767;ESP6500_CDS_SIZES=NM_015306.2:7863;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=69;ESP6500_EA_AC=6284,1908;ESP6500_EA_GTC=2425,1434,237;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015306.2:missense;ESP6500_GL=USP24;ESP6500_GRCh38_POSITION=1:55075501;ESP6500_GS=64;ESP6500_GTC=2666,2262,1004;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015306.2:c.7403T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015306.2:p.(V2468A);ESP6500_MAF=23.291,35.6754,35.9912;ESP6500_PH=benign:0.0;ESP6500_TAC=7594,4270	GT:AD:DP:GQ:PL	1/1:0,17:17:51:534,51,0
chr1	55075665	rs60526291	AC	A	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60526291;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|62/67|c.7381-143delG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:55075665_AC_A:270,18,0
chr1	55075667	rs57413420	ACCACCACC	A	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57413420;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|62/67|c.7381-152_7381-145delGGTGGTGG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:55075665_AC_A:270,18,0
chr1	55081222	rs683880	T	C	521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs683880;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|59/67|c.7078+100A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3463;p3_1000G_AF=0.691494;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=19318;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55546895;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:550,39,0
chr1	55089612	rs548852	G	A	605.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs548852;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|55/67|c.6668+15C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3462;p3_1000G_AF=0.691294;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=19820;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55555285;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1249,2347;ESP6500_AA_GTC=225,799,774;ESP6500_CDS_SIZES=NM_015306.2:7863;ESP6500_CG=2.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=30;ESP6500_EA_AC=6186,1908;ESP6500_EA_GTC=2399,1388,260;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015306.2:intron;ESP6500_GL=USP24;ESP6500_GRCh38_POSITION=1:55089612;ESP6500_GTC=2624,2187,1034;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015306.2:c.6668+15C>T;ESP6500_MAF=23.573,34.733,36.3986;ESP6500_TAC=7435,4255	GT:AD:DP:GQ:PL	1/1:0,19:19:57:634,57,0
chr1	55092186	rs34673217	A	ATT	951.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34673217;dbSNPBuildID=126;ANN=ATT|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|53/67|c.6451-61_6451-60insAA||||||;p3_1000G_AC=4551;p3_1000G_AF=0.908746;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=17148;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55557859;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:55092186_A_ATT:989,66,0
chr1	55092191	rs3736992	C	T	960.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3736992;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|53/67|c.6451-65G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3463;p3_1000G_AF=0.691494;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=16764;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55557864;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:55092186_A_ATT:989,66,0
chr1	55092988	rs585203	A	G	239.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs585203;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|52/67|c.6355-72T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3467;p3_1000G_AF=0.692292;p3_1000G_AFR_AF=0.264;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=16223;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55558661;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:268,24,0
chr1	55100738	rs2307833;rs67540253	TTAGTC	T	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67540253,rs2307833;dbSNPBuildID=135,100;ANN=T|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|44/67|c.5271+96_5271+100delGACTA||||||;p3_1000G_AC=3851;p3_1000G_AF=0.76897;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=15325;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.8091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55566411;p3_1000G_GRCH37_REF=TTAGTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8722;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0
chr1	55101470	rs1165282	T	C	180.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1165282;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|43/67|c.5145+114A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4554;p3_1000G_AF=0.909345;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=19884;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55567143;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:209,15,0
chr1	55101737	rs615652	A	G	518.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs615652;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|42/67|c.5026-34T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4529;p3_1000G_AF=0.904353;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=18479;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.8419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55567410;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3358,558;ESP6500_AA_GTC=1441,476,41;ESP6500_CDS_SIZES=NM_015306.2:7863;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=36;ESP6500_EA_AC=7092,1234;ESP6500_EA_GTC=3034,1024,105;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015306.2:intron;ESP6500_GL=USP24;ESP6500_GRCh38_POSITION=1:55101737;ESP6500_GTC=4475,1500,146;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015306.2:c.5026-34T>C;ESP6500_MAF=14.821,14.2492,14.6381;ESP6500_TAC=10450,1792	GT:AD:DP:GQ:PL	1/1:0,17:17:51:547,51,0
chr1	55107194	rs594226	G	A	945.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs594226;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|40/67|c.4762+45C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3465;p3_1000G_AF=0.691893;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=20292;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.7704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55572867;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1411,2433;ESP6500_AA_GTC=274,863,785;ESP6500_CDS_SIZES=NM_015306.2:7863;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=67;ESP6500_EA_AC=6320,1910;ESP6500_EA_GTC=2438,1444,233;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015306.2:intron;ESP6500_GL=USP24;ESP6500_GRCh38_POSITION=1:55107194;ESP6500_GTC=2712,2307,1018;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015306.2:c.4762+45C>T;ESP6500_MAF=23.2078,36.7066,35.9699;ESP6500_TAC=7731,4343	GT:AD:DP:GQ:PL	1/1:0,31:31:93:974,93,0
chr1	55138509	rs545955653	C	A	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.117;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.852;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|26/67|c.2928+99G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18658;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55604182;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:141,0,207
chr1	55148363	rs34030121;rs57349841	CAT	C	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.02;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34030121,rs57349841;dbSNPBuildID=126,129;ANN=C|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|17/67|c.1968+98_1968+99delAT||||||;p3_1000G_AC=3896;p3_1000G_AF=0.777955;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=15022;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.8052;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55614036;p3_1000G_GRCH37_REF=CAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8712;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:270,18,0
chr1	55151844	rs1165228	T	G	918.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=4.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1165228;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|16/67|c.1860+2026A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4554;p3_1000G_AF=0.909345;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=15503;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55617517;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:947,78,0
chr1	55153749	rs1165230	G	A	96.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1165230;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|16/67|c.1860+121C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3848;p3_1000G_AF=0.768371;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=13535;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.8052;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55619422;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:124,9,0
chr1	55172402	rs1165222	G	A	1238.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1165222;dbSNPBuildID=87;ANN=A|missense_variant|MODERATE|USP24|USP24|transcript|NM_015306.2|protein_coding|4/68|c.677C>T|p.Thr226Ile|930/10802|677/7863|226/2620||;p3_1000G_AA=A|||;p3_1000G_AC=4543;p3_1000G_AF=0.907149;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=17411;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55638075;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3176,494;ESP6500_AA_GTC=1375,426,34;ESP6500_CDS_SIZES=NM_015306.2:7863;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=95;ESP6500_EA_AC=6904,1276;ESP6500_EA_GTC=2921,1062,107;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015306.2:missense;ESP6500_GL=USP24;ESP6500_GRCh38_POSITION=1:55172402;ESP6500_GS=89;ESP6500_GTC=4296,1488,141;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015306.2:c.677C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015306.2:p.(T226I);ESP6500_MAF=15.599,13.4605,14.9367;ESP6500_PH=benign:0.0;ESP6500_TAC=10080,1770	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1267,114,0
chr1	55178164	rs11350615;rs397747057	TA	T	996.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=2.621;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11350615;dbSNPBuildID=134,138;ANN=T|intron_variant|MODIFIER|USP24|USP24|transcript|NM_015306.2|protein_coding|1/67|c.325-33delT||||||;p3_1000G_AA=AAA|AAAA|AAA|insertion;p3_1000G_AC=4527;p3_1000G_AF=0.903954;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=18534;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55643837;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=INDEL;ESP6500_AA_AC=1720,298;ESP6500_AA_GTC=753,214,42;ESP6500_CDS_SIZES=NM_015306.2:7863;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=48;ESP6500_EA_AC=3507,611;ESP6500_EA_GTC=1532,443,84;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015306.2:intron;ESP6500_GL=USP24;ESP6500_GRCh38_POSITION=1:55178164;ESP6500_GTC=2285,657,126;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015306.2:c.325-33del1;ESP6500_MAF=14.8373,14.7671,14.8142;ESP6500_TAC=5227,909	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1034,90,0
chr1	56536941	rs11583161	G	A	739.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.069;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=5.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.52;SOR=0.298;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11583161;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PLPP3|PLPP3|transcript|NM_003713.4|protein_coding|2/5|c.297+14C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=724;p3_1000G_AF=0.144569;p3_1000G_AFR_AF=0.3374;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=20227;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57002613;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1201,3205;ESP6500_AA_AGE=420.2+/-338.9;ESP6500_AA_GTC=171,859,1173;ESP6500_CDS_SIZES=NM_003713.4:936;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=159;ESP6500_EA_AC=227,8373;ESP6500_EA_AGE=93.8+/-155.7;ESP6500_EA_GTC=11,205,4084;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003713.4:intron;ESP6500_GL=PPAP2B;ESP6500_GRCh38_POSITION=1:56536941;ESP6500_GTC=182,1064,5257;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003713.4:c.297+14C>T;ESP6500_MAF=2.6395,27.2583,10.9795;ESP6500_TAC=1428,11578	GT:AD:DP:GQ:PL	0/1:33,30:63:99:768,0,883
chr1	56536955	rs1136164	C	T	688.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.502;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.109;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.141;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1136164;dbSNPBuildID=137;ANN=T|splice_region_variant&synonymous_variant|LOW|PLPP3|PLPP3|transcript|NM_003713.4|protein_coding|2/6|c.297G>A|p.Ala99Ala|865/3308|297/936|99/311||;p3_1000G_AA=C|||;p3_1000G_AC=548;p3_1000G_AF=0.109425;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=20425;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57002627;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=803,3603;ESP6500_AA_AGE=322.3+/-297.6;ESP6500_AA_GTC=69,665,1469;ESP6500_CDS_SIZES=NM_003713.4:936;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=179;ESP6500_EA_AC=146,8454;ESP6500_EA_AGE=71.6+/-134.2;ESP6500_EA_GTC=2,142,4156;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003713.4:coding-synonymous-near-splice;ESP6500_GL=PPAP2B;ESP6500_GRCh38_POSITION=1:56536955;ESP6500_GTC=71,807,5625;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003713.4:c.297G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003713.4:p.(A99);ESP6500_MAF=1.6977,18.2251,7.2966;ESP6500_TAC=949,12057	GT:AD:DP:GQ:PL	0/1:37,30:67:99:717,0,918
chr1	56645496	rs61772962	C	G	558.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.367;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.283;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.314;SOR=0.995;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61772962;dbSNPBuildID=129;ANN=G|upstream_gene_variant|MODIFIER|LOC101929935|LOC101929935|transcript|NR_135111.1|pseudogene||n.-178G>C|||||178|,G|intron_variant|MODIFIER|PRKAA2|PRKAA2|transcript|NM_006252.3|protein_coding|1/8|c.94+15C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1542;p3_1000G_AF=0.307907;p3_1000G_AFR_AF=0.3918;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=6576;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.4652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57111169;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1733,2617;ESP6500_AA_GTC=368,997,810;ESP6500_CDS_SIZES=NM_006252.3:1659;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=26;ESP6500_EA_AC=4004,4490;ESP6500_EA_GTC=969,2066,1212;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006252.3:intron;ESP6500_GL=PRKAA2;ESP6500_GRCh38_POSITION=1:56645496;ESP6500_GTC=1337,3063,2022;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006252.3:c.94+15C>G;ESP6500_MAF=47.1392,39.8391,44.6668;ESP6500_TAC=5737,7107	GT:AD:DP:GQ:PL	0/1:20,21:41:99:587,0,575
chr1	56671506	rs13374924	T	G	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.075;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=1.43;SOR=0.409;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13374924;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|PRKAA2|PRKAA2|transcript|NM_006252.3|protein_coding|1/8|c.95-2875T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1585;p3_1000G_AF=0.316494;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=18884;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57137179;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:281,0,320
chr1	56692378	rs17848595	G	A	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.307;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=7.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=2.05;SOR=0.361;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17848595;dbSNPBuildID=123;ANN=A|structural_interaction_variant|HIGH|PRKAA2|PRKAA2|interaction|2H6D:A_117-A_267:NM_006252.3|protein_coding|4/9|c.351G>A||||||,A|structural_interaction_variant|HIGH|PRKAA2|PRKAA2|interaction|3AQV:A_117-A_267:NM_006252.3|protein_coding|4/9|c.351G>A||||||,A|structural_interaction_variant|HIGH|PRKAA2|PRKAA2|interaction|3AQV:A_117-A_270:NM_006252.3|protein_coding|4/9|c.351G>A||||||,A|synonymous_variant|LOW|PRKAA2|PRKAA2|transcript|NM_006252.3|protein_coding|4/9|c.351G>A|p.Arg117Arg|422/9352|351/1659|117/552||;p3_1000G_AA=G|||;p3_1000G_AC=870;p3_1000G_AF=0.173722;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=17103;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0.0437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57158051;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=801,3605;ESP6500_AA_AGE=321.5+/-297.2;ESP6500_AA_GTC=76,649,1478;ESP6500_CDS_SIZES=NM_006252.3:1659;ESP6500_CG=-0.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=169;ESP6500_EA_AC=423,8177;ESP6500_EA_AGE=131.5+/-189.3;ESP6500_EA_GTC=12,399,3889;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006252.3:coding-synonymous;ESP6500_GL=PRKAA2;ESP6500_GRCh38_POSITION=1:56692378;ESP6500_GTC=88,1048,5367;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006252.3:c.351G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006252.3:p.(R117);ESP6500_MAF=4.9186,18.1798,9.411;ESP6500_TAC=1224,11782	GT:AD:DP:GQ:PL	0/1:22,15:37:99:354,0,612
chr1	56692477	rs17848596	C	T	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.263;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=-1.8;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17848596;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|PRKAA2|PRKAA2|transcript|NM_006252.3|protein_coding|4/9|c.450C>T|p.His150His|521/9352|450/1659|150/552||;p3_1000G_AA=C|||;p3_1000G_AC=466;p3_1000G_AF=0.0930511;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=17145;p3_1000G_EAS_AF=0.1062;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57158150;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=462,3944;ESP6500_AA_AGE=220.4+/-237.8;ESP6500_AA_GTC=33,396,1774;ESP6500_CDS_SIZES=NM_006252.3:1659;ESP6500_CG=-3.7;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=161;ESP6500_EA_AC=146,8454;ESP6500_EA_AGE=71.6+/-134.2;ESP6500_EA_GTC=1,144,4155;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006252.3:coding-synonymous;ESP6500_GL=PRKAA2;ESP6500_GRCh38_POSITION=1:56692477;ESP6500_GTC=34,540,5929;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006252.3:c.450C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006252.3:p.(H150);ESP6500_MAF=1.6977,10.4857,4.6748;ESP6500_TAC=608,12398	GT:AD:DP:GQ:PL	0/1:31,16:47:99:326,0,869
chr1	56707431	rs140162362	A	G	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.907;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.343;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140162362;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|PRKAA2|PRKAA2|transcript|NM_006252.3|protein_coding|8/8|c.1421-44A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19984;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57173104;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_006252.3:1659;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=55;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006252.3:intron;ESP6500_GL=PRKAA2;ESP6500_GRCh38_POSITION=1:56707431;ESP6500_GTC=0,1,6502;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006252.3:c.1421-44A>G;ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:8,11:19:99:322,0,203
chr1	56720145	rs857141	A	G	1533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs857141;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|PRKAA2|PRKAA2|transcript|NM_006252.3|protein_coding||c.*12432A>G|||||4810|,G|intron_variant|MODIFIER|C1orf168|C1orf168|transcript|NM_001004303.4|protein_coding|18/19|c.2131+28T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=4170;p3_1000G_AF=0.832668;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=17620;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.669;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57185818;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8344;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=4123,277;ESP6500_AA_AGE=138.4+/-174.2;ESP6500_AA_GTC=1935,253,12;ESP6500_CDS_SIZES=NM_001004303.4:2187;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=41;ESP6500_EA_AC=5946,2628;ESP6500_EA_AGE=401.2+/-347.1;ESP6500_EA_GTC=2091,1764,432;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004303.4:intron;ESP6500_GL=C1orf168;ESP6500_GRCh38_POSITION=1:56720145;ESP6500_GTC=4026,2017,444;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004303.4:c.2131+28T>C;ESP6500_MAF=30.6508,6.2955,22.3909;ESP6500_TAC=10069,2905	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1562,144,0
chr1	56726680	rs71772656	TAAA	T	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.87;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71772656;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|C1orf168|C1orf168|transcript|NM_001004303.4|protein_coding|15/19|c.1794-100_1794-98delTTT||||||;p3_1000G_AC=760;p3_1000G_AF=0.151757;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=18250;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.1551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57192353;p3_1000G_GRCH37_REF=TAAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:450,30,0
chr1	56753958	rs11404547;rs869133889;~rs11404547	G	GA	632.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=1.931;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11404547;dbSNPBuildID=135,147;ANN=GA|intron_variant|MODIFIER|C1orf168|C1orf168|transcript|NM_001004303.4|protein_coding|7/19|c.1131-24dupT||||||;p3_1000G_AA=?|AAAAAAA|AAAAAAAA|unsure;p3_1000G_AC=4206;p3_1000G_AF=0.839856;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19272;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57219631;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=INDEL;ESP6500_AA_AC=3932,324;ESP6500_AA_GTC=1818,296,14;ESP6500_CDS_SIZES=NM_001004303.4:2187;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=94;ESP6500_EA_AC=5487,2767;ESP6500_EA_GTC=1826,1835,466;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004303.4:intron;ESP6500_GL=C1orf168;ESP6500_GRCh38_POSITION=1:56753958;ESP6500_GTC=3644,2131,480;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001004303.4:c.1131-24_1131-23insT;ESP6500_MAF=33.5231,7.6128,24.7082;ESP6500_TAC=9419,3091	GT:AD:DP:GQ:PL	1/1:0,22:22:66:670,66,0
chr1	56755880	rs1774808	G	T	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.64;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1774808;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|C1orf168|C1orf168|transcript|NM_001004303.4|protein_coding|7/19|c.1130+16C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4137;p3_1000G_AF=0.826078;p3_1000G_AFR_AF=0.9486;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=21193;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.6521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57221553;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=235,4169;ESP6500_AA_GTC=20,195,1987;ESP6500_CDS_SIZES=NM_001004303.4:2187;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=83;ESP6500_EA_AC=292,8308;ESP6500_EA_GTC=34,224,4042;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004303.4:intron;ESP6500_GL=C1orf168;ESP6500_GRCh38_POSITION=1:56755880;ESP6500_GTC=54,419,6029;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001004303.4:c.1130+16C>A;ESP6500_MAF=3.3953,5.3361,4.0526;ESP6500_TAC=527,12477	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:56755880_G_T:1035,69,0
chr1	56755881	rs1738401	A	G	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1738401;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|C1orf168|C1orf168|transcript|NM_001004303.4|protein_coding|7/19|c.1130+15T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4138;p3_1000G_AF=0.826278;p3_1000G_AFR_AF=0.9486;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=21212;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.6521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57221554;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=192,4212;ESP6500_AA_GTC=13,166,2023;ESP6500_CDS_SIZES=NM_001004303.4:2187;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=84;ESP6500_EA_AC=216,8384;ESP6500_EA_GTC=24,168,4108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004303.4:intron;ESP6500_GL=C1orf168;ESP6500_GRCh38_POSITION=1:56755881;ESP6500_GTC=37,334,6131;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004303.4:c.1130+15T>C;ESP6500_MAF=2.5116,4.3597,3.1375;ESP6500_TAC=408,12596	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:56755880_G_T:1035,69,0
chr1	56758787	rs857103	G	C	439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.49;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs857103;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|C1orf168|C1orf168|transcript|NM_001004303.4|protein_coding|5/19|c.1064-37C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4143;p3_1000G_AF=0.827276;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=17762;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.6252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57224460;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4058,340;ESP6500_AA_GTC=1875,308,16;ESP6500_CDS_SIZES=NM_001004303.4:2187;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=30;ESP6500_EA_AC=5387,3189;ESP6500_EA_GTC=1716,1955,617;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004303.4:intron;ESP6500_GL=C1orf168;ESP6500_GRCh38_POSITION=1:56758787;ESP6500_GTC=3591,2263,633;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001004303.4:c.1064-37C>G;ESP6500_MAF=37.1852,7.7308,27.2006;ESP6500_TAC=9445,3529	GT:AD:DP:GQ:PL	1/1:0,16:16:48:468,48,0
chr1	56792144	rs2298130	T	C	680.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.93;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.375;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.884;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298130;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|C1orf168|C1orf168|transcript|NM_001004303.4|protein_coding|2/20|c.669A>G|p.Lys223Lys|1075/3460|669/2187|223/728||;p3_1000G_AA=C|||;p3_1000G_AC=1259;p3_1000G_AF=0.251398;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=16319;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.1431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57257817;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1414,2990;ESP6500_AA_AGE=651.2+/-399.2;ESP6500_AA_GTC=224,966,1012;ESP6500_CDS_SIZES=NM_001004303.4:2187;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=74;ESP6500_EA_AC=1191,7409;ESP6500_EA_AGE=754.7+/-407.5;ESP6500_EA_GTC=105,981,3214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004303.4:coding-synonymous;ESP6500_GL=C1orf168;ESP6500_GRCh38_POSITION=1:56792144;ESP6500_GTC=329,1947,4226;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004303.4:c.669A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001004303.4:p.(K223);ESP6500_MAF=13.8488,32.1072,20.0323;ESP6500_TAC=2605,10399	GT:AD:DP:GQ:PL	0/1:29,24:53:99:709,0,780
chr1	56875054	rs652785;17039	C	A	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.269;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=1.08;SOR=0.718;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs652785;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|C8A|C8A|transcript|NM_000562.2|protein_coding|3/11|c.277C>A|p.Gln93Lys|409/2392|277/1755|93/584||;p3_1000G_AA=C|||;p3_1000G_AC=1721;p3_1000G_AF=0.34365;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=20376;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.3439;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57340727;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=935,3471;ESP6500_AA_AGE=357.1+/-313.8;ESP6500_AA_GTC=91,753,1359;ESP6500_CDS_SIZES=NM_000562.2:1755;ESP6500_CG=3.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=85;ESP6500_EA_AC=3239,5361;ESP6500_EA_AGE=487.5+/-372.1;ESP6500_EA_GTC=641,1957,1702;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000562.2:missense;ESP6500_GL=C8A;ESP6500_GRCh38_POSITION=1:56875054;ESP6500_GS=53;ESP6500_GTC=732,2710,3061;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000562.2:c.277C>A;ESP6500_HGVS_PROTEIN_VAR=NM_000562.2:p.(Q93K);ESP6500_MAF=37.6628,21.2211,32.0929;ESP6500_PH=benign:0.048;ESP6500_TAC=4174,8832;CLINVAR_AF_ESP=0.3209;CLINVAR_AF_EXAC=0.36838;CLINVAR_AF_TGP=0.3437;CLINVAR_ALLELEID=32078;CLINVAR_CLNDISDB=.|MedGen:CN169374;CLINVAR_CLNDN=COMPLEMENT_COMPONENT_8,_ALPHA_SUBUNIT,_A/B_POLYMORPHISM|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.56875054C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:120950.0001|UniProtKB_(protein):P07357#VAR_011889;CLINVAR_GENEINFO=C8A:731;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=652785	GT:AD:DP:GQ:PL	0/1:32,20:52:99:499,0,1004
chr1	56876220	rs149171325	G	T	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.926;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.005;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=2.23;SOR=0.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149171325;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|C8A|C8A|transcript|NM_000562.2|protein_coding|4/10|c.464+11G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21342;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57341893;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,25:61:99:567,0,1072
chr1	56883734	rs6694643	A	T	868.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.76;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=6.063;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.718;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6694643;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|C8A|C8A|transcript|NM_000562.2|protein_coding|6/10|c.855+53A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1057;p3_1000G_AF=0.211062;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=19508;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.1481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57349407;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:43,37:80:99:897,0,996
chr1	56883791	rs6697228	T	C	479.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.845;SOR=0.797;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6697228;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|C8A|C8A|transcript|NM_000562.2|protein_coding|6/10|c.855+110T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1057;p3_1000G_AF=0.211062;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=18954;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.1481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57349464;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,22:52:99:508,0,740
chr1	56929347	rs2795	A	G	901.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.6;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=13.418;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.423;SOR=2.211;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2795;dbSNPBuildID=36;ANN=G|3_prime_UTR_variant|MODIFIER|C8B|C8B|transcript|NM_000066.3|protein_coding|12/12|c.*57T>C|||||57|,G|3_prime_UTR_variant|MODIFIER|C8B|C8B|transcript|NM_001278543.1|protein_coding|13/13|c.*57T>C|||||57|,G|3_prime_UTR_variant|MODIFIER|C8B|C8B|transcript|NM_001278544.1|protein_coding|13/13|c.*57T>C|||||57|;p3_1000G_AA=C|||;p3_1000G_AC=1839;p3_1000G_AF=0.367212;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=19938;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.2913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57395020;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:61,36:97:99:930,0,1530
chr1	56929578	rs605648	T	C	4320.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.83;SOR=1.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs605648;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|C8B|C8B|transcript|NM_000066.3|protein_coding|11/11|c.1622-20A>G||||||,C|intron_variant|MODIFIER|C8B|C8B|transcript|NM_001278543.1|protein_coding|12/12|c.1466-20A>G||||||,C|intron_variant|MODIFIER|C8B|C8B|transcript|NM_001278544.1|protein_coding|12/12|c.1436-20A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4409;p3_1000G_AF=0.880391;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=20810;p3_1000G_EAS_AF=0.9306;p3_1000G_EUR_AF=0.8608;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57395251;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3436,970;ESP6500_AA_AGE=365.4+/-317.4;ESP6500_AA_GTC=1342,752,109;ESP6500_CDS_SIZES=NM_000066.2:1776;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=60;ESP6500_EA_AC=7355,1245;ESP6500_EA_AGE=250.5+/-277.4;ESP6500_EA_GTC=3155,1045,100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000066.2:intron;ESP6500_GL=C8B;ESP6500_GRCh38_POSITION=1:56929578;ESP6500_GTC=4497,1797,209;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000066.2:c.1622-20A>G;ESP6500_MAF=14.4767,22.0154,17.0306;ESP6500_TAC=10791,2215	GT:AD:DP:GQ:PL	1/1:0,122:122:99:4349,367,0
chr1	56929748	rs653804	C	G	565.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.95;ReadPosRankSum=1.43;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs653804;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|C8B|C8B|transcript|NM_000066.3|protein_coding|11/11|c.1622-190G>C||||||,G|intron_variant|MODIFIER|C8B|C8B|transcript|NM_001278543.1|protein_coding|12/12|c.1466-190G>C||||||,G|intron_variant|MODIFIER|C8B|C8B|transcript|NM_001278544.1|protein_coding|12/12|c.1436-190G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1842;p3_1000G_AF=0.367812;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=18430;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.2913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57395421;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,16:27:99:594,0,351
chr1	56929761	rs2281598	C	G	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.488;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-1.533;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2281598;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|C8B|C8B|transcript|NM_000066.3|protein_coding|11/11|c.1622-203G>C||||||,G|intron_variant|MODIFIER|C8B|C8B|transcript|NM_001278543.1|protein_coding|12/12|c.1466-203G>C||||||,G|intron_variant|MODIFIER|C8B|C8B|transcript|NM_001278544.1|protein_coding|12/12|c.1436-203G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=885;p3_1000G_AF=0.176717;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=18105;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57395434;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:226,0,503
chr1	56951960	rs138791380	G	GGGATGTGTCCAAGGTCACACA	546.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=3.442;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs138791380;dbSNPBuildID=134;ANN=GGGATGTGTCCAAGGTCACACA|intron_variant|MODIFIER|C8B|C8B|transcript|NM_000066.3|protein_coding|5/11|c.666+87_666+88insTGTGTGACCTTGGACACATCC||||||,GGGATGTGTCCAAGGTCACACA|intron_variant|MODIFIER|C8B|C8B|transcript|NM_001278543.1|protein_coding|6/12|c.510+87_510+88insTGTGTGACCTTGGACACATCC||||||,GGGATGTGTCCAAGGTCACACA|intron_variant|MODIFIER|C8B|C8B|transcript|NM_001278544.1|protein_coding|6/12|c.480+87_480+88insTGTGTGACCTTGGACACATCC||||||;p3_1000G_AC=3231;p3_1000G_AF=0.645168;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=20236;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57417633;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:39:584,39,0
chr1	56956811	rs1013579	C	T	1390.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.61;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1013579;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|C8B|C8B|transcript|NM_000066.3|protein_coding|3/12|c.349G>A|p.Gly117Arg|541/2162|349/1776|117/591||,T|missense_variant|MODERATE|C8B|C8B|transcript|NM_001278543.1|protein_coding|4/13|c.193G>A|p.Gly65Arg|763/2384|193/1620|65/539||,T|missense_variant|MODERATE|C8B|C8B|transcript|NM_001278544.1|protein_coding|4/13|c.163G>A|p.Gly55Arg|670/2291|163/1590|55/529||;p3_1000G_AA=T|||;p3_1000G_AC=4940;p3_1000G_AF=0.986422;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=20275;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57422484;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4373,33;ESP6500_AA_AGE=38.4+/-70.7;ESP6500_AA_GTC=2170,33,0;ESP6500_CDS_SIZES=NM_000066.2:1776;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=331;ESP6500_EA_AC=8318,282;ESP6500_EA_AGE=106.6+/-167.4;ESP6500_EA_GTC=4025,268,7;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000066.2:missense;ESP6500_GL=C8B;ESP6500_GRCh38_POSITION=1:56956811;ESP6500_GS=125;ESP6500_GTC=6195,301,7;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000066.2:c.349G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000066.2:p.(G117R);ESP6500_MAF=3.2791,0.749,2.422;ESP6500_PH=benign:0.0;ESP6500_TAC=12691,315	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1419,132,0
chr1	57069525	rs3738556	C	A	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.566;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738556;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|DAB1|DAB1|transcript|NM_021080.3|protein_coding|9/16|c.598-100G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1489;p3_1000G_AF=0.297324;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=21316;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.17;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57535198;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:131,0,155
chr1	57136452	rs191383208	G	C	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.164;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.131;SOR=0.155;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs191383208;dbSNPBuildID=135;ANN=C|intron_variant|MODIFIER|DAB1|DAB1|transcript|NM_021080.3|protein_coding|6/16|c.306+91C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=18;p3_1000G_AF=0.00359425;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20134;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57602125;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,8:20:99:235,0,382
chr1	57136710	rs563921	T	C	500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs563921;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|DAB1|DAB1|transcript|NM_021080.3|protein_coding|5/16|c.208-69A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1969;p3_1000G_AF=0.393171;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=19081;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=57602383;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:529,39,0
chr1	58530755	rs2271005	C	T	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.278;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.086;SOR=0.922;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271005;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|OMA1|OMA1|transcript|NM_145243.4|protein_coding|5/8|c.1012-26G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=736;p3_1000G_AF=0.146965;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=17940;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.1193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58996427;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=788,3618;ESP6500_AA_AGE=719.6+/-409.0;ESP6500_AA_GTC=70,648,1485;ESP6500_CDS_SIZES=NM_145243.3:1575;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=33;ESP6500_EA_AC=1032,7566;ESP6500_EA_AGE=756.6+/-407.5;ESP6500_EA_GTC=62,908,3329;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145243.3:intron;ESP6500_GL=OMA1;ESP6500_GRCh38_POSITION=1:58530755;ESP6500_GTC=132,1556,4814;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145243.3:c.1012-26G>A;ESP6500_MAF=12.0028,17.8847,13.9957;ESP6500_TAC=1820,11184	GT:AD:DP:GQ:PL	0/1:19,13:32:99:307,0,533
chr1	58534384	rs17096876	C	T	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17096876;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|OMA1|OMA1|transcript|NM_145243.4|protein_coding|3/8|c.730-53G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=224;p3_1000G_AF=0.0447284;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=15582;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59000056;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:104,0,114
chr1	58534419	rs17117681	T	C	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.385;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17117681;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|OMA1|OMA1|transcript|NM_145243.4|protein_coding|3/8|c.730-88A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=224;p3_1000G_AF=0.0447284;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=14665;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59000091;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:99:104,0,105
chr1	58536549	rs7537470	T	C	855.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.306;SOR=0.35;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7537470;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|OMA1|OMA1|transcript|NM_145243.4|protein_coding|3/9|c.693A>G|p.Glu231Glu|806/1934|693/1575|231/524||;p3_1000G_AA=c|||;p3_1000G_AC=736;p3_1000G_AF=0.146965;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=17939;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.1193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59002221;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=803,3601;ESP6500_AA_AGE=746.7+/-411.8;ESP6500_AA_GTC=71,661,1470;ESP6500_CDS_SIZES=NM_145243.3:1575;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=1045,7555;ESP6500_EA_AGE=769.4+/-407.6;ESP6500_EA_GTC=64,917,3319;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145243.3:coding-synonymous;ESP6500_GL=OMA1;ESP6500_GRCh38_POSITION=1:58536549;ESP6500_GTC=135,1578,4789;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145243.3:c.693A>G;ESP6500_HGVS_PROTEIN_VAR=NM_145243.3:p.(E231);ESP6500_MAF=12.1512,18.2334,14.211;ESP6500_TAC=1848,11156	GT:AD:DP:GQ:PL	0/1:26,30:56:99:884,0,728
chr1	58536610	rs17117699	A	C	626.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=1.26;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17117699;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|OMA1|OMA1|transcript|NM_145243.4|protein_coding|3/9|c.632T>G|p.Phe211Cys|745/1934|632/1575|211/524||;p3_1000G_AA=a|||;p3_1000G_AC=224;p3_1000G_AF=0.0447284;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=17561;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.0089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59002282;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=43,4363;ESP6500_AA_AGE=47.5+/-82.1;ESP6500_AA_GTC=0,43,2160;ESP6500_CDS_SIZES=NM_145243.3:1575;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=79;ESP6500_EA_AC=104,8496;ESP6500_EA_AGE=56.0+/-117.1;ESP6500_EA_GTC=0,104,4196;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145243.3:missense;ESP6500_GL=OMA1;ESP6500_GRCh38_POSITION=1:58536610;ESP6500_GS=205;ESP6500_GTC=0,147,6356;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_145243.3:c.632T>G;ESP6500_HGVS_PROTEIN_VAR=NM_145243.3:p.(F211C);ESP6500_MAF=1.2093,0.9759,1.1302;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=147,12859	GT:AD:DP:GQ:PL	0/1:23,22:45:99:655,0,626
chr1	58538945	rs17117720	G	A	410.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.779;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=0.556;SOR=0.498;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17117720;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|OMA1|OMA1|transcript|NM_145243.4|protein_coding|2/9|c.350C>T|p.Pro117Leu|463/1934|350/1575|117/524||;p3_1000G_AA=G|||;p3_1000G_AC=212;p3_1000G_AF=0.0423323;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=15563;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.0089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59004617;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=13,4393;ESP6500_AA_AGE=20.2+/-43.8;ESP6500_AA_GTC=0,13,2190;ESP6500_CDS_SIZES=NM_145243.3:1575;ESP6500_CG=4.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=144;ESP6500_EA_AC=103,8497;ESP6500_EA_AGE=56.0+/-117.1;ESP6500_EA_GTC=0,103,4197;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145243.3:missense;ESP6500_GL=OMA1;ESP6500_GRCh38_POSITION=1:58538945;ESP6500_GS=98;ESP6500_GTC=0,116,6387;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145243.3:c.350C>T;ESP6500_HGVS_PROTEIN_VAR=NM_145243.3:p.(P117L);ESP6500_MAF=1.1977,0.2951,0.8919;ESP6500_PH=possibly-damaging:0.952;ESP6500_TAC=116,12890	GT:AD:DP:GQ:PL	0/1:10,15:25:99:439,0,274
chr1	58539307	rs902925	C	T	476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.27;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs902925;dbSNPBuildID=86;ANN=T|5_prime_UTR_variant|MODIFIER|OMA1|OMA1|transcript|NM_145243.4|protein_coding|2/9|c.-13G>A|||||13|;p3_1000G_AA=T|||;p3_1000G_AC=4885;p3_1000G_AF=0.975439;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=16864;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59004979;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4056,318;ESP6500_AA_GTC=1877,302,8;ESP6500_CDS_SIZES=NM_145243.3:1575;ESP6500_CG=3.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=27;ESP6500_EA_AC=8585,5;ESP6500_EA_GTC=4290,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145243.3:utr-5;ESP6500_GL=OMA1;ESP6500_GRCh38_POSITION=1:58539307;ESP6500_GTC=6167,307,8;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145243.3:c.-13G>A;ESP6500_MAF=0.0582,7.2702,2.4915;ESP6500_TAC=12641,323	GT:AD:DP:GQ:PL	1/1:0,13:13:39:505,39,0
chr1	58576509	rs14008;297768	G	T	2728.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=220;ExcessHet=3.0103;FS=1.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.605;SOR=0.775;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs14008;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|TACSTD2|TACSTD2|transcript|NM_002353.2|protein_coding|1/1|c.648C>A|p.Asp216Glu|986/2072|648/972|216/323||;p3_1000G_AA=G|||;p3_1000G_AC=787;p3_1000G_AF=0.157149;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=14915;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59042181;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1358,3034;ESP6500_AA_GTC=216,926,1054;ESP6500_CDS_SIZES=NM_002353.2:972;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=16;ESP6500_EA_AC=579,8011;ESP6500_EA_GTC=27,525,3743;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002353.2:missense;ESP6500_GL=TACSTD2;ESP6500_GRCh38_POSITION=1:58576509;ESP6500_GS=45;ESP6500_GTC=243,1451,4797;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002353.2:c.648C>A;ESP6500_HGVS_PROTEIN_VAR=NM_002353.2:p.(D216E);ESP6500_MAF=6.7404,30.9199,14.9207;ESP6500_PH=benign:0.057;ESP6500_TAC=1937,11045;CLINVAR_AF_ESP=0.1492;CLINVAR_AF_EXAC=0.09760;CLINVAR_AF_TGP=0.1572;CLINVAR_ALLELEID=281507;CLINVAR_CLNDISDB=MedGen:CN239339;CLINVAR_CLNDN=Corneal_Dystrophy,_Dominant/Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.58576509G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1596|UniProtKB_(protein):P09758#VAR_016981;CLINVAR_GENEINFO=TACSTD2:4070;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=14008	GT:AD:DP:GQ:PL	0/1:120,100:220:99:2757,0,3237
chr1	58577210	rs232835;297774	T	G	162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.732;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=0.105;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs232835;dbSNPBuildID=79;ANN=G|5_prime_UTR_variant|MODIFIER|TACSTD2|TACSTD2|transcript|NM_002353.2|protein_coding|1/1|c.-54A>C|||||54|;p3_1000G_AA=G|||;p3_1000G_AC=786;p3_1000G_AF=0.156949;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=9507;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59042882;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1570;CLINVAR_ALLELEID=281509;CLINVAR_CLNDISDB=MedGen:CN239339;CLINVAR_CLNDN=Corneal_Dystrophy,_Dominant/Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.58577210T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1619;CLINVAR_GENEINFO=TACSTD2:4070;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=232835	GT:AD:DP:GQ:PL	0/1:3,6:9:88:191,0,88
chr1	58661004	rs232779	A	C	97.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs232779;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|19/19|c.2328+166T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4581;p3_1000G_AF=0.914736;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=15317;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.8748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59126676;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:125,9,0
chr1	58661352	rs4912364	T	G	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.13;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.7;ReadPosRankSum=-0.625;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4912364;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|18/19|c.2270+54A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1705;p3_1000G_AF=0.340455;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=18013;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.3857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59127024;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,15:21:99:505,0,135
chr1	58661414	rs7523134	G	A	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.485;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=-0.677;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7523134;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|18/20|c.2262C>T|p.Leu754Leu|2285/7768|2262/2487|754/828||;p3_1000G_AA=G|||;p3_1000G_AC=1241;p3_1000G_AF=0.247804;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=17586;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.2843;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59127086;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=636,3036;ESP6500_AA_GTC=55,526,1255;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=-10.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=168;ESP6500_EA_AC=2406,5750;ESP6500_EA_GTC=365,1676,2037;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:coding-synonymous;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58661414;ESP6500_GTC=420,2202,3292;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.2262C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001085487.2:p.(L754);ESP6500_MAF=29.4998,17.3203,25.7186;ESP6500_TAC=3042,8786	GT:AD:DP:GQ:PL	0/1:29,11:40:99:198,0,828
chr1	58661521	rs7525365	C	T	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.027;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.421;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=0.288;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7525365;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|17/19|c.2165-10G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1202;p3_1000G_AF=0.240016;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=18367;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.2843;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59127193;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=537,3137;ESP6500_AA_GTC=36,465,1336;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=110;ESP6500_EA_AC=2408,5750;ESP6500_EA_GTC=364,1680,2035;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:intron;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58661521;ESP6500_GTC=400,2145,3371;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.2165-10G>A;ESP6500_MAF=29.517,14.6162,24.8901;ESP6500_TAC=2945,8887	GT:AD:DP:GQ:PL	0/1:23,12:35:99:240,0,631
chr1	58665639	rs232790	G	T	685.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs232790;dbSNPBuildID=79;ANN=T|splice_region_variant&intron_variant|LOW|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|16/19|c.2032-8C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4483;p3_1000G_AF=0.895168;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=17746;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.8718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59131311;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3050,560;ESP6500_AA_GTC=1287,476,42;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=-9.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=56;ESP6500_EA_AC=7101,1027;ESP6500_EA_GTC=3095,911,58;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:intron;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58665639;ESP6500_GTC=4382,1387,100;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.2032-8C>A;ESP6500_MAF=12.6353,15.5125,13.5202;ESP6500_TAC=10151,1587	GT:AD:DP:GQ:PL	1/1:0,24:24:72:714,72,0
chr1	58668914	rs11207284	G	C	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.439;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.949;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=1.05;SOR=0.28;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11207284;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|13/19|c.1716+70C>G||||||;ESP6500_AA=G;ESP6500_AA_AC=373,1011;ESP6500_AA_GTC=40,293,359;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=98;ESP6500_EA_AC=1301,1881;ESP6500_EA_GTC=274,753,564;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:intron;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58668914;ESP6500_GTC=314,1046,923;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.1716+70C>G;ESP6500_MAF=40.8862,26.9509,36.6623;ESP6500_TAC=1674,2892	GT:AD:DP:GQ:PL	0/1:14,7:21:99:163,0,420
chr1	58668935	rs57822474	C	CAG	1031.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.69;SOR=1.802;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs57822474;dbSNPBuildID=129;ANN=CAG|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|13/19|c.1716+48_1716+49insCT||||||;p3_1000G_AC=4943;p3_1000G_AF=0.987021;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18171;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59134607;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,24:24:72:1069,72,0
chr1	58673551	rs2064370	C	G	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.035;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.917;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2064370;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|11/19|c.1572+22G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2915;p3_1000G_AF=0.582069;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=19098;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59139223;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1827,1905;ESP6500_AA_GTC=437,953,476;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=62;ESP6500_EA_AC=4732,3462;ESP6500_EA_GTC=1388,1956,753;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:intron;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58673551;ESP6500_GTC=1825,2909,1229;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.1572+22G>C;ESP6500_MAF=42.2504,48.955,45.0025;ESP6500_TAC=6559,5367	GT:AD:DP:GQ:PL	0/1:16,15:31:99:369,0,447
chr1	58675693	rs17118097	G	A	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.119;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.77;ReadPosRankSum=0.444;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17118097;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|9/19|c.1391-113C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1716;p3_1000G_AF=0.342652;p3_1000G_AFR_AF=0.2549;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=19422;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59141365;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:99:109,0,340
chr1	58677041	rs579110	T	C	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.34;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.96;ReadPosRankSum=0.22;SOR=0.903;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs579110;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|9/20|c.1275A>G|p.Pro425Pro|1298/7768|1275/2487|425/828||;p3_1000G_AA=C|||;p3_1000G_AC=3242;p3_1000G_AF=0.647364;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=15179;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.5875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59142713;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2476,1222;ESP6500_AA_GTC=812,852,185;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=160;ESP6500_EA_AC=4738,3446;ESP6500_EA_GTC=1394,1950,748;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:coding-synonymous;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58677041;ESP6500_GTC=2206,2802,933;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.1275A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001085487.2:p.(P425);ESP6500_MAF=42.1065,33.0449,39.2863;ESP6500_TAC=7214,4668	GT:AD:DP:GQ:PL	0/1:20,9:29:99:201,0,452
chr1	58681748	rs11207292	G	A	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.693;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.885;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-1.533;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11207292;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|8/19|c.1259+37C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2916;p3_1000G_AF=0.582268;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=17475;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.5875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59147420;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1721,1857;ESP6500_AA_GTC=410,901,478;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=19;ESP6500_EA_AC=4643,3447;ESP6500_EA_GTC=1378,1887,780;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:intron;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58681748;ESP6500_GTC=1788,2788,1258;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.1259+37C>T;ESP6500_MAF=42.6082,48.0995,45.4577;ESP6500_TAC=6364,5304	GT:AD:DP:GQ:PL	0/1:9,13:22:99:338,0,218
chr1	58682254	rs12139511	T	C	531.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.598;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.263;SOR=0.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12139511;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|8/20|c.790A>G|p.Thr264Ala|813/7768|790/2487|264/828||;p3_1000G_AA=C|||;p3_1000G_AC=3165;p3_1000G_AF=0.631989;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=18269;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.5875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59147926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2270,1390;ESP6500_AA_GTC=693,884,253;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=132;ESP6500_EA_AC=4735,3439;ESP6500_EA_GTC=1394,1947,746;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001085487.2:missense;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58682254;ESP6500_GS=58;ESP6500_GTC=2087,2831,999;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.790A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001085487.2:p.(T264A);ESP6500_MAF=42.0724,37.9781,40.8062;ESP6500_PH=benign:0.0;ESP6500_TAC=7005,4829	GT:AD:DP:GQ:PL	0/1:18,23:41:99:560,0,442
chr1	58685269	rs2206764	G	A	123.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2206764;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|6/19|c.400-18C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3650;p3_1000G_AF=0.728834;p3_1000G_AFR_AF=0.6831;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=12707;p3_1000G_EAS_AF=0.7897;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59150941;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:151,12,0
chr1	58690483	rs12076049	C	T	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0.674;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12076049;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|3/19|c.219-66G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2914;p3_1000G_AF=0.581869;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=15338;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59156155;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:70:71,0,70
chr1	58692960	rs12097333	T	C	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.02;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=0.628;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12097333;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|2/19|c.148-29A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2914;p3_1000G_AF=0.581869;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=19348;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59158632;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1716,1874;ESP6500_AA_GTC=399,918,478;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=87;ESP6500_EA_AC=4675,3459;ESP6500_EA_GTC=1378,1919,770;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:intron;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58692960;ESP6500_GTC=1777,2837,1248;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.148-29A>G;ESP6500_MAF=42.5252,47.7994,45.4879;ESP6500_TAC=6391,5333	GT:AD:DP:GQ:PL	0/1:11,14:25:99:434,0,283
chr1	58695052	rs397980294;rs531174084;rs66629118	TA	T	24.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=0.524;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs66629118;dbSNPBuildID=137,142,138;ANN=T|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|2/19|c.147+76delT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,3:5:62:0|1:58695052_TA_T:62,0,96
chr1	58695063	rs2473746;rs552728270	A	G	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-1.368;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374027102,rs2473746;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|2/19|c.147+66T>C||||||;p3_1000G_AC=1672;p3_1000G_AF=0.333866;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=15916;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59160735;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:91:1|0:58695052_TA_T:130,0,91
chr1	58695213	rs2064374	A	G	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.418;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=4.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=1.53;SOR=1.555;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2064374;dbSNPBuildID=94;ANN=G|splice_region_variant&intron_variant|LOW|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|1/19|c.69-6T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1844;p3_1000G_AF=0.368211;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=17180;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.4125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59160885;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1376,2242;ESP6500_AA_GTC=256,864,689;ESP6500_CDS_SIZES=NM_001085487.2:2487;ESP6500_CG=2.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=36;ESP6500_EA_AC=3409,4707;ESP6500_EA_GTC=742,1925,1391;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085487.2:intron;ESP6500_GL=MYSM1;ESP6500_GRCh38_POSITION=1:58695213;ESP6500_GTC=998,2789,2080;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001085487.2:c.69-6T>C;ESP6500_MAF=42.0034,38.0321,40.7789;ESP6500_TAC=4785,6949	GT:AD:DP:GQ:PL	0/1:11,7:18:99:155,0,266
chr1	58695310	rs34580410;rs5774423	ATACT	A	122.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.771;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.13;SOR=0.25;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5774423,rs34580410;dbSNPBuildID=132,126;ANN=A|intron_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding|1/19|c.69-107_69-104delAGTA||||||;p3_1000G_AC=1843;p3_1000G_AF=0.368011;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=19674;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.4125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59160982;p3_1000G_GRCH37_REF=ATACT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,5:10:99:160,0,296
chr1	58700166	rs11207297	T	G	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.6;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-1.868;SOR=0.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11207297;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|MYSM1|MYSM1|transcript|NM_001085487.2|protein_coding||c.-114A>C|||||91|,G|intergenic_region|MODIFIER|MYSM1-JUN|MYSM1-JUN|intergenic_region|MYSM1-JUN|||n.58700166T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1674;p3_1000G_AF=0.334265;p3_1000G_AFR_AF=0.2557;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=12663;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59165838;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:188,0,339
chr1	58783141	rs2760499	G	C	430.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2760499;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|JUN|JUN|transcript|NM_002228.3|protein_coding|1/1|c.-71C>G|||||71|,C|upstream_gene_variant|MODIFIER|LINC01135|LINC01135|transcript|NR_034014.1|pseudogene||n.-2010G>C|||||2010|,C|upstream_gene_variant|MODIFIER|LINC01135|LINC01135|transcript|NR_034015.1|pseudogene||n.-2010G>C|||||2010|,C|upstream_gene_variant|MODIFIER|LINC01135|LINC01135|transcript|NR_108106.1|pseudogene||n.-2010G>C|||||2010|;p3_1000G_AA=C|||;p3_1000G_AC=4767;p3_1000G_AF=0.951877;p3_1000G_AFR_AF=0.8268;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=15677;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59248813;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:459,45,0
chr1	59321678	rs835409	T	G	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.53;ReadPosRankSum=-2.022;SOR=0.961;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs835409;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|FGGY|FGGY|transcript|NM_001113411.1|protein_coding|2/17|c.129T>G|p.Asn43Lys|341/2087|129/1728|43/575||,G|missense_variant|MODERATE|FGGY|FGGY|transcript|NM_018291.3|protein_coding|2/16|c.129T>G|p.Asn43Lys|341/2015|129/1656|43/551||,G|missense_variant|MODERATE|FGGY|FGGY|transcript|NM_001244714.1|protein_coding|2/14|c.129T>G|p.Asn43Lys|242/1652|129/1392|43/463||,G|non_coding_transcript_exon_variant|MODIFIER|FGGY|FGGY|transcript|NR_103473.1|pseudogene|3/17|n.299T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2340;p3_1000G_AF=0.467252;p3_1000G_AFR_AF=0.5477;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=18632;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.3509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59787350;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1612,1524;ESP6500_AA_GTC=406,800,362;ESP6500_CDS_SIZES=NM_018291.3:1656,NM_001244714.1:1392,NM_001113411.1:1728;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=57;ESP6500_EA_AC=2424,4738;ESP6500_EA_GTC=428,1568,1585;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018291.3:missense,NM_001244714.1:missense,NM_001113411.1:missense;ESP6500_GL=FGGY;ESP6500_GRCh38_POSITION=1:59321678;ESP6500_GS=94,94,94;ESP6500_GTC=834,2368,1947;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018291.3:c.129T>G,NM_001244714.1:c.129T>G,NM_001113411.1:c.129T>G;ESP6500_HGVS_PROTEIN_VAR=NM_018291.3:p.(N43K),NM_001244714.1:p.(N43K),NM_001113411.1:p.(N43K);ESP6500_MAF=33.8453,48.5969,39.1921;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=4036,6262	GT:AD:DP:GQ:PL	0/1:27,12:39:99:283,0,664
chr1	59378799	rs835435	G	A	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.395;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.181;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs835435;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|FGGY|FGGY|transcript|NM_001113411.1|protein_coding|5/17|c.516G>A|p.Pro172Pro|728/2087|516/1728|172/575||,A|synonymous_variant|LOW|FGGY|FGGY|transcript|NM_018291.3|protein_coding|5/16|c.516G>A|p.Pro172Pro|728/2015|516/1656|172/551||,A|synonymous_variant|LOW|FGGY|FGGY|transcript|NM_001244714.1|protein_coding|3/14|c.252G>A|p.Pro84Pro|365/1652|252/1392|84/463||,A|non_coding_transcript_exon_variant|MODIFIER|FGGY|FGGY|transcript|NR_103473.1|pseudogene|6/17|n.686G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2470;p3_1000G_AF=0.493211;p3_1000G_AFR_AF=0.6785;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=17135;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=59844471;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2761,1645;ESP6500_AA_AGE=503.7+/-365.6;ESP6500_AA_GTC=865,1031,307;ESP6500_CDS_SIZES=NM_018291.3:1656,NM_001244714.1:1392,NM_001113411.1:1728;ESP6500_CG=0.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=115;ESP6500_EA_AC=3244,5354;ESP6500_EA_AGE=650.2+/-400.7;ESP6500_EA_GTC=630,1984,1685;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018291.3:coding-synonymous,NM_001244714.1:coding-synonymous,NM_001113411.1:coding-synonymous;ESP6500_GL=FGGY;ESP6500_GRCh38_POSITION=1:59378799;ESP6500_GTC=1495,3015,1992;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018291.3:c.516G>A,NM_001244714.1:c.252G>A,NM_001113411.1:c.516G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018291.3:p.(P172),NM_001244714.1:p.(P84),NM_001113411.1:p.(P172);ESP6500_MAF=37.7297,37.3355,46.1781;ESP6500_TAC=6005,6999	GT:AD:DP:GQ:PL	0/1:17,17:34:99:401,0,407
chr1	59762638	rs10626387;rs149130693	T	TTC	530.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10626387;dbSNPBuildID=130;ANN=TTC|3_prime_UTR_variant|MODIFIER|FGGY|FGGY|transcript|NM_001113411.1|protein_coding|17/17|c.*55_*56insCT|||||56|INFO_REALIGN_3_PRIME,TTC|3_prime_UTR_variant|MODIFIER|FGGY|FGGY|transcript|NM_018291.3|protein_coding|16/16|c.*55_*56insCT|||||56|INFO_REALIGN_3_PRIME,TTC|3_prime_UTR_variant|MODIFIER|FGGY|FGGY|transcript|NM_001244714.1|protein_coding|14/14|c.*55_*56insCT|||||56|INFO_REALIGN_3_PRIME,TTC|3_prime_UTR_variant|MODIFIER|FGGY|FGGY|transcript|NM_001278224.1|protein_coding|10/10|c.*55_*56insCT|||||56|INFO_REALIGN_3_PRIME;p3_1000G_AC=4283;p3_1000G_AF=0.855232;p3_1000G_AFR_AF=0.73;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=18566;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=60228310;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=INDEL;ESP6500_AA_AC=3174,1092;ESP6500_AA_GTC=1169,836,128;ESP6500_CDS_SIZES=NM_018291.3:1656,NM_001244714.1:1392,NM_001113411.1:1728;ESP6500_CG=-0.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=68;ESP6500_EA_AC=6907,1347;ESP6500_EA_GTC=2888,1131,108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018291.3:utr-3,NM_001244714.1:utr-3,NM_001113411.1:utr-3;ESP6500_GL=FGGY;ESP6500_GRCh38_POSITION=1:59762638;ESP6500_GTC=4057,1967,236;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018291.3:c.*54_*55insTC,NM_001244714.1:c.*54_*55insTC,NM_001113411.1:c.*54_*55insTC;ESP6500_MAF=16.3194,25.5977,19.4808;ESP6500_TAC=10081,2439	GT:AD:DP:GQ:PL	1/1:0,13:13:39:568,39,0
chr1	59815077	rs113730234;rs4140537	GT	G	84.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs113730234;dbSNPBuildID=132;ANN=G|5_prime_UTR_variant|MODIFIER|HOOK1|HOOK1|transcript|NM_015888.4|protein_coding|1/22|c.-40delT|||||40|;p3_1000G_AA=-|T|-|insertion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=8031;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=60280749;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=2820,0;ESP6500_AA_GTC=1410,0,0;ESP6500_CDS_SIZES=NM_015888.4:2187;ESP6500_CG=3.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=3;ESP6500_EA_AC=5427,3;ESP6500_EA_GTC=2712,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015888.4:utr-5;ESP6500_GL=HOOK1;ESP6500_GRCh38_POSITION=1:59815077;ESP6500_GTC=4122,3,0;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015888.4:c.-40del1;ESP6500_MAF=0.0552,0.0,0.0364;ESP6500_TAC=8247,3	GT:AD:DP:GQ:PL	1/1:0,3:3:9:121,9,0
chr1	60001142	rs626251	T	C	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.619;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.93;ReadPosRankSum=-0.911;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs626251;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|C1orf87|C1orf87|transcript|NM_152377.2|protein_coding|10/12|c.1207A>G|p.Lys403Glu|1315/2028|1207/1641|403/546||;p3_1000G_AA=T|||;p3_1000G_AC=2760;p3_1000G_AF=0.551118;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=14430;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.4483;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=60466814;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2656,1750;ESP6500_AA_AGE=635.9+/-396.5;ESP6500_AA_GTC=823,1010,370;ESP6500_CDS_SIZES=NM_152377.2:1641;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=61;ESP6500_EA_AC=3956,4644;ESP6500_EA_AGE=540.3+/-383.8;ESP6500_EA_GTC=942,2072,1286;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152377.2:missense;ESP6500_GL=C1orf87;ESP6500_GRCh38_POSITION=1:60001142;ESP6500_GS=56;ESP6500_GTC=1765,3082,1656;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152377.2:c.1207A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152377.2:p.(K403E);ESP6500_MAF=46.0,39.7186,49.1619;ESP6500_PH=benign:0.0;ESP6500_TAC=6612,6394	GT:AD:DP:GQ:PL	0/1:10,8:18:99:171,0,208
chr1	60001239	rs34585993;rs67112814;rs71582610	ACAG	A	79.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.65;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34585993,rs67112814,rs71582610;dbSNPBuildID=135,130,126;ANN=A|intron_variant|MODIFIER|C1orf87|C1orf87|transcript|NM_152377.2|protein_coding|9/11|c.1193-86_1193-84delCTG||||||	GT:AD:DP:GQ:PL	0/1:3,3:6:99:117,0,149
chr1	60039906	rs680390	A	G	432.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.85;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs680390;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|C1orf87|C1orf87|transcript|NM_152377.2|protein_coding|5/11|c.747+11T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4267;p3_1000G_AF=0.852037;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=17520;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.9006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=60505578;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3987,417;ESP6500_AA_AGE=179.4+/-207.9;ESP6500_AA_GTC=1804,379,19;ESP6500_CDS_SIZES=NM_152377.2:1641;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=80;ESP6500_EA_AC=7789,809;ESP6500_EA_AGE=181.2+/-229.9;ESP6500_EA_GTC=3527,735,37;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152377.2:intron;ESP6500_GL=C1orf87;ESP6500_GRCh38_POSITION=1:60039906;ESP6500_GTC=5331,1114,56;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152377.2:c.747+11T>C;ESP6500_MAF=9.4092,9.4687,9.4293;ESP6500_TAC=11776,1226	GT:AD:DP:GQ:PL	1/1:0,15:15:45:461,45,0
chr1	61082847	rs201335260;rs565024869	T	TG	100.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-1.068;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201335260;dbSNPBuildID=142,137;ANN=TG|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001145512.1|protein_coding|2/11|c.162+34dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001145511.1|protein_coding|1/10|c.3+5224dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001134673.3|protein_coding|1/10|c.27+34dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_005595.4|protein_coding|1/9|c.27+34dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGG|GGGGG|GGGGGG|insertion;p3_1000G_AC=257;p3_1000G_AF=0.0513179;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=5708;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61548519;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=INDEL;ESP6500_AA_AC=6,3388;ESP6500_AA_GTC=1,4,1692;ESP6500_CDS_SIZES=NM_005595.4:1497,NM_001145512.1:1665,NM_001145511.1:1506,NM_001134673.3:1530;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DP=18;ESP6500_EA_AC=2,6398;ESP6500_EA_GTC=0,2,3198;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005595.4:intron,NM_001145512.1:intron,NM_001145511.1:intron,NM_001134673.3:intron;ESP6500_GL=NFIA;ESP6500_GRCh38_POSITION=1:61082847;ESP6500_GTC=1,6,4890;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005595.4:c.27+29_27+30insG,NM_001145512.1:c.162+29_162+30insG,NM_001145511.1:c.3+5219_3+5220insG,NM_001134673.3:c.27+29_27+30insG;ESP6500_MAF=0.0312,0.1768,0.0817;ESP6500_TAC=8,9786	GT:AD:DP:GQ:PL	0/1:2,5:7:43:138,0,43
chr1	61088129	rs3767302	C	G	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767302;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001145512.1|protein_coding|2/11|c.163-20C>G||||||,G|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001145511.1|protein_coding|1/10|c.4-20C>G||||||,G|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001134673.3|protein_coding|1/10|c.28-20C>G||||||,G|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_005595.4|protein_coding|1/9|c.28-20C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1253;p3_1000G_AF=0.2502;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=15860;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.0915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61553801;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1186,3160;ESP6500_AA_GTC=155,876,1142;ESP6500_CDS_SIZES=NM_005595.4:1497,NM_001145512.1:1665,NM_001145511.1:1506,NM_001134673.3:1530;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=49;ESP6500_EA_AC=867,7669;ESP6500_EA_GTC=41,785,3442;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005595.4:intron,NM_001145512.1:intron,NM_001145511.1:intron,NM_001134673.3:intron;ESP6500_GL=NFIA;ESP6500_GRCh38_POSITION=1:61088129;ESP6500_GTC=196,1661,4584;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005595.4:c.28-20C>G,NM_001145512.1:c.163-20C>G,NM_001145511.1:c.4-20C>G,NM_001134673.3:c.28-20C>G;ESP6500_MAF=10.157,27.2895,15.937;ESP6500_TAC=2053,10829	GT:AD:DP:GQ:PL	0/1:7,13:20:99:347,0,131
chr1	61277488	rs332827	G	A	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.054;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.681;SOR=0.615;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs332827;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001145512.1|protein_coding|3/11|c.695-32G>A||||||,A|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001145511.1|protein_coding|2/10|c.536-32G>A||||||,A|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001134673.3|protein_coding|2/10|c.560-32G>A||||||,A|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_005595.4|protein_coding|2/9|c.560-32G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1754;p3_1000G_AF=0.35024;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=19083;p3_1000G_EAS_AF=0.4663;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61743160;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=458,3948;ESP6500_AA_AGE=211.5+/-231.7;ESP6500_AA_GTC=29,400,1774;ESP6500_CDS_SIZES=NM_005595.4:1497,NM_001145512.1:1665,NM_001145511.1:1506,NM_001134673.3:1530;ESP6500_CG=-1.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=82;ESP6500_EA_AC=3938,4662;ESP6500_EA_AGE=548.0+/-385.3;ESP6500_EA_GTC=906,2126,1268;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005595.4:intron,NM_001145512.1:intron,NM_001145511.1:intron,NM_001134673.3:intron;ESP6500_GL=NFIA;ESP6500_GRCh38_POSITION=1:61277488;ESP6500_GTC=935,2526,3042;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005595.4:c.560-32G>A,NM_001145512.1:c.695-32G>A,NM_001145511.1:c.536-32G>A,NM_001134673.3:c.560-32G>A;ESP6500_MAF=45.7907,10.3949,33.7998;ESP6500_TAC=4396,8610	GT:AD:DP:GQ:PL	0/1:16,19:35:99:474,0,392
chr1	61404111	rs2236059	G	A	2624.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.83;SOR=1.691;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236059;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|NFIA|NFIA|transcript|NM_001145512.1|protein_coding|9/12|c.1218G>A|p.Pro406Pro|1300/9215|1218/1665|406/554||,A|synonymous_variant|LOW|NFIA|NFIA|transcript|NM_001145511.1|protein_coding|8/11|c.1059G>A|p.Pro353Pro|1411/9326|1059/1506|353/501||,A|synonymous_variant|LOW|NFIA|NFIA|transcript|NM_001134673.3|protein_coding|8/11|c.1083G>A|p.Pro361Pro|1567/9482|1083/1530|361/509||,A|synonymous_variant|LOW|NFIA|NFIA|transcript|NM_005595.4|protein_coding|8/10|c.1083G>A|p.Pro361Pro|1567/9390|1083/1497|361/498||;p3_1000G_AA=G|||;p3_1000G_AC=1772;p3_1000G_AF=0.353834;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19329;p3_1000G_EAS_AF=0.5625;p3_1000G_EUR_AF=0.2853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61869783;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1259,3147;ESP6500_AA_AGE=433.3+/-343.5;ESP6500_AA_GTC=179,901,1123;ESP6500_CDS_SIZES=NM_005595.4:1497,NM_001145512.1:1665,NM_001145511.1:1506,NM_001134673.3:1530;ESP6500_CG=-10.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=165;ESP6500_EA_AC=2299,6301;ESP6500_EA_AGE=387.1+/-342.1;ESP6500_EA_GTC=331,1637,2332;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005595.4:coding-synonymous,NM_001145512.1:coding-synonymous,NM_001145511.1:coding-synonymous,NM_001134673.3:coding-synonymous;ESP6500_GL=NFIA;ESP6500_GRCh38_POSITION=1:61404111;ESP6500_GTC=510,2538,3455;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005595.4:c.1083G>A,NM_001145512.1:c.1218G>A,NM_001145511.1:c.1059G>A,NM_001134673.3:c.1083G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005595.4:p.(P361),NM_001145512.1:p.(P406),NM_001145511.1:p.(P353),NM_001134673.3:p.(P361);ESP6500_MAF=26.7326,28.5747,27.3566;ESP6500_TAC=3558,9448	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2653,264,0
chr1	61406556	rs2474380	C	T	577.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.89;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28641100;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|NFIA|NFIA|transcript|NM_001145512.1|protein_coding|9/11|c.1390-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NFIA|NFIA|transcript|NM_001145511.1|protein_coding|8/10|c.1231-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NFIA|NFIA|transcript|NM_001134673.3|protein_coding|8/10|c.1255-6C>T||||||,T|splice_region_variant&intron_variant|LOW|NFIA|NFIA|transcript|NM_005595.4|protein_coding|8/9|c.1255-6C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2402;p3_1000G_AF=0.479633;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=11149;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.2664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61872228;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:58:606,58,0
chr1	61426629	rs397779589;rs5774558	T	TG	1380.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5774558;dbSNPBuildID=130,138;ANN=TG|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001145512.1|protein_coding|11/11|c.1647+74dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001145511.1|protein_coding|10/10|c.1488+74dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_001134673.3|protein_coding|10/10|c.1512+74dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|NFIA|NFIA|transcript|NM_005595.4|protein_coding|9/9|c.1420+19903dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18937;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61892301;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1418,114,0
chr1	61694870	rs1151765	A	G	228.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1151765;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|TM2D1|TM2D1|transcript|NM_032027.2|protein_coding|4/6|c.440-100T>C||||||,G|intron_variant|MODIFIER|TM2D1|TM2D1|transcript|NR_135160.1|pseudogene|4/7|n.743-100T>C||||||,G|intron_variant|MODIFIER|TM2D1|TM2D1|transcript|NR_135161.1|pseudogene|4/5|n.742+6064T>C||||||,G|intron_variant|MODIFIER|TM2D1|TM2D1|transcript|NR_135162.1|pseudogene|4/7|n.766-100T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4649;p3_1000G_AF=0.928315;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=13898;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.9334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62160542;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9755;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:257,21,0
chr1	61766252	rs141761262;rs34823754;~rs34823754	T	TTGA	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141761262;dbSNPBuildID=134,126;ANN=TTGA|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|3/42|c.190-25_190-23dupGAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3421;p3_1000G_AF=0.683107;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=16034;p3_1000G_EAS_AF=0.871;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62231924;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7474;p3_1000G_VT=INDEL;ESP6500_AA_AC=2405,1857;ESP6500_AA_GTC=704,997,430;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=54;ESP6500_EA_AC=5248,3004;ESP6500_EA_GTC=1695,1858,573;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:intron;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61766252;ESP6500_GTC=2399,2855,1003;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.190-27_190-26insTGA;ESP6500_MAF=36.4033,43.5711,38.8445;ESP6500_TAC=7653,4861	GT:AD:DP:GQ:PL	1/1:0,6:6:18:270,18,0
chr1	61766359	rs1286835	C	T	831.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=1.46;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1286835;dbSNPBuildID=87;ANN=T|synonymous_variant|LOW|PATJ|PATJ|transcript|NM_176877.2|protein_coding|4/43|c.270C>T|p.Ile90Ile|384/8504|270/5406|90/1801||;p3_1000G_AA=T|||;p3_1000G_AC=4558;p3_1000G_AF=0.910144;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=14777;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62232031;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3307,1099;ESP6500_AA_AGE=396.5+/-330.1;ESP6500_AA_GTC=1255,797,151;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=2.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=126;ESP6500_EA_AC=8445,155;ESP6500_EA_AGE=74.5+/-137.1;ESP6500_EA_GTC=4147,151,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:coding-synonymous;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61766359;ESP6500_GTC=5402,948,153;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.270C>T;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(I90);ESP6500_MAF=1.8023,24.9433,9.6417;ESP6500_TAC=11752,1254	GT:AD:DP:GQ:PL	1/1:0,29:29:87:860,87,0
chr1	61766458	rs11207827	T	C	391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.176;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.035;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11207827;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|PATJ|PATJ|transcript|NM_176877.2|protein_coding|4/43|c.369T>C|p.Ile123Ile|483/8504|369/5406|123/1801||;p3_1000G_AA=T|||;p3_1000G_AC=1284;p3_1000G_AF=0.25639;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=15265;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62232130;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1415,2991;ESP6500_AA_AGE=455.3+/-351.0;ESP6500_AA_GTC=237,941,1025;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=-1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=85;ESP6500_EA_AC=2102,6498;ESP6500_EA_AGE=359.3+/-331.5;ESP6500_EA_GTC=269,1564,2467;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:coding-synonymous;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61766458;ESP6500_GTC=506,2505,3492;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.369T>C;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(I123);ESP6500_MAF=24.4419,32.1153,27.0414;ESP6500_TAC=3517,9489	GT:AD:DP:GQ:PL	0/1:12,16:28:99:420,0,326
chr1	61787811	rs3762321	G	A	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.406;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-1.202;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762321;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|PATJ|PATJ|transcript|NM_176877.2|protein_coding|8/43|c.907G>A|p.Gly303Arg|1021/8504|907/5406|303/1801||;p3_1000G_AA=G|||;p3_1000G_AC=588;p3_1000G_AF=0.117412;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=19692;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62253483;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=110,4296;ESP6500_AA_AGE=85.8+/-124.5;ESP6500_AA_GTC=5,100,2098;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=91;ESP6500_EA_AC=758,7842;ESP6500_EA_AGE=181.6+/-230.3;ESP6500_EA_GTC=36,686,3578;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_176877.2:missense;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61787811;ESP6500_GS=125;ESP6500_GTC=41,786,5676;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.907G>A;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(G303R);ESP6500_MAF=8.814,2.4966,6.6738;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=868,12138	GT:AD:DP:GQ:PL	0/1:26,14:40:99:371,0,727
chr1	61791551	rs3790577	A	G	222.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.91;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3790577;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|9/42|c.1168+104A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2240;p3_1000G_AF=0.447284;p3_1000G_AFR_AF=0.2179;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=16278;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.502;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62257223;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:251,18,0
chr1	61795496	rs7516332	A	G	1040.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7516332;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|PATJ|PATJ|transcript|NM_176877.2|protein_coding|10/43|c.1198A>G|p.Ile400Val|1312/8504|1198/5406|400/1801||;p3_1000G_AA=A|||;p3_1000G_AC=2178;p3_1000G_AF=0.434904;p3_1000G_AFR_AF=0.1808;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=17382;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62261168;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1074,3332;ESP6500_AA_AGE=387.2+/-326.4;ESP6500_AA_GTC=136,802,1265;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=-3.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=110;ESP6500_EA_AC=4169,4431;ESP6500_EA_AGE=566.8+/-388.7;ESP6500_EA_GTC=1023,2123,1154;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_176877.2:missense;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61795496;ESP6500_GS=29;ESP6500_GTC=1159,2925,2419;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.1198A>G;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(I400V);ESP6500_MAF=48.4767,24.3759,40.3122;ESP6500_PH=benign:0.013;ESP6500_TAC=5243,7763	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1069,96,0
chr1	61808640	rs3790576	G	A	382.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.8;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3790576;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|14/42|c.1683+110G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2189;p3_1000G_AF=0.437101;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=17321;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62274312;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:411,33,0
chr1	61864408	rs2799627	T	G	2478.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2799627;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|PATJ|PATJ|transcript|NM_176877.2|protein_coding|20/43|c.2610T>G|p.Ile870Met|2724/8504|2610/5406|870/1801||;p3_1000G_AA=G|||;p3_1000G_AC=4962;p3_1000G_AF=0.990815;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20953;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62330080;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4244,162;ESP6500_AA_AGE=109.9+/-148.2;ESP6500_AA_GTC=2046,152,5;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=123;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_176877.2:missense;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61864408;ESP6500_GS=10;ESP6500_GTC=6345,153,5;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.2610T>G;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(I870M);ESP6500_MAF=0.0116,3.6768,1.2533;ESP6500_PH=benign:0.0;ESP6500_TAC=12843,163	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2507,228,0
chr1	61875485	rs4598521	T	C	184.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4598521;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|21/42|c.2959+119T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3626;p3_1000G_AF=0.724042;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=6811;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.7068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62341157;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:213,18,0
chr1	61884446	rs61089534	T	C	529.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.72;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=1.72;SOR=0.407;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61089534;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|22/42|c.3131+38T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=142;p3_1000G_AF=0.0283546;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=15006;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62350118;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=8,4398;ESP6500_AA_AGE=14.3+/-33.2;ESP6500_AA_GTC=0,8,2195;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=45;ESP6500_EA_AC=0,8596;ESP6500_EA_GTC=0,0,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:intron;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61884446;ESP6500_GTC=0,8,6493;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.3131+38T>C;ESP6500_MAF=0.0,0.1816,0.0615;ESP6500_TAC=8,12994	GT:AD:DP:GQ:PL	0/1:12,16:28:99:558,0,383
chr1	61899545	rs1412622	C	T	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.16;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=2.25;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1412622;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|22/42|c.3132-38C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2796;p3_1000G_AF=0.558307;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=16862;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.6869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62365217;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2181,2225;ESP6500_AA_GTC=535,1111,557;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=90;ESP6500_EA_AC=5914,2686;ESP6500_EA_GTC=2057,1800,443;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:intron;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61899545;ESP6500_GTC=2592,2911,1000;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.3132-38C>T;ESP6500_MAF=31.2326,49.5007,37.7595;ESP6500_TAC=8095,4911	GT:AD:DP:GQ:PL	0/1:4,7:11:99:216,0,100
chr1	61901206	rs2499002	T	G	389.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.2;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2499002;dbSNPBuildID=100;ANN=G|sequence_feature|LOW|PATJ|PATJ|domain:PDZ_6|NM_176877.2|protein_coding|23/42|c.3204-76T>G||||||,G|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|23/42|c.3204-76T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4031;p3_1000G_AF=0.804912;p3_1000G_AFR_AF=0.7012;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=15824;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62366878;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:418,33,0
chr1	61908595	rs2151122	T	C	142.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.28;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2151122;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|25/42|c.3492+113T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4424;p3_1000G_AF=0.883387;p3_1000G_AFR_AF=0.9788;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=19771;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62374267;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:170,12,0
chr1	61914598	rs1134766	C	T	800.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.69;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1134766;dbSNPBuildID=102;ANN=T|synonymous_variant|LOW|PATJ|PATJ|transcript|NM_176877.2|protein_coding|26/43|c.3504C>T|p.Asn1168Asn|3618/8504|3504/5406|1168/1801||;p3_1000G_AA=T|||;p3_1000G_AC=3891;p3_1000G_AF=0.776957;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=16169;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.7247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62380270;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3886,520;ESP6500_AA_AGE=235.5+/-248.0;ESP6500_AA_GTC=1717,452,34;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=99;ESP6500_EA_AC=6417,2183;ESP6500_EA_AGE=373.2+/-336.9;ESP6500_EA_GTC=2396,1625,279;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:coding-synonymous;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61914598;ESP6500_GTC=4113,2077,313;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.3504C>T;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(N1168);ESP6500_MAF=25.3837,11.8021,20.7827;ESP6500_TAC=10303,2703	GT:AD:DP:GQ:PL	1/1:0,30:30:88:829,88,0
chr1	61914626	rs1056513	G	A	954.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1056513;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|PATJ|PATJ|transcript|NM_176877.2|protein_coding|26/43|c.3532G>A|p.Gly1178Ser|3646/8504|3532/5406|1178/1801||;p3_1000G_AA=A|||;p3_1000G_AC=2229;p3_1000G_AF=0.445088;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=16917;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.6282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62380298;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=714,3692;ESP6500_AA_AGE=752.8+/-412.3;ESP6500_AA_GTC=71,572,1560;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=93;ESP6500_EA_AC=5597,3003;ESP6500_EA_AGE=463.5+/-366.0;ESP6500_EA_GTC=1816,1965,519;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_176877.2:missense;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61914626;ESP6500_GS=56;ESP6500_GTC=1887,2537,2079;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23251661;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.3532G>A;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(G1178S);ESP6500_MAF=34.9186,16.2052,48.5238;ESP6500_PH=benign:0.0;ESP6500_TAC=6311,6695	GT:AD:DP:GQ:PL	1/1:0,32:32:96:983,96,0
chr1	61918221	rs397720065;rs61047358	T	TAG	502.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.86;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61047358;dbSNPBuildID=138,138;ANN=TAG|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|26/42|c.3570+3558_3570+3559dupAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4447;p3_1000G_AF=0.887979;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=16878;p3_1000G_EAS_AF=0.8095;p3_1000G_EUR_AF=0.8837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62383893;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:36:540,36,0
chr1	61927722	rs2251182	A	G	1746.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.12;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2251182;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|PATJ|PATJ|transcript|NM_176877.2|protein_coding|26/42|c.3571-8A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4240;p3_1000G_AF=0.846645;p3_1000G_AFR_AF=0.8707;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=17018;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.8499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62393394;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3855,551;ESP6500_AA_AGE=246.5+/-255.1;ESP6500_AA_GTC=1682,491,30;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=0.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=7446,1154;ESP6500_EA_AGE=236.2+/-268.5;ESP6500_EA_GTC=3234,978,88;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:intron;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61927722;ESP6500_GTC=4916,1469,118;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.3571-8A>G;ESP6500_MAF=13.4186,12.5057,13.1093;ESP6500_TAC=11301,1705	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1775,174,0
chr1	61927903	rs117650593	C	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.313;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=0.81;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117650593;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|27/42|c.3670+74C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19453;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62393575;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:178,0,349
chr1	61952279	rs34974949	A	AG	290.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=138;ANN=AG|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|27/42|c.3670+24450_3670+24451insG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:23:1|1:61952279_A_AG:328,23,0
chr1	61952280	rs34366135	A	AGAGAGAGAG	290.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.37;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=126;ANN=AGAGAGAGAG|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|27/42|c.3670+24451_3670+24452insGAGAGAGAG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:23:1|1:61952279_A_AG:328,23,0
chr1	61990342	rs1134767	G	A	581.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.605;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.008;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1134767;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|PATJ|PATJ|transcript|NM_176877.2|protein_coding|28/43|c.3845G>A|p.Arg1282His|3959/8504|3845/5406|1282/1801||;p3_1000G_AA=A|||;p3_1000G_AC=2378;p3_1000G_AF=0.47484;p3_1000G_AFR_AF=0.553;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=14762;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.4066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62456014;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2162,2244;ESP6500_AA_AGE=593.7+/-388.1;ESP6500_AA_GTC=566,1030,607;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=76;ESP6500_EA_AC=3630,4970;ESP6500_EA_AGE=625.1+/-397.7;ESP6500_EA_GTC=782,2066,1452;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_176877.2:missense;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61990342;ESP6500_GS=29;ESP6500_GTC=1348,3096,2059;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.3845G>A;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(R1282H);ESP6500_MAF=42.2093,49.0695,44.5333;ESP6500_PH=benign:0.002;ESP6500_TAC=5792,7214	GT:AD:DP:GQ:PL	0/1:18,25:43:99:610,0,502
chr1	61990376	rs12730210	G	A	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.096;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.113;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=1.15;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12730210;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|28/42|c.3867+12G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1740;p3_1000G_AF=0.347444;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=15108;p3_1000G_EAS_AF=0.4454;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62456048;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1502,2904;ESP6500_AA_AGE=674.8+/-403.0;ESP6500_AA_GTC=285,932,986;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=-9.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=51;ESP6500_EA_AC=2065,6535;ESP6500_EA_AGE=718.6+/-406.2;ESP6500_EA_GTC=258,1549,2493;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:intron;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:61990376;ESP6500_GTC=543,2481,3479;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.3867+12G>A;ESP6500_MAF=24.0116,34.0899,27.4258;ESP6500_TAC=3567,9439	GT:AD:DP:GQ:PL	0/1:20,26:46:99:620,0,495
chr1	62017728	rs1312317891	T	A	12.99	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=1.15;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|28/42|c.3868-128T>A||||||	GT:AD:DP:GQ:PL	0/1:3,1:4:41:41,0,120
chr1	62017729	rs745362067	C	CA	66.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=22.24;SOR=1.981;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=CA|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|28/42|c.3868-109dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,3:3:5:49,0,5
chr1	62038496	rs4073681	G	T	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.105;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-0.227;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4073681;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|30/42|c.4032+447G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1572;p3_1000G_AF=0.313898;p3_1000G_AFR_AF=0.1967;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=15067;p3_1000G_EAS_AF=0.2659;p3_1000G_EUR_AF=0.2753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62504168;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:265,0,300
chr1	62038549	rs4915602	G	A	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.929;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.643;SOR=0.252;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915602;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|30/42|c.4032+500G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2904;p3_1000G_AF=0.579872;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=14683;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.5437;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62504221;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:163,0,215
chr1	62051011	rs2498982	G	C	687.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.542;SOR=0.533;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2498982;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|PATJ|PATJ|transcript|NM_176877.2|protein_coding|31/43|c.4078G>C|p.Val1360Leu|4192/8504|4078/5406|1360/1801||;p3_1000G_AA=C|||;p3_1000G_AC=2859;p3_1000G_AF=0.570887;p3_1000G_AFR_AF=0.767;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=21408;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.5467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62516683;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3120,1286;ESP6500_AA_AGE=436.6+/-344.7;ESP6500_AA_GTC=1097,926,180;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=139;ESP6500_EA_AC=4775,3825;ESP6500_EA_AGE=540.0+/-383.7;ESP6500_EA_GTC=1347,2081,872;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_176877.2:missense;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:62051011;ESP6500_GS=32;ESP6500_GTC=2444,3007,1052;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.4078G>C;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(V1360L);ESP6500_MAF=44.4767,29.1875,39.2972;ESP6500_PH=benign:0.001;ESP6500_TAC=7895,5111	GT:AD:DP:GQ:PL	0/1:17,26:43:99:716,0,386
chr1	62113851	rs1475565	C	T	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.294;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.637;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1475565;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|34/42|c.4462-202C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3047;p3_1000G_AF=0.608427;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=19800;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62579523;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,11:25:99:278,0,483
chr1	62114000	rs1475564	A	C	2428.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.7;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1475564;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|34/42|c.4462-53A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4023;p3_1000G_AF=0.803315;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=17734;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.6889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62579672;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2457,210,0
chr1	62114119	rs372893315	C	G	1075.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.989;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=8.195;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-2.237;SOR=1.042;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372893315;dbSNPBuildID=138;ANN=G|missense_variant|MODERATE|PATJ|PATJ|transcript|NM_176877.2|protein_coding|35/43|c.4528C>G|p.Gln1510Glu|4642/8504|4528/5406|1510/1801||,G|sequence_feature|LOW|PATJ|PATJ|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_176877.2|protein_coding|35/43|c.4528C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18078;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62579791;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=66;ESP6500_EA_AC=1,8599;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:missense;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:62114119;ESP6500_GS=29;ESP6500_GTC=0,1,6502;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.4528C>G;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(Q1510E);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_PH=possibly-damaging:0.908;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1104,0,1350
chr1	62114151	rs1475563	G	A	912.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.681;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=5.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=2.44;SOR=1.033;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1475563;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|PATJ|PATJ|transcript|NM_176877.2|protein_coding|35/43|c.4560G>A|p.Glu1520Glu|4674/8504|4560/5406|1520/1801||;p3_1000G_AA=G|||;p3_1000G_AC=3050;p3_1000G_AF=0.609026;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=16626;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.66;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62579823;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2062,2344;ESP6500_AA_AGE=568.4+/-382.4;ESP6500_AA_GTC=473,1116,614;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=80;ESP6500_EA_AC=6007,2593;ESP6500_EA_AGE=688.6+/-404.3;ESP6500_EA_GTC=2086,1835,379;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:coding-synonymous;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:62114151;ESP6500_GTC=2559,2951,993;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.4560G>A;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(E1520);ESP6500_MAF=30.1512,46.7998,37.9594;ESP6500_TAC=8069,4937	GT:AD:DP:GQ:PL	0/1:57,39:96:99:941,0,1493
chr1	62114235	rs7418709	C	T	599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.368;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=2.152;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-1.586;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7418709;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|PATJ|PATJ|transcript|NM_176877.2|protein_coding|35/43|c.4644C>T|p.Ile1548Ile|4758/8504|4644/5406|1548/1801||;p3_1000G_AA=C|||;p3_1000G_AC=1490;p3_1000G_AF=0.297524;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=18642;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62579907;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1137,3269;ESP6500_AA_AGE=404.9+/-333.3;ESP6500_AA_GTC=157,823,1223;ESP6500_CDS_SIZES=NM_176877.2:5406;ESP6500_CG=-0.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=56;ESP6500_EA_AC=762,7838;ESP6500_EA_AGE=182.0+/-230.6;ESP6500_EA_GTC=39,684,3577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176877.2:coding-synonymous;ESP6500_GL=INADL;ESP6500_GRCh38_POSITION=1:62114235;ESP6500_GTC=196,1507,4800;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_176877.2:c.4644C>T;ESP6500_HGVS_PROTEIN_VAR=NM_176877.2:p.(I1548);ESP6500_MAF=8.8605,25.8057,14.601;ESP6500_TAC=1899,11107	GT:AD:DP:GQ:PL	0/1:42,28:70:99:628,0,1031
chr1	62121304	rs776489897	C	T	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.176;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.06;ReadPosRankSum=0.935;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|38/42|c.5005+9C>T||||||	GT:AD:DP:GQ:PL	0/1:10,3:13:68:68,0,279
chr1	62121342	rs71582664	T	TA	15.01	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=0.319;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71582664,rs4019806;dbSNPBuildID=130;ANN=TA|intron_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|38/42|c.5005+59dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1796;p3_1000G_AF=0.358626;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=16307;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.5467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62587014;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,3:4:15:52,0,15
chr1	62162828	rs58055963;rs796299234	TCC	T	79.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.126;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs58055963;dbSNPBuildID=137,146;ANN=T|3_prime_UTR_variant|MODIFIER|PATJ|PATJ|transcript|NM_176877.2|protein_coding|43/43|c.*1895_*1896delCC|||||1895|INFO_REALIGN_3_PRIME;p3_1000G_AC=1443;p3_1000G_AF=0.288139;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=13619;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62628500;p3_1000G_GRCH37_REF=TCC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,3:6:99:117,0,124
chr1	62178446	rs2481703	A	G	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-1.074;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2481703;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|PATJ-L1TD1|PATJ-L1TD1|intergenic_region|PATJ-L1TD1|||n.62178446A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3607;p3_1000G_AF=0.720248;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=21916;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.5368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62644118;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,15:46:99:422,0,925
chr1	62206874	rs2457829	G	A	485.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.2;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=6.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=1.6;SOR=1.815;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2457829;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|L1TD1|L1TD1|transcript|NM_001164835.1|protein_coding|4/5|c.246G>A|p.Gly82Gly|681/3989|246/2598|82/865||,A|synonymous_variant|LOW|L1TD1|L1TD1|transcript|NM_019079.4|protein_coding|3/4|c.246G>A|p.Gly82Gly|570/3878|246/2598|82/865||;p3_1000G_AA=A|||;p3_1000G_AC=4411;p3_1000G_AF=0.880791;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=18873;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62672546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7679;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4250,148;ESP6500_AA_GTC=2052,146,1;ESP6500_CDS_SIZES=NM_019079.4:2598,NM_001164835.1:2598;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=7233,1357;ESP6500_EA_GTC=3054,1125,116;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019079.4:coding-synonymous,NM_001164835.1:coding-synonymous;ESP6500_GL=L1TD1;ESP6500_GRCh38_POSITION=1:62206874;ESP6500_GTC=5106,1271,117;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019079.4:c.246G>A,NM_001164835.1:c.246G>A;ESP6500_HGVS_PROTEIN_VAR=NM_019079.4:p.(G82),NM_001164835.1:p.(G82);ESP6500_MAF=15.7974,3.3652,11.5876;ESP6500_TAC=11483,1505	GT:AD:DP:GQ:PL	0/1:9,18:27:99:514,0,193
chr1	62207365	rs7542665	T	C	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.217;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.597;SOR=1.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7542665;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|L1TD1|L1TD1|transcript|NM_001164835.1|protein_coding|4/5|c.737T>C|p.Val246Ala|1172/3989|737/2598|246/865||,C|missense_variant|MODERATE|L1TD1|L1TD1|transcript|NM_019079.4|protein_coding|3/4|c.737T>C|p.Val246Ala|1061/3878|737/2598|246/865||;p3_1000G_AA=C|||;p3_1000G_AC=2886;p3_1000G_AF=0.576278;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=18230;p3_1000G_EAS_AF=0.3234;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62673037;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2331,985;ESP6500_AA_GTC=819,693,146;ESP6500_CDS_SIZES=NM_019079.4:2598,NM_001164835.1:2598;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=22;ESP6500_EA_AC=4158,1766;ESP6500_EA_GTC=1472,1214,276;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019079.4:missense,NM_001164835.1:missense;ESP6500_GL=L1TD1;ESP6500_GRCh38_POSITION=1:62207365;ESP6500_GS=64,64;ESP6500_GTC=2291,1907,422;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_019079.4:c.737T>C,NM_001164835.1:c.737T>C;ESP6500_HGVS_PROTEIN_VAR=NM_019079.4:p.(V246A),NM_001164835.1:p.(V246A);ESP6500_MAF=29.8109,29.7045,29.7727;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=6489,2751	GT:AD:DP:GQ:PL	0/1:18,16:34:99:457,0,446
chr1	62207553	rs7533274	G	A	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.128;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.039;SOR=1.718;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7533274;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|L1TD1|L1TD1|transcript|NM_001164835.1|protein_coding|4/5|c.925G>A|p.Val309Met|1360/3989|925/2598|309/865||,A|missense_variant|MODERATE|L1TD1|L1TD1|transcript|NM_019079.4|protein_coding|3/4|c.925G>A|p.Val309Met|1249/3878|925/2598|309/865||;p3_1000G_AA=A|||;p3_1000G_AC=2693;p3_1000G_AF=0.53774;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=17049;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.6491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62673225;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1915,1165;ESP6500_AA_GTC=599,717,224;ESP6500_CDS_SIZES=NM_019079.4:2598,NM_001164835.1:2598;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=26;ESP6500_EA_AC=3571,1855;ESP6500_EA_GTC=1207,1157,349;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019079.4:missense,NM_001164835.1:missense;ESP6500_GL=L1TD1;ESP6500_GRCh38_POSITION=1:62207553;ESP6500_GS=21,21;ESP6500_GTC=1806,1874,573;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019079.4:c.925G>A,NM_001164835.1:c.925G>A;ESP6500_HGVS_PROTEIN_VAR=NM_019079.4:p.(V309M),NM_001164835.1:p.(V309M);ESP6500_MAF=34.1872,37.8247,35.5043;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=5486,3020	GT:AD:DP:GQ:PL	0/1:14,13:27:99:356,0,371
chr1	62209713	rs7516863	A	G	90.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-0.253;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7516863;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|L1TD1|L1TD1|transcript|NM_001164835.1|protein_coding|4/4|c.1009-70A>G||||||,G|intron_variant|MODIFIER|L1TD1|L1TD1|transcript|NM_019079.4|protein_coding|3/3|c.1009-70A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=816;p3_1000G_AF=0.162939;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=17720;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62675385;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:27:119,0,27
chr1	62210037	rs7551777	T	C	209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.334;SOR=0.715;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7551777;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|L1TD1|L1TD1|transcript|NM_001164835.1|protein_coding|5/5|c.1263T>C|p.Ala421Ala|1698/3989|1263/2598|421/865||,C|synonymous_variant|LOW|L1TD1|L1TD1|transcript|NM_019079.4|protein_coding|4/4|c.1263T>C|p.Ala421Ala|1587/3878|1263/2598|421/865||;p3_1000G_AA=C|||;p3_1000G_AC=794;p3_1000G_AF=0.158546;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=17352;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.0765;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62675709;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=649,3757;ESP6500_AA_AGE=753.8+/-412.4;ESP6500_AA_GTC=46,557,1600;ESP6500_CDS_SIZES=NM_019079.4:2598,NM_001164835.1:2598;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=38;ESP6500_EA_AC=650,7950;ESP6500_EA_AGE=785.3+/-407.6;ESP6500_EA_GTC=27,596,3677;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019079.4:coding-synonymous,NM_001164835.1:coding-synonymous;ESP6500_GL=L1TD1;ESP6500_GRCh38_POSITION=1:62210037;ESP6500_GTC=73,1153,5277;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_019079.4:c.1263T>C,NM_001164835.1:c.1263T>C;ESP6500_HGVS_PROTEIN_VAR=NM_019079.4:p.(A421),NM_001164835.1:p.(A421);ESP6500_MAF=7.5581,14.7299,9.9877;ESP6500_TAC=1299,11707	GT:AD:DP:GQ:PL	0/1:14,9:23:99:238,0,353
chr1	62210220	rs2481694	A	G	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.07;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.545;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=-1.126;SOR=0.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2481694;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|L1TD1|L1TD1|transcript|NM_001164835.1|protein_coding|5/5|c.1446A>G|p.Glu482Glu|1881/3989|1446/2598|482/865||,G|synonymous_variant|LOW|L1TD1|L1TD1|transcript|NM_019079.4|protein_coding|4/4|c.1446A>G|p.Glu482Glu|1770/3878|1446/2598|482/865||;p3_1000G_AA=G|||;p3_1000G_AC=2542;p3_1000G_AF=0.507588;p3_1000G_AFR_AF=0.5166;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=21834;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.6481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62675892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2369,2037;ESP6500_AA_AGE=556.1+/-379.4;ESP6500_AA_GTC=633,1103,467;ESP6500_CDS_SIZES=NM_019079.4:2598,NM_001164835.1:2598;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=5648,2952;ESP6500_EA_AGE=456.8+/-364.2;ESP6500_EA_GTC=1859,1930,511;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019079.4:coding-synonymous,NM_001164835.1:coding-synonymous;ESP6500_GL=L1TD1;ESP6500_GRCh38_POSITION=1:62210220;ESP6500_GTC=2492,3033,978;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019079.4:c.1446A>G,NM_001164835.1:c.1446A>G;ESP6500_HGVS_PROTEIN_VAR=NM_019079.4:p.(E482),NM_001164835.1:p.(E482);ESP6500_MAF=34.3256,46.2324,38.3592;ESP6500_TAC=8017,4989	GT:AD:DP:GQ:PL	0/1:11,15:26:99:470,0,270
chr1	62210419	rs11207933	C	A	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.642;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.11;SOR=1.174;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11207933;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|L1TD1|L1TD1|transcript|NM_001164835.1|protein_coding|5/5|c.1645C>A|p.Pro549Thr|2080/3989|1645/2598|549/865||,A|missense_variant|MODERATE|L1TD1|L1TD1|transcript|NM_019079.4|protein_coding|4/4|c.1645C>A|p.Pro549Thr|1969/3878|1645/2598|549/865||;p3_1000G_AA=C|||;p3_1000G_AC=944;p3_1000G_AF=0.188498;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=19633;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62676091;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=718,3688;ESP6500_AA_AGE=293.8+/-282.8;ESP6500_AA_GTC=59,600,1544;ESP6500_CDS_SIZES=NM_019079.4:2598,NM_001164835.1:2598;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=75;ESP6500_EA_AC=1059,7541;ESP6500_EA_AGE=223.0+/-259.9;ESP6500_EA_GTC=64,931,3305;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019079.4:missense,NM_001164835.1:missense;ESP6500_GL=L1TD1;ESP6500_GRCh38_POSITION=1:62210419;ESP6500_GS=38,38;ESP6500_GTC=123,1531,4849;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_019079.4:c.1645C>A,NM_001164835.1:c.1645C>A;ESP6500_HGVS_PROTEIN_VAR=NM_019079.4:p.(P549T),NM_001164835.1:p.(P549T);ESP6500_MAF=12.314,16.296,13.6629;ESP6500_PH=benign:0.211,benign:0.211;ESP6500_TAC=1777,11229	GT:AD:DP:GQ:PL	0/1:13,16:29:99:379,0,391
chr1	62238462	rs41289438	A	G	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.727;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=12.882;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.915;SOR=0.02;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41289438;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_181712.4|protein_coding|9/9|c.2884-81T>C||||||,G|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|8/8|c.1000-81T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1418;p3_1000G_AF=0.283147;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18472;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.3748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62704134;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,13:20:99:301,0,209
chr1	62247552	rs2941679	C	G	2192.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=0.84;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2941679;dbSNPBuildID=101;ANN=G|missense_variant|MODERATE|KANK4|KANK4|transcript|NM_181712.4|protein_coding|9/10|c.2803G>C|p.Val935Leu|3180/5477|2803/2988|935/995||,G|missense_variant|MODERATE|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|8/9|c.919G>C|p.Val307Leu|1298/3595|919/1104|307/367||;p3_1000G_AA=G|||;p3_1000G_AC=4939;p3_1000G_AF=0.986222;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=19521;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62713224;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9744;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4372,34;ESP6500_AA_AGE=37.6+/-69.7;ESP6500_AA_GTC=2169,34,0;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=82;ESP6500_EA_AC=8254,346;ESP6500_EA_AGE=118.5+/-177.9;ESP6500_EA_GTC=3962,330,8;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181712.4:missense;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62247552;ESP6500_GS=32;ESP6500_GTC=6131,364,8;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2803G>C;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(V935L);ESP6500_MAF=4.0233,0.7717,2.9217;ESP6500_PH=benign:0.0;ESP6500_TAC=12626,380	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2221,213,0
chr1	62247574	rs10889315	G	A	883.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.197;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.917;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10889315;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|9/10|c.2781C>T|p.His927His|3158/5477|2781/2988|927/995||,A|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|8/9|c.897C>T|p.His299His|1276/3595|897/1104|299/367||;p3_1000G_AA=G|||;p3_1000G_AC=1597;p3_1000G_AF=0.31889;p3_1000G_AFR_AF=0.3026;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=20100;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.4195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62713246;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4008;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1464,2942;ESP6500_AA_AGE=472.6+/-356.4;ESP6500_AA_GTC=242,980,981;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=-4.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=88;ESP6500_EA_AC=3620,4980;ESP6500_EA_AGE=522.0+/-380.0;ESP6500_EA_GTC=769,2082,1449;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:coding-synonymous;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62247574;ESP6500_GTC=1011,3062,2430;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2781C>T;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(H927);ESP6500_MAF=42.093,33.2274,39.0897;ESP6500_TAC=5084,7922	GT:AD:DP:GQ:PL	0/1:35,40:75:99:912,0,1350
chr1	62247580	rs187338839	C	T	893.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.549;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.103;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187338839;dbSNPBuildID=135;ANN=T|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|9/10|c.2775G>A|p.Gln925Gln|3152/5477|2775/2988|925/995||,T|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|8/9|c.891G>A|p.Gln297Gln|1270/3595|891/1104|297/367||;p3_1000G_AA=C|||;p3_1000G_AC=34;p3_1000G_AF=0.00678914;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20201;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62713252;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,38:76:99:922,0,1493
chr1	62263112	rs2666472	A	G	1681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=2.024;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2666472;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|KANK4|KANK4|transcript|NM_181712.4|protein_coding|7/10|c.2519T>C|p.Val840Ala|2896/5477|2519/2988|840/995||,G|missense_variant|MODERATE|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|6/9|c.635T>C|p.Val212Ala|1014/3595|635/1104|212/367||;p3_1000G_AA=G|||;p3_1000G_AC=3585;p3_1000G_AF=0.715855;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=20075;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.7396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62728784;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2459,1947;ESP6500_AA_AGE=551.4+/-378.3;ESP6500_AA_GTC=708,1043,452;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=-0.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=6311,2289;ESP6500_EA_AGE=385.9+/-341.7;ESP6500_EA_GTC=2354,1603,343;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181712.4:missense;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62263112;ESP6500_GS=64;ESP6500_GTC=3062,2646,795;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2519T>C;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(V840A);ESP6500_MAF=26.6163,44.1897,32.5696;ESP6500_PH=benign:0.068;ESP6500_TAC=8770,4236	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1710,165,0
chr1	62263166	rs2258470	T	C	3568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.21;SOR=1.367;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2258470;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|KANK4|KANK4|transcript|NM_181712.4|protein_coding|7/10|c.2465A>G|p.His822Arg|2842/5477|2465/2988|822/995||,C|missense_variant|MODERATE|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|6/9|c.581A>G|p.His194Arg|960/3595|581/1104|194/367||;p3_1000G_AA=C|||;p3_1000G_AC=3587;p3_1000G_AF=0.716254;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=16992;p3_1000G_EAS_AF=0.8442;p3_1000G_EUR_AF=0.7396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62728838;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2462,1944;ESP6500_AA_AGE=551.8+/-378.4;ESP6500_AA_GTC=709,1044,450;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=3.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=74;ESP6500_EA_AC=6312,2288;ESP6500_EA_AGE=387.1+/-342.1;ESP6500_EA_GTC=2355,1602,343;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181712.4:missense;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62263166;ESP6500_GS=29;ESP6500_GTC=3064,2646,793;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2465A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(H822R);ESP6500_MAF=26.6047,44.1217,32.5388;ESP6500_PH=benign:0.0;ESP6500_TAC=8774,4232	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,82:82:99:1|1:62263166_T_C:3597,256,0
chr1	62263189	rs2260581	T	C	3482.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2260581;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|7/10|c.2442A>G|p.Lys814Lys|2819/5477|2442/2988|814/995||,C|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|6/9|c.558A>G|p.Lys186Lys|937/3595|558/1104|186/367||;p3_1000G_AA=C|||;p3_1000G_AC=3587;p3_1000G_AF=0.716254;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=17210;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.7396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62728861;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2462,1944;ESP6500_AA_AGE=552.3+/-378.5;ESP6500_AA_GTC=709,1044,450;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=75;ESP6500_EA_AC=6311,2289;ESP6500_EA_AGE=386.6+/-341.9;ESP6500_EA_GTC=2354,1603,343;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:coding-synonymous;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62263189;ESP6500_GTC=3063,2647,793;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2442A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(K814);ESP6500_MAF=26.6163,44.1217,32.5465;ESP6500_TAC=8773,4233	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,80:80:99:1|1:62263166_T_C:3511,244,0
chr1	62263246	rs2262110	G	A	2167.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.098;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2262110;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|7/10|c.2385C>T|p.Pro795Pro|2762/5477|2385/2988|795/995||,A|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|6/9|c.501C>T|p.Pro167Pro|880/3595|501/1104|167/367||;p3_1000G_AA=A|||;p3_1000G_AC=3586;p3_1000G_AF=0.716054;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=16756;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.7396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62728918;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2462,1944;ESP6500_AA_AGE=551.4+/-378.3;ESP6500_AA_GTC=709,1044,450;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=-0.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=6311,2289;ESP6500_EA_AGE=386.5+/-341.9;ESP6500_EA_GTC=2355,1601,344;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:coding-synonymous;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62263246;ESP6500_GTC=3064,2645,794;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2385C>T;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(P795);ESP6500_MAF=26.6163,44.1217,32.5465;ESP6500_TAC=8773,4233	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2196,204,0
chr1	62263343	rs2262106	G	A	1420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=2.409;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2262106;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_181712.4|protein_coding|6/9|c.2320-32C>T||||||,A|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|5/8|c.436-32C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3553;p3_1000G_AF=0.709465;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=19031;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.7396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62729015;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2354,2050;ESP6500_AA_GTC=649,1056,497;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=26;ESP6500_EA_AC=6315,2283;ESP6500_EA_GTC=2361,1593,345;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:intron;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62263343;ESP6500_GTC=3010,2649,842;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2320-32C>T;ESP6500_MAF=26.5527,46.5486,33.3256;ESP6500_TAC=8669,4333	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1449,132,0
chr1	62266749	rs11207949	T	C	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.642;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-0.727;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11207949;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|KANK4|KANK4|transcript|NM_181712.4|protein_coding|6/10|c.2302A>G|p.Thr768Ala|2679/5477|2302/2988|768/995||,C|missense_variant|MODERATE|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|5/9|c.418A>G|p.Thr140Ala|797/3595|418/1104|140/367||;p3_1000G_AA=T|||;p3_1000G_AC=1530;p3_1000G_AF=0.305511;p3_1000G_AFR_AF=0.2095;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=20974;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62732421;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=982,3424;ESP6500_AA_AGE=367.8+/-318.4;ESP6500_AA_GTC=110,762,1331;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=112;ESP6500_EA_AC=2106,6494;ESP6500_EA_AGE=363.6+/-333.2;ESP6500_EA_GTC=286,1534,2480;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181712.4:missense;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62266749;ESP6500_GS=58;ESP6500_GTC=396,2296,3811;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2302A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(T768A);ESP6500_MAF=24.4884,22.2878,23.7429;ESP6500_PH=benign:0.006;ESP6500_TAC=3088,9918	GT:AD:DP:GQ:PL	0/1:13,8:21:99:188,0,307
chr1	62268267	rs11207950	G	A	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.659;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.75;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11207950;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_181712.4|protein_coding|5/9|c.2231+20C>T||||||,A|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|4/8|c.347+20C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2338;p3_1000G_AF=0.466853;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=20963;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62733939;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2454,1952;ESP6500_AA_AGE=620.5+/-393.6;ESP6500_AA_GTC=687,1080,436;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=40;ESP6500_EA_AC=3508,5092;ESP6500_EA_AGE=508.7+/-377.1;ESP6500_EA_GTC=747,2014,1539;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:intron;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62268267;ESP6500_GTC=1434,3094,1975;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.2231+20C>T;ESP6500_MAF=40.7907,44.3032,45.8404;ESP6500_TAC=5962,7044	GT:AD:DP:GQ:PL	0/1:10,11:21:99:281,0,301
chr1	62271700	rs4609464	A	C	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.116;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.631;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4609464;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_181712.4|protein_coding|3/9|c.1901-111T>G||||||,C|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|2/8|c.17-111T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1975;p3_1000G_AF=0.394369;p3_1000G_AFR_AF=0.4168;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=22358;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.3847;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62737372;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:258,0,307
chr1	62273232	rs7516290	T	C	700.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7516290;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|3/10|c.1872A>G|p.Pro624Pro|2249/5477|1872/2988|624/995||,C|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|2/8|c.17-1643A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4009;p3_1000G_AF=0.800519;p3_1000G_AFR_AF=0.8782;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=14435;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.7018;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62738904;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3759,641;ESP6500_AA_GTC=1617,525,58;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=25;ESP6500_EA_AC=5789,2809;ESP6500_EA_GTC=2002,1785,512;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:coding-synonymous;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62273232;ESP6500_GTC=3619,2310,570;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.1872A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(P624);ESP6500_MAF=32.6704,14.5682,26.5425;ESP6500_TAC=9548,3450	GT:AD:DP:GQ:PL	1/1:0,21:21:63:729,63,0
chr1	62273526	rs17855078	G	A	804.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.267;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.124;SOR=0.638;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17855078;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|3/10|c.1578C>T|p.Ser526Ser|1955/5477|1578/2988|526/995||,A|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|2/8|c.17-1937C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1255;p3_1000G_AF=0.250599;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=20578;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.341;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62739198;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=828,3578;ESP6500_AA_AGE=328.0+/-300.3;ESP6500_AA_GTC=82,664,1457;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=55;ESP6500_EA_AC=2846,5754;ESP6500_EA_AGE=446.7+/-361.3;ESP6500_EA_GTC=496,1854,1950;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:coding-synonymous;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62273526;ESP6500_GTC=578,2518,3407;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.1578C>T;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(S526);ESP6500_MAF=33.093,18.7926,28.2485;ESP6500_TAC=3674,9332	GT:AD:DP:GQ:PL	0/1:33,34:67:99:833,0,779
chr1	62274393	rs12127930	A	G	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=3.502;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.873;SOR=1.154;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12127930;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|3/10|c.711T>C|p.Gly237Gly|1088/5477|711/2988|237/995||,G|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|2/8|c.17-2804T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2415;p3_1000G_AF=0.482228;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=19899;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.4394;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62740065;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2678,1728;ESP6500_AA_AGE=518.0+/-369.6;ESP6500_AA_GTC=803,1072,328;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=46;ESP6500_EA_AC=3673,4927;ESP6500_EA_AGE=622.1+/-397.3;ESP6500_EA_GTC=822,2029,1449;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:coding-synonymous;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62274393;ESP6500_GTC=1625,3101,1777;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.711T>C;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(G237);ESP6500_MAF=42.7093,39.2192,48.8313;ESP6500_TAC=6351,6655	GT:AD:DP:GQ:PL	0/1:47,23:70:99:542,0,1125
chr1	62274774	rs2666506	T	C	2122.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2666506;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|3/10|c.330A>G|p.Pro110Pro|707/5477|330/2988|110/995||,C|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|2/8|c.17-3185A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4029;p3_1000G_AF=0.804513;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=17023;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62740446;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3760,640;ESP6500_AA_AGE=256.4+/-261.2;ESP6500_AA_GTC=1607,546,47;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=5797,2801;ESP6500_EA_AGE=434.7+/-357.8;ESP6500_EA_GTC=1991,1815,493;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:coding-synonymous;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62274774;ESP6500_GTC=3598,2361,540;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.330A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(P110);ESP6500_MAF=32.5773,14.5455,26.4733;ESP6500_TAC=9557,3441	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,48:48:99:1|1:62274774_T_C:2151,147,0
chr1	62274777	rs2666507	T	C	2073.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=0.78;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2666507;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|KANK4|KANK4|transcript|NM_181712.4|protein_coding|3/10|c.327A>G|p.Ser109Ser|704/5477|327/2988|109/995||,C|intron_variant|MODIFIER|KANK4|KANK4|transcript|NM_001320269.1|protein_coding|2/8|c.17-3188A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3911;p3_1000G_AF=0.78095;p3_1000G_AFR_AF=0.798;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=16922;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62740449;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3401,999;ESP6500_AA_AGE=677.0+/-403.3;ESP6500_AA_GTC=1311,779,110;ESP6500_CDS_SIZES=NM_181712.4:2988;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=5790,2808;ESP6500_EA_AGE=659.9+/-401.7;ESP6500_EA_GTC=1991,1808,500;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181712.4:coding-synonymous;ESP6500_GL=KANK4;ESP6500_GRCh38_POSITION=1:62274777;ESP6500_GTC=3302,2587,610;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181712.4:c.327A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181712.4:p.(S109);ESP6500_MAF=32.6588,22.7045,29.2891;ESP6500_TAC=9191,3807	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:62274774_T_C:2102,141,0
chr1	62473963	rs1168007	C	T	231.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.75;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1168007;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|47/48|c.6179+19G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|47/48|c.6092+19G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|46/47|c.6086+19G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|47/48|c.6119+19G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4823;p3_1000G_AF=0.963059;p3_1000G_AFR_AF=0.8669;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=19087;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62939634;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3904,502;ESP6500_AA_AGE=225.6+/-241.4;ESP6500_AA_GTC=1735,434,34;ESP6500_CDS_SIZES=NM_033407.2:6330;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=38;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033407.2:intron;ESP6500_GL=DOCK7;ESP6500_GRCh38_POSITION=1:62473963;ESP6500_GTC=6032,437,34;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033407.2:c.6119+19G>A;ESP6500_MAF=0.0349,11.3936,3.8828;ESP6500_TAC=12501,505	GT:AD:DP:GQ:PL	1/1:0,9:9:27:260,27,0
chr1	62477593	rs1168008	C	T	358.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1168008;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|43/48|c.5601+107G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|43/48|c.5514+107G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|42/47|c.5508+107G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|43/48|c.5541+107G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4885;p3_1000G_AF=0.975439;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=17830;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62943264;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:387,33,0
chr1	62487512	rs1168025	C	T	230.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1168025;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|42/48|c.5466+1422G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|41/48|c.5374-100G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|41/47|c.5373+1422G>A||||||,T|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|41/48|c.5401-100G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4984;p3_1000G_AF=0.995208;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17528;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62953183;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:259,27,0
chr1	62496257	rs1168038	T	C	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1168038;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|38/48|c.4896+82A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|37/48|c.4803+82A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|37/47|c.4803+82A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|37/48|c.4830+82A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4910;p3_1000G_AF=0.980431;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16933;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62961928;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:465,36,0
chr1	62504513	rs1168027	T	C	178.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.31;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1168027;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|37/48|c.4737+117A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|36/48|c.4644+117A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|36/47|c.4644+117A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|36/48|c.4671+117A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2844;p3_1000G_AF=0.567891;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=17172;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.6958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62970184;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:207,15,0
chr1	62535449	rs1168018	A	C	492.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.8;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1168018;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|29/48|c.3611+44T>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|28/48|c.3518+44T>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|28/47|c.3518+44T>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|28/48|c.3518+44T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2880;p3_1000G_AF=0.57508;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=16355;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.6958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63001120;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1658,2748;ESP6500_AA_GTC=319,1020,864;ESP6500_CDS_SIZES=NM_033407.2:6330;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=52;ESP6500_EA_AC=5762,2838;ESP6500_EA_GTC=1971,1820,509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033407.2:intron;ESP6500_GL=DOCK7;ESP6500_GRCh38_POSITION=1:62535449;ESP6500_GTC=2290,2840,1373;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_033407.2:c.3518+44T>G;ESP6500_MAF=33.0,37.6305,42.9494;ESP6500_TAC=7420,5586	GT:AD:DP:GQ:PL	1/1:0,16:16:48:521,48,0
chr1	62558913	rs374596440	G	GT	64.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-0.921;SOR=0.048;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GT|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|20/48|c.2431+75dupA||||||,GT|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|20/48|c.2431+75dupA||||||,GT|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|20/47|c.2431+75dupA||||||,GT|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|20/48|c.2431+75dupA||||||	GT:AD:DP:GQ:PL	0/1:5,5:10:99:102,0,103
chr1	62561740	rs5774610	AG	A	446.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.81;SOR=1.445;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5774610;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|18/48|c.2113-38delC||||||,A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|18/48|c.2113-38delC||||||,A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|18/47|c.2113-38delC||||||,A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|18/48|c.2113-38delC||||||;p3_1000G_AA=G|G|-|deletion;p3_1000G_AC=4869;p3_1000G_AF=0.972244;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=13732;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63027411;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3911,353;ESP6500_AA_GTC=1800,311,21;ESP6500_CDS_SIZES=NM_033407.2:6330;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=39;ESP6500_EA_AC=8234,4;ESP6500_EA_GTC=4115,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033407.2:intron;ESP6500_GL=DOCK7;ESP6500_GRCh38_POSITION=1:62561740;ESP6500_GTC=5915,315,21;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_033407.2:c.2113-38del1;ESP6500_MAF=0.0486,8.2786,2.8555;ESP6500_TAC=12145,357	GT:AD:DP:GQ:PL	1/1:0,12:12:36:484,36,0
chr1	62647840	rs746735	C	A	457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs746735;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|6/48|c.733-64G>T||||||,A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|6/48|c.733-64G>T||||||,A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|6/47|c.733-64G>T||||||,A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|6/48|c.733-64G>T||||||,A|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272002.1|protein_coding|6/15|c.733-64G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2878;p3_1000G_AF=0.574681;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=16625;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.6948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63113511;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:486,45,0
chr1	62648018	rs1168088	T	C	191.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1168088;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|6/48|c.732+88A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|6/48|c.732+88A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|6/47|c.732+88A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|6/48|c.732+88A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272002.1|protein_coding|6/15|c.732+88A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4922;p3_1000G_AF=0.982827;p3_1000G_AFR_AF=0.938;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=15440;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63113689;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:220,21,0
chr1	62648048	rs1168089	T	C	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1168089;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|6/48|c.732+58A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|6/48|c.732+58A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|6/47|c.732+58A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|6/48|c.732+58A>G||||||,C|intron_variant|MODIFIER|DOCK7|DOCK7|transcript|NM_001272002.1|protein_coding|6/15|c.732+58A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2864;p3_1000G_AF=0.571885;p3_1000G_AFR_AF=0.3359;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=15019;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.6948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63113719;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:513,45,0
chr1	62648297	rs61743961;447277	T	C	1005.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61743961;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|DOCK7|DOCK7|transcript|NM_001271999.1|protein_coding|6/49|c.541A>G|p.Met181Val|645/7182|541/6390|181/2129||,C|missense_variant|MODERATE|DOCK7|DOCK7|transcript|NM_001272000.1|protein_coding|6/49|c.541A>G|p.Met181Val|645/7095|541/6303|181/2100||,C|missense_variant|MODERATE|DOCK7|DOCK7|transcript|NM_001272001.1|protein_coding|6/48|c.541A>G|p.Met181Val|645/7089|541/6297|181/2098||,C|missense_variant|MODERATE|DOCK7|DOCK7|transcript|NM_033407.3|protein_coding|6/49|c.541A>G|p.Met181Val|645/7122|541/6330|181/2109||,C|missense_variant|MODERATE|DOCK7|DOCK7|transcript|NM_001272002.1|protein_coding|6/16|c.541A>G|p.Met181Val|645/2678|541/1899|181/632||;p3_1000G_AA=T|||;p3_1000G_AC=305;p3_1000G_AF=0.0609026;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=13493;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63113968;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=484,3898;ESP6500_AA_AGE=203.8+/-226.2;ESP6500_AA_GTC=32,420,1739;ESP6500_CDS_SIZES=NM_033407.2:6330;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=53;ESP6500_EA_AC=8,8586;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=0,8,4289;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033407.2:missense;ESP6500_GL=DOCK7;ESP6500_GRCh38_POSITION=1:62648297;ESP6500_GS=21;ESP6500_GTC=32,428,6028;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033407.2:c.541A>G;ESP6500_HGVS_PROTEIN_VAR=NM_033407.2:p.(M181V);ESP6500_MAF=0.0931,11.0452,3.7916;ESP6500_PH=benign:0.001;ESP6500_TAC=492,12484;CLINVAR_ALLELEID=440520;CLINVAR_CLNDISDB=MedGen:C4014492,OMIM:615859,Orphanet:ORPHA411986|MedGen:CN169374;CLINVAR_CLNDN=Epileptic_encephalopathy,_early_infantile,_23|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.62648297T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DOCK7:85440;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=61743961	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1034,84,0
chr1	62841632	rs3737892	A	G	49.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737892;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ATG4C|ATG4C|transcript|NM_032852.3|protein_coding|10/10|c.1209+85A>G||||||,G|intron_variant|MODIFIER|ATG4C|ATG4C|transcript|NM_178221.2|protein_coding|10/10|c.1209+85A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2458;p3_1000G_AF=0.490815;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=13495;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63307303;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:77,6,0
chr1	63323011	rs72912791	C	T	419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72912791;dbSNPBuildID=130;ANN=T|upstream_gene_variant|MODIFIER|FOXD3-AS1|FOXD3-AS1|transcript|NR_121634.1|pseudogene||n.-553G>A|||||553|,T|upstream_gene_variant|MODIFIER|FOXD3|FOXD3|transcript|NM_012183.2|protein_coding||c.-48C>T|||||48|,T|upstream_gene_variant|MODIFIER|FOXD3-AS1|FOXD3-AS1|transcript|NR_121635.1|pseudogene||n.-553G>A|||||553|,T|downstream_gene_variant|MODIFIER|MIR6068|MIR6068|transcript|NR_106716.1|pseudogene||n.*3914G>A|||||3914|,T|intron_variant|MODIFIER|FOXD3-AS1|FOXD3-AS1|transcript|NR_121636.1|pseudogene|1/2|n.185+480G>A||||||,T|intron_variant|MODIFIER|FOXD3-AS1|FOXD3-AS1|transcript|NR_121637.1|pseudogene|1/2|n.87+1344G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=359;p3_1000G_AF=0.0716853;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=9051;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63788682;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=67,2777;ESP6500_AA_GTC=0,67,1355;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=2;ESP6500_EA_AC=28,5924;ESP6500_EA_GTC=0,28,2948;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:63323011;ESP6500_GTC=0,95,4303;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=0.4704,2.3558,1.08;ESP6500_TAC=95,8701	GT:AD:DP:GQ:PL	1/1:0,14:14:42:448,42,0
chr1	63323344	rs2274188	G	T	460.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274188;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|FOXD3|FOXD3|transcript|NM_012183.2|protein_coding|1/1|c.286G>T|p.Val96Leu|286/2068|286/1437|96/478||,T|upstream_gene_variant|MODIFIER|FOXD3-AS1|FOXD3-AS1|transcript|NR_121634.1|pseudogene||n.-886C>A|||||886|,T|upstream_gene_variant|MODIFIER|FOXD3-AS1|FOXD3-AS1|transcript|NR_121635.1|pseudogene||n.-886C>A|||||886|,T|downstream_gene_variant|MODIFIER|MIR6068|MIR6068|transcript|NR_106716.1|pseudogene||n.*3581C>A|||||3581|,T|intron_variant|MODIFIER|FOXD3-AS1|FOXD3-AS1|transcript|NR_121636.1|pseudogene|1/2|n.185+147C>A||||||,T|intron_variant|MODIFIER|FOXD3-AS1|FOXD3-AS1|transcript|NR_121637.1|pseudogene|1/2|n.87+1011C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=359;p3_1000G_AF=0.0716853;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=7614;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63789015;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=46,1574;ESP6500_AA_GTC=0,46,764;ESP6500_CDS_SIZES=NM_012183.2:1437;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=2;ESP6500_EA_AC=15,3585;ESP6500_EA_GTC=0,15,1785;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012183.2:missense;ESP6500_GL=FOXD3;ESP6500_GRCh38_POSITION=1:63323344;ESP6500_GS=32;ESP6500_GTC=0,61,2549;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_012183.2:c.286G>T;ESP6500_HGVS_PROTEIN_VAR=NM_012183.2:p.(V96L);ESP6500_MAF=0.4167,2.8395,1.1686;ESP6500_PH=benign:0.002;ESP6500_TAC=61,5159	GT:AD:DP:GQ:PL	1/1:0,14:14:42:489,42,0
chr1	63406929	rs12755065	T	C	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=5.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12755065;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ALG6|ALG6|transcript|NM_013339.3|protein_coding|6/14|c.430-133T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=910;p3_1000G_AF=0.181709;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=17034;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.1471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63872600;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:465,36,0
chr1	63406977	.	A	G	675.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.021;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=4.047;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=-0.361;SOR=0.223;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|ALG6|ALG6|transcript|NM_013339.3|protein_coding|6/14|c.430-85A>G||||||	GT:AD:DP:GQ:PL	0/1:9,24:33:99:704,0,232
chr1	63407200	rs6588028	A	G	1173.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6588028;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ALG6|ALG6|transcript|NM_013339.3|protein_coding|7/14|c.494+74A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=18192;p3_1000G_EAS_AF=0.6687;p3_1000G_EUR_AF=0.4742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63872871;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1202,102,0
chr1	63415881	rs4630153;95531	C	T	988.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.47;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4630153;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|ALG6|ALG6|transcript|NM_013339.3|protein_coding|11/15|c.911C>T|p.Ser304Phe|1216/3371|911/1524|304/507||;p3_1000G_AA=T|||;p3_1000G_AC=4159;p3_1000G_AF=0.830471;p3_1000G_AFR_AF=0.9032;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=14305;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.6859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63881552;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3769,635;ESP6500_AA_AGE=260.1+/-263.5;ESP6500_AA_GTC=1615,539,48;ESP6500_CDS_SIZES=NM_013339.3:1524;ESP6500_CG=3.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=59;ESP6500_EA_AC=5809,2783;ESP6500_EA_AGE=431.3+/-356.8;ESP6500_EA_GTC=1991,1827,478;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_013339.3:missense;ESP6500_GL=ALG6;ESP6500_GRCh38_POSITION=1:63415881;ESP6500_GS=155;ESP6500_GTC=3606,2366,526;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_013339.3:c.911C>T;ESP6500_HGVS_PROTEIN_VAR=NM_013339.3:p.(S304F);ESP6500_MAF=32.3906,14.4187,26.3004;ESP6500_PH=benign:0.0;ESP6500_TAC=9578,3418;CLINVAR_ALLELEID=101430;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:CN169374;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.63415881C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1553;CLINVAR_GENEINFO=ALG6:29929;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4630153	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1017,108,0
chr1	63441209	rs2036867	C	A	122.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2036867;dbSNPBuildID=94;ANN=A|downstream_gene_variant|MODIFIER|ALG6|ALG6|transcript|NM_013339.3|protein_coding||c.*4189C>A|||||2647|,A|intron_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_001206739.1|protein_coding|9/9|c.*2-106G>T||||||,A|intron_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_014288.4|protein_coding|8/8|c.*2-106G>T||||||,A|intron_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NR_045147.1|pseudogene|9/9|n.726-106G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1123;p3_1000G_AF=0.224241;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=19977;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.1441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63906880;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:150,12,0
chr1	63446875	rs12760364	G	T	581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.29;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12760364;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_001206739.1|protein_coding|8/9|c.602-19C>A||||||,T|intron_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_014288.4|protein_coding|7/8|c.485-19C>A||||||,T|intron_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NR_045147.1|pseudogene|8/9|n.675-19C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=912;p3_1000G_AF=0.182109;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=19620;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.1372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63912546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=677,3729;ESP6500_AA_GTC=120,437,1646;ESP6500_CDS_SIZES=NM_014288.4:534,NM_001206739.1:651;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=55;ESP6500_EA_AC=1060,7536;ESP6500_EA_GTC=92,876,3330;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014288.4:intron,NM_001206739.1:intron;ESP6500_GL=ITGB3BP;ESP6500_GRCh38_POSITION=1:63446875;ESP6500_GTC=212,1313,4976;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_014288.4:c.485-19C>A,NM_001206739.1:c.602-19C>A;ESP6500_MAF=12.3313,15.3654,13.3595;ESP6500_TAC=1737,11265	GT:AD:DP:GQ:PL	1/1:0,23:23:69:610,69,0
chr1	63510159	rs6588047	T	C	200.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6588047;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|ITGB3BP|ITGB3BP|transcript|NM_001206739.1|protein_coding|2/10|c.28A>G|p.Arg10Gly|168/1126|28/651|10/216||,C|intron_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_014288.4|protein_coding|1/8|c.6-1589A>G||||||,C|intron_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NR_045147.1|pseudogene|1/9|n.146-1589A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4747;p3_1000G_AF=0.947883;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16458;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63975830;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:229,21,0
chr1	63525469	rs9436686	T	C	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.15;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9436686;dbSNPBuildID=119;ANN=C|upstream_gene_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_001206739.1|protein_coding||c.-2336A>G|||||2196|,C|upstream_gene_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_014288.4|protein_coding||c.-2336A>G|||||2196|,C|upstream_gene_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NR_045147.1|pseudogene||n.-2196A>G|||||2196|,C|intron_variant|MODIFIER|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|1/13|c.-1-103T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4694;p3_1000G_AF=0.9373;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=14810;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63991140;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:535,42,0
chr1	63525819	rs35446626	G	A	168.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.14;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35446626;dbSNPBuildID=126;ANN=A|upstream_gene_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_001206739.1|protein_coding||c.-2686C>T|||||2546|,A|upstream_gene_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NM_014288.4|protein_coding||c.-2686C>T|||||2546|,A|upstream_gene_variant|MODIFIER|ITGB3BP|ITGB3BP|transcript|NR_045147.1|pseudogene||n.-2546C>T|||||2546|,A|intron_variant|MODIFIER|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|2/13|c.187+60G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=700;p3_1000G_AF=0.139776;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=16294;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.1441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63991490;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:197,18,0
chr1	63531962	rs9804078	A	T	1828.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31;SOR=1.217;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9804078;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|3/14|c.330A>T|p.Ser110Ser|665/2402|330/1890|110/629||;p3_1000G_AA=A|||;p3_1000G_AC=983;p3_1000G_AF=0.196286;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=17546;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63997633;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=997,3409;ESP6500_AA_AGE=346.2+/-308.9;ESP6500_AA_GTC=114,769,1320;ESP6500_CDS_SIZES=NM_032437.2:1890;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=49;ESP6500_EA_AC=1324,7266;ESP6500_EA_AGE=252.8+/-278.7;ESP6500_EA_GTC=92,1140,3063;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032437.2:coding-synonymous;ESP6500_GL=EFCAB7;ESP6500_GRCh38_POSITION=1:63531962;ESP6500_GTC=206,1909,4383;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_032437.2:c.330A>T;ESP6500_HGVS_PROTEIN_VAR=NM_032437.2:p.(S110);ESP6500_MAF=15.4133,22.6282,17.8593;ESP6500_TAC=2321,10675	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1857,177,0
chr1	63534155	rs6693255	C	T	807.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.85;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6693255;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|6/14|c.743C>T|p.Thr248Ile|1078/2402|743/1890|248/629||;p3_1000G_AA=C|||;p3_1000G_AC=726;p3_1000G_AF=0.144968;p3_1000G_AFR_AF=0.0855;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=15556;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63999826;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=393,4013;ESP6500_AA_AGE=195.0+/-219.7;ESP6500_AA_GTC=13,367,1823;ESP6500_CDS_SIZES=NM_032437.2:1890;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=98;ESP6500_EA_AC=1325,7275;ESP6500_EA_AGE=260.5+/-283.3;ESP6500_EA_GTC=92,1141,3067;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032437.2:missense;ESP6500_GL=EFCAB7;ESP6500_GRCh38_POSITION=1:63534155;ESP6500_GS=89;ESP6500_GTC=105,1508,4890;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032437.2:c.743C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032437.2:p.(T248I);ESP6500_MAF=15.407,8.9197,13.2093;ESP6500_PH=benign:0.294;ESP6500_TAC=1718,11288	GT:AD:DP:GQ:PL	1/1:0,28:28:84:836,84,0
chr1	63534197	rs6657480	T	C	549.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.94;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6657480;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|6/14|c.785T>C|p.Met262Thr|1120/2402|785/1890|262/629||;p3_1000G_AA=C|||;p3_1000G_AC=1440;p3_1000G_AF=0.28754;p3_1000G_AFR_AF=0.5825;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=15429;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.1491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63999868;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2103,2303;ESP6500_AA_AGE=597.0+/-388.8;ESP6500_AA_GTC=514,1075,614;ESP6500_CDS_SIZES=NM_032437.2:1890;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=1344,7256;ESP6500_EA_AGE=754.1+/-407.5;ESP6500_EA_GTC=94,1156,3050;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032437.2:missense;ESP6500_GL=EFCAB7;ESP6500_GRCh38_POSITION=1:63534197;ESP6500_GS=81;ESP6500_GTC=608,2231,3664;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032437.2:c.785T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032437.2:p.(M262T);ESP6500_MAF=15.6279,47.7304,26.5032;ESP6500_PH=benign:0.0;ESP6500_TAC=3447,9559	GT:AD:DP:GQ:PL	1/1:0,19:19:57:578,57,0
chr1	63534220	rs6657559	T	C	460.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6657559;dbSNPBuildID=116;ANN=C|splice_region_variant&intron_variant|LOW|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|6/13|c.804+4T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=696;p3_1000G_AF=0.138978;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=15417;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63999891;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=336,4068;ESP6500_AA_AGE=164.4+/-196.0;ESP6500_AA_GTC=8,320,1874;ESP6500_CDS_SIZES=NM_032437.2:1890;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=1321,7277;ESP6500_EA_AGE=254.6+/-279.8;ESP6500_EA_GTC=92,1137,3070;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032437.2:intron;ESP6500_GL=EFCAB7;ESP6500_GRCh38_POSITION=1:63534220;ESP6500_GTC=100,1457,4944;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032437.2:c.804+4T>C;ESP6500_MAF=15.364,7.6294,12.7442;ESP6500_TAC=1657,11345	GT:AD:DP:GQ:PL	1/1:0,13:13:39:489,39,0
chr1	63555425	rs2273367	G	A	729.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.06;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273367;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|9/14|c.1124G>A|p.Arg375Lys|1459/2402|1124/1890|375/629||,A|downstream_gene_variant|MODIFIER|DLEU2L|DLEU2L|transcript|NR_002771.1|pseudogene||n.*4789G>A|||||4789|;p3_1000G_AA=G|||;p3_1000G_AC=701;p3_1000G_AF=0.139976;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=15942;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64021096;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=348,4058;ESP6500_AA_AGE=179.7+/-208.2;ESP6500_AA_GTC=8,332,1863;ESP6500_CDS_SIZES=NM_032437.2:1890;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=139;ESP6500_EA_AC=1326,7274;ESP6500_EA_AGE=260.9+/-283.5;ESP6500_EA_GTC=93,1140,3067;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032437.2:missense;ESP6500_GL=EFCAB7;ESP6500_GRCh38_POSITION=1:63555425;ESP6500_GS=26;ESP6500_GTC=101,1472,4930;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032437.2:c.1124G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032437.2:p.(R375K);ESP6500_MAF=15.4186,7.8983,12.871;ESP6500_PH=benign:0.001;ESP6500_TAC=1674,11332	GT:AD:DP:GQ:PL	1/1:0,28:28:84:758,84,0
chr1	63557037	rs35668099;rs370519043	C	CA	55.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.345;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=-1.15;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35668099;dbSNPBuildID=138,126;ANN=CA|intron_variant|MODIFIER|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|9/13|c.1215-61dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,5:8:35:93,0,35
chr1	63571167	rs4915903	G	A	566.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.76;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4915903;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|13/13|c.1815+39G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=729;p3_1000G_AF=0.145567;p3_1000G_AFR_AF=0.0855;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=15761;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.1441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64036838;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=390,4016;ESP6500_AA_AGE=181.5+/-209.5;ESP6500_AA_GTC=13,364,1826;ESP6500_CDS_SIZES=NM_032437.2:1890;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=36;ESP6500_EA_AC=1315,7269;ESP6500_EA_AGE=249.6+/-276.8;ESP6500_EA_GTC=91,1133,3068;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032437.2:intron;ESP6500_GL=EFCAB7;ESP6500_GRCh38_POSITION=1:63571167;ESP6500_GTC=104,1497,4894;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032437.2:c.1815+39G>A;ESP6500_MAF=15.3192,8.8516,13.1255;ESP6500_TAC=1705,11285	GT:AD:DP:GQ:PL	1/1:0,22:22:66:595,66,0
chr1	63572436	rs6588050	G	T	347.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6588050;dbSNPBuildID=116;ANN=T|splice_region_variant&intron_variant|LOW|EFCAB7|EFCAB7|transcript|NM_032437.3|protein_coding|13/13|c.1816-6G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=985;p3_1000G_AF=0.196685;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=15349;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64038107;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=971,3421;ESP6500_AA_GTC=111,749,1336;ESP6500_CDS_SIZES=NM_032437.2:1890;ESP6500_CG=-3.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=39;ESP6500_EA_AC=1296,7272;ESP6500_EA_GTC=88,1120,3076;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032437.2:intron;ESP6500_GL=EFCAB7;ESP6500_GRCh38_POSITION=1:63572436;ESP6500_GTC=199,1869,4412;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_032437.2:c.1816-6G>T;ESP6500_MAF=15.1261,22.1084,17.4923;ESP6500_TAC=2267,10693	GT:AD:DP:GQ:PL	1/1:0,11:11:33:376,33,0
chr1	63629371	rs855313	G	T	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.389;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs855313;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172818.1|protein_coding|1/10|c.301-54G>T||||||,T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_002633.2|protein_coding|1/10|c.247-54G>T||||||,T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|1/10|c.-345-54G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=453;p3_1000G_AF=0.0904553;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=18415;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64095042;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:172,0,126
chr1	63629440	rs855314;297871	A	G	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.344;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs855314;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|PGM1|PGM1|transcript|NM_001172818.1|protein_coding|2/11|c.316A>G|p.Ile106Val|561/2559|316/1743|106/580||,G|missense_variant|MODERATE|PGM1|PGM1|transcript|NM_002633.2|protein_coding|2/11|c.262A>G|p.Ile88Val|475/2473|262/1689|88/562||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|2/11|c.-330A>G||||||,G|5_prime_UTR_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|2/11|c.-330A>G|||||2252|;p3_1000G_AA=A|||;p3_1000G_AC=650;p3_1000G_AF=0.129792;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=16170;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0.1431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64095111;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1057,3349;ESP6500_AA_AGE=385.6+/-325.8;ESP6500_AA_GTC=134,789,1280;ESP6500_CDS_SIZES=NM_002633.2:1689,NM_001172819.1:1098,NM_001172818.1:1743;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=144;ESP6500_EA_AC=1212,7388;ESP6500_EA_AGE=244.0+/-273.4;ESP6500_EA_GTC=85,1042,3173;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002633.2:missense,NM_001172819.1:utr-5,NM_001172818.1:missense;ESP6500_GL=PGM1;ESP6500_GRCh38_POSITION=1:63629440;ESP6500_GS=29,.,29;ESP6500_GTC=219,1831,4453;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002633.2:c.262A>G,NM_001172819.1:c.-2252A>G,NM_001172818.1:c.316A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002633.2:p.(I88V),.,NM_001172818.1:p.(I106V);ESP6500_MAF=14.093,23.99,17.4458;ESP6500_PH=benign:0.107,.,benign:0.107;ESP6500_TAC=2269,10737;CLINVAR_AF_ESP=0.1745;CLINVAR_AF_EXAC=0.13043;CLINVAR_AF_TGP=0.1298;CLINVAR_ALLELEID=282807;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646|MedGen:CN169374;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|Congenital_disorder_of_glycosylation_type_1t|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.63629440A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47330|UniProtKB_(protein):P36871#VAR_050496;CLINVAR_GENEINFO=PGM1:5236;CLINVAR_MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=855314	GT:AD:DP:GQ:PL	0/1:7,7:14:99:222,0,167
chr1	63631761	rs1126728;297874	C	T	1247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.315;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.904;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1126728;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|PGM1|PGM1|transcript|NM_001172818.1|protein_coding|4/11|c.715C>T|p.Arg239Cys|960/2559|715/1743|239/580||,T|missense_variant|MODERATE|PGM1|PGM1|transcript|NM_002633.2|protein_coding|4/11|c.661C>T|p.Arg221Cys|874/2473|661/1689|221/562||,T|missense_variant|MODERATE|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|4/11|c.70C>T|p.Arg24Cys|751/2350|70/1098|24/365||;p3_1000G_AA=C|||;p3_1000G_AC=1209;p3_1000G_AF=0.241414;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=19639;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64097432;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=886,3520;ESP6500_AA_AGE=344.4+/-308.1;ESP6500_AA_GTC=92,702,1409;ESP6500_CDS_SIZES=NM_002633.2:1689,NM_001172819.1:1098,NM_001172818.1:1743;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=180;ESP6500_EA_AC=2016,6584;ESP6500_EA_AGE=352.6+/-328.8;ESP6500_EA_GTC=238,1540,2522;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002633.2:missense,NM_001172819.1:missense,NM_001172818.1:missense;ESP6500_GL=PGM1;ESP6500_GRCh38_POSITION=1:63631761;ESP6500_GS=180,180,180;ESP6500_GTC=330,2242,3931;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002633.2:c.661C>T,NM_001172819.1:c.70C>T,NM_001172818.1:c.715C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002633.2:p.(R221C),NM_001172819.1:p.(R24C),NM_001172818.1:p.(R239C);ESP6500_MAF=23.4419,20.1089,22.3128;ESP6500_PH=possibly-damaging:0.679,possibly-damaging:0.679,possibly-damaging:0.679;ESP6500_TAC=2902,10104;CLINVAR_AF_ESP=0.2231;CLINVAR_AF_EXAC=0.24280;CLINVAR_AF_TGP=0.2414;CLINVAR_ALLELEID=283126;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646|MedGen:CN169374;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|Congenital_disorder_of_glycosylation_type_1t|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.63631761C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47263|UniProtKB_(protein):P36871#VAR_006091;CLINVAR_GENEINFO=PGM1:5236;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1126728	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1276,0,1295
chr1	63634807	rs6588052	A	T	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.456;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.883;SOR=0.157;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6588052;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172818.1|protein_coding|4/10|c.737-22A>T||||||,T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_002633.2|protein_coding|4/10|c.683-22A>T||||||,T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|4/10|c.92-22A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=16008;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.3897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64100478;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2388,2018;ESP6500_AA_AGE=524.6+/-371.4;ESP6500_AA_GTC=697,994,512;ESP6500_CDS_SIZES=NM_002633.2:1689,NM_001172819.1:1098,NM_001172818.1:1743;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=59;ESP6500_EA_AC=3120,5480;ESP6500_EA_AGE=654.1+/-401.1;ESP6500_EA_GTC=555,2010,1735;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002633.2:intron,NM_001172819.1:intron,NM_001172818.1:intron;ESP6500_GL=PGM1;ESP6500_GRCh38_POSITION=1:63634807;ESP6500_GTC=1252,3004,2247;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002633.2:c.683-22A>T,NM_001172819.1:c.92-22A>T,NM_001172818.1:c.737-22A>T;ESP6500_MAF=36.2791,45.8012,42.3497;ESP6500_TAC=5508,7498	GT:AD:DP:GQ:PL	0/1:9,18:27:99:484,0,243
chr1	63636443	rs2269248	A	G	587.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.58;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=1.96;SOR=0.435;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2269248;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172818.1|protein_coding|6/10|c.1082+55A>G||||||,G|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_002633.2|protein_coding|6/10|c.1028+55A>G||||||,G|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|6/10|c.437+55A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=19828;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64102114;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,19:33:99:616,0,374
chr1	63659563	rs11208265	G	T	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.089;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.092;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.154;SOR=0.459;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11208265;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172818.1|protein_coding|10/10|c.1654-23G>T||||||,T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_002633.2|protein_coding|10/10|c.1600-23G>T||||||,T|intron_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|10/10|c.1009-23G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1603;p3_1000G_AF=0.320088;p3_1000G_AFR_AF=0.4357;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=20452;p3_1000G_EAS_AF=0.2857;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64125234;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1652,2754;ESP6500_AA_AGE=507.6+/-366.7;ESP6500_AA_GTC=305,1042,856;ESP6500_CDS_SIZES=NM_002633.2:1689,NM_001172819.1:1098,NM_001172818.1:1743;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=120;ESP6500_EA_AC=1944,6656;ESP6500_EA_AGE=342.6+/-324.5;ESP6500_EA_GTC=205,1534,2561;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002633.2:intron,NM_001172819.1:intron,NM_001172818.1:intron;ESP6500_GL=PGM1;ESP6500_GRCh38_POSITION=1:63659563;ESP6500_GTC=510,2576,3417;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002633.2:c.1600-23G>T,NM_001172819.1:c.1009-23G>T,NM_001172818.1:c.1654-23G>T;ESP6500_MAF=22.6047,37.4943,27.6488;ESP6500_TAC=3596,9410	GT:AD:DP:GQ:PL	0/1:32,21:53:99:532,0,848
chr1	63659697	rs8294;297894	C	T	414.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.057;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.62;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8294;dbSNPBuildID=52;ANN=T|3_prime_UTR_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172818.1|protein_coding|11/11|c.*22C>T|||||22|,T|3_prime_UTR_variant|MODIFIER|PGM1|PGM1|transcript|NM_002633.2|protein_coding|11/11|c.*22C>T|||||22|,T|3_prime_UTR_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|11/11|c.*22C>T|||||22|;p3_1000G_AA=C|||;p3_1000G_AC=924;p3_1000G_AF=0.184505;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=20057;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64125368;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=384,4022;ESP6500_AA_AGE=194.7+/-219.5;ESP6500_AA_GTC=14,356,1833;ESP6500_CDS_SIZES=NM_002633.2:1689,NM_001172819.1:1098,NM_001172818.1:1743;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=96;ESP6500_EA_AC=1566,7034;ESP6500_EA_AGE=293.5+/-301.4;ESP6500_EA_GTC=135,1296,2869;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002633.2:utr-3,NM_001172819.1:utr-3,NM_001172818.1:utr-3;ESP6500_GL=PGM1;ESP6500_GRCh38_POSITION=1:63659697;ESP6500_GTC=149,1652,4702;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002633.2:c.*22C>T,NM_001172819.1:c.*22C>T,NM_001172818.1:c.*22C>T;ESP6500_MAF=18.2093,8.7154,14.9931;ESP6500_TAC=1950,11056;CLINVAR_AF_ESP=0.1499;CLINVAR_AF_EXAC=0.19889;CLINVAR_AF_TGP=0.1845;CLINVAR_ALLELEID=281634;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|Congenital_disorder_of_glycosylation_type_1t;CLINVAR_CLNHGVS=NC_000001.11:g.63659697C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1692;CLINVAR_GENEINFO=PGM1:5236;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=8294	GT:AD:DP:GQ:PL	0/1:21,19:40:99:443,0,569
chr1	63659768	rs4643;297897	A	C	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.05;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.258;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4643;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172818.1|protein_coding|11/11|c.*93A>C|||||93|,C|3_prime_UTR_variant|MODIFIER|PGM1|PGM1|transcript|NM_002633.2|protein_coding|11/11|c.*93A>C|||||93|,C|3_prime_UTR_variant|MODIFIER|PGM1|PGM1|transcript|NM_001172819.1|protein_coding|11/11|c.*93A>C|||||93|;p3_1000G_AA=A|||;p3_1000G_AC=925;p3_1000G_AF=0.184704;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=22447;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64125439;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1847;CLINVAR_ALLELEID=281638;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:C2752015,OMIM:614921,Orphanet:ORPHA319646;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|Congenital_disorder_of_glycosylation_type_1t;CLINVAR_CLNHGVS=NC_000001.11:g.63659768A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1706;CLINVAR_GENEINFO=PGM1:5236;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4643	GT:AD:DP:GQ:PL	0/1:11,10:21:99:278,0,375
chr1	64049707	rs1772626	C	T	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.552;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=8.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.56;ReadPosRankSum=-0.196;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1772626;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|ROR1|ROR1|transcript|NM_005012.3|protein_coding|3/9|c.180C>T|p.Leu60Leu|579/5854|180/2814|60/937||,T|synonymous_variant|LOW|ROR1|ROR1|transcript|NM_001083592.1|protein_coding|3/7|c.180C>T|p.Leu60Leu|579/2292|180/1182|60/393||;p3_1000G_AA=T|||;p3_1000G_AC=3900;p3_1000G_AF=0.778754;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=19308;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64515379;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2784,1622;ESP6500_AA_AGE=499.5+/-364.4;ESP6500_AA_GTC=874,1036,293;ESP6500_CDS_SIZES=NM_005012.3:2814,NM_001083592.1:1182;ESP6500_CG=-11.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=128;ESP6500_EA_AC=7358,1242;ESP6500_EA_AGE=249.2+/-276.5;ESP6500_EA_GTC=3149,1060,91;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005012.3:coding-synonymous,NM_001083592.1:coding-synonymous;ESP6500_GL=ROR1;ESP6500_GRCh38_POSITION=1:64049707;ESP6500_GTC=4023,2096,384;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005012.3:c.180C>T,NM_001083592.1:c.180C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005012.3:p.(L60),NM_001083592.1:p.(L60);ESP6500_MAF=14.4419,36.8134,22.0206;ESP6500_TAC=10142,2864	GT:AD:DP:GQ:PL	0/1:13,8:21:99:187,0,479
chr1	64142646	rs2762833	G	T	2678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=2.245;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2762833;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ROR1|ROR1|transcript|NM_005012.3|protein_coding|7/9|c.1170G>T|p.Ala390Ala|1569/5854|1170/2814|390/937||,T|synonymous_variant|LOW|ROR1|ROR1|transcript|NM_001083592.1|protein_coding|7/7|c.1170G>T|p.Ala390Ala|1569/2292|1170/1182|390/393||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18951;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64608329;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2707,240,0
chr1	64158929	rs4362024	G	A	372.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4362024;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ROR1|ROR1|transcript|NM_005012.3|protein_coding|7/8|c.1175-52G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4811;p3_1000G_AF=0.960663;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=18522;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64624612;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1540,212;ESP6500_AA_GTC=679,182,15;ESP6500_CDS_SIZES=NM_005012.3:2814;ESP6500_CG=-0.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=30;ESP6500_EA_AC=3981,1;ESP6500_EA_GTC=1990,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005012.3:intron;ESP6500_GL=ROR1;ESP6500_GRCh38_POSITION=1:64158929;ESP6500_GTC=2669,183,15;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005012.3:c.1175-52G>A;ESP6500_MAF=0.0251,12.1005,3.7147;ESP6500_TAC=5521,213	GT:AD:DP:GQ:PL	1/1:0,11:11:33:401,33,0
chr1	64159159	rs6668545	A	G	2326.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.34;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6668545;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|ROR1|ROR1|transcript|NM_005012.3|protein_coding|8/9|c.1353A>G|p.Val451Val|1752/5854|1353/2814|451/937||;p3_1000G_AA=A|||;p3_1000G_AC=1732;p3_1000G_AF=0.345847;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=20829;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.3966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64624842;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1002,3404;ESP6500_AA_AGE=373.4+/-320.8;ESP6500_AA_GTC=115,772,1316;ESP6500_CDS_SIZES=NM_005012.3:2814;ESP6500_CG=-10.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=165;ESP6500_EA_AC=3162,5438;ESP6500_EA_AGE=479.3+/-370.1;ESP6500_EA_GTC=594,1974,1732;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005012.3:coding-synonymous;ESP6500_GL=ROR1;ESP6500_GRCh38_POSITION=1:64159159;ESP6500_GTC=709,2746,3048;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005012.3:c.1353A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005012.3:p.(V451);ESP6500_MAF=36.7674,22.7417,32.016;ESP6500_TAC=4164,8842	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2355,219,0
chr1	64177594	rs7527017	C	T	901.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.464;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.409;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7527017;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|ROR1|ROR1|transcript|NM_005012.3|protein_coding|9/9|c.1553C>T|p.Thr518Met|1952/5854|1553/2814|518/937||;p3_1000G_AA=C|||;p3_1000G_AC=1218;p3_1000G_AF=0.243211;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=18991;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.3549;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64643277;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=346,4060;ESP6500_AA_AGE=180.1+/-208.5;ESP6500_AA_GTC=20,306,1877;ESP6500_CDS_SIZES=NM_005012.3:2814;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=245;ESP6500_EA_AC=2857,5743;ESP6500_EA_AGE=449.8+/-362.2;ESP6500_EA_GTC=483,1891,1926;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005012.3:missense;ESP6500_GL=ROR1;ESP6500_GRCh38_POSITION=1:64177594;ESP6500_GS=81;ESP6500_GTC=503,2197,3803;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005012.3:c.1553C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005012.3:p.(T518M);ESP6500_MAF=33.2209,7.8529,24.6271;ESP6500_PH=possibly-damaging:0.788;ESP6500_TAC=3203,9803	GT:AD:DP:GQ:PL	0/1:45,40:85:99:930,0,1116
chr1	64214999	rs825174	C	G	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=0.431;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs825174;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|UBE2U|UBE2U|transcript|NM_152489.1|protein_coding|5/8|c.457+67C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3740;p3_1000G_AF=0.746805;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=17519;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.5915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64680682;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:99:102,0,197
chr1	64232728	rs2029868	T	C	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.712;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.54;ReadPosRankSum=-1.068;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2029868;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|UBE2U|UBE2U|transcript|NM_152489.1|protein_coding|7/8|c.595+79T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1216;p3_1000G_AF=0.242812;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=17413;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.2982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64698411;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:62:186,0,62
chr1	64241560	rs825189	G	C	55.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs825189;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|UBE2U|UBE2U|transcript|NM_152489.1|protein_coding|7/8|c.596-92G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3206;p3_1000G_AF=0.640176;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=15314;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64707243;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0
chr1	64244208	rs10789152	A	G	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.533;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.623;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10789152;dbSNPBuildID=120;ANN=G|3_prime_UTR_variant|MODIFIER|UBE2U|UBE2U|transcript|NM_152489.1|protein_coding|9/9|c.*75A>G|||||75|;p3_1000G_AA=A|||;p3_1000G_AC=1209;p3_1000G_AF=0.241414;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=13068;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.2684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64709891;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=240,1144;ESP6500_AA_GTC=19,202,471;ESP6500_CDS_SIZES=NM_152489.1:681;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=69;ESP6500_EA_AC=797,2385;ESP6500_EA_GTC=102,593,896;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152489.1:utr-3;ESP6500_GL=UBE2U;ESP6500_GRCh38_POSITION=1:64244208;ESP6500_GTC=121,795,1367;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152489.1:c.*75A>G;ESP6500_MAF=25.0471,17.341,22.7113;ESP6500_TAC=1037,3529	GT:AD:DP:GQ:PL	0/1:8,7:15:99:182,0,201
chr1	64260466	rs397939205;rs59424600	C	CTCAG	112.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.204;SOR=0.412;INS;HET;VARTYPE=INS;dbSNP138_ID=rs59424600;dbSNPBuildID=137,138;ANN=CTCAG|intergenic_region|MODIFIER|UBE2U-CACHD1|UBE2U-CACHD1|intergenic_region|UBE2U-CACHD1|||n.64260466_64260467insTCAG||||||;p3_1000G_AC=1196;p3_1000G_AF=0.238818;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=17237;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.2684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64726149;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,4:10:99:150,0,338
chr1	64260731	rs705542	A	C	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.192;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs705542;dbSNPBuildID=86;ANN=C|intergenic_region|MODIFIER|UBE2U-CACHD1|UBE2U-CACHD1|intergenic_region|UBE2U-CACHD1|||n.64260731A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3016;p3_1000G_AF=0.602236;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=16959;p3_1000G_EAS_AF=0.7073;p3_1000G_EUR_AF=0.6382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64726414;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,8:22:99:239,0,382
chr1	64355349	rs11809056	G	C	176.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.54;QD=29.47;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11809056;dbSNPBuildID=120;ANN=C|intergenic_region|MODIFIER|UBE2U-CACHD1|UBE2U-CACHD1|intergenic_region|UBE2U-CACHD1|||n.64355349G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3290;p3_1000G_AF=0.656949;p3_1000G_AFR_AF=0.7731;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=15227;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.6173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64821032;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:205,18,0
chr1	64550666	rs2164571	A	T	1172.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2164571;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_020925.2|protein_coding|2/26|c.108+10A>T||||||,T|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_001293274.1|protein_coding|2/25|c.-483+10A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4586;p3_1000G_AF=0.915735;p3_1000G_AFR_AF=0.7814;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=16563;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65016349;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9755;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3042,782;ESP6500_AA_GTC=1209,624,79;ESP6500_CDS_SIZES=NM_020925.2:3672;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=79;ESP6500_EA_AC=7713,517;ESP6500_EA_GTC=3614,485,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020925.2:intron;ESP6500_GL=CACHD1;ESP6500_GRCh38_POSITION=1:64550666;ESP6500_GTC=4823,1109,95;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020925.2:c.108+10A>T;ESP6500_MAF=6.2819,20.4498,10.7765;ESP6500_TAC=10755,1299	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1201,114,0
chr1	64602955	rs6665437	T	C	924.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=2.621;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6665437;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_020925.2|protein_coding|4/26|c.364+43T>C||||||,C|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_001293274.1|protein_coding|4/25|c.-227+43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4947;p3_1000G_AF=0.987819;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=14076;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65068638;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3455,177;ESP6500_AA_GTC=1649,157,10;ESP6500_CDS_SIZES=NM_020925.2:3672;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=63;ESP6500_EA_AC=8159,3;ESP6500_EA_GTC=4078,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020925.2:intron;ESP6500_GL=CACHD1;ESP6500_GRCh38_POSITION=1:64602955;ESP6500_GTC=5727,160,10;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020925.2:c.364+43T>C;ESP6500_MAF=0.0368,4.8733,1.5262;ESP6500_TAC=11614,180	GT:AD:DP:GQ:PL	1/1:0,30:30:90:953,90,0
chr1	64634295	rs2118102	G	A	435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2118102;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_020925.2|protein_coding|7/26|c.853+35G>A||||||,A|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_001293274.1|protein_coding|6/25|c.118+35G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=16912;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65099978;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3324,1082;ESP6500_AA_AGE=389.3+/-327.3;ESP6500_AA_GTC=1246,832,125;ESP6500_CDS_SIZES=NM_020925.2:3672;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=31;ESP6500_EA_AC=8592,8;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=4292,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020925.2:intron;ESP6500_GL=CACHD1;ESP6500_GRCh38_POSITION=1:64634295;ESP6500_GTC=5538,840,125;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020925.2:c.853+35G>A;ESP6500_MAF=0.093,24.5574,8.3807;ESP6500_TAC=11916,1090	GT:AD:DP:GQ:PL	1/1:0,14:14:42:464,42,0
chr1	64647885	rs6588100	T	C	2592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.15;SOR=0.74;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6588100;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|CACHD1|CACHD1|transcript|NM_020925.2|protein_coding|9/27|c.1088T>C|p.Met363Thr|1193/5274|1088/3672|363/1223||,C|missense_variant|MODERATE|CACHD1|CACHD1|transcript|NM_001293274.1|protein_coding|8/26|c.353T>C|p.Met118Thr|1472/5553|353/2937|118/978||;p3_1000G_AA=C|||;p3_1000G_AC=4997;p3_1000G_AF=0.997804;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17728;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65113568;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4362,44;ESP6500_AA_AGE=46.7+/-81.2;ESP6500_AA_GTC=2161,40,2;ESP6500_CDS_SIZES=NM_020925.2:3672;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=94;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020925.2:missense;ESP6500_GL=CACHD1;ESP6500_GRCh38_POSITION=1:64647885;ESP6500_GS=81;ESP6500_GTC=6461,40,2;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020925.2:c.1088T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020925.2:p.(M363T);ESP6500_MAF=0.0,0.9986,0.3383;ESP6500_PH=benign:0.0;ESP6500_TAC=12962,44	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2621,258,0
chr1	64652079	rs41302756	A	G	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.31;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=0.707;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41302756;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_020925.2|protein_coding|9/26|c.1238-82A>G||||||,G|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_001293274.1|protein_coding|8/25|c.503-82A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=517;p3_1000G_AF=0.103235;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=20061;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.0477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65117762;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:333,0,132
chr1	64653714	rs7518616	A	G	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.84;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.74;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7518616;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_020925.2|protein_coding|10/26|c.1388-44A>G||||||,G|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_001293274.1|protein_coding|9/25|c.653-44A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1887;p3_1000G_AF=0.376797;p3_1000G_AFR_AF=0.4387;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=16161;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.0835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65119397;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1745,2661;ESP6500_AA_AGE=522.8+/-370.9;ESP6500_AA_GTC=366,1013,824;ESP6500_CDS_SIZES=NM_020925.2:3672;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=116;ESP6500_EA_AC=636,7964;ESP6500_EA_AGE=163.8+/-216.2;ESP6500_EA_GTC=32,572,3696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020925.2:intron;ESP6500_GL=CACHD1;ESP6500_GRCh38_POSITION=1:64653714;ESP6500_GTC=398,1585,4520;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020925.2:c.1388-44A>G;ESP6500_MAF=7.3953,39.6051,18.3069;ESP6500_TAC=2381,10625	GT:AD:DP:GQ:PL	0/1:21,18:39:99:515,0,523
chr1	64673104	rs397819120;rs530163511	G	GA	362.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.18;SOR=3.126;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34293073;dbSNPBuildID=142,138;ANN=GA|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_020925.2|protein_coding|17/26|c.2358-41dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|CACHD1|CACHD1|transcript|NM_001293274.1|protein_coding|16/25|c.1623-41dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2194;p3_1000G_AF=0.438099;p3_1000G_AFR_AF=0.4349;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=19815;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.333;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65138787;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:64673104_G_GA:400,45,0
chr1	64681319	rs3828064	C	T	551.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.558;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.03;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828064;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|CACHD1|CACHD1|transcript|NM_020925.2|protein_coding|25/27|c.3315C>T|p.His1105His|3420/5274|3315/3672|1105/1223||,T|synonymous_variant|LOW|CACHD1|CACHD1|transcript|NM_001293274.1|protein_coding|24/26|c.2580C>T|p.His860His|3699/5553|2580/2937|860/978||;p3_1000G_AA=C|||;p3_1000G_AC=639;p3_1000G_AF=0.127596;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=17472;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.0457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65147002;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=721,3685;ESP6500_AA_AGE=298.7+/-285.4;ESP6500_AA_GTC=51,619,1533;ESP6500_CDS_SIZES=NM_020925.2:3672;ESP6500_CG=-3.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=123;ESP6500_EA_AC=396,8204;ESP6500_EA_AGE=126.5+/-185.0;ESP6500_EA_GTC=12,372,3916;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020925.2:coding-synonymous;ESP6500_GL=CACHD1;ESP6500_GRCh38_POSITION=1:64681319;ESP6500_GTC=63,991,5449;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020925.2:c.3315C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020925.2:p.(H1105);ESP6500_MAF=4.6047,16.364,8.5883;ESP6500_TAC=1117,11889	GT:AD:DP:GQ:PL	0/1:25,26:51:99:580,0,612
chr1	64789335	rs2500232	G	A	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.783;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=1.22;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2500232;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RAVER2|RAVER2|transcript|NM_018211.3|protein_coding|4/11|c.979-53G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2679;p3_1000G_AF=0.534944;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=14608;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65255018;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:121,0,270
chr1	64839839	rs2274943	G	A	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.588;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=7.83;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.566;SOR=0.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274943;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|20/25|c.2650-44C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|20/25|c.2650-44C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|19/24|c.2647-44C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_002227.3|protein_coding|19/24|c.2650-44C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|19/24|c.2650-44C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|19/24|c.2650-44C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|21/26|c.2650-44C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|20/25|c.2650-44C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=463;p3_1000G_AF=0.0924521;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=19205;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65305522;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=220,3866;ESP6500_AA_GTC=2,216,1825;ESP6500_CDS_SIZES=NM_002227.2:3465;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=28;ESP6500_EA_AC=65,8305;ESP6500_EA_GTC=0,65,4120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002227.2:intron;ESP6500_GL=JAK1;ESP6500_GRCh38_POSITION=1:64839839;ESP6500_GTC=2,281,5945;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002227.2:c.2650-44C>T;ESP6500_MAF=0.7766,5.3842,2.2881;ESP6500_TAC=285,12171	GT:AD:DP:GQ:PL	0/1:8,6:14:99:180,0,288
chr1	64844806	rs2230588	T	C	737.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.52;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.473;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230588;dbSNPBuildID=98;ANN=C|structural_interaction_variant|HIGH|JAK1|JAK1|interaction|4L00:A_697-A_733:NM_002227.3|protein_coding|16/25|c.2199A>G||||||,C|structural_interaction_variant|HIGH|JAK1|JAK1|interaction|4L00:B_697-B_733:NM_002227.3|protein_coding|16/25|c.2199A>G||||||,C|structural_interaction_variant|HIGH|JAK1|JAK1|interaction|4L01:A_697-A_733:NM_002227.3|protein_coding|16/25|c.2199A>G||||||,C|structural_interaction_variant|HIGH|JAK1|JAK1|interaction|4L01:B_697-B_733:NM_002227.3|protein_coding|16/25|c.2199A>G||||||,C|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|17/26|c.2199A>G|p.Pro733Pro|2416/5021|2199/3465|733/1154||,C|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|17/26|c.2199A>G|p.Pro733Pro|2597/5202|2199/3465|733/1154||,C|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|16/25|c.2196A>G|p.Pro732Pro|2510/5115|2196/3462|732/1153||,C|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_002227.3|protein_coding|16/25|c.2199A>G|p.Pro733Pro|2513/5118|2199/3465|733/1154||,C|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|16/25|c.2199A>G|p.Pro733Pro|2332/4937|2199/3465|733/1154||,C|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|16/25|c.2199A>G|p.Pro733Pro|2419/5024|2199/3465|733/1154||,C|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|18/27|c.2199A>G|p.Pro733Pro|2678/5283|2199/3465|733/1154||,C|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|17/26|c.2199A>G|p.Pro733Pro|2594/5199|2199/3465|733/1154||;p3_1000G_AA=C|||;p3_1000G_AC=1866;p3_1000G_AF=0.372604;p3_1000G_AFR_AF=0.6604;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=18529;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65310489;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2469,1773;ESP6500_AA_GTC=752,965,404;ESP6500_CDS_SIZES=NM_002227.2:3465;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=104;ESP6500_EA_AC=1963,6487;ESP6500_EA_GTC=242,1479,2504;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002227.2:coding-synonymous;ESP6500_GL=JAK1;ESP6500_GRCh38_POSITION=1:64844806;ESP6500_GTC=994,2444,2908;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002227.2:c.2199A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002227.2:p.(P733);ESP6500_MAF=23.2308,41.7963,34.9196;ESP6500_TAC=4432,8260	GT:AD:DP:GQ:PL	0/1:33,31:64:99:766,0,807
chr1	64845433	rs2780821	G	C	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.14;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.032;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2780821;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|16/25|c.2115+80C>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|16/25|c.2115+80C>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|15/24|c.2112+80C>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_002227.3|protein_coding|15/24|c.2115+80C>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|15/24|c.2115+80C>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|15/24|c.2115+80C>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|17/26|c.2115+80C>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|16/25|c.2115+80C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1857;p3_1000G_AF=0.370807;p3_1000G_AFR_AF=0.6536;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=17741;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65311116;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,8:17:99:0|1:64845433_G_C:342,0,616
chr1	64845434	rs2780896;rs200582177	C	T	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.839;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=-0.417;SOR=0.141;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2780896;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|16/25|c.2115+79G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|16/25|c.2115+79G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|15/24|c.2112+79G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_002227.3|protein_coding|15/24|c.2115+79G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|15/24|c.2115+79G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|15/24|c.2115+79G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|17/26|c.2115+79G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|16/25|c.2115+79G>A||||||;p3_1000G_AC=1865;p3_1000G_AF=0.372404;p3_1000G_AFR_AF=0.6596;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=17690;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65311117;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,9:18:99:0|1:64845433_G_C:342,0,616
chr1	64845579	rs2230587	G	A	491.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.231;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.423;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230587;dbSNPBuildID=108;ANN=A|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|16/26|c.2049C>T|p.Ser683Ser|2266/5021|2049/3465|683/1154||,A|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|16/26|c.2049C>T|p.Ser683Ser|2447/5202|2049/3465|683/1154||,A|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|15/25|c.2046C>T|p.Ser682Ser|2360/5115|2046/3462|682/1153||,A|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_002227.3|protein_coding|15/25|c.2049C>T|p.Ser683Ser|2363/5118|2049/3465|683/1154||,A|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|15/25|c.2049C>T|p.Ser683Ser|2182/4937|2049/3465|683/1154||,A|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|15/25|c.2049C>T|p.Ser683Ser|2269/5024|2049/3465|683/1154||,A|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|17/27|c.2049C>T|p.Ser683Ser|2528/5283|2049/3465|683/1154||,A|synonymous_variant|LOW|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|16/26|c.2049C>T|p.Ser683Ser|2444/5199|2049/3465|683/1154||,A|sequence_feature|LOW|JAK1|JAK1|turn:combinatorial_evidence_used_in_manual_assertion|NM_001321853.1|protein_coding|17/27|c.2049C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=993;p3_1000G_AF=0.198283;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=20097;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.1153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65311262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=741,3175;ESP6500_AA_GTC=60,621,1277;ESP6500_CDS_SIZES=NM_002227.2:3465;ESP6500_CG=-6.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=152;ESP6500_EA_AC=916,7392;ESP6500_EA_GTC=41,834,3279;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002227.2:coding-synonymous;ESP6500_GL=JAK1;ESP6500_GRCh38_POSITION=1:64845579;ESP6500_GTC=101,1455,4556;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002227.2:c.2049C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002227.2:p.(S683);ESP6500_MAF=11.0255,18.9224,13.5553;ESP6500_TAC=1657,10567	GT:AD:DP:GQ:PL	0/1:25,20:45:99:520,0,644
chr1	64850992	rs310216	G	A	309.53	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.636;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.81;ReadPosRankSum=-0.491;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs310216;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|12/25|c.1649-82C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|12/25|c.1649-82C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|11/24|c.1646-82C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_002227.3|protein_coding|11/24|c.1649-82C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|11/24|c.1649-82C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|11/24|c.1649-82C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|13/26|c.1649-82C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|12/25|c.1649-82C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1825;p3_1000G_AF=0.364417;p3_1000G_AFR_AF=0.6316;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=15907;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65316675;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,12:13:3:336,0,3
chr1	64855705	rs310229	G	A	555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.25;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.823;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs310229;dbSNPBuildID=79;ANN=A|splice_region_variant&intron_variant|LOW|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|11/25|c.1459-7C>T||||||,A|splice_region_variant&intron_variant|LOW|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|11/25|c.1459-7C>T||||||,A|splice_region_variant&intron_variant|LOW|JAK1|JAK1|transcript|NM_002227.3|protein_coding|10/24|c.1459-7C>T||||||,A|splice_region_variant&intron_variant|LOW|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|10/24|c.1459-7C>T||||||,A|splice_region_variant&intron_variant|LOW|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|10/24|c.1459-7C>T||||||,A|splice_region_variant&intron_variant|LOW|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|12/26|c.1459-7C>T||||||,A|splice_region_variant&intron_variant|LOW|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|11/25|c.1459-7C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|10/24|c.1459-10C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2016;p3_1000G_AF=0.402556;p3_1000G_AFR_AF=0.6309;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=17218;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.2932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65321388;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2127,1643;ESP6500_AA_GTC=611,905,369;ESP6500_CDS_SIZES=NM_002227.2:3465;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=46;ESP6500_EA_AC=2427,5783;ESP6500_EA_GTC=361,1705,2039;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002227.2:intron;ESP6500_GL=JAK1;ESP6500_GRCh38_POSITION=1:64855705;ESP6500_GTC=972,2610,2408;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002227.2:c.1459-7C>T;ESP6500_MAF=29.5615,43.5809,38.0134;ESP6500_TAC=4554,7426	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,25:44:99:0|1:64855705_G_A:584,0,670
chr1	64855726	rs2274948	T	C	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.106;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274948;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|11/25|c.1459-28A>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|11/25|c.1459-28A>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|10/24|c.1459-31A>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_002227.3|protein_coding|10/24|c.1459-28A>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|10/24|c.1459-28A>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|10/24|c.1459-28A>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|12/26|c.1459-28A>G||||||,C|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|11/25|c.1459-28A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=170;p3_1000G_AF=0.0339457;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=17264;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65321409;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=5,3713;ESP6500_AA_GTC=0,5,1854;ESP6500_CDS_SIZES=NM_002227.2:3465;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=3,8187;ESP6500_EA_GTC=0,3,4092;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002227.2:intron;ESP6500_GL=JAK1;ESP6500_GRCh38_POSITION=1:64855726;ESP6500_GTC=0,8,5946;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002227.2:c.1459-28A>G;ESP6500_MAF=0.0366,0.1345,0.0672;ESP6500_TAC=8,11900	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,15:36:99:1|0:64855705_G_A:338,0,818
chr1	64860287	rs310224	C	T	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.406;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.734;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs310224;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|9/25|c.1177-25G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|9/25|c.1177-25G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|8/24|c.1177-25G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_002227.3|protein_coding|8/24|c.1177-25G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|8/24|c.1177-25G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|8/24|c.1177-25G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|10/26|c.1177-25G>A||||||,T|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|9/25|c.1177-25G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2024;p3_1000G_AF=0.404153;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=14166;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.2932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65325970;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2337,1821;ESP6500_AA_GTC=683,971,425;ESP6500_CDS_SIZES=NM_002227.2:3465;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=60;ESP6500_EA_AC=2487,5959;ESP6500_EA_GTC=371,1745,2107;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002227.2:intron;ESP6500_GL=JAK1;ESP6500_GRCh38_POSITION=1:64860287;ESP6500_GTC=1054,2716,2532;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002227.2:c.1177-25G>A;ESP6500_MAF=29.4459,43.7951,38.2736;ESP6500_TAC=4824,7780	GT:AD:DP:GQ:PL	0/1:15,13:28:99:329,0,418
chr1	64864999	rs2256298	G	A	79.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2256298;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|8/25|c.991-27C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|8/25|c.991-27C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|7/24|c.991-27C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_002227.3|protein_coding|7/24|c.991-27C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|7/24|c.991-27C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|7/24|c.991-27C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|9/26|c.991-27C>T||||||,A|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|8/25|c.991-27C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1839;p3_1000G_AF=0.367212;p3_1000G_AFR_AF=0.6248;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=20341;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65330682;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2035,1645;ESP6500_AA_GTC=575,885,380;ESP6500_CDS_SIZES=NM_002227.2:3465;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=1874,6296;ESP6500_EA_GTC=227,1420,2438;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002227.2:intron;ESP6500_GL=JAK1;ESP6500_GRCh38_POSITION=1:64864999;ESP6500_GTC=802,2305,2818;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002227.2:c.991-27C>T;ESP6500_MAF=22.9376,44.7011,32.9873;ESP6500_TAC=3909,7941	GT:AD:DP:GQ:PL	1/1:0,3:3:9:107,9,0
chr1	64873549	rs3818753	A	G	129.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=4.301;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.63;ReadPosRankSum=0.224;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818753;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001320923.1|protein_coding|5/25|c.330-26T>C||||||,G|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321855.1|protein_coding|5/25|c.330-26T>C||||||,G|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321857.1|protein_coding|4/24|c.330-26T>C||||||,G|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_002227.3|protein_coding|4/24|c.330-26T>C||||||,G|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321856.1|protein_coding|4/24|c.330-26T>C||||||,G|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321852.1|protein_coding|4/24|c.330-26T>C||||||,G|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321853.1|protein_coding|6/26|c.330-26T>C||||||,G|intron_variant|MODIFIER|JAK1|JAK1|transcript|NM_001321854.1|protein_coding|5/25|c.330-26T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=76;p3_1000G_AF=0.0151757;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=19960;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65339232;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2,4130;ESP6500_AA_GTC=0,2,2064;ESP6500_CDS_SIZES=NM_002227.2:3465;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=59;ESP6500_EA_AC=8,8422;ESP6500_EA_GTC=0,8,4207;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002227.2:intron;ESP6500_GL=JAK1;ESP6500_GRCh38_POSITION=1:64873549;ESP6500_GTC=0,10,6271;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002227.2:c.330-26T>C;ESP6500_MAF=0.0949,0.0484,0.0796;ESP6500_TAC=10,12552	GT:AD:DP:GQ:PL	0/1:21,7:28:99:158,0,558
chr1	65148471	rs17853973	T	A	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.311;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=53.95;MQRankSum=-1.397;QD=11.62;ReadPosRankSum=0;SOR=0.243;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17853973;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|AK4|AK4|transcript|NM_001005353.2|protein_coding|2/6|c.64T>A|p.Cys22Ser|422/6998|64/672|22/223||,A|missense_variant|MODERATE|AK4|AK4|transcript|NM_203464.2|protein_coding|2/6|c.64T>A|p.Cys22Ser|311/6887|64/672|22/223||,A|missense_variant|MODERATE|AK4|AK4|transcript|NM_013410.3|protein_coding|1/5|c.64T>A|p.Cys22Ser|305/6881|64/672|22/223||;p3_1000G_AA=T|||;p3_1000G_AC=1086;p3_1000G_AF=0.216853;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=12349;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65614154;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1369,2755;ESP6500_AA_GTC=205,959,898;ESP6500_CDS_SIZES=NM_203464.2:672,NM_013410.3:672,NM_001005353.2:672;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=4;ESP6500_EA_AC=151,8019;ESP6500_EA_GTC=4,143,3938;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203464.2:missense,NM_013410.3:missense,NM_001005353.2:missense;ESP6500_GL=AK4;ESP6500_GRCh38_POSITION=1:65148471;ESP6500_GS=112,112,112;ESP6500_GTC=209,1102,4836;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_203464.2:c.64T>A,NM_013410.3:c.64T>A,NM_001005353.2:c.64T>A;ESP6500_HGVS_PROTEIN_VAR=NM_203464.2:p.(C22S),NM_013410.3:p.(C22S),NM_001005353.2:p.(C22S);ESP6500_MAF=1.8482,33.1959,12.3638;ESP6500_PH=benign:0.004,benign:0.004,benign:0.004;ESP6500_TAC=1520,10774	GT:AD:DP:GQ:PL	0/1:9,10:19:99:249,0,225
chr1	65148635	rs6664331	A	G	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.967;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6664331;dbSNPBuildID=116;ANN=G|sequence_feature|LOW|AK4|AK4|helix:combinatorial_evidence_used_in_manual_assertion|NM_013410.3|protein_coding|1/4|c.145+83A>G||||||,G|intron_variant|MODIFIER|AK4|AK4|transcript|NM_001005353.2|protein_coding|2/5|c.145+83A>G||||||,G|intron_variant|MODIFIER|AK4|AK4|transcript|NM_203464.2|protein_coding|2/5|c.145+83A>G||||||,G|intron_variant|MODIFIER|AK4|AK4|transcript|NM_013410.3|protein_coding|1/4|c.145+83A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1146;p3_1000G_AF=0.228834;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=9950;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.0179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65614318;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:135,0,189
chr1	65218742	rs11208611	C	T	590.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.888;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.461;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11208611;dbSNPBuildID=120;ANN=T|sequence_feature|LOW|AK4|AK4|nucleotide-phosphate-binding-region:AMP|NM_013410.3|protein_coding|2/4|c.266-12C>T||||||,T|intron_variant|MODIFIER|AK4|AK4|transcript|NM_001005353.2|protein_coding|3/5|c.266-12C>T||||||,T|intron_variant|MODIFIER|AK4|AK4|transcript|NM_203464.2|protein_coding|3/5|c.266-12C>T||||||,T|intron_variant|MODIFIER|AK4|AK4|transcript|NM_013410.3|protein_coding|2/4|c.266-12C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3022;p3_1000G_AF=0.603435;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=18141;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.3022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65684425;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4939;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3449,957;ESP6500_AA_AGE=360.4+/-315.2;ESP6500_AA_GTC=1352,745,106;ESP6500_CDS_SIZES=NM_203464.2:672,NM_013410.3:672,NM_001005353.2:672;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=71;ESP6500_EA_AC=2962,5638;ESP6500_EA_AGE=665.7+/-402.3;ESP6500_EA_GTC=525,1912,1863;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203464.2:intron,NM_013410.3:intron,NM_001005353.2:intron;ESP6500_GL=AK4;ESP6500_GRCh38_POSITION=1:65218742;ESP6500_GTC=1877,2657,1969;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_203464.2:c.266-12C>T,NM_013410.3:c.266-12C>T,NM_001005353.2:c.266-12C>T;ESP6500_MAF=34.4419,21.7204,49.2926;ESP6500_TAC=6411,6595	GT:AD:DP:GQ:PL	0/1:19,23:42:99:619,0,540
chr1	65224778	rs4915685	G	A	841.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.604;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=3.467;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.729;SOR=1.201;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915685;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|AK4|AK4|transcript|NM_001005353.2|protein_coding|5/6|c.465G>A|p.Pro155Pro|823/6998|465/672|155/223||,A|synonymous_variant|LOW|AK4|AK4|transcript|NM_203464.2|protein_coding|5/6|c.465G>A|p.Pro155Pro|712/6887|465/672|155/223||,A|synonymous_variant|LOW|AK4|AK4|transcript|NM_013410.3|protein_coding|4/5|c.465G>A|p.Pro155Pro|706/6881|465/672|155/223||;p3_1000G_AA=A|||;p3_1000G_AC=1853;p3_1000G_AF=0.370008;p3_1000G_AFR_AF=0.3298;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=20813;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65690461;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1379,3027;ESP6500_AA_AGE=689.8+/-405.2;ESP6500_AA_GTC=220,939,1044;ESP6500_CDS_SIZES=NM_203464.2:672,NM_013410.3:672,NM_001005353.2:672;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=131;ESP6500_EA_AC=1801,6799;ESP6500_EA_AGE=732.9+/-406.9;ESP6500_EA_GTC=187,1427,2686;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203464.2:coding-synonymous,NM_013410.3:coding-synonymous,NM_001005353.2:coding-synonymous;ESP6500_GL=AK4;ESP6500_GRCh38_POSITION=1:65224778;ESP6500_GTC=407,2366,3730;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_203464.2:c.465G>A,NM_013410.3:c.465G>A,NM_001005353.2:c.465G>A;ESP6500_HGVS_PROTEIN_VAR=NM_203464.2:p.(P155),NM_013410.3:p.(P155),NM_001005353.2:p.(P155);ESP6500_MAF=20.9419,31.2982,24.4503;ESP6500_TAC=3180,9826	GT:AD:DP:GQ:PL	0/1:35,31:66:99:870,0,925
chr1	65364614	rs2296478	G	T	646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.56;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296478;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|1/18|c.194-21G>T||||||,T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|2/19|c.-17-21G>T||||||,T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|1/18|c.23-21G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2756;p3_1000G_AF=0.550319;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=19097;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65830297;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:65364614_G_T:675,45,0
chr1	65364616	rs2296479	T	G	646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296479;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|1/18|c.194-19T>G||||||,G|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|2/19|c.-17-19T>G||||||,G|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|1/18|c.23-19T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2756;p3_1000G_AF=0.550319;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=18529;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65830299;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:65364614_G_T:675,45,0
chr1	65379359	rs2296480	A	T	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.187;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=2.61;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296480;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|4/18|c.544-43A>T||||||,T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|5/19|c.334-43A>T||||||,T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|4/18|c.373-43A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1999;p3_1000G_AF=0.399161;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=18621;p3_1000G_EAS_AF=0.625;p3_1000G_EUR_AF=0.0805;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65845042;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2368,2038;ESP6500_AA_AGE=607.5+/-391.0;ESP6500_AA_GTC=638,1092,473;ESP6500_CDS_SIZES=NM_014787.3:2742,NM_001256865.1:2703,NM_001256864.1:2913;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=612,7988;ESP6500_EA_AGE=158.5+/-212.0;ESP6500_EA_GTC=21,570,3709;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014787.3:intron,NM_001256865.1:intron,NM_001256864.1:intron;ESP6500_GL=DNAJC6;ESP6500_GRCh38_POSITION=1:65379359;ESP6500_GTC=659,1662,4182;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_014787.3:c.373-43A>T,NM_001256865.1:c.334-43A>T,NM_001256864.1:c.544-43A>T;ESP6500_MAF=7.1163,46.2551,22.9125;ESP6500_TAC=2980,10026	GT:AD:DP:GQ:PL	0/1:16,15:31:99:409,0,408
chr1	65379393	rs2296481	C	T	544.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.604;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.191;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.225;SOR=0.409;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296481;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|4/18|c.544-9C>T||||||,T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|5/19|c.334-9C>T||||||,T|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|4/18|c.373-9C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1998;p3_1000G_AF=0.398962;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=19453;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.0805;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65845076;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2377,2029;ESP6500_AA_AGE=564.5+/-381.5;ESP6500_AA_GTC=637,1103,463;ESP6500_CDS_SIZES=NM_014787.3:2742,NM_001256865.1:2703,NM_001256864.1:2913;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=131;ESP6500_EA_AC=611,7989;ESP6500_EA_AGE=792.2+/-407.5;ESP6500_EA_GTC=21,569,3710;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014787.3:intron,NM_001256865.1:intron,NM_001256864.1:intron;ESP6500_GL=DNAJC6;ESP6500_GRCh38_POSITION=1:65379393;ESP6500_GTC=658,1672,4173;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014787.3:c.373-9C>T,NM_001256865.1:c.334-9C>T,NM_001256864.1:c.544-9C>T;ESP6500_MAF=7.1047,46.0508,22.974;ESP6500_TAC=2988,10018	GT:AD:DP:GQ:PL	0/1:24,24:48:99:573,0,652
chr1	65392468	rs11208644	C	T	444.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.666;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.178;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.011;SOR=0.29;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11208644;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|12/19|c.1506C>T|p.His502His|1717/5968|1506/2913|502/970||,T|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|13/20|c.1296C>T|p.His432His|1665/5916|1296/2703|432/900||,T|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|12/19|c.1335C>T|p.His445His|1552/5803|1335/2742|445/913||;p3_1000G_AA=C|||;p3_1000G_AC=1572;p3_1000G_AF=0.313898;p3_1000G_AFR_AF=0.5144;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=21203;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65858151;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1885,2521;ESP6500_AA_AGE=541.7+/-375.8;ESP6500_AA_GTC=398,1089,716;ESP6500_CDS_SIZES=NM_014787.3:2742,NM_001256865.1:2703,NM_001256864.1:2913;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=55;ESP6500_EA_AC=153,8447;ESP6500_EA_AGE=72.9+/-135.5;ESP6500_EA_GTC=4,145,4151;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014787.3:coding-synonymous,NM_001256865.1:coding-synonymous,NM_001256864.1:coding-synonymous;ESP6500_GL=DNAJC6;ESP6500_GRCh38_POSITION=1:65392468;ESP6500_GTC=402,1234,4867;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014787.3:c.1335C>T,NM_001256865.1:c.1296C>T,NM_001256864.1:c.1506C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014787.3:p.(H445),NM_001256865.1:p.(H432),NM_001256864.1:p.(H502);ESP6500_MAF=1.7791,42.7826,15.6697;ESP6500_TAC=2038,10968	GT:AD:DP:GQ:PL	0/1:17,19:36:99:473,0,461
chr1	65394977	rs12077111	T	C	527.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.365;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.321;SOR=1.047;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12077111;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|13/19|c.1983T>C|p.Ser661Ser|2194/5968|1983/2913|661/970||,C|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|14/20|c.1773T>C|p.Ser591Ser|2142/5916|1773/2703|591/900||,C|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|13/19|c.1812T>C|p.Ser604Ser|2029/5803|1812/2742|604/913||;p3_1000G_AA=t|||;p3_1000G_AC=1574;p3_1000G_AF=0.314297;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=19911;p3_1000G_EAS_AF=0.5883;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65860660;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1887,2519;ESP6500_AA_AGE=543.0+/-376.2;ESP6500_AA_GTC=399,1089,715;ESP6500_CDS_SIZES=NM_014787.3:2742,NM_001256865.1:2703,NM_001256864.1:2913;ESP6500_CG=1.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=153;ESP6500_EA_AC=152,8448;ESP6500_EA_AGE=72.6+/-135.2;ESP6500_EA_GTC=4,144,4152;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014787.3:coding-synonymous,NM_001256865.1:coding-synonymous,NM_001256864.1:coding-synonymous;ESP6500_GL=DNAJC6;ESP6500_GRCh38_POSITION=1:65394977;ESP6500_GTC=403,1233,4867;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014787.3:c.1812T>C,NM_001256865.1:c.1773T>C,NM_001256864.1:c.1983T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014787.3:p.(S604),NM_001256865.1:p.(S591),NM_001256864.1:p.(S661);ESP6500_MAF=1.7674,42.828,15.6774;ESP6500_TAC=2039,10967	GT:AD:DP:GQ:PL	0/1:28,23:51:99:556,0,646
chr1	65395004	rs4582839	A	C	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.721;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4582839;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|13/19|c.2010A>C|p.Pro670Pro|2221/5968|2010/2913|670/970||,C|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|14/20|c.1800A>C|p.Pro600Pro|2169/5916|1800/2703|600/900||,C|synonymous_variant|LOW|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|13/19|c.1839A>C|p.Pro613Pro|2056/5803|1839/2742|613/913||;p3_1000G_AA=C|||;p3_1000G_AC=3795;p3_1000G_AF=0.757788;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=19335;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65860687;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4022,384;ESP6500_AA_AGE=189.9+/-215.9;ESP6500_AA_GTC=1846,330,27;ESP6500_CDS_SIZES=NM_014787.3:2742,NM_001256865.1:2703,NM_001256864.1:2913;ESP6500_CG=-4.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=155;ESP6500_EA_AC=5023,3577;ESP6500_EA_AGE=517.8+/-379.1;ESP6500_EA_GTC=1449,2125,726;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014787.3:coding-synonymous,NM_001256865.1:coding-synonymous,NM_001256864.1:coding-synonymous;ESP6500_GL=DNAJC6;ESP6500_GRCh38_POSITION=1:65395004;ESP6500_GTC=3295,2455,753;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014787.3:c.1839A>C,NM_001256865.1:c.1800A>C,NM_001256864.1:c.2010A>C;ESP6500_HGVS_PROTEIN_VAR=NM_014787.3:p.(P613),NM_001256865.1:p.(P600),NM_001256864.1:p.(P670);ESP6500_MAF=41.593,8.7154,30.4552;ESP6500_TAC=9045,3961	GT:AD:DP:GQ:PL	0/1:29,19:48:99:482,0,707
chr1	65401708	rs4592284	C	G	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.03;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.12;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4592284;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|14/18|c.2108-53C>G||||||,G|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|15/19|c.1898-53C>G||||||,G|intron_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|14/18|c.1937-53C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3663;p3_1000G_AF=0.73143;p3_1000G_AFR_AF=0.8971;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=20312;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.5815;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65867391;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:360,0,369
chr1	65401836	rs4915691	G	A	692.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.989;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=1.022;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.146;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915691;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding|15/19|c.2183G>A|p.Ser728Asn|2394/5968|2183/2913|728/970||,A|missense_variant|MODERATE|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding|16/20|c.1973G>A|p.Ser658Asn|2342/5916|1973/2703|658/900||,A|missense_variant|MODERATE|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding|15/19|c.2012G>A|p.Ser671Asn|2229/5803|2012/2742|671/913||;p3_1000G_AA=A|||;p3_1000G_AC=1804;p3_1000G_AF=0.360224;p3_1000G_AFR_AF=0.5552;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=18429;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65867519;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2046,2360;ESP6500_AA_AGE=609.9+/-391.4;ESP6500_AA_GTC=466,1114,623;ESP6500_CDS_SIZES=NM_014787.3:2742,NM_001256865.1:2703,NM_001256864.1:2913;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=97;ESP6500_EA_AC=338,8262;ESP6500_EA_AGE=804.3+/-407.3;ESP6500_EA_GTC=8,322,3970;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014787.3:missense,NM_001256865.1:missense,NM_001256864.1:missense;ESP6500_GL=DNAJC6;ESP6500_GRCh38_POSITION=1:65401836;ESP6500_GS=46,46,46;ESP6500_GTC=474,1436,4593;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014787.3:c.2012G>A,NM_001256865.1:c.1973G>A,NM_001256864.1:c.2183G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014787.3:p.(S671N),NM_001256865.1:p.(S658N),NM_001256864.1:p.(S728N);ESP6500_MAF=3.9302,46.4367,18.33;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=2384,10622	GT:AD:DP:GQ:PL	0/1:30,27:57:99:721,0,741
chr1	65420715	rs3790435;297982	T	C	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.721;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790435;dbSNPBuildID=107;ANN=C|5_prime_UTR_variant|MODIFIER|LEPR|LEPR|transcript|NM_002303.5|protein_coding|1/20|c.-122T>C|||||144851|,C|5_prime_UTR_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_001198683.1|protein_coding|1/3|c.-10T>C|||||10|,C|5_prime_UTR_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_017526.4|protein_coding|1/4|c.-10T>C|||||10|,C|5_prime_UTR_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|1/20|c.-122T>C|||||144851|,C|5_prime_UTR_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|1/20|c.-122T>C|||||144851|,C|upstream_gene_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_001198681.1|protein_coding||c.-702T>C|||||1|,C|downstream_gene_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding||c.*7690T>C|||||4846|,C|downstream_gene_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding||c.*7690T>C|||||4846|,C|downstream_gene_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding||c.*7690T>C|||||4846|;p3_1000G_AA=C|||;p3_1000G_AC=2844;p3_1000G_AF=0.567891;p3_1000G_AFR_AF=0.4811;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=7911;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.4453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65886398;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1909,2415;ESP6500_AA_GTC=449,1011,702;ESP6500_CDS_SIZES=NM_017526.4:396,NM_002303.5:3498,NM_001198683.1:114,NM_001003680.3:2877,NM_001003679.3:2691;ESP6500_CG=1.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=21;ESP6500_EA_AC=3736,4716;ESP6500_EA_GTC=889,1958,1379;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017526.4:utr-5,NM_002303.5:utr-5,NM_001198683.1:utr-5,NM_001003680.3:utr-5,NM_001003679.3:utr-5;ESP6500_GL=LEPR,LEPROT;ESP6500_GRCh38_POSITION=1:65420715;ESP6500_GTC=1338,2969,2081;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017526.4:c.-10T>C,NM_002303.5:c.-144851T>C,NM_001198683.1:c.-10T>C,NM_001003680.3:c.-144851T>C,NM_001003679.3:c.-144851T>C;ESP6500_MAF=44.2026,44.1489,44.1844;ESP6500_TAC=5645,7131;CLINVAR_AF_ESP=0.4418;CLINVAR_ALLELEID=282919;CLINVAR_CLNDISDB=MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN239457;CLINVAR_CLNDN=Leptin_receptor_deficiency|Monogenic_Non-Syndromic_Obesity;CLINVAR_CLNHGVS=NC_000001.11:g.65420715T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1570;CLINVAR_GENEINFO=LEPR:3953|LEPROT:54741;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3790435	GT:AD:DP:GQ:PL	0/1:18,13:31:99:355,0,487
chr1	65420765	rs3790434	T	C	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.689;SOR=0.459;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790434;dbSNPBuildID=107;ANN=C|downstream_gene_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256864.1|protein_coding||c.*7740T>C|||||4896|,C|downstream_gene_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_001256865.1|protein_coding||c.*7740T>C|||||4896|,C|downstream_gene_variant|MODIFIER|DNAJC6|DNAJC6|transcript|NM_014787.3|protein_coding||c.*7740T>C|||||4896|,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_002303.5|protein_coding|1/19|c.-97+25T>C||||||,C|intron_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_001198681.1|protein_coding|1/4|c.-90+25T>C||||||,C|intron_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_001198683.1|protein_coding|1/2|c.16+25T>C||||||,C|intron_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_017526.4|protein_coding|1/3|c.16+25T>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|1/19|c.-97+25T>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|1/19|c.-97+25T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2717;p3_1000G_AF=0.542532;p3_1000G_AFR_AF=0.3888;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=8808;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.4453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65886448;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1631,2687;ESP6500_AA_GTC=317,997,845;ESP6500_CDS_SIZES=NM_017526.4:396,NM_002303.5:3498,NM_001198683.1:114,NM_001198681.1:423,NM_001003680.3:2877,NM_001003679.3:2691;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=32;ESP6500_EA_AC=3761,4723;ESP6500_EA_GTC=892,1977,1373;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017526.4:intron,NM_002303.5:intron,NM_001198683.1:intron,NM_001198681.1:intron,NM_001003680.3:intron,NM_001003679.3:intron;ESP6500_GL=LEPR,LEPROT;ESP6500_GRCh38_POSITION=1:65420765;ESP6500_GTC=1209,2974,2218;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017526.4:c.16+25T>C,NM_002303.5:c.-144801T>C,NM_001198683.1:c.16+25T>C,NM_001198681.1:c.-652T>C,NM_001003680.3:c.-144801T>C,NM_001003679.3:c.-144801T>C;ESP6500_MAF=44.3305,37.7721,42.1184;ESP6500_TAC=5392,7410	GT:AD:DP:GQ:PL	0/1:16,9:25:99:232,0,421
chr1	65421330	rs12145690	A	C	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.71;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.847;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12145690;dbSNPBuildID=120;ANN=C|splice_region_variant|LOW|LEPROT|LEPROT|transcript|NM_001198681.1|protein_coding|2/5|c.-87A>C||||||,C|5_prime_UTR_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_001198681.1|protein_coding|2/5|c.-87A>C|||||87|,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_002303.5|protein_coding|1/19|c.-97+590A>C||||||,C|intron_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_001198683.1|protein_coding|1/2|c.16+590A>C||||||,C|intron_variant|MODIFIER|LEPROT|LEPROT|transcript|NM_017526.4|protein_coding|1/3|c.16+590A>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|1/19|c.-97+590A>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|1/19|c.-97+590A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2714;p3_1000G_AF=0.541933;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=18476;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65887013;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,9:21:99:287,0,321
chr1	65570345	rs3790431	A	G	603.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.61;SOR=5.549;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3790431;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_002303.5|protein_coding|3/19|c.41-128A>G||||||,G|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|3/19|c.41-128A>G||||||,G|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|3/19|c.41-128A>G||||||,G|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198688.1|protein_coding|2/18|c.41-128A>G||||||,G|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198687.1|protein_coding|2/18|c.41-128A>G||||||,G|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198689.1|protein_coding|2/18|c.41-128A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1062;p3_1000G_AF=0.212061;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=16895;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0.2326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66036028;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:632,45,0
chr1	65570818	rs2186248;487357	G	T	677.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.66;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2186248;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_002303.5|protein_coding|4/19|c.370+16G>T||||||,T|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|4/19|c.370+16G>T||||||,T|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|4/19|c.370+16G>T||||||,T|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198688.1|protein_coding|3/18|c.370+16G>T||||||,T|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198687.1|protein_coding|3/18|c.370+16G>T||||||,T|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198689.1|protein_coding|3/18|c.370+16G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17387;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66036501;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4387,7;ESP6500_AA_GTC=2190,7,0;ESP6500_CDS_SIZES=NM_002303.5:3498,NM_001198689.1:2691,NM_001198688.1:2721,NM_001198687.1:2877,NM_001003680.3:2877,NM_001003679.3:2691;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=27;ESP6500_EA_AC=8596,0;ESP6500_EA_GTC=4298,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002303.5:intron,NM_001198689.1:intron,NM_001198688.1:intron,NM_001198687.1:intron,NM_001003680.3:intron,NM_001003679.3:intron;ESP6500_GL=LEPR;ESP6500_GRCh38_POSITION=1:65570818;ESP6500_GTC=6488,7,0;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002303.5:c.370+16G>T,NM_001198689.1:c.370+16G>T,NM_001198688.1:c.370+16G>T,NM_001198687.1:c.370+16G>T,NM_001003680.3:c.370+16G>T,NM_001003679.3:c.370+16G>T;ESP6500_MAF=0.0,0.1593,0.0539;ESP6500_TAC=12983,7;CLINVAR_ALLELEID=480430;CLINVAR_CLNDISDB=MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494;CLINVAR_CLNDN=Leptin_receptor_deficiency;CLINVAR_CLNHGVS=NC_000001.11:g.65570818G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LEPR:3953;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2186248	GT:AD:DP:GQ:PL	1/1:0,18:18:54:706,54,0
chr1	65592830	rs1137101;8521	A	G	1210.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1137101;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|LEPR|LEPR|transcript|NM_002303.5|protein_coding|6/20|c.668A>G|p.Gln223Arg|853/4161|668/3498|223/1165||,G|missense_variant|MODERATE|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|6/20|c.668A>G|p.Gln223Arg|853/3069|668/2877|223/958||,G|missense_variant|MODERATE|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|6/20|c.668A>G|p.Gln223Arg|853/5135|668/2691|223/896||,G|missense_variant|MODERATE|LEPR|LEPR|transcript|NM_001198688.1|protein_coding|5/19|c.668A>G|p.Gln223Arg|818/2935|668/2721|223/906||,G|missense_variant|MODERATE|LEPR|LEPR|transcript|NM_001198687.1|protein_coding|5/19|c.668A>G|p.Gln223Arg|818/3034|668/2877|223/958||,G|missense_variant|MODERATE|LEPR|LEPR|transcript|NM_001198689.1|protein_coding|5/19|c.668A>G|p.Gln223Arg|818/5100|668/2691|223/896||;p3_1000G_AA=A|||;p3_1000G_AC=2926;p3_1000G_AF=0.584265;p3_1000G_AFR_AF=0.5923;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=18691;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.4692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66058513;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2471,1935;ESP6500_AA_AGE=623.5+/-394.1;ESP6500_AA_GTC=694,1083,426;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...3953&amp%3Brs...1137101|http://www.ncbi.nlm.nih.gov/omim/601007,601007|http://omim.org/entry/601007#0003|http://omim.org/entry/601007#0001;ESP6500_CDS_SIZES=NM_002303.5:3498,NM_001198689.1:2691,NM_001198688.1:2721,NM_001198687.1:2877,NM_001003680.3:2877,NM_001003679.3:2691;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=95;ESP6500_EA_AC=3906,4694;ESP6500_EA_AGE=544.9+/-384.7;ESP6500_EA_GTC=901,2104,1295;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002303.5:missense,NM_001198689.1:missense,NM_001198688.1:missense,NM_001198687.1:missense,NM_001003680.3:missense,NM_001003679.3:missense;ESP6500_GL=LEPR;ESP6500_GRCh38_POSITION=1:65592830;ESP6500_GS=43,43,43,43,43,43;ESP6500_GTC=1595,3187,1721;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002303.5:c.668A>G,NM_001198689.1:c.668A>G,NM_001198688.1:c.668A>G,NM_001198687.1:c.668A>G,NM_001003680.3:c.668A>G,NM_001003679.3:c.668A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002303.5:p.(Q223R),NM_001198689.1:p.(Q223R),NM_001198688.1:p.(Q223R),NM_001198687.1:p.(Q223R),NM_001003680.3:p.(Q223R),NM_001003679.3:p.(Q223R);ESP6500_MAF=45.4186,43.9174,49.0312;ESP6500_PH=possibly-damaging:0.828,possibly-damaging:0.828,possibly-damaging:0.828,possibly-damaging:0.828,possibly-damaging:0.828,possibly-damaging:0.828;ESP6500_TAC=6377,6629;CLINVAR_AF_ESP=0.4903;CLINVAR_ALLELEID=23560;CLINVAR_CLNDISDB=.|MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN169374|MedGen:CN239457;CLINVAR_CLNDN=LEPTIN_RECEPTOR_POLYMORPHISM|Leptin_receptor_deficiency|not_specified|Monogenic_Non-Syndromic_Obesity;CLINVAR_CLNHGVS=NC_000001.11:g.65592830A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1609|OMIM_Allelic_Variant:601007.0001|UniProtKB_(protein):P48357#VAR_002705;CLINVAR_GENEINFO=LEPR:3953;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1137101	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1239,114,0
chr1	65598610	rs3762273	A	C	1658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.32;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3762273;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_002303.5|protein_coding|7/19|c.850-50A>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|7/19|c.850-50A>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|7/19|c.850-50A>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198688.1|protein_coding|6/18|c.850-50A>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198687.1|protein_coding|6/18|c.850-50A>C||||||,C|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198689.1|protein_coding|6/18|c.850-50A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2874;p3_1000G_AF=0.573882;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=17696;p3_1000G_EAS_AF=0.873;p3_1000G_EUR_AF=0.4215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66064293;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2449,1955;ESP6500_AA_AGE=593.9+/-388.1;ESP6500_AA_GTC=679,1091,432;ESP6500_CDS_SIZES=NM_002303.5:3498,NM_001198689.1:2691,NM_001198688.1:2721,NM_001198687.1:2877,NM_001003680.3:2877,NM_001003679.3:2691;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=36;ESP6500_EA_AC=3284,5316;ESP6500_EA_AGE=476.5+/-369.4;ESP6500_EA_GTC=616,2052,1632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002303.5:intron,NM_001198689.1:intron,NM_001198688.1:intron,NM_001198687.1:intron,NM_001003680.3:intron,NM_001003679.3:intron;ESP6500_GL=LEPR;ESP6500_GRCh38_POSITION=1:65598610;ESP6500_GTC=1295,3143,2064;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002303.5:c.850-50A>C,NM_001198689.1:c.850-50A>C,NM_001198688.1:c.850-50A>C,NM_001198687.1:c.850-50A>C,NM_001003680.3:c.850-50A>C,NM_001003679.3:c.850-50A>C;ESP6500_MAF=38.186,44.3915,44.0864;ESP6500_TAC=5733,7271	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1687,138,0
chr1	65601426	rs1805134;297991	T	C	691.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.118;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.18;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805134;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|LEPR|LEPR|transcript|NM_002303.5|protein_coding|9/20|c.1029T>C|p.Ser343Ser|1214/4161|1029/3498|343/1165||,C|synonymous_variant|LOW|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|9/20|c.1029T>C|p.Ser343Ser|1214/3069|1029/2877|343/958||,C|synonymous_variant|LOW|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|9/20|c.1029T>C|p.Ser343Ser|1214/5135|1029/2691|343/896||,C|synonymous_variant|LOW|LEPR|LEPR|transcript|NM_001198688.1|protein_coding|8/19|c.1029T>C|p.Ser343Ser|1179/2935|1029/2721|343/906||,C|synonymous_variant|LOW|LEPR|LEPR|transcript|NM_001198687.1|protein_coding|8/19|c.1029T>C|p.Ser343Ser|1179/3034|1029/2877|343/958||,C|synonymous_variant|LOW|LEPR|LEPR|transcript|NM_001198689.1|protein_coding|8/19|c.1029T>C|p.Ser343Ser|1179/5100|1029/2691|343/896||;p3_1000G_AA=T|||;p3_1000G_AC=1272;p3_1000G_AF=0.253994;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=19654;p3_1000G_EAS_AF=0.0675;p3_1000G_EUR_AF=0.2227;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66067109;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1394,3012;ESP6500_AA_AGE=455.5+/-351.0;ESP6500_AA_GTC=226,942,1035;ESP6500_CDS_SIZES=NM_002303.5:3498,NM_001198689.1:2691,NM_001198688.1:2721,NM_001198687.1:2877,NM_001003680.3:2877,NM_001003679.3:2691;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=106;ESP6500_EA_AC=1776,6824;ESP6500_EA_AGE=318.3+/-313.6;ESP6500_EA_GTC=166,1444,2690;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002303.5:coding-synonymous,NM_001198689.1:coding-synonymous,NM_001198688.1:coding-synonymous,NM_001198687.1:coding-synonymous,NM_001003680.3:coding-synonymous,NM_001003679.3:coding-synonymous;ESP6500_GL=LEPR;ESP6500_GRCh38_POSITION=1:65601426;ESP6500_GTC=392,2386,3725;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002303.5:c.1029T>C,NM_001198689.1:c.1029T>C,NM_001198688.1:c.1029T>C,NM_001198687.1:c.1029T>C,NM_001003680.3:c.1029T>C,NM_001003679.3:c.1029T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002303.5:p.(S343),NM_001198689.1:p.(S343),NM_001198688.1:p.(S343),NM_001198687.1:p.(S343),NM_001003680.3:p.(S343),NM_001003679.3:p.(S343);ESP6500_MAF=20.6512,31.6387,24.3734;ESP6500_TAC=3170,9836;CLINVAR_AF_ESP=0.2437;CLINVAR_AF_EXAC=0.22866;CLINVAR_AF_TGP=0.2540;CLINVAR_ALLELEID=282944;CLINVAR_CLNDISDB=MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN239457;CLINVAR_CLNDN=Leptin_receptor_deficiency|Monogenic_Non-Syndromic_Obesity;CLINVAR_CLNHGVS=NC_000001.11:g.65601426T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1715;CLINVAR_GENEINFO=LEPR:3953;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1805134	GT:AD:DP:GQ:PL	0/1:29,27:56:99:720,0,748
chr1	65619891	rs3790439	T	A	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.83;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=0.529;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790439;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_002303.5|protein_coding|16/19|c.2396-37T>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|16/19|c.2396-37T>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|16/19|c.2396-37T>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198688.1|protein_coding|15/18|c.2396-37T>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198687.1|protein_coding|15/18|c.2396-37T>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198689.1|protein_coding|15/18|c.2396-37T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2824;p3_1000G_AF=0.563898;p3_1000G_AFR_AF=0.5779;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=15780;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.3728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66085574;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2461,1935;ESP6500_AA_GTC=704,1053,441;ESP6500_CDS_SIZES=NM_002303.5:3498,NM_001198689.1:2691,NM_001198688.1:2721,NM_001198687.1:2877,NM_001003680.3:2877,NM_001003679.3:2691;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=40;ESP6500_EA_AC=3180,5378;ESP6500_EA_GTC=614,1952,1713;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002303.5:intron,NM_001198689.1:intron,NM_001198688.1:intron,NM_001198687.1:intron,NM_001003680.3:intron,NM_001003679.3:intron;ESP6500_GL=LEPR;ESP6500_GRCh38_POSITION=1:65619891;ESP6500_GTC=1318,3005,2154;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_002303.5:c.2396-37T>A,NM_001198689.1:c.2396-37T>A,NM_001198688.1:c.2396-37T>A,NM_001198687.1:c.2396-37T>A,NM_001003680.3:c.2396-37T>A,NM_001003679.3:c.2396-37T>A;ESP6500_MAF=37.1582,44.0173,43.5464;ESP6500_TAC=5641,7313	GT:AD:DP:GQ:PL	0/1:5,13:18:99:329,0,107
chr1	65623018	rs12067936	C	A	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=-1.379;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12067936;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_002303.5|protein_coding|19/19|c.2673+37C>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003680.3|protein_coding|19/19|c.2673+37C>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding|19/19|c.2673+37C>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198688.1|protein_coding|18/18|c.2673+37C>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198687.1|protein_coding|18/18|c.2673+37C>A||||||,A|intron_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198689.1|protein_coding|18/18|c.2673+37C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2821;p3_1000G_AF=0.563299;p3_1000G_AFR_AF=0.5756;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=16061;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66088701;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2465,1941;ESP6500_AA_GTC=702,1061,440;ESP6500_CDS_SIZES=NM_002303.5:3498,NM_001198689.1:2691,NM_001198688.1:2721,NM_001198687.1:2877,NM_001003680.3:2877,NM_001003679.3:2691;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=50;ESP6500_EA_AC=3196,5400;ESP6500_EA_GTC=617,1962,1719;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002303.5:intron,NM_001198689.1:intron,NM_001198688.1:intron,NM_001198687.1:intron,NM_001003680.3:intron,NM_001003679.3:intron;ESP6500_GL=LEPR;ESP6500_GRCh38_POSITION=1:65623018;ESP6500_GTC=1319,3023,2159;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002303.5:c.2673+37C>A,NM_001198689.1:c.2673+37C>A,NM_001198688.1:c.2673+37C>A,NM_001198687.1:c.2673+37C>A,NM_001003680.3:c.2673+37C>A,NM_001003679.3:c.2673+37C>A;ESP6500_MAF=37.1801,44.0536,43.5395;ESP6500_TAC=5661,7341	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,8:15:99:0|1:65623018_C_A:267,0,188
chr1	65636574	rs1805096;298000	G	A	593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.633;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.483;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.589;SOR=1.218;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805096;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|LEPR|LEPR|transcript|NM_002303.5|protein_coding|20/20|c.3057G>A|p.Pro1019Pro|3242/4161|3057/3498|1019/1165||,A|downstream_gene_variant|MODIFIER|LEPR|LEPR|transcript|NM_001003679.3|protein_coding||c.*3405G>A|||||1146|,A|downstream_gene_variant|MODIFIER|LEPR|LEPR|transcript|NM_001198689.1|protein_coding||c.*3405G>A|||||1146|;p3_1000G_AA=A|||;p3_1000G_AC=2653;p3_1000G_AF=0.529752;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=18263;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.3797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66102257;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2073,2329;ESP6500_AA_GTC=506,1061,634;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22939635;ESP6500_CDS_SIZES=NM_002303.5:3498;ESP6500_CG=-11.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=70;ESP6500_EA_AC=3222,5370;ESP6500_EA_GTC=624,1974,1698;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002303.5:coding-synonymous;ESP6500_GL=LEPR;ESP6500_GRCh38_POSITION=1:65636574;ESP6500_GTC=1130,3035,2332;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22939635;ESP6500_HGVS_CDNA_VAR=NM_002303.5:c.3057G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002303.5:p.(P1019);ESP6500_MAF=37.5,47.0922,40.7496;ESP6500_TAC=5295,7699;CLINVAR_AF_ESP=0.4075;CLINVAR_AF_EXAC=0.45262;CLINVAR_ALLELEID=282947;CLINVAR_CLNDISDB=MedGen:C3554225,OMIM:614963,Orphanet:ORPHA179494|MedGen:CN169374|MedGen:CN239457;CLINVAR_CLNDN=Leptin_receptor_deficiency|not_specified|Monogenic_Non-Syndromic_Obesity;CLINVAR_CLNHGVS=NC_000001.11:g.65636574G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1632;CLINVAR_GENEINFO=LEPR:3953;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1805096	GT:AD:DP:GQ:PL	0/1:24,26:50:99:622,0,644
chr1	66363579	rs783039	A	G	1540.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=1.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs783039;dbSNPBuildID=86;ANN=G|splice_region_variant&intron_variant|LOW|PDE4B|PDE4B|transcript|NM_001037341.1|protein_coding|12/16|c.1284+8A>G||||||,G|splice_region_variant&intron_variant|LOW|PDE4B|PDE4B|transcript|NM_001297440.1|protein_coding|11/15|c.1008+8A>G||||||,G|splice_region_variant&intron_variant|LOW|PDE4B|PDE4B|transcript|NM_002600.3|protein_coding|12/16|c.1284+8A>G||||||,G|splice_region_variant&intron_variant|LOW|PDE4B|PDE4B|transcript|NM_001297441.1|protein_coding|11/15|c.1059+8A>G||||||,G|splice_region_variant&intron_variant|LOW|PDE4B|PDE4B|transcript|NM_001037340.2|protein_coding|10/14|c.1239+8A>G||||||,G|splice_region_variant&intron_variant|LOW|PDE4B|PDE4B|transcript|NM_001037339.2|protein_coding|5/9|c.768+8A>G||||||,G|splice_region_variant&intron_variant|LOW|PDE4B|PDE4B|transcript|NM_001297442.1|protein_coding|5/9|c.585+8A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4352;p3_1000G_AF=0.86901;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=18098;p3_1000G_EAS_AF=0.9454;p3_1000G_EUR_AF=0.7416;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66829262;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4013,393;ESP6500_AA_AGE=195.7+/-220.2;ESP6500_AA_GTC=1824,365,14;ESP6500_CDS_SIZES=NM_002600.3:2211,NM_001037341.1:2211,NM_001037340.1:2166,NM_001037339.1:1695;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=6274,2326;ESP6500_EA_AGE=390.5+/-343.3;ESP6500_EA_GTC=2294,1686,320;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002600.3:intron,NM_001037341.1:intron,NM_001037340.1:intron,NM_001037339.1:intron;ESP6500_GL=PDE4B;ESP6500_GRCh38_POSITION=1:66363579;ESP6500_GTC=4118,2051,334;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002600.3:c.1284+8A>G,NM_001037341.1:c.1284+8A>G,NM_001037340.1:c.1239+8A>G,NM_001037339.1:c.768+8A>G;ESP6500_MAF=27.0465,8.9197,20.9057;ESP6500_TAC=10287,2719	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1569,135,0
chr1	66626079	rs4655503	C	T	174.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4655503;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|MIR3117|MIR3117|transcript|NR_036060.1|pseudogene||n.-2361C>T|||||2361|,T|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_032291.3|protein_coding|2/24|c.74+169C>T||||||,T|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_001308203.1|protein_coding|3/21|c.74+169C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1216;p3_1000G_AF=0.242812;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=17809;p3_1000G_EAS_AF=0.4494;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67091762;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:203,15,0
chr1	66660431	rs12094526	A	G	495.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12094526;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_032291.3|protein_coding|7/24|c.460-82A>G||||||,G|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_001308203.1|protein_coding|7/21|c.388-10564A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3270;p3_1000G_AF=0.652955;p3_1000G_AFR_AF=0.587;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=15942;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67126114;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7618;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=737,647;ESP6500_AA_GTC=194,349,149;ESP6500_CDS_SIZES=NM_032291.2:2487;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=277;ESP6500_EA_AC=1429,1753;ESP6500_EA_GTC=324,781,486;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032291.2:intron;ESP6500_GL=SGIP1;ESP6500_GRCh38_POSITION=1:66660431;ESP6500_GTC=518,1130,635;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032291.2:c.460-82A>G;ESP6500_MAF=44.9089,46.7486,47.4376;ESP6500_TAC=2166,2400	GT:AD:DP:GQ:PL	1/1:0,15:15:45:524,45,0
chr1	66667428	rs11208941	T	C	926.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11208941;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_032291.3|protein_coding|8/24|c.472-102T>C||||||,C|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_001308203.1|protein_coding|7/21|c.388-3567T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1225;p3_1000G_AF=0.244609;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=19530;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67133111;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:955,93,0
chr1	66673194	rs35377023	AG	A	42.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.35;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35377023;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_032291.3|protein_coding|11/24|c.561-86delG||||||,A|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_001308203.1|protein_coding|9/21|c.465-86delG||||||;p3_1000G_AA=G|G|-|deletion;p3_1000G_AC=1220;p3_1000G_AF=0.24361;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=17917;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.1233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67138877;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr1	66679639	rs10889644	C	A	1802.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=1.278;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10889644;dbSNPBuildID=120;ANN=A|sequence_feature|MODERATE|SGIP1|SGIP1|modified-residue:Phosphothreonine|NM_032291.3|protein_coding|13/24|c.740-39C>A||||||,A|sequence_feature|MODERATE|SGIP1|SGIP1|modified-residue:Phosphothreonine|NM_001308203.1|protein_coding|11/21|c.644-39C>A||||||,A|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_032291.3|protein_coding|13/24|c.740-39C>A||||||,A|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_001308203.1|protein_coding|11/21|c.644-39C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3877;p3_1000G_AF=0.774161;p3_1000G_AFR_AF=0.6831;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=19389;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.5606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67145322;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2871,1535;ESP6500_AA_AGE=484.6+/-360.1;ESP6500_AA_GTC=924,1023,256;ESP6500_CDS_SIZES=NM_032291.2:2487;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=110;ESP6500_EA_AC=4913,3687;ESP6500_EA_AGE=528.0+/-381.3;ESP6500_EA_GTC=1401,2111,788;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032291.2:intron;ESP6500_GL=SGIP1;ESP6500_GRCh38_POSITION=1:66679639;ESP6500_GTC=2325,3134,1044;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_032291.2:c.740-39C>A;ESP6500_MAF=42.8721,34.8389,40.1507;ESP6500_TAC=7784,5222	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1831,174,0
chr1	66684023	rs10749764	G	C	362.94	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.701;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.35;ReadPosRankSum=-1.642;SOR=2.448;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10749764;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_032291.3|protein_coding|15/24|c.1315+1654G>C||||||,C|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_001308203.1|protein_coding|12/21|c.718+4271G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3031;p3_1000G_AF=0.605232;p3_1000G_AFR_AF=0.4319;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=17871;p3_1000G_EAS_AF=0.871;p3_1000G_EUR_AF=0.4195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67149706;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,15:17:14:1|0:66684022_TG_T:391,0,14
chr1	66689047	rs1278946069;rs139348429;rs777256352	CAA	C	606.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.672;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.83;ReadPosRankSum=-0.909;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs139348429;dbSNPBuildID=151,144,134;ANN=C|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_032291.3|protein_coding|15/24|c.1316-85_1316-84delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SGIP1|SGIP1|transcript|NM_001308203.1|protein_coding|12/21|c.719-85_719-84delAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,14:15:30:567,30,0
chr1	66801073	rs549148	T	A	922.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.84;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs549148;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|INSL5|INSL5|transcript|NM_005478.4|protein_coding|1/2|c.149A>T|p.Gln50Leu|187/718|149/408|50/135||;p3_1000G_AA=A|||;p3_1000G_AC=4363;p3_1000G_AF=0.871206;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=19756;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67266756;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3560,846;ESP6500_AA_AGE=335.5+/-303.9;ESP6500_AA_GTC=1441,678,84;ESP6500_CDS_SIZES=NM_005478.4:408;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=106;ESP6500_EA_AC=7399,1201;ESP6500_EA_AGE=243.3+/-273.0;ESP6500_EA_GTC=3191,1017,92;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005478.4:missense;ESP6500_GL=INSL5;ESP6500_GRCh38_POSITION=1:66801073;ESP6500_GS=113;ESP6500_GTC=4632,1695,176;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_005478.4:c.149A>T;ESP6500_HGVS_PROTEIN_VAR=NM_005478.4:p.(Q50L);ESP6500_MAF=13.9651,19.2011,15.7389;ESP6500_PH=benign:0.0;ESP6500_TAC=10959,2047	GT:AD:DP:GQ:PL	1/1:0,32:32:96:951,96,0
chr1	66822362	rs482082	C	T	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.583;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.5;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs482082;dbSNPBuildID=83;ANN=T|missense_variant&splice_region_variant|MODERATE|WDR78|WDR78|transcript|NM_024763.4|protein_coding|16/17|c.2495G>A|p.Arg832Gln|2551/3847|2495/2547|832/848||;p3_1000G_AA=c|||;p3_1000G_AC=2578;p3_1000G_AF=0.514776;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=14916;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.4761;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67288045;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2480,1926;ESP6500_AA_AGE=619.7+/-393.4;ESP6500_AA_GTC=713,1054,436;ESP6500_CDS_SIZES=NM_024763.4:2547;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=94;ESP6500_EA_AC=4233,4367;ESP6500_EA_AGE=570.2+/-389.3;ESP6500_EA_GTC=1054,2125,1121;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024763.4:missense-near-splice;ESP6500_GL=WDR78;ESP6500_GRCh38_POSITION=1:66822362;ESP6500_GS=43;ESP6500_GTC=1767,3179,1557;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024763.4:c.2495G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024763.4:p.(R832Q);ESP6500_MAF=49.2209,43.7131,48.3854;ESP6500_PH=benign:0.005;ESP6500_TAC=6713,6293	GT:AD:DP:GQ:PL	0/1:13,14:27:99:380,0,344
chr1	66826790	rs34718535;~rs67495325	A	AT	164.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.489;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.59;ReadPosRankSum=0.135;SOR=0.33;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34718535;dbSNPBuildID=126;ANN=AT|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_024763.4|protein_coding|15/16|c.2339+29_2339+30insA||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=2347;p3_1000G_AF=0.46865;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=18265;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.5229;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67292473;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=INDEL;ESP6500_AA_AC=1591,2675;ESP6500_AA_GTC=306,979,848;ESP6500_CDS_SIZES=NM_024763.4:2547;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=36;ESP6500_EA_AC=4170,4082;ESP6500_EA_GTC=1066,2038,1022;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024763.4:intron;ESP6500_GL=WDR78;ESP6500_GRCh38_POSITION=1:66826790;ESP6500_GTC=1372,3017,1870;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024763.4:c.2339+29_2339+30insA;ESP6500_MAF=49.4668,37.2949,46.0217;ESP6500_TAC=5761,6757	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:99:0|1:66826790_A_AT:202,0,158
chr1	66826795	rs36067642	T	A	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36067642;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_024763.4|protein_coding|15/16|c.2339+25A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2349;p3_1000G_AF=0.46905;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=17184;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.5239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67292478;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1650,2756;ESP6500_AA_AGE=633.3+/-396.0;ESP6500_AA_GTC=322,1006,875;ESP6500_CDS_SIZES=NM_024763.4:2547;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=41;ESP6500_EA_AC=4357,4243;ESP6500_EA_AGE=551.6+/-386.0;ESP6500_EA_GTC=1121,2115,1064;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024763.4:intron;ESP6500_GL=WDR78;ESP6500_GRCh38_POSITION=1:66826795;ESP6500_GTC=1443,3121,1939;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_024763.4:c.2339+25A>T;ESP6500_MAF=49.3372,37.4489,46.1864;ESP6500_TAC=6007,6999	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:99:0|1:66826790_A_AT:195,0,160
chr1	66835835	rs3820344	T	G	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.18;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820344;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|WDR78|WDR78|transcript|NM_207014.2|protein_coding||c.*1818A>C|||||1764|,G|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_024763.4|protein_coding|10/16|c.1582-58A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=197;p3_1000G_AF=0.0393371;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=17630;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67301518;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:111,0,121
chr1	66840750	rs11208967	C	T	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.23;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11208967;dbSNPBuildID=120;ANN=T|sequence_feature|MODERATE|WDR78|WDR78|compositionally-biased-region:Glu-rich|NM_024763.4|protein_coding|8/16|c.1292-79G>A||||||,T|sequence_feature|MODERATE|WDR78|WDR78|compositionally-biased-region:Glu-rich|NM_207014.2|protein_coding|8/9|c.1292-79G>A||||||,T|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_024763.4|protein_coding|8/16|c.1292-79G>A||||||,T|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_207014.2|protein_coding|8/9|c.1292-79G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1584;p3_1000G_AF=0.316294;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=19402;p3_1000G_EAS_AF=0.5466;p3_1000G_EUR_AF=0.174;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67306433;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:136,0,222
chr1	66847566	rs57010209	G	A	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.36;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.295;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=-0.793;SOR=0.439;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57010209;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|WDR78|WDR78|transcript|NM_024763.4|protein_coding|8/17|c.1209C>T|p.Asp403Asp|1265/3847|1209/2547|403/848||,A|synonymous_variant|LOW|WDR78|WDR78|transcript|NM_207014.2|protein_coding|8/10|c.1209C>T|p.Asp403Asp|1265/1748|1209/1638|403/545||;p3_1000G_AA=G|||;p3_1000G_AC=1108;p3_1000G_AF=0.221246;p3_1000G_AFR_AF=0.0613;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=17566;p3_1000G_EAS_AF=0.5466;p3_1000G_EUR_AF=0.0338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67313249;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=285,4121;ESP6500_AA_AGE=154.8+/-188.1;ESP6500_AA_GTC=9,267,1927;ESP6500_CDS_SIZES=NM_207014.2:1638,NM_024763.4:2547;ESP6500_CG=-0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=75;ESP6500_EA_AC=298,8302;ESP6500_EA_AGE=107.8+/-168.5;ESP6500_EA_GTC=8,282,4010;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207014.2:coding-synonymous,NM_024763.4:coding-synonymous;ESP6500_GL=WDR78;ESP6500_GRCh38_POSITION=1:66847566;ESP6500_GTC=17,549,5937;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207014.2:c.1209C>T,NM_024763.4:c.1209C>T;ESP6500_HGVS_PROTEIN_VAR=NM_207014.2:p.(D403),NM_024763.4:p.(D403);ESP6500_MAF=3.4651,6.4685,4.4825;ESP6500_TAC=583,12423	GT:AD:DP:GQ:PL	0/1:31,13:44:99:264,0,824
chr1	66848110	rs79498460	G	A	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.167;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=4.102;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=0.62;SOR=2.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79498460;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_024763.4|protein_coding|7/16|c.1097-432C>T||||||,A|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_207014.2|protein_coding|7/9|c.1097-432C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=665;p3_1000G_AF=0.132788;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=19428;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0.2028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67313793;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,11:18:99:401,0,241
chr1	66918956	rs6657065	T	G	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6657065;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_024763.4|protein_coding|1/16|c.170+5706A>C||||||,G|intron_variant|MODIFIER|WDR78|WDR78|transcript|NM_207014.2|protein_coding|1/9|c.170+5706A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3153;p3_1000G_AF=0.629593;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=18908;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67384639;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:29:71,0,29
chr1	66924733	rs3008858	G	C	946.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.305;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.878;SOR=0.679;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3008858;dbSNPBuildID=101;ANN=C|missense_variant|MODERATE|WDR78|WDR78|transcript|NM_024763.4|protein_coding|1/17|c.99C>G|p.Cys33Trp|155/3847|99/2547|33/848||,C|missense_variant|MODERATE|WDR78|WDR78|transcript|NM_207014.2|protein_coding|1/10|c.99C>G|p.Cys33Trp|155/1748|99/1638|33/545||,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding||c.-296G>C|||||162|,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001278215.1|protein_coding||c.-4171G>C|||||162|,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding||c.-4171G>C|||||162|,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding||c.-296G>C|||||162|,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding||c.-4171G>C|||||162|,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding||c.-4171G>C|||||162|,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding||c.-21464G>C|||||162|,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding||c.-33335G>C|||||162|,C|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding||c.-4171G>C|||||162|;p3_1000G_AA=C|||;p3_1000G_AC=4196;p3_1000G_AF=0.837859;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=13072;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.7326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67390416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3699,707;ESP6500_AA_AGE=296.1+/-284.1;ESP6500_AA_GTC=1565,569,69;ESP6500_CDS_SIZES=NM_207014.2:1638,NM_024763.4:2547;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=96;ESP6500_EA_AC=6295,2305;ESP6500_EA_AGE=387.3+/-342.2;ESP6500_EA_GTC=2322,1651,327;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207014.2:missense,NM_024763.4:missense;ESP6500_GL=WDR78;ESP6500_GRCh38_POSITION=1:66924733;ESP6500_GS=215,215;ESP6500_GTC=3887,2220,396;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_207014.2:c.99C>G,NM_024763.4:c.99C>G;ESP6500_HGVS_PROTEIN_VAR=NM_207014.2:p.(C33W),NM_024763.4:p.(C33W);ESP6500_MAF=26.8023,16.0463,23.1585;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9994,3012	GT:AD:DP:GQ:PL	0/1:37,41:78:99:975,0,921
chr1	66924785	rs1886686	C	G	1045.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.329;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=1.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.833;SOR=0.464;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1886686;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|WDR78|WDR78|transcript|NM_024763.4|protein_coding|1/17|c.47G>C|p.Gly16Ala|103/3847|47/2547|16/848||,G|missense_variant|MODERATE|WDR78|WDR78|transcript|NM_207014.2|protein_coding|1/10|c.47G>C|p.Gly16Ala|103/1748|47/1638|16/545||,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding||c.-244C>G|||||110|,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001278215.1|protein_coding||c.-4119C>G|||||110|,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding||c.-4119C>G|||||110|,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding||c.-244C>G|||||110|,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding||c.-4119C>G|||||110|,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding||c.-4119C>G|||||110|,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding||c.-21412C>G|||||110|,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding||c.-33283C>G|||||110|,G|upstream_gene_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding||c.-4119C>G|||||110|;p3_1000G_AA=G|||;p3_1000G_AC=4220;p3_1000G_AF=0.842652;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=13846;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.7336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67390468;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3751,655;ESP6500_AA_AGE=280.5+/-275.4;ESP6500_AA_GTC=1609,533,61;ESP6500_CDS_SIZES=NM_207014.2:1638,NM_024763.4:2547;ESP6500_CG=2.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=86;ESP6500_EA_AC=6295,2305;ESP6500_EA_AGE=386.5+/-341.9;ESP6500_EA_GTC=2322,1651,327;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207014.2:missense,NM_024763.4:missense;ESP6500_GL=WDR78;ESP6500_GRCh38_POSITION=1:66924785;ESP6500_GS=60,60;ESP6500_GTC=3931,2184,388;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_207014.2:c.47G>C,NM_024763.4:c.47G>C;ESP6500_HGVS_PROTEIN_VAR=NM_207014.2:p.(G16A),NM_024763.4:p.(G16A);ESP6500_MAF=26.8023,14.8661,22.7587;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10046,2960	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1074,0,852
chr1	66930539	rs3008861	T	G	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3008861;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding|2/13|c.168+4297T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001278215.1|protein_coding|3/4|c.60+1576T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding|3/15|c.60+1576T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding|2/14|c.168+4297T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding|3/14|c.60+1576T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding|3/15|c.60+1576T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding|3/14|c.-73+1576T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding|2/13|c.-35+4297T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding|3/14|c.60+1576T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077701.2|protein_coding|1/12|c.9+139T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077704.2|protein_coding|1/13|c.9+139T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4404;p3_1000G_AF=0.879393;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=11572;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67396222;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:67:67,0,139
chr1	66940270	rs1235091150	CTT	C	94.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.712;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding|3/13|c.193+238_193+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001278215.1|protein_coding|4/4|c.85+238_85+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding|4/15|c.85+238_85+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding|3/14|c.193+238_193+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding|4/14|c.85+238_85+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding|4/15|c.85+238_85+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding|4/14|c.-48+238_-48+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding|3/13|c.-10+238_-10+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding|4/14|c.85+238_85+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077701.2|protein_coding|2/12|c.34+238_34+239delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077704.2|protein_coding|2/13|c.34+238_34+239delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,5:7:18:132,0,18
chr1	66959628	rs2985794	T	G	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.038;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.063;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2985794;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding|6/13|c.635-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding|7/15|c.527-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding|6/14|c.635-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding|7/14|c.527-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding|7/15|c.527-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding|7/14|c.395-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding|5/13|c.287-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding|7/14|c.527-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077701.2|protein_coding|5/12|c.476-51T>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077704.2|protein_coding|5/13|c.476-51T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4201;p3_1000G_AF=0.838858;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=13539;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.7366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67425311;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3028,544;ESP6500_AA_GTC=1295,438,53;ESP6500_CDS_SIZES=NM_020948.3:1590,NM_001146113.1:1113,NM_001146112.1:1458,NM_001146111.1:1413,NM_001146110.1:1590,NM_001077704.2:1302,NM_001077703.2:1461,NM_001077702.2:1353,NM_001077701.2:1539,NM_001077700.2:1698;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=36;ESP6500_EA_AC=5922,2102;ESP6500_EA_GTC=2205,1512,295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020948.3:intron,NM_001146113.1:intron,NM_001146112.1:intron,NM_001146111.1:intron,NM_001146110.1:intron,NM_001077704.2:intron,NM_001077703.2:intron,NM_001077702.2:intron,NM_001077701.2:intron,NM_001077700.2:intron;ESP6500_GL=MIER1;ESP6500_GRCh38_POSITION=1:66959628;ESP6500_GTC=3500,1950,348;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_020948.3:c.527-51T>G,NM_001146113.1:c.287-51T>G,NM_001146112.1:c.395-51T>G,NM_001146111.1:c.527-51T>G,NM_001146110.1:c.527-51T>G,NM_001077704.2:c.476-51T>G,NM_001077703.2:c.635-51T>G,NM_001077702.2:c.527-51T>G,NM_001077701.2:c.476-51T>G,NM_001077700.2:c.635-51T>G;ESP6500_MAF=26.1964,15.2296,22.8182;ESP6500_TAC=8950,2646	GT:AD:DP:GQ:PL	0/1:12,11:23:99:256,0,288
chr1	66970763	rs4553158	A	G	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.052;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=-1.496;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4553158;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding|8/13|c.773-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding|9/15|c.665-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding|8/14|c.773-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding|9/14|c.665-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding|9/15|c.665-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding|9/14|c.533-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding|7/13|c.425-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding|9/14|c.665-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077701.2|protein_coding|7/12|c.614-45A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077704.2|protein_coding|7/13|c.614-45A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=425;p3_1000G_AF=0.0848642;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=18969;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.1829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67436446;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=119,3485;ESP6500_AA_GTC=6,107,1689;ESP6500_CDS_SIZES=NM_020948.3:1590,NM_001146113.1:1113,NM_001146112.1:1458,NM_001146111.1:1413,NM_001146110.1:1590,NM_001077704.2:1302,NM_001077703.2:1461,NM_001077702.2:1353,NM_001077701.2:1539,NM_001077700.2:1698;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=26;ESP6500_EA_AC=1423,6709;ESP6500_EA_GTC=135,1153,2778;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020948.3:intron,NM_001146113.1:intron,NM_001146112.1:intron,NM_001146111.1:intron,NM_001146110.1:intron,NM_001077704.2:intron,NM_001077703.2:intron,NM_001077702.2:intron,NM_001077701.2:intron,NM_001077700.2:intron;ESP6500_GL=MIER1;ESP6500_GRCh38_POSITION=1:66970763;ESP6500_GTC=141,1260,4467;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020948.3:c.665-45A>G,NM_001146113.1:c.425-45A>G,NM_001146112.1:c.533-45A>G,NM_001146111.1:c.665-45A>G,NM_001146110.1:c.665-45A>G,NM_001077704.2:c.614-45A>G,NM_001077703.2:c.773-45A>G,NM_001077702.2:c.665-45A>G,NM_001077701.2:c.614-45A>G,NM_001077700.2:c.773-45A>G;ESP6500_MAF=17.4988,3.3019,13.1391;ESP6500_TAC=1542,10194	GT:AD:DP:GQ:PL	0/1:12,6:18:99:132,0,314
chr1	66972852	rs12131222	A	T	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.856;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.837;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-1.058;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12131222;dbSNPBuildID=120;ANN=T|sequence_feature|LOW|MIER1|MIER1|domain:SANT|NM_001077700.2|protein_coding|10/13|c.1007-45A>T||||||,T|sequence_feature|LOW|MIER1|MIER1|domain:SANT|NM_001077702.2|protein_coding|11/15|c.899-45A>T||||||,T|sequence_feature|LOW|MIER1|MIER1|domain:SANT|NM_001077703.2|protein_coding|10/14|c.1007-45A>T||||||,T|sequence_feature|LOW|MIER1|MIER1|domain:SANT|NM_001146111.1|protein_coding|11/15|c.899-45A>T||||||,T|sequence_feature|LOW|MIER1|MIER1|domain:SANT|NM_020948.3|protein_coding|11/14|c.899-45A>T||||||,T|sequence_feature|LOW|MIER1|MIER1|domain:SANT|NM_001077701.2|protein_coding|9/12|c.848-45A>T||||||,T|sequence_feature|LOW|MIER1|MIER1|domain:SANT|NM_001077704.2|protein_coding|9/13|c.848-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding|10/13|c.1007-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding|11/15|c.899-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding|10/14|c.1007-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding|11/14|c.899-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding|11/15|c.899-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding|11/14|c.767-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding|9/13|c.659-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding|11/14|c.899-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077701.2|protein_coding|9/12|c.848-45A>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077704.2|protein_coding|9/13|c.848-45A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=809;p3_1000G_AF=0.161542;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=18774;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67438535;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=549,3085;ESP6500_AA_GTC=56,437,1324;ESP6500_CDS_SIZES=NM_020948.3:1590,NM_001146113.1:1113,NM_001146112.1:1458,NM_001146111.1:1413,NM_001146110.1:1590,NM_001077704.2:1302,NM_001077703.2:1461,NM_001077702.2:1353,NM_001077701.2:1539,NM_001077700.2:1698;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=48;ESP6500_EA_AC=2157,5989;ESP6500_EA_GTC=309,1539,2225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020948.3:intron,NM_001146113.1:intron,NM_001146112.1:intron,NM_001146111.1:intron,NM_001146110.1:intron,NM_001077704.2:intron,NM_001077703.2:intron,NM_001077702.2:intron,NM_001077701.2:intron,NM_001077700.2:intron;ESP6500_GL=MIER1;ESP6500_GRCh38_POSITION=1:66972852;ESP6500_GTC=365,1976,3549;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020948.3:c.899-45A>T,NM_001146113.1:c.659-45A>T,NM_001146112.1:c.767-45A>T,NM_001146111.1:c.899-45A>T,NM_001146110.1:c.899-45A>T,NM_001077704.2:c.848-45A>T,NM_001077703.2:c.1007-45A>T,NM_001077702.2:c.899-45A>T,NM_001077701.2:c.848-45A>T,NM_001077700.2:c.1007-45A>T;ESP6500_MAF=26.4793,15.1073,22.9711;ESP6500_TAC=2706,9074	GT:AD:DP:GQ:PL	0/1:13,9:22:99:210,0,400
chr1	66976527	rs11208978	C	T	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.058;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.734;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11208978;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding|11/13|c.1102-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding|12/15|c.994-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding|11/14|c.1102-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding|12/14|c.994-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding|12/15|c.994-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding|12/14|c.862-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding|10/13|c.754-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding|12/14|c.994-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077701.2|protein_coding|10/12|c.943-68C>T||||||,T|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077704.2|protein_coding|10/13|c.943-68C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=605;p3_1000G_AF=0.120807;p3_1000G_AFR_AF=0.0719;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=16287;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67442210;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:186,0,300
chr1	66976592	rs11208979	C	T	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.534;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.552;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11208979;dbSNPBuildID=120;ANN=T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001077700.2|protein_coding|11/13|c.1102-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001077702.2|protein_coding|12/15|c.994-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001077703.2|protein_coding|11/14|c.1102-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001146110.1|protein_coding|12/14|c.994-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001146111.1|protein_coding|12/15|c.994-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001146112.1|protein_coding|12/14|c.862-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001146113.1|protein_coding|10/13|c.754-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_020948.3|protein_coding|12/14|c.994-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001077701.2|protein_coding|10/12|c.943-3C>T||||||,T|splice_region_variant&intron_variant|LOW|MIER1|MIER1|transcript|NM_001077704.2|protein_coding|10/13|c.943-3C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=810;p3_1000G_AF=0.161741;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=17185;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67442275;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=569,3147;ESP6500_AA_GTC=55,459,1344;ESP6500_CDS_SIZES=NM_020948.3:1590,NM_001146113.1:1113,NM_001146112.1:1458,NM_001146111.1:1413,NM_001146110.1:1590,NM_001077704.2:1302,NM_001077703.2:1461,NM_001077702.2:1353,NM_001077701.2:1539,NM_001077700.2:1698;ESP6500_CG=-10.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=96;ESP6500_EA_AC=2175,6045;ESP6500_EA_GTC=308,1559,2243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020948.3:intron,NM_001146113.1:intron,NM_001146112.1:intron,NM_001146111.1:intron,NM_001146110.1:intron,NM_001077704.2:intron,NM_001077703.2:intron,NM_001077702.2:intron,NM_001077701.2:intron,NM_001077700.2:intron;ESP6500_GL=MIER1;ESP6500_GRCh38_POSITION=1:66976592;ESP6500_GTC=363,2018,3587;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020948.3:c.994-3C>T,NM_001146113.1:c.754-3C>T,NM_001146112.1:c.862-3C>T,NM_001146111.1:c.994-3C>T,NM_001146110.1:c.994-3C>T,NM_001077704.2:c.943-3C>T,NM_001077703.2:c.1102-3C>T,NM_001077702.2:c.994-3C>T,NM_001077701.2:c.943-3C>T,NM_001077700.2:c.1102-3C>T;ESP6500_MAF=26.4599,15.3122,22.9893;ESP6500_TAC=2744,9192	GT:AD:DP:GQ:PL	0/1:19,22:41:99:521,0,538
chr1	66981767	rs12039172	A	G	83.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.95;ReadPosRankSum=-1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12039172;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077700.2|protein_coding|12/13|c.1230-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077702.2|protein_coding|13/15|c.1122-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077703.2|protein_coding|12/14|c.1230-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146110.1|protein_coding|13/14|c.1122-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146111.1|protein_coding|13/15|c.1122-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146112.1|protein_coding|13/14|c.990-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001146113.1|protein_coding|11/13|c.882-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_020948.3|protein_coding|13/14|c.1122-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077701.2|protein_coding|11/12|c.1071-12A>G||||||,G|intron_variant|MODIFIER|MIER1|MIER1|transcript|NM_001077704.2|protein_coding|11/13|c.1071-12A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=786;p3_1000G_AF=0.156949;p3_1000G_AFR_AF=0.1392;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=15080;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67447450;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=514,3058;ESP6500_AA_GTC=51,412,1323;ESP6500_CDS_SIZES=NM_020948.3:1590,NM_001146113.1:1113,NM_001146112.1:1458,NM_001146111.1:1413,NM_001146110.1:1590,NM_001077704.2:1302,NM_001077703.2:1461,NM_001077702.2:1353,NM_001077701.2:1539,NM_001077700.2:1698;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=14;ESP6500_EA_AC=2177,5943;ESP6500_EA_GTC=326,1525,2209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020948.3:intron,NM_001146113.1:intron,NM_001146112.1:intron,NM_001146111.1:intron,NM_001146110.1:intron,NM_001077704.2:intron,NM_001077703.2:intron,NM_001077702.2:intron,NM_001077701.2:intron,NM_001077700.2:intron;ESP6500_GL=MIER1;ESP6500_GRCh38_POSITION=1:66981767;ESP6500_GTC=377,1937,3532;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020948.3:c.1122-12A>G,NM_001146113.1:c.882-12A>G,NM_001146112.1:c.990-12A>G,NM_001146111.1:c.1122-12A>G,NM_001146110.1:c.1122-12A>G,NM_001077704.2:c.1071-12A>G,NM_001077703.2:c.1230-12A>G,NM_001077702.2:c.1122-12A>G,NM_001077701.2:c.1071-12A>G,NM_001077700.2:c.1230-12A>G;ESP6500_MAF=26.8103,14.3897,23.0157;ESP6500_TAC=2691,9001	GT:AD:DP:GQ:PL	0/1:1,3:4:24:112,0,24
chr1	67021436	rs2065002	C	A	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.18;ReadPosRankSum=1.03;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2065002;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|SLC35D1|SLC35D1|transcript|NM_015139.2|protein_coding|9/11|c.797+99G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3166;p3_1000G_AF=0.632188;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=17820;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67487119;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,3:15:76:76,0,320
chr1	67047220	rs1024229	G	T	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.121;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.19;ReadPosRankSum=0.209;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1024229;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SLC35D1|SLC35D1|transcript|NM_015139.2|protein_coding|7/11|c.636+45C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3553;p3_1000G_AF=0.709465;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=17020;p3_1000G_EAS_AF=0.6389;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67512903;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3399,1005;ESP6500_AA_AGE=362.4+/-316.1;ESP6500_AA_GTC=1321,757,124;ESP6500_CDS_SIZES=NM_015139.2:1068;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=94;ESP6500_EA_AC=5560,3038;ESP6500_EA_AGE=456.9+/-364.2;ESP6500_EA_GTC=1812,1936,551;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015139.2:intron;ESP6500_GL=SLC35D1;ESP6500_GRCh38_POSITION=1:67047220;ESP6500_GTC=3133,2693,675;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015139.2:c.636+45C>A;ESP6500_MAF=35.3338,22.8202,31.0952;ESP6500_TAC=8959,4043	GT:AD:DP:GQ:PL	0/1:22,13:35:99:280,0,618
chr1	67047237	rs1024230	A	C	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.91;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-0.034;SOR=0.772;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1024230;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SLC35D1|SLC35D1|transcript|NM_015139.2|protein_coding|7/11|c.636+28T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3553;p3_1000G_AF=0.709465;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=16987;p3_1000G_EAS_AF=0.6389;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67512920;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3396,1010;ESP6500_AA_AGE=359.6+/-314.9;ESP6500_AA_GTC=1321,754,128;ESP6500_CDS_SIZES=NM_015139.2:1068;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=113;ESP6500_EA_AC=5552,3048;ESP6500_EA_AGE=454.0+/-363.4;ESP6500_EA_GTC=1813,1926,561;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015139.2:intron;ESP6500_GL=SLC35D1;ESP6500_GRCh38_POSITION=1:67047237;ESP6500_GTC=3134,2680,689;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015139.2:c.636+28T>G;ESP6500_MAF=35.4419,22.9233,31.201;ESP6500_TAC=8948,4058	GT:AD:DP:GQ:PL	0/1:25,15:40:99:335,0,569
chr1	67049626	rs2755257	C	T	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2755257;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SLC35D1|SLC35D1|transcript|NM_015139.2|protein_coding|6/11|c.533+156G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2773;p3_1000G_AF=0.553714;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=16017;p3_1000G_EAS_AF=0.6389;p3_1000G_EUR_AF=0.5915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67515309;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:63:63,0,65
chr1	67093056	rs6588237	C	T	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6588237;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|8/8|c.1152G>A|p.Thr384Thr|1297/2177|1152/1203|384/400||,T|3_prime_UTR_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|9/9|c.*524G>A|||||524|,T|non_coding_transcript_exon_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|10/10|n.1466G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4611;p3_1000G_AF=0.920727;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=16133;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.8141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67558739;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4030,374;ESP6500_AA_AGE=178.7+/-207.4;ESP6500_AA_GTC=1852,326,24;ESP6500_CDS_SIZES=NM_001013674.1:1203;ESP6500_CG=-4.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=47;ESP6500_EA_AC=7367,1227;ESP6500_EA_AGE=240.6+/-271.2;ESP6500_EA_GTC=3163,1041,93;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013674.1:coding-synonymous;ESP6500_GL=C1orf141;ESP6500_GRCh38_POSITION=1:67093056;ESP6500_GTC=5015,1367,117;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001013674.1:c.1152G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001013674.1:p.(T384);ESP6500_MAF=14.2774,8.4923,12.3173;ESP6500_TAC=11397,1601	GT:AD:DP:GQ:PL	0/1:3,4:7:71:126,0,71
chr1	67095214	rs10889653	A	G	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.32;ReadPosRankSum=1.42;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10889653;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|7/7|c.603+21T>C||||||,G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|8/8|c.629+1038T>C||||||,G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|9/9|n.917+1038T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4669;p3_1000G_AF=0.932308;p3_1000G_AFR_AF=0.9644;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=18350;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.8141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67560897;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4155,249;ESP6500_AA_AGE=145.0+/-179.8;ESP6500_AA_GTC=1968,219,15;ESP6500_CDS_SIZES=NM_001013674.1:1203;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=85;ESP6500_EA_AC=7367,1231;ESP6500_EA_AGE=247.4+/-275.4;ESP6500_EA_GTC=3161,1045,93;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013674.1:intron;ESP6500_GL=C1orf141;ESP6500_GRCh38_POSITION=1:67095214;ESP6500_GTC=5129,1264,108;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001013674.1:c.603+21T>C;ESP6500_MAF=14.3173,5.654,11.3829;ESP6500_TAC=11522,1480	GT:AD:DP:GQ:PL	0/1:13,5:18:99:106,0,347
chr1	67095273	rs11208997	C	T	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.986;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.444;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=1.36;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11208997;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|7/8|c.565G>A|p.Val189Ile|710/2177|565/1203|189/400||,T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|8/8|c.629+979G>A||||||,T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|9/9|n.917+979G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4700;p3_1000G_AF=0.938498;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=19194;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.8141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67560956;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4248,154;ESP6500_AA_AGE=106.0+/-144.5;ESP6500_AA_GTC=2054,140,7;ESP6500_CDS_SIZES=NM_001013674.1:1203;ESP6500_CG=4.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=126;ESP6500_EA_AC=7370,1230;ESP6500_EA_AGE=247.4+/-275.4;ESP6500_EA_GTC=3163,1044,93;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001013674.1:missense;ESP6500_GL=C1orf141;ESP6500_GRCh38_POSITION=1:67095273;ESP6500_GS=29;ESP6500_GTC=5217,1184,100;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001013674.1:c.565G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001013674.1:p.(V189I);ESP6500_MAF=14.3023,3.4984,10.6445;ESP6500_PH=benign:0.0;ESP6500_TAC=11618,1384	GT:AD:DP:GQ:PL	0/1:19,12:31:99:313,0,465
chr1	67096423	rs6670381	G	T	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.385;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6670381;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|5/7|c.347-102C>A||||||,T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|7/8|c.560-102C>A||||||,T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|8/9|n.848-102C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3551;p3_1000G_AF=0.709065;p3_1000G_AFR_AF=0.5446;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=18016;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.6809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67562106;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:99:100,0,102
chr1	67103141	rs1885276	G	T	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.319;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1885276;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|5/7|c.347-6820C>A||||||,T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|7/8|c.559+97C>A||||||,T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|8/9|n.847+97C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4604;p3_1000G_AF=0.919329;p3_1000G_AFR_AF=0.9183;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=17797;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.8131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67568824;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:95:95,0,133
chr1	67111684	rs6588240	A	T	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.6;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.775;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.672;SOR=1.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6588240;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|5/7|c.346+3668T>A||||||,T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|5/8|c.347-40T>A||||||,T|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|6/9|n.635-40T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4033;p3_1000G_AF=0.805312;p3_1000G_AFR_AF=0.6641;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=15721;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.7624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67577367;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,16:26:99:465,0,193
chr1	67113703	rs2144656	A	G	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.192;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.095;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2144656;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|5/7|c.346+1649T>C||||||,G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|5/8|c.346+1649T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|6/10|n.545T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=4597;p3_1000G_AF=0.917931;p3_1000G_AFR_AF=0.913;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=18866;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.8131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67579386;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,20:41:99:476,0,595
chr1	67125664	rs6691094	A	G	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.517;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6691094;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|4/7|c.233+88T>C||||||,G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|4/8|c.233+88T>C||||||,G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|4/9|n.378+88T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3064;p3_1000G_AF=0.611821;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=17211;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67591347;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,7:19:99:175,0,303
chr1	67125928	rs755361837	GAAA	G	81.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.126;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.253;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|3/7|c.76-22_76-20delTTT||||||,G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|3/8|c.76-22_76-20delTTT||||||,G|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|3/9|n.221-22_221-20delTTT||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:36:119,0,36
chr1	67125977	rs4655520	G	A	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=-1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4655520;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276351.1|protein_coding|3/7|c.76-68C>T||||||,A|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NM_001276352.1|protein_coding|3/8|c.76-68C>T||||||,A|intron_variant|MODIFIER|C1orf141|C1orf141|transcript|NR_075077.1|pseudogene|3/9|n.221-68C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3849;p3_1000G_AF=0.76857;p3_1000G_AFR_AF=0.5318;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=14950;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.7763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67591660;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:30:101,0,30
chr1	67169792	rs10889664	C	T	167.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10889664;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|IL23R|IL23R|transcript|NM_144701.2|protein_coding|3/10|c.367+154C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1617;p3_1000G_AF=0.322883;p3_1000G_AFR_AF=0.1808;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=15189;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67635475;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:196,18,0
chr1	67182777	rs6687620	T	C	676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.23;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6687620;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|IL23R|IL23R|transcript|NM_144701.2|protein_coding|3/10|c.368-59T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4768;p3_1000G_AF=0.952077;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=22982;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67648460;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:705,63,0
chr1	67219704	rs7530511	T	C	1306.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.666;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7530511;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|IL23R|IL23R|transcript|NM_144701.2|protein_coding|7/11|c.929T>C|p.Leu310Pro|1014/2814|929/1890|310/629||;p3_1000G_AA=C|||;p3_1000G_AC=4387;p3_1000G_AF=0.875998;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=18646;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.8569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67685387;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3361,1045;ESP6500_AA_AGE=384.4+/-325.3;ESP6500_AA_GTC=1287,787,129;ESP6500_CDS_SIZES=NM_144701.2:1890;ESP6500_CG=4.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=113;ESP6500_EA_AC=7486,1114;ESP6500_EA_AGE=231.4+/-265.4;ESP6500_EA_GTC=3251,984,65;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144701.2:missense;ESP6500_GL=IL23R;ESP6500_GRCh38_POSITION=1:67219704;ESP6500_GS=98;ESP6500_GTC=4538,1771,194;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144701.2:c.929T>C;ESP6500_HGVS_PROTEIN_VAR=NM_144701.2:p.(L310P);ESP6500_MAF=12.9535,23.7177,16.6;ESP6500_PH=benign:0.0;ESP6500_TAC=10847,2159	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1335,123,0
chr1	67219760	rs7518660	G	A	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.558;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=2.04;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7518660;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|IL23R|IL23R|transcript|NM_144701.2|protein_coding|7/10|c.955+30G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2059;p3_1000G_AF=0.411142;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=17429;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.4563;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67685443;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2169,2237;ESP6500_AA_AGE=544.5+/-376.5;ESP6500_AA_GTC=541,1087,575;ESP6500_CDS_SIZES=NM_144701.2:1890;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=58;ESP6500_EA_AC=3951,4647;ESP6500_EA_AGE=538.3+/-383.4;ESP6500_EA_GTC=928,2095,1276;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144701.2:intron;ESP6500_GL=IL23R;ESP6500_GRCh38_POSITION=1:67219760;ESP6500_GTC=1469,3182,1851;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144701.2:c.955+30G>A;ESP6500_MAF=45.9525,49.2283,47.0624;ESP6500_TAC=6120,6884	GT:AD:DP:GQ:PL	0/1:11,7:18:99:219,0,319
chr1	67329636	rs1495963	T	C	555.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1495963;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001559.2|protein_coding|6/16|c.714T>C|p.Ser238Ser|1354/4040|714/2589|238/862||,C|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001258214.1|protein_coding|7/16|c.714T>C|p.Ser238Ser|1442/4028|714/1980|238/659||,C|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001258215.1|protein_coding|6/14|c.714T>C|p.Ser238Ser|1354/3782|714/2331|238/776||,C|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001258216.1|protein_coding|6/14|c.714T>C|p.Ser238Ser|1354/3849|714/1908|238/635||,C|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001319233.1|protein_coding|7/16|c.714T>C|p.Ser238Ser|1438/4024|714/1980|238/659||,C|non_coding_transcript_exon_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047583.1|pseudogene|6/14|n.1354T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047584.1|pseudogene|6/17|n.1354T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4258;p3_1000G_AF=0.85024;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=16673;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.9771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67795319;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3367,1039;ESP6500_AA_AGE=383.7+/-325.0;ESP6500_AA_GTC=1292,783,128;ESP6500_CDS_SIZES=NM_001559.2:2589,NM_001258216.1:1908,NM_001258215.1:2331,NM_001258214.1:1980;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=128;ESP6500_EA_AC=8473,127;ESP6500_EA_AGE=62.8+/-124.8;ESP6500_EA_GTC=4173,127,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001559.2:coding-synonymous,NM_001258216.1:coding-synonymous,NM_001258215.1:coding-synonymous,NM_001258214.1:coding-synonymous;ESP6500_GL=IL12RB2;ESP6500_GRCh38_POSITION=1:67329636;ESP6500_GTC=5465,910,128;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001559.2:c.714T>C,NM_001258216.1:c.714T>C,NM_001258215.1:c.714T>C,NM_001258214.1:c.714T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001559.2:p.(S238),NM_001258216.1:p.(S238),NM_001258215.1:p.(S238),NM_001258214.1:p.(S238);ESP6500_MAF=1.4767,23.5815,8.9651;ESP6500_TAC=11840,1166	GT:AD:DP:GQ:PL	1/1:0,19:19:57:584,57,0
chr1	67330575	rs11463498;rs201404369;rs397822755	G	GT	26.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.35;ReadPosRankSum=1.04;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201404369;dbSNPBuildID=137,137,138;ANN=GT|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001559.2|protein_coding|6/15|c.808-73dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258214.1|protein_coding|7/15|c.808-73dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258215.1|protein_coding|6/13|c.808-73dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258216.1|protein_coding|6/13|c.808-73dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001319233.1|protein_coding|7/15|c.808-73dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047583.1|pseudogene|6/13|n.1448-73dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047584.1|pseudogene|6/16|n.1448-73dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,3:5:26:64,0,26
chr1	67386458	rs12138812	A	G	544.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.81;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12138812;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001559.2|protein_coding|13/15|c.1856-121A>G||||||,G|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258214.1|protein_coding|14/15|c.1856-121A>G||||||,G|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258215.1|protein_coding|11/13|c.1598-121A>G||||||,G|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258216.1|protein_coding|13/13|c.1855+6335A>G||||||,G|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001319233.1|protein_coding|14/15|c.1856-121A>G||||||,G|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047583.1|pseudogene|12/13|n.2337-3571A>G||||||,G|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047584.1|pseudogene|13/16|n.2496-121A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3170;p3_1000G_AF=0.632987;p3_1000G_AFR_AF=0.5212;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=17920;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.6968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67852141;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:573,42,0
chr1	67386652	rs2228420;rs4297265	G	A	1834.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=1.392;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228420;dbSNPBuildID=105;ANN=A|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001559.2|protein_coding|14/16|c.1929G>A|p.Thr643Thr|2569/4040|1929/2589|643/862||,A|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001258214.1|protein_coding|15/16|c.1929G>A|p.Thr643Thr|2657/4028|1929/1980|643/659||,A|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001258215.1|protein_coding|12/14|c.1671G>A|p.Thr557Thr|2311/3782|1671/2331|557/776||,A|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001319233.1|protein_coding|15/16|c.1929G>A|p.Thr643Thr|2653/4024|1929/1980|643/659||,A|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258216.1|protein_coding|13/13|c.1855+6529G>A||||||,A|intron_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047583.1|pseudogene|12/13|n.2337-3377G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047584.1|pseudogene|14/17|n.2569G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2071;p3_1000G_AF=0.413538;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=16651;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.5845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67852335;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1023,3383;ESP6500_AA_AGE=377.8+/-322.6;ESP6500_AA_GTC=127,769,1307;ESP6500_CDS_SIZES=NM_001559.2:2589,NM_001258216.1:1908,NM_001258215.1:2331,NM_001258214.1:1980;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=189;ESP6500_EA_AC=4908,3692;ESP6500_EA_AGE=621.0+/-397.1;ESP6500_EA_GTC=1405,2098,797;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001559.2:coding-synonymous,NM_001258216.1:intron,NM_001258215.1:coding-synonymous,NM_001258214.1:coding-synonymous;ESP6500_GL=IL12RB2;ESP6500_GRCh38_POSITION=1:67386652;ESP6500_GTC=1532,2867,2104;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001559.2:c.1929G>A,NM_001258216.1:c.1855+6529G>A,NM_001258215.1:c.1671G>A,NM_001258214.1:c.1929G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001559.2:p.(T643),.,NM_001258215.1:p.(T557),NM_001258214.1:p.(T643);ESP6500_MAF=42.9302,23.2183,45.602;ESP6500_TAC=5931,7075	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1863,183,0
chr1	67395837	rs2229546	C	A	2845.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=1.141;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229546;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001559.2|protein_coding|16/16|c.2337C>A|p.Pro779Pro|2977/4040|2337/2589|779/862||,A|synonymous_variant|LOW|IL12RB2|IL12RB2|transcript|NM_001258215.1|protein_coding|14/14|c.2079C>A|p.Pro693Pro|2719/3782|2079/2331|693/776||,A|3_prime_UTR_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258214.1|protein_coding|16/16|c.*257C>A|||||257|,A|3_prime_UTR_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001258216.1|protein_coding|14/14|c.*238C>A|||||238|,A|3_prime_UTR_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NM_001319233.1|protein_coding|16/16|c.*257C>A|||||257|,A|non_coding_transcript_exon_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047583.1|pseudogene|14/14|n.2727C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|IL12RB2|IL12RB2|transcript|NR_047584.1|pseudogene|17/17|n.3070C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2780;p3_1000G_AF=0.555112;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=19161;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67861520;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2235,2171;ESP6500_AA_AGE=584.6+/-386.1;ESP6500_AA_GTC=564,1107,532;ESP6500_CDS_SIZES=NM_001559.2:2589,NM_001258216.1:1908,NM_001258215.1:2331,NM_001258214.1:1980;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=117;ESP6500_EA_AC=5737,2863;ESP6500_EA_AGE=450.0+/-362.3;ESP6500_EA_GTC=1910,1917,473;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001559.2:coding-synonymous,NM_001258216.1:utr-3,NM_001258215.1:coding-synonymous,NM_001258214.1:utr-3;ESP6500_GL=IL12RB2;ESP6500_GRCh38_POSITION=1:67395837;ESP6500_GTC=2474,3024,1005;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001559.2:c.2337C>A,NM_001258216.1:c.*238C>A,NM_001258215.1:c.2079C>A,NM_001258214.1:c.*257C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001559.2:p.(P779),.,NM_001258215.1:p.(P693),.;ESP6500_MAF=33.2907,49.2737,38.7052;ESP6500_TAC=7972,5034	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2874,267,0
chr1	67424843	rs6702742	A	G	178.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6702742;dbSNPBuildID=116;ANN=G|sequence_feature|MODERATE|SERBP1|SERBP1|modified-residue:phosphothreonine|NM_001018067.1|protein_coding|4/7|c.695+45T>C||||||,G|sequence_feature|MODERATE|SERBP1|SERBP1|modified-residue:phosphothreonine|NM_001018068.1|protein_coding|4/7|c.677+45T>C||||||,G|sequence_feature|MODERATE|SERBP1|SERBP1|modified-residue:phosphothreonine|NM_001018069.1|protein_coding|4/7|c.695+45T>C||||||,G|sequence_feature|MODERATE|SERBP1|SERBP1|modified-residue:phosphothreonine|NM_015640.3|protein_coding|4/7|c.677+45T>C||||||,G|intron_variant|MODIFIER|SERBP1|SERBP1|transcript|NM_001018067.1|protein_coding|4/7|c.695+45T>C||||||,G|intron_variant|MODIFIER|SERBP1|SERBP1|transcript|NM_001018068.1|protein_coding|4/7|c.677+45T>C||||||,G|intron_variant|MODIFIER|SERBP1|SERBP1|transcript|NM_001018069.1|protein_coding|4/7|c.695+45T>C||||||,G|intron_variant|MODIFIER|SERBP1|SERBP1|transcript|NM_015640.3|protein_coding|4/7|c.677+45T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2045;p3_1000G_AF=0.408347;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=15287;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67890526;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=998,3406;ESP6500_AA_AGE=365.1+/-317.3;ESP6500_AA_GTC=126,746,1330;ESP6500_CDS_SIZES=NM_015640.3:1164,NM_001018069.1:1182,NM_001018068.1:1209,NM_001018067.1:1227;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=4907,3693;ESP6500_EA_AGE=600.3+/-394.2;ESP6500_EA_GTC=1406,2095,799;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015640.3:intron,NM_001018069.1:intron,NM_001018068.1:intron,NM_001018067.1:intron;ESP6500_GL=SERBP1;ESP6500_GRCh38_POSITION=1:67424843;ESP6500_GTC=1532,2841,2129;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015640.3:c.677+45T>C,NM_001018069.1:c.695+45T>C,NM_001018068.1:c.677+45T>C,NM_001018067.1:c.695+45T>C;ESP6500_MAF=42.9419,22.6612,45.4091;ESP6500_TAC=5905,7099	GT:AD:DP:GQ:PL	1/1:0,5:5:15:207,15,0
chr1	67686297	rs2759219	T	G	1328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2759219;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GADD45A|GADD45A|transcript|NM_001924.3|protein_coding|2/3|c.147-53T>G||||||,G|intron_variant|MODIFIER|GADD45A|GADD45A|transcript|NM_001199741.1|protein_coding|1/2|c.45-53T>G||||||,G|intron_variant|MODIFIER|GADD45A|GADD45A|transcript|NM_001199742.1|protein_coding|2/2|c.146+171T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3746;p3_1000G_AF=0.748003;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=12221;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.8469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68151980;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1357,108,0
chr1	67686680	rs3783468	G	A	367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.43;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3783468;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|GADD45A|GADD45A|transcript|NM_001924.3|protein_coding|3/3|c.384+93G>A||||||,A|intron_variant|MODIFIER|GADD45A|GADD45A|transcript|NM_001199741.1|protein_coding|2/2|c.282+93G>A||||||,A|intron_variant|MODIFIER|GADD45A|GADD45A|transcript|NM_001199742.1|protein_coding|2/2|c.146+554G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2105;p3_1000G_AF=0.420327;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=16616;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.5288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68152363;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5992;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:396,30,0
chr1	67707581	rs2295942	C	T	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.303;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.592;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2295942;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|GNG12|GNG12|transcript|NM_018841.5|protein_coding|3/3|c.93+13G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2072;p3_1000G_AF=0.413738;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=18292;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.5129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68173264;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1036,3370;ESP6500_AA_AGE=382.1+/-324.3;ESP6500_AA_GTC=119,798,1286;ESP6500_CDS_SIZES=NM_018841.5:219;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=168;ESP6500_EA_AC=4630,3970;ESP6500_EA_AGE=601.5+/-394.4;ESP6500_EA_GTC=1247,2136,917;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018841.5:intron;ESP6500_GL=GNG12;ESP6500_GRCh38_POSITION=1:67707581;ESP6500_GTC=1366,2934,2203;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018841.5:c.93+13G>A;ESP6500_MAF=46.1628,23.5134,43.5645;ESP6500_TAC=5666,7340	GT:AD:DP:GQ:PL	0/1:18,19:37:99:442,0,430
chr1	68148250	rs2303949	C	T	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.549;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.485;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.448;SOR=1.296;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303949;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|GNG12-AS1|GNG12-AS1|transcript|NR_040077.1|pseudogene|9/9|n.1228+9800C>T||||||,T|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001002292.3|protein_coding|7/11|c.1065-51G>A||||||,T|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001193334.1|protein_coding|6/10|c.798-51G>A||||||,T|intron_variant|MODIFIER|WLS|WLS|transcript|NM_024911.6|protein_coding|7/11|c.1071-51G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1121;p3_1000G_AF=0.223842;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=21088;p3_1000G_EAS_AF=0.3671;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68613933;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=705,3701;ESP6500_AA_AGE=295.3+/-283.6;ESP6500_AA_GTC=39,627,1537;ESP6500_CDS_SIZES=NM_024911.6:1626,NM_001193334.1:1353,NM_001002292.3:1632;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=1322,7278;ESP6500_EA_AGE=259.0+/-282.4;ESP6500_EA_GTC=101,1120,3079;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024911.6:intron,NM_001193334.1:intron,NM_001002292.3:intron;ESP6500_GL=WLS;ESP6500_GRCh38_POSITION=1:68148250;ESP6500_GTC=140,1747,4616;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024911.6:c.1071-51G>A,NM_001193334.1:c.798-51G>A,NM_001002292.3:c.1065-51G>A;ESP6500_MAF=15.3721,16.0009,15.5851;ESP6500_TAC=2027,10979	GT:AD:DP:GQ:PL	0/1:15,15:30:99:346,0,407
chr1	68148330	rs2566789	A	G	643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2566789;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GNG12-AS1|GNG12-AS1|transcript|NR_040077.1|pseudogene|9/9|n.1228+9880A>G||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001002292.3|protein_coding|7/11|c.1065-131T>C||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001193334.1|protein_coding|6/10|c.798-131T>C||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_024911.6|protein_coding|7/11|c.1071-131T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4834;p3_1000G_AF=0.965256;p3_1000G_AFR_AF=0.8865;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=21360;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68614013;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:672,48,0
chr1	68155315	rs2820488	C	G	115.94	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.241;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2820488;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GNG12-AS1|GNG12-AS1|transcript|NR_040077.1|pseudogene|9/9|n.1228+16865C>G||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001002292.3|protein_coding|3/11|c.499-55G>C||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001193334.1|protein_coding|2/10|c.232-55G>C||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_024911.6|protein_coding|3/11|c.505-55G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1530;p3_1000G_AF=0.305511;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=20673;p3_1000G_EAS_AF=0.3641;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68620998;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:14:144,0,14
chr1	68159195	rs3748705	C	T	679.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.567;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.947;SOR=0.558;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748705;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|WLS|WLS|transcript|NM_001002292.3|protein_coding|3/12|c.426G>A|p.Ala142Ala|673/2052|426/1632|142/543||,T|synonymous_variant|LOW|WLS|WLS|transcript|NM_001193334.1|protein_coding|2/11|c.159G>A|p.Ala53Ala|406/2468|159/1353|53/450||,T|synonymous_variant|LOW|WLS|WLS|transcript|NM_024911.6|protein_coding|3/12|c.432G>A|p.Ala144Ala|734/2796|432/1626|144/541||,T|intron_variant|MODIFIER|GNG12-AS1|GNG12-AS1|transcript|NR_040077.1|pseudogene|9/9|n.1228+20745C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1751;p3_1000G_AF=0.349641;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=19034;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68624878;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1114,3292;ESP6500_AA_AGE=401.3+/-331.9;ESP6500_AA_GTC=170,774,1259;ESP6500_CDS_SIZES=NM_024911.6:1626,NM_001193334.1:1353,NM_001002292.3:1632;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=141;ESP6500_EA_AC=2961,5639;ESP6500_EA_AGE=460.9+/-365.3;ESP6500_EA_GTC=524,1913,1863;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024911.6:coding-synonymous,NM_001193334.1:coding-synonymous,NM_001002292.3:coding-synonymous;ESP6500_GL=WLS;ESP6500_GRCh38_POSITION=1:68159195;ESP6500_GTC=694,2687,3122;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024911.6:c.432G>A,NM_001193334.1:c.159G>A,NM_001002292.3:c.426G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024911.6:p.(A144),NM_001193334.1:p.(A53),NM_001002292.3:p.(A142);ESP6500_MAF=34.4302,25.2837,31.3317;ESP6500_TAC=4075,8931	GT:AD:DP:GQ:PL	0/1:22,29:51:99:708,0,536
chr1	68186795	rs3053455;rs5774921	TATAAC	T	124.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=1.28;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3053455,rs5774921;dbSNPBuildID=132,102;ANN=T|upstream_gene_variant|MODIFIER|MIR1262|MIR1262|transcript|NR_031664.1|pseudogene||n.-3190_-3186delGTTAT|||||3186|,T|intron_variant|MODIFIER|GNG12-AS1|GNG12-AS1|transcript|NR_040077.1|pseudogene|9/9|n.1229-15169_1229-15165delCATAA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001002292.3|protein_coding|2/11|c.373+7155_373+7159delGTTAT||||||,T|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001193334.1|protein_coding|1/10|c.107-27553_107-27549delGTTAT||||||,T|intron_variant|MODIFIER|WLS|WLS|transcript|NM_024911.6|protein_coding|2/11|c.379+7155_379+7159delGTTAT||||||;p3_1000G_AC=1116;p3_1000G_AF=0.222843;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=15727;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.2773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68652478;p3_1000G_GRCH37_REF=TATAAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,4:6:92:162,0,92
chr1	68194409	rs1036067	T	G	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.52;ReadPosRankSum=-0.875;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1036067;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|GNG12-AS1|GNG12-AS1|transcript|NR_040077.1|pseudogene|9/9|n.1229-7560T>G||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001002292.3|protein_coding|1/11|c.107-188A>C||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_001193334.1|protein_coding|1/10|c.107-35162A>C||||||,G|intron_variant|MODIFIER|WLS|WLS|transcript|NM_024911.6|protein_coding|1/11|c.107-182A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=715;p3_1000G_AF=0.142772;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=19917;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.0915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68660092;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:265,0,122
chr1	68439675	rs1925955;255839	G	C	672.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1925955;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|RPE65|RPE65|transcript|NM_000329.2|protein_coding|6/13|c.644-33C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=3473;p3_1000G_AF=0.69349;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=17549;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.3917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68905358;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3399,1007;ESP6500_AA_AGE=727.5+/-409.8;ESP6500_AA_GTC=1322,755,126;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...6121&amp%3Brs...1925955;ESP6500_CDS_SIZES=NM_000329.2:1602;ESP6500_CG=-11.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=92;ESP6500_EA_AC=3350,5250;ESP6500_EA_AGE=496.9+/-374.4;ESP6500_EA_GTC=654,2042,1604;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000329.2:intron;ESP6500_GL=RPE65;ESP6500_GRCh38_POSITION=1:68439675;ESP6500_GTC=1976,2797,1730;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000329.2:c.644-33C>G;ESP6500_MAF=38.9535,22.8552,48.1086;ESP6500_TAC=6749,6257;CLINVAR_ALLELEID=250012;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.68439675G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RPE65:6121;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1925955	GT:AD:DP:GQ:PL	1/1:0,21:21:63:701,63,0
chr1	68444929	rs3790471	C	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.234;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.848;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790471;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|RPE65|RPE65|transcript|NM_000329.2|protein_coding|3/13|c.246-46G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=292;p3_1000G_AF=0.0583067;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=20513;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68910612;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=70,4336;ESP6500_AA_AGE=62.9+/-100.1;ESP6500_AA_GTC=1,68,2134;ESP6500_CDS_SIZES=NM_000329.2:1602;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=31;ESP6500_EA_AC=63,8537;ESP6500_EA_AGE=36.9+/-92.0;ESP6500_EA_GTC=0,63,4237;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000329.2:intron;ESP6500_GL=RPE65;ESP6500_GRCh38_POSITION=1:68444929;ESP6500_GTC=1,131,6371;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000329.2:c.246-46G>A;ESP6500_MAF=0.7326,1.5887,1.0226;ESP6500_TAC=133,12873	GT:AD:DP:GQ:PL	0/1:7,7:14:99:178,0,190
chr1	68477753	rs1924542	G	A	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.422;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=6.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.44;ReadPosRankSum=1.21;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1924542;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|DEPDC1|DEPDC1|transcript|NM_001114120.2|protein_coding|11/11|c.2298+34C>T||||||,A|intron_variant|MODIFIER|DEPDC1|DEPDC1|transcript|NM_017779.5|protein_coding|10/10|c.1446+34C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1860;p3_1000G_AF=0.371406;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=15620;p3_1000G_EAS_AF=0.1329;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68943436;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1843,2533;ESP6500_AA_GTC=398,1047,743;ESP6500_CDS_SIZES=NM_017779.4:1584,NM_001114120.1:2436;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=42;ESP6500_EA_AC=5007,3541;ESP6500_EA_GTC=1473,2061,740;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017779.4:intron,NM_001114120.1:intron;ESP6500_GL=DEPDC1;ESP6500_GRCh38_POSITION=1:68477753;ESP6500_GTC=1871,3108,1483;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017779.4:c.1446+34C>T,NM_001114120.1:c.2298+34C>T;ESP6500_MAF=41.4249,42.1161,46.9978;ESP6500_TAC=6850,6074	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,10:13:99:0|1:68477753_G_A:411,0,180
chr1	68477759	rs3790476	A	G	379.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.393;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=2.44;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790476;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|DEPDC1|DEPDC1|transcript|NM_001114120.2|protein_coding|11/11|c.2298+28T>C||||||,G|intron_variant|MODIFIER|DEPDC1|DEPDC1|transcript|NM_017779.5|protein_coding|10/10|c.1446+28T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1791;p3_1000G_AF=0.357628;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=15829;p3_1000G_EAS_AF=0.1329;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68943442;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1719,2661;ESP6500_AA_GTC=345,1029,816;ESP6500_CDS_SIZES=NM_017779.4:1584,NM_001114120.1:2436;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=44;ESP6500_EA_AC=5008,3552;ESP6500_EA_GTC=1470,2068,742;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017779.4:intron,NM_001114120.1:intron;ESP6500_GL=DEPDC1;ESP6500_GRCh38_POSITION=1:68477759;ESP6500_GTC=1815,3097,1558;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017779.4:c.1446+28T>C,NM_001114120.1:c.2298+28T>C;ESP6500_MAF=41.4953,39.2466,48.0139;ESP6500_TAC=6727,6213	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,10:14:99:0|1:68477753_G_A:408,0,202
chr1	68481635	rs3833522;rs397816625;~rs3833522	C	CA	172.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.227;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.795;SOR=0.892;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3833522;dbSNPBuildID=135,138;ANN=CA|intron_variant|MODIFIER|DEPDC1|DEPDC1|transcript|NM_001114120.2|protein_coding|8/11|c.1763-24dupT||||||,CA|intron_variant|MODIFIER|DEPDC1|DEPDC1|transcript|NM_017779.5|protein_coding|7/10|c.911-24dupT||||||;p3_1000G_AA=AAAAAA|AAAAA|AAAAAA|deletion;p3_1000G_AC=3113;p3_1000G_AF=0.621605;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=16727;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.8181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68947318;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=INDEL;ESP6500_AA_AC=3220,1010;ESP6500_AA_GTC=1239,742,134;ESP6500_CDS_SIZES=NM_017779.4:1584,NM_001114120.1:2436;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=21;ESP6500_EA_AC=6772,1434;ESP6500_EA_GTC=2811,1150,142;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017779.4:intron,NM_001114120.1:intron;ESP6500_GL=DEPDC1;ESP6500_GRCh38_POSITION=1:68481635;ESP6500_GTC=4050,1892,276;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_017779.4:c.911-24_911-23insT,NM_001114120.1:c.1763-24_1763-23insT;ESP6500_MAF=17.475,23.8771,19.6526;ESP6500_TAC=9992,2444	GT:AD:DP:GQ:PL	0/1:7,8:15:99:210,0,179
chr1	68486881	rs1318834308;rs878944713	A	AAC	72.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.366;SOR=1.022;INS;HET;VARTYPE=INS;dbSNPBuildID=151,147;ANN=AAC|intron_variant|MODIFIER|DEPDC1|DEPDC1|transcript|NM_001114120.2|protein_coding|6/11|c.769+54_769+55dupGT||||||,AAC|intron_variant|MODIFIER|DEPDC1|DEPDC1|transcript|NM_017779.5|protein_coding|6/10|c.769+54_769+55dupGT||||||	GT:AD:DP:GQ:PL	0/1:2,5:7:24:110,0,24
chr1	69568687	rs11280966	C	CCAGCCGCGTG	1025.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=2.124;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11280966;dbSNPBuildID=132;ANN=CCAGCCGCGTG|intergenic_region|MODIFIER|DEPDC1-AS1-LRRC7|DEPDC1-AS1-LRRC7|intergenic_region|DEPDC1-AS1-LRRC7|||n.69568687_69568688insCAGCCGCGTG||||||;p3_1000G_AC=4434;p3_1000G_AF=0.885383;p3_1000G_AFR_AF=0.8654;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=8384;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.9115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70034370;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,24:24:72:1063,72,0
chr1	69834716	rs11310186;rs398089334	AT	A	183.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.561;SOR=2.712;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11310186;dbSNPBuildID=137,138;ANN=A|intron_variant|MODIFIER|LRRC7|LRRC7|transcript|NM_020794.2|protein_coding|3/24|c.387-56delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTTT|TTTTTTTT|TTTTTTT|insertion;p3_1000G_AC=499;p3_1000G_AF=0.0996406;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=17891;p3_1000G_EAS_AF=0.1389;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70300399;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,9:18:99:221,0,220
chr1	69931404	rs7530457	T	C	820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.78;SOR=6.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7530457;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|LRRC7|LRRC7|transcript|NM_020794.2|protein_coding|5/24|c.534-103T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2822;p3_1000G_AF=0.563498;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=20388;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.5626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70397087;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:849,60,0
chr1	70020977	rs80149353	A	G	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.478;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80149353;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|LRRC7|LRRC7|transcript|NM_020794.2|protein_coding|13/24|c.1307-28A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=470;p3_1000G_AF=0.0938498;p3_1000G_AFR_AF=0.1097;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=17022;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70486660;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=468,3936;ESP6500_AA_GTC=24,420,1758;ESP6500_CDS_SIZES=NM_020794.2:4614;ESP6500_CG=-2.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=29;ESP6500_EA_AC=438,8160;ESP6500_EA_GTC=10,418,3871;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020794.2:intron;ESP6500_GL=LRRC7;ESP6500_GRCh38_POSITION=1:70020977;ESP6500_GTC=34,838,5629;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020794.2:c.1307-28A>G;ESP6500_MAF=5.0942,10.6267,6.9682;ESP6500_TAC=906,12096	GT:AD:DP:GQ:PL	0/1:7,7:14:99:181,0,139
chr1	70021108	rs145241026	C	T	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-1.127;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145241026;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|LRRC7|LRRC7|transcript|NM_020794.2|protein_coding|14/25|c.1410C>T|p.Asp470Asp|1440/6245|1410/4614|470/1537||;p3_1000G_AA=C|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17703;p3_1000G_EAS_AF=0.0188;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70486791;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,11:29:99:266,0,431
chr1	70121677	rs641909	C	T	346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.68;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs641909;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|LRRC7|LRRC7|transcript|NM_020794.2|protein_coding|24/24|c.4507-103C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3682;p3_1000G_AF=0.735224;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=19478;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70587360;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:375,30,0
chr1	70128404	rs10709231;rs397799571	AT	A	176.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.25;SOR=0.941;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10709231;dbSNPBuildID=134,138;ANN=A|downstream_gene_variant|MODIFIER|LRRC7|LRRC7|transcript|NM_020794.2|protein_coding||c.*6518delT|||||4917|,A|intergenic_region|MODIFIER|LRRC7-LRRC40|LRRC7-LRRC40|intergenic_region|LRRC7-LRRC40|||n.70128405delT||||||;p3_1000G_AA=TTTTTTT|TTTTTTTT|TTTTTTT|insertion;p3_1000G_AC=3672;p3_1000G_AF=0.733227;p3_1000G_AFR_AF=0.826;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=13715;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70594087;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:214,21,0
chr1	70145664	rs595662	A	G	389.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs595662;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|LRRC40|LRRC40|transcript|NM_017768.4|protein_coding|15/15|c.*136T>C|||||136|;p3_1000G_AA=G|||;p3_1000G_AC=4903;p3_1000G_AF=0.979034;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=16040;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70611347;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:418,39,0
chr1	70365213	rs35764957;rs545340332;rs759658610	CA	C	35.93	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=7.19;ReadPosRankSum=-0.253;SOR=0.223;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35764957;dbSNPBuildID=142,144,126;ANN=C|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001031693.2|protein_coding|1/2|c.161-1210delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001036645.1|protein_coding|1/2|c.258-1210delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001036646.1|protein_coding|1/2|c.157-1210delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NR_027404.1|pseudogene|1/3|n.299-1210delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2653;p3_1000G_AF=0.529752;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=14295;p3_1000G_EAS_AF=0.5665;p3_1000G_EUR_AF=0.5557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70830896;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,4:5:5:72,5,0
chr1	70365382	rs9787313	A	G	280.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9787313;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001031693.2|protein_coding|1/2|c.161-1062A>G||||||,G|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001036645.1|protein_coding|1/2|c.258-1062A>G||||||,G|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001036646.1|protein_coding|1/2|c.157-1062A>G||||||,G|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NR_027404.1|pseudogene|1/3|n.299-1062A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4927;p3_1000G_AF=0.983826;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=13015;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70831065;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:309,30,0
chr1	70366246	rs56282302	C	T	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.753;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.254;SOR=0.625;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56282302;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001031693.2|protein_coding|1/2|c.161-198C>T||||||,T|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001036645.1|protein_coding|1/2|c.258-198C>T||||||,T|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NM_001036646.1|protein_coding|1/2|c.157-198C>T||||||,T|intron_variant|MODIFIER|HHLA3|HHLA3|transcript|NR_027404.1|pseudogene|1/3|n.299-198C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18017;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70831929;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,13:25:99:352,0,331
chr1	70418157	rs1145920	A	G	182.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1145920;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|CTH|CTH|transcript|NM_001902.5|protein_coding|3/11|c.346+125A>G||||||,G|intron_variant|MODIFIER|CTH|CTH|transcript|NM_001190463.1|protein_coding|2/10|c.250+2120A>G||||||,G|intron_variant|MODIFIER|CTH|CTH|transcript|NM_153742.4|protein_coding|3/10|c.346+125A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4000;p3_1000G_AF=0.798722;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DP=16750;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.7197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70883840;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:211,18,0
chr1	70438840	rs112004441;rs58815241;298038	T	TTGTG	1252.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.06;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=35.2;ReadPosRankSum=1.44;SOR=0.829;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs112004441;dbSNPBuildID=132,129;ANN=TTGTG|intron_variant|MODIFIER|CTH|CTH|transcript|NM_001902.5|protein_coding|11/11|c.1191+40_1191+43dupGTGT||||||INFO_REALIGN_3_PRIME,TTGTG|intron_variant|MODIFIER|CTH|CTH|transcript|NM_001190463.1|protein_coding|10/10|c.1095+40_1095+43dupGTGT||||||INFO_REALIGN_3_PRIME,TTGTG|intron_variant|MODIFIER|CTH|CTH|transcript|NM_153742.4|protein_coding|10/10|c.1059+40_1059+43dupGTGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1864;p3_1000G_AF=0.372204;p3_1000G_AFR_AF=0.3177;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=22890;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70904523;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=281795;CLINVAR_CLNDISDB=MedGen:C0220993,OMIM:219500,Orphanet:ORPHA212,SNOMED_CT:13003007;CLINVAR_CLNDN=Cystathioninuria;CLINVAR_CLNHGVS=NC_000001.11:g.70438866_70438869dupGTGT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:559677;CLINVAR_GENEINFO=CTH:1491;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=58815241	GT:AD:DP:GQ:PL	1/1:1,29:30:39:1216,39,0
chr1	70439117	rs1021737;2941	G	T	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.116;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.261;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.439;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1021737;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|CTH|CTH|transcript|NM_001902.5|protein_coding|12/12|c.1208G>T|p.Ser403Ile|1406/2140|1208/1218|403/405||,T|missense_variant|MODERATE|CTH|CTH|transcript|NM_001190463.1|protein_coding|11/11|c.1112G>T|p.Ser371Ile|1310/2044|1112/1122|371/373||,T|missense_variant|MODERATE|CTH|CTH|transcript|NM_153742.4|protein_coding|11/11|c.1076G>T|p.Ser359Ile|1274/2008|1076/1086|359/361||;p3_1000G_AA=G|||;p3_1000G_AC=1028;p3_1000G_AF=0.205272;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=17108;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70904800;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=476,3930;ESP6500_AA_AGE=222.6+/-239.4;ESP6500_AA_GTC=32,412,1759;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...1491&amp%3Brs...1021737|http://omim.org/entry/607657#0005;ESP6500_CDS_SIZES=NM_153742.4:1086,NM_001902.5:1218,NM_001190463.1:1122;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=125;ESP6500_EA_AC=2617,5983;ESP6500_EA_AGE=423.1+/-354.3;ESP6500_EA_GTC=402,1813,2085;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153742.4:missense,NM_001902.5:missense,NM_001190463.1:missense;ESP6500_GL=CTH;ESP6500_GRCh38_POSITION=1:70439117;ESP6500_GS=142,142,142;ESP6500_GTC=434,2225,3844;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_153742.4:c.1076G>T,NM_001902.5:c.1208G>T,NM_001190463.1:c.1112G>T;ESP6500_HGVS_PROTEIN_VAR=NM_153742.4:p.(S359I),NM_001902.5:p.(S403I),NM_001190463.1:p.(S371I);ESP6500_MAF=30.4302,10.8034,23.7813;ESP6500_PH=benign:0.343,benign:0.343,benign:0.343;ESP6500_TAC=3093,9913;CLINVAR_AF_ESP=0.2378;CLINVAR_AF_EXAC=0.27705;CLINVAR_AF_TGP=0.2053;CLINVAR_ALLELEID=17980;CLINVAR_CLNDISDB=MedGen:C0220993,OMIM:219500,Orphanet:ORPHA212,SNOMED_CT:13003007|MedGen:C4017108;CLINVAR_CLNDN=Cystathioninuria|Homocysteine,_total_plasma,_elevated;CLINVAR_CLNHGVS=NC_000001.11:g.70439117G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1736|OMIM_Allelic_Variant:607657.0005|UniProtKB_(protein):P32929#VAR_015452;CLINVAR_GENEINFO=CTH:1491;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1021737	GT:AD:DP:GQ:PL	0/1:11,21:32:99:465,0,261
chr1	70862253	rs112423301;rs538724545	T	TA	172.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.126;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.463;SOR=0.653;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112423301;dbSNPBuildID=142,132;ANN=TA|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198714.1|protein_coding|4/4|c.*24-9395dupT||||||,TA|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198716.1|protein_coding|3/3|c.1105-9395dupT||||||,TA|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198717.1|protein_coding|2/2|c.1078-9395dupT||||||,TA|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028292.1|pseudogene|5/5|n.1504+51dupT||||||,TA|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028293.1|pseudogene|4/4|n.1477+51dupT||||||,TA|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028294.1|pseudogene|5/5|n.1573+51dupT||||||	GT:AD:DP:GQ:PL	0/1:7,9:16:99:210,0,154
chr1	70865747	rs5702	G	A	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.772;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.223;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=-0.389;SOR=0.889;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5702;dbSNPBuildID=52;ANN=A|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198714.1|protein_coding|4/4|c.*24-12888C>T||||||,A|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198716.1|protein_coding|3/3|c.1105-12888C>T||||||,A|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198717.1|protein_coding|2/2|c.1078-12888C>T||||||,A|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028292.1|pseudogene|4/5|n.1412-3350C>T||||||,A|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028293.1|pseudogene|3/4|n.1385-3350C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028294.1|pseudogene|4/6|n.1422C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1156;p3_1000G_AF=0.230831;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=18667;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71331430;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=577,3829;ESP6500_AA_AGE=255.2+/-260.5;ESP6500_AA_GTC=47,483,1673;ESP6500_CDS_SIZES=NM_198717.1:1098,NM_198716.1:1125,NM_198714.1:1173;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=142;ESP6500_EA_AC=1992,6608;ESP6500_EA_AGE=349.6+/-327.5;ESP6500_EA_GTC=231,1530,2539;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198717.1:intron,NM_198716.1:intron,NM_198714.1:intron;ESP6500_GL=PTGER3;ESP6500_GRCh38_POSITION=1:70865747;ESP6500_GTC=278,2013,4212;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198717.1:c.1078-12888C>T,NM_198716.1:c.1105-12888C>T,NM_198714.1:c.*88039C>T;ESP6500_MAF=23.1628,13.0958,19.7524;ESP6500_TAC=2569,10437	GT:AD:DP:GQ:PL	0/1:27,16:43:99:365,0,722
chr1	70865815	rs1409986	A	G	1099.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.33;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1409986;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198714.1|protein_coding|4/4|c.*24-12956T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198716.1|protein_coding|3/3|c.1105-12956T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198717.1|protein_coding|2/2|c.1078-12956T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028292.1|pseudogene|4/5|n.1412-3418T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028293.1|pseudogene|3/4|n.1385-3418T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028294.1|pseudogene|4/6|n.1354T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4875;p3_1000G_AF=0.973442;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=17665;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9155;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71331498;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4337,69;ESP6500_AA_AGE=62.3+/-99.4;ESP6500_AA_GTC=2135,67,1;ESP6500_CDS_SIZES=NM_198717.1:1098,NM_198716.1:1125,NM_198714.1:1173;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=103;ESP6500_EA_AC=7885,715;ESP6500_EA_AGE=175.6+/-225.6;ESP6500_EA_GTC=3607,671,22;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198717.1:intron,NM_198716.1:intron,NM_198714.1:intron;ESP6500_GL=PTGER3;ESP6500_GRCh38_POSITION=1:70865815;ESP6500_GTC=5742,738,23;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198717.1:c.1078-12956T>C,NM_198716.1:c.1105-12956T>C,NM_198714.1:c.*87971T>C;ESP6500_MAF=8.314,1.566,6.028;ESP6500_TAC=12222,784	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1128,99,0
chr1	70953816	rs571705	C	T	673.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.07;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs571705;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198718.1|protein_coding|2/3|c.1078-27G>A||||||,T|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198714.1|protein_coding|3/4|c.1170-27G>A||||||,T|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198716.1|protein_coding|2/3|c.1078-27G>A||||||,T|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198717.1|protein_coding|2/2|c.1077+58489G>A||||||,T|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028292.1|pseudogene|2/5|n.1309-27G>A||||||,T|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028293.1|pseudogene|2/4|n.1308+58489G>A||||||,T|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028294.1|pseudogene|2/5|n.1309-27G>A||||||,T|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_001126044.1|protein_coding|3/4|c.1170-27G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4346;p3_1000G_AF=0.867812;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=19514;p3_1000G_EAS_AF=0.9544;p3_1000G_EUR_AF=0.8569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71419499;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2223,431;ESP6500_AA_GTC=932,359,36;ESP6500_CDS_SIZES=NM_198718.1:1257,NM_198717.1:1098,NM_198716.1:1125,NM_198714.1:1173,NM_001126044.1:1173;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=73;ESP6500_EA_AC=3853,765;ESP6500_EA_GTC=1610,633,66;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198718.1:intron,NM_198717.1:intron,NM_198716.1:intron,NM_198714.1:intron,NM_001126044.1:intron;ESP6500_GL=PTGER3;ESP6500_GRCh38_POSITION=1:70953816;ESP6500_GTC=2542,992,102;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198718.1:c.1078-27G>A,NM_198717.1:c.1077+58489G>A,NM_198716.1:c.1078-27G>A,NM_198714.1:c.1170-27G>A,NM_001126044.1:c.1170-27G>A;ESP6500_MAF=16.5656,16.2396,16.4466;ESP6500_TAC=6076,1196	GT:AD:DP:GQ:PL	1/1:0,24:24:72:702,72,0
chr1	71009099	rs5693	A	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.15;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.23;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5693;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198715.2|protein_coding|2/2|c.*3116T>C|||||3116|,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198718.1|protein_coding|2/3|c.1077+3206T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198714.1|protein_coding|2/4|c.1077+3206T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198716.1|protein_coding|2/3|c.1077+3206T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198717.1|protein_coding|2/2|c.1077+3206T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028292.1|pseudogene|2/5|n.1308+3206T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028293.1|pseudogene|2/4|n.1308+3206T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NR_028294.1|pseudogene|2/5|n.1308+3206T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_001126044.1|protein_coding|2/4|c.1077+3206T>C||||||,G|intron_variant|MODIFIER|PTGER3|PTGER3|transcript|NM_198719.1|protein_coding|2/3|c.1077+3206T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1360;p3_1000G_AF=0.271565;p3_1000G_AFR_AF=0.4682;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=14588;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71474782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:192,0,135
chr1	71072260	rs11209745	A	G	670.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11209745;dbSNPBuildID=120;ANN=G|splice_region_variant&intron_variant|LOW|ZRANB2|ZRANB2|transcript|NM_203350.2|protein_coding|5/9|c.379-5T>C||||||,G|splice_region_variant&intron_variant|LOW|ZRANB2|ZRANB2|transcript|NM_005455.4|protein_coding|5/10|c.379-5T>C||||||,G|upstream_gene_variant|MODIFIER|MIR186|MIR186|transcript|NR_029707.1|pseudogene||n.-4544T>C|||||4544|;p3_1000G_AA=A|||;p3_1000G_AC=1818;p3_1000G_AF=0.363019;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=16950;p3_1000G_EAS_AF=0.7133;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71537943;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=709,3695;ESP6500_AA_AGE=271.6+/-270.3;ESP6500_AA_GTC=60,589,1553;ESP6500_CDS_SIZES=NM_203350.2:993,NM_005455.4:963;ESP6500_CG=4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=2220,6362;ESP6500_EA_AGE=359.5+/-331.6;ESP6500_EA_GTC=292,1636,2363;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203350.2:intron,NM_005455.4:intron;ESP6500_GL=ZRANB2;ESP6500_GRCh38_POSITION=1:71072260;ESP6500_GTC=352,2225,3916;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_203350.2:c.379-5T>C,NM_005455.4:c.379-5T>C;ESP6500_MAF=25.8681,16.099,22.5551;ESP6500_TAC=2929,10057	GT:AD:DP:GQ:PL	1/1:0,19:19:57:699,57,0
chr1	71592869	rs1413368	G	A	752.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1413368;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|NEGR1|NEGR1|transcript|NM_173808.2|protein_coding|6/7|c.888C>T|p.Thr296Thr|988/5669|888/1065|296/354||;p3_1000G_AA=A|||;p3_1000G_AC=4255;p3_1000G_AF=0.849641;p3_1000G_AFR_AF=0.6634;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=18093;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=72058552;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3090,1316;ESP6500_AA_AGE=443.7+/-347.1;ESP6500_AA_GTC=1093,904,206;ESP6500_CDS_SIZES=NM_173808.2:1065;ESP6500_CG=-4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=130;ESP6500_EA_AC=8573,27;ESP6500_EA_AGE=16.6+/-54.9;ESP6500_EA_GTC=4273,27,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173808.2:coding-synonymous;ESP6500_GL=NEGR1;ESP6500_GRCh38_POSITION=1:71592869;ESP6500_GTC=5366,931,206;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173808.2:c.888C>T;ESP6500_HGVS_PROTEIN_VAR=NM_173808.2:p.(T296);ESP6500_MAF=0.314,29.8684,10.326;ESP6500_TAC=11663,1343	GT:AD:DP:GQ:PL	1/1:0,23:23:69:781,69,0
chr1	71593092	rs1413369	G	A	367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1413369;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|NEGR1|NEGR1|transcript|NM_173808.2|protein_coding|5/6|c.789-124C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4256;p3_1000G_AF=0.84984;p3_1000G_AFR_AF=0.6634;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=19747;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=72058775;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:396,36,0
chr1	71776356	rs6424448	G	A	131.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.38;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6424448;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|NEGR1|NEGR1|transcript|NM_173808.2|protein_coding|2/6|c.410-59C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3748;p3_1000G_AF=0.748403;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=13748;p3_1000G_EAS_AF=0.879;p3_1000G_EUR_AF=0.8757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=72242039;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:160,15,0
chr1	71934973	rs11209871	A	G	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.03;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.16;ReadPosRankSum=-0.349;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11209871;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NEGR1|NEGR1|transcript|NM_173808.2|protein_coding|2/6|c.409+106T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=934;p3_1000G_AF=0.186502;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=19594;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=72400656;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:92:305,0,92
chr1	74109498	rs1340472	C	T	759.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.33;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1340472;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|LRRIQ3|LRRIQ3|transcript|NM_001105659.1|protein_coding|5/8|c.763G>A|p.Ala255Thr|955/2862|763/1875|255/624||,T|missense_variant|MODERATE|LRRIQ3|LRRIQ3|transcript|NM_001322315.1|protein_coding|5/8|c.763G>A|p.Ala255Thr|955/2384|763/1293|255/430||;p3_1000G_AA=T|||;p3_1000G_AC=4031;p3_1000G_AF=0.804912;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=11931;p3_1000G_EAS_AF=0.9573;p3_1000G_EUR_AF=0.9085;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74575182;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2113,1467;ESP6500_AA_GTC=640,833,317;ESP6500_CDS_SIZES=NM_001105659.1:1875;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=108;ESP6500_EA_AC=7501,607;ESP6500_EA_GTC=3463,575,16;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001105659.1:missense;ESP6500_GL=LRRIQ3;ESP6500_GRCh38_POSITION=1:74109498;ESP6500_GS=58;ESP6500_GTC=4103,1408,333;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001105659.1:c.763G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001105659.1:p.(A255T);ESP6500_MAF=7.4864,40.9777,17.7447;ESP6500_PH=benign:0.0;ESP6500_TAC=9614,2074	GT:AD:DP:GQ:PL	1/1:0,30:30:89:788,89,0
chr1	74180830	rs6701961	C	T	707.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.77;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6701961;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LRRIQ3|LRRIQ3|transcript|NM_001105659.1|protein_coding|3/7|c.573+1708G>A||||||,T|intron_variant|MODIFIER|LRRIQ3|LRRIQ3|transcript|NM_001322315.1|protein_coding|3/7|c.573+1708G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4997;p3_1000G_AF=0.997804;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=19423;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74646514;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1375,9;ESP6500_AA_GTC=683,9,0;ESP6500_CDS_SIZES=NM_001105659.1:1875;ESP6500_CG=2.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=81;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001105659.1:intron;ESP6500_GL=LRRIQ3;ESP6500_GRCh38_POSITION=1:74180830;ESP6500_GTC=2274,9,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001105659.1:c.573+1708G>A;ESP6500_MAF=0.0,0.6503,0.1971;ESP6500_TAC=4557,9	GT:AD:DP:GQ:PL	1/1:0,23:23:69:736,69,0
chr1	74198465	rs4422957	T	C	976.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4422957;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|LRRIQ3|LRRIQ3|transcript|NM_001105659.1|protein_coding||c.-14781A>G|||||278|,C|upstream_gene_variant|MODIFIER|LRRIQ3|LRRIQ3|transcript|NM_001322315.1|protein_coding||c.-14781A>G|||||278|,C|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_003838.4|protein_coding|1/3|c.121+105T>C||||||,C|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|1/26|c.121+105T>C||||||,C|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_001199328.2|protein_coding|1/4|c.121+105T>C||||||,C|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_001199329.2|protein_coding|1/3|c.121+105T>C||||||,C|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|1/23|c.121+105T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2227;p3_1000G_AF=0.444688;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=17017;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.4652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74664149;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1005,90,0
chr1	74199809	rs792310	G	A	1324.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=1.312;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs792310;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|FPGT|FPGT|transcript|NM_003838.4|protein_coding|2/4|c.267G>A|p.Val89Val|295/4722|267/1824|89/607||,A|synonymous_variant|LOW|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|2/27|c.267G>A|p.Val89Val|295/3328|267/2850|89/949||,A|synonymous_variant|LOW|FPGT|FPGT|transcript|NM_001199328.2|protein_coding|2/5|c.267G>A|p.Val89Val|295/3960|267/1062|89/353||,A|synonymous_variant|LOW|FPGT|FPGT|transcript|NM_001199329.2|protein_coding|2/4|c.267G>A|p.Val89Val|295/3905|267/549|89/182||,A|synonymous_variant|LOW|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|2/24|c.267G>A|p.Val89Val|295/2782|267/2571|89/856||,A|upstream_gene_variant|MODIFIER|LRRIQ3|LRRIQ3|transcript|NM_001105659.1|protein_coding||c.-16125C>T|||||1622|,A|upstream_gene_variant|MODIFIER|LRRIQ3|LRRIQ3|transcript|NM_001322315.1|protein_coding||c.-16125C>T|||||1622|;p3_1000G_AA=A|||;p3_1000G_AC=2237;p3_1000G_AF=0.446685;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=16408;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.4642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74665493;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1005,3401;ESP6500_AA_AGE=729.6+/-410.1;ESP6500_AA_GTC=122,761,1320;ESP6500_CDS_SIZES=NM_003838.3:1785,NM_001199329.1:510,NM_001199328.1:1023,NM_001199327.1:2532,NM_001112808.2:2811;ESP6500_CG=-3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=136;ESP6500_EA_AC=4157,4443;ESP6500_EA_AGE=588.2+/-392.3;ESP6500_EA_GTC=1018,2121,1161;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003838.3:coding-synonymous,NM_001199329.1:coding-synonymous,NM_001199328.1:coding-synonymous,NM_001199327.1:coding-synonymous,NM_001112808.2:coding-synonymous;ESP6500_GL=FPGT,FPGT-TNNI3K;ESP6500_GRCh38_POSITION=1:74199809;ESP6500_GTC=1140,2882,2481;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003838.3:c.228G>A,NM_001199329.1:c.228G>A,NM_001199328.1:c.228G>A,NM_001199327.1:c.228G>A,NM_001112808.2:c.228G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003838.3:p.(V76),NM_001199329.1:p.(V76),NM_001199328.1:p.(V76),NM_001199327.1:p.(V76),NM_001112808.2:p.(V76);ESP6500_MAF=48.3372,22.8098,39.6894;ESP6500_TAC=5162,7844	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1353,129,0
chr1	74200660	rs35329584	A	AC	204.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.13;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35329584;dbSNPBuildID=126;ANN=AC|upstream_gene_variant|MODIFIER|LRRIQ3|LRRIQ3|transcript|NM_001105659.1|protein_coding||c.-16977_-16976insG|||||2474|,AC|upstream_gene_variant|MODIFIER|LRRIQ3|LRRIQ3|transcript|NM_001322315.1|protein_coding||c.-16977_-16976insG|||||2474|,AC|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_003838.4|protein_coding|2/3|c.290-658_290-657insC||||||,AC|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|2/26|c.290-658_290-657insC||||||,AC|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_001199328.2|protein_coding|2/4|c.290-658_290-657insC||||||,AC|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_001199329.2|protein_coding|2/3|c.290-658_290-657insC||||||,AC|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|2/23|c.290-658_290-657insC||||||;p3_1000G_AA=C|-|C|deletion;p3_1000G_AC=2225;p3_1000G_AF=0.444289;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=14527;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.4642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74666344;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:242,18,0
chr1	74204289	rs9425024	T	G	100.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9425024;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_003838.4|protein_coding|3/3|c.383-102T>G||||||,G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|3/26|c.382+2879T>G||||||,G|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_001199328.2|protein_coding|3/4|c.383-102T>G||||||,G|intron_variant|MODIFIER|FPGT|FPGT|transcript|NM_001199329.2|protein_coding|3/3|c.383-919T>G||||||,G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|3/23|c.382+2879T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4167;p3_1000G_AF=0.832069;p3_1000G_AFR_AF=0.6059;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=14670;p3_1000G_EAS_AF=0.9573;p3_1000G_EUR_AF=0.9095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74669973;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:128,9,0
chr1	74205835	rs571848	A	G	1189.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs571848;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|FPGT|FPGT|transcript|NM_003838.4|protein_coding|4/4|c.*3A>G|||||3|,G|3_prime_UTR_variant|MODIFIER|FPGT|FPGT|transcript|NM_001199328.2|protein_coding|5/5|c.*3A>G|||||3|,G|3_prime_UTR_variant|MODIFIER|FPGT|FPGT|transcript|NM_001199329.2|protein_coding|4/4|c.*461A>G|||||461|,G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|3/26|c.382+4425A>G||||||,G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|3/23|c.382+4425A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2226;p3_1000G_AF=0.444489;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=18207;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.4652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74671519;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=965,3425;ESP6500_AA_GTC=123,719,1353;ESP6500_CDS_SIZES=NM_003838.3:1785,NM_001199329.1:510,NM_001199328.1:1023,NM_001199327.1:2532,NM_001112808.2:2811;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=25;ESP6500_EA_AC=4091,4469;ESP6500_EA_GTC=1024,2043,1213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003838.3:utr-3,NM_001199329.1:utr-3,NM_001199328.1:utr-3,NM_001199327.1:intron,NM_001112808.2:intron;ESP6500_GL=FPGT,FPGT-TNNI3K;ESP6500_GRCh38_POSITION=1:74205835;ESP6500_GTC=1147,2762,2566;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003838.3:c.*3A>G,NM_001199329.1:c.*461A>G,NM_001199328.1:c.*3A>G,NM_001199327.1:c.343+4425A>G,NM_001112808.2:c.343+4425A>G;ESP6500_MAF=47.7921,21.9818,39.0425;ESP6500_TAC=5056,7894	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1218,105,0
chr1	74235611	rs505508	T	A	309.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs505508;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|3/26|c.383-491T>A||||||,A|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|1/24|c.40+120T>A||||||,A|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|3/23|c.383-491T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4892;p3_1000G_AF=0.976837;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=15437;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74701295;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:338,27,0
chr1	74236266	rs532221	T	A	678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs532221;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|4/26|c.491+56T>A||||||,A|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|2/24|c.149+56T>A||||||,A|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|4/23|c.491+56T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1762;p3_1000G_AF=0.351837;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=16692;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74701950;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:707,66,0
chr1	74250831	rs11437074;rs397980522	C	CT	32.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.144;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=0.949;SOR=1.981;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11437074;dbSNPBuildID=135,138;ANN=CT|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|6/26|c.675+78dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|4/24|c.333+78dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|6/23|c.675+78dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,4:8:57:70,0,57
chr1	74353393	rs6424586	T	G	1550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6424586;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|12/26|c.1369+33T>G||||||,G|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|10/24|c.1027+33T>G||||||,G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|12/23|c.1369+33T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4703;p3_1000G_AF=0.939097;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=18623;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74819077;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3886,520;ESP6500_AA_AGE=234.9+/-247.6;ESP6500_AA_GTC=1723,440,40;ESP6500_CDS_SIZES=NM_015978.2:2508,NM_001199327.1:2532,NM_001112808.2:2811;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=57;ESP6500_EA_AC=8104,496;ESP6500_EA_AGE=141.2+/-197.6;ESP6500_EA_GTC=3817,470,13;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015978.2:intron,NM_001199327.1:intron,NM_001112808.2:intron;ESP6500_GL=TNNI3K,FPGT-TNNI3K;ESP6500_GRCh38_POSITION=1:74353393;ESP6500_GTC=5540,910,53;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015978.2:c.1027+33T>G,NM_001199327.1:c.1330+33T>G,NM_001112808.2:c.1330+33T>G;ESP6500_MAF=5.7674,11.8021,7.8118;ESP6500_TAC=11990,1016	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1579,137,0
chr1	74375489	rs2880795	A	C	226.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2880795;dbSNPBuildID=101;ANN=C|sequence_feature|LOW|TNNI3K|TNNI3K|helix:combinatorial_evidence_used_in_manual_assertion|NM_015978.2|protein_coding|17/24|c.1772+5097A>C||||||,C|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|19/26|c.2114+5097A>C||||||,C|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|17/24|c.1772+5097A>C||||||,C|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|19/23|c.2114+5097A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4994;p3_1000G_AF=0.997204;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19985;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74841173;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:255,21,0
chr1	74436055	rs763880475;rs775668313	CTT	C	832.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.373;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.64;ReadPosRankSum=-0.243;SOR=0.784;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144,144;ANN=C|splice_region_variant&intron_variant|LOW|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|19/26|c.2115-6_2115-5delTT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|17/24|c.1773-6_1773-5delTT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001199327.1|protein_coding|19/23|c.2115-6_2115-5delTT||||||INFO_REALIGN_3_PRIME,C|sequence_feature|LOW|TNNI3K|TNNI3K|helix:combinatorial_evidence_used_in_manual_assertion|NM_015978.2|protein_coding|17/24|c.1773-24_1773-23delTT||||||	GT:AD:DP:GQ:PL	1/1:2,20:22:6:753,6,0
chr1	74470690	rs596204	A	G	2959.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=0.908;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs596204;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|23/26|c.2463+7140A>G||||||,G|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|21/24|c.2121+7140A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3811;p3_1000G_AF=0.760982;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=20462;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.5964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74936374;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2988,240,0
chr1	74470770	rs491922	G	C	2972.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=1.192;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs491922;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|23/26|c.2463+7220G>C||||||,C|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|21/24|c.2121+7220G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2887;p3_1000G_AF=0.576478;p3_1000G_AFR_AF=0.4773;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=20717;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.5775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74936454;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,86:86:99:3001,258,0
chr1	74472065	rs3765674	A	G	1568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3765674;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|23/26|c.2463+8515A>G||||||,G|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|21/24|c.2121+8515A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2889;p3_1000G_AF=0.576877;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=18617;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74937749;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1597,144,0
chr1	74475526	rs648614	C	T	2209.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=0.904;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs648614;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|23/26|c.2463+11976C>T||||||,T|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|21/24|c.2121+11976C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2882;p3_1000G_AF=0.575479;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=17465;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74941210;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2238,213,0
chr1	74475609	rs649058	G	A	2575.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs649058;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|23/26|c.2463+12059G>A||||||,A|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|21/24|c.2121+12059G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3810;p3_1000G_AF=0.760783;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=19054;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74941293;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2604,248,0
chr1	74540092	rs6656785	A	G	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.108;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=0.566;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6656785;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|25/26|c.2694-142A>G||||||,G|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|23/24|c.2352-142A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1940;p3_1000G_AF=0.38738;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=14421;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75005776;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:71:71,0,112
chr1	74540343	rs3895907	A	G	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.767;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.856;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3895907;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|26/26|c.2773+30A>G||||||,G|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|24/24|c.2431+30A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1625;p3_1000G_AF=0.324481;p3_1000G_AFR_AF=0.1936;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=13220;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0.5487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75006027;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1001,3405;ESP6500_AA_AGE=353.3+/-312.1;ESP6500_AA_GTC=116,769,1318;ESP6500_CDS_SIZES=NM_015978.2:2508,NM_001112808.2:2811;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=56;ESP6500_EA_AC=4782,3818;ESP6500_EA_AGE=600.8+/-394.3;ESP6500_EA_GTC=1344,2094,862;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015978.2:intron,NM_001112808.2:intron;ESP6500_GL=TNNI3K,FPGT-TNNI3K;ESP6500_GRCh38_POSITION=1:74540343;ESP6500_GTC=1460,2863,2180;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015978.2:c.2431+30A>G,NM_001112808.2:c.2734+30A>G;ESP6500_MAF=44.3953,22.719,44.4641;ESP6500_TAC=5783,7223	GT:AD:DP:GQ:PL	0/1:7,12:19:99:313,0,191
chr1	74540392	rs3845348	G	A	301.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3845348;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|FPGT-TNNI3K|FPGT-TNNI3K|transcript|NM_001112808.2|protein_coding|26/26|c.2773+79G>A||||||,A|intron_variant|MODIFIER|TNNI3K|TNNI3K|transcript|NM_015978.2|protein_coding|24/24|c.2431+79G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4589;p3_1000G_AF=0.916334;p3_1000G_AFR_AF=0.8737;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=16269;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75006076;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:330,27,0
chr1	74571099	rs9326115	T	C	1947.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=1.649;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9326115;dbSNPBuildID=119;ANN=C|splice_region_variant|LOW|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|14/15|c.*18A>G||||||,C|3_prime_UTR_variant|MODIFIER|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|14/15|c.*18A>G|||||18|;p3_1000G_AA=N|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20899;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75036783;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4047,359;ESP6500_AA_AGE=186.0+/-213.0;ESP6500_AA_GTC=1856,335,12;ESP6500_CDS_SIZES=NM_001002912.4:4593;ESP6500_CG=3.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=104;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001002912.4:utr-3;ESP6500_GL=C1orf173;ESP6500_GRCh38_POSITION=1:74571099;ESP6500_GTC=6155,336,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001002912.4:c.*18A>G;ESP6500_MAF=0.0116,8.148,2.768;ESP6500_TAC=12646,360	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1976,177,0
chr1	74571128	rs9326116	C	T	2150.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9326116;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|14/15|c.4582G>A|p.Val1528Met|4801/7159|4582/4593|1528/1530||;p3_1000G_AA=t|||;p3_1000G_AC=4882;p3_1000G_AF=0.97484;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21792;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75036812;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4046,360;ESP6500_AA_AGE=793.1+/-415.2;ESP6500_AA_GTC=1855,336,12;ESP6500_CDS_SIZES=NM_001002912.4:4593;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=153;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=819.1+/-406.8;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001002912.4:missense;ESP6500_GL=C1orf173;ESP6500_GRCh38_POSITION=1:74571128;ESP6500_GS=21;ESP6500_GTC=6154,337,12;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001002912.4:c.4582G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001002912.4:p.(V1528M);ESP6500_MAF=0.0116,8.1707,2.7756;ESP6500_PH=benign:0.005;ESP6500_TAC=12645,361	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2179,216,0
chr1	74572161	rs12723334	A	G	783.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0.994;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.05;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12723334;dbSNPBuildID=121;ANN=G|synonymous_variant|LOW|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|14/15|c.3549T>C|p.Ser1183Ser|3768/7159|3549/4593|1183/1530||;p3_1000G_AA=N|||;p3_1000G_AC=1879;p3_1000G_AF=0.3752;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=20208;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.3549;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75037845;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1103,3303;ESP6500_AA_AGE=719.8+/-409.0;ESP6500_AA_GTC=143,817,1243;ESP6500_CDS_SIZES=NM_001002912.4:4593;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=142;ESP6500_EA_AC=3177,5423;ESP6500_EA_AGE=653.5+/-401.1;ESP6500_EA_GTC=598,1981,1721;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001002912.4:coding-synonymous;ESP6500_GL=C1orf173;ESP6500_GRCh38_POSITION=1:74572161;ESP6500_GTC=741,2798,2964;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001002912.4:c.3549T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001002912.4:p.(S1183);ESP6500_MAF=36.9419,25.034,32.9079;ESP6500_TAC=4280,8726	GT:AD:DP:GQ:PL	0/1:29,31:60:99:812,0,696
chr1	74572544	rs11580409	A	C	2275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=143;ExcessHet=3.0103;FS=3.95;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.983;SOR=0.829;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11580409;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|14/15|c.3166T>G|p.Leu1056Val|3385/7159|3166/4593|1056/1530||,C|upstream_gene_variant|MODIFIER|ERICH3-AS1|ERICH3-AS1|transcript|NR_121671.1|pseudogene||n.-4886A>C|||||4886|;p3_1000G_AA=N|||;p3_1000G_AC=1882;p3_1000G_AF=0.375799;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=19470;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.3579;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75038228;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1107,3299;ESP6500_AA_AGE=719.0+/-408.9;ESP6500_AA_GTC=143,821,1239;ESP6500_CDS_SIZES=NM_001002912.4:4593;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=161;ESP6500_EA_AC=3201,5399;ESP6500_EA_AGE=651.8+/-400.9;ESP6500_EA_GTC=609,1983,1708;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001002912.4:missense;ESP6500_GL=C1orf173;ESP6500_GRCh38_POSITION=1:74572544;ESP6500_GS=32;ESP6500_GTC=752,2804,2947;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001002912.4:c.3166T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001002912.4:p.(L1056V);ESP6500_MAF=37.2209,25.1248,33.1232;ESP6500_PH=benign:0.0;ESP6500_TAC=4308,8698	GT:AD:DP:GQ:PL	0/1:61,82:143:99:2304,0,1557
chr1	74606580	rs41289216	G	T	469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.073;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=11.742;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.015;SOR=0.067;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41289216;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|10/14|c.1489+21C>A||||||,T|intron_variant|MODIFIER|ERICH3-AS1|ERICH3-AS1|transcript|NR_121670.1|pseudogene|1/2|n.174-8626G>T||||||,T|intron_variant|MODIFIER|ERICH3-AS1|ERICH3-AS1|transcript|NR_121671.1|pseudogene|1/2|n.81-8626G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1584;p3_1000G_AF=0.316294;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=20409;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75072264;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1267,3139;ESP6500_AA_AGE=430.8+/-342.7;ESP6500_AA_GTC=186,895,1122;ESP6500_CDS_SIZES=NM_001002912.4:4593;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=125;ESP6500_EA_AC=4366,4234;ESP6500_EA_AGE=580.4+/-391.1;ESP6500_EA_GTC=1144,2078,1078;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001002912.4:intron;ESP6500_GL=C1orf173;ESP6500_GRCh38_POSITION=1:74606580;ESP6500_GTC=1330,2973,2200;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001002912.4:c.1489+21C>A;ESP6500_MAF=49.2326,28.7562,43.3108;ESP6500_TAC=5633,7373	GT:AD:DP:GQ:PL	0/1:21,20:41:99:498,0,702
chr1	74620981	rs10493546	T	C	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.73;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=0.494;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10493546;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|7/14|c.820-67A>G||||||,C|intron_variant|MODIFIER|ERICH3-AS1|ERICH3-AS1|transcript|NR_121670.1|pseudogene|2/2|n.265-415T>C||||||,C|intron_variant|MODIFIER|ERICH3-AS1|ERICH3-AS1|transcript|NR_121671.1|pseudogene|2/2|n.172-415T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1916;p3_1000G_AF=0.382588;p3_1000G_AFR_AF=0.4705;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=17999;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75086665;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:220,0,142
chr1	74631742	rs11210490	G	C	622.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.64;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.95;ReadPosRankSum=0.151;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11210490;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|7/15|c.790C>G|p.Pro264Ala|1009/7159|790/4593|264/1530||;p3_1000G_AA=G|||;p3_1000G_AC=1607;p3_1000G_AF=0.320887;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=18825;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.5268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75097426;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1399,3007;ESP6500_AA_AGE=458.8+/-352.1;ESP6500_AA_GTC=224,951,1028;ESP6500_CDS_SIZES=NM_001002912.4:4593;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=160;ESP6500_EA_AC=4519,4081;ESP6500_EA_AGE=592.4+/-393.0;ESP6500_EA_GTC=1211,2097,992;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001002912.4:missense;ESP6500_GL=C1orf173;ESP6500_GRCh38_POSITION=1:74631742;ESP6500_GS=27;ESP6500_GTC=1435,3048,2020;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001002912.4:c.790C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001002912.4:p.(P264A);ESP6500_MAF=47.4535,31.7522,45.5021;ESP6500_PH=probably-damaging:0.995;ESP6500_TAC=5918,7088	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,18:26:99:0|1:74631735_C_A:651,0,218
chr1	74634591	.	C	A	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.023;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=-0.155;SOR=0.446;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|6/14|c.603+1689G>T||||||	GT:AD:DP:GQ:PL	0/1:13,3:16:38:38,0,400
chr1	74643179	rs623171	A	C	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs623171;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|ERICH3|ERICH3|transcript|NM_001002912.4|protein_coding|3/14|c.244-81T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3378;p3_1000G_AF=0.674521;p3_1000G_AFR_AF=0.8843;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=17367;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.6839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75108863;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:65:65,0,66
chr1	74706317	rs7527057	T	A	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.525;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=1.55;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7527057;dbSNPBuildID=116;ANN=A|structural_interaction_variant|HIGH|CRYZ|CRYZ|interaction|1YB5:A_158-A_323:NM_001130042.1|protein_coding|10/10|c.969A>T||||||,A|structural_interaction_variant|HIGH|CRYZ|CRYZ|interaction|1YB5:B_158-B_323:NM_001130042.1|protein_coding|10/10|c.969A>T||||||,A|structural_interaction_variant|HIGH|CRYZ|CRYZ|interaction|1YB5:A_158-A_323:NM_001889.3|protein_coding|9/9|c.969A>T||||||,A|structural_interaction_variant|HIGH|CRYZ|CRYZ|interaction|1YB5:B_158-B_323:NM_001889.3|protein_coding|9/9|c.969A>T||||||,A|synonymous_variant|LOW|CRYZ|CRYZ|transcript|NM_001130042.1|protein_coding|10/10|c.969A>T|p.Gly323Gly|1474/2303|969/990|323/329||,A|synonymous_variant|LOW|CRYZ|CRYZ|transcript|NM_001130043.1|protein_coding|8/8|c.867A>T|p.Gly289Gly|1333/2162|867/888|289/295||,A|synonymous_variant|LOW|CRYZ|CRYZ|transcript|NM_001134759.1|protein_coding|7/7|c.558A>T|p.Gly186Gly|1147/1976|558/579|186/192||,A|synonymous_variant|LOW|CRYZ|CRYZ|transcript|NM_001889.3|protein_coding|9/9|c.969A>T|p.Gly323Gly|1435/2264|969/990|323/329||;p3_1000G_AA=T|||;p3_1000G_AC=1084;p3_1000G_AF=0.216454;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=16116;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75172001;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=470,3936;ESP6500_AA_AGE=220.4+/-237.8;ESP6500_AA_GTC=30,410,1763;ESP6500_CDS_SIZES=NM_001889.3:990,NM_001134759.1:579,NM_001130043.1:888,NM_001130042.1:990;ESP6500_CG=-8.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=94;ESP6500_EA_AC=3966,4632;ESP6500_EA_AGE=549.0+/-385.5;ESP6500_EA_GTC=920,2126,1253;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001889.3:coding-synonymous,NM_001134759.1:coding-synonymous,NM_001130043.1:coding-synonymous,NM_001130042.1:coding-synonymous;ESP6500_GL=CRYZ;ESP6500_GRCh38_POSITION=1:74706317;ESP6500_GTC=950,2536,3016;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001889.3:c.969A>T,NM_001134759.1:c.558A>T,NM_001130043.1:c.867A>T,NM_001130042.1:c.969A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001889.3:p.(G323),NM_001134759.1:p.(G186),NM_001130043.1:p.(G289),NM_001130042.1:p.(G323);ESP6500_MAF=46.127,10.6673,34.1126;ESP6500_TAC=4436,8568	GT:AD:DP:GQ:PL	0/1:12,8:20:99:185,0,283
chr1	74707071	rs1491442681	GTA	G	349.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.678;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.467;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.634;SOR=1.659;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001130042.1|protein_coding|8/9|c.732+30_732+31delTA||||||,G|intron_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001130043.1|protein_coding|6/7|c.631-79_631-78delTA||||||,G|intron_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001134759.1|protein_coding|5/6|c.321+30_321+31delTA||||||,G|intron_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001889.3|protein_coding|7/8|c.732+30_732+31delTA||||||	GT:AD:DP:GQ:PL	0/1:19,10:29:99:387,0,677
chr1	74710202	rs3819946	T	C	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.141;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.894;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3819946;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|CRYZ|CRYZ|transcript|NM_001130042.1|protein_coding|7/10|c.526A>G|p.Ile176Val|1031/2303|526/990|176/329||,C|missense_variant|MODERATE|CRYZ|CRYZ|transcript|NM_001130043.1|protein_coding|6/8|c.526A>G|p.Ile176Val|992/2162|526/888|176/295||,C|missense_variant|MODERATE|CRYZ|CRYZ|transcript|NM_001134759.1|protein_coding|4/7|c.115A>G|p.Ile39Val|704/1976|115/579|39/192||,C|missense_variant|MODERATE|CRYZ|CRYZ|transcript|NM_001889.3|protein_coding|6/9|c.526A>G|p.Ile176Val|992/2264|526/990|176/329||;p3_1000G_AA=C|||;p3_1000G_AC=2307;p3_1000G_AF=0.460663;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=15728;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.1421;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75175886;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1978,2428;ESP6500_AA_AGE=616.5+/-392.8;ESP6500_AA_GTC=445,1088,670;ESP6500_CDS_SIZES=NM_001889.3:990,NM_001134759.1:579,NM_001130043.1:888,NM_001130042.1:990;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=75;ESP6500_EA_AC=1123,7477;ESP6500_EA_AGE=767.3+/-407.6;ESP6500_EA_GTC=74,975,3251;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001889.3:missense,NM_001134759.1:missense,NM_001130043.1:missense,NM_001130042.1:missense;ESP6500_GL=CRYZ;ESP6500_GRCh38_POSITION=1:74710202;ESP6500_GS=29,29,29,29;ESP6500_GTC=519,2063,3921;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001889.3:c.526A>G,NM_001134759.1:c.115A>G,NM_001130043.1:c.526A>G,NM_001130042.1:c.526A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001889.3:p.(I176V),NM_001134759.1:p.(I39V),NM_001130043.1:p.(I176V),NM_001130042.1:p.(I176V);ESP6500_MAF=13.0581,44.8933,23.8428;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3101,9905	GT:AD:DP:GQ:PL	0/1:12,13:25:99:354,0,332
chr1	74724768	rs1051122	C	T	517.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.675;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.17;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1051122;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|CRYZ|CRYZ|transcript|NM_001130042.1|protein_coding|3/10|c.54G>A|p.Gly18Gly|559/2303|54/990|18/329||,T|synonymous_variant|LOW|CRYZ|CRYZ|transcript|NM_001130043.1|protein_coding|2/8|c.54G>A|p.Gly18Gly|520/2162|54/888|18/295||,T|synonymous_variant|LOW|CRYZ|CRYZ|transcript|NM_001889.3|protein_coding|2/9|c.54G>A|p.Gly18Gly|520/2264|54/990|18/329||,T|intron_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001134759.1|protein_coding|1/6|c.-136-1498G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3874;p3_1000G_AF=0.773562;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=18467;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.7455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75190452;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3585,821;ESP6500_AA_AGE=324.5+/-298.6;ESP6500_AA_GTC=1457,671,75;ESP6500_CDS_SIZES=NM_001889.3:990,NM_001134759.1:579,NM_001130043.1:888,NM_001130042.1:990;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=138;ESP6500_EA_AC=6389,2211;ESP6500_EA_AGE=377.1+/-338.4;ESP6500_EA_GTC=2370,1649,281;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001889.3:coding-synonymous,NM_001134759.1:intron,NM_001130043.1:coding-synonymous,NM_001130042.1:coding-synonymous;ESP6500_GL=CRYZ;ESP6500_GRCh38_POSITION=1:74724768;ESP6500_GTC=3827,2320,356;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001889.3:c.54G>A,NM_001134759.1:c.-1634G>A,NM_001130043.1:c.54G>A,NM_001130042.1:c.54G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001889.3:p.(G18),.,NM_001130043.1:p.(G18),NM_001130042.1:p.(G18);ESP6500_MAF=25.7093,18.6337,23.3123;ESP6500_TAC=9974,3032	GT:AD:DP:GQ:PL	0/1:28,24:52:99:546,0,745
chr1	74733468	rs277373	C	T	1014.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs277373;dbSNPBuildID=79;ANN=T|upstream_gene_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001130042.1|protein_coding||c.-8647G>A|||||60|,T|upstream_gene_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001130043.1|protein_coding||c.-8647G>A|||||60|,T|upstream_gene_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001134759.1|protein_coding||c.-10334G>A|||||60|,T|upstream_gene_variant|MODIFIER|CRYZ|CRYZ|transcript|NM_001889.3|protein_coding||c.-8647G>A|||||60|,T|intron_variant|MODIFIER|TYW3|TYW3|transcript|NM_138467.2|protein_coding|1/5|c.174+50C>T||||||,T|intron_variant|MODIFIER|TYW3|TYW3|transcript|NM_001162916.1|protein_coding|1/4|c.174+50C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|TYW3|TYW3|transcript|NR_027962.1|pseudogene|1/6|n.291C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17983;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75199152;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4350,56;ESP6500_AA_AGE=54.9+/-90.9;ESP6500_AA_GTC=2148,54,1;ESP6500_CDS_SIZES=NM_138467.2:780,NM_001162916.1:681;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=34;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138467.2:intron,NM_001162916.1:intron;ESP6500_GL=TYW3;ESP6500_GRCh38_POSITION=1:74733468;ESP6500_GTC=6448,54,1;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138467.2:c.174+50C>T,NM_001162916.1:c.174+50C>T;ESP6500_MAF=0.0,1.271,0.4306;ESP6500_TAC=12950,56	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1043,96,0
chr1	75137370	rs1526503	A	G	631.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=5.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1526503;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|LHX8|LHX8|transcript|NM_001001933.1|protein_coding|4/9|c.267+109A>G||||||,G|intron_variant|MODIFIER|LHX8|LHX8|transcript|NM_001256114.1|protein_coding|3/8|c.237+109A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15576;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75603055;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:660,48,0
chr1	75143364	rs12041465	A	C	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.674;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12041465;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LHX8|LHX8|transcript|NM_001001933.1|protein_coding|6/9|c.610+26A>C||||||,C|intron_variant|MODIFIER|LHX8|LHX8|transcript|NM_001256114.1|protein_coding|5/8|c.580+26A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1615;p3_1000G_AF=0.322484;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=20035;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75609049;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=494,3904;ESP6500_AA_GTC=28,438,1733;ESP6500_CDS_SIZES=NM_001256114.1:1041,NM_001001933.1:1071;ESP6500_CG=3.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=26;ESP6500_EA_AC=1664,6930;ESP6500_EA_GTC=181,1302,2814;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001256114.1:intron,NM_001001933.1:intron;ESP6500_GL=LHX8;ESP6500_GRCh38_POSITION=1:75143364;ESP6500_GTC=209,1740,4547;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001256114.1:c.580+26A>C,NM_001001933.1:c.610+26A>C;ESP6500_MAF=19.3623,11.2324,16.6102;ESP6500_TAC=2158,10834	GT:AD:DP:GQ:PL	0/1:1,3:4:28:97,0,28
chr1	75148695	rs35220110;rs397804586;rs566887341	CT	C	312.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.748;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=8.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.636;SOR=2.556;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35220110;dbSNPBuildID=134,142,138;ANN=C|intron_variant|MODIFIER|LHX8|LHX8|transcript|NM_001001933.1|protein_coding|8/9|c.810+27delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LHX8|LHX8|transcript|NM_001256114.1|protein_coding|7/8|c.780+27delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:7,16:23:99:350,0,113
chr1	75156931	rs941032	C	T	989.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.29;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.601;SOR=0.772;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs941032;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|LHX8|LHX8|transcript|NM_001001933.1|protein_coding|9/10|c.849C>T|p.His283His|1513/2373|849/1071|283/356||,T|synonymous_variant|LOW|LHX8|LHX8|transcript|NM_001256114.1|protein_coding|8/9|c.819C>T|p.His273His|904/1764|819/1041|273/346||;p3_1000G_AA=C|||;p3_1000G_AC=1973;p3_1000G_AF=0.39397;p3_1000G_AFR_AF=0.4758;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=17790;p3_1000G_EAS_AF=0.2063;p3_1000G_EUR_AF=0.3907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75622616;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2044,2362;ESP6500_AA_AGE=566.8+/-382.0;ESP6500_AA_GTC=484,1076,643;ESP6500_CDS_SIZES=NM_001256114.1:1041,NM_001001933.1:1071;ESP6500_CG=-3.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=272;ESP6500_EA_AC=3551,5049;ESP6500_EA_AGE=517.5+/-379.0;ESP6500_EA_GTC=748,2055,1497;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001256114.1:coding-synonymous,NM_001001933.1:coding-synonymous;ESP6500_GL=LHX8;ESP6500_GRCh38_POSITION=1:75156931;ESP6500_GTC=1232,3131,2140;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001256114.1:c.819C>T,NM_001001933.1:c.849C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001256114.1:p.(H273),NM_001001933.1:p.(H283);ESP6500_MAF=41.2907,46.3913,43.0186;ESP6500_TAC=5595,7411	GT:AD:DP:GQ:PL	0/1:24,40:64:99:1018,0,583
chr1	75160735	rs2462955	A	T	352.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2462955;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|LHX8|LHX8|transcript|NM_001001933.1|protein_coding|9/9|c.995-84A>T||||||,T|intron_variant|MODIFIER|LHX8|LHX8|transcript|NM_001256114.1|protein_coding|8/8|c.965-84A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4702;p3_1000G_AF=0.938898;p3_1000G_AFR_AF=0.9304;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=18480;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.9344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75626420;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:381,33,0
chr1	75203934	rs149321205	T	TTTG	370.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.75;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs149321205;dbSNPBuildID=134;ANN=TTTG|downstream_gene_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding||c.*2670_*2672dupCAA|||||2455|,TTTG|downstream_gene_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding||c.*2670_*2672dupCAA|||||2197|,TTTG|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|23/23|c.2048-104_2048-102dupCAA||||||,TTTG|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|25/25|c.1922-104_1922-102dupCAA||||||,TTTG|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|24/24|c.1922-104_1922-102dupCAA||||||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9387;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20267;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75669619;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:408,30,0
chr1	75206691	rs1948874	A	G	1734.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1948874;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|24/24|c.2076T>C|p.Ser692Ser|2220/2521|2076/2160|692/719||,G|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|22/22|c.2058T>C|p.Ser686Ser|2181/2740|2058/2142|686/713||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|23/23|c.2048-2858T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|25/25|c.1922-2858T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|24/24|c.1922-2858T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2207;p3_1000G_AF=0.440695;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=18568;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.3966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75672376;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=913,3493;ESP6500_AA_AGE=352.1+/-311.5;ESP6500_AA_GTC=97,719,1387;ESP6500_CDS_SIZES=NM_152697.4:2160,NM_001130058.1:2154;ESP6500_CG=-0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=168;ESP6500_EA_AC=3247,5353;ESP6500_EA_AGE=486.3+/-371.9;ESP6500_EA_GTC=619,2009,1672;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152697.4:coding-synonymous,NM_001130058.1:intron;ESP6500_GL=SLC44A5;ESP6500_GRCh38_POSITION=1:75206691;ESP6500_GTC=716,2728,3059;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152697.4:c.2076T>C,NM_001130058.1:c.2048-2858T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152697.4:p.(S692),.;ESP6500_MAF=37.7558,20.7217,31.9852;ESP6500_TAC=4160,8846	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1763,174,0
chr1	75215666	rs594470	A	T	527.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.59;SOR=5.549;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs594470;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|19/23|c.1728+88T>A||||||,T|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|19/23|c.1728+88T>A||||||,T|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|21/25|c.1602+88T>A||||||,T|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|20/24|c.1602+88T>A||||||,T|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|17/21|c.1710+88T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4103;p3_1000G_AF=0.819289;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=15718;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.7704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75681351;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:556,45,0
chr1	75215826	rs595009	T	C	1002.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs595009;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|19/24|c.1656A>G|p.Gln552Gln|1800/2521|1656/2160|552/719||,C|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|19/24|c.1656A>G|p.Gln552Gln|1800/3894|1656/2154|552/717||,C|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|21/26|c.1530A>G|p.Gln510Gln|1960/4052|1530/2028|510/675||,C|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|20/25|c.1530A>G|p.Gln510Gln|1893/3985|1530/2028|510/675||,C|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|17/22|c.1638A>G|p.Gln546Gln|1761/2740|1638/2142|546/713||;p3_1000G_AA=T|||;p3_1000G_AC=4490;p3_1000G_AF=0.896565;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=15384;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75681511;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3790,616;ESP6500_AA_AGE=759.3+/-412.9;ESP6500_AA_GTC=1632,526,45;ESP6500_CDS_SIZES=NM_152697.4:2160,NM_001130058.1:2154;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=77;ESP6500_EA_AC=7253,1345;ESP6500_EA_AGE=753.3+/-407.4;ESP6500_EA_GTC=3072,1109,118;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152697.4:coding-synonymous,NM_001130058.1:coding-synonymous;ESP6500_GL=SLC44A5;ESP6500_GRCh38_POSITION=1:75215826;ESP6500_GTC=4704,1635,163;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152697.4:c.1656A>G,NM_001130058.1:c.1656A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152697.4:p.(Q552),NM_001130058.1:p.(Q552);ESP6500_MAF=15.6432,13.9809,15.08;ESP6500_TAC=11043,1961	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1031,93,0
chr1	75218844	rs610159	A	G	550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs610159;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|16/23|c.1267-92T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|16/23|c.1267-92T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|18/25|c.1141-92T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|17/24|c.1141-92T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|14/21|c.1249-92T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4584;p3_1000G_AF=0.915335;p3_1000G_AFR_AF=0.9372;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=20114;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75684529;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:579,42,0
chr1	75219958	rs12042874	T	C	191.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12042874;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|14/23|c.1086-66A>G||||||,C|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|14/23|c.1086-66A>G||||||,C|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|16/25|c.960-66A>G||||||,C|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|15/24|c.960-66A>G||||||,C|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|12/21|c.1068-66A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2543;p3_1000G_AF=0.507788;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=17369;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.4573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75685643;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:220,21,0
chr1	75251240	rs588098	C	T	814.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs588098;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|7/24|c.315G>A|p.Val105Val|459/2521|315/2160|105/719||,T|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|7/24|c.315G>A|p.Val105Val|459/3894|315/2154|105/717||,T|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|9/26|c.189G>A|p.Val63Val|619/4052|189/2028|63/675||,T|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|8/25|c.189G>A|p.Val63Val|552/3985|189/2028|63/675||,T|synonymous_variant|LOW|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|5/22|c.297G>A|p.Val99Val|420/2740|297/2142|99/713||;p3_1000G_AA=C|||;p3_1000G_AC=3729;p3_1000G_AF=0.744609;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=17690;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.7316;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75716925;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2532,1874;ESP6500_AA_AGE=631.6+/-395.7;ESP6500_AA_GTC=734,1064,405;ESP6500_CDS_SIZES=NM_152697.4:2160,NM_001130058.1:2154;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=112;ESP6500_EA_AC=6289,2311;ESP6500_EA_AGE=703.9+/-405.4;ESP6500_EA_GTC=2309,1671,320;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152697.4:coding-synonymous,NM_001130058.1:coding-synonymous;ESP6500_GL=SLC44A5;ESP6500_GRCh38_POSITION=1:75251240;ESP6500_GTC=3043,2735,725;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152697.4:c.315G>A,NM_001130058.1:c.315G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152697.4:p.(V105),NM_001130058.1:p.(V105);ESP6500_MAF=26.8721,42.5329,32.1775;ESP6500_TAC=8821,4185	GT:AD:DP:GQ:PL	1/1:0,28:28:84:843,84,0
chr1	75275160	rs1144298	A	G	376.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.73;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1144298;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|5/23|c.176-118T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|5/23|c.176-118T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|7/25|c.50-118T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|6/24|c.50-118T>C||||||,G|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|3/21|c.158-118T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2131;p3_1000G_AF=0.425519;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=18880;p3_1000G_EAS_AF=0.8661;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75740845;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:405,30,0
chr1	75300501	rs623850	G	A	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.751;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-1.311;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs623850;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|5/23|c.175+111C>T||||||,A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|5/23|c.175+111C>T||||||,A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|7/25|c.49+111C>T||||||,A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|6/24|c.49+111C>T||||||,A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|3/21|c.157+111C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3372;p3_1000G_AF=0.673323;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=15572;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.5865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75766186;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:129,0,262
chr1	75380731	rs372169461	G	A	71.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.96;QD=17.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs372169461;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_152697.4|protein_coding|3/23|c.52+15852C>T||||||,A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001130058.1|protein_coding|3/23|c.52+15852C>T||||||,A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320285.1|protein_coding|4/25|c.-166+15852C>T||||||,A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320287.1|protein_coding|3/24|c.-166+15852C>T||||||,A|intron_variant|MODIFIER|SLC44A5|SLC44A5|transcript|NM_001320283.1|protein_coding|1/21|c.35-41101C>T||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0
chr1	75728544	rs1242587397;rs796117827;rs11316888;226050	GT	G	820.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.215;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11316888;dbSNPBuildID=151,136;ANN=G|intron_variant|MODIFIER|ACADM|ACADM|transcript|NM_001286043.1|protein_coding|2/12|c.118+60delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ACADM|ACADM|transcript|NM_000016.5|protein_coding|2/11|c.118+60delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ACADM|ACADM|transcript|NM_001127328.2|protein_coding|2/11|c.130+60delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ACADM|ACADM|transcript|NM_001286042.1|protein_coding|1/10|c.10+3731delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ACADM|ACADM|transcript|NM_001286044.1|protein_coding|1/8|c.-268+3731delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TTTT|TTT|insertion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17602;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76194229;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=227862;CLINVAR_CLNDISDB=MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED_CT:128596003;CLINVAR_CLNDN=Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency;CLINVAR_CLNHGVS=NC_000001.11:g.75728548delT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=ACADM:34;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=796117827	GT:AD:DP:GQ:PL	1/1:0,25:25:75:858,75,0
chr1	75769201	rs1146593	A	G	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=-1.15;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1146593;dbSNPBuildID=87;ANN=G|intergenic_region|MODIFIER|ACADM-RABGGTB|ACADM-RABGGTB|intergenic_region|ACADM-RABGGTB|||n.75769201A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4430;p3_1000G_AF=0.884585;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=17086;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.9364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76234886;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:62:62,0,153
chr1	75791389	rs35837562;rs879159040	A	AT	334.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.648;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.271;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-2.149;SOR=0.99;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35837562;dbSNPBuildID=137,147;ANN=AT|downstream_gene_variant|MODIFIER|SNORD45C|SNORD45C|transcript|NR_003042.1|pseudogene||n.*4240_*4241insT|||||4241|,AT|downstream_gene_variant|MODIFIER|SNORD45A|SNORD45A|transcript|NR_002749.1|pseudogene||n.*3417_*3418insT|||||3418|,AT|downstream_gene_variant|MODIFIER|SNORD45B|SNORD45B|transcript|NR_002748.1|pseudogene||n.*1842_*1843insT|||||1843|,AT|intron_variant|MODIFIER|RABGGTB|RABGGTB|transcript|NM_004582.3|protein_coding|5/8|c.469-58dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|RABGGTB|RABGGTB|transcript|NR_073562.1|pseudogene|7/10|n.742-58dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:16,19:35:99:372,0,302
chr1	75792207	rs12703	A	T	446.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.17;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.872;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12703;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|RABGGTB|RABGGTB|transcript|NM_004582.3|protein_coding|7/9|c.606A>T|p.Ala202Ala|684/1514|606/996|202/331||,T|upstream_gene_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding||c.-4779A>T|||||4664|,T|downstream_gene_variant|MODIFIER|SNORD45A|SNORD45A|transcript|NR_002749.1|pseudogene||n.*4235A>T|||||4235|,T|downstream_gene_variant|MODIFIER|SNORD45B|SNORD45B|transcript|NR_002748.1|pseudogene||n.*2660A>T|||||2660|,T|non_coding_transcript_exon_variant|MODIFIER|RABGGTB|RABGGTB|transcript|NR_073562.1|pseudogene|9/11|n.879A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4493;p3_1000G_AF=0.897165;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=18159;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.9374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76257892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.955;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4289,117;ESP6500_AA_AGE=87.3+/-125.9;ESP6500_AA_GTC=2088,113,2;ESP6500_CDS_SIZES=NM_004582.2:996;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=67;ESP6500_EA_AC=8066,534;ESP6500_EA_AGE=148.3+/-203.6;ESP6500_EA_GTC=3782,502,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004582.2:coding-synonymous;ESP6500_GL=RABGGTB;ESP6500_GRCh38_POSITION=1:75792207;ESP6500_GTC=5870,615,18;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_004582.2:c.606A>T;ESP6500_HGVS_PROTEIN_VAR=NM_004582.2:p.(A202);ESP6500_MAF=6.2093,2.6555,5.0054;ESP6500_TAC=12355,651	GT:AD:DP:GQ:PL	0/1:11,19:30:99:475,0,238
chr1	75807152	rs3737574	A	G	129.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.854;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.619;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737574;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|3/19|c.588+11A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1654;p3_1000G_AF=0.330272;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=13842;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.2714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76272837;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=348,4056;ESP6500_AA_AGE=173.0+/-202.9;ESP6500_AA_GTC=11,326,1865;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=87;ESP6500_EA_AC=2576,6024;ESP6500_EA_AGE=416.3+/-352.1;ESP6500_EA_GTC=384,1808,2108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:intron;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75807152;ESP6500_GTC=395,2134,3973;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.588+11A>G;ESP6500_MAF=29.9535,7.9019,22.4854;ESP6500_TAC=2924,10080	GT:AD:DP:GQ:PL	0/1:2,6:8:52:158,0,52
chr1	75848189	rs2047435	C	T	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.332;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2047435;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|7/19|c.1163-20C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1167;p3_1000G_AF=0.233027;p3_1000G_AFR_AF=0.3207;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=15303;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76313874;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1243,3163;ESP6500_AA_AGE=420.6+/-339.1;ESP6500_AA_GTC=183,877,1143;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=58;ESP6500_EA_AC=1168,7390;ESP6500_EA_AGE=235.7+/-268.2;ESP6500_EA_GTC=79,1010,3190;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:intron;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75848189;ESP6500_GTC=262,1887,4333;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.1163-20C>T;ESP6500_MAF=13.648,28.2115,18.5977;ESP6500_TAC=2411,10553	GT:AD:DP:GQ:PL	0/1:17,10:27:99:217,0,352
chr1	75867487	rs3765682	T	C	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.803;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=-0.955;SOR=1.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765682;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|8/19|c.1231-27T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=515;p3_1000G_AF=0.102835;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=16436;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76333172;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=124,4276;ESP6500_AA_AGE=85.8+/-124.5;ESP6500_AA_GTC=3,118,2079;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=1.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=86;ESP6500_EA_AC=540,8052;ESP6500_EA_AGE=148.2+/-203.4;ESP6500_EA_GTC=18,504,3774;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:intron;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75867487;ESP6500_GTC=21,622,5853;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.1231-27T>C;ESP6500_MAF=6.2849,2.8182,5.1108;ESP6500_TAC=664,12328	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,10:32:99:0|1:75867487_T_C:255,0,570
chr1	75878326	rs1493367	C	A	602.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1493367;dbSNPBuildID=88;ANN=A|splice_region_variant&intron_variant|LOW|MSH4|MSH4|transcript|NM_002440.3|protein_coding|11/19|c.1540+8C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3970;p3_1000G_AF=0.792732;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=17901;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.7515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76344011;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3108,1298;ESP6500_AA_AGE=438.4+/-345.3;ESP6500_AA_GTC=1103,902,198;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=0.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=68;ESP6500_EA_AC=6531,2069;ESP6500_EA_AGE=357.5+/-330.8;ESP6500_EA_GTC=2496,1539,265;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:intron;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75878326;ESP6500_GTC=3599,2441,463;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.1540+8C>A;ESP6500_MAF=24.0581,29.4598,25.8881;ESP6500_TAC=9639,3367	GT:AD:DP:GQ:PL	1/1:0,20:20:60:631,60,0
chr1	75879020	rs5745448	T	C	522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.863;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=2.083;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=-0.803;SOR=0.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5745448;dbSNPBuildID=114;ANN=C|synonymous_variant|LOW|MSH4|MSH4|transcript|NM_002440.3|protein_coding|12/20|c.1569T>C|p.Tyr523Tyr|1684/3277|1569/2811|523/936||;p3_1000G_AA=T|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=16425;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.3022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76344705;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=380,4026;ESP6500_AA_AGE=189.2+/-215.4;ESP6500_AA_GTC=14,352,1837;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=-3.1;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=85;ESP6500_EA_AC=2784,5814;ESP6500_EA_AGE=440.8+/-359.6;ESP6500_EA_GTC=452,1880,1967;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:coding-synonymous;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75879020;ESP6500_GTC=466,2232,3804;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.1569T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002440.3:p.(Y523);ESP6500_MAF=32.3796,8.6246,24.331;ESP6500_TAC=3164,9840	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,31:70:99:0|1:75879020_T_C:551,0,944
chr1	75879026	rs5745449	A	T	2494.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5745449;dbSNPBuildID=114;ANN=T|synonymous_variant|LOW|MSH4|MSH4|transcript|NM_002440.3|protein_coding|12/20|c.1575A>T|p.Leu525Leu|1690/3277|1575/2811|525/936||;p3_1000G_AA=T|||;p3_1000G_AC=3970;p3_1000G_AF=0.792732;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=16596;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.7515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76344711;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3110,1296;ESP6500_AA_AGE=437.8+/-345.1;ESP6500_AA_GTC=1104,902,197;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=87;ESP6500_EA_AC=6533,2065;ESP6500_EA_AGE=358.0+/-331.0;ESP6500_EA_GTC=2496,1541,262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:coding-synonymous;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75879026;ESP6500_GTC=3600,2443,459;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.1575A>T;ESP6500_HGVS_PROTEIN_VAR=NM_002440.3:p.(L525);ESP6500_MAF=24.0172,29.4144,25.8459;ESP6500_TAC=9643,3361	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,70:70:99:1|1:75879020_T_C:2523,210,0
chr1	75879171	rs5745451	T	C	832.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.4;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.51;ReadPosRankSum=0.586;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5745451;dbSNPBuildID=114;ANN=C|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|12/19|c.1677+43T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1164;p3_1000G_AF=0.232428;p3_1000G_AFR_AF=0.32;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=15086;p3_1000G_EAS_AF=0.2679;p3_1000G_EUR_AF=0.1412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76344856;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1240,3162;ESP6500_AA_AGE=416.5+/-337.6;ESP6500_AA_GTC=185,870,1146;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=41;ESP6500_EA_AC=1182,7408;ESP6500_EA_AGE=236.4+/-268.6;ESP6500_EA_GTC=81,1020,3194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:intron;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75879171;ESP6500_GTC=266,1890,4340;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.1677+43T>C;ESP6500_MAF=13.7602,28.169,18.6422;ESP6500_TAC=2422,10570	GT:AD:DP:GQ:PL	0/1:12,25:37:99:861,0,245
chr1	75879235	rs5745453	G	A	464.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5745453;dbSNPBuildID=114;ANN=A|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|12/19|c.1677+107G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4790;p3_1000G_AF=0.95647;p3_1000G_AFR_AF=0.8411;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=16060;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76344920;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:493,42,0
chr1	75879247	rs5745454	A	G	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.054;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=0.21;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5745454;dbSNPBuildID=114;ANN=G|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|12/19|c.1677+119A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1691;p3_1000G_AF=0.33766;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=16223;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76344932;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:101,0,195
chr1	75879955	rs2307077	G	T	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2307077;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|12/19|c.1678-95G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2806;p3_1000G_AF=0.560304;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=17358;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.6103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76345640;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:62:62,0,76
chr1	75880199	rs2307078	T	A	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.287;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=10.139;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.57;SOR=0.322;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2307078;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|13/19|c.1781+46T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=15979;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76345884;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=331,3893;ESP6500_AA_GTC=14,303,1795;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=2588,5798;ESP6500_EA_GTC=426,1736,2031;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:intron;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75880199;ESP6500_GTC=440,2039,3826;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.1781+46T>A;ESP6500_MAF=30.861,7.8362,23.1483;ESP6500_TAC=2919,9691	GT:AD:DP:GQ:PL	0/1:12,13:25:99:296,0,356
chr1	75881147	rs5745465	T	C	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.471;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-2.198;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5745465;dbSNPBuildID=114;ANN=C|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|13/19|c.1782-99T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=507;p3_1000G_AF=0.101238;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=15416;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.0636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76346832;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:188,0,188
chr1	75881235	rs5745466	C	CAT	2462.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=1.412;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5745466;dbSNPBuildID=114;ANN=CAT|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|13/19|c.1782-11_1782-10insAT||||||;p3_1000G_AC=4791;p3_1000G_AF=0.956669;p3_1000G_AFR_AF=0.8411;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=16872;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76346920;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3723,543;ESP6500_AA_GTC=1629,465,39;ESP6500_CDS_SIZES=NM_002440.3:2811;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=127;ESP6500_EA_AC=8238,14;ESP6500_EA_GTC=4112,14,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002440.3:intron;ESP6500_GL=MSH4;ESP6500_GRCh38_POSITION=1:75881235;ESP6500_GTC=5741,479,39;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002440.3:c.1782-11_1782-10insAT;ESP6500_MAF=0.1697,12.7286,4.4496;ESP6500_TAC=11961,557	GT:AD:DP:GQ:PL	1/1:0,56:56:99:2500,169,0
chr1	75899506	rs5745544	C	A	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=-0.385;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5745544;dbSNPBuildID=114;ANN=A|intron_variant|MODIFIER|MSH4|MSH4|transcript|NM_002440.3|protein_coding|18/19|c.2531-112C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1446;p3_1000G_AF=0.288738;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=13064;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.2366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76365191;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:71:71,0,107
chr1	75922063	rs12567390	T	A	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.68;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.487;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12567390;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ASB17|ASB17|transcript|NM_080868.2|protein_coding|2/2|c.681+17A>T||||||,A|intron_variant|MODIFIER|ASB17|ASB17|transcript|NR_026546.1|pseudogene|2/2|n.759+17A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=1686;p3_1000G_AF=0.336661;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=16061;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.3032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76387748;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=297,4109;ESP6500_AA_GTC=11,275,1917;ESP6500_CDS_SIZES=NM_080868.2:888;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=31;ESP6500_EA_AC=2669,5931;ESP6500_EA_GTC=454,1761,2085;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080868.2:intron;ESP6500_GL=ASB17;ESP6500_GRCh38_POSITION=1:75922063;ESP6500_GTC=465,2036,4002;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_080868.2:c.681+17A>T;ESP6500_MAF=31.0349,6.7408,22.8049;ESP6500_TAC=2966,10040	GT:AD:DP:GQ:PL	0/1:13,14:27:99:415,0,374
chr1	75932287	rs3795251	C	T	471.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.037;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.547;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.14;SOR=1.3;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795251;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|ASB17|ASB17|transcript|NM_080868.2|protein_coding|1/3|c.5G>A|p.Ser2Asn|145/1107|5/888|2/295||,T|non_coding_transcript_exon_variant|MODIFIER|ASB17|ASB17|transcript|NR_026546.1|pseudogene|1/3|n.145G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1986;p3_1000G_AF=0.396565;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=19811;p3_1000G_EAS_AF=0.7073;p3_1000G_EUR_AF=0.3221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76397972;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=873,3519;ESP6500_AA_GTC=86,701,1409;ESP6500_CDS_SIZES=NM_080868.2:888;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=44;ESP6500_EA_AC=3022,5566;ESP6500_EA_GTC=543,1936,1815;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080868.2:missense;ESP6500_GL=ASB17;ESP6500_GRCh38_POSITION=1:75932287;ESP6500_GS=46;ESP6500_GTC=629,2637,3224;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080868.2:c.5G>A;ESP6500_HGVS_PROTEIN_VAR=NM_080868.2:p.(S2N);ESP6500_MAF=35.1886,19.877,30.0077;ESP6500_PH=benign:0.002;ESP6500_TAC=3895,9085	GT:AD:DP:GQ:PL	0/1:20,16:36:99:500,0,601
chr1	76412471	rs17098942	C	T	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.457;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.47;ReadPosRankSum=0.954;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17098942;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|ST6GALNAC3|ST6GALNAC3|transcript|NM_152996.2|protein_coding|3/4|c.623+54C>T||||||,T|intron_variant|MODIFIER|ST6GALNAC3|ST6GALNAC3|transcript|NM_001160011.1|protein_coding|3/3|c.623+54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1262;p3_1000G_AF=0.251997;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=18205;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=76878156;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,19:27:99:554,0,192
chr1	77092372	rs1048575	G	C	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.348;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.115;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1048575;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|PIGK|PIGK|transcript|NM_005482.2|protein_coding|11/11|c.*2C>G|||||2|;p3_1000G_AA=G|||;p3_1000G_AC=1791;p3_1000G_AF=0.357628;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=15461;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.2455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=77558057;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1824,2582;ESP6500_AA_AGE=522.7+/-370.9;ESP6500_AA_GTC=371,1082,750;ESP6500_CDS_SIZES=NM_005482.2:1188;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=58;ESP6500_EA_AC=2054,6546;ESP6500_EA_AGE=352.9+/-328.9;ESP6500_EA_GTC=248,1558,2494;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005482.2:utr-3;ESP6500_GL=PIGK;ESP6500_GRCh38_POSITION=1:77092372;ESP6500_GTC=619,2640,3244;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005482.2:c.*2C>G;ESP6500_MAF=23.8837,41.3981,29.817;ESP6500_TAC=3878,9128	GT:AD:DP:GQ:PL	0/1:8,9:17:99:223,0,168
chr1	77154350	rs839832	T	C	604.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs839832;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PIGK|PIGK|transcript|NM_005482.2|protein_coding|9/10|c.986+99A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4950;p3_1000G_AF=0.988419;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19762;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=77620035;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:633,51,0
chr1	77161411	rs839825	G	A	1119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs839825;dbSNPBuildID=86;ANN=A|splice_region_variant&intron_variant|LOW|PIGK|PIGK|transcript|NM_005482.2|protein_coding|7/10|c.703-6C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4951;p3_1000G_AF=0.988618;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19574;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=77627096;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4240,160;ESP6500_AA_AGE=99.8+/-138.5;ESP6500_AA_GTC=2046,148,6;ESP6500_CDS_SIZES=NM_005482.2:1188;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=59;ESP6500_EA_AC=8597,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4298,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005482.2:intron;ESP6500_GL=PIGK;ESP6500_GRCh38_POSITION=1:77161411;ESP6500_GTC=6344,149,6;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005482.2:c.703-6C>T;ESP6500_MAF=0.0116,3.6364,1.2387;ESP6500_TAC=12837,161	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1148,105,0
chr1	77169263	rs1779199	G	A	635.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.45;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1779199;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|PIGK|PIGK|transcript|NM_005482.2|protein_coding|4/11|c.372C>T|p.Tyr124Tyr|417/4625|372/1188|124/395||;p3_1000G_AA=A|||;p3_1000G_AC=4941;p3_1000G_AF=0.986621;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=14094;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=77634948;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4188,218;ESP6500_AA_AGE=130.2+/-166.9;ESP6500_AA_GTC=1992,204,7;ESP6500_CDS_SIZES=NM_005482.2:1188;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=76;ESP6500_EA_AC=8597,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4298,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005482.2:coding-synonymous;ESP6500_GL=PIGK;ESP6500_GRCh38_POSITION=1:77169263;ESP6500_GTC=6290,205,7;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005482.2:c.372C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005482.2:p.(Y124);ESP6500_MAF=0.0116,4.9478,1.6841;ESP6500_TAC=12785,219	GT:AD:DP:GQ:PL	1/1:0,26:26:77:664,77,0
chr1	77210406	rs762385040	C	T	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.191;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.34;ReadPosRankSum=-0.301;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|PIGK|PIGK|transcript|NM_005482.2|protein_coding|2/10|c.147+30G>A||||||	GT:AD:DP:GQ:PL	0/1:8,3:11:54:54,0,199
chr1	77219357	rs12723684	T	C	892.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.153;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.194;SOR=0.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12723684;dbSNPBuildID=121;ANN=C|missense_variant|MODERATE|PIGK|PIGK|transcript|NM_005482.2|protein_coding|1/11|c.46A>G|p.Thr16Ala|91/4625|46/1188|16/395||;p3_1000G_AA=C|||;p3_1000G_AC=960;p3_1000G_AF=0.191693;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=16366;p3_1000G_EAS_AF=0.0387;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=77685042;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1673,2733;ESP6500_AA_AGE=639.8+/-397.2;ESP6500_AA_GTC=324,1025,854;ESP6500_CDS_SIZES=NM_005482.2:1188;ESP6500_CG=4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=34;ESP6500_EA_AC=664,7934;ESP6500_EA_AGE=771.4+/-407.7;ESP6500_EA_GTC=28,608,3663;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005482.2:missense;ESP6500_GL=PIGK;ESP6500_GRCh38_POSITION=1:77219357;ESP6500_GS=58;ESP6500_GTC=352,1633,4517;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005482.2:c.46A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005482.2:p.(T16A);ESP6500_MAF=7.7227,37.9709,17.9714;ESP6500_PH=benign:0.0;ESP6500_TAC=2337,10667	GT:AD:DP:GQ:PL	0/1:38,38:76:99:921,0,947
chr1	77558477	rs10700476;rs386367395;rs59511004	T	TGG	80.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.75;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10700476,rs59511004;dbSNPBuildID=135,138,129;ANN=TGG|downstream_gene_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_015534.5|protein_coding||c.*7161_*7162dupCC|||||3938|,TGG|downstream_gene_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_001308237.1|protein_coding||c.*7161_*7162dupCC|||||3938|,TGG|intron_variant|MODIFIER|AK5|AK5|transcript|NM_174858.2|protein_coding|13/13|c.1621-118_1621-117dupGG||||||INFO_REALIGN_3_PRIME,TGG|intron_variant|MODIFIER|AK5|AK5|transcript|NM_012093.3|protein_coding|13/13|c.1543-118_1543-117dupGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2202;p3_1000G_AF=0.439696;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=16574;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.5219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78024162;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:117,9,0
chr1	77558599	rs6675743;402358	T	C	500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6675743;dbSNPBuildID=116;ANN=C|splice_region_variant&intron_variant|LOW|AK5|AK5|transcript|NM_174858.2|protein_coding|13/13|c.1621-3T>C||||||,C|splice_region_variant&intron_variant|LOW|AK5|AK5|transcript|NM_012093.3|protein_coding|13/13|c.1543-3T>C||||||,C|downstream_gene_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_015534.5|protein_coding||c.*7041A>G|||||3817|,C|downstream_gene_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_001308237.1|protein_coding||c.*7041A>G|||||3817|;p3_1000G_AA=C|||;p3_1000G_AC=3432;p3_1000G_AF=0.685304;p3_1000G_AFR_AF=0.5401;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=18168;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.7614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78024284;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6391;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2647,1759;ESP6500_AA_AGE=519.0+/-369.9;ESP6500_AA_GTC=794,1059,350;ESP6500_CDS_SIZES=NM_174858.2:1689,NM_012093.3:1611;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=63;ESP6500_EA_AC=6676,1924;ESP6500_EA_AGE=338.9+/-322.9;ESP6500_EA_GTC=2604,1468,228;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174858.2:intron,NM_012093.3:intron;ESP6500_GL=AK5;ESP6500_GRCh38_POSITION=1:77558599;ESP6500_GTC=3398,2527,578;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_174858.2:c.1621-3T>C,NM_012093.3:c.1543-3T>C;ESP6500_MAF=22.3721,39.9228,28.3177;ESP6500_TAC=9323,3683;CLINVAR_ALLELEID=389472;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.77558599T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AK5:26289;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6675743	GT:AD:DP:GQ:PL	1/1:0,17:17:51:529,51,0
chr1	77558660	rs79671213;~rs71756472;402359	C	CTAT	817.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=0.793;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs79671213;dbSNPBuildID=131;ANN=CTAT|conservative_inframe_insertion|MODERATE|AK5|AK5|transcript|NM_174858.2|protein_coding|14/14|c.1681_1683dupATT|p.Ile561dup|2021/3325|1684/1689|562/562||INFO_REALIGN_3_PRIME,CTAT|conservative_inframe_insertion|MODERATE|AK5|AK5|transcript|NM_012093.3|protein_coding|14/14|c.1603_1605dupATT|p.Ile535dup|2632/3936|1606/1611|536/536||INFO_REALIGN_3_PRIME,CTAT|downstream_gene_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_015534.5|protein_coding||c.*6977_*6979dupATA|||||3755|,CTAT|downstream_gene_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_001308237.1|protein_coding||c.*6977_*6979dupATA|||||3755|;p3_1000G_AC=3103;p3_1000G_AF=0.619609;p3_1000G_AFR_AF=0.326;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=19811;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.7465;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78024345;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=INDEL;ESP6500_AA_AC=1762,2504;ESP6500_AA_GTC=378,1006,749;ESP6500_CDS_SIZES=NM_174858.2:1689,NM_012093.3:1611;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=95;ESP6500_EA_AC=6253,2001;ESP6500_EA_GTC=2372,1509,246;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_174858.2:coding,NM_012093.3:coding;ESP6500_GL=AK5;ESP6500_GRCh38_POSITION=1:77558660;ESP6500_GTC=2750,2515,995;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_174858.2:c.1679_1680insTAT,NM_012093.3:c.1601_1602insTAT;ESP6500_HGVS_PROTEIN_VAR=NM_174858.2:p.(S560delinsSI),NM_012093.3:p.(S534delinsSI);ESP6500_MAF=24.2428,41.3033,35.9824;ESP6500_TAC=8015,4505;CLINVAR_ALLELEID=390495;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.77558662_77558664dupATT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_GENEINFO=AK5:26289;CLINVAR_ORIGIN=1;CLINVAR_RS=6485	GT:AD:DP:GQ:PL	1/1:0,19:19:57:855,57,0
chr1	77566309	rs7552291	A	G	608.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7552291;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_015534.5|protein_coding|13/14|c.2467-128T>C||||||,G|intron_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_001308237.1|protein_coding|12/13|c.985-128T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2729;p3_1000G_AF=0.544928;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=18865;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.7087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78031994;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:637,54,0
chr1	77568296	rs145860524;rs530314782	AAAATG	A	268.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs145860524;dbSNPBuildID=134,142;ANN=A|intron_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_015534.5|protein_coding|13/14|c.2466+31_2466+35delCATTT||||||,A|intron_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_001308237.1|protein_coding|12/13|c.984+31_984+35delCATTT||||||;p3_1000G_AC=2685;p3_1000G_AF=0.536142;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=13969;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.7078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78033981;p3_1000G_GRCH37_REF=AAAATG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=INDEL;ESP6500_AA_AC=1539,2721;ESP6500_AA_GTC=308,923,899;ESP6500_CDS_SIZES=NM_015534.4:2712;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=29;ESP6500_EA_AC=5969,2261;ESP6500_EA_GTC=2188,1593,334;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015534.4:intron;ESP6500_GL=ZZZ3;ESP6500_GRCh38_POSITION=1:77568296;ESP6500_GTC=2496,2516,1233;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015534.4:c.2466+31_2466+35del5;ESP6500_MAF=27.4727,36.1268,39.8879;ESP6500_TAC=7508,4982	GT:AD:DP:GQ:PL	1/1:0,7:7:21:306,21,0
chr1	77579684	rs1565852	G	A	123.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1565852;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_015534.5|protein_coding|9/14|c.1981-56C>T||||||,A|intron_variant|MODIFIER|ZZZ3|ZZZ3|transcript|NM_001308237.1|protein_coding|8/13|c.499-56C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3171;p3_1000G_AF=0.633187;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=15123;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78045369;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:151,12,0
chr1	77807217	rs4949822	G	A	545.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4949822;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MIGA1|MIGA1|transcript|NM_001270384.1|protein_coding|5/15|c.637+116G>A||||||,A|intron_variant|MODIFIER|MIGA1|MIGA1|transcript|NM_198549.3|protein_coding|5/15|c.637+116G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2867;p3_1000G_AF=0.572484;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=17474;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.7187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78272902;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:574,51,0
chr1	77811910	rs2051160	T	C	127.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2051160;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|MIGA1|MIGA1|transcript|NM_001270384.1|protein_coding|5/15|c.638-1824T>C||||||,C|intron_variant|MODIFIER|MIGA1|MIGA1|transcript|NM_198549.3|protein_coding|5/15|c.638-1824T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=4974;p3_1000G_AF=0.993211;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=8758;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78277595;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:155,12,0
chr1	77917782	rs1749913	G	A	112.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.01;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1749913;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|NEXN|NEXN|transcript|NM_144573.3|protein_coding|3/12|c.219+25G>A||||||,A|intron_variant|MODIFIER|NEXN|NEXN|transcript|NM_001172309.1|protein_coding|2/11|c.28-178G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3825;p3_1000G_AF=0.763778;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=16444;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78383467;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2654,906;ESP6500_AA_GTC=986,682,112;ESP6500_CDS_SIZES=NM_144573.3:2028,NM_001172309.1:1836;ESP6500_CG=1.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=21;ESP6500_EA_AC=6940,1122;ESP6500_EA_GTC=2990,960,81;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144573.3:intron,NM_001172309.1:intron;ESP6500_GL=NEXN;ESP6500_GRCh38_POSITION=1:77917782;ESP6500_GTC=3976,1642,193;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144573.3:c.219+25G>A,NM_001172309.1:c.28-178G>A;ESP6500_MAF=13.9171,25.4494,17.4497;ESP6500_TAC=9594,2028	GT:AD:DP:GQ:PL	1/1:0,4:4:12:140,12,0
chr1	77926436	rs372065024;201917	T	C	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.619;SOR=0.937;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372065024;dbSNPBuildID=138;ANN=C|missense_variant|MODERATE|NEXN|NEXN|transcript|NM_144573.3|protein_coding|7/13|c.512T>C|p.Ile171Thr|809/3389|512/2028|171/675||,C|missense_variant|MODERATE|NEXN|NEXN|transcript|NM_001172309.1|protein_coding|6/12|c.320T>C|p.Ile107Thr|617/3197|320/1836|107/611||;p3_1000G_AA=T|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16989;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78392121;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2,3576;ESP6500_AA_GTC=0,2,1787;ESP6500_CDS_SIZES=NM_144573.3:2028,NM_001172309.1:1836;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=52;ESP6500_EA_AC=0,8114;ESP6500_EA_GTC=0,0,4057;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144573.3:missense,NM_001172309.1:missense;ESP6500_GL=NEXN;ESP6500_GRCh38_POSITION=1:77926436;ESP6500_GS=89,89;ESP6500_GTC=0,2,5844;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144573.3:c.512T>C,NM_001172309.1:c.320T>C;ESP6500_HGVS_PROTEIN_VAR=NM_144573.3:p.(I171T),NM_001172309.1:p.(I107T);ESP6500_MAF=0.0,0.0559,0.0171;ESP6500_PH=benign:0.076,benign:0.076;ESP6500_TAC=2,11690;CLINVAR_AF_ESP=0.0002;CLINVAR_AF_EXAC=0.00068;CLINVAR_AF_TGP=0.0018;CLINVAR_ALLELEID=198078;CLINVAR_CLNDISDB=MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.77926436T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEXN:91624;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=372065024	GT:AD:DP:GQ:PL	0/1:20,12:32:99:313,0,500
chr1	77933522	rs4483454	C	G	1090.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4483454;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NEXN|NEXN|transcript|NM_144573.3|protein_coding|10/12|c.1251+43C>G||||||,G|intron_variant|MODIFIER|NEXN|NEXN|transcript|NM_001172309.1|protein_coding|9/11|c.1059+43C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3328;p3_1000G_AF=0.664537;p3_1000G_AFR_AF=0.4327;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=14270;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.8131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78399207;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1785,1783;ESP6500_AA_GTC=431,923,430;ESP6500_CDS_SIZES=NM_144573.3:2028,NM_001172309.1:1836;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=11;ESP6500_EA_AC=6528,1466;ESP6500_EA_GTC=2694,1140,163;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144573.3:intron,NM_001172309.1:intron;ESP6500_GL=NEXN;ESP6500_GRCh38_POSITION=1:77933522;ESP6500_GTC=3125,2063,593;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_144573.3:c.1251+43C>G,NM_001172309.1:c.1059+43C>G;ESP6500_MAF=18.3388,49.972,28.1007;ESP6500_TAC=8313,3249	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1119,108,0
chr1	78005376	rs11384806	T	TC	381.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.599;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.27;ReadPosRankSum=0.498;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11384806;dbSNPBuildID=130;ANN=TC|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317099.1|protein_coding|2/3|c.211+55_211+56insC||||||,TC|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317100.1|protein_coding|2/3|c.92-7675_92-7674insC||||||,TC|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317101.1|protein_coding|1/2|c.-134-7675_-134-7674insC||||||,TC|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317102.1|protein_coding|1/2|c.-134-7675_-134-7674insC||||||,TC|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317103.1|protein_coding|1/1|c.211+55_211+56insC||||||,TC|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_007034.4|protein_coding|1/2|c.211+55_211+56insC||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4410;p3_1000G_AF=0.880591;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=16972;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78471060;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,13:14:33:419,33,0
chr1	78012991	rs3790586	G	A	583.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3790586;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317099.1|protein_coding|2/3|c.212-60G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317100.1|protein_coding|2/3|c.92-60G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317101.1|protein_coding|1/2|c.-134-60G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317102.1|protein_coding|1/2|c.-134-60G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317103.1|protein_coding|1/1|c.212-3023G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_007034.4|protein_coding|1/2|c.212-60G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3335;p3_1000G_AF=0.665935;p3_1000G_AFR_AF=0.4312;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=18219;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.8181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78478675;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:612,54,0
chr1	78015956	rs1039863	G	A	226.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1039863;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317099.1|protein_coding|3/3|c.781-58G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317100.1|protein_coding|3/3|c.661-58G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317101.1|protein_coding|2/2|c.436-58G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317102.1|protein_coding|2/2|c.436-58G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_001317103.1|protein_coding|1/1|c.212-58G>A||||||,A|intron_variant|MODIFIER|DNAJB4|DNAJB4|transcript|NM_007034.4|protein_coding|2/2|c.781-58G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3336;p3_1000G_AF=0.666134;p3_1000G_AFR_AF=0.4319;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=18320;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.8181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78481640;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:255,21,0
chr1	78119402	rs540742	T	C	434.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.514;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.017;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs540742;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|GIPC2|GIPC2|transcript|NM_017655.5|protein_coding|4/6|c.617T>C|p.Leu206Pro|807/3844|617/948|206/315||,C|missense_variant|MODERATE|GIPC2|GIPC2|transcript|NM_001304725.1|protein_coding|4/6|c.395T>C|p.Leu132Pro|510/3547|395/726|132/241||;p3_1000G_AA=C|||;p3_1000G_AC=1538;p3_1000G_AF=0.307109;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=18381;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.2266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78585086;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=990,3416;ESP6500_AA_AGE=731.6+/-410.3;ESP6500_AA_GTC=129,732,1342;ESP6500_CDS_SIZES=NM_017655.4:948;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=90;ESP6500_EA_AC=1878,6722;ESP6500_EA_AGE=726.7+/-406.6;ESP6500_EA_GTC=197,1484,2619;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017655.4:missense;ESP6500_GL=GIPC2;ESP6500_GRCh38_POSITION=1:78119402;ESP6500_GS=98;ESP6500_GTC=326,2216,3961;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017655.4:c.617T>C;ESP6500_HGVS_PROTEIN_VAR=NM_017655.4:p.(L206P);ESP6500_MAF=21.8372,22.4694,22.0514;ESP6500_PH=benign:0.0;ESP6500_TAC=2868,10138	GT:AD:DP:GQ:PL	0/1:20,20:40:99:463,0,495
chr1	78126056	rs139844601;rs368270114	TAAC	T	205.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.515;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.86;ReadPosRankSum=0.732;SOR=0.804;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs368270114,rs139844601;dbSNPBuildID=134,138;ANN=T|intron_variant|MODIFIER|GIPC2|GIPC2|transcript|NM_017655.5|protein_coding|5/5|c.796+97_796+99delCAA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|GIPC2|GIPC2|transcript|NM_001304725.1|protein_coding|5/5|c.574+97_574+99delCAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1433;p3_1000G_AF=0.286142;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=18292;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=78591740;p3_1000G_GRCH37_REF=TAAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,6:9:99:243,0,140
chr1	78628908	rs273257	A	G	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs273257;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|IFI44L|IFI44L|transcript|NM_006820.3|protein_coding|2/8|c.479-43A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4976;p3_1000G_AF=0.99361;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19097;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79094593;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4389,11;ESP6500_AA_AGE=15.5+/-35.6;ESP6500_AA_GTC=2189,11,0;ESP6500_CDS_SIZES=NM_006820.2:1359;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=51;ESP6500_EA_AC=8443,151;ESP6500_EA_AGE=71.0+/-133.6;ESP6500_EA_GTC=4147,149,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006820.2:intron;ESP6500_GL=IFI44L;ESP6500_GRCh38_POSITION=1:78628908;ESP6500_GTC=6336,160,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006820.2:c.479-43A>G;ESP6500_MAF=1.757,0.25,1.2467;ESP6500_TAC=12832,162	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1035,93,0
chr1	78662635	rs11577395	A	G	275.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11577395;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|IFI44|IFI44|transcript|NM_006417.4|protein_coding|7/8|c.1114-69A>G||||||,G|intron_variant|MODIFIER|IFI44|IFI44|transcript|NR_135640.1|pseudogene|5/5|n.673-1130A>G||||||,G|intron_variant|MODIFIER|IFI44|IFI44|transcript|NR_135641.1|pseudogene|6/7|n.1140-69A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2211;p3_1000G_AF=0.441494;p3_1000G_AFR_AF=0.5197;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=17961;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79128320;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:304,27,0
chr1	78662885	rs368139253;~rs67001034	G	GT	929.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.5;SOR=2.124;INS;HOM;VARTYPE=INS;dbSNPBuildID=138;ANN=GT|splice_region_variant&intron_variant|LOW|IFI44|IFI44|transcript|NM_006417.4|protein_coding|8/8|c.1288+7_1288+8insT||||||,GT|splice_region_variant&intron_variant|LOW|IFI44|IFI44|transcript|NR_135641.1|pseudogene|7/7|n.1314+7_1314+8insT||||||,GT|intron_variant|MODIFIER|IFI44|IFI44|transcript|NR_135640.1|pseudogene|5/5|n.673-880_673-879insT||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=2149;p3_1000G_AF=0.429113;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18913;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79128570;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=INDEL;ESP6500_AA_AC=2097,2169;ESP6500_AA_GTC=511,1075,547;ESP6500_CDS_SIZES=NM_006417.4:1335;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=161;ESP6500_EA_AC=3548,4706;ESP6500_EA_GTC=788,1972,1367;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006417.4:intron;ESP6500_GL=IFI44;ESP6500_GRCh38_POSITION=1:78662885;ESP6500_GTC=1299,3047,1914;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006417.4:c.1288+7_1288+8insT;ESP6500_MAF=42.9852,49.1561,45.0879;ESP6500_TAC=5645,6875	GT:AD:DP:GQ:PL	1/1:0,24:24:72:967,72,0
chr1	78889911	rs1061728	A	G	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=0.591;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1061728;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|15/15|c.*1243T>C|||||1243|;p3_1000G_AA=G|||;p3_1000G_AC=3798;p3_1000G_AF=0.758387;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=16159;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.7793;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79355596;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,5:17:99:123,0,347
chr1	78893058	rs10640737	C	CA	11.08	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=-0.598;SOR=2.093;INS;HET;VARTYPE=INS;dbSNP138_ID=rs33933765,rs10640737;dbSNPBuildID=138;ANN=CA|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|13/14|c.1841+39dupT||||||	GT:AD:DP:GQ:PL	0/1:3,3:6:48:48,0,51
chr1	78917615	rs397688783;rs5775467	CA	C	55.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-1.036;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5775467;dbSNPBuildID=130,138;ANN=C|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|12/14|c.1749+18delT||||||;p3_1000G_AA=AA|AA|A|deletion;p3_1000G_AC=2184;p3_1000G_AF=0.436102;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=11769;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.5388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79383300;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=INDEL;ESP6500_AA_AC=1142,2298;ESP6500_AA_GTC=207,728,785;ESP6500_CDS_SIZES=NM_022159.3:2073;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=25;ESP6500_EA_AC=4108,3632;ESP6500_EA_GTC=1053,2002,815;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022159.3:intron;ESP6500_GL=ELTD1;ESP6500_GRCh38_POSITION=1:78917615;ESP6500_GTC=1260,2730,1600;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_022159.3:c.1749+18del1;ESP6500_MAF=46.9251,33.1977,46.9589;ESP6500_TAC=5250,5930	GT:AD:DP:GQ:PL	0/1:3,3:6:92:93,0,92
chr1	78917773	rs12569007	A	T	1452.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=1.036;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12569007;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|11/14|c.1682+57T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3186;p3_1000G_AF=0.636182;p3_1000G_AFR_AF=0.5431;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=15971;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79383458;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1481,156,0
chr1	78927071	rs12754818	C	A	642.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.22;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12754818;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|8/15|c.898G>T|p.Val300Leu|1054/3619|898/2073|300/690||;p3_1000G_AA=A|||;p3_1000G_AC=3108;p3_1000G_AF=0.620607;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=16163;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79392756;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6626;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1884,1704;ESP6500_AA_GTC=511,862,421;ESP6500_CDS_SIZES=NM_022159.3:2073;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=52;ESP6500_EA_AC=5209,2935;ESP6500_EA_GTC=1644,1921,507;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022159.3:missense;ESP6500_GL=ELTD1;ESP6500_GRCh38_POSITION=1:78927071;ESP6500_GS=32;ESP6500_GTC=2155,2783,928;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_022159.3:c.898G>T;ESP6500_HGVS_PROTEIN_VAR=NM_022159.3:p.(V300L);ESP6500_MAF=36.0388,47.4916,39.5414;ESP6500_PH=benign:0.0;ESP6500_TAC=7093,4639	GT:AD:DP:GQ:PL	1/1:0,22:22:66:671,66,0
chr1	78936242	rs61770681	A	G	476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.05;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61770681;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|7/14|c.877+53T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3109;p3_1000G_AF=0.620807;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=16953;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.6193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79401927;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:505,51,0
chr1	78937765	rs3811438	T	C	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.38;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811438;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|6/14|c.760+42A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=678;p3_1000G_AF=0.135383;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=20476;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79403450;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=362,3290;ESP6500_AA_GTC=23,316,1487;ESP6500_CDS_SIZES=NM_022159.3:2073;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=61;ESP6500_EA_AC=579,7587;ESP6500_EA_GTC=23,533,3527;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022159.3:intron;ESP6500_GL=ELTD1;ESP6500_GRCh38_POSITION=1:78937765;ESP6500_GTC=46,849,5014;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022159.3:c.760+42A>G;ESP6500_MAF=7.0904,9.9124,7.9624;ESP6500_TAC=941,10877	GT:AD:DP:GQ:PL	0/1:8,5:13:99:174,0,253
chr1	78938066	rs985277	T	G	2462.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=0.824;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs985277;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|5/14|c.576+34A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2966;p3_1000G_AF=0.592252;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=18105;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79403751;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1794,1836;ESP6500_AA_GTC=467,860,488;ESP6500_CDS_SIZES=NM_022159.3:2073;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=77;ESP6500_EA_AC=4789,3363;ESP6500_EA_GTC=1450,1889,737;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022159.3:intron;ESP6500_GL=ELTD1;ESP6500_GRCh38_POSITION=1:78938066;ESP6500_GTC=1917,2749,1225;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_022159.3:c.576+34A>C;ESP6500_MAF=41.2537,49.4215,44.1266;ESP6500_TAC=6583,5199	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2491,237,0
chr1	78939094	rs7526334	T	A	127.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7526334;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|4/14|c.396+94A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=678;p3_1000G_AF=0.135383;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=16298;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79404779;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:156,15,0
chr1	78946203	rs723898	T	C	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.712;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs723898;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|3/14|c.325+71A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2287;p3_1000G_AF=0.456669;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=16680;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.5368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79411888;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:137,0,159
chr1	78946266	rs11162579	G	A	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.854;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.128;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11162579;dbSNPBuildID=120;ANN=A|splice_region_variant&intron_variant|LOW|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|3/14|c.325+8C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=680;p3_1000G_AF=0.135783;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=16266;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.0467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79411951;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=366,3338;ESP6500_AA_GTC=22,322,1508;ESP6500_CDS_SIZES=NM_022159.3:2073;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=79;ESP6500_EA_AC=587,7605;ESP6500_EA_GTC=23,541,3532;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022159.3:intron;ESP6500_GL=ELTD1;ESP6500_GRCh38_POSITION=1:78946266;ESP6500_GTC=45,863,5040;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022159.3:c.325+8C>T;ESP6500_MAF=7.1655,9.8812,8.0111;ESP6500_TAC=953,10943	GT:AD:DP:GQ:PL	0/1:14,14:28:99:373,0,328
chr1	79006456	rs1571992	C	A	23.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.712;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1571992;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ADGRL4|ADGRL4|transcript|NM_022159.3|protein_coding|1/14|c.22+177G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3262;p3_1000G_AF=0.651358;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=17091;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.7475;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79472141;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:52:52,0,156
chr1	81501854	rs6663514	A	G	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.127;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=6.631;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.18;SOR=0.09;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6663514;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|LOC101927412-LOC101927434|LOC101927412-LOC101927434|intergenic_region|LOC101927412-LOC101927434|||n.81501854A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=100;p3_1000G_AF=0.0199681;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=14766;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=81967539;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,15:27:99:414,0,362
chr1	81502087	rs4083533	C	T	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.64;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.58;MQRankSum=-3.361;QD=7.98;ReadPosRankSum=-1.426;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4083533;dbSNPBuildID=108;ANN=T|intergenic_region|MODIFIER|LOC101927412-LOC101927434|LOC101927412-LOC101927434|intergenic_region|LOC101927412-LOC101927434|||n.81502087C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=2477;p3_1000G_AF=0.494609;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=14570;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=81967772;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:132,0,214
chr1	81502277	rs1044343	T	C	912.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.442;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.983;MLEAC=1;MLEAF=0.5;MQ=53.9;MQRankSum=-2.789;QD=16.6;ReadPosRankSum=1.01;SOR=0.323;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1044343;dbSNPBuildID=88;ANN=C|intergenic_region|MODIFIER|LOC101927412-LOC101927434|LOC101927412-LOC101927434|intergenic_region|LOC101927412-LOC101927434|||n.81502277T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=2587;p3_1000G_AF=0.516573;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=15214;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=81967962;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,36:55:99:941,0,443
chr1	81502302	rs1324376	T	C	1007.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.25;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.059;MLEAC=1;MLEAF=0.5;MQ=55.63;MQRankSum=-3.265;QD=17.08;ReadPosRankSum=2.08;SOR=0.496;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1324376;dbSNPBuildID=88;ANN=C|intergenic_region|MODIFIER|LOC101927412-LOC101927434|LOC101927412-LOC101927434|intergenic_region|LOC101927412-LOC101927434|||n.81502302T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=2564;p3_1000G_AF=0.511981;p3_1000G_AFR_AF=0.7481;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=16503;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=81967987;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,39:59:99:1036,0,454
chr1	81502835	rs6666988	A	G	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=9.267;MLEAC=1;MLEAF=0.5;MQ=56.73;MQRankSum=-5.071;QD=8.57;ReadPosRankSum=0.807;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6666988;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|LOC101927412-LOC101927434|LOC101927412-LOC101927434|intergenic_region|LOC101927412-LOC101927434|||n.81502835A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=3016;p3_1000G_AF=0.602236;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=15468;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=81968520;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,17:45:99:414,0,733
chr1	81950130	rs9438715	T	C	314.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9438715;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297704.1|protein_coding|6/20|c.1199-59T>C||||||,C|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297705.1|protein_coding|5/21|c.1199-59T>C||||||,C|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297706.1|protein_coding|5/18|c.1199-59T>C||||||,C|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_012302.3|protein_coding|5/19|c.1199-59T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4976;p3_1000G_AF=0.99361;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19793;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=82415814;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:343,30,0
chr1	81950536	rs2148630	G	A	158.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2148630;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297704.1|protein_coding|7/20|c.1492+54G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297705.1|protein_coding|6/21|c.1492+54G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297706.1|protein_coding|6/18|c.1492+54G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_012302.3|protein_coding|6/19|c.1492+54G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3796;p3_1000G_AF=0.757987;p3_1000G_AFR_AF=0.7995;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=19141;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=82416220;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:187,15,0
chr1	81951868	rs7413275	T	G	183.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.15;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7413275;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297704.1|protein_coding|8/20|c.1597-89T>G||||||,G|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297705.1|protein_coding|7/21|c.1597-89T>G||||||,G|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297706.1|protein_coding|7/18|c.1597-89T>G||||||,G|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_012302.3|protein_coding|7/19|c.1597-89T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3319;p3_1000G_AF=0.66274;p3_1000G_AFR_AF=0.6573;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=16006;p3_1000G_EAS_AF=0.7361;p3_1000G_EUR_AF=0.5815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=82417552;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:212,15,0
chr1	81955912	rs11163397	C	T	878.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11163397;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ADGRL2|ADGRL2|transcript|NM_001297704.1|protein_coding|10/21|c.1818C>T|p.Pro606Pro|1999/5986|1818/4212|606/1403||,T|synonymous_variant|LOW|ADGRL2|ADGRL2|transcript|NM_001297705.1|protein_coding|9/22|c.1818C>T|p.Pro606Pro|2034/6127|1818/3534|606/1177||,T|synonymous_variant|LOW|ADGRL2|ADGRL2|transcript|NM_001297706.1|protein_coding|9/19|c.1818C>T|p.Pro606Pro|2034/5924|1818/3372|606/1123||,T|synonymous_variant|LOW|ADGRL2|ADGRL2|transcript|NM_012302.3|protein_coding|9/20|c.1818C>T|p.Pro606Pro|2034/6021|1818/4212|606/1403||;p3_1000G_AA=T|||;p3_1000G_AC=4978;p3_1000G_AF=0.99401;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19571;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=82421596;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4302,104;ESP6500_AA_AGE=80.9+/-119.3;ESP6500_AA_GTC=2103,96,4;ESP6500_CDS_SIZES=NM_012302.2:4212;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=119;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012302.2:coding-synonymous;ESP6500_GL=LPHN2;ESP6500_GRCh38_POSITION=1:81955912;ESP6500_GTC=6403,96,4;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012302.2:c.1818C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012302.2:p.(P606);ESP6500_MAF=0.0,2.3604,0.7996;ESP6500_TAC=12902,104	GT:AD:DP:GQ:PL	1/1:0,27:27:81:907,81,0
chr1	81970597	rs1327022	G	A	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1327022;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297704.1|protein_coding|15/20|c.2903+63G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297705.1|protein_coding|14/21|c.2903+63G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297706.1|protein_coding|14/18|c.2903+63G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_012302.3|protein_coding|14/19|c.2903+63G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2470;p3_1000G_AF=0.493211;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.4726;p3_1000G_AN=5008;p3_1000G_DP=16180;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=82436281;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:64:133,0,64
chr1	81971986	rs144957268	ATTTGT	A	31.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.53;ReadPosRankSum=-1.981;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs144957268;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297704.1|protein_coding|16/20|c.2970+72_2970+76delGTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297705.1|protein_coding|15/21|c.2970+72_2970+76delGTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297706.1|protein_coding|15/18|c.2970+72_2970+76delGTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_012302.3|protein_coding|15/19|c.2970+72_2970+76delGTTTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1235;p3_1000G_AF=0.246605;p3_1000G_AFR_AF=0.2534;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=15502;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.337;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=82437670;p3_1000G_GRCH37_REF=ATTTGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=INDEL;ESP6500_AA_AC=1017,3245;ESP6500_AA_GTC=148,721,1262;ESP6500_CDS_SIZES=NM_012302.2:4212;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=91;ESP6500_EA_AC=2310,5920;ESP6500_EA_GTC=374,1562,2179;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012302.2:intron;ESP6500_GL=LPHN2;ESP6500_GRCh38_POSITION=1:81971986;ESP6500_GTC=522,2283,3441;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_012302.2:c.2970+69_2970+73del5;ESP6500_MAF=28.068,23.862,26.633;ESP6500_TAC=3327,9165	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,2:7:69:0|1:81971986_ATTTGT_A:69,0,555
chr1	81971998	rs41292976	G	A	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=-1.981;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41292976;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297704.1|protein_coding|16/20|c.2970+80G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297705.1|protein_coding|15/21|c.2970+80G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297706.1|protein_coding|15/18|c.2970+80G>A||||||,A|intron_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_012302.3|protein_coding|15/19|c.2970+80G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1320;p3_1000G_AF=0.263578;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=13729;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.337;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=82437682;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,2:7:69:0|1:81971986_ATTTGT_A:69,0,555
chr1	81991246	rs7536425	T	G	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=0.524;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7536425;dbSNPBuildID=116;ANN=G|3_prime_UTR_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297704.1|protein_coding|21/21|c.*101T>G|||||101|,G|3_prime_UTR_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297705.1|protein_coding|22/22|c.*885T>G|||||1566|,G|3_prime_UTR_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_001297706.1|protein_coding|19/19|c.*844T>G|||||844|,G|3_prime_UTR_variant|MODIFIER|ADGRL2|ADGRL2|transcript|NM_012302.3|protein_coding|20/20|c.*101T>G|||||101|;p3_1000G_AA=T|||;p3_1000G_AC=585;p3_1000G_AF=0.116813;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=17136;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=82456930;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:109,0,165
chr1	83917808	rs12135028	T	C	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12135028;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TTLL7|TTLL7|transcript|NM_024686.4|protein_coding|13/20|c.1501-118A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1110;p3_1000G_AF=0.221645;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=15739;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.3101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84383491;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:70:72,0,70
chr1	84175008	rs582201	T	G	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs582201;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_182948.3|protein_coding|1/9|c.188-4169T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_207578.2|protein_coding|1/8|c.47-4169T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_002731.3|protein_coding|1/9|c.47-4169T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001300916.1|protein_coding|1/8|c.188-4169T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001300917.1|protein_coding|1/8|c.11-4169T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242857.2|protein_coding|2/12|c.35-25T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242858.2|protein_coding|1/9|c.11-4169T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242859.2|protein_coding|2/11|c.35-25T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001300915.1|protein_coding|2/11|c.32-25T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242860.2|protein_coding|2/12|c.32-25T>G||||||,G|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242861.2|protein_coding|2/10|c.32-25T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4772;p3_1000G_AF=0.952875;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=13487;p3_1000G_EAS_AF=0.9355;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84640691;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	84175621	rs2812001	A	C	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.68;ReadPosRankSum=-0.303;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2812001;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_182948.3|protein_coding|1/9|c.188-3556A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_207578.2|protein_coding|1/8|c.47-3556A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_002731.3|protein_coding|1/9|c.47-3556A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001300916.1|protein_coding|1/8|c.188-3556A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001300917.1|protein_coding|1/8|c.11-3556A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242857.2|protein_coding|3/12|c.59-178A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242858.2|protein_coding|1/9|c.11-3556A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242859.2|protein_coding|3/11|c.58+565A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001300915.1|protein_coding|3/11|c.56-178A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242860.2|protein_coding|3/12|c.56-178A>C||||||,C|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242861.2|protein_coding|3/10|c.55+565A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1019;p3_1000G_AF=0.203474;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=14189;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84641304;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:61:187,0,61
chr1	84235083	rs11163923	C	T	124.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11163923;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_182948.3|protein_coding|9/9|c.1072-97C>T||||||,T|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_002731.3|protein_coding|9/9|c.931-97C>T||||||,T|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242857.2|protein_coding|12/12|c.952-97C>T||||||,T|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242858.2|protein_coding|9/9|c.895-97C>T||||||,T|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242859.2|protein_coding|11/11|c.943-97C>T||||||,T|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242860.2|protein_coding|12/12|c.949-97C>T||||||,T|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242861.2|protein_coding|10/10|c.841-97C>T||||||,T|intron_variant|MODIFIER|PRKACB|PRKACB|transcript|NM_001242862.2|protein_coding|8/8|c.892-97C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=988;p3_1000G_AF=0.197284;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=19053;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.0408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84700766;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:152,12,0
chr1	84325556	rs315555	T	C	1644.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs315555;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|SAMD13|SAMD13|transcript|NM_001010971.2|protein_coding|2/3|c.96-81T>C||||||,C|intron_variant|MODIFIER|SAMD13|SAMD13|transcript|NM_001134663.1|protein_coding|2/3|c.54-81T>C||||||,C|intron_variant|MODIFIER|SAMD13|SAMD13|transcript|NM_001134664.1|protein_coding|2/3|c.54-81T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4399;p3_1000G_AF=0.878395;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=21190;p3_1000G_EAS_AF=0.8562;p3_1000G_EUR_AF=0.9175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84791239;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1673,144,0
chr1	84398573	rs3738573	G	C	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.973;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.699;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738573;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|DNASE2B|DNASE2B|transcript|NM_021233.2|protein_coding|1/6|c.9G>C|p.Gln3His|42/1259|9/1086|3/361||;p3_1000G_AA=G|||;p3_1000G_AC=1473;p3_1000G_AF=0.294129;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=20991;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84864256;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=778,3356;ESP6500_AA_GTC=79,620,1368;ESP6500_CDS_SIZES=NM_021233.2:1086;ESP6500_CG=3.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=171;ESP6500_EA_AC=2894,5546;ESP6500_EA_GTC=499,1896,1825;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021233.2:missense;ESP6500_GL=DNASE2B;ESP6500_GRCh38_POSITION=1:84398573;ESP6500_GS=24;ESP6500_GTC=578,2516,3193;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_021233.2:c.9G>C;ESP6500_HGVS_PROTEIN_VAR=NM_021233.2:p.(Q3H);ESP6500_MAF=34.2891,18.8195,29.2031;ESP6500_PH=possibly-damaging:0.61;ESP6500_TAC=3672,8902	GT:AD:DP:GQ:PL	0/1:15,13:28:99:359,0,376
chr1	84401927	rs3754274	G	A	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.483;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0.632;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754274;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|DNASE2B|DNASE2B|transcript|NM_021233.2|protein_coding|2/6|c.152G>A|p.Arg51Lys|185/1259|152/1086|51/361||;p3_1000G_AA=G|||;p3_1000G_AC=1125;p3_1000G_AF=0.224641;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=19494;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84867610;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=272,3414;ESP6500_AA_GTC=15,242,1586;ESP6500_CDS_SIZES=NM_021233.2:1086;ESP6500_CG=-0.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=55;ESP6500_EA_AC=2296,5876;ESP6500_EA_GTC=345,1606,2135;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021233.2:missense;ESP6500_GL=DNASE2B;ESP6500_GRCh38_POSITION=1:84401927;ESP6500_GS=26;ESP6500_GTC=360,1848,3721;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021233.2:c.152G>A;ESP6500_HGVS_PROTEIN_VAR=NM_021233.2:p.(R51K);ESP6500_MAF=28.0959,7.3793,21.6563;ESP6500_PH=benign:0.001;ESP6500_TAC=2568,9290	GT:AD:DP:GQ:PL	0/1:9,6:15:99:133,0,232
chr1	84479306	rs2292191	A	G	686.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.7;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292191;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|RPF1|RPF1|transcript|NM_025065.6|protein_coding|1/9|c.25A>G|p.Ser9Gly|70/1975|25/1050|9/349||;p3_1000G_AA=A|||;p3_1000G_AC=2456;p3_1000G_AF=0.490415;p3_1000G_AFR_AF=0.2005;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=16132;p3_1000G_EAS_AF=0.7331;p3_1000G_EUR_AF=0.6571;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84944989;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1170,3232;ESP6500_AA_GTC=171,828,1202;ESP6500_CDS_SIZES=NM_025065.6:1050;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=27;ESP6500_EA_AC=5447,3149;ESP6500_EA_GTC=1753,1941,604;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025065.6:missense;ESP6500_GL=RPF1;ESP6500_GRCh38_POSITION=1:84479306;ESP6500_GS=56;ESP6500_GTC=1924,2769,1806;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_025065.6:c.25A>G;ESP6500_HGVS_PROTEIN_VAR=NM_025065.6:p.(S9G);ESP6500_MAF=36.6333,26.5788,49.0922;ESP6500_PH=benign:0.0;ESP6500_TAC=6617,6381	GT:AD:DP:GQ:PL	1/1:0,21:21:63:715,63,0
chr1	84481062	rs7413066	C	T	475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.43;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7413066;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RPF1|RPF1|transcript|NM_025065.6|protein_coding|2/8|c.285+50C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4950;p3_1000G_AF=0.988419;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=14885;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84946745;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4215,189;ESP6500_AA_AGE=114.2+/-152.2;ESP6500_AA_GTC=2016,183,3;ESP6500_CDS_SIZES=NM_025065.6:1050;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=46;ESP6500_EA_AC=8581,1;ESP6500_EA_GTC=4290,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025065.6:intron;ESP6500_GL=RPF1;ESP6500_GRCh38_POSITION=1:84481062;ESP6500_GTC=6306,184,3;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025065.6:c.285+50C>T;ESP6500_MAF=0.0117,4.2916,1.4631;ESP6500_TAC=12796,190	GT:AD:DP:GQ:PL	1/1:0,18:18:53:504,53,0
chr1	84505871	rs374313539	C	G	12.05	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=-0.431;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374313539;dbSNPBuildID=138;ANN=G|upstream_gene_variant|MODIFIER|SPATA1|SPATA1|transcript|NM_001310156.1|protein_coding||c.-10423C>G|||||430|,G|intron_variant|MODIFIER|GNG5|GNG5|transcript|NM_005274.2|protein_coding|2/3|c.81+140G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=40;p3_1000G_AF=0.00798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=10969;p3_1000G_EAS_AF=0.0397;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84971554;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31
chr1	84520530	rs397714457;rs398074122;rs5775789	AT	A	592.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.94;SOR=2.737;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5775789;dbSNPBuildID=131,138,138;ANN=A|intron_variant|MODIFIER|SPATA1|SPATA1|transcript|NM_001310156.1|protein_coding|2/13|c.103-45delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=16867;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.9841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84986213;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,22:22:66:630,66,0
chr1	84647520	rs2994949	T	C	2475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.95;SOR=0.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2994949;dbSNPBuildID=101;ANN=C|synonymous_variant|LOW|SSX2IP|SSX2IP|transcript|NM_001166293.1|protein_coding|14/14|c.1758A>G|p.Ala586Ala|2034/5847|1758/1845|586/614||,C|synonymous_variant|LOW|SSX2IP|SSX2IP|transcript|NM_001166295.1|protein_coding|13/13|c.1677A>G|p.Ala559Ala|2030/5843|1677/1764|559/587||,C|synonymous_variant|LOW|SSX2IP|SSX2IP|transcript|NM_001166417.1|protein_coding|15/15|c.1758A>G|p.Ala586Ala|2212/6025|1758/1845|586/614||,C|synonymous_variant|LOW|SSX2IP|SSX2IP|transcript|NM_001166294.1|protein_coding|13/13|c.1677A>G|p.Ala559Ala|1902/5715|1677/1764|559/587||,C|synonymous_variant|LOW|SSX2IP|SSX2IP|transcript|NM_014021.3|protein_coding|15/15|c.1758A>G|p.Ala586Ala|2084/5897|1758/1845|586/614||;p3_1000G_AA=C|||;p3_1000G_AC=3819;p3_1000G_AF=0.76258;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=17885;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.8787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85113203;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2821,1585;ESP6500_AA_AGE=494.8+/-363.1;ESP6500_AA_GTC=904,1013,286;ESP6500_CDS_SIZES=NM_014021.3:1845,NM_001166417.1:1845,NM_001166295.1:1764,NM_001166294.1:1764,NM_001166293.1:1845;ESP6500_CG=-11.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=231;ESP6500_EA_AC=7289,1309;ESP6500_EA_AGE=258.8+/-282.3;ESP6500_EA_GTC=3085,1119,95;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014021.3:coding-synonymous,NM_001166417.1:coding-synonymous,NM_001166295.1:coding-synonymous,NM_001166294.1:coding-synonymous,NM_001166293.1:coding-synonymous;ESP6500_GL=SSX2IP;ESP6500_GRCh38_POSITION=1:84647520;ESP6500_GTC=3989,2132,381;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014021.3:c.1758A>G,NM_001166417.1:c.1758A>G,NM_001166295.1:c.1677A>G,NM_001166294.1:c.1677A>G,NM_001166293.1:c.1758A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014021.3:p.(A586),NM_001166417.1:p.(A586),NM_001166295.1:p.(A559),NM_001166294.1:p.(A559),NM_001166293.1:p.(A586);ESP6500_MAF=15.2245,35.9737,22.2547;ESP6500_TAC=10110,2894	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2504,240,0
chr1	84647546	rs1057746	A	G	2288.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.97;SOR=0.881;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1057746;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|SSX2IP|SSX2IP|transcript|NM_001166293.1|protein_coding|14/14|c.1732T>C|p.Cys578Arg|2008/5847|1732/1845|578/614||,G|missense_variant|MODERATE|SSX2IP|SSX2IP|transcript|NM_001166295.1|protein_coding|13/13|c.1651T>C|p.Cys551Arg|2004/5843|1651/1764|551/587||,G|missense_variant|MODERATE|SSX2IP|SSX2IP|transcript|NM_001166417.1|protein_coding|15/15|c.1732T>C|p.Cys578Arg|2186/6025|1732/1845|578/614||,G|missense_variant|MODERATE|SSX2IP|SSX2IP|transcript|NM_001166294.1|protein_coding|13/13|c.1651T>C|p.Cys551Arg|1876/5715|1651/1764|551/587||,G|missense_variant|MODERATE|SSX2IP|SSX2IP|transcript|NM_014021.3|protein_coding|15/15|c.1732T>C|p.Cys578Arg|2058/5897|1732/1845|578/614||;p3_1000G_AA=A|||;p3_1000G_AC=2567;p3_1000G_AF=0.51258;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=17943;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.6521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85113229;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1297,3109;ESP6500_AA_AGE=439.2+/-345.6;ESP6500_AA_GTC=195,907,1101;ESP6500_CDS_SIZES=NM_014021.3:1845,NM_001166417.1:1845,NM_001166295.1:1764,NM_001166294.1:1764,NM_001166293.1:1845;ESP6500_CG=2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=215;ESP6500_EA_AC=5425,3175;ESP6500_EA_AGE=653.7+/-401.1;ESP6500_EA_GTC=1728,1969,603;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014021.3:missense,NM_001166417.1:missense,NM_001166295.1:missense,NM_001166294.1:missense,NM_001166293.1:missense;ESP6500_GL=SSX2IP;ESP6500_GRCh38_POSITION=1:84647546;ESP6500_GS=180,180,180,180,180;ESP6500_GTC=1923,2876,1704;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014021.3:c.1732T>C,NM_001166417.1:c.1732T>C,NM_001166295.1:c.1651T>C,NM_001166294.1:c.1651T>C,NM_001166293.1:c.1732T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014021.3:p.(C578R),NM_001166417.1:p.(C578R),NM_001166295.1:p.(C551R),NM_001166294.1:p.(C551R),NM_001166293.1:p.(C578R);ESP6500_MAF=36.9186,29.4371,48.3162;ESP6500_PH=benign:0.01,benign:0.01,benign:0.01,benign:0.01,benign:0.01;ESP6500_TAC=6722,6284	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2317,236,0
chr1	84655572	rs4537578	A	G	698.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.12;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4537578;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166293.1|protein_coding|11/13|c.1389+260T>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166295.1|protein_coding|10/12|c.1308+260T>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166417.1|protein_coding|12/14|c.1389+260T>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166294.1|protein_coding|10/12|c.1308+260T>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_014021.3|protein_coding|12/14|c.1389+260T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2577;p3_1000G_AF=0.514577;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=16350;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.6521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85121255;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:727,72,0
chr1	84662579	rs2911563	A	G	269.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2911563;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166293.1|protein_coding|6/13|c.674-49T>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166295.1|protein_coding|5/12|c.593-49T>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166417.1|protein_coding|7/14|c.674-49T>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166294.1|protein_coding|5/12|c.593-49T>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_014021.3|protein_coding|7/14|c.674-49T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3396;p3_1000G_AF=0.678115;p3_1000G_AFR_AF=0.6309;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=20177;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85128262;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2846,1556;ESP6500_AA_GTC=923,1000,278;ESP6500_CDS_SIZES=NM_014021.3:1845,NM_001166417.1:1845,NM_001166295.1:1764,NM_001166294.1:1764,NM_001166293.1:1845;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=43;ESP6500_EA_AC=6624,1972;ESP6500_EA_GTC=2565,1494,239;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014021.3:intron,NM_001166417.1:intron,NM_001166295.1:intron,NM_001166294.1:intron,NM_001166293.1:intron;ESP6500_GL=SSX2IP;ESP6500_GRCh38_POSITION=1:84662579;ESP6500_GTC=3488,2494,517;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014021.3:c.674-49T>C,NM_001166417.1:c.674-49T>C,NM_001166295.1:c.593-49T>C,NM_001166294.1:c.593-49T>C,NM_001166293.1:c.674-49T>C;ESP6500_MAF=22.9409,35.3476,27.1426;ESP6500_TAC=9470,3528	GT:AD:DP:GQ:PL	1/1:0,10:10:30:298,30,0
chr1	84662597	rs2994437	T	C	282.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2994437;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166293.1|protein_coding|6/13|c.674-67A>G||||||,C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166295.1|protein_coding|5/12|c.593-67A>G||||||,C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166417.1|protein_coding|7/14|c.674-67A>G||||||,C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166294.1|protein_coding|5/12|c.593-67A>G||||||,C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_014021.3|protein_coding|7/14|c.674-67A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4268;p3_1000G_AF=0.852236;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=20575;p3_1000G_EAS_AF=0.7937;p3_1000G_EUR_AF=0.9533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85128280;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:311,27,0
chr1	84662622	rs11164033	G	C	237.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11164033;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166293.1|protein_coding|6/13|c.674-92C>G||||||,C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166295.1|protein_coding|5/12|c.593-92C>G||||||,C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166417.1|protein_coding|7/14|c.674-92C>G||||||,C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166294.1|protein_coding|5/12|c.593-92C>G||||||,C|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_014021.3|protein_coding|7/14|c.674-92C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2578;p3_1000G_AF=0.514776;p3_1000G_AFR_AF=0.2549;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=20648;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.6521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85128305;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:266,24,0
chr1	84666299	rs3096445	T	G	264.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.42;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3096445;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166293.1|protein_coding|4/13|c.427-67A>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166295.1|protein_coding|3/12|c.346-67A>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166417.1|protein_coding|5/14|c.427-67A>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_001166294.1|protein_coding|3/12|c.346-67A>C||||||,G|intron_variant|MODIFIER|SSX2IP|SSX2IP|transcript|NM_014021.3|protein_coding|5/14|c.427-67A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4268;p3_1000G_AF=0.852236;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=16176;p3_1000G_EAS_AF=0.7937;p3_1000G_EUR_AF=0.9533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85131982;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:293,27,0
chr1	84866125	rs113879527;rs146269415;rs58203951;~rs67410957	G	GAGA	500.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.065;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.905;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.854;SOR=0.138;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113879527,rs58203951,rs146269415;dbSNPBuildID=134,132,138;ANN=GAGA|5_prime_UTR_variant|MODIFIER|LPAR3|LPAR3|transcript|NM_012152.2|protein_coding|2/3|c.-8_-6dupTCT|||||6|;p3_1000G_AC=3716;p3_1000G_AF=0.742013;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=21176;p3_1000G_EAS_AF=0.5327;p3_1000G_EUR_AF=0.7386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85331808;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=INDEL;ESP6500_AA_AC=3893,373;ESP6500_AA_GTC=1773,347,13;ESP6500_CDS_SIZES=NM_012152.2:1062;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=75;ESP6500_EA_AC=5862,2392;ESP6500_EA_GTC=2085,1692,350;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012152.2:utr-5;ESP6500_GL=LPAR3;ESP6500_GRCh38_POSITION=1:84866125;ESP6500_GTC=3858,2039,363;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_012152.2:c.-6_-5insTCT;ESP6500_MAF=28.9799,8.7436,22.0847;ESP6500_TAC=9755,2765	GT:AD:DP:GQ:PL	0/1:16,14:30:99:538,0,747
chr1	84931603	rs34793286	G	C	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.29;ReadPosRankSum=-0.842;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34793286;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|MCOLN2|MCOLN2|transcript|NM_153259.3|protein_coding|11/13|c.1336-35C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1246;p3_1000G_AF=0.248802;p3_1000G_AFR_AF=0.0439;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=17710;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85397286;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=353,3985;ESP6500_AA_GTC=20,313,1836;ESP6500_CDS_SIZES=NM_153259.2:1701;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=25;ESP6500_EA_AC=2565,6013;ESP6500_EA_GTC=378,1809,2102;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153259.2:intron;ESP6500_GL=MCOLN2;ESP6500_GRCh38_POSITION=1:84931603;ESP6500_GTC=398,2122,3938;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_153259.2:c.1336-35C>G;ESP6500_MAF=29.9021,8.1374,22.5921;ESP6500_TAC=2918,9998	GT:AD:DP:GQ:PL	0/1:2,4:6:67:156,0,67
chr1	84939678	rs372812492	T	A	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.07;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=8.272;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.917;SOR=0.537;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372812492;dbSNPBuildID=138;ANN=A|stop_gained|HIGH|MCOLN2|MCOLN2|transcript|NM_153259.3|protein_coding|9/14|c.985A>T|p.Lys329*|1235/3053|985/1701|329/566||;LOF=(MCOLN2|MCOLN2|1|1.00);NMD=(MCOLN2|MCOLN2|1|1.00);p3_1000G_AA=T|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20052;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85405361;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_153259.2:1701;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=78;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153259.2:stop-gained;ESP6500_GL=MCOLN2;ESP6500_GRCh38_POSITION=1:84939678;ESP6500_GTC=0,1,6502;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_153259.2:c.985A>T;ESP6500_HGVS_PROTEIN_VAR=NM_153259.2:p.(K329*);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:16,16:32:99:348,0,418
chr1	84952624	rs677476	C	G	297.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs677476;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|MCOLN2|MCOLN2|transcript|NM_153259.3|protein_coding|4/13|c.566-94G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.6067;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=20825;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.4901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85418307;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:326,24,0
chr1	84956378	rs632545	C	T	933.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=3.18;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs632545;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|MCOLN2|MCOLN2|transcript|NM_153259.3|protein_coding|4/13|c.565+53G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2770;p3_1000G_AF=0.553115;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=18926;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85422061;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:962,81,0
chr1	84958499	rs673998	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.643;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs673998;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|MCOLN2|MCOLN2|transcript|NM_153259.3|protein_coding|3/13|c.411+30T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1852;p3_1000G_AF=0.369808;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=15822;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.325;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85424182;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1906,2500;ESP6500_AA_GTC=401,1104,698;ESP6500_CDS_SIZES=NM_153259.2:1701;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=66;ESP6500_EA_AC=2945,5653;ESP6500_EA_GTC=534,1877,1888;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153259.2:intron;ESP6500_GL=MCOLN2;ESP6500_GRCh38_POSITION=1:84958499;ESP6500_GTC=935,2981,2586;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153259.2:c.411+30T>C;ESP6500_MAF=34.2522,43.2592,37.3039;ESP6500_TAC=4851,8153	GT:AD:DP:GQ:PL	0/1:10,9:19:99:255,0,285
chr1	84996899	rs11161503	C	G	1026.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=1.839;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11161503;dbSNPBuildID=120;ANN=G|5_prime_UTR_variant|MODIFIER|MCOLN2|MCOLN2|transcript|NM_153259.3|protein_coding|1/14|c.-27G>C|||||27|;p3_1000G_AA=C|||;p3_1000G_AC=2264;p3_1000G_AF=0.452077;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=11787;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.4662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85462582;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1361,3045;ESP6500_AA_AGE=450.2+/-349.3;ESP6500_AA_GTC=190,981,1032;ESP6500_CDS_SIZES=NM_153259.2:1701;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=51;ESP6500_EA_AC=4103,4497;ESP6500_EA_AGE=558.4+/-387.2;ESP6500_EA_GTC=984,2135,1181;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153259.2:utr-5;ESP6500_GL=MCOLN2;ESP6500_GRCh38_POSITION=1:84996899;ESP6500_GTC=1174,3116,2213;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153259.2:c.-27G>C;ESP6500_MAF=47.7093,30.8897,42.0114;ESP6500_TAC=5464,7542	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1055,93,0
chr1	84996969	rs11161504	G	T	349.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11161504;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|MCOLN2|MCOLN2|transcript|NM_153259.3|protein_coding|1/14|c.-97C>A|||||97|;p3_1000G_AA=G|||;p3_1000G_AC=2261;p3_1000G_AF=0.451478;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=10624;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.4662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85462652;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:378,33,0
chr1	84996982	rs11161505	T	G	346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.68;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11161505;dbSNPBuildID=120;ANN=G|5_prime_UTR_variant|MODIFIER|MCOLN2|MCOLN2|transcript|NM_153259.3|protein_coding|1/14|c.-110A>C|||||110|;p3_1000G_AA=T|||;p3_1000G_AC=2261;p3_1000G_AF=0.451478;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=10533;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.4662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85462665;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:375,30,0
chr1	85022347	rs2028304	G	A	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.13;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.54;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2028304;dbSNPBuildID=94;ANN=A|synonymous_variant|LOW|MCOLN3|MCOLN3|transcript|NM_018298.10|protein_coding|10/13|c.1149C>T|p.Leu383Leu|1296/2850|1149/1662|383/553||,A|synonymous_variant|LOW|MCOLN3|MCOLN3|transcript|NM_001253693.1|protein_coding|9/12|c.981C>T|p.Leu327Leu|1128/2682|981/1494|327/497||;p3_1000G_AA=A|||;p3_1000G_AC=3987;p3_1000G_AF=0.796126;p3_1000G_AFR_AF=0.8298;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=21851;p3_1000G_EAS_AF=0.7331;p3_1000G_EUR_AF=0.84;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85488030;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3677,729;ESP6500_AA_AGE=301.3+/-286.8;ESP6500_AA_GTC=1533,611,59;ESP6500_CDS_SIZES=NM_018298.10:1662,NM_001253693.1:1494;ESP6500_CG=-11.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=81;ESP6500_EA_AC=7384,1216;ESP6500_EA_AGE=244.3+/-273.6;ESP6500_EA_GTC=3157,1070,73;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018298.10:coding-synonymous,NM_001253693.1:coding-synonymous;ESP6500_GL=MCOLN3;ESP6500_GRCh38_POSITION=1:85022347;ESP6500_GTC=4690,1681,132;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018298.10:c.1149C>T,NM_001253693.1:c.981C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018298.10:p.(L383),NM_001253693.1:p.(L327);ESP6500_MAF=14.1395,16.5456,14.9546;ESP6500_TAC=11061,1945	GT:AD:DP:GQ:PL	0/1:23,15:38:99:364,0,605
chr1	85029223	rs571939499	C	T	412.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.425;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.607;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.31;SOR=0.328;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|MCOLN3|MCOLN3|transcript|NM_018298.10|protein_coding|6/12|c.733-18G>A||||||,T|intron_variant|MODIFIER|MCOLN3|MCOLN3|transcript|NM_001253693.1|protein_coding|5/11|c.565-18G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20434;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85494906;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,17:30:99:441,0,360
chr1	85071819	rs4907131	T	A	86.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4907131;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|1/22|c.-14-109T>A||||||,A|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|1/21|c.-14-109T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3975;p3_1000G_AF=0.79373;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=20427;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85537502;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:58:115,0,58
chr1	85071839	rs4907132	T	C	161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.619;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.22;ReadPosRankSum=-0.619;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4907132;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|1/22|c.-14-89T>C||||||,C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|1/21|c.-14-89T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3877;p3_1000G_AF=0.774161;p3_1000G_AFR_AF=0.5673;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=20412;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85537522;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:51:190,0,51
chr1	85072023	rs17099213	T	C	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.782;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.848;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.45;SOR=0.605;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17099213;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|2/22|c.64+18T>C||||||,C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|2/21|c.64+18T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=287;p3_1000G_AF=0.0573083;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=16541;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.0417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85537706;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=58,4348;ESP6500_AA_AGE=54.2+/-90.2;ESP6500_AA_GTC=2,54,2147;ESP6500_CDS_SIZES=NM_145172.3:2676;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=68;ESP6500_EA_AC=416,8184;ESP6500_EA_AGE=129.0+/-187.1;ESP6500_EA_GTC=14,388,3898;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145172.3:intron;ESP6500_GL=WDR63;ESP6500_GRCh38_POSITION=1:85072023;ESP6500_GTC=16,442,6045;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145172.3:c.64+18T>C;ESP6500_MAF=4.8372,1.3164,3.6445;ESP6500_TAC=474,12532	GT:AD:DP:GQ:PL	0/1:11,9:20:99:241,0,323
chr1	85085785	rs111823967;~rs67820569	A	ATCAGTTTTTCT	472.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.613;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=-0.925;SOR=0.216;INS;HET;VARTYPE=INS;dbSNP138_ID=rs111823967,rs78237272;dbSNPBuildID=132;ANN=ATCAGTTTTTCT|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|6/22|c.541-42_541-41insTTTTTCTTCAG||||||INFO_REALIGN_3_PRIME,ATCAGTTTTTCT|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|6/21|c.541-42_541-41insTTTTTCTTCAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=22086;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85551468;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=INDEL;ESP6500_AA_AC=2515,1751;ESP6500_AA_GTC=764,987,382;ESP6500_CDS_SIZES=NM_145172.3:2676;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=37;ESP6500_EA_AC=4871,3373;ESP6500_EA_GTC=1476,1919,727;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145172.3:intron;ESP6500_GL=WDR63;ESP6500_GRCh38_POSITION=1:85085785;ESP6500_GTC=2240,2906,1109;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_145172.3:c.541-46_541-45insTCAGTTTTTCT;ESP6500_MAF=40.9146,41.0455,40.9592;ESP6500_TAC=7386,5124	GT:AD:DP:GQ:PL	0/1:12,12:24:99:510,0,1466
chr1	85093435	rs11304107;rs796481925	CT	C	928.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=2.093;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11304107;dbSNPBuildID=132,146;ANN=C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|8/22|c.858-16delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|7/21|c.741-16delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTT|TTTTTTT|TTTTTT|insertion;p3_1000G_AC=3138;p3_1000G_AF=0.626597;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=20567;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.6352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85559118;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=INDEL;ESP6500_AA_AC=2960,1306;ESP6500_AA_GTC=1023,914,196;ESP6500_CDS_SIZES=NM_145172.3:2676;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=5136,3116;ESP6500_EA_GTC=1597,1942,587;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145172.3:intron;ESP6500_GL=WDR63;ESP6500_GRCh38_POSITION=1:85093435;ESP6500_GTC=2620,2856,783;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_145172.3:c.858-22del1;ESP6500_MAF=37.7605,30.6142,35.3251;ESP6500_TAC=8096,4422	GT:AD:DP:GQ:PL	1/1:0,31:31:93:966,93,0
chr1	85093713	rs41289039	G	C	1645.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=0.72;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.769;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41289039;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|9/22|c.1048+65G>C||||||,C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|8/21|c.931+65G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=259;p3_1000G_AF=0.0517173;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=22608;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.0656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85559396;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1674,0,1560
chr1	85093769	rs709762	A	G	979.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.26;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=2.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.256;SOR=1.05;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs709762;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|9/22|c.1048+121A>G||||||,G|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|8/21|c.931+121A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2861;p3_1000G_AF=0.571286;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=23395;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.5696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85559452;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:42,32:74:99:1008,0,1118
chr1	85094630	rs709765	T	C	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.079;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.65;ReadPosRankSum=-1.316;SOR=0.05;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs709765;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|10/22|c.1173+75T>C||||||,C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|9/21|c.1056+75T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2864;p3_1000G_AF=0.571885;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=18551;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.5706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85560313;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:113,0,313
chr1	85095863	rs709766	T	C	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.572;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=1.2;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs709766;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|10/22|c.1174-68T>C||||||,C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|9/21|c.1057-68T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2854;p3_1000G_AF=0.569888;p3_1000G_AFR_AF=0.6702;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=19357;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85561546;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:267,0,142
chr1	85098455	rs817489	A	G	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=1.65;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs817489;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|12/22|c.1351-75A>G||||||,G|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|11/21|c.1234-75A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=19912;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.5706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85564138;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:58:99,0,58
chr1	85108022	rs11427716	A	AC	96.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11427716;dbSNPBuildID=126;ANN=AC|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|14/22|c.1554-11_1554-10insC||||||,AC|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|13/21|c.1437-11_1437-10insC||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:133,12,0
chr1	85110155	rs376334573	TA	T	23.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.189;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.96;ReadPosRankSum=0.189;SOR=0.838;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs376334573;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|16/22|c.1786+34delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|15/21|c.1669+34delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,3:6:60:61,0,60
chr1	85117640	rs817471	T	A	41.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs817471;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|16/22|c.1787-89T>A||||||,A|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|15/21|c.1670-89T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=967;p3_1000G_AF=0.193091;p3_1000G_AFR_AF=0.2814;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=16989;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85583323;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:28:70,0,28
chr1	85124159	rs17121745	A	G	1173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.52;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=7.785;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.123;SOR=0.286;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17121745;dbSNPBuildID=123;ANN=G|missense_variant|MODERATE|WDR63|WDR63|transcript|NM_145172.4|protein_coding|19/23|c.2020A>G|p.Thr674Ala|2223/3019|2020/2676|674/891||,G|missense_variant|MODERATE|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|18/22|c.1903A>G|p.Thr635Ala|2106/2902|1903/2559|635/852||;p3_1000G_AA=A|||;p3_1000G_AC=264;p3_1000G_AF=0.0527157;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=22605;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.0686;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85589842;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=46,4360;ESP6500_AA_AGE=48.9+/-83.8;ESP6500_AA_GTC=0,46,2157;ESP6500_CDS_SIZES=NM_145172.3:2676;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=283;ESP6500_EA_AC=570,8030;ESP6500_EA_AGE=154.3+/-208.6;ESP6500_EA_GTC=16,538,3746;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145172.3:missense;ESP6500_GL=WDR63;ESP6500_GRCh38_POSITION=1:85124159;ESP6500_GS=58;ESP6500_GTC=16,584,5903;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145172.3:c.2020A>G;ESP6500_HGVS_PROTEIN_VAR=NM_145172.3:p.(T674A);ESP6500_MAF=6.6279,1.044,4.7363;ESP6500_PH=benign:0.0;ESP6500_TAC=616,12390	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1202,0,1499
chr1	85128709	rs2305930	T	C	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.914;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.621;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.099;SOR=0.377;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305930;dbSNPBuildID=100;ANN=C|splice_region_variant&synonymous_variant|LOW|WDR63|WDR63|transcript|NM_145172.4|protein_coding|21/23|c.2319T>C|p.Ser773Ser|2522/3019|2319/2676|773/891||,C|splice_region_variant&synonymous_variant|LOW|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|20/22|c.2202T>C|p.Ser734Ser|2405/2902|2202/2559|734/852||;p3_1000G_AA=T|||;p3_1000G_AC=263;p3_1000G_AF=0.052516;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=19327;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.0686;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85594392;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=44,4360;ESP6500_AA_AGE=45.3+/-79.5;ESP6500_AA_GTC=0,44,2158;ESP6500_CDS_SIZES=NM_145172.3:2676;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=569,8029;ESP6500_EA_AGE=152.8+/-207.3;ESP6500_EA_GTC=16,537,3746;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145172.3:coding-synonymous-near-splice;ESP6500_GL=WDR63;ESP6500_GRCh38_POSITION=1:85128709;ESP6500_GTC=16,581,5904;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145172.3:c.2319T>C;ESP6500_HGVS_PROTEIN_VAR=NM_145172.3:p.(S773);ESP6500_MAF=6.6178,0.9991,4.7147;ESP6500_TAC=613,12389	GT:AD:DP:GQ:PL	0/1:32,19:51:99:467,0,925
chr1	85128783	rs709783	G	A	989.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.212;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=4.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.522;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs709783;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|WDR63|WDR63|transcript|NM_145172.4|protein_coding|21/23|c.2393G>A|p.Arg798His|2596/3019|2393/2676|798/891||,A|missense_variant|MODERATE|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|20/22|c.2276G>A|p.Arg759His|2479/2902|2276/2559|759/852||;p3_1000G_AA=G|||;p3_1000G_AC=1090;p3_1000G_AF=0.217652;p3_1000G_AFR_AF=0.3245;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=18925;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.1829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85594466;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1338,3068;ESP6500_AA_AGE=427.6+/-341.6;ESP6500_AA_GTC=215,908,1080;ESP6500_CDS_SIZES=NM_145172.3:2676;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=78;ESP6500_EA_AC=1448,7152;ESP6500_EA_AGE=274.5+/-291.2;ESP6500_EA_GTC=132,1184,2984;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145172.3:missense;ESP6500_GL=WDR63;ESP6500_GRCh38_POSITION=1:85128783;ESP6500_GS=29;ESP6500_GTC=347,2092,4064;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145172.3:c.2393G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145172.3:p.(R798H);ESP6500_MAF=16.8372,30.3677,21.4209;ESP6500_PH=benign:0.001;ESP6500_TAC=2786,10220	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1018,0,672
chr1	85128890	rs2305931	T	C	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.127;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=1.14;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305931;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|MIR4423|MIR4423|transcript|NR_039619.1|pseudogene||n.-4904T>C|||||4904|,C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|21/22|c.2409+91T>C||||||,C|intron_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|20/21|c.2292+91T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=264;p3_1000G_AF=0.0527157;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=20098;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.0686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85594573;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,14:27:99:361,0,381
chr1	85132844	rs36118758;rs398074126;rs5775826	TC	T	695.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=2.494;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs36118758,rs5775826;dbSNPBuildID=131,138,126;ANN=T|splice_region_variant&intron_variant|LOW|WDR63|WDR63|transcript|NM_145172.4|protein_coding|22/22|c.2533-3delC||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|21/21|c.2416-3delC||||||INFO_REALIGN_3_PRIME,T|upstream_gene_variant|MODIFIER|MIR4423|MIR4423|transcript|NR_039619.1|pseudogene||n.-949delC|||||949|;p3_1000G_AA=CCCCCCC|CCCCCCCC|CCCCCCC|insertion;p3_1000G_AC=4920;p3_1000G_AF=0.982428;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17842;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85598527;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,24:24:72:733,72,0
chr1	85132913	rs186213541	G	A	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.296;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=4.743;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=1.11;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs186213541;dbSNPBuildID=135;ANN=A|missense_variant|MODERATE|WDR63|WDR63|transcript|NM_145172.4|protein_coding|23/23|c.2591G>A|p.Ser864Asn|2794/3019|2591/2676|864/891||,A|missense_variant|MODERATE|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|22/22|c.2474G>A|p.Ser825Asn|2677/2902|2474/2559|825/852||,A|upstream_gene_variant|MODIFIER|MIR4423|MIR4423|transcript|NR_039619.1|pseudogene||n.-881G>A|||||881|;p3_1000G_AA=g|||;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16202;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85598596;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,21:37:99:554,0,390
chr1	85132996	rs145165915	T	TA	381.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.043;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=4.53;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-1.241;SOR=0.148;INS;HET;VARTYPE=INS;dbSNP138_ID=rs145165915;dbSNPBuildID=134;ANN=TA|3_prime_UTR_variant|MODIFIER|WDR63|WDR63|transcript|NM_145172.4|protein_coding|23/23|c.*4dupA|||||5|INFO_REALIGN_3_PRIME,TA|3_prime_UTR_variant|MODIFIER|WDR63|WDR63|transcript|NM_001288563.1|protein_coding|22/22|c.*4dupA|||||5|INFO_REALIGN_3_PRIME,TA|upstream_gene_variant|MODIFIER|MIR4423|MIR4423|transcript|NR_039619.1|pseudogene||n.-798_-797insA|||||797|;p3_1000G_AA=AAAAAA|AAAAAA|AAAAAAA|insertion;p3_1000G_AC=263;p3_1000G_AF=0.052516;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=14906;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.0676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85598679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=INDEL;ESP6500_AA_AC=45,4221;ESP6500_AA_GTC=0,45,2088;ESP6500_CDS_SIZES=NM_145172.3:2676;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=123;ESP6500_EA_AC=548,7702;ESP6500_EA_GTC=15,518,3592;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145172.3:frameshift;ESP6500_GL=WDR63;ESP6500_GRCh38_POSITION=1:85132996;ESP6500_GTC=15,563,5680;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_145172.3:c.2674_2675insA;ESP6500_HGVS_PROTEIN_VAR=NM_145172.3:p.(*892*);ESP6500_MAF=6.6424,1.0549,4.7379;ESP6500_TAC=593,11923	GT:AD:DP:GQ:PL	0/1:10,16:26:99:419,0,233
chr1	85158740	rs79898762	A	C	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.46;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.409;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79898762;dbSNPBuildID=131;ANN=C|3_prime_UTR_variant|MODIFIER|SYDE2|SYDE2|transcript|NM_032184.1|protein_coding|7/7|c.*10T>G|||||10|;p3_1000G_AA=A|||;p3_1000G_AC=286;p3_1000G_AF=0.0571086;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=15077;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.0586;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85624423;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=16,3572;ESP6500_AA_GTC=0,16,1778;ESP6500_CDS_SIZES=NM_032184.1:3585;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=19;ESP6500_EA_AC=215,7895;ESP6500_EA_GTC=14,187,3854;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032184.1:utr-3;ESP6500_GL=SYDE2;ESP6500_GRCh38_POSITION=1:85158740;ESP6500_GTC=14,203,5632;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_032184.1:c.*10T>G;ESP6500_MAF=2.651,0.4459,1.9747;ESP6500_TAC=231,11467	GT:AD:DP:GQ:PL	0/1:6,9:15:99:288,0,133
chr1	85158866	rs709786	C	T	1558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs709786;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|SYDE2|SYDE2|transcript|NM_032184.1|protein_coding|7/7|c.3469G>A|p.Val1157Ile|3518/4711|3469/3585|1157/1194||;p3_1000G_AA=T|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16065;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85624549;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3709,9;ESP6500_AA_GTC=1850,9,0;ESP6500_CDS_SIZES=NM_032184.1:3585;ESP6500_CG=2.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=93;ESP6500_EA_AC=8186,4;ESP6500_EA_GTC=4091,4,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032184.1:missense;ESP6500_GL=SYDE2;ESP6500_GRCh38_POSITION=1:85158866;ESP6500_GS=29;ESP6500_GTC=5941,13,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032184.1:c.3469G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032184.1:p.(V1157I);ESP6500_MAF=0.0488,0.2421,0.1092;ESP6500_PH=benign:0.0;ESP6500_TAC=11895,13	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1587,158,0
chr1	85159181	rs817412	G	A	823.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.42;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs817412;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|SYDE2|SYDE2|transcript|NM_032184.1|protein_coding|7/7|c.3154C>T|p.Leu1052Leu|3203/4711|3154/3585|1052/1194||;p3_1000G_AA=A|||;p3_1000G_AC=4913;p3_1000G_AF=0.98103;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16888;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85624864;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3475,171;ESP6500_AA_GTC=1655,165,3;ESP6500_CDS_SIZES=NM_032184.1:3585;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=86;ESP6500_EA_AC=8162,2;ESP6500_EA_GTC=4080,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032184.1:coding-synonymous;ESP6500_GL=SYDE2;ESP6500_GRCh38_POSITION=1:85159181;ESP6500_GTC=5735,167,3;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032184.1:c.3154C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032184.1:p.(L1052);ESP6500_MAF=0.0245,4.6901,1.4649;ESP6500_TAC=11637,173	GT:AD:DP:GQ:PL	1/1:0,28:28:84:852,84,0
chr1	85182030	rs817444	T	C	513.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs817444;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SYDE2|SYDE2|transcript|NM_032184.1|protein_coding|3/6|c.2544+68A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4905;p3_1000G_AF=0.979433;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17882;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85647713;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:542,42,0
chr1	85182937	rs817443	C	T	1496.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=0.952;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs817443;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|SYDE2|SYDE2|transcript|NM_032184.1|protein_coding|3/7|c.1705G>A|p.Val569Ile|1754/4711|1705/3585|569/1194||;p3_1000G_AA=T|||;p3_1000G_AC=4905;p3_1000G_AF=0.979433;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18447;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85648620;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3509,185;ESP6500_AA_GTC=1666,177,4;ESP6500_CDS_SIZES=NM_032184.1:3585;ESP6500_CG=-1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=164;ESP6500_EA_AC=8193,3;ESP6500_EA_GTC=4095,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032184.1:missense;ESP6500_GL=SYDE2;ESP6500_GRCh38_POSITION=1:85182937;ESP6500_GS=29;ESP6500_GTC=5761,180,4;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032184.1:c.1705G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032184.1:p.(V569I);ESP6500_MAF=0.0366,5.0081,1.5812;ESP6500_PH=benign:0.0;ESP6500_TAC=11702,188	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1525,150,0
chr1	85190233	rs56191061	G	A	962.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.17;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.067;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.32;SOR=0.835;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56191061;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|SYDE2|SYDE2|transcript|NM_032184.1|protein_coding|2/7|c.1265C>T|p.Ser422Leu|1314/4711|1265/3585|422/1194||;p3_1000G_AA=G|||;p3_1000G_AC=286;p3_1000G_AF=0.0571086;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=18962;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85655916;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=41,4011;ESP6500_AA_GTC=0,41,1985;ESP6500_CDS_SIZES=NM_032184.1:3585;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=161;ESP6500_EA_AC=493,7889;ESP6500_EA_GTC=15,463,3713;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032184.1:missense;ESP6500_GL=SYDE2;ESP6500_GRCh38_POSITION=1:85190233;ESP6500_GS=145;ESP6500_GTC=15,504,5698;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032184.1:c.1265C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032184.1:p.(S422L);ESP6500_MAF=5.8817,1.0118,4.2947;ESP6500_PH=benign:0.0;ESP6500_TAC=534,11900	GT:AD:DP:GQ:PL	0/1:30,36:66:99:991,0,913
chr1	85200473	rs12121540	T	G	658.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.91;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.895;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12121540;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|SYDE2|SYDE2|transcript|NM_032184.1|protein_coding|1/7|c.524A>C|p.Gln175Pro|573/4711|524/3585|175/1194||;p3_1000G_AA=T|||;p3_1000G_AC=1525;p3_1000G_AF=0.304513;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=16400;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.2376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85666156;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=628,3240;ESP6500_AA_GTC=42,544,1348;ESP6500_CDS_SIZES=NM_032184.1:3585;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=56;ESP6500_EA_AC=1975,6311;ESP6500_EA_GTC=244,1487,2412;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032184.1:missense;ESP6500_GL=SYDE2;ESP6500_GRCh38_POSITION=1:85200473;ESP6500_GS=76;ESP6500_GTC=286,2031,3760;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_032184.1:c.524A>C;ESP6500_HGVS_PROTEIN_VAR=NM_032184.1:p.(Q175P);ESP6500_MAF=23.8354,16.2358,21.4168;ESP6500_PH=benign:0.0;ESP6500_TAC=2603,9551	GT:AD:DP:GQ:PL	0/1:25,22:47:99:687,0,679
chr1	85258645	rs4949926	C	T	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.048;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.53;SOR=1.003;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4949926;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|C1orf52|C1orf52|transcript|NM_198077.3|protein_coding|2/3|c.354G>A|p.Pro118Pro|393/3263|354/549|118/182||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf52|C1orf52|transcript|NR_024113.1|pseudogene|3/4|n.520G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1126;p3_1000G_AF=0.22484;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=13049;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.2078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85724328;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2372;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=598,3808;ESP6500_AA_AGE=261.0+/-264.0;ESP6500_AA_GTC=36,526,1641;ESP6500_CDS_SIZES=NM_198077.3:549;ESP6500_CG=-3.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=135;ESP6500_EA_AC=1747,6853;ESP6500_EA_AGE=319.5+/-314.2;ESP6500_EA_GTC=169,1409,2722;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198077.3:coding-synonymous;ESP6500_GL=C1orf52;ESP6500_GRCh38_POSITION=1:85258645;ESP6500_GTC=205,1935,4363;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198077.3:c.354G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198077.3:p.(P118);ESP6500_MAF=20.314,13.5724,18.0301;ESP6500_TAC=2345,10661	GT:AD:DP:GQ:PL	0/1:13,10:23:99:271,0,384
chr1	85259230	rs78452039	G	C	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.712;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.11;ReadPosRankSum=1.98;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78452039;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|C1orf52|C1orf52|transcript|NM_198077.3|protein_coding|1/2|c.276+128C>G||||||,C|intron_variant|MODIFIER|C1orf52|C1orf52|transcript|NR_024113.1|pseudogene|1/3|n.315+128C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=125;p3_1000G_AF=0.0249601;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=7511;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85724913;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:64:64,0,174
chr1	85259276	rs200114577	ACAGCAGGTCCC	A	106.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=1.29;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs200114577;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|C1orf52|C1orf52|transcript|NM_198077.3|protein_coding|1/2|c.276+71_276+81delGGGACCTGCTG||||||,A|intron_variant|MODIFIER|C1orf52|C1orf52|transcript|NR_024113.1|pseudogene|1/3|n.315+71_315+81delGGGACCTGCTG||||||	GT:AD:DP:GQ:PL	0/1:8,4:12:99:144,0,324
chr1	85276238	rs2735594	G	C	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.228;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.41;ReadPosRankSum=-1.137;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2735594;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|LOC646626|LOC646626|transcript|NR_045484.1|pseudogene||n.-120G>C|||||120|,C|intron_variant|MODIFIER|BCL10|BCL10|transcript|NM_003921.4|protein_coding|1/2|c.57+58C>G||||||,C|intron_variant|MODIFIER|BCL10|BCL10|transcript|NM_001320715.1|protein_coding|1/2|c.57+58C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3859;p3_1000G_AF=0.770567;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=16140;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.7913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85741921;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1166,218;ESP6500_AA_GTC=489,188,15;ESP6500_CDS_SIZES=NM_003921.4:702;ESP6500_CG=4.6;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=2488,694;ESP6500_EA_GTC=970,548,73;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003921.4:intron;ESP6500_GL=BCL10;ESP6500_GRCh38_POSITION=1:85276238;ESP6500_GTC=1459,736,88;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_003921.4:c.57+58C>G;ESP6500_MAF=21.8102,15.7514,19.9737;ESP6500_TAC=3654,912	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,8:29:99:0|1:85276223_C_T:185,0,508
chr1	85276474	rs1060843;rs71585147	G	C	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=0.842;SOR=0.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71585147,rs1060843;dbSNPBuildID=130,86;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|BCL10|BCL10|transcript|NM_003921.4|protein_coding|1/3|c.-122C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|BCL10|BCL10|transcript|NM_001320715.1|protein_coding|1/3|c.-122C>G||||||,C|5_prime_UTR_variant|MODIFIER|BCL10|BCL10|transcript|NM_003921.4|protein_coding|1/3|c.-122C>G|||||122|,C|5_prime_UTR_variant|MODIFIER|BCL10|BCL10|transcript|NM_001320715.1|protein_coding|1/3|c.-122C>G|||||122|,C|non_coding_transcript_exon_variant|MODIFIER|LOC646626|LOC646626|transcript|NR_045484.1|pseudogene|1/2|n.117G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=628;p3_1000G_AF=0.125399;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=12170;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85742157;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:68:68,0,144
chr1	85404341	rs61769519	C	T	414.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.12;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.176;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61769519;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|DDAH1|DDAH1|transcript|NM_012137.3|protein_coding|1/5|c.304-45494G>A||||||,T|intron_variant|MODIFIER|DDAH1|DDAH1|transcript|NM_001134445.1|protein_coding|2/6|c.-6-45494G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=461;p3_1000G_AF=0.0920527;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=18943;p3_1000G_EAS_AF=0.0903;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85870024;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,19:52:99:443,0,836
chr1	85580878	rs2297140	C	A	143.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297140;dbSNPBuildID=100;ANN=A|5_prime_UTR_variant|MODIFIER|CYR61|CYR61|transcript|NM_001554.4|protein_coding|1/5|c.-107C>A|||||107|,A|upstream_gene_variant|MODIFIER|DDAH1|DDAH1|transcript|NM_001134445.1|protein_coding||c.-222037G>T|||||2515|;p3_1000G_AA=C|||;p3_1000G_AC=2933;p3_1000G_AF=0.585663;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=8461;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.5278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86046561;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:172,15,0
chr1	85581241	rs2297141	G	A	682.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.19;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.417;SOR=0.713;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297141;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|DDAH1|DDAH1|transcript|NM_001134445.1|protein_coding||c.-222400C>T|||||2878|,A|intron_variant|MODIFIER|CYR61|CYR61|transcript|NM_001554.4|protein_coding|1/4|c.64-124G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2341;p3_1000G_AF=0.467452;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=12281;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86046924;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,29:60:99:711,0,808
chr1	85654215	rs2274738	A	G	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.307;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-1.852;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274738;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ZNHIT6|ZNHIT6|transcript|NM_017953.3|protein_coding|9/9|c.1373-117T>C||||||,G|intron_variant|MODIFIER|ZNHIT6|ZNHIT6|transcript|NM_001170670.1|protein_coding|10/10|c.1256-117T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=968;p3_1000G_AF=0.193291;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=19645;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.3072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86119898;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:166,0,232
chr1	85680989	rs3767162	G	A	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.111;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373274473,rs3767162;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ZNHIT6|ZNHIT6|transcript|NM_017953.3|protein_coding|5/9|c.1020-85C>T||||||,A|intron_variant|MODIFIER|ZNHIT6|ZNHIT6|transcript|NM_001170670.1|protein_coding|6/10|c.903-85C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1921;p3_1000G_AF=0.383586;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=17340;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.4513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86146672;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:68:91,0,68
chr1	85702274	rs1764298	C	T	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1764298;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|ZNHIT6|ZNHIT6|transcript|NM_017953.3|protein_coding|4/9|c.916-14G>A||||||,T|intron_variant|MODIFIER|ZNHIT6|ZNHIT6|transcript|NM_001170670.1|protein_coding|5/10|c.799-14G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3539;p3_1000G_AF=0.706669;p3_1000G_AFR_AF=0.3442;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=17263;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86167957;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1961,2443;ESP6500_AA_AGE=520.1+/-370.2;ESP6500_AA_GTC=428,1105,669;ESP6500_CDS_SIZES=NM_017953.3:1413,NM_001170670.1:1296;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=37;ESP6500_EA_AC=7148,1444;ESP6500_EA_AGE=735.9+/-407.0;ESP6500_EA_GTC=2966,1216,114;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017953.3:intron,NM_001170670.1:intron;ESP6500_GL=ZNHIT6;ESP6500_GRCh38_POSITION=1:85702274;ESP6500_GTC=3394,2321,783;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017953.3:c.916-14G>A,NM_001170670.1:c.799-14G>A;ESP6500_MAF=16.8063,44.5277,29.9092;ESP6500_TAC=9109,3887	GT:AD:DP:GQ:PL	1/1:0,14:14:42:465,42,0
chr1	85707615	rs1539444	C	T	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.36;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=2.411;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.799;SOR=1.151;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1539444;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ZNHIT6|ZNHIT6|transcript|NM_017953.3|protein_coding|1/9|c.656+14G>A||||||,T|intron_variant|MODIFIER|ZNHIT6|ZNHIT6|transcript|NM_001170670.1|protein_coding|2/10|c.539+14G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2225;p3_1000G_AF=0.444289;p3_1000G_AFR_AF=0.3578;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=19092;p3_1000G_EAS_AF=0.5119;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86173298;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1718,2688;ESP6500_AA_AGE=640.3+/-397.3;ESP6500_AA_GTC=339,1040,824;ESP6500_CDS_SIZES=NM_017953.3:1413,NM_001170670.1:1296;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=95;ESP6500_EA_AC=4232,4368;ESP6500_EA_AGE=573.5+/-389.9;ESP6500_EA_GTC=1034,2164,1102;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017953.3:intron,NM_001170670.1:intron;ESP6500_GL=ZNHIT6;ESP6500_GRCh38_POSITION=1:85707615;ESP6500_GTC=1373,3204,1926;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017953.3:c.656+14G>A,NM_001170670.1:c.539+14G>A;ESP6500_MAF=49.2093,38.9923,45.7481;ESP6500_TAC=5950,7056	GT:AD:DP:GQ:PL	0/1:32,25:57:99:644,0,906
chr1	85736333	rs1481200	C	T	1876.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=1.43;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1481200;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|58/59|c.4782+1063G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4434;p3_1000G_AF=0.885383;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=18913;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.9692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86202016;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1905,186,0
chr1	85736419	rs12037785	C	A	1052.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.069;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=1.8;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=2.03;SOR=0.479;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12037785;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|58/59|c.4782+977G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=950;p3_1000G_AF=0.189696;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=19757;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86202102;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1081,0,1090
chr1	85744863	rs7547023	G	A	737.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7547023;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|56/59|c.4504-29C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4241;p3_1000G_AF=0.846845;p3_1000G_AFR_AF=0.6823;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=16029;p3_1000G_EAS_AF=0.9306;p3_1000G_EUR_AF=0.9692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86210546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8783;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2720,936;ESP6500_AA_GTC=1028,664,136;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=63;ESP6500_EA_AC=7878,276;ESP6500_EA_GTC=3805,268,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:85744863;ESP6500_GTC=4833,932,140;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.4504-29C>T;ESP6500_MAF=3.3848,25.6018,10.2625;ESP6500_TAC=10598,1212	GT:AD:DP:GQ:PL	1/1:0,25:25:75:766,75,0
chr1	85781166	rs313722	A	C	333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.84;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs313722;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|52/59|c.4338+54T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3621;p3_1000G_AF=0.723043;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=16639;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86246849;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=832,552;ESP6500_AA_GTC=257,318,117;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=4.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=43;ESP6500_EA_AC=2653,525;ESP6500_EA_GTC=1099,455,35;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:85781166;ESP6500_GTC=1356,773,152;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.4338+54T>G;ESP6500_MAF=16.5198,39.8844,23.6081;ESP6500_TAC=3485,1077	GT:AD:DP:GQ:PL	1/1:0,14:14:41:362,41,0
chr1	85783380	rs313724	C	T	734.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs313724;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|51/59|c.4284+116G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4494;p3_1000G_AF=0.897364;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=18968;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.9632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86249063;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:763,63,0
chr1	85784228	rs313725	A	G	1268.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.84;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs313725;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|49/59|c.4167+31T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4289;p3_1000G_AF=0.85643;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=17328;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.9642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86249911;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2672,1152;ESP6500_AA_GTC=942,788,182;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=100;ESP6500_EA_AC=7962,302;ESP6500_EA_GTC=3836,290,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:85784228;ESP6500_GTC=4778,1078,188;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.4167+31T>C;ESP6500_MAF=3.6544,30.1255,12.0285;ESP6500_TAC=10634,1454	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1297,132,0
chr1	85868387	rs313775	T	A	281.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.18;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs313775;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|37/59|c.3300+132A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2342;p3_1000G_AF=0.467652;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=19154;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86334070;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:310,30,0
chr1	85868633	rs17411495	T	C	476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.05;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17411495;dbSNPBuildID=123;ANN=C|splice_region_variant&intron_variant|LOW|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|36/59|c.3193-7A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=2333;p3_1000G_AF=0.465855;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=17470;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86334316;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1184,2452;ESP6500_AA_GTC=181,822,815;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=78;ESP6500_EA_AC=3499,4663;ESP6500_EA_GTC=713,2073,1295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:85868633;ESP6500_GTC=894,2895,2110;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.3193-7A>G;ESP6500_MAF=42.8694,32.5633,39.6932;ESP6500_TAC=4683,7115	GT:AD:DP:GQ:PL	1/1:0,17:17:51:505,51,0
chr1	85868992	rs11161693	T	C	46.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11161693;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|35/59|c.3139-157A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2057;p3_1000G_AF=0.410743;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=13243;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86334675;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:74,6,0
chr1	85874510	rs11161696	G	T	206.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.54;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11161696;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|35/59|c.3138+139C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3758;p3_1000G_AF=0.750399;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=18947;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.7942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86340193;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:235,21,0
chr1	85875111	rs1564516	T	C	100.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1564516;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|34/59|c.3084+166A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3601;p3_1000G_AF=0.71905;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=19797;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.7942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86340794;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:128,9,0
chr1	85875209	rs7536101	A	G	559.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7536101;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|34/59|c.3084+68T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2180;p3_1000G_AF=0.435304;p3_1000G_AFR_AF=0.2693;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=19384;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86340892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=386,998;ESP6500_AA_GTC=59,268,365;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=46;ESP6500_EA_AC=1341,1841;ESP6500_EA_GTC=278,785,528;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:85875209;ESP6500_GTC=337,1053,893;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.3084+68T>C;ESP6500_MAF=42.1433,27.8902,37.823;ESP6500_TAC=1727,2839	GT:AD:DP:GQ:PL	1/1:0,18:18:54:588,54,0
chr1	85896119	rs7541806	C	G	728.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7541806;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|29/59|c.2833-54G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3482;p3_1000G_AF=0.695288;p3_1000G_AFR_AF=0.5832;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=17272;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86361802;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=835,549;ESP6500_AA_GTC=253,329,110;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=88;ESP6500_EA_AC=2207,971;ESP6500_EA_GTC=771,665,153;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:85896119;ESP6500_GTC=1024,994,263;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.2833-54G>C;ESP6500_MAF=30.5538,39.6676,33.3187;ESP6500_TAC=3042,1520	GT:AD:DP:GQ:PL	1/1:0,24:24:71:757,71,0
chr1	85907156	rs576391147	T	TG	991.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.17;SOR=1.547;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5775877;dbSNPBuildID=142;ANN=TG|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|28/59|c.2778+37dupC||||||	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1029,106,0
chr1	85909971	rs1502657	C	G	1043.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1502657;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|26/60|c.2649G>C|p.Pro883Pro|2691/6500|2649/5145|883/1714||;p3_1000G_AA=G|||;p3_1000G_AC=3465;p3_1000G_AF=0.691893;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=14236;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.7008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86375654;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2297,1399;ESP6500_AA_GTC=707,883,258;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=201;ESP6500_EA_AC=5703,2463;ESP6500_EA_GTC=1981,1741,361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:coding-synonymous;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:85909971;ESP6500_GTC=2688,2624,619;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.2649G>C;ESP6500_HGVS_PROTEIN_VAR=NM_152890.5:p.(P883);ESP6500_MAF=30.1616,37.8517,32.5577;ESP6500_TAC=8000,3862	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1072,99,0
chr1	85911345	rs10493777	C	T	153.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10493777;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|25/59|c.2616+35G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1720;p3_1000G_AF=0.34345;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=16390;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.3221;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86377028;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=569,3009;ESP6500_AA_GTC=43,483,1263;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=32;ESP6500_EA_AC=2705,5395;ESP6500_EA_GTC=454,1797,1799;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:85911345;ESP6500_GTC=497,2280,3062;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.2616+35G>A;ESP6500_MAF=33.3951,15.9027,28.0356;ESP6500_TAC=3274,8404	GT:AD:DP:GQ:PL	1/1:0,6:6:18:182,18,0
chr1	86017275	rs17128726	T	A	132.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17128726;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|18/59|c.2257-71A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=927;p3_1000G_AF=0.185104;p3_1000G_AFR_AF=0.1808;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=16780;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86482958;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=219,1165;ESP6500_AA_GTC=15,189,488;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=13;ESP6500_EA_AC=66,3114;ESP6500_EA_GTC=0,66,1524;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86017275;ESP6500_GTC=15,255,2012;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.2257-71A>T;ESP6500_MAF=2.0755,15.8237,6.2445;ESP6500_TAC=285,4279	GT:AD:DP:GQ:PL	1/1:0,5:5:15:161,15,0
chr1	86022231	rs11161721	C	A	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.448;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=1.16;SOR=0.603;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11161721;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|18/59|c.2256+9G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1300;p3_1000G_AF=0.259585;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=16329;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.2873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86487914;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=852,2954;ESP6500_AA_GTC=106,640,1157;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=3.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=101;ESP6500_EA_AC=2367,5909;ESP6500_EA_GTC=328,1711,2099;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86022231;ESP6500_GTC=434,2351,3256;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.2256+9G>T;ESP6500_MAF=28.6008,22.3857,26.6429;ESP6500_TAC=3219,8863	GT:AD:DP:GQ:PL	0/1:15,21:36:99:536,0,317
chr1	86022298	rs516213	G	A	872.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs516213;dbSNPBuildID=83;ANN=A|splice_region_variant&intron_variant|LOW|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|17/59|c.2203-5C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3945;p3_1000G_AF=0.78774;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=17251;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.6431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86487981;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3240,394;ESP6500_AA_GTC=1449,342,26;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=4.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=72;ESP6500_EA_AC=5014,3148;ESP6500_EA_GTC=1601,1812,668;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86022298;ESP6500_GTC=3050,2154,694;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.2203-5C>T;ESP6500_MAF=38.569,10.842,30.0271;ESP6500_TAC=8254,3542	GT:AD:DP:GQ:PL	1/1:0,27:27:81:901,81,0
chr1	86022309	rs5775882;~rs67343926	A	AACAG	921.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.02;SOR=1.828;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5775882;dbSNPBuildID=132;ANN=AACAG|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|17/59|c.2203-20_2203-17dupCTGT||||||;p3_1000G_AC=3908;p3_1000G_AF=0.780351;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=17848;p3_1000G_EAS_AF=0.8552;p3_1000G_EUR_AF=0.6392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86487992;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=INDEL;ESP6500_AA_AC=3118,376;ESP6500_AA_GTC=1393,332,22;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=67;ESP6500_EA_AC=4793,3021;ESP6500_EA_GTC=1517,1759,631;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86022309;ESP6500_GTC=2910,2091,653;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.2203-17_2203-16insCTGT;ESP6500_MAF=38.6614,10.7613,30.0407;ESP6500_TAC=7911,3397	GT:AD:DP:GQ:PL	1/1:0,21:21:66:959,66,0
chr1	86046853	rs60891279	C	T	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.394;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=5.17;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.433;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60891279;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|12/60|c.1922G>A|p.Arg641His|1964/6500|1922/5145|641/1714||;p3_1000G_AA=C|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.1097;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=17486;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.1322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86512536;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=404,3202;ESP6500_AA_GTC=20,364,1419;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=114;ESP6500_EA_AC=1200,6924;ESP6500_EA_GTC=77,1046,2939;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152890.5:missense;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86046853;ESP6500_GS=29;ESP6500_GTC=97,1410,4358;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.1922G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152890.5:p.(R641H);ESP6500_MAF=14.771,11.2035,13.6743;ESP6500_PH=benign:0.025;ESP6500_TAC=1604,10126	GT:AD:DP:GQ:PL	0/1:19,14:33:99:310,0,484
chr1	86092284	rs11161732	G	A	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.711;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.917;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11161732;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|6/60|c.1636C>T|p.Pro546Ser|1678/6500|1636/5145|546/1714||;p3_1000G_AA=g|||;p3_1000G_AC=1854;p3_1000G_AF=0.370208;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=14797;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.3767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86557967;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1273,2313;ESP6500_AA_GTC=229,815,749;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=50;ESP6500_EA_AC=3097,5009;ESP6500_EA_GTC=589,1919,1545;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152890.5:missense;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86092284;ESP6500_GS=74;ESP6500_GTC=818,2734,2294;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.1636C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152890.5:p.(P546S);ESP6500_MAF=38.2063,35.4992,37.376;ESP6500_PH=benign:0.005;ESP6500_TAC=4370,7322	GT:AD:DP:GQ:PL	0/1:8,5:13:99:128,0,195
chr1	86125232	rs2174767	G	A	3270.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=103;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=0.752;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2174767;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|3/60|c.1104C>T|p.Ser368Ser|1146/6500|1104/5145|368/1714||;p3_1000G_AA=A|||;p3_1000G_AC=4830;p3_1000G_AF=0.964457;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=18063;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86590915;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3531,307;ESP6500_AA_GTC=1630,271,18;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=146;ESP6500_EA_AC=8234,6;ESP6500_EA_GTC=4114,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:coding-synonymous;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86125232;ESP6500_GTC=5744,277,18;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.1104C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152890.5:p.(S368);ESP6500_MAF=0.0728,7.999,2.5915;ESP6500_TAC=11765,313	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3299,307,0
chr1	86125458	rs17128866	A	G	1632.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=118;ExcessHet=3.0103;FS=5.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.631;SOR=0.359;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17128866;dbSNPBuildID=123;ANN=G|missense_variant|MODERATE|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|3/60|c.878T>C|p.Ile293Thr|920/6500|878/5145|293/1714||;p3_1000G_AA=A|||;p3_1000G_AC=321;p3_1000G_AF=0.0640974;p3_1000G_AFR_AF=0.0227;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=19786;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86591141;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=93,3577;ESP6500_AA_GTC=5,83,1747;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=106;ESP6500_EA_AC=637,7565;ESP6500_EA_GTC=24,589,3488;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152890.5:missense;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86125458;ESP6500_GS=89;ESP6500_GTC=29,672,5235;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.878T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152890.5:p.(I293T);ESP6500_MAF=7.7664,2.5341,6.1489;ESP6500_PH=benign:0.103;ESP6500_TAC=730,11142	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1661,0,1370
chr1	86125672	rs117871299	A	G	595.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=4.575;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.64;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117871299;dbSNPBuildID=132;ANN=G|synonymous_variant|LOW|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|3/60|c.664T>C|p.Leu222Leu|706/6500|664/5145|222/1714||;p3_1000G_AA=A|||;p3_1000G_AC=95;p3_1000G_AF=0.0189696;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=19460;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86591355;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=0,3794;ESP6500_AA_GTC=0,0,1897;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=47;ESP6500_EA_AC=2,8226;ESP6500_EA_GTC=0,2,4112;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:coding-synonymous;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86125672;ESP6500_GTC=0,2,6009;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.664T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152890.5:p.(L222);ESP6500_MAF=0.0243,0.0,0.0166;ESP6500_TAC=2,12020	GT:AD:DP:GQ:PL	0/1:19,21:40:99:624,0,547
chr1	86146019	rs2892908	T	C	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.262;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2892908;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|2/59|c.121+100A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=513;p3_1000G_AF=0.102436;p3_1000G_AFR_AF=0.0439;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=16635;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.0676;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86611702;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:182,0,123
chr1	86156309	rs1999747	C	A	927.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.75;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1999747;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|1/59|c.56+32G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2756;p3_1000G_AF=0.550319;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=15343;p3_1000G_EAS_AF=0.5506;p3_1000G_EUR_AF=0.7018;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86621992;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1884,1888;ESP6500_AA_GTC=460,964,462;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=-1.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=97;ESP6500_EA_AC=5801,2389;ESP6500_EA_GTC=2069,1663,363;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86156309;ESP6500_GTC=2529,2627,825;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.56+32G>T;ESP6500_MAF=29.1697,49.947,35.7549;ESP6500_TAC=7685,4277	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:72:1|1:86156309_C_A:956,72,0
chr1	86156315	rs41287729	C	T	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.604;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.583;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.24;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41287729;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|COL24A1|COL24A1|transcript|NM_152890.5|protein_coding|1/59|c.56+26G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=357;p3_1000G_AF=0.0712859;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=15381;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.0606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86621998;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=73,3693;ESP6500_AA_GTC=2,69,1812;ESP6500_CDS_SIZES=NM_152890.5:5145;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=104;ESP6500_EA_AC=630,7562;ESP6500_EA_GTC=24,582,3490;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152890.5:intron;ESP6500_GL=COL24A1;ESP6500_GRCh38_POSITION=1:86156315;ESP6500_GTC=26,651,5302;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152890.5:c.56+26G>A;ESP6500_MAF=7.6904,1.9384,5.8789;ESP6500_TAC=703,11255	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,14:27:99:0|1:86156309_C_A:341,0,362
chr1	86352889	rs272496	T	C	527.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.634;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs272496;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001007022.2|protein_coding|17/18|c.1863A>G|p.Glu621Glu|2225/4370|1863/1911|621/636||,C|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001184765.1|protein_coding|16/17|c.1704A>G|p.Glu568Glu|2073/4158|1704/1863|568/620||,C|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001184766.1|protein_coding|15/16|c.1617A>G|p.Glu539Glu|1986/4071|1617/1776|539/591||,C|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_020729.2|protein_coding|17/18|c.1815A>G|p.Glu605Glu|2184/4329|1815/1863|605/620||,C|downstream_gene_variant|MODIFIER|MIR7856|MIR7856|transcript|NR_107010.1|pseudogene||n.*4743A>G|||||4743|;p3_1000G_AA=T|||;p3_1000G_AC=3712;p3_1000G_AF=0.741214;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=16896;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.6451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86818572;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3335,1063;ESP6500_AA_AGE=712.9+/-408.2;ESP6500_AA_GTC=1275,785,139;ESP6500_CDS_SIZES=NM_020729.2:1863,NM_001184766.1:1776,NM_001184765.1:1863,NM_001007022.2:1911;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=108;ESP6500_EA_AC=5583,3009;ESP6500_EA_AGE=657.4+/-401.5;ESP6500_EA_GTC=1805,1973,518;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020729.2:coding-synonymous,NM_001184766.1:coding-synonymous,NM_001184765.1:coding-synonymous,NM_001007022.2:coding-synonymous;ESP6500_GL=ODF2L;ESP6500_GRCh38_POSITION=1:86352889;ESP6500_GTC=3080,2758,657;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020729.2:c.1815A>G,NM_001184766.1:c.1617A>G,NM_001184765.1:c.1704A>G,NM_001007022.2:c.1863A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020729.2:p.(E605),NM_001184766.1:p.(E539),NM_001184765.1:p.(E568),NM_001007022.2:p.(E621);ESP6500_MAF=35.0209,24.1701,31.3472;ESP6500_TAC=8918,4072	GT:AD:DP:GQ:PL	0/1:16,22:38:99:556,0,285
chr1	86354584	rs1182098	C	T	487.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.205;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.12;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1182098;dbSNPBuildID=87;ANN=T|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001007022.2|protein_coding|16/18|c.1713G>A|p.Glu571Glu|2075/4370|1713/1911|571/636||,T|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001184765.1|protein_coding|15/17|c.1554G>A|p.Glu518Glu|1923/4158|1554/1863|518/620||,T|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001184766.1|protein_coding|14/16|c.1467G>A|p.Glu489Glu|1836/4071|1467/1776|489/591||,T|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_020729.2|protein_coding|16/18|c.1665G>A|p.Glu555Glu|2034/4329|1665/1863|555/620||,T|downstream_gene_variant|MODIFIER|MIR7856|MIR7856|transcript|NR_107010.1|pseudogene||n.*3048G>A|||||3048|;p3_1000G_AA=c|||;p3_1000G_AC=3779;p3_1000G_AF=0.754593;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=17940;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86820267;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3413,993;ESP6500_AA_AGE=729.3+/-410.0;ESP6500_AA_GTC=1332,749,122;ESP6500_CDS_SIZES=NM_020729.2:1863,NM_001184766.1:1776,NM_001184765.1:1863,NM_001007022.2:1911;ESP6500_CG=-0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=142;ESP6500_EA_AC=5662,2938;ESP6500_EA_AGE=668.2+/-402.5;ESP6500_EA_GTC=1850,1962,488;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020729.2:coding-synonymous,NM_001184766.1:coding-synonymous,NM_001184765.1:coding-synonymous,NM_001007022.2:coding-synonymous;ESP6500_GL=ODF2L;ESP6500_GRCh38_POSITION=1:86354584;ESP6500_GTC=3182,2711,610;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020729.2:c.1665G>A,NM_001184766.1:c.1467G>A,NM_001184765.1:c.1554G>A,NM_001007022.2:c.1713G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020729.2:p.(E555),NM_001184766.1:p.(E489),NM_001184765.1:p.(E518),NM_001007022.2:p.(E571);ESP6500_MAF=34.1628,22.5374,30.2245;ESP6500_TAC=9075,3931	GT:AD:DP:GQ:PL	0/1:21,18:39:99:516,0,628
chr1	86355511	rs10676142;rs111830162	A	ACT	118.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-0.842;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10676142,rs111830162;dbSNPBuildID=132,126;ANN=ACT|downstream_gene_variant|MODIFIER|MIR7856|MIR7856|transcript|NR_107010.1|pseudogene||n.*2119_*2120dupAG|||||2120|,ACT|intron_variant|MODIFIER|ODF2L|ODF2L|transcript|NM_001007022.2|protein_coding|14/17|c.1519-654_1519-653dupAG||||||,ACT|intron_variant|MODIFIER|ODF2L|ODF2L|transcript|NM_001184765.1|protein_coding|13/16|c.1360-654_1360-653dupAG||||||,ACT|intron_variant|MODIFIER|ODF2L|ODF2L|transcript|NM_001184766.1|protein_coding|12/15|c.1273-654_1273-653dupAG||||||,ACT|intron_variant|MODIFIER|ODF2L|ODF2L|transcript|NM_020729.2|protein_coding|13/17|c.1432-130_1432-129dupAG||||||;p3_1000G_AC=3712;p3_1000G_AF=0.741214;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=16308;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86821194;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,4:6:73:156,0,73
chr1	86386938	rs2390096	A	G	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.048;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0;SOR=0.694;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2390096;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001007022.2|protein_coding|2/18|c.90T>C|p.Cys30Cys|452/4370|90/1911|30/636||,G|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001184765.1|protein_coding|2/17|c.90T>C|p.Cys30Cys|459/4158|90/1863|30/620||,G|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_001184766.1|protein_coding|2/16|c.90T>C|p.Cys30Cys|459/4071|90/1776|30/591||,G|synonymous_variant|LOW|ODF2L|ODF2L|transcript|NM_020729.2|protein_coding|2/18|c.90T>C|p.Cys30Cys|459/4329|90/1863|30/620||;p3_1000G_AA=A|||;p3_1000G_AC=1576;p3_1000G_AF=0.314696;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=12595;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86852621;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1182,3224;ESP6500_AA_AGE=414.8+/-337.0;ESP6500_AA_GTC=171,840,1192;ESP6500_CDS_SIZES=NM_020729.2:1863,NM_001184766.1:1776,NM_001184765.1:1863,NM_001007022.2:1911;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=124;ESP6500_EA_AC=2923,5677;ESP6500_EA_AGE=455.7+/-363.9;ESP6500_EA_GTC=464,1995,1841;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020729.2:coding-synonymous,NM_001184766.1:coding-synonymous,NM_001184765.1:coding-synonymous,NM_001007022.2:coding-synonymous;ESP6500_GL=ODF2L;ESP6500_GRCh38_POSITION=1:86386938;ESP6500_GTC=635,2835,3033;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020729.2:c.90T>C,NM_001184766.1:c.90T>C,NM_001184765.1:c.90T>C,NM_001007022.2:c.90T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020729.2:p.(C30),NM_001184766.1:p.(C30),NM_001184765.1:p.(C30),NM_001007022.2:p.(C30);ESP6500_MAF=33.9884,26.8271,31.5624;ESP6500_TAC=4105,8901	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,9:14:99:0|1:86386938_A_G:200,0,134
chr1	86425248	rs1158505	T	A	396.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1158505;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|1/13|c.187-91T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3093;p3_1000G_AF=0.617612;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=17522;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86890931;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:425,36,0
chr1	86425322	rs1158506	C	A	790.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1158506;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|1/13|c.187-17C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2784;p3_1000G_AF=0.555911;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=17143;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.6113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86891005;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2200,2202;ESP6500_AA_GTC=562,1076,563;ESP6500_CDS_SIZES=NM_006536.5:2832;ESP6500_CG=4.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=41;ESP6500_EA_AC=5345,3201;ESP6500_EA_GTC=1681,1983,609;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006536.5:intron;ESP6500_GL=CLCA2;ESP6500_GRCh38_POSITION=1:86425322;ESP6500_GTC=2243,3059,1172;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_006536.5:c.187-17C>A;ESP6500_MAF=37.4561,49.9773,41.7285;ESP6500_TAC=7545,5403	GT:AD:DP:GQ:PL	1/1:0,28:28:84:819,84,0
chr1	86430858	rs3737672	G	A	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.981;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.542;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.852;SOR=1.15;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737672;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|3/13|c.476-4G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1834;p3_1000G_AF=0.366214;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=19104;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86896541;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1372,3034;ESP6500_AA_AGE=690.0+/-405.2;ESP6500_AA_GTC=218,936,1049;ESP6500_CDS_SIZES=NM_006536.5:2832;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=157;ESP6500_EA_AC=2933,5667;ESP6500_EA_AGE=669.5+/-402.7;ESP6500_EA_GTC=468,1997,1835;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006536.5:intron;ESP6500_GL=CLCA2;ESP6500_GRCh38_POSITION=1:86430858;ESP6500_GTC=686,2933,2884;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006536.5:c.476-4G>A;ESP6500_MAF=34.1047,31.1394,33.1001;ESP6500_TAC=4305,8701	GT:AD:DP:GQ:PL	0/1:11,17:28:99:400,0,261
chr1	86431023	rs3737673	C	A	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.406;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.023;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737673;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|4/13|c.584+53C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1179;p3_1000G_AF=0.235423;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18897;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.3469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86896706;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:117,0,269
chr1	86432287	rs12407985	T	A	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.82;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.291;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12407985;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|4/13|c.585-82T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1180;p3_1000G_AF=0.235623;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18551;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.3479;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86897970;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,4:10:99:0|1:86432287_T_A:126,0,162
chr1	86432290	rs1334150	T	C	357.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1334150;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|4/13|c.585-79T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4066;p3_1000G_AF=0.811901;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=18618;p3_1000G_EAS_AF=0.7351;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86897973;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:30:1|1:86432287_T_A:386,30,0
chr1	86434649	rs17449526	T	C	880.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.28;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.671;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17449526;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|6/14|c.876T>C|p.Asn292Asn|1038/4024|876/2832|292/943||;p3_1000G_AA=T|||;p3_1000G_AC=1176;p3_1000G_AF=0.234824;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18290;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.3449;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86900332;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=751,3655;ESP6500_AA_AGE=308.8+/-290.8;ESP6500_AA_GTC=74,603,1526;ESP6500_CDS_SIZES=NM_006536.5:2832;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=189;ESP6500_EA_AC=2926,5674;ESP6500_EA_AGE=456.6+/-364.1;ESP6500_EA_GTC=483,1960,1857;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006536.5:coding-synonymous;ESP6500_GL=CLCA2;ESP6500_GRCh38_POSITION=1:86434649;ESP6500_GTC=557,2563,3383;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006536.5:c.876T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006536.5:p.(N292);ESP6500_MAF=34.0233,17.0449,28.2716;ESP6500_TAC=3677,9329	GT:AD:DP:GQ:PL	0/1:42,32:74:99:909,0,1016
chr1	86434689	rs17409304	C	G	761.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.858;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.453;SOR=0.901;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17409304;dbSNPBuildID=123;ANN=G|missense_variant|MODERATE|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|6/14|c.916C>G|p.Gln306Glu|1078/4024|916/2832|306/943||;p3_1000G_AA=C|||;p3_1000G_AC=1176;p3_1000G_AF=0.234824;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=20537;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.3449;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86900372;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=750,3656;ESP6500_AA_AGE=308.6+/-290.6;ESP6500_AA_GTC=74,602,1527;ESP6500_CDS_SIZES=NM_006536.5:2832;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=148;ESP6500_EA_AC=2926,5674;ESP6500_EA_AGE=456.6+/-364.1;ESP6500_EA_GTC=483,1960,1857;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006536.5:missense;ESP6500_GL=CLCA2;ESP6500_GRCh38_POSITION=1:86434689;ESP6500_GS=29;ESP6500_GTC=557,2562,3384;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006536.5:c.916C>G;ESP6500_HGVS_PROTEIN_VAR=NM_006536.5:p.(Q306E);ESP6500_MAF=34.0233,17.0222,28.2639;ESP6500_PH=probably-damaging:0.976;ESP6500_TAC=3676,9330	GT:AD:DP:GQ:PL	0/1:34,27:61:99:790,0,942
chr1	86434808	rs56408800	C	T	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.851;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.36;ReadPosRankSum=-2.079;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56408800;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|6/13|c.972+63C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1177;p3_1000G_AF=0.235024;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=21628;p3_1000G_EAS_AF=0.1776;p3_1000G_EUR_AF=0.3439;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86900491;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2331;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:396,0,249
chr1	86444020	rs3820039	T	C	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.49;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=-0.91;SOR=0.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820039;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|10/13|c.1713+9T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=968;p3_1000G_AF=0.193291;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=18555;p3_1000G_EAS_AF=0.1319;p3_1000G_EUR_AF=0.2952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86909703;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=667,3739;ESP6500_AA_AGE=283.1+/-276.9;ESP6500_AA_GTC=60,547,1596;ESP6500_CDS_SIZES=NM_006536.5:2832;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=78;ESP6500_EA_AC=2579,6021;ESP6500_EA_AGE=417.2+/-352.4;ESP6500_EA_GTC=382,1815,2103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006536.5:intron;ESP6500_GL=CLCA2;ESP6500_GRCh38_POSITION=1:86444020;ESP6500_GTC=442,2362,3699;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006536.5:c.1713+9T>C;ESP6500_MAF=29.9884,15.1384,24.9577;ESP6500_TAC=3246,9760	GT:AD:DP:GQ:PL	0/1:9,13:22:99:386,0,253
chr1	86447582	rs2275001	C	T	910.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.267;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=1.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.104;SOR=0.699;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275001;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|11/14|c.1788C>T|p.Arg596Arg|1950/4024|1788/2832|596/943||;p3_1000G_AA=C|||;p3_1000G_AC=1275;p3_1000G_AF=0.254593;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=17596;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86913265;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=581,3825;ESP6500_AA_AGE=256.7+/-261.4;ESP6500_AA_GTC=40,501,1662;ESP6500_CDS_SIZES=NM_006536.5:2832;ESP6500_CG=-11.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=130;ESP6500_EA_AC=2352,6248;ESP6500_EA_AGE=393.4+/-344.3;ESP6500_EA_GTC=306,1740,2254;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006536.5:coding-synonymous;ESP6500_GL=CLCA2;ESP6500_GRCh38_POSITION=1:86447582;ESP6500_GTC=346,2241,3916;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006536.5:c.1788C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006536.5:p.(R596);ESP6500_MAF=27.3488,13.1866,22.5511;ESP6500_TAC=2933,10073	GT:AD:DP:GQ:PL	0/1:49,38:87:99:939,0,1245
chr1	86455221	rs2390057	A	G	662.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.81;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=2.035;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.673;SOR=0.957;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2390057;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|CLCA2|CLCA2|transcript|NM_006536.5|protein_coding|14/14|c.2526A>G|p.Gln842Gln|2688/4024|2526/2832|842/943||;p3_1000G_AA=A|||;p3_1000G_AC=1647;p3_1000G_AF=0.328874;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=17291;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.335;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86920904;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1085,3321;ESP6500_AA_AGE=393.5+/-328.9;ESP6500_AA_GTC=142,801,1260;ESP6500_CDS_SIZES=NM_006536.5:2832;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=106;ESP6500_EA_AC=2876,5724;ESP6500_EA_AGE=451.3+/-362.6;ESP6500_EA_GTC=470,1936,1894;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006536.5:coding-synonymous;ESP6500_GL=CLCA2;ESP6500_GRCh38_POSITION=1:86455221;ESP6500_GTC=612,2737,3154;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006536.5:c.2526A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006536.5:p.(Q842);ESP6500_MAF=33.4419,24.6255,30.4552;ESP6500_TAC=3961,9045	GT:AD:DP:GQ:PL	0/1:54,26:80:99:691,0,1386
chr1	86473447	rs2145412	C	T	1332.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2145412;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|CLCA1|CLCA1|transcript|NM_001285.3|protein_coding|2/14|c.193C>T|p.Leu65Phe|322/3120|193/2745|65/914||;p3_1000G_AA=T|||;p3_1000G_AC=4418;p3_1000G_AF=0.882188;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=17433;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.9513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86939130;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3226,1180;ESP6500_AA_AGE=407.5+/-334.3;ESP6500_AA_GTC=1185,856,162;ESP6500_CDS_SIZES=NM_001285.3:2745;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=64;ESP6500_EA_AC=8277,323;ESP6500_EA_AGE=113.5+/-173.5;ESP6500_EA_GTC=3981,315,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001285.3:missense;ESP6500_GL=CLCA1;ESP6500_GRCh38_POSITION=1:86473447;ESP6500_GS=22;ESP6500_GTC=5166,1171,166;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001285.3:c.193C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001285.3:p.(L65F);ESP6500_MAF=3.7558,26.7817,11.5562;ESP6500_PH=benign:0.0;ESP6500_TAC=11503,1503	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1361,132,0
chr1	86473707	rs2180762	G	A	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2180762;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|CLCA1|CLCA1|transcript|NM_001285.3|protein_coding|2/13|c.304-22G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4583;p3_1000G_AF=0.915136;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=19232;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.9543;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86939390;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.955;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3581,825;ESP6500_AA_AGE=315.2+/-294.0;ESP6500_AA_GTC=1459,663,81;ESP6500_CDS_SIZES=NM_001285.3:2745;ESP6500_CG=4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=86;ESP6500_EA_AC=8310,290;ESP6500_EA_AGE=107.0+/-167.8;ESP6500_EA_GTC=4013,284,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001285.3:intron;ESP6500_GL=CLCA1;ESP6500_GRCh38_POSITION=1:86473707;ESP6500_GTC=5472,947,84;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001285.3:c.304-22G>A;ESP6500_MAF=3.3721,18.7245,8.573;ESP6500_TAC=11891,1115	GT:AD:DP:GQ:PL	1/1:0,15:15:45:513,45,0
chr1	86482292	rs1321694	A	T	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.077;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=5.86;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=1.37;SOR=1.209;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1321694;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|CLCA1|CLCA1|transcript|NM_001285.3|protein_coding|5/14|c.645A>T|p.Val215Val|774/3120|645/2745|215/914||;p3_1000G_AA=A|||;p3_1000G_AC=1841;p3_1000G_AF=0.367612;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=20995;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.3728;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86947975;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1116,3290;ESP6500_AA_AGE=398.8+/-331.0;ESP6500_AA_GTC=140,836,1227;ESP6500_CDS_SIZES=NM_001285.3:2745;ESP6500_CG=-2.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=128;ESP6500_EA_AC=3044,5556;ESP6500_EA_AGE=467.7+/-367.1;ESP6500_EA_GTC=534,1976,1790;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001285.3:coding-synonymous;ESP6500_GL=CLCA1;ESP6500_GRCh38_POSITION=1:86482292;ESP6500_GTC=674,2812,3017;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001285.3:c.645A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001285.3:p.(V215);ESP6500_MAF=35.3953,25.3291,31.9852;ESP6500_TAC=4160,8846	GT:AD:DP:GQ:PL	0/1:33,19:52:99:403,0,819
chr1	86486641	rs2734705	A	G	1200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.11;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-1.181;SOR=0.577;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2734705;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CLCA1|CLCA1|transcript|NM_001285.3|protein_coding|7/14|c.1070A>G|p.Asn357Ser|1199/3120|1070/2745|357/914||;p3_1000G_AA=G|||;p3_1000G_AC=4442;p3_1000G_AF=0.886981;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=17765;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86952324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4108,298;ESP6500_AA_AGE=164.7+/-196.3;ESP6500_AA_GTC=1912,284,7;ESP6500_CDS_SIZES=NM_001285.3:2745;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=131;ESP6500_EA_AC=7196,1404;ESP6500_EA_AGE=271.9+/-289.8;ESP6500_EA_GTC=3012,1172,116;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001285.3:missense;ESP6500_GL=CLCA1;ESP6500_GRCh38_POSITION=1:86486641;ESP6500_GS=46;ESP6500_GTC=4924,1456,123;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001285.3:c.1070A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001285.3:p.(N357S);ESP6500_MAF=16.3256,6.7635,13.0863;ESP6500_PH=benign:0.0;ESP6500_TAC=11304,1702	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1229,0,877
chr1	86493331	rs2753346	T	C	987.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=4.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2753346;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CLCA1|CLCA1|transcript|NM_001285.3|protein_coding|9/13|c.1465-53T>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=4277;p3_1000G_AF=0.854034;p3_1000G_AFR_AF=0.7292;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DP=19808;p3_1000G_EAS_AF=0.9107;p3_1000G_EUR_AF=0.8648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86959014;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:1016,78,0
chr1	86493490	rs2791494	T	C	2068.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2791494;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|CLCA1|CLCA1|transcript|NM_001285.3|protein_coding|10/14|c.1571T>C|p.Met524Thr|1700/3120|1571/2745|524/914||;p3_1000G_AA=C|||;p3_1000G_AC=4255;p3_1000G_AF=0.849641;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=18065;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.8241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86959173;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3393,1013;ESP6500_AA_AGE=376.8+/-322.2;ESP6500_AA_GTC=1291,811,101;ESP6500_CDS_SIZES=NM_001285.3:2745;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=149;ESP6500_EA_AC=7034,1566;ESP6500_EA_AGE=293.8+/-301.5;ESP6500_EA_GTC=2882,1270,148;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001285.3:missense;ESP6500_GL=CLCA1;ESP6500_GRCh38_POSITION=1:86493490;ESP6500_GS=81;ESP6500_GTC=4173,2081,249;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001285.3:c.1571T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001285.3:p.(M524T);ESP6500_MAF=18.2093,22.9914,19.8293;ESP6500_PH=benign:0.0;ESP6500_TAC=10427,2579	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2097,201,0
chr1	86498448	rs11302985	CT	C	604.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.76;SOR=4.174;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11302985;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|CLCA1|CLCA1|transcript|NM_001285.3|protein_coding|12/13|c.2114-123delT||||||;p3_1000G_AA=T|T|-|deletion;p3_1000G_AC=3649;p3_1000G_AF=0.728634;p3_1000G_AFR_AF=0.677;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=16745;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.7833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86964131;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,16:16:48:642,48,0
chr1	86499736	rs1882753	T	C	1878.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1882753;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|CLCA1|CLCA1|transcript|NM_001285.3|protein_coding|14/14|c.2436T>C|p.Thr812Thr|2565/3120|2436/2745|812/914||;p3_1000G_AA=T|||;p3_1000G_AC=1766;p3_1000G_AF=0.352636;p3_1000G_AFR_AF=0.2837;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=18120;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.2604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86965419;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1173,3231;ESP6500_AA_AGE=395.6+/-329.7;ESP6500_AA_GTC=162,849,1191;ESP6500_CDS_SIZES=NM_001285.3:2745;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=91;ESP6500_EA_AC=2238,6362;ESP6500_EA_AGE=375.2+/-337.7;ESP6500_EA_GTC=316,1606,2378;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001285.3:coding-synonymous;ESP6500_GL=CLCA1;ESP6500_GRCh38_POSITION=1:86499736;ESP6500_GTC=478,2455,3569;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001285.3:c.2436T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001285.3:p.(T812);ESP6500_MAF=26.0233,26.6349,26.2304;ESP6500_TAC=3411,9593	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1907,186,0
chr1	86560136	rs2231582	T	C	415.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.171;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.859;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-1.666;SOR=0.151;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2231582;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|CLCA4|CLCA4|transcript|NM_012128.3|protein_coding|2/13|c.300+64T>C||||||,C|intron_variant|MODIFIER|CLCA4|CLCA4|transcript|NR_024602.1|pseudogene|2/12|n.344+64T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=355;p3_1000G_AF=0.0708866;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=17021;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.1243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87025819;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,17:30:99:444,0,377
chr1	86571063	rs772599	C	A	1098.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs772599;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|LOC105378828|LOC105378828|transcript|NR_135837.1|pseudogene||n.*118G>T|||||118|,A|intron_variant|MODIFIER|CLCA4|CLCA4|transcript|NM_012128.3|protein_coding|7/13|c.1183-14C>A||||||,A|intron_variant|MODIFIER|CLCA4|CLCA4|transcript|NR_024602.1|pseudogene|6/12|n.1118-14C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4330;p3_1000G_AF=0.864617;p3_1000G_AFR_AF=0.8759;p3_1000G_AMR_AF=0.8617;p3_1000G_AN=5008;p3_1000G_DP=19780;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.7525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87036746;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3275,537;ESP6500_AA_GTC=1416,443,47;ESP6500_CDS_SIZES=NM_012128.3:2760;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=162;ESP6500_EA_AC=6108,2126;ESP6500_EA_GTC=2296,1516,305;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012128.3:intron;ESP6500_GL=CLCA4;ESP6500_GRCh38_POSITION=1:86571063;ESP6500_GTC=3712,1959,352;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_012128.3:c.1183-14C>A;ESP6500_MAF=25.8198,14.0871,22.1069;ESP6500_TAC=9383,2663	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1127,107,0
chr1	86571263	rs2231595	C	T	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.075;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.906;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.481;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2231595;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|CLCA4|CLCA4|transcript|NM_012128.3|protein_coding|8/13|c.1360+9C>T||||||,T|intron_variant|MODIFIER|CLCA4|CLCA4|transcript|NR_024602.1|pseudogene|7/12|n.1295+9C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC105378828|LOC105378828|transcript|NR_135837.1|pseudogene|5/5|n.1438G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=356;p3_1000G_AF=0.0710863;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=19178;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.1252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87036946;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=217,3597;ESP6500_AA_GTC=7,203,1697;ESP6500_CDS_SIZES=NM_012128.3:2760;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=141;ESP6500_EA_AC=983,7263;ESP6500_EA_GTC=50,883,3190;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012128.3:intron;ESP6500_GL=CLCA4;ESP6500_GRCh38_POSITION=1:86571263;ESP6500_GTC=57,1086,4887;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012128.3:c.1360+9C>T;ESP6500_MAF=11.9209,5.6896,9.9502;ESP6500_TAC=1200,10860	GT:AD:DP:GQ:PL	0/1:13,12:25:99:311,0,352
chr1	86572557	rs2231597	T	C	337.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.15;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2231597;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|CLCA4|CLCA4|transcript|NM_012128.3|protein_coding|8/13|c.1361-57T>C||||||,C|intron_variant|MODIFIER|LOC105378828|LOC105378828|transcript|NR_135837.1|pseudogene|4/4|n.1293-1149A>G||||||,C|intron_variant|MODIFIER|CLCA4|CLCA4|transcript|NR_024602.1|pseudogene|7/12|n.1296-57T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=360;p3_1000G_AF=0.071885;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=17052;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87038240;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:366,36,0
chr1	86580213	rs4001061;rs77067122	TCCTACA	T	4206.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.09;SOR=1.103;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs4001061,rs77067122;dbSNPBuildID=108,131;ANN=T|disruptive_inframe_deletion|MODERATE|CLCA4|CLCA4|transcript|NM_012128.3|protein_coding|14/14|c.2634_2639delACCTAC|p.Pro879_Thr880del|2678/3208|2634/2760|878/919||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|LOC105378828|LOC105378828|transcript|NR_135837.1|pseudogene|4/4|n.1293-8811_1293-8806delTGTAGG||||||,T|non_coding_transcript_exon_variant|MODIFIER|CLCA4|CLCA4|transcript|NR_024602.1|pseudogene|13/13|n.2569_2574delACCTAC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3541;p3_1000G_AF=0.707069;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=17981;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87045896;p3_1000G_GRCH37_REF=TCCTACA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,102:102:99:4244,307,0
chr1	86735046	rs263483	C	G	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=5.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.991;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs263483;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|SH3GLB1|SH3GLB1|transcript|NM_001206651.1|protein_coding|7/9|c.748-33C>G||||||,G|intron_variant|MODIFIER|SH3GLB1|SH3GLB1|transcript|NM_001206652.1|protein_coding|8/10|c.724-33C>G||||||,G|intron_variant|MODIFIER|SH3GLB1|SH3GLB1|transcript|NM_001206653.1|protein_coding|5/7|c.361-33C>G||||||,G|intron_variant|MODIFIER|SH3GLB1|SH3GLB1|transcript|NM_016009.4|protein_coding|6/8|c.661-33C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2852;p3_1000G_AF=0.569489;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=18041;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.3728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87200729;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3112,1294;ESP6500_AA_AGE=437.6+/-345.0;ESP6500_AA_GTC=1093,926,184;ESP6500_CDS_SIZES=NM_016009.4:1098,NM_001206653.1:798,NM_001206652.1:1161,NM_001206651.1:1185;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=68;ESP6500_EA_AC=3115,5485;ESP6500_EA_AGE=656.6+/-401.4;ESP6500_EA_GTC=556,2003,1741;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016009.4:intron,NM_001206653.1:intron,NM_001206652.1:intron,NM_001206651.1:intron;ESP6500_GL=SH3GLB1;ESP6500_GRCh38_POSITION=1:86735046;ESP6500_GTC=1649,2929,1925;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_016009.4:c.661-33C>G,NM_001206653.1:c.361-33C>G,NM_001206652.1:c.724-33C>G,NM_001206651.1:c.748-33C>G;ESP6500_MAF=36.2209,29.369,47.8779;ESP6500_TAC=6227,6779	GT:AD:DP:GQ:PL	0/1:22,16:38:99:494,0,594
chr1	86993012	rs10873810	G	A	462.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10873810;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_012262.3|protein_coding|1/6|c.124+77852G>A||||||,A|intron_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_001134492.1|protein_coding|1/4|c.124+77852G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3814;p3_1000G_AF=0.761581;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=17778;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87458695;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8487;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:491,42,0
chr1	87073279	rs1539610	G	A	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1539610;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_012262.3|protein_coding|2/6|c.363+107G>A||||||,A|intron_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_001134492.1|protein_coding|2/4|c.363+107G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4266;p3_1000G_AF=0.851837;p3_1000G_AFR_AF=0.7322;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=18980;p3_1000G_EAS_AF=0.9653;p3_1000G_EUR_AF=0.832;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87538962;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:72:1|1:87073279_G_A:873,72,0
chr1	87084175	rs2798675	A	G	723.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2798675;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_012262.3|protein_coding|2/6|c.364-19A>G||||||,G|intron_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_001134492.1|protein_coding|2/4|c.364-19A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4693;p3_1000G_AF=0.937101;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=16550;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87549858;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3854,552;ESP6500_AA_AGE=244.7+/-253.9;ESP6500_AA_GTC=1687,480,36;ESP6500_CDS_SIZES=NM_012262.3:1071,NM_001134492.1:690;ESP6500_CG=2.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=8010,588;ESP6500_EA_AGE=154.6+/-208.8;ESP6500_EA_GTC=3743,524,32;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012262.3:intron,NM_001134492.1:intron;ESP6500_GL=HS2ST1;ESP6500_GRCh38_POSITION=1:87084175;ESP6500_GTC=5430,1004,68;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012262.3:c.364-19A>G,NM_001134492.1:c.364-19A>G;ESP6500_MAF=6.8388,12.5284,8.7665;ESP6500_TAC=11864,1140	GT:AD:DP:GQ:PL	1/1:0,22:22:66:752,66,0
chr1	87097985	rs1199677	G	A	627.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1199677;dbSNPBuildID=87;ANN=A|3_prime_UTR_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_001134492.1|protein_coding|5/5|c.*46G>A|||||46|,A|intron_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_012262.3|protein_coding|5/6|c.686+50G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4842;p3_1000G_AF=0.966853;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=17699;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.9781;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87563668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9755;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4136,270;ESP6500_AA_AGE=154.0+/-187.5;ESP6500_AA_GTC=1946,244,13;ESP6500_CDS_SIZES=NM_012262.3:1071,NM_001134492.1:690;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=54;ESP6500_EA_AC=8297,303;ESP6500_EA_AGE=108.8+/-169.4;ESP6500_EA_GTC=4008,281,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012262.3:intron,NM_001134492.1:utr-3;ESP6500_GL=HS2ST1;ESP6500_GRCh38_POSITION=1:87097985;ESP6500_GTC=5954,525,24;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012262.3:c.686+50G>A,NM_001134492.1:c.*46G>A;ESP6500_MAF=3.5233,6.128,4.4057;ESP6500_TAC=12433,573	GT:AD:DP:GQ:PL	1/1:0,21:21:63:656,63,0
chr1	87104715	rs1621247	G	A	373.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1621247;dbSNPBuildID=89;ANN=A|3_prime_UTR_variant|MODIFIER|HS2ST1|HS2ST1|transcript|NM_012262.3|protein_coding|7/7|c.*19G>A|||||19|;p3_1000G_AA=G|||;p3_1000G_AC=3545;p3_1000G_AF=0.707867;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=19445;p3_1000G_EAS_AF=0.9653;p3_1000G_EUR_AF=0.7843;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87570398;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1801,2597;ESP6500_AA_GTC=396,1009,794;ESP6500_CDS_SIZES=NM_012262.3:1071;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=22;ESP6500_EA_AC=6710,1882;ESP6500_EA_GTC=2646,1418,232;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012262.3:utr-3;ESP6500_GL=HS2ST1;ESP6500_GRCh38_POSITION=1:87104715;ESP6500_GTC=3042,2427,1026;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012262.3:c.*19G>A;ESP6500_MAF=21.9041,40.9504,34.4804;ESP6500_TAC=8511,4479	GT:AD:DP:GQ:PL	1/1:0,11:11:33:402,33,0
chr1	87168078	rs10782593	C	T	839.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=2.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10782593;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LINC01140|LINC01140|transcript|NR_026989.1|pseudogene|2/2|n.336-58C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4683;p3_1000G_AF=0.935104;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=17346;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87633761;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9479;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:868,81,0
chr1	87243541	rs6576882	C	A	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.03;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.682;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6576882;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|LOC101927844|LOC101927844|transcript|NM_001290053.1|protein_coding|2/3|c.1-74C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1117;p3_1000G_AF=0.223043;p3_1000G_AFR_AF=0.2874;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=19779;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87709224;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1247;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,23:51:99:535,0,732
chr1	87243754	rs28379534	G	C	635.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.333;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.552;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=0.89;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28379534;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|LOC101927844|LOC101927844|transcript|NM_001290053.1|protein_coding|3/3|c.23+117G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1197;p3_1000G_AF=0.239018;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=20610;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87709437;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,25:38:99:664,0,391
chr1	87250750	rs72725847	C	T	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.226;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.324;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.39;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72725847;dbSNPBuildID=130;ANN=T|synonymous_variant|LOW|LOC101927844|LOC101927844|transcript|NM_001290053.1|protein_coding|4/4|c.273C>T|p.Phe91Phe|571/1152|273/348|91/115||;p3_1000G_AA=T|||;p3_1000G_AC=1210;p3_1000G_AF=0.241613;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=19893;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87716433;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,15:35:99:406,0,527
chr1	87250832	rs111758073	T	C	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.935;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.41;ReadPosRankSum=-1.032;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111758073;dbSNPBuildID=132;ANN=C|3_prime_UTR_variant|MODIFIER|LOC101927844|LOC101927844|transcript|NM_001290053.1|protein_coding|4/4|c.*7T>C|||||7|;p3_1000G_AA=C|||;p3_1000G_AC=1210;p3_1000G_AF=0.241613;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=17834;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87716515;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:118,0,236
chr1	88760293	rs430600	T	C	826.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs430600;dbSNPBuildID=80;ANN=C|synonymous_variant|LOW|PKN2|PKN2|transcript|NM_006256.3|protein_coding|3/22|c.421T>C|p.Leu141Leu|858/6199|421/2955|141/984||,C|synonymous_variant|LOW|PKN2|PKN2|transcript|NM_001320707.1|protein_coding|3/21|c.421T>C|p.Leu141Leu|858/6055|421/2811|141/936||,C|synonymous_variant|LOW|PKN2|PKN2|transcript|NM_001320709.1|protein_coding|3/22|c.421T>C|p.Leu141Leu|858/6151|421/2907|141/968||,C|5_prime_UTR_variant|MODIFIER|PKN2|PKN2|transcript|NM_001320708.1|protein_coding|2/21|c.-51T>C|||||51|;p3_1000G_AA=C|||;p3_1000G_AC=3759;p3_1000G_AF=0.750599;p3_1000G_AFR_AF=0.9304;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=16225;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.6561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89225976;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3237,387;ESP6500_AA_GTC=1451,335,26;ESP6500_CDS_SIZES=NM_006256.2:2955;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=89;ESP6500_EA_AC=5182,2964;ESP6500_EA_GTC=1640,1902,531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006256.2:coding-synonymous;ESP6500_GL=PKN2;ESP6500_GRCh38_POSITION=1:88760293;ESP6500_GTC=3091,2237,557;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006256.2:c.421T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006256.2:p.(L141);ESP6500_MAF=36.386,10.6788,28.4707;ESP6500_TAC=8419,3351	GT:AD:DP:GQ:PL	1/1:0,28:28:84:855,84,0
chr1	88770346	rs7541301	T	A	1114.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7541301;dbSNPBuildID=116;ANN=A|splice_region_variant&intron_variant|LOW|PKN2|PKN2|transcript|NM_006256.3|protein_coding|3/21|c.505-6T>A||||||,A|splice_region_variant&intron_variant|LOW|PKN2|PKN2|transcript|NM_001320707.1|protein_coding|3/20|c.505-6T>A||||||,A|splice_region_variant&intron_variant|LOW|PKN2|PKN2|transcript|NM_001320708.1|protein_coding|2/20|c.34-6T>A||||||,A|splice_region_variant&intron_variant|LOW|PKN2|PKN2|transcript|NM_001320709.1|protein_coding|3/21|c.505-6T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2555;p3_1000G_AF=0.510184;p3_1000G_AFR_AF=0.3548;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=15581;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89236029;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7198;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1497,2139;ESP6500_AA_GTC=309,879,630;ESP6500_CDS_SIZES=NM_006256.2:2955;ESP6500_CG=-2.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=4540,3622;ESP6500_EA_GTC=1264,2012,805;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006256.2:intron;ESP6500_GL=PKN2;ESP6500_GRCh38_POSITION=1:88770346;ESP6500_GTC=1573,2891,1435;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_006256.2:c.505-6T>A;ESP6500_MAF=44.3764,41.1716,48.8303;ESP6500_TAC=6037,5761	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1143,105,0
chr1	88805891	rs786906	T	C	737.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs786906;dbSNPBuildID=86;ANN=C|splice_region_variant&synonymous_variant|LOW|PKN2|PKN2|transcript|NM_006256.3|protein_coding|12/22|c.1677T>C|p.Ser559Ser|2114/6199|1677/2955|559/984||,C|splice_region_variant&synonymous_variant|LOW|PKN2|PKN2|transcript|NM_001320707.1|protein_coding|11/21|c.1533T>C|p.Ser511Ser|1970/6055|1533/2811|511/936||,C|splice_region_variant&synonymous_variant|LOW|PKN2|PKN2|transcript|NM_001320708.1|protein_coding|11/21|c.1206T>C|p.Ser402Ser|1813/5898|1206/2484|402/827||,C|splice_region_variant&synonymous_variant|LOW|PKN2|PKN2|transcript|NM_001320709.1|protein_coding|12/22|c.1629T>C|p.Ser543Ser|2066/6151|1629/2907|543/968||;p3_1000G_AA=T|||;p3_1000G_AC=2562;p3_1000G_AF=0.511581;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=17131;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89271574;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1495,2133;ESP6500_AA_GTC=310,875,629;ESP6500_CDS_SIZES=NM_006256.2:2955;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=61;ESP6500_EA_AC=4571,3605;ESP6500_EA_GTC=1268,2035,785;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006256.2:coding-synonymous-near-splice;ESP6500_GL=PKN2;ESP6500_GRCh38_POSITION=1:88805891;ESP6500_GTC=1578,2910,1414;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006256.2:c.1677T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006256.2:p.(S559);ESP6500_MAF=44.0925,41.2073,48.6106;ESP6500_TAC=6066,5738	GT:AD:DP:GQ:PL	1/1:0,24:24:72:766,72,0
chr1	88807836	rs573098001	T	C	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|PKN2|PKN2|transcript|NM_006256.3|protein_coding|15/21|c.2102+61T>C||||||,C|intron_variant|MODIFIER|PKN2|PKN2|transcript|NM_001320707.1|protein_coding|14/20|c.1958+61T>C||||||,C|intron_variant|MODIFIER|PKN2|PKN2|transcript|NM_001320708.1|protein_coding|14/20|c.1631+61T>C||||||,C|intron_variant|MODIFIER|PKN2|PKN2|transcript|NM_001320709.1|protein_coding|15/21|c.2054+61T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14765;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89273519;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:60:76,0,60
chr1	88857299	rs2794318	G	A	991.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2794318;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|GTF2B|GTF2B|transcript|NM_001514.5|protein_coding|6/7|c.724C>T|p.Leu242Leu|843/1645|724/951|242/316||;p3_1000G_AA=A|||;p3_1000G_AC=4938;p3_1000G_AF=0.986022;p3_1000G_AFR_AF=0.9493;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=15300;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89322982;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4179,227;ESP6500_AA_AGE=134.1+/-170.4;ESP6500_AA_GTC=1978,223,2;ESP6500_CDS_SIZES=NM_001514.5:951;ESP6500_CG=-10.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=91;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001514.5:coding-synonymous;ESP6500_GL=GTF2B;ESP6500_GRCh38_POSITION=1:88857299;ESP6500_GTC=6277,224,2;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001514.5:c.724C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001514.5:p.(L242);ESP6500_MAF=0.0116,5.1521,1.753;ESP6500_TAC=12778,228	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1020,93,0
chr1	88961219	rs3738055	G	A	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=2.795;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.515;SOR=1.21;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738055;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|KYAT3|KYAT3|transcript|NM_001008661.2|protein_coding|8/14|c.735C>T|p.Ser245Ser|1112/2152|735/1365|245/454||,A|synonymous_variant|LOW|KYAT3|KYAT3|transcript|NM_001008662.2|protein_coding|7/13|c.633C>T|p.Ser211Ser|1012/2052|633/1263|211/420||;p3_1000G_AA=G|||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=20966;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.4771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89426902;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1257,3149;ESP6500_AA_AGE=432.4+/-343.3;ESP6500_AA_GTC=188,881,1134;ESP6500_CDS_SIZES=NM_001008662.2:1263,NM_001008661.2:1365;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=154;ESP6500_EA_AC=4220,4380;ESP6500_EA_AGE=571.1+/-389.5;ESP6500_EA_GTC=1042,2136,1122;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001008662.2:coding-synonymous,NM_001008661.2:coding-synonymous;ESP6500_GL=CCBL2;ESP6500_GRCh38_POSITION=1:88961219;ESP6500_GTC=1230,3017,2256;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001008662.2:c.633C>T,NM_001008661.2:c.735C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001008662.2:p.(S211),NM_001008661.2:p.(S245);ESP6500_MAF=49.0698,28.5293,42.1113;ESP6500_TAC=5477,7529	GT:AD:DP:GQ:PL	0/1:18,21:39:99:523,0,430
chr1	88961569	rs10922530	G	A	93.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.241;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10922530;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|KYAT3|KYAT3|transcript|NM_001008661.2|protein_coding|6/13|c.541-63C>T||||||,A|intron_variant|MODIFIER|KYAT3|KYAT3|transcript|NM_001008662.2|protein_coding|5/12|c.439-63C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1381;p3_1000G_AF=0.275759;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=19526;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.3787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89427252;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:122,0,153
chr1	88964737	rs1536259	A	G	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.328;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1536259;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|KYAT3|KYAT3|transcript|NM_001008661.2|protein_coding|5/13|c.453+92T>C||||||,G|intron_variant|MODIFIER|KYAT3|KYAT3|transcript|NM_001008662.2|protein_coding|4/12|c.351+92T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=16964;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89430420;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:100,0,142
chr1	89013171	rs4656076	C	G	2293.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656076;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|GBP3|GBP3|transcript|NM_018284.2|protein_coding|6/10|c.868+14G>C||||||,G|intron_variant|MODIFIER|GBP3|GBP3|transcript|NM_001319179.1|protein_coding|7/11|c.631+14G>C||||||,G|intron_variant|MODIFIER|GBP3|GBP3|transcript|NM_001319180.1|protein_coding|6/10|c.466+14G>C||||||,G|intron_variant|MODIFIER|GBP3|GBP3|transcript|NR_135007.1|pseudogene|6/8|n.1073+14G>C||||||,G|intron_variant|MODIFIER|GBP3|GBP3|transcript|NM_001319181.1|protein_coding|6/9|c.868+14G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2741;p3_1000G_AF=0.547324;p3_1000G_AFR_AF=0.2534;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=19478;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.7604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89478854;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1635,2771;ESP6500_AA_AGE=660.1+/-400.7;ESP6500_AA_GTC=296,1043,864;ESP6500_CDS_SIZES=NM_018284.2:1788;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=91;ESP6500_EA_AC=6629,1971;ESP6500_EA_AGE=346.3+/-326.1;ESP6500_EA_GTC=2537,1555,208;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018284.2:intron;ESP6500_GL=GBP3;ESP6500_GRCh38_POSITION=1:89013171;ESP6500_GTC=2833,2598,1072;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_018284.2:c.868+14G>C;ESP6500_MAF=22.9186,37.1085,36.4601;ESP6500_TAC=8264,4742	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2322,210,0
chr1	89013185	rs113490655	G	A	2098.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=0.722;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs113490655;dbSNPBuildID=132;ANN=A|missense_variant&splice_region_variant|MODERATE|GBP3|GBP3|transcript|NM_018284.2|protein_coding|6/11|c.868C>T|p.Arg290Cys|1073/3040|868/1788|290/595||,A|missense_variant&splice_region_variant|MODERATE|GBP3|GBP3|transcript|NM_001319179.1|protein_coding|7/12|c.631C>T|p.Arg211Cys|1159/3126|631/1551|211/516||,A|missense_variant&splice_region_variant|MODERATE|GBP3|GBP3|transcript|NM_001319180.1|protein_coding|6/11|c.466C>T|p.Arg156Cys|1215/3182|466/1386|156/461||,A|missense_variant&splice_region_variant|MODERATE|GBP3|GBP3|transcript|NM_001319181.1|protein_coding|6/10|c.868C>T|p.Arg290Cys|1073/1886|868/1635|290/544||,A|splice_region_variant&non_coding_transcript_exon_variant|LOW|GBP3|GBP3|transcript|NR_135007.1|pseudogene|6/9|n.1073C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=676;p3_1000G_AF=0.134984;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=19236;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89478868;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=185,4221;ESP6500_AA_AGE=119.6+/-157.3;ESP6500_AA_GTC=5,175,2023;ESP6500_CDS_SIZES=NM_018284.2:1788;ESP6500_CG=3.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=106;ESP6500_EA_AC=1661,6939;ESP6500_EA_AGE=308.0+/-308.7;ESP6500_EA_GTC=156,1349,2795;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018284.2:missense-near-splice;ESP6500_GL=GBP3;ESP6500_GRCh38_POSITION=1:89013185;ESP6500_GS=180;ESP6500_GTC=161,1524,4818;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018284.2:c.868C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018284.2:p.(R290C);ESP6500_MAF=19.314,4.1988,14.1934;ESP6500_PH=probably-damaging:0.984;ESP6500_TAC=1846,11160	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2127,207,0
chr1	89013380	rs4656077	G	A	1370.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=2.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656077;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|GBP3|GBP3|transcript|NM_018284.2|protein_coding|6/11|c.673C>T|p.Arg225Trp|878/3040|673/1788|225/595||,A|missense_variant|MODERATE|GBP3|GBP3|transcript|NM_001319179.1|protein_coding|7/12|c.436C>T|p.Arg146Trp|964/3126|436/1551|146/516||,A|missense_variant|MODERATE|GBP3|GBP3|transcript|NM_001319180.1|protein_coding|6/11|c.271C>T|p.Arg91Trp|1020/3182|271/1386|91/461||,A|missense_variant|MODERATE|GBP3|GBP3|transcript|NM_001319181.1|protein_coding|6/10|c.673C>T|p.Arg225Trp|878/1886|673/1635|225/544||,A|non_coding_transcript_exon_variant|MODIFIER|GBP3|GBP3|transcript|NR_135007.1|pseudogene|6/9|n.878C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1671;p3_1000G_AF=0.333666;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=18338;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.4404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89479063;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1150,3256;ESP6500_AA_AGE=388.4+/-326.9;ESP6500_AA_GTC=142,866,1195;ESP6500_CDS_SIZES=NM_018284.2:1788;ESP6500_CG=2.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=104;ESP6500_EA_AC=3902,4698;ESP6500_EA_AGE=534.8+/-382.7;ESP6500_EA_GTC=871,2160,1269;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018284.2:missense;ESP6500_GL=GBP3;ESP6500_GRCh38_POSITION=1:89013380;ESP6500_GS=101;ESP6500_GTC=1013,3026,2464;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018284.2:c.673C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018284.2:p.(R225W);ESP6500_MAF=45.3721,26.1008,38.8436;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=5052,7954	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1399,123,0
chr1	89013391	rs4656078	C	T	1227.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=2.362;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656078;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|GBP3|GBP3|transcript|NM_018284.2|protein_coding|6/11|c.662G>A|p.Arg221Gln|867/3040|662/1788|221/595||,T|missense_variant|MODERATE|GBP3|GBP3|transcript|NM_001319179.1|protein_coding|7/12|c.425G>A|p.Arg142Gln|953/3126|425/1551|142/516||,T|missense_variant|MODERATE|GBP3|GBP3|transcript|NM_001319180.1|protein_coding|6/11|c.260G>A|p.Arg87Gln|1009/3182|260/1386|87/461||,T|missense_variant|MODERATE|GBP3|GBP3|transcript|NM_001319181.1|protein_coding|6/10|c.662G>A|p.Arg221Gln|867/1886|662/1635|221/544||,T|non_coding_transcript_exon_variant|MODIFIER|GBP3|GBP3|transcript|NR_135007.1|pseudogene|6/9|n.867G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1672;p3_1000G_AF=0.333866;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=18462;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.4404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89479074;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1146,3258;ESP6500_AA_AGE=371.7+/-320.1;ESP6500_AA_GTC=142,862,1198;ESP6500_CDS_SIZES=NM_018284.2:1788;ESP6500_CG=-0.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=97;ESP6500_EA_AC=3897,4703;ESP6500_EA_AGE=528.3+/-381.3;ESP6500_EA_GTC=871,2155,1274;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018284.2:missense;ESP6500_GL=GBP3;ESP6500_GRCh38_POSITION=1:89013391;ESP6500_GS=43;ESP6500_GTC=1013,3017,2472;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018284.2:c.662G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018284.2:p.(R221Q);ESP6500_MAF=45.314,26.0218,38.7804;ESP6500_PH=probably-damaging:0.997;ESP6500_TAC=5043,7961	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1256,117,0
chr1	89014075	rs3795543	T	C	3052.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795543;dbSNPBuildID=107;ANN=C|splice_region_variant&intron_variant|LOW|GBP3|GBP3|transcript|NM_018284.2|protein_coding|5/10|c.625+8A>G||||||,C|splice_region_variant&intron_variant|LOW|GBP3|GBP3|transcript|NM_001319179.1|protein_coding|6/11|c.388+8A>G||||||,C|splice_region_variant&intron_variant|LOW|GBP3|GBP3|transcript|NM_001319180.1|protein_coding|5/10|c.223+8A>G||||||,C|splice_region_variant&intron_variant|LOW|GBP3|GBP3|transcript|NR_135007.1|pseudogene|5/8|n.830+8A>G||||||,C|splice_region_variant&intron_variant|LOW|GBP3|GBP3|transcript|NM_001319181.1|protein_coding|5/9|c.625+8A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3222;p3_1000G_AF=0.643371;p3_1000G_AFR_AF=0.6165;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=19554;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.7614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89479758;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2942,1464;ESP6500_AA_AGE=470.5+/-355.8;ESP6500_AA_GTC=981,980,242;ESP6500_CDS_SIZES=NM_018284.2:1788;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=114;ESP6500_EA_AC=6637,1963;ESP6500_EA_AGE=344.4+/-325.3;ESP6500_EA_GTC=2543,1551,206;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018284.2:intron;ESP6500_GL=GBP3;ESP6500_GRCh38_POSITION=1:89014075;ESP6500_GTC=3524,2531,448;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018284.2:c.625+8A>G;ESP6500_MAF=22.8256,33.2274,26.3494;ESP6500_TAC=9579,3427	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3081,279,0
chr1	89020354	rs7555039	C	T	1379.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7555039;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|GBP3|GBP3|transcript|NM_018284.2|protein_coding|2/10|c.190+178G>A||||||,T|intron_variant|MODIFIER|GBP3|GBP3|transcript|NM_001319179.1|protein_coding|2/11|c.-133-143G>A||||||,T|intron_variant|MODIFIER|GBP3|GBP3|transcript|NM_001319180.1|protein_coding|2/10|c.-355+178G>A||||||,T|intron_variant|MODIFIER|GBP3|GBP3|transcript|NR_135007.1|pseudogene|2/8|n.395+178G>A||||||,T|intron_variant|MODIFIER|GBP3|GBP3|transcript|NM_001319181.1|protein_coding|2/9|c.190+178G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3216;p3_1000G_AF=0.642173;p3_1000G_AFR_AF=0.6014;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=23711;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89486037;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1408,126,0
chr1	89054646	rs66614512;rs72054220;rs150126543	GAAAAAC	G	817.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=1.292;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66614512,rs72054220;dbSNPBuildID=138,130;ANN=G|intron_variant|MODIFIER|GBP1|GBP1|transcript|NM_002053.2|protein_coding|10/10|c.1665+30_1665+35delGTTTTT||||||;p3_1000G_AC=1928;p3_1000G_AF=0.384984;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=19586;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.494;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89520329;p3_1000G_GRCH37_REF=GAAAAAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=INDEL;ESP6500_AA_AC=1252,3014;ESP6500_AA_GTC=187,878,1068;ESP6500_CDS_SIZES=NM_002053.2:1779;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=66;ESP6500_EA_AC=4176,4078;ESP6500_EA_GTC=1053,2070,1004;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002053.2:intron;ESP6500_GL=GBP1;ESP6500_GRCh38_POSITION=1:89054646;ESP6500_GTC=1240,2948,2072;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002053.2:c.1665+30_1665+35del6;ESP6500_MAF=49.4063,29.3483,43.3546;ESP6500_TAC=5428,7092	GT:AD:DP:GQ:PL	1/1:0,19:19:57:855,57,0
chr1	89054891	rs10922554	C	A	863.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.89;QD=31.99;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10922554;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GBP1|GBP1|transcript|NM_002053.2|protein_coding|9/10|c.1472-16G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3600;p3_1000G_AF=0.71885;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=22374;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.7694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89520574;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3588,818;ESP6500_AA_AGE=311.9+/-292.3;ESP6500_AA_GTC=1463,662,78;ESP6500_CDS_SIZES=NM_002053.2:1779;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=168;ESP6500_EA_AC=6779,1821;ESP6500_EA_AGE=315.0+/-312.1;ESP6500_EA_GTC=2653,1473,174;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002053.2:intron;ESP6500_GL=GBP1;ESP6500_GRCh38_POSITION=1:89054891;ESP6500_GTC=4116,2135,252;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002053.2:c.1472-16G>T;ESP6500_MAF=21.1744,18.5656,20.2906;ESP6500_TAC=10367,2639	GT:AD:DP:GQ:PL	1/1:0,27:27:81:892,81,0
chr1	89054953	rs10922555	G	A	995.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.62;QD=29.04;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10922555;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GBP1|GBP1|transcript|NM_002053.2|protein_coding|9/10|c.1472-78C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3591;p3_1000G_AF=0.717053;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=21389;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.7694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89520636;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:89054953_G_A:1024,69,0
chr1	89054960	rs10922556	C	T	995.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.62;QD=33.75;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10922556;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|GBP1|GBP1|transcript|NM_002053.2|protein_coding|9/10|c.1472-85G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3591;p3_1000G_AF=0.717053;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=21585;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.7694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89520643;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:89054953_G_A:1024,69,0
chr1	89056829	rs4376712	C	T	1088.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.02;SOR=1.418;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4376712;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|GBP1|GBP1|transcript|NM_002053.2|protein_coding|7/10|c.1155+25G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1785;p3_1000G_AF=0.35643;p3_1000G_AFR_AF=0.2005;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=21184;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.4632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89522512;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1209,3197;ESP6500_AA_GTC=176,857,1170;ESP6500_CDS_SIZES=NM_002053.2:1779;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=73;ESP6500_EA_AC=4192,4406;ESP6500_EA_GTC=1028,2136,1135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002053.2:intron;ESP6500_GL=GBP1;ESP6500_GRCh38_POSITION=1:89056829;ESP6500_GTC=1204,2993,2305;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002053.2:c.1155+25G>A;ESP6500_MAF=48.7555,27.4399,41.5334;ESP6500_TAC=5401,7603	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,34:34:99:1|1:89056819_G_T:1117,102,0
chr1	89056963	rs1048425	G	C	1948.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.74;QD=34.19;SOR=1.569;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1048425;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|GBP1|GBP1|transcript|NM_002053.2|protein_coding|7/11|c.1046C>G|p.Thr349Ser|1266/3050|1046/1779|349/592||;p3_1000G_AA=.|||;p3_1000G_AC=3597;p3_1000G_AF=0.718251;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=18570;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.7654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89522646;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3581,825;ESP6500_AA_AGE=326.9+/-299.8;ESP6500_AA_GTC=1457,667,79;ESP6500_CDS_SIZES=NM_002053.2:1779;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=94;ESP6500_EA_AC=6746,1854;ESP6500_EA_AGE=331.4+/-319.6;ESP6500_EA_GTC=2626,1494,180;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002053.2:missense;ESP6500_GL=GBP1;ESP6500_GRCh38_POSITION=1:89056963;ESP6500_GS=58;ESP6500_GTC=4083,2161,259;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002053.2:c.1046C>G;ESP6500_HGVS_PROTEIN_VAR=NM_002053.2:p.(T349S);ESP6500_MAF=21.5581,18.7245,20.5982;ESP6500_PH=benign:0.254;ESP6500_TAC=10327,2679	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1977,171,0
chr1	89108343	rs1329119	G	A	709.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1329119;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|GBP2|GBP2|transcript|NM_004120.4|protein_coding|10/10|c.1660-52C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3698;p3_1000G_AF=0.738419;p3_1000G_AFR_AF=0.8011;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=18834;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89574026;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2182,472;ESP6500_AA_GTC=901,380,46;ESP6500_CDS_SIZES=NM_004120.3:1776;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=63;ESP6500_EA_AC=3223,1395;ESP6500_EA_GTC=1109,1005,195;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004120.3:intron;ESP6500_GL=GBP2;ESP6500_GRCh38_POSITION=1:89108343;ESP6500_GTC=2010,1385,241;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004120.3:c.1660-52C>T;ESP6500_MAF=30.2079,17.7845,25.6738;ESP6500_TAC=5405,1867	GT:AD:DP:GQ:PL	1/1:0,23:23:69:738,69,0
chr1	89114258	rs2230338	T	C	2505.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=1.824;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2230338;dbSNPBuildID=108;ANN=C|missense_variant|MODERATE|GBP2|GBP2|transcript|NM_004120.4|protein_coding|7/11|c.907A>G|p.Ser303Gly|1221/4132|907/1776|303/591||;p3_1000G_AA=T|||;p3_1000G_AC=3140;p3_1000G_AF=0.626997;p3_1000G_AFR_AF=0.4614;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=18607;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.6441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89579941;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2287,2119;ESP6500_AA_AGE=599.8+/-389.4;ESP6500_AA_GTC=612,1063,528;ESP6500_CDS_SIZES=NM_004120.3:1776;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=64;ESP6500_EA_AC=5701,2899;ESP6500_EA_AGE=669.3+/-402.6;ESP6500_EA_GTC=1867,1967,466;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004120.3:missense;ESP6500_GL=GBP2;ESP6500_GRCh38_POSITION=1:89114258;ESP6500_GS=56;ESP6500_GTC=2479,3030,994;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004120.3:c.907A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004120.3:p.(S303G);ESP6500_MAF=33.7093,48.0935,38.5822;ESP6500_PH=benign:0.007;ESP6500_TAC=7988,5018	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2534,240,0
chr1	89117007	rs1803632	G	C	1050.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1803632;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|GBP2|GBP2|transcript|NM_004120.4|protein_coding|6/11|c.853C>G|p.Pro285Ala|1167/4132|853/1776|285/591||;p3_1000G_AA=G|||;p3_1000G_AC=3140;p3_1000G_AF=0.626997;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=17467;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.6431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89582690;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2288,2118;ESP6500_AA_AGE=600.1+/-389.4;ESP6500_AA_GTC=612,1064,527;ESP6500_CDS_SIZES=NM_004120.3:1776;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=109;ESP6500_EA_AC=5701,2899;ESP6500_EA_AGE=671.4+/-402.8;ESP6500_EA_GTC=1867,1967,466;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004120.3:missense;ESP6500_GL=GBP2;ESP6500_GRCh38_POSITION=1:89117007;ESP6500_GS=27;ESP6500_GTC=2479,3031,993;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004120.3:c.853C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004120.3:p.(P285A);ESP6500_MAF=33.7093,48.0708,38.5745;ESP6500_PH=benign:0.004;ESP6500_TAC=7989,5017	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1079,99,0
chr1	89117861	rs2209956	T	C	50.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2209956;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|GBP2|GBP2|transcript|NM_004120.4|protein_coding|4/10|c.429-88A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3139;p3_1000G_AF=0.626797;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=20507;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.6431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89583544;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:78,6,0
chr1	89132072	rs942442	T	C	228.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs942442;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|GBP7|GBP7|transcript|NM_207398.2|protein_coding|11/11|c.*77A>G|||||77|;p3_1000G_AA=T|||;p3_1000G_AC=3149;p3_1000G_AF=0.628794;p3_1000G_AFR_AF=0.4697;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=15415;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89597755;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:257,18,0
chr1	89149196	rs622861	T	C	553.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs622861;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|GBP7|GBP7|transcript|NM_207398.2|protein_coding|7/10|c.1152+96A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3703;p3_1000G_AF=0.739417;p3_1000G_AFR_AF=0.798;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=17197;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89614879;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:582,48,0
chr1	89150296	rs586609	C	T	945.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs586609;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|GBP7|GBP7|transcript|NM_207398.2|protein_coding|6/10|c.871+34G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3515;p3_1000G_AF=0.701877;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=19547;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.6461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89615979;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3264,1142;ESP6500_AA_AGE=711.6+/-408.0;ESP6500_AA_GTC=1213,838,152;ESP6500_CDS_SIZES=NM_207398.2:1917;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=56;ESP6500_EA_AC=5691,2909;ESP6500_EA_AGE=667.5+/-402.5;ESP6500_EA_GTC=1856,1979,465;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207398.2:intron;ESP6500_GL=GBP7;ESP6500_GRCh38_POSITION=1:89150296;ESP6500_GTC=3069,2817,617;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207398.2:c.871+34G>A;ESP6500_MAF=33.8256,25.9192,31.1472;ESP6500_TAC=8955,4051	GT:AD:DP:GQ:PL	1/1:0,29:29:87:974,87,0
chr1	89152789	rs10710842;rs68153673	GA	G	209.06	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.589;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=0.145;SOR=0.293;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10710842,rs68153673;dbSNPBuildID=137,130;ANN=G|intron_variant|MODIFIER|GBP7|GBP7|transcript|NM_207398.2|protein_coding|3/10|c.319-13delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3206;p3_1000G_AF=0.640176;p3_1000G_AFR_AF=0.6596;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=18212;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.6014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89618472;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,11:12:11:246,11,0
chr1	89171804	rs148592048	C	G	1079.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.23;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=3.247;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.287;SOR=1.201;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148592048;dbSNPBuildID=134;ANN=G|synonymous_variant|LOW|GBP7|GBP7|transcript|NM_207398.2|protein_coding|2/11|c.132G>C|p.Val44Val|271/2454|132/1917|44/638||;p3_1000G_AA=C|||;p3_1000G_AC=22;p3_1000G_AF=0.00439297;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16217;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89637487;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1108,0,895
chr1	89171895	rs676913	G	A	2670.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs676913;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|GBP7|GBP7|transcript|NM_207398.2|protein_coding|2/11|c.41C>T|p.Thr14Ile|180/2454|41/1917|14/638||;p3_1000G_AA=A|||;p3_1000G_AC=3579;p3_1000G_AF=0.714657;p3_1000G_AFR_AF=0.7776;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=18421;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.6431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89637578;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3495,911;ESP6500_AA_AGE=351.8+/-311.4;ESP6500_AA_GTC=1386,723,94;ESP6500_CDS_SIZES=NM_207398.2:1917;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=136;ESP6500_EA_AC=5693,2907;ESP6500_EA_AGE=454.4+/-363.5;ESP6500_EA_GTC=1857,1979,464;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207398.2:missense;ESP6500_GL=GBP7;ESP6500_GRCh38_POSITION=1:89171895;ESP6500_GS=89;ESP6500_GTC=3243,2702,558;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207398.2:c.41C>T;ESP6500_HGVS_PROTEIN_VAR=NM_207398.2:p.(T14I);ESP6500_MAF=33.8023,20.6764,29.3557;ESP6500_PH=benign:0.0;ESP6500_TAC=9188,3818	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2699,272,0
chr1	89186388	rs561042	T	C	1805.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.42;QD=28.63;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs561042;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1652A>G|p.Glu551Gly|1768/6145|1652/1923|551/640||;p3_1000G_AA=T|||;p3_1000G_AC=1790;p3_1000G_AF=0.357428;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18881;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.4881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652071;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=34,4372;ESP6500_AA_GTC=5,24,2174;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=156;ESP6500_EA_AC=186,8414;ESP6500_EA_GTC=23,140,4137;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052941.4:missense;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186388;ESP6500_GS=98;ESP6500_GTC=28,164,6311;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1652A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(E551G);ESP6500_MAF=2.1628,0.7717,1.6915;ESP6500_PH=benign:0.095;ESP6500_TAC=220,12786	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:89186388_T_C:1834,123,0
chr1	89186389	rs561037	C	T	1850.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.42;QD=28.01;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs561037;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1651G>A|p.Glu551Lys|1767/6145|1651/1923|551/640||;p3_1000G_AA=C|||;p3_1000G_AC=1797;p3_1000G_AF=0.358826;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=19123;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.4891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652072;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=21,4385;ESP6500_AA_GTC=1,19,2183;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=155;ESP6500_EA_AC=118,8482;ESP6500_EA_GTC=8,102,4190;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052941.4:missense;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186389;ESP6500_GS=56;ESP6500_GTC=9,121,6373;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1651G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(E551K);ESP6500_MAF=1.3721,0.4766,1.0687;ESP6500_PH=benign:0.001;ESP6500_TAC=139,12867	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:89186388_T_C:1879,126,0
chr1	89186395	rs608339	A	T	1861.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.42;QD=31.02;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs608339;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1645T>A|p.Leu549Met|1761/6145|1645/1923|549/640||;p3_1000G_AA=A|||;p3_1000G_AC=1800;p3_1000G_AF=0.359425;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18963;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.4891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652078;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=889,3517;ESP6500_AA_GTC=121,647,1435;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=147;ESP6500_EA_AC=4032,4562;ESP6500_EA_GTC=1093,1846,1358;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052941.4:missense;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186395;ESP6500_GS=15;ESP6500_GTC=1214,2493,2793;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1645T>A;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(L549M);ESP6500_MAF=46.9165,20.177,37.8538;ESP6500_PH=benign:0.011;ESP6500_TAC=4921,8079	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:89186388_T_C:1890,126,0
chr1	89186404	rs1142890	C	T	1816.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.56;QD=31.97;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1142890;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1636G>A|p.Glu546Lys|1752/6145|1636/1923|546/640||;p3_1000G_AA=C|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=17794;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.4881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652087;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=153,4247;ESP6500_AA_GTC=57,39,2104;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=128;ESP6500_EA_AC=1196,7214;ESP6500_EA_GTC=445,306,3454;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052941.4:missense;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186404;ESP6500_GS=56;ESP6500_GTC=502,345,5558;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1636G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(E546K);ESP6500_MAF=14.2212,3.4773,10.5308;ESP6500_PH=benign:0.001;ESP6500_TAC=1349,11461	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,41:41:99:1|1:89186388_T_C:1845,123,0
chr1	89186405	rs1142889	C	G	1816.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.56;QD=25.69;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1142889;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1635G>C|p.Met545Ile|1751/6145|1635/1923|545/640||;p3_1000G_AA=C|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=17779;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.4881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652088;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=157,4239;ESP6500_AA_GTC=61,35,2102;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=128;ESP6500_EA_AC=1187,7197;ESP6500_EA_GTC=439,309,3444;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052941.4:missense;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186405;ESP6500_GS=10;ESP6500_GTC=500,344,5546;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1635G>C;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(M545I);ESP6500_MAF=14.1579,3.5714,10.5164;ESP6500_PH=benign:0.004;ESP6500_TAC=1344,11436	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,41:41:99:1|1:89186388_T_C:1845,123,0
chr1	89186407	rs1142888	T	G	1861.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.56;QD=28.31;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1142888;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1633A>C|p.Met545Leu|1749/6145|1633/1923|545/640||;p3_1000G_AA=T|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18224;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.4881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652090;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=168,4232;ESP6500_AA_GTC=67,34,2099;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=127;ESP6500_EA_AC=1366,7080;ESP6500_EA_GTC=536,294,3393;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052941.4:missense;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186407;ESP6500_GS=15;ESP6500_GTC=603,328,5492;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1633A>C;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(M545L);ESP6500_MAF=16.1733,3.8182,11.9415;ESP6500_PH=benign:0.0;ESP6500_TAC=1534,11312	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,41:41:99:1|1:89186388_T_C:1890,126,0
chr1	89186411	rs1142887	G	A	1906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.82;QD=29.97;SOR=1.312;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1142887;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1629C>T|p.Ala543Ala|1745/6145|1629/1923|543/640||,A|sequence_feature|LOW|GBP4|GBP4|antibody-mapping:heterologous_protein_expression_evidence|NM_052941.4|protein_coding|10/11|c.1629C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18373;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.4881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652094;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=364,4038;ESP6500_AA_GTC=116,132,1953;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=125;ESP6500_EA_AC=2588,5944;ESP6500_EA_GTC=995,598,2673;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052941.4:coding-synonymous;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186411;ESP6500_GTC=1111,730,4626;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1629C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(A543);ESP6500_MAF=30.3329,8.269,22.8236;ESP6500_TAC=2952,9982	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:89186388_T_C:1935,129,0
chr1	89186414	rs1142886	C	T	1906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.82;QD=28.73;SOR=1.312;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1142886;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1626G>A|p.Met542Ile|1742/6145|1626/1923|542/640||;p3_1000G_AA=C|||;p3_1000G_AC=1801;p3_1000G_AF=0.359625;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18628;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.4891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652097;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=446,3960;ESP6500_AA_GTC=119,208,1876;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=126;ESP6500_EA_AC=2956,5644;ESP6500_EA_GTC=1064,828,2408;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052941.4:missense;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186414;ESP6500_GS=10;ESP6500_GTC=1183,1036,4284;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1626G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(M542I);ESP6500_MAF=34.3721,10.1226,26.1572;ESP6500_PH=benign:0.0;ESP6500_TAC=3402,9604	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:89186388_T_C:1935,129,0
chr1	89186419	rs655260	A	T	1906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.69;QD=29.83;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs655260;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|GBP4|GBP4|transcript|NM_052941.4|protein_coding|10/11|c.1621T>A|p.Tyr541Asn|1737/6145|1621/1923|541/640||;p3_1000G_AA=A|||;p3_1000G_AC=1801;p3_1000G_AF=0.359625;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18800;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.4891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89652102;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=435,3971;ESP6500_AA_GTC=120,195,1888;ESP6500_CDS_SIZES=NM_052941.4:1923;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=127;ESP6500_EA_AC=2958,5642;ESP6500_EA_GTC=1090,778,2432;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052941.4:missense;ESP6500_GL=GBP4;ESP6500_GRCh38_POSITION=1:89186419;ESP6500_GS=143;ESP6500_GTC=1210,973,4320;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_052941.4:c.1621T>A;ESP6500_HGVS_PROTEIN_VAR=NM_052941.4:p.(Y541N);ESP6500_MAF=34.3953,9.8729,26.088;ESP6500_PH=benign:0.0;ESP6500_TAC=3393,9613	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:89186388_T_C:1935,129,0
chr1	89195545	rs650448	T	G	583.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs650448;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|GBP4|GBP4|transcript|NM_052941.4|protein_coding|2/10|c.236-121A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3130;p3_1000G_AF=0.625;p3_1000G_AFR_AF=0.4107;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=18984;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89661228;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:612,48,0
chr1	89260909	rs535351	G	A	195.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs535351;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_001134486.2|protein_coding|10/10|c.1648-92C>T||||||,A|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_052942.3|protein_coding|11/11|c.1648-92C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3399;p3_1000G_AF=0.678714;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=21857;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89726592;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:224,18,0
chr1	89262187	rs76346754	A	T	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.6;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=6.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.422;SOR=2.118;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76346754;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_001134486.2|protein_coding|10/10|c.1647+33T>A||||||,T|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_052942.3|protein_coding|11/11|c.1647+33T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=715;p3_1000G_AF=0.142772;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=20713;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.1581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89727870;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=245,4161;ESP6500_AA_AGE=143.8+/-178.8;ESP6500_AA_GTC=8,229,1966;ESP6500_CDS_SIZES=NM_052942.3:1761,NM_001134486.2:1761;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=131;ESP6500_EA_AC=1507,7093;ESP6500_EA_AGE=285.7+/-297.3;ESP6500_EA_GTC=114,1279,2907;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052942.3:intron,NM_001134486.2:intron;ESP6500_GL=GBP5;ESP6500_GRCh38_POSITION=1:89262187;ESP6500_GTC=122,1508,4873;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_052942.3:c.1647+33T>A,NM_001134486.2:c.1647+33T>A;ESP6500_MAF=17.5233,5.5606,13.4707;ESP6500_TAC=1752,11254	GT:AD:DP:GQ:PL	0/1:16,19:35:99:540,0,356
chr1	89265040	rs9628688	C	T	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.891;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.77;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9628688;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_001134486.2|protein_coding|6/10|c.869-74G>A||||||,T|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_052942.3|protein_coding|7/11|c.869-74G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2134;p3_1000G_AF=0.426118;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=18685;p3_1000G_EAS_AF=0.3234;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89730723;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:298,0,279
chr1	89266276	rs12729209	G	A	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.087;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.31;ReadPosRankSum=-0.928;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12729209;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_001134486.2|protein_coding|6/10|c.868+70C>T||||||,A|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_052942.3|protein_coding|7/11|c.868+70C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2080;p3_1000G_AF=0.415335;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=19819;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.5736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89731959;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:272,0,133
chr1	89266554	rs61729628	G	A	461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.407;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=8.346;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.031;SOR=0.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61729628;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|GBP5|GBP5|transcript|NM_001134486.2|protein_coding|6/11|c.660C>T|p.Pro220Pro|1089/3943|660/1761|220/586||,A|synonymous_variant|LOW|GBP5|GBP5|transcript|NM_052942.3|protein_coding|7/12|c.660C>T|p.Pro220Pro|1197/4051|660/1761|220/586||;p3_1000G_AA=G|||;p3_1000G_AC=719;p3_1000G_AF=0.14357;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=16167;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89732237;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=244,4162;ESP6500_AA_AGE=143.1+/-178.2;ESP6500_AA_GTC=7,230,1966;ESP6500_CDS_SIZES=NM_052942.3:1761,NM_001134486.2:1761;ESP6500_CG=-1.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=99;ESP6500_EA_AC=1507,7093;ESP6500_EA_AGE=284.6+/-296.7;ESP6500_EA_GTC=114,1279,2907;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052942.3:coding-synonymous,NM_001134486.2:coding-synonymous;ESP6500_GL=GBP5;ESP6500_GRCh38_POSITION=1:89266554;ESP6500_GTC=121,1509,4873;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052942.3:c.660C>T,NM_001134486.2:c.660C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052942.3:p.(P220),NM_001134486.2:p.(P220);ESP6500_MAF=17.5233,5.5379,13.463;ESP6500_TAC=1751,11255	GT:AD:DP:GQ:PL	0/1:17,18:35:99:490,0,450
chr1	89267590	rs6690597	T	C	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.33;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.31;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6690597;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_001134486.2|protein_coding|3/10|c.319-64A>G||||||,C|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_052942.3|protein_coding|4/11|c.319-64A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2294;p3_1000G_AF=0.458067;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=18927;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.5736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89733273;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,9:22:99:280,0,388
chr1	89268591	rs3795542	A	C	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.47;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795542;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_001134486.2|protein_coding|3/10|c.318+138T>G||||||,C|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_052942.3|protein_coding|4/11|c.318+138T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2130;p3_1000G_AF=0.425319;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=20106;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89734274;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:143,0,141
chr1	89269631	rs3806338	G	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.097;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=6.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.65;SOR=0.053;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806338;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_001134486.2|protein_coding|1/10|c.-19-57C>T||||||,A|intron_variant|MODIFIER|GBP5|GBP5|transcript|NM_052942.3|protein_coding|2/11|c.-19-57C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=655;p3_1000G_AF=0.130791;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=18584;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.1223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89735314;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:237,0,306
chr1	89378476	rs35837853	T	C	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.55;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.607;SOR=0.746;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35837853;dbSNPBuildID=126;ANN=C|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_198460.2|protein_coding|5/11|c.488T>C|p.Val163Ala|762/4867|488/1902|163/633||,C|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|3/9|c.98T>C|p.Val33Ala|421/4526|98/1512|33/503||;p3_1000G_AA=T|||;p3_1000G_AC=511;p3_1000G_AF=0.102037;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=18582;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.0666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89844035;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=52,4354;ESP6500_AA_AGE=51.6+/-87.1;ESP6500_AA_GTC=0,52,2151;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=127;ESP6500_EA_AC=349,8251;ESP6500_EA_AGE=119.4+/-178.7;ESP6500_EA_GTC=1,347,3952;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198460.2:missense;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89378476;ESP6500_GS=64;ESP6500_GTC=1,399,6103;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.488T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198460.2:p.(V163A);ESP6500_MAF=4.0581,1.1802,3.0832;ESP6500_PH=benign:0.002;ESP6500_TAC=401,12605	GT:AD:DP:GQ:PL	0/1:27,19:46:99:532,0,660
chr1	89380367	rs11361992;rs398074142;rs67367078	GT	G	88.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.422;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.941;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.86;ReadPosRankSum=-0.399;SOR=0.252;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11361992,rs67367078;dbSNPBuildID=131,138,130;ANN=G|intron_variant|MODIFIER|GBP6|GBP6|transcript|NM_198460.2|protein_coding|5/10|c.626-10delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|3/8|c.236-10delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTCTT|TTTTTTTTT|TTTTTTTT|complex_insertion;p3_1000G_AC=4313;p3_1000G_AF=0.861222;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=19461;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.8897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89845926;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=INDEL;ESP6500_AA_AC=3892,368;ESP6500_AA_GTC=1780,332,18;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=60;ESP6500_EA_AC=7347,907;ESP6500_EA_GTC=3269,809,49;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198460.2:intron;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89380367;ESP6500_GTC=5049,1141,67;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.626-18del1;ESP6500_MAF=10.9886,8.6385,10.1886;ESP6500_TAC=11239,1275	GT:AD:DP:GQ:PL	0/1:17,6:23:99:126,0,413
chr1	89381813	rs4658359	G	T	930.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.179;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-1.205;SOR=0.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4658359;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_198460.2|protein_coding|7/11|c.991G>T|p.Ala331Ser|1265/4867|991/1902|331/633||,T|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|5/9|c.601G>T|p.Ala201Ser|924/4526|601/1512|201/503||;p3_1000G_AA=G|||;p3_1000G_AC=4036;p3_1000G_AF=0.805911;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=18227;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.7465;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89847372;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7843;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3878,528;ESP6500_AA_AGE=777.4+/-414.2;ESP6500_AA_GTC=1713,452,38;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=-0.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=75;ESP6500_EA_AC=6411,2189;ESP6500_EA_AGE=711.7+/-405.9;ESP6500_EA_GTC=2382,1647,271;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198460.2:missense;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89381813;ESP6500_GS=99;ESP6500_GTC=4095,2099,309;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.991G>T;ESP6500_HGVS_PROTEIN_VAR=NM_198460.2:p.(A331S);ESP6500_MAF=25.4535,11.9837,20.8904;ESP6500_PH=possibly-damaging:0.835;ESP6500_TAC=10289,2717	GT:AD:DP:GQ:PL	0/1:25,34:59:99:959,0,746
chr1	89381852	rs4658360	C	T	778.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.599;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0.994;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.711;SOR=0.825;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4658360;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_198460.2|protein_coding|7/11|c.1030C>T|p.Leu344Phe|1304/4867|1030/1902|344/633||,T|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|5/9|c.640C>T|p.Leu214Phe|963/4526|640/1512|214/503||;p3_1000G_AA=T|||;p3_1000G_AC=4036;p3_1000G_AF=0.805911;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=18811;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.7465;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89847411;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7843;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3878,528;ESP6500_AA_AGE=241.5+/-251.9;ESP6500_AA_GTC=1713,452,38;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=77;ESP6500_EA_AC=6411,2189;ESP6500_EA_AGE=374.6+/-337.4;ESP6500_EA_GTC=2382,1647,271;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198460.2:missense;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89381852;ESP6500_GS=22;ESP6500_GTC=4095,2099,309;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.1030C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198460.2:p.(L344F);ESP6500_MAF=25.4535,11.9837,20.8904;ESP6500_PH=benign:0.01;ESP6500_TAC=10289,2717	GT:AD:DP:GQ:PL	0/1:27,33:60:99:807,0,706
chr1	89381885	rs4658146	A	G	1110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-0.514;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4658146;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_198460.2|protein_coding|7/11|c.1063A>G|p.Met355Val|1337/4867|1063/1902|355/633||,G|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|5/9|c.673A>G|p.Met225Val|996/4526|673/1512|225/503||;p3_1000G_AA=G|||;p3_1000G_AC=4039;p3_1000G_AF=0.80651;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=19474;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.7485;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89847444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7843;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3878,528;ESP6500_AA_AGE=241.5+/-251.9;ESP6500_AA_GTC=1713,452,38;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=77;ESP6500_EA_AC=6411,2189;ESP6500_EA_AGE=374.6+/-337.4;ESP6500_EA_GTC=2383,1645,272;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198460.2:missense;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89381885;ESP6500_GS=21;ESP6500_GTC=4096,2097,310;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.1063A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198460.2:p.(M355V);ESP6500_MAF=25.4535,11.9837,20.8904;ESP6500_PH=benign:0.0;ESP6500_TAC=10289,2717	GT:AD:DP:GQ:PL	0/1:24,38:62:99:1139,0,508
chr1	89383642	rs928652	C	G	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.31;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs928652;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|GBP6|GBP6|transcript|NM_198460.2|protein_coding|8/10|c.1366-10C>G||||||,G|intron_variant|MODIFIER|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|6/8|c.976-10C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4310;p3_1000G_AF=0.860623;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=21009;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.8897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89849201;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4006,400;ESP6500_AA_AGE=197.7+/-221.8;ESP6500_AA_GTC=1825,356,22;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=66;ESP6500_EA_AC=7665,935;ESP6500_EA_AGE=205.9+/-248.2;ESP6500_EA_GTC=3414,837,49;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198460.2:intron;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89383642;ESP6500_GTC=5239,1193,71;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.1366-10C>G;ESP6500_MAF=10.8721,9.0785,10.2645;ESP6500_TAC=11671,1335	GT:AD:DP:GQ:PL	0/1:18,14:32:99:438,0,554
chr1	89383709	rs41288387	T	C	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.072;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=4.566;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.253;SOR=0.423;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41288387;dbSNPBuildID=127;ANN=C|synonymous_variant|LOW|GBP6|GBP6|transcript|NM_198460.2|protein_coding|9/11|c.1423T>C|p.Leu475Leu|1697/4867|1423/1902|475/633||,C|synonymous_variant|LOW|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|7/9|c.1033T>C|p.Leu345Leu|1356/4526|1033/1512|345/503||;p3_1000G_AA=T|||;p3_1000G_AC=513;p3_1000G_AF=0.102436;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=19583;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.0666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89849268;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=52,4354;ESP6500_AA_AGE=51.6+/-87.1;ESP6500_AA_GTC=0,52,2151;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=-1.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=102;ESP6500_EA_AC=349,8251;ESP6500_EA_AGE=119.2+/-178.6;ESP6500_EA_GTC=1,347,3952;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198460.2:coding-synonymous;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89383709;ESP6500_GTC=1,399,6103;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.1423T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198460.2:p.(L475);ESP6500_MAF=4.0581,1.1802,3.0832;ESP6500_TAC=401,12605	GT:AD:DP:GQ:PL	0/1:23,19:42:99:430,0,570
chr1	89383791	rs928653	G	A	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.692;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.765;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs928653;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|GBP6|GBP6|transcript|NM_198460.2|protein_coding|9/10|c.1468+37G>A||||||,A|intron_variant|MODIFIER|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|7/8|c.1078+37G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4310;p3_1000G_AF=0.860623;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=18423;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.8897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89849350;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4006,400;ESP6500_AA_AGE=789.2+/-415.0;ESP6500_AA_GTC=1825,356,22;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=52;ESP6500_EA_AC=7665,935;ESP6500_EA_AGE=776.5+/-407.7;ESP6500_EA_GTC=3414,837,49;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198460.2:intron;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89383791;ESP6500_GTC=5239,1193,71;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.1468+37G>A;ESP6500_MAF=10.8721,9.0785,10.2645;ESP6500_TAC=11671,1335	GT:AD:DP:GQ:PL	0/1:14,10:24:99:275,0,422
chr1	89384183	rs959460	A	T	689.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.305;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.563;SOR=0.684;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs959460;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_198460.2|protein_coding|10/11|c.1559A>T|p.Asp520Val|1833/4867|1559/1902|520/633||,T|missense_variant|MODERATE|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|8/9|c.1169A>T|p.Asp390Val|1492/4526|1169/1512|390/503||;p3_1000G_AA=A|||;p3_1000G_AC=4310;p3_1000G_AF=0.860623;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=20045;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.8897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89849742;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4006,400;ESP6500_AA_AGE=789.6+/-415.0;ESP6500_AA_GTC=1825,356,22;ESP6500_CDS_SIZES=NM_198460.2:1902;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=86;ESP6500_EA_AC=7665,935;ESP6500_EA_AGE=776.6+/-407.7;ESP6500_EA_GTC=3414,837,49;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198460.2:missense;ESP6500_GL=GBP6;ESP6500_GRCh38_POSITION=1:89384183;ESP6500_GS=152;ESP6500_GTC=5239,1193,71;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_198460.2:c.1559A>T;ESP6500_HGVS_PROTEIN_VAR=NM_198460.2:p.(D520V);ESP6500_MAF=10.8721,9.0785,10.2645;ESP6500_PH=benign:0.011;ESP6500_TAC=11671,1335	GT:AD:DP:GQ:PL	0/1:25,29:54:99:718,0,634
chr1	89385541	rs370789372	G	GTT	11.08	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=1.07;SOR=0.892;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GTT|3_prime_UTR_variant|MODIFIER|GBP6|GBP6|transcript|NM_198460.2|protein_coding|11/11|c.*85_*86dupTT|||||87|INFO_REALIGN_3_PRIME,GTT|3_prime_UTR_variant|MODIFIER|GBP6|GBP6|transcript|NM_001320257.1|protein_coding|9/9|c.*85_*86dupTT|||||87|INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:5,2:7:48:48,0,158
chr1	89422812	rs6428540	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.54;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.891;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6428540;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|GBP1P1|GBP1P1|transcript|NR_003133.2|pseudogene|4/4|n.558-1446A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4318;p3_1000G_AF=0.86222;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=19658;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.8887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89888371;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:255,0,266
chr1	89422971	rs4261099	C	T	783.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.488;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.5;MQRankSum=-0.51;QD=10.45;ReadPosRankSum=1.1;SOR=0.701;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4261099;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|GBP1P1|GBP1P1|transcript|NR_003133.2|pseudogene|4/4|n.558-1287C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4319;p3_1000G_AF=0.86242;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=20568;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.8887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89888530;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,34:75:99:812,0,1061
chr1	89422993	rs4282800	T	A	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.361;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.31;MQRankSum=-0.768;QD=10.09;ReadPosRankSum=1.77;SOR=0.713;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4282800;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|GBP1P1|GBP1P1|transcript|NR_003133.2|pseudogene|4/4|n.558-1265T>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=4317;p3_1000G_AF=0.862021;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=19925;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.8887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89888552;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,31:72:99:755,0,1050
chr1	89423026	rs4415545	C	G	1278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.82;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0.88;MLEAC=1;MLEAF=0.5;MQ=56.06;MQRankSum=-0.664;QD=17.52;ReadPosRankSum=-0.657;SOR=0.568;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4415545;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|GBP1P1|GBP1P1|transcript|NR_003133.2|pseudogene|4/4|n.558-1232C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4320;p3_1000G_AF=0.86262;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=19680;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.8887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89888585;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,34:73:99:0|1:89423026_C_G:1307,0,2016
chr1	89423029	rs4506445	G	T	1278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.353;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.11;MQRankSum=-0.746;QD=17.28;ReadPosRankSum=-0.339;SOR=0.617;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4506445;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|GBP1P1|GBP1P1|transcript|NR_003133.2|pseudogene|4/4|n.558-1229G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4320;p3_1000G_AF=0.86262;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.8887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89888588;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:40,34:74:99:0|1:89423026_C_G:1307,0,2016
chr1	89423897	rs59415285	T	C	696.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.03;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.497;MLEAC=1;MLEAF=0.5;MQ=54.28;MQRankSum=-2.437;QD=14.52;ReadPosRankSum=2.52;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59415285;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|GBP1P1|GBP1P1|transcript|NR_003133.2|pseudogene|4/4|n.558-361T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=519;p3_1000G_AF=0.103634;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=18343;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89889456;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,26:48:99:725,0,605
chr1	89584056	rs3795832	G	A	339.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.049;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=-0.423;SOR=1.234;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795832;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|LRRC8B|LRRC8B|transcript|NM_001134476.1|protein_coding|7/8|c.1406G>A|p.Arg469His|1913/7737|1406/2412|469/803||,A|missense_variant|MODERATE|LRRC8B|LRRC8B|transcript|NM_015350.2|protein_coding|5/6|c.1406G>A|p.Arg469His|1970/7794|1406/2412|469/803||;p3_1000G_AA=G|||;p3_1000G_AC=57;p3_1000G_AF=0.0113818;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=19252;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90049615;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_015350.2:2412,NM_001134476.1:2412;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015350.2:missense,NM_001134476.1:missense;ESP6500_GL=LRRC8B;ESP6500_GRCh38_POSITION=1:89584056;ESP6500_GS=29,29;ESP6500_GTC=0,4,6499;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015350.2:c.1406G>A,NM_001134476.1:c.1406G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015350.2:p.(R469H),NM_001134476.1:p.(R469H);ESP6500_MAF=0.0233,0.0454,0.0308;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=4,13002	GT:AD:DP:GQ:PL	0/1:31,15:46:99:368,0,865
chr1	89592683	rs34096201;rs397739000	G	GT	396.75	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.639;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.056;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=19.84;ReadPosRankSum=0.189;SOR=0.154;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34096201;dbSNPBuildID=137,138;ANN=GT|intron_variant|MODIFIER|LRRC8B|LRRC8B|transcript|NM_001134476.1|protein_coding|7/7|c.2140-75dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|LRRC8B|LRRC8B|transcript|NM_015350.2|protein_coding|5/5|c.2140-75dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.4788;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=18735;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90058242;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:2,18:20:23:434,23,0
chr1	89706276	rs6657969	C	T	1558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6657969;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LRRC8C|LRRC8C|transcript|NM_032270.4|protein_coding|2/2|c.139-6433C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4947;p3_1000G_AF=0.987819;p3_1000G_AFR_AF=0.9576;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=21565;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90171835;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1587,147,0
chr1	89713184	rs474536	A	G	2453.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs474536;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|LRRC8C|LRRC8C|transcript|NM_032270.4|protein_coding|3/3|c.614A>G|p.Asp205Gly|856/7207|614/2412|205/803||;p3_1000G_AA=G|||;p3_1000G_AC=4938;p3_1000G_AF=0.986022;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19341;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90178743;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4203,203;ESP6500_AA_AGE=124.1+/-161.4;ESP6500_AA_GTC=2004,195,4;ESP6500_CDS_SIZES=NM_032270.4:2412;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=60;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032270.4:missense;ESP6500_GL=LRRC8C;ESP6500_GRCh38_POSITION=1:89713184;ESP6500_GS=94;ESP6500_GTC=6301,198,4;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032270.4:c.614A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032270.4:p.(D205G);ESP6500_MAF=0.0349,4.6074,1.5839;ESP6500_PH=benign:0.0;ESP6500_TAC=12800,206	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2482,219,0
chr1	90013021	rs77087157	C	T	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.328;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77087157;dbSNPBuildID=132;ANN=T|sequence_feature|MODERATE|ZNF326|ZNF326|modified-residue:phosphothreonine|NM_182976.3|protein_coding|6/11|c.815-105C>T||||||,T|intron_variant|MODIFIER|ZNF326|ZNF326|transcript|NM_182976.3|protein_coding|6/11|c.815-105C>T||||||,T|intron_variant|MODIFIER|ZNF326|ZNF326|transcript|NM_001320185.1|protein_coding|6/11|c.548-105C>T||||||,T|intron_variant|MODIFIER|ZNF326|ZNF326|transcript|NM_181781.3|protein_coding|4/9|c.197-105C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=37;p3_1000G_AF=0.00738818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19231;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90478580;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:70:129,0,70
chr1	90020853	rs2816881	T	G	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.261;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.149;SOR=1.398;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2816881;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|ZNF326|ZNF326|transcript|NM_182976.3|protein_coding|10/12|c.1236T>G|p.Val412Val|1399/9741|1236/1749|412/582||,G|synonymous_variant|LOW|ZNF326|ZNF326|transcript|NM_001320185.1|protein_coding|10/12|c.969T>G|p.Val323Val|1132/9474|969/1482|323/493||,G|synonymous_variant|LOW|ZNF326|ZNF326|transcript|NM_181781.3|protein_coding|8/10|c.618T>G|p.Val206Val|935/9277|618/1131|206/376||;p3_1000G_AA=G|||;p3_1000G_AC=3471;p3_1000G_AF=0.693091;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=18601;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.5736;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90486412;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2887,1519;ESP6500_AA_AGE=480.8+/-358.9;ESP6500_AA_GTC=946,995,262;ESP6500_CDS_SIZES=NM_182976.2:1749;ESP6500_CG=-1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=141;ESP6500_EA_AC=4828,3772;ESP6500_EA_AGE=534.7+/-382.7;ESP6500_EA_GTC=1338,2152,810;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182976.2:coding-synonymous;ESP6500_GL=ZNF326;ESP6500_GRCh38_POSITION=1:90020853;ESP6500_GTC=2284,3147,1072;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_182976.2:c.1236T>G;ESP6500_HGVS_PROTEIN_VAR=NM_182976.2:p.(V412);ESP6500_MAF=43.8605,34.4757,40.6812;ESP6500_TAC=7715,5291	GT:AD:DP:GQ:PL	0/1:17,15:32:99:428,0,462
chr1	90027467	rs10922744	G	A	828.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.286;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=2.743;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.461;SOR=0.738;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10922744;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|ZNF326|ZNF326|transcript|NM_182976.3|protein_coding|12/12|c.1515G>A|p.Glu505Glu|1678/9741|1515/1749|505/582||,A|synonymous_variant|LOW|ZNF326|ZNF326|transcript|NM_001320185.1|protein_coding|12/12|c.1248G>A|p.Glu416Glu|1411/9474|1248/1482|416/493||,A|synonymous_variant|LOW|ZNF326|ZNF326|transcript|NM_181781.3|protein_coding|10/10|c.897G>A|p.Glu299Glu|1214/9277|897/1131|299/376||;p3_1000G_AA=G|||;p3_1000G_AC=3165;p3_1000G_AF=0.631989;p3_1000G_AFR_AF=0.4667;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=16829;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.5706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90493026;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2181,2225;ESP6500_AA_AGE=583.5+/-385.8;ESP6500_AA_GTC=537,1107,559;ESP6500_CDS_SIZES=NM_182976.2:1749;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=87;ESP6500_EA_AC=4786,3814;ESP6500_EA_AGE=610.0+/-395.6;ESP6500_EA_GTC=1320,2146,834;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182976.2:coding-synonymous;ESP6500_GL=ZNF326;ESP6500_GRCh38_POSITION=1:90027467;ESP6500_GTC=1857,3253,1393;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182976.2:c.1515G>A;ESP6500_HGVS_PROTEIN_VAR=NM_182976.2:p.(E505);ESP6500_MAF=44.3488,49.5007,46.4324;ESP6500_TAC=6967,6039	GT:AD:DP:GQ:PL	0/1:54,39:93:99:857,0,1285
chr1	90982428	rs358691	C	T	772.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.62;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs358691;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ZNF644|ZNF644|transcript|NM_201269.2|protein_coding|1/5|c.-17-58G>A||||||,T|intron_variant|MODIFIER|ZNF644|ZNF644|transcript|NM_016620.3|protein_coding|1/3|c.-39-58G>A||||||,T|intron_variant|MODIFIER|ZNF644|ZNF644|transcript|NM_032186.4|protein_coding|1/3|c.-39-58G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4780;p3_1000G_AF=0.954473;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=14466;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91447985;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1365,19;ESP6500_AA_GTC=673,19,0;ESP6500_CDS_SIZES=NM_201269.2:3984,NM_032186.4:318,NM_016620.3:318;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=47;ESP6500_EA_AC=2850,322;ESP6500_EA_GTC=1281,288,17;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201269.2:intron,NM_032186.4:intron,NM_016620.3:intron;ESP6500_GL=ZNF644;ESP6500_GRCh38_POSITION=1:90982428;ESP6500_GTC=1954,307,17;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201269.2:c.-75G>A,NM_032186.4:c.-97G>A,NM_016620.3:c.-97G>A;ESP6500_MAF=10.1513,1.3728,7.4846;ESP6500_TAC=4215,341	GT:AD:DP:GQ:PL	1/1:0,27:27:81:801,81,0
chr1	91262496	rs585898	G	A	431.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs585898;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|37/39|c.4071C>T|p.Ala1357Ala|4170/4931|4071/4308|1357/1435||;p3_1000G_AA=G|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15647;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91728053;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4393,13;ESP6500_AA_AGE=824.5+/-416.5;ESP6500_AA_GTC=2190,13,0;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=2.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=95;ESP6500_EA_AC=8596,0;ESP6500_EA_GTC=4298,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:coding-synonymous;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91262496;ESP6500_GTC=6488,13,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.4071C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001017975.3:p.(A1357);ESP6500_MAF=0.0,0.2951,0.1;ESP6500_TAC=12989,13	GT:AD:DP:GQ:PL	1/1:0,14:14:42:460,42,0
chr1	91266199	rs75935068	T	C	560.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75935068;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|35/38|c.3884-92A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=566;p3_1000G_AF=0.113019;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=21525;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.0736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91731756;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:589,54,0
chr1	91273651	rs281964	C	T	658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs281964;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|34/38|c.3772+61G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=14771;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91739208;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:687,66,0
chr1	91273857	rs281963	G	A	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs281963;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|33/38|c.3669-42C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17573;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91739414;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4367,13;ESP6500_AA_GTC=2177,13,0;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=27;ESP6500_EA_AC=8568,0;ESP6500_EA_GTC=4284,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:intron;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91273857;ESP6500_GTC=6461,13,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.3669-42C>T;ESP6500_MAF=0.0,0.2968,0.1004;ESP6500_TAC=12935,13	GT:AD:DP:GQ:PL	1/1:0,15:15:45:463,45,0
chr1	91273900	rs79093507	A	C	380.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.62;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs79093507;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|33/38|c.3669-85T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=609;p3_1000G_AF=0.121605;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=18652;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91739457;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:409,33,0
chr1	91276862	rs141161527	AATT	A	277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs141161527;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|31/38|c.3472+117_3472+119delAAT||||||;p3_1000G_AC=385;p3_1000G_AF=0.076877;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=14701;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.0726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91742419;p3_1000G_GRCH37_REF=AATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:315,21,0
chr1	91315747	rs281991	T	C	246.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.42;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs281991;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|28/38|c.3140+68A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16584;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91781304;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:26:275,26,0
chr1	91316019	rs12568483	C	A	988.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12568483;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|27/38|c.2983-47G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=525;p3_1000G_AF=0.104832;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=15520;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.0726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91781576;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=459,3931;ESP6500_AA_GTC=21,417,1757;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=23;ESP6500_EA_AC=663,7907;ESP6500_EA_GTC=27,609,3649;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:intron;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91316019;ESP6500_GTC=48,1026,5406;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.2983-47G>T;ESP6500_MAF=7.7363,10.4556,8.6574;ESP6500_TAC=1122,11838	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1017,96,0
chr1	91316454	rs74843031	G	A	319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.65;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs74843031;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|26/39|c.2835C>T|p.Ile945Ile|2934/4931|2835/4308|945/1435||;p3_1000G_AA=G|||;p3_1000G_AC=529;p3_1000G_AF=0.105631;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=12740;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91782011;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=470,3934;ESP6500_AA_AGE=219.7+/-237.4;ESP6500_AA_GTC=20,430,1752;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=87;ESP6500_EA_AC=671,7909;ESP6500_EA_AGE=167.8+/-219.5;ESP6500_EA_GTC=28,615,3647;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:coding-synonymous;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91316454;ESP6500_GTC=48,1045,5399;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.2835C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001017975.3:p.(I945);ESP6500_MAF=7.8205,10.6721,8.7877;ESP6500_TAC=1141,11843	GT:AD:DP:GQ:PL	1/1:0,12:12:36:348,36,0
chr1	91319330	rs10493845	G	A	580.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10493845;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|24/39|c.2643C>T|p.Thr881Thr|2742/4931|2643/4308|881/1435||;p3_1000G_AA=G|||;p3_1000G_AC=1184;p3_1000G_AF=0.236422;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=16268;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.3072;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91784887;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1179,3227;ESP6500_AA_AGE=413.0+/-336.3;ESP6500_AA_GTC=153,873,1177;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=110;ESP6500_EA_AC=2875,5725;ESP6500_EA_AGE=451.0+/-362.6;ESP6500_EA_GTC=479,1917,1904;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:coding-synonymous;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91319330;ESP6500_GTC=632,2790,3081;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.2643C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001017975.3:p.(T881);ESP6500_MAF=33.4302,26.759,31.1702;ESP6500_TAC=4054,8952	GT:AD:DP:GQ:PL	1/1:0,20:20:60:609,60,0
chr1	91328320	rs281972	T	C	487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs281972;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|20/38|c.2336-3554A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17095;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91793877;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:516,42,0
chr1	91329774	rs281974	A	G	920.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.39;QD=27.22;SOR=3.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs281974;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|20/38|c.2336-5008T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21135;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91795331;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:949,75,0
chr1	91375227	rs282037	T	C	868.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs282037;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|13/38|c.1685+131A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17236;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91840784;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:897,75,0
chr1	91375744	rs282036	T	C	375.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs282036;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|11/38|c.1396-17A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17219;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91841301;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3607,11;ESP6500_AA_GTC=1798,11,0;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=49;ESP6500_EA_AC=8146,0;ESP6500_EA_GTC=4073,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:intron;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91375744;ESP6500_GTC=5871,11,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.1396-17A>G;ESP6500_MAF=0.0,0.304,0.0935;ESP6500_TAC=11753,11	GT:AD:DP:GQ:PL	1/1:0,11:11:33:404,33,0
chr1	91379258	rs4658219	T	C	323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4658219;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|8/38|c.1007-44A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=544;p3_1000G_AF=0.108626;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=16016;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.0765;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91844815;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=449,3907;ESP6500_AA_GTC=21,407,1750;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=21;ESP6500_EA_AC=657,7885;ESP6500_EA_GTC=29,599,3643;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:intron;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91379258;ESP6500_GTC=50,1006,5393;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.1007-44A>G;ESP6500_MAF=7.6914,10.3076,8.575;ESP6500_TAC=1106,11792	GT:AD:DP:GQ:PL	1/1:0,10:10:30:352,30,0
chr1	91380817	rs282033	C	A	177.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.64;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs282033;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|7/38|c.873+95G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18089;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91846374;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:206,18,0
chr1	91385269	rs147504208	C	CA	20.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.37;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs147504208;dbSNPBuildID=134;ANN=CA|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|5/38|c.755-36dupT||||||;p3_1000G_AA=AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion;p3_1000G_AC=552;p3_1000G_AF=0.110224;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=12699;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91850826;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=INDEL;ESP6500_AA_AC=442,3552;ESP6500_AA_GTC=55,332,1610;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=14;ESP6500_EA_AC=656,7404;ESP6500_EA_GTC=46,564,3420;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:intron;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91385269;ESP6500_GTC=101,896,5030;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.755-36_755-35insT;ESP6500_MAF=8.139,11.0666,9.109;ESP6500_TAC=1098,10956	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0
chr1	91385696	rs282026	T	C	1614.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs282026;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|5/39|c.633A>G|p.Gln211Gln|732/4931|633/4308|211/1435||;p3_1000G_AA=C|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17146;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91851253;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4393,13;ESP6500_AA_AGE=20.2+/-43.8;ESP6500_AA_GTC=2190,13,0;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=94;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017975.3:coding-synonymous;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91385696;ESP6500_GTC=6490,13,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.633A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001017975.3:p.(Q211);ESP6500_MAF=0.0,0.2951,0.1;ESP6500_TAC=12993,13	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1643,156,0
chr1	91394238	rs282009	T	C	1746.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.61;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs282009;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|4/39|c.349A>G|p.Ile117Val|448/4931|349/4308|117/1435||;p3_1000G_AA=C|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15141;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91859795;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4394,12;ESP6500_AA_AGE=19.1+/-41.9;ESP6500_AA_GTC=2191,12,0;ESP6500_CDS_SIZES=NM_001017975.3:4308;ESP6500_CG=1.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=103;ESP6500_EA_AC=8598,0;ESP6500_EA_GTC=4299,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001017975.3:missense;ESP6500_GL=HFM1;ESP6500_GRCh38_POSITION=1:91394238;ESP6500_GS=29;ESP6500_GTC=6490,12,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001017975.3:c.349A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001017975.3:p.(I117V);ESP6500_MAF=0.0,0.2724,0.0923;ESP6500_PH=benign:0.0;ESP6500_TAC=12992,12	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1775,177,0
chr1	91401194	rs4658222	C	G	56.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4658222;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|HFM1|HFM1|transcript|NM_001017975.4|protein_coding|1/38|c.-27-85G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=396;p3_1000G_AF=0.0790735;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=16726;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.0726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91866751;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:84,6,0
chr1	91501897	rs13447460	A	G	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.48;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=1.28;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13447460;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134419.1|protein_coding|2/11|c.115+66A>G||||||,G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_003503.3|protein_coding|2/11|c.115+66A>G||||||,G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134420.1|protein_coding|2/11|c.115+66A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=160;p3_1000G_AF=0.0319489;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18261;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91967454;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:64:64,0,146
chr1	91508000	rs553606	T	G	309.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs553606;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134419.1|protein_coding|3/11|c.199+63T>G||||||,G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_003503.3|protein_coding|3/11|c.199+63T>G||||||,G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134420.1|protein_coding|3/11|c.199+63T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=12762;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91973557;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:338,24,0
chr1	91514890	rs483532	A	G	2248.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=1.134;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs483532;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|CDC7|CDC7|transcript|NM_001134419.1|protein_coding|9/12|c.990A>G|p.Thr330Thr|1121/3185|990/1725|330/574||,G|synonymous_variant|LOW|CDC7|CDC7|transcript|NM_003503.3|protein_coding|9/12|c.990A>G|p.Thr330Thr|1155/3219|990/1725|330/574||,G|synonymous_variant|LOW|CDC7|CDC7|transcript|NM_001134420.1|protein_coding|9/12|c.990A>G|p.Thr330Thr|1249/3313|990/1725|330/574||;p3_1000G_AA=A|||;p3_1000G_AC=3851;p3_1000G_AF=0.76897;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=18509;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.7942;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91980447;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3399,1007;ESP6500_AA_AGE=729.8+/-410.1;ESP6500_AA_GTC=1298,803,102;ESP6500_CDS_SIZES=NM_003503.3:1725,NM_001134420.1:1725,NM_001134419.1:1725;ESP6500_CG=-3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=97;ESP6500_EA_AC=6735,1865;ESP6500_EA_AGE=729.3+/-406.7;ESP6500_EA_GTC=2656,1423,221;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003503.3:coding-synonymous,NM_001134420.1:coding-synonymous,NM_001134419.1:coding-synonymous;ESP6500_GL=CDC7;ESP6500_GRCh38_POSITION=1:91514890;ESP6500_GTC=3954,2226,323;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003503.3:c.990A>G,NM_001134420.1:c.990A>G,NM_001134419.1:c.990A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003503.3:p.(T330),NM_001134420.1:p.(T330),NM_001134419.1:p.(T330);ESP6500_MAF=21.686,22.8552,22.0821;ESP6500_TAC=10134,2872	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2277,222,0
chr1	91515092	rs10874758	G	A	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.485;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.541;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10874758;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134419.1|protein_coding|9/11|c.1097+95G>A||||||,A|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_003503.3|protein_coding|9/11|c.1097+95G>A||||||,A|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134420.1|protein_coding|9/11|c.1097+95G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1703;p3_1000G_AF=0.340056;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=19140;p3_1000G_EAS_AF=0.498;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91980649;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:173,0,405
chr1	91523894	rs56282166;rs68022025;rs778734119;rs869049350;rs869114846;rs869223470;rs869250693	CTGTGTG	C	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs68022025,rs67160927,rs56282166,rs10533562,rs67234612,rs34774833;dbSNPBuildID=132,144,147,147,147,147,129;ANN=C|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134419.1|protein_coding|11/11|c.1331-121_1331-116delGTGTGT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_003503.3|protein_coding|11/11|c.1331-121_1331-116delGTGTGT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134420.1|protein_coding|11/11|c.1331-121_1331-116delGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0
chr1	91524015	rs488126	T	G	607.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs488126;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134419.1|protein_coding|11/11|c.1331-26T>G||||||,G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_003503.3|protein_coding|11/11|c.1331-26T>G||||||,G|intron_variant|MODIFIER|CDC7|CDC7|transcript|NM_001134420.1|protein_coding|11/11|c.1331-26T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4950;p3_1000G_AF=0.988419;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18583;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91989572;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4215,133;ESP6500_AA_GTC=2043,129,2;ESP6500_CDS_SIZES=NM_003503.3:1725,NM_001134420.1:1725,NM_001134419.1:1725;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=24;ESP6500_EA_AC=8559,9;ESP6500_EA_GTC=4275,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003503.3:intron,NM_001134420.1:intron,NM_001134419.1:intron;ESP6500_GL=CDC7;ESP6500_GRCh38_POSITION=1:91524015;ESP6500_GTC=6318,138,2;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003503.3:c.1331-26T>G,NM_001134420.1:c.1331-26T>G,NM_001134419.1:c.1331-26T>G;ESP6500_MAF=0.105,3.0589,1.0994;ESP6500_TAC=12774,142	GT:AD:DP:GQ:PL	1/1:0,18:18:54:636,54,0
chr1	91524150	rs1046622	A	G	930.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.58;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.06;SOR=0.619;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1046622;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|CDC7|CDC7|transcript|NM_001134419.1|protein_coding|12/12|c.1440A>G|p.Gln480Gln|1571/3185|1440/1725|480/574||,G|synonymous_variant|LOW|CDC7|CDC7|transcript|NM_003503.3|protein_coding|12/12|c.1440A>G|p.Gln480Gln|1605/3219|1440/1725|480/574||,G|synonymous_variant|LOW|CDC7|CDC7|transcript|NM_001134420.1|protein_coding|12/12|c.1440A>G|p.Gln480Gln|1699/3313|1440/1725|480/574||;p3_1000G_AA=A|||;p3_1000G_AC=79;p3_1000G_AF=0.0157748;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17041;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0.0139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91989707;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=35,4371;ESP6500_AA_AGE=38.4+/-70.7;ESP6500_AA_GTC=0,35,2168;ESP6500_CDS_SIZES=NM_003503.3:1725,NM_001134420.1:1725,NM_001134419.1:1725;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=116;ESP6500_EA_AC=112,8488;ESP6500_EA_AGE=57.5+/-118.9;ESP6500_EA_GTC=2,108,4190;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003503.3:coding-synonymous,NM_001134420.1:coding-synonymous,NM_001134419.1:coding-synonymous;ESP6500_GL=CDC7;ESP6500_GRCh38_POSITION=1:91524150;ESP6500_GTC=2,143,6358;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003503.3:c.1440A>G,NM_001134420.1:c.1440A>G,NM_001134419.1:c.1440A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003503.3:p.(Q480),NM_001134420.1:p.(Q480),NM_001134419.1:p.(Q480);ESP6500_MAF=1.3023,0.7944,1.1302;ESP6500_TAC=147,12859	GT:AD:DP:GQ:PL	0/1:30,38:68:99:959,0,794
chr1	91683539	rs1805116	C	T	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.65;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.869;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805116;dbSNPBuildID=89;ANN=T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|17/17|c.*200G>A|||||200|,T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|17/17|c.*200G>A|||||200|,T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|18/18|c.*200G>A|||||200|,T|non_coding_transcript_exon_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|18/18|n.3368G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=420;p3_1000G_AF=0.0838658;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=17646;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92149096;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:313,0,316
chr1	91683582	rs1805115	C	T	433.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.259;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.365;SOR=0.276;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805115;dbSNPBuildID=89;ANN=T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|17/17|c.*157G>A|||||157|,T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|17/17|c.*157G>A|||||157|,T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|18/18|c.*157G>A|||||157|,T|non_coding_transcript_exon_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|18/18|n.3325G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=420;p3_1000G_AF=0.0838658;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=16779;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92149139;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,18:35:99:462,0,435
chr1	91683720	rs1131243	C	T	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.904;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=1.36;SOR=1.22;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1131243;dbSNPBuildID=111;ANN=T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|17/17|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|17/17|c.*19G>A|||||19|,T|3_prime_UTR_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|18/18|c.*19G>A|||||19|,T|non_coding_transcript_exon_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|18/18|n.3187G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=507;p3_1000G_AF=0.101238;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=12182;p3_1000G_EAS_AF=0.1062;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92149277;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=405,3975;ESP6500_AA_GTC=18,369,1803;ESP6500_CDS_SIZES=NM_003243.4:2556,NM_001195684.1:2553,NM_001195683.1:2553;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=14;ESP6500_EA_AC=1455,7087;ESP6500_EA_GTC=131,1193,2947;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003243.4:utr-3,NM_001195684.1:utr-3,NM_001195683.1:utr-3;ESP6500_GL=TGFBR3;ESP6500_GRCh38_POSITION=1:91683720;ESP6500_GTC=149,1562,4750;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003243.4:c.*19G>A,NM_001195684.1:c.*19G>A,NM_001195683.1:c.*19G>A;ESP6500_MAF=17.0335,9.2466,14.3941;ESP6500_TAC=1860,11062	GT:AD:DP:GQ:PL	0/1:15,21:36:99:474,0,341
chr1	91708703	rs284878	A	G	1431.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=0.735;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs284878;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|14/17|c.2247T>C|p.Thr749Thr|2762/6467|2247/2556|749/851||,G|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|14/17|c.2244T>C|p.Thr748Thr|2759/6464|2244/2553|748/850||,G|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|15/18|c.2244T>C|p.Thr748Thr|2595/6300|2244/2553|748/850||,G|non_coding_transcript_exon_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|15/18|n.2859T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4541;p3_1000G_AF=0.906749;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=19431;p3_1000G_EAS_AF=0.7351;p3_1000G_EUR_AF=0.9433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92174260;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4121,285;ESP6500_AA_AGE=157.0+/-190.0;ESP6500_AA_GTC=1930,261,12;ESP6500_CDS_SIZES=NM_003243.4:2556,NM_001195684.1:2553,NM_001195683.1:2553;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=110;ESP6500_EA_AC=8097,503;ESP6500_EA_AGE=144.2+/-200.1;ESP6500_EA_GTC=3809,479,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003243.4:coding-synonymous,NM_001195684.1:coding-synonymous,NM_001195683.1:coding-synonymous;ESP6500_GL=TGFBR3;ESP6500_GRCh38_POSITION=1:91708703;ESP6500_GTC=5739,740,24;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003243.4:c.2247T>C,NM_001195684.1:c.2244T>C,NM_001195683.1:c.2244T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003243.4:p.(T749),NM_001195684.1:p.(T748),NM_001195683.1:p.(T748);ESP6500_MAF=5.8488,6.4685,6.0587;ESP6500_TAC=12218,788	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1460,141,0
chr1	91708858	rs2038931	G	A	19.81	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.2;ReadPosRankSum=-0.967;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2038931;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|13/16|c.2167-75C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|13/16|c.2164-75C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|14/17|n.2779-75C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|14/17|c.2164-75C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1025;p3_1000G_AF=0.204673;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=19412;p3_1000G_EAS_AF=0.3671;p3_1000G_EUR_AF=0.1024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92174415;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:48:48,0,233
chr1	91720100	rs1805112	C	T	776.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.66;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=2.052;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-2.281;SOR=0.468;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805112;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|9/17|c.1206G>A|p.Pro402Pro|1721/6467|1206/2556|402/851||,T|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|9/17|c.1203G>A|p.Pro401Pro|1718/6464|1203/2553|401/850||,T|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|10/18|c.1203G>A|p.Pro401Pro|1554/6300|1203/2553|401/850||,T|non_coding_transcript_exon_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|10/18|n.1818G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2034;p3_1000G_AF=0.40615;p3_1000G_AFR_AF=0.2814;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=18343;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92185657;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1398,3008;ESP6500_AA_GTC=213,972,1018;ESP6500_CDS_SIZES=NM_003243.4:2556,NM_001195684.1:2553,NM_001195683.1:2553;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=63;ESP6500_EA_AC=3566,5034;ESP6500_EA_GTC=754,2058,1488;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003243.4:coding-synonymous,NM_001195684.1:coding-synonymous,NM_001195683.1:coding-synonymous;ESP6500_GL=TGFBR3;ESP6500_GRCh38_POSITION=1:91720100;ESP6500_GTC=967,3030,2506;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003243.4:c.1206G>A,NM_001195684.1:c.1203G>A,NM_001195683.1:c.1203G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003243.4:p.(P402),NM_001195684.1:p.(P401),NM_001195683.1:p.(P401);ESP6500_MAF=41.4651,31.7295,38.167;ESP6500_TAC=4964,8042	GT:AD:DP:GQ:PL	0/1:35,30:65:99:805,0,1123
chr1	91730044	rs10783002	G	A	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.101;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=1.4;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10783002;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|5/16|c.569-71C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|5/16|c.569-71C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|6/17|n.1181-71C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|6/17|c.569-71C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2133;p3_1000G_AF=0.425919;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=20625;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92195601;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:118,0,311
chr1	91758510	rs3738441	C	T	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.782;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=1.11;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738441;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|4/16|c.384+103G>A||||||,T|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|4/16|c.384+103G>A||||||,T|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|5/17|n.996+103G>A||||||,T|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|5/17|c.384+103G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1813;p3_1000G_AF=0.362021;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=23194;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92224067;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:211,0,294
chr1	91758790	rs11165441	G	A	1087.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.361;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.5;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11165441;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|3/16|c.247-40C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|3/16|c.247-40C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|4/17|n.859-40C>T||||||,A|intron_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|4/17|c.247-40C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=771;p3_1000G_AF=0.153954;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=18275;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.1352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92224347;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=638,3768;ESP6500_AA_AGE=274.6+/-272.0;ESP6500_AA_GTC=55,528,1620;ESP6500_CDS_SIZES=NM_003243.4:2556,NM_001195684.1:2553,NM_001195683.1:2553;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=65;ESP6500_EA_AC=1341,7259;ESP6500_EA_AGE=263.1+/-284.8;ESP6500_EA_GTC=92,1157,3051;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003243.4:intron,NM_001195684.1:intron,NM_001195683.1:intron;ESP6500_GL=TGFBR3;ESP6500_GRCh38_POSITION=1:91758790;ESP6500_GTC=147,1685,4671;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003243.4:c.247-40C>T,NM_001195684.1:c.247-40C>T,NM_001195683.1:c.247-40C>T;ESP6500_MAF=15.593,14.4803,15.2161;ESP6500_TAC=1979,11027	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1116,0,976
chr1	91797317	rs2810904	T	C	581.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.183;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=8.348;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.08;SOR=0.145;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374433917,rs2810904;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_003243.4|protein_coding|3/17|c.216A>G|p.Ala72Ala|731/6467|216/2556|72/851||,C|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_001195683.1|protein_coding|3/17|c.216A>G|p.Ala72Ala|731/6464|216/2553|72/850||,C|synonymous_variant|LOW|TGFBR3|TGFBR3|transcript|NM_001195684.1|protein_coding|4/18|c.216A>G|p.Ala72Ala|567/6300|216/2553|72/850||,C|non_coding_transcript_exon_variant|MODIFIER|TGFBR3|TGFBR3|transcript|NR_036634.1|pseudogene|4/18|n.828A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3582;p3_1000G_AF=0.715256;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=17523;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92262874;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3308,1098;ESP6500_AA_AGE=390.3+/-327.6;ESP6500_AA_GTC=1236,836,131;ESP6500_CDS_SIZES=NM_003243.4:2556,NM_001195684.1:2553,NM_001195683.1:2553;ESP6500_CG=-8.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=134;ESP6500_EA_AC=5518,3082;ESP6500_EA_AGE=460.9+/-365.3;ESP6500_EA_GTC=1760,1998,542;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003243.4:coding-synonymous,NM_001195684.1:coding-synonymous,NM_001195683.1:coding-synonymous;ESP6500_GL=TGFBR3;ESP6500_GRCh38_POSITION=1:91797317;ESP6500_GTC=2996,2834,673;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003243.4:c.216A>G,NM_001195684.1:c.216A>G,NM_001195683.1:c.216A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003243.4:p.(A72),NM_001195684.1:p.(A72),NM_001195683.1:p.(A72);ESP6500_MAF=35.8372,24.9206,32.139;ESP6500_TAC=8826,4180	GT:AD:DP:GQ:PL	0/1:24,27:51:99:610,0,644
chr1	91962938	rs10783071	C	A	922.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10783071;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242806.2|protein_coding|2/19|c.184C>A|p.Gln62Lys|533/3359|184/2856|62/951||,A|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242805.2|protein_coding|3/20|c.184C>A|p.Gln62Lys|602/3416|184/2844|62/947||,A|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242807.2|protein_coding|2/18|c.184C>A|p.Gln62Lys|339/3015|184/2706|62/901||,A|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242808.2|protein_coding|2/18|c.184C>A|p.Gln62Lys|533/3209|184/2706|62/901||,A|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_207189.3|protein_coding|2/19|c.184C>A|p.Gln62Lys|533/3347|184/2844|62/947||,A|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001726.4|protein_coding|2/19|c.184C>A|p.Gln62Lys|328/3142|184/2844|62/947||,A|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242810.2|protein_coding|2/18|c.-27-1689C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3786;p3_1000G_AF=0.75599;p3_1000G_AFR_AF=0.6551;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=17393;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.9235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92428495;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3079,1327;ESP6500_AA_AGE=441.4+/-346.4;ESP6500_AA_GTC=1070,939,194;ESP6500_CDS_SIZES=NM_207189.2:2844,NM_001726.3:2844,NM_001242810.1:2625,NM_001242808.1:2706,NM_001242807.1:2706,NM_001242806.1:2856,NM_001242805.1:2844;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=98;ESP6500_EA_AC=8096,504;ESP6500_EA_AGE=143.9+/-199.8;ESP6500_EA_GTC=3815,466,19;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207189.2:missense,NM_001726.3:missense,NM_001242810.1:intron,NM_001242808.1:missense,NM_001242807.1:missense,NM_001242806.1:missense,NM_001242805.1:missense;ESP6500_GL=BRDT;ESP6500_GRCh38_POSITION=1:91962938;ESP6500_GS=53,53,.,53,53,53,53;ESP6500_GTC=4885,1405,213;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_207189.2:c.184C>A,NM_001726.3:c.184C>A,NM_001242810.1:c.-1716C>A,NM_001242808.1:c.184C>A,NM_001242807.1:c.184C>A,NM_001242806.1:c.184C>A,NM_001242805.1:c.184C>A;ESP6500_HGVS_PROTEIN_VAR=NM_207189.2:p.(Q62K),NM_001726.3:p.(Q62K),.,NM_001242808.1:p.(Q62K),NM_001242807.1:p.(Q62K),NM_001242806.1:p.(Q62K),NM_001242805.1:p.(Q62K);ESP6500_MAF=5.8605,30.118,14.0781;ESP6500_PH=benign:0.0,benign:0.0,.,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=11175,1831	GT:AD:DP:GQ:PL	1/1:0,30:30:90:951,90,0
chr1	91964783	rs199899960	A	T	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.948;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199899960;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242806.2|protein_coding|3/18|c.330+19A>T||||||,T|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242805.2|protein_coding|4/19|c.330+19A>T||||||,T|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242807.2|protein_coding|2/17|c.192+1837A>T||||||,T|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242808.2|protein_coding|2/17|c.192+1837A>T||||||,T|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242810.2|protein_coding|3/18|c.111+19A>T||||||,T|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_207189.3|protein_coding|3/18|c.330+19A>T||||||,T|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001726.4|protein_coding|3/18|c.330+19A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15769;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92430340;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:232,0,206
chr1	91980555	rs11165911	T	C	137.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11165911;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242806.2|protein_coding|8/18|c.1300-88T>C||||||,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242805.2|protein_coding|9/19|c.1288-88T>C||||||,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242807.2|protein_coding|7/17|c.1150-88T>C||||||,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242808.2|protein_coding|7/17|c.1150-88T>C||||||,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242810.2|protein_coding|8/18|c.1069-88T>C||||||,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_207189.3|protein_coding|8/18|c.1288-88T>C||||||,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001726.4|protein_coding|8/18|c.1288-88T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3584;p3_1000G_AF=0.715655;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=16367;p3_1000G_EAS_AF=0.6111;p3_1000G_EUR_AF=0.8459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92446112;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:165,12,0
chr1	91980841	rs2303967	T	A	1830.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=1.197;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2303967;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242806.2|protein_coding|9/18|c.1472+26T>A||||||,A|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242805.2|protein_coding|10/19|c.1460+26T>A||||||,A|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242807.2|protein_coding|8/17|c.1322+26T>A||||||,A|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242808.2|protein_coding|8/17|c.1322+26T>A||||||,A|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242810.2|protein_coding|9/18|c.1241+26T>A||||||,A|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_207189.3|protein_coding|9/18|c.1460+26T>A||||||,A|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001726.4|protein_coding|9/18|c.1460+26T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3313;p3_1000G_AF=0.661542;p3_1000G_AFR_AF=0.497;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=18475;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.7952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92446398;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7536;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2395,2009;ESP6500_AA_AGE=594.6+/-388.3;ESP6500_AA_GTC=645,1105,452;ESP6500_CDS_SIZES=NM_207189.2:2844,NM_001726.3:2844,NM_001242810.1:2625,NM_001242808.1:2706,NM_001242807.1:2706,NM_001242806.1:2856,NM_001242805.1:2844;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=6752,1844;ESP6500_EA_AGE=719.8+/-406.3;ESP6500_EA_GTC=2648,1456,194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207189.2:intron,NM_001726.3:intron,NM_001242810.1:intron,NM_001242808.1:intron,NM_001242807.1:intron,NM_001242806.1:intron,NM_001242805.1:intron;ESP6500_GL=BRDT;ESP6500_GRCh38_POSITION=1:91980841;ESP6500_GTC=3293,2561,646;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_207189.2:c.1460+26T>A,NM_001726.3:c.1460+26T>A,NM_001242810.1:c.1241+26T>A,NM_001242808.1:c.1322+26T>A,NM_001242807.1:c.1322+26T>A,NM_001242806.1:c.1472+26T>A,NM_001242805.1:c.1460+26T>A;ESP6500_MAF=21.4518,45.6176,29.6385;ESP6500_TAC=9147,3853	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1859,183,0
chr1	91981447	rs10875104	A	G	927.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10875104;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242806.2|protein_coding|11/18|c.1876+66A>G||||||,G|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242805.2|protein_coding|12/19|c.1864+66A>G||||||,G|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242807.2|protein_coding|10/17|c.1726+66A>G||||||,G|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242808.2|protein_coding|10/17|c.1726+66A>G||||||,G|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242810.2|protein_coding|11/18|c.1645+66A>G||||||,G|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_207189.3|protein_coding|11/18|c.1864+66A>G||||||,G|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001726.4|protein_coding|11/18|c.1864+66A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3584;p3_1000G_AF=0.715655;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=17805;p3_1000G_EAS_AF=0.6111;p3_1000G_EUR_AF=0.8459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92447004;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:956,84,0
chr1	91992286	rs10747493	C	T	415.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10747493;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242806.2|protein_coding|14/19|c.2099C>T|p.Pro700Leu|2448/3359|2099/2856|700/951||,T|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242805.2|protein_coding|15/20|c.2087C>T|p.Pro696Leu|2505/3416|2087/2844|696/947||,T|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242807.2|protein_coding|13/18|c.1949C>T|p.Pro650Leu|2104/3015|1949/2706|650/901||,T|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242808.2|protein_coding|13/18|c.1949C>T|p.Pro650Leu|2298/3209|1949/2706|650/901||,T|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001242810.2|protein_coding|14/19|c.1868C>T|p.Pro623Leu|2792/3703|1868/2625|623/874||,T|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_207189.3|protein_coding|14/19|c.2087C>T|p.Pro696Leu|2436/3347|2087/2844|696/947||,T|missense_variant|MODERATE|BRDT|BRDT|transcript|NM_001726.4|protein_coding|14/19|c.2087C>T|p.Pro696Leu|2231/3142|2087/2844|696/947||;p3_1000G_AA=T|||;p3_1000G_AC=3556;p3_1000G_AF=0.710064;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=13823;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.8429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92457843;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2765,1641;ESP6500_AA_AGE=463.0+/-353.4;ESP6500_AA_GTC=870,1025,308;ESP6500_CDS_SIZES=NM_207189.2:2844,NM_001726.3:2844,NM_001242810.1:2625,NM_001242808.1:2706,NM_001242807.1:2706,NM_001242806.1:2856,NM_001242805.1:2844;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=29;ESP6500_EA_AC=7347,1241;ESP6500_EA_AGE=236.2+/-268.5;ESP6500_EA_GTC=3142,1063,89;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207189.2:missense,NM_001726.3:missense,NM_001242810.1:missense,NM_001242808.1:missense,NM_001242807.1:missense,NM_001242806.1:missense,NM_001242805.1:missense;ESP6500_GL=BRDT;ESP6500_GRCh38_POSITION=1:91992286;ESP6500_GS=98,98,98,98,98,98,98;ESP6500_GTC=4012,2088,397;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207189.2:c.2087C>T,NM_001726.3:c.2087C>T,NM_001242810.1:c.1868C>T,NM_001242808.1:c.1949C>T,NM_001242807.1:c.1949C>T,NM_001242806.1:c.2099C>T,NM_001242805.1:c.2087C>T;ESP6500_HGVS_PROTEIN_VAR=NM_207189.2:p.(P696L),NM_001726.3:p.(P696L),NM_001242810.1:p.(P623L),NM_001242808.1:p.(P650L),NM_001242807.1:p.(P650L),NM_001242806.1:p.(P700L),NM_001242805.1:p.(P696L);ESP6500_MAF=14.4504,37.2447,22.1795;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10112,2882	GT:AD:DP:GQ:PL	1/1:0,15:15:45:444,45,0
chr1	91992412	rs540162025;rs55996004;rs781059319;rs796303961	CA	C	14.88	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.253;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=1.65;SOR=2.833;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs55996004;dbSNPBuildID=130,142,144,146;ANN=C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242806.2|protein_coding|14/18|c.2127+116delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242805.2|protein_coding|15/19|c.2115+116delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242807.2|protein_coding|13/17|c.1977+116delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242808.2|protein_coding|13/17|c.1977+116delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001242810.2|protein_coding|14/18|c.1896+116delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_207189.3|protein_coding|14/18|c.2115+116delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BRDT|BRDT|transcript|NM_001726.4|protein_coding|14/18|c.2115+116delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2853;p3_1000G_AF=0.569688;p3_1000G_AFR_AF=0.4909;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=12778;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.6759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92457969;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,3:5:29:52,0,29
chr1	92075084	rs192269043	C	T	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.176;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=1.79;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs192269043;dbSNPBuildID=135;ANN=T|missense_variant|MODERATE|SETSIP|SETSIP|transcript|NM_001287737.1|protein_coding|1/1|c.358G>A|p.Gly120Arg|389/1037|358/909|120/302||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20249;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92540641;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:214,0,292
chr1	92102706	rs527412	A	G	89.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs527412;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|BTBD8|BTBD8|transcript|NM_183242.3|protein_coding|3/8|c.544+37A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3898;p3_1000G_AF=0.778355;p3_1000G_AFR_AF=0.7814;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=14760;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92568263;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7812;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3377,1025;ESP6500_AA_GTC=1296,785,120;ESP6500_CDS_SIZES=NM_183242.3:1137;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=25;ESP6500_EA_AC=5695,2895;ESP6500_EA_GTC=1889,1917,489;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183242.3:intron;ESP6500_GL=BTBD8;ESP6500_GRCh38_POSITION=1:92102706;ESP6500_GTC=3185,2702,609;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_183242.3:c.544+37A>G;ESP6500_MAF=33.702,23.2849,30.1724;ESP6500_TAC=9072,3920	GT:AD:DP:GQ:PL	1/1:0,3:3:9:117,9,0
chr1	92180464	rs1483022	G	A	1113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1483022;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|KIAA1107|KIAA1107|transcript|NM_015237.3|protein_coding|6/7|c.1242G>A|p.Lys414Lys|1346/4339|1242/3840|414/1279||;p3_1000G_AA=G|||;p3_1000G_AC=3560;p3_1000G_AF=0.710863;p3_1000G_AFR_AF=0.6059;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=19115;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.6223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92646021;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1142,111,0
chr1	92181666	rs560389	A	G	1105.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=1.143;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs560389;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|KIAA1107|KIAA1107|transcript|NM_015237.3|protein_coding|6/7|c.2444A>G|p.Asn815Ser|2548/4339|2444/3840|815/1279||;p3_1000G_AA=G|||;p3_1000G_AC=4163;p3_1000G_AF=0.83127;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=18733;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92647223;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1269,115;ESP6500_AA_GTC=586,97,9;ESP6500_CDS_SIZES=NM_015237.2:4065;ESP6500_CG=3.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=19;ESP6500_EA_AC=2159,1021;ESP6500_EA_GTC=742,675,173;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015237.2:missense;ESP6500_GL=KIAA1107;ESP6500_GRCh38_POSITION=1:92181666;ESP6500_GS=46;ESP6500_GTC=1328,772,182;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015237.2:c.2669A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015237.2:p.(N890S);ESP6500_MAF=32.1069,8.3092,24.8904;ESP6500_PH=benign:0.0;ESP6500_TAC=3428,1136	GT:AD:DP:GQ:PL	1/1:0,30:30:89:1134,89,0
chr1	92181975	rs565156	C	A	1388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs565156;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|KIAA1107|KIAA1107|transcript|NM_015237.3|protein_coding|6/7|c.2753C>A|p.Thr918Asn|2857/4339|2753/3840|918/1279||;p3_1000G_AA=A|||;p3_1000G_AC=4986;p3_1000G_AF=0.995607;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=18909;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92647532;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1382,2;ESP6500_AA_GTC=690,2,0;ESP6500_CDS_SIZES=NM_015237.2:4065;ESP6500_CG=3.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=46;ESP6500_EA_AC=3123,59;ESP6500_EA_GTC=1533,57,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015237.2:missense;ESP6500_GL=KIAA1107;ESP6500_GRCh38_POSITION=1:92181975;ESP6500_GS=65;ESP6500_GTC=2223,59,1;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015237.2:c.2978C>A;ESP6500_HGVS_PROTEIN_VAR=NM_015237.2:p.(T993N);ESP6500_MAF=1.8542,0.1445,1.336;ESP6500_PH=benign:0.003;ESP6500_TAC=4505,61	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1417,129,0
chr1	92183778	rs569593	A	G	156.31	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=26.05;ReadPosRankSum=-1.383;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs569593;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|KIAA1107|KIAA1107|transcript|NM_015237.3|protein_coding|6/6|c.3374-86A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4174;p3_1000G_AF=0.833466;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=12387;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92649335;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,5:6:1:1|1:92183755_G_GTTT:182,1,0
chr1	92242443	rs141160833	A	AAC	450.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=4.977;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141160833;dbSNPBuildID=134;ANN=AAC|downstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NM_053274.2|protein_coding||c.*4085_*4086dupGT|||||3954|,AAC|downstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NM_001319683.1|protein_coding||c.*4085_*4086dupGT|||||3954|,AAC|downstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NR_135089.1|pseudogene||n.*3953_*3954dupGT|||||3954|,AAC|intron_variant|MODIFIER|C1orf146|C1orf146|transcript|NM_001012425.1|protein_coding|3/5|c.160+140_160+141dupCA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4667;p3_1000G_AF=0.931909;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=16589;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92708000;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:488,33,0
chr1	92245510	rs3131827	A	T	579.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3131827;dbSNPBuildID=103;ANN=T|downstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NM_053274.2|protein_coding||c.*1020T>A|||||888|,T|downstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NM_001319683.1|protein_coding||c.*1020T>A|||||888|,T|downstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NR_135089.1|pseudogene||n.*888T>A|||||888|,T|intron_variant|MODIFIER|C1orf146|C1orf146|transcript|NM_001012425.1|protein_coding|5/5|c.409-30A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3109;p3_1000G_AF=0.620807;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=16333;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92711067;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2046,2358;ESP6500_AA_AGE=561.4+/-380.7;ESP6500_AA_GTC=471,1104,627;ESP6500_CDS_SIZES=NM_001012425.1:543;ESP6500_CG=2.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=50;ESP6500_EA_AC=3840,4754;ESP6500_EA_AGE=531.4+/-382.0;ESP6500_EA_GTC=857,2126,1314;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001012425.1:intron;ESP6500_GL=C1orf146;ESP6500_GRCh38_POSITION=1:92245510;ESP6500_GTC=1328,3230,1941;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001012425.1:c.409-30A>T;ESP6500_MAF=44.6823,46.4578,45.2839;ESP6500_TAC=5886,7112	GT:AD:DP:GQ:PL	1/1:0,18:18:54:608,54,0
chr1	92246709	rs974924	C	T	107.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.58;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs974924;dbSNPBuildID=86;ANN=T|downstream_gene_variant|MODIFIER|C1orf146|C1orf146|transcript|NM_001012425.1|protein_coding||c.*1035C>T|||||899|,T|intron_variant|MODIFIER|GLMN|GLMN|transcript|NM_053274.2|protein_coding|18/18|c.1669-63G>A||||||,T|intron_variant|MODIFIER|GLMN|GLMN|transcript|NM_001319683.1|protein_coding|17/17|c.1627-63G>A||||||,T|intron_variant|MODIFIER|GLMN|GLMN|transcript|NR_135089.1|pseudogene|17/17|n.1699-63G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4990;p3_1000G_AF=0.996406;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18697;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92712266;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:136,15,0
chr1	92247041	rs35752451;rs397737127;rs112320006;rs3041546	GAA	G	1208.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.88;SOR=1.071;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35752451;dbSNPBuildID=132,138;ANN=G|downstream_gene_variant|MODIFIER|C1orf146|C1orf146|transcript|NM_001012425.1|protein_coding||c.*1368_*1369delAA|||||1232|,G|intron_variant|MODIFIER|GLMN|GLMN|transcript|NM_053274.2|protein_coding|18/18|c.1668+19_1668+20delTT||||||,G|intron_variant|MODIFIER|GLMN|GLMN|transcript|NM_001319683.1|protein_coding|17/17|c.1626+19_1626+20delTT||||||,G|intron_variant|MODIFIER|GLMN|GLMN|transcript|NR_135089.1|pseudogene|17/17|n.1698+19_1698+20delTT||||||;p3_1000G_AC=3099;p3_1000G_AF=0.61881;p3_1000G_AFR_AF=0.4705;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=19637;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92712598;p3_1000G_GRCH37_REF=GAA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=1962,8,2296;ESP6500_AA_GTC=447,0,1068,4,0,614;ESP6500_CDS_SIZES=NM_053274.2:1785,NM_053274.2:1785;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=102;ESP6500_EA_AC=3672,2,4580;ESP6500_EA_GTC=817,0,2038,1,0,1271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053274.2:intron,NM_053274.2:intron;ESP6500_GL=GLMN;ESP6500_GRCh38_POSITION=1:92247041;ESP6500_GTC=1264,0,3106,5,0,1885;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_053274.2:c.1668+20del1,NM_053274.2:c.1668+19_1668+20del2;ESP6500_MAF=44.5118,46.1791,45.0799;ESP6500_TAC=5634,10,6876	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1246,87,0
chr1	92269802	rs1487540	T	C	639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.38;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1487540;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|GLMN|GLMN|transcript|NM_053274.2|protein_coding|8/18|c.924-26A>G||||||,C|intron_variant|MODIFIER|GLMN|GLMN|transcript|NM_001319683.1|protein_coding|8/17|c.924-26A>G||||||,C|intron_variant|MODIFIER|GLMN|GLMN|transcript|NR_135089.1|pseudogene|8/17|n.1039-26A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3104;p3_1000G_AF=0.619808;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=17142;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92735359;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2060,2346;ESP6500_AA_AGE=540.4+/-375.5;ESP6500_AA_GTC=486,1088,629;ESP6500_CDS_SIZES=NM_053274.2:1785;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=45;ESP6500_EA_AC=3849,4749;ESP6500_EA_AGE=529.2+/-381.5;ESP6500_EA_GTC=863,2123,1313;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053274.2:intron;ESP6500_GL=GLMN;ESP6500_GRCh38_POSITION=1:92269802;ESP6500_GTC=1349,3211,1942;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_053274.2:c.924-26A>G;ESP6500_MAF=44.7662,46.7544,45.4399;ESP6500_TAC=5909,7095	GT:AD:DP:GQ:PL	1/1:0,18:18:54:668,54,0
chr1	92299271	rs10875348	T	A	868.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10875348;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NM_053274.2|protein_coding||c.-1272A>T|||||262|,A|upstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NM_001319683.1|protein_coding||c.-1272A>T|||||262|,A|upstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NR_135089.1|pseudogene||n.-262A>T|||||262|,A|intron_variant|MODIFIER|RPAP2|RPAP2|transcript|NM_024813.2|protein_coding|1/12|c.73+125T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4990;p3_1000G_AF=0.996406;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=12926;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92764828;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:897,81,0
chr1	92300291	rs1542685	A	T	2044.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1542685;dbSNPBuildID=88;ANN=T|upstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NM_053274.2|protein_coding||c.-2292T>A|||||1282|,T|upstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NM_001319683.1|protein_coding||c.-2292T>A|||||1282|,T|upstream_gene_variant|MODIFIER|GLMN|GLMN|transcript|NR_135089.1|pseudogene||n.-1282T>A|||||1282|,T|intron_variant|MODIFIER|RPAP2|RPAP2|transcript|NM_024813.2|protein_coding|2/12|c.119+52A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3103;p3_1000G_AF=0.619609;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=19563;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92765848;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1203,1451;ESP6500_AA_GTC=266,671,390;ESP6500_CDS_SIZES=NM_024813.2:1839;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=121;ESP6500_EA_AC=2054,2564;ESP6500_EA_GTC=471,1112,726;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024813.2:intron;ESP6500_GL=RPAP2;ESP6500_GRCh38_POSITION=1:92300291;ESP6500_GTC=737,1783,1116;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_024813.2:c.119+52A>T;ESP6500_MAF=44.4781,45.3278,44.7882;ESP6500_TAC=3257,4015	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2073,192,0
chr1	92333594	rs1487537	C	T	459.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1487537;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|RPAP2|RPAP2|transcript|NM_024813.2|protein_coding|9/12|c.1538+121C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4666;p3_1000G_AF=0.931709;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=19182;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92799151;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:488,42,0
chr1	92386947	rs10747411	A	G	270.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.34;QD=27.08;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10747411;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|RPAP2|RPAP2|transcript|NM_024813.2|protein_coding|12/12|c.1839-64A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4665;p3_1000G_AF=0.93151;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=20131;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92852504;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1322,62;ESP6500_AA_GTC=631,60,1;ESP6500_CDS_SIZES=NM_024813.2:1839;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=47;ESP6500_EA_AC=2553,629;ESP6500_EA_GTC=1026,501,64;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024813.2:intron;ESP6500_GL=RPAP2;ESP6500_GRCh38_POSITION=1:92386947;ESP6500_GTC=1657,561,65;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024813.2:c.1839-64A>G;ESP6500_MAF=19.7674,4.4798,15.1336;ESP6500_TAC=3875,691	GT:AD:DP:GQ:PL	1/1:0,10:10:30:299,30,0
chr1	92476048	rs777241871	G	A	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.251;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.136;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|GFI1|GFI1|transcript|NM_001127215.1|protein_coding|7/7|c.1250C>T|p.Thr417Met|1414/2701|1250/1269|417/422||,A|missense_variant|MODERATE|GFI1|GFI1|transcript|NM_001127216.1|protein_coding|7/7|c.1250C>T|p.Thr417Met|1407/2694|1250/1269|417/422||,A|missense_variant|MODERATE|GFI1|GFI1|transcript|NM_005263.3|protein_coding|7/7|c.1250C>T|p.Thr417Met|1500/2787|1250/1269|417/422||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,22:34:99:0|1:92476048_G_A:581,0,306
chr1	92480922	rs11164605;211078	G	A	623.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.35;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11164605;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|GFI1|GFI1|transcript|NM_001127215.1|protein_coding|4/7|c.465C>T|p.Cys155Cys|629/2701|465/1269|155/422||,A|synonymous_variant|LOW|GFI1|GFI1|transcript|NM_001127216.1|protein_coding|4/7|c.465C>T|p.Cys155Cys|622/2694|465/1269|155/422||,A|synonymous_variant|LOW|GFI1|GFI1|transcript|NM_005263.3|protein_coding|4/7|c.465C>T|p.Cys155Cys|715/2787|465/1269|155/422||;p3_1000G_AA=a|||;p3_1000G_AC=4602;p3_1000G_AF=0.91893;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=8570;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.8091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92946479;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;ESP6500_AA_AC=3900,300;ESP6500_AA_GTC=1812,276,12;ESP6500_CDS_SIZES=NM_005263.3:1269,NM_001127216.1:1269,NM_001127215.1:1269;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=5;ESP6500_EA_AC=6769,1555;ESP6500_EA_GTC=2761,1247,154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005263.3:coding-synonymous,NM_001127216.1:coding-synonymous,NM_001127215.1:coding-synonymous;ESP6500_GL=GFI1;ESP6500_GRCh38_POSITION=1:92480922;ESP6500_GTC=4573,1523,166;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005263.3:c.465C>T,NM_001127216.1:c.465C>T,NM_001127215.1:c.465C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005263.3:p.(C155),NM_001127216.1:p.(C155),NM_001127215.1:p.(C155);ESP6500_MAF=18.6809,7.1429,14.8116;ESP6500_TAC=10669,1855;CLINVAR_ALLELEID=206837;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0005549,MedGen:C1853118,Orphanet:ORPHA42738|MedGen:CN169374;CLINVAR_CLNDN=Severe_congenital_neutropenia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.92480922G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1755;CLINVAR_GENEINFO=GFI1:2672;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11164605	GT:AD:DP:GQ:PL	1/1:0,22:22:66:652,66,0
chr1	92513797	rs6603979;402836	A	G	1523.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.007;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6603979;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|19/19|c.2325T>C|p.Gly775Gly|2335/7436|2325/2466|775/821||,G|synonymous_variant|LOW|EVI5|EVI5|transcript|NM_005665.5|protein_coding|18/18|c.2292T>C|p.Gly764Gly|2302/7403|2292/2433|764/810||;p3_1000G_AA=G|||;p3_1000G_AC=4609;p3_1000G_AF=0.920327;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=12259;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.8072;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92979354;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9601;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4074,332;ESP6500_AA_AGE=175.1+/-204.6;ESP6500_AA_GTC=1885,304,14;ESP6500_CDS_SIZES=NM_005665.4:2433;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=89;ESP6500_EA_AC=6830,1770;ESP6500_EA_AGE=321.2+/-315.0;ESP6500_EA_GTC=2721,1388,191;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005665.4:coding-synonymous;ESP6500_GL=EVI5;ESP6500_GRCh38_POSITION=1:92513797;ESP6500_GTC=4606,1692,205;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005665.4:c.2292T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005665.4:p.(G764);ESP6500_MAF=20.5814,7.5352,16.1618;ESP6500_TAC=10904,2102;CLINVAR_ALLELEID=389473;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.92513797A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=EVI5:7813;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6603979	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1552,147,0
chr1	92605491	rs2050597	G	T	804.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.05;SOR=6.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2050597;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|16/18|c.1960-89C>A||||||,T|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_005665.5|protein_coding|15/17|c.1927-89C>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=4760;p3_1000G_AF=0.950479;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=17429;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93071048;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:833,60,0
chr1	92624266	rs7514716;402838	T	C	929.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7514716;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|15/19|c.1722A>G|p.Gln574Gln|1732/7436|1722/2466|574/821||,C|synonymous_variant|LOW|EVI5|EVI5|transcript|NM_005665.5|protein_coding|14/18|c.1689A>G|p.Gln563Gln|1699/7403|1689/2433|563/810||;p3_1000G_AA=T|||;p3_1000G_AC=4753;p3_1000G_AF=0.949081;p3_1000G_AFR_AF=0.9554;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=18493;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93089823;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4158,248;ESP6500_AA_AGE=803.5+/-415.7;ESP6500_AA_GTC=1965,228,10;ESP6500_CDS_SIZES=NM_005665.4:2433;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=174;ESP6500_EA_AC=7719,881;ESP6500_EA_AGE=778.7+/-407.7;ESP6500_EA_GTC=3462,795,43;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005665.4:coding-synonymous;ESP6500_GL=EVI5;ESP6500_GRCh38_POSITION=1:92624266;ESP6500_GTC=5427,1023,53;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005665.4:c.1689A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005665.4:p.(Q563);ESP6500_MAF=10.2442,5.6287,8.6806;ESP6500_TAC=11877,1129;CLINVAR_ALLELEID=389434;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.92624266T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=EVI5:7813;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7514716	GT:AD:DP:GQ:PL	1/1:0,29:29:87:958,87,0
chr1	92662957	rs11411366;rs397809144	T	TA	153.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.1;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11411366;dbSNPBuildID=137,138;ANN=TA|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|12/18|c.1377+462dupT||||||,TA|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_005665.5|protein_coding|11/17|c.1344+2981dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3499;p3_1000G_AF=0.698682;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=16669;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93128514;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,10:13:35:191,0,35
chr1	92663297	rs10747450	A	G	107.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10747450;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|12/18|c.1377+123T>C||||||,G|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_005665.5|protein_coding|11/17|c.1344+2642T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4760;p3_1000G_AF=0.950479;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=16143;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93128854;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:135,12,0
chr1	92695345	rs2391199;402839	T	C	557.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2391199;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|7/19|c.1006A>G|p.Ile336Val|1016/7436|1006/2466|336/821||,C|missense_variant|MODERATE|EVI5|EVI5|transcript|NM_005665.5|protein_coding|7/18|c.1006A>G|p.Ile336Val|1016/7403|1006/2433|336/810||;p3_1000G_AA=T|||;p3_1000G_AC=4759;p3_1000G_AF=0.95028;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=18853;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93160902;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4151,255;ESP6500_AA_AGE=803.2+/-415.7;ESP6500_AA_GTC=1958,235,10;ESP6500_CDS_SIZES=NM_005665.4:2433;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=117;ESP6500_EA_AC=7723,877;ESP6500_EA_AGE=779.1+/-407.7;ESP6500_EA_GTC=3465,793,42;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005665.4:missense;ESP6500_GL=EVI5;ESP6500_GRCh38_POSITION=1:92695345;ESP6500_GS=29;ESP6500_GTC=5423,1028,52;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005665.4:c.1006A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005665.4:p.(I336V);ESP6500_MAF=10.1977,5.7876,8.7037;ESP6500_PH=benign:0.0;ESP6500_TAC=11874,1132;CLINVAR_ALLELEID=389440;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.92695345T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=EVI5:7813;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2391199	GT:AD:DP:GQ:PL	1/1:0,18:18:54:586,54,0
chr1	92697828	rs7418336	A	G	703.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7418336;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|6/18|c.897+32T>C||||||,G|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_005665.5|protein_coding|6/17|c.897+32T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3551;p3_1000G_AF=0.709065;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=19899;p3_1000G_EAS_AF=0.9296;p3_1000G_EUR_AF=0.6203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93163385;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7843;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2401,2003;ESP6500_AA_AGE=611.5+/-391.8;ESP6500_AA_GTC=647,1107,448;ESP6500_CDS_SIZES=NM_005665.4:2433;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=64;ESP6500_EA_AC=5412,3184;ESP6500_EA_AGE=649.8+/-400.6;ESP6500_EA_GTC=1691,2030,577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005665.4:intron;ESP6500_GL=EVI5;ESP6500_GRCh38_POSITION=1:92697828;ESP6500_GTC=2338,3137,1025;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005665.4:c.897+32T>C;ESP6500_MAF=37.0405,45.4814,39.9;ESP6500_TAC=7813,5187	GT:AD:DP:GQ:PL	1/1:0,22:22:66:732,66,0
chr1	92698076	rs1017008	C	T	496.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1017008;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|5/18|c.772-91G>A||||||,T|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_005665.5|protein_coding|5/17|c.772-91G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4759;p3_1000G_AF=0.95028;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=20165;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93163633;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:525,48,0
chr1	92702053	rs10218567	C	T	444.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.8;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10218567;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|5/18|c.771+88G>A||||||,T|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_005665.5|protein_coding|5/17|c.771+88G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4758;p3_1000G_AF=0.95008;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=15227;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93167610;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:473,48,0
chr1	92702297	rs10218670	A	G	511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.31;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10218670;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_001308248.1|protein_coding|4/18|c.697-82T>C||||||,G|intron_variant|MODIFIER|EVI5|EVI5|transcript|NM_005665.5|protein_coding|4/17|c.697-82T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4758;p3_1000G_AF=0.95008;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=12353;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93167854;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:540,42,0
chr1	92840760	rs10874744;298213	G	A	733.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10874744;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|SNORD21|SNORD21|transcript|NR_000006.8|pseudogene||n.*3377G>A|||||3377|,A|downstream_gene_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001006605.4|protein_coding||c.*2623C>T|||||1400|,A|downstream_gene_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252271.1|protein_coding||c.*2623C>T|||||1400|,A|downstream_gene_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252269.1|protein_coding||c.*2623C>T|||||1400|,A|downstream_gene_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252270.1|protein_coding||c.*2623C>T|||||1400|,A|intron_variant|MODIFIER|RPL5|RPL5|transcript|NM_000969.3|protein_coding|7/7|c.794+121G>A||||||,A|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252273.1|protein_coding|4/4|c.474+6423C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|SNORA66|SNORA66|transcript|NR_002444.2|pseudogene|1/1|n.42G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3465;p3_1000G_AF=0.691893;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=19941;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93306317;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8078;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=817,935;ESP6500_AA_GTC=181,455,240;ESP6500_CDS_SIZES=NM_001252273.1:489,NM_000969.3:894;ESP6500_CG=-4.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=82;ESP6500_EA_AC=2446,1536;ESP6500_EA_GTC=751,944,296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001252273.1:intron,NM_000969.3:intron;ESP6500_GL=RPL5,FAM69A;ESP6500_GRCh38_POSITION=1:92840760;ESP6500_GTC=932,1399,536;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001252273.1:c.474+6423C>T,NM_000969.3:c.794+121G>A;ESP6500_MAF=38.5736,46.6324,43.0938;ESP6500_TAC=3263,2471;CLINVAR_ALLELEID=283380;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004810,MedGen:C1260899,Orphanet:ORPHA124,SNOMED_CT:88854002;CLINVAR_CLNDN=Diamond-Blackfan_anemia;CLINVAR_CLNHGVS=NC_000001.11:g.92840760G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:565299;CLINVAR_GENEINFO=RPL5:6125|SNORA66:26782|FAM69A:388650;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10874744	GT:AD:DP:GQ:PL	1/1:0,26:26:78:762,78,0
chr1	92843296	rs2244496	C	A	645.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2244496;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001006605.4|protein_coding|5/5|c.*87G>T|||||87|,A|3_prime_UTR_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252271.1|protein_coding|5/5|c.*87G>T|||||87|,A|3_prime_UTR_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252269.1|protein_coding|4/4|c.*87G>T|||||87|,A|3_prime_UTR_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252270.1|protein_coding|4/4|c.*87G>T|||||87|,A|downstream_gene_variant|MODIFIER|RPL5|RPL5|transcript|NM_000969.3|protein_coding||c.*1431C>A|||||1372|,A|downstream_gene_variant|MODIFIER|SNORA66|SNORA66|transcript|NR_002444.2|pseudogene||n.*2445C>A|||||2445|,A|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252273.1|protein_coding|4/4|c.474+3887G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4805;p3_1000G_AF=0.959465;p3_1000G_AFR_AF=0.9909;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=18254;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93308853;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:674,66,0
chr1	92850979	.	TAGTTAATAGAAAAATATTC	T	31.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.53;ReadPosRankSum=-0.712;SOR=0.446;DEL;HET;VARTYPE=DEL;ANN=T|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001006605.4|protein_coding|2/4|c.190-43_190-25delGAATATTTTTCTATTAACT||||||,T|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252273.1|protein_coding|2/4|c.190-43_190-25delGAATATTTTTCTATTAACT||||||,T|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252271.1|protein_coding|2/4|c.115-43_115-25delGAATATTTTTCTATTAACT||||||,T|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252269.1|protein_coding|1/3|c.55-43_55-25delGAATATTTTTCTATTAACT||||||,T|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252270.1|protein_coding|2/3|c.190-43_190-25delGAATATTTTTCTATTAACT||||||	GT:AD:DP:GQ:PL	0/1:5,2:7:69:69,0,1058
chr1	92961269	rs1277376436	G	A	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.016;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.847;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001006605.4|protein_coding|1/4|c.54+107C>T||||||,A|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252273.1|protein_coding|1/4|c.54+107C>T||||||,A|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252269.1|protein_coding|1/3|c.54+107C>T||||||,A|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252270.1|protein_coding|1/3|c.54+107C>T||||||	GT:AD:DP:GQ:PL	0/1:4,5:9:99:130,0,117
chr1	92961309	rs945629	T	C	606.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs945629;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001006605.4|protein_coding|1/4|c.54+67A>G||||||,C|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252273.1|protein_coding|1/4|c.54+67A>G||||||,C|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252269.1|protein_coding|1/3|c.54+67A>G||||||,C|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252270.1|protein_coding|1/3|c.54+67A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4979;p3_1000G_AF=0.994209;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=4349;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93426866;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:635,54,0
chr1	92961312	rs1415069	G	C	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0.367;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1415069;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001006605.4|protein_coding|1/4|c.54+64C>G||||||,C|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252273.1|protein_coding|1/4|c.54+64C>G||||||,C|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252269.1|protein_coding|1/3|c.54+64C>G||||||,C|intron_variant|MODIFIER|FAM69A|FAM69A|transcript|NM_001252270.1|protein_coding|1/3|c.54+64C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.7489;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=4315;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93426869;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:170,0,232
chr1	93079600	rs2815419	G	A	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.605;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2815419;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_007358.3|protein_coding|1/14|c.5+69G>A||||||,A|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164391.1|protein_coding|1/15|c.-222+69G>A||||||,A|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164392.1|protein_coding|1/13|c.5+69G>A||||||,A|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164393.1|protein_coding|1/12|c.-21+69G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3881;p3_1000G_AF=0.77496;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=16058;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.9175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93545157;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=671,713;ESP6500_AA_GTC=158,355,179;ESP6500_CDS_SIZES=NM_007358.3:1782,NM_001164393.1:1476,NM_001164392.1:1611,NM_001164391.1:1476;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=2961,221;ESP6500_EA_GTC=1384,193,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007358.3:intron,NM_001164393.1:intron,NM_001164392.1:intron,NM_001164391.1:intron;ESP6500_GL=MTF2;ESP6500_GRCh38_POSITION=1:93079600;ESP6500_GTC=1542,548,193;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007358.3:c.5+69G>A,NM_001164393.1:c.-35108G>A,NM_001164392.1:c.5+69G>A,NM_001164391.1:c.-35108G>A;ESP6500_MAF=6.9453,48.4827,20.4555;ESP6500_TAC=3632,934	GT:AD:DP:GQ:PL	0/1:5,6:11:99:154,0,112
chr1	93115435	rs566843	C	T	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.445;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.907;SOR=1.229;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs566843;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_007358.3|protein_coding|5/14|c.484-35C>T||||||,T|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164391.1|protein_coding|6/15|c.178-35C>T||||||,T|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164392.1|protein_coding|5/13|c.484-35C>T||||||,T|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164393.1|protein_coding|3/12|c.178-35C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3334;p3_1000G_AF=0.665735;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=16796;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.7425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93580992;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1221,3185;ESP6500_AA_AGE=399.0+/-331.0;ESP6500_AA_GTC=178,865,1160;ESP6500_CDS_SIZES=NM_007358.3:1782,NM_001164393.1:1476,NM_001164392.1:1611,NM_001164391.1:1476;ESP6500_CG=2.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=38;ESP6500_EA_AC=6576,2024;ESP6500_EA_AGE=703.5+/-405.3;ESP6500_EA_GTC=2524,1528,248;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007358.3:intron,NM_001164393.1:intron,NM_001164392.1:intron,NM_001164391.1:intron;ESP6500_GL=MTF2;ESP6500_GRCh38_POSITION=1:93115435;ESP6500_GTC=2702,2393,1408;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007358.3:c.484-35C>T,NM_001164393.1:c.178-35C>T,NM_001164392.1:c.484-35C>T,NM_001164391.1:c.178-35C>T;ESP6500_MAF=23.5349,27.7122,40.0507;ESP6500_TAC=7797,5209	GT:AD:DP:GQ:PL	0/1:7,6:13:99:163,0,200
chr1	93115467	rs2295423	T	C	240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.831;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.741;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2295423;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|MTF2|MTF2|transcript|NM_007358.3|protein_coding|5/14|c.484-3T>C||||||,C|splice_region_variant&intron_variant|LOW|MTF2|MTF2|transcript|NM_001164391.1|protein_coding|6/15|c.178-3T>C||||||,C|splice_region_variant&intron_variant|LOW|MTF2|MTF2|transcript|NM_001164392.1|protein_coding|5/13|c.484-3T>C||||||,C|splice_region_variant&intron_variant|LOW|MTF2|MTF2|transcript|NM_001164393.1|protein_coding|3/12|c.178-3T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2492;p3_1000G_AF=0.497604;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=16819;p3_1000G_EAS_AF=0.6409;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93581024;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=837,3569;ESP6500_AA_AGE=333.3+/-302.9;ESP6500_AA_GTC=78,681,1444;ESP6500_CDS_SIZES=NM_007358.3:1782,NM_001164393.1:1476,NM_001164392.1:1611,NM_001164391.1:1476;ESP6500_CG=4.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=5397,3203;ESP6500_EA_AGE=652.7+/-401.0;ESP6500_EA_GTC=1724,1949,627;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007358.3:intron,NM_001164393.1:intron,NM_001164392.1:intron,NM_001164391.1:intron;ESP6500_GL=MTF2;ESP6500_GRCh38_POSITION=1:93115467;ESP6500_GTC=1802,2630,2071;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007358.3:c.484-3T>C,NM_001164393.1:c.178-3T>C,NM_001164392.1:c.484-3T>C,NM_001164391.1:c.178-3T>C;ESP6500_MAF=37.2442,18.9968,47.9317;ESP6500_TAC=6234,6772	GT:AD:DP:GQ:PL	0/1:12,11:23:99:269,0,263
chr1	93136637	rs2281524	C	T	504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2281524;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_007358.3|protein_coding|14/14|c.1425-33C>T||||||,T|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164391.1|protein_coding|15/15|c.1119-33C>T||||||,T|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164392.1|protein_coding|13/13|c.1254-33C>T||||||,T|intron_variant|MODIFIER|MTF2|MTF2|transcript|NM_001164393.1|protein_coding|12/12|c.1119-33C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4241;p3_1000G_AF=0.846845;p3_1000G_AFR_AF=0.9629;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=19616;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.9135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93602194;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4168,238;ESP6500_AA_AGE=132.5+/-169.0;ESP6500_AA_GTC=1971,226,6;ESP6500_CDS_SIZES=NM_007358.3:1782,NM_001164393.1:1476,NM_001164392.1:1611,NM_001164391.1:1476;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=7674,924;ESP6500_EA_AGE=192.3+/-238.3;ESP6500_EA_GTC=3424,826,49;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007358.3:intron,NM_001164393.1:intron,NM_001164392.1:intron,NM_001164391.1:intron;ESP6500_GL=MTF2;ESP6500_GRCh38_POSITION=1:93136637;ESP6500_GTC=5395,1052,55;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007358.3:c.1425-33C>T,NM_001164393.1:c.1119-33C>T,NM_001164392.1:c.1254-33C>T,NM_001164391.1:c.1119-33C>T;ESP6500_MAF=10.7467,5.4017,8.9357;ESP6500_TAC=11842,1162	GT:AD:DP:GQ:PL	1/1:0,15:15:45:533,45,0
chr1	93154836	rs1060622	G	A	621.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.472;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.129;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1060622;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|TMED5|TMED5|transcript|NM_016040.4|protein_coding|4/4|c.524C>T|p.Thr175Ile|971/6065|524/690|175/229||,A|synonymous_variant|LOW|TMED5|TMED5|transcript|NM_001167830.1|protein_coding|5/5|c.573C>T|p.Asn191Asn|1020/6114|573/582|191/193||,A|non_coding_transcript_exon_variant|MODIFIER|TMED5|TMED5|transcript|NR_030761.1|pseudogene|5/5|n.1042C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2456;p3_1000G_AF=0.490415;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=18336;p3_1000G_EAS_AF=0.6438;p3_1000G_EUR_AF=0.6302;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93620393;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=734,3672;ESP6500_AA_AGE=304.4+/-288.4;ESP6500_AA_GTC=62,610,1531;ESP6500_CDS_SIZES=NM_016040.4:690,NM_001167830.1:582;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=150;ESP6500_EA_AC=5383,3217;ESP6500_EA_AGE=652.4+/-400.9;ESP6500_EA_GTC=1713,1957,630;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016040.4:missense,NM_001167830.1:coding-synonymous;ESP6500_GL=TMED5;ESP6500_GRCh38_POSITION=1:93154836;ESP6500_GS=89,.;ESP6500_GTC=1775,2567,2161;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016040.4:c.524C>T,NM_001167830.1:c.573C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016040.4:p.(T175I),NM_001167830.1:p.(N191);ESP6500_MAF=37.407,16.6591,47.0321;ESP6500_PH=possibly-damaging:0.945,.;ESP6500_TAC=6117,6889	GT:AD:DP:GQ:PL	0/1:28,25:53:99:650,0,828
chr1	93158817	rs12130734	T	C	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.148;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.778;SOR=0.498;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12130734;dbSNPBuildID=120;ANN=C|splice_region_variant&non_coding_transcript_exon_variant|LOW|TMED5|TMED5|transcript|NR_030761.1|pseudogene|3/5|n.803A>G||||||,C|intron_variant|MODIFIER|TMED5|TMED5|transcript|NM_016040.4|protein_coding|2/3|c.287+1312A>G||||||,C|intron_variant|MODIFIER|TMED5|TMED5|transcript|NM_001167830.1|protein_coding|2/4|c.287+1312A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3076;p3_1000G_AF=0.614217;p3_1000G_AFR_AF=0.4728;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=16187;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93624374;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,15:25:99:327,0,198
chr1	93180650	rs2297707	T	C	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=1.5;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297707;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|TMED5|TMED5|transcript|NM_016040.4|protein_coding|1/4|c.-408A>G|||||408|,C|5_prime_UTR_variant|MODIFIER|TMED5|TMED5|transcript|NM_001167830.1|protein_coding|1/5|c.-408A>G|||||408|,C|upstream_gene_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding||c.-2712T>C|||||66|,C|upstream_gene_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding||c.-2712T>C|||||66|,C|non_coding_transcript_exon_variant|MODIFIER|TMED5|TMED5|transcript|NR_030761.1|pseudogene|1/5|n.40A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2580;p3_1000G_AF=0.515176;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=11495;p3_1000G_EAS_AF=0.6438;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93646207;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=868,2692;ESP6500_AA_GTC=121,626,1033;ESP6500_CDS_SIZES=NM_016040.4:690,NM_001167830.1:582;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=14;ESP6500_EA_AC=5251,2727;ESP6500_EA_GTC=1806,1639,544;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016040.4:utr-5,NM_001167830.1:utr-5;ESP6500_GL=TMED5;ESP6500_GRCh38_POSITION=1:93180650;ESP6500_GTC=1927,2265,1577;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016040.4:c.-408A>G,NM_001167830.1:c.-408A>G;ESP6500_MAF=34.1815,24.382,46.9665;ESP6500_TAC=6119,5419	GT:AD:DP:GQ:PL	0/1:4,5:9:97:185,0,97
chr1	93183259	rs2815409	A	G	281.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.41;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2815409;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|TMED5|TMED5|transcript|NM_016040.4|protein_coding||c.-3017T>C|||||2570|,G|upstream_gene_variant|MODIFIER|TMED5|TMED5|transcript|NM_001167830.1|protein_coding||c.-3017T>C|||||2570|,G|upstream_gene_variant|MODIFIER|TMED5|TMED5|transcript|NR_030761.1|pseudogene||n.-2570T>C|||||2570|,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|1/28|c.-2-101A>G||||||,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|1/27|c.-2-101A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4435;p3_1000G_AF=0.885583;p3_1000G_AFR_AF=0.7859;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=18377;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93648816;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:310,24,0
chr1	93184175	rs6682670	A	G	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.46;ReadPosRankSum=-1.282;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6682670;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|TMED5|TMED5|transcript|NM_016040.4|protein_coding||c.-3933T>C|||||3486|,G|upstream_gene_variant|MODIFIER|TMED5|TMED5|transcript|NM_001167830.1|protein_coding||c.-3933T>C|||||3486|,G|upstream_gene_variant|MODIFIER|TMED5|TMED5|transcript|NR_030761.1|pseudogene||n.-3486T>C|||||3486|,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|3/28|c.303+29A>G||||||,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|3/27|c.303+29A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2583;p3_1000G_AF=0.515775;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=12217;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.6541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93649732;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=815,2743;ESP6500_AA_GTC=100,615,1064;ESP6500_CDS_SIZES=NM_206886.3:3900;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=21;ESP6500_EA_AC=5330,2770;ESP6500_EA_GTC=1797,1736,517;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206886.3:intron;ESP6500_GL=CCDC18;ESP6500_GRCh38_POSITION=1:93184175;ESP6500_GTC=1897,2351,1581;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206886.3:c.303+29A>G;ESP6500_MAF=34.1975,22.9061,47.2894;ESP6500_TAC=6145,5513	GT:AD:DP:GQ:PL	0/1:2,4:6:55:151,0,55
chr1	93207166	rs2815413	A	C	391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.665;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.58;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2815413;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|9/29|c.977A>C|p.Asn326Thr|1146/4787|977/4365|326/1454||,C|missense_variant|MODERATE|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|9/28|c.977A>C|p.Asn326Thr|1146/4322|977/3900|326/1299||;p3_1000G_AA=A|||;p3_1000G_AC=3746;p3_1000G_AF=0.748003;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=16472;p3_1000G_EAS_AF=0.9623;p3_1000G_EUR_AF=0.8052;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93672723;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9652;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1547,2109;ESP6500_AA_GTC=336,875,617;ESP6500_CDS_SIZES=NM_206886.3:3900;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=6700,1450;ESP6500_EA_GTC=2760,1180,135;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206886.3:missense;ESP6500_GL=CCDC18;ESP6500_GRCh38_POSITION=1:93207166;ESP6500_GS=65;ESP6500_GTC=3096,2055,752;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_206886.3:c.977A>C;ESP6500_HGVS_PROTEIN_VAR=NM_206886.3:p.(N326T);ESP6500_MAF=17.7914,42.314,30.1457;ESP6500_PH=possibly-damaging:0.649;ESP6500_TAC=8247,3559	GT:AD:DP:GQ:PL	0/1:11,17:28:99:420,0,268
chr1	93210757	rs555161	A	G	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.1;ReadPosRankSum=-0.309;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs555161;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|9/28|c.1210-45A>G||||||,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|9/27|c.1210-45A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2583;p3_1000G_AF=0.515775;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=16409;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.6541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93676314;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=835,2731;ESP6500_AA_GTC=107,621,1055;ESP6500_CDS_SIZES=NM_206886.3:3900;ESP6500_CG=4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=28;ESP6500_EA_AC=5330,2778;ESP6500_EA_GTC=1796,1738,520;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206886.3:intron;ESP6500_GL=CCDC18;ESP6500_GRCh38_POSITION=1:93210757;ESP6500_GTC=1903,2359,1575;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206886.3:c.1210-45A>G;ESP6500_MAF=34.2625,23.4156,47.1903;ESP6500_TAC=6165,5509	GT:AD:DP:GQ:PL	0/1:12,5:17:99:132,0,336
chr1	93211021	rs797676	A	G	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs797676;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|10/28|c.1334+95A>G||||||,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|10/27|c.1334+95A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2453;p3_1000G_AF=0.489816;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=17052;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.6352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93676578;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:99:101,0,199
chr1	93216598	rs139085212	T	TA	99.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.852;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-1.55;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs139085212;dbSNPBuildID=134;ANN=TA|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|12/28|c.1717-32dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|12/27|c.1720-32dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAAAAA|AAAAAA|AAAAAAA|insertion;p3_1000G_AC=200;p3_1000G_AF=0.0399361;p3_1000G_AFR_AF=0.1165;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=14888;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93682155;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=INDEL;ESP6500_AA_AC=273,3187;ESP6500_AA_GTC=18,237,1475;ESP6500_CDS_SIZES=NM_206886.3:3900;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=18;ESP6500_EA_AC=4,7758;ESP6500_EA_GTC=0,4,3877;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206886.3:intron;ESP6500_GL=CCDC18;ESP6500_GRCh38_POSITION=1:93216598;ESP6500_GTC=18,241,5352;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_206886.3:c.1720-38_1720-37insA;ESP6500_MAF=0.0515,7.8902,2.4684;ESP6500_TAC=277,10945	GT:AD:DP:GQ:PL	0/1:5,6:11:99:137,0,123
chr1	93217653	rs624131	A	G	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.126;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs624131;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|13/28|c.1828-85A>G||||||,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|13/27|c.1831-85A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2545;p3_1000G_AF=0.508187;p3_1000G_AFR_AF=0.9304;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=18237;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93683210;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:61:78,0,61
chr1	93221971	rs113139948	C	CT	93.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.111;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-1.148;SOR=0.307;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113139948;dbSNPBuildID=132;ANN=CT|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|16/28|c.2172+49dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|16/27|c.2175+49dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:5,8:13:91:131,0,91
chr1	93226298	rs34227600;rs398049455	GT	G	197.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.691;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.717;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=2.19;SOR=1.609;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34227600;dbSNPBuildID=126,138;ANN=G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|16/28|c.2173-19delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|16/27|c.2176-19delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2318;p3_1000G_AF=0.462859;p3_1000G_AFR_AF=0.6876;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=14498;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93691855;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,12:22:99:235,0,205
chr1	93232665	rs661566	C	G	14.68	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.68;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs661566;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|18/28|c.2457+72C>G||||||,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|18/27|c.2460+72C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1263;p3_1000G_AF=0.252196;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=17685;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93698222;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,1:1:3:41,3,0
chr1	93239236	rs397980841;rs5776176;rs574086477	CT	C	11.08	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=1.38;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5776176;dbSNPBuildID=126,138;ANN=C|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|19/28|c.2601-65delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|19/27|c.2604-65delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2430;p3_1000G_AF=0.485224;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=17113;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.3449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93704793;p3_1000G_GRCH37_REF=CT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,2:4:46:48,0,46
chr1	93246225	rs3754186	T	A	51.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.198;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-0.76;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754186;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|22/28|c.3078+21T>A||||||,A|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|22/27|c.3081+21T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2215;p3_1000G_AF=0.442292;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=15968;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.5408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93711782;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=368,3224;ESP6500_AA_GTC=27,314,1455;ESP6500_CDS_SIZES=NM_206886.3:3900;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=4155,3985;ESP6500_EA_GTC=1067,2021,982;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206886.3:intron;ESP6500_GL=CCDC18;ESP6500_GRCh38_POSITION=1:93246225;ESP6500_GTC=1094,2335,2437;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_206886.3:c.3081+21T>A;ESP6500_MAF=48.9558,10.245,38.5527;ESP6500_TAC=4523,7209	GT:AD:DP:GQ:PL	0/1:9,5:14:80:80,0,231
chr1	93246236	rs3754187	T	G	207.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.362;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=-1.139;SOR=0.175;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754187;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|22/28|c.3078+32T>G||||||,G|intron_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|22/27|c.3081+32T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=200;p3_1000G_AF=0.0399361;p3_1000G_AFR_AF=0.1165;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=16249;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93711793;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=260,3340;ESP6500_AA_GTC=15,230,1555;ESP6500_CDS_SIZES=NM_206886.3:3900;ESP6500_CG=4.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=67;ESP6500_EA_AC=4,8130;ESP6500_EA_GTC=0,4,4063;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206886.3:intron;ESP6500_GL=CCDC18;ESP6500_GRCh38_POSITION=1:93246236;ESP6500_GTC=15,234,5618;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_206886.3:c.3081+32T>G;ESP6500_MAF=0.0492,7.2222,2.2499;ESP6500_TAC=264,11470	GT:AD:DP:GQ:PL	0/1:3,9:12:89:236,0,89
chr1	93278498	rs10874767	G	A	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.723;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.34;ReadPosRankSum=0.191;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10874767;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_001306076.1|protein_coding|29/29|c.*21G>A|||||21|,A|3_prime_UTR_variant|MODIFIER|CCDC18|CCDC18|transcript|NM_206886.4|protein_coding|28/28|c.*21G>A|||||21|;p3_1000G_AA=G|||;p3_1000G_AC=775;p3_1000G_AF=0.154752;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=12413;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=93744055;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=978,2590;ESP6500_AA_GTC=126,726,932;ESP6500_CDS_SIZES=NM_206886.3:3900;ESP6500_CG=3.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=87;ESP6500_EA_AC=1405,6675;ESP6500_EA_GTC=125,1155,2760;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206886.3:utr-3;ESP6500_GL=CCDC18;ESP6500_GRCh38_POSITION=1:93278498;ESP6500_GTC=251,1881,3692;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_206886.3:c.*21G>A;ESP6500_MAF=17.3886,27.4103,20.4584;ESP6500_TAC=2383,9265	GT:AD:DP:GQ:PL	0/1:8,3:11:54:54,0,264
chr1	93533083	rs34814765;rs397802228	AT	A	405.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.435;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.852;SOR=0.313;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34814765;dbSNPBuildID=126,138;ANN=A|intron_variant|MODIFIER|FNBP1L|FNBP1L|transcript|NM_001164473.2|protein_coding|8/16|c.786+17delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|FNBP1L|FNBP1L|transcript|NM_001024948.2|protein_coding|8/13|c.786+17delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|FNBP1L|FNBP1L|transcript|NM_017737.4|protein_coding|8/14|c.786+17delT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=558,3010;ESP6500_AA_GTC=63,432,1289;ESP6500_CDS_SIZES=NM_017737.4:1644,NM_001164473.2:1818,NM_001024948.2:1656;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=73;ESP6500_EA_AC=4850,3006;ESP6500_EA_GTC=1508,1834,586;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017737.4:intron,NM_001164473.2:intron,NM_001024948.2:intron;ESP6500_GL=FNBP1L;ESP6500_GRCh38_POSITION=1:93533083;ESP6500_GTC=1571,2266,1875;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_017737.4:c.786+16del1,NM_001164473.2:c.786+16del1,NM_001024948.2:c.786+16del1;ESP6500_MAF=38.2637,15.639,47.3389;ESP6500_TAC=5408,6016	GT:AD:DP:GQ:PL	0/1:13,14:27:99:443,0,405
chr1	93546730	rs237425	G	A	81.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs237425;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|FNBP1L|FNBP1L|transcript|NM_001164473.2|protein_coding|12/16|c.1275-112G>A||||||,A|intron_variant|MODIFIER|FNBP1L|FNBP1L|transcript|NM_001024948.2|protein_coding|10/13|c.1101-112G>A||||||,A|intron_variant|MODIFIER|FNBP1L|FNBP1L|transcript|NM_017737.4|protein_coding|10/14|c.1101-112G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4435;p3_1000G_AF=0.885583;p3_1000G_AFR_AF=0.8253;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=17988;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.7873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94012287;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:109,9,0
chr1	93576230	rs25569;rs397744522	G	GAC	868.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=2.636;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs25569;dbSNPBuildID=72,138;ANN=GAC|intron_variant|MODIFIER|BCAR3|BCAR3|transcript|NM_001261408.1|protein_coding|9/13|c.1687-103_1687-102dupGT||||||,GAC|intron_variant|MODIFIER|BCAR3|BCAR3|transcript|NM_001308251.1|protein_coding|3/7|c.715-103_715-102dupGT||||||,GAC|intron_variant|MODIFIER|BCAR3|BCAR3|transcript|NM_001261410.1|protein_coding|5/9|c.1414-103_1414-102dupGT||||||,GAC|intron_variant|MODIFIER|BCAR3|BCAR3|transcript|NM_001261409.1|protein_coding|7/11|c.1687-103_1687-102dupGT||||||,GAC|intron_variant|MODIFIER|BCAR3|BCAR3|transcript|NM_003567.3|protein_coding|7/11|c.1687-103_1687-102dupGT||||||;p3_1000G_AC=4638;p3_1000G_AF=0.926118;p3_1000G_AFR_AF=0.9909;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=23581;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94041787;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,21:21:63:906,63,0
chr1	93875581	rs2273166	C	T	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.342;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.161;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273166;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DNTTIP2|DNTTIP2|transcript|NM_014597.4|protein_coding|3/6|c.1806+64G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2236;p3_1000G_AF=0.446486;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=17857;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.3976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94341137;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:272,0,346
chr1	93875711	rs2273165	A	G	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.579;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.731;SOR=0.724;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273165;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|DNTTIP2|DNTTIP2|transcript|NM_014597.4|protein_coding|3/7|c.1740T>C|p.Phe580Phe|1798/2722|1740/2271|580/756||;p3_1000G_AA=G|||;p3_1000G_AC=2673;p3_1000G_AF=0.533746;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=15809;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94341267;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1895,1789;ESP6500_AA_GTC=462,971,409;ESP6500_CDS_SIZES=NM_014597.4:2271;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=182;ESP6500_EA_AC=3509,4671;ESP6500_EA_GTC=723,2063,1304;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014597.4:coding-synonymous;ESP6500_GL=DNTTIP2;ESP6500_GRCh38_POSITION=1:93875711;ESP6500_GTC=1185,3034,1713;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014597.4:c.1740T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014597.4:p.(F580);ESP6500_MAF=42.8973,48.5613,45.5496;ESP6500_TAC=5404,6460	GT:AD:DP:GQ:PL	0/1:25,23:48:99:536,0,565
chr1	93877008	rs3747965	C	A	829.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.78;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=4.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.236;SOR=0.553;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747965;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|DNTTIP2|DNTTIP2|transcript|NM_014597.4|protein_coding|2/7|c.927G>T|p.Glu309Asp|985/2722|927/2271|309/756||;p3_1000G_AA=C|||;p3_1000G_AC=1727;p3_1000G_AF=0.344848;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=19818;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.325;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94342564;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=505,3149;ESP6500_AA_GTC=34,437,1356;ESP6500_CDS_SIZES=NM_014597.4:2271;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=58;ESP6500_EA_AC=2741,5429;ESP6500_EA_GTC=446,1849,1790;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014597.4:missense;ESP6500_GL=DNTTIP2;ESP6500_GRCh38_POSITION=1:93877008;ESP6500_GS=45;ESP6500_GTC=480,2286,3146;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_014597.4:c.927G>T;ESP6500_HGVS_PROTEIN_VAR=NM_014597.4:p.(E309D);ESP6500_MAF=33.5496,13.8205,27.4526;ESP6500_PH=benign:0.006;ESP6500_TAC=3246,8578	GT:AD:DP:GQ:PL	0/1:32,34:66:99:858,0,1063
chr1	93877467	rs2391322	A	G	1080.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.703;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.732;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=-0.131;SOR=0.348;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2391322;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|DNTTIP2|DNTTIP2|transcript|NM_014597.4|protein_coding|2/7|c.468T>C|p.Pro156Pro|526/2722|468/2271|156/756||;p3_1000G_AA=G|||;p3_1000G_AC=2188;p3_1000G_AF=0.436901;p3_1000G_AFR_AF=0.3782;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=20363;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94343023;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1395,2271;ESP6500_AA_GTC=250,895,688;ESP6500_CDS_SIZES=NM_014597.4:2271;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=106;ESP6500_EA_AC=2925,5263;ESP6500_EA_GTC=505,1915,1674;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014597.4:coding-synonymous;ESP6500_GL=DNTTIP2;ESP6500_GRCh38_POSITION=1:93877467;ESP6500_GTC=755,2810,2362;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014597.4:c.468T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014597.4:p.(P156);ESP6500_MAF=35.723,38.0524,36.4434;ESP6500_TAC=4320,7534	GT:AD:DP:GQ:PL	0/1:21,40:61:99:1109,0,522
chr1	93877677	rs3789457	T	C	810.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=8.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.01;SOR=0.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3789457;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|DNTTIP2|DNTTIP2|transcript|NM_014597.4|protein_coding|2/7|c.258A>G|p.Glu86Glu|316/2722|258/2271|86/756||;p3_1000G_AA=C|||;p3_1000G_AC=3802;p3_1000G_AF=0.759185;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=20028;p3_1000G_EAS_AF=0.7857;p3_1000G_EUR_AF=0.662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94343233;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3026,806;ESP6500_AA_GTC=1184,658,74;ESP6500_CDS_SIZES=NM_014597.4:2271;ESP6500_CG=-0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=106;ESP6500_EA_AC=5732,2506;ESP6500_EA_GTC=2002,1728,389;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014597.4:coding-synonymous;ESP6500_GL=DNTTIP2;ESP6500_GRCh38_POSITION=1:93877677;ESP6500_GTC=3186,2386,463;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014597.4:c.258A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014597.4:p.(E86);ESP6500_MAF=30.42,21.0334,27.4399;ESP6500_TAC=8758,3312	GT:AD:DP:GQ:PL	0/1:32,29:61:99:839,0,937
chr1	93879024	rs6675820	C	A	526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.795;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.261;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6675820;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|DNTTIP2|DNTTIP2|transcript|NM_014597.4|protein_coding|1/6|c.72+53G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1651;p3_1000G_AF=0.329673;p3_1000G_AFR_AF=0.438;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=16499;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94344580;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=550,834;ESP6500_AA_GTC=106,338,248;ESP6500_CDS_SIZES=NM_014597.4:2271;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=40;ESP6500_EA_AC=1136,2046;ESP6500_EA_GTC=202,732,657;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014597.4:intron;ESP6500_GL=DNTTIP2;ESP6500_GRCh38_POSITION=1:93879024;ESP6500_GTC=308,1070,905;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_014597.4:c.72+53G>T;ESP6500_MAF=35.7008,39.7399,36.9251;ESP6500_TAC=1686,2880	GT:AD:DP:GQ:PL	0/1:30,21:51:99:555,0,878
chr1	93879160	rs2235971	C	T	1024.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.193;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=8.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.826;SOR=1.384;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235971;dbSNPBuildID=98;ANN=T|5_prime_UTR_variant|MODIFIER|DNTTIP2|DNTTIP2|transcript|NM_014597.4|protein_coding|1/7|c.-12G>A|||||12|;p3_1000G_AA=C|||;p3_1000G_AC=1744;p3_1000G_AF=0.348243;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=18037;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.325;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94344716;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=563,3307;ESP6500_AA_GTC=43,477,1415;ESP6500_CDS_SIZES=NM_014597.4:2271;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=59;ESP6500_EA_AC=2759,5507;ESP6500_EA_GTC=449,1861,1823;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014597.4:utr-5;ESP6500_GL=DNTTIP2;ESP6500_GRCh38_POSITION=1:93879160;ESP6500_GTC=492,2338,3238;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014597.4:c.-12G>A;ESP6500_MAF=33.3777,14.5478,27.3731;ESP6500_TAC=3322,8814	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1053,0,1308
chr1	94005519	rs1762114;136235	A	G	1177.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1762114;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|44/50|c.6069T>C|p.Ile2023Ile|6173/7325|6069/6822|2023/2273||;p3_1000G_AA=G|||;p3_1000G_AC=3856;p3_1000G_AF=0.769968;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=22615;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.9394;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94471075;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2063,2343;ESP6500_AA_AGE=606.1+/-390.7;ESP6500_AA_GTC=494,1075,634;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...24&amp%3Brs...1762114;ESP6500_CDS_SIZES=NM_000350.2:6822;ESP6500_CG=-11.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=112;ESP6500_EA_AC=8026,574;ESP6500_EA_AGE=154.0+/-208.3;ESP6500_EA_GTC=3750,526,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000350.2:coding-synonymous;ESP6500_GL=ABCA4;ESP6500_GRCh38_POSITION=1:94005519;ESP6500_GTC=4244,1601,658;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000350.2:c.6069T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000350.2:p.(I2023);ESP6500_MAF=6.6744,46.8225,22.4281;ESP6500_TAC=10089,2917;CLINVAR_ALLELEID=139938;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:CN169374|MedGen:CN239309|MedGen:CN239312|MedGen:CN239466|MedGen:CN517202;CLINVAR_CLNDN=Macular_degeneration|not_specified|Cone-Rod_Dystrophy,_Recessive|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.94005519A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:56948|Illumina_Clinical_Services_Laboratory,Illumina:1783;CLINVAR_GENEINFO=ABCA4:24;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1762114	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1206,114,0
chr1	94010999	rs537831;99389	G	A	1415.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=2.356;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs537831;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|39/49|c.5585-70C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3463;p3_1000G_AF=0.691494;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=18575;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.7097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94476555;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;CLINVAR_ALLELEID=105278;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.94010999G>A;CLINVAR_CLNREVSTAT=no_assertion_provided;CLINVAR_CLNSIG=not_provided;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ABCA4:24;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_RS=537831	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1444,129,0
chr1	94021729	rs55860151;~rs3831251;255923	AAC	A	1432.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55860151;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|33/49|c.4774-17_4774-16delGT||||||;p3_1000G_AC=1122;p3_1000G_AF=0.224042;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=18103;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94487285;p3_1000G_GRCH37_REF=AAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=INDEL;ESP6500_AA_AC=191,4075;ESP6500_AA_GTC=8,175,1950;ESP6500_CDS_SIZES=NM_000350.2:6822;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=38;ESP6500_EA_AC=1675,6575;ESP6500_EA_GTC=164,1347,2614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000350.2:intron;ESP6500_GL=ABCA4;ESP6500_GRCh38_POSITION=1:94021729;ESP6500_GTC=172,1522,4564;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000350.2:c.4774-17_4774-16del2;ESP6500_MAF=20.303,4.4773,14.9089;ESP6500_TAC=1866,10650;CLINVAR_AF_ESP=0.1491;CLINVAR_AF_EXAC=0.21352;CLINVAR_AF_TGP=0.2240;CLINVAR_ALLELEID=250031;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:CN169374|MedGen:CN239309|MedGen:CN239312|MedGen:CN239466;CLINVAR_CLNDN=Macular_degeneration|not_specified|Cone-Rod_Dystrophy,_Recessive|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.94021730_94021731delAC;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:495668;CLINVAR_GENEINFO=ABCA4:24;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=55860151	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1470,102,0
chr1	94030374	rs547806	T	C	1478.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs547806;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|29/49|c.4352+54A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4949;p3_1000G_AF=0.988219;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18972;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94495930;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1507,120,0
chr1	94062807	rs4147833;99079	C	T	392.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4147833;dbSNPBuildID=110;ANN=T|intron_variant|MODIFIER|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|12/49|c.1761-54G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1871;p3_1000G_AF=0.373602;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=14940;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94528363;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.3736;CLINVAR_ALLELEID=104968;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.94062807C>T;CLINVAR_CLNREVSTAT=no_assertion_provided;CLINVAR_CLNSIG=not_provided;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ABCA4:24;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_RS=4147833	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:94062805_C_G:421,33,0
chr1	94078720	rs4147830;99037	G	A	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.7;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=6.262;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=1.31;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147830;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|9/49|c.1240-14C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2578;p3_1000G_AF=0.514776;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=14834;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.4801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94544276;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2098,2308;ESP6500_AA_AGE=574.0+/-383.7;ESP6500_AA_GTC=489,1120,594;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...24&amp%3Brs...4147830;ESP6500_CDS_SIZES=NM_000350.2:6822;ESP6500_CG=3.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=128;ESP6500_EA_AC=3956,4644;ESP6500_EA_AGE=550.8+/-385.8;ESP6500_EA_GTC=919,2118,1263;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000350.2:intron;ESP6500_GL=ABCA4;ESP6500_GRCh38_POSITION=1:94078720;ESP6500_GTC=1408,3238,1857;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000350.2:c.1240-14C>T;ESP6500_MAF=46.0,47.6169,46.5477;ESP6500_TAC=6054,6952;CLINVAR_AF_ESP=0.4655;CLINVAR_AF_EXAC=0.48144;CLINVAR_ALLELEID=104927;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:CN169374|MedGen:CN239309|MedGen:CN239312|MedGen:CN239466|MedGen:CN517202;CLINVAR_CLNDN=Macular_degeneration|not_specified|Cone-Rod_Dystrophy,_Recessive|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.94078720G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1823;CLINVAR_GENEINFO=ABCA4:24;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4147830	GT:AD:DP:GQ:PL	0/1:14,13:27:99:281,0,401
chr1	94078770	rs3215952	GT	G	176.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.31;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.726;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=2.79;SOR=3.086;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3215952;dbSNPBuildID=106;ANN=G|intron_variant|MODIFIER|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|9/49|c.1240-65delA||||||;p3_1000G_AA=TT|TT|T|deletion;p3_1000G_AC=2579;p3_1000G_AF=0.514976;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=15821;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.4801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94544326;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,7:16:99:214,0,273
chr1	94098927	rs6657239;99454	C	T	626.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.878;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-2.117;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6657239;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|6/50|c.635G>A|p.Arg212His|739/7325|635/6822|212/2273||;p3_1000G_AA=C|||;p3_1000G_AC=267;p3_1000G_AF=0.0533147;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=18327;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0.0517;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94564483;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=311,4095;ESP6500_AA_AGE=168.3+/-199.2;ESP6500_AA_GTC=6,299,1898;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...24&amp%3Brs...6657239;ESP6500_CDS_SIZES=NM_000350.2:6822;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=293,8307;ESP6500_EA_AGE=108.2+/-168.9;ESP6500_EA_GTC=7,279,4014;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000350.2:missense;ESP6500_GL=ABCA4;ESP6500_GRCh38_POSITION=1:94098927;ESP6500_GS=29;ESP6500_GTC=13,578,5912;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000350.2:c.635G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000350.2:p.(R212H);ESP6500_MAF=3.407,7.0586,4.644;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=604,12402;CLINVAR_AF_ESP=0.0464;CLINVAR_AF_EXAC=0.04069;CLINVAR_AF_TGP=0.0533;CLINVAR_ALLELEID=105343;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:CN169374|MedGen:CN239309|MedGen:CN239312|MedGen:CN239466|MedGen:CN517202;CLINVAR_CLNDN=Macular_degeneration|not_specified|Cone-Rod_Dystrophy,_Recessive|Stargardt_Disease,_Recessive|Retinitis_Pigmentosa,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.94098927C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:135373|Illumina_Clinical_Services_Laboratory,Illumina:73090|UniProtKB_(protein):P78363#VAR_012507;CLINVAR_GENEINFO=ABCA4:24;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6657239	GT:AD:DP:GQ:PL	0/1:21,26:47:99:655,0,521
chr1	94108497	rs11165073	C	A	1772.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=2.701;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11165073;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|4/49|c.442+80G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2718;p3_1000G_AF=0.542732;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=19509;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.4692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94574053;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1801,150,0
chr1	94111412	rs2297634;99189	T	C	2656.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=2.026;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297634;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|3/49|c.302+26A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2739;p3_1000G_AF=0.546925;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=22434;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.4742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94576968;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2008,2398;ESP6500_AA_AGE=611.4+/-391.8;ESP6500_AA_GTC=478,1052,673;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...24&amp%3Brs...2297634;ESP6500_CDS_SIZES=NM_000350.2:6822;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=46;ESP6500_EA_AC=4145,4455;ESP6500_EA_AGE=579.8+/-391.0;ESP6500_EA_GTC=1022,2101,1177;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000350.2:intron;ESP6500_GL=ABCA4;ESP6500_GRCh38_POSITION=1:94111412;ESP6500_GTC=1500,3153,1850;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000350.2:c.302+26A>G;ESP6500_MAF=48.1977,45.5742,47.3089;ESP6500_TAC=6153,6853;CLINVAR_AF_ESP=0.4731;CLINVAR_ALLELEID=105078;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.94111412T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ABCA4:24;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2297634	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2685,240,0
chr1	94112992	rs4847281;166618	T	C	612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.64;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4847281;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|ABCA4|ABCA4|transcript|NM_000350.2|protein_coding|2/50|c.141A>G|p.Pro47Pro|245/7325|141/6822|47/2273||;p3_1000G_AA=C|||;p3_1000G_AC=4943;p3_1000G_AF=0.987021;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=17472;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94578548;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4247,159;ESP6500_AA_AGE=107.3+/-145.7;ESP6500_AA_GTC=2044,159,0;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...24&amp%3Brs...4847281;ESP6500_CDS_SIZES=NM_000350.2:6822;ESP6500_CG=-11.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=111;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000350.2:coding-synonymous;ESP6500_GL=ABCA4;ESP6500_GRCh38_POSITION=1:94112992;ESP6500_GTC=6343,160,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000350.2:c.141A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000350.2:p.(P47);ESP6500_MAF=0.0116,3.6087,1.2302;ESP6500_TAC=12846,160;CLINVAR_ALLELEID=177452;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.94112992T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:56952;CLINVAR_GENEINFO=ABCA4:24;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4847281	GT:AD:DP:GQ:PL	1/1:0,23:23:69:641,69,0
chr1	94173781	rs1330858	A	G	645.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.03;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1330858;dbSNPBuildID=88;ANN=G|3_prime_UTR_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328664.1|protein_coding|23/23|c.*88T>C|||||88|,G|3_prime_UTR_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328666.1|protein_coding|23/23|c.*88T>C|||||88|,G|3_prime_UTR_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328667.1|protein_coding|22/22|c.*88T>C|||||88|,G|3_prime_UTR_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_004815.3|protein_coding|23/23|c.*88T>C|||||88|,G|3_prime_UTR_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328665.1|protein_coding|22/22|c.*88T>C|||||88|;p3_1000G_AA=G|||;p3_1000G_AC=4868;p3_1000G_AF=0.972045;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=19818;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94639337;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:674,48,0
chr1	94173891	rs1999272	C	T	1864.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=2.262;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1999272;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|ARHGAP29|ARHGAP29|transcript|NM_001328664.1|protein_coding|23/23|c.3764G>A|p.Gly1255Asp|3992/8976|3764/3786|1255/1261||,T|missense_variant|MODERATE|ARHGAP29|ARHGAP29|transcript|NM_001328666.1|protein_coding|23/23|c.3737G>A|p.Gly1246Asp|4106/9090|3737/3759|1246/1252||,T|missense_variant|MODERATE|ARHGAP29|ARHGAP29|transcript|NM_001328667.1|protein_coding|22/22|c.3572G>A|p.Gly1191Asp|3896/8880|3572/3594|1191/1197||,T|missense_variant|MODERATE|ARHGAP29|ARHGAP29|transcript|NM_004815.3|protein_coding|23/23|c.3764G>A|p.Gly1255Asp|4133/9117|3764/3786|1255/1261||,T|missense_variant|MODERATE|ARHGAP29|ARHGAP29|transcript|NM_001328665.1|protein_coding|22/22|c.3572G>A|p.Gly1191Asp|3755/8739|3572/3594|1191/1197||;p3_1000G_AA=T|||;p3_1000G_AC=4727;p3_1000G_AF=0.94389;p3_1000G_AFR_AF=0.798;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=21926;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94639447;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3687,719;ESP6500_AA_AGE=297.0+/-284.5;ESP6500_AA_GTC=1548,591,64;ESP6500_CDS_SIZES=NM_004815.3:3786;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=134;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=4293,7,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004815.3:missense;ESP6500_GL=ARHGAP29;ESP6500_GRCh38_POSITION=1:94173891;ESP6500_GS=94;ESP6500_GTC=5841,598,64;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004815.3:c.3764G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004815.3:p.(G1255D);ESP6500_MAF=0.0814,16.3187,5.582;ESP6500_PH=benign:0.0;ESP6500_TAC=12280,726	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1893,171,0
chr1	94201874	rs5776210	G	GA	105.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.17;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5776210;dbSNPBuildID=137;ANN=GA|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328664.1|protein_coding|11/22|c.1144-18dupT||||||,GA|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328666.1|protein_coding|11/22|c.1144-18dupT||||||,GA|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328667.1|protein_coding|10/21|c.952-18dupT||||||,GA|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_004815.3|protein_coding|11/22|c.1144-18dupT||||||,GA|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328665.1|protein_coding|10/21|c.952-18dupT||||||;p3_1000G_AC=4690;p3_1000G_AF=0.936502;p3_1000G_AFR_AF=0.7973;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=14606;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94667430;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:143,15,0
chr1	94202490	rs1541099	C	T	1013.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1541099;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328664.1|protein_coding|11/22|c.1143+54G>A||||||,T|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328666.1|protein_coding|11/22|c.1143+54G>A||||||,T|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328667.1|protein_coding|10/21|c.951+54G>A||||||,T|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_004815.3|protein_coding|11/22|c.1143+54G>A||||||,T|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328665.1|protein_coding|10/21|c.951+54G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4666;p3_1000G_AF=0.931709;p3_1000G_AFR_AF=0.7579;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=19268;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94668046;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1042,96,0
chr1	94204144	rs755260141	CT	C	21.76	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=-0.524;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328664.1|protein_coding|7/22|c.698-151delA||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328666.1|protein_coding|7/22|c.698-151delA||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328667.1|protein_coding|6/21|c.506-151delA||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_004815.3|protein_coding|7/22|c.698-151delA||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328665.1|protein_coding|6/21|c.506-151delA||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:34:59,0,34
chr1	94205228	rs10443184	T	C	22.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.637;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=-0.431;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10443184;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328664.1|protein_coding|6/22|c.560-30A>G||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328666.1|protein_coding|6/22|c.560-30A>G||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328667.1|protein_coding|5/21|c.368-30A>G||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_004815.3|protein_coding|6/22|c.560-30A>G||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328665.1|protein_coding|5/21|c.368-30A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1750;p3_1000G_AF=0.349441;p3_1000G_AFR_AF=0.2216;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=15249;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.3131;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94670784;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1093,3311;ESP6500_AA_AGE=374.4+/-321.2;ESP6500_AA_GTC=140,813,1249;ESP6500_CDS_SIZES=NM_004815.3:3786;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=31;ESP6500_EA_AC=2905,5695;ESP6500_EA_AGE=441.1+/-359.7;ESP6500_EA_GTC=492,1921,1887;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004815.3:intron;ESP6500_GL=ARHGAP29;ESP6500_GRCh38_POSITION=1:94205228;ESP6500_GTC=632,2734,3136;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004815.3:c.560-30A>G;ESP6500_MAF=33.7791,24.8183,30.7444;ESP6500_TAC=3998,9006	GT:AD:DP:GQ:PL	0/1:5,2:7:51:51,0,137
chr1	94209167	rs6684237	G	A	581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6684237;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328664.1|protein_coding|4/22|c.437+87C>T||||||,A|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328666.1|protein_coding|4/22|c.437+87C>T||||||,A|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328667.1|protein_coding|3/21|c.245+87C>T||||||,A|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_004815.3|protein_coding|4/22|c.437+87C>T||||||,A|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328665.1|protein_coding|3/21|c.245+87C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4868;p3_1000G_AF=0.972045;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=17694;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94674723;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:94209167_G_A:610,48,0
chr1	94209170	rs2274788	T	C	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.5;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.495;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274788;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328664.1|protein_coding|4/22|c.437+84A>G||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328666.1|protein_coding|4/22|c.437+84A>G||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328667.1|protein_coding|3/21|c.245+84A>G||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_004815.3|protein_coding|4/22|c.437+84A>G||||||,C|intron_variant|MODIFIER|ARHGAP29|ARHGAP29|transcript|NM_001328665.1|protein_coding|3/21|c.245+84A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=17779;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94674726;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,9:16:99:0|1:94209167_G_A:299,0,163
chr1	94418421	rs779883031	AGCC	A	16.82	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.36;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.861;SOR=0.412;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs377528117;dbSNPBuildID=144;ANN=A|5_prime_UTR_variant|MODIFIER|ABCD3|ABCD3|transcript|NM_002858.3|protein_coding|1/23|c.-37_-35delCGC|||||35|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|ABCD3|ABCD3|transcript|NM_001122674.1|protein_coding|1/9|c.-37_-35delCGC|||||35|INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,429
chr1	94489667	rs146274993	TAAAAG	T	199.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.776;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.361;SOR=1.27;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs146274993;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|ABCD3|ABCD3|transcript|NM_002858.3|protein_coding|13/22|c.1158-56_1158-52delAAAGA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=36;p3_1000G_AF=0.0071885;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18598;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94955223;p3_1000G_GRCH37_REF=TAAAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,7:17:99:237,0,605
chr1	94515115	rs3118109	C	G	809.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3118109;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|ABCD3|ABCD3|transcript|NM_002858.3|protein_coding|21/22|c.1846-31C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4926;p3_1000G_AF=0.983626;p3_1000G_AFR_AF=0.941;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16453;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94980671;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4204,202;ESP6500_AA_AGE=126.1+/-163.2;ESP6500_AA_GTC=2001,202,0;ESP6500_CDS_SIZES=NM_002858.3:1980;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=120;ESP6500_EA_AC=8592,0;ESP6500_EA_GTC=4296,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002858.3:intron;ESP6500_GL=ABCD3;ESP6500_GRCh38_POSITION=1:94515115;ESP6500_GTC=6297,202,0;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002858.3:c.1846-31C>G;ESP6500_MAF=0.0,4.5847,1.5541;ESP6500_TAC=12796,202	GT:AD:DP:GQ:PL	1/1:0,29:29:87:838,87,0
chr1	94517229	rs662813	A	T	206.85	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs662813;dbSNPBuildID=83;ANN=T|3_prime_UTR_variant|MODIFIER|ABCD3|ABCD3|transcript|NM_002858.3|protein_coding|23/23|c.*100A>T|||||100|;p3_1000G_AA=a|||;p3_1000G_AC=1418;p3_1000G_AF=0.283147;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=16325;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.2217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94982785;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:17:1|1:94517229_A_T:235,17,0
chr1	94517254	rs337592	A	G	151.1	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs337592;dbSNPBuildID=79;ANN=G|3_prime_UTR_variant|MODIFIER|ABCD3|ABCD3|transcript|NM_002858.3|protein_coding|23/23|c.*125A>G|||||125|;p3_1000G_AA=a|||;p3_1000G_AC=551;p3_1000G_AF=0.110024;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=16454;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=94982810;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:11:1|1:94517229_A_T:179,11,0
chr1	94820341	rs536352074	C	CCCCAGA	123.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3842502;dbSNPBuildID=142;ANN=CCCCAGA|5_prime_UTR_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|1/15|c.-106_-105insACCCAG|||||105|INFO_REALIGN_3_PRIME,CCCCAGA|5_prime_UTR_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|1/15|c.-106_-105insACCCAG|||||105|INFO_REALIGN_3_PRIME,CCCCAGA|5_prime_UTR_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|1/15|c.-106_-105insACCCAG|||||105|INFO_REALIGN_3_PRIME,CCCCAGA|5_prime_UTR_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|1/14|c.-106_-105insACCCAG|||||105|INFO_REALIGN_3_PRIME,CCCCAGA|5_prime_UTR_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|1/14|c.-106_-105insACCCAG|||||105|INFO_REALIGN_3_PRIME,CCCCAGA|upstream_gene_variant|MODIFIER|LINC01057|LINC01057|transcript|NR_104131.1|pseudogene||n.-61_-60insTCTGGG|||||61|,CCCCAGA|upstream_gene_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding||c.-4161_-4160insCCCAGA|||||202|,CCCCAGA|upstream_gene_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding||c.-4161_-4160insCCCAGA|||||202|;p3_1000G_AC=2055;p3_1000G_AF=0.410343;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=5180;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.4115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95285897;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:160,12,0
chr1	94820529	rs11165252	G	A	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11165252;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|LINC01057|LINC01057|transcript|NR_104131.1|pseudogene||n.-248C>T|||||248|,A|upstream_gene_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding||c.-3973G>A|||||15|,A|upstream_gene_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding||c.-3973G>A|||||15|,A|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|1/14|c.27+51G>A||||||,A|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|1/14|c.27+51G>A||||||,A|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|1/14|c.27+51G>A||||||,A|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|1/13|c.27+51G>A||||||,A|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|1/13|c.27+51G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2059;p3_1000G_AF=0.411142;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=7479;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.4125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95286085;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:94820529_G_A:630,42,0
chr1	94820538	rs10782992	G	T	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10782992;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|LINC01057|LINC01057|transcript|NR_104131.1|pseudogene||n.-257C>A|||||257|,T|upstream_gene_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding||c.-3964G>T|||||6|,T|upstream_gene_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding||c.-3964G>T|||||6|,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|1/14|c.27+60G>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|1/14|c.27+60G>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|1/14|c.27+60G>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|1/13|c.27+60G>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|1/13|c.27+60G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=7518;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95286094;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:94820529_G_A:630,42,0
chr1	94824749	rs6541372	T	C	106.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.26;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6541372;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|LINC01057|LINC01057|transcript|NR_104131.1|pseudogene||n.-4468A>G|||||4468|,C|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|3/14|c.278+114T>C||||||,C|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|3/14|c.278+114T>C||||||,C|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|3/14|c.278+114T>C||||||,C|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|2/13|c.170+114T>C||||||,C|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|2/13|c.170+114T>C||||||,C|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding|2/13|c.134+114T>C||||||,C|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding|2/13|c.134+114T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4767;p3_1000G_AF=0.951877;p3_1000G_AFR_AF=0.8396;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=17331;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95290305;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:134,9,0
chr1	94825810	rs10874894	A	G	624.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10874894;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|3/14|c.278+1175A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|3/14|c.278+1175A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|3/14|c.278+1175A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|2/13|c.170+1175A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|2/13|c.170+1175A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding|2/13|c.134+1175A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding|2/13|c.134+1175A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4755;p3_1000G_AF=0.949481;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=16988;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95291366;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:653,57,0
chr1	94839884	rs859120	A	G	1342.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859120;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|6/14|c.671-64A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|6/14|c.671-64A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|6/14|c.575-64A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|5/13|c.563-64A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|5/13|c.467-64A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding|5/13|c.431-64A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding|5/13|c.527-64A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2838;p3_1000G_AF=0.566693;p3_1000G_AFR_AF=0.5129;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=19520;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95305440;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1371,114,0
chr1	94864816	rs859098	G	A	1403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859098;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|11/15|c.1312G>A|p.Val438Ile|1422/2397|1312/1962|438/653||,A|missense_variant|MODERATE|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|11/15|c.1312G>A|p.Val438Ile|1422/2394|1312/1959|438/652||,A|missense_variant|MODERATE|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|11/15|c.1216G>A|p.Val406Ile|1326/2298|1216/1863|406/620||,A|missense_variant|MODERATE|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|10/14|c.1204G>A|p.Val402Ile|1314/2289|1204/1854|402/617||,A|missense_variant|MODERATE|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|10/14|c.1108G>A|p.Val370Ile|1218/2193|1108/1758|370/585||,A|missense_variant|MODERATE|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding|10/14|c.1072G>A|p.Val358Ile|1261/2236|1072/1722|358/573||,A|missense_variant|MODERATE|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding|10/14|c.1168G>A|p.Val390Ile|1357/2332|1168/1818|390/605||;p3_1000G_AA=G|||;p3_1000G_AC=3779;p3_1000G_AF=0.754593;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=19098;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.7813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95330372;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2413,1993;ESP6500_AA_AGE=616.2+/-392.7;ESP6500_AA_GTC=648,1117,438;ESP6500_CDS_SIZES=NM_152369.4:1818,NM_001258343.1:1758,NM_001258342.1:1854,NM_001258341.1:1863,NM_001258340.1:1959,NM_001114106.2:1962;ESP6500_CG=5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=202;ESP6500_EA_AC=6427,2173;ESP6500_EA_AGE=713.0+/-405.9;ESP6500_EA_GTC=2393,1641,266;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152369.4:missense,NM_001258343.1:missense,NM_001258342.1:missense,NM_001258341.1:missense,NM_001258340.1:missense,NM_001114106.2:missense;ESP6500_GL=SLC44A3;ESP6500_GRCh38_POSITION=1:94864816;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=3041,2758,704;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152369.4:c.1168G>A,NM_001258343.1:c.1108G>A,NM_001258342.1:c.1204G>A,NM_001258341.1:c.1216G>A,NM_001258340.1:c.1312G>A,NM_001114106.2:c.1312G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152369.4:p.(V390I),NM_001258343.1:p.(V370I),NM_001258342.1:p.(V402I),NM_001258341.1:p.(V406I),NM_001258340.1:p.(V438I),NM_001114106.2:p.(V438I);ESP6500_MAF=25.2674,45.2338,32.0314;ESP6500_PH=possibly-damaging:0.848,possibly-damaging:0.848,possibly-damaging:0.848,possibly-damaging:0.848,possibly-damaging:0.848,possibly-damaging:0.848;ESP6500_TAC=8840,4166	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1432,144,0
chr1	94867258	rs74104711	C	T	1139.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs74104711;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|11/14|c.1396-73C>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|11/14|c.1396-76C>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|11/14|c.1300-76C>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|10/13|c.1288-73C>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|10/13|c.1192-73C>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding|10/13|c.1156-73C>T||||||,T|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding|10/13|c.1252-73C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1219;p3_1000G_AF=0.243411;p3_1000G_AFR_AF=0.2829;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=21596;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.1829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95332814;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1168,102,0
chr1	94892540	rs859063	A	G	682.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859063;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|CNN3|CNN3|transcript|NM_001839.4|protein_coding||c.*5202T>C|||||4409|,G|downstream_gene_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286056.1|protein_coding||c.*5202T>C|||||4409|,G|downstream_gene_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286055.1|protein_coding||c.*5202T>C|||||4409|,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001114106.2|protein_coding|14/14|c.1857+23A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258340.1|protein_coding|14/14|c.1854+23A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258341.1|protein_coding|14/14|c.1758+23A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258342.1|protein_coding|13/13|c.1749+23A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001258343.1|protein_coding|13/13|c.1653+23A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_001301079.1|protein_coding|13/13|c.1617+23A>G||||||,G|intron_variant|MODIFIER|SLC44A3|SLC44A3|transcript|NM_152369.4|protein_coding|13/13|c.1713+23A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2267;p3_1000G_AF=0.452676;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=19710;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.6014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95358096;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1625,2781;ESP6500_AA_AGE=498.6+/-364.2;ESP6500_AA_GTC=298,1029,876;ESP6500_CDS_SIZES=NM_152369.4:1818,NM_001258343.1:1758,NM_001258342.1:1854,NM_001258341.1:1863,NM_001258340.1:1959,NM_001114106.2:1962;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=106;ESP6500_EA_AC=5166,3434;ESP6500_EA_AGE=637.0+/-399.2;ESP6500_EA_GTC=1565,2036,699;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152369.4:intron,NM_001258343.1:intron,NM_001258342.1:intron,NM_001258341.1:intron,NM_001258340.1:intron,NM_001114106.2:intron;ESP6500_GL=SLC44A3;ESP6500_GRCh38_POSITION=1:94892540;ESP6500_GTC=1863,3065,1575;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152369.4:c.1713+23A>G,NM_001258343.1:c.1653+23A>G,NM_001258342.1:c.1749+23A>G,NM_001258341.1:c.1758+23A>G,NM_001258340.1:c.1854+23A>G,NM_001114106.2:c.1857+23A>G;ESP6500_MAF=39.9302,36.8815,47.7856;ESP6500_TAC=6791,6215	GT:AD:DP:GQ:PL	1/1:0,22:22:66:711,66,0
chr1	94901552	rs10605235;rs138718825;rs869223528;rs536409493;rs556473600	ACC	A	628.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.32;SOR=2.712;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs138718825,rs10605235;dbSNPBuildID=134,147,131;ANN=A|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001839.4|protein_coding|5/6|c.501+115_501+116delGG||||||,A|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286056.1|protein_coding|5/6|c.378+115_378+116delGG||||||,A|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286055.1|protein_coding|4/5|c.363+115_363+116delGG||||||;p3_1000G_AC=2168;p3_1000G_AF=0.432907;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=12939;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95367108;p3_1000G_GRCH37_REF=ACC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:51:666,51,0
chr1	94901580	rs859059	G	A	896.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859059;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001839.4|protein_coding|5/6|c.501+89C>T||||||,A|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286056.1|protein_coding|5/6|c.378+89C>T||||||,A|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286055.1|protein_coding|4/5|c.363+89C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4966;p3_1000G_AF=0.991613;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=10982;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95367136;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:925,84,0
chr1	94902093	rs859058	T	C	696.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859058;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001839.4|protein_coding|4/6|c.384+28A>G||||||,C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286056.1|protein_coding|4/6|c.261+28A>G||||||,C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286055.1|protein_coding|3/5|c.247-308A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2209;p3_1000G_AF=0.441094;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=16819;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95367649;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1469,2937;ESP6500_AA_AGE=472.6+/-356.4;ESP6500_AA_GTC=260,949,994;ESP6500_CDS_SIZES=NM_001839.3:990;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=106;ESP6500_EA_AC=5165,3435;ESP6500_EA_AGE=638.1+/-399.3;ESP6500_EA_GTC=1566,2033,701;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001839.3:intron;ESP6500_GL=CNN3;ESP6500_GRCh38_POSITION=1:94902093;ESP6500_GTC=1826,2982,1695;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001839.3:c.384+28A>G;ESP6500_MAF=39.9419,33.3409,48.9928;ESP6500_TAC=6634,6372	GT:AD:DP:GQ:PL	1/1:0,19:19:57:725,57,0
chr1	94902338	rs859057	A	C	419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859057;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001839.4|protein_coding|3/6|c.247-80T>G||||||,C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286056.1|protein_coding|3/6|c.124-80T>G||||||,C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286055.1|protein_coding|3/5|c.247-553T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3601;p3_1000G_AF=0.71905;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=17087;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.8519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95367894;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:448,39,0
chr1	94903055	rs183066341	T	C	113.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.76;ReadPosRankSum=-0.253;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs183066341;dbSNPBuildID=135;ANN=C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001839.4|protein_coding|3/6|c.246+67A>G||||||,C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286056.1|protein_coding|3/6|c.123+67A>G||||||,C|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286055.1|protein_coding|3/5|c.246+67A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=13;p3_1000G_AF=0.00259585;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17799;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95368611;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:25:142,0,25
chr1	94903655	rs859054	T	G	362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.91;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859054;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001839.4|protein_coding|1/6|c.58-131A>C||||||,G|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286056.1|protein_coding|1/6|c.-66-131A>C||||||,G|intron_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286055.1|protein_coding|1/5|c.58-131A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4266;p3_1000G_AF=0.851837;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=21363;p3_1000G_EAS_AF=0.9435;p3_1000G_EUR_AF=0.8479;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95369211;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:391,30,0
chr1	94927037	rs11540278	C	T	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11540278;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|CNN3|CNN3|transcript|NM_001839.4|protein_coding|1/7|c.-143G>A|||||143|,T|5_prime_UTR_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286055.1|protein_coding|1/6|c.-143G>A|||||143|,T|upstream_gene_variant|MODIFIER|LOC729970|LOC729970|transcript|NR_033998.1|pseudogene||n.-991C>T|||||991|,T|upstream_gene_variant|MODIFIER|CNN3|CNN3|transcript|NM_001286056.1|protein_coding||c.-23579G>A|||||1229|;p3_1000G_AA=C|||;p3_1000G_AC=420;p3_1000G_AF=0.0838658;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=9312;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.1441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95392593;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:58:85,0,58
chr1	95244265	rs259358	T	C	1815.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=1.654;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs259358;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_015485.4|protein_coding|2/4|c.140T>C|p.Val47Ala|216/1235|140/804|47/267||,C|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_001128142.1|protein_coding|2/3|c.140T>C|p.Val47Ala|216/1136|140/588|47/195||,C|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_001199682.1|protein_coding|2/4|c.140T>C|p.Val47Ala|216/1188|140/603|47/200||,C|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_001278247.1|protein_coding|3/5|c.95T>C|p.Val32Ala|349/1321|95/558|32/185||,C|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_001278248.1|protein_coding|3/5|c.95T>C|p.Val32Ala|349/1368|95/759|32/252||,C|3_prime_UTR_variant|MODIFIER|TMEM56-RWDD3|TMEM56-RWDD3|transcript|NM_001199691.1|protein_coding|8/8|c.*15T>C|||||15|,C|intron_variant|MODIFIER|RWDD3|RWDD3|transcript|NR_103484.1|pseudogene|2/4|n.196-300T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|RWDD3|RWDD3|transcript|NR_103483.1|pseudogene|2/4|n.216T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4931;p3_1000G_AF=0.984625;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19717;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95709821;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3598,164;ESP6500_AA_GTC=1721,156,4;ESP6500_CDS_SIZES=NM_015485.4:804,NM_001199691.1:606,NM_001199682.1:603,NM_001128142.1:588;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=123;ESP6500_EA_AC=8230,4;ESP6500_EA_GTC=4113,4,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015485.4:missense,NM_001199691.1:utr-3,NM_001199682.1:missense,NM_001128142.1:missense;ESP6500_GL=RWDD3,TMEM56-RWDD3;ESP6500_GRCh38_POSITION=1:95244265;ESP6500_GS=64,.,64,64;ESP6500_GTC=5834,160,4;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015485.4:c.140T>C,NM_001199691.1:c.*15T>C,NM_001199682.1:c.140T>C,NM_001128142.1:c.140T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015485.4:p.(V47A),.,NM_001199682.1:p.(V47A),NM_001128142.1:p.(V47A);ESP6500_MAF=0.0486,4.3594,1.4005;ESP6500_PH=benign:0.001,.,benign:0.001,benign:0.001;ESP6500_TAC=11828,168	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1844,159,0
chr1	95244383	rs2296308	T	G	2475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.91;SOR=0.72;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296308;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_015485.4|protein_coding|2/4|c.258T>G|p.Asn86Lys|334/1235|258/804|86/267||,G|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_001128142.1|protein_coding|2/3|c.258T>G|p.Asn86Lys|334/1136|258/588|86/195||,G|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_001199682.1|protein_coding|2/4|c.258T>G|p.Asn86Lys|334/1188|258/603|86/200||,G|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_001278247.1|protein_coding|3/5|c.213T>G|p.Asn71Lys|467/1321|213/558|71/185||,G|missense_variant|MODERATE|RWDD3|RWDD3|transcript|NM_001278248.1|protein_coding|3/5|c.213T>G|p.Asn71Lys|467/1368|213/759|71/252||,G|3_prime_UTR_variant|MODIFIER|TMEM56-RWDD3|TMEM56-RWDD3|transcript|NM_001199691.1|protein_coding|8/8|c.*133T>G|||||133|,G|intron_variant|MODIFIER|RWDD3|RWDD3|transcript|NR_103484.1|pseudogene|2/4|n.196-182T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|RWDD3|RWDD3|transcript|NR_103483.1|pseudogene|2/4|n.334T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4093;p3_1000G_AF=0.817292;p3_1000G_AFR_AF=0.6823;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=19422;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.8728;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95709939;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9346;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2790,1072;ESP6500_AA_GTC=1005,780,146;ESP6500_CDS_SIZES=NM_015485.4:804,NM_001199691.1:606,NM_001199682.1:603,NM_001128142.1:588;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=7172,1114;ESP6500_EA_GTC=3102,968,73;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015485.4:missense,NM_001199691.1:utr-3,NM_001199682.1:missense,NM_001128142.1:missense;ESP6500_GL=RWDD3,TMEM56-RWDD3;ESP6500_GRCh38_POSITION=1:95244383;ESP6500_GS=94,.,94,94;ESP6500_GTC=4107,1748,219;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015485.4:c.258T>G,NM_001199691.1:c.*133T>G,NM_001199682.1:c.258T>G,NM_001128142.1:c.258T>G;ESP6500_HGVS_PROTEIN_VAR=NM_015485.4:p.(N86K),.,NM_001199682.1:p.(N86K),NM_001128142.1:p.(N86K);ESP6500_MAF=13.4444,27.7576,17.9947;ESP6500_PH=benign:0.0,.,benign:0.0,benign:0.0;ESP6500_TAC=9962,2186	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2504,219,0
chr1	96723535	rs3762411	G	A	1387.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3762411;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300987.1|protein_coding|1/14|c.-115-29G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300985.1|protein_coding|1/13|c.9-29G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300986.1|protein_coding|1/13|c.33-29G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300988.1|protein_coding|1/13|c.9-29G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300989.1|protein_coding|1/13|c.9-29G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300990.1|protein_coding|1/12|c.-72-29G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_021190.3|protein_coding|1/13|c.9-29G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NR_125357.1|pseudogene|1/12|n.269-29G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NR_125356.1|pseudogene|1/12|n.161-29G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3164;p3_1000G_AF=0.631789;p3_1000G_AFR_AF=0.7352;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=18019;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.5368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97189091;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3170,1236;ESP6500_AA_AGE=427.2+/-341.4;ESP6500_AA_GTC=1126,918,159;ESP6500_CDS_SIZES=NM_021190.2:1596;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=158;ESP6500_EA_AC=4535,4065;ESP6500_EA_AGE=559.3+/-387.4;ESP6500_EA_GTC=1178,2179,943;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021190.2:intron;ESP6500_GL=PTBP2;ESP6500_GRCh38_POSITION=1:96723535;ESP6500_GTC=2304,3097,1102;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021190.2:c.9-29G>A;ESP6500_MAF=47.2674,28.0527,40.7581;ESP6500_TAC=7705,5301	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:96723535_G_A:1416,128,0
chr1	96723732	rs3762410	T	A	385.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3762410;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300987.1|protein_coding|2/14|c.-85+138T>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300985.1|protein_coding|2/13|c.39+138T>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300986.1|protein_coding|2/13|c.63+138T>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300988.1|protein_coding|2/13|c.39+138T>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300989.1|protein_coding|2/13|c.39+138T>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300990.1|protein_coding|2/12|c.-42+138T>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_021190.3|protein_coding|2/13|c.39+138T>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NR_125357.1|pseudogene|2/12|n.299+138T>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NR_125356.1|pseudogene|2/12|n.191+138T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1673;p3_1000G_AF=0.334065;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=17085;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.325;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97189288;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:414,33,0
chr1	96813248	rs273886	G	A	288.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs273886;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300987.1|protein_coding|14/14|c.1515-25G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300985.1|protein_coding|13/13|c.1482-25G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300986.1|protein_coding|13/13|c.1491-25G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300988.1|protein_coding|13/13|c.1482-28G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300989.1|protein_coding|13/13|c.1467-25G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_001300990.1|protein_coding|12/12|c.1311-25G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NM_021190.3|protein_coding|13/13|c.1467-28G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NR_125357.1|pseudogene|12/12|n.1693-25G>A||||||,A|intron_variant|MODIFIER|PTBP2|PTBP2|transcript|NR_125356.1|pseudogene|12/12|n.1585-28G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3160;p3_1000G_AF=0.63099;p3_1000G_AFR_AF=0.7345;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=15779;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.5358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97278804;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3148,1252;ESP6500_AA_GTC=1125,898,177;ESP6500_CDS_SIZES=NM_021190.2:1596;ESP6500_CG=0.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=47;ESP6500_EA_AC=4527,4065;ESP6500_EA_GTC=1178,2171,947;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021190.2:intron;ESP6500_GL=PTBP2;ESP6500_GRCh38_POSITION=1:96813248;ESP6500_GTC=2303,3069,1124;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021190.2:c.1467-28G>A;ESP6500_MAF=47.3115,28.4545,40.9252;ESP6500_TAC=7675,5317	GT:AD:DP:GQ:PL	1/1:0,10:10:30:317,30,0
chr1	97079215	rs290855	T	C	528.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs290855;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|DPYD|DPYD|transcript|NM_000110.3|protein_coding|22/22|c.2908-69A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4186;p3_1000G_AF=0.835863;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=18313;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.826;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97544771;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8947;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:557,42,0
chr1	97082275	rs290854	G	A	1070.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=2.432;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs290854;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|DPYD|DPYD|transcript|NM_000110.3|protein_coding|22/22|c.2907+55C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18542;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97547831;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1099,107,0
chr1	97306085	rs377021830	CAT	C	319.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.44;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=1.25;SOR=0.976;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs377021830;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|DPYD|DPYD|transcript|NM_000110.3|protein_coding|17/22|c.2179+90_2179+91delAT||||||,C|intron_variant|MODIFIER|DPYD-AS1|DPYD-AS1|transcript|NR_046590.1|pseudogene|2/4|n.129-103_129-102delAT||||||;p3_1000G_AC=8;p3_1000G_AF=0.00159744;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17666;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97771641;p3_1000G_GRCH37_REF=CAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,9:16:99:357,0,304
chr1	97306391	rs7556439	C	A	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.623;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-0.716;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7556439;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|DPYD|DPYD|transcript|NM_000110.3|protein_coding|16/22|c.2059-94G>T||||||,A|intron_variant|MODIFIER|DPYD-AS1|DPYD-AS1|transcript|NR_046590.1|pseudogene|3/4|n.249+82C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1274;p3_1000G_AF=0.254393;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=18877;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.3161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97771947;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:213,0,262
chr1	97373460	rs1890138	A	G	1785.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=1.453;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1890138;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|DPYD|DPYD|transcript|NM_000110.3|protein_coding|16/22|c.2058+101T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1594;p3_1000G_AF=0.318291;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=17520;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.2356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97839016;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1814,171,0
chr1	97515686	rs2811178;100090	T	C	53.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2811178;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DPYD|DPYD|transcript|NM_000110.3|protein_coding|13/22|c.1740+40A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3264;p3_1000G_AF=0.651757;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=14948;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97981242;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2734,1642;ESP6500_AA_GTC=894,946,348;ESP6500_CDS_SIZES=NM_000110.3:3078;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=13;ESP6500_EA_AC=5008,3540;ESP6500_EA_GTC=1503,2002,769;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000110.3:intron;ESP6500_GL=DPYD;ESP6500_GRCh38_POSITION=1:97515686;ESP6500_GTC=2397,2948,1117;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000110.3:c.1740+40A>G;ESP6500_MAF=41.4132,37.5229,40.0959;ESP6500_TAC=7742,5182;CLINVAR_ALLELEID=105967;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.97515686T>C;CLINVAR_CLNREVSTAT=no_assertion_provided;CLINVAR_CLNSIG=not_provided;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DPYD:1806;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=0;CLINVAR_RS=2811178	GT:AD:DP:GQ:PL	1/1:0,2:2:6:81,6,0
chr1	98661836	rs9728148	T	C	185.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9728148;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|SNX7|SNX7|transcript|NM_015976.4|protein_coding|1/9|c.105T>C|p.Ser35Ser|157/1777|105/1356|35/451||,C|synonymous_variant|LOW|SNX7|SNX7|transcript|NM_152238.3|protein_coding|1/8|c.105T>C|p.Ser35Ser|157/1612|105/1191|35/396||,C|non_coding_transcript_exon_variant|MODIFIER|SNX7|SNX7|transcript|NR_033716.1|pseudogene|1/9|n.157T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4985;p3_1000G_AF=0.995407;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=8546;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99127392;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:214,18,0
chr1	98685079	rs9433747	G	A	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.576;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.47;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=-0.349;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9433747;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|SNX7|SNX7|transcript|NM_015976.4|protein_coding|2/8|c.363+12G>A||||||,A|intron_variant|MODIFIER|SNX7|SNX7|transcript|NM_152238.3|protein_coding|2/7|c.363+12G>A||||||,A|intron_variant|MODIFIER|SNX7|SNX7|transcript|NR_033716.1|pseudogene|3/8|n.535+12G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4299;p3_1000G_AF=0.858427;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=17531;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99150635;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3013,1389;ESP6500_AA_AGE=428.0+/-341.7;ESP6500_AA_GTC=1024,965,212;ESP6500_CDS_SIZES=NM_152238.3:1191,NM_015976.4:1356;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=36;ESP6500_EA_AC=8289,307;ESP6500_EA_AGE=107.6+/-168.3;ESP6500_EA_GTC=3999,291,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152238.3:intron,NM_015976.4:intron;ESP6500_GL=SNX7;ESP6500_GRCh38_POSITION=1:98685079;ESP6500_GTC=5023,1256,220;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152238.3:c.363+12G>A,NM_015976.4:c.363+12G>A;ESP6500_MAF=3.5714,31.5538,13.0482;ESP6500_TAC=11302,1696	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,14:39:99:1|0:98685078_G_T:347,0,790
chr1	98691078	rs35296149	T	A	132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.28;ReadPosRankSum=-1.699;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35296149;dbSNPBuildID=126;ANN=A|missense_variant|MODERATE|SNX7|SNX7|transcript|NM_015976.4|protein_coding|3/9|c.367T>A|p.Ser123Thr|419/1777|367/1356|123/451||,A|missense_variant|MODERATE|SNX7|SNX7|transcript|NM_152238.3|protein_coding|3/8|c.367T>A|p.Ser123Thr|419/1612|367/1191|123/396||,A|non_coding_transcript_exon_variant|MODIFIER|SNX7|SNX7|transcript|NR_033716.1|pseudogene|4/9|n.539T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=453;p3_1000G_AF=0.0904553;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=16149;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99156634;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=61,4345;ESP6500_AA_AGE=57.4+/-93.9;ESP6500_AA_GTC=2,57,2144;ESP6500_CDS_SIZES=NM_152238.3:1191,NM_015976.4:1356;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=100;ESP6500_EA_AC=109,8491;ESP6500_EA_AGE=57.9+/-119.4;ESP6500_EA_GTC=0,109,4191;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152238.3:missense,NM_015976.4:missense;ESP6500_GL=SNX7;ESP6500_GRCh38_POSITION=1:98691078;ESP6500_GS=58,58;ESP6500_GTC=2,166,6335;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_152238.3:c.367T>A,NM_015976.4:c.367T>A;ESP6500_HGVS_PROTEIN_VAR=NM_152238.3:p.(S123T),NM_015976.4:p.(S123T);ESP6500_MAF=1.2674,1.3845,1.3071;ESP6500_PH=benign:0.027,benign:0.027;ESP6500_TAC=170,12836	GT:AD:DP:GQ:PL	0/1:22,9:31:99:161,0,477
chr1	98760071	rs2019213	G	A	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.191;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.429;SOR=0.678;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2019213;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|SNX7|SNX7|transcript|NM_015976.4|protein_coding|9/9|c.1296G>A|p.Glu432Glu|1348/1777|1296/1356|432/451||,A|synonymous_variant|LOW|SNX7|SNX7|transcript|NM_152238.3|protein_coding|8/8|c.1131G>A|p.Glu377Glu|1183/1612|1131/1191|377/396||,A|non_coding_transcript_exon_variant|MODIFIER|SNX7|SNX7|transcript|NR_033716.1|pseudogene|9/9|n.1315G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4384;p3_1000G_AF=0.875399;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=17067;p3_1000G_EAS_AF=0.6657;p3_1000G_EUR_AF=0.9871;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99225627;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3972,434;ESP6500_AA_AGE=210.5+/-231.0;ESP6500_AA_GTC=1795,382,26;ESP6500_CDS_SIZES=NM_152238.3:1191,NM_015976.4:1356;ESP6500_CG=-3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=154;ESP6500_EA_AC=8485,115;ESP6500_EA_AGE=60.6+/-122.4;ESP6500_EA_GTC=4186,113,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152238.3:coding-synonymous,NM_015976.4:coding-synonymous;ESP6500_GL=SNX7;ESP6500_GRCh38_POSITION=1:98760071;ESP6500_GTC=5981,495,27;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152238.3:c.1131G>A,NM_015976.4:c.1296G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152238.3:p.(E377),NM_015976.4:p.(E432);ESP6500_MAF=1.3372,9.8502,4.2211;ESP6500_TAC=12457,549	GT:AD:DP:GQ:PL	0/1:13,15:28:99:329,0,359
chr1	98922072	rs79819201;rs869061765;~rs34854879	T	TA	1296.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.19;SOR=2.737;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34854879,rs79819201;dbSNPBuildID=131,147;ANN=TA|intron_variant|MODIFIER|PLPPR5|PLPPR5|transcript|NM_001037317.1|protein_coding|3/5|c.622-15dupT||||||,TA|intron_variant|MODIFIER|PLPPR5|PLPPR5|transcript|NM_001010861.2|protein_coding|3/5|c.622-15dupT||||||;p3_1000G_AA=?|AAAAAAAA|AAAAAAAAA|unsure;p3_1000G_AC=3473;p3_1000G_AF=0.69349;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=20098;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.7525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99387628;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=INDEL;ESP6500_AA_AC=2723,0,1543;ESP6500_AA_GTC=884,0,955,0,0,294;ESP6500_CDS_SIZES=NM_001037317.1:966,NM_001037317.1:966,NM_001010861.2:951,NM_001010861.2:951;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=55;ESP6500_EA_AC=6394,1,1859;ESP6500_EA_GTC=2463,1,1467,0,0,196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001037317.1:intron,NM_001037317.1:intron,NM_001010861.2:intron,NM_001010861.2:intron;ESP6500_GL=LPPR5;ESP6500_GRCh38_POSITION=1:98922072;ESP6500_GTC=3347,1,2422,0,0,490;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_001037317.1:c.622-15_622-14insTA,NM_001037317.1:c.622-15_622-14insT,NM_001010861.2:c.622-15_622-14insTA,NM_001010861.2:c.622-15_622-14insT;ESP6500_MAF=22.5345,36.1697,27.1805;ESP6500_TAC=9117,1,3402	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1334,138,0
chr1	98953392	rs377156706	T	TGTGTGA	172.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.27;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs377156706;dbSNPBuildID=138;ANN=TGTGTGA|intron_variant|MODIFIER|PLPPR5|PLPPR5|transcript|NM_001037317.1|protein_coding|2/5|c.371-73_371-72insTCACAC||||||,TGTGTGA|intron_variant|MODIFIER|PLPPR5|PLPPR5|transcript|NM_001010861.2|protein_coding|2/5|c.371-73_371-72insTCACAC||||||;p3_1000G_AC=3215;p3_1000G_AF=0.641973;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=15508;p3_1000G_EAS_AF=0.9097;p3_1000G_EUR_AF=0.4602;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99418948;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:14:170,14,0
chr1	99004351	rs141995032	C	T	500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs141995032;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|PLPPR5|PLPPR5|transcript|NM_001037317.1|protein_coding|1/5|c.237+84G>A||||||,T|intron_variant|MODIFIER|PLPPR5|PLPPR5|transcript|NM_001010861.2|protein_coding|1/5|c.237+84G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|LOC100129620|LOC100129620|transcript|NR_033940.1|pseudogene|1/3|n.76C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=39;p3_1000G_AF=0.00778754;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13979;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99469907;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:529,45,0
chr1	99004713	rs12057990	T	C	858.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.69;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12057990;dbSNPBuildID=120;ANN=C|5_prime_UTR_variant|MODIFIER|PLPPR5|PLPPR5|transcript|NM_001037317.1|protein_coding|1/6|c.-42A>G|||||42|,C|5_prime_UTR_variant|MODIFIER|PLPPR5|PLPPR5|transcript|NM_001010861.2|protein_coding|1/6|c.-42A>G|||||42|,C|intron_variant|MODIFIER|LOC100129620|LOC100129620|transcript|NR_033940.1|pseudogene|1/2|n.370+68T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1280;p3_1000G_AF=0.255591;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=7058;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99470269;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=484,3168;ESP6500_AA_GTC=34,416,1376;ESP6500_CDS_SIZES=NM_001037317.1:966,NM_001010861.2:951;ESP6500_CG=0.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=8;ESP6500_EA_AC=1125,6033;ESP6500_EA_GTC=99,927,2553;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001037317.1:utr-5,NM_001010861.2:utr-5;ESP6500_GL=LPPR5;ESP6500_GRCh38_POSITION=1:99004713;ESP6500_GTC=133,1343,3929;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001037317.1:c.-42A>G,NM_001010861.2:c.-42A>G;ESP6500_MAF=15.7167,13.253,14.8844;ESP6500_TAC=1609,9201	GT:AD:DP:GQ:PL	1/1:0,24:24:72:887,72,0
chr1	99288075	rs35121076	G	A	1023.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.07;SOR=0.702;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35121076;dbSNPBuildID=126;ANN=A|synonymous_variant|LOW|PLPPR4|PLPPR4|transcript|NM_014839.4|protein_coding|2/7|c.333G>A|p.Pro111Pro|491/5022|333/2292|111/763||,A|synonymous_variant|LOW|PLPPR4|PLPPR4|transcript|NM_001166252.1|protein_coding|2/6|c.333G>A|p.Pro111Pro|491/4848|333/2118|111/705||;p3_1000G_AA=G|||;p3_1000G_AC=376;p3_1000G_AF=0.0750799;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=18744;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99753631;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=220,4186;ESP6500_AA_AGE=134.1+/-170.4;ESP6500_AA_GTC=4,212,1987;ESP6500_CDS_SIZES=NM_014839.4:2292,NM_001166252.1:2118;ESP6500_CG=-7.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=159;ESP6500_EA_AC=277,8323;ESP6500_EA_AGE=104.6+/-165.6;ESP6500_EA_GTC=8,261,4031;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014839.4:coding-synonymous,NM_001166252.1:coding-synonymous;ESP6500_GL=LPPR4;ESP6500_GRCh38_POSITION=1:99288075;ESP6500_GTC=12,473,6018;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014839.4:c.333G>A,NM_001166252.1:c.333G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014839.4:p.(P111),NM_001166252.1:p.(P111);ESP6500_MAF=3.2209,4.9932,3.8213;ESP6500_TAC=497,12509	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1052,0,1167
chr1	99686887	rs1338576	T	C	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-1.015;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1338576;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|MIR548N|MIR548N|transcript|NR_031666.1|pseudogene|1/4|n.27+26040A>G||||||,C|intron_variant|MODIFIER|PALMD|PALMD|transcript|NM_017734.4|protein_coding|4/7|c.367-43T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2222;p3_1000G_AF=0.44369;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=16846;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.5348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100152443;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1644,2688;ESP6500_AA_GTC=320,1004,842;ESP6500_CDS_SIZES=NM_017734.4:1656;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=34;ESP6500_EA_AC=4897,3653;ESP6500_EA_GTC=1395,2107,773;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017734.4:intron;ESP6500_GL=PALMD;ESP6500_GRCh38_POSITION=1:99686887;ESP6500_GTC=1715,3111,1615;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017734.4:c.367-43T>C;ESP6500_MAF=42.7251,37.9501,49.2237;ESP6500_TAC=6541,6341	GT:AD:DP:GQ:PL	0/1:10,11:21:99:364,0,281
chr1	99715537	rs117665513	T	C	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.43;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.82;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117665513;dbSNPBuildID=132;ANN=C|upstream_gene_variant|MODIFIER|MIR548N|MIR548N|transcript|NR_031666.1|pseudogene||n.-2584A>G|||||2584|,C|intron_variant|MODIFIER|FRRS1|FRRS1|transcript|NM_001013660.2|protein_coding|12/16|c.1323+49A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=41;p3_1000G_AF=0.0081869;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19097;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100181093;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3,4403;ESP6500_AA_AGE=6.2+/-15.9;ESP6500_AA_GTC=0,3,2200;ESP6500_CDS_SIZES=NM_001013660.2:1881;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=38;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013660.2:intron;ESP6500_GL=FRRS1;ESP6500_GRCh38_POSITION=1:99715537;ESP6500_GTC=0,3,6500;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001013660.2:c.1323+49A>G;ESP6500_MAF=0.0,0.0681,0.0231;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PL	0/1:13,13:26:99:332,0,333
chr1	99717328	rs6696586	C	T	804.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6696586;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|MIR548N|MIR548N|transcript|NR_031666.1|pseudogene||n.-4375G>A|||||4375|,T|intron_variant|MODIFIER|FRRS1|FRRS1|transcript|NM_001013660.2|protein_coding|11/16|c.1236+82G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2041;p3_1000G_AF=0.407548;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=25136;p3_1000G_EAS_AF=0.3423;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100182884;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:833,75,0
chr1	99719726	rs6679013	G	T	220.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6679013;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|FRRS1|FRRS1|transcript|NM_001013660.2|protein_coding|9/16|c.1007-79C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2021;p3_1000G_AF=0.403554;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=16393;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100185282;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:249,21,0
chr1	99738015	rs7548709	A	G	361.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7548709;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FRRS1|FRRS1|transcript|NM_001013660.2|protein_coding|7/16|c.759+71T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2796;p3_1000G_AF=0.558307;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=17025;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100203571;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:390,27,0
chr1	99738041	rs7513916	G	A	401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7513916;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FRRS1|FRRS1|transcript|NM_001013660.2|protein_coding|7/16|c.759+45C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2796;p3_1000G_AF=0.558307;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=19084;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100203597;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3680,726;ESP6500_AA_AGE=756.6+/-412.7;ESP6500_AA_GTC=1536,608,59;ESP6500_CDS_SIZES=NM_001013660.2:1881;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=66;ESP6500_EA_AC=2914,5686;ESP6500_EA_AGE=453.1+/-363.1;ESP6500_EA_GTC=504,1906,1890;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013660.2:intron;ESP6500_GL=FRRS1;ESP6500_GRCh38_POSITION=1:99738041;ESP6500_GTC=2040,2514,1949;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001013660.2:c.759+45C>T;ESP6500_MAF=33.8837,16.4775,49.3003;ESP6500_TAC=6594,6412	GT:AD:DP:GQ:PL	1/1:0,12:12:36:430,36,0
chr1	99738092	rs7537296	C	T	560.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7537296;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|FRRS1|FRRS1|transcript|NM_001013660.2|protein_coding|7/17|c.753G>A|p.Gln251Gln|1355/2678|753/1881|251/626||;p3_1000G_AA=c|||;p3_1000G_AC=2796;p3_1000G_AF=0.558307;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=19702;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.3082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100203648;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3680,726;ESP6500_AA_AGE=757.7+/-412.7;ESP6500_AA_GTC=1536,608,59;ESP6500_CDS_SIZES=NM_001013660.2:1881;ESP6500_CG=-1.3;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=112;ESP6500_EA_AC=2915,5685;ESP6500_EA_AGE=454.1+/-363.4;ESP6500_EA_GTC=505,1905,1890;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001013660.2:coding-synonymous;ESP6500_GL=FRRS1;ESP6500_GRCh38_POSITION=1:99738092;ESP6500_GTC=2041,2513,1949;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001013660.2:c.753G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001013660.2:p.(Q251);ESP6500_MAF=33.8953,16.4775,49.2926;ESP6500_TAC=6595,6411	GT:AD:DP:GQ:PL	1/1:0,17:17:51:589,51,0
chr1	99738137	rs7514021	G	A	949.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.93;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7514021;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|FRRS1|FRRS1|transcript|NM_001013660.2|protein_coding|7/17|c.708C>T|p.Ser236Ser|1310/2678|708/1881|236/626||;p3_1000G_AA=A|||;p3_1000G_AC=2796;p3_1000G_AF=0.558307;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18333;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.3082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100203693;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3680,726;ESP6500_AA_AGE=302.1+/-287.2;ESP6500_AA_GTC=1536,608,59;ESP6500_CDS_SIZES=NM_001013660.2:1881;ESP6500_CG=-7.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=119;ESP6500_EA_AC=2915,5685;ESP6500_EA_AGE=671.2+/-402.8;ESP6500_EA_GTC=505,1905,1890;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013660.2:coding-synonymous;ESP6500_GL=FRRS1;ESP6500_GRCh38_POSITION=1:99738137;ESP6500_GTC=2041,2513,1949;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001013660.2:c.708C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001013660.2:p.(S236);ESP6500_MAF=33.8953,16.4775,49.2926;ESP6500_TAC=6595,6411	GT:AD:DP:GQ:PL	1/1:0,34:34:99:978,102,0
chr1	99748835	rs1416237	T	A	290.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1416237;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|FRRS1|FRRS1|transcript|NM_001013660.2|protein_coding|2/16|c.-1+62A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2798;p3_1000G_AF=0.558706;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=17514;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100214391;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:319,27,0
chr1	99851209	rs663848	C	T	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.394;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=-0.549;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs663848;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000028.2|protein_coding|2/33|c.82+85C>T||||||,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000642.2|protein_coding|2/33|c.82+85C>T||||||,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000643.2|protein_coding|2/33|c.82+85C>T||||||,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000644.2|protein_coding|2/33|c.82+85C>T||||||,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000646.2|protein_coding|1/33|c.-110+85C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3819;p3_1000G_AF=0.76258;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=16916;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100316765;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:97:192,0,97
chr1	99861470	rs2307129;256750	C	T	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.804;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=7.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=-0.897;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2307129;dbSNPBuildID=100;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|AGL|AGL|transcript|NM_000645.2|protein_coding|1/32|c.-2C>T||||||,T|5_prime_UTR_variant|MODIFIER|AGL|AGL|transcript|NM_000645.2|protein_coding|1/32|c.-2C>T|||||2|,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000028.2|protein_coding|2/33|c.83-33C>T||||||,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000642.2|protein_coding|2/33|c.83-33C>T||||||,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000643.2|protein_coding|2/33|c.83-33C>T||||||,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000644.2|protein_coding|2/33|c.83-33C>T||||||,T|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000646.2|protein_coding|2/33|c.35-33C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1138;p3_1000G_AF=0.227236;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=18362;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.1779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100327026;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1676,2726;ESP6500_AA_AGE=485.5+/-360.3;ESP6500_AA_GTC=333,1010,858;ESP6500_CDS_SIZES=NM_000646.2:4551,NM_000645.2:4548,NM_000644.2:4599,NM_000643.2:4599,NM_000642.2:4599,NM_000028.2:4599;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=1467,7129;ESP6500_EA_AGE=274.9+/-291.5;ESP6500_EA_GTC=130,1207,2961;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000646.2:intron,NM_000645.2:utr-5,NM_000644.2:intron,NM_000643.2:intron,NM_000642.2:intron,NM_000028.2:intron;ESP6500_GL=AGL;ESP6500_GRCh38_POSITION=1:99861470;ESP6500_GTC=463,2217,3819;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000646.2:c.35-33C>T,NM_000645.2:c.-2C>T,NM_000644.2:c.83-33C>T,NM_000643.2:c.83-33C>T,NM_000642.2:c.83-33C>T,NM_000028.2:c.83-33C>T;ESP6500_MAF=17.0661,38.0736,24.1806;ESP6500_TAC=3143,9855;CLINVAR_AF_ESP=0.2418;CLINVAR_AF_EXAC=0.19623;CLINVAR_AF_TGP=0.2272;CLINVAR_ALLELEID=250042;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.99861470C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGL:178;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2307129	GT:AD:DP:GQ:PL	0/1:11,3:14:42:42,0,366
chr1	99864333	rs535461	G	C	245.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.277;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.537;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs535461;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000028.2|protein_coding|4/33|c.461-53G>C||||||,C|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000642.2|protein_coding|4/33|c.461-53G>C||||||,C|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000643.2|protein_coding|4/33|c.461-53G>C||||||,C|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000644.2|protein_coding|4/33|c.461-53G>C||||||,C|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000646.2|protein_coding|4/33|c.413-53G>C||||||,C|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000645.2|protein_coding|2/31|c.410-53G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3704;p3_1000G_AF=0.739617;p3_1000G_AFR_AF=0.8797;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=17189;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.6471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100329889;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:274,0,283
chr1	99870805	rs2230306;198432	C	T	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.732;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.944;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230306;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|AGL|AGL|transcript|NM_000028.2|protein_coding|7/34|c.894C>T|p.Leu298Leu|1372/7449|894/4599|298/1532||,T|synonymous_variant|LOW|AGL|AGL|transcript|NM_000642.2|protein_coding|7/34|c.894C>T|p.Leu298Leu|1294/7371|894/4599|298/1532||,T|synonymous_variant|LOW|AGL|AGL|transcript|NM_000643.2|protein_coding|7/34|c.894C>T|p.Leu298Leu|1092/7169|894/4599|298/1532||,T|synonymous_variant|LOW|AGL|AGL|transcript|NM_000644.2|protein_coding|7/34|c.894C>T|p.Leu298Leu|1032/7109|894/4599|298/1532||,T|synonymous_variant|LOW|AGL|AGL|transcript|NM_000646.2|protein_coding|7/34|c.846C>T|p.Leu282Leu|1105/7182|846/4551|282/1516||,T|synonymous_variant|LOW|AGL|AGL|transcript|NM_000645.2|protein_coding|5/32|c.843C>T|p.Leu281Leu|1105/7182|843/4548|281/1515||;p3_1000G_AA=C|||;p3_1000G_AC=3819;p3_1000G_AF=0.76258;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=15999;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100336361;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3931,397;ESP6500_AA_GTC=1795,341,28;ESP6500_CDS_SIZES=NM_000646.2:4551,NM_000645.2:4548,NM_000644.2:4599,NM_000643.2:4599,NM_000642.2:4599,NM_000028.2:4599;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=37;ESP6500_EA_AC=5957,2605;ESP6500_EA_GTC=2062,1833,386;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000646.2:coding-synonymous,NM_000645.2:coding-synonymous,NM_000644.2:coding-synonymous,NM_000643.2:coding-synonymous,NM_000642.2:coding-synonymous,NM_000028.2:coding-synonymous;ESP6500_GL=AGL;ESP6500_GRCh38_POSITION=1:99870805;ESP6500_GTC=3857,2174,414;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000646.2:c.846C>T,NM_000645.2:c.843C>T,NM_000644.2:c.894C>T,NM_000643.2:c.894C>T,NM_000642.2:c.894C>T,NM_000028.2:c.894C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000646.2:p.(L282),NM_000645.2:p.(L281),NM_000644.2:p.(L298),NM_000643.2:p.(L298),NM_000642.2:p.(L298),NM_000028.2:p.(L298);ESP6500_MAF=30.4251,9.1728,23.2894;ESP6500_TAC=9888,3002;CLINVAR_ALLELEID=195593;CLINVAR_CLNDISDB=MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED_CT:66937008|MedGen:CN169374;CLINVAR_CLNDN=Glycogen_storage_disease_type_III|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.99870805C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1865;CLINVAR_GENEINFO=AGL:178;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2230306	GT:AD:DP:GQ:PL	0/1:5,5:10:99:136,0,112
chr1	99874669	rs634880;256751	G	A	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.507;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.295;SOR=0.837;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs634880;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000028.2|protein_coding|7/33|c.959-18G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000642.2|protein_coding|7/33|c.959-18G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000643.2|protein_coding|7/33|c.959-18G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000644.2|protein_coding|7/33|c.959-18G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000646.2|protein_coding|7/33|c.911-18G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000645.2|protein_coding|5/31|c.908-18G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3723;p3_1000G_AF=0.743411;p3_1000G_AFR_AF=0.8691;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=15076;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.6859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100340225;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3687,719;ESP6500_AA_AGE=295.9+/-283.9;ESP6500_AA_GTC=1540,607,56;ESP6500_CDS_SIZES=NM_000646.2:4551,NM_000645.2:4548,NM_000644.2:4599,NM_000643.2:4599,NM_000642.2:4599,NM_000028.2:4599;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=54;ESP6500_EA_AC=6044,2554;ESP6500_EA_AGE=410.8+/-350.3;ESP6500_EA_GTC=2106,1832,361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000646.2:intron,NM_000645.2:intron,NM_000644.2:intron,NM_000643.2:intron,NM_000642.2:intron,NM_000028.2:intron;ESP6500_GL=AGL;ESP6500_GRCh38_POSITION=1:99874669;ESP6500_GTC=3646,2439,417;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000646.2:c.911-18G>A,NM_000645.2:c.908-18G>A,NM_000644.2:c.959-18G>A,NM_000643.2:c.959-18G>A,NM_000642.2:c.959-18G>A,NM_000028.2:c.959-18G>A;ESP6500_MAF=29.7046,16.3187,25.1692;ESP6500_TAC=9731,3273;CLINVAR_ALLELEID=250046;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.99874669G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGL:178;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=634880	GT:AD:DP:GQ:PL	0/1:18,23:41:99:535,0,425
chr1	99888119	rs555929;256730	G	A	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.328;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=-0.118;SOR=0.637;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs555929;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000028.2|protein_coding|21/33|c.2812+11G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000642.2|protein_coding|21/33|c.2812+11G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000643.2|protein_coding|21/33|c.2812+11G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000644.2|protein_coding|21/33|c.2812+11G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000646.2|protein_coding|21/33|c.2764+11G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000645.2|protein_coding|19/31|c.2761+11G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3411;p3_1000G_AF=0.68111;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=17608;p3_1000G_EAS_AF=0.7073;p3_1000G_EUR_AF=0.6889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100353675;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2629,1777;ESP6500_AA_AGE=524.4+/-371.3;ESP6500_AA_GTC=799,1031,373;ESP6500_CDS_SIZES=NM_000646.2:4551,NM_000645.2:4548,NM_000644.2:4599,NM_000643.2:4599,NM_000642.2:4599,NM_000028.2:4599;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=103;ESP6500_EA_AC=5888,2712;ESP6500_EA_AGE=432.5+/-357.1;ESP6500_EA_GTC=2014,1860,426;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000646.2:intron,NM_000645.2:intron,NM_000644.2:intron,NM_000643.2:intron,NM_000642.2:intron,NM_000028.2:intron;ESP6500_GL=AGL;ESP6500_GRCh38_POSITION=1:99888119;ESP6500_GTC=2813,2891,799;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000646.2:c.2764+11G>A,NM_000645.2:c.2761+11G>A,NM_000644.2:c.2812+11G>A,NM_000643.2:c.2812+11G>A,NM_000642.2:c.2812+11G>A,NM_000028.2:c.2812+11G>A;ESP6500_MAF=31.5349,40.3314,34.5148;ESP6500_TAC=8517,4489;CLINVAR_ALLELEID=250058;CLINVAR_CLNDISDB=MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED_CT:66937008|MedGen:CN169374;CLINVAR_CLNDN=Glycogen_storage_disease_type_III|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.99888119G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1880;CLINVAR_GENEINFO=AGL:178;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=555929	GT:AD:DP:GQ:PL	0/1:17,11:28:99:226,0,384
chr1	99892547	rs3753494;256734	C	T	579.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.532;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.325;SOR=0.745;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3753494;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|AGL|AGL|transcript|NM_000028.2|protein_coding|24/34|c.3199C>T|p.Pro1067Ser|3677/7449|3199/4599|1067/1532||,T|missense_variant|MODERATE|AGL|AGL|transcript|NM_000642.2|protein_coding|24/34|c.3199C>T|p.Pro1067Ser|3599/7371|3199/4599|1067/1532||,T|missense_variant|MODERATE|AGL|AGL|transcript|NM_000643.2|protein_coding|24/34|c.3199C>T|p.Pro1067Ser|3397/7169|3199/4599|1067/1532||,T|missense_variant|MODERATE|AGL|AGL|transcript|NM_000644.2|protein_coding|24/34|c.3199C>T|p.Pro1067Ser|3337/7109|3199/4599|1067/1532||,T|missense_variant|MODERATE|AGL|AGL|transcript|NM_000646.2|protein_coding|24/34|c.3151C>T|p.Pro1051Ser|3410/7182|3151/4551|1051/1516||,T|missense_variant|MODERATE|AGL|AGL|transcript|NM_000645.2|protein_coding|22/32|c.3148C>T|p.Pro1050Ser|3410/7182|3148/4548|1050/1515||;p3_1000G_AA=C|||;p3_1000G_AC=554;p3_1000G_AF=0.110623;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=15854;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0.1551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100358103;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=557,3849;ESP6500_AA_AGE=249.0+/-256.6;ESP6500_AA_GTC=36,485,1682;ESP6500_CDS_SIZES=NM_000646.2:4551,NM_000645.2:4548,NM_000644.2:4599,NM_000643.2:4599,NM_000642.2:4599,NM_000028.2:4599;ESP6500_CG=5.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=96;ESP6500_EA_AC=1257,7343;ESP6500_EA_AGE=251.5+/-278.0;ESP6500_EA_GTC=96,1065,3139;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000646.2:missense,NM_000645.2:missense,NM_000644.2:missense,NM_000643.2:missense,NM_000642.2:missense,NM_000028.2:missense;ESP6500_GL=AGL;ESP6500_GRCh38_POSITION=1:99892547;ESP6500_GS=74,74,74,74,74,74;ESP6500_GTC=132,1550,4821;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000646.2:c.3151C>T,NM_000645.2:c.3148C>T,NM_000644.2:c.3199C>T,NM_000643.2:c.3199C>T,NM_000642.2:c.3199C>T,NM_000028.2:c.3199C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000646.2:p.(P1051S),NM_000645.2:p.(P1050S),NM_000644.2:p.(P1067S),NM_000643.2:p.(P1067S),NM_000642.2:p.(P1067S),NM_000028.2:p.(P1067S);ESP6500_MAF=14.6163,12.6419,13.9474;ESP6500_PH=benign:0.146,benign:0.146,benign:0.146,benign:0.146,benign:0.146,benign:0.146;ESP6500_TAC=1814,11192;CLINVAR_AF_ESP=0.1395;CLINVAR_AF_EXAC=0.13613;CLINVAR_AF_TGP=0.1106;CLINVAR_ALLELEID=250062;CLINVAR_CLNDISDB=MedGen:C0017922,OMIM:232400,Orphanet:ORPHA308684,SNOMED_CT:66937008|MedGen:CN169374;CLINVAR_CLNDN=Glycogen_storage_disease_type_III|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.99892547C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1893|UniProtKB_(protein):P35573#VAR_020389;CLINVAR_GENEINFO=AGL:178;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3753494	GT:AD:DP:GQ:PL	0/1:38,30:68:99:608,0,852
chr1	99892644	rs594249;256735	G	A	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.894;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.33;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs594249;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000028.2|protein_coding|24/33|c.3259+37G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000642.2|protein_coding|24/33|c.3259+37G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000643.2|protein_coding|24/33|c.3259+37G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000644.2|protein_coding|24/33|c.3259+37G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000646.2|protein_coding|24/33|c.3211+37G>A||||||,A|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000645.2|protein_coding|22/31|c.3208+37G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3413;p3_1000G_AF=0.68151;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=17270;p3_1000G_EAS_AF=0.7073;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100358200;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7577;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2634,1772;ESP6500_AA_AGE=503.5+/-365.6;ESP6500_AA_GTC=801,1032,370;ESP6500_CDS_SIZES=NM_000646.2:4551,NM_000645.2:4548,NM_000644.2:4599,NM_000643.2:4599,NM_000642.2:4599,NM_000028.2:4599;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=44;ESP6500_EA_AC=5883,2715;ESP6500_EA_AGE=424.8+/-354.8;ESP6500_EA_GTC=2013,1857,429;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000646.2:intron,NM_000645.2:intron,NM_000644.2:intron,NM_000643.2:intron,NM_000642.2:intron,NM_000028.2:intron;ESP6500_GL=AGL;ESP6500_GRCh38_POSITION=1:99892644;ESP6500_GTC=2814,2889,799;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000646.2:c.3211+37G>A,NM_000645.2:c.3208+37G>A,NM_000644.2:c.3259+37G>A,NM_000643.2:c.3259+37G>A,NM_000642.2:c.3259+37G>A,NM_000028.2:c.3259+37G>A;ESP6500_MAF=31.5771,40.2179,34.5048;ESP6500_TAC=8517,4487;CLINVAR_ALLELEID=250063;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.99892644G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGL:178;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=594249	GT:AD:DP:GQ:PL	0/1:14,9:23:99:267,0,489
chr1	99900890	rs1491160354;rs35956186;rs397863854	GTT	G	52.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.598;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35956186;dbSNPBuildID=137,151,138;ANN=G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000028.2|protein_coding|26/33|c.3588+43_3588+44delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000642.2|protein_coding|26/33|c.3588+43_3588+44delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000643.2|protein_coding|26/33|c.3588+43_3588+44delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000644.2|protein_coding|26/33|c.3588+43_3588+44delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000646.2|protein_coding|26/33|c.3540+43_3540+44delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000645.2|protein_coding|24/31|c.3537+43_3537+44delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,3:6:57:90,0,57
chr1	99902916	rs972661455	A	G	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-1.534;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000028.2|protein_coding|27/33|c.3700+122A>G||||||,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000642.2|protein_coding|27/33|c.3700+122A>G||||||,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000643.2|protein_coding|27/33|c.3700+122A>G||||||,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000644.2|protein_coding|27/33|c.3700+122A>G||||||,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000646.2|protein_coding|27/33|c.3652+122A>G||||||,G|intron_variant|MODIFIER|AGL|AGL|transcript|NM_000645.2|protein_coding|25/31|c.3649+122A>G||||||	GT:AD:DP:GQ:PL	0/1:5,3:8:99:99,0,164
chr1	100080689	rs2271082	A	G	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.836;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.285;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.761;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271082;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|SASS6|SASS6|transcript|NM_194292.2|protein_coding||c.*4639T>C|||||2857|,G|downstream_gene_variant|MODIFIER|SASS6|SASS6|transcript|NM_001304829.1|protein_coding||c.*4639T>C|||||2857|,G|intron_variant|MODIFIER|MFSD14A|MFSD14A|transcript|NM_033055.2|protein_coding|11/11|c.1266+30A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=296;p3_1000G_AF=0.0591054;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=18891;p3_1000G_EAS_AF=0.1151;p3_1000G_EUR_AF=0.0099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100546245;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=313,4093;ESP6500_AA_AGE=166.5+/-197.7;ESP6500_AA_GTC=12,289,1902;ESP6500_CDS_SIZES=NM_033055.2:1473;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=101;ESP6500_EA_AC=93,8507;ESP6500_EA_AGE=52.7+/-113.3;ESP6500_EA_GTC=0,93,4207;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033055.2:intron;ESP6500_GL=HIAT1;ESP6500_GRCh38_POSITION=1:100080689;ESP6500_GTC=12,382,6109;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033055.2:c.1266+30A>G;ESP6500_MAF=1.0814,7.1039,3.1216;ESP6500_TAC=406,12600	GT:AD:DP:GQ:PL	0/1:12,8:20:99:205,0,322
chr1	100085243	rs144334982	A	C	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.165;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.036;SOR=0.65;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144334982;dbSNPBuildID=134;ANN=C|3_prime_UTR_variant|MODIFIER|SASS6|SASS6|transcript|NM_194292.2|protein_coding|17/17|c.*85T>G|||||85|,C|3_prime_UTR_variant|MODIFIER|SASS6|SASS6|transcript|NM_001304829.1|protein_coding|16/16|c.*85T>G|||||85|,C|downstream_gene_variant|MODIFIER|MFSD14A|MFSD14A|transcript|NM_033055.2|protein_coding||c.*3034A>C|||||1870|;p3_1000G_AA=A|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17591;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100550799;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,23:41:99:620,0,455
chr1	100133310	rs472498	G	A	2446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=1.877;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs472498;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|TRMT13|TRMT13|transcript|NM_019083.2|protein_coding|1/11|c.142G>A|p.Ala48Thr|161/3143|142/1446|48/481||,A|upstream_gene_variant|MODIFIER|SASS6|SASS6|transcript|NM_194292.2|protein_coding||c.-496C>T|||||215|,A|upstream_gene_variant|MODIFIER|SASS6|SASS6|transcript|NM_001304829.1|protein_coding||c.-12869C>T|||||215|,A|non_coding_transcript_exon_variant|MODIFIER|TRMT13|TRMT13|transcript|NR_135078.1|pseudogene|1/11|n.161G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3788;p3_1000G_AF=0.75639;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=17012;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.8519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100598866;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2012,2394;ESP6500_AA_AGE=541.7+/-375.8;ESP6500_AA_GTC=478,1056,669;ESP6500_CDS_SIZES=NM_019083.2:1446;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=60;ESP6500_EA_AC=7271,1329;ESP6500_EA_AGE=746.5+/-407.3;ESP6500_EA_GTC=3080,1111,109;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019083.2:missense;ESP6500_GL=TRMT13;ESP6500_GRCh38_POSITION=1:100133310;ESP6500_GS=58;ESP6500_GTC=3558,2167,778;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019083.2:c.142G>A;ESP6500_HGVS_PROTEIN_VAR=NM_019083.2:p.(A48T);ESP6500_MAF=15.4535,45.665,28.6252;ESP6500_PH=benign:0.196;ESP6500_TAC=9283,3723	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,55:55:99:1|1:100133310_G_A:2475,166,0
chr1	100133311	rs687513	C	T	2446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=1.877;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs687513;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|TRMT13|TRMT13|transcript|NM_019083.2|protein_coding|1/11|c.143C>T|p.Ala48Val|162/3143|143/1446|48/481||,T|upstream_gene_variant|MODIFIER|SASS6|SASS6|transcript|NM_194292.2|protein_coding||c.-497G>A|||||216|,T|upstream_gene_variant|MODIFIER|SASS6|SASS6|transcript|NM_001304829.1|protein_coding||c.-12870G>A|||||216|,T|non_coding_transcript_exon_variant|MODIFIER|TRMT13|TRMT13|transcript|NR_135078.1|pseudogene|1/11|n.162C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3788;p3_1000G_AF=0.75639;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=17017;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.8519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100598867;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2009,2397;ESP6500_AA_AGE=540.8+/-375.6;ESP6500_AA_GTC=478,1053,672;ESP6500_CDS_SIZES=NM_019083.2:1446;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=59;ESP6500_EA_AC=7268,1332;ESP6500_EA_AGE=746.7+/-407.3;ESP6500_EA_GTC=3080,1108,112;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019083.2:missense;ESP6500_GL=TRMT13;ESP6500_GRCh38_POSITION=1:100133311;ESP6500_GS=64;ESP6500_GTC=3558,2161,784;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019083.2:c.143C>T;ESP6500_HGVS_PROTEIN_VAR=NM_019083.2:p.(A48V);ESP6500_MAF=15.4884,45.5969,28.6714;ESP6500_PH=benign:0.327;ESP6500_TAC=9277,3729	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,55:55:99:1|1:100133310_G_A:2475,166,0
chr1	100152331	rs2784177	C	T	446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2784177;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|TRMT13|TRMT13|transcript|NM_019083.2|protein_coding||c.*3511C>T|||||1833|,T|downstream_gene_variant|MODIFIER|TRMT13|TRMT13|transcript|NR_135078.1|pseudogene||n.*1833C>T|||||1833|,T|intron_variant|MODIFIER|LRRC39|LRRC39|transcript|NM_001256385.1|protein_coding|9/10|c.952+54G>A||||||,T|intron_variant|MODIFIER|LRRC39|LRRC39|transcript|NM_001256386.1|protein_coding|9/9|c.952+54G>A||||||,T|intron_variant|MODIFIER|LRRC39|LRRC39|transcript|NM_001256387.1|protein_coding|8/8|c.952+54G>A||||||,T|intron_variant|MODIFIER|LRRC39|LRRC39|transcript|NM_144620.3|protein_coding|9/9|c.952+54G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4521;p3_1000G_AF=0.902756;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=18984;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.9195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100617887;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:475,42,0
chr1	100206504	rs12021720;128885	T	C	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=0.752;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12021720;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|DBT|DBT|transcript|NM_001918.3|protein_coding|9/11|c.1150A>G|p.Ser384Gly|1183/10815|1150/1449|384/482||;p3_1000G_AA=C|||;p3_1000G_AC=4466;p3_1000G_AF=0.891773;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.9481;p3_1000G_AN=5008;p3_1000G_DP=15527;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.9215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100672060;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3414,992;ESP6500_AA_AGE=370.8+/-319.7;ESP6500_AA_GTC=1319,776,108;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...1629&amp%3Brs...12021720|http://omim.org/entry/248610#0008;ESP6500_CDS_SIZES=NM_001918.3:1449;ESP6500_CG=4.4;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=188;ESP6500_EA_AC=7761,839;ESP6500_EA_AGE=193.4+/-239.1;ESP6500_EA_GTC=3503,755,42;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001918.3:missense;ESP6500_GL=DBT;ESP6500_GRCh38_POSITION=1:100206504;ESP6500_GS=56;ESP6500_GTC=4822,1531,150;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001918.3:c.1150A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001918.3:p.(S384G);ESP6500_MAF=9.7558,22.5148,14.0781;ESP6500_PH=benign:0.0;ESP6500_TAC=11175,1831;CLINVAR_ALLELEID=134332;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.100206504T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DBT:1629;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12021720	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1035,99,0
chr1	100215037	rs11431894	C	CT	111.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.63;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11431894;dbSNPBuildID=135;ANN=CT|intron_variant|MODIFIER|DBT|DBT|transcript|NM_001918.3|protein_coding|6/10|c.773-55dupA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2510;p3_1000G_AF=0.501198;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=17332;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.5308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100680593;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:149,18,0
chr1	100249898	rs3806235	G	A	959.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=1.839;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3806235;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|DBT|DBT|transcript|NM_001918.3|protein_coding||c.-78C>T|||||45|,A|intergenic_region|MODIFIER|DBT-RTCA-AS1|DBT-RTCA-AS1|intergenic_region|DBT-RTCA-AS1|||n.100249898G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3631;p3_1000G_AF=0.72504;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=18420;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100715454;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:988,93,0
chr1	100267651	rs60634058	G	GT	55.37	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.674;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs60634058;dbSNPBuildID=137;ANN=GT|upstream_gene_variant|MODIFIER|RTCA-AS1|RTCA-AS1|transcript|NR_110434.1|pseudogene||n.-1478dupA|||||1478|,GT|upstream_gene_variant|MODIFIER|RTCA-AS1|RTCA-AS1|transcript|NR_110435.1|pseudogene||n.-1478dupA|||||1478|,GT|intron_variant|MODIFIER|RTCA|RTCA|transcript|NM_001130841.1|protein_coding|3/11|c.185+127dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RTCA|RTCA|transcript|NM_003729.3|protein_coding|2/10|c.147-487dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3711;p3_1000G_AF=0.741014;p3_1000G_AFR_AF=0.677;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=19008;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.7773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100733207;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,5:6:8:92,0,8
chr1	100268403	rs397760226;rs397786177;rs5776503	G	GT	262.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.89;SOR=5.136;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5776503;dbSNPBuildID=137,138,138;ANN=GT|upstream_gene_variant|MODIFIER|RTCA-AS1|RTCA-AS1|transcript|NR_110434.1|pseudogene||n.-2230dupA|||||2230|,GT|upstream_gene_variant|MODIFIER|RTCA-AS1|RTCA-AS1|transcript|NR_110435.1|pseudogene||n.-2230dupA|||||2230|,GT|intron_variant|MODIFIER|RTCA|RTCA|transcript|NM_001130841.1|protein_coding|4/11|c.329+120dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RTCA|RTCA|transcript|NM_003729.3|protein_coding|3/10|c.290+120dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=20225;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100733959;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:36:300,36,0
chr1	100277114	rs4495726	A	G	202.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.97;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4495726;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|MIR553|MIR553|transcript|NR_030279.1|pseudogene||n.-4127A>G|||||4127|,G|intron_variant|MODIFIER|RTCA|RTCA|transcript|NM_001130841.1|protein_coding|8/11|c.780-144A>G||||||,G|intron_variant|MODIFIER|RTCA|RTCA|transcript|NM_003729.3|protein_coding|7/10|c.741-144A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3857;p3_1000G_AF=0.770168;p3_1000G_AFR_AF=0.4682;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=19031;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.8718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100742670;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:231,21,0
chr1	100285177	rs397803798;rs58046505;rs763298862	AGTTTT	A	912.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=2.737;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58046505;dbSNPBuildID=135,144,138;ANN=A|downstream_gene_variant|MODIFIER|MIR553|MIR553|transcript|NR_030279.1|pseudogene||n.*3870_*3874delGTTTT|||||3870|,A|intron_variant|MODIFIER|RTCA|RTCA|transcript|NM_001130841.1|protein_coding|9/11|c.839-25_839-21delGTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RTCA|RTCA|transcript|NM_003729.3|protein_coding|8/10|c.800-25_800-21delGTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,22:22:66:950,66,0
chr1	100351973	rs1491422202;rs35169146	AGT	A	303.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.75;SOR=2.494;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35291093,rs35169146;dbSNPBuildID=126,151;ANN=A|upstream_gene_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_033312.2|protein_coding||c.-981_-980delGT|||||493|,A|upstream_gene_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_033313.2|protein_coding||c.-981_-980delGT|||||493|,A|upstream_gene_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319212.1|protein_coding||c.-116023_-116022delGT|||||493|,A|upstream_gene_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319210.1|protein_coding||c.-981_-980delGT|||||493|,A|upstream_gene_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_003672.3|protein_coding||c.-981_-980delGT|||||493|,A|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319211.1|protein_coding|1/14|c.-125-1759_-125-1758delTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2260;p3_1000G_AF=0.451278;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=14244;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.4215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100817529;p3_1000G_GRCH37_REF=AGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:28:287,28,0
chr1	100352908	rs594529	T	C	353.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs594529;dbSNPBuildID=83;ANN=C|5_prime_UTR_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_033312.2|protein_coding|1/15|c.-47T>C|||||47|,C|5_prime_UTR_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_033313.2|protein_coding|1/11|c.-47T>C|||||47|,C|5_prime_UTR_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319212.1|protein_coding|1/14|c.-838T>C|||||115089|,C|5_prime_UTR_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319210.1|protein_coding|1/17|c.-47T>C|||||47|,C|5_prime_UTR_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_003672.3|protein_coding|1/16|c.-47T>C|||||47|,C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319211.1|protein_coding|1/14|c.-125-854T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4925;p3_1000G_AF=0.983427;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=14130;p3_1000G_EAS_AF=0.9812;p3_1000G_EUR_AF=0.9801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100818464;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9755;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4388,18;ESP6500_AA_AGE=25.3+/-52.1;ESP6500_AA_GTC=2185,18,0;ESP6500_CDS_SIZES=NM_033313.2:1152,NM_033312.2:1872,NM_003672.3:1785;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=47;ESP6500_EA_AC=8416,184;ESP6500_EA_AGE=82.9+/-145.4;ESP6500_EA_GTC=4119,178,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033313.2:utr-5,NM_033312.2:utr-5,NM_003672.3:utr-5;ESP6500_GL=CDC14A;ESP6500_GRCh38_POSITION=1:100352908;ESP6500_GTC=6304,196,3;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033313.2:c.-47T>C,NM_033312.2:c.-47T>C,NM_003672.3:c.-47T>C;ESP6500_MAF=2.1395,0.4085,1.5531;ESP6500_TAC=12804,202	GT:AD:DP:GQ:PL	1/1:0,12:12:36:382,36,0
chr1	100467832	rs560431	T	C	266.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs560431;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_033312.2|protein_coding|9/14|c.839-124T>C||||||,C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319211.1|protein_coding|9/14|c.665-124T>C||||||,C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_033313.2|protein_coding|9/10|c.839-124T>C||||||,C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319212.1|protein_coding|8/13|c.-41-124T>C||||||,C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319210.1|protein_coding|9/16|c.839-124T>C||||||,C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_003672.3|protein_coding|9/15|c.839-124T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4100;p3_1000G_AF=0.81869;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=21984;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.993;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100933388;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:295,24,0
chr1	100495863	rs2270692	A	G	357.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270692;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_033312.2|protein_coding|12/14|c.1251-139A>G||||||,G|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319211.1|protein_coding|12/14|c.1077-139A>G||||||,G|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319212.1|protein_coding|11/13|c.372-139A>G||||||,G|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319210.1|protein_coding|12/16|c.1251-139A>G||||||,G|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_003672.3|protein_coding|12/15|c.1251-139A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4551;p3_1000G_AF=0.908746;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=19809;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100961419;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:386,33,0
chr1	100496223	rs149672640;rs540495933;rs767072844	ATT	A	108.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs149672640;dbSNPBuildID=134,144,142;ANN=A|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_033312.2|protein_coding|13/14|c.1298+188_1298+189delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319211.1|protein_coding|13/14|c.1124+188_1124+189delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319212.1|protein_coding|12/13|c.419+188_419+189delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319210.1|protein_coding|13/16|c.1298+188_1298+189delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_003672.3|protein_coding|13/15|c.1298+188_1298+189delTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4541;p3_1000G_AF=0.906749;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=19141;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100961779;p3_1000G_GRCH37_REF=ATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:145,12,0
chr1	100504790	rs10875295	T	C	1288.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.489;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10875295;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319210.1|protein_coding|15/16|c.1756-24T>C||||||,C|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_003672.3|protein_coding|15/15|c.1755+5528T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2472;p3_1000G_AF=0.49361;p3_1000G_AFR_AF=0.6241;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=17040;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.4702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100970346;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3691;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,49:81:99:1317,0,761
chr1	100518067	rs3767839	G	A	427.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3767839;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_001319210.1|protein_coding|16/16|c.*47-184G>A||||||,A|intron_variant|MODIFIER|CDC14A|CDC14A|transcript|NM_003672.3|protein_coding|15/15|c.1756-184G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4433;p3_1000G_AF=0.885184;p3_1000G_AFR_AF=0.652;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=16688;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100983623;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:456,39,0
chr1	100539534	rs2809819	G	A	397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.991;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.46;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-0.409;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2809819;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|GPR88|GPR88|transcript|NM_022049.2|protein_coding|2/2|c.568G>A|p.Val190Ile|972/3465|568/1155|190/384||;p3_1000G_AA=G|||;p3_1000G_AC=2420;p3_1000G_AF=0.483227;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=8433;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.5129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101005090;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=423,2103;ESP6500_AA_GTC=82,259,922;ESP6500_CDS_SIZES=NM_022049.2:1155;ESP6500_CG=1.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=2;ESP6500_EA_AC=2534,3168;ESP6500_EA_GTC=653,1228,970;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022049.2:missense;ESP6500_GL=GPR88;ESP6500_GRCh38_POSITION=1:100539534;ESP6500_GS=29;ESP6500_GTC=735,1487,1892;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022049.2:c.568G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022049.2:p.(V190I);ESP6500_MAF=44.4405,16.7458,35.9383;ESP6500_PH=benign:0.0;ESP6500_TAC=2957,5271	GT:AD:DP:GQ:PL	0/1:26,23:49:99:426,0,705
chr1	100723420	rs766298599	TA	T	93.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.77;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_001078.3|protein_coding|3/8|c.661+94delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_001199834.1|protein_coding|3/8|c.475+94delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_080682.2|protein_coding|3/7|c.661+94delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,5:5:15:131,15,0
chr1	100729409	rs398103086;rs776290522	G	GT	314.92	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.461;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.52;ReadPosRankSum=0.749;SOR=0.776;INS;HET;VARTYPE=INS;dbSNP138_ID=rs68164684;dbSNPBuildID=144,138;ANN=GT|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_001078.3|protein_coding|5/8|c.1204+38dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_001199834.1|protein_coding|5/8|c.1018+38dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_080682.2|protein_coding|4/7|c.929-1778dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,15:17:5:351,0,5
chr1	100734423	rs3176875	A	G	358.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.83;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3176875;dbSNPBuildID=105;ANN=G|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_001078.3|protein_coding|7/8|c.1793-79A>G||||||,G|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_001199834.1|protein_coding|7/8|c.1607-79A>G||||||,G|intron_variant|MODIFIER|VCAM1|VCAM1|transcript|NM_080682.2|protein_coding|6/7|c.1517-79A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4578;p3_1000G_AF=0.914137;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=21305;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101199979;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:387,27,0
chr1	100738271	rs3176879	G	A	1118.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3176879;dbSNPBuildID=105;ANN=A|synonymous_variant|LOW|VCAM1|VCAM1|transcript|NM_001078.3|protein_coding|9/9|c.2208G>A|p.Lys736Lys|2429/3204|2208/2220|736/739||,A|synonymous_variant|LOW|VCAM1|VCAM1|transcript|NM_001199834.1|protein_coding|9/9|c.2022G>A|p.Lys674Lys|2243/3018|2022/2034|674/677||,A|synonymous_variant|LOW|VCAM1|VCAM1|transcript|NM_080682.2|protein_coding|8/8|c.1932G>A|p.Lys644Lys|2153/2928|1932/1944|644/647||;p3_1000G_AA=A|||;p3_1000G_AC=4363;p3_1000G_AF=0.871206;p3_1000G_AFR_AF=0.6929;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=21120;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.9702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101203827;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3174,1232;ESP6500_AA_AGE=424.2+/-340.4;ESP6500_AA_GTC=1156,862,185;ESP6500_CDS_SIZES=NM_080682.2:1944,NM_001199834.1:2034,NM_001078.3:2220;ESP6500_CG=-0.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=88;ESP6500_EA_AC=8329,269;ESP6500_EA_AGE=103.3+/-164.5;ESP6500_EA_GTC=4035,259,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080682.2:coding-synonymous,NM_001199834.1:coding-synonymous,NM_001078.3:coding-synonymous;ESP6500_GL=VCAM1;ESP6500_GRCh38_POSITION=1:100738271;ESP6500_GTC=5191,1121,190;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080682.2:c.1932G>A,NM_001199834.1:c.2022G>A,NM_001078.3:c.2208G>A;ESP6500_HGVS_PROTEIN_VAR=NM_080682.2:p.(K644),NM_001199834.1:p.(K674),NM_001078.3:p.(K736);ESP6500_MAF=3.1286,27.9619,11.5426;ESP6500_TAC=11503,1501	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1147,105,0
chr1	100907051	rs4908106	C	A	119.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4908106;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|SLC30A7|SLC30A7|transcript|NM_001144884.1|protein_coding|3/11|c.296+86C>A||||||,A|intron_variant|MODIFIER|SLC30A7|SLC30A7|transcript|NM_133496.4|protein_coding|3/10|c.296+86C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4996;p3_1000G_AF=0.997604;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16149;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101372607;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:147,12,0
chr1	101021817	rs367558853	A	AAC	117.19	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.887;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0;SOR=2.833;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201632964;dbSNPBuildID=138;ANN=AAC|upstream_gene_variant|MODIFIER|LOC102606465|LOC102606465|transcript|NR_109849.1|pseudogene||n.-4029_-4028insAC|||||4028|,AAC|intron_variant|MODIFIER|DPH5|DPH5|transcript|NM_001077394.1|protein_coding|2/7|c.136-54_136-53dupGT||||||,AAC|intron_variant|MODIFIER|DPH5|DPH5|transcript|NM_001077395.1|protein_coding|2/7|c.136-54_136-53dupGT||||||,AAC|intron_variant|MODIFIER|DPH5|DPH5|transcript|NM_015958.2|protein_coding|2/7|c.136-54_136-53dupGT||||||	GT:AD:DP:GQ:PL	0/1:1,7:8:4:153,0,4
chr1	101238976	rs3737577	G	T	1100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.187;ClippingRankSum=0;DP=112;ExcessHet=3.0103;FS=0.743;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.892;SOR=0.788;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737577;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|S1PR1|S1PR1|transcript|NM_001320730.1|protein_coding|2/2|c.-9G>T|||||9|,T|5_prime_UTR_variant|MODIFIER|S1PR1|S1PR1|transcript|NM_001400.4|protein_coding|2/2|c.-9G>T|||||9|,T|upstream_gene_variant|MODIFIER|LOC101928370|LOC101928370|transcript|NR_104626.1|pseudogene||n.-2448C>A|||||2448|;p3_1000G_AA=G|||;p3_1000G_AC=733;p3_1000G_AF=0.146366;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=17391;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101704532;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1247;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=318,4088;ESP6500_AA_GTC=17,284,1902;ESP6500_CDS_SIZES=NM_001400.4:1149;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=20;ESP6500_EA_AC=2822,5778;ESP6500_EA_GTC=471,1880,1949;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001400.4:utr-5;ESP6500_GL=S1PR1;ESP6500_GRCh38_POSITION=1:101238976;ESP6500_GTC=488,2164,3851;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001400.4:c.-9G>T;ESP6500_MAF=32.814,7.2174,24.1427;ESP6500_TAC=3140,9866	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1129,0,1737
chr1	101806218	rs4907955	G	A	718.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4907955;dbSNPBuildID=111;ANN=A|sequence_feature|LOW|OLFM3|OLFM3|domain:Olfactomedin-like|NM_001288821.1|protein_coding|4/5|c.653-36C>T||||||,A|sequence_feature|LOW|OLFM3|OLFM3|domain:Olfactomedin-like|NM_058170.3|protein_coding|4/5|c.593-36C>T||||||,A|intron_variant|MODIFIER|OLFM3|OLFM3|transcript|NM_001288821.1|protein_coding|4/5|c.653-36C>T||||||,A|intron_variant|MODIFIER|OLFM3|OLFM3|transcript|NR_110212.1|pseudogene|5/6|n.1497-36C>T||||||,A|intron_variant|MODIFIER|OLFM3|OLFM3|transcript|NM_001288823.1|protein_coding|5/6|c.368-36C>T||||||,A|intron_variant|MODIFIER|OLFM3|OLFM3|transcript|NM_058170.3|protein_coding|4/5|c.593-36C>T||||||,A|intron_variant|MODIFIER|OLFM3|OLFM3|transcript|NR_110210.1|pseudogene|6/7|n.1809-36C>T||||||,A|intron_variant|MODIFIER|OLFM3|OLFM3|transcript|NR_110211.1|pseudogene|5/6|n.1748-36C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2626;p3_1000G_AF=0.524361;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=18818;p3_1000G_EAS_AF=0.6478;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102271774;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2452,1954;ESP6500_AA_AGE=551.5+/-378.3;ESP6500_AA_GTC=687,1078,438;ESP6500_CDS_SIZES=NM_058170.2:1377;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=70;ESP6500_EA_AC=5027,3571;ESP6500_EA_AGE=514.7+/-378.5;ESP6500_EA_GTC=1480,2067,752;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_058170.2:intron;ESP6500_GL=OLFM3;ESP6500_GRCh38_POSITION=1:101806218;ESP6500_GTC=2167,3145,1190;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_058170.2:c.593-36C>T;ESP6500_MAF=41.5329,44.3486,42.4869;ESP6500_TAC=7479,5525	GT:AD:DP:GQ:PL	1/1:0,24:24:72:747,72,0
chr1	102886895	rs2229783;258470	A	G	2046.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229783;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|63/67|c.4806T>C|p.Ile1602Ile|5124/7327|4806/5457|1602/1818||,G|synonymous_variant|LOW|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|62/66|c.4653T>C|p.Ile1551Ile|4971/7174|4653/5304|1551/1767||,G|synonymous_variant|LOW|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|63/67|c.4770T>C|p.Ile1590Ile|5088/7291|4770/5421|1590/1806||,G|synonymous_variant|LOW|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|61/65|c.4422T>C|p.Ile1474Ile|4740/6943|4422/5073|1474/1690||,G|non_coding_transcript_exon_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|64/68|n.5104T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2427;p3_1000G_AF=0.484625;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.7478;p3_1000G_AN=5008;p3_1000G_DP=17459;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.6064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103352451;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=615,3791;ESP6500_AA_AGE=769.4+/-413.7;ESP6500_AA_GTC=55,505,1643;ESP6500_CDS_SIZES=NM_080630.3:5073,NM_080629.2:5457,NM_001854.3:5421,NM_001190709.1:5304;ESP6500_CG=-5.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=194;ESP6500_EA_AC=5217,3383;ESP6500_EA_AGE=501.1+/-375.4;ESP6500_EA_GTC=1598,2021,681;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080630.3:coding-synonymous,NM_080629.2:coding-synonymous,NM_001854.3:coding-synonymous,NM_001190709.1:coding-synonymous;ESP6500_GL=COL11A1;ESP6500_GRCh38_POSITION=1:102886895;ESP6500_GTC=1653,2526,2324;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080630.3:c.4422T>C,NM_080629.2:c.4806T>C,NM_001854.3:c.4770T>C,NM_001190709.1:c.4653T>C;ESP6500_HGVS_PROTEIN_VAR=NM_080630.3:p.(I1474),NM_080629.2:p.(I1602),NM_001854.3:p.(I1590),NM_001190709.1:p.(I1551);ESP6500_MAF=39.3372,13.9582,44.8408;ESP6500_TAC=5832,7174;CLINVAR_AF_ESP=0.4484;CLINVAR_AF_TGP=0.4846;CLINVAR_ALLELEID=249270;CLINVAR_CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:CN169374|MedGen:CN239460;CLINVAR_CLNDN=Marshall_syndrome|Fibrochondrogenesis|not_specified|Stickler_Syndrome,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.102886895A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:1995;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229783	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2075,198,0
chr1	102888582	rs1676486;17137	A	G	2598.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1676486;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|62/67|c.4639T>C|p.Ser1547Pro|4957/7327|4639/5457|1547/1818||,G|missense_variant|MODERATE|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|61/66|c.4486T>C|p.Ser1496Pro|4804/7174|4486/5304|1496/1767||,G|missense_variant|MODERATE|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|62/67|c.4603T>C|p.Ser1535Pro|4921/7291|4603/5421|1535/1806||,G|missense_variant|MODERATE|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|60/65|c.4255T>C|p.Ser1419Pro|4573/6943|4255/5073|1419/1690||,G|non_coding_transcript_exon_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|63/68|n.4937T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3921;p3_1000G_AF=0.782947;p3_1000G_AFR_AF=0.8048;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=15466;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103354138;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3519,887;ESP6500_AA_AGE=331.0+/-301.8;ESP6500_AA_GTC=1398,723,82;ESP6500_CDS_SIZES=NM_080630.3:5073,NM_080629.2:5457,NM_001854.3:5421,NM_001190709.1:5304;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=65;ESP6500_EA_AC=6977,1623;ESP6500_EA_AGE=300.4+/-304.9;ESP6500_EA_GTC=2839,1299,162;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080630.3:missense,NM_080629.2:missense,NM_001854.3:missense,NM_001190709.1:missense;ESP6500_GL=COL11A1;ESP6500_GRCh38_POSITION=1:102888582;ESP6500_GS=74,74,74,74;ESP6500_GTC=4237,2022,244;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080630.3:c.4255T>C,NM_080629.2:c.4639T>C,NM_001854.3:c.4603T>C,NM_001190709.1:c.4486T>C;ESP6500_HGVS_PROTEIN_VAR=NM_080630.3:p.(S1419P),NM_080629.2:p.(S1547P),NM_001854.3:p.(S1535P),NM_001190709.1:p.(S1496P);ESP6500_MAF=18.8721,20.1316,19.2988;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10496,2510;CLINVAR_ALLELEID=32176;CLINVAR_CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:C2676840|MedGen:CN169374|MedGen:CN239460;CLINVAR_CLNDN=Marshall_syndrome|Fibrochondrogenesis|Lumbar_disc_herniation,_susceptibility_to|not_specified|Stickler_Syndrome,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.102888582A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2003|OMIM_Allelic_Variant:120280.0007|UniProtKB_(protein):P12107#VAR_047727;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1676486	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2627,255,0
chr1	102888872	rs1763347;258466	A	G	2168.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=1.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1763347;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|60/67|c.4548T>C|p.Gly1516Gly|4866/7327|4548/5457|1516/1818||,G|synonymous_variant|LOW|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|59/66|c.4395T>C|p.Gly1465Gly|4713/7174|4395/5304|1465/1767||,G|synonymous_variant|LOW|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|60/67|c.4512T>C|p.Gly1504Gly|4830/7291|4512/5421|1504/1806||,G|synonymous_variant|LOW|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|58/65|c.4164T>C|p.Gly1388Gly|4482/6943|4164/5073|1388/1690||,G|non_coding_transcript_exon_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|61/68|n.4846T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3118;p3_1000G_AF=0.622604;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=17143;p3_1000G_EAS_AF=0.746;p3_1000G_EUR_AF=0.8042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103354428;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1409,2997;ESP6500_AA_AGE=680.0+/-403.8;ESP6500_AA_GTC=237,935,1031;ESP6500_CDS_SIZES=NM_080630.3:5073,NM_080629.2:5457,NM_001854.3:5421,NM_001190709.1:5304;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=96;ESP6500_EA_AC=6693,1907;ESP6500_EA_AGE=337.8+/-322.5;ESP6500_EA_GTC=2608,1477,215;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080630.3:coding-synonymous,NM_080629.2:coding-synonymous,NM_001854.3:coding-synonymous,NM_001190709.1:coding-synonymous;ESP6500_GL=COL11A1;ESP6500_GRCh38_POSITION=1:102888872;ESP6500_GTC=2845,2412,1246;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080630.3:c.4164T>C,NM_080629.2:c.4548T>C,NM_001854.3:c.4512T>C,NM_001190709.1:c.4395T>C;ESP6500_HGVS_PROTEIN_VAR=NM_080630.3:p.(G1388),NM_080629.2:p.(G1516),NM_001854.3:p.(G1504),NM_001190709.1:p.(G1465);ESP6500_MAF=22.1744,31.9791,37.7057;ESP6500_TAC=8102,4904;CLINVAR_ALLELEID=249274;CLINVAR_CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:CN169374|MedGen:CN239460;CLINVAR_CLNDN=Marshall_syndrome|Fibrochondrogenesis|not_specified|Stickler_Syndrome,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.102888872A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2008;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1763347	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2197,195,0
chr1	102889383	rs113226085;rs777643087	C	CTGTGTGTGTG	340.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.76;SOR=2.093;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113226085;dbSNPBuildID=132,144;ANN=CTGTGTGTGTG|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|59/66|c.4500+62_4500+71dupCACACACACA||||||,CTGTGTGTGTG|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|58/65|c.4347+62_4347+71dupCACACACACA||||||,CTGTGTGTGTG|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|59/66|c.4464+62_4464+71dupCACACACACA||||||,CTGTGTGTGTG|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|57/64|c.4116+62_4116+71dupCACACACACA||||||,CTGTGTGTGTG|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|60/67|n.4798+62_4798+71dupCACACACACA||||||;p3_1000G_AC=2134;p3_1000G_AF=0.426118;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=13721;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.5278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103354939;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:26:314,26,0
chr1	102890612	rs1085	A	C	325.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1085;dbSNPBuildID=36;ANN=C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|57/66|c.4339-108T>G||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|56/65|c.4186-108T>G||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|57/66|c.4303-108T>G||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|55/64|c.3955-108T>G||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|58/67|n.4637-108T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3139;p3_1000G_AF=0.626797;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=13851;p3_1000G_EAS_AF=0.746;p3_1000G_EUR_AF=0.8101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103356168;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:354,27,0
chr1	102914362	rs3753841;258461	G	A	271.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3753841;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|52/67|c.4004C>T|p.Pro1335Leu|4322/7327|4004/5457|1335/1818||,A|missense_variant|MODERATE|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|51/66|c.3851C>T|p.Pro1284Leu|4169/7174|3851/5304|1284/1767||,A|missense_variant|MODERATE|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|52/67|c.3968C>T|p.Pro1323Leu|4286/7291|3968/5421|1323/1806||,A|missense_variant|MODERATE|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|50/65|c.3620C>T|p.Pro1207Leu|3938/6943|3620/5073|1207/1690||,A|non_coding_transcript_exon_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|53/68|n.4302C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2487;p3_1000G_AF=0.496605;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=14366;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.6123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103379918;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=615,3791;ESP6500_AA_AGE=245.0+/-254.1;ESP6500_AA_GTC=51,513,1639;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22922875;ESP6500_CDS_SIZES=NM_080630.3:5073,NM_080629.2:5457,NM_001854.3:5421,NM_001190709.1:5304;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=34;ESP6500_EA_AC=5260,3340;ESP6500_EA_AGE=623.3+/-397.4;ESP6500_EA_GTC=1623,2014,663;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080630.3:missense,NM_080629.2:missense,NM_001854.3:missense,NM_001190709.1:missense;ESP6500_GL=COL11A1;ESP6500_GRCh38_POSITION=1:102914362;ESP6500_GS=98,98,98,98;ESP6500_GTC=1674,2527,2302;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22922875;ESP6500_HGVS_CDNA_VAR=NM_080630.3:c.3620C>T,NM_080629.2:c.4004C>T,NM_001854.3:c.3968C>T,NM_001190709.1:c.3851C>T;ESP6500_HGVS_PROTEIN_VAR=NM_080630.3:p.(P1207L),NM_080629.2:p.(P1335L),NM_001854.3:p.(P1323L),NM_001190709.1:p.(P1284L);ESP6500_MAF=38.8372,13.9582,45.1715;ESP6500_PH=possibly-damaging:0.935,possibly-damaging:0.935,possibly-damaging:0.935,possibly-damaging:0.935;ESP6500_TAC=5875,7131;CLINVAR_AF_ESP=0.4517;CLINVAR_AF_TGP=0.4966;CLINVAR_ALLELEID=249279;CLINVAR_CLNDISDB=MedGen:C0265235,OMIM:154780,SNOMED_CT:33410002|MedGen:C0265282,OMIM:228520,Orphanet:ORPHA2021,SNOMED_CT:17144009|MedGen:CN169374|MedGen:CN239460;CLINVAR_CLNDN=Marshall_syndrome|Fibrochondrogenesis|not_specified|Stickler_Syndrome,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.102914362G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2013|UniProtKB_(protein):P12107#VAR_047726;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3753841	GT:AD:DP:GQ:PL	1/1:0,9:9:27:300,27,0
chr1	102914823	rs34228277;rs532651605;516177	T	TA	487.27	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.574;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=2.679;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-0.08;SOR=0.249;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34228277;dbSNPBuildID=137,142;ANN=TA|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|50/66|c.3853-13dupT||||||,TA|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|49/65|c.3700-13dupT||||||,TA|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|50/66|c.3817-13dupT||||||,TA|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|48/64|c.3469-13dupT||||||,TA|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|51/67|n.4151-13dupT||||||;CLINVAR_ALLELEID=497941;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.102914823_102914824insA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1	GT:AD:DP:GQ:PL	0/1:3,23:26:1:522,0,1
chr1	102934935	rs11164641	G	A	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11164641;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|45/66|c.3528+125C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|44/65|c.3375+125C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|45/66|c.3492+125C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|43/64|c.3144+125C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|46/67|n.3826+125C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3894;p3_1000G_AF=0.777556;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=15374;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103400491;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:102934935_G_A:180,12,0
chr1	102934936	rs11164642;rs202071775	A	T	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11164642;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|45/66|c.3528+124T>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|44/65|c.3375+124T>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|45/66|c.3492+124T>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|43/64|c.3144+124T>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|46/67|n.3826+124T>A||||||;p3_1000G_AC=3894;p3_1000G_AF=0.777556;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=15854;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103400492;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:102934935_G_A:180,12,0
chr1	102962833	rs1841834	G	A	458.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1841834;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|38/66|c.2953-73C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|37/65|c.2800-73C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|38/66|c.2917-73C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|36/64|c.2569-73C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|39/67|n.3251-73C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4751;p3_1000G_AF=0.948682;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=18477;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103428389;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:487,39,0
chr1	102979123	rs11164649;258445	T	G	762.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.25;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11164649;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|32/66|c.2647-19A>C||||||,G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|31/65|c.2494-19A>C||||||,G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|32/66|c.2611-19A>C||||||,G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|30/64|c.2263-19A>C||||||,G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|33/67|n.2945-19A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3151;p3_1000G_AF=0.629193;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=18345;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.7018;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103444679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1190,3216;ESP6500_AA_AGE=402.8+/-332.5;ESP6500_AA_GTC=151,888,1164;ESP6500_CDS_SIZES=NM_080630.3:5073,NM_080629.2:5457,NM_001854.3:5421,NM_001190709.1:5304;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=5985,2615;ESP6500_EA_AGE=678.4+/-403.5;ESP6500_EA_GTC=2097,1791,412;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080630.3:intron,NM_080629.2:intron,NM_001854.3:intron,NM_001190709.1:intron;ESP6500_GL=COL11A1;ESP6500_GRCh38_POSITION=1:102979123;ESP6500_GTC=2248,2679,1576;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_080630.3:c.2263-19A>C,NM_080629.2:c.2647-19A>C,NM_001854.3:c.2611-19A>C,NM_001190709.1:c.2494-19A>C;ESP6500_MAF=30.407,27.0086,44.8332;ESP6500_TAC=7175,5831;CLINVAR_ALLELEID=249292;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.102979123T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11164649	GT:AD:DP:GQ:PL	1/1:0,27:27:81:791,81,0
chr1	102984042	rs2615978	G	C	244.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2615978;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|31/66|c.2592+96C>G||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|30/65|c.2439+96C>G||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|31/66|c.2556+96C>G||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|29/64|c.2208+96C>G||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|31/67|n.2874+96C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4749;p3_1000G_AF=0.948283;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=16142;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103449598;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:273,24,0
chr1	102989661	rs1463034	C	T	242.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.28;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1463034;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|28/66|c.2377-90G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|27/65|c.2224-90G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|28/66|c.2341-90G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|26/64|c.1993-90G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|28/67|n.2659-90G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4042;p3_1000G_AF=0.807109;p3_1000G_AFR_AF=0.4894;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=12754;p3_1000G_EAS_AF=0.9325;p3_1000G_EUR_AF=0.9115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103455217;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:271,30,0
chr1	102995952	rs2622867;258443	T	A	304.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.71;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2622867;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|27/66|c.2331+37A>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|26/65|c.2178+37A>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|27/66|c.2295+37A>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|25/64|c.1947+37A>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|27/67|n.2613+37A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4627;p3_1000G_AF=0.923922;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=15654;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103461508;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3518,888;ESP6500_AA_AGE=333.1+/-302.8;ESP6500_AA_GTC=1396,726,81;ESP6500_CDS_SIZES=NM_080630.3:5073,NM_080629.2:5457,NM_001854.3:5421,NM_001190709.1:5304;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=73;ESP6500_EA_AC=8246,340;ESP6500_EA_AGE=116.1+/-175.8;ESP6500_EA_GTC=3964,318,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080630.3:intron,NM_080629.2:intron,NM_001854.3:intron,NM_001190709.1:intron;ESP6500_GL=COL11A1;ESP6500_GRCh38_POSITION=1:102995952;ESP6500_GTC=5360,1044,92;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_080630.3:c.1947+37A>T,NM_080629.2:c.2331+37A>T,NM_001854.3:c.2295+37A>T,NM_001190709.1:c.2178+37A>T;ESP6500_MAF=3.9599,20.1543,9.452;ESP6500_TAC=11764,1228;CLINVAR_ALLELEID=249294;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.102995952T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2622867	GT:AD:DP:GQ:PL	1/1:0,11:11:33:333,33,0
chr1	102998420	rs2622870	G	T	55.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2622870;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|24/66|c.2179-57C>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|23/65|c.2026-57C>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|24/66|c.2143-57C>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|22/64|c.1795-57C>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|24/67|n.2461-57C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4254;p3_1000G_AF=0.849441;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=12433;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.9354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103463976;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0
chr1	103002059	rs2929162	C	T	485.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2929162;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|23/66|c.2134-90G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|22/65|c.1981-90G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|23/66|c.2098-90G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|21/64|c.1750-90G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|23/67|n.2416-90G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4628;p3_1000G_AF=0.924121;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=17148;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103467615;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:50:1|1:103002058_A_G:514,50,0
chr1	103003053	rs2251895	A	G	214.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2251895;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|21/66|c.2034+162T>C||||||,G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|20/65|c.1881+162T>C||||||,G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|21/66|c.1998+162T>C||||||,G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|19/64|c.1650+162T>C||||||,G|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|21/67|n.2316+162T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4629;p3_1000G_AF=0.924321;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=18094;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103468609;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:243,18,0
chr1	103005900	rs71752747;93966	CCAT	C	1021.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=0.859;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71752747,rs112482103,rs145973872;dbSNPBuildID=136;ANN=C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|17/66|c.1828-12_1828-10delATG||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|16/65|c.1675-12_1675-10delATG||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|17/66|c.1792-12_1792-10delATG||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|15/64|c.1444-12_1444-10delATG||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|17/67|n.2110-12_2110-10delATG||||||;CLINVAR_AF_EXAC=0.00070;CLINVAR_ALLELEID=99868;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.103005901_103005903delCAT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=71752747	GT:AD:DP:GQ:PL	1/1:0,24:24:72:1059,72,0
chr1	103006178	rs59259783;rs71592255	A	AAAATAAATAAAT	588.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.6;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10659072,rs59259783,rs71592255;dbSNPBuildID=130,129;ANN=AAAATAAATAAAT|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|16/66|c.1774-69_1774-58dupATTTATTTATTT||||||,AAAATAAATAAAT|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|15/65|c.1621-69_1621-58dupATTTATTTATTT||||||,AAAATAAATAAAT|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|16/66|c.1738-69_1738-58dupATTTATTTATTT||||||,AAAATAAATAAAT|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|14/64|c.1390-69_1390-58dupATTTATTTATTT||||||,AAAATAAATAAAT|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|16/67|n.2056-69_2056-58dupATTTATTTATTT||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:40:626,40,0
chr1	103017958	rs945748	C	T	270.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs945748;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|10/66|c.1387-76G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|9/65|c.1234-76G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|10/66|c.1351-76G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|8/64|c.1003-76G>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|10/67|n.1669-76G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3200;p3_1000G_AF=0.638978;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=15938;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103483514;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:299,27,0
chr1	103021838	rs35291481;rs532376977	CT	C	132.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.13;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35291481;dbSNPBuildID=126,142;ANN=C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|8/66|c.1282-70delA||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|7/65|c.1129-70delA||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|8/66|c.1246-70delA||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|6/64|c.898-70delA||||||,C|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|8/67|n.1564-70delA||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:18:170,18,0
chr1	103031064	rs7523441	G	T	1620.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7523441;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|5/66|c.780+52C>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|5/65|c.780+52C>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|5/66|c.780+52C>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|5/64|c.780+52C>A||||||,T|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|5/67|n.1098+52C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4723;p3_1000G_AF=0.943091;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=17817;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103496620;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1494,258;ESP6500_AA_GTC=638,218,20;ESP6500_CDS_SIZES=NM_080630.3:5073,NM_080629.2:5457,NM_001854.3:5421,NM_001190709.1:5304;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=3812,170;ESP6500_EA_GTC=1826,160,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080630.3:intron,NM_080629.2:intron,NM_001854.3:intron,NM_001190709.1:intron;ESP6500_GL=COL11A1;ESP6500_GRCh38_POSITION=1:103031064;ESP6500_GTC=2464,378,25;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_080630.3:c.780+52C>A,NM_080629.2:c.780+52C>A,NM_001854.3:c.780+52C>A,NM_001190709.1:c.780+52C>A;ESP6500_MAF=4.2692,14.726,7.4642;ESP6500_TAC=5306,428	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1649,150,0
chr1	103031249	rs1240899266;rs36076089;218828	GA	G	933.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.985;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=12.04;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=1.31;SOR=1.577;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs36076089;dbSNPBuildID=126,151;ANN=G|splice_region_variant&intron_variant|LOW|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|4/66|c.652-6delT||||||,G|splice_region_variant&intron_variant|LOW|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|4/65|c.652-6delT||||||,G|splice_region_variant&intron_variant|LOW|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|4/66|c.652-6delT||||||,G|splice_region_variant&intron_variant|LOW|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|4/64|c.652-6delT||||||,G|splice_region_variant&intron_variant|LOW|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|4/67|n.970-6delT||||||;CLINVAR_AF_EXAC=0.11635;CLINVAR_ALLELEID=215177;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.103031250delA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=COL11A1:1301;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=0;CLINVAR_RS=36076089	GT:AD:DP:GQ:PL	0/1:9,41:50:70:971,0,70
chr1	103107991	rs6691654	G	A	626.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6691654;dbSNPBuildID=116;ANN=A|sequence_feature|LOW|COL11A1|COL11A1|propeptide:N-terminal_propeptide|NM_080629.2|protein_coding|1/66|c.106+82C>T||||||,A|sequence_feature|LOW|COL11A1|COL11A1|propeptide:N-terminal_propeptide|NM_001190709.1|protein_coding|1/65|c.106+82C>T||||||,A|sequence_feature|LOW|COL11A1|COL11A1|propeptide:N-terminal_propeptide|NM_001854.3|protein_coding|1/66|c.106+82C>T||||||,A|sequence_feature|LOW|COL11A1|COL11A1|propeptide:N-terminal_propeptide|NM_080630.3|protein_coding|1/64|c.106+82C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080629.2|protein_coding|1/66|c.106+82C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001190709.1|protein_coding|1/65|c.106+82C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_001854.3|protein_coding|1/66|c.106+82C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NM_080630.3|protein_coding|1/64|c.106+82C>T||||||,A|intron_variant|MODIFIER|COL11A1|COL11A1|transcript|NR_134980.1|pseudogene|1/67|n.424+82C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4365;p3_1000G_AF=0.871605;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=14731;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103573547;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:59:655,59,0
chr1	103433089	rs6676023	G	A	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.147;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=1.37;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146522653;dbSNPBuildID=116;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|LOC101928436|LOC101928436|transcript|NM_001286997.1|protein_coding|2/4|c.-27C>T||||||,A|5_prime_UTR_variant|MODIFIER|LOC101928436|LOC101928436|transcript|NM_001286997.1|protein_coding|2/4|c.-27C>T|||||27|	GT:AD:DP:GQ:PL	0/1:12,6:18:99:170,0,379
chr1	103533650	rs372972876;rs74212615	CA	C	238.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.072;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.067;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs372972876,rs74212615;dbSNPBuildID=138,130;ANN=C|intron_variant|MODIFIER|RNPC3|RNPC3|transcript|NM_017619.3|protein_coding|2/14|c.241-75delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,13:16:31:276,0,31
chr1	103533840	rs6697444	C	T	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.992;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-1.342;SOR=1.552;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6697444;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|RNPC3|RNPC3|transcript|NM_017619.3|protein_coding|3/15|c.342C>T|p.Gly114Gly|457/1885|342/1554|114/517||;p3_1000G_AA=.|||;p3_1000G_AC=3015;p3_1000G_AF=0.602037;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=15445;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104076462;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=978,406;ESP6500_AA_GTC=354,270,68;ESP6500_CDS_SIZES=NM_017619.3:1554;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=60;ESP6500_EA_AC=1974,1206;ESP6500_EA_GTC=608,758,224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017619.3:coding-synonymous;ESP6500_GL=RNPC3;ESP6500_GRCh38_POSITION=1:103533840;ESP6500_GTC=962,1028,292;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017619.3:c.342C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017619.3:p.(G114);ESP6500_MAF=37.9245,29.3353,35.3199;ESP6500_TAC=2952,1612	GT:AD:DP:GQ:PL	0/1:11,11:22:99:319,0,329
chr1	103533873	rs6702220	A	G	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=5.008;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.227;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6702220;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|RNPC3|RNPC3|transcript|NM_017619.3|protein_coding|3/14|c.359+16A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3226;p3_1000G_AF=0.644169;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=15843;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.6431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104076495;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:207,0,326
chr1	103533915	rs6702324	A	T	22.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.668;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.366;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6702324;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RNPC3|RNPC3|transcript|NM_017619.3|protein_coding|3/14|c.359+58A>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3226;p3_1000G_AF=0.644169;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=17122;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.6431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104076537;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:51:51,0,167
chr1	103537547	rs10736038	G	C	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.664;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.691;SOR=0.042;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10736038;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|RNPC3|RNPC3|transcript|NM_017619.3|protein_coding|7/14|c.767+63G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3015;p3_1000G_AF=0.602037;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=13232;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104080169;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:180,0,250
chr1	103541604	rs10881232	A	G	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.24;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.98;ReadPosRankSum=-2.006;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10881232;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|RNPC3|RNPC3|transcript|NM_017619.3|protein_coding|8/14|c.893+129A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3032;p3_1000G_AF=0.605431;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=16936;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104084226;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:373,0,138
chr1	103543523	rs10785725	A	G	502.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10785725;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|RNPC3|RNPC3|transcript|NM_017619.3|protein_coding|9/14|c.1045+76A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16441;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104086145;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:531,51,0
chr1	103547151	rs7529928	C	G	80.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.2;ReadPosRankSum=-1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7529928;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|RNPC3|RNPC3|transcript|NM_017619.3|protein_coding|12/14|c.1361+116C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3231;p3_1000G_AF=0.645168;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=14435;p3_1000G_EAS_AF=0.3671;p3_1000G_EUR_AF=0.6421;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104089773;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:25:109,0,25
chr1	103573943	rs79005152	A	T	1051.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.227;MLEAC=1;MLEAF=0.5;MQ=55.94;MQRankSum=-0.234;QD=19.12;ReadPosRankSum=-0.156;SOR=0.523;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79005152;dbSNPBuildID=131;ANN=T|splice_region_variant&intron_variant|LOW|AMY2B|AMY2B|transcript|NM_020978.4|protein_coding|6/11|c.744+5A>T||||||,T|downstream_gene_variant|MODIFIER|ACTG1P4|ACTG1P4|transcript|NR_024438.2|pseudogene||n.*2557A>T|||||2557|;p3_1000G_AA=.|||;p3_1000G_AC=718;p3_1000G_AF=0.143371;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=17786;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.1571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104116565;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=210,4196;ESP6500_AA_AGE=124.9+/-162.1;ESP6500_AA_GTC=5,200,1998;ESP6500_CDS_SIZES=NM_020978.3:1536;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=108;ESP6500_EA_AC=1457,7143;ESP6500_EA_AGE=273.5+/-290.7;ESP6500_EA_GTC=121,1215,2964;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020978.3:intron;ESP6500_GL=AMY2B;ESP6500_GRCh38_POSITION=1:103573943;ESP6500_GTC=126,1415,4962;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020978.3:c.744+5A>T;ESP6500_MAF=16.9419,4.7662,12.8172;ESP6500_TAC=1667,11339	GT:AD:DP:GQ:PL	0/1:16,39:55:99:1080,0,317
chr1	103575060	rs59615316;rs71874824;rs774185918	GTA	G	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-1.645;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs59615316,rs71874824;dbSNPBuildID=137,144,129;ANN=G|downstream_gene_variant|MODIFIER|ACTG1P4|ACTG1P4|transcript|NR_024438.2|pseudogene||n.*3675_*3676delTA|||||3675|,G|intron_variant|MODIFIER|AMY2B|AMY2B|transcript|NM_020978.4|protein_coding|7/11|c.879-139_879-138delAT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,3:5:53:75,0,53
chr1	103623874	rs1140401	T	C	333.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.68;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=6.065;MLEAC=1;MLEAF=0.5;MQ=34.96;MQRankSum=-0.771;QD=4.17;ReadPosRankSum=0.283;SOR=1.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1140401;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|AMY2A|AMY2A|transcript|NM_000699.3|protein_coding|8/10|c.1110T>C|p.Asn370Asn|1219/1679|1110/1536|370/511||	GT:AD:DP:GQ:PL	0/1:61,19:80:99:362,0,1508
chr1	103623925	rs760606304	T	G	824.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=131;ExcessHet=3.0103;FS=6.122;MLEAC=1;MLEAF=0.5;MQ=35.51;MQRankSum=-0.296;QD=6.3;ReadPosRankSum=-0.46;SOR=1.3;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|missense_variant|MODERATE|AMY2A|AMY2A|transcript|NM_000699.3|protein_coding|8/10|c.1161T>G|p.Ile387Met|1270/1679|1161/1536|387/511||	GT:AD:DP:GQ:PL	0/1:89,42:131:99:853,0,2160
chr1	104073419	rs72685703	C	T	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.45;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.669;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=0.04;SOR=1.194;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72685703;dbSNPBuildID=130;ANN=T|non_coding_transcript_exon_variant|MODIFIER|LOC100129138|LOC100129138|transcript|NR_033990.1|pseudogene|1/2|n.397C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=54;p3_1000G_AF=0.0107827;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=16240;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104616041;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,17:23:99:429,0,141
chr1	104073715	rs6664203	A	G	93.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6664203;dbSNPBuildID=116;ANN=G|non_coding_transcript_exon_variant|MODIFIER|LOC100129138|LOC100129138|transcript|NR_033990.1|pseudogene|1/2|n.693A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3183;p3_1000G_AF=0.635583;p3_1000G_AFR_AF=0.7398;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=17522;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.5268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=104616337;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:121,9,0
chr1	106412887	rs7522273	T	C	51.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.99;QD=25.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7522273;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|LOC101928476-PRMT6|LOC101928476-PRMT6|intergenic_region|LOC101928476-PRMT6|||n.106412887T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=4596;p3_1000G_AF=0.917732;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=12294;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.8678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106955509;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr1	107436774	rs480392	A	C	1796.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs480392;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|NTNG1|NTNG1|transcript|NM_001113226.2|protein_coding|6/7|c.1365A>C|p.Gly455Gly|1890/6204|1365/1620|455/539||,C|synonymous_variant|LOW|NTNG1|NTNG1|transcript|NM_001312688.1|protein_coding|7/8|c.1263A>C|p.Gly421Gly|2070/6384|1263/1518|421/505||,C|intron_variant|MODIFIER|NTNG1|NTNG1|transcript|NM_014917.3|protein_coding|5/5|c.1087+29066A>C||||||,C|intron_variant|MODIFIER|NTNG1|NTNG1|transcript|NM_001113228.2|protein_coding|6/6|c.1213+15631A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4759;p3_1000G_AF=0.95028;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=19432;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107979396;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2673,463;ESP6500_AA_GTC=1128,417,23;ESP6500_CDS_SIZES=NM_014917.2:1317,NM_001113228.1:1443,NM_001113226.1:1620;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=138;ESP6500_EA_AC=7160,4;ESP6500_EA_GTC=3578,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014917.2:intron,NM_001113228.1:intron,NM_001113226.1:coding-synonymous;ESP6500_GL=NTNG1;ESP6500_GRCh38_POSITION=1:107436774;ESP6500_GTC=4706,421,23;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014917.2:c.1087+29066A>C,NM_001113228.1:c.1213+15631A>C,NM_001113226.1:c.1365A>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_001113226.1:p.(G455);ESP6500_MAF=0.0558,14.764,4.534;ESP6500_TAC=9833,467	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,54:54:99:1|1:107436770_C_A:1825,165,0
chr1	107596381	rs3748702	C	T	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.286;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=2.198;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-1.173;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748702;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_006113.4|protein_coding|24/26|c.2221-40G>A||||||,T|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_001079874.1|protein_coding|7/9|c.541-40G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1634;p3_1000G_AF=0.326278;p3_1000G_AFR_AF=0.2557;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=20139;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108139003;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1239,3167;ESP6500_AA_AGE=386.1+/-326.0;ESP6500_AA_GTC=192,855,1156;ESP6500_CDS_SIZES=NM_006113.4:2544,NM_001079874.1:864;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=55;ESP6500_EA_AC=3398,5202;ESP6500_EA_AGE=477.4+/-369.6;ESP6500_EA_GTC=691,2016,1593;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006113.4:intron,NM_001079874.1:intron;ESP6500_GL=VAV3;ESP6500_GRCh38_POSITION=1:107596381;ESP6500_GTC=883,2871,2749;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006113.4:c.2221-40G>A,NM_001079874.1:c.541-40G>A;ESP6500_MAF=39.5116,28.1207,35.6528;ESP6500_TAC=4637,8369	GT:AD:DP:GQ:PL	0/1:17,15:32:99:460,0,514
chr1	107610008	rs2296877	G	T	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.582;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.608;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.989;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296877;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_006113.4|protein_coding|21/26|c.1981-43C>A||||||,T|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_001079874.1|protein_coding|4/9|c.301-43C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1094;p3_1000G_AF=0.21845;p3_1000G_AFR_AF=0.1687;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=16800;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.1551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108152630;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1871;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=758,3648;ESP6500_AA_AGE=305.2+/-288.9;ESP6500_AA_GTC=70,618,1515;ESP6500_CDS_SIZES=NM_006113.4:2544,NM_001079874.1:864;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=1324,7276;ESP6500_EA_AGE=257.7+/-281.7;ESP6500_EA_GTC=99,1126,3075;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006113.4:intron,NM_001079874.1:intron;ESP6500_GL=VAV3;ESP6500_GRCh38_POSITION=1:107610008;ESP6500_GTC=169,1744,4590;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_006113.4:c.1981-43C>A,NM_001079874.1:c.301-43C>A;ESP6500_MAF=15.3953,17.2038,16.008;ESP6500_TAC=2082,10924	GT:AD:DP:GQ:PL	0/1:18,18:36:99:429,0,578
chr1	107617638	rs5776894;rs869268744	GA	G	143.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.453;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=1.61;SOR=1.759;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5776894;dbSNPBuildID=137,147;ANN=G|splice_region_variant&intron_variant|LOW|VAV3|VAV3|transcript|NM_006113.4|protein_coding|20/26|c.1915-7delT||||||,G|splice_region_variant&intron_variant|LOW|VAV3|VAV3|transcript|NM_001079874.1|protein_coding|3/9|c.235-7delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1725;p3_1000G_AF=0.344449;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=15095;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.4414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108160260;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,8:14:99:181,0,119
chr1	107683685	rs368193930	AGTTT	A	421.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.224;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.86;ReadPosRankSum=1.17;SOR=3.611;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs368193930;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_006113.4|protein_coding|18/26|c.1732-156_1732-153delAAAC||||||,A|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_001079874.1|protein_coding|1/9|c.52-156_52-153delAAAC||||||;p3_1000G_AC=14;p3_1000G_AF=0.00279553;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21350;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108226307;p3_1000G_GRCH37_REF=AGTTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,11:12:26:459,0,26
chr1	107749638	rs6672483	A	G	779.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.61;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6672483;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_006113.4|protein_coding|13/26|c.1260-44T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3880;p3_1000G_AF=0.77476;p3_1000G_AFR_AF=0.6921;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=17547;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.6133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108292260;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2979,1425;ESP6500_AA_AGE=431.8+/-343.0;ESP6500_AA_GTC=1020,939,243;ESP6500_CDS_SIZES=NM_006113.4:2544;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=44;ESP6500_EA_AC=5224,3366;ESP6500_EA_AGE=479.2+/-370.1;ESP6500_EA_GTC=1584,2056,655;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006113.4:intron;ESP6500_GL=VAV3;ESP6500_GRCh38_POSITION=1:107749638;ESP6500_GTC=2604,2995,898;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006113.4:c.1260-44T>C;ESP6500_MAF=39.1851,32.3569,36.8709;ESP6500_TAC=8203,4791	GT:AD:DP:GQ:PL	1/1:0,21:21:63:808,63,0
chr1	107757153	rs1169285209	A	ATG	129.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.035;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.549;SOR=0.859;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=ATG|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_006113.4|protein_coding|11/26|c.1086+106_1086+107dupCA||||||	GT:AD:DP:GQ:PL	0/1:2,7:9:24:167,0,24
chr1	107765020	rs7514025	C	T	220.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.6;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7514025;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_006113.4|protein_coding|9/26|c.921+56G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3450;p3_1000G_AF=0.688898;p3_1000G_AFR_AF=0.6876;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=15828;p3_1000G_EAS_AF=0.7302;p3_1000G_EUR_AF=0.7853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108307642;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:249,24,0
chr1	107765105	rs7528153	T	A	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.976;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.677;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7528153;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|VAV3|VAV3|transcript|NM_006113.4|protein_coding|9/27|c.892A>T|p.Thr298Ser|946/4769|892/2544|298/847||;p3_1000G_AA=T|||;p3_1000G_AC=2543;p3_1000G_AF=0.507788;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=15591;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108307727;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2699,1707;ESP6500_AA_AGE=646.4+/-398.4;ESP6500_AA_GTC=816,1067,320;ESP6500_CDS_SIZES=NM_006113.4:2544;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=80;ESP6500_EA_AC=5984,2616;ESP6500_EA_AGE=686.2+/-404.1;ESP6500_EA_GTC=2078,1828,394;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006113.4:missense;ESP6500_GL=VAV3;ESP6500_GRCh38_POSITION=1:107765105;ESP6500_GS=58;ESP6500_GTC=2894,2895,714;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_006113.4:c.892A>T;ESP6500_HGVS_PROTEIN_VAR=NM_006113.4:p.(T298S);ESP6500_MAF=30.4186,38.7426,33.2385;ESP6500_PH=possibly-damaging:0.566;ESP6500_TAC=8683,4323	GT:AD:DP:GQ:PL	0/1:12,11:23:99:278,0,228
chr1	107770636	rs6583048	C	T	906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.23;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6583048;dbSNPBuildID=116;ANN=T|splice_region_variant&synonymous_variant|LOW|VAV3|VAV3|transcript|NM_006113.4|protein_coding|6/27|c.648G>A|p.Lys216Lys|702/4769|648/2544|216/847||;p3_1000G_AA=T|||;p3_1000G_AC=3360;p3_1000G_AF=0.670927;p3_1000G_AFR_AF=0.6876;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=15019;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108313258;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3118,1284;ESP6500_AA_AGE=416.1+/-337.4;ESP6500_AA_GTC=1098,922,181;ESP6500_CDS_SIZES=NM_006113.4:2544;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=111;ESP6500_EA_AC=6755,1839;ESP6500_EA_AGE=306.0+/-307.7;ESP6500_EA_GTC=2673,1409,215;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006113.4:coding-synonymous-near-splice;ESP6500_GL=VAV3;ESP6500_GRCh38_POSITION=1:107770636;ESP6500_GTC=3771,2331,396;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006113.4:c.648G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006113.4:p.(K216);ESP6500_MAF=21.3987,29.1686,24.0305;ESP6500_TAC=9873,3123	GT:AD:DP:GQ:PL	1/1:0,30:30:90:935,90,0
chr1	107772683	rs4611048	C	T	435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4611048;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|VAV3|VAV3|transcript|NM_006113.4|protein_coding|5/26|c.555+52G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4785;p3_1000G_AF=0.955471;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=16340;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108315305;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1531,215;ESP6500_AA_GTC=666,199,8;ESP6500_CDS_SIZES=NM_006113.4:2544;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=24;ESP6500_EA_AC=3979,3;ESP6500_EA_GTC=1988,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006113.4:intron;ESP6500_GL=VAV3;ESP6500_GRCh38_POSITION=1:107772683;ESP6500_GTC=2654,202,8;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006113.4:c.555+52G>A;ESP6500_MAF=0.0753,12.3139,3.8059;ESP6500_TAC=5510,218	GT:AD:DP:GQ:PL	1/1:0,14:14:42:464,42,0
chr1	107964919	rs71796067;rs750241388;rs869256250	GGCC	G	322.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.82;SOR=4.407;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71796067;dbSNPBuildID=138,144,147;ANN=G|5_prime_UTR_variant|MODIFIER|VAV3|VAV3|transcript|NM_006113.4|protein_coding|1/27|c.-53_-51delGGC|||||51|,G|intron_variant|MODIFIER|VAV3-AS1|VAV3-AS1|transcript|NR_046653.1|pseudogene|1/2|n.62+433_62+435delCGC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3226;p3_1000G_AF=0.644169;p3_1000G_AFR_AF=0.3578;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=5216;p3_1000G_EAS_AF=0.8264;p3_1000G_EUR_AF=0.7386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108507541;p3_1000G_GRCH37_REF=GGCC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:360,24,0
chr1	108159887	rs11185288	C	A	52.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.56;MQRankSum=-0.967;QD=17.59;ReadPosRankSum=-0.431;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11185288;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_013386.4|protein_coding|4/9|c.510+1295G>T||||||,A|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_213651.2|protein_coding|4/9|c.453+1295G>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=2250;p3_1000G_AF=0.449281;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=12741;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.3946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108702509;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,2:3:81:0|1:108159887_C_A:81,0,186
chr1	108159891	rs11185289	C	T	52.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.56;MQRankSum=-0.967;QD=17.59;ReadPosRankSum=-0.431;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11185289;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_013386.4|protein_coding|4/9|c.510+1291G>A||||||,T|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_213651.2|protein_coding|4/9|c.453+1291G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=2249;p3_1000G_AF=0.449081;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=12377;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.3946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108702513;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,2:3:81:0|1:108159887_C_A:81,0,186
chr1	108159900	rs11185290	A	T	94.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.9;MQRankSum=-1.15;QD=23.69;ReadPosRankSum=-0.674;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11185290;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_013386.4|protein_coding|4/9|c.510+1282T>A||||||,T|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_213651.2|protein_coding|4/9|c.453+1282T>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=2249;p3_1000G_AF=0.449081;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=11423;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.3946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108702522;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,3:4:99:0|1:108159887_C_A:123,0,183
chr1	108159916	rs829003	T	C	52.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=32.1;MQRankSum=-0.967;QD=17.59;ReadPosRankSum=-0.431;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs829003;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_013386.4|protein_coding|4/9|c.510+1266A>G||||||,C|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_213651.2|protein_coding|4/9|c.453+1266A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=3085;p3_1000G_AF=0.616014;p3_1000G_AFR_AF=0.8011;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=11013;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.6133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108702538;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,2:3:81:0|1:108159887_C_A:81,0,186
chr1	108159922	rs11185291	T	C	52.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=32.1;MQRankSum=-0.967;QD=17.59;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11185291;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_013386.4|protein_coding|4/9|c.510+1260A>G||||||,C|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_213651.2|protein_coding|4/9|c.453+1260A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=2244;p3_1000G_AF=0.448083;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=11298;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108702544;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,2:3:81:0|1:108159887_C_A:81,0,186
chr1	108161212	rs11185293	C	T	478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.976;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.327;SOR=0.703;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11185293;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|SLC25A24|SLC25A24|transcript|NM_013386.4|protein_coding|4/10|c.480G>A|p.Glu160Glu|700/3585|480/1434|160/477||,T|synonymous_variant|LOW|SLC25A24|SLC25A24|transcript|NM_213651.2|protein_coding|4/10|c.423G>A|p.Glu141Glu|611/3496|423/1377|141/458||;p3_1000G_AA=C|||;p3_1000G_AC=172;p3_1000G_AF=0.034345;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=16786;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0.0775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108703834;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=84,4322;ESP6500_AA_AGE=70.3+/-108.2;ESP6500_AA_GTC=0,84,2119;ESP6500_CDS_SIZES=NM_213651.2:1377,NM_013386.4:1434;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=104;ESP6500_EA_AC=765,7835;ESP6500_EA_AGE=180.2+/-229.2;ESP6500_EA_GTC=29,707,3564;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213651.2:coding-synonymous,NM_013386.4:coding-synonymous;ESP6500_GL=SLC25A24;ESP6500_GRCh38_POSITION=1:108161212;ESP6500_GTC=29,791,5683;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_213651.2:c.423G>A,NM_013386.4:c.480G>A;ESP6500_HGVS_PROTEIN_VAR=NM_213651.2:p.(E141),NM_013386.4:p.(E160);ESP6500_MAF=8.8953,1.9065,6.5278;ESP6500_TAC=849,12157	GT:AD:DP:GQ:PL	0/1:17,19:36:99:507,0,381
chr1	108181896	rs490680	A	G	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.789;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=-0.229;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs490680;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_013386.4|protein_coding|3/9|c.398+45T>C||||||,G|intron_variant|MODIFIER|SLC25A24|SLC25A24|transcript|NM_213651.2|protein_coding|3/9|c.341+45T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3447;p3_1000G_AF=0.688299;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=18018;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108724518;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3786,618;ESP6500_AA_AGE=264.7+/-266.2;ESP6500_AA_GTC=1632,522,48;ESP6500_CDS_SIZES=NM_213651.2:1377,NM_013386.4:1434;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=58;ESP6500_EA_AC=5880,2720;ESP6500_EA_AGE=429.0+/-356.1;ESP6500_EA_GTC=1987,1906,407;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213651.2:intron,NM_013386.4:intron;ESP6500_GL=SLC25A24;ESP6500_GRCh38_POSITION=1:108181896;ESP6500_GTC=3619,2428,455;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_213651.2:c.341+45T>C,NM_013386.4:c.398+45T>C;ESP6500_MAF=31.6279,14.0327,25.669;ESP6500_TAC=9666,3338	GT:AD:DP:GQ:PL	0/1:10,7:17:99:140,0,252
chr1	108223802	rs3879436	A	G	1705.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.55;QD=32.8;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3879436;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|NBPF4|NBPF4|transcript|NM_001143989.2|protein_coding|14/14|c.1876-56T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2026;p3_1000G_AF=0.404553;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=20056;p3_1000G_EAS_AF=0.5456;p3_1000G_EUR_AF=0.3807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108766424;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1734,156,0
chr1	108226633	rs148989127	G	A	36.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=18.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs148989127;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|NBPF4|NBPF4|transcript|NM_001143989.2|protein_coding|14/14|c.1875+46C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=13796;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108769255;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:64,6,0
chr1	108226685	rs2582071	G	A	171.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.93;QD=28.64;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs367656931;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|NBPF4|NBPF4|transcript|NM_001143989.2|protein_coding|14/15|c.1869C>T|p.Ser623Ser|2087/2499|1869/1917|623/638||;p3_1000G_AA=G|||;p3_1000G_AC=1100;p3_1000G_AF=0.219649;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs367656931;p3_1000G_DP=14496;p3_1000G_EAS_AF=0.3611;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108769307;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:200,18,0
chr1	108228902	rs61799399	C	T	229.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.27;QD=32.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200205508;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|NBPF4|NBPF4|transcript|NM_001143989.2|protein_coding|13/14|c.1660+18G>A||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:258,21,0
chr1	108452303	rs115514944	A	G	624.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.76;QD=24.99;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs115514944;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|NBPF6|NBPF6|transcript|NM_001143987.1|protein_coding|3/15|c.278+14A>G||||||,G|intron_variant|MODIFIER|NBPF6|NBPF6|transcript|NM_001143988.1|protein_coding|3/14|c.278+14A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3309;p3_1000G_AF=0.660743;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=11495;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.7813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108994925;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:653,75,0
chr1	108452330	rs145700606	G	T	513.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.98;QD=28.54;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs145700606;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|NBPF6|NBPF6|transcript|NM_001143987.1|protein_coding|3/15|c.278+41G>T||||||,T|intron_variant|MODIFIER|NBPF6|NBPF6|transcript|NM_001143988.1|protein_coding|3/14|c.278+41G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3382;p3_1000G_AF=0.675319;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=11669;p3_1000G_EAS_AF=0.8611;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108994952;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:542,54,0
chr1	108458964	rs200306538	G	A	51.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=10.35;ReadPosRankSum=0;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200306538;dbSNPBuildID=137;ANN=A|sequence_feature|LOW|NBPF6|NBPF6|domain:NBPF_2|NM_001143987.1|protein_coding|9/15|c.1064-94G>A||||||,A|sequence_feature|LOW|NBPF6|NBPF6|domain:NBPF_2|NM_001143988.1|protein_coding|8/14|c.977-94G>A||||||,A|intron_variant|MODIFIER|NBPF6|NBPF6|transcript|NM_001143987.1|protein_coding|9/15|c.1064-94G>A||||||,A|intron_variant|MODIFIER|NBPF6|NBPF6|transcript|NM_001143988.1|protein_coding|8/14|c.977-94G>A||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:48:80,0,48
chr1	108458981	rs201315189	T	A	51.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=10.35;ReadPosRankSum=0.842;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201315189;dbSNPBuildID=137;ANN=A|sequence_feature|LOW|NBPF6|NBPF6|domain:NBPF_2|NM_001143987.1|protein_coding|9/15|c.1064-77T>A||||||,A|sequence_feature|LOW|NBPF6|NBPF6|domain:NBPF_2|NM_001143988.1|protein_coding|8/14|c.977-77T>A||||||,A|intron_variant|MODIFIER|NBPF6|NBPF6|transcript|NM_001143987.1|protein_coding|9/15|c.1064-77T>A||||||,A|intron_variant|MODIFIER|NBPF6|NBPF6|transcript|NM_001143988.1|protein_coding|8/14|c.977-77T>A||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:48:80,0,48
chr1	108459067	rs201936153	G	A	36.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=18.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201936153;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|NBPF6|NBPF6|transcript|NM_001143987.1|protein_coding|10/16|c.1073G>A|p.Ser358Asn|1291/2222|1073/2004|358/667||,A|missense_variant|MODERATE|NBPF6|NBPF6|transcript|NM_001143988.1|protein_coding|9/15|c.986G>A|p.Ser329Asn|1204/2135|986/1917|329/638||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:64,6,0
chr1	108628124	rs2133198	C	T	459.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.24;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2133198;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|FAM102B|FAM102B|transcript|NM_001010883.2|protein_coding|6/10|c.557-43C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3737;p3_1000G_AF=0.746206;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=18888;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.9324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109170746;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8241;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2526,1880;ESP6500_AA_AGE=620.5+/-393.6;ESP6500_AA_GTC=754,1018,431;ESP6500_CDS_SIZES=NM_001010883.2:1083;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=41;ESP6500_EA_AC=8028,572;ESP6500_EA_AGE=788.6+/-407.6;ESP6500_EA_GTC=3745,538,17;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010883.2:intron;ESP6500_GL=FAM102B;ESP6500_GRCh38_POSITION=1:108628124;ESP6500_GTC=4499,1556,448;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001010883.2:c.557-43C>T;ESP6500_MAF=6.6512,42.6691,18.8528;ESP6500_TAC=10554,2452	GT:AD:DP:GQ:PL	1/1:0,13:13:39:488,39,0
chr1	108712891	rs3006864	G	T	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.057;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.42;ReadPosRankSum=0.953;SOR=0.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3006864;dbSNPBuildID=101;ANN=T|upstream_gene_variant|MODIFIER|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding||c.-43G>T|||||43|,T|intergenic_region|MODIFIER|PRPF38B-FNDC7|PRPF38B-FNDC7|intergenic_region|PRPF38B-FNDC7|||n.108712891G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4325;p3_1000G_AF=0.863618;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=16838;p3_1000G_EAS_AF=0.9018;p3_1000G_EUR_AF=0.9851;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109255513;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=920,464;ESP6500_AA_GTC=308,304,80;ESP6500_CG=-11.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=212;ESP6500_EA_AC=3137,45;ESP6500_EA_GTC=1546,45,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:108712891;ESP6500_GTC=1854,349,80;ESP6500_GTS=TT,TG,GG;ESP6500_MAF=1.4142,33.526,11.1476;ESP6500_TAC=4057,509	GT:AD:DP:GQ:PL	0/1:6,15:21:99:457,0,132
chr1	108713513	rs11102279	T	C	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.898;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.49;ReadPosRankSum=-1.796;SOR=0.766;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11102279;dbSNPBuildID=120;ANN=C|splice_region_variant&synonymous_variant|LOW|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding|2/13|c.66T>C|p.Val22Val|66/3060|66/2202|22/733||;p3_1000G_AA=T|||;p3_1000G_AC=385;p3_1000G_AF=0.076877;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=18496;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109256135;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4,1380;ESP6500_AA_GTC=0,4,688;ESP6500_CDS_SIZES=NM_001144937.1:2202;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=238;ESP6500_EA_AC=10,3172;ESP6500_EA_GTC=0,10,1581;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001144937.1:coding-synonymous;ESP6500_GL=FNDC7;ESP6500_GRCh38_POSITION=1:108713513;ESP6500_GTC=0,14,2269;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001144937.1:c.66T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001144937.1:p.(V22);ESP6500_MAF=0.3143,0.289,0.3066;ESP6500_TAC=14,4552	GT:AD:DP:GQ:PL	0/1:15,11:26:99:197,0,376
chr1	108717735	rs4970804	G	A	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.711;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.343;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.74;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4970804;dbSNPBuildID=111;ANN=A|sequence_feature|LOW|FNDC7|FNDC7|domain:Fibronectin_type-III_1|NM_001144937.1|protein_coding|2/12|c.83-42G>A||||||,A|intron_variant|MODIFIER|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding|2/12|c.83-42G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2930;p3_1000G_AF=0.585064;p3_1000G_AFR_AF=0.2398;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=20999;p3_1000G_EAS_AF=0.8185;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109260357;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=425,959;ESP6500_AA_GTC=62,301,329;ESP6500_CDS_SIZES=NM_001144937.1:2202;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=74;ESP6500_EA_AC=2018,1164;ESP6500_EA_GTC=623,772,196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001144937.1:intron;ESP6500_GL=FNDC7;ESP6500_GRCh38_POSITION=1:108717735;ESP6500_GTC=685,1073,525;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001144937.1:c.83-42G>A;ESP6500_MAF=36.5808,30.7081,46.4958;ESP6500_TAC=2443,2123	GT:AD:DP:GQ:PL	0/1:23,18:41:99:418,0,633
chr1	108722407	rs4423040	G	T	790.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.27;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4423040;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding|5/13|c.671G>T|p.Arg224Leu|671/3060|671/2202|224/733||;p3_1000G_AA=T|||;p3_1000G_AC=2898;p3_1000G_AF=0.578674;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=19501;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.6044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109265029;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1368,3038;ESP6500_AA_AGE=690.7+/-405.3;ESP6500_AA_GTC=210,948,1045;ESP6500_CDS_SIZES=NM_001144937.1:2202;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=71;ESP6500_EA_AC=5210,3390;ESP6500_EA_AGE=502.1+/-375.6;ESP6500_EA_GTC=1552,2106,642;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001144937.1:missense;ESP6500_GL=FNDC7;ESP6500_GRCh38_POSITION=1:108722407;ESP6500_GS=102;ESP6500_GTC=1762,3054,1687;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001144937.1:c.671G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001144937.1:p.(R224L);ESP6500_MAF=39.4186,31.0486,49.4233;ESP6500_PH=benign:0.0;ESP6500_TAC=6578,6428	GT:AD:DP:GQ:PL	1/1:0,29:29:87:819,87,0
chr1	108725951	rs4494160	T	C	937.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=0.495;SOR=0.45;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4494160;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding|6/13|c.1058T>C|p.Val353Ala|1058/3060|1058/2202|353/733||;p3_1000G_AA=C|||;p3_1000G_AC=2969;p3_1000G_AF=0.592851;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=18189;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.7127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109268573;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3481,925;ESP6500_AA_AGE=352.6+/-311.8;ESP6500_AA_GTC=1375,731,97;ESP6500_CDS_SIZES=NM_001144937.1:2202;ESP6500_CG=6.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=163;ESP6500_EA_AC=6132,2468;ESP6500_EA_AGE=406.4+/-348.8;ESP6500_EA_GTC=2179,1774,347;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001144937.1:missense;ESP6500_GL=FNDC7;ESP6500_GRCh38_POSITION=1:108725951;ESP6500_GS=64;ESP6500_GTC=3554,2505,444;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001144937.1:c.1058T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001144937.1:p.(V353A);ESP6500_MAF=28.6977,20.9941,26.088;ESP6500_PH=benign:0.0;ESP6500_TAC=9613,3393	GT:AD:DP:GQ:PL	0/1:20,32:52:99:966,0,539
chr1	108727780	rs10494096	G	A	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.013;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=4.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.432;SOR=1.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10494096;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding|6/12|c.1112-28G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1648;p3_1000G_AF=0.329073;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=21137;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.4841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109270402;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1229,3177;ESP6500_AA_AGE=425.1+/-340.7;ESP6500_AA_GTC=191,847,1165;ESP6500_CDS_SIZES=NM_001144937.1:2202;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=177;ESP6500_EA_AC=4122,4478;ESP6500_EA_AGE=564.8+/-388.4;ESP6500_EA_GTC=984,2154,1162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001144937.1:intron;ESP6500_GL=FNDC7;ESP6500_GRCh38_POSITION=1:108727780;ESP6500_GTC=1175,3001,2327;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001144937.1:c.1112-28G>A;ESP6500_MAF=47.9302,27.8938,41.1425;ESP6500_TAC=5351,7655	GT:AD:DP:GQ:PL	0/1:32,24:56:99:620,0,902
chr1	108730834	rs4970809	A	G	765.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-1.874;SOR=0.562;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4970809;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding|9/13|c.1785A>G|p.Gly595Gly|1785/3060|1785/2202|595/733||;p3_1000G_AA=A|||;p3_1000G_AC=2255;p3_1000G_AF=0.45028;p3_1000G_AFR_AF=0.5628;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=19950;p3_1000G_EAS_AF=0.2014;p3_1000G_EUR_AF=0.5388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109273456;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2475,1931;ESP6500_AA_AGE=624.6+/-394.4;ESP6500_AA_GTC=690,1095,418;ESP6500_CDS_SIZES=NM_001144937.1:2202;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=138;ESP6500_EA_AC=4686,3914;ESP6500_EA_AGE=606.1+/-395.1;ESP6500_EA_GTC=1286,2114,900;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001144937.1:coding-synonymous;ESP6500_GL=FNDC7;ESP6500_GRCh38_POSITION=1:108730834;ESP6500_GTC=1976,3209,1318;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001144937.1:c.1785A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001144937.1:p.(G595);ESP6500_MAF=45.5116,43.8266,44.9408;ESP6500_TAC=7161,5845	GT:AD:DP:GQ:PL	0/1:27,27:54:99:794,0,708
chr1	108730988	rs4970810	G	A	489.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.629;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.02;SOR=0.748;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4970810;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding|9/12|c.1879+60G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2258;p3_1000G_AF=0.450879;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=22134;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109273610;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,21:38:99:518,0,455
chr1	108741646	rs113890287	C	T	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=-0.431;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113890287;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding|11/12|c.2171-127C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19299;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109284268;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:63:63,0,70
chr1	108746614	rs1124426	C	A	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.637;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=0.366;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1124426;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding||c.-124C>A|||||49|,A|downstream_gene_variant|MODIFIER|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding||c.*4810C>A|||||3869|,A|intergenic_region|MODIFIER|FNDC7-STXBP3|FNDC7-STXBP3|intergenic_region|FNDC7-STXBP3|||n.108746614C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2940;p3_1000G_AF=0.587061;p3_1000G_AFR_AF=0.7526;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=15790;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.7416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109289236;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:56:56,0,157
chr1	108746731	rs1124427	C	G	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.125;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.89;ReadPosRankSum=-0.086;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1124427;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|1/19|c.-7C>G|||||7|,G|downstream_gene_variant|MODIFIER|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding||c.*4927C>G|||||3986|;p3_1000G_AA=C|||;p3_1000G_AC=2870;p3_1000G_AF=0.573083;p3_1000G_AFR_AF=0.7012;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=14284;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.7416;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109289353;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2885,1089;ESP6500_AA_GTC=1049,787,151;ESP6500_CDS_SIZES=NM_007269.2:1779;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=22;ESP6500_EA_AC=6079,1557;ESP6500_EA_GTC=2435,1209,174;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007269.2:utr-5;ESP6500_GL=STXBP3;ESP6500_GRCh38_POSITION=1:108746731;ESP6500_GTC=3484,1996,325;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_007269.2:c.-7C>G;ESP6500_MAF=20.3903,27.4031,22.7907;ESP6500_TAC=8964,2646	GT:AD:DP:GQ:PL	0/1:13,8:21:99:173,0,307
chr1	108746865	rs6604120	C	T	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=1.04;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6604120;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|FNDC7|FNDC7|transcript|NM_001144937.1|protein_coding||c.*5061C>T|||||4120|,T|intron_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|1/18|c.49+79C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2868;p3_1000G_AF=0.572684;p3_1000G_AFR_AF=0.7012;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=14321;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.7425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109289487;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:61:61,0,114
chr1	108756831	rs1277044	C	G	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.842;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1277044;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|4/18|c.258+65C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2883;p3_1000G_AF=0.575679;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=13217;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.7425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109299453;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:71:71,0,78
chr1	108758628	rs1277042	G	C	21.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.447;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=-0.812;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1277042;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|5/18|c.337+40G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2882;p3_1000G_AF=0.575479;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=13988;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.7425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109301250;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3061,1325;ESP6500_AA_GTC=1070,921,202;ESP6500_CDS_SIZES=NM_007269.2:1779;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=32;ESP6500_EA_AC=6560,1982;ESP6500_EA_GTC=2514,1532,225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007269.2:intron;ESP6500_GL=STXBP3;ESP6500_GRCh38_POSITION=1:108758628;ESP6500_GTC=3584,2453,427;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007269.2:c.337+40G>C;ESP6500_MAF=23.203,30.2098,25.5801;ESP6500_TAC=9621,3307	GT:AD:DP:GQ:PL	0/1:6,3:9:50:50,0,158
chr1	108779202	rs1759481	G	T	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.195;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-1.094;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1759481;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|8/18|c.685-84G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2885;p3_1000G_AF=0.576078;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=17903;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.7425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109321824;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:99:219,0,131
chr1	108782496	rs2275344	G	A	669.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.43;SOR=0.783;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275344;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|10/19|c.884G>A|p.Arg295Gln|959/2503|884/1779|295/592||;p3_1000G_AA=G|||;p3_1000G_AC=92;p3_1000G_AF=0.0183706;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17106;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109325118;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_007269.2:1779;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=116;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007269.2:missense;ESP6500_GL=STXBP3;ESP6500_GRCh38_POSITION=1:108782496;ESP6500_GS=43;ESP6500_GTC=0,3,6500;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007269.2:c.884G>A;ESP6500_HGVS_PROTEIN_VAR=NM_007269.2:p.(R295Q);ESP6500_MAF=0.0116,0.0454,0.0231;ESP6500_PH=possibly-damaging:0.469;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,28:48:99:1|0:108782490_G_C:698,0,413
chr1	108793789	rs1277016	G	A	344.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1277016;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|12/18|c.1029+142G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4025;p3_1000G_AF=0.803714;p3_1000G_AFR_AF=0.6498;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=18497;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109336411;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:373,30,0
chr1	108794950	rs1149158	A	C	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.01;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.769;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.74;ReadPosRankSum=-0.863;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1149158;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|13/18|c.1110+43A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2119;p3_1000G_AF=0.423123;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=17183;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109337572;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1260,3084;ESP6500_AA_GTC=185,890,1097;ESP6500_CDS_SIZES=NM_007269.2:1779;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=20;ESP6500_EA_AC=1916,6660;ESP6500_EA_GTC=216,1484,2588;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007269.2:intron;ESP6500_GL=STXBP3;ESP6500_GRCh38_POSITION=1:108794950;ESP6500_GTC=401,2374,3685;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_007269.2:c.1110+43A>C;ESP6500_MAF=22.3414,29.0055,24.582;ESP6500_TAC=3176,9744	GT:AD:DP:GQ:PL	0/1:3,13:16:64:360,0,64
chr1	108796239	rs1127635	G	C	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=-0.842;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1127635;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|14/19|c.1116G>C|p.Leu372Leu|1191/2503|1116/1779|372/592||;p3_1000G_AA=G|||;p3_1000G_AC=1650;p3_1000G_AF=0.329473;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=18139;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.4334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109338861;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1335,3071;ESP6500_AA_AGE=440.4+/-346.0;ESP6500_AA_GTC=212,911,1080;ESP6500_CDS_SIZES=NM_007269.2:1779;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=57;ESP6500_EA_AC=3818,4782;ESP6500_EA_AGE=536.8+/-383.1;ESP6500_EA_GTC=825,2168,1307;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007269.2:coding-synonymous;ESP6500_GL=STXBP3;ESP6500_GRCh38_POSITION=1:108796239;ESP6500_GTC=1037,3079,2387;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007269.2:c.1116G>C;ESP6500_HGVS_PROTEIN_VAR=NM_007269.2:p.(L372);ESP6500_MAF=44.3953,30.2996,39.6202;ESP6500_TAC=5153,7853	GT:AD:DP:GQ:PL	0/1:2,4:6:66:152,0,66
chr1	108796792	rs35138668;rs796617943	GT	G	171.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.29;SOR=0.871;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35138668;dbSNPBuildID=126,146;ANN=G|intron_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|15/18|c.1356+78delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2262;p3_1000G_AF=0.451677;p3_1000G_AFR_AF=0.3359;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=19368;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.3211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109339414;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,9:17:99:209,0,173
chr1	108800094	rs1277239	A	G	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.44;ReadPosRankSum=1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1277239;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|16/18|c.1450-126A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2079;p3_1000G_AF=0.415136;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=17533;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109342716;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:28:114,0,28
chr1	108808879	rs1149154	A	G	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-0.269;SOR=2.03;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1149154;dbSNPBuildID=87;ANN=G|3_prime_UTR_variant|MODIFIER|STXBP3|STXBP3|transcript|NM_007269.2|protein_coding|19/19|c.*2A>G|||||2|;p3_1000G_AA=G|||;p3_1000G_AC=2040;p3_1000G_AF=0.407348;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=17367;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.2575;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109351501;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1092,3314;ESP6500_AA_AGE=710.1+/-407.8;ESP6500_AA_GTC=134,824,1245;ESP6500_CDS_SIZES=NM_007269.2:1779;ESP6500_CG=-10.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=93;ESP6500_EA_AC=1991,6609;ESP6500_EA_AGE=719.5+/-406.3;ESP6500_EA_GTC=219,1553,2528;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007269.2:utr-3;ESP6500_GL=STXBP3;ESP6500_GRCh38_POSITION=1:108808879;ESP6500_GTC=353,2377,3773;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007269.2:c.*2A>G;ESP6500_MAF=23.1512,24.7844,23.7044;ESP6500_TAC=3083,9923	GT:AD:DP:GQ:PL	0/1:11,6:17:99:165,0,330
chr1	108816133	rs11453763	A	AT	48.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.22;ReadPosRankSum=-0.863;SOR=2.16;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11453763;dbSNPBuildID=138;ANN=AT|3_prime_UTR_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|16/16|c.*37dupA|||||37|,AT|non_coding_transcript_exon_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|14/14|n.2676dupA||||||;p3_1000G_AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;p3_1000G_AC=1650;p3_1000G_AF=0.329473;p3_1000G_AFR_AF=0.2474;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=16993;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.4414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109358755;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:17,5:22:86:86,0,450
chr1	108820453	rs1333128	T	C	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.48;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.055;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1333128;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|14/15|c.2249+92A>G||||||,C|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|12/13|n.2377+2917A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1935;p3_1000G_AF=0.386382;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=19206;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.2565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109363075;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:166,0,246
chr1	108820518	rs1333129	T	C	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.677;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.32;ReadPosRankSum=-0.391;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1333129;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|14/15|c.2249+27A>G||||||,C|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|12/13|n.2377+2852A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1934;p3_1000G_AF=0.386182;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=17576;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.2565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109363140;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1214,3192;ESP6500_AA_AGE=420.2+/-338.9;ESP6500_AA_GTC=177,860,1166;ESP6500_CDS_SIZES=NM_152763.4:2511;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=96;ESP6500_EA_AC=1982,6618;ESP6500_EA_AGE=346.3+/-326.1;ESP6500_EA_GTC=219,1544,2537;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152763.4:intron;ESP6500_GL=AKNAD1;ESP6500_GRCh38_POSITION=1:108820518;ESP6500_GTC=396,2404,3703;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152763.4:c.2249+27A>G;ESP6500_MAF=23.0465,27.5533,24.5733;ESP6500_TAC=3196,9810	GT:AD:DP:GQ:PL	0/1:20,11:31:99:224,0,451
chr1	108820610	rs1333130	T	C	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=1.44;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1333130;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|14/16|c.2184A>G|p.Lys728Lys|2463/3063|2184/2511|728/836||,C|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|12/13|n.2377+2760A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1935;p3_1000G_AF=0.386382;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=5833;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.2565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109363232;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1216,3190;ESP6500_AA_AGE=414.6+/-336.9;ESP6500_AA_GTC=178,860,1165;ESP6500_CDS_SIZES=NM_152763.4:2511;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=92;ESP6500_EA_AC=1983,6617;ESP6500_EA_AGE=345.0+/-325.6;ESP6500_EA_GTC=220,1543,2537;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152763.4:coding-synonymous;ESP6500_GL=AKNAD1;ESP6500_GRCh38_POSITION=1:108820610;ESP6500_GTC=398,2403,3702;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152763.4:c.2184A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152763.4:p.(K728);ESP6500_MAF=23.0581,27.5987,24.5963;ESP6500_TAC=3199,9807	GT:AD:DP:GQ:PL	0/1:15,10:25:99:248,0,360
chr1	108823664	rs7522157	C	T	568.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.393;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.544;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7522157;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|12/16|c.1961G>A|p.Cys654Tyr|2240/3063|1961/2511|654/836||,T|non_coding_transcript_exon_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|11/14|n.2171G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=830;p3_1000G_AF=0.165735;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=19769;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.2873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109366286;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=474,3932;ESP6500_AA_AGE=222.6+/-239.4;ESP6500_AA_GTC=24,426,1753;ESP6500_CDS_SIZES=NM_152763.4:2511;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=114;ESP6500_EA_AC=2706,5894;ESP6500_EA_AGE=434.1+/-357.6;ESP6500_EA_GTC=434,1838,2028;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152763.4:missense;ESP6500_GL=AKNAD1;ESP6500_GRCh38_POSITION=1:108823664;ESP6500_GS=194;ESP6500_GTC=458,2264,3781;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152763.4:c.1961G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152763.4:p.(C654Y);ESP6500_MAF=31.4651,10.7581,24.4503;ESP6500_PH=benign:0.002;ESP6500_TAC=3180,9826	GT:AD:DP:GQ:PL	0/1:15,23:38:99:597,0,389
chr1	108823748	rs7522260	C	T	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.148;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=0.591;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7522260;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|11/15|c.1937-60G>A||||||,T|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|10/13|n.2147-60G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2364;p3_1000G_AF=0.472045;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=19723;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.659;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109366370;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,11:16:99:291,0,136
chr1	108834535	rs540382671;rs5776950;rs5776951	TA	T	290.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.36;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5776950,rs5776951;dbSNPBuildID=137,142,129;ANN=T|splice_region_variant&intron_variant|LOW|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|8/15|c.1665-8delT||||||,T|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|8/13|n.1956+3014delT||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:39:328,39,0
chr1	108848864	rs1149142	G	A	722.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.91;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1149142;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|4/15|c.1182+48C>T||||||,A|intron_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|5/13|n.1602+48C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4951;p3_1000G_AF=0.988618;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=15918;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109391486;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4244,158;ESP6500_AA_AGE=100.7+/-139.4;ESP6500_AA_GTC=2046,152,3;ESP6500_CDS_SIZES=NM_152763.4:2511;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=89;ESP6500_EA_AC=8595,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4297,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152763.4:intron;ESP6500_GL=AKNAD1;ESP6500_GRCh38_POSITION=1:108848864;ESP6500_GTC=6343,153,3;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152763.4:c.1182+48C>T;ESP6500_MAF=0.0116,3.5893,1.2233;ESP6500_TAC=12839,159	GT:AD:DP:GQ:PL	1/1:0,25:25:75:751,75,0
chr1	108852483	rs1277207	C	T	3211.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=0.866;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1277207;dbSNPBuildID=87;ANN=T|missense_variant|MODERATE|AKNAD1|AKNAD1|transcript|NM_152763.4|protein_coding|2/16|c.182G>A|p.Ser61Asn|461/3063|182/2511|61/836||,T|upstream_gene_variant|MODIFIER|SPATA42|SPATA42|transcript|NR_034168.1|pseudogene||n.-4734C>T|||||4734|,T|upstream_gene_variant|MODIFIER|SPATA42|SPATA42|transcript|NR_049777.1|pseudogene||n.-4734C>T|||||4734|,T|non_coding_transcript_exon_variant|MODIFIER|AKNAD1|AKNAD1|transcript|NR_049760.1|pseudogene|3/14|n.602G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4342;p3_1000G_AF=0.867013;p3_1000G_AFR_AF=0.8797;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=19780;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.7903;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109395105;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3817,589;ESP6500_AA_AGE=259.8+/-263.3;ESP6500_AA_GTC=1652,513,38;ESP6500_CDS_SIZES=NM_152763.4:2511;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=124;ESP6500_EA_AC=7020,1580;ESP6500_EA_AGE=295.8+/-302.6;ESP6500_EA_GTC=2872,1276,152;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152763.4:missense;ESP6500_GL=AKNAD1;ESP6500_GRCh38_POSITION=1:108852483;ESP6500_GS=46;ESP6500_GTC=4524,1789,190;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152763.4:c.182G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152763.4:p.(S61N);ESP6500_MAF=18.3721,13.3681,16.6769;ESP6500_PH=benign:0.0;ESP6500_TAC=10837,2169	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3240,294,0
chr1	108914529	rs11102642	C	T	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11102642;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|GPSM2|GPSM2|transcript|NM_001321038.1|protein_coding|11/14|c.1263+121C>T||||||,T|intron_variant|MODIFIER|GPSM2|GPSM2|transcript|NM_013296.4|protein_coding|11/14|c.1263+121C>T||||||,T|intron_variant|MODIFIER|GPSM2|GPSM2|transcript|NM_001321039.1|protein_coding|11/15|c.1263+121C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=958;p3_1000G_AF=0.191294;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=14209;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.2237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109457151;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	108943574	rs338466	A	G	1770.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=0.865;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs338466;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|CLCC1|CLCC1|transcript|NM_001048210.2|protein_coding|6/12|c.603T>C|p.Thr201Thr|743/4835|603/1656|201/551||,G|synonymous_variant|LOW|CLCC1|CLCC1|transcript|NM_015127.4|protein_coding|6/12|c.453T>C|p.Thr151Thr|603/4695|453/1506|151/501||,G|intron_variant|MODIFIER|CLCC1|CLCC1|transcript|NM_001278202.1|protein_coding|3/8|c.340-2076T>C||||||,G|intron_variant|MODIFIER|CLCC1|CLCC1|transcript|NM_001278203.1|protein_coding|3/6|c.340-3792T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2696;p3_1000G_AF=0.538339;p3_1000G_AFR_AF=0.7579;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=19123;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.5219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109486196;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3198,1208;ESP6500_AA_AGE=419.6+/-338.7;ESP6500_AA_GTC=1169,860,174;ESP6500_CDS_SIZES=NM_015127.3:1506,NM_001048210.1:1656;ESP6500_CG=-8.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=97;ESP6500_EA_AC=4538,4062;ESP6500_EA_AGE=558.9+/-387.3;ESP6500_EA_GTC=1185,2168,947;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015127.3:coding-synonymous,NM_001048210.1:coding-synonymous;ESP6500_GL=CLCC1;ESP6500_GRCh38_POSITION=1:108943574;ESP6500_GTC=2354,3028,1121;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015127.3:c.453T>C,NM_001048210.1:c.603T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015127.3:p.(T151),NM_001048210.1:p.(T201);ESP6500_MAF=47.2326,27.4172,40.5198;ESP6500_TAC=7736,5270	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1799,183,0
chr1	108943618	rs3215062;rs397840046	TA	T	1372.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=1.347;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3215062;dbSNPBuildID=132,138;ANN=T|splice_region_variant&intron_variant|LOW|CLCC1|CLCC1|transcript|NM_001048210.2|protein_coding|5/11|c.562-4delT||||||,T|splice_region_variant&intron_variant|LOW|CLCC1|CLCC1|transcript|NM_015127.4|protein_coding|5/11|c.412-4delT||||||,T|intron_variant|MODIFIER|CLCC1|CLCC1|transcript|NM_001278202.1|protein_coding|3/8|c.340-2121delT||||||,T|intron_variant|MODIFIER|CLCC1|CLCC1|transcript|NM_001278203.1|protein_coding|3/6|c.340-3837delT||||||;p3_1000G_AA=AAAA|AAAA|AAA|deletion;p3_1000G_AC=2422;p3_1000G_AF=0.483626;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.4726;p3_1000G_AN=5008;p3_1000G_DP=20144;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.4632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109486240;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=INDEL;ESP6500_AA_AC=2592,1674;ESP6500_AA_GTC=783,1026,324;ESP6500_CDS_SIZES=NM_015127.3:1506,NM_001048210.1:1656;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=97;ESP6500_EA_AC=3768,4486;ESP6500_EA_GTC=844,2080,1203;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015127.3:intron,NM_001048210.1:intron;ESP6500_GL=CLCC1;ESP6500_GRCh38_POSITION=1:108943618;ESP6500_GTC=1627,3106,1527;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015127.3:c.412-4del1,NM_001048210.1:c.562-4del1;ESP6500_MAF=45.6506,39.2405,49.2013;ESP6500_TAC=6360,6160	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1410,123,0
chr1	108947835	rs839543	T	C	313.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.64;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs839543;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CLCC1|CLCC1|transcript|NM_001048210.2|protein_coding|3/11|c.232-117A>G||||||,C|intron_variant|MODIFIER|CLCC1|CLCC1|transcript|NM_001278202.1|protein_coding|2/8|c.232-117A>G||||||,C|intron_variant|MODIFIER|CLCC1|CLCC1|transcript|NM_001278203.1|protein_coding|2/6|c.232-117A>G||||||,C|intron_variant|MODIFIER|CLCC1|CLCC1|transcript|NM_015127.4|protein_coding|3/11|c.232-117A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2638;p3_1000G_AF=0.526757;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=18960;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.5318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109490457;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:342,24,0
chr1	108986700	rs397818205;rs61696019;~rs61696019	T	TAA	322.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61696019,rs80014712;dbSNPBuildID=132,138;ANN=TAA|intron_variant|MODIFIER|WDR47|WDR47|transcript|NM_001142550.1|protein_coding|9/14|c.1792-21_1792-20insTT||||||,TAA|intron_variant|MODIFIER|WDR47|WDR47|transcript|NM_001142551.1|protein_coding|9/14|c.1768-21_1768-20insTT||||||,TAA|intron_variant|MODIFIER|WDR47|WDR47|transcript|NM_014969.5|protein_coding|9/14|c.1771-21_1771-20insTT||||||;p3_1000G_AC=4911;p3_1000G_AF=0.980631;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16839;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109529322;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4040,13,213;ESP6500_AA_GTC=1918,10,194,1,1,9;ESP6500_CDS_SIZES=NM_014969.5:2763,NM_014969.5:2763,NM_001142551.1:2760,NM_001142551.1:2760,NM_001142550.1:2784,NM_001142550.1:2784;ESP6500_CG=-2.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=28;ESP6500_EA_AC=8221,2,21;ESP6500_EA_GTC=4100,2,19,0,0,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014969.5:intron,NM_014969.5:intron,NM_001142551.1:intron,NM_001142551.1:intron,NM_001142550.1:intron,NM_001142550.1:intron;ESP6500_GL=WDR47;ESP6500_GRCh38_POSITION=1:108986700;ESP6500_GTC=6018,12,213,1,1,10;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_014969.5:c.1771-21_1771-20insTC,NM_014969.5:c.1771-21_1771-20insTT,NM_001142551.1:c.1768-21_1768-20insTC,NM_001142551.1:c.1768-21_1768-20insTT,NM_001142550.1:c.1792-21_1792-20insTC,NM_001142550.1:c.1792-21_1792-20insTT;ESP6500_MAF=0.279,5.2977,1.9904;ESP6500_TAC=12261,15,234	GT:AD:DP:GQ:PL	1/1:0,8:8:24:360,24,0
chr1	109002424	rs184606	C	T	168.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs184606;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|WDR47|WDR47|transcript|NM_001142550.1|protein_coding|6/14|c.1279-22G>A||||||,T|intron_variant|MODIFIER|WDR47|WDR47|transcript|NM_001142551.1|protein_coding|6/14|c.1255-22G>A||||||,T|intron_variant|MODIFIER|WDR47|WDR47|transcript|NM_014969.5|protein_coding|6/14|c.1258-22G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4915;p3_1000G_AF=0.98143;p3_1000G_AFR_AF=0.9312;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17095;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109545046;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4175,209;ESP6500_AA_GTC=1988,199,5;ESP6500_CDS_SIZES=NM_014969.5:2763,NM_001142551.1:2760,NM_001142550.1:2784;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=23;ESP6500_EA_AC=8573,7;ESP6500_EA_GTC=4283,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014969.5:intron,NM_001142551.1:intron,NM_001142550.1:intron;ESP6500_GL=WDR47;ESP6500_GRCh38_POSITION=1:109002424;ESP6500_GTC=6271,206,5;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014969.5:c.1258-22G>A,NM_001142551.1:c.1255-22G>A,NM_001142550.1:c.1279-22G>A;ESP6500_MAF=0.0816,4.7673,1.6662;ESP6500_TAC=12748,216	GT:AD:DP:GQ:PL	1/1:0,6:6:18:197,18,0
chr1	109092776	rs512671	A	G	205.84	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.41;ReadPosRankSum=1.47;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs512671;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|TMEM167B|TMEM167B|transcript|NM_001322248.1|protein_coding|1/2|c.11-114A>G||||||,G|intron_variant|MODIFIER|TMEM167B|TMEM167B|transcript|NR_136242.1|pseudogene|2/3|n.232-114A>G||||||,G|intron_variant|MODIFIER|TMEM167B|TMEM167B|transcript|NR_136243.1|pseudogene|1/1|n.143-1641A>G||||||,G|intron_variant|MODIFIER|TMEM167B|TMEM167B|transcript|NM_020141.3|protein_coding|1/2|c.11-114A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2364;p3_1000G_AF=0.472045;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=18867;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109635398;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,6:7:18:234,0,18
chr1	109106426	rs654458	T	A	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.196;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-1.937;SOR=0.042;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs654458;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|C1orf194|C1orf194|transcript|NM_001122961.1|protein_coding|4/4|c.403+109A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2453;p3_1000G_AF=0.489816;p3_1000G_AFR_AF=0.6876;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=19920;p3_1000G_EAS_AF=0.4663;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109649048;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,5:16:99:0|1:109106426_T_A:174,0,808
chr1	109106431	rs654464	T	C	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.809;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-1.375;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs654464;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|C1orf194|C1orf194|transcript|NM_001122961.1|protein_coding|4/4|c.403+104A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1969;p3_1000G_AF=0.393171;p3_1000G_AFR_AF=0.4675;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=19718;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109649053;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,5:17:99:0|1:109106426_T_A:174,0,808
chr1	109113798	rs536176	T	C	101.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=1.28;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs536176;dbSNPBuildID=83;ANN=C|5_prime_UTR_variant|MODIFIER|C1orf194|C1orf194|transcript|NM_001122961.1|protein_coding|1/5|c.-121A>G|||||121|,C|upstream_gene_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding||c.-386T>C|||||165|,C|upstream_gene_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding||c.-386T>C|||||165|,C|upstream_gene_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding||c.-50733T>C|||||165|;p3_1000G_AA=C|||;p3_1000G_AC=2690;p3_1000G_AF=0.537141;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=10794;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.3718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109656420;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:21:130,0,21
chr1	109114324	rs667524	T	C	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.4;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs667524;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|1/22|c.141T>C|p.His47His|362/7032|141/3042|47/1013||,C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|1/20|c.141T>C|p.His47His|362/6771|141/2781|47/926||,C|5_prime_UTR_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|1/21|c.-45T>C|||||50207|,C|upstream_gene_variant|MODIFIER|C1orf194|C1orf194|transcript|NM_001122961.1|protein_coding||c.-647A>G|||||467|;p3_1000G_AA=C|||;p3_1000G_AC=2690;p3_1000G_AF=0.537141;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=15146;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109656946;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2967,1439;ESP6500_AA_GTC=986,995,222;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267048.1:2781;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=22;ESP6500_EA_AC=3079,5515;ESP6500_EA_GTC=586,1907,1804;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:coding-synonymous,NM_001267048.1:coding-synonymous;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109114324;ESP6500_GTC=1572,2902,2026;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.141T>C,NM_001267048.1:c.141T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(H47),NM_001267048.1:p.(H47);ESP6500_MAF=35.8273,32.66,46.5077;ESP6500_TAC=6046,6954	GT:AD:DP:GQ:PL	0/1:10,7:17:99:197,0,257
chr1	109114359	rs586530	T	C	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=2.06;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs586530;dbSNPBuildID=83;ANN=C|upstream_gene_variant|MODIFIER|C1orf194|C1orf194|transcript|NM_001122961.1|protein_coding||c.-682A>G|||||502|,C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|1/21|c.153+23T>C||||||,C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|1/19|c.153+23T>C||||||,C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|1/20|c.-33+23T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1966;p3_1000G_AF=0.392572;p3_1000G_AFR_AF=0.6672;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=16870;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.2127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109656981;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2376,2018;ESP6500_AA_GTC=661,1054,482;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267048.1:2781;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=12;ESP6500_EA_AC=1444,7124;ESP6500_EA_GTC=156,1132,2996;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:intron,NM_001267048.1:intron;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109114359;ESP6500_GTC=817,2186,3478;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.153+23T>C,NM_001267048.1:c.153+23T>C;ESP6500_MAF=16.8534,45.9263,29.4708;ESP6500_TAC=3820,9142	GT:AD:DP:GQ:PL	0/1:5,4:9:99:144,0,165
chr1	109161768	rs643197	C	G	1156.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=3.193;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs643197;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|1/21|c.154-126C>G||||||,G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|1/19|c.154-126C>G||||||,G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|1/20|c.-32-2731C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4861;p3_1000G_AF=0.970647;p3_1000G_AFR_AF=0.9448;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19033;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109704390;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1185,99,0
chr1	109161996	rs678238	A	G	1758.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=1.287;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs678238;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|2/22|c.256A>G|p.Ile86Val|477/7032|256/3042|86/1013||,G|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|2/20|c.256A>G|p.Ile86Val|477/6771|256/2781|86/926||,G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|1/20|c.-32-2503A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4986;p3_1000G_AF=0.995607;p3_1000G_AFR_AF=0.9849;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17520;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109704618;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4348,58;ESP6500_AA_AGE=55.5+/-91.7;ESP6500_AA_GTC=2145,58,0;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267048.1:2781;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=37;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020775.4:missense,NM_001267048.1:missense;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109161996;ESP6500_GS=29,29;ESP6500_GTC=6444,59,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.256A>G,NM_001267048.1:c.256A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(I86V),NM_001267048.1:p.(I86V);ESP6500_MAF=0.0116,1.3164,0.4536;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12947,59	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1787,159,0
chr1	109171781	rs17014495	C	A	870.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17014495;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|3/21|c.468-85C>A||||||,A|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|3/19|c.468-85C>A||||||,A|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|2/20|c.162-85C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2630;p3_1000G_AF=0.52516;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=19530;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109714403;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:899,69,0
chr1	109172128	rs2297758	T	C	789.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297758;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|4/21|c.615+115T>C||||||,C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|4/19|c.615+115T>C||||||,C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|3/20|c.309+115T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2616;p3_1000G_AF=0.522364;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=19224;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109714750;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:818,66,0
chr1	109177020	rs75851782	T	G	21.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=22;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201112658;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|7/21|c.952+3183T>G||||||,G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|6/19|c.780+3463T>G||||||,G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|6/20|c.646+3183T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1595;p3_1000G_AF=0.31849;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs201112658;p3_1000G_DP=12333;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109719642;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	109184907	rs12036884	G	A	212.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12036884;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding||c.-2737G>A|||||1642|,A|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|7/21|c.953-138G>A||||||,A|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|6/19|c.781-3270G>A||||||,A|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|6/20|c.647-138G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=777;p3_1000G_AF=0.155152;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=20115;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109727529;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:241,21,0
chr1	109189458	rs603285	C	T	321.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs603285;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|10/21|c.1349-134C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|8/19|c.1088-134C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|9/20|c.1043-134C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|3/14|c.335-134C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3531;p3_1000G_AF=0.705072;p3_1000G_AFR_AF=0.2844;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=18126;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.7485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109732080;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:350,30,0
chr1	109191535	rs606066	T	C	1200.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=1.209;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs606066;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|12/21|c.1545+64T>C||||||,C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|10/19|c.1284+64T>C||||||,C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|11/20|c.1239+64T>C||||||,C|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|5/14|c.531+64T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3828;p3_1000G_AF=0.764377;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=19140;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.7565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109734157;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1229,107,0
chr1	109191919	rs645128	C	T	1381.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.13;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs645128;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|13/21|c.1683+56C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|11/19|c.1422+56C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|12/20|c.1377+56C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|6/14|c.669+56C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4370;p3_1000G_AF=0.872604;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=19286;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8529;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109734541;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1410,128,0
chr1	109192676	rs658779	T	C	2473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.36;SOR=1.308;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs658779;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|14/22|c.1749T>C|p.Gly583Gly|1970/7032|1749/3042|583/1013||,C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|12/20|c.1488T>C|p.Gly496Gly|1709/6771|1488/2781|496/926||,C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|13/21|c.1443T>C|p.Gly481Gly|1849/6942|1443/2709|481/902||,C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|7/15|c.735T>C|p.Gly245Gly|1830/6892|735/2028|245/675||;p3_1000G_AA=C|||;p3_1000G_AC=3714;p3_1000G_AF=0.741613;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=18447;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109735298;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1815,2591;ESP6500_AA_AGE=639.6+/-397.1;ESP6500_AA_GTC=373,1069,761;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=-9.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=256;ESP6500_EA_AC=6463,2137;ESP6500_EA_AGE=367.6+/-334.8;ESP6500_EA_GTC=2424,1615,261;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:coding-synonymous,NM_001267049.1:coding-synonymous,NM_001267048.1:coding-synonymous;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109192676;ESP6500_GTC=2797,2684,1022;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.1749T>C,NM_001267049.1:c.699T>C,NM_001267048.1:c.1488T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(G583),NM_001267049.1:p.(G233),NM_001267048.1:p.(G496);ESP6500_MAF=24.8488,41.1938,36.3525;ESP6500_TAC=8278,4728	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2502,216,0
chr1	109192794	rs659543	A	C	3003.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=0.924;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs659543;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|14/22|c.1867A>C|p.Thr623Pro|2088/7032|1867/3042|623/1013||,C|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|12/20|c.1606A>C|p.Thr536Pro|1827/6771|1606/2781|536/926||,C|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|13/21|c.1561A>C|p.Thr521Pro|1967/6942|1561/2709|521/902||,C|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|7/15|c.853A>C|p.Thr285Pro|1948/6892|853/2028|285/675||;p3_1000G_AA=C|||;p3_1000G_AC=3706;p3_1000G_AF=0.740016;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=19387;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.7565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109735416;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1815,2591;ESP6500_AA_AGE=639.3+/-397.1;ESP6500_AA_GTC=373,1069,761;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=-7.9;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=143;ESP6500_EA_AC=6461,2139;ESP6500_EA_AGE=366.7+/-334.4;ESP6500_EA_GTC=2424,1613,263;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020775.4:missense,NM_001267049.1:missense,NM_001267048.1:missense;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109192794;ESP6500_GS=38,38,38;ESP6500_GTC=2797,2682,1024;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.1867A>C,NM_001267049.1:c.817A>C,NM_001267048.1:c.1606A>C;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(T623P),NM_001267049.1:p.(T273P),NM_001267048.1:p.(T536P);ESP6500_MAF=24.8721,41.1938,36.3678;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=8276,4730	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3032,282,0
chr1	109192882	rs659659	T	C	2065.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=2.001;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs659659;dbSNPBuildID=83;ANN=C|splice_region_variant&intron_variant|LOW|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|14/21|c.1947+8T>C||||||,C|splice_region_variant&intron_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|12/19|c.1686+8T>C||||||,C|splice_region_variant&intron_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|13/20|c.1641+8T>C||||||,C|splice_region_variant&intron_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|7/14|c.933+8T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3713;p3_1000G_AF=0.741414;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=20390;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.7565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109735504;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1816,2590;ESP6500_AA_AGE=639.4+/-397.1;ESP6500_AA_GTC=374,1068,761;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=87;ESP6500_EA_AC=6463,2137;ESP6500_EA_AGE=367.6+/-334.8;ESP6500_EA_GTC=2424,1615,261;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:intron,NM_001267049.1:intron,NM_001267048.1:intron;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109192882;ESP6500_GTC=2798,2683,1022;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.1947+8T>C,NM_001267049.1:c.897+8T>C,NM_001267048.1:c.1686+8T>C;ESP6500_MAF=24.8488,41.2165,36.3448;ESP6500_TAC=8279,4727	GT:AD:DP:GQ:PL	1/1:0,58:58:99:2094,174,0
chr1	109194441	rs2359246	C	T	863.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.706;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=0.343;SOR=0.613;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2359246;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|15/22|c.1968C>T|p.Asn656Asn|2189/7032|1968/3042|656/1013||,T|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|13/20|c.1707C>T|p.Asn569Asn|1928/6771|1707/2781|569/926||,T|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|14/21|c.1662C>T|p.Asn554Asn|2068/6942|1662/2709|554/902||,T|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|8/15|c.954C>T|p.Asn318Asn|2049/6892|954/2028|318/675||;p3_1000G_AA=C|||;p3_1000G_AC=3574;p3_1000G_AF=0.713658;p3_1000G_AFR_AF=0.3033;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=17619;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109737063;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1623,2783;ESP6500_AA_AGE=500.3+/-364.7;ESP6500_AA_GTC=298,1027,878;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=-4.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=106;ESP6500_EA_AC=6527,2073;ESP6500_EA_AGE=718.3+/-406.2;ESP6500_EA_GTC=2473,1581,246;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:coding-synonymous,NM_001267049.1:coding-synonymous,NM_001267048.1:coding-synonymous;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109194441;ESP6500_GTC=2771,2608,1124;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.1968C>T,NM_001267049.1:c.918C>T,NM_001267048.1:c.1707C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(N656),NM_001267049.1:p.(N306),NM_001267048.1:p.(N569);ESP6500_MAF=24.1047,36.8361,37.3366;ESP6500_TAC=8150,4856	GT:AD:DP:GQ:PL	0/1:51,42:93:99:892,0,1357
chr1	109194468	rs2359245	G	A	889.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.27;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=1.16;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2359245;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|15/22|c.1995G>A|p.Pro665Pro|2216/7032|1995/3042|665/1013||,A|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|13/20|c.1734G>A|p.Pro578Pro|1955/6771|1734/2781|578/926||,A|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|14/21|c.1689G>A|p.Pro563Pro|2095/6942|1689/2709|563/902||,A|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|8/15|c.981G>A|p.Pro327Pro|2076/6892|981/2028|327/675||;p3_1000G_AA=G|||;p3_1000G_AC=3582;p3_1000G_AF=0.715256;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=18312;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109737090;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1636,2770;ESP6500_AA_AGE=502.2+/-365.2;ESP6500_AA_GTC=306,1024,873;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=124;ESP6500_EA_AC=6524,2076;ESP6500_EA_AGE=718.2+/-406.2;ESP6500_EA_GTC=2471,1582,247;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:coding-synonymous,NM_001267049.1:coding-synonymous,NM_001267048.1:coding-synonymous;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109194468;ESP6500_GTC=2777,2606,1120;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.1995G>A,NM_001267049.1:c.945G>A,NM_001267048.1:c.1734G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(P665),NM_001267049.1:p.(P315),NM_001267048.1:p.(P578);ESP6500_MAF=24.1395,37.1312,37.2597;ESP6500_TAC=8160,4846	GT:AD:DP:GQ:PL	0/1:62,44:106:99:918,0,1634
chr1	109194510	rs2359244	T	C	844.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.27;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=6.546;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.421;SOR=1.35;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2359244;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|15/22|c.2037T>C|p.Thr679Thr|2258/7032|2037/3042|679/1013||,C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|13/20|c.1776T>C|p.Thr592Thr|1997/6771|1776/2781|592/926||,C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|14/21|c.1731T>C|p.Thr577Thr|2137/6942|1731/2709|577/902||,C|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|8/15|c.1023T>C|p.Thr341Thr|2118/6892|1023/2028|341/675||;p3_1000G_AA=T|||;p3_1000G_AC=3839;p3_1000G_AF=0.766573;p3_1000G_AFR_AF=0.4667;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=18438;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.7654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109737132;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9305;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2147,2259;ESP6500_AA_AGE=580.3+/-385.1;ESP6500_AA_GTC=523,1101,579;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=117;ESP6500_EA_AC=6541,2059;ESP6500_EA_AGE=719.0+/-406.2;ESP6500_EA_GTC=2483,1575,242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:coding-synonymous,NM_001267049.1:coding-synonymous,NM_001267048.1:coding-synonymous;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109194510;ESP6500_GTC=3006,2676,821;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.2037T>C,NM_001267049.1:c.987T>C,NM_001267048.1:c.1776T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(T679),NM_001267049.1:p.(T329),NM_001267048.1:p.(T592);ESP6500_MAF=23.9419,48.729,33.2001;ESP6500_TAC=8688,4318	GT:AD:DP:GQ:PL	0/1:62,40:102:99:873,0,1571
chr1	109194550	rs2359243	C	T	704.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.335;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-1.276;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2359243;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|15/22|c.2077C>T|p.Leu693Leu|2298/7032|2077/3042|693/1013||,T|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|13/20|c.1816C>T|p.Leu606Leu|2037/6771|1816/2781|606/926||,T|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|14/21|c.1771C>T|p.Leu591Leu|2177/6942|1771/2709|591/902||,T|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|8/15|c.1063C>T|p.Leu355Leu|2158/6892|1063/2028|355/675||;p3_1000G_AA=C|||;p3_1000G_AC=3576;p3_1000G_AF=0.714058;p3_1000G_AFR_AF=0.3048;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=17409;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109737172;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1624,2782;ESP6500_AA_AGE=500.3+/-364.7;ESP6500_AA_GTC=298,1028,877;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=106;ESP6500_EA_AC=6527,2073;ESP6500_EA_AGE=718.3+/-406.2;ESP6500_EA_GTC=2473,1581,246;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:coding-synonymous,NM_001267049.1:coding-synonymous,NM_001267048.1:coding-synonymous;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109194550;ESP6500_GTC=2771,2609,1123;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.2077C>T,NM_001267049.1:c.1027C>T,NM_001267048.1:c.1816C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(L693),NM_001267049.1:p.(L343),NM_001267048.1:p.(L606);ESP6500_MAF=24.1047,36.8588,37.3289;ESP6500_TAC=8151,4855	GT:AD:DP:GQ:PL	0/1:48,31:79:99:733,0,1382
chr1	109197688	rs113482805	A	AGAGAGAGTGTGT	642.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.96;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113482805;dbSNPBuildID=132;ANN=AGAGAGAGTGTGT|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|16/21|c.2302+35_2302+36insAGAGAGTGTGTG||||||INFO_REALIGN_3_PRIME,AGAGAGAGTGTGT|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|14/19|c.2041+35_2041+36insAGAGAGTGTGTG||||||INFO_REALIGN_3_PRIME,AGAGAGAGTGTGT|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|15/20|c.1996+35_1996+36insAGAGAGTGTGTG||||||INFO_REALIGN_3_PRIME,AGAGAGAGTGTGT|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|9/14|c.1288+35_1288+36insAGAGAGTGTGTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1460;p3_1000G_AF=0.291534;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=25650;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109740310;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:50:660,50,0
chr1	109197742	rs17014532	T	G	542.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.17;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17014532;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|16/21|c.2302+88T>G||||||,G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|14/19|c.2041+88T>G||||||,G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|15/20|c.1996+88T>G||||||,G|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|9/14|c.1288+88T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1789;p3_1000G_AF=0.357228;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=18119;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.2465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109740364;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:571,45,0
chr1	109197926	rs2296696	G	T	722.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296696;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|16/21|c.2303-53G>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|14/19|c.2042-53G>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|15/20|c.1997-53G>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|9/14|c.1289-53G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1723;p3_1000G_AF=0.34405;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=20809;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109740548;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=336,1048;ESP6500_AA_GTC=40,256,396;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=2.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=69;ESP6500_EA_AC=773,2409;ESP6500_EA_GTC=93,587,911;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:intron,NM_001267049.1:intron,NM_001267048.1:intron;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109197926;ESP6500_GTC=133,843,1307;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.2303-53G>T,NM_001267049.1:c.1253-53G>T,NM_001267048.1:c.2042-53G>T;ESP6500_MAF=24.2929,24.2775,24.2882;ESP6500_TAC=1109,3457	GT:AD:DP:GQ:PL	1/1:0,23:23:69:751,69,0
chr1	109199830	rs913178	C	T	2378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=0.955;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs913178;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|18/21|c.2502-24C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|16/19|c.2241-24C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|17/20|c.2196-24C>T||||||,T|intron_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|11/14|c.1488-24C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3795;p3_1000G_AF=0.757788;p3_1000G_AFR_AF=0.4675;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=21067;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.7893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109742452;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2284,2122;ESP6500_AA_AGE=594.1+/-388.1;ESP6500_AA_GTC=601,1082,520;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=3.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=45;ESP6500_EA_AC=6827,1773;ESP6500_EA_AGE=729.5+/-406.7;ESP6500_EA_GTC=2704,1419,177;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:intron,NM_001267049.1:intron,NM_001267048.1:intron;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109199830;ESP6500_GTC=3305,2501,697;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.2502-24C>T,NM_001267049.1:c.1452-24C>T,NM_001267048.1:c.2241-24C>T;ESP6500_MAF=20.6163,48.1616,29.9477;ESP6500_TAC=9111,3895	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2407,225,0
chr1	109199863	rs913179	G	A	2481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.23;SOR=1.079;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs913179;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|19/22|c.2511G>A|p.Ser837Ser|2732/7032|2511/3042|837/1013||,A|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|17/20|c.2250G>A|p.Ser750Ser|2471/6771|2250/2781|750/926||,A|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|18/21|c.2205G>A|p.Ser735Ser|2611/6942|2205/2709|735/902||,A|synonymous_variant|LOW|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|12/15|c.1497G>A|p.Ser499Ser|2592/6892|1497/2028|499/675||;p3_1000G_AA=G|||;p3_1000G_AC=3800;p3_1000G_AF=0.758786;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=20702;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.7893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109742485;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2292,2114;ESP6500_AA_AGE=598.6+/-389.1;ESP6500_AA_GTC=606,1080,517;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=-10.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=60;ESP6500_EA_AC=6825,1775;ESP6500_EA_AGE=734.2+/-406.9;ESP6500_EA_GTC=2703,1419,178;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020775.4:coding-synonymous,NM_001267049.1:coding-synonymous,NM_001267048.1:coding-synonymous;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109199863;ESP6500_GTC=3309,2499,695;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.2511G>A,NM_001267049.1:c.1461G>A,NM_001267048.1:c.2250G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(S837),NM_001267049.1:p.(S487),NM_001267048.1:p.(S750);ESP6500_MAF=20.6395,47.98,29.9016;ESP6500_TAC=9117,3889	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2510,231,0
chr1	109202996	rs1052878	T	C	1449.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052878;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_020775.4|protein_coding|22/22|c.3026T>C|p.Leu1009Pro|3247/7032|3026/3042|1009/1013||,C|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_001267048.1|protein_coding|20/20|c.2765T>C|p.Leu922Pro|2986/6771|2765/2781|922/926||,C|missense_variant|MODERATE|KIAA1324|KIAA1324|transcript|NM_001284353.1|protein_coding|15/15|c.2012T>C|p.Leu671Pro|3107/6892|2012/2028|671/675||,C|3_prime_UTR_variant|MODIFIER|KIAA1324|KIAA1324|transcript|NM_001284352.1|protein_coding|21/21|c.*42T>C|||||42|;p3_1000G_AA=C|||;p3_1000G_AC=4459;p3_1000G_AF=0.890375;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=16081;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.8996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109745618;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3328,1078;ESP6500_AA_AGE=391.4+/-328.1;ESP6500_AA_GTC=1254,820,129;ESP6500_CDS_SIZES=NM_020775.4:3042,NM_001267049.1:1992,NM_001267048.1:2781;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=7765,835;ESP6500_EA_AGE=190.1+/-236.7;ESP6500_EA_GTC=3510,745,45;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020775.4:missense,NM_001267049.1:missense,NM_001267048.1:missense;ESP6500_GL=KIAA1324;ESP6500_GRCh38_POSITION=1:109202996;ESP6500_GS=98,98,98;ESP6500_GTC=4764,1565,174;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020775.4:c.3026T>C,NM_001267049.1:c.1976T>C,NM_001267048.1:c.2765T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020775.4:p.(L1009P),NM_001267049.1:p.(L659P),NM_001267048.1:p.(L922P);ESP6500_MAF=9.7093,24.4666,14.7086;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=11093,1913	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1478,120,0
chr1	109228441	rs683182	T	C	1283.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs683182;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|SARS|SARS|transcript|NM_006513.3|protein_coding|3/10|c.288+9T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3405;p3_1000G_AF=0.679912;p3_1000G_AFR_AF=0.3911;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=17823;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.7883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109771063;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2154,2252;ESP6500_AA_AGE=581.8+/-385.5;ESP6500_AA_GTC=548,1058,597;ESP6500_CDS_SIZES=NM_006513.3:1545;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=132;ESP6500_EA_AC=6843,1757;ESP6500_EA_AGE=735.6+/-407.0;ESP6500_EA_GTC=2752,1339,209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006513.3:intron;ESP6500_GL=SARS;ESP6500_GRCh38_POSITION=1:109228441;ESP6500_GTC=3300,2397,806;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006513.3:c.288+9T>C;ESP6500_MAF=20.4302,48.8879,30.8242;ESP6500_TAC=8997,4009	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1312,132,0
chr1	109235955	rs658092	T	C	766.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs658092;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|SARS|SARS|transcript|NM_006513.3|protein_coding|7/10|c.970-22T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3452;p3_1000G_AF=0.689297;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=21802;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.7873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109778577;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2250,2156;ESP6500_AA_GTC=592,1066,545;ESP6500_CDS_SIZES=NM_006513.3:1545;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=76;ESP6500_EA_AC=6842,1758;ESP6500_EA_GTC=2752,1338,210;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006513.3:intron;ESP6500_GL=SARS;ESP6500_GRCh38_POSITION=1:109235955;ESP6500_GTC=3344,2404,755;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006513.3:c.970-22T>C;ESP6500_MAF=20.4419,48.9333,30.0938;ESP6500_TAC=9092,3914	GT:AD:DP:GQ:PL	1/1:0,23:23:69:795,69,0
chr1	109236934	rs631927	T	A	435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs631927;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|SARS|SARS|transcript|NM_006513.3|protein_coding|9/10|c.1258-310T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4951;p3_1000G_AF=0.988618;p3_1000G_AFR_AF=0.9576;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17027;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109779556;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:464,42,0
chr1	109236999	rs11439617;rs397821293	T	TC	149.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11439617;dbSNPBuildID=126,138;ANN=TC|intron_variant|MODIFIER|SARS|SARS|transcript|NM_006513.3|protein_coding|9/10|c.1258-244dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=3742;p3_1000G_AF=0.747204;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=19592;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.7913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109779621;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:187,15,0
chr1	109251630	rs454107	T	C	4939.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=150;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=0.992;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs454107;dbSNPBuildID=80;ANN=C|synonymous_variant|LOW|CELSR2|CELSR2|transcript|NM_001408.2|protein_coding|1/34|c.1551T>C|p.Ser517Ser|1612/10540|1551/8772|517/2923||;p3_1000G_AA=C|||;p3_1000G_AC=4517;p3_1000G_AF=0.901957;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=20642;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109794252;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3429,977;ESP6500_AA_GTC=1333,763,107;ESP6500_CDS_SIZES=NM_001408.2:8772;ESP6500_CG=-5.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=119;ESP6500_EA_AC=8279,321;ESP6500_EA_GTC=3984,311,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001408.2:coding-synonymous;ESP6500_GL=CELSR2;ESP6500_GRCh38_POSITION=1:109251630;ESP6500_GTC=5317,1074,112;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001408.2:c.1551T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001408.2:p.(S517);ESP6500_MAF=3.7326,22.1743,9.98;ESP6500_TAC=11708,1298	GT:AD:DP:GQ:PL	1/1:0,150:150:99:4968,451,0
chr1	109252404	rs413380	T	C	3878.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.44;SOR=0.96;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs413380;dbSNPBuildID=80;ANN=C|synonymous_variant|LOW|CELSR2|CELSR2|transcript|NM_001408.2|protein_coding|1/34|c.2325T>C|p.Tyr775Tyr|2386/10540|2325/8772|775/2923||;p3_1000G_AA=C|||;p3_1000G_AC=4517;p3_1000G_AF=0.901957;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=23503;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109795026;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3428,978;ESP6500_AA_GTC=1332,764,107;ESP6500_CDS_SIZES=NM_001408.2:8772;ESP6500_CG=-7.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=66;ESP6500_EA_AC=8279,321;ESP6500_EA_GTC=3984,311,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001408.2:coding-synonymous;ESP6500_GL=CELSR2;ESP6500_GRCh38_POSITION=1:109252404;ESP6500_GTC=5316,1075,112;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001408.2:c.2325T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001408.2:p.(Y775);ESP6500_MAF=3.7326,22.197,9.9877;ESP6500_TAC=11707,1299	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3907,348,0
chr1	109252986	rs437444	T	C	3250.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs437444;dbSNPBuildID=80;ANN=C|synonymous_variant|LOW|CELSR2|CELSR2|transcript|NM_001408.2|protein_coding|1/34|c.2907T>C|p.Phe969Phe|2968/10540|2907/8772|969/2923||;p3_1000G_AA=C|||;p3_1000G_AC=4579;p3_1000G_AF=0.914337;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=20733;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109795608;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3603,803;ESP6500_AA_GTC=1465,673,65;ESP6500_CDS_SIZES=NM_001408.2:8772;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=112;ESP6500_EA_AC=8278,322;ESP6500_EA_GTC=3983,312,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001408.2:coding-synonymous;ESP6500_GL=CELSR2;ESP6500_GRCh38_POSITION=1:109252986;ESP6500_GTC=5448,985,70;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001408.2:c.2907T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001408.2:p.(F969);ESP6500_MAF=3.7442,18.2251,8.6499;ESP6500_TAC=11881,1125	GT:AD:DP:GQ:PL	1/1:0,88:88:99:3279,264,0
chr1	109253431	rs2359414	C	T	762.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.67;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2359414;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CELSR2|CELSR2|transcript|NM_001408.2|protein_coding|1/33|c.3310+42C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1520;p3_1000G_AF=0.303514;p3_1000G_AFR_AF=0.2753;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=15988;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.2416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109796053;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1094,3274;ESP6500_AA_GTC=167,760,1257;ESP6500_CDS_SIZES=NM_001408.2:8772;ESP6500_CG=-8.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=8;ESP6500_EA_AC=1999,6541;ESP6500_EA_GTC=285,1429,2556;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001408.2:intron;ESP6500_GL=CELSR2;ESP6500_GRCh38_POSITION=1:109253431;ESP6500_GTC=452,2189,3813;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001408.2:c.3310+42C>T;ESP6500_MAF=23.4075,25.0458,23.9619;ESP6500_TAC=3093,9815	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:60:1|1:109253431_C_T:791,60,0
chr1	109253434	rs11102966	G	T	231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.077;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.5;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11102966;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CELSR2|CELSR2|transcript|NM_001408.2|protein_coding|1/33|c.3310+45G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=139;p3_1000G_AF=0.0277556;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=15976;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109796056;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4,4358;ESP6500_AA_GTC=0,4,2177;ESP6500_CDS_SIZES=NM_001408.2:8772;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=8;ESP6500_EA_AC=1,8529;ESP6500_EA_GTC=0,1,4264;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001408.2:intron;ESP6500_GL=CELSR2;ESP6500_GRCh38_POSITION=1:109253434;ESP6500_GTC=0,5,6441;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001408.2:c.3310+45G>T;ESP6500_MAF=0.0117,0.0917,0.0388;ESP6500_TAC=5,12887	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,9:20:99:0|1:109253431_C_T:260,0,381
chr1	109267922	rs2281894	C	A	1764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2281894;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|CELSR2|CELSR2|transcript|NM_001408.2|protein_coding|17/34|c.6180C>A|p.Arg2060Arg|6241/10540|6180/8772|2060/2923||;p3_1000G_AA=C|||;p3_1000G_AC=1131;p3_1000G_AF=0.225839;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=18633;p3_1000G_EAS_AF=0.4206;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109810544;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=313,4093;ESP6500_AA_AGE=152.9+/-186.6;ESP6500_AA_GTC=17,279,1907;ESP6500_CDS_SIZES=NM_001408.2:8772;ESP6500_CG=0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=1603,6997;ESP6500_EA_AGE=272.4+/-290.1;ESP6500_EA_GTC=169,1265,2866;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001408.2:coding-synonymous;ESP6500_GL=CELSR2;ESP6500_GRCh38_POSITION=1:109267922;ESP6500_GTC=186,1544,4773;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001408.2:c.6180C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001408.2:p.(R2060);ESP6500_MAF=18.6395,7.1039,14.7317;ESP6500_TAC=1916,11090	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1793,162,0
chr1	109272965	rs377543974	A	G	678.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.067;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.651;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.21;ReadPosRankSum=-1.655;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs377543974;dbSNPBuildID=138;ANN=G|missense_variant|MODERATE|CELSR2|CELSR2|transcript|NM_001408.2|protein_coding|31/34|c.8276A>G|p.Gln2759Arg|8337/10540|8276/8772|2759/2923||;p3_1000G_AA=A|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17912;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109815587;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,24:32:99:707,0,180
chr1	109273554	rs441853	A	C	773.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs441853;dbSNPBuildID=80;ANN=C|synonymous_variant|LOW|CELSR2|CELSR2|transcript|NM_001408.2|protein_coding|33/34|c.8628A>C|p.Gly2876Gly|8689/10540|8628/8772|2876/2923||;p3_1000G_AA=C|||;p3_1000G_AC=4857;p3_1000G_AF=0.969848;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=11341;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109816176;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3839,305;ESP6500_AA_GTC=1773,293,6;ESP6500_CDS_SIZES=NM_001408.2:8772;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=11;ESP6500_EA_AC=8331,5;ESP6500_EA_GTC=4163,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001408.2:coding-synonymous;ESP6500_GL=CELSR2;ESP6500_GRCh38_POSITION=1:109273554;ESP6500_GTC=5936,298,6;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001408.2:c.8628A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001408.2:p.(G2876);ESP6500_MAF=0.06,7.36,2.484;ESP6500_TAC=12170,310	GT:AD:DP:GQ:PL	1/1:0,24:24:72:802,72,0
chr1	109294213	rs3738777	A	G	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=-0.915;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738777;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001010985.2|protein_coding|8/9|c.*26T>C|||||26|,G|3_prime_UTR_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001265613.1|protein_coding|8/9|c.*26T>C|||||26|;p3_1000G_AA=A|||;p3_1000G_AC=1623;p3_1000G_AF=0.324081;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=20835;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.3211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109836835;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=527,3879;ESP6500_AA_AGE=239.3+/-250.5;ESP6500_AA_GTC=39,449,1715;ESP6500_CDS_SIZES=NM_001265613.1:996,NM_001010985.2:1065;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=181;ESP6500_EA_AC=2608,5992;ESP6500_EA_AGE=423.4+/-354.3;ESP6500_EA_GTC=386,1836,2078;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001265613.1:utr-3,NM_001010985.2:utr-3;ESP6500_GL=MYBPHL;ESP6500_GRCh38_POSITION=1:109294213;ESP6500_GTC=425,2285,3793;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001265613.1:c.*26T>C,NM_001010985.2:c.*26T>C;ESP6500_MAF=30.3256,11.961,24.1043;ESP6500_TAC=3135,9871	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,16:53:99:0|1:109294213_A_G:354,0,1459
chr1	109294220	rs646335	C	G	843.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.678;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=0.702;SOR=0.538;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs646335;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001010985.2|protein_coding|8/9|c.*19G>C|||||19|,G|3_prime_UTR_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001265613.1|protein_coding|8/9|c.*19G>C|||||19|;p3_1000G_AA=C|||;p3_1000G_AC=2618;p3_1000G_AF=0.522764;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=20883;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.6074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109836842;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2085,2321;ESP6500_AA_AGE=570.8+/-382.9;ESP6500_AA_GTC=524,1037,642;ESP6500_CDS_SIZES=NM_001265613.1:996,NM_001010985.2:1065;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=178;ESP6500_EA_AC=5371,3229;ESP6500_EA_AGE=650.3+/-400.7;ESP6500_EA_GTC=1686,1999,615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001265613.1:utr-3,NM_001010985.2:utr-3;ESP6500_GL=MYBPHL;ESP6500_GRCh38_POSITION=1:109294220;ESP6500_GTC=2210,3036,1257;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001265613.1:c.*19G>C,NM_001010985.2:c.*19G>C;ESP6500_MAF=37.5465,47.3218,42.6726;ESP6500_TAC=7456,5550	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,35:51:99:1|0:109294213_A_G:872,0,555
chr1	109296211	rs616899	T	C	483.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs616899;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001010985.2|protein_coding|6/8|c.867+23A>G||||||,C|intron_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001265613.1|protein_coding|6/8|c.798+23A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4836;p3_1000G_AF=0.965655;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=16802;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109838833;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3962,444;ESP6500_AA_AGE=213.1+/-232.8;ESP6500_AA_GTC=1778,406,19;ESP6500_CDS_SIZES=NM_001265613.1:996,NM_001010985.2:1065;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=55;ESP6500_EA_AC=8591,9;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=4291,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001265613.1:intron,NM_001010985.2:intron;ESP6500_GL=MYBPHL;ESP6500_GRCh38_POSITION=1:109296211;ESP6500_GTC=6069,415,19;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001265613.1:c.798+23A>G,NM_001010985.2:c.867+23A>G;ESP6500_MAF=0.1047,10.0772,3.483;ESP6500_TAC=12553,453	GT:AD:DP:GQ:PL	1/1:0,13:13:39:512,39,0
chr1	109296296	rs629001	C	T	988.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.25;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs629001;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|MYBPHL|MYBPHL|transcript|NM_001010985.2|protein_coding|6/9|c.805G>A|p.Asp269Asn|855/1372|805/1065|269/354||,T|missense_variant|MODERATE|MYBPHL|MYBPHL|transcript|NM_001265613.1|protein_coding|6/9|c.736G>A|p.Asp246Asn|786/1303|736/996|246/331||;p3_1000G_AA=C|||;p3_1000G_AC=4380;p3_1000G_AF=0.874601;p3_1000G_AFR_AF=0.6558;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=15976;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109838918;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3148,1258;ESP6500_AA_AGE=702.4+/-406.9;ESP6500_AA_GTC=1123,902,178;ESP6500_CDS_SIZES=NM_001265613.1:996,NM_001010985.2:1065;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=104;ESP6500_EA_AC=8037,563;ESP6500_EA_AGE=794.0+/-407.5;ESP6500_EA_GTC=3758,521,21;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001265613.1:missense,NM_001010985.2:missense;ESP6500_GL=MYBPHL;ESP6500_GRCh38_POSITION=1:109296296;ESP6500_GS=23,23;ESP6500_GTC=4881,1423,199;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001265613.1:c.736G>A,NM_001010985.2:c.805G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001265613.1:p.(D246N),NM_001010985.2:p.(D269N);ESP6500_MAF=6.5465,28.552,14.0012;ESP6500_PH=benign:0.01,benign:0.01;ESP6500_TAC=11185,1821	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1017,105,0
chr1	109296770	rs604349	A	G	2490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs604349;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001010985.2|protein_coding|5/8|c.730+13T>C||||||,G|intron_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001265613.1|protein_coding|5/8|c.661+13T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3771;p3_1000G_AF=0.752995;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=19448;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109839392;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1601,2805;ESP6500_AA_AGE=496.7+/-363.6;ESP6500_AA_GTC=290,1021,892;ESP6500_CDS_SIZES=NM_001265613.1:996,NM_001010985.2:1065;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=100;ESP6500_EA_AC=7784,816;ESP6500_EA_AGE=782.3+/-407.6;ESP6500_EA_GTC=3514,756,30;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001265613.1:intron,NM_001010985.2:intron;ESP6500_GL=MYBPHL;ESP6500_GRCh38_POSITION=1:109296770;ESP6500_GTC=3804,1777,922;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001265613.1:c.661+13T>C,NM_001010985.2:c.730+13T>C;ESP6500_MAF=9.4884,36.3368,27.841;ESP6500_TAC=9385,3621	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2519,225,0
chr1	109296811	rs1278285	A	G	3149.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=0.972;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1278285;dbSNPBuildID=87;ANN=G|synonymous_variant|LOW|MYBPHL|MYBPHL|transcript|NM_001010985.2|protein_coding|5/9|c.702T>C|p.Thr234Thr|752/1372|702/1065|234/354||,G|synonymous_variant|LOW|MYBPHL|MYBPHL|transcript|NM_001265613.1|protein_coding|5/9|c.633T>C|p.Thr211Thr|683/1303|633/996|211/331||;p3_1000G_AA=G|||;p3_1000G_AC=4634;p3_1000G_AF=0.925319;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=20577;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109839433;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3432,974;ESP6500_AA_AGE=366.6+/-317.9;ESP6500_AA_GTC=1337,758,108;ESP6500_CDS_SIZES=NM_001265613.1:996,NM_001010985.2:1065;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=125;ESP6500_EA_AC=8588,12;ESP6500_EA_AGE=9.1+/-34.3;ESP6500_EA_GTC=4288,12,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001265613.1:coding-synonymous,NM_001010985.2:coding-synonymous;ESP6500_GL=MYBPHL;ESP6500_GRCh38_POSITION=1:109296811;ESP6500_GTC=5625,770,108;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001265613.1:c.633T>C,NM_001010985.2:c.702T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001265613.1:p.(T211),NM_001010985.2:p.(T234);ESP6500_MAF=0.1395,22.1062,7.5811;ESP6500_TAC=12020,986	GT:AD:DP:GQ:PL	1/1:0,87:87:99:3178,261,0
chr1	109297274	rs7515901	C	T	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.838;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0.222;SOR=0.449;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7515901;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001010985.2|protein_coding|3/8|c.431-85G>A||||||,T|intron_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001265613.1|protein_coding|3/8|c.362-85G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1177;p3_1000G_AF=0.235024;p3_1000G_AFR_AF=0.4705;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=19939;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109839896;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,11:34:99:319,0,751
chr1	109297332	rs603624	G	C	835.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=0.223;SOR=0.993;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs603624;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001010985.2|protein_coding|3/8|c.430+90C>G||||||,C|intron_variant|MODIFIER|MYBPHL|MYBPHL|transcript|NM_001265613.1|protein_coding|3/8|c.362-143C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3667;p3_1000G_AF=0.732228;p3_1000G_AFR_AF=0.6241;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=19189;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.826;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109839954;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,29:50:99:864,0,484
chr1	109314220	rs372331171;rs56356949	TG	T	227.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.5;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=8.129;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.392;SOR=3.442;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs372331171,rs56356949;dbSNPBuildID=138,129;ANN=T|intron_variant|MODIFIER|SORT1|SORT1|transcript|NM_002959.6|protein_coding|19/19|c.2481+40delC||||||,T|intron_variant|MODIFIER|SORT1|SORT1|transcript|NM_001205228.1|protein_coding|19/19|c.2070+40delC||||||	GT:AD:DP:GQ:PL	0/1:4,11:15:65:265,0,65
chr1	109325270	rs12045346	A	G	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12045346;dbSNPBuildID=120;ANN=G|sequence_feature|LOW|SORT1|SORT1|repeat:BNR_9|NM_002959.6|protein_coding|13/19|c.1644-181T>C||||||,G|sequence_feature|LOW|SORT1|SORT1|repeat:BNR_9|NM_001205228.1|protein_coding|13/19|c.1233-181T>C||||||,G|intron_variant|MODIFIER|SORT1|SORT1|transcript|NM_002959.6|protein_coding|13/19|c.1644-181T>C||||||,G|intron_variant|MODIFIER|SORT1|SORT1|transcript|NM_001205228.1|protein_coding|13/19|c.1233-181T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3734;p3_1000G_AF=0.745607;p3_1000G_AFR_AF=0.5779;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=11741;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109867892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr1	109325307	rs11102969	G	A	48.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11102969;dbSNPBuildID=120;ANN=A|sequence_feature|LOW|SORT1|SORT1|repeat:BNR_9|NM_002959.6|protein_coding|13/19|c.1644-218C>T||||||,A|sequence_feature|LOW|SORT1|SORT1|repeat:BNR_9|NM_001205228.1|protein_coding|13/19|c.1233-218C>T||||||,A|intron_variant|MODIFIER|SORT1|SORT1|transcript|NM_002959.6|protein_coding|13/19|c.1644-218C>T||||||,A|intron_variant|MODIFIER|SORT1|SORT1|transcript|NM_001205228.1|protein_coding|13/19|c.1233-218C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3430;p3_1000G_AF=0.684904;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=13643;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109867929;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:76,6,0
chr1	109340954	rs3217347	C	CAT	1292.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.69;SOR=5.421;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3217347;dbSNPBuildID=106;ANN=CAT|intron_variant|MODIFIER|SORT1|SORT1|transcript|NM_002959.6|protein_coding|9/19|c.1109-76_1109-75insAT||||||,CAT|intron_variant|MODIFIER|SORT1|SORT1|transcript|NM_001205228.1|protein_coding|9/19|c.698-76_698-75insAT||||||;p3_1000G_AC=3709;p3_1000G_AF=0.740615;p3_1000G_AFR_AF=0.5605;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=21036;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109883576;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1330,90,0
chr1	109342153	rs2228604	T	G	1565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228604;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|SORT1|SORT1|transcript|NM_002959.6|protein_coding|9/20|c.969A>C|p.Thr323Thr|1022/7026|969/2496|323/831||,G|synonymous_variant|LOW|SORT1|SORT1|transcript|NM_001205228.1|protein_coding|9/20|c.558A>C|p.Thr186Thr|991/6995|558/2085|186/694||;p3_1000G_AA=T|||;p3_1000G_AC=3433;p3_1000G_AF=0.685503;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=21426;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109884775;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1850,2556;ESP6500_AA_AGE=535.6+/-374.3;ESP6500_AA_GTC=393,1064,746;ESP6500_CDS_SIZES=NM_002959.5:2496,NM_001205228.1:2085;ESP6500_CG=-1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=87;ESP6500_EA_AC=6253,2347;ESP6500_EA_AGE=702.8+/-405.3;ESP6500_EA_GTC=2277,1699,324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002959.5:coding-synonymous,NM_001205228.1:coding-synonymous;ESP6500_GL=SORT1;ESP6500_GRCh38_POSITION=1:109342153;ESP6500_GTC=2670,2763,1070;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_002959.5:c.969A>C,NM_001205228.1:c.558A>C;ESP6500_HGVS_PROTEIN_VAR=NM_002959.5:p.(T323),NM_001205228.1:p.(T186);ESP6500_MAF=27.2907,41.9882,37.698;ESP6500_TAC=8103,4903	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1594,135,0
chr1	109354481	rs11142	A	G	801.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11142;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|SORT1|SORT1|transcript|NM_002959.6|protein_coding|5/20|c.594T>C|p.Phe198Phe|647/7026|594/2496|198/831||,G|synonymous_variant|LOW|SORT1|SORT1|transcript|NM_001205228.1|protein_coding|5/20|c.186T>C|p.Phe62Phe|619/6995|186/2085|62/694||,G|sequence_feature|LOW|SORT1|SORT1|repeat:BNR_2|NM_002959.6|protein_coding|5/20|c.594T>C||||||,G|sequence_feature|LOW|SORT1|SORT1|repeat:BNR_2|NM_001205228.1|protein_coding|5/20|c.186T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3888;p3_1000G_AF=0.776358;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=19794;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109897103;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2945,1461;ESP6500_AA_AGE=471.1+/-356.0;ESP6500_AA_GTC=989,967,247;ESP6500_CDS_SIZES=NM_002959.5:2496,NM_001205228.1:2085;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=146;ESP6500_EA_AC=6259,2341;ESP6500_EA_AGE=392.2+/-343.9;ESP6500_EA_GTC=2280,1699,321;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002959.5:coding-synonymous,NM_001205228.1:coding-synonymous;ESP6500_GL=SORT1;ESP6500_GRCh38_POSITION=1:109354481;ESP6500_GTC=3269,2666,568;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002959.5:c.594T>C,NM_001205228.1:c.186T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002959.5:p.(F198),NM_001205228.1:p.(F62);ESP6500_MAF=27.2209,33.1593,29.2327;ESP6500_TAC=9204,3802	GT:AD:DP:GQ:PL	1/1:0,25:25:75:830,75,0
chr1	109411733	rs11102979	C	G	120.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.18;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11102979;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PSMA5|PSMA5|transcript|NM_002790.3|protein_coding|6/8|c.458+144G>C||||||,G|intron_variant|MODIFIER|PSMA5|PSMA5|transcript|NM_001199772.1|protein_coding|5/7|c.284+144G>C||||||,G|intron_variant|MODIFIER|PSMA5|PSMA5|transcript|NM_001199773.1|protein_coding|6/8|c.284+144G>C||||||,G|intron_variant|MODIFIER|PSMA5|PSMA5|transcript|NM_001199774.1|protein_coding|6/8|c.284+144G>C||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:149,15,0
chr1	109415413	rs1465607	T	C	547.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.12;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1465607;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|PSMA5|PSMA5|transcript|NM_002790.3|protein_coding|2/8|c.97-50A>G||||||,C|intron_variant|MODIFIER|PSMA5|PSMA5|transcript|NM_001199772.1|protein_coding|1/7|c.-78-50A>G||||||,C|intron_variant|MODIFIER|PSMA5|PSMA5|transcript|NM_001199773.1|protein_coding|2/8|c.-78-50A>G||||||,C|intron_variant|MODIFIER|PSMA5|PSMA5|transcript|NM_001199774.1|protein_coding|2/8|c.-78-50A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=3736;p3_1000G_AF=0.746006;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=17495;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109958035;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2556,1850;ESP6500_AA_AGE=533.9+/-373.8;ESP6500_AA_GTC=742,1072,389;ESP6500_CDS_SIZES=NM_002790.3:726,NM_001199774.1:552,NM_001199773.1:552,NM_001199772.1:552;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=61;ESP6500_EA_AC=6252,2348;ESP6500_EA_AGE=390.5+/-343.3;ESP6500_EA_GTC=2274,1704,322;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002790.3:intron,NM_001199774.1:intron,NM_001199773.1:intron,NM_001199772.1:intron;ESP6500_GL=PSMA5;ESP6500_GRCh38_POSITION=1:109415413;ESP6500_GTC=3016,2776,711;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002790.3:c.97-50A>G,NM_001199774.1:c.-128A>G,NM_001199773.1:c.-128A>G,NM_001199772.1:c.-128A>G;ESP6500_MAF=27.3023,41.9882,32.2774;ESP6500_TAC=8808,4198	GT:AD:DP:GQ:PL	1/1:0,15:15:45:576,45,0
chr1	109466812	rs2787015	A	C	497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.28;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2787015;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|SYPL2|SYPL2|transcript|NM_001040709.1|protein_coding|1/6|c.-32A>C|||||32|;p3_1000G_AA=C|||;p3_1000G_AC=3744;p3_1000G_AF=0.747604;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=8406;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.6899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110009434;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:526,51,0
chr1	109467032	rs138525393	AC	A	857.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs138525393;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|SYPL2|SYPL2|transcript|NM_001040709.1|protein_coding|1/5|c.55-21delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCCCCT|CCCCCC|CCCCC|complex_deletion;p3_1000G_AC=3441;p3_1000G_AF=0.687101;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=7475;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.6889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110009654;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=INDEL;ESP6500_AA_AC=1313,1571;ESP6500_AA_GTC=475,363,604;ESP6500_CDS_SIZES=NM_001040709.1:819;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=4;ESP6500_EA_AC=4587,1831;ESP6500_EA_GTC=1918,751,540;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001040709.1:intron;ESP6500_GL=SYPL2;ESP6500_GRCh38_POSITION=1:109467032;ESP6500_GTC=2393,1114,1144;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001040709.1:c.55-26del1;ESP6500_MAF=28.5291,45.527,36.5728;ESP6500_TAC=5900,3402	GT:AD:DP:GQ:PL	1/1:0,28:28:84:895,84,0
chr1	109475526	rs530565	C	T	965.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs530565;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|SYPL2|SYPL2|transcript|NM_001040709.1|protein_coding|2/5|c.130-55C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4977;p3_1000G_AF=0.99381;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=21460;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110018148;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:994,84,0
chr1	109606352	rs1799875;259744	C	T	1854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=0.966;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1799875;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|GNAT2|GNAT2|transcript|NM_005272.3|protein_coding|5/8|c.546G>A|p.Thr182Thr|759/1365|546/1065|182/354||;p3_1000G_AA=C|||;p3_1000G_AC=1896;p3_1000G_AF=0.378594;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=21137;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.4602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110148974;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=495,3911;ESP6500_AA_AGE=229.1+/-243.8;ESP6500_AA_GTC=26,443,1734;ESP6500_CDS_SIZES=NM_005272.3:1065;ESP6500_CG=-1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=143;ESP6500_EA_AC=3805,4795;ESP6500_EA_AGE=538.7+/-383.5;ESP6500_EA_GTC=837,2131,1332;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005272.3:coding-synonymous;ESP6500_GL=GNAT2;ESP6500_GRCh38_POSITION=1:109606352;ESP6500_GTC=863,2574,3066;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005272.3:c.546G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005272.3:p.(T182);ESP6500_MAF=44.2442,11.2347,33.0617;ESP6500_TAC=4300,8706;CLINVAR_AF_ESP=0.3306;CLINVAR_AF_EXAC=0.44904;CLINVAR_AF_TGP=0.3786;CLINVAR_ALLELEID=249359;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0011516,MedGen:C0152200,Orphanet:ORPHA49382,SNOMED_CT:56852002|MedGen:CN169374;CLINVAR_CLNDN=Achromatopsia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.109606352C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2021;CLINVAR_GENEINFO=GNAT2:2780;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1799875	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1883,192,0
chr1	109626266	rs493972	C	G	1649.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.94;SOR=0.96;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs493972;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257360.1|protein_coding|5/18|c.584+38C>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_139156.3|protein_coding|4/17|c.341+38C>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_004037.7|protein_coding|4/17|c.584+38C>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001308170.1|protein_coding|3/16|c.359+38C>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257361.1|protein_coding|4/17|c.230+38C>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_203404.1|protein_coding|2/15|c.227+38C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4029;p3_1000G_AF=0.804513;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=16591;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110168888;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3310,1096;ESP6500_AA_AGE=394.2+/-329.2;ESP6500_AA_GTC=1241,828,134;ESP6500_CDS_SIZES=NM_203404.1:2283,NM_139156.3:2397,NM_004037.7:2640,NM_001257361.1:2286,NM_001257360.1:2640;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=42;ESP6500_EA_AC=5454,3146;ESP6500_EA_AGE=476.5+/-369.4;ESP6500_EA_GTC=1720,2014,566;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203404.1:intron,NM_139156.3:intron,NM_004037.7:intron,NM_001257361.1:intron,NM_001257360.1:intron;ESP6500_GL=AMPD2;ESP6500_GRCh38_POSITION=1:109626266;ESP6500_GTC=2961,2842,700;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_203404.1:c.227+38C>G,NM_139156.3:c.341+38C>G,NM_004037.7:c.584+38C>G,NM_001257361.1:c.230+38C>G,NM_001257360.1:c.584+38C>G;ESP6500_MAF=36.5814,24.8752,32.6157;ESP6500_TAC=8764,4242	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1678,171,0
chr1	109627335	rs524998	A	G	2241.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs524998;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257360.1|protein_coding|8/18|c.1022+19A>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_139156.3|protein_coding|7/17|c.779+19A>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_004037.7|protein_coding|7/17|c.1022+19A>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001308170.1|protein_coding|6/16|c.797+19A>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257361.1|protein_coding|7/17|c.668+19A>G||||||,G|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_203404.1|protein_coding|5/15|c.665+19A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4259;p3_1000G_AF=0.850439;p3_1000G_AFR_AF=0.8865;p3_1000G_AMR_AF=0.7867;p3_1000G_AN=5008;p3_1000G_DP=17529;p3_1000G_EAS_AF=0.9812;p3_1000G_EUR_AF=0.6769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110169957;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3808,598;ESP6500_AA_AGE=262.2+/-264.8;ESP6500_AA_GTC=1651,506,46;ESP6500_CDS_SIZES=NM_203404.1:2283,NM_139156.3:2397,NM_004037.7:2640,NM_001257361.1:2286,NM_001257360.1:2640;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=109;ESP6500_EA_AC=5573,3027;ESP6500_EA_AGE=466.3+/-366.7;ESP6500_EA_GTC=1800,1973,527;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203404.1:intron,NM_139156.3:intron,NM_004037.7:intron,NM_001257361.1:intron,NM_001257360.1:intron;ESP6500_GL=AMPD2;ESP6500_GRCh38_POSITION=1:109627335;ESP6500_GTC=3451,2479,573;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_203404.1:c.665+19A>G,NM_139156.3:c.779+19A>G,NM_004037.7:c.1022+19A>G,NM_001257361.1:c.668+19A>G,NM_001257360.1:c.1022+19A>G;ESP6500_MAF=35.1977,13.5724,27.8718;ESP6500_TAC=9381,3625	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2270,210,0
chr1	109628274	rs863978	T	C	2183.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=1.197;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs863978;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|AMPD2|AMPD2|transcript|NM_001257360.1|protein_coding|11/19|c.1434T>C|p.His478His|2000/4109|1434/2640|478/879||,C|synonymous_variant|LOW|AMPD2|AMPD2|transcript|NM_139156.3|protein_coding|10/18|c.1191T>C|p.His397His|1647/3756|1191/2397|397/798||,C|synonymous_variant|LOW|AMPD2|AMPD2|transcript|NM_004037.7|protein_coding|10/18|c.1434T>C|p.His478His|1867/3976|1434/2640|478/879||,C|synonymous_variant|LOW|AMPD2|AMPD2|transcript|NM_001308170.1|protein_coding|9/17|c.1209T>C|p.His403His|1403/3512|1209/2415|403/804||,C|synonymous_variant|LOW|AMPD2|AMPD2|transcript|NM_001257361.1|protein_coding|10/18|c.1080T>C|p.His360His|1283/3392|1080/2286|360/761||,C|synonymous_variant|LOW|AMPD2|AMPD2|transcript|NM_203404.1|protein_coding|8/16|c.1077T>C|p.His359His|1285/3394|1077/2283|359/760||;p3_1000G_AA=T|||;p3_1000G_AC=4045;p3_1000G_AF=0.807708;p3_1000G_AFR_AF=0.7337;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=19104;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.6769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110170896;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3331,1075;ESP6500_AA_AGE=722.3+/-409.3;ESP6500_AA_GTC=1256,819,128;ESP6500_CDS_SIZES=NM_203404.1:2283,NM_139156.3:2397,NM_004037.7:2640,NM_001257361.1:2286,NM_001257360.1:2640;ESP6500_CG=-1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=73;ESP6500_EA_AC=5568,3032;ESP6500_EA_AGE=663.0+/-402.0;ESP6500_EA_GTC=1798,1972,530;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203404.1:coding-synonymous,NM_139156.3:coding-synonymous,NM_004037.7:coding-synonymous,NM_001257361.1:coding-synonymous,NM_001257360.1:coding-synonymous;ESP6500_GL=AMPD2;ESP6500_GRCh38_POSITION=1:109628274;ESP6500_GTC=3054,2791,658;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_203404.1:c.1077T>C,NM_139156.3:c.1191T>C,NM_004037.7:c.1434T>C,NM_001257361.1:c.1080T>C,NM_001257360.1:c.1434T>C;ESP6500_HGVS_PROTEIN_VAR=NM_203404.1:p.(H359),NM_139156.3:p.(H397),NM_004037.7:p.(H478),NM_001257361.1:p.(H360),NM_001257360.1:p.(H478);ESP6500_MAF=35.2558,24.3985,31.5777;ESP6500_TAC=8899,4107	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2212,183,0
chr1	109629083	rs523786	A	C	1396.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs523786;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257360.1|protein_coding|13/18|c.1734-26A>C||||||,C|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_139156.3|protein_coding|12/17|c.1491-26A>C||||||,C|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_004037.7|protein_coding|12/17|c.1734-26A>C||||||,C|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001308170.1|protein_coding|11/16|c.1509-26A>C||||||,C|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257361.1|protein_coding|12/17|c.1380-26A>C||||||,C|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_203404.1|protein_coding|10/15|c.1377-26A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4158;p3_1000G_AF=0.830272;p3_1000G_AFR_AF=0.8132;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=22197;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110171705;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3584,822;ESP6500_AA_AGE=736.9+/-410.8;ESP6500_AA_GTC=1461,662,80;ESP6500_CDS_SIZES=NM_203404.1:2283,NM_139156.3:2397,NM_004037.7:2640,NM_001257361.1:2286,NM_001257360.1:2640;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=28;ESP6500_EA_AC=5569,3031;ESP6500_EA_AGE=651.2+/-400.8;ESP6500_EA_GTC=1798,1973,529;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203404.1:intron,NM_139156.3:intron,NM_004037.7:intron,NM_001257361.1:intron,NM_001257360.1:intron;ESP6500_GL=AMPD2;ESP6500_GRCh38_POSITION=1:109629083;ESP6500_GTC=3259,2635,609;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_203404.1:c.1377-26A>C,NM_139156.3:c.1491-26A>C,NM_004037.7:c.1734-26A>C,NM_001257361.1:c.1380-26A>C,NM_001257360.1:c.1734-26A>C;ESP6500_MAF=35.2442,18.6564,29.6248;ESP6500_TAC=9153,3853	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1425,123,0
chr1	109629724	rs397952933;rs5776989	T	TG	439.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.32;SOR=2.448;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5776989;dbSNPBuildID=131,138;ANN=TG|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257360.1|protein_coding|15/18|c.2025-67dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_139156.3|protein_coding|14/17|c.1782-67dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_004037.7|protein_coding|14/17|c.2025-67dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001308170.1|protein_coding|13/16|c.1800-67dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257361.1|protein_coding|14/17|c.1671-67dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_203404.1|protein_coding|12/15|c.1668-67dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGGG|GGGGG|GGGGGG|deletion;p3_1000G_AC=4257;p3_1000G_AF=0.85004;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.7867;p3_1000G_AN=5008;p3_1000G_DP=18943;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110172346;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:477,45,0
chr1	109629740	rs2269341	C	T	590.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2269341;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257360.1|protein_coding|15/18|c.2025-56C>T||||||,T|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_139156.3|protein_coding|14/17|c.1782-56C>T||||||,T|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_004037.7|protein_coding|14/17|c.2025-56C>T||||||,T|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001308170.1|protein_coding|13/16|c.1800-56C>T||||||,T|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_001257361.1|protein_coding|14/17|c.1671-56C>T||||||,T|intron_variant|MODIFIER|AMPD2|AMPD2|transcript|NM_203404.1|protein_coding|12/15|c.1668-56C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1820;p3_1000G_AF=0.363419;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=18429;p3_1000G_EAS_AF=0.5119;p3_1000G_EUR_AF=0.4145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110172362;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:619,48,0
chr1	109656550	rs57680849;rs71577010;rs777220013	C	CTGTG	80.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.489;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.541;SOR=1.863;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57680849;dbSNPBuildID=130,144,129;ANN=CTGTG|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_000850.4|protein_coding|1/7|c.37-125_37-122dupTGTG||||||INFO_REALIGN_3_PRIME,CTGTG|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NR_024538.1|pseudogene|1/6|n.351-125_351-122dupTGTG||||||INFO_REALIGN_3_PRIME,CTGTG|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding|1/7|c.37-125_37-122dupTGTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:6,3:9:99:118,0,218
chr1	109656603	rs140231844	TG	T	544.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.24;SOR=6.184;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs140231844;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_000850.4|protein_coding|1/7|c.37-99delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NR_024538.1|pseudogene|1/6|n.351-99delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding|1/7|c.37-99delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3172;p3_1000G_AF=0.633387;p3_1000G_AFR_AF=0.5628;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=8389;p3_1000G_EAS_AF=0.7966;p3_1000G_EUR_AF=0.5875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110199225;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,20:20:60:573,60,0
chr1	109658958	rs650985	C	T	7525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=237;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=1.099;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs650985;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_000850.4|protein_coding|6/7|c.457-42C>T||||||,T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NR_024538.1|pseudogene|5/6|n.689-42C>T||||||,T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding|6/7|c.457-42C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4906;p3_1000G_AF=0.979633;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=22240;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110201580;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4350,56;ESP6500_AA_AGE=55.5+/-91.7;ESP6500_AA_GTC=2147,56,0;ESP6500_CDS_SIZES=NM_147148.2:588,NM_000850.4:657;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=364;ESP6500_EA_AC=8097,503;ESP6500_EA_AGE=144.8+/-200.6;ESP6500_EA_GTC=3809,479,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147148.2:intron,NM_000850.4:intron;ESP6500_GL=GSTM4;ESP6500_GRCh38_POSITION=1:109658958;ESP6500_GTC=5956,535,12;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_147148.2:c.457-42C>T,NM_000850.4:c.457-42C>T;ESP6500_MAF=5.8488,1.271,4.298;ESP6500_TAC=12447,559	GT:AD:DP:GQ:PL	1/1:0,237:237:99:7554,711,0
chr1	109659077	rs506008	T	C	9688.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=281;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.04;QD=34.48;SOR=0.759;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs506008;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|GSTM4|GSTM4|transcript|NM_000850.4|protein_coding|7/8|c.534T>C|p.Phe178Phe|848/1426|534/657|178/218||,C|synonymous_variant|LOW|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding|7/8|c.534T>C|p.Phe178Phe|848/1372|534/588|178/195||,C|non_coding_transcript_exon_variant|MODIFIER|GSTM4|GSTM4|transcript|NR_024538.1|pseudogene|6/7|n.766T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4033;p3_1000G_AF=0.805312;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=20255;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.8598;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110201699;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2704,1702;ESP6500_AA_AGE=651.3+/-399.2;ESP6500_AA_GTC=851,1002,350;ESP6500_CDS_SIZES=NM_147148.2:588,NM_000850.4:657;ESP6500_CG=-0.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=381;ESP6500_EA_AC=7507,1087;ESP6500_EA_AGE=768.2+/-407.6;ESP6500_EA_GTC=3264,979,54;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147148.2:coding-synonymous,NM_000850.4:coding-synonymous;ESP6500_GL=GSTM4;ESP6500_GRCh38_POSITION=1:109659077;ESP6500_GTC=4115,1981,404;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_147148.2:c.534T>C,NM_000850.4:c.534T>C;ESP6500_HGVS_PROTEIN_VAR=NM_147148.2:p.(F178),NM_000850.4:p.(F178);ESP6500_MAF=12.6484,38.6291,21.4538;ESP6500_TAC=10211,2789	GT:AD:DP:GQ:PL	1/1:0,281:281:99:9717,842,0
chr1	109659187	rs562996	G	T	12471.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=280;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.81;QD=29.13;SOR=1.315;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs562996;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_000850.4|protein_coding|7/7|c.567+77G>T||||||,T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NR_024538.1|pseudogene|6/6|n.799+77G>T||||||,T|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding|7/7|c.567+77G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=4377;p3_1000G_AF=0.874002;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=21845;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110201809;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,279:279:99:1|1:109659187_G_T:12500,843,0
chr1	109659190	rs563003	A	G	12410.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=273;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.16;QD=30.17;SOR=1.278;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs563003;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_000850.4|protein_coding|7/7|c.567+80A>G||||||,G|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NR_024538.1|pseudogene|6/6|n.799+80A>G||||||,G|intron_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding|7/7|c.567+80A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4377;p3_1000G_AF=0.874002;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=21857;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110201812;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,272:272:99:1|1:109659187_G_T:12439,837,0
chr1	109668158	rs530021	C	G	1385.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.79;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs530021;dbSNPBuildID=83;ANN=G|splice_region_variant&intron_variant|LOW|GSTM2|GSTM2|transcript|NM_000848.3|protein_coding|1/7|c.36+7C>G||||||,G|splice_region_variant&intron_variant|LOW|GSTM2|GSTM2|transcript|NM_001142368.1|protein_coding|1/8|c.36+7C>G||||||,G|downstream_gene_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding||c.*3127C>G|||||2657|;p3_1000G_AA=G|||;p3_1000G_AC=4531;p3_1000G_AF=0.904752;p3_1000G_AFR_AF=0.8949;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=7757;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.8976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110210780;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8344;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3949,457;ESP6500_AA_AGE=201.5+/-224.5;ESP6500_AA_GTC=1769,411,23;ESP6500_CDS_SIZES=NM_001142368.1:576,NM_000848.3:657;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=37;ESP6500_EA_AC=7909,691;ESP6500_EA_AGE=162.9+/-215.5;ESP6500_EA_GTC=3631,647,22;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001142368.1:intron,NM_000848.3:intron;ESP6500_GL=GSTM2;ESP6500_GRCh38_POSITION=1:109668158;ESP6500_GTC=5400,1058,45;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001142368.1:c.36+7C>G,NM_000848.3:c.36+7C>G;ESP6500_MAF=8.0349,10.3722,8.8267;ESP6500_TAC=11858,1148	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1414,114,0
chr1	109668196	rs2073483	C	T	529.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.88;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2073483;dbSNPBuildID=96;ANN=T|downstream_gene_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding||c.*3165C>T|||||2695|,T|intron_variant|MODIFIER|GSTM2|GSTM2|transcript|NM_000848.3|protein_coding|1/7|c.36+45C>T||||||,T|intron_variant|MODIFIER|GSTM2|GSTM2|transcript|NM_001142368.1|protein_coding|1/8|c.36+45C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2025;p3_1000G_AF=0.404353;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=7115;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110210818;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=693,3561;ESP6500_AA_GTC=76,541,1510;ESP6500_CDS_SIZES=NM_001142368.1:576,NM_000848.3:657;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=10;ESP6500_EA_AC=2978,5414;ESP6500_EA_GTC=545,1888,1763;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001142368.1:intron,NM_000848.3:intron;ESP6500_GL=GSTM2;ESP6500_GRCh38_POSITION=1:109668196;ESP6500_GTC=621,2429,3273;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001142368.1:c.36+45C>T,NM_000848.3:c.36+45C>T;ESP6500_MAF=35.4862,16.2906,29.0289;ESP6500_TAC=3671,8975	GT:AD:DP:GQ:PL	1/1:0,19:19:56:558,56,0
chr1	109669213	rs402505	T	C	2821.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.15;QD=30.1;SOR=3.943;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs402505;dbSNPBuildID=80;ANN=C|downstream_gene_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding||c.*4182T>C|||||3712|,C|intron_variant|MODIFIER|GSTM2|GSTM2|transcript|NM_000848.3|protein_coding|3/7|c.178-77T>C||||||,C|intron_variant|MODIFIER|GSTM2|GSTM2|transcript|NM_001142368.1|protein_coding|3/8|c.178-77T>C||||||	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2850,214,0
chr1	109669671	rs3819350	C	A	532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3819350;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|GSTM4|GSTM4|transcript|NM_147148.2|protein_coding||c.*4640C>A|||||4170|,A|intron_variant|MODIFIER|GSTM2|GSTM2|transcript|NM_000848.3|protein_coding|5/7|c.360+100C>A||||||,A|intron_variant|MODIFIER|GSTM2|GSTM2|transcript|NM_001142368.1|protein_coding|5/8|c.360+100C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1862;p3_1000G_AF=0.371805;p3_1000G_AFR_AF=0.1097;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=17349;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.3489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110212293;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:561,48,0
chr1	109712552	rs929166	T	G	1474.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.3;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0.812;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.026;SOR=0.854;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs929166;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|GSTM5|GSTM5|transcript|NM_000851.3|protein_coding|1/7|c.37-66T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1770;p3_1000G_AF=0.353435;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=13154;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.2793;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110255174;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1503,0,1175
chr1	109712974	rs4970773	C	G	579.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.097;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=9.416;MLEAC=1;MLEAF=0.5;MQ=57.6;MQRankSum=-1.971;QD=20.71;ReadPosRankSum=0.036;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4970773;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|GSTM5|GSTM5|transcript|NM_000851.3|protein_coding|2/7|c.113-145C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=1608;p3_1000G_AF=0.321086;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=18192;p3_1000G_EAS_AF=0.6875;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110255596;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,18:28:99:608,0,339
chr1	109737079	rs7483	C	T	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.777;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-1.806;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7483;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|GSTM3|GSTM3|transcript|NM_000849.4|protein_coding|9/9|c.670G>A|p.Val224Ile|980/4127|670/678|224/225||,T|non_coding_transcript_exon_variant|MODIFIER|GSTM3|GSTM3|transcript|NR_024537.1|pseudogene|8/8|n.904G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1806;p3_1000G_AF=0.360623;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=20552;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.2962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110279701;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=493,3913;ESP6500_AA_AGE=228.8+/-243.5;ESP6500_AA_GTC=29,435,1739;ESP6500_CDS_SIZES=NM_000849.4:678;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=85;ESP6500_EA_AC=2550,6050;ESP6500_EA_AGE=416.3+/-352.1;ESP6500_EA_GTC=377,1796,2127;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000849.4:missense;ESP6500_GL=GSTM3;ESP6500_GRCh38_POSITION=1:109737079;ESP6500_GS=29;ESP6500_GTC=406,2231,3866;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000849.4:c.670G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000849.4:p.(V224I);ESP6500_MAF=29.6512,11.1893,23.3969;ESP6500_PH=benign:0.0;ESP6500_TAC=3043,9963	GT:AD:DP:GQ:PL	0/1:13,12:25:99:273,0,370
chr1	109737199	rs1537234	C	A	884.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1537234;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|GSTM3|GSTM3|transcript|NM_000849.4|protein_coding|8/8|c.580-30G>T||||||,A|intron_variant|MODIFIER|GSTM3|GSTM3|transcript|NR_024537.1|pseudogene|7/7|n.814-30G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2438;p3_1000G_AF=0.486821;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=20359;p3_1000G_EAS_AF=0.8611;p3_1000G_EUR_AF=0.4135;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110279821;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=986,3420;ESP6500_AA_AGE=731.4+/-410.3;ESP6500_AA_GTC=103,780,1320;ESP6500_CDS_SIZES=NM_000849.4:678;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=52;ESP6500_EA_AC=3597,5003;ESP6500_EA_AGE=624.2+/-397.5;ESP6500_EA_GTC=751,2095,1454;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000849.4:intron;ESP6500_GL=GSTM3;ESP6500_GRCh38_POSITION=1:109737199;ESP6500_GTC=854,2875,2774;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000849.4:c.580-30G>T;ESP6500_MAF=41.8256,22.3786,35.2376;ESP6500_TAC=4583,8423	GT:AD:DP:GQ:PL	1/1:0,32:32:96:913,96,0
chr1	109737292	rs1571858	C	T	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.302;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-0.099;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1571858;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|GSTM3|GSTM3|transcript|NM_000849.4|protein_coding|8/8|c.580-123G>A||||||,T|intron_variant|MODIFIER|GSTM3|GSTM3|transcript|NR_024537.1|pseudogene|7/7|n.814-123G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=20203;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110279914;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:186,0,341
chr1	109739319	rs10735234	G	A	650.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10735234;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GSTM3|GSTM3|transcript|NM_000849.4|protein_coding|4/8|c.189+110C>T||||||,A|intron_variant|MODIFIER|GSTM3|GSTM3|transcript|NR_024537.1|pseudogene|3/7|n.423+110C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3748;p3_1000G_AF=0.748403;p3_1000G_AFR_AF=0.8835;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=19408;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.5547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110281941;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:679,63,0
chr1	109740350	rs1332018	G	T	1647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.567;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1332018;dbSNPBuildID=88;ANN=T|5_prime_UTR_variant|MODIFIER|GSTM3|GSTM3|transcript|NM_000849.4|protein_coding|2/9|c.-63C>A|||||63|,T|non_coding_transcript_exon_variant|MODIFIER|GSTM3|GSTM3|transcript|NR_024537.1|pseudogene|2/8|n.248C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3713;p3_1000G_AF=0.741414;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=13495;p3_1000G_EAS_AF=0.8611;p3_1000G_EUR_AF=0.5507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110282972;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1136,248;ESP6500_AA_GTC=470,196,26;ESP6500_CDS_SIZES=NM_000849.4:678;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=30;ESP6500_EA_AC=1828,1354;ESP6500_EA_GTC=532,764,295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000849.4:utr-5;ESP6500_GL=GSTM3;ESP6500_GRCh38_POSITION=1:109740350;ESP6500_GTC=1002,960,321;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000849.4:c.-63C>A;ESP6500_MAF=42.5519,17.9191,35.0854;ESP6500_TAC=2964,1602	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1676,162,0
chr1	109750234	rs15864	G	C	385.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs15864;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_139053.2|protein_coding|19/19|c.*157C>G|||||157|,C|3_prime_UTR_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_001319952.1|protein_coding|18/18|c.*157C>G|||||157|,C|3_prime_UTR_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_024526.3|protein_coding|19/19|c.*157C>G|||||157|,C|3_prime_UTR_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_133181.3|protein_coding|19/19|c.*157C>G|||||157|;p3_1000G_AA=G|||;p3_1000G_AC=1742;p3_1000G_AF=0.347843;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=18477;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110292856;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:414,33,0
chr1	109753150	rs1887547	T	C	1092.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=1.308;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1887547;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|EPS8L3|EPS8L3|transcript|NM_139053.2|protein_coding|13/19|c.1170A>G|p.Ser390Ser|1395/2321|1170/1785|390/594||,C|synonymous_variant|LOW|EPS8L3|EPS8L3|transcript|NM_001319952.1|protein_coding|12/18|c.1068A>G|p.Ser356Ser|1340/2176|1068/1593|356/530||,C|synonymous_variant|LOW|EPS8L3|EPS8L3|transcript|NM_024526.3|protein_coding|13/19|c.1167A>G|p.Ser389Ser|1392/2228|1167/1692|389/563||,C|synonymous_variant|LOW|EPS8L3|EPS8L3|transcript|NM_133181.3|protein_coding|13/19|c.1167A>G|p.Ser389Ser|1392/2318|1167/1782|389/593||;p3_1000G_AA=C|||;p3_1000G_AC=3857;p3_1000G_AF=0.770168;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=18606;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.5795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110295772;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3814,592;ESP6500_AA_AGE=261.3+/-264.2;ESP6500_AA_GTC=1652,510,41;ESP6500_CDS_SIZES=NM_139053.2:1785,NM_133181.3:1782,NM_024526.3:1692;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=98;ESP6500_EA_AC=5151,3449;ESP6500_EA_AGE=506.9+/-376.7;ESP6500_EA_GTC=1556,2039,705;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139053.2:coding-synonymous,NM_133181.3:coding-synonymous,NM_024526.3:coding-synonymous;ESP6500_GL=EPS8L3;ESP6500_GRCh38_POSITION=1:109753150;ESP6500_GTC=3208,2549,746;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_139053.2:c.1170A>G,NM_133181.3:c.1167A>G,NM_024526.3:c.1167A>G;ESP6500_HGVS_PROTEIN_VAR=NM_139053.2:p.(S390),NM_133181.3:p.(S389),NM_024526.3:p.(S389);ESP6500_MAF=40.1047,13.4362,31.0703;ESP6500_TAC=8965,4041	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1121,105,0
chr1	109753268	rs1887548	C	G	574.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.78;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1887548;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_139053.2|protein_coding|12/18|c.1122-70G>C||||||,G|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_001319952.1|protein_coding|11/17|c.1020-70G>C||||||,G|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_024526.3|protein_coding|12/18|c.1119-70G>C||||||,G|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_133181.3|protein_coding|12/18|c.1119-70G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3842;p3_1000G_AF=0.767173;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=19876;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110295890;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:603,45,0
chr1	109757819	rs3818562	G	A	912.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3818562;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|EPS8L3|EPS8L3|transcript|NM_139053.2|protein_coding|10/19|c.880C>T|p.His294Tyr|1105/2321|880/1785|294/594||,A|missense_variant|MODERATE|EPS8L3|EPS8L3|transcript|NM_001319952.1|protein_coding|9/18|c.778C>T|p.His260Tyr|1050/2176|778/1593|260/530||,A|missense_variant|MODERATE|EPS8L3|EPS8L3|transcript|NM_024526.3|protein_coding|10/19|c.877C>T|p.His293Tyr|1102/2228|877/1692|293/563||,A|missense_variant|MODERATE|EPS8L3|EPS8L3|transcript|NM_133181.3|protein_coding|10/19|c.877C>T|p.His293Tyr|1102/2318|877/1782|293/593||;p3_1000G_AA=A|||;p3_1000G_AC=2370;p3_1000G_AF=0.473243;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=15372;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.4712;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110300441;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1023,3383;ESP6500_AA_AGE=728.2+/-409.9;ESP6500_AA_GTC=129,765,1309;ESP6500_CDS_SIZES=NM_139053.2:1785,NM_133181.3:1782,NM_024526.3:1692;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=130;ESP6500_EA_AC=4224,4376;ESP6500_EA_AGE=581.6+/-391.3;ESP6500_EA_GTC=1000,2224,1076;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_139053.2:missense,NM_133181.3:missense,NM_024526.3:missense;ESP6500_GL=EPS8L3;ESP6500_GRCh38_POSITION=1:109757819;ESP6500_GS=83,83,83;ESP6500_GTC=1129,2989,2385;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_139053.2:c.880C>T,NM_133181.3:c.877C>T,NM_024526.3:c.877C>T;ESP6500_HGVS_PROTEIN_VAR=NM_139053.2:p.(H294Y),NM_133181.3:p.(H293Y),NM_024526.3:p.(H293Y);ESP6500_MAF=49.1163,23.2183,40.3429;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=5247,7759	GT:AD:DP:GQ:PL	1/1:0,29:29:87:941,87,0
chr1	109757882	rs10776700	A	G	935.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10776700;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_139053.2|protein_coding|9/18|c.836-19T>C||||||,G|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_001319952.1|protein_coding|8/17|c.734-19T>C||||||,G|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_024526.3|protein_coding|9/18|c.833-19T>C||||||,G|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_133181.3|protein_coding|9/18|c.833-19T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=15712;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9712;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110300504;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4379,27;ESP6500_AA_AGE=33.5+/-64.1;ESP6500_AA_GTC=2176,27,0;ESP6500_CDS_SIZES=NM_139053.2:1785,NM_133181.3:1782,NM_024526.3:1692;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=183;ESP6500_EA_AC=8392,208;ESP6500_EA_AGE=88.6+/-150.9;ESP6500_EA_GTC=4093,206,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139053.2:intron,NM_133181.3:intron,NM_024526.3:intron;ESP6500_GL=EPS8L3;ESP6500_GRCh38_POSITION=1:109757882;ESP6500_GTC=6269,233,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_139053.2:c.836-19T>C,NM_133181.3:c.833-19T>C,NM_024526.3:c.833-19T>C;ESP6500_MAF=2.4186,0.6128,1.8069;ESP6500_TAC=12771,235	GT:AD:DP:GQ:PL	1/1:0,31:31:93:964,93,0
chr1	109759144	rs373516452;rs779910111;rs879164242	AGTGT	A	901.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.27;SOR=2.833;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs373516452;dbSNPBuildID=138,147,144;ANN=A|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_139053.2|protein_coding|5/18|c.406-31_406-28delACAC||||||,A|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_001319952.1|protein_coding|4/17|c.304-31_304-28delACAC||||||,A|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_024526.3|protein_coding|5/18|c.406-31_406-28delACAC||||||,A|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_133181.3|protein_coding|5/18|c.406-31_406-28delACAC||||||	GT:AD:DP:GQ:PL	1/0:0,16:16:99:939,234,177
chr1	109759144	.	AGTGT	AGT	901.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.27;SOR=2.833;DEL;HET;VARTYPE=DEL;ANN=AGT|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_139053.2|protein_coding|5/18|c.406-31_406-30delAC||||||,AGT|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_001319952.1|protein_coding|4/17|c.304-31_304-30delAC||||||,AGT|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_024526.3|protein_coding|5/18|c.406-31_406-30delAC||||||,AGT|intron_variant|MODIFIER|EPS8L3|EPS8L3|transcript|NM_133181.3|protein_coding|5/18|c.406-31_406-30delAC||||||	GT:AD:DP:GQ:PL	0/1:0,9:9:99:939,521,447
chr1	109923716	rs333970	C	A	1983.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.17;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs333970;dbSNPBuildID=79;ANN=A|splice_region_variant&intron_variant|LOW|CSF1|CSF1|transcript|NM_172210.2|protein_coding|6/8|c.1090+5C>A||||||,A|synonymous_variant|LOW|CSF1|CSF1|transcript|NM_000757.5|protein_coding|6/9|c.1095C>A|p.Thr365Thr|1508/4234|1095/1665|365/554||,A|synonymous_variant|LOW|CSF1|CSF1|transcript|NM_172212.2|protein_coding|6/9|c.1095C>A|p.Thr365Thr|1508/2772|1095/1665|365/554||,A|sequence_feature|LOW|CSF1|CSF1|glycosylation-site:O-linked_(GalNAc...)|NM_172212.2|protein_coding|6/9|c.1095C>A||||||,A|intron_variant|MODIFIER|CSF1|CSF1|transcript|NM_172211.3|protein_coding|5/8|c.545-344C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2154;p3_1000G_AF=0.430112;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=17431;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110466338;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=843,3563;ESP6500_AA_AGE=328.8+/-300.7;ESP6500_AA_GTC=89,665,1449;ESP6500_CDS_SIZES=NM_172212.2:1665,NM_172211.3:771,NM_172210.2:1317,NM_000757.5:1665;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=56;ESP6500_EA_AC=5200,3400;ESP6500_EA_AGE=632.1+/-398.6;ESP6500_EA_GTC=1572,2056,672;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172212.2:coding-synonymous,NM_172211.3:intron,NM_172210.2:intron,NM_000757.5:coding-synonymous;ESP6500_GL=CSF1;ESP6500_GRCh38_POSITION=1:109923716;ESP6500_GTC=1661,2721,2121;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_172212.2:c.1095C>A,NM_172211.3:c.545-344C>A,NM_172210.2:c.1090+5C>A,NM_000757.5:c.1095C>A;ESP6500_HGVS_PROTEIN_VAR=NM_172212.2:p.(T365),.,.,NM_000757.5:p.(T365);ESP6500_MAF=39.5349,19.133,46.4632;ESP6500_TAC=6043,6963	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2012,204,0
chr1	109924087	rs333971	T	C	1685.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=0.877;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs333971;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|CSF1|CSF1|transcript|NM_000757.5|protein_coding|6/9|c.1466T>C|p.Phe489Ser|1879/4234|1466/1665|489/554||,C|missense_variant|MODERATE|CSF1|CSF1|transcript|NM_172210.2|protein_coding|7/9|c.1118T>C|p.Phe373Ser|1531/1743|1118/1317|373/438||,C|missense_variant|MODERATE|CSF1|CSF1|transcript|NM_172212.2|protein_coding|6/9|c.1466T>C|p.Phe489Ser|1879/2772|1466/1665|489/554||,C|missense_variant|MODERATE|CSF1|CSF1|transcript|NM_172211.3|protein_coding|6/9|c.572T>C|p.Phe191Ser|985/3340|572/771|191/256||;p3_1000G_AA=C|||;p3_1000G_AC=4992;p3_1000G_AF=0.996805;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16704;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110466709;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4365,41;ESP6500_AA_AGE=44.6+/-78.6;ESP6500_AA_GTC=2162,41,0;ESP6500_CDS_SIZES=NM_172212.2:1665,NM_172211.3:771,NM_172210.2:1317,NM_000757.5:1665;ESP6500_CG=4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=57;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_172212.2:missense,NM_172211.3:missense,NM_172210.2:missense,NM_000757.5:missense;ESP6500_GL=CSF1;ESP6500_GRCh38_POSITION=1:109924087;ESP6500_GS=155,155,155,155;ESP6500_GTC=6462,41,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172212.2:c.1466T>C,NM_172211.3:c.572T>C,NM_172210.2:c.1118T>C,NM_000757.5:c.1466T>C;ESP6500_HGVS_PROTEIN_VAR=NM_172212.2:p.(F489S),NM_172211.3:p.(F191S),NM_172210.2:p.(F373S),NM_000757.5:p.(F489S);ESP6500_MAF=0.0,0.9305,0.3152;ESP6500_PH=benign:0.002,benign:0.002,benign:0.002,benign:0.002;ESP6500_TAC=12965,41	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1714,171,0
chr1	109925123	rs333972	A	G	883.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs333972;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|CSF1|CSF1|transcript|NM_000757.5|protein_coding|7/8|c.1623-24A>G||||||,G|intron_variant|MODIFIER|CSF1|CSF1|transcript|NM_172210.2|protein_coding|8/8|c.1275-24A>G||||||,G|intron_variant|MODIFIER|CSF1|CSF1|transcript|NM_172212.2|protein_coding|7/8|c.1623-24A>G||||||,G|intron_variant|MODIFIER|CSF1|CSF1|transcript|NM_172211.3|protein_coding|7/8|c.729-24A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4992;p3_1000G_AF=0.996805;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16603;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110467745;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4365,41;ESP6500_AA_AGE=44.6+/-78.6;ESP6500_AA_GTC=2162,41,0;ESP6500_CDS_SIZES=NM_172212.2:1665,NM_172211.3:771,NM_172210.2:1317,NM_000757.5:1665;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=98;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172212.2:intron,NM_172211.3:intron,NM_172210.2:intron,NM_000757.5:intron;ESP6500_GL=CSF1;ESP6500_GRCh38_POSITION=1:109925123;ESP6500_GTC=6462,41,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172212.2:c.1623-24A>G,NM_172211.3:c.729-24A>G,NM_172210.2:c.1275-24A>G,NM_000757.5:c.1623-24A>G;ESP6500_MAF=0.0,0.9305,0.3152;ESP6500_TAC=12965,41	GT:AD:DP:GQ:PL	1/1:0,28:28:84:912,84,0
chr1	110015654	rs11384766	A	AC	431.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.67;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs72502384,rs11384766;dbSNPBuildID=130;ANN=AC|intron_variant|MODIFIER|AHCYL1|AHCYL1|transcript|NM_006621.5|protein_coding|7/16|c.782+123_782+124insC||||||,AC|intron_variant|MODIFIER|AHCYL1|AHCYL1|transcript|NM_001242673.1|protein_coding|7/16|c.641+123_641+124insC||||||,AC|intron_variant|MODIFIER|AHCYL1|AHCYL1|transcript|NM_001242674.1|protein_coding|8/17|c.641+123_641+124insC||||||,AC|intron_variant|MODIFIER|AHCYL1|AHCYL1|transcript|NM_001242675.1|protein_coding|7/16|c.641+123_641+124insC||||||,AC|intron_variant|MODIFIER|AHCYL1|AHCYL1|transcript|NM_001242676.1|protein_coding|7/16|c.641+123_641+124insC||||||;p3_1000G_AA=C|-|C|deletion;p3_1000G_AC=4820;p3_1000G_AF=0.96246;p3_1000G_AFR_AF=0.8654;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=17392;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110558276;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:36:469,36,0
chr1	110039158	rs1834	T	G	384.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.76;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.569;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1834;dbSNPBuildID=36;ANN=G|intron_variant|MODIFIER|STRIP1|STRIP1|transcript|NM_033088.3|protein_coding|3/20|c.326-14T>G||||||,G|intron_variant|MODIFIER|STRIP1|STRIP1|transcript|NM_001270768.1|protein_coding|3/20|c.41-14T>G||||||,G|intron_variant|MODIFIER|STRIP1|STRIP1|transcript|NR_073071.1|pseudogene|3/21|n.363-14T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1492;p3_1000G_AF=0.297923;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=20366;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110581780;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=816,3590;ESP6500_AA_AGE=324.8+/-298.8;ESP6500_AA_GTC=88,640,1475;ESP6500_CDS_SIZES=NM_033088.2:2514;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=64;ESP6500_EA_AC=1523,7077;ESP6500_EA_AGE=287.4+/-298.2;ESP6500_EA_GTC=115,1293,2892;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033088.2:intron;ESP6500_GL=FAM40A;ESP6500_GRCh38_POSITION=1:110039158;ESP6500_GTC=203,1933,4367;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_033088.2:c.326-14T>G;ESP6500_MAF=17.7093,18.5202,17.984;ESP6500_TAC=2339,10667	GT:AD:DP:GQ:PL	0/1:12,12:24:99:413,0,398
chr1	110049426	rs529172763	CT	C	96.5	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.887;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.15;SOR=0.33;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|STRIP1|STRIP1|transcript|NM_033088.3|protein_coding|16/20|c.1789-15delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|STRIP1|STRIP1|transcript|NM_001270768.1|protein_coding|16/20|c.1504-15delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|STRIP1|STRIP1|transcript|NR_073071.1|pseudogene|17/21|n.1940-15delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2078;p3_1000G_AF=0.414936;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=10787;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.3986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110592048;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.409;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,7:8:3:132,3,0
chr1	110060664	rs144523285;rs4520416	A	AGGTGCTTCCTCCGTGGTGTCCAGGCAGG	190.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.799;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-2.744;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs144523285;dbSNPBuildID=134;ANN=AGGTGCTTCCTCCGTGGTGTCCAGGCAGG|3_prime_UTR_variant|MODIFIER|ALX3|ALX3|transcript|NM_006492.2|protein_coding|4/4|c.*68_*69insCCTGCCTGGACACCACGGAGGAAGCACC|||||68|;p3_1000G_AC=3605;p3_1000G_AF=0.719848;p3_1000G_AFR_AF=0.7927;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=20548;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110603286;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:8,4:12:99:228,0,501
chr1	110174168	rs12033312	C	T	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.626;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.677;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12033312;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC6A17|SLC6A17|transcript|NM_001010898.2|protein_coding|4/11|c.571+69C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=42;p3_1000G_AF=0.00838658;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19612;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110716790;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:219,0,332
chr1	110339822	rs814771	A	G	944.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=4.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=2.86;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs814771;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|RBM15|RBM15|transcript|NM_022768.4|protein_coding|1/3|c.417A>G|p.Glu139Glu|500/3431|417/2934|139/977||,G|synonymous_variant|LOW|RBM15|RBM15|transcript|NM_001201545.1|protein_coding|1/2|c.417A>G|p.Glu139Glu|500/3320|417/2910|139/969||,G|upstream_gene_variant|MODIFIER|LOC440600|LOC440600|transcript|NR_036595.1|pseudogene||n.-651T>C|||||651|;p3_1000G_AA=G|||;p3_1000G_AC=4121;p3_1000G_AF=0.822883;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=13727;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.6879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110882444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3974,308;ESP6500_AA_GTC=1853,268,20;ESP6500_CDS_SIZES=NM_022768.4:2934,NM_001201545.1:2910;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=16;ESP6500_EA_AC=6147,2353;ESP6500_EA_GTC=2215,1717,318;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022768.4:coding-synonymous,NM_001201545.1:coding-synonymous;ESP6500_GL=RBM15;ESP6500_GRCh38_POSITION=1:110339822;ESP6500_GTC=4068,1985,338;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022768.4:c.417A>G,NM_001201545.1:c.417A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022768.4:p.(E139),NM_001201545.1:p.(E139);ESP6500_MAF=27.6824,7.1929,20.8183;ESP6500_TAC=10121,2661	GT:AD:DP:GQ:PL	0/1:20,30:50:99:973,0,536
chr1	110341295	rs3738751	A	G	1219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.486;SOR=0.71;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738751;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|RBM15|RBM15|transcript|NM_022768.4|protein_coding|1/3|c.1890A>G|p.Arg630Arg|1973/3431|1890/2934|630/977||,G|synonymous_variant|LOW|RBM15|RBM15|transcript|NM_001201545.1|protein_coding|1/2|c.1890A>G|p.Arg630Arg|1973/3320|1890/2910|630/969||,G|upstream_gene_variant|MODIFIER|LOC440600|LOC440600|transcript|NR_036595.1|pseudogene||n.-2124T>C|||||2124|;p3_1000G_AA=A|||;p3_1000G_AC=352;p3_1000G_AF=0.0702875;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=18581;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110883917;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0297;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=93,4313;ESP6500_AA_AGE=76.2+/-114.5;ESP6500_AA_GTC=0,93,2110;ESP6500_CDS_SIZES=NM_022768.4:2934,NM_001201545.1:2910;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=50;ESP6500_EA_AC=11,8589;ESP6500_EA_AGE=7.7+/-29.5;ESP6500_EA_GTC=0,11,4289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022768.4:coding-synonymous,NM_001201545.1:coding-synonymous;ESP6500_GL=RBM15;ESP6500_GRCh38_POSITION=1:110341295;ESP6500_GTC=0,104,6399;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022768.4:c.1890A>G,NM_001201545.1:c.1890A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022768.4:p.(R630),NM_001201545.1:p.(R630);ESP6500_MAF=0.1279,2.1108,0.7996;ESP6500_TAC=104,12902	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1248,0,1358
chr1	110389161	rs80270177	C	T	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.498;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.737;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.49;ReadPosRankSum=-0.121;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80270177;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|SLC16A4|SLC16A4|transcript|NM_004696.2|protein_coding|2/8|c.87+76G>A||||||,T|intron_variant|MODIFIER|SLC16A4|SLC16A4|transcript|NM_001201546.1|protein_coding|2/7|c.87+76G>A||||||,T|intron_variant|MODIFIER|SLC16A4|SLC16A4|transcript|NM_001201547.1|protein_coding|2/7|c.34+76G>A||||||,T|intron_variant|MODIFIER|SLC16A4|SLC16A4|transcript|NM_001201548.1|protein_coding|2/6|c.34+76G>A||||||,T|intron_variant|MODIFIER|SLC16A4|SLC16A4|transcript|NM_001201549.1|protein_coding|2/7|c.87+76G>A||||||,T|intron_variant|MODIFIER|SLC16A4|SLC16A4|transcript|NM_001319220.1|protein_coding|2/6|c.34+76G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=353;p3_1000G_AF=0.0704872;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=19609;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110931783;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,16:22:99:457,0,115
chr1	110407098	rs6671673	C	T	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.88;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.23;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6671673;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|LAMTOR5-AS1|LAMTOR5-AS1|transcript|NR_102697.1|pseudogene||n.-711C>T|||||711|,T|intron_variant|MODIFIER|LAMTOR5|LAMTOR5|transcript|NM_006402.2|protein_coding|1/3|c.281+488G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2892;p3_1000G_AF=0.577476;p3_1000G_AFR_AF=0.6452;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=17389;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110949720;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:164,0,147
chr1	110518130	rs34970857	C	T	1034.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.658;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0.856;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.808;SOR=0.59;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34970857;dbSNPBuildID=126;ANN=T|missense_variant|MODERATE|KCNA10|KCNA10|transcript|NM_005549.2|protein_coding|1/1|c.658G>A|p.Val220Met|1046/1959|658/1536|220/511||;p3_1000G_AA=C|||;p3_1000G_AC=364;p3_1000G_AF=0.0726837;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=19341;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.0716;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111060752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=137,4269;ESP6500_AA_AGE=97.6+/-136.3;ESP6500_AA_GTC=1,135,2067;ESP6500_CDS_SIZES=NM_005549.2:1536;ESP6500_CG=4.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=106;ESP6500_EA_AC=644,7956;ESP6500_EA_AGE=165.4+/-217.5;ESP6500_EA_GTC=29,586,3685;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005549.2:missense;ESP6500_GL=KCNA10;ESP6500_GRCh38_POSITION=1:110518130;ESP6500_GS=21;ESP6500_GTC=30,721,5752;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005549.2:c.658G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005549.2:p.(V220M);ESP6500_MAF=7.4884,3.1094,6.0049;ESP6500_PH=possibly-damaging:0.832;ESP6500_TAC=781,12225	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1063,0,944
chr1	110593979	rs187477463	A	G	565.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.9;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.18;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.25;ReadPosRankSum=1.94;SOR=1.104;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187477463;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|KCNA2|KCNA2|transcript|NM_001204269.1|protein_coding|4/4|c.1036-51T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=18;p3_1000G_AF=0.00359425;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15454;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111136601;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,18:31:99:0|1:110593979_A_G:594,0,394
chr1	110593989	rs17026168	G	A	1303.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.88;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17026168;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|KCNA2|KCNA2|transcript|NM_001204269.1|protein_coding|4/4|c.1036-61C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=969;p3_1000G_AF=0.19349;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=15208;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.0696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111136611;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,34:34:99:1|1:110593979_A_G:1332,102,0
chr1	110601904	rs4839071	T	G	187.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4839071;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|KCNA2|KCNA2|transcript|NM_004974.3|protein_coding||c.*1379A>C|||||1250|,G|intron_variant|MODIFIER|KCNA2|KCNA2|transcript|NM_001204269.1|protein_coding|4/4|c.1035+126A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5002;p3_1000G_AF=0.998802;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17448;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111144526;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:216,18,0
chr1	110848002	rs1491364218	ATT	A	82.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=59.45;MQRankSum=0;QD=13.79;ReadPosRankSum=0;SOR=0.105;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|KCNA3-CD53|KCNA3-CD53|intergenic_region|KCNA3-CD53|||n.110848003_110848004delTT||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:35:120,0,35
chr1	110894235	rs1578956	T	G	1411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1578956;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|CD53|CD53|transcript|NM_000560.3|protein_coding|3/7|c.253-92T>G||||||,G|intron_variant|MODIFIER|CD53|CD53|transcript|NM_001040033.1|protein_coding|4/8|c.253-92T>G||||||,G|intron_variant|MODIFIER|CD53|CD53|transcript|NM_001320638.1|protein_coding|3/5|c.253-92T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2803;p3_1000G_AF=0.559704;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=22655;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111436857;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:96:1|1:110894235_T_G:1440,96,0
chr1	110894236	rs1936943	C	T	1411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.53;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1936943;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|CD53|CD53|transcript|NM_000560.3|protein_coding|3/7|c.253-91C>T||||||,T|intron_variant|MODIFIER|CD53|CD53|transcript|NM_001040033.1|protein_coding|4/8|c.253-91C>T||||||,T|intron_variant|MODIFIER|CD53|CD53|transcript|NM_001320638.1|protein_coding|3/5|c.253-91C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2803;p3_1000G_AF=0.559704;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=22680;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111436858;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:96:1|1:110894235_T_G:1440,96,0
chr1	110894507	rs1343817	A	C	576.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1343817;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|CD53|CD53|transcript|NM_000560.3|protein_coding|4/7|c.327+106A>C||||||,C|intron_variant|MODIFIER|CD53|CD53|transcript|NM_001040033.1|protein_coding|5/8|c.327+106A>C||||||,C|intron_variant|MODIFIER|CD53|CD53|transcript|NM_001320638.1|protein_coding|4/5|c.327+106A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1963;p3_1000G_AF=0.391973;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=22507;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.504;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111437129;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:605,45,0
chr1	110899207	rs1803259	C	T	1447.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=1.556;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1803259;dbSNPBuildID=89;ANN=T|3_prime_UTR_variant|MODIFIER|CD53|CD53|transcript|NM_000560.3|protein_coding|8/8|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|CD53|CD53|transcript|NM_001040033.1|protein_coding|9/9|c.*12C>T|||||12|,T|3_prime_UTR_variant|MODIFIER|CD53|CD53|transcript|NM_001320638.1|protein_coding|6/6|c.*12C>T|||||12|;p3_1000G_AA=C|||;p3_1000G_AC=2788;p3_1000G_AF=0.556709;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=21317;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.7614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111441829;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1711,2695;ESP6500_AA_AGE=514.9+/-368.7;ESP6500_AA_GTC=359,993,851;ESP6500_CDS_SIZES=NM_001040033.1:660,NM_000560.3:660;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=90;ESP6500_EA_AC=6566,2034;ESP6500_EA_AGE=720.4+/-406.3;ESP6500_EA_GTC=2516,1534,250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001040033.1:utr-3,NM_000560.3:utr-3;ESP6500_GL=CD53;ESP6500_GRCh38_POSITION=1:110899207;ESP6500_GTC=2875,2527,1101;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001040033.1:c.*12C>T,NM_000560.3:c.*12C>T;ESP6500_MAF=23.6512,38.8334,36.3601;ESP6500_TAC=8277,4729	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1476,126,0
chr1	110950185	rs2232044	G	A	333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2232044;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|LRIF1|LRIF1|transcript|NM_018372.3|protein_coding|2/3|c.1597-62C>T||||||,A|intron_variant|MODIFIER|LRIF1|LRIF1|transcript|NM_001006945.1|protein_coding|1/2|c.-12-62C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=20214;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.2425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111492807;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:362,30,0
chr1	111183591	rs694180	A	G	1170.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=1.209;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs694180;dbSNPBuildID=83;ANN=G|splice_region_variant&intron_variant|LOW|CEPT1|CEPT1|transcript|NM_001007794.1|protein_coding|8/8|c.1131+4A>G||||||,G|splice_region_variant&intron_variant|LOW|CEPT1|CEPT1|transcript|NM_006090.3|protein_coding|8/8|c.1131+4A>G||||||,G|downstream_gene_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_024901.4|protein_coding||c.*4014T>C|||||2378|,G|downstream_gene_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_001271833.1|protein_coding||c.*4014T>C|||||2378|;p3_1000G_AA=a|||;p3_1000G_AC=3781;p3_1000G_AF=0.754992;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=19904;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.6431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111726213;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3599,807;ESP6500_AA_AGE=749.7+/-412.0;ESP6500_AA_GTC=1473,653,77;ESP6500_CDS_SIZES=NM_006090.3:1251,NM_001007794.1:1251;ESP6500_CG=-3.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=126;ESP6500_EA_AC=5636,2964;ESP6500_EA_AGE=664.5+/-402.2;ESP6500_EA_GTC=1858,1920,522;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006090.3:intron,NM_001007794.1:intron;ESP6500_GL=CEPT1;ESP6500_GRCh38_POSITION=1:111183591;ESP6500_GTC=3331,2573,599;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006090.3:c.1131+4A>G,NM_001007794.1:c.1131+4A>G;ESP6500_MAF=34.4651,18.3159,28.9943;ESP6500_TAC=9235,3771	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1199,108,0
chr1	111184247	rs3795823	G	A	1623.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29;SOR=0.841;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795823;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|CEPT1|CEPT1|transcript|NM_001007794.1|protein_coding|9/9|c.1188G>A|p.Ala396Ala|1396/2251|1188/1251|396/416||,A|synonymous_variant|LOW|CEPT1|CEPT1|transcript|NM_006090.3|protein_coding|9/9|c.1188G>A|p.Ala396Ala|1358/2213|1188/1251|396/416||,A|downstream_gene_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_024901.4|protein_coding||c.*3358C>T|||||1722|,A|downstream_gene_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_001271833.1|protein_coding||c.*3358C>T|||||1722|;p3_1000G_AA=G|||;p3_1000G_AC=948;p3_1000G_AF=0.189297;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=18778;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.2823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111726869;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=323,4083;ESP6500_AA_AGE=171.2+/-201.5;ESP6500_AA_GTC=12,299,1892;ESP6500_CDS_SIZES=NM_006090.3:1251,NM_001007794.1:1251;ESP6500_CG=-11.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=175;ESP6500_EA_AC=2363,6237;ESP6500_EA_AGE=395.1+/-345.0;ESP6500_EA_GTC=335,1693,2272;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006090.3:coding-synonymous,NM_001007794.1:coding-synonymous;ESP6500_GL=CEPT1;ESP6500_GRCh38_POSITION=1:111184247;ESP6500_GTC=347,1992,4164;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006090.3:c.1188G>A,NM_001007794.1:c.1188G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006090.3:p.(A396),NM_001007794.1:p.(A396);ESP6500_MAF=27.4767,7.3309,20.652;ESP6500_TAC=2686,10320	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1652,168,0
chr1	111188593	rs2297702	G	A	864.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.59;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297702;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|CEPT1|CEPT1|transcript|NM_001007794.1|protein_coding||c.*4283G>A|||||3491|,A|downstream_gene_variant|MODIFIER|CEPT1|CEPT1|transcript|NM_006090.3|protein_coding||c.*4283G>A|||||3491|,A|intron_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_024901.4|protein_coding|10/11|c.1099+109C>T||||||,A|intron_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_001271833.1|protein_coding|10/11|c.1090+109C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=353;p3_1000G_AF=0.0704872;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=20997;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.0785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111731215;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:893,75,0
chr1	111194561	rs660173	C	T	1899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs660173;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_024901.4|protein_coding|7/11|c.794+17G>A||||||,T|intron_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_001271833.1|protein_coding|7/11|c.785+17G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3846;p3_1000G_AF=0.767971;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=20781;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111737183;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8528;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3585,821;ESP6500_AA_AGE=322.9+/-297.8;ESP6500_AA_GTC=1465,655,83;ESP6500_CDS_SIZES=NM_024901.3:1416;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=42;ESP6500_EA_AC=5833,2767;ESP6500_EA_AGE=430.6+/-356.6;ESP6500_EA_GTC=1975,1883,442;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024901.3:intron;ESP6500_GL=DENND2D;ESP6500_GRCh38_POSITION=1:111194561;ESP6500_GTC=3440,2538,525;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024901.3:c.794+17G>A;ESP6500_MAF=32.1744,18.6337,27.5873;ESP6500_TAC=9418,3588	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1928,183,0
chr1	111194776	rs9970286	G	A	1595.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.29;SOR=2.17;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9970286;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_024901.4|protein_coding|6/11|c.646-50C>T||||||,A|intron_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_001271833.1|protein_coding|6/11|c.637-50C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1522;p3_1000G_AF=0.303914;p3_1000G_AFR_AF=0.3071;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=18135;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111737398;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1289,3117;ESP6500_AA_AGE=428.9+/-342.0;ESP6500_AA_GTC=192,905,1106;ESP6500_CDS_SIZES=NM_024901.3:1416;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=49;ESP6500_EA_AC=2641,5959;ESP6500_EA_AGE=422.3+/-354.0;ESP6500_EA_GTC=393,1855,2052;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024901.3:intron;ESP6500_GL=DENND2D;ESP6500_GRCh38_POSITION=1:111194776;ESP6500_GTC=585,2760,3158;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024901.3:c.646-50C>T;ESP6500_MAF=30.7093,29.2556,30.2168;ESP6500_TAC=3930,9076	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1624,153,0
chr1	111197149	rs3833538	G	GCAGGACAAA	2830.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=0.76;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs6143371,rs3833538;dbSNPBuildID=107;ANN=GCAGGACAAA|intron_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_024901.4|protein_coding|5/11|c.504+26_504+27insTTTGTCCTG||||||,GCAGGACAAA|intron_variant|MODIFIER|DENND2D|DENND2D|transcript|NM_001271833.1|protein_coding|5/11|c.495+26_495+27insTTTGTCCTG||||||;p3_1000G_AC=3006;p3_1000G_AF=0.60024;p3_1000G_AFR_AF=0.7224;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=17522;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111739771;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=INDEL;ESP6500_AA_AC=2688,1566;ESP6500_AA_GTC=886,916,325;ESP6500_CDS_SIZES=NM_024901.3:1416;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=25;ESP6500_EA_AC=3256,4976;ESP6500_EA_GTC=674,1908,1534;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024901.3:intron;ESP6500_GL=DENND2D;ESP6500_GRCh38_POSITION=1:111197149;ESP6500_GTC=1560,2824,1859;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024901.3:c.504+26_504+27insTTTGTCCTG;ESP6500_MAF=39.553,36.8124,47.6053;ESP6500_TAC=5944,6542	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2868,195,0
chr1	111227801	rs755467	T	G	933.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs755467;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding||c.-3108T>G|||||1910|,G|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|1/10|c.40+32T>G||||||,G|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|1/9|c.40+32T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3460;p3_1000G_AF=0.690895;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=21331;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.6978;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111770423;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2903,1503;ESP6500_AA_AGE=478.3+/-358.2;ESP6500_AA_GTC=959,985,259;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025197.1:1143;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=80;ESP6500_EA_AC=6157,2443;ESP6500_EA_AGE=402.6+/-347.5;ESP6500_EA_GTC=2198,1761,341;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:intron,NM_001025197.1:intron;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111227801;ESP6500_GTC=3157,2746,600;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.40+32T>G,NM_001025197.1:c.40+32T>G;ESP6500_MAF=28.407,34.1126,30.3398;ESP6500_TAC=9060,3946	GT:AD:DP:GQ:PL	1/1:0,29:29:87:962,87,0
chr1	111229743	rs12070867	G	T	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.352;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.492;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12070867;dbSNPBuildID=120;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|1/10|c.-306G>T||||||,T|5_prime_UTR_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|1/10|c.-306G>T|||||1166|,T|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|1/10|c.41-109G>T||||||,T|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|1/9|c.41-999G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=331;p3_1000G_AF=0.0660942;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=12997;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111772365;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:139,0,416
chr1	111230651	rs12068735	T	C	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.6;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=5.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=1.29;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12068735;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|2/10|c.71-91T>C||||||,C|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|1/9|c.41-91T>C||||||,C|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|1/9|c.-167-91T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=891;p3_1000G_AF=0.177915;p3_1000G_AFR_AF=0.23;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=19862;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.1272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111773273;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:388,0,307
chr1	111230946	rs2255089	G	C	769.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.354;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=0.932;SOR=1.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2255089;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|3/10|c.272+3G>C||||||,C|splice_region_variant&intron_variant|LOW|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|2/9|c.242+3G>C||||||,C|splice_region_variant&intron_variant|LOW|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|2/9|c.35+3G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2028;p3_1000G_AF=0.404952;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=21540;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.4513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111773568;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1256,3150;ESP6500_AA_AGE=701.2+/-406.7;ESP6500_AA_GTC=176,904,1123;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025199.1:936,NM_001025197.1:1143;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=3777,4823;ESP6500_EA_AGE=610.5+/-395.7;ESP6500_EA_GTC=838,2101,1361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:intron,NM_001025199.1:intron,NM_001025197.1:intron;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111230946;ESP6500_GTC=1014,3005,2484;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.272+3G>C,NM_001025199.1:c.35+3G>C,NM_001025197.1:c.242+3G>C;ESP6500_MAF=43.9186,28.5066,38.6975;ESP6500_TAC=5033,7973	GT:AD:DP:GQ:PL	0/1:22,25:47:99:798,0,606
chr1	111230978	rs2274232	A	G	594.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.01;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.19;ReadPosRankSum=1.81;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274232;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|3/10|c.272+35A>G||||||,G|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|2/9|c.242+35A>G||||||,G|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|2/9|c.35+35A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=782;p3_1000G_AF=0.15615;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=21381;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.0885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111773600;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=250,4156;ESP6500_AA_AGE=791.2+/-415.1;ESP6500_AA_GTC=6,238,1959;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025199.1:936,NM_001025197.1:1143;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=32;ESP6500_EA_AC=670,7930;ESP6500_EA_AGE=775.4+/-407.7;ESP6500_EA_GTC=30,610,3660;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:intron,NM_001025199.1:intron,NM_001025197.1:intron;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111230978;ESP6500_GTC=36,848,5619;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.272+35A>G,NM_001025199.1:c.35+35A>G,NM_001025197.1:c.242+35A>G;ESP6500_MAF=7.7907,5.6741,7.0737;ESP6500_TAC=920,12086	GT:AD:DP:GQ:PL	0/1:13,18:31:99:623,0,344
chr1	111231208	rs2147789	A	T	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.234;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=9.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=1.95;SOR=0.137;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2147789;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|3/10|c.273-30A>T||||||,T|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|2/9|c.243-30A>T||||||,T|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|2/9|c.36-30A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2060;p3_1000G_AF=0.411342;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=19839;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.4513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111773830;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1325,3081;ESP6500_AA_AGE=427.6+/-341.6;ESP6500_AA_GTC=196,933,1074;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025199.1:936,NM_001025197.1:1143;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=56;ESP6500_EA_AC=3774,4826;ESP6500_EA_AGE=524.1+/-380.5;ESP6500_EA_GTC=840,2094,1366;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:intron,NM_001025199.1:intron,NM_001025197.1:intron;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111231208;ESP6500_GTC=1036,3027,2440;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.273-30A>T,NM_001025199.1:c.36-30A>T,NM_001025197.1:c.243-30A>T;ESP6500_MAF=43.8837,30.0726,39.205;ESP6500_TAC=5099,7907	GT:AD:DP:GQ:PL	0/1:29,19:48:99:428,0,782
chr1	111235565	rs2251715	A	G	697.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=5.711;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=3.63;SOR=1.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2251715;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|5/10|c.481-74A>G||||||,G|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|4/9|c.451-74A>G||||||,G|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|4/9|c.244-74A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1710;p3_1000G_AF=0.341454;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=22350;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111778187;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,26:58:99:726,0,842
chr1	111235619	rs2764544	C	T	2331.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=0.955;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2764544;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|5/10|c.481-20C>T||||||,T|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|4/9|c.451-20C>T||||||,T|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|4/9|c.244-20C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4814;p3_1000G_AF=0.961262;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=22891;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111778241;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3899,507;ESP6500_AA_AGE=233.6+/-246.7;ESP6500_AA_GTC=1727,445,31;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025199.1:936,NM_001025197.1:1143;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=85;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:intron,NM_001025199.1:intron,NM_001025197.1:intron;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111235619;ESP6500_GTC=6023,449,31;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.481-20C>T,NM_001025199.1:c.244-20C>T,NM_001025197.1:c.451-20C>T;ESP6500_MAF=0.0465,11.507,3.929;ESP6500_TAC=12495,511	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2360,225,0
chr1	111236202	rs2251608	T	C	519.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2251608;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|7/10|c.735+49T>C||||||,C|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|6/9|c.705+49T>C||||||,C|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|6/9|c.498+49T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3240;p3_1000G_AF=0.646965;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=15760;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111778824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2471,1933;ESP6500_AA_GTC=686,1099,417;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025199.1:936,NM_001025197.1:1143;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=16;ESP6500_EA_AC=5969,2623;ESP6500_EA_GTC=2095,1779,422;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:intron,NM_001025199.1:intron,NM_001025197.1:intron;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111236202;ESP6500_GTC=2781,2878,839;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.735+49T>C,NM_001025199.1:c.498+49T>C,NM_001025197.1:c.705+49T>C;ESP6500_MAF=30.5284,43.8919,35.0569;ESP6500_TAC=8440,4556	GT:AD:DP:GQ:PL	1/1:0,17:17:51:548,51,0
chr1	111241320	rs56403938	C	T	883.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.952;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.37;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-1.064;SOR=0.39;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56403938;dbSNPBuildID=129;ANN=T|splice_region_variant&intron_variant|LOW|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|8/10|c.919-7C>T||||||,T|splice_region_variant&intron_variant|LOW|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|7/9|c.889-7C>T||||||,T|splice_region_variant&intron_variant|LOW|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|7/9|c.682-7C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=20236;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.0895;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111783942;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=145,4261;ESP6500_AA_AGE=101.2+/-139.8;ESP6500_AA_GTC=1,143,2059;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025199.1:936,NM_001025197.1:1143;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=83;ESP6500_EA_AC=680,7920;ESP6500_EA_AGE=170.4+/-221.6;ESP6500_EA_GTC=31,618,3651;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:intron,NM_001025199.1:intron,NM_001025197.1:intron;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111241320;ESP6500_GTC=32,761,5710;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.919-7C>T,NM_001025199.1:c.682-7C>T,NM_001025197.1:c.889-7C>T;ESP6500_MAF=7.907,3.291,6.3432;ESP6500_TAC=825,12181	GT:AD:DP:GQ:PL	0/1:21,37:58:99:912,0,526
chr1	111241359	rs7542034	G	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.811;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=3.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.252;SOR=0.699;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7542034;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|9/11|c.951G>A|p.Thr317Thr|1022/1470|951/1173|317/390||,A|synonymous_variant|LOW|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|8/10|c.921G>A|p.Thr307Thr|992/1440|921/1143|307/380||,A|synonymous_variant|LOW|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|8/10|c.714G>A|p.Thr238Thr|1052/1500|714/936|238/311||;p3_1000G_AA=G|||;p3_1000G_AC=342;p3_1000G_AF=0.0682907;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=20268;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111783981;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=769,3637;ESP6500_AA_AGE=313.8+/-293.3;ESP6500_AA_GTC=71,627,1505;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025199.1:936,NM_001025197.1:1143;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=90;ESP6500_EA_AC=19,8581;ESP6500_EA_AGE=13.3+/-46.6;ESP6500_EA_GTC=0,19,4281;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:coding-synonymous,NM_001025199.1:coding-synonymous,NM_001025197.1:coding-synonymous;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111241359;ESP6500_GTC=71,646,5786;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.951G>A,NM_001025199.1:c.714G>A,NM_001025197.1:c.921G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004000.2:p.(T317),NM_001025199.1:p.(T238),NM_001025197.1:p.(T307);ESP6500_MAF=0.2209,17.4535,6.0587;ESP6500_TAC=788,12218	GT:AD:DP:GQ:PL	0/1:41,18:59:99:337,0,1142
chr1	111242194	rs11102221	G	A	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.822;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=1.13;SOR=0.343;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11102221;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|9/10|c.1036-33G>A||||||,A|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|8/9|c.1006-33G>A||||||,A|intron_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|8/9|c.799-33G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1400;p3_1000G_AF=0.279553;p3_1000G_AFR_AF=0.3699;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=20916;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.2425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111784816;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1509,2897;ESP6500_AA_AGE=475.0+/-357.2;ESP6500_AA_GTC=247,1015,941;ESP6500_CDS_SIZES=NM_004000.2:1173,NM_001025199.1:936,NM_001025197.1:1143;ESP6500_CG=-0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=76;ESP6500_EA_AC=2277,6323;ESP6500_EA_AGE=381.9+/-340.2;ESP6500_EA_GTC=285,1707,2308;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004000.2:intron,NM_001025199.1:intron,NM_001025197.1:intron;ESP6500_GL=CHI3L2;ESP6500_GRCh38_POSITION=1:111242194;ESP6500_GTC=532,2722,3249;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004000.2:c.1036-33G>A,NM_001025199.1:c.799-33G>A,NM_001025197.1:c.1006-33G>A;ESP6500_MAF=26.4767,34.2488,29.1096;ESP6500_TAC=3786,9220	GT:AD:DP:GQ:PL	0/1:5,11:16:99:301,0,114
chr1	111243308	rs1056825	T	C	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.22;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056825;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_004000.2|protein_coding|11/11|c.*94T>C|||||944|,C|3_prime_UTR_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025197.1|protein_coding|10/10|c.*94T>C|||||944|,C|3_prime_UTR_variant|MODIFIER|CHI3L2|CHI3L2|transcript|NM_001025199.1|protein_coding|10/10|c.*94T>C|||||944|;p3_1000G_AA=T|||;p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=17994;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111785930;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:185,0,287
chr1	111282639	rs4418594	G	A	814.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.947;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.652;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4418594;dbSNPBuildID=111;ANN=A|non_coding_transcript_exon_variant|MODIFIER|CHIAP2|CHIAP2|transcript|NR_003928.2|pseudogene|3/8|n.1024G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2092;p3_1000G_AF=0.417732;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=19826;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.4066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111825261;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,34:67:99:843,0,808
chr1	111283261	rs4406629	T	C	1333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=1.096;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4406629;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CHIAP2|CHIAP2|transcript|NR_003928.2|pseudogene|4/7|n.1247-25T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2203;p3_1000G_AF=0.439896;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=20487;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.4563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111825883;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1362,117,0
chr1	111283385	rs58982671	C	T	545.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.229;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.117;MLEAC=1;MLEAF=0.5;MQ=48.9;MQRankSum=0.081;QD=10.92;ReadPosRankSum=0.081;SOR=0.946;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58982671;dbSNPBuildID=129;ANN=T|non_coding_transcript_exon_variant|MODIFIER|CHIAP2|CHIAP2|transcript|NR_003928.2|pseudogene|5/8|n.1346C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1083;p3_1000G_AF=0.216254;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=18712;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.2783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111826007;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,23:50:99:574,0,720
chr1	111290819	rs11102235	G	A	280.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.52;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11102235;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding||c.-19649G>A|||||33|,A|upstream_gene_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding||c.-26865G>A|||||33|,A|upstream_gene_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding||c.-24461G>A|||||33|,A|upstream_gene_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding||c.-26865G>A|||||33|,A|upstream_gene_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding||c.-24461G>A|||||33|,A|upstream_gene_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding||c.-26865G>A|||||33|,A|upstream_gene_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding||c.-26865G>A|||||33|,A|upstream_gene_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding||c.-24461G>A|||||33|,A|downstream_gene_variant|MODIFIER|CHIAP2|CHIAP2|transcript|NR_003928.2|pseudogene||n.*4711G>A|||||4711|,A|intergenic_region|MODIFIER|CHIAP2-CHIA|CHIAP2-CHIA|intergenic_region|CHIAP2-CHIA|||n.111290819G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2331;p3_1000G_AF=0.465455;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=18264;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.4592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111833441;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:309,33,0
chr1	111290866	rs34698010	C	CCT	360.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=0.892;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34698010;dbSNPBuildID=126;ANN=CCT|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|1/12|c.-151_-150dupTC|||||19598|INFO_REALIGN_3_PRIME,CCT|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|1/10|c.-266_-265dupTC|||||26814|INFO_REALIGN_3_PRIME,CCT|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|1/11|c.-273_-272dupTC|||||24410|INFO_REALIGN_3_PRIME,CCT|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|1/8|c.-143_-142dupTC|||||26814|INFO_REALIGN_3_PRIME,CCT|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|1/10|c.-180_-179dupTC|||||24410|INFO_REALIGN_3_PRIME,CCT|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|1/12|c.-571_-570dupTC|||||26814|INFO_REALIGN_3_PRIME,CCT|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|1/11|c.-405_-404dupTC|||||26814|INFO_REALIGN_3_PRIME,CCT|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|1/9|c.-150_-149dupTC|||||24410|INFO_REALIGN_3_PRIME,CCT|downstream_gene_variant|MODIFIER|CHIAP2|CHIAP2|transcript|NR_003928.2|pseudogene||n.*4758_*4759insCT|||||4759|;p3_1000G_AC=2354;p3_1000G_AF=0.470048;p3_1000G_AFR_AF=0.2398;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=17956;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111833488;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:27:398,27,0
chr1	111290895	rs12026825	G	A	216.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.1;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12026825;dbSNPBuildID=120;ANN=A|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|1/12|c.-124G>A|||||19573|,A|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|1/10|c.-239G>A|||||26789|,A|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|1/11|c.-246G>A|||||24385|,A|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|1/8|c.-116G>A|||||26789|,A|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|1/10|c.-153G>A|||||24385|,A|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|1/12|c.-544G>A|||||26789|,A|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|1/11|c.-378G>A|||||26789|,A|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|1/9|c.-123G>A|||||24385|,A|downstream_gene_variant|MODIFIER|CHIAP2|CHIAP2|transcript|NR_003928.2|pseudogene||n.*4787G>A|||||4787|;p3_1000G_AA=G|||;p3_1000G_AC=2331;p3_1000G_AF=0.465455;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=18121;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.4592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111833517;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:245,24,0
chr1	111291039	rs4838897	T	C	57.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4838897;dbSNPBuildID=111;ANN=C|downstream_gene_variant|MODIFIER|CHIAP2|CHIAP2|transcript|NR_003928.2|pseudogene||n.*4931T>C|||||4931|,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|1/11|c.-69+89T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|1/9|c.-184+89T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|1/10|c.-191+89T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|1/7|c.-61+89T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|1/9|c.-98+89T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|1/11|c.-489+89T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|1/10|c.-323+89T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|1/8|c.-68+89T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4247;p3_1000G_AF=0.848043;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=22088;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.7555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111833661;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:85,6,0
chr1	111311585	rs4839122	T	C	1646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4839122;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|2/11|c.26-104T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|2/9|c.-90-104T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|2/10|c.-97-104T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|1/7|c.-60-2955T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|1/9|c.-97-104T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|2/11|c.-395-104T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|2/10|c.-229-104T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|1/8|c.-67-2955T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3439;p3_1000G_AF=0.686701;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=22539;p3_1000G_EAS_AF=0.8442;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111854207;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1675,138,0
chr1	111311601	rs6537695	C	T	1798.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=1.692;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6537695;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|2/11|c.26-88C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|2/9|c.-90-88C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|2/10|c.-97-88C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|1/7|c.-60-2939C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|1/9|c.-97-88C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|2/11|c.-395-88C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|2/10|c.-229-88C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|1/8|c.-67-2939C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2894;p3_1000G_AF=0.577875;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=22047;p3_1000G_EAS_AF=0.8442;p3_1000G_EUR_AF=0.5736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111854223;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1827,171,0
chr1	111312133	rs4423003	A	C	591.8	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.955;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.15;ReadPosRankSum=0.996;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4423003;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|3/11|c.56-57A>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|3/9|c.-61+415A>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|3/10|c.-68+415A>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|1/7|c.-60-2407A>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|2/9|c.-68+415A>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|3/11|c.-366+415A>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|3/10|c.-200+415A>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|1/8|c.-67-2407A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4798;p3_1000G_AF=0.958067;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=21139;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111854755;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,18:19:21:620,21,0
chr1	111314465	rs2786151	C	T	60.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.512;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.57;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2786151;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|4/11|c.258-75C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|3/9|c.-60-75C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|3/10|c.-67-75C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|1/7|c.-60-75C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|2/9|c.-67-75C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|3/11|c.-365-75C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|3/10|c.-199-75C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|1/8|c.-67-75C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2785;p3_1000G_AF=0.55611;p3_1000G_AFR_AF=0.6649;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=16735;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.5557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111857087;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,5:16:89:89,0,376
chr1	111314532	rs2786152	T	C	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.698;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=-1.678;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2786152;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_201653.3|protein_coding|4/11|c.258-8T>C||||||,C|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|3/9|c.-60-8T>C||||||,C|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|3/10|c.-67-8T>C||||||,C|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|1/7|c.-60-8T>C||||||,C|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|2/9|c.-67-8T>C||||||,C|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|3/11|c.-365-8T>C||||||,C|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|3/10|c.-199-8T>C||||||,C|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_021797.3|protein_coding|1/8|c.-67-8T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3284;p3_1000G_AF=0.655751;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=17002;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.7097;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111857154;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2826,866;ESP6500_AA_GTC=1074,678,94;ESP6500_CDS_SIZES=NM_201653.3:1431,NM_021797.3:1107,NM_001258005.1:948,NM_001258004.1:948,NM_001258003.1:1107,NM_001258002.1:948,NM_001258001.1:1107,NM_001040623.2:948;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=118;ESP6500_EA_AC=5714,2474;ESP6500_EA_GTC=1981,1752,361;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201653.3:intron,NM_021797.3:intron,NM_001258005.1:intron,NM_001258004.1:intron,NM_001258003.1:intron,NM_001258002.1:intron,NM_001258001.1:intron,NM_001040623.2:intron;ESP6500_GL=CHIA;ESP6500_GRCh38_POSITION=1:111314532;ESP6500_GTC=3055,2430,455;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201653.3:c.258-8T>C,NM_021797.3:c.-748T>C,NM_001258005.1:c.-3152T>C,NM_001258004.1:c.-3152T>C,NM_001258003.1:c.-748T>C,NM_001258002.1:c.-3152T>C,NM_001258001.1:c.-748T>C,NM_001040623.2:c.-3152T>C;ESP6500_MAF=30.2149,23.4561,28.1145;ESP6500_TAC=8540,3340	GT:AD:DP:GQ:PL	0/1:16,10:26:99:241,0,427
chr1	111315669	rs2786155	T	C	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.097;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.66;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2786155;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|6/11|c.480+234T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|4/9|c.-4+1073T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|5/10|c.156+234T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|2/7|c.-4+1073T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|4/9|c.156+234T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|5/11|c.-142-65T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|4/10|c.-142-65T>C||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|3/8|c.156+234T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2275;p3_1000G_AF=0.454273;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=21962;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111858291;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:57:57,0,284
chr1	111315822	rs2786156	C	T	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.067;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-1.394;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2786156;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|6/12|c.-54C>T|||||1862|,T|5_prime_UTR_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|5/11|c.-54C>T|||||1862|,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|6/11|c.480+387C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|4/9|c.-4+1226C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|5/10|c.156+387C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|2/7|c.-4+1226C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|4/9|c.156+387C>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|3/8|c.156+387C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3687;p3_1000G_AF=0.736222;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=21444;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.7545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111858444;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,10:35:99:196,0,637
chr1	111315877	rs6661725	A	G	54.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.17;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6661725;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|6/11|c.-4+5A>G||||||,G|splice_region_variant&intron_variant|LOW|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|5/10|c.-4+5A>G||||||,G|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|6/11|c.480+442A>G||||||,G|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|4/9|c.-4+1281A>G||||||,G|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|5/10|c.156+442A>G||||||,G|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|2/7|c.-4+1281A>G||||||,G|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|4/9|c.156+442A>G||||||,G|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|3/8|c.156+442A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2794;p3_1000G_AF=0.557907;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=20568;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.5567;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111858499;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,5:28:83:83,0,598
chr1	111315903	rs371155945	TAAATATAAGAATAAGA	T	118.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.6;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=1.38;SOR=1.034;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs371155945;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|6/11|c.480+469_480+484delAAATATAAGAATAAGA||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|4/9|c.-4+1308_-4+1323delAAATATAAGAATAAGA||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|5/10|c.156+469_156+484delAAATATAAGAATAAGA||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|2/7|c.-4+1308_-4+1323delAAATATAAGAATAAGA||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|4/9|c.156+469_156+484delAAATATAAGAATAAGA||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|6/11|c.-4+32_-4+47delAAATATAAGAATAAGA||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|5/10|c.-4+32_-4+47delAAATATAAGAATAAGA||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|3/8|c.156+469_156+484delAAATATAAGAATAAGA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,5:23:99:0|1:111315903_TAAATATAAGAATAAGA_T:156,0,741
chr1	111315920	rs376128132	CACTATCCTTGGCTT	C	139.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.177;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=-0.057;SOR=0.804;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs376128132;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|6/11|c.480+486_480+499delACTATCCTTGGCTT||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|4/9|c.-4+1325_-4+1338delACTATCCTTGGCTT||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|5/10|c.156+486_156+499delACTATCCTTGGCTT||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|2/7|c.-4+1325_-4+1338delACTATCCTTGGCTT||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|4/9|c.156+486_156+499delACTATCCTTGGCTT||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|6/11|c.-4+49_-4+62delACTATCCTTGGCTT||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|5/10|c.-4+49_-4+62delACTATCCTTGGCTT||||||,C|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|3/8|c.156+486_156+499delACTATCCTTGGCTT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,5:16:99:0|1:111315903_TAAATATAAGAATAAGA_T:177,0,447
chr1	111315967	rs2786157	G	T	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.057;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-1.94;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2786157;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|6/11|c.480+532G>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|4/9|c.-4+1371G>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|5/10|c.156+532G>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|2/7|c.-4+1371G>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|4/9|c.156+532G>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|6/11|c.-4+95G>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|5/10|c.-4+95G>T||||||,T|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|3/8|c.156+532G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2251;p3_1000G_AF=0.449481;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=23556;p3_1000G_EAS_AF=0.4494;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111858589;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:117,0,190
chr1	111319092	rs2786161	T	A	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.996;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.559;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.031;SOR=0.128;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2786161;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_201653.3|protein_coding|9/11|c.916-28T>A||||||,A|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|7/9|c.433-28T>A||||||,A|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|8/10|c.592-28T>A||||||,A|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|5/7|c.433-28T>A||||||,A|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|7/9|c.592-28T>A||||||,A|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|9/11|c.433-28T>A||||||,A|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|8/10|c.433-28T>A||||||,A|intron_variant|MODIFIER|CHIA|CHIA|transcript|NM_021797.3|protein_coding|6/8|c.592-28T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3123;p3_1000G_AF=0.623602;p3_1000G_AFR_AF=0.6929;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=18587;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.6948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111861714;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2977,1427;ESP6500_AA_AGE=421.3+/-339.3;ESP6500_AA_GTC=1005,967,230;ESP6500_CDS_SIZES=NM_201653.3:1431,NM_021797.3:1107,NM_001258005.1:948,NM_001258004.1:948,NM_001258003.1:1107,NM_001258002.1:948,NM_001258001.1:1107,NM_001040623.2:948;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=5892,2708;ESP6500_EA_AGE=423.1+/-354.3;ESP6500_EA_GTC=2018,1856,426;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201653.3:intron,NM_021797.3:intron,NM_001258005.1:intron,NM_001258004.1:intron,NM_001258003.1:intron,NM_001258002.1:intron,NM_001258001.1:intron,NM_001040623.2:intron;ESP6500_GL=CHIA;ESP6500_GRCh38_POSITION=1:111319092;ESP6500_GTC=3023,2823,656;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_201653.3:c.916-28T>A,NM_021797.3:c.592-28T>A,NM_001258005.1:c.433-28T>A,NM_001258004.1:c.433-28T>A,NM_001258003.1:c.592-28T>A,NM_001258002.1:c.433-28T>A,NM_001258001.1:c.592-28T>A,NM_001040623.2:c.433-28T>A;ESP6500_MAF=31.4884,32.4024,31.7979;ESP6500_TAC=8869,4135	GT:AD:DP:GQ:PL	0/1:14,11:25:99:301,0,384
chr1	111319219	rs2275253	A	G	474.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.113;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.695;SOR=0.586;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275253;dbSNPBuildID=100;ANN=G|structural_interaction_variant|HIGH|CHIA|CHIA|interaction|2YBU:F_339-F_374:NM_201653.3|protein_coding|10/12|c.1015A>G||||||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_201653.3|protein_coding|10/12|c.1015A>G|p.Ile339Val|1182/1698|1015/1431|339/476||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|8/10|c.532A>G|p.Ile178Val|814/1330|532/948|178/315||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|9/11|c.691A>G|p.Ile231Val|980/1496|691/1107|231/368||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|6/8|c.532A>G|p.Ile178Val|691/1207|532/948|178/315||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|8/10|c.691A>G|p.Ile231Val|887/1403|691/1107|231/368||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|10/12|c.532A>G|p.Ile178Val|1119/1635|532/948|178/315||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|9/11|c.532A>G|p.Ile178Val|953/1469|532/948|178/315||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_021797.3|protein_coding|7/9|c.691A>G|p.Ile231Val|857/1373|691/1107|231/368||,G|sequence_feature|LOW|CHIA|CHIA|helix:combinatorial_evidence_used_in_manual_assertion|NM_201653.3|protein_coding|10/12|c.1015A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3301;p3_1000G_AF=0.659145;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=19240;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.7107;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111861841;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3404,1002;ESP6500_AA_AGE=373.7+/-320.9;ESP6500_AA_GTC=1306,792,105;ESP6500_CDS_SIZES=NM_201653.3:1431,NM_021797.3:1107,NM_001258005.1:948,NM_001258004.1:948,NM_001258003.1:1107,NM_001258002.1:948,NM_001258001.1:1107,NM_001040623.2:948;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=137;ESP6500_EA_AC=5991,2609;ESP6500_EA_AGE=423.7+/-354.4;ESP6500_EA_GTC=2072,1847,381;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201653.3:missense,NM_021797.3:missense,NM_001258005.1:missense,NM_001258004.1:missense,NM_001258003.1:missense,NM_001258002.1:missense,NM_001258001.1:missense,NM_001040623.2:missense;ESP6500_GL=CHIA;ESP6500_GRCh38_POSITION=1:111319219;ESP6500_GS=29,29,29,29,29,29,29,29;ESP6500_GTC=3378,2639,486;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_201653.3:c.1015A>G,NM_021797.3:c.691A>G,NM_001258005.1:c.532A>G,NM_001258004.1:c.532A>G,NM_001258003.1:c.691A>G,NM_001258002.1:c.532A>G,NM_001258001.1:c.691A>G,NM_001040623.2:c.532A>G;ESP6500_HGVS_PROTEIN_VAR=NM_201653.3:p.(I339V),NM_021797.3:p.(I231V),NM_001258005.1:p.(I178V),NM_001258004.1:p.(I178V),NM_001258003.1:p.(I231V),NM_001258002.1:p.(I178V),NM_001258001.1:p.(I231V),NM_001040623.2:p.(I178V);ESP6500_MAF=30.3372,22.7417,27.7641;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=9395,3611	GT:AD:DP:GQ:PL	0/1:18,21:39:99:503,0,416
chr1	111319352	rs2275254	T	C	747.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=-0.605;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275254;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_201653.3|protein_coding|11/12|c.1061T>C|p.Phe354Ser|1228/1698|1061/1431|354/476||,C|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|9/10|c.578T>C|p.Phe193Ser|860/1330|578/948|193/315||,C|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|10/11|c.737T>C|p.Phe246Ser|1026/1496|737/1107|246/368||,C|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|7/8|c.578T>C|p.Phe193Ser|737/1207|578/948|193/315||,C|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|9/10|c.737T>C|p.Phe246Ser|933/1403|737/1107|246/368||,C|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|11/12|c.578T>C|p.Phe193Ser|1165/1635|578/948|193/315||,C|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|10/11|c.578T>C|p.Phe193Ser|999/1469|578/948|193/315||,C|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_021797.3|protein_coding|8/9|c.737T>C|p.Phe246Ser|903/1373|737/1107|246/368||;p3_1000G_AA=T|||;p3_1000G_AC=2215;p3_1000G_AF=0.442292;p3_1000G_AFR_AF=0.3154;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=19337;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.5954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111861974;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1541,2865;ESP6500_AA_AGE=484.0+/-359.9;ESP6500_AA_GTC=262,1017,924;ESP6500_CDS_SIZES=NM_201653.3:1431,NM_021797.3:1107,NM_001258005.1:948,NM_001258004.1:948,NM_001258003.1:1107,NM_001258002.1:948,NM_001258001.1:1107,NM_001040623.2:948;ESP6500_CG=3.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=4956,3644;ESP6500_EA_AGE=623.4+/-397.5;ESP6500_EA_GTC=1446,2064,790;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201653.3:missense,NM_021797.3:missense,NM_001258005.1:missense,NM_001258004.1:missense,NM_001258003.1:missense,NM_001258002.1:missense,NM_001258001.1:missense,NM_001040623.2:missense;ESP6500_GL=CHIA;ESP6500_GRCh38_POSITION=1:111319352;ESP6500_GS=155,155,155,155,155,155,155,155;ESP6500_GTC=1708,3081,1714;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201653.3:c.1061T>C,NM_021797.3:c.737T>C,NM_001258005.1:c.578T>C,NM_001258004.1:c.578T>C,NM_001258003.1:c.737T>C,NM_001258002.1:c.578T>C,NM_001258001.1:c.737T>C,NM_001040623.2:c.578T>C;ESP6500_HGVS_PROTEIN_VAR=NM_201653.3:p.(F354S),NM_021797.3:p.(F246S),NM_001258005.1:p.(F193S),NM_001258004.1:p.(F193S),NM_001258003.1:p.(F246S),NM_001258002.1:p.(F193S),NM_001258001.1:p.(F246S),NM_001040623.2:p.(F193S);ESP6500_MAF=42.3721,34.975,49.9539;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=6497,6509	GT:AD:DP:GQ:PL	0/1:12,25:37:99:776,0,236
chr1	111320330	rs2256721	T	G	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.99;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.861;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.78;SOR=0.553;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2256721;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_201653.3|protein_coding|12/12|c.1295T>G|p.Val432Gly|1462/1698|1295/1431|432/476||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001040623.2|protein_coding|10/10|c.812T>G|p.Val271Gly|1094/1330|812/948|271/315||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258001.1|protein_coding|11/11|c.971T>G|p.Val324Gly|1260/1496|971/1107|324/368||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258002.1|protein_coding|8/8|c.812T>G|p.Val271Gly|971/1207|812/948|271/315||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258003.1|protein_coding|10/10|c.971T>G|p.Val324Gly|1167/1403|971/1107|324/368||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258004.1|protein_coding|12/12|c.812T>G|p.Val271Gly|1399/1635|812/948|271/315||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_001258005.1|protein_coding|11/11|c.812T>G|p.Val271Gly|1233/1469|812/948|271/315||,G|missense_variant|MODERATE|CHIA|CHIA|transcript|NM_021797.3|protein_coding|9/9|c.971T>G|p.Val324Gly|1137/1373|971/1107|324/368||;p3_1000G_AA=G|||;p3_1000G_AC=3292;p3_1000G_AF=0.657348;p3_1000G_AFR_AF=0.7897;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=18633;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.7097;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111862952;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3382,1024;ESP6500_AA_AGE=378.7+/-323.0;ESP6500_AA_GTC=1284,814,105;ESP6500_CDS_SIZES=NM_201653.3:1431,NM_021797.3:1107,NM_001258005.1:948,NM_001258004.1:948,NM_001258003.1:1107,NM_001258002.1:948,NM_001258001.1:1107,NM_001040623.2:948;ESP6500_CG=1.5;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=5991,2609;ESP6500_EA_AGE=423.4+/-354.3;ESP6500_EA_GTC=2072,1847,381;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201653.3:missense,NM_021797.3:missense,NM_001258005.1:missense,NM_001258004.1:missense,NM_001258003.1:missense,NM_001258002.1:missense,NM_001258001.1:missense,NM_001040623.2:missense;ESP6500_GL=CHIA;ESP6500_GRCh38_POSITION=1:111320330;ESP6500_GS=109,109,109,109,109,109,109,109;ESP6500_GTC=3356,2661,486;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_201653.3:c.1295T>G,NM_021797.3:c.971T>G,NM_001258005.1:c.812T>G,NM_001258004.1:c.812T>G,NM_001258003.1:c.971T>G,NM_001258002.1:c.812T>G,NM_001258001.1:c.971T>G,NM_001040623.2:c.812T>G;ESP6500_HGVS_PROTEIN_VAR=NM_201653.3:p.(V432G),NM_021797.3:p.(V324G),NM_001258005.1:p.(V271G),NM_001258004.1:p.(V271G),NM_001258003.1:p.(V324G),NM_001258002.1:p.(V271G),NM_001258001.1:p.(V324G),NM_001040623.2:p.(V271G);ESP6500_MAF=30.3372,23.241,27.9333;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=9373,3633	GT:AD:DP:GQ:PL	0/1:25,15:40:99:414,0,691
chr1	111347618	rs142260201	C	CTT	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-1.645;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs142260201;dbSNPBuildID=134;ANN=CTT|intron_variant|MODIFIER|PIFO|PIFO|transcript|NM_181643.5|protein_coding|2/5|c.160-54_160-53dupTT||||||INFO_REALIGN_3_PRIME,CTT|intron_variant|MODIFIER|PIFO|PIFO|transcript|NM_001300831.1|protein_coding|2/4|c.159+571_159+572dupTT||||||INFO_REALIGN_3_PRIME,CTT|intron_variant|MODIFIER|PIFO|PIFO|transcript|NR_125338.1|pseudogene|2/3|n.252+571_252+572dupTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:111347618_C_CTT:75,0,148
chr1	111347622	rs3738305	C	T	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.645;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738305;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PIFO|PIFO|transcript|NM_181643.5|protein_coding|2/5|c.160-52C>T||||||,T|intron_variant|MODIFIER|PIFO|PIFO|transcript|NM_001300831.1|protein_coding|2/4|c.159+573C>T||||||,T|intron_variant|MODIFIER|PIFO|PIFO|transcript|NR_125338.1|pseudogene|2/3|n.252+573C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2767;p3_1000G_AF=0.552516;p3_1000G_AFR_AF=0.7088;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=19860;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111890244;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:111347618_C_CTT:75,0,148
chr1	111351166	rs371457544	GTTTTT	G	172.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.8;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs371457544;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|PIFO|PIFO|transcript|NM_181643.5|protein_coding|5/5|c.508-77_508-73delTTTTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PIFO|PIFO|transcript|NM_001300831.1|protein_coding|4/4|c.409-77_409-73delTTTTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PIFO|PIFO|transcript|NR_125338.1|pseudogene|3/3|n.371-77_371-73delTTTTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1872;p3_1000G_AF=0.373802;p3_1000G_AFR_AF=0.3464;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=18779;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111893788;p3_1000G_GRCH37_REF=GTTTTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:9:157,9,0
chr1	111351336	rs1668	A	G	375.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.034;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=0.593;SOR=0.947;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1668;dbSNPBuildID=36;ANN=G|3_prime_UTR_variant|MODIFIER|PIFO|PIFO|transcript|NM_181643.5|protein_coding|6/6|c.*9A>G|||||9|,G|3_prime_UTR_variant|MODIFIER|PIFO|PIFO|transcript|NM_001300831.1|protein_coding|5/5|c.*9A>G|||||9|,G|non_coding_transcript_exon_variant|MODIFIER|PIFO|PIFO|transcript|NR_125338.1|pseudogene|4/4|n.448A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1477;p3_1000G_AF=0.294928;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=18454;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.2863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111893958;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1194,3212;ESP6500_AA_AGE=710.0+/-407.8;ESP6500_AA_GTC=148,898,1157;ESP6500_CDS_SIZES=NM_181643.4:576;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=100;ESP6500_EA_AC=2541,6059;ESP6500_EA_AGE=692.6+/-404.6;ESP6500_EA_GTC=380,1781,2139;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181643.4:utr-3;ESP6500_GL=C1orf88;ESP6500_GRCh38_POSITION=1:111351336;ESP6500_GTC=528,2679,3296;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181643.4:c.*9A>G;ESP6500_MAF=29.5465,27.0994,28.7175;ESP6500_TAC=3735,9271	GT:AD:DP:GQ:PGT:PID:PL	0/1:34,19:53:99:0|1:111351336_A_G:404,0,870
chr1	111414475	rs7825	C	G	1086.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.43;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7825;dbSNPBuildID=52;ANN=G|missense_variant|MODERATE|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|11/11|c.2026G>C|p.Glu676Gln|2082/2242|2026/2037|676/678||;p3_1000G_AA=G|||;p3_1000G_AC=3117;p3_1000G_AF=0.622404;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=17926;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.4364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111957097;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3025,1379;ESP6500_AA_AGE=445.5+/-347.7;ESP6500_AA_GTC=1031,963,208;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=70;ESP6500_EA_AC=3798,4802;ESP6500_EA_AGE=607.5+/-395.3;ESP6500_EA_GTC=841,2116,1343;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002557.3:missense;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111414475;ESP6500_GS=29;ESP6500_GTC=1872,3079,1551;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.2026G>C;ESP6500_HGVS_PROTEIN_VAR=NM_002557.3:p.(E676Q);ESP6500_MAF=44.1628,31.3124,47.5315;ESP6500_PH=benign:0.0;ESP6500_TAC=6823,6181	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1115,93,0
chr1	111414689	rs10067	G	C	943.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.587;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10067;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|11/11|c.1812C>G|p.His604Gln|1868/2242|1812/2037|604/678||;p3_1000G_AA=G|||;p3_1000G_AC=1477;p3_1000G_AF=0.294928;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=18670;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.1103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111957311;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1700,2706;ESP6500_AA_AGE=512.9+/-368.2;ESP6500_AA_GTC=328,1044,831;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=78;ESP6500_EA_AC=709,7891;ESP6500_EA_AGE=174.6+/-224.8;ESP6500_EA_GTC=31,647,3622;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002557.3:missense;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111414689;ESP6500_GS=24;ESP6500_GTC=359,1691,4453;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.1812C>G;ESP6500_HGVS_PROTEIN_VAR=NM_002557.3:p.(H604Q);ESP6500_MAF=8.2442,38.5837,18.5222;ESP6500_PH=benign:0.005;ESP6500_TAC=2409,10597	GT:AD:DP:GQ:PL	0/1:41,34:75:99:972,0,1229
chr1	111415066	rs3767607	T	C	676.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.205;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=3.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.801;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767607;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|11/11|c.1435A>G|p.Met479Val|1491/2242|1435/2037|479/678||;p3_1000G_AA=t|||;p3_1000G_AC=680;p3_1000G_AF=0.135783;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=20189;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.0666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111957688;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=547,3859;ESP6500_AA_AGE=245.9+/-254.7;ESP6500_AA_GTC=34,479,1690;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=110;ESP6500_EA_AC=560,8040;ESP6500_EA_AGE=152.1+/-206.7;ESP6500_EA_GTC=21,518,3761;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002557.3:missense;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111415066;ESP6500_GS=21;ESP6500_GTC=55,997,5451;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.1435A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002557.3:p.(M479V);ESP6500_MAF=6.5116,12.4149,8.5115;ESP6500_PH=benign:0.144;ESP6500_TAC=1107,11899	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,29:66:99:0|1:111415066_T_C:705,0,982
chr1	111415071	rs2485319	A	G	2556.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2485319;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|11/11|c.1430T>C|p.Met477Thr|1486/2242|1430/2037|477/678||;p3_1000G_AA=g|||;p3_1000G_AC=3164;p3_1000G_AF=0.631789;p3_1000G_AFR_AF=0.7572;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=19965;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.4364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111957693;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3118,1288;ESP6500_AA_AGE=438.2+/-345.2;ESP6500_AA_GTC=1098,922,183;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=3799,4801;ESP6500_EA_AGE=613.6+/-396.1;ESP6500_EA_GTC=838,2123,1339;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002557.3:missense;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111415071;ESP6500_GS=81;ESP6500_GTC=1936,3045,1522;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.1430T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002557.3:p.(M477T);ESP6500_MAF=44.1744,29.2329,46.8169;ESP6500_PH=benign:0.0;ESP6500_TAC=6917,6089	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,68:68:99:1|1:111415066_T_C:2585,204,0
chr1	111416225	rs76261890	A	T	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-0.411;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76261890;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|10/10|c.1156+98T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=393;p3_1000G_AF=0.0784744;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=19671;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111958847;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:162,0,254
chr1	111416263	rs10489791	C	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.862;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.632;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10489791;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|10/10|c.1156+60G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=823;p3_1000G_AF=0.164337;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=20295;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.0517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111958885;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:328,0,451
chr1	111419587	rs1419092	G	A	481.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.353;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.56;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.882;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1419092;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|9/10|c.1020+23C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=823;p3_1000G_AF=0.164337;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=20409;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.0517;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111962209;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1164,3242;ESP6500_AA_AGE=411.9+/-335.9;ESP6500_AA_GTC=142,880,1181;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=240;ESP6500_EA_AC=463,8137;ESP6500_EA_AGE=137.1+/-194.1;ESP6500_EA_GTC=15,433,3852;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002557.3:intron;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111419587;ESP6500_GTC=157,1313,5033;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.1020+23C>T;ESP6500_MAF=5.3837,26.4185,12.5096;ESP6500_TAC=1627,11379	GT:AD:DP:GQ:PL	0/1:14,19:33:99:510,0,384
chr1	111419634	rs17027633	G	T	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.464;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.988;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17027633;dbSNPBuildID=123;ANN=T|missense_variant|MODERATE|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|9/11|c.996C>A|p.Asp332Glu|1052/2242|996/2037|332/678||;p3_1000G_AA=G|||;p3_1000G_AC=393;p3_1000G_AF=0.0784744;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=20735;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.0467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111962256;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=80,4326;ESP6500_AA_AGE=70.9+/-108.8;ESP6500_AA_GTC=2,76,2125;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=2.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=229;ESP6500_EA_AC=453,8147;ESP6500_EA_AGE=135.7+/-192.9;ESP6500_EA_GTC=14,425,3861;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002557.3:missense;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111419634;ESP6500_GS=45;ESP6500_GTC=16,501,5986;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.996C>A;ESP6500_HGVS_PROTEIN_VAR=NM_002557.3:p.(D332E);ESP6500_MAF=5.2674,1.8157,4.0981;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=533,12473	GT:AD:DP:GQ:PL	0/1:28,23:51:99:620,0,670
chr1	111419833	rs1264881	C	T	245.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.949;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.799;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1264881;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|8/10|c.904-107G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2319;p3_1000G_AF=0.463059;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=20992;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.3837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111962455;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:274,0,266
chr1	111421522	rs1264885	G	C	1065.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.965;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=2.321;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=0.105;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1264885;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|7/10|c.717+43C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1133;p3_1000G_AF=0.226238;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=20545;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111964144;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=650,3756;ESP6500_AA_AGE=278.4+/-274.2;ESP6500_AA_GTC=75,500,1628;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=64;ESP6500_EA_AC=1041,7559;ESP6500_EA_AGE=220.9+/-258.5;ESP6500_EA_GTC=64,913,3323;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002557.3:intron;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111421522;ESP6500_GTC=139,1413,4951;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.717+43C>G;ESP6500_MAF=12.1047,14.7526,13.0017;ESP6500_TAC=1691,11315	GT:AD:DP:GQ:PL	0/1:22,39:61:99:1094,0,615
chr1	111421640	rs2275794	G	A	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.602;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.44;ReadPosRankSum=0.981;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275794;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|7/11|c.642C>T|p.Asp214Asp|698/2242|642/2037|214/678||;p3_1000G_AA=G|||;p3_1000G_AC=395;p3_1000G_AF=0.0788738;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=21461;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.0467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111964262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=80,4326;ESP6500_AA_AGE=70.9+/-108.8;ESP6500_AA_GTC=2,76,2125;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=92;ESP6500_EA_AC=454,8146;ESP6500_EA_AGE=135.9+/-193.0;ESP6500_EA_GTC=14,426,3860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002557.3:coding-synonymous;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111421640;ESP6500_GTC=16,502,5985;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.642C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002557.3:p.(D214);ESP6500_MAF=5.2791,1.8157,4.1058;ESP6500_TAC=534,12472	GT:AD:DP:GQ:PL	0/1:22,9:31:99:259,0,714
chr1	111425499	rs1264887	C	T	635.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.545;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=3.151;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.36;SOR=1.545;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1264887;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|3/10|c.261-60G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1318;p3_1000G_AF=0.263179;p3_1000G_AFR_AF=0.3215;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=20602;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111968121;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=397,987;ESP6500_AA_GTC=65,267,360;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=74;ESP6500_EA_AC=267,2915;ESP6500_EA_GTC=11,245,1335;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002557.3:intron;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111425499;ESP6500_GTC=76,512,1695;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.261-60G>A;ESP6500_MAF=8.3909,28.685,14.5423;ESP6500_TAC=664,3902	GT:AD:DP:GQ:PL	0/1:21,21:42:99:664,0,539
chr1	111426672	rs1264892	A	G	456.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1264892;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|2/10|c.56-31T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2991;p3_1000G_AF=0.597244;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=19895;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111969294;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3071,1335;ESP6500_AA_AGE=428.7+/-342.0;ESP6500_AA_GTC=1072,927,204;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=1.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=33;ESP6500_EA_AC=3448,5152;ESP6500_EA_AGE=608.4+/-395.4;ESP6500_EA_GTC=697,2054,1549;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002557.3:intron;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111426672;ESP6500_GTC=1769,2981,1753;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.56-31T>C;ESP6500_MAF=40.093,30.2996,49.877;ESP6500_TAC=6519,6487	GT:AD:DP:GQ:PL	1/1:0,14:14:42:485,42,0
chr1	111426685	rs2275795	G	C	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=-0.534;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275795;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|2/10|c.56-44C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1388;p3_1000G_AF=0.277157;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=20104;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.2853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111969307;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1045,3361;ESP6500_AA_GTC=125,795,1283;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=2707,5893;ESP6500_EA_GTC=430,1847,2023;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002557.3:intron;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111426685;ESP6500_GTC=555,2642,3306;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.56-44C>G;ESP6500_MAF=31.4767,23.7177,28.8482;ESP6500_TAC=3752,9254	GT:AD:DP:GQ:PL	0/1:11,2:13:40:40,0,313
chr1	111427097	rs1264894	A	G	1417.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=0.883;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1264894;dbSNPBuildID=87;ANN=G|splice_region_variant&intron_variant|LOW|OVGP1|OVGP1|transcript|NM_002557.3|protein_coding|1/10|c.26-6T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2912;p3_1000G_AF=0.58147;p3_1000G_AFR_AF=0.7035;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=21222;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.3986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111969719;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2886,1520;ESP6500_AA_AGE=483.0+/-359.6;ESP6500_AA_GTC=939,1008,256;ESP6500_CDS_SIZES=NM_002557.3:2037;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=77;ESP6500_EA_AC=3453,5147;ESP6500_EA_AGE=636.3+/-399.1;ESP6500_EA_GTC=697,2059,1544;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002557.3:intron;ESP6500_GL=OVGP1;ESP6500_GRCh38_POSITION=1:111427097;ESP6500_GTC=1636,3067,1800;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002557.3:c.26-6T>C;ESP6500_MAF=40.1512,34.4984,48.739;ESP6500_TAC=6339,6667	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1446,132,0
chr1	111442607	rs1264902	G	T	834.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1264902;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317062.1|protein_coding|8/9|c.800+46C>A||||||,T|intron_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317063.1|protein_coding|8/9|c.800+46C>A||||||,T|intron_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317064.1|protein_coding|6/7|c.608+46C>A||||||,T|intron_variant|MODIFIER|WDR77|WDR77|transcript|NM_024102.3|protein_coding|8/9|c.800+46C>A||||||,T|intron_variant|MODIFIER|WDR77|WDR77|transcript|NR_133654.1|pseudogene|7/8|n.797+46C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2909;p3_1000G_AF=0.580871;p3_1000G_AFR_AF=0.7035;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=21948;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111985229;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2879,1527;ESP6500_AA_GTC=937,1005,261;ESP6500_CDS_SIZES=NM_024102.2:1029;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=33;ESP6500_EA_AC=3450,5148;ESP6500_EA_GTC=701,2048,1550;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024102.2:intron;ESP6500_GL=WDR77;ESP6500_GRCh38_POSITION=1:111442607;ESP6500_GTC=1638,3053,1811;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_024102.2:c.800+46C>A;ESP6500_MAF=40.1256,34.6573,48.6696;ESP6500_TAC=6329,6675	GT:AD:DP:GQ:PL	1/1:0,25:25:75:863,75,0
chr1	111449146	rs11548427	G	A	430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.733;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.907;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11548427;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|WDR77|WDR77|transcript|NM_001317062.1|protein_coding|1/10|c.24C>T|p.Pro8Pro|163/2544|24/1065|8/354||,A|synonymous_variant|LOW|WDR77|WDR77|transcript|NM_001317063.1|protein_coding|1/10|c.24C>T|p.Pro8Pro|163/2502|24/1023|8/340||,A|synonymous_variant|LOW|WDR77|WDR77|transcript|NM_001317064.1|protein_coding|1/8|c.24C>T|p.Pro8Pro|163/2316|24/837|8/278||,A|synonymous_variant|LOW|WDR77|WDR77|transcript|NM_024102.3|protein_coding|1/10|c.24C>T|p.Pro8Pro|163/2508|24/1029|8/342||,A|5_prime_UTR_variant|MODIFIER|ATP5F1|ATP5F1|transcript|NM_001688.4|protein_coding|1/7|c.-396G>A|||||396|,A|non_coding_transcript_exon_variant|MODIFIER|WDR77|WDR77|transcript|NR_133654.1|pseudogene|1/9|n.163C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=391;p3_1000G_AF=0.0780751;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=10618;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.0457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111991768;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=35,3415;ESP6500_AA_GTC=0,35,1690;ESP6500_CDS_SIZES=NM_024102.2:1029,NM_001688.4:771;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=6;ESP6500_EA_AC=302,7070;ESP6500_EA_GTC=7,288,3391;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024102.2:coding-synonymous,NM_001688.4:utr-5;ESP6500_GL=ATP5F1,WDR77;ESP6500_GRCh38_POSITION=1:111449146;ESP6500_GTC=7,323,5081;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024102.2:c.24C>T,NM_001688.4:c.-396G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024102.2:p.(P8),.;ESP6500_MAF=4.0966,1.0145,3.114;ESP6500_TAC=337,10485	GT:AD:DP:GQ:PL	0/1:18,19:37:99:459,0,382
chr1	111449223	rs1270853	C	A	455.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.38;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1270853;dbSNPBuildID=87;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|WDR77|WDR77|transcript|NM_001317062.1|protein_coding|1/10|c.-54G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|WDR77|WDR77|transcript|NM_001317063.1|protein_coding|1/10|c.-54G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|WDR77|WDR77|transcript|NM_001317064.1|protein_coding|1/8|c.-54G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|WDR77|WDR77|transcript|NM_024102.3|protein_coding|1/10|c.-54G>T||||||,A|5_prime_UTR_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317062.1|protein_coding|1/10|c.-54G>T|||||54|,A|5_prime_UTR_variant|MODIFIER|ATP5F1|ATP5F1|transcript|NM_001688.4|protein_coding|1/7|c.-319C>A|||||319|,A|5_prime_UTR_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317063.1|protein_coding|1/10|c.-54G>T|||||54|,A|5_prime_UTR_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317064.1|protein_coding|1/8|c.-54G>T|||||54|,A|5_prime_UTR_variant|MODIFIER|WDR77|WDR77|transcript|NM_024102.3|protein_coding|1/10|c.-54G>T|||||54|,A|non_coding_transcript_exon_variant|MODIFIER|WDR77|WDR77|transcript|NR_133654.1|pseudogene|1/9|n.86G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2665;p3_1000G_AF=0.532149;p3_1000G_AFR_AF=0.5272;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=12574;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.3946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111991845;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:484,45,0
chr1	111449397	rs2298187	T	A	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.742;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.026;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298187;dbSNPBuildID=100;ANN=A|5_prime_UTR_variant|MODIFIER|ATP5F1|ATP5F1|transcript|NM_001688.4|protein_coding|1/7|c.-145T>A|||||145|,A|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317062.1|protein_coding||c.-228A>T|||||89|,A|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317063.1|protein_coding||c.-228A>T|||||89|,A|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317064.1|protein_coding||c.-228A>T|||||89|,A|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NM_024102.3|protein_coding||c.-228A>T|||||89|,A|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NR_133654.1|pseudogene||n.-89A>T|||||89|;p3_1000G_AA=T|||;p3_1000G_AC=551;p3_1000G_AF=0.110024;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=17139;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.0885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111992019;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:175,0,223
chr1	111449473	rs1264899	C	T	688.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1264899;dbSNPBuildID=87;ANN=T|5_prime_UTR_variant|MODIFIER|ATP5F1|ATP5F1|transcript|NM_001688.4|protein_coding|1/7|c.-69C>T|||||69|,T|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317062.1|protein_coding||c.-304G>A|||||165|,T|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317063.1|protein_coding||c.-304G>A|||||165|,T|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NM_001317064.1|protein_coding||c.-304G>A|||||165|,T|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NM_024102.3|protein_coding||c.-304G>A|||||165|,T|upstream_gene_variant|MODIFIER|WDR77|WDR77|transcript|NR_133654.1|pseudogene||n.-165G>A|||||165|;p3_1000G_AA=C|||;p3_1000G_AC=2466;p3_1000G_AF=0.492412;p3_1000G_AFR_AF=0.3888;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=18010;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.3936;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111992095;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=557,827;ESP6500_AA_GTC=120,317,255;ESP6500_CDS_SIZES=NM_001688.4:771;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=33;ESP6500_EA_AC=1286,1896;ESP6500_EA_GTC=257,772,562;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001688.4:utr-5;ESP6500_GL=ATP5F1;ESP6500_GRCh38_POSITION=1:111449473;ESP6500_GTC=377,1089,817;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001688.4:c.-69C>T;ESP6500_MAF=40.4148,40.2457,40.3636;ESP6500_TAC=1843,2723	GT:AD:DP:GQ:PL	1/1:0,21:21:63:717,63,0
chr1	111456057	rs12047479	C	A	859.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.39;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.07;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.488;SOR=0.972;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12047479;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ATP5F1|ATP5F1|transcript|NM_001688.4|protein_coding|3/6|c.224-29C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1657;p3_1000G_AF=0.330871;p3_1000G_AFR_AF=0.4281;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=20545;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.2893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111998679;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1814,2592;ESP6500_AA_AGE=637.1+/-396.7;ESP6500_AA_GTC=376,1062,765;ESP6500_CDS_SIZES=NM_001688.4:771;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=109;ESP6500_EA_AC=2755,5845;ESP6500_EA_AGE=677.8+/-403.4;ESP6500_EA_GTC=446,1863,1991;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001688.4:intron;ESP6500_GL=ATP5F1;ESP6500_GRCh38_POSITION=1:111456057;ESP6500_GTC=822,2925,2756;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001688.4:c.224-29C>A;ESP6500_MAF=32.0349,41.1711,35.1299;ESP6500_TAC=4569,8437	GT:AD:DP:GQ:PL	0/1:23,36:59:99:888,0,478
chr1	111483827	rs17027794	G	A	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.71;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17027794;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|5/5|c.974-70C>T||||||,A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|5/5|c.731-70C>T||||||,A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|4/4|c.467-70C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=454;p3_1000G_AF=0.090655;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=21487;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112026449;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,7:20:99:178,0,423
chr1	111486571	rs2252739	A	G	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.426;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.206;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.339;SOR=0.478;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2252739;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|4/5|c.872+15T>C||||||,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|4/5|c.629+15T>C||||||,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|3/4|c.365+15T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3960;p3_1000G_AF=0.790735;p3_1000G_AFR_AF=0.7405;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=13336;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.84;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112029193;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3317,1089;ESP6500_AA_AGE=394.2+/-329.2;ESP6500_AA_GTC=1234,849,120;ESP6500_CDS_SIZES=NM_020683.6:1044,NM_001081976.1:801;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=7024,1576;ESP6500_EA_AGE=294.4+/-301.9;ESP6500_EA_GTC=2866,1292,142;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020683.6:intron,NM_001081976.1:intron;ESP6500_GL=ADORA3;ESP6500_GRCh38_POSITION=1:111486571;ESP6500_GTC=4100,2141,262;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020683.6:c.872+15T>C,NM_001081976.1:c.629+15T>C;ESP6500_MAF=18.3256,24.7163,20.4905;ESP6500_TAC=10341,2665	GT:AD:DP:GQ:PL	0/1:19,23:42:99:542,0,412
chr1	111486703	rs2800906	A	G	862.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.47;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=-0.376;SOR=0.801;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2800906;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|3/5|c.806-51T>C||||||,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|3/5|c.563-51T>C||||||,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|2/4|c.299-51T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3946;p3_1000G_AF=0.787939;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=16698;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.836;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112029325;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3292,1114;ESP6500_AA_AGE=389.6+/-327.4;ESP6500_AA_GTC=1214,864,125;ESP6500_CDS_SIZES=NM_020683.6:1044,NM_001081976.1:801;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=7010,1590;ESP6500_EA_AGE=286.2+/-297.6;ESP6500_EA_GTC=2862,1286,152;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020683.6:intron,NM_001081976.1:intron;ESP6500_GL=ADORA3;ESP6500_GRCh38_POSITION=1:111486703;ESP6500_GTC=4076,2150,277;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020683.6:c.806-51T>C,NM_001081976.1:c.563-51T>C;ESP6500_MAF=18.4884,25.2837,20.7904;ESP6500_TAC=10302,2704	GT:AD:DP:GQ:PL	0/1:25,29:54:99:891,0,651
chr1	111489725	rs2789539	G	A	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.792;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2789539;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|2/5|c.458-701C>T||||||,A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|2/5|c.215-701C>T||||||,A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|1/4|c.108-858C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2452;p3_1000G_AF=0.489617;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=20299;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.6173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112032347;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:100,0,109
chr1	111490834	rs3831359;rs869055943	G	GA	247.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.271;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-1.074;SOR=1.911;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3831359;dbSNPBuildID=107,147;ANN=GA|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|1/5|c.351-73dupT||||||,GA|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|1/5|c.108-73dupT||||||,GA|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|1/4|c.108-1968dupT||||||;p3_1000G_AA=AAAA|AAA|AAAA|deletion;p3_1000G_AC=2573;p3_1000G_AF=0.513778;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=23846;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112033456;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,10:17:99:285,0,190
chr1	111490893	rs2252198	T	C	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.49;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2252198;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|1/5|c.351-131A>G||||||,C|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|1/5|c.108-131A>G||||||,C|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|1/4|c.108-2026A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2573;p3_1000G_AF=0.513778;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=22226;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112033515;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,4:12:99:0|1:111490893_T_C:143,0,372
chr1	111490897	rs2252197	A	G	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.191;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2252197;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|1/5|c.351-135T>C||||||,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|1/5|c.108-135T>C||||||,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|1/4|c.108-2030T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2572;p3_1000G_AF=0.513578;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=22157;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112033519;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,3:11:99:0|1:111490893_T_C:143,0,372
chr1	111500010	rs2229155	A	G	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.94;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.459;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-1.534;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229155;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|ADORA3|ADORA3|transcript|NM_000677.3|protein_coding|2/2|c.897T>C|p.Ala299Ala|1664/2245|897/957|299/318||,G|synonymous_variant|LOW|ADORA3|ADORA3|transcript|NM_001302679.1|protein_coding|2/2|c.462T>C|p.Ala154Ala|1170/1751|462/522|154/173||,G|3_prime_UTR_variant|MODIFIER|ADORA3|ADORA3|transcript|NM_001302678.1|protein_coding|2/2|c.*589T>C|||||589|,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|1/5|c.350+2995T>C||||||,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|1/5|c.108-9248T>C||||||,G|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|1/4|c.108-11143T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3874;p3_1000G_AF=0.773562;p3_1000G_AFR_AF=0.7352;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=23455;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.834;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112042632;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3269,1137;ESP6500_AA_AGE=404.9+/-333.3;ESP6500_AA_GTC=1198,873,132;ESP6500_CDS_SIZES=NM_020683.6:1044,NM_001081976.1:801,NM_000677.3:957;ESP6500_CG=4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=74;ESP6500_EA_AC=7006,1594;ESP6500_EA_AGE=296.6+/-303.0;ESP6500_EA_GTC=2852,1302,146;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020683.6:intron,NM_001081976.1:intron,NM_000677.3:coding-synonymous;ESP6500_GL=ADORA3;ESP6500_GRCh38_POSITION=1:111500010;ESP6500_GTC=4050,2175,278;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020683.6:c.350+2995T>C,NM_001081976.1:c.108-9248T>C,NM_000677.3:c.897T>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_000677.3:p.(A299);ESP6500_MAF=18.5349,25.8057,20.998;ESP6500_TAC=10275,2731	GT:AD:DP:GQ:PL	0/1:18,16:34:99:470,0,477
chr1	111500706	rs2798566	T	C	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.76;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.615;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2798566;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|1/5|c.350+2299A>G||||||,C|intron_variant|MODIFIER|ADORA3|ADORA3|transcript|NM_000677.3|protein_coding|1/1|c.351-150A>G||||||,C|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|1/5|c.108-9944A>G||||||,C|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|1/4|c.108-11839A>G||||||,C|intron_variant|MODIFIER|ADORA3|ADORA3|transcript|NM_001302678.1|protein_coding|1/1|c.351-86A>G||||||,C|intron_variant|MODIFIER|ADORA3|ADORA3|transcript|NM_001302679.1|protein_coding|1/1|c.-85-150A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3874;p3_1000G_AF=0.773562;p3_1000G_AFR_AF=0.736;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=21653;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.834;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112043328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:252,0,310
chr1	111502841	rs12127443	T	A	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.729;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.031;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=1.16;SOR=0.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12127443;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_020683.6|protein_coding|1/5|c.350+164A>T||||||,A|intron_variant|MODIFIER|ADORA3|ADORA3|transcript|NM_000677.3|protein_coding|1/1|c.350+164A>T||||||,A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001081976.2|protein_coding|1/5|c.108-12079A>T||||||,A|intron_variant|MODIFIER|TMIGD3|TMIGD3|transcript|NM_001302680.1|protein_coding|1/4|c.108-13974A>T||||||,A|intron_variant|MODIFIER|ADORA3|ADORA3|transcript|NM_001302678.1|protein_coding|1/1|c.350+164A>T||||||,A|intron_variant|MODIFIER|ADORA3|ADORA3|transcript|NM_001302679.1|protein_coding|1/1|c.-86+658A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3513;p3_1000G_AF=0.701478;p3_1000G_AFR_AF=0.6513;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=16207;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112045463;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,15:25:99:422,0,260
chr1	111691462	rs10489469	G	T	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.147;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.41;ReadPosRankSum=0.415;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10489469;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_001010935.2|protein_coding|3/8|c.57+45G>T||||||,T|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_002884.3|protein_coding|2/7|c.57+45G>T||||||,T|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_001291896.1|protein_coding|2/7|c.57+45G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=594;p3_1000G_AF=0.11861;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=17941;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.1501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112234084;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=148,4258;ESP6500_AA_AGE=99.8+/-138.5;ESP6500_AA_GTC=2,144,2057;ESP6500_CDS_SIZES=NM_002884.2:555,NM_001010935.1:555;ESP6500_CG=4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=62;ESP6500_EA_AC=1380,7220;ESP6500_EA_AGE=264.6+/-285.7;ESP6500_EA_GTC=114,1152,3034;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002884.2:intron,NM_001010935.1:intron;ESP6500_GL=RAP1A;ESP6500_GRCh38_POSITION=1:111691462;ESP6500_GTC=116,1296,5091;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002884.2:c.57+45G>T,NM_001010935.1:c.57+45G>T;ESP6500_MAF=16.0465,3.3591,11.7484;ESP6500_TAC=1528,11478	GT:AD:DP:GQ:PL	0/1:12,7:19:99:150,0,312
chr1	111695293	rs7525307	A	T	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=0.566;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7525307;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_001010935.2|protein_coding|3/8|c.58-48A>T||||||,T|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_002884.3|protein_coding|2/7|c.58-48A>T||||||,T|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_001291896.1|protein_coding|2/7|c.58-48A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1616;p3_1000G_AF=0.322684;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=14636;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.337;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112237915;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=807,3423;ESP6500_AA_GTC=79,649,1387;ESP6500_CDS_SIZES=NM_002884.2:555,NM_001010935.1:555;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=11;ESP6500_EA_AC=2920,5556;ESP6500_EA_GTC=521,1878,1839;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002884.2:intron,NM_001010935.1:intron;ESP6500_GL=RAP1A;ESP6500_GRCh38_POSITION=1:111695293;ESP6500_GTC=600,2527,3226;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002884.2:c.58-48A>T,NM_001010935.1:c.58-48A>T;ESP6500_MAF=34.4502,19.078,29.3326;ESP6500_TAC=3727,8979	GT:AD:DP:GQ:PL	0/1:3,4:7:70:130,0,70
chr1	111709361	rs3738300	C	G	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0.842;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738300;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_001010935.2|protein_coding|8/8|c.*29+97C>G||||||,G|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_002884.3|protein_coding|7/7|c.*29+97C>G||||||,G|intron_variant|MODIFIER|RAP1A|RAP1A|transcript|NM_001291896.1|protein_coding|7/7|c.*29+97C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1615;p3_1000G_AF=0.322484;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=20858;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112251983;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:70:108,0,70
chr1	111727250	rs197434	G	A	2277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs197434;dbSNPBuildID=79;ANN=A|synonymous_variant|LOW|FAM212B|FAM212B|transcript|NM_019099.4|protein_coding|2/2|c.612C>T|p.Phe204Phe|794/5980|612/894|204/297||,A|synonymous_variant|LOW|FAM212B|FAM212B|transcript|NM_198926.2|protein_coding|2/2|c.567C>T|p.Phe189Phe|652/5838|567/849|189/282||;p3_1000G_AA=A|||;p3_1000G_AC=4310;p3_1000G_AF=0.860623;p3_1000G_AFR_AF=0.9607;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=16797;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.8191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112269872;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8855;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4111,295;ESP6500_AA_AGE=161.1+/-193.3;ESP6500_AA_GTC=1922,267,14;ESP6500_CDS_SIZES=NM_198926.2:849,NM_019099.4:894;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=63;ESP6500_EA_AC=7041,1559;ESP6500_EA_AGE=292.0+/-300.6;ESP6500_EA_GTC=2906,1229,165;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198926.2:coding-synonymous,NM_019099.4:coding-synonymous;ESP6500_GL=FAM212B;ESP6500_GRCh38_POSITION=1:111727250;ESP6500_GTC=4828,1496,179;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198926.2:c.567C>T,NM_019099.4:c.612C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198926.2:p.(F189),NM_019099.4:p.(F204);ESP6500_MAF=18.1279,6.6954,14.255;ESP6500_TAC=11152,1854	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2306,222,0
chr1	111762784	rs752233854	TA	T	289.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.851;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-0.727;SOR=0.469;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|DDX20|DDX20|transcript|NM_007204.4|protein_coding|9/10|c.1210+18delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:22,18:40:99:327,0,448
chr1	111775862	rs12033257	A	G	46.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12033257;dbSNPBuildID=120;ANN=G|3_prime_UTR_variant|MODIFIER|KCND3|KCND3|transcript|NM_004980.4|protein_coding|8/8|c.*215T>C|||||215|,G|3_prime_UTR_variant|MODIFIER|KCND3|KCND3|transcript|NM_172198.2|protein_coding|7/7|c.*215T>C|||||215|;p3_1000G_AA=A|||;p3_1000G_AC=2161;p3_1000G_AF=0.43151;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=8380;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.3817;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112318484;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:74,6,0
chr1	111991027	rs74527086	C	G	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=0.567;SOR=0.845;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74527086;dbSNPBuildID=132;ANN=G|missense_variant|MODERATE|LOC643355|LOC643355|transcript|NM_001270945.1|protein_coding|1/2|c.131C>G|p.Pro44Arg|460/3035|131/378|44/125||,G|upstream_gene_variant|MODIFIER|KCND3|KCND3|transcript|NM_004980.4|protein_coding||c.-8301G>C|||||1872|,G|upstream_gene_variant|MODIFIER|KCND3|KCND3|transcript|NM_172198.2|protein_coding||c.-8301G>C|||||1872|;p3_1000G_AA=C|||;p3_1000G_AC=119;p3_1000G_AF=0.023762;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12865;p3_1000G_EAS_AF=0.0873;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112533649;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,7:20:99:184,0,332
chr1	111991106	rs59747755	G	A	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.83;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.66;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-1.796;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59747755;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|LOC643355|LOC643355|transcript|NM_001270945.1|protein_coding|1/2|c.210G>A|p.Ala70Ala|539/3035|210/378|70/125||,A|upstream_gene_variant|MODIFIER|KCND3|KCND3|transcript|NM_004980.4|protein_coding||c.-8380C>T|||||1951|,A|upstream_gene_variant|MODIFIER|KCND3|KCND3|transcript|NM_172198.2|protein_coding||c.-8380C>T|||||1951|;p3_1000G_AA=G|||;p3_1000G_AC=391;p3_1000G_AF=0.0780751;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=14346;p3_1000G_EAS_AF=0.0883;p3_1000G_EUR_AF=0.1193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112533728;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,11:24:99:232,0,326
chr1	111996439	rs2366125	A	G	477.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.374;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.861;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2366125;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|LOC643355|LOC643355|transcript|NM_001270945.1|protein_coding|2/2|c.304A>G|p.Ile102Val|633/3035|304/378|102/125||;p3_1000G_AA=A|||;p3_1000G_AC=1720;p3_1000G_AF=0.34345;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=22728;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112539061;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,20:38:99:506,0,446
chr1	112449240	rs3818729	G	T	650.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3818729;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CTTNBP2NL|CTTNBP2NL|transcript|NM_018704.2|protein_coding|4/5|c.330+68G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1327;p3_1000G_AF=0.264976;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=17768;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.2008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112991862;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:679,54,0
chr1	112456605	rs1175641	G	A	1992.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.97;SOR=1.199;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1175641;dbSNPBuildID=87;ANN=A|synonymous_variant|LOW|CTTNBP2NL|CTTNBP2NL|transcript|NM_018704.2|protein_coding|6/6|c.1113G>A|p.Gln371Gln|1341/5900|1113/1920|371/639||;p3_1000G_AA=A|||;p3_1000G_AC=4706;p3_1000G_AF=0.939696;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=19842;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8608;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112999227;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9387;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4109,297;ESP6500_AA_AGE=163.3+/-195.1;ESP6500_AA_GTC=1914,281,8;ESP6500_CDS_SIZES=NM_018704.2:1920;ESP6500_CG=-0.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=101;ESP6500_EA_AC=7376,1224;ESP6500_EA_AGE=246.9+/-275.2;ESP6500_EA_GTC=3157,1062,81;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018704.2:coding-synonymous;ESP6500_GL=CTTNBP2NL;ESP6500_GRCh38_POSITION=1:112456605;ESP6500_GTC=5071,1343,89;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018704.2:c.1113G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018704.2:p.(Q371);ESP6500_MAF=14.2326,6.7408,11.6946;ESP6500_TAC=11485,1521	GT:AD:DP:GQ:PL	1/1:0,56:56:99:2021,168,0
chr1	112509533	rs3790605	C	G	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.66;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.282;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790605;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|WNT2B|WNT2B|transcript|NM_024494.2|protein_coding|1/4|c.182+89C>G||||||,G|intron_variant|MODIFIER|WNT2B|WNT2B|transcript|NM_001291880.1|protein_coding|1/4|c.-94-5341C>G||||||,G|intron_variant|MODIFIER|WNT2B|WNT2B|transcript|NM_004185.4|protein_coding|2/5|c.126-5341C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1306;p3_1000G_AF=0.260783;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=13525;p3_1000G_EAS_AF=0.3968;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113052155;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:168,0,217
chr1	112520503	rs910697	A	G	2568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=1.15;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs910697;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|WNT2B|WNT2B|transcript|NM_024494.2|protein_coding|5/5|c.1170A>G|p.Gln390Gln|1685/2470|1170/1176|390/391||,G|synonymous_variant|LOW|WNT2B|WNT2B|transcript|NM_001291880.1|protein_coding|5/5|c.894A>G|p.Gln298Gln|2039/2824|894/900|298/299||,G|synonymous_variant|LOW|WNT2B|WNT2B|transcript|NM_004185.4|protein_coding|6/6|c.1113A>G|p.Gln371Gln|2110/2895|1113/1119|371/372||,G|downstream_gene_variant|MODIFIER|ST7L|ST7L|transcript|NM_017744.4|protein_coding||c.*5510T>C|||||3016|,G|downstream_gene_variant|MODIFIER|ST7L|ST7L|transcript|NM_001308264.1|protein_coding||c.*5510T>C|||||3016|,G|downstream_gene_variant|MODIFIER|ST7L|ST7L|transcript|NM_138727.3|protein_coding||c.*5510T>C|||||3016|,G|downstream_gene_variant|MODIFIER|ST7L|ST7L|transcript|NM_138728.2|protein_coding||c.*5510T>C|||||3016|;p3_1000G_AA=G|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=19029;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.4612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113063125;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2267,2139;ESP6500_AA_AGE=577.5+/-384.5;ESP6500_AA_GTC=593,1081,529;ESP6500_CDS_SIZES=NM_024494.2:1176,NM_004185.3:1119;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=108;ESP6500_EA_AC=3921,4679;ESP6500_EA_AGE=602.9+/-394.6;ESP6500_EA_GTC=902,2117,1281;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024494.2:coding-synonymous,NM_004185.3:coding-synonymous;ESP6500_GL=WNT2B;ESP6500_GRCh38_POSITION=1:112520503;ESP6500_GTC=1495,3198,1810;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024494.2:c.1170A>G,NM_004185.3:c.1113A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024494.2:p.(Q390),NM_004185.3:p.(Q371);ESP6500_MAF=45.593,48.5474,47.578;ESP6500_TAC=6188,6818	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2597,231,0
chr1	112525955	rs35147679	C	T	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.391;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.1;ReadPosRankSum=-1.296;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35147679;dbSNPBuildID=126;ANN=T|3_prime_UTR_variant|MODIFIER|ST7L|ST7L|transcript|NM_017744.4|protein_coding|15/15|c.*58G>A|||||58|,T|3_prime_UTR_variant|MODIFIER|ST7L|ST7L|transcript|NM_001308264.1|protein_coding|14/14|c.*58G>A|||||58|,T|3_prime_UTR_variant|MODIFIER|ST7L|ST7L|transcript|NM_138727.3|protein_coding|15/15|c.*58G>A|||||58|,T|3_prime_UTR_variant|MODIFIER|ST7L|ST7L|transcript|NM_138728.2|protein_coding|14/14|c.*58G>A|||||58|,T|downstream_gene_variant|MODIFIER|WNT2B|WNT2B|transcript|NM_024494.2|protein_coding||c.*5446C>T|||||4667|,T|downstream_gene_variant|MODIFIER|WNT2B|WNT2B|transcript|NM_001291880.1|protein_coding||c.*5446C>T|||||4667|,T|downstream_gene_variant|MODIFIER|WNT2B|WNT2B|transcript|NM_004185.4|protein_coding||c.*5446C>T|||||4667|;p3_1000G_AA=C|||;p3_1000G_AC=1137;p3_1000G_AF=0.227037;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=21527;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113068577;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:120,0,312
chr1	112540817	rs10745330	C	T	1039.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10745330;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|ST7L|ST7L|transcript|NM_138729.3|protein_coding||c.*1095G>A|||||974|,T|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_017744.4|protein_coding|14/14|c.1629+1134G>A||||||,T|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_001308264.1|protein_coding|13/13|c.1080+1134G>A||||||,T|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_138727.3|protein_coding|14/14|c.1578+1134G>A||||||,T|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_138728.2|protein_coding|13/13|c.1536+1134G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2453;p3_1000G_AF=0.489816;p3_1000G_AFR_AF=0.5333;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=19043;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113083439;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1068,111,0
chr1	112555912	rs6658555	C	T	594.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.101;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.42;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6658555;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|ST7L|ST7L|transcript|NM_017744.4|protein_coding|12/15|c.1352G>A|p.Arg451Gln|1657/4527|1352/1728|451/575||,T|missense_variant|MODERATE|ST7L|ST7L|transcript|NM_001308264.1|protein_coding|11/14|c.803G>A|p.Arg268Gln|1448/4318|803/1179|268/392||,T|missense_variant|MODERATE|ST7L|ST7L|transcript|NM_138727.3|protein_coding|12/15|c.1301G>A|p.Arg434Gln|1606/4476|1301/1677|434/558||,T|missense_variant|MODERATE|ST7L|ST7L|transcript|NM_138728.2|protein_coding|12/14|c.1352G>A|p.Arg451Gln|1657/4434|1352/1635|451/544||,T|missense_variant|MODERATE|ST7L|ST7L|transcript|NM_138729.3|protein_coding|12/14|c.1352G>A|p.Arg451Gln|1657/2094|1352/1668|451/555||;p3_1000G_AA=C|||;p3_1000G_AC=625;p3_1000G_AF=0.1248;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=18068;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.2406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113098534;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=520,3886;ESP6500_AA_AGE=238.0+/-249.6;ESP6500_AA_GTC=31,458,1714;ESP6500_CDS_SIZES=NM_138729.3:1668,NM_138728.2:1635,NM_138727.3:1677,NM_017744.4:1728;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=130;ESP6500_EA_AC=2139,6461;ESP6500_EA_AGE=366.0+/-334.1;ESP6500_EA_GTC=278,1583,2439;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138729.3:missense,NM_138728.2:missense,NM_138727.3:missense,NM_017744.4:missense;ESP6500_GL=ST7L;ESP6500_GRCh38_POSITION=1:112555912;ESP6500_GS=43,43,43,43;ESP6500_GTC=309,2041,4153;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138729.3:c.1352G>A,NM_138728.2:c.1352G>A,NM_138727.3:c.1301G>A,NM_017744.4:c.1352G>A;ESP6500_HGVS_PROTEIN_VAR=NM_138729.3:p.(R451Q),NM_138728.2:p.(R451Q),NM_138727.3:p.(R434Q),NM_017744.4:p.(R451Q);ESP6500_MAF=24.8721,11.8021,20.4444;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=2659,10347	GT:AD:DP:GQ:PL	0/1:20,29:49:99:623,0,435
chr1	112597961	rs12049572	T	C	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.978;SOR=1.532;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12049572;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_017744.4|protein_coding|5/14|c.622+10A>G||||||,C|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_001308264.1|protein_coding|4/13|c.73+10A>G||||||,C|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_138727.3|protein_coding|5/14|c.571+10A>G||||||,C|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_138728.2|protein_coding|5/13|c.622+10A>G||||||,C|intron_variant|MODIFIER|ST7L|ST7L|transcript|NM_138729.3|protein_coding|5/13|c.622+10A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1138;p3_1000G_AF=0.227236;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=15213;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113140583;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2106;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=352,4054;ESP6500_AA_AGE=180.1+/-208.5;ESP6500_AA_GTC=22,308,1873;ESP6500_CDS_SIZES=NM_138729.3:1668,NM_138728.2:1635,NM_138727.3:1677,NM_017744.4:1728;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=107;ESP6500_EA_AC=1769,6831;ESP6500_EA_AGE=321.3+/-315.0;ESP6500_EA_GTC=177,1415,2708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138729.3:intron,NM_138728.2:intron,NM_138727.3:intron,NM_017744.4:intron;ESP6500_GL=ST7L;ESP6500_GRCh38_POSITION=1:112597961;ESP6500_GTC=199,1723,4581;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138729.3:c.622+10A>G,NM_138728.2:c.622+10A>G,NM_138727.3:c.571+10A>G,NM_017744.4:c.622+10A>G;ESP6500_MAF=20.5698,7.9891,16.3079;ESP6500_TAC=2121,10885	GT:AD:DP:GQ:PL	0/1:9,11:20:99:318,0,224
chr1	112659581	rs200009640	TCTCTC	T	373.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.78;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.346;SOR=1.565;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs200009640;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|CAPZA1|CAPZA1|transcript|NM_006135.2|protein_coding|6/9|c.507-119_507-115delCTCTC||||||	GT:AD:DP:GQ:PL	0/1:17,11:28:99:411,0,1084
chr1	112688881	rs12129649	G	T	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.135;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.135;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12129649;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|4/22|c.-85G>T|||||85|,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|2/20|c.138-54G>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_020963.4|protein_coding|2/20|c.138-54G>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|2/20|c.138-54G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=646;p3_1000G_AF=0.128994;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=15308;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113231503;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:69:135,0,69
chr1	112691557	rs3795819	C	T	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.936;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.355;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795819;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|5/20|c.837-108C>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|6/21|c.669-108C>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_020963.4|protein_coding|5/20|c.837-108C>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|5/20|c.837-108C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1422;p3_1000G_AF=0.283946;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=19142;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113234179;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,13:21:99:364,0,224
chr1	112693912	rs1110042	A	T	322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.196;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.17;ReadPosRankSum=-1.66;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1110042;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|7/20|c.1141-106A>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|8/21|c.973-106A>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_020963.4|protein_coding|7/20|c.1141-106A>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|7/20|c.1141-106A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1426;p3_1000G_AF=0.284744;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=16530;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113236534;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,11:16:99:351,0,151
chr1	112694059	rs3748656	C	T	724.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.853;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=4.262;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.728;SOR=1.032;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748656;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|8/21|c.1182C>T|p.Gly394Gly|1405/3474|1182/3012|394/1003||,T|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|9/22|c.1014C>T|p.Gly338Gly|2429/4498|1014/2844|338/947||,T|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_020963.4|protein_coding|8/21|c.1182C>T|p.Gly394Gly|1681/3750|1182/3012|394/1003||,T|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|8/21|c.1182C>T|p.Gly394Gly|1306/3366|1182/3012|394/1003||;p3_1000G_AA=C|||;p3_1000G_AC=1426;p3_1000G_AF=0.284744;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=17209;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113236681;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=805,3601;ESP6500_AA_AGE=321.3+/-297.0;ESP6500_AA_GTC=83,639,1481;ESP6500_CDS_SIZES=NM_020963.3:3012,NM_001130079.1:3012;ESP6500_CG=-10.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=98;ESP6500_EA_AC=1768,6832;ESP6500_EA_AGE=321.1+/-314.9;ESP6500_EA_GTC=181,1406,2713;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020963.3:coding-synonymous,NM_001130079.1:coding-synonymous;ESP6500_GL=MOV10;ESP6500_GRCh38_POSITION=1:112694059;ESP6500_GTC=264,2045,4194;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020963.3:c.1182C>T,NM_001130079.1:c.1182C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020963.3:p.(G394),NM_001130079.1:p.(G394);ESP6500_MAF=20.5581,18.2705,19.7832;ESP6500_TAC=2573,10433	GT:AD:DP:GQ:PL	0/1:18,30:48:99:753,0,485
chr1	112694549	rs883593	A	G	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.445;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs883593;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|9/21|c.1392A>G|p.Thr464Thr|1615/3474|1392/3012|464/1003||,G|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|10/22|c.1224A>G|p.Thr408Thr|2639/4498|1224/2844|408/947||,G|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_020963.4|protein_coding|9/21|c.1392A>G|p.Thr464Thr|1891/3750|1392/3012|464/1003||,G|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|9/21|c.1392A>G|p.Thr464Thr|1516/3366|1392/3012|464/1003||;p3_1000G_AA=G|||;p3_1000G_AC=1426;p3_1000G_AF=0.284744;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=17708;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113237171;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=803,3603;ESP6500_AA_AGE=743.3+/-411.4;ESP6500_AA_GTC=83,637,1483;ESP6500_CDS_SIZES=NM_020963.3:3012,NM_001130079.1:3012;ESP6500_CG=-10.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=38;ESP6500_EA_AC=1763,6837;ESP6500_EA_AGE=726.8+/-406.6;ESP6500_EA_GTC=180,1403,2717;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020963.3:coding-synonymous,NM_001130079.1:coding-synonymous;ESP6500_GL=MOV10;ESP6500_GRCh38_POSITION=1:112694549;ESP6500_GTC=263,2040,4200;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020963.3:c.1392A>G,NM_001130079.1:c.1392A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020963.3:p.(T464),NM_001130079.1:p.(T464);ESP6500_MAF=20.5,18.2251,19.7294;ESP6500_TAC=2566,10440	GT:AD:DP:GQ:PL	0/1:21,12:33:99:336,0,549
chr1	112696760	rs17030651	G	A	977.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.903;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0.845;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.988;SOR=0.75;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17030651;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|14/21|c.2112G>A|p.Glu704Glu|2335/3474|2112/3012|704/1003||,A|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|15/22|c.1944G>A|p.Glu648Glu|3359/4498|1944/2844|648/947||,A|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_020963.4|protein_coding|14/21|c.2112G>A|p.Glu704Glu|2611/3750|2112/3012|704/1003||,A|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|14/21|c.2112G>A|p.Glu704Glu|2236/3366|2112/3012|704/1003||,A|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding||c.*4780C>T|||||4367|,A|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding||c.*4780C>T|||||4367|,A|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding||c.*4780C>T|||||4367|;p3_1000G_AA=G|||;p3_1000G_AC=1175;p3_1000G_AF=0.234625;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=18993;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113239382;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=425,3981;ESP6500_AA_AGE=193.0+/-218.2;ESP6500_AA_GTC=26,373,1804;ESP6500_CDS_SIZES=NM_020963.3:3012,NM_001130079.1:3012;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=53;ESP6500_EA_AC=1748,6852;ESP6500_EA_AGE=294.4+/-301.9;ESP6500_EA_GTC=179,1390,2731;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020963.3:coding-synonymous,NM_001130079.1:coding-synonymous;ESP6500_GL=MOV10;ESP6500_GRCh38_POSITION=1:112696760;ESP6500_GTC=205,1763,4535;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020963.3:c.2112G>A,NM_001130079.1:c.2112G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020963.3:p.(E704),NM_001130079.1:p.(E704);ESP6500_MAF=20.3256,9.6459,16.7077;ESP6500_TAC=2173,10833	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1006,0,1097
chr1	112696856	rs2999158	T	C	754.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.24;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.65;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2999158;dbSNPBuildID=101;ANN=C|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding||c.*4684A>G|||||4271|,C|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding||c.*4684A>G|||||4271|,C|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding||c.*4684A>G|||||4271|,C|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|14/20|c.2198+10T>C||||||,C|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|15/21|c.2030+10T>C||||||,C|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_020963.4|protein_coding|14/20|c.2198+10T>C||||||,C|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|14/20|c.2198+10T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4038;p3_1000G_AF=0.80631;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.8458;p3_1000G_AN=5008;p3_1000G_DP=17981;p3_1000G_EAS_AF=0.8442;p3_1000G_EUR_AF=0.666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113239478;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3716,680;ESP6500_AA_GTC=1582,552,64;ESP6500_CDS_SIZES=NM_020963.3:3012,NM_001130079.1:3012;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=35;ESP6500_EA_AC=5746,2836;ESP6500_EA_GTC=1961,1824,506;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020963.3:intron,NM_001130079.1:intron;ESP6500_GL=MOV10;ESP6500_GRCh38_POSITION=1:112696856;ESP6500_GTC=3543,2376,570;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020963.3:c.2198+10T>C,NM_001130079.1:c.2198+10T>C;ESP6500_MAF=33.0459,15.4686,27.092;ESP6500_TAC=9462,3516	GT:AD:DP:GQ:PL	0/1:30,27:57:99:783,0,723
chr1	112698168	rs12133583	G	T	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.212;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.035;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12133583;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding||c.*3372C>A|||||2959|,T|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding||c.*3372C>A|||||2959|,T|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding||c.*3372C>A|||||2959|,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|15/20|c.2316+57G>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|16/21|c.2148+57G>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_020963.4|protein_coding|15/20|c.2316+57G>T||||||,T|intron_variant|MODIFIER|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|15/20|c.2316+57G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1426;p3_1000G_AF=0.284744;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=17377;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113240790;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,13:24:99:412,0,387
chr1	112698430	rs2306940	T	C	815.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-1.122;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306940;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|16/21|c.2460T>C|p.Ala820Ala|2683/3474|2460/3012|820/1003||,C|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|17/22|c.2292T>C|p.Ala764Ala|3707/4498|2292/2844|764/947||,C|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_020963.4|protein_coding|16/21|c.2460T>C|p.Ala820Ala|2959/3750|2460/3012|820/1003||,C|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|16/21|c.2460T>C|p.Ala820Ala|2584/3366|2460/3012|820/1003||,C|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding||c.*3110A>G|||||2697|,C|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding||c.*3110A>G|||||2697|,C|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding||c.*3110A>G|||||2697|;p3_1000G_AA=C|||;p3_1000G_AC=1438;p3_1000G_AF=0.287141;p3_1000G_AFR_AF=0.1762;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=18562;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113241052;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=827,3579;ESP6500_AA_AGE=746.2+/-411.7;ESP6500_AA_GTC=90,647,1466;ESP6500_CDS_SIZES=NM_020963.3:3012,NM_001130079.1:3012;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=1766,6834;ESP6500_EA_AGE=731.5+/-406.8;ESP6500_EA_GTC=181,1404,2715;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020963.3:coding-synonymous,NM_001130079.1:coding-synonymous;ESP6500_GL=MOV10;ESP6500_GRCh38_POSITION=1:112698430;ESP6500_GTC=271,2051,4181;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020963.3:c.2460T>C,NM_001130079.1:c.2460T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020963.3:p.(A820),NM_001130079.1:p.(A820);ESP6500_MAF=20.5349,18.7699,19.937;ESP6500_TAC=2593,10413	GT:AD:DP:GQ:PL	0/1:26,30:56:99:844,0,667
chr1	112700426	rs6679	C	T	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.936;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.02;ReadPosRankSum=0.392;SOR=0.902;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6679;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001130079.2|protein_coding|21/21|c.2931C>T|p.Ser977Ser|3154/3474|2931/3012|977/1003||,T|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001286072.1|protein_coding|22/22|c.2763C>T|p.Ser921Ser|4178/4498|2763/2844|921/947||,T|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_020963.4|protein_coding|21/21|c.2931C>T|p.Ser977Ser|3430/3750|2931/3012|977/1003||,T|synonymous_variant|LOW|MOV10|MOV10|transcript|NM_001321324.1|protein_coding|21/21|c.2931C>T|p.Ser977Ser|3055/3366|2931/3012|977/1003||,T|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding||c.*1114G>A|||||701|,T|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding||c.*1114G>A|||||701|,T|downstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding||c.*1114G>A|||||701|;p3_1000G_AA=T|||;p3_1000G_AC=1422;p3_1000G_AF=0.283946;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=18569;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113243048;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=822,3584;ESP6500_AA_AGE=749.2+/-412.0;ESP6500_AA_GTC=90,642,1471;ESP6500_CDS_SIZES=NM_020963.3:3012,NM_001130079.1:3012;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=87;ESP6500_EA_AC=1769,6831;ESP6500_EA_AGE=734.4+/-406.9;ESP6500_EA_GTC=182,1405,2713;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020963.3:coding-synonymous,NM_001130079.1:coding-synonymous;ESP6500_GL=MOV10;ESP6500_GRCh38_POSITION=1:112700426;ESP6500_GTC=272,2047,4184;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020963.3:c.2931C>T,NM_001130079.1:c.2931C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020963.3:p.(S977),NM_001130079.1:p.(S977);ESP6500_MAF=20.5698,18.6564,19.9216;ESP6500_TAC=2591,10415	GT:AD:DP:GQ:PL	0/1:34,13:47:99:264,0,1051
chr1	112701811	rs2279500	T	C	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.938;SOR=0.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2279500;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001130079.2|protein_coding||c.*1304T>C|||||1065|,C|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001286072.1|protein_coding||c.*1304T>C|||||1065|,C|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_020963.4|protein_coding||c.*1304T>C|||||1065|,C|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001321324.1|protein_coding||c.*1304T>C|||||1074|,C|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding|4/4|c.409-98A>G||||||,C|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding|5/5|c.409-98A>G||||||,C|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding|5/5|c.409-98A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4476;p3_1000G_AF=0.89377;p3_1000G_AFR_AF=0.885;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=15628;p3_1000G_EAS_AF=0.9107;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113244433;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,7:20:99:202,0,414
chr1	112704941	rs2279499	G	A	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.241;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.78;ReadPosRankSum=0.812;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2279499;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001130079.2|protein_coding||c.*4434G>A|||||4195|,A|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001286072.1|protein_coding||c.*4434G>A|||||4195|,A|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_020963.4|protein_coding||c.*4434G>A|||||4195|,A|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001321324.1|protein_coding||c.*4434G>A|||||4204|,A|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding|1/4|c.-7-1135C>T||||||,A|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding|2/5|c.-8+159C>T||||||,A|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding|2/5|c.-8+159C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1205;p3_1000G_AF=0.240615;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=16796;p3_1000G_EAS_AF=0.4494;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113247563;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:76:76,0,232
chr1	112705091	rs35221527	G	A	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.34;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.406;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35221527;dbSNPBuildID=126;ANN=A|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001130079.2|protein_coding||c.*4584G>A|||||4345|,A|downstream_gene_variant|MODIFIER|PPM1J|PPM1J|transcript|NM_005167.5|protein_coding||c.*5072C>T|||||4903|,A|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001286072.1|protein_coding||c.*4584G>A|||||4345|,A|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_020963.4|protein_coding||c.*4584G>A|||||4345|,A|downstream_gene_variant|MODIFIER|MOV10|MOV10|transcript|NM_001321324.1|protein_coding||c.*4584G>A|||||4354|,A|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding|1/4|c.-7-1285C>T||||||,A|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding|2/5|c.-8+9C>T||||||,A|intron_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding|2/5|c.-8+9C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=449;p3_1000G_AF=0.0896565;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=17644;p3_1000G_EAS_AF=0.0913;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113247713;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,20:34:99:482,0,344
chr1	112711503	rs12040903	G	A	117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=-0.275;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12040903;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding||c.-7704C>T|||||4100|,A|upstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding||c.-7704C>T|||||4447|,A|upstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding||c.-7704C>T|||||4100|,A|intron_variant|MODIFIER|PPM1J|PPM1J|transcript|NM_005167.5|protein_coding|5/9|c.928-119C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1094;p3_1000G_AF=0.21845;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=21564;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113254125;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:146,0,266
chr1	112711862	rs4839258	A	G	480.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4839258;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042678.1|protein_coding||c.-8063T>C|||||4459|,G|upstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_001042679.1|protein_coding||c.-8063T>C|||||4806|,G|upstream_gene_variant|MODIFIER|RHOC|RHOC|transcript|NM_175744.4|protein_coding||c.-8063T>C|||||4459|,G|intron_variant|MODIFIER|PPM1J|PPM1J|transcript|NM_005167.5|protein_coding|5/9|c.927+109T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4940;p3_1000G_AF=0.986422;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16853;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113254484;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:509,36,0
chr1	112712409	rs375324200	A	G	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.052;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=-0.945;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375324200;dbSNPBuildID=138;ANN=G|missense_variant|MODERATE|PPM1J|PPM1J|transcript|NM_005167.5|protein_coding|4/10|c.778T>C|p.Cys260Arg|805/1714|778/1518|260/505||;p3_1000G_AA=A|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16176;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113255031;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,14:36:99:310,0,558
chr1	112712590	rs12137976	G	T	502.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12137976;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PPM1J|PPM1J|transcript|NM_005167.5|protein_coding|3/9|c.730-133C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2210;p3_1000G_AF=0.441294;p3_1000G_AFR_AF=0.5045;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=17119;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113255212;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:531,48,0
chr1	112712767	rs10857971	C	T	501.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10857971;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|PPM1J|PPM1J|transcript|NM_005167.5|protein_coding|3/10|c.706G>A|p.Val236Ile|733/1714|706/1518|236/505||;p3_1000G_AA=T|||;p3_1000G_AC=4847;p3_1000G_AF=0.967851;p3_1000G_AFR_AF=0.8835;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=16951;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113255389;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3900,506;ESP6500_AA_AGE=233.9+/-246.9;ESP6500_AA_GTC=1727,446,30;ESP6500_CDS_SIZES=NM_005167.5:1518;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=99;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005167.5:missense;ESP6500_GL=PPM1J;ESP6500_GRCh38_POSITION=1:112712767;ESP6500_GS=29;ESP6500_GTC=6024,449,30;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005167.5:c.706G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005167.5:p.(V236I);ESP6500_MAF=0.0349,11.4843,3.9136;ESP6500_PH=benign:0.002;ESP6500_TAC=12497,509	GT:AD:DP:GQ:PL	1/1:0,17:17:51:530,51,0
chr1	112713064	rs147819439;rs36095892	T	TTG	166.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.863;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.285;SOR=0.061;INS;HET;VARTYPE=INS;dbSNP138_ID=rs147819439,rs36095892;dbSNPBuildID=134,126;ANN=TTG|intron_variant|MODIFIER|PPM1J|PPM1J|transcript|NM_005167.5|protein_coding|2/9|c.442-35_442-34dupCA||||||	GT:AD:DP:GQ:PL	0/1:3,8:11:48:204,0,48
chr1	112913924	rs1049434;130315	A	T	1736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1049434;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|SLC16A1|SLC16A1|transcript|NM_001166496.1|protein_coding|5/5|c.1470T>A|p.Asp490Glu|2302/4378|1470/1503|490/500||,T|missense_variant|MODERATE|SLC16A1|SLC16A1|transcript|NM_003051.3|protein_coding|5/5|c.1470T>A|p.Asp490Glu|1833/3909|1470/1503|490/500||;p3_1000G_AA=T|||;p3_1000G_AC=3389;p3_1000G_AF=0.676717;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=20043;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.5626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113456546;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5818;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3721,685;ESP6500_AA_AGE=288.9+/-280.1;ESP6500_AA_GTC=1561,599,43;ESP6500_CDS_SIZES=NM_003051.3:1503,NM_001166496.1:1503;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=202;ESP6500_EA_AC=4944,3656;ESP6500_EA_AGE=525.8+/-380.8;ESP6500_EA_GTC=1422,2100,778;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003051.3:missense,NM_001166496.1:missense;ESP6500_GL=SLC16A1;ESP6500_GRCh38_POSITION=1:112913924;ESP6500_GS=45,45;ESP6500_GTC=2983,2699,821;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_003051.3:c.1470T>A,NM_001166496.1:c.1470T>A;ESP6500_HGVS_PROTEIN_VAR=NM_003051.3:p.(D490E),NM_001166496.1:p.(D490E);ESP6500_MAF=42.5116,15.547,33.3769;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8665,4341;CLINVAR_ALLELEID=135762;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239341;CLINVAR_CLNDN=not_specified|Hyperinsulinism,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.112913924A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2056|UniProtKB_(protein):P53985#VAR_010436;CLINVAR_GENEINFO=SLC16A1:6566;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1049434	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1765,167,0
chr1	112918054	rs149491709;291868	CAATA	C	346.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs72299604,rs145504320,rs149491709;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|SLC16A1|SLC16A1|transcript|NM_001166496.1|protein_coding|3/4|c.362-14_362-11delTATT||||||,C|intron_variant|MODIFIER|SLC16A1|SLC16A1|transcript|NM_003051.3|protein_coding|3/4|c.362-14_362-11delTATT||||||;p3_1000G_AC=4392;p3_1000G_AF=0.876997;p3_1000G_AFR_AF=0.8169;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=11288;p3_1000G_EAS_AF=0.9187;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113460676;p3_1000G_GRCH37_REF=CAATA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=INDEL;ESP6500_AA_AC=232,172;ESP6500_AA_GTC=113,6,83;ESP6500_CDS_SIZES=NM_003051.3:1503,NM_001166496.1:1503;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=16;ESP6500_EA_AC=612,412;ESP6500_EA_GTC=298,16,198;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003051.3:intron,NM_001166496.1:intron;ESP6500_GL=SLC16A1;ESP6500_GRCh38_POSITION=1:112918054;ESP6500_GTC=411,22,281;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003051.3:c.362-14_362-11del4,NM_001166496.1:c.362-14_362-11del4;ESP6500_MAF=40.2344,42.5743,40.8964;ESP6500_TAC=844,584;CLINVAR_ALLELEID=276158;CLINVAR_CLNDISDB=MedGen:CN239341;CLINVAR_CLNDN=Hyperinsulinism,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.112918055_112918058delAATA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:495706;CLINVAR_GENEINFO=SLC16A1:6566;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=149491709	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:112918054_CAATA_C:384,30,0
chr1	112918065	rs201021807	T	G	355.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201021807;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|SLC16A1|SLC16A1|transcript|NM_001166496.1|protein_coding|3/4|c.362-21A>C||||||,G|intron_variant|MODIFIER|SLC16A1|SLC16A1|transcript|NM_003051.3|protein_coding|3/4|c.362-21A>C||||||;ESP6500_AA=T;ESP6500_AA_AC=2,4120;ESP6500_AA_GTC=0,2,2059;ESP6500_CDS_SIZES=NM_003051.3:1503,NM_001166496.1:1503;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=6;ESP6500_EA_AC=1,8179;ESP6500_EA_GTC=0,1,4089;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003051.3:intron,NM_001166496.1:intron;ESP6500_GL=SLC16A1;ESP6500_GRCh38_POSITION=1:112918065;ESP6500_GTC=0,3,6148;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003051.3:c.362-21A>C,NM_001166496.1:c.362-21A>C;ESP6500_MAF=0.0122,0.0485,0.0244;ESP6500_TAC=3,12299	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:112918054_CAATA_C:384,30,0
chr1	113094302	rs1216802	T	C	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.674;SOR=2.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1216802;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|LRIG2|LRIG2|transcript|NM_014813.2|protein_coding|4/17|c.516-37T>C||||||,C|intron_variant|MODIFIER|LRIG2|LRIG2|transcript|NM_001312686.1|protein_coding|5/18|c.207-37T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4244;p3_1000G_AF=0.847444;p3_1000G_AFR_AF=0.5045;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=14814;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113636924;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2686,1648;ESP6500_AA_GTC=814,1058,295;ESP6500_CDS_SIZES=NM_014813.1:3198;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=13;ESP6500_EA_AC=8435,115;ESP6500_EA_GTC=4161,113,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014813.1:intron;ESP6500_GL=LRIG2;ESP6500_GRCh38_POSITION=1:113094302;ESP6500_GTC=4975,1171,296;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014813.1:c.516-37T>C;ESP6500_MAF=1.345,38.0249,13.6836;ESP6500_TAC=11121,1763	GT:AD:DP:GQ:PL	0/1:3,3:6:68:102,0,68
chr1	113114470	rs1216793	A	C	845.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.3;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.211;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.79;ReadPosRankSum=-0.342;SOR=0.459;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1216793;dbSNPBuildID=87;ANN=C|synonymous_variant|LOW|LRIG2|LRIG2|transcript|NM_014813.2|protein_coding|15/18|c.2124A>C|p.Thr708Thr|2361/4536|2124/3198|708/1065||,C|synonymous_variant|LOW|LRIG2|LRIG2|transcript|NM_001312686.1|protein_coding|16/19|c.1815A>C|p.Thr605Thr|2473/4648|1815/2889|605/962||;p3_1000G_AA=C|||;p3_1000G_AC=4516;p3_1000G_AF=0.901757;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=17917;p3_1000G_EAS_AF=0.9504;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113657092;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3260,1146;ESP6500_AA_AGE=405.8+/-333.6;ESP6500_AA_GTC=1204,852,147;ESP6500_CDS_SIZES=NM_014813.1:3198;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=71;ESP6500_EA_AC=8486,114;ESP6500_EA_AGE=60.2+/-122.0;ESP6500_EA_GTC=4186,114,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014813.1:coding-synonymous;ESP6500_GL=LRIG2;ESP6500_GRCh38_POSITION=1:113114470;ESP6500_GTC=5390,966,147;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014813.1:c.2124A>C;ESP6500_HGVS_PROTEIN_VAR=NM_014813.1:p.(T708);ESP6500_MAF=1.3256,26.01,9.6878;ESP6500_TAC=11746,1260	GT:AD:DP:GQ:PL	0/1:17,28:45:99:874,0,362
chr1	113114611	rs41296184	T	G	1128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.56;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-1.367;SOR=0.731;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41296184;dbSNPBuildID=127;ANN=G|missense_variant|MODERATE|LRIG2|LRIG2|transcript|NM_014813.2|protein_coding|15/18|c.2265T>G|p.Asp755Glu|2502/4536|2265/3198|755/1065||,G|missense_variant|MODERATE|LRIG2|LRIG2|transcript|NM_001312686.1|protein_coding|16/19|c.1956T>G|p.Asp652Glu|2614/4648|1956/2889|652/962||;p3_1000G_AA=T|||;p3_1000G_AC=89;p3_1000G_AF=0.0177716;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=19619;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.0099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113657233;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=35,4371;ESP6500_AA_AGE=39.2+/-71.8;ESP6500_AA_GTC=0,35,2168;ESP6500_CDS_SIZES=NM_014813.1:3198;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=132;ESP6500_EA_AC=103,8497;ESP6500_EA_AGE=56.4+/-117.6;ESP6500_EA_GTC=0,103,4197;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014813.1:missense;ESP6500_GL=LRIG2;ESP6500_GRCh38_POSITION=1:113114611;ESP6500_GS=45;ESP6500_GTC=0,138,6365;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014813.1:c.2265T>G;ESP6500_HGVS_PROTEIN_VAR=NM_014813.1:p.(D755E);ESP6500_MAF=1.1977,0.7944,1.061;ESP6500_PH=benign:0.41;ESP6500_TAC=138,12868	GT:AD:DP:GQ:PL	0/1:53,42:95:99:1157,0,1401
chr1	113116265	rs1216791	G	A	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.159;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.078;SOR=0.906;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1216791;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|LRIG2|LRIG2|transcript|NM_014813.2|protein_coding|15/17|c.2531-22G>A||||||,A|intron_variant|MODIFIER|LRIG2|LRIG2|transcript|NM_001312686.1|protein_coding|16/18|c.2222-22G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3956;p3_1000G_AF=0.789936;p3_1000G_AFR_AF=0.5408;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=20752;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.8539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113658887;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2651,1755;ESP6500_AA_AGE=641.5+/-397.5;ESP6500_AA_GTC=791,1069,343;ESP6500_CDS_SIZES=NM_014813.1:3198;ESP6500_CG=1.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=35;ESP6500_EA_AC=7293,1307;ESP6500_EA_AGE=753.1+/-407.4;ESP6500_EA_GTC=3085,1123,92;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014813.1:intron;ESP6500_GL=LRIG2;ESP6500_GRCh38_POSITION=1:113116265;ESP6500_GTC=3876,2192,435;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014813.1:c.2531-22G>A;ESP6500_MAF=15.1977,39.832,23.543;ESP6500_TAC=9944,3062	GT:AD:DP:GQ:PL	0/1:32,18:50:99:482,0,1070
chr1	113116443	rs1335238686;rs398053355;rs10541977;rs201929988;260443	ACT	A	1743.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.601;ClippingRankSum=0;DP=116;ExcessHet=3.0103;FS=2.505;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.096;SOR=0.967;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10541977;dbSNPBuildID=151,136;ANN=A|intron_variant|MODIFIER|LRIG2|LRIG2|transcript|NM_014813.2|protein_coding|16/17|c.2680+10_2680+11delCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LRIG2|LRIG2|transcript|NM_001312686.1|protein_coding|17/18|c.2371+10_2371+11delCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3956;p3_1000G_AF=0.789936;p3_1000G_AFR_AF=0.5408;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=19531;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.8539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113659065;p3_1000G_GRCH37_REF=ACT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=2577,1689;ESP6500_AA_GTC=769,1039,325;ESP6500_CDS_SIZES=NM_014813.1:3198;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=86;ESP6500_EA_AC=7001,1253;ESP6500_EA_GTC=2958,1085,84;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014813.1:intron;ESP6500_GL=LRIG2;ESP6500_GRCh38_POSITION=1:113116443;ESP6500_GTC=3727,2124,409;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014813.1:c.2680+8_2680+9del2;ESP6500_MAF=15.1805,39.5921,23.4984;ESP6500_TAC=9578,2942;CLINVAR_ALLELEID=249366;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.113116446_113116447delCT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=LRIG2:9860;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=398053355	GT:AD:DP:GQ:PL	0/1:65,48:113:99:1781,0,2614
chr1	113119627	rs12568813	G	C	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.865;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=6.34;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.163;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12568813;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LRIG2|LRIG2|transcript|NM_014813.2|protein_coding|17/17|c.2971+104G>C||||||,C|intron_variant|MODIFIER|LRIG2|LRIG2|transcript|NM_001312686.1|protein_coding|18/18|c.2662+104G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1426;p3_1000G_AF=0.284744;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=20494;p3_1000G_EAS_AF=0.3611;p3_1000G_EUR_AF=0.3767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113662249;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4059;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,17:31:99:432,0,471
chr1	113590400	rs397981324;rs59211723;rs541107638	AT	A	116.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.852;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.175;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs59211723;dbSNPBuildID=134,138;ANN=A|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_001142782.1|protein_coding|4/20|c.764-77delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_152900.2|protein_coding|4/20|c.764-77delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3322;p3_1000G_AF=0.663339;p3_1000G_AFR_AF=0.7882;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18774;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.7495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114133022;p3_1000G_GRCH37_REF=AT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:5,6:11:99:154,0,122
chr1	113594391	rs3834733	C	CAT	120.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.15;ReadPosRankSum=0.524;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3834733;dbSNPBuildID=107;ANN=CAT|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_001142782.1|protein_coding|5/20|c.939-89_939-88dupAT||||||INFO_REALIGN_3_PRIME,CAT|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_152900.2|protein_coding|5/20|c.939-89_939-88dupAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3321;p3_1000G_AF=0.663139;p3_1000G_AFR_AF=0.7897;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=19493;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.7505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114137013;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,4:5:31:158,0,31
chr1	113618494	rs1217200	C	A	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.656;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.96;ReadPosRankSum=0.903;SOR=1.08;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1217200;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_001142782.1|protein_coding|7/20|c.1077-1242C>A||||||,A|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_152900.2|protein_coding|7/20|c.1077-1242C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3365;p3_1000G_AF=0.671925;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=17490;p3_1000G_EAS_AF=0.3621;p3_1000G_EUR_AF=0.7416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114161116;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,8:28:99:167,0,472
chr1	113619776	.	G	T	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.265;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.452;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=0.235;SOR=0.569;SNP;HET;VARTYPE=SNP;ANN=T|stop_gained|HIGH|MAGI3|MAGI3|transcript|NM_001142782.1|protein_coding|8/21|c.1117G>T|p.Glu373*|1298/6536|1117/4446|373/1481||,T|stop_gained|HIGH|MAGI3|MAGI3|transcript|NM_152900.2|protein_coding|8/21|c.1117G>T|p.Glu373*|1298/7221|1117/3378|373/1125||;LOF=(MAGI3|MAGI3|2|1.00);NMD=(MAGI3|MAGI3|2|1.00)	GT:AD:DP:GQ:PL	0/1:16,11:27:99:250,0,458
chr1	113659333	.	GCCT	G	16.82	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.755;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.215;SOR=0.105;DEL;HET;VARTYPE=DEL;ANN=G|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_001142782.1|protein_coding|16/20|c.2815+74_2815+76delTCC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_152900.2|protein_coding|16/20|c.2815+74_2815+76delTCC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,488
chr1	113682160	rs1336397776;rs561103566	AT	A	154.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.307;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.178;SOR=0.914;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151,142;ANN=A|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_001142782.1|protein_coding|20/20|c.3329-721delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAGI3|MAGI3|transcript|NM_152900.2|protein_coding|20/20|c.3329-36delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,9:12:81:142,0,81
chr1	113697697	rs3835263	T	TA	222.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.388;SOR=1.349;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3835263;dbSNPBuildID=107;ANN=TA|3_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323041.1|protein_coding|19/19|c.*7dupT|||||7|,TA|3_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_006608.2|protein_coding|18/18|c.*7dupT|||||7|,TA|3_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323043.1|protein_coding|19/19|c.*7dupT|||||7|,TA|3_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323044.1|protein_coding|19/19|c.*7dupT|||||7|,TA|3_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323045.1|protein_coding|20/20|c.*7dupT|||||7|,TA|3_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323046.1|protein_coding|16/16|c.*7dupT|||||7|,TA|3_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323042.1|protein_coding|19/19|c.*7dupT|||||7|,TA|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136564.1|pseudogene|21/21|n.3094dupT||||||,TA|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136565.1|pseudogene|19/19|n.2735dupT||||||,TA|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136566.1|pseudogene|20/20|n.3010dupT||||||,TA|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136567.1|pseudogene|20/20|n.2895dupT||||||;p3_1000G_AA=AA|A|AA|deletion;p3_1000G_AC=3396;p3_1000G_AF=0.678115;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=19498;p3_1000G_EAS_AF=0.3631;p3_1000G_EUR_AF=0.7406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114240319;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=INDEL;ESP6500_AA_AC=3589,677;ESP6500_AA_GTC=1511,567,55;ESP6500_CDS_SIZES=NM_006608.2:2289;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=87;ESP6500_EA_AC=6240,2014;ESP6500_EA_GTC=2374,1492,261;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006608.2:utr-3;ESP6500_GL=PHTF1;ESP6500_GRCh38_POSITION=1:113697697;ESP6500_GTC=3885,2059,316;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006608.2:c.*7_*8insT;ESP6500_MAF=24.4003,15.8697,21.4936;ESP6500_TAC=9829,2691	GT:AD:DP:GQ:PL	0/1:15,9:24:99:260,0,489
chr1	113698152	rs143096006;rs76883261;rs772499639	AACACACAC	A	291.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.27;SOR=3.442;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72150821,rs143096006,rs76883261;dbSNPBuildID=134,144,131;ANN=A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323041.1|protein_coding|18/18|c.2268+102_2268+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_006608.2|protein_coding|17/17|c.2268+102_2268+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323043.1|protein_coding|18/18|c.2268+102_2268+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323044.1|protein_coding|18/18|c.2142+102_2142+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323045.1|protein_coding|19/19|c.2142+102_2142+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323046.1|protein_coding|15/15|c.1410+102_1410+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136564.1|pseudogene|20/20|n.3066+102_3066+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136565.1|pseudogene|18/18|n.2707+102_2707+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136566.1|pseudogene|19/19|n.2982+102_2982+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136567.1|pseudogene|19/19|n.2867+102_2867+109delGTGTGTGT||||||,A|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323042.1|protein_coding|18/18|c.2268+102_2268+109delGTGTGTGT||||||	GT:AD:DP:GQ:PL	0/1:0,5:5:18:201,0,18
chr1	113706760	rs6698586	C	T	661.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.458;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=5.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.05;ReadPosRankSum=-0.822;SOR=0.08;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6698586;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323041.1|protein_coding|11/18|c.1270-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_006608.2|protein_coding|10/17|c.1270-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323043.1|protein_coding|11/18|c.1270-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323044.1|protein_coding|11/18|c.1144-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323045.1|protein_coding|12/19|c.1144-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323046.1|protein_coding|8/15|c.412-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136564.1|pseudogene|12/20|n.2017-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136565.1|pseudogene|10/18|n.1658-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136566.1|pseudogene|11/19|n.1933-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136567.1|pseudogene|11/19|n.1818-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323042.1|protein_coding|11/18|c.1270-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323047.1|protein_coding|11/14|c.1270-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323048.1|protein_coding|11/14|c.1270-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323049.1|protein_coding|10/13|c.1270-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323050.1|protein_coding|12/15|c.1144-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136568.1|pseudogene|11/14|n.1742-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323051.1|protein_coding|11/12|c.1144-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323052.1|protein_coding|11/12|c.1270-38G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323053.1|protein_coding|11/12|c.1270-38G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3402;p3_1000G_AF=0.679313;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=16376;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.7406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114249382;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3638,766;ESP6500_AA_GTC=1511,616,75;ESP6500_CDS_SIZES=NM_006608.2:2289;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=32;ESP6500_EA_AC=6491,2109;ESP6500_EA_GTC=2472,1547,281;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006608.2:intron;ESP6500_GL=PHTF1;ESP6500_GRCh38_POSITION=1:113706760;ESP6500_GTC=3983,2163,356;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006608.2:c.1270-38G>A;ESP6500_MAF=24.5233,17.3933,22.1086;ESP6500_TAC=10129,2875	GT:AD:DP:GQ:PL	0/1:10,23:33:99:690,0,328
chr1	113713206	rs17031795	T	C	60.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=-0.406;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17031795;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323041.1|protein_coding|8/18|c.783+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_006608.2|protein_coding|7/17|c.783+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323043.1|protein_coding|8/18|c.783+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323044.1|protein_coding|8/18|c.657+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323045.1|protein_coding|9/19|c.657+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323046.1|protein_coding|5/15|c.-75-1093A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136564.1|pseudogene|9/20|n.1530+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136565.1|pseudogene|7/18|n.1172-1093A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136566.1|pseudogene|8/19|n.1446+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136567.1|pseudogene|8/19|n.1331+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323042.1|protein_coding|8/18|c.783+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323047.1|protein_coding|8/14|c.783+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323048.1|protein_coding|8/14|c.783+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323049.1|protein_coding|7/13|c.783+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323050.1|protein_coding|9/15|c.657+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136568.1|pseudogene|8/14|n.1256-1093A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323051.1|protein_coding|8/12|c.657+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323052.1|protein_coding|8/12|c.783+73A>G||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323053.1|protein_coding|8/12|c.783+73A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=551;p3_1000G_AF=0.110024;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=15931;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.1382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114255828;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:89:89,0,242
chr1	113724725	rs1230640	C	T	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=1.61;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1230640;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323041.1|protein_coding|7/18|c.623+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_006608.2|protein_coding|6/17|c.623+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323043.1|protein_coding|7/18|c.623+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323044.1|protein_coding|7/18|c.497+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323045.1|protein_coding|8/19|c.497+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323046.1|protein_coding|5/15|c.-76+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136564.1|pseudogene|8/20|n.1370+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136565.1|pseudogene|7/18|n.1171+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136566.1|pseudogene|7/19|n.1286+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136567.1|pseudogene|7/19|n.1171+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323042.1|protein_coding|7/18|c.623+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323047.1|protein_coding|7/14|c.623+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323048.1|protein_coding|7/14|c.623+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323049.1|protein_coding|6/13|c.623+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323050.1|protein_coding|8/15|c.497+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136568.1|pseudogene|8/14|n.1255+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323051.1|protein_coding|7/12|c.497+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323052.1|protein_coding|7/12|c.623+34G>A||||||,T|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323053.1|protein_coding|7/12|c.623+34G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3523;p3_1000G_AF=0.703474;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=16290;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.7406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114267347;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3979,427;ESP6500_AA_AGE=204.1+/-226.4;ESP6500_AA_GTC=1798,383,22;ESP6500_CDS_SIZES=NM_006608.2:2289;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=62;ESP6500_EA_AC=6495,2105;ESP6500_EA_AGE=361.0+/-332.2;ESP6500_EA_GTC=2470,1555,275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006608.2:intron;ESP6500_GL=PHTF1;ESP6500_GRCh38_POSITION=1:113724725;ESP6500_GTC=4268,1938,297;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006608.2:c.623+34G>A;ESP6500_MAF=24.4767,9.6913,19.4679;ESP6500_TAC=10474,2532	GT:AD:DP:GQ:PL	0/1:3,5:8:66:165,0,66
chr1	113758514	rs200794989	CT	C	51.92	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.28;SOR=0.223;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200794989;dbSNPBuildID=137;ANN=C|downstream_gene_variant|MODIFIER|RSBN1|RSBN1|transcript|NM_018364.4|protein_coding||c.*7465delA|||||3317|,C|downstream_gene_variant|MODIFIER|RSBN1|RSBN1|transcript|NR_130896.1|pseudogene||n.*3317delA|||||3317|,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323041.1|protein_coding|2/18|c.45+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_006608.2|protein_coding|1/17|c.45+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323043.1|protein_coding|2/18|c.45+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323044.1|protein_coding|1/18|c.-166+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323045.1|protein_coding|2/19|c.-166+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323046.1|protein_coding|2/15|c.-425+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136564.1|pseudogene|2/20|n.708+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136565.1|pseudogene|2/18|n.593+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136566.1|pseudogene|2/19|n.708+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136567.1|pseudogene|2/19|n.593+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323042.1|protein_coding|2/18|c.45+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323047.1|protein_coding|2/14|c.45+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323048.1|protein_coding|2/14|c.45+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323049.1|protein_coding|1/13|c.45+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323050.1|protein_coding|2/15|c.-166+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136568.1|pseudogene|2/14|n.593+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323051.1|protein_coding|1/12|c.-166+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323052.1|protein_coding|2/12|c.45+144delA||||||,C|intron_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323053.1|protein_coding|2/12|c.45+144delA||||||	GT:AD:DP:GQ:PL	1/1:1,4:5:5:88,5,0
chr1	113758713	rs61817589	C	T	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.748;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-0.843;SOR=1.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61817589;dbSNPBuildID=129;ANN=T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323041.1|protein_coding|2/19|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_006608.2|protein_coding|1/18|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323043.1|protein_coding|2/19|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323044.1|protein_coding|1/19|c.-220G>A|||||19938|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323045.1|protein_coding|2/20|c.-220G>A|||||19938|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323046.1|protein_coding|2/16|c.-479G>A|||||46675|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323042.1|protein_coding|2/19|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323047.1|protein_coding|2/15|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323048.1|protein_coding|2/15|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323049.1|protein_coding|1/14|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323050.1|protein_coding|2/16|c.-220G>A|||||19938|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323051.1|protein_coding|1/13|c.-220G>A|||||19938|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323052.1|protein_coding|2/13|c.-10G>A|||||10|,T|5_prime_UTR_variant|MODIFIER|PHTF1|PHTF1|transcript|NM_001323053.1|protein_coding|2/13|c.-10G>A|||||10|,T|downstream_gene_variant|MODIFIER|RSBN1|RSBN1|transcript|NM_018364.4|protein_coding||c.*7267G>A|||||3119|,T|downstream_gene_variant|MODIFIER|RSBN1|RSBN1|transcript|NR_130896.1|pseudogene||n.*3119G>A|||||3119|,T|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136564.1|pseudogene|2/21|n.654G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136565.1|pseudogene|2/19|n.539G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136566.1|pseudogene|2/20|n.654G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136567.1|pseudogene|2/20|n.539G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|PHTF1|PHTF1|transcript|NR_136568.1|pseudogene|2/15|n.539G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1249;p3_1000G_AF=0.249401;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=14910;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.2376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114301335;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=219,4187;ESP6500_AA_AGE=129.4+/-166.1;ESP6500_AA_GTC=10,199,1994;ESP6500_CDS_SIZES=NM_006608.2:2289;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=59;ESP6500_EA_AC=1895,6705;ESP6500_EA_AGE=333.1+/-320.4;ESP6500_EA_GTC=227,1441,2632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006608.2:utr-5;ESP6500_GL=PHTF1;ESP6500_GRCh38_POSITION=1:113758713;ESP6500_GTC=237,1640,4626;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006608.2:c.-10G>A;ESP6500_MAF=22.0349,4.9705,16.254;ESP6500_TAC=2114,10892	GT:AD:DP:GQ:PL	0/1:25,18:43:99:432,0,664
chr1	113766550	rs1935836	C	T	334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.9;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1935836;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|RSBN1|RSBN1|transcript|NM_018364.4|protein_coding|6/6|c.1936-97G>A||||||,T|intron_variant|MODIFIER|RSBN1|RSBN1|transcript|NR_130896.1|pseudogene|7/7|n.2118-97G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3355;p3_1000G_AF=0.669928;p3_1000G_AFR_AF=0.3517;p3_1000G_AMR_AF=0.7421;p3_1000G_AN=5008;p3_1000G_DP=18978;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114309172;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:363,36,0
chr1	113797334	rs34169583;rs3838298	C	CTAAA	211.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.671;SOR=0.784;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34169583,rs3838298;dbSNPBuildID=126,107;ANN=CTAAA|intron_variant|MODIFIER|RSBN1|RSBN1|transcript|NM_018364.4|protein_coding|2/6|c.1377+28_1377+29insTTTA||||||,CTAAA|intron_variant|MODIFIER|RSBN1|RSBN1|transcript|NR_130896.1|pseudogene|2/7|n.1441+28_1441+29insTTTA||||||;p3_1000G_AC=3513;p3_1000G_AF=0.701478;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=18118;p3_1000G_EAS_AF=0.3968;p3_1000G_EUR_AF=0.7406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114339956;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=INDEL;ESP6500_AA_AC=3315,433;ESP6500_AA_GTC=1491,333,50;ESP6500_CDS_SIZES=NM_018364.3:2409;ESP6500_CG=2.0;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=19;ESP6500_EA_AC=5949,2017;ESP6500_EA_GTC=2277,1395,311;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018364.3:intron;ESP6500_GL=RSBN1;ESP6500_GRCh38_POSITION=1:113797334;ESP6500_GTC=3768,1728,361;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018364.3:c.1377+28_1377+29insTTTA;ESP6500_MAF=25.3201,11.5528,20.9151;ESP6500_TAC=9264,2450	GT:AD:DP:GQ:PL	0/1:15,7:22:99:249,0,898
chr1	113812032	rs3195954	T	C	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.26;SOR=1.549;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3195954;dbSNPBuildID=105;ANN=C|synonymous_variant|LOW|RSBN1|RSBN1|transcript|NM_018364.4|protein_coding|1/7|c.381A>G|p.Pro127Pro|445/6621|381/2409|127/802||,C|upstream_gene_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene||n.-580T>C|||||580|,C|downstream_gene_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_015967.6|protein_coding||c.*2873A>G|||||1779|,C|downstream_gene_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001193431.2|protein_coding||c.*2873A>G|||||1779|,C|downstream_gene_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001308297.1|protein_coding||c.*2873A>G|||||1779|,C|downstream_gene_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_012411.5|protein_coding||c.*2873A>G|||||1779|,C|non_coding_transcript_exon_variant|MODIFIER|RSBN1|RSBN1|transcript|NR_130896.1|pseudogene|1/8|n.445A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=610;p3_1000G_AF=0.121805;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=11529;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114354654;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=149,4053;ESP6500_AA_GTC=2,145,1954;ESP6500_CDS_SIZES=NM_018364.3:2409;ESP6500_CG=-4.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=21;ESP6500_EA_AC=1412,6854;ESP6500_EA_GTC=115,1182,2836;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018364.3:coding-synonymous;ESP6500_GL=RSBN1;ESP6500_GRCh38_POSITION=1:113812032;ESP6500_GTC=117,1327,4790;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018364.3:c.381A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018364.3:p.(P127);ESP6500_MAF=17.082,3.5459,12.5201;ESP6500_TAC=1561,10907	GT:AD:DP:GQ:PL	0/1:15,13:28:99:361,0,345
chr1	113812320	rs3789604	T	G	602.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.226;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-1.578;SOR=0.287;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3789604;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|RSBN1|RSBN1|transcript|NM_018364.4|protein_coding|1/7|c.93A>C|p.Arg31Arg|157/6621|93/2409|31/802||,G|upstream_gene_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene||n.-292T>G|||||292|,G|downstream_gene_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_015967.6|protein_coding||c.*2585A>C|||||1491|,G|downstream_gene_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001193431.2|protein_coding||c.*2585A>C|||||1491|,G|downstream_gene_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001308297.1|protein_coding||c.*2585A>C|||||1491|,G|downstream_gene_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_012411.5|protein_coding||c.*2585A>C|||||1491|,G|non_coding_transcript_exon_variant|MODIFIER|RSBN1|RSBN1|transcript|NR_130896.1|pseudogene|1/8|n.157A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=670;p3_1000G_AF=0.133786;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=12587;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114354942;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=350,4042;ESP6500_AA_GTC=13,324,1859;ESP6500_CDS_SIZES=NM_018364.3:2409;ESP6500_CG=-10.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=27;ESP6500_EA_AC=1581,7007;ESP6500_EA_GTC=145,1291,2858;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018364.3:coding-synonymous;ESP6500_GL=RSBN1;ESP6500_GRCh38_POSITION=1:113812320;ESP6500_GTC=158,1615,4717;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018364.3:c.93A>C;ESP6500_HGVS_PROTEIN_VAR=NM_018364.3:p.(R31);ESP6500_MAF=18.4094,7.969,14.8767;ESP6500_TAC=1931,11049	GT:AD:DP:GQ:PL	0/1:17,25:42:99:631,0,428
chr1	113829906	rs3761935	T	G	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.355;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3761935;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene|3/4|n.414+14434T>G||||||,G|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_015967.6|protein_coding|17/20|c.2134+43A>C||||||,G|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001193431.2|protein_coding|17/20|c.2050+43A>C||||||,G|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001308297.1|protein_coding|16/19|c.2062+43A>C||||||,G|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_012411.5|protein_coding|15/18|c.1969+43A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=668;p3_1000G_AF=0.133387;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=17038;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114372528;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=356,3982;ESP6500_AA_GTC=17,322,1830;ESP6500_CDS_SIZES=NM_015967.5:2424,NM_012411.4:2259,NM_001193431.1:2340;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=26;ESP6500_EA_AC=1608,6968;ESP6500_EA_GTC=155,1298,2835;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015967.5:intron,NM_012411.4:intron,NM_001193431.1:intron;ESP6500_GL=PTPN22;ESP6500_GRCh38_POSITION=1:113829906;ESP6500_GTC=172,1620,4665;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015967.5:c.2134+43A>C,NM_012411.4:c.1969+43A>C,NM_001193431.1:c.2050+43A>C;ESP6500_MAF=18.75,8.2065,15.2083;ESP6500_TAC=1964,10950	GT:AD:DP:GQ:PL	0/1:5,5:10:99:147,0,140
chr1	113834471	rs1599971	A	G	446.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.893;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=-0.953;SOR=1.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1599971;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene|3/4|n.414+18999A>G||||||,G|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_015967.6|protein_coding|14/20|c.1895-32T>C||||||,G|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001193431.2|protein_coding|14/20|c.1895-32T>C||||||,G|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001308297.1|protein_coding|13/19|c.1823-32T>C||||||,G|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_012411.5|protein_coding|12/18|c.1730-32T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3512;p3_1000G_AF=0.701278;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=20367;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.7406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114377093;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3937,467;ESP6500_AA_AGE=768.0+/-413.6;ESP6500_AA_GTC=1762,413,27;ESP6500_CDS_SIZES=NM_015967.5:2424,NM_012411.4:2259,NM_001193431.1:2340;ESP6500_CG=1.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=76;ESP6500_EA_AC=6501,2099;ESP6500_EA_AGE=712.2+/-405.9;ESP6500_EA_GTC=2476,1549,275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015967.5:intron,NM_012411.4:intron,NM_001193431.1:intron;ESP6500_GL=PTPN22;ESP6500_GRCh38_POSITION=1:113834471;ESP6500_GTC=4238,1962,302;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015967.5:c.1895-32T>C,NM_012411.4:c.1730-32T>C,NM_001193431.1:c.1895-32T>C;ESP6500_MAF=24.407,10.604,19.7324;ESP6500_TAC=10438,2566	GT:AD:DP:GQ:PL	0/1:8,16:24:99:475,0,151
chr1	113834946	rs2476601	A	G	775.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2476601;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|PTPN22|PTPN22|transcript|NM_015967.6|protein_coding|14/21|c.1858T>C|p.Trp620Arg|1994/3654|1858/2424|620/807||,G|missense_variant|MODERATE|PTPN22|PTPN22|transcript|NM_001193431.2|protein_coding|14/21|c.1858T>C|p.Trp620Arg|1994/3570|1858/2340|620/779||,G|missense_variant|MODERATE|PTPN22|PTPN22|transcript|NM_001308297.1|protein_coding|13/20|c.1786T>C|p.Trp596Arg|1922/3582|1786/2352|596/783||,G|missense_variant|MODERATE|PTPN22|PTPN22|transcript|NM_012411.5|protein_coding|12/19|c.1693T>C|p.Trp565Arg|1829/3489|1693/2259|565/752||,G|intron_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene|3/4|n.414+19474A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4871;p3_1000G_AF=0.972644;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=15812;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114377568;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4326,80;ESP6500_AA_AGE=69.8+/-107.6;ESP6500_AA_GTC=2123,80,0;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...26191&amp%3Brs...2476601|http://www.ncbi.nlm.nih.gov/omim/124092,600716|http://omim.org/entry/600716#0001|http://www.ncbi.nlm.nih.gov/pubmed?term...17554260,17632545,17804836,18587394,19430480,19503088,20410501,20453842,21102463,21829393,23055271;ESP6500_CDS_SIZES=NM_015967.5:2424,NM_012411.4:2259,NM_001193431.1:2340;ESP6500_CG=2.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=123;ESP6500_EA_AC=7791,809;ESP6500_EA_AGE=188.0+/-235.1;ESP6500_EA_GTC=3531,729,40;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015967.5:missense,NM_012411.4:missense,NM_001193431.1:missense;ESP6500_GL=PTPN22;ESP6500_GRCh38_POSITION=1:113834946;ESP6500_GS=101,101,101;ESP6500_GTC=5654,809,40;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...17554260,17632545,17804836,18587394,19430480,19503088,20410501,20453842,21102463,21829393,23055271;ESP6500_HGVS_CDNA_VAR=NM_015967.5:c.1858T>C,NM_012411.4:c.1693T>C,NM_001193431.1:c.1858T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015967.5:p.(W620R),NM_012411.4:p.(W565R),NM_001193431.1:p.(W620R);ESP6500_MAF=9.407,1.8157,6.8353;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12117,889	GT:AD:DP:GQ:PL	1/1:0,25:25:75:804,75,0
chr1	113859184	rs762707045;rs770181121	G	GTGAA	299.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.432;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.598;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.63;ReadPosRankSum=-1.733;SOR=1.255;INS;HET;VARTYPE=INS;dbSNPBuildID=144,144;ANN=GTGAA|intron_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene|3/4|n.415-38662_415-38659dupGAAT||||||INFO_REALIGN_3_PRIME,GTGAA|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_015967.6|protein_coding|2/20|c.197-110_197-107dupTTCA||||||,GTGAA|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001193431.2|protein_coding|2/20|c.197-110_197-107dupTTCA||||||,GTGAA|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_001308297.1|protein_coding|2/19|c.197-110_197-107dupTTCA||||||,GTGAA|intron_variant|MODIFIER|PTPN22|PTPN22|transcript|NM_012411.5|protein_coding|2/18|c.197-110_197-107dupTTCA||||||,GTGAA|intron_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_037864.1|pseudogene|3/4|n.246+1190_246+1193dupGAAT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,9:17:99:337,0,396
chr1	113881979	rs1217381	C	T	1884.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.07;SOR=2.262;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1217381;dbSNPBuildID=87;ANN=T|missense_variant|MODERATE|BCL2L15|BCL2L15|transcript|NM_001010922.2|protein_coding|3/4|c.268G>A|p.Asp90Asn|440/4973|268/492|90/163||,T|intron_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene|3/4|n.415-15889C>T||||||,T|intron_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_037864.1|pseudogene|3/4|n.247-15889C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19939;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114424601;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4405,1;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=2202,1,0;ESP6500_CDS_SIZES=NM_001010922.2:492;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=54;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001010922.2:missense;ESP6500_GL=BCL2L15;ESP6500_GRCh38_POSITION=1:113881979;ESP6500_GS=23;ESP6500_GTC=6501,2,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001010922.2:c.268G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001010922.2:p.(D90N);ESP6500_MAF=0.0116,0.0227,0.0154;ESP6500_PH=benign:0.001;ESP6500_TAC=13004,2	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1913,171,0
chr1	113900413	rs3789613;157725	C	G	489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3789613;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_022836.3|protein_coding||c.-5174C>G|||||4880|,G|upstream_gene_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319947.1|protein_coding||c.-7619C>G|||||4206|,G|upstream_gene_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319946.1|protein_coding||c.-7619C>G|||||4880|,G|intron_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253852.2|protein_coding|4/9|c.618-13G>C||||||,G|intron_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001308312.1|protein_coding|1/6|c.114-13G>C||||||,G|intron_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253853.2|protein_coding|5/10|c.321-13G>C||||||,G|intron_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_006594.4|protein_coding|5/10|c.618-13G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene|5/5|n.1078C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_037864.1|pseudogene|5/5|n.910C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1831;p3_1000G_AF=0.365615;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=20339;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.3748;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114443035;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=601,3805;ESP6500_AA_AGE=753.8+/-412.4;ESP6500_AA_GTC=46,509,1648;ESP6500_CDS_SIZES=NM_006594.3:2220,NM_001253853.1:1923,NM_001253852.1:2220;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=34;ESP6500_EA_AC=3131,5469;ESP6500_EA_AGE=644.2+/-400.0;ESP6500_EA_GTC=570,1991,1739;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006594.3:intron,NM_001253853.1:intron,NM_001253852.1:intron;ESP6500_GL=AP4B1;ESP6500_GRCh38_POSITION=1:113900413;ESP6500_GTC=616,2500,3387;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006594.3:c.618-13G>C,NM_001253853.1:c.321-13G>C,NM_001253852.1:c.618-13G>C;ESP6500_MAF=36.407,13.6405,28.6944;ESP6500_TAC=3732,9274;CLINVAR_AF_ESP=0.2869;CLINVAR_AF_EXAC=0.37573;CLINVAR_AF_TGP=0.3656;CLINVAR_ALLELEID=167573;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.113900413C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AP4B1:10717|AP4B1-AS1:100287722;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3789613	GT:AD:DP:GQ:PL	1/1:0,13:13:39:518,39,0
chr1	113905767	rs11552449	C	T	2577.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.29;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11552449;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|DCLRE1B|DCLRE1B|transcript|NM_022836.3|protein_coding|1/4|c.181C>T|p.His61Tyr|475/3788|181/1599|61/532||,T|5_prime_UTR_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319947.1|protein_coding|2/4|c.-32C>T|||||2265|,T|5_prime_UTR_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319946.1|protein_coding|1/3|c.-32C>T|||||2265|,T|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253852.2|protein_coding||c.-1050G>A|||||844|,T|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001308312.1|protein_coding||c.-1050G>A|||||844|,T|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253853.2|protein_coding||c.-3089G>A|||||643|,T|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_006594.4|protein_coding||c.-1050G>A|||||643|,T|downstream_gene_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_125965.1|pseudogene||n.*4530C>T|||||4530|,T|downstream_gene_variant|MODIFIER|AP4B1-AS1|AP4B1-AS1|transcript|NR_037864.1|pseudogene||n.*4530C>T|||||4530|;p3_1000G_AA=C|||;p3_1000G_AC=1213;p3_1000G_AF=0.242212;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=16208;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.1909;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114448389;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1462;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=185,4221;ESP6500_AA_AGE=116.7+/-154.6;ESP6500_AA_GTC=9,167,2027;ESP6500_CDS_SIZES=NM_022836.3:1599;ESP6500_CG=3.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=1495,7105;ESP6500_EA_AGE=282.5+/-295.6;ESP6500_EA_GTC=130,1235,2935;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022836.3:missense;ESP6500_GL=DCLRE1B;ESP6500_GRCh38_POSITION=1:113905767;ESP6500_GS=83;ESP6500_GTC=139,1402,4962;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022836.3:c.181C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022836.3:p.(H61Y);ESP6500_MAF=17.3837,4.1988,12.9171;ESP6500_PH=benign:0.136;ESP6500_TAC=1680,11326	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2606,263,0
chr1	113907040	rs3761936	T	C	2440.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=0.92;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3761936;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|DCLRE1B|DCLRE1B|transcript|NM_022836.3|protein_coding|2/4|c.234T>C|p.His78His|528/3788|234/1599|78/532||,C|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253852.2|protein_coding||c.-2323A>G|||||2117|,C|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001308312.1|protein_coding||c.-2323A>G|||||2117|,C|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253853.2|protein_coding||c.-4362A>G|||||1916|,C|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_006594.4|protein_coding||c.-2323A>G|||||1916|,C|intron_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319947.1|protein_coding|2/3|c.-23-969T>C||||||,C|intron_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319946.1|protein_coding|1/2|c.-23-969T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1219;p3_1000G_AF=0.243411;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=16672;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114449662;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=185,4221;ESP6500_AA_AGE=116.7+/-154.6;ESP6500_AA_GTC=9,167,2027;ESP6500_CDS_SIZES=NM_022836.3:1599;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=235;ESP6500_EA_AC=1500,7100;ESP6500_EA_AGE=284.0+/-296.4;ESP6500_EA_GTC=130,1240,2930;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022836.3:coding-synonymous;ESP6500_GL=DCLRE1B;ESP6500_GRCh38_POSITION=1:113907040;ESP6500_GTC=139,1407,4957;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022836.3:c.234T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022836.3:p.(H78);ESP6500_MAF=17.4419,4.1988,12.9556;ESP6500_TAC=1685,11321	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2469,228,0
chr1	113907204	rs770737743	GTTTTTT	G	507.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=2.584;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253852.2|protein_coding||c.-2493_-2488delAAAAAA|||||2282|,G|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001308312.1|protein_coding||c.-2493_-2488delAAAAAA|||||2282|,G|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253853.2|protein_coding||c.-4532_-4527delAAAAAA|||||2081|,G|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_006594.4|protein_coding||c.-2493_-2488delAAAAAA|||||2081|,G|intron_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_022836.3|protein_coding|2/3|c.355+68_355+73delTTTTTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319947.1|protein_coding|2/3|c.-23-780_-23-775delTTTTTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319946.1|protein_coding|1/2|c.-23-780_-23-775delTTTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:113907204_GTTTTTT_G:545,48,0
chr1	113907213	rs768197482	T	A	516.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253852.2|protein_coding||c.-2496A>T|||||2290|,A|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001308312.1|protein_coding||c.-2496A>T|||||2290|,A|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_001253853.2|protein_coding||c.-4535A>T|||||2089|,A|upstream_gene_variant|MODIFIER|AP4B1|AP4B1|transcript|NM_006594.4|protein_coding||c.-2496A>T|||||2089|,A|intron_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_022836.3|protein_coding|2/3|c.355+52T>A||||||,A|intron_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319947.1|protein_coding|2/3|c.-23-796T>A||||||,A|intron_variant|MODIFIER|DCLRE1B|DCLRE1B|transcript|NM_001319946.1|protein_coding|1/2|c.-23-796T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:113907204_GTTTTTT_G:545,48,0
chr1	113973095	rs2358996	G	A	1488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.19;SOR=0.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2358996;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|HIPK1|HIPK1|transcript|NM_198268.2|protein_coding|16/16|c.3216G>A|p.Ala1072Ala|3377/8151|3216/3633|1072/1210||,A|synonymous_variant|LOW|HIPK1|HIPK1|transcript|NM_198269.2|protein_coding|15/15|c.2094G>A|p.Ala698Ala|2288/7062|2094/2511|698/836||,A|synonymous_variant|LOW|HIPK1|HIPK1|transcript|NM_181358.2|protein_coding|14/14|c.2034G>A|p.Ala678Ala|2097/6871|2034/2451|678/816||,A|downstream_gene_variant|MODIFIER|HIPK1|HIPK1|transcript|NM_152696.3|protein_coding||c.*1057G>A|||||1019|;p3_1000G_AA=G|||;p3_1000G_AC=2435;p3_1000G_AF=0.486222;p3_1000G_AFR_AF=0.5469;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=14415;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.4314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114515717;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2246,2160;ESP6500_AA_AGE=593.3+/-388.0;ESP6500_AA_GTC=575,1096,532;ESP6500_CDS_SIZES=NM_198269.2:2511,NM_198268.2:3633,NM_181358.2:2451;ESP6500_CG=-0.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=93;ESP6500_EA_AC=3576,5024;ESP6500_EA_AGE=518.0+/-379.2;ESP6500_EA_GTC=764,2048,1488;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198269.2:coding-synonymous,NM_198268.2:coding-synonymous,NM_181358.2:coding-synonymous;ESP6500_GL=HIPK1;ESP6500_GRCh38_POSITION=1:113973095;ESP6500_GTC=1339,3144,2020;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198269.2:c.2094G>A,NM_198268.2:c.3216G>A,NM_181358.2:c.2034G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198269.2:p.(A698),NM_198268.2:p.(A1072),NM_181358.2:p.(A678);ESP6500_MAF=41.5814,49.0241,44.764;ESP6500_TAC=5822,7184	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,51:51:99:1|1:113973095_G_A:1517,151,0
chr1	114093793	rs200158005	C	A	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.598;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.61;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200158005;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|SYT6|SYT6|transcript|NM_001270805.1|protein_coding|7/8|c.1271G>T|p.Arg424Leu|1521/4370|1271/1278|424/425||,A|missense_variant|MODERATE|SYT6|SYT6|transcript|NM_205848.3|protein_coding|7/8|c.1271G>T|p.Arg424Leu|1503/4352|1271/1278|424/425||;p3_1000G_AA=C|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21197;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114636415;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,14:26:99:380,0,274
chr1	114099063	rs2774285	A	G	666.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=0.464;SOR=0.682;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2774285;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SYT6|SYT6|transcript|NM_001270805.1|protein_coding|5/7|c.1109+31T>C||||||,G|intron_variant|MODIFIER|SYT6|SYT6|transcript|NM_205848.3|protein_coding|5/7|c.1109+31T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4296;p3_1000G_AF=0.857827;p3_1000G_AFR_AF=0.9652;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=20317;p3_1000G_EAS_AF=0.9325;p3_1000G_EUR_AF=0.7396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114641685;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4061,345;ESP6500_AA_AGE=179.7+/-208.2;ESP6500_AA_GTC=1875,311,17;ESP6500_CDS_SIZES=NM_205848.3:1278,NM_001253772.1:1533;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=113;ESP6500_EA_AC=6527,2073;ESP6500_EA_AGE=359.1+/-331.4;ESP6500_EA_GTC=2464,1599,237;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205848.3:intron,NM_001253772.1:intron;ESP6500_GL=SYT6;ESP6500_GRCh38_POSITION=1:114099063;ESP6500_GTC=4339,1910,254;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_205848.3:c.1109+31T>C,NM_001253772.1:c.1364+31T>C;ESP6500_MAF=24.1047,7.8302,18.5914;ESP6500_TAC=10588,2418	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,23:39:99:1|0:114099053_A_G:695,0,467
chr1	114137918	rs17032441	C	T	1382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.387;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=2.429;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.379;SOR=0.95;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17032441;dbSNPBuildID=123;ANN=T|sequence_feature|MODERATE|SYT6|SYT6|modified-residue:phosphoserine|NM_205848.3|protein_coding|3/8|c.393G>A||||||,T|synonymous_variant|LOW|SYT6|SYT6|transcript|NM_001270805.1|protein_coding|3/8|c.393G>A|p.Ser131Ser|643/4370|393/1278|131/425||,T|synonymous_variant|LOW|SYT6|SYT6|transcript|NM_205848.3|protein_coding|3/8|c.393G>A|p.Ser131Ser|625/4352|393/1278|131/425||;p3_1000G_AA=c|||;p3_1000G_AC=1040;p3_1000G_AF=0.207668;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=21878;p3_1000G_EAS_AF=0.2579;p3_1000G_EUR_AF=0.2078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114680540;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=836,3570;ESP6500_AA_AGE=331.5+/-302.0;ESP6500_AA_GTC=74,688,1441;ESP6500_CDS_SIZES=NM_205848.3:1278,NM_001253772.1:1533;ESP6500_CG=-10.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=106;ESP6500_EA_AC=1817,6783;ESP6500_EA_AGE=327.6+/-317.9;ESP6500_EA_GTC=191,1435,2674;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205848.3:coding-synonymous,NM_001253772.1:coding-synonymous;ESP6500_GL=SYT6;ESP6500_GRCh38_POSITION=1:114137918;ESP6500_GTC=265,2123,4115;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_205848.3:c.393G>A,NM_001253772.1:c.648G>A;ESP6500_HGVS_PROTEIN_VAR=NM_205848.3:p.(S131),NM_001253772.1:p.(S216);ESP6500_MAF=21.1279,18.9741,20.3983;ESP6500_TAC=2653,10353	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1411,0,1586
chr1	114398010	rs397981357;rs573450786;rs5777192	CA	C	251.75	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.89;ReadPosRankSum=0.267;SOR=0.941;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5777192;dbSNPBuildID=134,142,138;ANN=C|intron_variant|MODIFIER|TRIM33|TRIM33|transcript|NM_015906.3|protein_coding|18/19|c.3121-21delT||||||,C|intron_variant|MODIFIER|TRIM33|TRIM33|transcript|NM_033020.2|protein_coding|18/18|c.3121-151delT||||||	GT:AD:DP:GQ:PL	1/1:1,10:11:11:276,11,0
chr1	114405659	rs6537825	A	G	1086.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.453;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=3.2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.39;SOR=1.091;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6537825;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|TRIM33|TRIM33|transcript|NM_015906.3|protein_coding|15/20|c.2519T>C|p.Ile840Thr|2603/8339|2519/3384|840/1127||,G|missense_variant|MODERATE|TRIM33|TRIM33|transcript|NM_033020.2|protein_coding|15/19|c.2519T>C|p.Ile840Thr|2603/8288|2519/3333|840/1110||;p3_1000G_AA=G|||;p3_1000G_AC=4289;p3_1000G_AF=0.85643;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=19085;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.9364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114948281;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4280,126;ESP6500_AA_AGE=92.5+/-131.2;ESP6500_AA_GTC=2082,116,5;ESP6500_CDS_SIZES=NM_033020.2:3333,NM_015906.3:3384;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=137;ESP6500_EA_AC=7976,624;ESP6500_EA_AGE=162.7+/-215.4;ESP6500_EA_GTC=3704,568,28;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033020.2:missense,NM_015906.3:missense;ESP6500_GL=TRIM33;ESP6500_GRCh38_POSITION=1:114405659;ESP6500_GS=89,89;ESP6500_GTC=5786,684,33;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033020.2:c.2519T>C,NM_015906.3:c.2519T>C;ESP6500_HGVS_PROTEIN_VAR=NM_033020.2:p.(I840T),NM_015906.3:p.(I840T);ESP6500_MAF=7.2558,2.8597,5.7666;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12256,750	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1115,0,807
chr1	114568062	rs8128	A	C	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.11;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.656;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8128;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|BCAS2|BCAS2|transcript|NM_005872.2|protein_coding|7/7|c.*68T>G|||||68|;p3_1000G_AA=C|||;p3_1000G_AC=2354;p3_1000G_AF=0.470048;p3_1000G_AFR_AF=0.4788;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=17273;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115110683;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,20:39:99:499,0,456
chr1	114576771	rs41274118	T	C	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.231;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=0.623;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41274118;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|BCAS2|BCAS2|transcript|NM_005872.2|protein_coding|2/6|c.187-13A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=859;p3_1000G_AF=0.171526;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=17293;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.1332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115119392;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=182,4224;ESP6500_AA_AGE=110.8+/-149.0;ESP6500_AA_GTC=3,176,2024;ESP6500_CDS_SIZES=NM_005872.2:678;ESP6500_CG=4.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=51;ESP6500_EA_AC=1218,7380;ESP6500_EA_AGE=240.8+/-271.4;ESP6500_EA_GTC=83,1052,3164;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005872.2:intron;ESP6500_GL=BCAS2;ESP6500_GRCh38_POSITION=1:114576771;ESP6500_GTC=86,1228,5188;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005872.2:c.187-13A>G;ESP6500_MAF=14.1661,4.1307,10.7659;ESP6500_TAC=1400,11604	GT:AD:DP:GQ:PL	0/1:8,7:15:99:166,0,209
chr1	114585466	rs222493	A	G	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.424;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs222493;dbSNPBuildID=79;ANN=G|3_prime_UTR_variant|MODIFIER|DENND2C|DENND2C|transcript|NM_001256404.1|protein_coding|21/21|c.*134T>C|||||134|,G|3_prime_UTR_variant|MODIFIER|DENND2C|DENND2C|transcript|NM_198459.3|protein_coding|18/18|c.*134T>C|||||134|,G|upstream_gene_variant|MODIFIER|BCAS2|BCAS2|transcript|NM_005872.2|protein_coding||c.-3875T>C|||||3822|;p3_1000G_AA=G|||;p3_1000G_AC=4148;p3_1000G_AF=0.828275;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=17650;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.8668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115128087;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:182,0,217
chr1	114602082	rs28398	A	G	2142.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.418;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28398;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|DENND2C|DENND2C|transcript|NM_001256404.1|protein_coding|12/20|c.1737+43T>C||||||,G|intron_variant|MODIFIER|DENND2C|DENND2C|transcript|NM_198459.3|protein_coding|9/17|c.1566+43T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19844;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115144703;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4395,11;ESP6500_AA_AGE=17.9+/-39.9;ESP6500_AA_GTC=2192,11,0;ESP6500_CDS_SIZES=NM_198459.3:2616,NM_001256404.1:2787;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=58;ESP6500_EA_AC=8513,87;ESP6500_EA_AGE=49.8+/-109.6;ESP6500_EA_GTC=4215,83,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198459.3:intron,NM_001256404.1:intron;ESP6500_GL=DENND2C;ESP6500_GRCh38_POSITION=1:114602082;ESP6500_GTC=6407,94,2;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198459.3:c.1566+43T>C,NM_001256404.1:c.1737+43T>C;ESP6500_MAF=1.0116,0.2497,0.7535;ESP6500_TAC=12908,98	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2171,209,0
chr1	114625476	rs12136548	T	C	1190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.78;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.144;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=0.383;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12136548;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|DENND2C|DENND2C|transcript|NM_001256404.1|protein_coding|4/21|c.509A>G|p.Asp170Gly|1211/4514|509/2787|170/928||,C|missense_variant|MODERATE|DENND2C|DENND2C|transcript|NM_198459.3|protein_coding|2/18|c.509A>G|p.Asp170Gly|842/3974|509/2616|170/871||;p3_1000G_AA=T|||;p3_1000G_AC=629;p3_1000G_AF=0.125599;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=18049;p3_1000G_EAS_AF=0.0873;p3_1000G_EUR_AF=0.2913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115168097;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=318,4088;ESP6500_AA_AGE=162.2+/-194.2;ESP6500_AA_GTC=12,294,1897;ESP6500_CDS_SIZES=NM_198459.3:2616,NM_001256404.1:2787;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=60;ESP6500_EA_AC=2567,6033;ESP6500_EA_AGE=407.0+/-349.0;ESP6500_EA_GTC=377,1813,2110;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198459.3:missense,NM_001256404.1:missense;ESP6500_GL=DENND2C;ESP6500_GRCh38_POSITION=1:114625476;ESP6500_GS=94,94;ESP6500_GTC=389,2107,4007;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198459.3:c.509A>G,NM_001256404.1:c.509A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198459.3:p.(D170G),NM_001256404.1:p.(D170G);ESP6500_MAF=29.8488,7.2174,22.1821;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=2885,10121	GT:AD:DP:GQ:PL	0/1:26,40:66:99:1219,0,617
chr1	114677465	rs121912682;18273	C	T	557.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.737;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.552;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.77;SOR=1.164;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs121912682;dbSNPBuildID=133;ANN=T|missense_variant|MODERATE|AMPD1|AMPD1|transcript|NM_000036.2|protein_coding|10/16|c.1373G>A|p.Arg458His|1421/2406|1373/2343|458/780||,T|missense_variant|MODERATE|AMPD1|AMPD1|transcript|NM_001172626.1|protein_coding|9/15|c.1361G>A|p.Arg454His|1409/2394|1361/2331|454/776||;p3_1000G_AA=C|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16578;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115220086;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00077;CLINVAR_AF_TGP=0.0022;CLINVAR_ALLELEID=33312;CLINVAR_CLNDISDB=MedGen:C0268123,OMIM:615511,SNOMED_CT:9105005|MedGen:CN169374;CLINVAR_CLNDN=Muscle_AMP_deaminase_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.114677465C>T;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Likely_pathogenic(1),Pathogenic(1),Uncertain_significance(1);CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:102770.0003|UniProtKB_(protein):P23109#VAR_013272;CLINVAR_GENEINFO=AMPD1:270;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=121912682	GT:AD:DP:GQ:PL	0/1:23,24:47:99:586,0,612
chr1	114677799	rs543962875;rs546734761;rs61401956	CTCCT	C	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs61401956;dbSNPBuildID=142,142,129;ANN=C|intron_variant|MODIFIER|AMPD1|AMPD1|transcript|NM_000036.2|protein_coding|9/15|c.1323+107_1323+110delAGGA||||||,C|intron_variant|MODIFIER|AMPD1|AMPD1|transcript|NM_001172626.1|protein_coding|8/14|c.1311+107_1311+110delAGGA||||||;p3_1000G_AC=3360;p3_1000G_AF=0.670927;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=11732;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.4732;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115220420;p3_1000G_GRCH37_REF=CTCCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0
chr1	114714048	rs969273	G	A	190.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs969273;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|CSDE1|CSDE1|transcript|NM_001242891.1|protein_coding||c.*4121C>T|||||2865|,A|downstream_gene_variant|MODIFIER|CSDE1|CSDE1|transcript|NM_001007553.2|protein_coding||c.*4121C>T|||||2865|,A|downstream_gene_variant|MODIFIER|CSDE1|CSDE1|transcript|NM_001130523.2|protein_coding||c.*4121C>T|||||2865|,A|downstream_gene_variant|MODIFIER|CSDE1|CSDE1|transcript|NM_001242892.1|protein_coding||c.*4121C>T|||||2865|,A|downstream_gene_variant|MODIFIER|CSDE1|CSDE1|transcript|NM_001242893.1|protein_coding||c.*4121C>T|||||2865|,A|downstream_gene_variant|MODIFIER|CSDE1|CSDE1|transcript|NM_007158.5|protein_coding||c.*4121C>T|||||2865|,A|intron_variant|MODIFIER|NRAS|NRAS|transcript|NM_002524.4|protein_coding|2/6|c.112-70C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4383;p3_1000G_AF=0.8752;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=14664;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.67;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115256669;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:219,18,0
chr1	114774376	rs142475097	GA	G	365.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.694;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.29;SOR=0.99;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs142475097;dbSNPBuildID=134;ANN=G|splice_region_variant&intron_variant|LOW|SIKE1|SIKE1|transcript|NM_001102396.1|protein_coding|4/4|c.535-5delT||||||,G|splice_region_variant&intron_variant|LOW|SIKE1|SIKE1|transcript|NM_025073.2|protein_coding|4/4|c.523-5delT||||||,G|splice_region_variant&intron_variant|LOW|SIKE1|SIKE1|transcript|NR_049741.1|pseudogene|4/4|n.665-5delT||||||,G|splice_region_variant&intron_variant|LOW|SIKE1|SIKE1|transcript|NR_049742.1|pseudogene|3/3|n.497-5delT||||||;p3_1000G_AA=AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion;p3_1000G_AC=318;p3_1000G_AF=0.0634984;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18114;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115316997;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=INDEL;ESP6500_AA_AC=32,4234;ESP6500_AA_GTC=0,32,2101;ESP6500_CDS_SIZES=NM_025073.2:624,NM_001102396.1:636;ESP6500_CG=-5.8;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=69;ESP6500_EA_AC=60,8194;ESP6500_EA_GTC=1,58,4068;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025073.2:intron,NM_001102396.1:intron;ESP6500_GL=SIKE1;ESP6500_GRCh38_POSITION=1:114774376;ESP6500_GTC=1,90,6169;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025073.2:c.523-5del1,NM_001102396.1:c.535-5del1;ESP6500_MAF=0.7269,0.7501,0.7348;ESP6500_TAC=92,12428	GT:AD:DP:GQ:PL	0/1:10,16:26:99:403,0,212
chr1	114855423	rs397981387;rs60659641	GC	G	210.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.34;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60659641;dbSNPBuildID=134,138;ANN=G|splice_region_variant&intron_variant|LOW|SYCP1|SYCP1|transcript|NM_001282541.1|protein_coding|1/31|c.-27-8delC||||||INFO_REALIGN_3_PRIME,G|splice_region_variant&intron_variant|LOW|SYCP1|SYCP1|transcript|NM_001282542.1|protein_coding|1/30|c.-27-8delC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_003176.3|protein_coding|1/31|c.-24-11delC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NR_104211.1|pseudogene|1/32|n.217-11delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCCCCC|CCCCCCC|CCCCCC|insertion;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18267;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115398044;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4222,40;ESP6500_AA_GTC=2092,38,1;ESP6500_CDS_SIZES=NM_003176.2:2931;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=39;ESP6500_EA_AC=8200,52;ESP6500_EA_GTC=4074,52,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003176.2:intron;ESP6500_GL=SYCP1;ESP6500_GRCh38_POSITION=1:114855423;ESP6500_GTC=6166,90,1;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003176.2:c.-41del1;ESP6500_MAF=0.6302,0.9385,0.7352;ESP6500_TAC=12422,92	GT:AD:DP:GQ:PL	1/1:0,8:8:24:248,24,0
chr1	114857319	rs360614	T	G	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.34;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs360614;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_001282541.1|protein_coding|4/31|c.237+44T>G||||||,G|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_001282542.1|protein_coding|4/30|c.237+44T>G||||||,G|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_003176.3|protein_coding|4/31|c.237+44T>G||||||,G|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NR_104211.1|pseudogene|4/32|n.477+44T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1657;p3_1000G_AF=0.330871;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=14568;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.4076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115399940;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=789,3617;ESP6500_AA_AGE=313.3+/-293.0;ESP6500_AA_GTC=64,661,1478;ESP6500_CDS_SIZES=NM_003176.2:2931;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=42;ESP6500_EA_AC=3674,4922;ESP6500_EA_AGE=518.3+/-379.2;ESP6500_EA_GTC=777,2120,1401;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003176.2:intron;ESP6500_GL=SYCP1;ESP6500_GRCh38_POSITION=1:114857319;ESP6500_GTC=841,2781,2879;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003176.2:c.237+44T>G;ESP6500_MAF=42.7408,17.9074,34.3255;ESP6500_TAC=4463,8539	GT:AD:DP:GQ:PL	1/1:0,20:20:59:535,59,0
chr1	114858515	rs360615	G	A	348.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.06;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs360615;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_001282541.1|protein_coding|5/31|c.292-32G>A||||||,A|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_001282542.1|protein_coding|5/30|c.292-32G>A||||||,A|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_003176.3|protein_coding|5/31|c.292-32G>A||||||,A|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NR_104211.1|pseudogene|5/32|n.532-32G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4944;p3_1000G_AF=0.98722;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=15782;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115401136;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4033,159;ESP6500_AA_GTC=1937,159,0;ESP6500_CDS_SIZES=NM_003176.2:2931;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=20;ESP6500_EA_AC=8482,0;ESP6500_EA_GTC=4241,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003176.2:intron;ESP6500_GL=SYCP1;ESP6500_GRCh38_POSITION=1:114858515;ESP6500_GTC=6178,159,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003176.2:c.292-32G>A;ESP6500_MAF=0.0,3.7929,1.2545;ESP6500_TAC=12515,159	GT:AD:DP:GQ:PL	1/1:0,12:12:36:377,36,0
chr1	114878284	rs360636	T	C	31.29	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs360636;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_001282541.1|protein_coding|12/31|c.910+82T>C||||||,C|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_001282542.1|protein_coding|12/30|c.910+82T>C||||||,C|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_003176.3|protein_coding|12/31|c.910+82T>C||||||,C|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NR_104211.1|pseudogene|12/32|n.1150+82T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1669;p3_1000G_AF=0.333267;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=15752;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115420905;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:59,9,0
chr1	114981595	rs12026343	C	T	184.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12026343;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_001282541.1|protein_coding|29/31|c.2559+83C>T||||||,T|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_001282542.1|protein_coding|28/30|c.2484+83C>T||||||,T|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NM_003176.3|protein_coding|29/31|c.2559+83C>T||||||,T|intron_variant|MODIFIER|SYCP1|SYCP1|transcript|NR_104211.1|pseudogene|29/32|n.2799+83C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1806;p3_1000G_AF=0.360623;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=18176;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115524216;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:213,18,0
chr1	115033402	rs10776792;256640	A	G	2088.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.13;SOR=0.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10776792;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|TSHB|TSHB|transcript|NM_000549.4|protein_coding|2/3|c.40A>G|p.Thr14Ala|78/537|40/417|14/138||,G|upstream_gene_variant|MODIFIER|TSHB|TSHB|transcript|NM_001277991.1|protein_coding||c.-544A>G|||||544|;p3_1000G_AA=G|||;p3_1000G_AC=4926;p3_1000G_AF=0.983626;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20156;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115576023;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4381,25;ESP6500_AA_AGE=32.6+/-62.9;ESP6500_AA_GTC=2178,25,0;ESP6500_CDS_SIZES=NM_000549.3:417;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=164;ESP6500_EA_AC=8303,297;ESP6500_EA_AGE=109.4+/-169.9;ESP6500_EA_GTC=4011,281,8;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000549.3:missense;ESP6500_GL=TSHB;ESP6500_GRCh38_POSITION=1:115033402;ESP6500_GS=58;ESP6500_GTC=6189,306,8;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000549.3:c.40A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000549.3:p.(T14A);ESP6500_MAF=3.4535,0.5674,2.4758;ESP6500_PH=benign:0.0;ESP6500_TAC=12684,322;CLINVAR_ALLELEID=249367;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED_CT:190268003|MedGen:C0271789,OMIM:275100,Orphanet:ORPHA90674,SNOMED_CT:82598004|MedGen:CN169374;CLINVAR_CLNDN=Congenital_hypothyroidism|Secondary_hypothyroidism|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.115033402A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:834162|UniProtKB_(protein):P01222#VAR_054769;CLINVAR_GENEINFO=TSHB:7252;CLINVAR_MC=SO:0001583|missense_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10776792	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2117,195,0
chr1	115058994	rs7523818	A	G	955.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.31;ReadPosRankSum=0.725;SOR=1.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7523818;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_005725.5|protein_coding|4/7|c.346-13T>C||||||,G|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_001308315.1|protein_coding|3/6|c.271-13T>C||||||,G|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_001308316.1|protein_coding|4/6|c.346-13T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4836;p3_1000G_AF=0.965655;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=20531;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115601615;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4332,74;ESP6500_AA_AGE=66.4+/-103.9;ESP6500_AA_GTC=2129,74,0;ESP6500_CDS_SIZES=NM_005725.4:666;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=136;ESP6500_EA_AC=7817,783;ESP6500_EA_AGE=185.6+/-233.3;ESP6500_EA_GTC=3561,695,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005725.4:intron;ESP6500_GL=TSPAN2;ESP6500_GRCh38_POSITION=1:115058994;ESP6500_GTC=5690,769,44;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005725.4:c.346-13T>C;ESP6500_MAF=9.1047,1.6795,6.5893;ESP6500_TAC=12149,857	GT:AD:DP:GQ:PL	1/1:2,33:35:54:984,54,0
chr1	115062060	rs11102881	A	G	735.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.43;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11102881;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_005725.5|protein_coding|3/7|c.270+75T>C||||||,G|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_001308315.1|protein_coding|3/6|c.270+75T>C||||||,G|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_001308316.1|protein_coding|3/6|c.270+75T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1603;p3_1000G_AF=0.320088;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=13345;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115604681;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:764,75,0
chr1	115062177	rs10776795	C	T	1249.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.105;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10776795;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|TSPAN2|TSPAN2|transcript|NM_005725.5|protein_coding|3/8|c.228G>A|p.Gly76Gly|296/3213|228/666|76/221||,T|synonymous_variant|LOW|TSPAN2|TSPAN2|transcript|NM_001308315.1|protein_coding|3/7|c.228G>A|p.Gly76Gly|296/3138|228/591|76/196||,T|synonymous_variant|LOW|TSPAN2|TSPAN2|transcript|NM_001308316.1|protein_coding|3/7|c.228G>A|p.Gly76Gly|296/3129|228/582|76/193||,T|sequence_feature|LOW|TSPAN2|TSPAN2|topological-domain:Cytoplasmic|NM_005725.5|protein_coding|3/8|c.228G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1603;p3_1000G_AF=0.320088;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=12891;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.3012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115604798;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1292,3114;ESP6500_AA_GTC=199,894,1110;ESP6500_CDS_SIZES=NM_005725.4:666;ESP6500_CG=-4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=2512,6082;ESP6500_EA_GTC=378,1756,2163;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005725.4:coding-synonymous;ESP6500_GL=TSPAN2;ESP6500_GRCh38_POSITION=1:115062177;ESP6500_GTC=577,2650,3273;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005725.4:c.228G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005725.4:p.(G76);ESP6500_MAF=29.2297,29.3236,29.2615;ESP6500_TAC=3804,9196	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1278,129,0
chr1	115089303	rs4240540	C	T	838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.96;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4240540;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_005725.5|protein_coding|1/7|c.69+61G>A||||||,T|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_001308315.1|protein_coding|1/6|c.69+61G>A||||||,T|intron_variant|MODIFIER|TSPAN2|TSPAN2|transcript|NM_001308316.1|protein_coding|1/6|c.69+61G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4873;p3_1000G_AF=0.973043;p3_1000G_AFR_AF=0.9622;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=7120;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115631924;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:867,90,0
chr1	115359620	rs6537865	A	G	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6537865;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|NGF-VANGL1|NGF-VANGL1|intergenic_region|NGF-VANGL1|||n.115359620A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2936;p3_1000G_AF=0.586262;p3_1000G_AFR_AF=0.77;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=15828;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.4523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115902241;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:115359620_A_G:90,6,0
chr1	115359626	rs149201495	G	A	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs149201495;dbSNPBuildID=134;ANN=A|intergenic_region|MODIFIER|NGF-VANGL1|NGF-VANGL1|intergenic_region|NGF-VANGL1|||n.115359626G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=212;p3_1000G_AF=0.0423323;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=16009;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115902247;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:115359620_A_G:90,6,0
chr1	115359632	.	A	G	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=G|intergenic_region|MODIFIER|NGF-VANGL1|NGF-VANGL1|intergenic_region|NGF-VANGL1|||n.115359632A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:115359620_A_G:90,6,0
chr1	115663598	rs145757689	T	C	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.059;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.667;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=-0.634;SOR=0.264;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145757689;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172412.1|protein_coding|3/7|c.205-63T>C||||||,C|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172411.1|protein_coding|3/7|c.199-63T>C||||||,C|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_138959.2|protein_coding|3/7|c.205-63T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=10;p3_1000G_AF=0.00199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18530;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116206219;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,13:17:99:381,0,107
chr1	115682304	rs10923176	G	A	516.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10923176;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172412.1|protein_coding|4/7|c.813-60G>A||||||,A|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172411.1|protein_coding|4/7|c.807-60G>A||||||,A|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_138959.2|protein_coding|4/7|c.813-60G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3395;p3_1000G_AF=0.677915;p3_1000G_AFR_AF=0.5325;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=21014;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116224925;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:545,54,0
chr1	115682319	rs10754330	C	A	703.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10754330;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172412.1|protein_coding|4/7|c.813-45C>A||||||,A|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172411.1|protein_coding|4/7|c.807-45C>A||||||,A|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_138959.2|protein_coding|4/7|c.813-45C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3397;p3_1000G_AF=0.678315;p3_1000G_AFR_AF=0.5325;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=21164;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116224940;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2525,1881;ESP6500_AA_AGE=533.4+/-373.7;ESP6500_AA_GTC=714,1097,392;ESP6500_CDS_SIZES=NM_138959.2:1575,NM_001172412.1:1575,NM_001172411.1:1569;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=5725,2875;ESP6500_EA_AGE=447.4+/-361.5;ESP6500_EA_GTC=1896,1933,471;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138959.2:intron,NM_001172412.1:intron,NM_001172411.1:intron;ESP6500_GL=VANGL1;ESP6500_GRCh38_POSITION=1:115682319;ESP6500_GTC=2610,3030,863;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_138959.2:c.813-45C>A,NM_001172412.1:c.813-45C>A,NM_001172411.1:c.807-45C>A;ESP6500_MAF=33.4302,42.6918,36.5677;ESP6500_TAC=8250,4756	GT:AD:DP:GQ:PL	1/1:0,23:23:69:732,69,0
chr1	115682559	rs10923177	A	C	820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10923177;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172412.1|protein_coding|5/7|c.946+62A>C||||||,C|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172411.1|protein_coding|5/7|c.940+62A>C||||||,C|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_138959.2|protein_coding|5/7|c.946+62A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3408;p3_1000G_AF=0.680511;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=19342;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116225180;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7853;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:849,75,0
chr1	115685599	rs12145661	C	T	573.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12145661;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172412.1|protein_coding|7/7|c.1314+72C>T||||||,T|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172411.1|protein_coding|7/7|c.1308+72C>T||||||,T|intron_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_138959.2|protein_coding|7/7|c.1314+72C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2978;p3_1000G_AF=0.594649;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=20335;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.5934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116228220;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:602,54,0
chr1	115701256	rs7413162;44157	G	A	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.116;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=7.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.724;SOR=0.074;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7413162;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|11/11|c.1185C>T|p.Asp395Asp|1449/2700|1185/1200|395/399||,A|downstream_gene_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172412.1|protein_coding||c.*9877G>A|||||3032|,A|downstream_gene_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_001172411.1|protein_coding||c.*9877G>A|||||3032|,A|downstream_gene_variant|MODIFIER|VANGL1|VANGL1|transcript|NM_138959.2|protein_coding||c.*9877G>A|||||3032|;p3_1000G_AA=A|||;p3_1000G_AC=2132;p3_1000G_AF=0.425719;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=23773;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.4135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116243877;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1973,2433;ESP6500_AA_AGE=619.6+/-393.4;ESP6500_AA_GTC=458,1057,688;ESP6500_CDS_SIZES=NM_001232.3:1200;ESP6500_CG=-9.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=208;ESP6500_EA_AC=3073,5527;ESP6500_EA_AGE=660.2+/-401.7;ESP6500_EA_GTC=565,1943,1792;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001232.3:coding-synonymous;ESP6500_GL=CASQ2;ESP6500_GRCh38_POSITION=1:115701256;ESP6500_GTC=1023,3000,2480;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001232.3:c.1185C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001232.3:p.(D395);ESP6500_MAF=35.7326,44.7798,38.7975;ESP6500_TAC=5046,7960;CLINVAR_AF_ESP=0.3880;CLINVAR_AF_EXAC=0.38379;CLINVAR_AF_TGP=0.4257;CLINVAR_ALLELEID=53325;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.115701256G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2479;CLINVAR_GENEINFO=CASQ2:845|VANGL1:81839;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7413162	GT:AD:DP:GQ:PL	0/1:12,14:26:99:375,0,336
chr1	115705169	rs3811003;257653	G	A	468.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.989;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.138;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811003;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|9/10|c.939+23C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2147;p3_1000G_AF=0.428714;p3_1000G_AFR_AF=0.6142;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=17300;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.3022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116247790;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2469,1937;ESP6500_AA_AGE=624.6+/-394.4;ESP6500_AA_GTC=685,1099,419;ESP6500_CDS_SIZES=NM_001232.3:1200;ESP6500_CG=4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=96;ESP6500_EA_AC=2749,5851;ESP6500_EA_AGE=437.3+/-358.6;ESP6500_EA_GTC=433,1883,1984;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001232.3:intron;ESP6500_GL=CASQ2;ESP6500_GRCh38_POSITION=1:115705169;ESP6500_GTC=1118,2982,2403;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001232.3:c.939+23C>T;ESP6500_MAF=31.9651,43.9628,40.1199;ESP6500_TAC=5218,7788;CLINVAR_AF_ESP=0.4012;CLINVAR_AF_EXAC=0.34862;CLINVAR_AF_TGP=0.4287;CLINVAR_ALLELEID=249368;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.115705169G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CASQ2:845;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3811003	GT:AD:DP:GQ:PL	0/1:16,19:35:99:497,0,491
chr1	115740722	rs9428083;44163	A	G	777.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9428083;dbSNPBuildID=119;ANN=G|splice_region_variant&intron_variant|LOW|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|3/10|c.420+6T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3223;p3_1000G_AF=0.64357;p3_1000G_AFR_AF=0.2814;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=17827;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.8738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116283343;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1663,2743;ESP6500_AA_AGE=656.3+/-400.0;ESP6500_AA_GTC=325,1013,865;ESP6500_CDS_SIZES=NM_001232.3:1200;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=88;ESP6500_EA_AC=7551,1049;ESP6500_EA_AGE=222.3+/-259.4;ESP6500_EA_GTC=3315,921,64;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001232.3:intron;ESP6500_GL=CASQ2;ESP6500_GRCh38_POSITION=1:115740722;ESP6500_GTC=3640,1934,929;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001232.3:c.420+6T>C;ESP6500_MAF=12.1977,37.744,29.1558;ESP6500_TAC=9214,3792;CLINVAR_ALLELEID=53331;CLINVAR_CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374;CLINVAR_CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.115740722A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2216;CLINVAR_GENEINFO=CASQ2:845;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9428083	GT:AD:DP:GQ:PL	1/1:0,23:23:69:806,69,0
chr1	115740905	rs7538337	G	A	534.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7538337;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|2/10|c.320-77C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3223;p3_1000G_AF=0.64357;p3_1000G_AFR_AF=0.2814;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19512;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.8738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116283526;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:563,51,0
chr1	115744684	rs10127797	C	T	341.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10127797;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|2/10|c.319+144G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1499;p3_1000G_AF=0.299321;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=19790;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.3052;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116287305;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:370,33,0
chr1	115745013	rs10801969	A	G	585.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=5.549;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10801969;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|1/10|c.235-101T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=21182;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.3052;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116287634;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:614,45,0
chr1	115745030	rs10801970	G	A	497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10801970;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|1/10|c.235-118C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=21208;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.3052;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116287651;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:526,42,0
chr1	115768346	rs4074536;44160	T	C	1154.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4074536;dbSNPBuildID=108;ANN=C|missense_variant|MODERATE|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|1/11|c.196A>G|p.Thr66Ala|460/2700|196/1200|66/399||;p3_1000G_AA=C|||;p3_1000G_AC=2009;p3_1000G_AF=0.401158;p3_1000G_AFR_AF=0.4856;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=19899;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.2922;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116310967;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1928,2478;ESP6500_AA_AGE=622.1+/-393.9;ESP6500_AA_GTC=416,1096,691;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21076409;ESP6500_CDS_SIZES=NM_001232.3:1200;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=169;ESP6500_EA_AC=2486,6114;ESP6500_EA_AGE=695.2+/-404.8;ESP6500_EA_GTC=347,1792,2161;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001232.3:missense;ESP6500_GL=CASQ2;ESP6500_GRCh38_POSITION=1:115768346;ESP6500_GS=58;ESP6500_GTC=763,2888,2852;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21076409;ESP6500_HGVS_CDNA_VAR=NM_001232.3:c.196A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001232.3:p.(T66A);ESP6500_MAF=28.907,43.7585,33.9382;ESP6500_PH=benign:0.0;ESP6500_TAC=4414,8592;CLINVAR_AF_ESP=0.3394;CLINVAR_AF_EXAC=0.32650;CLINVAR_AF_TGP=0.4012;CLINVAR_ALLELEID=53328;CLINVAR_CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.115768346T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2219|UniProtKB_(protein):O14958#VAR_023692;CLINVAR_GENEINFO=CASQ2:845;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4074536	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1183,111,0
chr1	115768577	rs4074537	T	C	487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4074537;dbSNPBuildID=108;ANN=C|5_prime_UTR_variant|MODIFIER|CASQ2|CASQ2|transcript|NM_001232.3|protein_coding|1/11|c.-36A>G|||||36|;p3_1000G_AA=C|||;p3_1000G_AC=4820;p3_1000G_AF=0.96246;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20174;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116311198;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3853,553;ESP6500_AA_GTC=1678,497,28;ESP6500_CDS_SIZES=NM_001232.3:1200;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=27;ESP6500_EA_AC=8589,5;ESP6500_EA_GTC=4292,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001232.3:utr-5;ESP6500_GL=CASQ2;ESP6500_GRCh38_POSITION=1:115768577;ESP6500_GTC=5970,502,28;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001232.3:c.-36A>G;ESP6500_MAF=0.0582,12.5511,4.2923;ESP6500_TAC=12442,558	GT:AD:DP:GQ:PL	1/1:0,15:15:45:516,45,0
chr1	115992231	rs4046190	C	T	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.213;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.404;SOR=0.195;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4046190;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|SLC22A15|SLC22A15|transcript|NM_018420.2|protein_coding|2/12|c.288C>T|p.Ser96Ser|418/4720|288/1644|96/547||;p3_1000G_AA=C|||;p3_1000G_AC=2180;p3_1000G_AF=0.435304;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=19432;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.6441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116534852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=810,3202;ESP6500_AA_GTC=98,614,1294;ESP6500_CDS_SIZES=NM_018420.2:1644;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=27;ESP6500_EA_AC=5201,3149;ESP6500_EA_GTC=1625,1951,599;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018420.2:coding-synonymous;ESP6500_GL=SLC22A15;ESP6500_GRCh38_POSITION=1:115992231;ESP6500_GTC=1723,2565,1893;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018420.2:c.288C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018420.2:p.(S96);ESP6500_MAF=37.7126,20.1894,48.6248;ESP6500_TAC=6011,6351	GT:AD:DP:GQ:PL	0/1:15,17:32:99:445,0,461
chr1	116026909	rs2488429	G	C	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.261;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.198;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2488429;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|SLC22A15|SLC22A15|transcript|NM_018420.2|protein_coding|5/12|c.615G>C|p.Leu205Leu|745/4720|615/1644|205/547||;p3_1000G_AA=C|||;p3_1000G_AC=4524;p3_1000G_AF=0.903355;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=17719;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9543;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116569530;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3425,477;ESP6500_AA_GTC=1513,399,39;ESP6500_CDS_SIZES=NM_018420.2:1644;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=212;ESP6500_EA_AC=7856,410;ESP6500_EA_GTC=3732,392,9;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018420.2:coding-synonymous;ESP6500_GL=SLC22A15;ESP6500_GRCh38_POSITION=1:116026909;ESP6500_GTC=5245,791,48;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018420.2:c.615G>C;ESP6500_HGVS_PROTEIN_VAR=NM_018420.2:p.(L205);ESP6500_MAF=4.9601,12.2245,7.2896;ESP6500_TAC=11281,887	GT:AD:DP:GQ:PL	0/1:21,18:39:99:542,0,527
chr1	116035360	rs1935828	G	A	1302.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=1.005;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1935828;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|SLC22A15|SLC22A15|transcript|NM_018420.2|protein_coding|7/11|c.1085+33G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4809;p3_1000G_AF=0.960264;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=19841;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116577981;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3494,420;ESP6500_AA_GTC=1569,356,32;ESP6500_CDS_SIZES=NM_018420.2:1644;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=56;ESP6500_EA_AC=8293,19;ESP6500_EA_GTC=4137,19,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018420.2:intron;ESP6500_GL=SLC22A15;ESP6500_GRCh38_POSITION=1:116035360;ESP6500_GTC=5706,375,32;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018420.2:c.1085+33G>A;ESP6500_MAF=0.2286,10.7307,3.5907;ESP6500_TAC=11787,439	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1331,126,0
chr1	116037158	rs17035177	C	T	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.431;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17035177;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|SLC22A15|SLC22A15|transcript|NM_018420.2|protein_coding|7/11|c.1086-145C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=588;p3_1000G_AF=0.117412;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=18238;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116579779;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:66:133,0,66
chr1	116062802	rs3748743	C	T	1435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.019;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=1.994;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=0.39;SOR=0.988;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748743;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|SLC22A15|SLC22A15|transcript|NM_018420.2|protein_coding|9/12|c.1212C>T|p.Ser404Ser|1342/4720|1212/1644|404/547||;p3_1000G_AA=C|||;p3_1000G_AC=639;p3_1000G_AF=0.127596;p3_1000G_AFR_AF=0.2655;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=24204;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.0437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116605423;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=977,3259;ESP6500_AA_GTC=112,753,1253;ESP6500_CDS_SIZES=NM_018420.2:1644;ESP6500_CG=-2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=300;ESP6500_EA_AC=399,8073;ESP6500_EA_GTC=10,379,3847;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018420.2:coding-synonymous;ESP6500_GL=SLC22A15;ESP6500_GRCh38_POSITION=1:116062802;ESP6500_GTC=122,1132,5100;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018420.2:c.1212C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018420.2:p.(S404);ESP6500_MAF=4.7096,23.0642,10.8278;ESP6500_TAC=1376,11332	GT:AD:DP:GQ:PL	0/1:29,53:82:99:1464,0,749
chr1	116064633	rs1281748	G	T	1000.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.92;SOR=4.332;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1281748;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|SLC22A15|SLC22A15|transcript|NM_018420.2|protein_coding|10/11|c.1365+125G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4918;p3_1000G_AF=0.982029;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21184;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116607254;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:1029,81,0
chr1	116066564	rs3748742	G	A	1088.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.581;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=0.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.165;SOR=0.896;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748742;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|SLC22A15|SLC22A15|transcript|NM_018420.2|protein_coding|11/12|c.1410G>A|p.Thr470Thr|1540/4720|1410/1644|470/547||;p3_1000G_AA=C|||;p3_1000G_AC=587;p3_1000G_AF=0.117212;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=17717;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116609185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=529,3213;ESP6500_AA_GTC=39,451,1381;ESP6500_CDS_SIZES=NM_018420.2:1644;ESP6500_CG=-11.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=54;ESP6500_EA_AC=628,7594;ESP6500_EA_GTC=21,586,3504;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018420.2:coding-synonymous;ESP6500_GL=SLC22A15;ESP6500_GRCh38_POSITION=1:116066564;ESP6500_GTC=60,1037,4885;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018420.2:c.1410G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018420.2:p.(T470);ESP6500_MAF=7.638,14.1368,9.6707;ESP6500_TAC=1157,10807	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1117,0,1109
chr1	116067212	rs3748741	G	A	29.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.95;ReadPosRankSum=-0.842;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748741;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|SLC22A15|SLC22A15|transcript|NM_018420.2|protein_coding|12/12|c.*104G>A|||||104|;p3_1000G_AA=G|||;p3_1000G_AC=588;p3_1000G_AF=0.117412;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=17640;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116609833;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:58:58,0,113
chr1	116121103	rs41275550	C	T	651.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.224;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.008;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.864;SOR=0.468;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41275550;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|MAB21L3|MAB21L3|transcript|NM_152367.2|protein_coding|3/6|c.189+31C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=413;p3_1000G_AF=0.0824681;p3_1000G_AFR_AF=0.0227;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=21236;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.0716;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116663724;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0573;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=186,4220;ESP6500_AA_AGE=117.1+/-155.0;ESP6500_AA_GTC=7,172,2024;ESP6500_CDS_SIZES=NM_152367.2:1089;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=106;ESP6500_EA_AC=657,7943;ESP6500_EA_AGE=167.5+/-219.3;ESP6500_EA_GTC=22,613,3665;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152367.2:intron;ESP6500_GL=MAB21L3;ESP6500_GRCh38_POSITION=1:116121103;ESP6500_GTC=29,785,5689;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152367.2:c.189+31C>T;ESP6500_MAF=7.6395,4.2215,6.4816;ESP6500_TAC=843,12163	GT:AD:DP:GQ:PL	0/1:33,28:61:99:680,0,932
chr1	116123948	rs960675	T	A	356.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs960675;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|MAB21L3|MAB21L3|transcript|NM_152367.2|protein_coding|3/6|c.190-118T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2071;p3_1000G_AF=0.413538;p3_1000G_AFR_AF=0.8971;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=20604;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116666569;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:385,36,0
chr1	116128153	rs10754431	A	G	1484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.59;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10754431;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|MAB21L3|MAB21L3|transcript|NM_152367.2|protein_coding|6/7|c.669A>G|p.Gly223Gly|934/3229|669/1089|223/362||;p3_1000G_AA=G|||;p3_1000G_AC=2091;p3_1000G_AF=0.417532;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=21590;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.2227;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116670774;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3409,997;ESP6500_AA_AGE=370.8+/-319.7;ESP6500_AA_GTC=1330,749,124;ESP6500_CDS_SIZES=NM_152367.2:1089;ESP6500_CG=0.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=113;ESP6500_EA_AC=1850,6750;ESP6500_EA_AGE=730.1+/-406.7;ESP6500_EA_GTC=190,1470,2640;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152367.2:coding-synonymous;ESP6500_GL=MAB21L3;ESP6500_GRCh38_POSITION=1:116128153;ESP6500_GTC=1520,2219,2764;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152367.2:c.669A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152367.2:p.(G223);ESP6500_MAF=21.5116,22.6282,40.4352;ESP6500_TAC=5259,7747	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,47:47:99:1|1:116128149_T_G:1513,141,0
chr1	116133414	rs10802159	A	C	978.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.6;SOR=3.098;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10802159;dbSNPBuildID=120;ANN=C|3_prime_UTR_variant|MODIFIER|MAB21L3|MAB21L3|transcript|NM_152367.2|protein_coding|7/7|c.*49A>C|||||49|;p3_1000G_AA=C|||;p3_1000G_AC=2108;p3_1000G_AF=0.420927;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18742;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116676035;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3397,1007;ESP6500_AA_GTC=1331,735,136;ESP6500_CDS_SIZES=NM_152367.2:1089;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=14;ESP6500_EA_AC=1884,6714;ESP6500_EA_GTC=206,1472,2621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152367.2:utr-3;ESP6500_GL=MAB21L3;ESP6500_GRCh38_POSITION=1:116133414;ESP6500_GTC=1537,2207,2757;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_152367.2:c.*49A>C;ESP6500_MAF=21.9121,22.8656,40.6168;ESP6500_TAC=5281,7721	GT:AD:DP:GQ:PL	1/1:0,26:26:78:1007,78,0
chr1	116397859	rs563446405	CT	C	202.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.721;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.517;SOR=0.19;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|downstream_gene_variant|MODIFIER|ATP1A1-AS1|ATP1A1-AS1|transcript|NR_027645.1|pseudogene||n.*1140delA|||||1140|,C|intron_variant|MODIFIER|ATP1A1|ATP1A1|transcript|NM_000701.7|protein_coding|14/22|c.1974-14delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ATP1A1|ATP1A1|transcript|NM_001160233.1|protein_coding|14/22|c.1974-14delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ATP1A1|ATP1A1|transcript|NM_001160234.1|protein_coding|14/22|c.1881-14delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ATP1A1-AS1|ATP1A1-AS1|transcript|NR_027646.1|pseudogene|2/2|n.400+3036delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2159;p3_1000G_AF=0.43111;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=24293;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.4036;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116940481;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:17,12:29:99:240,0,356
chr1	116579508	rs6703791	T	C	1034.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.75;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.038;SOR=0.633;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6703791;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|IGSF3|IGSF3|transcript|NM_001542.3|protein_coding|10/11|c.3278A>G|p.Gln1093Arg|3908/7189|3278/3645|1093/1214||,C|missense_variant|MODERATE|IGSF3|IGSF3|transcript|NM_001007237.2|protein_coding|10/11|c.3218A>G|p.Gln1073Arg|3986/7267|3218/3585|1073/1194||;p3_1000G_AA=C|||;p3_1000G_AC=1724;p3_1000G_AF=0.344249;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=19301;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117122130;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1555,2851;ESP6500_AA_AGE=667.5+/-401.9;ESP6500_AA_GTC=285,985,933;ESP6500_CDS_SIZES=NM_001542.2:3645,NM_001007237.1:3585;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=49;ESP6500_EA_AC=1560,7040;ESP6500_EA_AGE=743.0+/-407.2;ESP6500_EA_GTC=137,1286,2877;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001542.2:missense,NM_001007237.1:missense;ESP6500_GL=IGSF3;ESP6500_GRCh38_POSITION=1:116579508;ESP6500_GS=43,43;ESP6500_GTC=422,2271,3810;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001542.2:c.3278A>G,NM_001007237.1:c.3218A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001542.2:p.(Q1093R),NM_001007237.1:p.(Q1073R);ESP6500_MAF=18.1395,35.2928,23.9505;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=3115,9891	GT:AD:DP:GQ:PL	0/1:44,38:82:99:1063,0,1104
chr1	116599909	rs631461	G	A	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.476;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=5.563;MLEAC=1;MLEAF=0.5;MQ=59.84;MQRankSum=0.744;QD=4.32;ReadPosRankSum=-0.999;SOR=0.031;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs631461;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|IGSF3|IGSF3|transcript|NM_001542.3|protein_coding|7/10|c.2089+32C>T||||||,A|intron_variant|MODIFIER|IGSF3|IGSF3|transcript|NM_001007237.2|protein_coding|7/10|c.2029+32C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3461;p3_1000G_AF=0.691094;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=22048;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.6133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117142531;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3317,1085;ESP6500_AA_GTC=1167,983,51;ESP6500_CDS_SIZES=NM_001542.2:3645,NM_001007237.1:3585;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=29;ESP6500_EA_AC=4797,3801;ESP6500_EA_GTC=1160,2477,662;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001542.2:intron,NM_001007237.1:intron;ESP6500_GL=IGSF3;ESP6500_GRCh38_POSITION=1:116599909;ESP6500_GTC=2327,3460,713;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001542.2:c.2089+32C>T,NM_001007237.1:c.2029+32C>T;ESP6500_MAF=44.208,24.6479,37.5846;ESP6500_TAC=8114,4886	GT:AD:DP:GQ:PL	0/1:13,5:18:99:106,0,514
chr1	116608296	rs78612004	G	T	207.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.529;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.799;MLEAC=1;MLEAF=0.5;MQ=58.19;MQRankSum=-0.215;QD=7.42;ReadPosRankSum=0.116;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78612004;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|IGSF3|IGSF3|transcript|NM_001542.3|protein_coding|4/11|c.868C>A|p.Arg290Arg|1498/7189|868/3645|290/1214||,T|synonymous_variant|LOW|IGSF3|IGSF3|transcript|NM_001007237.2|protein_coding|5/11|c.868C>A|p.Arg290Arg|1636/7267|868/3585|290/1194||;p3_1000G_AA=G|||;p3_1000G_AC=24;p3_1000G_AF=0.00479233;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15930;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117150918;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,10:28:99:236,0,563
chr1	116694348	rs614477	G	C	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.526;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.056;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=-0.253;SOR=0.154;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs614477;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|C1orf137|C1orf137|transcript|NM_001013643.1|protein_coding|1/3|c.68+151G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1951;p3_1000G_AF=0.389577;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=18661;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117236970;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:415,0,280
chr1	116944648	rs56209138	G	A	43.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56209138;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|PTGFRN|PTGFRN|transcript|NM_020440.3|protein_coding|2/8|c.419-31G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1443;p3_1000G_AF=0.288139;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=12121;p3_1000G_EAS_AF=0.5149;p3_1000G_EUR_AF=0.2197;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117487270;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=676,2764;ESP6500_AA_GTC=72,532,1116;ESP6500_CDS_SIZES=NM_020440.2:2640;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=6;ESP6500_EA_AC=1420,5784;ESP6500_EA_GTC=162,1096,2344;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020440.2:intron;ESP6500_GL=PTGFRN;ESP6500_GRCh38_POSITION=1:116944648;ESP6500_GTC=234,1628,3460;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020440.2:c.419-31G>A;ESP6500_MAF=19.7113,19.6512,19.6918;ESP6500_TAC=2096,8548	GT:AD:DP:GQ:PL	1/1:0,2:2:6:71,6,0
chr1	116945088	rs10159095	A	G	1899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=1.455;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10159095;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|PTGFRN|PTGFRN|transcript|NM_020440.3|protein_coding|3/9|c.828A>G|p.Pro276Pro|1109/6312|828/2640|276/879||,G|sequence_feature|LOW|PTGFRN|PTGFRN|domain:Ig-like_C2-type_3|NM_020440.3|protein_coding|3/9|c.828A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4304;p3_1000G_AF=0.859425;p3_1000G_AFR_AF=0.7549;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=16302;p3_1000G_EAS_AF=0.8452;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117487710;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2334,2072;ESP6500_AA_GTC=883,568,752;ESP6500_CDS_SIZES=NM_020440.2:2640;ESP6500_CG=-11.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=32;ESP6500_EA_AC=6051,2547;ESP6500_EA_GTC=2414,1223,662;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020440.2:coding-synonymous;ESP6500_GL=PTGFRN;ESP6500_GRCh38_POSITION=1:116945088;ESP6500_GTC=3297,1791,1414;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020440.2:c.828A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020440.2:p.(P276);ESP6500_MAF=29.6232,47.0268,35.5198;ESP6500_TAC=8385,4619	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:116945088_A_G:1928,129,0
chr1	116945089	rs4546904	T	A	1899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.29;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4546904;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|PTGFRN|PTGFRN|transcript|NM_020440.3|protein_coding|3/9|c.829T>A|p.Ser277Thr|1110/6312|829/2640|277/879||;p3_1000G_AA=A|||;p3_1000G_AC=4304;p3_1000G_AF=0.859425;p3_1000G_AFR_AF=0.7549;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=16379;p3_1000G_EAS_AF=0.8452;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117487711;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2298,2108;ESP6500_AA_GTC=861,576,766;ESP6500_CDS_SIZES=NM_020440.2:2640;ESP6500_CG=5.5;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=32;ESP6500_EA_AC=6028,2568;ESP6500_EA_GTC=2404,1220,674;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020440.2:missense;ESP6500_GL=PTGFRN;ESP6500_GRCh38_POSITION=1:116945089;ESP6500_GS=58;ESP6500_GTC=3265,1796,1440;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_020440.2:c.829T>A;ESP6500_HGVS_PROTEIN_VAR=NM_020440.2:p.(S277T);ESP6500_MAF=29.8744,47.8438,35.9637;ESP6500_PH=benign:0.0;ESP6500_TAC=8326,4676	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:116945088_A_G:1928,129,0
chr1	116985023	rs36119404;rs3841438	GTCT	G	415.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.717;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=3.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.981;SOR=1.885;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3841438,rs36119404;dbSNPBuildID=126,137;ANN=G|intron_variant|MODIFIER|PTGFRN|PTGFRN|transcript|NM_020440.3|protein_coding|8/8|c.2473+46_2473+48delCTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1906;p3_1000G_AF=0.380591;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=20701;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117527645;p3_1000G_GRCH37_REF=GTCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=INDEL;ESP6500_AA_AC=2048,2216;ESP6500_AA_GTC=492,1064,576;ESP6500_CDS_SIZES=NM_020440.2:2640;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=28;ESP6500_EA_AC=2394,5856;ESP6500_EA_GTC=348,1698,2079;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020440.2:intron;ESP6500_GL=PTGFRN;ESP6500_GRCh38_POSITION=1:116985023;ESP6500_GTC=840,2762,2655;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020440.2:c.2473+39_2473+41del3;ESP6500_MAF=29.0182,48.03,35.4962;ESP6500_TAC=4442,8072	GT:AD:DP:GQ:PL	0/1:28,13:41:99:453,0,1241
chr1	116986836	rs10801922	G	A	678.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.88;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.812;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10801922;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|PTGFRN|PTGFRN|transcript|NM_020440.3|protein_coding|9/9|c.2509G>A|p.Val837Ile|2790/6312|2509/2640|837/879||;p3_1000G_AA=G|||;p3_1000G_AC=2494;p3_1000G_AF=0.498003;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=18613;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.4364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117529458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1378,3028;ESP6500_AA_AGE=454.4+/-350.6;ESP6500_AA_GTC=235,908,1060;ESP6500_CDS_SIZES=NM_020440.2:2640;ESP6500_CG=0.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=101;ESP6500_EA_AC=3825,4775;ESP6500_EA_AGE=539.9+/-383.7;ESP6500_EA_GTC=853,2119,1328;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020440.2:missense;ESP6500_GL=PTGFRN;ESP6500_GRCh38_POSITION=1:116986836;ESP6500_GS=29;ESP6500_GTC=1088,3027,2388;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020440.2:c.2509G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020440.2:p.(V837I);ESP6500_MAF=44.4767,31.2755,40.0046;ESP6500_PH=benign:0.005;ESP6500_TAC=5203,7803	GT:AD:DP:GQ:PL	0/1:30,26:56:99:707,0,766
chr1	117017104	rs2249265	A	G	1086.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2249265;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CD101|CD101|transcript|NM_001256106.2|protein_coding|5/10|c.1243A>G|p.Met415Val|1311/3551|1243/3066|415/1021||,G|missense_variant|MODERATE|CD101|CD101|transcript|NM_001256109.2|protein_coding|5/10|c.1243A>G|p.Met415Val|1311/3520|1243/3066|415/1021||,G|missense_variant|MODERATE|CD101|CD101|transcript|NM_001256111.2|protein_coding|5/10|c.1057A>G|p.Met353Val|1125/3334|1057/2880|353/959||,G|missense_variant|MODERATE|CD101|CD101|transcript|NM_004258.5|protein_coding|5/10|c.1243A>G|p.Met415Val|1311/3563|1243/3066|415/1021||;p3_1000G_AA=G|||;p3_1000G_AC=4684;p3_1000G_AF=0.935304;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=22669;p3_1000G_EAS_AF=0.8462;p3_1000G_EUR_AF=0.9602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117559726;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4284,122;ESP6500_AA_AGE=90.6+/-129.3;ESP6500_AA_GTC=2084,116,3;ESP6500_CDS_SIZES=NM_004258.4:3066,NM_001256111.1:2880,NM_001256109.1:3066,NM_001256106.1:3066;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=8398,202;ESP6500_EA_AGE=87.6+/-150.0;ESP6500_EA_GTC=4100,198,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004258.4:missense,NM_001256111.1:missense,NM_001256109.1:missense,NM_001256106.1:missense;ESP6500_GL=CD101;ESP6500_GRCh38_POSITION=1:117017104;ESP6500_GS=21,21,21,21;ESP6500_GTC=6184,314,5;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004258.4:c.1243A>G,NM_001256111.1:c.1057A>G,NM_001256109.1:c.1243A>G,NM_001256106.1:c.1243A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004258.4:p.(M415V),NM_001256111.1:p.(M353V),NM_001256109.1:p.(M415V),NM_001256106.1:p.(M415V);ESP6500_MAF=2.3488,2.769,2.4912;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12682,324	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1115,108,0
chr1	117018196	rs3736908	A	G	717.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=0.506;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736908;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|CD101|CD101|transcript|NM_001256106.2|protein_coding|6/10|c.1653A>G|p.Gln551Gln|1721/3551|1653/3066|551/1021||,G|synonymous_variant|LOW|CD101|CD101|transcript|NM_001256109.2|protein_coding|6/10|c.1653A>G|p.Gln551Gln|1721/3520|1653/3066|551/1021||,G|synonymous_variant|LOW|CD101|CD101|transcript|NM_001256111.2|protein_coding|6/10|c.1467A>G|p.Gln489Gln|1535/3334|1467/2880|489/959||,G|synonymous_variant|LOW|CD101|CD101|transcript|NM_004258.5|protein_coding|6/10|c.1653A>G|p.Gln551Gln|1721/3563|1653/3066|551/1021||;p3_1000G_AA=A|||;p3_1000G_AC=1725;p3_1000G_AF=0.344449;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=19499;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.2813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117560818;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=367,4039;ESP6500_AA_AGE=185.3+/-212.5;ESP6500_AA_GTC=18,331,1854;ESP6500_CDS_SIZES=NM_004258.4:3066,NM_001256111.1:2880,NM_001256109.1:3066,NM_001256106.1:3066;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=90;ESP6500_EA_AC=2365,6235;ESP6500_EA_AGE=390.0+/-343.1;ESP6500_EA_GTC=324,1717,2259;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004258.4:coding-synonymous,NM_001256111.1:coding-synonymous,NM_001256109.1:coding-synonymous,NM_001256106.1:coding-synonymous;ESP6500_GL=CD101;ESP6500_GRCh38_POSITION=1:117018196;ESP6500_GTC=342,2048,4113;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004258.4:c.1653A>G,NM_001256111.1:c.1467A>G,NM_001256109.1:c.1653A>G,NM_001256106.1:c.1653A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004258.4:p.(Q551),NM_001256111.1:p.(Q489),NM_001256109.1:p.(Q551),NM_001256106.1:p.(Q551);ESP6500_MAF=27.5,8.3296,21.0057;ESP6500_TAC=2732,10274	GT:AD:DP:GQ:PL	0/1:16,23:39:99:746,0,509
chr1	117025578	rs2274254	G	A	584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.48;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274254;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|CD101|CD101|transcript|NM_001256106.2|protein_coding|8/10|c.2498G>A|p.Arg833His|2566/3551|2498/3066|833/1021||,A|missense_variant|MODERATE|CD101|CD101|transcript|NM_001256109.2|protein_coding|8/10|c.2498G>A|p.Arg833His|2566/3520|2498/3066|833/1021||,A|missense_variant|MODERATE|CD101|CD101|transcript|NM_001256111.2|protein_coding|8/10|c.2312G>A|p.Arg771His|2380/3334|2312/2880|771/959||,A|missense_variant|MODERATE|CD101|CD101|transcript|NM_004258.5|protein_coding|8/10|c.2498G>A|p.Arg833His|2566/3563|2498/3066|833/1021||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101929099|LOC101929099|transcript|NR_110786.1|pseudogene|4/4|n.1718C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=93;p3_1000G_AF=0.0185703;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17887;p3_1000G_EAS_AF=0.0923;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117568200;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_004258.4:3066,NM_001256111.1:2880,NM_001256109.1:3066,NM_001256106.1:3066;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004258.4:missense,NM_001256111.1:missense,NM_001256109.1:missense,NM_001256106.1:missense;ESP6500_GL=CD101;ESP6500_GRCh38_POSITION=1:117025578;ESP6500_GS=29,29,29,29;ESP6500_GTC=0,3,6500;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004258.4:c.2498G>A,NM_001256111.1:c.2312G>A,NM_001256109.1:c.2498G>A,NM_001256106.1:c.2498G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004258.4:p.(R833H),NM_001256111.1:p.(R771H),NM_001256109.1:p.(R833H),NM_001256106.1:p.(R833H);ESP6500_MAF=0.0349,0.0,0.0231;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PL	0/1:21,23:44:99:613,0,471
chr1	117060338	rs2244501	C	A	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.499;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.333;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2244501;dbSNPBuildID=100;ANN=A|5_prime_UTR_variant|MODIFIER|TTF2|TTF2|transcript|NM_003594.3|protein_coding|1/23|c.-9C>A|||||9|,A|upstream_gene_variant|MODIFIER|LOC101929099|LOC101929099|transcript|NR_110786.1|pseudogene||n.-848G>T|||||848|;p3_1000G_AA=C|||;p3_1000G_AC=3669;p3_1000G_AF=0.732628;p3_1000G_AFR_AF=0.3835;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=14887;p3_1000G_EAS_AF=0.9018;p3_1000G_EUR_AF=0.8757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117602960;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2074,2332;ESP6500_AA_AGE=570.8+/-382.9;ESP6500_AA_GTC=516,1042,645;ESP6500_CDS_SIZES=NM_003594.3:3489;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=105;ESP6500_EA_AC=7414,1186;ESP6500_EA_AGE=764.2+/-407.6;ESP6500_EA_GTC=3194,1026,80;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003594.3:utr-5;ESP6500_GL=TTF2;ESP6500_GRCh38_POSITION=1:117060338;ESP6500_GTC=3710,2068,725;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_003594.3:c.-9C>A;ESP6500_MAF=13.7907,47.0722,27.0491;ESP6500_TAC=9488,3518	GT:AD:DP:GQ:PL	0/1:11,19:30:99:502,0,268
chr1	117060534	rs2274253	G	T	35.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=-0.278;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274253;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TTF2|TTF2|transcript|NM_003594.3|protein_coding|2/23|c.108G>T|p.Thr36Thr|128/4854|108/3489|36/1162||,T|upstream_gene_variant|MODIFIER|LOC101929099|LOC101929099|transcript|NR_110786.1|pseudogene||n.-1044C>A|||||1044|;p3_1000G_AA=G|||;p3_1000G_AC=640;p3_1000G_AF=0.127796;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=15098;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.0527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117603156;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=700,3706;ESP6500_AA_AGE=290.4+/-280.9;ESP6500_AA_GTC=51,598,1554;ESP6500_CDS_SIZES=NM_003594.3:3489;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=412,8188;ESP6500_EA_AGE=129.8+/-187.9;ESP6500_EA_GTC=7,398,3895;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003594.3:coding-synonymous;ESP6500_GL=TTF2;ESP6500_GRCh38_POSITION=1:117060534;ESP6500_GTC=58,996,5449;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003594.3:c.108G>T;ESP6500_HGVS_PROTEIN_VAR=NM_003594.3:p.(T36);ESP6500_MAF=4.7907,15.8874,8.5499;ESP6500_TAC=1112,11894	GT:AD:DP:GQ:PL	0/1:17,3:20:64:64,0,531
chr1	117060566	rs2244406	G	T	451.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2244406;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|LOC101929099|LOC101929099|transcript|NR_110786.1|pseudogene||n.-1076C>A|||||1076|,T|intron_variant|MODIFIER|TTF2|TTF2|transcript|NM_003594.3|protein_coding|2/22|c.131+9G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3587;p3_1000G_AF=0.716254;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=14371;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.6938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117603188;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2389,2017;ESP6500_AA_AGE=537.3+/-374.7;ESP6500_AA_GTC=679,1031,493;ESP6500_CDS_SIZES=NM_003594.3:3489;ESP6500_CG=2.1;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=5858,2742;ESP6500_EA_AGE=423.9+/-354.5;ESP6500_EA_GTC=2033,1792,475;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003594.3:intron;ESP6500_GL=TTF2;ESP6500_GRCh38_POSITION=1:117060566;ESP6500_GTC=2712,2823,968;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003594.3:c.131+9G>T;ESP6500_MAF=31.8837,45.7785,36.5908;ESP6500_TAC=8247,4759	GT:AD:DP:GQ:PL	1/1:0,14:14:42:480,42,0
chr1	117062233	rs75261221	A	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.4;ReadPosRankSum=0.967;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75261221;dbSNPBuildID=131;ANN=G|upstream_gene_variant|MODIFIER|LOC101929099|LOC101929099|transcript|NR_110786.1|pseudogene||n.-2743T>C|||||2743|,G|intron_variant|MODIFIER|TTF2|TTF2|transcript|NM_003594.3|protein_coding|2/22|c.132-154A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=374;p3_1000G_AF=0.0746805;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=18713;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117604855;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:57:192,0,57
chr1	117074814	.	C	T	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|TTF2|TTF2|transcript|NM_003594.3|protein_coding|4/22|c.286-56C>T||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	117075083	rs998532	A	G	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.47;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.98;SOR=1.388;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs998532;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|TTF2|TTF2|transcript|NM_003594.3|protein_coding|5/23|c.499A>G|p.Lys167Glu|519/4854|499/3489|167/1162||;p3_1000G_AA=A|||;p3_1000G_AC=2577;p3_1000G_AF=0.514577;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=18261;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117617705;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=910,3496;ESP6500_AA_AGE=348.2+/-309.8;ESP6500_AA_GTC=102,706,1395;ESP6500_CDS_SIZES=NM_003594.3:3489;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=88;ESP6500_EA_AC=5194,3406;ESP6500_EA_AGE=636.6+/-399.1;ESP6500_EA_GTC=1610,1974,716;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003594.3:missense;ESP6500_GL=TTF2;ESP6500_GRCh38_POSITION=1:117075083;ESP6500_GS=56;ESP6500_GTC=1712,2680,2111;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003594.3:c.499A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003594.3:p.(K167E);ESP6500_MAF=39.6047,20.6537,46.9322;ESP6500_PH=benign:0.208;ESP6500_TAC=6104,6902	GT:AD:DP:GQ:PL	0/1:13,12:25:99:364,0,316
chr1	117075445	rs1289673	C	T	749.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.6;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=1.14;SOR=0.903;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1289673;dbSNPBuildID=87;ANN=T|synonymous_variant|LOW|TTF2|TTF2|transcript|NM_003594.3|protein_coding|5/23|c.861C>T|p.Asn287Asn|881/4854|861/3489|287/1162||;p3_1000G_AA=C|||;p3_1000G_AC=2573;p3_1000G_AF=0.513778;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=19576;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117618067;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=899,3507;ESP6500_AA_AGE=346.4+/-309.0;ESP6500_AA_GTC=102,695,1406;ESP6500_CDS_SIZES=NM_003594.3:3489;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=74;ESP6500_EA_AC=5195,3405;ESP6500_EA_AGE=636.3+/-399.1;ESP6500_EA_GTC=1610,1975,715;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003594.3:coding-synonymous;ESP6500_GL=TTF2;ESP6500_GRCh38_POSITION=1:117075445;ESP6500_GTC=1712,2670,2121;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003594.3:c.861C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003594.3:p.(N287);ESP6500_MAF=39.593,20.404,46.8553;ESP6500_TAC=6094,6912	GT:AD:DP:GQ:PL	0/1:18,24:42:99:778,0,533
chr1	117076100	rs1289672	T	C	352.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.89;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1289672;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|TTF2|TTF2|transcript|NM_003594.3|protein_coding|5/22|c.1276-80T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4969;p3_1000G_AF=0.992212;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19546;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117618722;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:381,30,0
chr1	117076352	rs1467645	G	A	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.365;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-0.084;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1467645;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|TTF2|TTF2|transcript|NM_003594.3|protein_coding|6/22|c.1390+58G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=612;p3_1000G_AF=0.122204;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=19134;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117618974;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:94:205,0,94
chr1	117079664	rs2801939	A	G	777.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=1.43;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2801939;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTF2|TTF2|transcript|NM_003594.3|protein_coding|9/22|c.1783+15A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2702;p3_1000G_AF=0.539537;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=18437;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117622286;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6247;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1044,3362;ESP6500_AA_AGE=384.2+/-325.2;ESP6500_AA_GTC=137,770,1296;ESP6500_CDS_SIZES=NM_003594.3:3489;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=88;ESP6500_EA_AC=5936,2664;ESP6500_EA_AGE=685.6+/-404.1;ESP6500_EA_GTC=2070,1796,434;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003594.3:intron;ESP6500_GL=TTF2;ESP6500_GRCh38_POSITION=1:117079664;ESP6500_GTC=2207,2566,1730;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003594.3:c.1783+15A>G;ESP6500_MAF=30.9767,23.695,46.3325;ESP6500_TAC=6980,6026	GT:AD:DP:GQ:PL	0/1:21,31:52:99:806,0,451
chr1	117088769	rs1555792	T	C	1435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1555792;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|TTF2|TTF2|transcript|NM_003594.3|protein_coding|12/22|c.2161-32T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4550;p3_1000G_AF=0.908546;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.9481;p3_1000G_AN=5008;p3_1000G_DP=18580;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9294;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117631391;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3427,979;ESP6500_AA_AGE=367.8+/-318.4;ESP6500_AA_GTC=1358,711,134;ESP6500_CDS_SIZES=NM_003594.3:3489;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=77;ESP6500_EA_AC=7829,771;ESP6500_EA_AGE=182.6+/-231.0;ESP6500_EA_GTC=3563,703,34;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003594.3:intron;ESP6500_GL=TTF2;ESP6500_GRCh38_POSITION=1:117088769;ESP6500_GTC=4921,1414,168;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003594.3:c.2161-32T>C;ESP6500_MAF=8.9651,22.2197,13.4553;ESP6500_TAC=11256,1750	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1464,126,0
chr1	117112522	rs41313987	T	C	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-0.453;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41313987;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|TRIM45|TRIM45|transcript|NM_025188.3|protein_coding|5/5|c.1595-69A>G||||||,C|intron_variant|MODIFIER|TRIM45|TRIM45|transcript|NM_001145635.1|protein_coding|5/5|c.1541-69A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=234;p3_1000G_AF=0.0467252;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=20434;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.0229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117655144;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:118,0,149
chr1	117113466	rs1289658	A	G	567.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=5.874;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.288;SOR=1.603;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1289658;dbSNPBuildID=87;ANN=G|missense_variant|MODERATE|TRIM45|TRIM45|transcript|NM_025188.3|protein_coding|5/6|c.1487T>C|p.Met496Thr|2075/3581|1487/1743|496/580||,G|missense_variant|MODERATE|TRIM45|TRIM45|transcript|NM_001145635.1|protein_coding|5/6|c.1433T>C|p.Met478Thr|2021/3527|1433/1689|478/562||;p3_1000G_AA=G|||;p3_1000G_AC=2229;p3_1000G_AF=0.445088;p3_1000G_AFR_AF=0.6793;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=22011;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.4364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117656088;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2732,1674;ESP6500_AA_AGE=508.8+/-367.0;ESP6500_AA_GTC=873,986,344;ESP6500_CDS_SIZES=NM_025188.3:1743,NM_001145635.1:1689;ESP6500_CG=4.0;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=62;ESP6500_EA_AC=3455,5145;ESP6500_EA_AGE=636.3+/-399.1;ESP6500_EA_GTC=680,2095,1525;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025188.3:missense,NM_001145635.1:missense;ESP6500_GL=TRIM45;ESP6500_GRCh38_POSITION=1:117113466;ESP6500_GS=81,81;ESP6500_GTC=1553,3081,1869;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_025188.3:c.1487T>C,NM_001145635.1:c.1433T>C;ESP6500_HGVS_PROTEIN_VAR=NM_025188.3:p.(M496T),NM_001145635.1:p.(M478T);ESP6500_MAF=40.1744,37.9936,47.5704;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=6187,6819	GT:AD:DP:GQ:PL	0/1:29,23:52:99:596,0,738
chr1	117116670	rs76902778	C	T	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.947;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=2.78;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.348;SOR=0.524;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76902778;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|TRIM45|TRIM45|transcript|NM_025188.3|protein_coding|3/6|c.1298G>A|p.Gly433Asp|1886/3581|1298/1743|433/580||,T|missense_variant|MODERATE|TRIM45|TRIM45|transcript|NM_001145635.1|protein_coding|3/6|c.1244G>A|p.Gly415Asp|1832/3527|1244/1689|415/562||;p3_1000G_AA=C|||;p3_1000G_AC=235;p3_1000G_AF=0.0469249;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=19218;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.0229;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117659292;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=191,4215;ESP6500_AA_AGE=121.3+/-158.8;ESP6500_AA_GTC=3,185,2015;ESP6500_CDS_SIZES=NM_025188.3:1743,NM_001145635.1:1689;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=87;ESP6500_EA_AC=176,8424;ESP6500_EA_AGE=80.6+/-143.3;ESP6500_EA_GTC=1,174,4125;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025188.3:missense,NM_001145635.1:missense;ESP6500_GL=TRIM45;ESP6500_GRCh38_POSITION=1:117116670;ESP6500_GS=94,94;ESP6500_GTC=4,359,6140;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025188.3:c.1298G>A,NM_001145635.1:c.1244G>A;ESP6500_HGVS_PROTEIN_VAR=NM_025188.3:p.(G433D),NM_001145635.1:p.(G415D);ESP6500_MAF=2.0465,4.335,2.8218;ESP6500_PH=possibly-damaging:0.73,possibly-damaging:0.73;ESP6500_TAC=367,12639	GT:AD:DP:GQ:PL	0/1:20,19:39:99:467,0,460
chr1	117117986	rs1289655	C	T	346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.68;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1289655;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|TRIM45|TRIM45|transcript|NM_025188.3|protein_coding|2/5|c.1222+48G>A||||||,T|intron_variant|MODIFIER|TRIM45|TRIM45|transcript|NM_001145635.1|protein_coding|2/5|c.1168+102G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4347;p3_1000G_AF=0.868011;p3_1000G_AFR_AF=0.7973;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=22328;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117660608;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3675,731;ESP6500_AA_AGE=300.7+/-286.5;ESP6500_AA_GTC=1538,599,66;ESP6500_CDS_SIZES=NM_025188.3:1743,NM_001145635.1:1689;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=75;ESP6500_EA_AC=7685,915;ESP6500_EA_AGE=202.3+/-245.6;ESP6500_EA_GTC=3429,827,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025188.3:intron,NM_001145635.1:intron;ESP6500_GL=TRIM45;ESP6500_GRCh38_POSITION=1:117117986;ESP6500_GTC=4967,1426,110;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025188.3:c.1222+48G>A,NM_001145635.1:c.1168+102G>A;ESP6500_MAF=10.6395,16.591,12.6557;ESP6500_TAC=11360,1646	GT:AD:DP:GQ:PL	1/1:0,10:10:30:375,30,0
chr1	117121291	rs3795655	C	T	213.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795655;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|TRIM45|TRIM45|transcript|NM_025188.3|protein_coding|1/6|c.-90G>A|||||90|,T|5_prime_UTR_variant|MODIFIER|TRIM45|TRIM45|transcript|NM_001145635.1|protein_coding|1/6|c.-90G>A|||||90|;p3_1000G_AA=T|||;p3_1000G_AC=3839;p3_1000G_AF=0.766573;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=14596;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.6441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117663913;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:242,18,0
chr1	117147650	rs10754339	G	A	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.154;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=-1.369;SOR=0.927;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10754339;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_024626.3|protein_coding|5/6|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253849.1|protein_coding|5/6|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253850.1|protein_coding|4/5|c.*8C>T|||||8|,A|non_coding_transcript_exon_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045603.1|pseudogene|5/6|n.1052C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045604.1|pseudogene|5/6|n.756C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3679;p3_1000G_AF=0.734625;p3_1000G_AFR_AF=0.2897;p3_1000G_AMR_AF=0.8718;p3_1000G_AN=5008;p3_1000G_DP=20130;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117690272;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8538;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1829,2577;ESP6500_AA_AGE=533.7+/-373.8;ESP6500_AA_GTC=395,1039,769;ESP6500_CDS_SIZES=NM_024626.3:849,NM_001253850.1:501,NM_001253849.1:564;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=82;ESP6500_EA_AC=7942,658;ESP6500_EA_AGE=790.0+/-407.6;ESP6500_EA_GTC=3672,598,30;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024626.3:utr-3,NM_001253850.1:utr-3,NM_001253849.1:utr-3;ESP6500_GL=VTCN1;ESP6500_GRCh38_POSITION=1:117147650;ESP6500_GTC=4067,1637,799;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024626.3:c.*8C>T,NM_001253850.1:c.*8C>T,NM_001253849.1:c.*8C>T;ESP6500_MAF=7.6512,41.5116,24.8731;ESP6500_TAC=9771,3235	GT:AD:DP:GQ:PL	0/1:22,6:28:99:106,0,662
chr1	117153415	rs2051047	G	A	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.129;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.149;SOR=1.227;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2051047;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_024626.3|protein_coding|3/5|c.446-46C>T||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253849.1|protein_coding|3/5|c.161-46C>T||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253850.1|protein_coding|2/4|c.98-46C>T||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045603.1|pseudogene|3/5|n.641-46C>T||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045604.1|pseudogene|3/5|n.465-166C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1326;p3_1000G_AF=0.264776;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=17821;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117696037;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2577,1827;ESP6500_AA_GTC=763,1051,388;ESP6500_CDS_SIZES=NM_024626.3:849,NM_001253850.1:501,NM_001253849.1:564;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=25;ESP6500_EA_AC=653,7947;ESP6500_EA_GTC=30,593,3677;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024626.3:intron,NM_001253850.1:intron,NM_001253849.1:intron;ESP6500_GL=VTCN1;ESP6500_GRCh38_POSITION=1:117153415;ESP6500_GTC=793,1644,4065;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024626.3:c.446-46C>T,NM_001253850.1:c.98-46C>T,NM_001253849.1:c.161-46C>T;ESP6500_MAF=7.593,41.485,24.8385;ESP6500_TAC=3230,9774	GT:AD:DP:GQ:PL	0/1:26,15:41:99:336,0,649
chr1	117153461	rs1325259790	ATT	A	151.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.62;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_024626.3|protein_coding|3/5|c.446-94_446-93delAA||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253849.1|protein_coding|3/5|c.161-94_161-93delAA||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253850.1|protein_coding|2/4|c.98-94_98-93delAA||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045603.1|pseudogene|3/5|n.641-94_641-93delAA||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045604.1|pseudogene|3/5|n.465-214_465-213delAA||||||	GT:AD:DP:GQ:PL	0/1:7,7:14:99:189,0,172
chr1	117153526	rs7543458	A	G	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.57;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-1.159;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7543458;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_024626.3|protein_coding|3/5|c.446-157T>C||||||,G|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253849.1|protein_coding|3/5|c.161-157T>C||||||,G|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253850.1|protein_coding|2/4|c.98-157T>C||||||,G|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045603.1|pseudogene|3/5|n.641-157T>C||||||,G|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045604.1|pseudogene|3/5|n.465-277T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1326;p3_1000G_AF=0.264776;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=17512;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117696148;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:126,0,250
chr1	117170007	rs6684046	T	A	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.99;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=0.13;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6684046;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_024626.3|protein_coding|2/5|c.97+100A>T||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253849.1|protein_coding|2/5|c.-189+100A>T||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253850.1|protein_coding|2/4|c.97+100A>T||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045603.1|pseudogene|2/5|n.202+100A>T||||||,A|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045604.1|pseudogene|2/5|n.202+100A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=841;p3_1000G_AF=0.167931;p3_1000G_AFR_AF=0.5136;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=19493;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117712629;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,19:29:99:0|1:117170007_T_A:521,0,305
chr1	117173365	rs140251705	A	AAC	525.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.694;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.21;ReadPosRankSum=1.54;SOR=0.776;INS;HET;VARTYPE=INS;dbSNP138_ID=rs140251705;dbSNPBuildID=134;ANN=AAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_024626.3|protein_coding|1/5|c.33-3196_33-3195dupGT||||||,AAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253849.1|protein_coding|1/5|c.-253-3196_-253-3195dupGT||||||,AAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253850.1|protein_coding|1/4|c.33-3196_33-3195dupGT||||||,AAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045603.1|pseudogene|1/5|n.138-3196_138-3195dupGT||||||,AAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045604.1|pseudogene|1/5|n.138-3196_138-3195dupGT||||||;p3_1000G_AC=3199;p3_1000G_AF=0.638778;p3_1000G_AFR_AF=0.6172;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=16293;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.5795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117715987;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5992;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:1,11:12:99:563,162,142
chr1	117173365	rs140251705	A	AACAC	525.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.694;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.21;ReadPosRankSum=1.54;SOR=0.776;INS;HET;VARTYPE=INS;dbSNP138_ID=rs140251705;dbSNPBuildID=134;ANN=AACAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_024626.3|protein_coding|1/5|c.33-3198_33-3195dupGTGT||||||,AACAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253849.1|protein_coding|1/5|c.-253-3198_-253-3195dupGTGT||||||,AACAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NM_001253850.1|protein_coding|1/4|c.33-3198_33-3195dupGTGT||||||,AACAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045603.1|pseudogene|1/5|n.138-3198_138-3195dupGTGT||||||,AACAC|intron_variant|MODIFIER|VTCN1|VTCN1|transcript|NR_045604.1|pseudogene|1/5|n.138-3198_138-3195dupGTGT||||||	GT:AD:DP:GQ:PL	0/1:1,6:7:99:563,303,333
chr1	117414666	rs1289948	A	G	382.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.44;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1289948;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|MAN1A2|MAN1A2|transcript|NM_006699.3|protein_coding|3/12|c.656-47A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3830;p3_1000G_AF=0.764776;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=13048;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.7555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117957288;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3808,574;ESP6500_AA_GTC=1657,494,40;ESP6500_CDS_SIZES=NM_006699.3:1926;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=36;ESP6500_EA_AC=6563,2023;ESP6500_EA_GTC=2510,1543,240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006699.3:intron;ESP6500_GL=MAN1A2;ESP6500_GRCh38_POSITION=1:117414666;ESP6500_GTC=4167,2037,280;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006699.3:c.656-47A>G;ESP6500_MAF=23.5616,13.099,20.0262;ESP6500_TAC=10371,2597	GT:AD:DP:GQ:PL	1/1:0,13:13:39:411,39,0
chr1	117442154	rs2306444	A	T	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.494;SOR=3.912;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306444;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MAN1A2|MAN1A2|transcript|NM_006699.3|protein_coding|5/12|c.856-77A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1445;p3_1000G_AF=0.288538;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=18653;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.2873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=117984776;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:185,0,112
chr1	117778022	rs1780028	A	G	670.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.64;QD=30.49;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1780028;dbSNPBuildID=89;ANN=G|intergenic_region|MODIFIER|FAM46C-GDAP2|FAM46C-GDAP2|intergenic_region|FAM46C-GDAP2|||n.117778022A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=4017;p3_1000G_AF=0.802117;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=19423;p3_1000G_EAS_AF=0.9147;p3_1000G_EUR_AF=0.8877;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118320644;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:699,66,0
chr1	117778237	rs1775749	T	A	591.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.89;QD=31.15;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1775749;dbSNPBuildID=89;ANN=A|intergenic_region|MODIFIER|FAM46C-GDAP2|FAM46C-GDAP2|intergenic_region|FAM46C-GDAP2|||n.117778237T>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=12708;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118320859;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:620,57,0
chr1	117778497	rs1655201	T	C	807.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.54;QD=36.46;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs114485606;dbSNPBuildID=89;ANN=C|intergenic_region|MODIFIER|FAM46C-GDAP2|FAM46C-GDAP2|intergenic_region|FAM46C-GDAP2|||n.117778497T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=4018;p3_1000G_AF=0.802316;p3_1000G_AFR_AF=0.5204;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=16662;p3_1000G_EAS_AF=0.9147;p3_1000G_EUR_AF=0.8877;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118321119;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:836,66,0
chr1	117778781	rs12029754	G	A	117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.88;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.605;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12029754;dbSNPBuildID=120;ANN=A|intergenic_region|MODIFIER|FAM46C-GDAP2|FAM46C-GDAP2|intergenic_region|FAM46C-GDAP2|||n.117778781G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=583;p3_1000G_AF=0.116414;p3_1000G_AFR_AF=0.121;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=16268;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.0308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118321403;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:146,0,187
chr1	117949904	rs2295629	G	A	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.777;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=-0.847;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2295629;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding||c.*13895C>T|||||3761|,A|intron_variant|MODIFIER|WDR3|WDR3|transcript|NM_006784.2|protein_coding|14/26|c.1610+68G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1166;p3_1000G_AF=0.232827;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=18716;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118492527;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,20:34:99:576,0,338
chr1	117954669	rs2295631	G	A	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.102;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.28;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2295631;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|WDR3|WDR3|transcript|NM_006784.2|protein_coding|23/26|c.2409+42G>A||||||,A|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|48/48|c.*1-620C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=427;p3_1000G_AF=0.0852636;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=17454;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118497292;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,14:27:99:288,0,342
chr1	117988173	rs12040811	C	T	825.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12040811;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|39/49|c.5553G>A|p.Gln1851Gln|5621/7125|5553/6672|1851/2223||;p3_1000G_AA=c|||;p3_1000G_AC=693;p3_1000G_AF=0.138379;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=19230;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.0626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118530796;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=216,4190;ESP6500_AA_AGE=131.0+/-167.6;ESP6500_AA_GTC=3,210,1990;ESP6500_CDS_SIZES=NM_206996.2:6672;ESP6500_CG=-3.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=496,8104;ESP6500_EA_AGE=142.3+/-198.5;ESP6500_EA_GTC=16,464,3820;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206996.2:coding-synonymous;ESP6500_GL=SPAG17;ESP6500_GRCh38_POSITION=1:117988173;ESP6500_GTC=19,674,5810;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206996.2:c.5553G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206996.2:p.(Q1851);ESP6500_MAF=5.7674,4.9024,5.4744;ESP6500_TAC=712,12294	GT:AD:DP:GQ:PL	1/1:0,28:28:84:854,84,0
chr1	117992353	rs12125318	T	C	269.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12125318;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|36/48|c.5361+113A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=685;p3_1000G_AF=0.136781;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=18305;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118534976;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:298,21,0
chr1	117994451	rs12031260	A	G	1643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12031260;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|35/49|c.5133T>C|p.Pro1711Pro|5201/7125|5133/6672|1711/2223||;p3_1000G_AA=A|||;p3_1000G_AC=643;p3_1000G_AF=0.128395;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=19044;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118537074;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=182,4224;ESP6500_AA_AGE=115.0+/-153.0;ESP6500_AA_GTC=4,174,2025;ESP6500_CDS_SIZES=NM_206996.2:6672;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=173;ESP6500_EA_AC=491,8107;ESP6500_EA_AGE=143.0+/-199.1;ESP6500_EA_GTC=16,459,3824;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206996.2:coding-synonymous;ESP6500_GL=SPAG17;ESP6500_GRCh38_POSITION=1:117994451;ESP6500_GTC=20,633,5849;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206996.2:c.5133T>C;ESP6500_HGVS_PROTEIN_VAR=NM_206996.2:p.(P1711);ESP6500_MAF=5.7106,4.1307,5.1753;ESP6500_TAC=673,12331	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1672,165,0
chr1	118007929	rs71663884	G	GA	817.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.55;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs71663884;dbSNPBuildID=138;ANN=GA|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|31/48|c.4587+114dupT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:118007929_G_GA:855,57,0
chr1	118007932	rs202006843	T	G	826.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.85;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs202006843;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|31/48|c.4587+112A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:118007929_G_GA:855,57,0
chr1	118007971	rs10923465	C	A	488.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.699;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=2.165;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-1.47;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10923465;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|31/48|c.4587+73G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=563;p3_1000G_AF=0.11242;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=20511;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118550594;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,18:33:99:517,0,481
chr1	118028466	rs17037839	C	A	515.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17037839;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|25/48|c.3610-72G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=690;p3_1000G_AF=0.13778;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=17973;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118571089;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:544,54,0
chr1	118037022	rs12119700	A	T	139.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12119700;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|23/48|c.3320-139T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=638;p3_1000G_AF=0.127396;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=16381;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118579645;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:167,12,0
chr1	118081058	rs113203651;rs530247427;rs879240236	TACAC	T	916.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.86;SOR=4.479;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs113203651;dbSNPBuildID=132,147,142;ANN=T|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|15/48|c.2209+39_2209+42delGTGT||||||	GT:AD:DP:GQ:PL	1/0:0,13:13:99:954,382,336
chr1	118081058	.	TACAC	TAC	916.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.86;SOR=4.479;DEL;HET;VARTYPE=DEL;ANN=TAC|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|15/48|c.2209+39_2209+40delGT||||||	GT:AD:DP:GQ:PL	0/1:0,13:13:99:954,454,380
chr1	118081500	rs2298176	C	T	3422.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=115;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=1.028;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2298176;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|14/49|c.1905G>A|p.Pro635Pro|1973/7125|1905/6672|635/2223||;p3_1000G_AA=T|||;p3_1000G_AC=633;p3_1000G_AF=0.126398;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=21696;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.0596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118624123;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=258,4148;ESP6500_AA_AGE=803.5+/-415.7;ESP6500_AA_GTC=6,246,1951;ESP6500_CDS_SIZES=NM_206996.2:6672;ESP6500_CG=-5.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=181;ESP6500_EA_AC=489,8111;ESP6500_EA_AGE=797.1+/-407.5;ESP6500_EA_GTC=16,457,3827;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206996.2:coding-synonymous;ESP6500_GL=SPAG17;ESP6500_GRCh38_POSITION=1:118081500;ESP6500_GTC=22,703,5778;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206996.2:c.1905G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206996.2:p.(P635);ESP6500_MAF=5.686,5.8557,5.7435;ESP6500_TAC=747,12259	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3451,344,0
chr1	118081713	rs12043257	T	C	719.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.531;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12043257;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|13/48|c.1763-71A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=677;p3_1000G_AF=0.135184;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=19045;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118624336;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:748,60,0
chr1	118086000	rs112542201	G	C	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.673;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-0.399;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112542201;dbSNPBuildID=132;ANN=C|missense_variant|MODERATE|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|13/49|c.1684C>G|p.Gln562Glu|1752/7125|1684/6672|562/2223||;p3_1000G_AA=G|||;p3_1000G_AC=78;p3_1000G_AF=0.0155751;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=18764;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118628623;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=133,4273;ESP6500_AA_AGE=94.4+/-133.1;ESP6500_AA_GTC=4,125,2074;ESP6500_CDS_SIZES=NM_206996.2:6672;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=153;ESP6500_EA_AC=18,8582;ESP6500_EA_AGE=13.3+/-46.6;ESP6500_EA_GTC=0,18,4282;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206996.2:missense;ESP6500_GL=SPAG17;ESP6500_GRCh38_POSITION=1:118086000;ESP6500_GS=29;ESP6500_GTC=4,143,6356;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_206996.2:c.1684C>G;ESP6500_HGVS_PROTEIN_VAR=NM_206996.2:p.(Q562E);ESP6500_MAF=0.2093,3.0186,1.161;ESP6500_PH=benign:0.001;ESP6500_TAC=151,12855	GT:AD:DP:GQ:PL	0/1:14,7:21:99:164,0,355
chr1	118086651	rs113756371	G	A	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.289;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.519;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113756371;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|12/48|c.1611+20C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=78;p3_1000G_AF=0.0155751;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=18124;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118629274;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=133,4273;ESP6500_AA_AGE=93.9+/-132.6;ESP6500_AA_GTC=4,125,2074;ESP6500_CDS_SIZES=NM_206996.2:6672;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=109;ESP6500_EA_AC=18,8582;ESP6500_EA_AGE=13.3+/-46.6;ESP6500_EA_GTC=0,18,4282;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206996.2:intron;ESP6500_GL=SPAG17;ESP6500_GRCh38_POSITION=1:118086651;ESP6500_GTC=4,143,6356;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_206996.2:c.1611+20C>T;ESP6500_MAF=0.2093,3.0186,1.161;ESP6500_TAC=151,12855	GT:AD:DP:GQ:PL	0/1:7,6:13:99:164,0,176
chr1	118086976	rs12142616	G	A	881.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12142616;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|11/49|c.1392C>T|p.Pro464Pro|1460/7125|1392/6672|464/2223||;p3_1000G_AA=G|||;p3_1000G_AC=660;p3_1000G_AF=0.131789;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=17193;p3_1000G_EAS_AF=0.2847;p3_1000G_EUR_AF=0.0596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118629599;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=339,4067;ESP6500_AA_AGE=175.1+/-204.6;ESP6500_AA_GTC=12,315,1876;ESP6500_CDS_SIZES=NM_206996.2:6672;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=124;ESP6500_EA_AC=489,8111;ESP6500_EA_AGE=143.0+/-199.1;ESP6500_EA_GTC=16,457,3827;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206996.2:coding-synonymous;ESP6500_GL=SPAG17;ESP6500_GRCh38_POSITION=1:118086976;ESP6500_GTC=28,772,5703;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_206996.2:c.1392C>T;ESP6500_HGVS_PROTEIN_VAR=NM_206996.2:p.(P464);ESP6500_MAF=5.686,7.6941,6.3663;ESP6500_TAC=828,12178	GT:AD:DP:GQ:PL	1/1:0,28:28:84:910,84,0
chr1	118101807	rs10754367	A	G	1435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10754367;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|5/49|c.567T>C|p.Asn189Asn|635/7125|567/6672|189/2223||;p3_1000G_AA=G|||;p3_1000G_AC=2824;p3_1000G_AF=0.563898;p3_1000G_AFR_AF=0.6906;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18672;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.5477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118644430;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3023,1383;ESP6500_AA_AGE=456.9+/-351.5;ESP6500_AA_GTC=1051,921,231;ESP6500_CDS_SIZES=NM_206996.2:6672;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=282;ESP6500_EA_AC=4844,3756;ESP6500_EA_AGE=534.2+/-382.6;ESP6500_EA_GTC=1369,2106,825;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206996.2:coding-synonymous;ESP6500_GL=SPAG17;ESP6500_GRCh38_POSITION=1:118101807;ESP6500_GTC=2420,3027,1056;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206996.2:c.567T>C;ESP6500_HGVS_PROTEIN_VAR=NM_206996.2:p.(N189);ESP6500_MAF=43.6744,31.389,39.5125;ESP6500_TAC=7867,5139	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1464,144,0
chr1	118115329	rs12133381	C	T	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.974;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.627;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12133381;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|SPAG17|SPAG17|transcript|NM_206996.2|protein_coding|4/49|c.428G>A|p.Arg143Gln|496/7125|428/6672|143/2223||;p3_1000G_AA=C|||;p3_1000G_AC=531;p3_1000G_AF=0.10603;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=15848;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.0586;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118657952;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=67,4337;ESP6500_AA_AGE=61.1+/-98.1;ESP6500_AA_GTC=0,67,2135;ESP6500_CDS_SIZES=NM_206996.2:6672;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=129;ESP6500_EA_AC=469,8131;ESP6500_EA_AGE=139.7+/-196.3;ESP6500_EA_GTC=15,439,3846;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206996.2:missense;ESP6500_GL=SPAG17;ESP6500_GRCh38_POSITION=1:118115329;ESP6500_GS=43;ESP6500_GTC=15,506,5981;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206996.2:c.428G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206996.2:p.(R143Q);ESP6500_MAF=5.4535,1.5213,4.1218;ESP6500_PH=possibly-damaging:0.681;ESP6500_TAC=536,12468	GT:AD:DP:GQ:PL	0/1:11,11:22:99:230,0,320
chr1	118885706	rs77347504	C	T	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.439;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.22;ReadPosRankSum=0.921;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77347504;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|TBX15|TBX15|transcript|NM_152380.2|protein_coding|7/7|c.707-190G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=415;p3_1000G_AF=0.0828674;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=18657;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.1123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119428329;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:86:86,0,156
chr1	118923652	rs4659129	A	G	776.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4659129;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|TBX15|TBX15|transcript|NM_152380.2|protein_coding|4/7|c.376-49T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3213;p3_1000G_AF=0.641573;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=23013;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.6839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119466275;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2604,1802;ESP6500_AA_AGE=639.0+/-397.0;ESP6500_AA_GTC=746,1112,345;ESP6500_CDS_SIZES=NM_152380.2:1491;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=62;ESP6500_EA_AC=5863,2737;ESP6500_EA_AGE=679.1+/-403.5;ESP6500_EA_GTC=1998,1867,435;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152380.2:intron;ESP6500_GL=TBX15;ESP6500_GRCh38_POSITION=1:118923652;ESP6500_GTC=2744,2979,780;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152380.2:c.376-49T>C;ESP6500_MAF=31.8256,40.8988,34.8993;ESP6500_TAC=8467,4539	GT:AD:DP:GQ:PL	1/1:0,21:21:63:805,63,0
chr1	119380908	rs2224995	A	C	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=1.1;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2224995;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|HAO2|HAO2|transcript|NM_001005783.2|protein_coding|2/8|c.32-170A>C||||||,C|intron_variant|MODIFIER|HAO2|HAO2|transcript|NM_016527.3|protein_coding|1/7|c.-8-170A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3348;p3_1000G_AF=0.66853;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=20029;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.6223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119923531;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:182,0,141
chr1	119381101	rs2275607	T	C	1073.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.127;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.919;SOR=0.632;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275607;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|HAO2|HAO2|transcript|NM_001005783.2|protein_coding|3/9|c.55T>C|p.Leu19Leu|371/1701|55/1095|19/364||,C|synonymous_variant|LOW|HAO2|HAO2|transcript|NM_016527.3|protein_coding|2/8|c.16T>C|p.Leu6Leu|151/1481|16/1056|6/351||;p3_1000G_AA=T|||;p3_1000G_AC=1794;p3_1000G_AF=0.358227;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=20465;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.5298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119923724;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=816,3590;ESP6500_AA_GTC=129,558,1516;ESP6500_CDS_SIZES=NM_016527.2:1056,NM_001005783.1:1056;ESP6500_CG=-9.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=183;ESP6500_EA_AC=4447,4153;ESP6500_EA_GTC=1166,2115,1019;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016527.2:coding-synonymous,NM_001005783.1:coding-synonymous;ESP6500_GL=HAO2;ESP6500_GRCh38_POSITION=1:119381101;ESP6500_GTC=1295,2673,2535;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016527.2:c.16T>C,NM_001005783.1:c.16T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016527.2:p.(L6),NM_001005783.1:p.(L6);ESP6500_MAF=48.2907,18.5202,40.4659;ESP6500_TAC=5263,7743	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1102,0,814
chr1	119382841	rs2298027	G	A	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.081;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=0.682;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298027;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HAO2|HAO2|transcript|NM_001005783.2|protein_coding|3/8|c.171-74G>A||||||,A|intron_variant|MODIFIER|HAO2|HAO2|transcript|NM_016527.3|protein_coding|2/7|c.132-74G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1783;p3_1000G_AF=0.35603;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=20135;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119925464;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:118,0,233
chr1	119385057	rs6667679	A	G	398.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.624;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=6.488;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=2.13;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6667679;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|HAO2|HAO2|transcript|NM_001005783.2|protein_coding|5/8|c.600+4A>G||||||,G|splice_region_variant&intron_variant|LOW|HAO2|HAO2|transcript|NM_016527.3|protein_coding|4/7|c.561+4A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3343;p3_1000G_AF=0.667532;p3_1000G_AFR_AF=0.7042;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=22150;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.6203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119927680;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3036,1370;ESP6500_AA_AGE=451.8+/-349.8;ESP6500_AA_GTC=1035,966,202;ESP6500_CDS_SIZES=NM_016527.2:1056,NM_001005783.1:1056;ESP6500_CG=-2.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=52;ESP6500_EA_AC=5364,3236;ESP6500_EA_AGE=485.5+/-371.6;ESP6500_EA_GTC=1671,2022,607;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016527.2:intron,NM_001005783.1:intron;ESP6500_GL=HAO2;ESP6500_GRCh38_POSITION=1:119385057;ESP6500_GTC=2706,2988,809;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016527.2:c.561+4A>G,NM_001005783.1:c.561+4A>G;ESP6500_MAF=37.6279,31.094,35.4144;ESP6500_TAC=8400,4606	GT:AD:DP:GQ:PL	0/1:17,16:33:99:427,0,502
chr1	119393640	rs3765949	G	A	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.969;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=1.66;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765949;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|HAO2|HAO2|transcript|NM_001005783.2|protein_coding|8/8|c.1040-145G>A||||||,A|intron_variant|MODIFIER|HAO2|HAO2|transcript|NM_016527.3|protein_coding|7/7|c.1001-145G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2048;p3_1000G_AF=0.408946;p3_1000G_AFR_AF=0.264;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=20679;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.5278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119936263;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:310,0,211
chr1	119514535	rs6203	C	T	2511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.66;QD=33.49;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6203;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|HSD3B1|HSD3B1|transcript|NM_000862.2|protein_coding|4/4|c.1012C>T|p.Leu338Leu|1157/1680|1012/1122|338/373||,T|synonymous_variant|LOW|HSD3B1|HSD3B1|transcript|NM_001328615.1|protein_coding|4/4|c.1012C>T|p.Leu338Leu|1107/1630|1012/1122|338/373||;p3_1000G_AA=C|||;p3_1000G_AC=1837;p3_1000G_AF=0.366813;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=21293;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120057158;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=457,3949;ESP6500_AA_AGE=217.4+/-235.8;ESP6500_AA_GTC=28,401,1774;ESP6500_CDS_SIZES=NM_000862.2:1122;ESP6500_CG=1.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=81;ESP6500_EA_AC=3730,4870;ESP6500_EA_AGE=530.5+/-381.8;ESP6500_EA_GTC=818,2094,1388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000862.2:coding-synonymous;ESP6500_GL=HSD3B1;ESP6500_GRCh38_POSITION=1:119514535;ESP6500_GTC=846,2495,3162;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000862.2:c.1012C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000862.2:p.(L338);ESP6500_MAF=43.3721,10.3722,32.1928;ESP6500_TAC=4187,8819	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2540,225,0
chr1	119514623	rs1047303;rs45609334	C	A	1837.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.61;QD=30.63;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1047303;dbSNPBuildID=127,86;ANN=A|missense_variant|MODERATE|HSD3B1|HSD3B1|transcript|NM_000862.2|protein_coding|4/4|c.1100C>A|p.Thr367Asn|1245/1680|1100/1122|367/373||,A|missense_variant|MODERATE|HSD3B1|HSD3B1|transcript|NM_001328615.1|protein_coding|4/4|c.1100C>A|p.Thr367Asn|1195/1630|1100/1122|367/373||;p3_1000G_AA=c|||;p3_1000G_AC=4174;p3_1000G_AF=0.833466;p3_1000G_AFR_AF=0.9145;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=20349;p3_1000G_EAS_AF=0.9177;p3_1000G_EUR_AF=0.66;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120057246;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3879,525;ESP6500_AA_GTC=1701,477,24;ESP6500_CDS_SIZES=NM_000862.2:1122;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=37;ESP6500_EA_AC=5860,2736;ESP6500_EA_GTC=2002,1856,440;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000862.2:missense;ESP6500_GL=HSD3B1;ESP6500_GRCh38_POSITION=1:119514623;ESP6500_GS=65;ESP6500_GTC=3703,2333,464;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000862.2:c.1100C>A;ESP6500_HGVS_PROTEIN_VAR=NM_000862.2:p.(T367N);ESP6500_MAF=31.8288,11.921,25.0846;ESP6500_PH=benign:0.021;ESP6500_TAC=9739,3261	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1866,180,0
chr1	119623203	rs12076924	C	T	1722.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=1.727;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12076924;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ZNF697|ZNF697|transcript|NM_001080470.1|protein_coding|3/3|c.1140G>A|p.Pro380Pro|1254/5080|1140/1638|380/545||;p3_1000G_AA=C|||;p3_1000G_AC=3585;p3_1000G_AF=0.715855;p3_1000G_AFR_AF=0.8434;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=11939;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120165826;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6667;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3641,753;ESP6500_AA_GTC=1528,585,84;ESP6500_CDS_SIZES=NM_001080470.1:1638;ESP6500_CG=-3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=12;ESP6500_EA_AC=5133,3433;ESP6500_EA_GTC=1565,2003,715;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080470.1:coding-synonymous;ESP6500_GL=ZNF697;ESP6500_GRCh38_POSITION=1:119623203;ESP6500_GTC=3093,2588,799;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080470.1:c.1140G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080470.1:p.(P380);ESP6500_MAF=40.077,17.137,32.2994;ESP6500_TAC=8774,4186	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1751,183,0
chr1	119624058	rs12067843	G	A	2304.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=0.801;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12067843;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|ZNF697|ZNF697|transcript|NM_001080470.1|protein_coding|3/3|c.285C>T|p.Ser95Ser|399/5080|285/1638|95/545||;p3_1000G_AA=A|||;p3_1000G_AC=3367;p3_1000G_AF=0.672324;p3_1000G_AFR_AF=0.7927;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=17732;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120166681;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3221,995;ESP6500_AA_GTC=1254,713,141;ESP6500_CDS_SIZES=NM_001080470.1:1638;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=61;ESP6500_EA_AC=4101,4351;ESP6500_EA_GTC=1011,2079,1136;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080470.1:coding-synonymous;ESP6500_GL=ZNF697;ESP6500_GRCh38_POSITION=1:119624058;ESP6500_GTC=2265,2792,1277;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080470.1:c.285C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001080470.1:p.(S95);ESP6500_MAF=48.5211,23.6006,42.2008;ESP6500_TAC=7322,5346	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2333,228,0
chr1	119711922	rs562038;292300	G	C	590.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs562038;dbSNPBuildID=83;ANN=C|5_prime_UTR_variant|MODIFIER|PHGDH|PHGDH|transcript|NM_006623.3|protein_coding|1/12|c.-101G>C|||||101|;p3_1000G_AA=C|||;p3_1000G_AC=4094;p3_1000G_AF=0.817492;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=17202;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.6859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120254545;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP;CLINVAR_ALLELEID=276166;CLINVAR_CLNDISDB=MedGen:C1866174,OMIM:601815;CLINVAR_CLNDN=Phosphoglycerate_dehydrogenase_deficiency;CLINVAR_CLNHGVS=NC_000001.11:g.119711922G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2247;CLINVAR_GENEINFO=PHGDH:26227;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=562038	GT:AD:DP:GQ:PL	1/1:0,16:16:48:619,48,0
chr1	119742923	rs543703;292321	G	A	1976.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=0.899;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs543703;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|PHGDH|PHGDH|transcript|NM_006623.3|protein_coding|11/12|c.1326G>A|p.Thr442Thr|1553/2015|1326/1602|442/533||;p3_1000G_AA=A|||;p3_1000G_AC=3617;p3_1000G_AF=0.722244;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.7478;p3_1000G_AN=5008;p3_1000G_DP=20245;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120285546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3313,1093;ESP6500_AA_GTC=1249,815,139;ESP6500_CDS_SIZES=NM_006623.3:1602;ESP6500_CG=-11.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=61;ESP6500_EA_AC=5870,2730;ESP6500_EA_GTC=1986,1898,416;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006623.3:coding-synonymous;ESP6500_GL=PHGDH;ESP6500_GRCh38_POSITION=1:119742923;ESP6500_GTC=3235,2713,555;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006623.3:c.1326G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006623.3:p.(T442);ESP6500_MAF=31.7442,24.8071,29.3941;ESP6500_TAC=9183,3823;CLINVAR_ALLELEID=276452;CLINVAR_CLNDISDB=MedGen:C1866174,OMIM:601815|MedGen:CN517202;CLINVAR_CLNDN=Phosphoglycerate_dehydrogenase_deficiency|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.119742923G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2259;CLINVAR_GENEINFO=PHGDH:26227;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=543703	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2005,186,0
chr1	119750744	rs667246	T	C	2336.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.16;SOR=1.319;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs667246;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|HMGCS2|HMGCS2|transcript|NM_005518.3|protein_coding|9/9|c.*5+53A>G||||||,C|intron_variant|MODIFIER|HMGCS2|HMGCS2|transcript|NM_001166107.1|protein_coding|8/8|c.*5+53A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3449;p3_1000G_AF=0.688698;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=19106;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.671;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120293367;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2365,224,0
chr1	119794761	rs947270	T	C	190.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs947270;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|REG4|REG4|transcript|NM_001159352.1|protein_coding|6/6|c.410-76A>G||||||,C|intron_variant|MODIFIER|REG4|REG4|transcript|NM_032044.3|protein_coding|5/5|c.410-76A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2297;p3_1000G_AF=0.458666;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=21798;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.4394;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120337384;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:219,18,0
chr1	119794780	rs947271	A	G	148.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs947271;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|REG4|REG4|transcript|NM_001159352.1|protein_coding|6/6|c.410-95T>C||||||,G|intron_variant|MODIFIER|REG4|REG4|transcript|NM_032044.3|protein_coding|5/5|c.410-95T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2299;p3_1000G_AF=0.459065;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=21479;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120337403;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:177,15,0
chr1	119836055	rs3009182	C	T	1448.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=0.909;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3009182;dbSNPBuildID=101;ANN=T|synonymous_variant|LOW|NBPF7|NBPF7|transcript|NM_001047980.2|protein_coding|7/8|c.1068G>A|p.Gln356Gln|1413/1611|1068/1266|356/421||;p3_1000G_AA=c|||;p3_1000G_AC=3147;p3_1000G_AF=0.628395;p3_1000G_AFR_AF=0.4107;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=21246;p3_1000G_EAS_AF=0.4673;p3_1000G_EUR_AF=0.8121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120378678;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1873,2051;ESP6500_AA_GTC=447,979,536;ESP6500_CDS_SIZES=NM_001047980.1:1266;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=110;ESP6500_EA_AC=6573,1731;ESP6500_EA_GTC=2608,1357,187;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001047980.1:coding-synonymous;ESP6500_GL=NBPF7;ESP6500_GRCh38_POSITION=1:119836055;ESP6500_GTC=3055,2336,723;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001047980.1:c.1068G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001047980.1:p.(Q356);ESP6500_MAF=20.8454,47.7319,30.929;ESP6500_TAC=8446,3782	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1477,147,0
chr1	119837385	rs3009184	T	A	600.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3009184;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|NBPF7|NBPF7|transcript|NM_001047980.2|protein_coding|5/7|c.839-26A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=3130;p3_1000G_AF=0.625;p3_1000G_AFR_AF=0.3979;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=19163;p3_1000G_EAS_AF=0.4673;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120380008;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1960,2144;ESP6500_AA_GTC=476,1008,568;ESP6500_CDS_SIZES=NM_001047980.1:1266;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=54;ESP6500_EA_AC=6681,1763;ESP6500_EA_GTC=2648,1385,189;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001047980.1:intron;ESP6500_GL=NBPF7;ESP6500_GRCh38_POSITION=1:119837385;ESP6500_GTC=3124,2393,757;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001047980.1:c.839-26A>T;ESP6500_MAF=20.8787,47.7583,31.1364;ESP6500_TAC=8641,3907	GT:AD:DP:GQ:PL	1/1:0,22:22:66:629,66,0
chr1	119839498	rs2226084	C	T	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2226084;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|NBPF7|NBPF7|transcript|NM_001047980.2|protein_coding|4/7|c.627-103G>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=3121;p3_1000G_AF=0.623203;p3_1000G_AFR_AF=0.3926;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=21225;p3_1000G_EAS_AF=0.4673;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120382121;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:535,48,0
chr1	119841582	rs2994820	A	G	1920.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.7;SOR=0.877;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2994820;dbSNPBuildID=101;ANN=G|synonymous_variant|LOW|NBPF7|NBPF7|transcript|NM_001047980.2|protein_coding|3/8|c.357T>C|p.Val119Val|702/1611|357/1266|119/421||;p3_1000G_AA=a|||;p3_1000G_AC=3130;p3_1000G_AF=0.625;p3_1000G_AFR_AF=0.3979;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=21939;p3_1000G_EAS_AF=0.4673;p3_1000G_EUR_AF=0.8121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120384205;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1996,2410;ESP6500_AA_AGE=537.5+/-374.7;ESP6500_AA_GTC=469,1058,676;ESP6500_CDS_SIZES=NM_001047980.1:1266;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=133;ESP6500_EA_AC=6796,1800;ESP6500_EA_AGE=725.8+/-406.6;ESP6500_EA_GTC=2695,1406,197;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001047980.1:coding-synonymous;ESP6500_GL=NBPF7;ESP6500_GRCh38_POSITION=1:119841582;ESP6500_GTC=3164,2464,873;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001047980.1:c.357T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001047980.1:p.(V119);ESP6500_MAF=20.94,45.3019,32.3796;ESP6500_TAC=8792,4210	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1949,170,0
chr1	119841767	rs151338084	T	A	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=1.23;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs151338084;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|NBPF7|NBPF7|transcript|NM_001047980.2|protein_coding|2/7|c.339-167A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=57;p3_1000G_AF=0.0113818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20646;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120384390;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:259,0,177
chr1	119844497	rs12405228	G	A	1268.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12405228;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|NBPF7|NBPF7|transcript|NM_001047980.2|protein_coding|1/8|c.39C>T|p.Thr13Thr|384/1611|39/1266|13/421||;p3_1000G_AA=g|||;p3_1000G_AC=1793;p3_1000G_AF=0.358027;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=19791;p3_1000G_EAS_AF=0.3641;p3_1000G_EUR_AF=0.5835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120387120;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=529,3737;ESP6500_AA_GTC=49,431,1653;ESP6500_CDS_SIZES=NM_001047980.1:1266;ESP6500_CG=0.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=84;ESP6500_EA_AC=4846,3696;ESP6500_EA_GTC=1390,2066,815;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001047980.1:coding-synonymous;ESP6500_GL=NBPF7;ESP6500_GRCh38_POSITION=1:119844497;ESP6500_GTC=1439,2497,2468;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001047980.1:c.39C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001047980.1:p.(T13);ESP6500_MAF=43.2686,12.4004,41.966;ESP6500_TAC=5375,7433	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1297,102,0
chr1	119847448	rs3009191	T	C	146.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.37;QD=29.38;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3009191;dbSNPBuildID=101;ANN=C|upstream_gene_variant|MODIFIER|NBPF7|NBPF7|transcript|NM_001047980.2|protein_coding||c.-2913A>G|||||2568|,C|intergenic_region|MODIFIER|NBPF7-ADAM30|NBPF7-ADAM30|intergenic_region|NBPF7-ADAM30|||n.119847448T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=3880;p3_1000G_AF=0.77476;p3_1000G_AFR_AF=0.9357;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=20115;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.8181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120390071;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:175,15,0
chr1	119861991	rs3850866	T	C	151.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.31;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3850866;dbSNPBuildID=108;ANN=C|intergenic_region|MODIFIER|NBPF7-ADAM30|NBPF7-ADAM30|intergenic_region|NBPF7-ADAM30|||n.119861991T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2716;p3_1000G_AF=0.542332;p3_1000G_AFR_AF=0.3585;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=18118;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.7396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120404614;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:180,18,0
chr1	119925802	rs17024525;261703	G	A	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.073;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.7;ReadPosRankSum=-2.211;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17024525;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|NOTCH2|NOTCH2|transcript|NM_024408.3|protein_coding|25/34|c.4014C>T|p.Ser1338Ser|4311/11466|4014/7416|1338/2471||;p3_1000G_AA=g|||;p3_1000G_AC=179;p3_1000G_AF=0.0357428;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=19191;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120468425;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=51,4351;ESP6500_AA_GTC=0,51,2150;ESP6500_CDS_SIZES=NM_024408.3:7416;ESP6500_CG=-11.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=24;ESP6500_EA_AC=16,8568;ESP6500_EA_GTC=0,16,4276;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024408.3:coding-synonymous;ESP6500_GL=NOTCH2;ESP6500_GRCh38_POSITION=1:119925802;ESP6500_GTC=0,67,6426;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024408.3:c.4014C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024408.3:p.(S1338);ESP6500_MAF=0.1864,1.1586,0.5159;ESP6500_TAC=67,12919;CLINVAR_AF_ESP=0.0052;CLINVAR_AF_EXAC=0.01770;CLINVAR_AF_TGP=0.0357;CLINVAR_ALLELEID=249379;CLINVAR_CLNDISDB=MedGen:C0917715,OMIM:102500,SNOMED_CT:63122002|MedGen:CN169374;CLINVAR_CLNDN=Hajdu-Cheney_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.119925802G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NOTCH2:4853;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17024525	GT:AD:DP:GQ:PL	0/1:10,4:14:99:108,0,297
chr1	119935662	rs5025718	T	C	726.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5025718;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|NOTCH2|NOTCH2|transcript|NM_024408.3|protein_coding|21/33|c.3523-58A>G||||||,C|intron_variant|MODIFIER|NOTCH2|NOTCH2|transcript|NM_001200001.1|protein_coding|21/21|c.3523-58A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3027;p3_1000G_AF=0.604433;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=22420;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.8658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120478285;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:755,63,0
chr1	119937771	rs2453057	T	C	309.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2453057;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NOTCH2|NOTCH2|transcript|NM_024408.3|protein_coding|20/33|c.3337+86A>G||||||,C|intron_variant|MODIFIER|NOTCH2|NOTCH2|transcript|NM_001200001.1|protein_coding|20/21|c.3337+86A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4901;p3_1000G_AF=0.978634;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17490;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120480394;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:338,30,0
chr1	119969481	rs2493409	T	C	827.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2493409;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NOTCH2|NOTCH2|transcript|NM_024408.3|protein_coding|6/33|c.1108+30A>G||||||,C|intron_variant|MODIFIER|NOTCH2|NOTCH2|transcript|NM_001200001.1|protein_coding|6/21|c.1108+30A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4901;p3_1000G_AF=0.978634;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20125;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120512104;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4068,338;ESP6500_AA_AGE=169.8+/-200.3;ESP6500_AA_GTC=1879,310,14;ESP6500_CDS_SIZES=NM_024408.3:7416,NM_001200001.1:3708;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=8594,6;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4294,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024408.3:intron,NM_001200001.1:intron;ESP6500_GL=NOTCH2;ESP6500_GRCh38_POSITION=1:119969481;ESP6500_GTC=6173,316,14;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024408.3:c.1108+30A>G,NM_001200001.1:c.1108+30A>G;ESP6500_MAF=0.0698,7.6714,2.6449;ESP6500_TAC=12662,344	GT:AD:DP:GQ:PL	1/1:0,24:24:72:856,72,0
chr1	120233304	rs1173834517	A	G	58.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=19.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|SEC22B-PFN1P2|SEC22B-PFN1P2|intergenic_region|SEC22B-PFN1P2|||n.120233304A>G||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:86,9,0
chr1	120258388	rs1164159946	T	C	315.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.45;QD=32.97;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|SEC22B-PFN1P2|SEC22B-PFN1P2|intergenic_region|SEC22B-PFN1P2|||n.120258388T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:120258388_T_C:344,27,0
chr1	120258396	rs1426255757	T	C	185.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=30.53;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|SEC22B-PFN1P2|SEC22B-PFN1P2|intergenic_region|SEC22B-PFN1P2|||n.120258396T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:15:1|1:120258388_T_C:214,15,0
chr1	120341551	rs72631787	A	G	47.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=23.04;QD=15.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=130;ANN=G|intergenic_region|MODIFIER|SEC22B-PFN1P2|SEC22B-PFN1P2|intergenic_region|SEC22B-PFN1P2|||n.120341551A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2720;p3_1000G_AF=0.543131;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=7717;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=144520608;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:75,9,0
chr1	120341575	rs146768535	T	C	55.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=23.04;QD=18.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=134;ANN=C|intergenic_region|MODIFIER|SEC22B-PFN1P2|SEC22B-PFN1P2|intergenic_region|SEC22B-PFN1P2|||n.120341575T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4077;p3_1000G_AF=0.814097;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=8501;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.8767;p3_1000G_GRCH37_POS=144520632;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:83,9,0
chr1	120341860	rs587748106	G	A	301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.609;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.8;MQRankSum=-2.117;QD=10.41;ReadPosRankSum=-0.241;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intergenic_region|MODIFIER|SEC22B-PFN1P2|SEC22B-PFN1P2|intergenic_region|SEC22B-PFN1P2|||n.120341860G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=59;p3_1000G_AF=0.0117812;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=9763;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=144520917;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,13:29:99:330,0,473
chr1	120436530	rs9441132	T	G	1507.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.96;QD=32.08;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|1/20|c.8T>G|p.Val3Gly|180/4624|8/2829|3/942||,G|upstream_gene_variant|MODIFIER|PFN1P2|PFN1P2|transcript|NR_003242.3|pseudogene||n.-2421A>C|||||2421|,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|1/19|n.180T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|1/18|n.180T>G||||||	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1536,141,0
chr1	120436644	rs781975064	G	A	1378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.92;QD=29.97;SOR=2.11;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|1/20|c.122G>A|p.Arg41Lys|294/4624|122/2829|41/942||,A|upstream_gene_variant|MODIFIER|PFN1P2|PFN1P2|transcript|NR_003242.3|pseudogene||n.-2535C>T|||||2535|,A|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|1/19|n.294G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|1/18|n.294G>A||||||	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1407,138,0
chr1	120441486	rs61810898	T	C	29.75	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=23.55;QD=14.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|5/20|c.775T>C|p.Ser259Pro|947/4624|775/2829|259/942||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|1/17|n.348-4343T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|5/19|n.947T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3614;p3_1000G_AF=0.721645;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=27247;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.6531;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=144620091;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0
chr1	120445891	rs1285260426	A	G	106.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.06;QD=26.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|5/19|c.779-3302A>G||||||,G|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|5/18|n.951-3302A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|2/18|n.410A>G||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:134,12,0
chr1	120449053	rs1446912871	G	C	94.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.852;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.36;MQRankSum=0.852;QD=8.62;ReadPosRankSum=0.551;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|5/19|c.779-140G>C||||||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|5/18|n.951-140G>C||||||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|4/17|n.848-140G>C||||||	GT:AD:DP:GQ:PL	0/1:7,4:11:99:123,0,204
chr1	120449099	rs3979895	A	C	81.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.563;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=32.03;MQRankSum=-1.691;QD=5.84;ReadPosRankSum=0.321;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|5/19|c.779-94A>C||||||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|5/18|n.951-94A>C||||||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|4/17|n.848-94A>C||||||	GT:AD:DP:GQ:PL	0/1:9,5:14:99:110,0,290
chr1	120449120	rs1475379498	C	A	52.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.611;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.46;MQRankSum=-0.372;QD=2.4;ReadPosRankSum=-0.628;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|5/19|c.779-73C>A||||||,A|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|5/18|n.951-73C>A||||||,A|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|4/17|n.848-73C>A||||||	GT:AD:DP:GQ:PL	0/1:17,5:22:81:81,0,483
chr1	120449154	rs1368930952	GT	G	154.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.934;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27.96;MQRankSum=-1.42;QD=4.55;ReadPosRankSum=-0.625;SOR=0.138;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|5/19|c.779-34delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|5/18|n.951-34delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|4/17|n.848-34delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:25,9:34:99:192,0,712
chr1	120449349	rs782532509	A	G	160.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.12;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=7.18;MLEAC=1;MLEAF=0.5;MQ=41.31;MQRankSum=-1.426;QD=1.83;ReadPosRankSum=0.282;SOR=1.905;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|6/20|c.935A>G|p.Lys312Arg|1107/4624|935/2829|312/942||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|6/19|n.1107A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|5/18|n.1004A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:77,11:88:99:0|1:120449349_A_G:189,0,3146
chr1	120449357	rs3979893	C	G	117.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.411;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=10.853;MLEAC=1;MLEAF=0.5;MQ=41.93;MQRankSum=-1.184;QD=1.4;ReadPosRankSum=-0.589;SOR=2.517;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|6/20|c.943C>G|p.Leu315Val|1115/4624|943/2829|315/942||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|6/19|n.1115C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|5/18|n.1012C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:75,9:84:99:0|1:120449349_A_G:146,0,3131
chr1	120449388	rs587605093	G	A	1694.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.527;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.907;MLEAC=1;MLEAF=0.5;MQ=43.81;MQRankSum=3.98;QD=30.81;ReadPosRankSum=1.3;SOR=1.312;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|6/20|c.974G>A|p.Arg325Gln|1146/4624|974/2829|325/942||,A|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|6/19|n.1146G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|5/18|n.1043G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201278;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=23893;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=1.0;p3_1000G_GRCH37_POS=144811943;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,43:55:99:0|1:120449388_G_A:1723,0,374
chr1	120449389	rs587681687	A	G	1694.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.728;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.863;MLEAC=1;MLEAF=0.5;MQ=43.79;MQRankSum=3.97;QD=31.38;ReadPosRankSum=1.22;SOR=1.259;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|synonymous_variant|LOW|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|6/20|c.975A>G|p.Arg325Arg|1147/4624|975/2829|325/942||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|6/19|n.1147A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|5/18|n.1044A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201278;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=23844;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=1.0;p3_1000G_GRCH37_POS=144811944;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,42:54:99:0|1:120449388_G_A:1723,0,374
chr1	120449395	rs587738688	C	G	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=3.122;MLEAC=1;MLEAF=0.5;MQ=44.32;MQRankSum=-4.592;QD=3.31;ReadPosRankSum=-1.233;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|6/20|c.981C>G|p.Asn327Lys|1153/4624|981/2829|327/942||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|6/19|n.1153C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|5/18|n.1050C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=24180;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=144811950;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,10:48:99:187,0,1608
chr1	120449413	rs28458244	C	T	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.266;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.74;MQRankSum=-4.372;QD=2.04;ReadPosRankSum=-0.93;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|6/19|c.988+11C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|6/18|n.1160+11C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|5/17|n.1057+11C>T||||||	GT:AD:DP:GQ:PL	0/1:37,8:45:99:120,0,1081
chr1	120451356	rs374935552	C	T	32.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25;QD=16.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|7/19|c.1091+74C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|7/18|n.1263+74C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|6/17|n.1160+74C>T||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0
chr1	120452200	rs3882061	T	G	447.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.48;QD=31.61;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|8/20|c.1175T>G|p.Leu392Arg|1347/4624|1175/2829|392/942||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|8/19|n.1347T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|7/18|n.1244T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=5007;p3_1000G_AF=0.999800319;p3_1000G_AFR_AF=1.0;p3_1000G_AMR_AF=1.0;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs587735550;p3_1000G_DP=24240;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1.0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=144814763;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_NEW_ALLELE;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:476,36,0
chr1	120453547	rs587648932	T	C	1702.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.62;QD=29.87;SOR=2.428;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|9/19|c.1379+103T>C||||||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|9/18|n.1551+103T>C||||||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|8/17|n.1448+103T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=5005;p3_1000G_AF=0.999400958;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=1.0;p3_1000G_AN=5008;p3_1000G_DP=19829;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=1.0;p3_1000G_GRCH37_POS=144816111;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1731,170,0
chr1	120453877	rs1352197745	T	A	322.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.55;QD=26.9;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|9/19|c.1380-32T>A||||||,A|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|9/18|n.1552-32T>A||||||,A|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|8/17|n.1449-32T>A||||||	GT:AD:DP:GQ:PL	1/1:0,12:12:36:351,36,0
chr1	120455446	rs782488905	A	G	168.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.18;QD=28.14;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|synonymous_variant|LOW|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|11/20|c.1623A>G|p.Gly541Gly|1795/4624|1623/2829|541/942||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|11/19|n.1795A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|10/18|n.1692A>G||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:18:197,18,0
chr1	120460621	rs587696045	C	A	676.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.878;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=3.74;MLEAC=1;MLEAF=0.5;MQ=39.91;MQRankSum=-0.449;QD=10.92;ReadPosRankSum=0.358;SOR=0.315;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|13/20|c.1850C>A|p.Pro617His|2022/4624|1850/2829|617/942||,A|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|12/19|n.1858C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|11/18|n.1755C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=33426;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=144823176;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,30:62:99:705,0,902
chr1	120460742	rs12116474	C	T	403.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.82;QD=26.92;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|13/19|c.1853+118C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|12/18|n.1861+118C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|11/17|n.1758+118C>T||||||	GT:AD:DP:GQ:PL	1/1:0,15:15:45:432,45,0
chr1	120460850	rs200962655	C	T	302.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.17;QD=23.29;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|13/19|c.1853+226C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|12/18|n.1861+226C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|11/17|n.1758+226C>T||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:38:331,38,0
chr1	120462305	rs1332719277	A	T	241.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.18;QD=26.86;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|15/19|c.2078+108A>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|14/18|n.2086+108A>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|13/17|n.1983+108A>T||||||	GT:AD:DP:GQ:PL	1/1:0,9:9:27:270,27,0
chr1	120462952	rs1374488778	C	T	82.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=27.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|16/20|c.2237C>T|p.Ala746Val|2409/4624|2237/2829|746/942||,T|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|15/19|n.2245C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|14/18|n.2142C>T||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:110,9,0
chr1	120464321	rs1453664267	T	C	388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.19;QD=32.4;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|17/19|c.2304-55T>C||||||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|16/18|n.2312-55T>C||||||,C|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|15/17|n.2209-55T>C||||||	GT:AD:DP:GQ:PL	1/1:0,12:12:36:417,36,0
chr1	120464366	rs1434063400	C	T	483.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.48;QD=34.55;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NM_001037501.2|protein_coding|17/19|c.2304-10C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102404.1|pseudogene|16/18|n.2312-10C>T||||||,T|intron_variant|MODIFIER|NBPF8|NBPF8|transcript|NR_102405.1|pseudogene|15/17|n.2209-10C>T||||||	GT:AD:DP:GQ:PL	1/1:0,14:14:42:512,42,0
chr1	120489796	rs113954821	T	G	763.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.9;QD=31.82;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=132;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120489796T>G||||||	GT:AD:DP:GQ:PL	1/1:0,24:24:72:792,72,0
chr1	120491981	rs147331822	A	G	879.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.65;QD=30.34;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=134;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120491981A>G||||||	GT:AD:DP:GQ:PL	1/1:0,29:29:87:908,87,0
chr1	120506035	rs1397067622	T	C	544.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.93;QD=30.26;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120506035T>C||||||	GT:AD:DP:GQ:PL	1/1:0,18:18:54:573,54,0
chr1	120517128	rs1336851064	T	C	83.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.11;QD=20.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120517128T>C||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:111,12,0
chr1	120524147	rs2296230	G	T	511.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.11;QD=28.43;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=100;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120524147G>T||||||	GT:AD:DP:GQ:PL	1/1:0,18:18:54:540,54,0
chr1	120542069	rs1433458373	CA	C	1761.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.49;QD=28.4;SOR=0.866;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120542070delA||||||	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1799,144,0
chr1	120548378	rs1344893307	G	A	369.31	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.864;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.27;MQRankSum=-1.423;QD=26.38;ReadPosRankSum=-0.466;SOR=2.448;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120548378G>A||||||	GT:AD:DP:GQ:PL	0/1:1,13:14:1:395,0,1
chr1	120550183	rs1315390325	GT	G	149.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.76;QD=29.97;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120550184delT||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:187,15,0
chr1	120557522	rs1336123220	C	T	130.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.92;QD=26.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120557522C>T||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:159,15,0
chr1	120557896	rs1235801770	T	A	1049.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.64;QD=33.86;SOR=3.477;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120557896T>A||||||	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1078,93,0
chr1	120639852	rs1335517837	A	G	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.46;QD=33.26;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120639852A>G||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:261,21,0
chr1	120639942	rs1202381835	G	GA	30.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.392;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.83;MQRankSum=-1.55;QD=2.56;ReadPosRankSum=0.738;SOR=0.551;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=GA|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120639942_120639943insA||||||	GT:AD:DP:GQ:PL	0/1:8,4:12:68:68,0,173
chr1	120640081	rs1320158655	A	AC	164.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.35;QD=32.97;SOR=1.022;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=AC|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120640081_120640082insC||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:202,15,0
chr1	120664362	rs1339575807	G	A	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.68;MQRankSum=-0.319;QD=1.39;ReadPosRankSum=0.921;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120664362G>A||||||	GT:AD:DP:GQ:PL	0/1:6,2:8:39:39,0,187
chr1	120664427	rs1430600607	G	T	220.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.642;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.94;MQRankSum=-1.384;QD=12.26;ReadPosRankSum=0.305;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120664427G>T||||||	GT:AD:DP:GQ:PL	0/1:8,10:18:99:249,0,191
chr1	120701202	rs1171331638	A	G	30.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=15.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120701202A>G||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:58,6,0
chr1	120701281	rs1309329767	C	G	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.38;MQRankSum=-0.303;QD=2.41;ReadPosRankSum=-0.967;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120701281C>G||||||	GT:AD:DP:GQ:PL	0/1:5,2:7:45:45,0,107
chr1	120724152	rs1308070372	A	C	156.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.7;QD=22.4;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120724152A>C||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:185,21,0
chr1	120793448	rs1387085969	A	T	2312.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.23;QD=30.42;SOR=1.888;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120793448A>T||||||	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2341,187,0
chr1	120793903	rs1225612053	A	C	394.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=28.29;QD=30.37;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120793903A>C||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:39:423,39,0
chr1	120805654	rs1334818792	G	C	1681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.77;QD=30.58;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120805654G>C||||||	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1710,164,0
chr1	120807549	rs1325315495	A	G	914.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.96;QD=32.67;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120807549A>G||||||	GT:AD:DP:GQ:PL	1/1:0,28:28:84:943,84,0
chr1	120807627	rs782288946	C	G	34.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.835;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=4.614;MLEAC=1;MLEAF=0.5;MQ=37.89;MQRankSum=-1.974;QD=0.45;ReadPosRankSum=1.04;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120807627C>G||||||	GT:AD:DP:GQ:PL	0/1:66,12:78:63:63,0,1838
chr1	120807784	rs1345681814	C	T	644.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-2.798;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.75;MQRankSum=2.25;QD=28.01;ReadPosRankSum=-0.466;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120807784C>T||||||	GT:AD:DP:GQ:PL	1/1:2,21:23:9:672,9,0
chr1	120808420	rs587715150	A	C	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=54.41;MQRankSum=-2.362;QD=2.62;ReadPosRankSum=0;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120808420A>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=51674;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=145296232;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:57:0|1:120808420_A_C:57,0,372
chr1	120808423	rs1191936474	G	A	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.875;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=54.41;MQRankSum=-2.362;QD=2.62;ReadPosRankSum=0;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120808423G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:57:0|1:120808420_A_C:57,0,372
chr1	120808586	rs782336253	C	T	67.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.724;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.075;MLEAC=1;MLEAF=0.5;MQ=32.64;MQRankSum=-0.198;QD=2.51;ReadPosRankSum=-1.186;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120808586C>T||||||	GT:AD:DP:GQ:PL	0/1:20,7:27:96:96,0,485
chr1	120809853	rs1349857272	A	C	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.27;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=10.288;MLEAC=1;MLEAF=0.5;MQ=46.25;MQRankSum=-6.169;QD=3.22;ReadPosRankSum=0.184;SOR=2.124;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120809853A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:85,16:101:99:0|1:120809853_A_C:353,0,5461
chr1	120809863	rs782001396	A	G	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.1;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=14.658;MLEAC=1;MLEAF=0.5;MQ=48.26;MQRankSum=-5.791;QD=2.7;ReadPosRankSum=0.284;SOR=2.748;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120809863A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:86,13:99:99:0|1:120809853_A_C:296,0,5844
chr1	120809865	rs1159820458	T	G	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.51;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=14.716;MLEAC=1;MLEAF=0.5;MQ=48.4;MQRankSum=-5.798;QD=2.53;ReadPosRankSum=0.328;SOR=2.791;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120809865T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:87,13:100:99:0|1:120809853_A_C:281,0,5765
chr1	120809867	rs1183412097	G	A	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.062;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=14.762;MLEAC=1;MLEAF=0.5;MQ=48.55;MQRankSum=-5.754;QD=2.63;ReadPosRankSum=0.03;SOR=2.789;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120809867G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:83,13:96:99:0|1:120809853_A_C:281,0,5765
chr1	120810008	rs1322258405	T	A	1048.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.514;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=2.099;MLEAC=1;MLEAF=0.5;MQ=50.23;MQRankSum=-4.504;QD=12.79;ReadPosRankSum=0.183;SOR=0.466;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120810008T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:52,30:82:99:0|1:120810008_T_A:1077,0,2873
chr1	120810009	rs1283420080	C	T	1048.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.322;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=2.099;MLEAC=1;MLEAF=0.5;MQ=50.23;MQRankSum=-4.504;QD=12.79;ReadPosRankSum=0.437;SOR=0.466;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120810009C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:52,30:82:99:0|1:120810008_T_A:1077,0,2873
chr1	120810328	rs1441765798	G	T	79.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.968;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=1.401;MLEAC=1;MLEAF=0.5;MQ=45.96;MQRankSum=1.34;QD=0.96;ReadPosRankSum=1.03;SOR=0.337;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120810328G>T||||||	GT:AD:DP:GQ:PL	0/1:71,12:83:99:108,0,2024
chr1	120810541	rs1457968190	C	T	72.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.445;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=18.667;MLEAC=1;MLEAF=0.5;MQ=33.16;MQRankSum=-1.067;QD=0.82;ReadPosRankSum=0.881;SOR=4.071;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120810541C>T||||||	GT:AD:DP:GQ:PL	0/1:78,11:89:99:101,0,1985
chr1	120814790	rs1406808077	C	T	911.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.34;QD=30.39;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120814790C>T||||||	GT:AD:DP:GQ:PL	1/1:0,30:30:90:940,90,0
chr1	120816244	rs1203821036	A	G	226.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.939;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.497;MLEAC=1;MLEAF=0.5;MQ=27.49;MQRankSum=-0.117;QD=14.17;ReadPosRankSum=1.24;SOR=1.001;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120816244A>G||||||	GT:AD:DP:GQ:PL	0/1:5,11:16:92:255,0,92
chr1	120816562	rs1344978365	C	A	20.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.644;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=22.49;MQRankSum=-1.332;QD=0.83;ReadPosRankSum=-0.209;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120816562C>A||||||	GT:AD:DP:GQ:PL	0/1:20,5:25:49:49,0,449
chr1	120816625	rs782008931	G	C	32.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.041;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.693;MLEAC=1;MLEAF=0.5;MQ=27.31;MQRankSum=-0.848;QD=1.42;ReadPosRankSum=0.503;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202128472;dbSNPBuildID=144;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120816625G>C||||||	GT:AD:DP:GQ:PL	0/1:18,5:23:61:61,0,534
chr1	120816714	rs1239734533;rs200232291	G	C	706.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.42;QD=26.29;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120816714G>C||||||;ESP6500_AA=G;ESP6500_AA_AC=229,2325;ESP6500_AA_GTC=74,81,1122;ESP6500_CDS_SIZES=NM_015383.1:2766;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=20;ESP6500_EA_AC=1375,6001;ESP6500_EA_GTC=331,713,2644;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015383.1:missense;ESP6500_GL=NBPF14;ESP6500_GRCh38_POSITION=1:120816714;ESP6500_GS=112;ESP6500_GTC=405,794,3766;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015383.1:c.452C>G;ESP6500_HGVS_PROTEIN_VAR=NM_015383.1:p.(S151C);ESP6500_MAF=18.6415,8.9663,16.1531;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=1604,8326	GT:AD:DP:GQ:PL	1/1:0,18:18:54:735,54,0
chr1	120822191	rs1418103463	A	G	619.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.62;QD=30.99;SOR=3.716;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120822191A>G||||||	GT:AD:DP:GQ:PL	1/1:0,20:20:60:648,60,0
chr1	120822349	rs1469351952	C	G	147.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24.81;QD=24.64;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120822349C>G||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:18:176,18,0
chr1	120823517	rs1302607451	C	G	864.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.77;QD=34.12;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120823517C>G||||||	GT:AD:DP:GQ:PL	1/1:0,24:24:72:893,72,0
chr1	120823752	rs1491152241	CTG	C	193.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.94;QD=33.98;SOR=0.941;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120823753_120823754delTG||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:21:161,21,0
chr1	120823895	rs587669573	A	G	197.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.16;QD=32.97;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120823895A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4991;p3_1000G_AF=0.99660543;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=42321;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.9911;p3_1000G_GRCH37_POS=145311707;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_NEW_ALLELE;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:226,18,0
chr1	120824137	rs782498971	G	A	82.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=13.222;MLEAC=1;MLEAF=0.5;MQ=29.63;MQRankSum=1.31;QD=9.2;ReadPosRankSum=-0.508;SOR=1.393;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120824137G>A||||||	GT:AD:DP:GQ:PL	0/1:5,4:9:99:111,0,113
chr1	120829841	rs1287048178	T	G	824.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.8;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=1.107;MLEAC=1;MLEAF=0.5;MQ=36.86;MQRankSum=-0.887;QD=12.13;ReadPosRankSum=-0.56;SOR=0.948;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120829841T>G||||||	GT:AD:DP:GQ:PL	0/1:39,29:68:99:853,0,1076
chr1	120830338	rs1189814756	T	C	91.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=30.29;MQRankSum=-0.437;QD=8.34;ReadPosRankSum=-0.191;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372850027;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120830338T>C||||||	GT:AD:DP:GQ:PL	0/1:6,5:11:99:120,0,160
chr1	120833459	rs1481209096	A	C	78.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=36.53;MQRankSum=0.385;QD=13.13;ReadPosRankSum=0;SOR=2.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200957807;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120833459A>C||||||	GT:AD:DP:GQ:PL	0/1:3,3:6:89:107,0,89
chr1	120833504	rs1331034502	C	A	98.82	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=35.79;MQRankSum=1.28;QD=19.76;ReadPosRankSum=1.28;SOR=1.447;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120833504C>A||||||	GT:AD:DP:GQ:PL	0/1:1,4:5:19:127,0,19
chr1	120840143	rs1268573515	G	GTC	79.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.48;QD=26.42;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=GTC|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120840143_120840144insTC||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:116,9,0
chr1	120840701	rs61810197	T	G	1039.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.36;QD=29.52;SOR=2.91;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=129;ANN=G|intergenic_region|MODIFIER|NBPF8-RNVU1-19|NBPF8-RNVU1-19|intergenic_region|NBPF8-RNVU1-19|||n.120840701T>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=4395;p3_1000G_AF=0.877596;p3_1000G_AFR_AF=0.9939;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=25747;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8688;p3_1000G_GRCH37_POS=148004440;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.7434000000000001;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1068,87,0
chr1	120889742	rs2814238	A	C	399.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.63;QD=28.09;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs138613319;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|PPIAL4A|PPIAL4A|transcript|NM_001143883.2|protein_coding||c.-79A>C|||||4|,C|intergenic_region|MODIFIER|RNVU1-19-PPIAL4A|RNVU1-19-PPIAL4A|intergenic_region|RNVU1-19-PPIAL4A|||n.120889742A>C||||||	GT:AD:DP:GQ:PL	1/1:0,11:11:33:428,33,0
chr1	120889787	rs1251658217	C	T	509.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.07;QD=28.32;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|PPIAL4A|PPIAL4A|transcript|NM_001143883.2|protein_coding|1/1|c.-34C>T||||||,T|5_prime_UTR_variant|MODIFIER|PPIAL4A|PPIAL4A|transcript|NM_001143883.2|protein_coding|1/1|c.-34C>T|||||34|	GT:AD:DP:GQ:PL	1/1:0,18:18:54:538,54,0
chr1	120913869	rs1425645954	T	C	30.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=15.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|LINC00623|LINC00623|transcript|NR_024510.2|pseudogene|1/1|n.234+419T>C||||||,C|intron_variant|MODIFIER|LINC00623|LINC00623|transcript|NR_024584.2|pseudogene|2/3|n.185+419T>C||||||,C|intron_variant|MODIFIER|LINC00623|LINC00623|transcript|NR_024511.2|pseudogene|1/2|n.234+419T>C||||||,C|intron_variant|MODIFIER|LINC00623|LINC00623|transcript|NR_109754.2|pseudogene|1/2|n.234+419T>C||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:58,6,0
chr1	120913887	rs1218582348	T	C	70.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=28.57;QD=23.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|LINC00623|LINC00623|transcript|NR_024510.2|pseudogene|1/1|n.234+437T>C||||||,C|intron_variant|MODIFIER|LINC00623|LINC00623|transcript|NR_024584.2|pseudogene|2/3|n.185+437T>C||||||,C|intron_variant|MODIFIER|LINC00623|LINC00623|transcript|NR_024511.2|pseudogene|1/2|n.234+437T>C||||||,C|intron_variant|MODIFIER|LINC00623|LINC00623|transcript|NR_109754.2|pseudogene|1/2|n.234+437T>C||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:98,9,0
chr1	121088716	rs201922049	A	G	103.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.05;QD=25.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=137;ANN=G|missense_variant|MODERATE|FCGR1B|FCGR1B|transcript|NM_001017986.3|protein_coding|3/5|c.115A>G|p.Ile39Val|165/1902|115/843|39/280||,G|missense_variant|MODERATE|FCGR1B|FCGR1B|transcript|NM_001244910.1|protein_coding|3/5|c.115A>G|p.Ile39Val|165/1581|115/675|39/224||,G|intron_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NM_001004340.3|protein_coding|1/2|c.31+1291A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NR_045213.1|pseudogene|3/6|n.165A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4296;p3_1000G_AF=0.857827;p3_1000G_AFR_AF=0.9932;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=18366;p3_1000G_EAS_AF=0.8432999999999999;p3_1000G_EUR_AF=0.8698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=120934573;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6789000000000001;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:131,12,0
chr1	121096208	rs76856338	G	A	3825.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.591;ClippingRankSum=0;DP=180;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.94;MQRankSum=6.75;QD=21.25;ReadPosRankSum=1.8;SOR=0.727;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=A|3_prime_UTR_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NM_001017986.3|protein_coding|5/5|c.*56G>A|||||56|,A|3_prime_UTR_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NM_001004340.3|protein_coding|3/3|c.*56G>A|||||56|,A|downstream_gene_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NM_001244910.1|protein_coding||c.*1422G>A|||||566|,A|non_coding_transcript_exon_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NR_045213.1|pseudogene|6/6|n.1234G>A||||||	GT:AD:DP:GQ:PL	0/1:30,150:180:99:3854,0,342
chr1	121096324	rs77468494	G	T	229.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.772;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=5.234;MLEAC=1;MLEAF=0.5;MQ=40.34;MQRankSum=-3.097;QD=1.9;ReadPosRankSum=-1.051;SOR=0.288;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=T|3_prime_UTR_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NM_001017986.3|protein_coding|5/5|c.*172G>T|||||172|,T|3_prime_UTR_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NM_001004340.3|protein_coding|3/3|c.*172G>T|||||172|,T|downstream_gene_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NM_001244910.1|protein_coding||c.*1538G>T|||||682|,T|non_coding_transcript_exon_variant|MODIFIER|FCGR1B|FCGR1B|transcript|NR_045213.1|pseudogene|6/6|n.1350G>T||||||	GT:AD:DP:GQ:PL	0/1:99,22:121:99:258,0,2850
chr1	121116927	rs182963377	T	C	2675.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.41;QD=27.61;SOR=1.673;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=135;ANN=C|non_coding_transcript_exon_variant|MODIFIER|HIST2H2BA|HIST2H2BA|transcript|NR_027337.1|pseudogene|1/2|n.325A>G||||||	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2704,226,0
chr1	121118165	rs585387	G	T	1951.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.12;QD=32.53;SOR=1.812;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=83;ANN=T|upstream_gene_variant|MODIFIER|HIST2H2BA|HIST2H2BA|transcript|NR_027337.1|pseudogene||n.-914C>A|||||914|,T|intergenic_region|MODIFIER|HIST2H2BA-FAM72B|HIST2H2BA-FAM72B|intergenic_region|HIST2H2BA-FAM72B|||n.121118165G>T||||||	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1980,180,0
chr1	121118455	rs61804021	A	G	2338.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.11;QD=33.41;SOR=1.163;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=129;ANN=G|upstream_gene_variant|MODIFIER|HIST2H2BA|HIST2H2BA|transcript|NR_027337.1|pseudogene||n.-1204T>C|||||1204|,G|intergenic_region|MODIFIER|HIST2H2BA-FAM72B|HIST2H2BA-FAM72B|intergenic_region|HIST2H2BA-FAM72B|||n.121118455A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=4682;p3_1000G_AF=0.9349042;p3_1000G_AFR_AF=0.9955;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=14293;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.8926000000000001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=120904830;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.8497;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2367,210,0
chr1	121374817	rs1286355714	C	T	1135.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.13;QD=33.08;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61806689;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|SRGAP2C|SRGAP2C|transcript|NM_001329984.1|protein_coding|6/9|c.703-9C>T||||||,T|intron_variant|MODIFIER|SRGAP2-AS1|SRGAP2-AS1|transcript|NR_104189.1|pseudogene|2/3|n.330-11929G>A||||||,T|intron_variant|MODIFIER|SRGAP2C|SRGAP2C|transcript|NM_001271872.2|protein_coding|6/9|c.703-9C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:121374817_C_T:1164,78,0
chr1	121374827	rs1311664345	A	G	1264.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.67;QD=28.86;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61806690;dbSNPBuildID=151;ANN=G|missense_variant&splice_region_variant|MODERATE|SRGAP2C|SRGAP2C|transcript|NM_001329984.1|protein_coding|7/10|c.704A>G|p.His235Arg|1404/7099|704/1380|235/459||,G|missense_variant&splice_region_variant|MODERATE|SRGAP2C|SRGAP2C|transcript|NM_001271872.2|protein_coding|7/10|c.704A>G|p.His235Arg|1404/7096|704/1377|235/458||,G|intron_variant|MODIFIER|SRGAP2-AS1|SRGAP2-AS1|transcript|NR_104189.1|pseudogene|2/3|n.330-11939T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:90:1|1:121374817_C_T:1293,90,0
chr1	121556537	rs150595628	A	T	496.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.267;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.283;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.324;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150595628;dbSNPBuildID=134;ANN=T|non_coding_transcript_exon_variant|MODIFIER|EMBP1|EMBP1|transcript|NR_003955.1|pseudogene|2/8|n.376A>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17645;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121298335;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,21:38:99:525,0,376
chr1	143449352	rs2659231	C	T	146.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24.34;QD=24.47;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=100;ANN=T|intergenic_region|MODIFIER|LOC645166-RNVU1-17|LOC645166-RNVU1-17|intergenic_region|LOC645166-RNVU1-17|||n.143449352C>T||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:18:175,18,0
chr1	143796246	rs61789500	T	C	422.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.56;QD=32.52;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|LOC388692|LOC388692|transcript|NR_111933.1|pseudogene|1/1|n.1768-323T>C||||||,C|intron_variant|MODIFIER|FAM231D|FAM231D|transcript|NR_111934.1|pseudogene|1/1|n.1447-323T>C||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:39:451,39,0
chr1	143882411	rs61805133	T	C	249.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.45;QD=31.22;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|FCGR1CP|FCGR1CP|transcript|NR_027484.2|pseudogene|5/5|n.896+15T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2941;p3_1000G_AF=0.58726;p3_1000G_AFR_AF=0.40700000000000003;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=16300;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.5467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=149376972;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:278,24,0
chr1	143883272	rs1191784228	CTCTTTG	C	130.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=26.45;MQRankSum=-0.478;QD=6.88;ReadPosRankSum=0.264;SOR=0.73;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|FCGR1CP|FCGR1CP|transcript|NR_027484.2|pseudogene|5/5|n.897-17_897-12delGTCTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:14,5:19:99:168,0,1022
chr1	143883704	rs61805134	G	A	1425.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.15;QD=31.68;SOR=3.209;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=129;ANN=A|non_coding_transcript_exon_variant|MODIFIER|FCGR1CP|FCGR1CP|transcript|NR_027484.2|pseudogene|6/6|n.1306G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2937;p3_1000G_AF=0.586462;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=7067;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.5457000000000001;p3_1000G_GRCH37_POS=149378274;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1454,135,0
chr1	143904542	rs879974211	T	C	285.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.01;ClippingRankSum=0;DP=172;ExcessHet=3.0103;FS=13.888;MLEAC=1;MLEAF=0.5;MQ=54.67;MQRankSum=-10.73;QD=1.66;ReadPosRankSum=1.52;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNPBuildID=149;ANN=C|intergenic_region|MODIFIER|FCGR1CP-FAM72C|FCGR1CP-FAM72C|intergenic_region|FCGR1CP-FAM72C|||n.143904542T>C||||||	GT:AD:DP:GQ:PL	0/1:139,33:172:99:314,0,4097
chr1	144426562	rs202115126	T	A	114.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.73;QD=28.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_001170755.2|protein_coding|17/21|c.1266-112A>T||||||,A|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_173638.4|protein_coding|14/18|c.1266-112A>T||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:142,12,0
chr1	144428716	rs1324482211	A	T	204.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.653;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.552;MLEAC=1;MLEAF=0.5;MQ=28.34;MQRankSum=-3.288;QD=4.45;ReadPosRankSum=-0.704;SOR=1.234;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|sequence_feature|LOW|NBPF15|NBPF15|domain:NBPF_3|NM_001170755.2|protein_coding|14/21|c.989-59T>A||||||,T|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_001170755.2|protein_coding|14/21|c.989-59T>A||||||,T|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_173638.4|protein_coding|11/18|c.989-59T>A||||||	GT:AD:DP:GQ:PL	0/1:32,14:46:99:233,0,861
chr1	144428737	rs1168767504	A	G	82.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.88;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=7.969;MLEAC=1;MLEAF=0.5;MQ=28.48;MQRankSum=-2.492;QD=2.3;ReadPosRankSum=0.888;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|sequence_feature|LOW|NBPF15|NBPF15|domain:NBPF_3|NM_001170755.2|protein_coding|14/21|c.989-80T>C||||||,G|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_001170755.2|protein_coding|14/21|c.989-80T>C||||||,G|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_173638.4|protein_coding|11/18|c.989-80T>C||||||	GT:AD:DP:GQ:PL	0/1:28,8:36:99:111,0,702
chr1	144429584	rs1394941783	A	G	277.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.55;QD=30.86;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|sequence_feature|LOW|NBPF15|NBPF15|domain:NBPF_3|NM_001170755.2|protein_coding|14/21|c.988+116T>C||||||,G|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_001170755.2|protein_coding|14/21|c.988+116T>C||||||,G|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_173638.4|protein_coding|11/18|c.988+116T>C||||||	GT:AD:DP:GQ:PL	1/1:0,9:9:27:306,27,0
chr1	144435669	rs1337929036	T	A	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.69;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=19.657;MLEAC=1;MLEAF=0.5;MQ=42.19;MQRankSum=-5.071;QD=2.68;ReadPosRankSum=0.584;SOR=2.96;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_001170755.2|protein_coding|11/21|c.566+112A>T||||||,A|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_173638.4|protein_coding|8/18|c.566+112A>T||||||	GT:AD:DP:GQ:PL	0/1:93,23:116:99:339,0,2389
chr1	144435735	rs4950571	C	T	360.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.76;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=9.516;MLEAC=1;MLEAF=0.5;MQ=37.99;MQRankSum=-4.717;QD=3.34;ReadPosRankSum=1.14;SOR=1.265;SNP;HET;VARTYPE=SNP;dbSNPBuildID=117;ANN=T|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_001170755.2|protein_coding|11/21|c.566+46G>A||||||,T|intron_variant|MODIFIER|NBPF15|NBPF15|transcript|NM_173638.4|protein_coding|8/18|c.566+46G>A||||||	GT:AD:DP:GQ:PL	0/1:83,25:108:99:389,0,2204
chr1	144892434	rs1255403250	G	A	87.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=21.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|SRGAP2-AS1|SRGAP2-AS1.2|transcript|NR_104189.1.2|pseudogene|2/3|n.330-24736G>A||||||,A|intron_variant|MODIFIER|SRGAP2B|SRGAP2B|transcript|NM_001271870.2|protein_coding|8/8|c.1159-53C>T||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:115,12,0
chr1	144914535	rs1454635496	G	A	91.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.992;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=9.7;MLEAC=1;MLEAF=0.5;MQ=24;MQRankSum=0;QD=11.47;ReadPosRankSum=0;SOR=3.596;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|SRGAP2-AS1|SRGAP2-AS1.2|transcript|NR_104189.1.2|pseudogene|2/3|n.330-2635G>A||||||,A|intron_variant|MODIFIER|SRGAP2B|SRGAP2B|transcript|NM_001271870.2|protein_coding|4/8|c.486+157C>T||||||	GT:AD:DP:GQ:PL	0/1:3,5:8:62:120,0,62
chr1	145215413	rs1274614780	C	T	71.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27.77;MQRankSum=-1.036;QD=14.35;ReadPosRankSum=-0.253;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111954.1|pseudogene|1/3|n.433+226G>A||||||,T|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111955.1|pseudogene|1/1|n.433+226G>A||||||,T|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111956.1|pseudogene|1/2|n.433+226G>A||||||,T|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111957.1|pseudogene|1/3|n.433+226G>A||||||,T|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111958.1|pseudogene|1/2|n.433+226G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,3:5:90:0|1:145215413_C_T:100,0,90
chr1	145215422	rs1214149926	G	A	52.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.03;MQRankSum=-0.967;QD=17.59;ReadPosRankSum=-0.967;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111954.1|pseudogene|1/3|n.433+217C>T||||||,A|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111955.1|pseudogene|1/1|n.433+217C>T||||||,A|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111956.1|pseudogene|1/2|n.433+217C>T||||||,A|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111957.1|pseudogene|1/3|n.433+217C>T||||||,A|intron_variant|MODIFIER|LOC103091866|LOC103091866|transcript|NR_111958.1|pseudogene|1/2|n.433+217C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,2:3:68:0|1:145215413_C_T:81,0,68
chr1	145241780	rs372485	G	A	889.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.008;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=1.775;MLEAC=1;MLEAF=0.5;MQ=34.25;MQRankSum=-2.545;QD=9.78;ReadPosRankSum=0.123;SOR=0.938;SNP;HET;VARTYPE=SNP;dbSNPBuildID=85;ANN=A|synonymous_variant|LOW|PPIAL4E|PPIAL4E.3|transcript|NM_001144032.2.3|protein_coding|1/1|c.345C>T|p.Cys115Cys|420/785|345/495|115/164||,A|synonymous_variant|LOW|PPIAL4D|PPIAL4D.3|transcript|NM_001164261.1.3|protein_coding|1/1|c.345C>T|p.Cys115Cys|420/785|345/495|115/164||,A|synonymous_variant|LOW|PPIAL4F|PPIAL4F.3|transcript|NM_001164262.2.3|protein_coding|1/1|c.345C>T|p.Cys115Cys|420/785|345/495|115/164||	GT:AD:DP:GQ:PL	0/1:49,42:91:99:918,0,1163
chr1	145291474	rs587739897	G	A	419.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.368;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.83;MQRankSum=-0.255;QD=9.13;ReadPosRankSum=0.719;SOR=0.768;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|3_prime_UTR_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|138/138|c.*52C>T|||||52|;p3_1000G_AA=.|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=27025;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=148251823;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,18:46:99:448,0,890
chr1	145403198	rs78560929	A	C	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.94;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=12.934;MLEAC=1;MLEAF=0.5;MQ=54;MQRankSum=-5.605;QD=0.19;ReadPosRankSum=2.69;SOR=3.302;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|3/137|c.-791+18T>G||||||	GT:AD:DP:GQ:PL	0/1:63,9:72:42:42,0,1709
chr1	145404993	rs1461390352	C	G	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.803;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.16;MQRankSum=-3.779;QD=3.9;ReadPosRankSum=-1.465;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/137|c.-894+105G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,4:22:99:0|1:145404993_C_G:114,0,1323
chr1	145404999	rs1412554438	C	T	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.693;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.29;MQRankSum=-3.373;QD=9.21;ReadPosRankSum=-2.059;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/137|c.-894+99G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,5:23:99:0|1:145404993_C_G:240,0,1314
chr1	145405000	rs1258619098	A	G	253.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.77;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.41;MQRankSum=-3.073;QD=10.57;ReadPosRankSum=-2.503;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/137|c.-894+98T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,6:24:99:0|1:145404993_C_G:282,0,1311
chr1	145405001	rs1479916957	A	G	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.51;MQRankSum=-2.84;QD=11.83;ReadPosRankSum=-2.853;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/137|c.-894+97T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,7:25:99:0|1:145404993_C_G:324,0,1308
chr1	145405003	rs1253628159	A	G	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.55;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.28;MQRankSum=-2.954;QD=13.77;ReadPosRankSum=-3.381;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/137|c.-894+95T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,9:27:99:0|1:145404993_C_G:400,0,1302
chr1	145405011	rs1356379662	A	C	406.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.07;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.68;MQRankSum=-3.323;QD=13.12;ReadPosRankSum=-3.342;SOR=0.336;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/137|c.-894+87T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,12:31:99:0|1:145404993_C_G:435,0,1337
chr1	145405167	rs1277995182	C	T	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.79;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=6.136;MLEAC=1;MLEAF=0.5;MQ=52.67;MQRankSum=-5.172;QD=3.83;ReadPosRankSum=-0.594;SOR=1.396;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|5_prime_UTR_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/138|c.-963G>A|||||11438|	GT:AD:DP:GQ:PL	0/1:73,24:97:99:400,0,1861
chr1	145405180	rs868978406	G	C	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.087;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=3.425;MLEAC=1;MLEAF=0.5;MQ=51.8;MQRankSum=-5.105;QD=3.56;ReadPosRankSum=-2.39;SOR=1.187;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=C|5_prime_UTR_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/138|c.-976C>G|||||11451|	GT:AD:DP:GQ:PL	0/1:72,21:93:99:359,0,1985
chr1	145405191	rs1435863421	A	G	488.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=7.105;MLEAC=1;MLEAF=0.5;MQ=50.87;MQRankSum=-4.782;QD=5.89;ReadPosRankSum=-4.082;SOR=1.577;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/138|c.-987T>C||||||,G|5_prime_UTR_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/138|c.-987T>C|||||11462|	GT:AD:DP:GQ:PGT:PID:PL	0/1:64,19:83:99:0|1:145405191_A_G:517,0,3378
chr1	145405199	rs1373803405	C	T	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.22;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=4.588;MLEAC=1;MLEAF=0.5;MQ=50.97;MQRankSum=-4.328;QD=4.65;ReadPosRankSum=-3.231;SOR=1.615;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|5_prime_UTR_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/138|c.-995G>A|||||11470|	GT:AD:DP:GQ:PGT:PID:PL	0/1:62,13:75:99:0|1:145405191_A_G:377,0,3372
chr1	145405210	rs1193497866	G	A	95.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=16.631;MLEAC=1;MLEAF=0.5;MQ=50.06;MQRankSum=-3.424;QD=1.37;ReadPosRankSum=-2.449;SOR=3.92;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/138|c.-1006C>T||||||,A|5_prime_UTR_variant|MODIFIER|NBPF20|NBPF20|transcript|NM_001278267.1|protein_coding|2/138|c.-1006C>T|||||11481|	GT:AD:DP:GQ:PL	0/1:61,9:70:99:124,0,1733
chr1	145454422	rs1453685338	A	C	266.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=29.6;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF20-NBPF25P|NBPF20-NBPF25P|intergenic_region|NBPF20-NBPF25P|||n.145454422A>C||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:295,21,0
chr1	145515965	rs1456206712	G	A	143.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.96;QD=28.78;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF20-NBPF25P|NBPF20-NBPF25P|intergenic_region|NBPF20-NBPF25P|||n.145515965G>A||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:172,15,0
chr1	145518305	.	A	G	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.48;MQRankSum=-1.242;QD=12.53;ReadPosRankSum=-1.05;SOR=1.609;SNP;HET;VARTYPE=SNP;ANN=G|intergenic_region|MODIFIER|NBPF20-NBPF25P|NBPF20-NBPF25P|intergenic_region|NBPF20-NBPF25P|||n.145518305A>G||||||	GT:AD:DP:GQ:PL	0/1:5,4:9:99:141,0,167
chr1	145518602	rs1411323576	G	T	228.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.22;QD=25.42;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|NBPF20-NBPF25P|NBPF20-NBPF25P|intergenic_region|NBPF20-NBPF25P|||n.145518602G>T||||||	GT:AD:DP:GQ:PL	1/1:0,9:9:27:257,27,0
chr1	145518644	rs55993459	T	G	23.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=36.48;MQRankSum=-0.842;QD=3.96;ReadPosRankSum=-0.524;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=G|intergenic_region|MODIFIER|NBPF20-NBPF25P|NBPF20-NBPF25P|intergenic_region|NBPF20-NBPF25P|||n.145518644T>G||||||	GT:AD:DP:GQ:PL	0/1:4,2:6:52:52,0,126
chr1	145518676	rs1457905952	G	A	421.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.62;QD=30.21;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF20-NBPF25P|NBPF20-NBPF25P|intergenic_region|NBPF20-NBPF25P|||n.145518676G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:145518676_G_A:450,30,0
chr1	145518680	rs1191686448	T	G	421.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.62;QD=28.83;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF20-NBPF25P|NBPF20-NBPF25P|intergenic_region|NBPF20-NBPF25P|||n.145518680T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:145518676_G_A:450,30,0
chr1	145518970	rs34511562	A	G	270.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=126;ANN=G|intergenic_region|MODIFIER|NBPF20-NBPF25P|NBPF20-NBPF25P|intergenic_region|NBPF20-NBPF25P|||n.145518970A>G||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:299,21,0
chr1	145574212	rs1167280776	C	G	1902.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.89;QD=26.26;SOR=2.97;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|splice_region_variant&intron_variant|LOW|NBPF25P|NBPF25P|transcript|NR_104217.1|pseudogene|18/19|n.2233-4G>C||||||	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1931,153,0
chr1	145574677	rs1421613996	A	C	19.81	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.476;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=36.94;MQRankSum=-1.416;QD=1.04;ReadPosRankSum=0.387;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF25P|NBPF25P|transcript|NR_104217.1|pseudogene|18/19|n.2232+144T>G||||||	GT:AD:DP:GQ:PL	0/1:15,4:19:48:48,0,411
chr1	145574818	rs1476250610	C	T	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.817;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=19.762;MLEAC=1;MLEAF=0.5;MQ=48.75;MQRankSum=-4.298;QD=2.02;ReadPosRankSum=1.1;SOR=4.169;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|splice_region_variant&intron_variant|LOW|NBPF25P|NBPF25P|transcript|NR_104217.1|pseudogene|18/19|n.2232+3G>A||||||	GT:AD:DP:GQ:PL	0/1:27,7:34:97:97,0,762
chr1	145581068	rs1215030478	T	A	350.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.6;QD=31.89;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF25P|NBPF25P|transcript|NR_104217.1|pseudogene|10/19|n.1282-215A>T||||||	GT:AD:DP:GQ:PL	1/1:0,11:11:33:379,33,0
chr1	145586293	rs1205647743	C	G	12.99	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.285;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=5.973;MLEAC=1;MLEAF=0.5;MQ=36.45;MQRankSum=-2.069;QD=0.21;ReadPosRankSum=-0.475;SOR=0.501;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|non_coding_transcript_exon_variant|MODIFIER|NBPF25P|NBPF25P|transcript|NR_104217.1|pseudogene|9/20|n.1027G>C||||||	GT:AD:DP:GQ:PL	0/1:52,9:61:41:41,0,1555
chr1	145588070	rs71186758	A	G	1472.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.41;QD=32.73;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=130;ANN=G|non_coding_transcript_exon_variant|MODIFIER|NBPF25P|NBPF25P|transcript|NR_104217.1|pseudogene|7/20|n.767T>C||||||	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1501,135,0
chr1	145591001	.	G	C	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.294;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=1.669;MLEAC=1;MLEAF=0.5;MQ=53.35;MQRankSum=-4.503;QD=0.13;ReadPosRankSum=-0.581;SOR=1.171;SNP;HET;VARTYPE=SNP;ANN=C|non_coding_transcript_exon_variant|MODIFIER|NBPF25P|NBPF25P|transcript|NR_104217.1|pseudogene|5/20|n.517C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:70,6:76:38:0|1:145590998_G_A:38,0,3524
chr1	145608293	rs34955113	T	C	4185.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.45;QD=32.2;SOR=1.005;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=126;ANN=C|upstream_gene_variant|MODIFIER|NBPF25P|NBPF25P|transcript|NR_104217.1|pseudogene||n.-435A>G|||||435|,C|intron_variant|MODIFIER|GPR89A|GPR89A|transcript|NM_001097612.1|protein_coding|1/13|c.42+118T>C||||||,C|intron_variant|MODIFIER|GPR89A|GPR89A|transcript|NM_001097613.2|protein_coding|1/14|c.-80+118T>C||||||,C|intron_variant|MODIFIER|GPR89A|GPR89A|transcript|NR_036541.1|pseudogene|1/13|n.216+118T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2981;p3_1000G_AF=0.595248;p3_1000G_AFR_AF=0.8457;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=15536;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_POS=145826770;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.4867;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,130:130:99:4214,390,0
chr1	145618506	rs1371986942	G	GA	48.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=16.08;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=GA|intron_variant|MODIFIER|GPR89A|GPR89A|transcript|NM_001097612.1|protein_coding|3/13|c.206+93dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|GPR89A|GPR89A|transcript|NM_001097613.2|protein_coding|4/14|c.131+93dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|GPR89A|GPR89A|transcript|NR_036541.1|pseudogene|3/13|n.380+93dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:85,9,0
chr1	145728501	rs1393262212	CTTTT	C	101.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.75;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|CD160|CD160|transcript|NM_007053.3|protein_coding|3/5|c.73+120_73+123delTTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD160|CD160|transcript|NR_103845.1|pseudogene|2/3|n.220+3614_220+3617delTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr1	145847528	rs10910830	G	C	826.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10910830;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|POLR3C|POLR3C|transcript|NM_001303456.1|protein_coding||c.*5108G>C|||||3127|,C|downstream_gene_variant|MODIFIER|PIAS3|PIAS3|transcript|NM_006099.3|protein_coding||c.*1918C>G|||||994|,C|downstream_gene_variant|MODIFIER|MIR6736|MIR6736|transcript|NR_106794.1|pseudogene||n.*3059C>G|||||3059|,C|downstream_gene_variant|MODIFIER|POLR3C|POLR3C|transcript|NM_006468.7|protein_coding||c.*5108G>C|||||3127|,C|intron_variant|MODIFIER|NUDT17|NUDT17|transcript|NM_001012758.2|protein_coding|5/7|c.595-55G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=807;p3_1000G_AF=0.161142;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=18529;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_POS=145587540;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:855,69,0
chr1	145857483	rs12756687	C	G	1314.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|PIAS3|PIAS3|transcript|NM_006099.3|protein_coding|1/13|c.25-477G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3375;p3_1000G_AF=0.673922;p3_1000G_AFR_AF=0.8896;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=19039;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.4364;p3_1000G_GRCH37_POS=145577585;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6493;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1343,114,0
chr1	145872200	rs10910824	A	G	1565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=0.929;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10910824;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|ANKRD35|ANKRD35|transcript|NM_144698.4|protein_coding|10/14|c.2569T>C|p.Leu857Leu|2677/3363|2569/3006|857/1001||,G|synonymous_variant|LOW|ANKRD35|ANKRD35|transcript|NM_001280799.1|protein_coding|8/12|c.2299T>C|p.Leu767Leu|2407/3093|2299/2736|767/911||;p3_1000G_AA=C|||;p3_1000G_AC=2949;p3_1000G_AF=0.588858;p3_1000G_AFR_AF=0.6059;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=14224;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.4384;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=145562881;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1594,135,0
chr1	145872788	rs11579366	G	C	2082.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.71;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ANKRD35|ANKRD35|transcript|NM_144698.4|protein_coding|10/14|c.1981C>G|p.Gln661Glu|2089/3363|1981/3006|661/1001||,C|missense_variant|MODERATE|ANKRD35|ANKRD35|transcript|NM_001280799.1|protein_coding|8/12|c.1711C>G|p.Gln571Glu|1819/3093|1711/2736|571/911||;p3_1000G_AA=G|||;p3_1000G_AC=3310;p3_1000G_AF=0.6609419999999999;p3_1000G_AFR_AF=0.91;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=16743;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.38570000000000004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=145562293;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.637;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=881,3525;ESP6500_AA_AGE=328.0+/-300.3;ESP6500_AA_GTC=95,691,1417;ESP6500_CDS_SIZES=NM_144698.3:3006;ESP6500_CG=4.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=5393,3207;ESP6500_EA_AGE=626.4+/-397.8;ESP6500_EA_GTC=1679,2035,586;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144698.3:missense;ESP6500_GL=ANKRD35;ESP6500_GRCh38_POSITION=1:145872788;ESP6500_GS=29;ESP6500_GTC=1774,2726,2003;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_144698.3:c.1981G>C;ESP6500_HGVS_PROTEIN_VAR=NM_144698.3:p.(E661Q);ESP6500_MAF=37.2907,19.9955,48.2393;ESP6500_PH=probably-damaging:0.971;ESP6500_TAC=6274,6732	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2111,180,0
chr1	145872994	rs41315701	T	C	1497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=0.735;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=127;ANN=C|missense_variant|MODERATE|ANKRD35|ANKRD35|transcript|NM_144698.4|protein_coding|10/14|c.1775A>G|p.Gln592Arg|1883/3363|1775/3006|592/1001||,C|missense_variant|MODERATE|ANKRD35|ANKRD35|transcript|NM_001280799.1|protein_coding|8/12|c.1505A>G|p.Gln502Arg|1613/3093|1505/2736|502/911||;p3_1000G_AA=G|||;p3_1000G_AC=4389;p3_1000G_AF=0.876398;p3_1000G_AFR_AF=0.9871;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=17919;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.7883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=145562087;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.817;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1526,141,0
chr1	145873487	rs6670984	G	A	2546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=0.934;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6670984;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|ANKRD35|ANKRD35|transcript|NM_144698.4|protein_coding|10/14|c.1282C>T|p.Pro428Ser|1390/3363|1282/3006|428/1001||,A|missense_variant|MODERATE|ANKRD35|ANKRD35|transcript|NM_001280799.1|protein_coding|8/12|c.1012C>T|p.Pro338Ser|1120/3093|1012/2736|338/911||;p3_1000G_AA=C|||;p3_1000G_AC=2828;p3_1000G_AF=0.564696;p3_1000G_AFR_AF=0.5794;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=18882;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.3797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=145561594;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6125;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2575,243,0
chr1	145876488	rs115170004	G	A	1969.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=2.035;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ANKRD35|ANKRD35|transcript|NM_144698.4|protein_coding|6/13|c.453+81C>T||||||,A|intron_variant|MODIFIER|ANKRD35|ANKRD35|transcript|NM_001280799.1|protein_coding|4/11|c.183+81C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4991;p3_1000G_AF=0.99660543;p3_1000G_AFR_AF=0.9992;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=21547;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.993;p3_1000G_GRCH37_POS=145558593;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9949;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1998,198,0
chr1	145879427	rs6424379	A	G	1238.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.41;SOR=1.949;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ANKRD35|ANKRD35|transcript|NM_144698.4|protein_coding|1/13|c.40-39T>C||||||,G|intron_variant|MODIFIER|ANKRD35|ANKRD35|transcript|NM_001280799.1|protein_coding|1/11|c.34-1439T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2972;p3_1000G_AF=0.59345;p3_1000G_AFR_AF=0.6097;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=20539;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=145555653;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.681;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1267,108,0
chr1	145904824	rs74119688	A	G	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.201;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.78;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-1.221;SOR=1.565;SNP;HET;VARTYPE=SNP;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|ITGA10|ITGA10|transcript|NM_003637.4|protein_coding|5/29|c.482-13T>C||||||,G|intron_variant|MODIFIER|ITGA10|ITGA10|transcript|NM_001303040.1|protein_coding|2/26|c.89-13T>C||||||,G|intron_variant|MODIFIER|ITGA10|ITGA10|transcript|NM_001303041.1|protein_coding|1/25|c.53-13T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4340;p3_1000G_AF=0.866613;p3_1000G_AFR_AF=0.9319;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=17170;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=145530254;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.8487;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,11:28:99:277,0,501
chr1	145978340	rs1432340676	C	CTTT	1137.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.27;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=CTTT|intron_variant|MODIFIER|POLR3GL|POLR3GL|transcript|NM_032305.1|protein_coding|7/7|c.571-12_571-10dupTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,22:22:50:1086,50,0
chr1	146066541	rs1334800981	T	G	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40;MQRankSum=0;QD=11.94;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12128680;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|90/90|c.11165A>C|p.Glu3722Ala|11200/11423|11165/11388|3722/3795||,G|missense_variant|MODERATE|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|86/86|c.10658A>C|p.Glu3553Ala|10693/10916|10658/10881|3553/3626||	GT:AD:DP:GQ:PL	0/1:2,2:4:63:76,0,63
chr1	146069569	rs374175846	C	T	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.744;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.324;MLEAC=1;MLEAF=0.5;MQ=52.01;MQRankSum=-3.215;QD=2.23;ReadPosRankSum=-0.795;SOR=1.093;SNP;HET;VARTYPE=SNP;dbSNPBuildID=138;ANN=T|missense_variant|MODERATE|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|86/90|c.10784G>A|p.Arg3595His|10819/11423|10784/11388|3595/3795||,T|missense_variant|MODERATE|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|82/86|c.10277G>A|p.Arg3426His|10312/10916|10277/10881|3426/3626||	GT:AD:DP:GQ:PL	0/1:45,11:56:99:153,0,1207
chr1	146069742	rs1328790905	T	C	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.904;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=44.29;MQRankSum=0;QD=5.24;ReadPosRankSum=0.721;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|85/89|c.10638-27A>G||||||,C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|81/85|c.10131-27A>G||||||	GT:AD:DP:GQ:PL	0/1:13,7:20:99:133,0,352
chr1	146069776	rs1433750812	G	C	56.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.253;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=10.561;MLEAC=1;MLEAF=0.5;MQ=37.49;MQRankSum=-0.349;QD=5.16;ReadPosRankSum=1.13;SOR=1.406;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|85/89|c.10638-61C>G||||||,C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|81/85|c.10131-61C>G||||||	GT:AD:DP:GQ:PL	0/1:7,4:11:85:85,0,243
chr1	146127099	rs4649871	T	G	128.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.503;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.68;MQRankSum=-3.669;QD=4.6;ReadPosRankSum=1.7;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201091947;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|12/89|c.1802-20A>C||||||,G|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|12/85|c.1802-20A>C||||||	GT:AD:DP:GQ:PL	0/1:19,9:28:99:157,0,474
chr1	146135471	rs3926769	T	C	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.99;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=9.764;MLEAC=1;MLEAF=0.5;MQ=49.67;MQRankSum=-4.218;QD=2.57;ReadPosRankSum=0.106;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141935360;dbSNPBuildID=108;ANN=C|missense_variant|MODERATE|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|8/90|c.1142A>G|p.Lys381Arg|1177/11423|1142/11388|381/3795||,C|missense_variant|MODERATE|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|8/86|c.1142A>G|p.Lys381Arg|1177/10916|1142/10881|381/3626||;p3_1000G_AA=.|||;p3_1000G_AC=2571;p3_1000G_AF=0.513379;p3_1000G_AFR_AF=0.5408;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=13159;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.5089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=145302704;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,8:38:99:126,0,791
chr1	146136268	rs6697832	T	C	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.775;MLEAC=1;MLEAF=0.5;MQ=46.21;MQRankSum=-2.755;QD=0.45;ReadPosRankSum=-0.478;SOR=2.338;SNP;HET;VARTYPE=SNP;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|7/89|c.1091+85A>G||||||,C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|7/85|c.1091+85A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,3:31:42:0|1:146136268_T_C:42,0,1455
chr1	146136269	rs1479177574	A	C	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.9;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.775;MLEAC=1;MLEAF=0.5;MQ=46.21;MQRankSum=-2.755;QD=0.45;ReadPosRankSum=-0.478;SOR=2.338;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|7/89|c.1091+84T>G||||||,C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|7/85|c.1091+84T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,3:31:42:0|1:146136268_T_C:42,0,1455
chr1	146136271	rs1215286203	C	T	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.775;MLEAC=1;MLEAF=0.5;MQ=46.21;MQRankSum=-2.755;QD=0.36;ReadPosRankSum=-0.292;SOR=2.338;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|7/89|c.1091+82G>A||||||,T|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|7/85|c.1091+82G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,3:31:39:0|1:146136268_T_C:39,0,1531
chr1	146136295	rs201529026	C	T	44.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.248;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=8.563;MLEAC=1;MLEAF=0.5;MQ=44.83;MQRankSum=-3.478;QD=1.15;ReadPosRankSum=0.108;SOR=2.964;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201529026;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|7/89|c.1091+58G>A||||||,T|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|7/85|c.1091+58G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:34,5:39:73:0|1:146136268_T_C:73,0,1762
chr1	146136322	rs4068074	G	C	679.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.38;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.237;MLEAC=1;MLEAF=0.5;MQ=45.53;MQRankSum=-5.379;QD=13.87;ReadPosRankSum=0.417;SOR=1.414;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814641;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|7/89|c.1091+31C>G||||||,C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|7/85|c.1091+31C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4359;p3_1000G_AF=0.870407;p3_1000G_AFR_AF=0.8714;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=12744;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_POS=145301853;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8712;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,20:49:99:708,0,694
chr1	146136339	rs199836609	T	C	561.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.45;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=3.999;MLEAC=1;MLEAF=0.5;MQ=47.03;MQRankSum=-4.137;QD=8.03;ReadPosRankSum=-0.796;SOR=1.339;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199836609;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|7/89|c.1091+14A>G||||||,C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|7/85|c.1091+14A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:53,17:70:99:0|1:146136339_T_C:590,0,2654
chr1	146136344	rs201470840	T	C	597.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.72;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=5.58;MLEAC=1;MLEAF=0.5;MQ=47.93;MQRankSum=-3.658;QD=8.19;ReadPosRankSum=-0.971;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201470840;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|7/89|c.1091+9A>G||||||,C|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|7/85|c.1091+9A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:54,19:73:99:0|1:146136339_T_C:626,0,2698
chr1	146136524	rs7418145	A	G	708.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.3;MQRankSum=-4.541;QD=9.33;ReadPosRankSum=-0.883;SOR=0.671;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202030598;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|6/89|c.989-69T>C||||||,G|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|6/85|c.989-69T>C||||||	GT:AD:DP:GQ:PL	0/1:44,32:76:99:737,0,1146
chr1	146136571	rs7367302	G	A	280.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.676;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.906;MLEAC=1;MLEAF=0.5;MQ=35.7;MQRankSum=-2.751;QD=6.85;ReadPosRankSum=-0.163;SOR=1.467;SNP;HET;VARTYPE=SNP;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|6/89|c.989-116C>T||||||,A|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|6/85|c.989-116C>T||||||	GT:AD:DP:GQ:PL	0/1:27,14:41:99:309,0,894
chr1	146140007	rs1323219306	C	T	85.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.57;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=13.778;MLEAC=1;MLEAF=0.5;MQ=24.43;MQRankSum=-0.764;QD=4.29;ReadPosRankSum=-1.222;SOR=3.904;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28610541;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|5/90|c.580G>A|p.Ala194Thr|615/11423|580/11388|194/3795||,T|missense_variant|MODERATE|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|5/86|c.580G>A|p.Ala194Thr|615/10916|580/10881|194/3626||	GT:AD:DP:GQ:PL	0/1:14,6:20:99:114,0,311
chr1	146140613	rs1282493364	C	T	91.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.03;QD=22.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001302371.1|protein_coding|3/89|c.494-57G>A||||||,T|intron_variant|MODIFIER|NBPF10|NBPF10|transcript|NM_001039703.5|protein_coding|3/85|c.494-57G>A||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:119,12,0
chr1	146164764	rs1132928	T	C	22.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=24.43;MQRankSum=0.654;QD=0.6;ReadPosRankSum=0.85;SOR=1.005;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17421312;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|NOTCH2NL|NOTCH2NL|transcript|NM_203458.4|protein_coding|3/5|c.285A>G|p.Gln95Gln|653/5324|285/711|95/236||	GT:AD:DP:GQ:PL	0/1:32,6:38:51:51,0,731
chr1	146228815	rs1738644	G	C	110.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.17;QD=22.18;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=89;ANN=C|5_prime_UTR_variant|MODIFIER|NOTCH2NL|NOTCH2NL|transcript|NM_203458.4|protein_coding|1/5|c.-151C>G|||||39478|	GT:AD:DP:GQ:PL	1/1:0,5:5:15:139,15,0
chr1	146578081	rs879956143	A	G	139.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.05;QD=27.98;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=149;ANN=G|intron_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|3/45|n.408-2968A>G||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:168,15,0
chr1	146581169	rs1352829628	A	G	19.81	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.89;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=6.628;MLEAC=1;MLEAF=0.5;MQ=51.44;MQRankSum=-2.044;QD=0.86;ReadPosRankSum=0.898;SOR=2.815;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|non_coding_transcript_exon_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|4/46|n.528A>G||||||	GT:AD:DP:GQ:PL	0/1:20,3:23:48:48,0,582
chr1	146644037	rs1286320916	G	A	122.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.91;QD=24.58;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|10/45|n.1439+363G>A||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:151,15,0
chr1	146648620	rs1385293277	G	T	132.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.1;QD=26.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|11/45|n.1576-12G>T||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:161,15,0
chr1	146650424	rs1196417961	C	T	187.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=26.23;QD=26.83;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|non_coding_transcript_exon_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|13/46|n.1866C>T||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:216,21,0
chr1	146725146	rs1224793776	A	G	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.07;MQRankSum=-1.282;QD=5.36;ReadPosRankSum=-0.253;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|non_coding_transcript_exon_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|18/46|n.2880A>G||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:55:55,0,94
chr1	146725919	rs1174604714	T	C	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.04;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.503;MLEAC=1;MLEAF=0.5;MQ=45.83;MQRankSum=-5.258;QD=7.46;ReadPosRankSum=0.68;SOR=1.553;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|18/45|n.3005+648T>C||||||	GT:AD:DP:GQ:PL	0/1:27,12:39:99:319,0,690
chr1	146738490	rs1268664016	G	A	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.016;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.33;MQRankSum=-3.305;QD=10.16;ReadPosRankSum=-1.893;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|23/45|n.3779+28G>A||||||	GT:AD:DP:GQ:PL	0/1:15,15:30:99:333,0,399
chr1	146738575	rs783766	A	G	157.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.66;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37.91;MQRankSum=-0.577;QD=14.34;ReadPosRankSum=0;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|23/45|n.3779+113A>G||||||	GT:AD:DP:GQ:PL	0/1:3,8:11:79:186,0,79
chr1	146757556	rs879988742	G	T	210.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.259;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.95;MQRankSum=0.077;QD=11.71;ReadPosRankSum=0.52;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=149;ANN=T|intron_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|31/45|n.5110-52G>T||||||	GT:AD:DP:GQ:PL	0/1:9,9:18:99:239,0,248
chr1	146757778	rs1235723230	T	A	880.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.691;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.14;MQRankSum=-2.582;QD=8.63;ReadPosRankSum=-0.024;SOR=0.669;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|non_coding_transcript_exon_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|32/46|n.5280T>A||||||	GT:AD:DP:GQ:PL	0/1:61,41:102:99:909,0,1426
chr1	146764762	rs1422016071	C	T	198.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.82;QD=28.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|33/45|n.5457+2707C>T||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0
chr1	146773688	rs1233631398	G	A	203.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.08;QD=29.11;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|non_coding_transcript_exon_variant|MODIFIER|HYDIN2|HYDIN2|transcript|NR_103556.1|pseudogene|34/46|n.5615G>A||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:232,21,0
chr1	146855249	rs1370893604	C	G	575.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.78;QD=31.99;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|HYDIN2-NBPF12|HYDIN2-NBPF12|intergenic_region|HYDIN2-NBPF12|||n.146855249C>G||||||	GT:AD:DP:GQ:PL	1/1:0,18:18:54:604,54,0
chr1	146881249	rs373572280	C	G	506.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.35;QD=29.81;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs373572280;dbSNPBuildID=138;ANN=G|intergenic_region|MODIFIER|HYDIN2-NBPF12|HYDIN2-NBPF12|intergenic_region|HYDIN2-NBPF12|||n.146881249C>G||||||	GT:AD:DP:GQ:PL	1/1:0,17:17:51:535,51,0
chr1	146882537	rs376457100	A	C	842.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.55;QD=27.81;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=138;ANN=C|intergenic_region|MODIFIER|HYDIN2-NBPF12|HYDIN2-NBPF12|intergenic_region|HYDIN2-NBPF12|||n.146882537A>C||||||	GT:AD:DP:GQ:PL	1/1:0,22:22:66:871,66,0
chr1	146885714	rs587594221	T	C	249.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.97;QD=27.75;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intergenic_region|MODIFIER|HYDIN2-NBPF12|HYDIN2-NBPF12|intergenic_region|HYDIN2-NBPF12|||n.146885714T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4765;p3_1000G_AF=0.9514776;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=11595;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.9911;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=146320949;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:278,27,0
chr1	146960288	rs1357671495	G	A	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.337;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.61;MQRankSum=-0.989;QD=6.03;ReadPosRankSum=-1.248;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373442268;dbSNPBuildID=151;ANN=A|missense_variant|MODERATE|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|7/37|c.145G>A|p.Gly49Ser|1362/7109|145/4374|49/1457||	GT:AD:DP:GQ:PL	0/1:20,9:29:99:203,0,520
chr1	146964213	rs1240333890	A	G	631.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43;QD=30.21;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|9/36|c.494-144A>G||||||	GT:AD:DP:GQ:PL	1/1:0,17:17:51:660,51,0
chr1	146964988	rs375255631	T	A	1643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.84;QD=32.23;SOR=1.314;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs375255631;dbSNPBuildID=138;ANN=A|missense_variant|MODERATE|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|11/37|c.662T>A|p.Ile221Asn|1879/7109|662/4374|221/1457||	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1672,153,0
chr1	146970563	rs1387335491	G	A	1556.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.32;QD=31.77;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|14/36|c.1307-84G>A||||||	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1585,147,0
chr1	146971273	rs587696194	C	T	3430.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=113;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.42;QD=30.36;SOR=0.862;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs367673127;dbSNPBuildID=142;ANN=T|synonymous_variant|LOW|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|16/37|c.1470C>T|p.Asp490Asp|2687/7109|1470/4374|490/1457||	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3459,339,0
chr1	146971509	rs1306775881	A	G	200.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.79;QD=28.69;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|16/36|c.1591+115A>G||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:229,21,0
chr1	146974762	rs587721117	C	A	609.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.81;QD=30.49;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|missense_variant|MODERATE|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|18/37|c.1825C>A|p.Leu609Ile|3042/7109|1825/4374|609/1457||;p3_1000G_AA=.|||;p3_1000G_AC=4246;p3_1000G_AF=0.847843;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=11259;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.6461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=146409969;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:638,60,0
chr1	146977381	rs782789443	G	A	422.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.49;QD=28.18;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|20/36|c.2193-85G>A||||||	GT:AD:DP:GQ:PL	1/1:0,15:15:45:451,45,0
chr1	146983132	rs1175893994	T	G	368.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.87;QD=28.37;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|23/36|c.2614+41T>G||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:39:397,39,0
chr1	146984099	rs781918263	C	T	32.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.08;QD=16.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|23/36|c.2615-35C>T||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0
chr1	146984577	rs1435502002	CTGTG	C	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.66;QD=29.54;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|24/36|c.2667-192_2667-189delGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0
chr1	146984802	rs1391984188	C	T	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.847;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.79;MQRankSum=-3.254;QD=2.02;ReadPosRankSum=0.668;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146535649;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|24/36|c.2667-11C>T||||||	GT:AD:DP:GQ:PL	0/1:28,6:34:97:97,0,839
chr1	146987109	rs1371874989	TC	T	89.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.931;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.98;MQRankSum=-0.807;QD=5.28;ReadPosRankSum=-1.741;SOR=0.193;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|27/36|c.3065-122delC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:12,5:17:99:127,0,377
chr1	146987845	.	A	C	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.68;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.57;MQRankSum=0.346;QD=3.76;ReadPosRankSum=1.96;SOR=0.512;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|28/36|c.3117-109A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,4:22:99:0|1:146987845_A_C:111,0,769
chr1	146987860	.	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.469;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.51;MQRankSum=0.671;QD=3.9;ReadPosRankSum=1.02;SOR=0.368;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|28/36|c.3117-94T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,4:22:99:0|1:146987845_A_C:114,0,736
chr1	146987910	rs3928691	G	C	526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=27.35;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|28/36|c.3117-44G>C||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:39:555,39,0
chr1	146989564	rs61805282	C	T	1163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.289;ClippingRankSum=0;DP=199;ExcessHet=3.0103;FS=44.35;MLEAC=1;MLEAF=0.5;MQ=50.9;MQRankSum=-0.567;QD=5.88;ReadPosRankSum=-3.866;SOR=3.723;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|30/36|c.3399-10C>T||||||	GT:AD:DP:GQ:PL	0/1:149,49:198:99:1192,0,4490
chr1	146989566	rs144299337;rs386626674	C	CT	7719.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=210;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.41;QD=28.47;SOR=2.17;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs144299337;dbSNPBuildID=138,134;ANN=CT|splice_region_variant&intron_variant|LOW|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|30/36|c.3399-5dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,210:210:99:7757,647,0
chr1	146991176	rs200504525	T	G	360.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.14;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.135;MLEAC=1;MLEAF=0.5;MQ=24.81;MQRankSum=2.07;QD=18.99;ReadPosRankSum=0.21;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNPBuildID=137;ANN=G|missense_variant|MODERATE|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|33/37|c.3687T>G|p.Cys1229Trp|4904/7109|3687/4374|1229/1457||	GT:AD:DP:GQ:PL	0/1:4,15:19:58:389,0,58
chr1	146994600	rs71618981	T	G	2033.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.37;QD=29.41;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=130;ANN=G|3_prime_UTR_variant|MODIFIER|NBPF12|NBPF12|transcript|NM_001278141.1|protein_coding|37/37|c.*25T>G|||||25|;p3_1000G_AA=.|||;p3_1000G_AC=4268;p3_1000G_AF=0.852236;p3_1000G_AFR_AF=0.8593;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs587731974;p3_1000G_DP=17794;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.6571;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=146466146;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,54:54:99:1|1:146994592_C_A:2062,162,0
chr1	147019597	rs74481866	C	A	450.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.46;QD=25.04;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=131;ANN=A|non_coding_transcript_exon_variant|MODIFIER|LOC728989|LOC728989|transcript|NR_024442.2|pseudogene|6/6|n.815G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=4403;p3_1000G_AF=0.879193;p3_1000G_AFR_AF=0.8593;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=17172;p3_1000G_EAS_AF=0.9583;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_POS=146491156;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:479,54,0
chr1	147022952	rs11587748	A	G	148.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.54;QD=24.81;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=120;ANN=G|non_coding_transcript_exon_variant|MODIFIER|LOC728989|LOC728989|transcript|NR_024442.2|pseudogene|4/6|n.562T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=4140;p3_1000G_AF=0.826677;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=20872;p3_1000G_EAS_AF=0.9524;p3_1000G_EUR_AF=0.7127;p3_1000G_GRCH37_POS=146494511;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:177,18,0
chr1	147024193	rs6663770	T	C	328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.61;QD=29.89;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=116;ANN=C|non_coding_transcript_exon_variant|MODIFIER|LOC728989|LOC728989|transcript|NR_024442.2|pseudogene|3/6|n.254A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4030;p3_1000G_AF=0.804712;p3_1000G_AFR_AF=0.6452;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=19393;p3_1000G_EAS_AF=0.9524;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=146495752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:357,33,0
chr1	147043016	rs34026136	C	T	384.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.14;QD=32.06;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=126;ANN=T|non_coding_transcript_exon_variant|MODIFIER|LOC728989|LOC728989|transcript|NR_024442.2|pseudogene|1/6|n.24G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=4444;p3_1000G_AF=0.8873800000000001;p3_1000G_AFR_AF=0.9372;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=17301;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.7237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=146514576;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:413,36,0
chr1	147162354	rs1036852	G	A	117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.475;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.559;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1036852;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PRKAB2|PRKAB2|transcript|NM_005399.4|protein_coding|6/7|c.672+86C>T||||||,A|intron_variant|MODIFIER|PRKAB2|PRKAB2|transcript|NR_103870.1|pseudogene|4/5|n.568+86C>T||||||,A|intron_variant|MODIFIER|PRKAB2|PRKAB2|transcript|NR_103871.1|pseudogene|5/6|n.689+86C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3578;p3_1000G_AF=0.714457;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=18203;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=146633933;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:146,0,108
chr1	147171976	rs1348316	A	G	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.866;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-0.262;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1348316;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|PRKAB2|PRKAB2|transcript|NM_005399.4|protein_coding|2/7|c.156+13T>C||||||,G|intron_variant|MODIFIER|PRKAB2|PRKAB2|transcript|NR_103870.1|pseudogene|2/5|n.340+13T>C||||||,G|intron_variant|MODIFIER|PRKAB2|PRKAB2|transcript|NR_103871.1|pseudogene|2/6|n.340+13T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3353;p3_1000G_AF=0.669529;p3_1000G_AFR_AF=0.7489;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=15383;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.4384;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=146643555;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2981,1419;ESP6500_AA_GTC=1020,941,239;ESP6500_CDS_SIZES=NM_005399.3:819;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=45;ESP6500_EA_AC=3392,5206;ESP6500_EA_GTC=641,2110,1548;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005399.3:intron;ESP6500_GL=PRKAB2;ESP6500_GRCh38_POSITION=1:147171976;ESP6500_GTC=1661,3051,1787;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005399.3:c.156+13T>C;ESP6500_MAF=39.451,32.25,49.0306;ESP6500_TAC=6373,6625	GT:AD:DP:GQ:PL	0/1:26,14:40:99:280,0,557
chr1	147242742	rs1890042	C	G	16.86	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.81;ReadPosRankSum=-0.084;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|1/23|c.39C>G|p.Ala13Ala|102/3014|39/2694|13/897||,G|synonymous_variant|LOW|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|1/17|c.39C>G|p.Ala13Ala|102/2402|39/2082|13/693||,G|5_prime_UTR_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|1/22|c.-155C>G|||||9947|,G|5_prime_UTR_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|1/18|c.-275C>G|||||23294|,G|5_prime_UTR_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|1/23|c.-273C>G|||||12227|,G|non_coding_transcript_exon_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|1/21|n.102C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1413;p3_1000G_AF=0.282149;p3_1000G_AFR_AF=0.42969999999999997;p3_1000G_AMR_AF=0.1975;p3_1000G_AN=5008;p3_1000G_DP=10408;p3_1000G_EAS_AF=0.33330000000000004;p3_1000G_EUR_AF=0.16999999999999993;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=146714392;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.20550000000000002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:45:45,0,81
chr1	147256494	rs12119390	A	G	1085.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.96;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=2.265;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.203;SOR=1.167;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12119390;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|4/22|c.463-37A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|3/21|c.163-37A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|1/17|c.-186-3343A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|1/16|c.128-9438A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|4/22|c.124-37A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|4/20|n.526-37A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1019;p3_1000G_AF=0.203474;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=19911;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.2644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=146728149;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=730,3674;ESP6500_AA_AGE=298.7+/-285.4;ESP6500_AA_GTC=67,596,1539;ESP6500_CDS_SIZES=NM_024568.2:2355,NM_004284.4:2694,NM_001256338.1:2082,NM_001256337.1:1851,NM_001256336.1:2394;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=114;ESP6500_EA_AC=2519,6079;ESP6500_EA_AGE=411.7+/-350.6;ESP6500_EA_GTC=357,1805,2137;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024568.2:intron,NM_004284.4:intron,NM_001256338.1:intron,NM_001256337.1:intron,NM_001256336.1:intron;ESP6500_GL=CHD1L;ESP6500_GRCh38_POSITION=1:147256494;ESP6500_GTC=424,2401,3676;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024568.2:c.124-36A>G,NM_004284.4:c.463-36A>G,NM_001256338.1:c.128-9442A>G,NM_001256337.1:c.-9546A>G,NM_001256336.1:c.163-36A>G;ESP6500_MAF=29.2975,16.5758,24.9885;ESP6500_TAC=3249,9753	GT:AD:DP:GQ:PL	0/1:36,36:72:99:1114,0,999
chr1	147267409	rs11239963	T	C	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=2.21;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11239963;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|8/22|c.896-17T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|7/21|c.596-17T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|3/17|c.53-17T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|2/16|c.284-17T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|8/22|c.557-17T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|8/20|n.959-17T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1023;p3_1000G_AF=0.204273;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=16856;p3_1000G_EAS_AF=0.1448;p3_1000G_EUR_AF=0.2644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=146739068;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=686,3720;ESP6500_AA_GTC=64,558,1581;ESP6500_CDS_SIZES=NM_024568.2:2355,NM_004284.4:2694,NM_001256338.1:2082,NM_001256337.1:1851,NM_001256336.1:2394;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=44;ESP6500_EA_AC=2402,6198;ESP6500_EA_GTC=357,1688,2255;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024568.2:intron,NM_004284.4:intron,NM_001256338.1:intron,NM_001256337.1:intron,NM_001256336.1:intron;ESP6500_GL=CHD1L;ESP6500_GRCh38_POSITION=1:147267409;ESP6500_GTC=421,2246,3836;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024568.2:c.557-17T>C,NM_004284.4:c.896-17T>C,NM_001256338.1:c.284-17T>C,NM_001256337.1:c.53-17T>C,NM_001256336.1:c.596-17T>C;ESP6500_MAF=27.9302,15.5697,23.7429;ESP6500_TAC=3088,9918	GT:AD:DP:GQ:PL	0/1:9,13:22:99:398,0,252
chr1	147267618	rs4143738	C	T	361.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.345;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNPBuildID=110;ANN=T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|9/22|c.988+100C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|8/21|c.688+100C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|4/17|c.145+100C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|3/16|c.376+100C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|9/22|c.649+100C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|9/20|n.1051+100C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2152;p3_1000G_AF=0.429712;p3_1000G_AFR_AF=0.43720000000000003;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=17626;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.39859999999999995;p3_1000G_GRCH37_POS=146739277;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.46319999999999995;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,14:27:99:390,0,330
chr1	147268917	rs11576360	A	G	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.652;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.9;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|10/22|c.1085+39A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|9/21|c.785+39A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|5/17|c.242+39A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|4/16|c.473+39A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|10/22|c.746+39A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|10/20|n.1148+39A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1316;p3_1000G_AF=0.26278;p3_1000G_AFR_AF=0.3661;p3_1000G_AMR_AF=0.18879999999999997;p3_1000G_AN=5008;p3_1000G_DP=21660;p3_1000G_EAS_AF=0.33330000000000004;p3_1000G_EUR_AF=0.16200000000000003;p3_1000G_GRCH37_POS=146740576;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.20650000000000002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,13:23:99:306,0,242
chr1	147268975	rs1411694545;rs782102437	C	CT	368.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.34;SOR=1.765;INS;HOM;VARTYPE=INS;dbSNPBuildID=144,151;ANN=CT|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|10/22|c.1085+105dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|9/21|c.785+105dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|5/17|c.242+105dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|4/16|c.473+105dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|10/22|c.746+105dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|10/20|n.1148+105dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,14:14:42:406,42,0
chr1	147275490	rs6680778	C	T	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.073;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=0.759;SOR=0.801;SNP;HET;VARTYPE=SNP;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|13/22|c.1385+22C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|12/21|c.1085+22C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|8/17|c.542+22C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|7/16|c.773+22C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|13/22|c.1046+22C>T||||||,T|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|11/20|n.1263+22C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1417;p3_1000G_AF=0.28294699999999995;p3_1000G_AFR_AF=0.42969999999999997;p3_1000G_AMR_AF=0.19879999999999998;p3_1000G_AN=5008;p3_1000G_DP=19563;p3_1000G_EAS_AF=0.33330000000000004;p3_1000G_EUR_AF=0.17000000000000004;p3_1000G_GRCH37_POS=146747153;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,21:54:99:557,0,958
chr1	147275569	rs6672850	T	C	752.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|13/22|c.1385+101T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|12/21|c.1085+101T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|8/17|c.542+101T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|7/16|c.773+101T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|13/22|c.1046+101T>C||||||,C|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|11/20|n.1263+101T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3324;p3_1000G_AF=0.6637379999999999;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.6628000000000001;p3_1000G_AN=5008;p3_1000G_DP=17970;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_POS=146747232;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:781,66,0
chr1	147284549	rs1231564511	A	AAAAC	367.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=2.093;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=AAAAC|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|16/22|c.1854+58_1854+61dupCAAA||||||INFO_REALIGN_3_PRIME,AAAAC|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|15/21|c.1554+58_1554+61dupCAAA||||||INFO_REALIGN_3_PRIME,AAAAC|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|11/17|c.1011+58_1011+61dupCAAA||||||INFO_REALIGN_3_PRIME,AAAAC|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|10/16|c.1242+58_1242+61dupCAAA||||||INFO_REALIGN_3_PRIME,AAAAC|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|16/22|c.1515+58_1515+61dupCAAA||||||INFO_REALIGN_3_PRIME,AAAAC|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|14/20|n.1732+58_1732+61dupCAAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,9:9:27:405,27,0
chr1	147293770	rs2297752	C	G	273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=8.921;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=1.3;SOR=3.841;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297752;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|21/22|c.2506+48C>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|20/21|c.2206+48C>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|16/17|c.1663+48C>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|15/16|c.1894+48C>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|21/22|c.2167+48C>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|19/20|n.2384+48C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1297;p3_1000G_AF=0.258986;p3_1000G_AFR_AF=0.416;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=23033;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.1223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=146765454;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1630,2776;ESP6500_AA_AGE=492.0+/-362.3;ESP6500_AA_GTC=303,1024,876;ESP6500_CDS_SIZES=NM_024568.2:2355,NM_004284.4:2694,NM_001256338.1:2082,NM_001256337.1:1851,NM_001256336.1:2394;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=804,7796;ESP6500_EA_AGE=184.3+/-232.3;ESP6500_EA_GTC=38,728,3534;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024568.2:intron,NM_004284.4:intron,NM_001256338.1:intron,NM_001256337.1:intron,NM_001256336.1:intron;ESP6500_GL=CHD1L;ESP6500_GRCh38_POSITION=1:147293770;ESP6500_GTC=341,1752,4410;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024568.2:c.2167+48C>G,NM_004284.4:c.2506+48C>G,NM_001256338.1:c.1894+48C>G,NM_001256337.1:c.1663+48C>G,NM_001256336.1:c.2206+48C>G;ESP6500_MAF=9.3488,36.995,18.7144;ESP6500_TAC=2434,10572	GT:AD:DP:GQ:PL	0/1:5,8:13:99:302,0,134
chr1	147295381	rs7516430	A	G	681.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.2;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.42;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=2.02;SOR=0.487;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7516430;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_004284.4|protein_coding|22/22|c.2616-50A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256336.1|protein_coding|21/21|c.2316-50A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256337.1|protein_coding|17/17|c.1773-50A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_001256338.1|protein_coding|16/16|c.2004-50A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NM_024568.2|protein_coding|22/22|c.2277-50A>G||||||,G|intron_variant|MODIFIER|CHD1L|CHD1L|transcript|NR_046070.1|pseudogene|20/20|n.2494-50A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1298;p3_1000G_AF=0.259185;p3_1000G_AFR_AF=0.416;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=21074;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.1223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=146767062;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1631,2773;ESP6500_AA_AGE=495.1+/-363.2;ESP6500_AA_GTC=303,1025,874;ESP6500_CDS_SIZES=NM_024568.2:2355,NM_004284.4:2694,NM_001256338.1:2082,NM_001256337.1:1851,NM_001256336.1:2394;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=79;ESP6500_EA_AC=806,7794;ESP6500_EA_AGE=184.6+/-232.5;ESP6500_EA_GTC=38,730,3532;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024568.2:intron,NM_004284.4:intron,NM_001256338.1:intron,NM_001256337.1:intron,NM_001256336.1:intron;ESP6500_GL=CHD1L;ESP6500_GRCh38_POSITION=1:147295381;ESP6500_GTC=341,1755,4406;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024568.2:c.2277-50A>G,NM_004284.4:c.2616-50A>G,NM_001256338.1:c.2004-50A>G,NM_001256337.1:c.1773-50A>G,NM_001256336.1:c.2316-50A>G;ESP6500_MAF=9.3721,37.0345,18.7404;ESP6500_TAC=2437,10567	GT:AD:DP:GQ:PL	0/1:14,25:39:99:710,0,374
chr1	147611945	rs677977	T	C	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.33;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=1.92;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|BCL9|BCL9|transcript|NM_004326.3|protein_coding|4/9|c.53+56T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3476;p3_1000G_AF=0.694089;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=20411;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.6928000000000001;p3_1000G_GRCH37_POS=147083744;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6043000000000001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,5:17:99:162,0,392
chr1	147614359	rs76207549	A	T	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.577;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.349;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76207549;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|BCL9|BCL9|transcript|NM_004326.3|protein_coding|5/9|c.371-68A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=39;p3_1000G_AF=0.00778754;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18621;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=147086158;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:156,0,205
chr1	147615921	rs3737843	T	A	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.347;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.44;ReadPosRankSum=-1.081;SOR=0.973;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737843;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|BCL9|BCL9|transcript|NM_004326.3|protein_coding|7/9|c.660+19T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1586;p3_1000G_AF=0.316693;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=20044;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.5278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=147087721;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=476,3930;ESP6500_AA_AGE=223.6+/-240.1;ESP6500_AA_GTC=31,414,1758;ESP6500_CDS_SIZES=NM_004326.2:4281;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=57;ESP6500_EA_AC=4341,4259;ESP6500_EA_AGE=579.8+/-390.9;ESP6500_EA_GTC=1123,2095,1082;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004326.2:intron;ESP6500_GL=BCL9;ESP6500_GRCh38_POSITION=1:147615921;ESP6500_GTC=1154,2509,2840;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004326.2:c.660+19T>A;ESP6500_MAF=49.5233,10.8034,37.0368;ESP6500_TAC=4817,8189	GT:AD:DP:GQ:PL	0/1:21,10:31:99:197,0,515
chr1	147624993	rs867270	G	A	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.169;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=2.235;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.269;SOR=1.385;SNP;HET;VARTYPE=SNP;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|BCL9|BCL9|transcript|NM_004326.3|protein_coding|10/10|c.*34G>A|||||34|;p3_1000G_AA=G|||;p3_1000G_AC=810;p3_1000G_AF=0.16174100000000002;p3_1000G_AFR_AF=0.14149999999999996;p3_1000G_AMR_AF=0.11380000000000001;p3_1000G_AN=5008;p3_1000G_DP=16316;p3_1000G_EAS_AF=0.29069999999999996;p3_1000G_EUR_AF=0.11529999999999996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=147096794;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,15:29:99:446,0,436
chr1	147631238	rs6681587	C	T	15.88	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.637;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=-1.981;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNPBuildID=116;ANN=T|intergenic_region|MODIFIER|BCL9-ACP6|BCL9-ACP6|intergenic_region|BCL9-ACP6|||n.147631238C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1678;p3_1000G_AF=0.33506400000000003;p3_1000G_AFR_AF=0.5779000000000001;p3_1000G_AMR_AF=0.19599999999999995;p3_1000G_AN=5008;p3_1000G_DP=17207;p3_1000G_EAS_AF=0.29369999999999996;p3_1000G_EUR_AF=0.23760000000000003;p3_1000G_GRCH37_POS=147103039;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.24850000000000005;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:44:44,0,160
chr1	147652507	rs2153463	T	G	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.495;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.202;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.21;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2153463;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|ACP6|ACP6|transcript|NM_016361.4|protein_coding|7/10|c.823A>C|p.Arg275Arg|1287/1808|823/1287|275/428||,G|synonymous_variant|LOW|ACP6|ACP6|transcript|NM_001323625.1|protein_coding|7/9|c.823A>C|p.Arg275Arg|1318/2518|823/1212|275/403||,G|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136633.1|pseudogene|7/8|n.1331+85A>C||||||,G|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136634.1|pseudogene|8/9|n.1706+85A>C||||||,G|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136635.1|pseudogene|7/9|n.1331+85A>C||||||,G|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136636.1|pseudogene|7/8|n.1651+85A>C||||||;ESP6500_AA=G;ESP6500_AA_AC=3356,1050;ESP6500_AA_AGE=385.4+/-325.7;ESP6500_AA_GTC=1284,788,131;ESP6500_CDS_SIZES=NM_016361.3:1287;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=116;ESP6500_EA_AC=6082,2518;ESP6500_EA_AGE=412.1+/-350.7;ESP6500_EA_GTC=2169,1744,387;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016361.3:coding-synonymous;ESP6500_GL=ACP6;ESP6500_GRCh38_POSITION=1:147652507;ESP6500_GTC=3453,2532,518;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_016361.3:c.823A>C;ESP6500_HGVS_PROTEIN_VAR=NM_016361.3:p.(R275);ESP6500_MAF=29.2791,23.8311,27.4335;ESP6500_TAC=9438,3568	GT:AD:DP:GQ:PL	0/1:23,18:41:99:465,0,656
chr1	147659350	rs6674938	T	C	1020.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=1.953;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.662;SOR=1.008;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6674938;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NM_016361.4|protein_coding|3/9|c.479+46A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NM_001323625.1|protein_coding|3/8|c.479+46A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136633.1|pseudogene|3/8|n.974+46A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136634.1|pseudogene|3/9|n.1294+46A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136635.1|pseudogene|3/9|n.974+46A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136636.1|pseudogene|3/8|n.1294+46A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3512;p3_1000G_AF=0.701278;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=19588;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.7187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=147131465;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3266,1140;ESP6500_AA_AGE=405.1+/-333.4;ESP6500_AA_GTC=1214,838,151;ESP6500_CDS_SIZES=NM_016361.3:1287;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=84;ESP6500_EA_AC=6078,2522;ESP6500_EA_AGE=410.4+/-350.2;ESP6500_EA_GTC=2165,1748,387;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016361.3:intron;ESP6500_GL=ACP6;ESP6500_GRCh38_POSITION=1:147659350;ESP6500_GTC=3379,2586,538;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016361.3:c.479+46A>G;ESP6500_MAF=29.3256,25.8738,28.1562;ESP6500_TAC=9344,3662	GT:AD:DP:GQ:PL	0/1:44,37:81:99:1049,0,1159
chr1	147659595	rs3818888	A	C	1132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=1.11;SOR=0.716;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818888;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NM_016361.4|protein_coding|2/9|c.348+52T>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NM_001323625.1|protein_coding|2/8|c.348+52T>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136633.1|pseudogene|2/8|n.843+52T>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136634.1|pseudogene|2/9|n.1163+52T>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136635.1|pseudogene|2/9|n.843+52T>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136636.1|pseudogene|2/8|n.1163+52T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=666;p3_1000G_AF=0.132987;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=19914;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.1243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=147131710;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=73,1679;ESP6500_AA_GTC=3,67,806;ESP6500_CDS_SIZES=NM_016361.3:1287;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=88;ESP6500_EA_AC=448,3534;ESP6500_EA_GTC=31,386,1574;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016361.3:intron;ESP6500_GL=ACP6;ESP6500_GRCh38_POSITION=1:147659595;ESP6500_GTC=34,453,2380;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_016361.3:c.348+52T>G;ESP6500_MAF=11.2506,4.1667,9.0862;ESP6500_TAC=521,5213	GT:AD:DP:GQ:PL	0/1:37,40:77:99:1161,0,1020
chr1	147659830	rs2275552	T	C	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.101;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275552;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NM_016361.4|protein_coding|1/9|c.220-55A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NM_001323625.1|protein_coding|1/8|c.220-55A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136633.1|pseudogene|1/8|n.715-55A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136634.1|pseudogene|1/9|n.1035-55A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136635.1|pseudogene|1/9|n.715-55A>G||||||,C|intron_variant|MODIFIER|ACP6|ACP6|transcript|NR_136636.1|pseudogene|1/8|n.1035-55A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3507;p3_1000G_AF=0.70028;p3_1000G_AFR_AF=0.7345;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=22117;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.7187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=147131945;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:222,0,138
chr1	147758109	rs1692141	C	T	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.228;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=-0.5;SOR=1.276;SNP;HET;VARTYPE=SNP;dbSNPBuildID=89;ANN=T|3_prime_UTR_variant|MODIFIER|GJA5|GJA5|transcript|NM_005266.6|protein_coding|2/2|c.*53G>A|||||53|,T|3_prime_UTR_variant|MODIFIER|GJA5|GJA5|transcript|NM_181703.3|protein_coding|2/2|c.*53G>A|||||53|;p3_1000G_AA=C|||;p3_1000G_AC=599;p3_1000G_AF=0.11960899999999997;p3_1000G_AFR_AF=0.09830000000000005;p3_1000G_AMR_AF=0.11960000000000004;p3_1000G_AN=5008;p3_1000G_DP=19460;p3_1000G_EAS_AF=0.09819999999999995;p3_1000G_EUR_AF=0.24160000000000004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=147230217;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.04500000000000004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,9:26:99:247,0,518
chr1	147909270	rs587649338;rs199714923;368831	G	GA	431.9	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.284;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-0.858;SOR=1.402;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34123490;dbSNPBuildID=142;ANN=GA|downstream_gene_variant|MODIFIER|GJA8|GJA8|transcript|NM_005267.4|protein_coding||c.*13_*14insA|||||3|,GA|intergenic_region|MODIFIER|GJA8-GPR89B|GJA8-GPR89B|intergenic_region|GJA8-GPR89B|||n.147909270_147909271insA||||||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=19715;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.4384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=147381397;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP,INDEL;CLINVAR_AF_EXAC=0.38042;CLINVAR_ALLELEID=353060;CLINVAR_CLNDISDB=MedGen:C1861828,OMIM:116200|MedGen:CN239280;CLINVAR_CLNDN=Cataract_1|Zonular_Pulverulent_Cataract;CLINVAR_CLNHGVS=NC_000001.11:g.147909271dupA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_GENEINFO=GJA8:2703;CLINVAR_ORIGIN=1;CLINVAR_RS=587649338	GT:AD:DP:GQ:PL	1/1:2,20:22:14:469,14,0
chr1	147909317	rs1532399	C	A	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.753;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.916;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.456;SOR=0.523;SNP;HET;VARTYPE=SNP;dbSNPBuildID=88;ANN=A|downstream_gene_variant|MODIFIER|GJA8|GJA8|transcript|NM_005267.4|protein_coding||c.*60C>A|||||49|,A|intergenic_region|MODIFIER|GJA8-GPR89B|GJA8-GPR89B|intergenic_region|GJA8-GPR89B|||n.147909317C>A||||||	GT:AD:DP:GQ:PL	0/1:9,11:20:99:287,0,233
chr1	147970026	rs1232629179	A	G	241.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.09;QD=34.54;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|GPR89B|GPR89B|transcript|NM_016334.3|protein_coding|10/13|c.909+67A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:147970016_G_T:270,21,0
chr1	147992555	rs1400268289	A	G	1642.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.836;ClippingRankSum=0;DP=140;ExcessHet=3.0103;FS=4.12;MLEAC=1;MLEAF=0.5;MQ=54.54;MQRankSum=-0.651;QD=11.73;ReadPosRankSum=-0.335;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|synonymous_variant|LOW|GPR89B|GPR89B|transcript|NM_016334.3|protein_coding|13/14|c.1149A>G|p.Leu383Leu|1293/2116|1149/1368|383/455||,G|downstream_gene_variant|MODIFIER|PDZK1P1|PDZK1P1|transcript|NR_111936.1|pseudogene||n.*1307T>C|||||1307|	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1671,0,1891
chr1	148093887	rs1487952660	G	A	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.378;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=8.383;MLEAC=1;MLEAF=0.5;MQ=42.58;MQRankSum=1.27;QD=15.67;ReadPosRankSum=-0.57;SOR=0.728;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|RNVU1-7-NBPF11|RNVU1-7-NBPF11|intergenic_region|RNVU1-7-NBPF11|||n.148093887G>A||||||	GT:AD:DP:GQ:PL	0/1:6,10:16:99:279,0,150
chr1	148107606	rs1197937900	C	T	3675.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.611;ClippingRankSum=0;DP=151;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.88;MQRankSum=0.949;QD=24.34;ReadPosRankSum=1.1;SOR=0.676;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|19/23|c.2240+105G>A||||||,T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_001101663.4|protein_coding|17/21|c.2078+105G>A||||||,T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|20/24|n.3165+105G>A||||||,T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|18/22|n.3089+105G>A||||||	GT:AD:DP:GQ:PL	0/1:18,133:151:99:3704,0,208
chr1	148108435	rs61807304	A	C	131.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.33;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.79;MQRankSum=-3.268;QD=5.49;ReadPosRankSum=-0.209;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201864178;dbSNPBuildID=130;ANN=C|sequence_feature|LOW|NBPF11|NBPF11|domain:NBPF_5|NM_001101663.4|protein_coding|16/21|c.2026+47T>G||||||,C|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|18/23|c.2188+47T>G||||||,C|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_001101663.4|protein_coding|16/21|c.2026+47T>G||||||,C|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|19/24|n.3113+47T>G||||||,C|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|17/22|n.3037+47T>G||||||	GT:AD:DP:GQ:PL	0/1:17,7:24:99:160,0,479
chr1	148116351	rs1174466603	T	A	85.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.116;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=8.953;MLEAC=1;MLEAF=0.5;MQ=31.97;MQRankSum=1.19;QD=1.79;ReadPosRankSum=-0.155;SOR=1.203;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|13/23|c.1541+112A>T||||||,A|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_001101663.4|protein_coding|11/21|c.1379+112A>T||||||,A|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|14/24|n.2546+112A>T||||||,A|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|12/22|n.2314+112A>T||||||	GT:AD:DP:GQ:PL	0/1:39,9:48:99:114,0,950
chr1	148116385	rs1401739836	C	G	192.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.32;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=31.94;MLEAC=1;MLEAF=0.5;MQ=30.6;MQRankSum=0.742;QD=4.19;ReadPosRankSum=0.765;SOR=4.799;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|13/23|c.1541+78G>C||||||,G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_001101663.4|protein_coding|11/21|c.1379+78G>C||||||,G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|14/24|n.2546+78G>C||||||,G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|12/22|n.2314+78G>C||||||	GT:AD:DP:GQ:PL	0/1:36,10:46:99:221,0,918
chr1	148117692	rs3881673	C	G	24.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.792;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=26.27;MQRankSum=-1.884;QD=2.75;ReadPosRankSum=-0.751;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|12/24|c.1348G>C|p.Glu450Gln|2205/5467|1348/2760|450/919||,G|missense_variant|MODERATE|NBPF11|NBPF11|transcript|NM_001101663.4|protein_coding|10/22|c.1186G>C|p.Glu396Gln|1511/4773|1186/2598|396/865||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|13/25|n.2353G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|11/23|n.2121G>C||||||	GT:AD:DP:GQ:PL	0/1:6,3:9:53:53,0,164
chr1	148117798	rs1388146524	C	T	33.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=26.56;MQRankSum=-1.006;QD=4.82;ReadPosRankSum=0.566;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|11/23|c.1254-12G>A||||||,T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_001101663.4|protein_coding|9/21|c.1092-12G>A||||||,T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|12/24|n.2259-12G>A||||||,T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|10/22|n.2027-12G>A||||||	GT:AD:DP:GQ:PL	0/1:4,3:7:62:62,0,86
chr1	148122948	.	GGCATGGTTTCCTGGTCCATCAGGCAATGCATTTCTGATGTGGAGGGCCACC	G	291.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.691;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=52.12;MQRankSum=0.199;QD=11.22;ReadPosRankSum=1.24;SOR=0.268;DEL;HET;VARTYPE=DEL;ANN=G|sequence_feature|LOW|NBPF11|NBPF11|domain:NBPF_1|NM_001101663.4|protein_coding|5/21|c.494-198_494-148delGGTGGCCCTCCACATCAGAAATGCATTGCCTGATGGACCAGGAAACCATGC||||||,G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|7/23|c.656-198_656-148delGGTGGCCCTCCACATCAGAAATGCATTGCCTGATGGACCAGGAAACCATGC||||||,G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_001101663.4|protein_coding|5/21|c.494-198_494-148delGGTGGCCCTCCACATCAGAAATGCATTGCCTGATGGACCAGGAAACCATGC||||||,G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|8/24|n.1661-198_1661-148delGGTGGCCCTCCACATCAGAAATGCATTGCCTGATGGACCAGGAAACCATGC||||||,G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|6/22|n.1429-198_1429-148delGGTGGCCCTCCACATCAGAAATGCATTGCCTGATGGACCAGGAAACCATGC||||||	GT:AD:DP:GQ:PL	0/1:17,9:26:99:329,0,4577
chr1	148125000	rs78214734	C	G	174.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.822;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=5.047;MLEAC=1;MLEAF=0.5;MQ=38.35;MQRankSum=-1.164;QD=1.84;ReadPosRankSum=-0.42;SOR=0.498;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=G|missense_variant&splice_region_variant|MODERATE|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|6/24|c.339G>C|p.Lys113Asn|1196/5467|339/2760|113/919||,G|missense_variant&splice_region_variant|MODERATE|NBPF11|NBPF11|transcript|NM_001101663.4|protein_coding|4/22|c.177G>C|p.Lys59Asn|502/4773|177/2598|59/865||,G|splice_region_variant&non_coding_transcript_exon_variant|LOW|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|7/25|n.1344G>C||||||,G|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|5/22|n.1214-933G>C||||||	GT:AD:DP:GQ:PL	0/1:76,19:95:99:203,0,2067
chr1	148146688	rs1300701547	T	C	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.145;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=6.296;MLEAC=1;MLEAF=0.5;MQ=54.53;MQRankSum=-5.048;QD=7.33;ReadPosRankSum=-0.889;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|1/23|c.-386-3002A>G||||||,C|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|1/24|n.472-3002A>G||||||,C|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|1/22|n.442-3002A>G||||||	GT:AD:DP:GQ:PL	0/1:23,13:36:99:292,0,704
chr1	148146824	rs1256332620	A	T	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.55;MQRankSum=-6.634;QD=5.58;ReadPosRankSum=-1.707;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|1/23|c.-386-3138T>A||||||,T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|1/24|n.472-3138T>A||||||,T|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|1/22|n.442-3138T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:36,10:46:99:0|1:148146824_A_T:285,0,2096
chr1	148146834	rs1390998406	C	A	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.461;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.701;MLEAC=1;MLEAF=0.5;MQ=56.95;MQRankSum=-6.502;QD=5.9;ReadPosRankSum=-1.77;SOR=0.317;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NM_183372.5|protein_coding|1/23|c.-386-3148G>T||||||,A|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_046188.3|pseudogene|1/24|n.472-3148G>T||||||,A|intron_variant|MODIFIER|NBPF11|NBPF11|transcript|NR_110864.1|pseudogene|1/22|n.442-3148G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:36,8:44:99:0|1:148146824_A_T:288,0,2069
chr1	148459257	rs1177759301	C	G	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.56;MQRankSum=-1.282;QD=6.55;ReadPosRankSum=-0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|LINC01138|LINC01138|transcript|NR_027468.3|pseudogene|1/4|n.319+345G>C||||||,G|intron_variant|MODIFIER|LINC01138|LINC01138|transcript|NR_104014.2|pseudogene|1/2|n.319+345G>C||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:61:61,0,77
chr1	148459479	rs1346708522	C	T	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.243;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.52;MQRankSum=-2.73;QD=0.57;ReadPosRankSum=1.2;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7512075;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|LINC01138|LINC01138|transcript|NR_027468.3|pseudogene|1/4|n.319+123G>A||||||,T|intron_variant|MODIFIER|LINC01138|LINC01138|transcript|NR_104014.2|pseudogene|1/2|n.319+123G>A||||||	GT:AD:DP:GQ:PL	0/1:15,3:18:38:38,0,451
chr1	148482870	rs1207082377;rs77641628	G	A	213.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.101;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=8.82;MLEAC=1;MLEAF=0.5;MQ=29.83;MQRankSum=0.233;QD=12.57;ReadPosRankSum=-0.425;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77641628;dbSNPBuildID=151;ANN=A|missense_variant|MODERATE|PPIAL4G|PPIAL4G|transcript|NM_001123068.1|protein_coding|1/1|c.383C>T|p.Ala128Val|416/738|383/495|128/164||;ESP6500_AA=G;ESP6500_AA_AC=12,3098;ESP6500_AA_GTC=0,12,1543;ESP6500_CDS_SIZES=NM_001123068.1:495;ESP6500_CG=-1.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=130;ESP6500_EA_AC=196,6914;ESP6500_EA_GTC=0,196,3359;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001123068.1:missense;ESP6500_GL=PPIAL4G;ESP6500_GRCh38_POSITION=1:148482870;ESP6500_GS=64;ESP6500_GTC=0,208,4902;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001123068.1:c.383C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001123068.1:p.(A128V);ESP6500_MAF=2.7567,0.3859,2.0352;ESP6500_PH=benign:0.001;ESP6500_TAC=208,10012	GT:AD:DP:GQ:PL	0/1:8,9:17:99:242,0,216
chr1	148533841	rs1335122890	C	A	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.566;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=58.08;MQRankSum=-1.371;QD=5.15;ReadPosRankSum=-1.37;SOR=1.206;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|65/65|c.8216+20G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,6:18:99:0|1:148533826_C_T:121,0,333
chr1	148557506	rs1219983187	T	C	136.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.65;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=12.454;MLEAC=1;MLEAF=0.5;MQ=36.09;MQRankSum=-0.77;QD=4.56;ReadPosRankSum=0.445;SOR=3.912;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|missense_variant|MODERATE|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|35/66|c.4484A>G|p.Asp1495Gly|4484/10080|4484/8460|1495/2819||	GT:AD:DP:GQ:PL	0/1:24,6:30:99:165,0,501
chr1	148557528	rs1468406115	C	G	160.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.14;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=21.622;MLEAC=1;MLEAF=0.5;MQ=38.3;MQRankSum=-1.885;QD=5.74;ReadPosRankSum=-0.247;SOR=4.165;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant|MODERATE|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|35/66|c.4462G>C|p.Glu1488Gln|4462/10080|4462/8460|1488/2819||	GT:AD:DP:GQ:PL	0/1:21,7:28:99:189,0,424
chr1	148559961	rs1397909621	T	C	1636.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.39;QD=30.33;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|missense_variant|MODERATE|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|32/66|c.4054A>G|p.Ser1352Gly|4054/10080|4054/8460|1352/2819||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,37:37:99:1|1:148559961_T_C:1665,111,0
chr1	148559962	rs1339643523	G	T	1636.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.39;QD=32.7;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|synonymous_variant|LOW|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|32/66|c.4053C>A|p.Leu1351Leu|4053/10080|4053/8460|1351/2819||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,37:37:99:1|1:148559961_T_C:1665,111,0
chr1	148566373	rs1398955576	T	C	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.84;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=48.01;MQRankSum=-2.838;QD=3.4;ReadPosRankSum=0.091;SOR=2.793;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|23/65|c.3036-58A>G||||||	GT:AD:DP:GQ:PL	0/1:9,3:12:69:69,0,260
chr1	148577936	rs1442105602	T	A	101.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=32.34;MQRankSum=-0.852;QD=9.25;ReadPosRankSum=-0.699;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|13/65|c.1853+47A>T||||||	GT:AD:DP:GQ:PL	0/1:6,5:11:99:130,0,181
chr1	148585054	rs1480877906	C	T	190.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.637;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.408;MLEAC=1;MLEAF=0.5;MQ=34.93;MQRankSum=-1.099;QD=4.65;ReadPosRankSum=1.17;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|9/65|c.1379+87G>A||||||	GT:AD:DP:GQ:PL	0/1:30,11:41:99:219,0,793
chr1	148592855	rs1201310375	A	G	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.78;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.06;MQRankSum=-2.441;QD=2.44;ReadPosRankSum=0.184;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|2/65|c.279-89T>C||||||	GT:AD:DP:GQ:PL	0/1:10,3:13:60:60,0,310
chr1	148593515	rs1199977883	G	C	34.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.94;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=2.547;MLEAC=1;MLEAF=0.5;MQ=42.21;MQRankSum=-3.337;QD=1.05;ReadPosRankSum=0.868;SOR=1.467;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|2/65|c.278+83C>G||||||	GT:AD:DP:GQ:PL	0/1:27,6:33:63:63,0,766
chr1	148593582	rs1467441842	T	A	32.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.875;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=2.965;MLEAC=1;MLEAF=0.5;MQ=37.58;MQRankSum=-4.752;QD=0.44;ReadPosRankSum=0.441;SOR=0.301;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|2/65|c.278+16A>T||||||	GT:AD:DP:GQ:PL	0/1:63,12:75:61:61,0,1804
chr1	148593602	rs71231122	G	A	395.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.9;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=12.607;MLEAC=1;MLEAF=0.5;MQ=36.93;MQRankSum=2.02;QD=5.14;ReadPosRankSum=1.46;SOR=2.285;SNP;HET;VARTYPE=SNP;dbSNPBuildID=130;ANN=A|missense_variant|MODERATE|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|2/66|c.274C>T|p.Leu92Phe|274/10080|274/8460|92/2819||	GT:AD:DP:GQ:PL	0/1:59,18:77:99:424,0,1914
chr1	148593618	rs1237384468	C	G	380.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.909;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0.891;MLEAC=1;MLEAF=0.5;MQ=36.14;MQRankSum=-4.959;QD=4.64;ReadPosRankSum=2.66;SOR=0.568;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|synonymous_variant|LOW|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|2/66|c.258G>C|p.Leu86Leu|258/10080|258/8460|86/2819||	GT:AD:DP:GQ:PL	0/1:56,26:82:99:409,0,1667
chr1	148593699	rs1338380901	C	G	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.212;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=6.179;MLEAC=1;MLEAF=0.5;MQ=32.37;MQRankSum=-1.578;QD=0.17;ReadPosRankSum=-2.065;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|missense_variant&splice_region_variant|MODERATE|NBPF14|NBPF14|transcript|NM_015383.2|protein_coding|2/66|c.177G>C|p.Lys59Asn|177/10080|177/8460|59/2819||	GT:AD:DP:GQ:PL	0/1:58,8:66:39:39,0,1631
chr1	148915441	rs7543807	C	T	164.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.065;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.74;MQRankSum=0.161;QD=3.74;ReadPosRankSum=-1.869;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7543807;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|1/43|c.142-13756C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_022359.5|protein_coding|4/6|c.553-13756C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|4/45|c.340-13756C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001195260.1|protein_coding|2/4|c.46-13756C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001195261.1|protein_coding|2/4|c.151-13756C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001002810.3|protein_coding|1/3|c.142-13756C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001002812.2|protein_coding|1/22|c.142-13756C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|1/43|c.142-13756C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,11:44:99:0|1:148915438_A_T:193,0,821
chr1	148972321	rs1628172	C	T	237.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.238;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.66;MQRankSum=-1.131;QD=13.99;ReadPosRankSum=-1.239;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=89;ANN=T|missense_variant|MODERATE|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|15/44|c.2122C>T|p.Arg708Cys|2424/8321|2122/7089|708/2362||,T|missense_variant|MODERATE|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|18/46|c.2320C>T|p.Arg774Cys|2706/8143|2320/6723|774/2240||,T|missense_variant|MODERATE|PDE4DIP|PDE4DIP|transcript|NM_001002812.2|protein_coding|15/23|c.2122C>T|p.Arg708Cys|2424/4835|2122/2910|708/969||,T|missense_variant|MODERATE|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|15/44|c.2122C>T|p.Arg708Cys|2424/8377|2122/7041|708/2346||,T|missense_variant|MODERATE|PDE4DIP|PDE4DIP|transcript|NM_001002811.2|protein_coding|11/19|c.2611C>T|p.Arg871Cys|3268/5679|2611/3399|871/1132||;p3_1000G_AA=G|||;p3_1000G_AC=582;p3_1000G_AF=0.11621400000000004;p3_1000G_AFR_AF=0.07640000000000002;p3_1000G_ALLELE_TRANSFORM;p3_1000G_AMR_AF=0.10660000000000003;p3_1000G_AN=5008;p3_1000G_DP=35333;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.19779999999999998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=144912153;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.1503;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,12:17:85:266,0,85
chr1	149002034	rs1384464073	T	A	119.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.59;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=28.29;MQRankSum=0.736;QD=8.55;ReadPosRankSum=1.66;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202034528;dbSNPBuildID=151;ANN=A|splice_region_variant&intron_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|24/43|c.3573+8T>A||||||,A|splice_region_variant&intron_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|24/43|c.3573+8T>A||||||,A|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|27/45|c.3441+338T>A||||||	GT:AD:DP:GQ:PL	0/1:8,6:14:99:148,0,200
chr1	149002806	rs1197852885	G	T	83.85	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=16.77;ReadPosRankSum=1.28;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71664012;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|24/43|c.3574-44G>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|27/45|c.3442-44G>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|24/43|c.3574-44G>T||||||	GT:AD:DP:GQ:PL	0/1:1,4:5:17:112,0,17
chr1	149003608	rs71664011	A	T	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.609;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=5.034;MLEAC=1;MLEAF=0.5;MQ=40.09;MQRankSum=-1.67;QD=2.98;ReadPosRankSum=1.54;SOR=0.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71664011;dbSNPBuildID=130;ANN=T|splice_region_variant&intron_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|25/43|c.3767-3A>T||||||,T|splice_region_variant&intron_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|28/45|c.3635-3A>T||||||,T|splice_region_variant&intron_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|25/43|c.3767-3A>T||||||	GT:AD:DP:GQ:PL	0/1:72,21:93:99:305,0,1773
chr1	149003779	rs71664010	C	A	31.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.409;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.88;MQRankSum=2.13;QD=0.91;ReadPosRankSum=-0.887;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71664010;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|26/43|c.3886+49C>A||||||,A|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|29/45|c.3754+49C>A||||||,A|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|26/43|c.3886+49C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=593;p3_1000G_AF=0.118411;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=35482;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=144880693;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,5:35:60:60,0,850
chr1	149007176	rs369665167	A	T	144.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.35;QD=28.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|27/43|c.4416-25A>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|30/45|c.4284-25A>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|27/43|c.4416-25A>T||||||;ESP6500_AA=A;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_014644.4:7041,NM_001198834.2:7089,NM_001198832.1:6723;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=54;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014644.4:intron,NM_001198834.2:intron,NM_001198832.1:intron;ESP6500_GL=PDE4DIP;ESP6500_GRCh38_POSITION=1:149007176;ESP6500_GTC=0,1,6502;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_014644.4:c.4416-25T>A,NM_001198834.2:c.4416-25T>A,NM_001198832.1:c.4284-25T>A;ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	1/1:0,5:5:15:173,15,0
chr1	149017809	rs1064044	A	G	33.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.63;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=8.655;MLEAC=1;MLEAF=0.5;MQ=55.09;MQRankSum=-3.993;QD=0.94;ReadPosRankSum=1.57;SOR=3.023;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1064044;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|34/44|c.5580A>G|p.Glu1860Glu|5882/8321|5580/7089|1860/2362||,G|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|36/46|c.5262A>G|p.Glu1754Glu|5648/8143|5262/6723|1754/2240||,G|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|34/44|c.5580A>G|p.Glu1860Glu|5882/8377|5580/7041|1860/2346||	GT:AD:DP:GQ:PL	0/1:31,5:36:62:62,0,870
chr1	149029846	rs1473752397	A	G	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.174;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.58;MQRankSum=-1.271;QD=6.74;ReadPosRankSum=1.25;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3851873;dbSNPBuildID=151;ANN=G|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|42/44|c.6873A>G|p.Arg2291Arg|7175/8321|6873/7089|2291/2362||,G|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|44/46|c.6555A>G|p.Arg2185Arg|6941/8143|6555/6723|2185/2240||,G|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|42/44|c.6873A>G|p.Arg2291Arg|7175/8377|6873/7041|2291/2346||	GT:AD:DP:GQ:PL	0/1:10,6:16:99:136,0,267
chr1	149029906	rs1410126017	G	A	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.41;MQRankSum=0;QD=23.97;ReadPosRankSum=-1.465;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|42/44|c.6933G>A|p.Glu2311Glu|7235/8321|6933/7089|2311/2362||,A|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|44/46|c.6615G>A|p.Glu2205Glu|7001/8143|6615/6723|2205/2240||,A|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|42/44|c.6933G>A|p.Glu2311Glu|7235/8377|6933/7041|2311/2346||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,5:7:66:0|1:149029906_G_A:196,0,66
chr1	149029915	rs833192	C	T	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.8;MQRankSum=-0.712;QD=22.97;ReadPosRankSum=-0.712;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|42/44|c.6942C>T|p.Ile2314Ile|7244/8321|6942/7089|2314/2362||,T|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|44/46|c.6624C>T|p.Ile2208Ile|7010/8143|6624/6723|2208/2240||,T|synonymous_variant|LOW|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|42/44|c.6942C>T|p.Ile2314Ile|7244/8377|6942/7041|2314/2346||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,5:7:69:0|1:149029906_G_A:189,0,69
chr1	149029989	rs1263624438	G	T	135.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.8;QD=33.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|42/43|c.6952+64G>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|44/45|c.6634+64G>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|42/43|c.6952+64G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:149029989_G_T:163,12,0
chr1	149029998	rs868972450	C	A	62.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.35;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|42/43|c.6952+73C>A||||||,A|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|44/45|c.6634+73C>A||||||,A|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|42/43|c.6952+73C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:149029989_G_T:90,6,0
chr1	149030004	rs587694200	C	T	62.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.35;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|42/43|c.6952+79C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|44/45|c.6634+79C>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|42/43|c.6952+79C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:149029989_G_T:90,6,0
chr1	149030092	rs1179854425	G	T	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=50.76;MQRankSum=1.65;QD=12.95;ReadPosRankSum=0;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|42/43|c.6953-140G>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|44/45|c.6635-140G>T||||||,T|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|42/43|c.6953-140G>T||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:54:93,0,54
chr1	149030166	rs1255061428	T	C	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=47.87;MQRankSum=-2.2;QD=3.09;ReadPosRankSum=0.549;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1699757;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|42/43|c.6953-66T>C||||||,C|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|44/45|c.6635-66T>C||||||,C|intron_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|42/43|c.6953-66T>C||||||	GT:AD:DP:GQ:PL	0/1:7,2:9:56:56,0,203
chr1	149032194	rs1446517067	G	A	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.43;MQRankSum=-0.842;QD=7.15;ReadPosRankSum=0.524;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1055317;dbSNPBuildID=151;ANN=A|3_prime_UTR_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|44/44|c.*105G>A|||||105|,A|3_prime_UTR_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|46/46|c.*209G>A|||||209|,A|3_prime_UTR_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|44/44|c.*209G>A|||||209|	GT:AD:DP:GQ:PL	0/1:3,2:5:64:64,0,107
chr1	149032216	rs1445451577	A	C	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.77;MQRankSum=0.674;QD=13.75;ReadPosRankSum=-0.253;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200393198;dbSNPBuildID=151;ANN=C|3_prime_UTR_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198834.3|protein_coding|44/44|c.*127A>C|||||127|,C|3_prime_UTR_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_001198832.2|protein_coding|46/46|c.*231A>C|||||231|,C|3_prime_UTR_variant|MODIFIER|PDE4DIP|PDE4DIP|transcript|NM_014644.5|protein_coding|44/44|c.*231A>C|||||231|	GT:AD:DP:GQ:PL	0/1:2,3:5:63:97,0,63
chr1	149055494	rs1419285023	G	C	236.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.928;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.81;MQRankSum=-1.238;QD=11.27;ReadPosRankSum=-1.131;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201128452;dbSNPBuildID=151;ANN=C|3_prime_UTR_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|25/25|c.*162C>G|||||162|,C|3_prime_UTR_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|21/21|c.*162C>G|||||162|	GT:AD:DP:GQ:PL	0/1:10,11:21:99:265,0,265
chr1	149055583	rs1198139945	C	G	589.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.102;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.79;MLEAC=1;MLEAF=0.5;MQ=37;MQRankSum=-0.098;QD=13.72;ReadPosRankSum=-2.186;SOR=1.552;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|3_prime_UTR_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|25/25|c.*73G>C|||||73|,G|3_prime_UTR_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|21/21|c.*73G>C|||||73|	GT:AD:DP:GQ:PL	0/1:21,22:43:99:618,0,537
chr1	149055595	rs879197794	A	T	1421.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.9;QD=30.91;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=147;ANN=T|3_prime_UTR_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|25/25|c.*61T>A|||||61|,T|3_prime_UTR_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|21/21|c.*61T>A|||||61|	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1450,138,0
chr1	149055884	rs1276567146	C	G	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.294;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.02;MQRankSum=-3.725;QD=0.28;ReadPosRankSum=0.102;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12030770;dbSNPBuildID=151;ANN=G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|25/25|c.3108G>C|p.Leu1036Leu|3183/5034|3108/3336|1036/1111||,G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|21/21|c.2601G>C|p.Leu867Leu|2676/4527|2601/2829|867/942||	GT:AD:DP:GQ:PL	0/1:31,5:36:38:38,0,969
chr1	149055986	rs1406393174	G	C	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.16;MQRankSum=2.29;QD=28.28;ReadPosRankSum=-0.493;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|24/24|c.3093-87C>G||||||,C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|20/20|c.2586-87C>G||||||	GT:AD:DP:GQ:PL	0/1:2,8:10:39:311,0,39
chr1	149058830	rs1253454265	A	G	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.126;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=7.368;MLEAC=1;MLEAF=0.5;MQ=47.1;MQRankSum=0.549;QD=14.88;ReadPosRankSum=0;SOR=2.541;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75671583;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|21/24|c.2758+95T>C||||||,G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|19/20|c.2476+1693T>C||||||	GT:AD:DP:GQ:PL	0/1:3,7:10:54:177,0,54
chr1	149058931	rs1205125243	C	A	24.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=42.84;MQRankSum=-0.812;QD=2.75;ReadPosRankSum=0.812;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|21/25|c.2752G>T|p.Val918Leu|2827/5034|2752/3336|918/1111||,A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|19/20|c.2476+1592G>T||||||	GT:AD:DP:GQ:PL	0/1:7,2:9:53:53,0,187
chr1	149059683	rs77723156	G	C	187.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.75;QD=26.83;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|20/24|c.2585+17C>G||||||,C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|19/20|c.2476+840C>G||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:216,21,0
chr1	149059722	rs77814877	T	C	123.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27.83;QD=24.78;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|20/25|c.2563A>G|p.Asn855Asp|2638/5034|2563/3336|855/1111||,C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|19/20|c.2476+801A>G||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:152,15,0
chr1	149062041	rs1167249901	T	C	135.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.99;QD=27.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|17/24|c.2251+52A>G||||||,C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|17/20|c.2251+52A>G||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:164,15,0
chr1	149062099	rs1227241524	A	T	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.78;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=47.53;MQRankSum=-2.299;QD=6.77;ReadPosRankSum=0.882;SOR=1.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs678781;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|17/25|c.2245T>A|p.Leu749Met|2320/5034|2245/3336|749/1111||,T|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|17/21|c.2245T>A|p.Leu749Met|2320/4527|2245/2829|749/942||	GT:AD:DP:GQ:PL	0/1:9,5:14:99:123,0,197
chr1	149062952	rs1170360772	G	T	307.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.762;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.27;MLEAC=1;MLEAF=0.5;MQ=38.76;MQRankSum=-1.348;QD=9.62;ReadPosRankSum=-1.557;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|15/24|c.2027-39C>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|15/20|c.2027-39C>A||||||	GT:AD:DP:GQ:PL	0/1:18,14:32:99:336,0,488
chr1	149063067	rs1225997698	A	T	12.99	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.93;MQRankSum=-0.37;QD=1.3;ReadPosRankSum=1.28;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|15/24|c.2027-154T>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|15/20|c.2027-154T>A||||||	GT:AD:DP:GQ:PL	0/1:8,2:10:41:41,0,215
chr1	149063750	rs1422726282	C	A	118.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.16;QD=29.51;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|15/25|c.1909G>T|p.Asp637Tyr|1984/5034|1909/3336|637/1111||,A|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|15/21|c.1909G>T|p.Asp637Tyr|1984/4527|1909/2829|637/942||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr1	149063796	rs1324516211	C	T	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.164;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.97;MQRankSum=-0.4;QD=1.11;ReadPosRankSum=-0.524;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|15/25|c.1863G>A|p.Arg621Arg|1938/5034|1863/3336|621/1111||,T|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|15/21|c.1863G>A|p.Arg621Arg|1938/4527|1863/2829|621/942||	GT:AD:DP:GQ:PL	0/1:8,2:10:39:39,0,267
chr1	149064321	rs76871456	T	G	77.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.26;QD=19.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|14/24|c.1853+110A>C||||||,G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|14/20|c.1853+110A>C||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:105,12,0
chr1	149064541	rs1459247140	A	T	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=15.101;MLEAC=1;MLEAF=0.5;MQ=39.44;MQRankSum=-0.997;QD=0.39;ReadPosRankSum=1.21;SOR=3.234;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200173145;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|13/24|c.1802-59T>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|13/20|c.1802-59T>A||||||	GT:AD:DP:GQ:PL	0/1:32,4:36:42:42,0,786
chr1	149064562	rs1311149633	A	G	64.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.29;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=16.561;MLEAC=1;MLEAF=0.5;MQ=39.37;MQRankSum=-0.986;QD=2.49;ReadPosRankSum=1.08;SOR=3.229;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs190933884;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|13/24|c.1802-80T>C||||||,G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|13/20|c.1802-80T>C||||||	GT:AD:DP:GQ:PL	0/1:22,4:26:93:93,0,569
chr1	149069781	rs1242201446	G	T	39.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.385;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.98;MQRankSum=-1.96;QD=6.63;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201144066;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|11/24|c.1586-136C>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|11/20|c.1586-136C>A||||||	GT:AD:DP:GQ:PL	0/1:3,3:6:68:68,0,70
chr1	149071477	rs1350258915	C	A	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.729;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=15.441;MLEAC=1;MLEAF=0.5;MQ=46.76;MQRankSum=-1.461;QD=1.12;ReadPosRankSum=0.851;SOR=2.2;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|10/24|c.1379+127G>T||||||,A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|10/20|c.1379+127G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,2:15:45:0|1:149071477_C_A:45,0,890
chr1	149071478	rs1313652583	A	T	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.33;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=15.441;MLEAC=1;MLEAF=0.5;MQ=46.76;MQRankSum=-1.461;QD=1.12;ReadPosRankSum=0.85;SOR=2.2;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|10/24|c.1379+126T>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|10/20|c.1379+126T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,2:15:45:0|1:149071477_C_A:45,0,890
chr1	149071644	rs1295459628	T	C	423.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.17;QD=30.27;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|10/25|c.1339A>G|p.Ile447Val|1414/5034|1339/3336|447/1111||,C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|10/21|c.1339A>G|p.Ile447Val|1414/4527|1339/2829|447/942||	GT:AD:DP:GQ:PL	1/1:0,14:14:42:452,42,0
chr1	149071659	rs1349104656	C	T	377.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.649;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.979;MLEAC=2;MLEAF=1;MQ=30.01;MQRankSum=0.832;QD=25.19;ReadPosRankSum=0;SOR=1.108;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|10/25|c.1324G>A|p.Asp442Asn|1399/5034|1324/3336|442/1111||,T|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|10/21|c.1324G>A|p.Asp442Asn|1399/4527|1324/2829|442/942||	GT:AD:DP:GQ:PL	1/1:1,14:15:18:406,18,0
chr1	149073788	rs1441423167	C	G	72.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.817;MLEAC=1;MLEAF=0.5;MQ=39.37;MQRankSum=-2.22;QD=2.08;ReadPosRankSum=-1.161;SOR=1.297;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77446849;dbSNPBuildID=151;ANN=G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|8/25|c.1071G>C|p.Leu357Leu|1146/5034|1071/3336|357/1111||,G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|8/21|c.1071G>C|p.Leu357Leu|1146/4527|1071/2829|357/942||	GT:AD:DP:GQ:PL	0/1:29,6:35:99:101,0,819
chr1	149073857	rs1358761587	A	G	226.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.641;MLEAC=1;MLEAF=0.5;MQ=36.9;MQRankSum=-1.417;QD=7.32;ReadPosRankSum=1.2;SOR=0.319;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9424680;dbSNPBuildID=151;ANN=G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|8/25|c.1002T>C|p.Cys334Cys|1077/5034|1002/3336|334/1111||,G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|8/21|c.1002T>C|p.Cys334Cys|1077/4527|1002/2829|334/942||	GT:AD:DP:GQ:PL	0/1:21,10:31:99:255,0,603
chr1	149073894	rs1357701777	C	T	525.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.548;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.57;MQRankSum=-0.36;QD=18.13;ReadPosRankSum=-1.493;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|7/24|c.989-24G>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|7/20|c.989-24G>A||||||	GT:AD:DP:GQ:PL	0/1:10,19:29:99:554,0,289
chr1	149075573	rs3961871	T	A	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.054;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.32;MQRankSum=-4.616;QD=4.51;ReadPosRankSum=0.32;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNPBuildID=117;ANN=A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|7/24|c.988+82A>T||||||,A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|7/20|c.988+82A>T||||||	GT:AD:DP:GQ:PL	0/1:18,5:23:99:132,0,549
chr1	149075594	rs779361157	C	T	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.386;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=5.619;MLEAC=1;MLEAF=0.5;MQ=51.06;MQRankSum=-5.365;QD=9.62;ReadPosRankSum=-2.157;SOR=2.235;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9730030;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|7/24|c.988+61G>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|7/20|c.988+61G>A||||||	GT:AD:DP:GQ:PL	0/1:20,12:32:99:336,0,650
chr1	149075614	rs1335529595	G	A	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=11.982;MLEAC=1;MLEAF=0.5;MQ=50.61;MQRankSum=-6.24;QD=6.74;ReadPosRankSum=-1.862;SOR=3.426;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|7/24|c.988+41C>T||||||,A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|7/20|c.988+41C>T||||||	GT:AD:DP:GQ:PL	0/1:26,10:36:99:271,0,753
chr1	149075685	rs1385733241	C	A	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.857;ClippingRankSum=0;DP=144;ExcessHet=3.0103;FS=3.153;MLEAC=1;MLEAF=0.5;MQ=44.22;MQRankSum=-1.254;QD=2.38;ReadPosRankSum=-0.045;SOR=1.102;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|7/25|c.958G>T|p.Gly320Cys|1033/5034|958/3336|320/1111||,A|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|7/21|c.958G>T|p.Gly320Cys|1033/4527|958/2829|320/942||	GT:AD:DP:GQ:PL	0/1:117,27:144:99:371,0,3510
chr1	149075700	rs78300854	G	C	2421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.521;ClippingRankSum=0;DP=147;ExcessHet=3.0103;FS=1.476;MLEAC=1;MLEAF=0.5;MQ=43.59;MQRankSum=-4.407;QD=16.47;ReadPosRankSum=1.32;SOR=0.904;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3979893;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|7/25|c.943C>G|p.Leu315Val|1018/5034|943/3336|315/1111||,C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|7/21|c.943C>G|p.Leu315Val|1018/4527|943/2829|315/942||	GT:AD:DP:GQ:PL	0/1:52,95:147:99:2450,0,1172
chr1	149075770	rs77227811	G	C	2633.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.353;ClippingRankSum=0;DP=161;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.33;MQRankSum=-0.558;QD=16.36;ReadPosRankSum=0.455;SOR=0.682;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7411539;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|7/25|c.873C>G|p.Ile291Met|948/5034|873/3336|291/1111||,C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|7/21|c.873C>G|p.Ile291Met|948/4527|873/2829|291/942||	GT:AD:DP:GQ:PL	0/1:57,104:161:99:2662,0,1320
chr1	149075807	rs1342568482	A	C	429.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=1.915;MLEAC=1;MLEAF=0.5;MQ=35.28;MQRankSum=0.093;QD=3.47;ReadPosRankSum=-0.394;SOR=0.467;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|7/25|c.836T>G|p.Leu279Trp|911/5034|836/3336|279/1111||,C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|7/21|c.836T>G|p.Leu279Trp|911/4527|836/2829|279/942||	GT:AD:DP:GQ:PL	0/1:99,25:124:99:458,0,2584
chr1	149075958	.	T	C	101.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.03;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=6.773;MLEAC=1;MLEAF=0.5;MQ=39;MQRankSum=-2.147;QD=3.18;ReadPosRankSum=0.928;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3979895;ANN=C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|6/24|c.779-94A>G||||||,C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|6/20|c.779-94A>G||||||	GT:AD:DP:GQ:PL	0/1:26,6:32:99:130,0,639
chr1	149075975	rs7412385	T	A	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.63;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.66;MQRankSum=-2.472;QD=5.44;ReadPosRankSum=1.62;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|6/24|c.779-111A>T||||||,A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|6/20|c.779-111A>T||||||	GT:AD:DP:GQ:PL	0/1:21,8:29:99:186,0,539
chr1	149077782	rs75016490	G	A	844.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.643;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.69;MLEAC=1;MLEAF=0.5;MQ=53.2;MQRankSum=0.414;QD=16.9;ReadPosRankSum=2.36;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|5/24|c.566+101C>T||||||,A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|5/20|c.566+101C>T||||||	GT:AD:DP:GQ:PL	0/1:20,30:50:99:873,0,599
chr1	149077959	rs1186056450	G	T	1114.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.81;QD=33.78;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|splice_region_variant&intron_variant|LOW|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|4/24|c.494-4C>A||||||,T|splice_region_variant&intron_variant|LOW|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|4/20|c.494-4C>A||||||	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1143,99,0
chr1	149078922	rs78960656	T	C	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.21;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.36;MQRankSum=0.248;QD=6.12;ReadPosRankSum=-0.415;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370405965;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|4/24|c.493+85A>G||||||,C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|4/20|c.493+85A>G||||||	GT:AD:DP:GQ:PL	0/1:10,5:15:99:120,0,254
chr1	149079092	rs1261190247	C	T	15.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.609;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.932;MLEAC=1;MLEAF=0.5;MQ=35.24;MQRankSum=-1.795;QD=1.32;ReadPosRankSum=-0.674;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202114775;dbSNPBuildID=151;ANN=T|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|4/25|c.408G>A|p.Pro136Pro|483/5034|408/3336|136/1111||,T|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|4/21|c.408G>A|p.Pro136Pro|483/4527|408/2829|136/942||	GT:AD:DP:GQ:PL	0/1:9,3:12:44:44,0,288
chr1	149079127	.	C	G	14.91	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=36.62;MQRankSum=-1.068;QD=1.86;ReadPosRankSum=0.921;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200951275,rs200621777;ANN=G|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|4/25|c.373G>C|p.Glu125Gln|448/5034|373/3336|125/1111||,G|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|4/21|c.373G>C|p.Glu125Gln|448/4527|373/2829|125/942||	GT:AD:DP:GQ:PL	0/1:6,2:8:43:43,0,223
chr1	149079977	rs878899497	T	C	593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.38;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=2.307;MLEAC=1;MLEAF=0.5;MQ=42.18;MQRankSum=-5.412;QD=8.13;ReadPosRankSum=0.051;SOR=1.079;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3895198;dbSNPBuildID=147;ANN=C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|3/24|c.278+76A>G||||||,C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|3/20|c.278+76A>G||||||	GT:AD:DP:GQ:PL	0/1:45,28:73:99:622,0,1153
chr1	149080073	rs1248580027	C	G	2449.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.085;ClippingRankSum=0;DP=163;ExcessHet=3.0103;FS=0.594;MLEAC=1;MLEAF=0.5;MQ=37.6;MQRankSum=-5.825;QD=15.03;ReadPosRankSum=1.37;SOR=0.702;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|3/25|c.258G>C|p.Leu86Leu|333/5034|258/3336|86/1111||,G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|3/21|c.258G>C|p.Leu86Leu|333/4527|258/2829|86/942||	GT:AD:DP:GQ:PL	0/1:61,102:163:99:2478,0,1372
chr1	149080135	rs1241305088	G	C	416.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.289;ClippingRankSum=0;DP=143;ExcessHet=3.0103;FS=2.631;MLEAC=1;MLEAF=0.5;MQ=35.63;MQRankSum=-0.403;QD=2.91;ReadPosRankSum=-0.635;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199907828;dbSNPBuildID=151;ANN=C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|3/25|c.196C>G|p.Leu66Val|271/5034|196/3336|66/1111||,C|missense_variant|MODERATE|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|3/21|c.196C>G|p.Leu66Val|271/4527|196/2829|66/942||	GT:AD:DP:GQ:PL	0/1:111,32:143:99:445,0,3230
chr1	149080142	rs1483079100	A	G	485.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.95;ClippingRankSum=0;DP=130;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.38;MQRankSum=0.989;QD=3.74;ReadPosRankSum=2.21;SOR=0.727;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373006661;dbSNPBuildID=151;ANN=G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|3/25|c.189T>C|p.Cys63Cys|264/5034|189/3336|63/1111||,G|synonymous_variant|LOW|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|3/21|c.189T>C|p.Cys63Cys|264/4527|189/2829|63/942||	GT:AD:DP:GQ:PL	0/1:103,27:130:99:514,0,3023
chr1	149080174	rs1478904955	G	A	205.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.067;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=2.401;MLEAC=1;MLEAF=0.5;MQ=31.61;MQRankSum=-1.215;QD=3.03;ReadPosRankSum=-1.077;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|2/24|c.176-19C>T||||||,A|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|2/20|c.176-19C>T||||||	GT:AD:DP:GQ:PL	0/1:54,14:68:99:234,0,1841
chr1	149080175	rs1198211876	C	T	49.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.956;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.42;MQRankSum=-1.81;QD=0.74;ReadPosRankSum=-0.717;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|2/24|c.176-20G>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|2/20|c.176-20G>A||||||	GT:AD:DP:GQ:PL	0/1:58,9:67:78:78,0,2069
chr1	149080235	rs1469207302	G	T	61.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.242;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=37.39;MLEAC=1;MLEAF=0.5;MQ=31.23;MQRankSum=1.22;QD=1.54;ReadPosRankSum=-0.107;SOR=1.387;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|2/24|c.176-80C>A||||||,T|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|2/20|c.176-80C>A||||||	GT:AD:DP:GQ:PL	0/1:33,7:40:90:90,0,1198
chr1	149080256	.	C	G	457.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.995;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=15.107;MLEAC=1;MLEAF=0.5;MQ=32.33;MQRankSum=-0.586;QD=12.37;ReadPosRankSum=0.294;SOR=3.928;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|2/24|c.176-101G>C||||||,G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|2/20|c.176-101G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,14:37:99:0|1:149080256_C_G:486,0,911
chr1	149080271	rs76957223	G	C	409.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.68;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=14.956;MLEAC=1;MLEAF=0.5;MQ=32.55;MQRankSum=-0.492;QD=12.42;ReadPosRankSum=-0.586;SOR=3.893;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|2/24|c.176-116C>G||||||,C|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|2/20|c.176-116C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,12:33:99:0|1:149080256_C_G:438,0,878
chr1	149080277	rs75838970	A	G	331.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.51;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=11.957;MLEAC=1;MLEAF=0.5;MQ=32.03;MQRankSum=-0.557;QD=11.06;ReadPosRankSum=-0.386;SOR=3.702;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001277444.1|protein_coding|2/24|c.176-122T>C||||||,G|intron_variant|MODIFIER|NBPF9|NBPF9|transcript|NM_001037675.3|protein_coding|2/20|c.176-122T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,10:30:99:0|1:149080256_C_G:360,0,810
chr1	149176067	rs1342188597	G	C	46.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.03;MQRankSum=0.967;QD=15.59;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|NBPF9-PPIAL4C|NBPF9-PPIAL4C|intergenic_region|NBPF9-PPIAL4C|||n.149176067G>C||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:33:75,0,33
chr1	149176847	rs1828015	T	C	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.088;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.54;MQRankSum=-3.254;QD=4.18;ReadPosRankSum=-0.518;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=104;ANN=C|intergenic_region|MODIFIER|NBPF9-PPIAL4C|NBPF9-PPIAL4C|intergenic_region|NBPF9-PPIAL4C|||n.149176847T>C||||||	GT:AD:DP:GQ:PL	0/1:10,5:15:91:91,0,228
chr1	149176975	rs1356351998	C	A	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.76;MQRankSum=0.126;QD=8.55;ReadPosRankSum=0.253;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371879743;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF9-PPIAL4C|NBPF9-PPIAL4C|intergenic_region|NBPF9-PPIAL4C|||n.149176975C>A||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:57:71,0,57
chr1	149177016	rs1278372414	G	A	135.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.86;QD=27.18;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs376573006;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF9-PPIAL4C|NBPF9-PPIAL4C|intergenic_region|NBPF9-PPIAL4C|||n.149177016G>A||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:164,15,0
chr1	149476006	rs1450463980	G	A	23.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=8.436;MLEAC=1;MLEAF=0.5;MQ=32.72;MQRankSum=-1.26;QD=0.49;ReadPosRankSum=-1.704;SOR=2.935;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF9-PPIAL4C|NBPF9-PPIAL4C|intergenic_region|NBPF9-PPIAL4C|||n.149476006G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:44,5:49:52:0|1:149475995_C_T:52,0,3324
chr1	149486155	rs1376955667	G	A	49.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=24.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|NBPF9-PPIAL4C|NBPF9-PPIAL4C|intergenic_region|NBPF9-PPIAL4C|||n.149486155G>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:77,6,0
chr1	149554594	rs1190145844	C	G	1100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=-0.329;QD=11.35;ReadPosRankSum=1.19;SOR=0.674;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intergenic_region|MODIFIER|NBPF9-PPIAL4C|NBPF9-PPIAL4C|intergenic_region|NBPF9-PPIAL4C|||n.149554594C>G||||||	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1129,0,1608
chr1	149584102	rs1490436534	C	T	100.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.474;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.608;MLEAC=1;MLEAF=0.5;MQ=26.62;MQRankSum=0.019;QD=2.8;ReadPosRankSum=0.285;SOR=1.104;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|PPIAL4C|PPIAL4C|transcript|NM_001135789.3|protein_coding|1/1|c.205C>T|p.Arg69Cys|280/785|205/495|69/164||	GT:AD:DP:GQ:PL	0/1:28,8:36:99:129,0,741
chr1	149607944	rs1225744102	G	C	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.63;MQRankSum=-0.606;QD=1.12;ReadPosRankSum=-1.095;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111950.1|pseudogene|1/8|n.543+390G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111951.1|pseudogene|1/2|n.543+390G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111952.1|pseudogene|1/1|n.543+390G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111953.1|pseudogene|1/2|n.543+390G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,2:15:45:0|1:149607944_G_C:45,0,681
chr1	149607947	rs1370144202	G	C	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.63;MQRankSum=-0.606;QD=1.12;ReadPosRankSum=-0.655;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111950.1|pseudogene|1/8|n.543+393G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111951.1|pseudogene|1/2|n.543+393G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111952.1|pseudogene|1/1|n.543+393G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111953.1|pseudogene|1/2|n.543+393G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,2:15:45:0|1:149607944_G_C:45,0,681
chr1	149608309	rs1225241588	G	C	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=23.22;MQRankSum=0;QD=2.41;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111950.1|pseudogene|1/8|n.543+755G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111951.1|pseudogene|1/2|n.543+755G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111952.1|pseudogene|1/1|n.543+755G>C||||||,C|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111953.1|pseudogene|1/2|n.543+755G>C||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:40:40,0,69
chr1	149608320	rs1278866636	G	A	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=23.22;MQRankSum=0;QD=2.41;ReadPosRankSum=0.524;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111950.1|pseudogene|1/8|n.543+766G>A||||||,A|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111951.1|pseudogene|1/2|n.543+766G>A||||||,A|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111952.1|pseudogene|1/1|n.543+766G>A||||||,A|intron_variant|MODIFIER|LINC00869|LINC00869|transcript|NR_111953.1|pseudogene|1/2|n.543+766G>A||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:40:40,0,69
chr1	149813197	rs587641094	C	T	404.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.029;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.5;MQRankSum=0.513;QD=22.49;ReadPosRankSum=0.736;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|upstream_gene_variant|MODIFIER|HIST2H2BF|HIST2H2BF|transcript|NM_001161334.1|protein_coding||c.-874G>A|||||824|,T|upstream_gene_variant|MODIFIER|HIST2H2BF|HIST2H2BF|transcript|NM_001024599.4|protein_coding||c.-874G>A|||||824|,T|downstream_gene_variant|MODIFIER|HIST2H3D|HIST2H3D|transcript|NM_001123375.2|protein_coding||c.*74G>A|||||28|,T|intergenic_region|MODIFIER|HIST2H2BF-HIST2H3D|HIST2H2BF-HIST2H3D|intergenic_region|HIST2H2BF-HIST2H3D|||n.149813197C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=92;p3_1000G_AF=0.0183706;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=18069;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149784752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,14:18:93:433,0,93
chr1	149843446	rs3029050;rs542458522;rs57786960	GCTCC	G	496.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.342;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=5.842;MLEAC=1;MLEAF=0.5;MQ=54.78;MQRankSum=-1.146;QD=29.22;ReadPosRankSum=0.852;SOR=0.086;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3029050;dbSNPBuildID=137,102,142;ANN=G|upstream_gene_variant|MODIFIER|HIST2H3A|HIST2H3A.2|transcript|NM_001005464.2.2|protein_coding||c.-2293_-2290delGGAG|||||2254|,G|upstream_gene_variant|MODIFIER|HIST2H3C|HIST2H3C|transcript|NM_021059.2|protein_coding||c.-2293_-2290delGGAG|||||2254|,G|upstream_gene_variant|MODIFIER|HIST2H2AA4|HIST2H2AA4.2|transcript|NM_001040874.1.2|protein_coding||c.-752_-749delGGAG|||||696|,G|upstream_gene_variant|MODIFIER|HIST2H2AA3|HIST2H2AA3|transcript|NM_003516.2|protein_coding||c.-752_-749delGGAG|||||696|,G|intergenic_region|MODIFIER|HIST2H2AA3-HIST2H2BC|HIST2H2AA3-HIST2H2BC|intergenic_region|HIST2H2AA3-HIST2H2BC|||n.149843447_149843450delCTCC||||||	GT:AD:DP:GQ:PL	0/1:4,13:17:99:534,0,178
chr1	149850345	rs138035086	CGGAG	C	437.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.02;QD=30.54;SOR=1.27;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs138035086;dbSNPBuildID=134;ANN=C|upstream_gene_variant|MODIFIER|HIST2H2AA4|HIST2H2AA4|transcript|NM_001040874.1|protein_coding||c.-768_-765delGGAG|||||715|,C|upstream_gene_variant|MODIFIER|HIST2H2AA3|HIST2H2AA3.2|transcript|NM_003516.2.2|protein_coding||c.-768_-765delGGAG|||||715|,C|upstream_gene_variant|MODIFIER|HIST2H3A|HIST2H3A|transcript|NM_001005464.2|protein_coding||c.-2309_-2306delGGAG|||||2273|,C|upstream_gene_variant|MODIFIER|HIST2H3C|HIST2H3C.2|transcript|NM_021059.2.2|protein_coding||c.-2309_-2306delGGAG|||||2273|,C|non_coding_transcript_exon_variant|MODIFIER|HIST2H2BC|HIST2H2BC|transcript|NR_036461.1|pseudogene|1/1|n.425_428delCTCC||||||	GT:AD:DP:GQ:PL	1/1:0,11:11:33:475,33,0
chr1	149909621	rs55909843	A	C	526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.762;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.62;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55909843;dbSNPBuildID=129;ANN=C|upstream_gene_variant|MODIFIER|SV2A|SV2A|transcript|NM_001278719.1|protein_coding||c.-2731T>G|||||2630|,C|intron_variant|MODIFIER|SV2A|SV2A|transcript|NM_001328674.1|protein_coding|6/12|c.1180-50T>G||||||,C|intron_variant|MODIFIER|SV2A|SV2A|transcript|NM_001328675.1|protein_coding|6/12|c.1180-50T>G||||||,C|intron_variant|MODIFIER|SV2A|SV2A|transcript|NM_014849.4|protein_coding|6/12|c.1180-50T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=867;p3_1000G_AF=0.173123;p3_1000G_AFR_AF=0.4856;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=17962;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149881173;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1795,2611;ESP6500_AA_AGE=623.9+/-394.2;ESP6500_AA_GTC=373,1049,781;ESP6500_CDS_SIZES=NM_014849.3:2229;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=41;ESP6500_EA_AC=1019,7581;ESP6500_EA_AGE=758.6+/-407.5;ESP6500_EA_GTC=76,867,3357;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014849.3:intron;ESP6500_GL=SV2A;ESP6500_GRCh38_POSITION=1:149909621;ESP6500_GTC=449,1916,4138;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014849.3:c.1180-50T>G;ESP6500_MAF=11.8488,40.7399,21.6362;ESP6500_TAC=2814,10192	GT:AD:DP:GQ:PGT:PID:PL	0/1:32,16:48:99:0|1:149909621_A_C:555,0,1509
chr1	149909631	rs56351279	C	T	517.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.016;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=4.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.9;SOR=1.545;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56351279;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|SV2A|SV2A|transcript|NM_001278719.1|protein_coding||c.-2741G>A|||||2640|,T|intron_variant|MODIFIER|SV2A|SV2A|transcript|NM_001328674.1|protein_coding|6/12|c.1180-60G>A||||||,T|intron_variant|MODIFIER|SV2A|SV2A|transcript|NM_001328675.1|protein_coding|6/12|c.1180-60G>A||||||,T|intron_variant|MODIFIER|SV2A|SV2A|transcript|NM_014849.4|protein_coding|6/12|c.1180-60G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=798;p3_1000G_AF=0.159345;p3_1000G_AFR_AF=0.4357;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=17584;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149881183;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,15:40:99:0|1:149909621_A_C:546,0,1418
chr1	149933386	rs72692821	G	A	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.18;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=1.8;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72692821;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|MTMR11|MTMR11|transcript|NM_001145862.1|protein_coding|10/16|c.985+20C>T||||||,A|intron_variant|MODIFIER|MTMR11|MTMR11|transcript|NM_181873.3|protein_coding|9/16|c.769+20C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=901;p3_1000G_AF=0.179912;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=19843;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.1332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149905279;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=233,4173;ESP6500_AA_AGE=138.0+/-173.8;ESP6500_AA_GTC=7,219,1977;ESP6500_CDS_SIZES=NM_181873.3:1923,NM_001145862.1:2130;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=123;ESP6500_EA_AC=1228,7372;ESP6500_EA_AGE=247.8+/-275.7;ESP6500_EA_GTC=103,1022,3175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181873.3:intron,NM_001145862.1:intron;ESP6500_GL=MTMR11;ESP6500_GRCh38_POSITION=1:149933386;ESP6500_GTC=110,1241,5152;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181873.3:c.769+20C>T,NM_001145862.1:c.985+20C>T;ESP6500_MAF=14.2791,5.2882,11.2333;ESP6500_TAC=1461,11545	GT:AD:DP:GQ:PL	0/1:13,18:31:99:548,0,387
chr1	149934520	rs11205303	T	C	642.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.96;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=4.124;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.157;SOR=1.318;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11205303;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|MTMR11|MTMR11|transcript|NM_001145862.1|protein_coding|6/17|c.475A>G|p.Met159Val|726/2859|475/2130|159/709||,C|missense_variant|MODERATE|MTMR11|MTMR11|transcript|NM_181873.3|protein_coding|5/17|c.259A>G|p.Met87Val|468/2348|259/1923|87/640||;p3_1000G_AA=T|||;p3_1000G_AC=1145;p3_1000G_AF=0.228634;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=21469;p3_1000G_EAS_AF=0.2837;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149906413;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=383,4023;ESP6500_AA_AGE=194.3+/-219.2;ESP6500_AA_GTC=20,343,1840;ESP6500_CDS_SIZES=NM_181873.3:1923,NM_001145862.1:2130;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=102;ESP6500_EA_AC=3473,5127;ESP6500_EA_AGE=509.2+/-377.2;ESP6500_EA_GTC=717,2039,1544;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181873.3:missense,NM_001145862.1:missense;ESP6500_GL=MTMR11;ESP6500_GRCh38_POSITION=1:149934520;ESP6500_GS=21,21;ESP6500_GTC=737,2382,3384;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181873.3:c.259A>G,NM_001145862.1:c.475A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181873.3:p.(M87V),NM_001145862.1:p.(M159V);ESP6500_MAF=40.3837,8.6927,29.6479;ESP6500_PH=benign:0.136,benign:0.136;ESP6500_TAC=3856,9150	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,25:53:99:1|0:149934516_G_A:671,0,683
chr1	149936215	rs1868992	A	G	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.763;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.306;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1868992;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|MTMR11|MTMR11|transcript|NM_001145862.1|protein_coding|2/17|c.81T>C|p.Asn27Asn|332/2859|81/2130|27/709||,G|5_prime_UTR_variant|MODIFIER|MTMR11|MTMR11|transcript|NM_181873.3|protein_coding|1/17|c.-51T>C|||||51|,G|downstream_gene_variant|MODIFIER|OTUD7B|OTUD7B|transcript|NM_020205.3|protein_coding||c.*7642T>C|||||4115|;p3_1000G_AA=G|||;p3_1000G_AC=2087;p3_1000G_AF=0.416733;p3_1000G_AFR_AF=0.6914;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=18119;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.2594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149908108;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2708,1698;ESP6500_AA_AGE=513.9+/-368.5;ESP6500_AA_GTC=837,1034,332;ESP6500_CDS_SIZES=NM_181873.3:1923,NM_001145862.1:2130;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=91;ESP6500_EA_AC=2236,6364;ESP6500_EA_AGE=709.0+/-405.7;ESP6500_EA_GTC=320,1596,2384;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181873.3:utr-5,NM_001145862.1:coding-synonymous;ESP6500_GL=MTMR11;ESP6500_GRCh38_POSITION=1:149936215;ESP6500_GTC=1157,2630,2716;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181873.3:c.-51T>C,NM_001145862.1:c.81T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001145862.1:p.(N27);ESP6500_MAF=26.0,38.5384,38.0132;ESP6500_TAC=4944,8062	GT:AD:DP:GQ:PL	0/1:23,17:40:99:422,0,574
chr1	149959622	rs4926400	G	A	1017.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.763;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=3.507;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-1.272;SOR=0.341;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4926400;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|OTUD7B|OTUD7B|transcript|NM_020205.3|protein_coding|7/11|c.845+62C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=957;p3_1000G_AF=0.191094;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=19852;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149931541;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,37:73:99:1046,0,1127
chr1	150110399	rs1246990164	C	CA	175.27	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=1.04;SOR=1.802;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=CA|intron_variant|MODIFIER|VPS45|VPS45|transcript|NM_007259.4|protein_coding|13/14|c.1494-88dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|VPS45|VPS45|transcript|NM_001279353.1|protein_coding|11/13|c.1179-88dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|VPS45|VPS45|transcript|NM_001279354.1|protein_coding|13/14|c.1386-88dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|VPS45|VPS45|transcript|NM_001279355.1|protein_coding|10/11|c.1125-88dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|VPS45|VPS45|transcript|NR_103998.1|pseudogene|12/13|n.1708-88dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,9:10:1:210,1,0
chr1	150226707	rs1211865861;rs68136184	CTCCTCT	C	1194.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56692627,rs68136184;dbSNPBuildID=151;ANN=C|disruptive_inframe_deletion|MODERATE|ANP32E|ANP32E|transcript|NM_030920.4|protein_coding|5/7|c.576_581delAGAGGA|p.Glu193_Glu194del|951/3451|576/807|192/268||,C|disruptive_inframe_deletion|MODERATE|ANP32E|ANP32E|transcript|NM_001136479.2|protein_coding|5/7|c.432_437delAGAGGA|p.Glu145_Glu146del|627/3127|432/663|144/220||,C|disruptive_inframe_deletion|MODERATE|ANP32E|ANP32E|transcript|NM_001136478.3|protein_coding|4/6|c.453_458delAGAGGA|p.Glu152_Glu153del|828/3328|453/684|151/227||,C|disruptive_inframe_deletion|MODERATE|ANP32E|ANP32E|transcript|NM_001280559.1|protein_coding|5/7|c.576_581delAGAGGA|p.Glu193_Glu194del|951/3448|576/804|192/267||,C|disruptive_inframe_deletion|MODERATE|ANP32E|ANP32E|transcript|NM_001280560.1|protein_coding|4/5|c.410_415delAGAGGA|p.Lys137_Arg138del|785/3230|410/498|137/165||;ESP6500_AA_AC=627,3639;ESP6500_AA_GTC=79,469,1585;ESP6500_CDS_SIZES=NM_030920.3:807,NM_001136479.1:663,NM_001136478.2:684;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=261;ESP6500_EA_AC=1908,6340;ESP6500_EA_GTC=294,1320,2510;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030920.3:coding,NM_001136479.1:coding,NM_001136478.2:coding;ESP6500_GL=ANP32E;ESP6500_GRCh38_POSITION=1:150226707;ESP6500_GTC=373,1789,4095;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_030920.3:c.576_581del6,NM_001136479.1:c.432_437del6,NM_001136478.2:c.453_458del6;ESP6500_HGVS_PROTEIN_VAR=NM_030920.3:p.(E192_E194delinsE),NM_001136479.1:p.(E144_E146delinsE),NM_001136478.2:p.(E151_E153delinsE);ESP6500_MAF=23.1329,14.6976,20.2573;ESP6500_TAC=2535,9979	GT:AD:DP:GQ:PL	1/1:0,28:28:85:1232,85,0
chr1	150226791	rs7522034	G	T	684.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7522034;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|ANP32E|ANP32E|transcript|NM_001280560.1|protein_coding|4/5|c.332C>A|p.Ala111Glu|702/3230|332/498|111/165||,T|synonymous_variant|LOW|ANP32E|ANP32E|transcript|NM_030920.4|protein_coding|5/7|c.498C>A|p.Gly166Gly|868/3451|498/807|166/268||,T|synonymous_variant|LOW|ANP32E|ANP32E|transcript|NM_001136479.2|protein_coding|5/7|c.354C>A|p.Gly118Gly|544/3127|354/663|118/220||,T|synonymous_variant|LOW|ANP32E|ANP32E|transcript|NM_001136478.3|protein_coding|4/6|c.375C>A|p.Gly125Gly|745/3328|375/684|125/227||,T|synonymous_variant|LOW|ANP32E|ANP32E|transcript|NM_001280559.1|protein_coding|5/7|c.498C>A|p.Gly166Gly|868/3448|498/804|166/267||;p3_1000G_AA=T|||;p3_1000G_AC=3015;p3_1000G_AF=0.602037;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=19153;p3_1000G_EAS_AF=0.5456;p3_1000G_EUR_AF=0.4304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150199123;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3621,785;ESP6500_AA_AGE=315.8+/-294.3;ESP6500_AA_GTC=1488,645,70;ESP6500_CDS_SIZES=NM_030920.3:807,NM_001136479.1:663,NM_001136478.2:684;ESP6500_CG=-3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=102;ESP6500_EA_AC=3578,5022;ESP6500_EA_AGE=627.1+/-397.9;ESP6500_EA_GTC=744,2090,1466;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030920.3:coding-synonymous,NM_001136479.1:coding-synonymous,NM_001136478.2:coding-synonymous;ESP6500_GL=ANP32E;ESP6500_GRCh38_POSITION=1:150226791;ESP6500_GTC=2232,2735,1536;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_030920.3:c.498C>A,NM_001136479.1:c.354C>A,NM_001136478.2:c.375C>A;ESP6500_HGVS_PROTEIN_VAR=NM_030920.3:p.(G166),NM_001136479.1:p.(G118),NM_001136478.2:p.(G125);ESP6500_MAF=41.6047,17.8166,44.6486;ESP6500_TAC=7199,5807	GT:AD:DP:GQ:PL	1/1:0,22:22:66:713,66,0
chr1	150230711	rs782288239	G	GA	677.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=0.963;INS;HOM;VARTYPE=INS;dbSNPBuildID=144;ANN=GA|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_030920.4|protein_coding|2/6|c.205-19dupT||||||,GA|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_001136479.2|protein_coding|2/6|c.61-19dupT||||||,GA|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_001136478.3|protein_coding|2/5|c.204+1065dupT||||||,GA|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_001280559.1|protein_coding|2/6|c.205-19dupT||||||,GA|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_001280560.1|protein_coding|2/4|c.205-19dupT||||||;ESP6500_AA_AC=1,4259;ESP6500_AA_GTC=0,1,2129;ESP6500_CDS_SIZES=NM_030920.3:807,NM_001136479.1:663,NM_001136478.2:684;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DP=74;ESP6500_EA_AC=0,8254;ESP6500_EA_GTC=0,0,4127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030920.3:intron,NM_001136479.1:intron,NM_001136478.2:intron;ESP6500_GL=ANP32E;ESP6500_GRCh38_POSITION=1:150230711;ESP6500_GTC=0,1,6256;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_030920.3:c.205-19_205-18insT,NM_001136479.1:c.61-19_61-18insT,NM_001136478.2:c.204+1068_204+1069insT;ESP6500_MAF=0.0,0.0235,0.0080;ESP6500_TAC=1,12513	GT:AD:DP:GQ:PL	1/1:0,23:23:69:715,69,0
chr1	150230746	rs587749354	C	CTTT	432.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.2;SOR=3.442;INS;HOM;VARTYPE=INS;dbSNPBuildID=142;ANN=CTTT|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_030920.4|protein_coding|2/6|c.205-56_205-54dupAAA||||||,CTTT|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_001136479.2|protein_coding|2/6|c.61-56_61-54dupAAA||||||,CTTT|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_001136478.3|protein_coding|2/5|c.204+1028_204+1030dupAAA||||||,CTTT|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_001280559.1|protein_coding|2/6|c.205-56_205-54dupAAA||||||,CTTT|intron_variant|MODIFIER|ANP32E|ANP32E|transcript|NM_001280560.1|protein_coding|2/4|c.205-56_205-54dupAAA||||||	GT:AD:DP:GQ:PL	1/1:0,9:9:36:456,36,0
chr1	150263915	rs34291619;rs782563632	C	CT	91.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-2.093;SOR=0.132;INS;HET;VARTYPE=INS;dbSNPBuildID=144,126;ANN=CT|downstream_gene_variant|MODIFIER|APH1A|APH1A|transcript|NM_001077628.2|protein_coding||c.*2214dupA|||||1483|,CT|downstream_gene_variant|MODIFIER|APH1A|APH1A|transcript|NM_001243771.1|protein_coding||c.*2606dupA|||||1483|,CT|downstream_gene_variant|MODIFIER|APH1A|APH1A|transcript|NM_001243772.1|protein_coding||c.*2214dupA|||||1483|,CT|downstream_gene_variant|MODIFIER|APH1A|APH1A|transcript|NM_016022.3|protein_coding||c.*2606dupA|||||1483|,CT|downstream_gene_variant|MODIFIER|APH1A|APH1A|transcript|NR_045033.1|pseudogene||n.*1483dupA|||||1483|,CT|downstream_gene_variant|MODIFIER|APH1A|APH1A|transcript|NR_045034.1|pseudogene||n.*1483dupA|||||1483|,CT|downstream_gene_variant|MODIFIER|APH1A|APH1A|transcript|NR_045035.1|pseudogene||n.*1483dupA|||||1483|,CT|intron_variant|MODIFIER|CA14|CA14|transcript|NM_012113.2|protein_coding|10/10|c.947+54dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,8:11:25:129,0,25
chr1	150276693	rs11205354	C	A	1051.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11205354;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_001301039.1|protein_coding|5/6|c.300+61C>A||||||,A|intron_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_001301040.1|protein_coding|5/6|c.300+61C>A||||||,A|intron_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_024579.3|protein_coding|4/5|c.300+61C>A||||||,A|intron_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_001301041.1|protein_coding|3/4|c.216+61C>A||||||,A|intron_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_001301042.1|protein_coding|4/4|c.300+61C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3444;p3_1000G_AF=0.6877;p3_1000G_AFR_AF=0.8994;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=17858;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.4751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150249101;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1080,96,0
chr1	150283177	rs2147324	T	C	701.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2147324;dbSNPBuildID=96;ANN=C|5_prime_UTR_variant|MODIFIER|CIART|CIART|transcript|NM_144697.3|protein_coding|1/5|c.-91T>C|||||91|,C|downstream_gene_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_001301039.1|protein_coding||c.*3439T>C|||||2253|,C|downstream_gene_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_001301040.1|protein_coding||c.*3439T>C|||||2253|,C|downstream_gene_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_024579.3|protein_coding||c.*3439T>C|||||2253|,C|downstream_gene_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_001301041.1|protein_coding||c.*3439T>C|||||2253|,C|downstream_gene_variant|MODIFIER|C1orf54|C1orf54|transcript|NM_001301042.1|protein_coding||c.*2277T>C|||||2253|,C|intron_variant|MODIFIER|CIART|CIART|transcript|NM_001300838.1|protein_coding|1/5|c.-60-31T>C||||||,C|intron_variant|MODIFIER|CIART|CIART|transcript|NM_001300839.1|protein_coding|1/5|c.-70-285T>C||||||,C|intron_variant|MODIFIER|CIART|CIART|transcript|NM_001300840.1|protein_coding|1/5|c.-18-337T>C||||||,C|intron_variant|MODIFIER|CIART|CIART|transcript|NM_001300841.1|protein_coding|1/5|c.-70-285T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3659;p3_1000G_AF=0.730631;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=17133;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150255587;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:730,66,0
chr1	150286426	rs1122967	C	G	2093.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=2.262;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1122967;dbSNPBuildID=86;ANN=G|splice_region_variant&intron_variant|LOW|CIART|CIART|transcript|NM_001300838.1|protein_coding|5/5|c.634-4C>G||||||,G|splice_region_variant&intron_variant|LOW|CIART|CIART|transcript|NM_001300839.1|protein_coding|5/5|c.370-4C>G||||||,G|splice_region_variant&intron_variant|LOW|CIART|CIART|transcript|NM_001300840.1|protein_coding|5/5|c.370-4C>G||||||,G|splice_region_variant&intron_variant|LOW|CIART|CIART|transcript|NM_144697.3|protein_coding|4/4|c.634-4C>G||||||,G|splice_region_variant&intron_variant|LOW|CIART|CIART|transcript|NM_001300841.1|protein_coding|5/5|c.370-4C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3745;p3_1000G_AF=0.747804;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=16648;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.5497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150258838;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6493;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3893,513;ESP6500_AA_AGE=236.5+/-248.6;ESP6500_AA_GTC=1723,447,33;ESP6500_CDS_SIZES=NM_144697.2:1158;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=123;ESP6500_EA_AC=4387,4213;ESP6500_EA_AGE=570.7+/-389.4;ESP6500_EA_GTC=1116,2155,1029;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144697.2:intron;ESP6500_GL=C1orf51;ESP6500_GRCh38_POSITION=1:150286426;ESP6500_GTC=2839,2602,1062;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_144697.2:c.634-4C>G;ESP6500_MAF=48.9884,11.6432,36.3371;ESP6500_TAC=8280,4726	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2122,171,0
chr1	150286988	rs9126	A	C	820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9126;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|CIART|CIART|transcript|NM_001300838.1|protein_coding|6/6|c.*34A>C|||||34|,C|3_prime_UTR_variant|MODIFIER|CIART|CIART|transcript|NM_001300839.1|protein_coding|6/6|c.*34A>C|||||34|,C|3_prime_UTR_variant|MODIFIER|CIART|CIART|transcript|NM_001300840.1|protein_coding|6/6|c.*34A>C|||||34|,C|3_prime_UTR_variant|MODIFIER|CIART|CIART|transcript|NM_144697.3|protein_coding|5/5|c.*34A>C|||||34|,C|3_prime_UTR_variant|MODIFIER|CIART|CIART|transcript|NM_001300841.1|protein_coding|6/6|c.*34A>C|||||34|;p3_1000G_AA=A|||;p3_1000G_AC=2574;p3_1000G_AF=0.513978;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=17498;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.4056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150259400;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1758,2648;ESP6500_AA_AGE=499.6+/-364.5;ESP6500_AA_GTC=332,1094,777;ESP6500_CDS_SIZES=NM_144697.2:1158;ESP6500_CG=0.1;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=33;ESP6500_EA_AC=3274,5326;ESP6500_EA_AGE=456.2+/-364.0;ESP6500_EA_GTC=631,2012,1657;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144697.2:utr-3;ESP6500_GL=C1orf51;ESP6500_GRCh38_POSITION=1:150286988;ESP6500_GTC=963,3106,2434;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_144697.2:c.*34A>C;ESP6500_MAF=38.0698,39.9001,38.6898;ESP6500_TAC=5032,7974	GT:AD:DP:GQ:PL	1/1:0,22:22:66:849,66,0
chr1	150308112	rs10480	T	C	1215.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.27;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|MRPS21|MRPS21|transcript|NM_018997.3|protein_coding|2/2|c.148T>C|p.Cys50Arg|673/1540|148/264|50/87||,C|missense_variant|MODERATE|MRPS21|MRPS21|transcript|NM_031901.5|protein_coding|3/3|c.148T>C|p.Cys50Arg|237/1104|148/264|50/87||;p3_1000G_AA=C|||;p3_1000G_AC=4960;p3_1000G_AF=0.99041534;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=17027;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.9751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=150280546;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1244,129,0
chr1	150324880	rs1410647259	C	CTTT	256.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.17;SOR=2.584;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=CTTT|splice_acceptor_variant&intron_variant|HIGH|PRPF3|PRPF3|transcript|NM_004698.2|protein_coding|1/15|c.-48-5_-48-3dupTTT||||||INFO_REALIGN_3_PRIME;LOF=(PRPF3|PRPF3|1|1.00)	GT:AD:DP:GQ:PL	1/1:0,4:4:21:241,21,0
chr1	150328268	rs834225	C	T	316.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.06;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PRPF3|PRPF3|transcript|NM_004698.2|protein_coding|3/15|c.277-52C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2490;p3_1000G_AF=0.497204;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=18377;p3_1000G_EAS_AF=0.7182999999999999;p3_1000G_EUR_AF=0.40559999999999996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=150300727;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:345,27,0
chr1	150471903	rs771653767	G	A	2744.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.153;ClippingRankSum=0;DP=199;ExcessHet=3.0103;FS=2.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.82;SOR=0.895;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|RPRD2|RPRD2|transcript|NM_001297673.1|protein_coding|11/11|c.2737G>A|p.Gly913Arg|3341/8003|2737/2805|913/934||,A|synonymous_variant|LOW|RPRD2|RPRD2|transcript|NM_015203.4|protein_coding|11/11|c.2955G>A|p.Thr985Thr|3559/8221|2955/4386|985/1461||,A|synonymous_variant|LOW|RPRD2|RPRD2|transcript|NM_001297674.1|protein_coding|10/10|c.2877G>A|p.Thr959Thr|3481/8143|2877/4308|959/1435||	GT:AD:DP:GQ:PL	0/1:93,106:199:99:2773,0,2516
chr1	150489172	rs759770032	C	T	24.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.13;ReadPosRankSum=0.524;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|upstream_gene_variant|MODIFIER|MIR6878|MIR6878|transcript|NR_106938.1|pseudogene||n.-3173C>T|||||3173|,T|intron_variant|MODIFIER|TARS2|TARS2|transcript|NM_025150.4|protein_coding|3/17|c.387+85C>T||||||,T|intron_variant|MODIFIER|TARS2|TARS2|transcript|NM_001271895.1|protein_coding|3/15|c.387+85C>T||||||,T|intron_variant|MODIFIER|TARS2|TARS2|transcript|NM_001271896.1|protein_coding|3/13|c.387+85C>T||||||,T|intron_variant|MODIFIER|TARS2|TARS2|transcript|NR_073513.1|pseudogene|3/13|n.375+184C>T||||||,T|intron_variant|MODIFIER|TARS2|TARS2|transcript|NR_073514.1|pseudogene|3/16|n.474+85C>T||||||	GT:AD:DP:GQ:PL	0/1:4,2:6:53:53,0,128
chr1	150555614	rs10687239;rs146160043;~rs66703603	G	GACAC	498.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.71;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs146160043;dbSNPBuildID=134,126;ANN=GACAC|downstream_gene_variant|MODIFIER|MIR4257|MIR4257|transcript|NR_036211.1|pseudogene||n.*3600_*3601insACAC|||||3601|,GACAC|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_001288608.1|protein_coding|9/19|c.1440+51_1440+54dupCACA||||||INFO_REALIGN_3_PRIME,GACAC|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_025008.4|protein_coding|8/14|c.1371+51_1371+54dupCACA||||||INFO_REALIGN_3_PRIME,GACAC|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_001288607.1|protein_coding|9/19|c.1440+51_1440+54dupCACA||||||INFO_REALIGN_3_PRIME,GACAC|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_019032.5|protein_coding|8/18|c.1371+51_1371+54dupCACA||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=2482,1778;ESP6500_AA_GTC=750,982,398;ESP6500_CDS_SIZES=NM_025008.3:2634,NM_019032.4:3225;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=47;ESP6500_EA_AC=5119,3133;ESP6500_EA_GTC=1612,1895,619;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025008.3:intron,NM_019032.4:intron;ESP6500_GL=ADAMTSL4;ESP6500_GRCh38_POSITION=1:150555614;ESP6500_GTC=2362,2877,1017;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025008.3:c.1371+49_1371+50insACAC,NM_019032.4:c.1371+49_1371+50insACAC;ESP6500_MAF=37.9666,41.7371,39.2503;ESP6500_TAC=7601,4911	GT:AD:DP:GQ:PL	1/1:0,12:12:36:536,36,0
chr1	150555642	rs149100901	T	TACAC	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.68;SOR=4.804;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs149100901;dbSNPBuildID=134;ANN=TACAC|downstream_gene_variant|MODIFIER|MIR4257|MIR4257|transcript|NR_036211.1|pseudogene||n.*3628_*3629insACAC|||||3629|,TACAC|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_001288608.1|protein_coding|9/19|c.1440+81_1440+84dupCACA||||||INFO_REALIGN_3_PRIME,TACAC|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_025008.4|protein_coding|8/14|c.1371+81_1371+84dupCACA||||||INFO_REALIGN_3_PRIME,TACAC|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_001288607.1|protein_coding|9/19|c.1440+81_1440+84dupCACA||||||INFO_REALIGN_3_PRIME,TACAC|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_019032.5|protein_coding|8/18|c.1371+81_1371+84dupCACA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3451;p3_1000G_AF=0.689097;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=26348;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.6292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150528118;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7873;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:450,30,0
chr1	150556846	rs34379037	T	TAA	466.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=0.859;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34379037;dbSNPBuildID=126;ANN=TAA|downstream_gene_variant|MODIFIER|MIR4257|MIR4257|transcript|NR_036211.1|pseudogene||n.*4832_*4833insAA|||||4833|,TAA|downstream_gene_variant|MODIFIER|ADAMTSL4-AS1|ADAMTSL4-AS1|transcript|NR_104133.1|pseudogene||n.*4048_*4049insTT|||||4048|,TAA|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_001288608.1|protein_coding|11/19|c.1818+53_1818+54insAA||||||,TAA|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_025008.4|protein_coding|10/14|c.1749+53_1749+54insAA||||||,TAA|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_001288607.1|protein_coding|11/19|c.1818+53_1818+54insAA||||||,TAA|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_019032.5|protein_coding|10/18|c.1749+53_1749+54insAA||||||;p3_1000G_AC=4737;p3_1000G_AF=0.945887;p3_1000G_AFR_AF=0.8759;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=14524;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150529322;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:36:504,36,0
chr1	150558532	rs10888382;261076	T	C	869.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888382;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_001288608.1|protein_coding|16/20|c.2511T>C|p.Asn837Asn|2800/4323|2511/3294|837/1097||,C|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_025008.4|protein_coding|15/15|c.2442T>C|p.Asn814Asn|2731/2947|2442/2634|814/877||,C|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_001288607.1|protein_coding|16/20|c.2325T>C|p.Asn775Asn|2614/4137|2325/3108|775/1035||,C|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_019032.5|protein_coding|15/19|c.2442T>C|p.Asn814Asn|2731/4254|2442/3225|814/1074||,C|downstream_gene_variant|MODIFIER|ADAMTSL4-AS1|ADAMTSL4-AS1|transcript|NR_104133.1|pseudogene||n.*2363A>G|||||2363|;p3_1000G_AA=T|||;p3_1000G_AC=4079;p3_1000G_AF=0.814497;p3_1000G_AFR_AF=0.6475;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=16071;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.9314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150531008;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3094,1312;ESP6500_AA_AGE=695.7+/-406.0;ESP6500_AA_GTC=1099,896,208;ESP6500_CDS_SIZES=NM_025008.3:2634,NM_019032.4:3225;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=8189,411;ESP6500_EA_AGE=800.0+/-407.4;ESP6500_EA_GTC=3899,391,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025008.3:coding-synonymous,NM_019032.4:coding-synonymous;ESP6500_GL=ADAMTSL4;ESP6500_GRCh38_POSITION=1:150558532;ESP6500_GTC=4998,1287,218;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_025008.3:c.2442T>C,NM_019032.4:c.2442T>C;ESP6500_HGVS_PROTEIN_VAR=NM_025008.3:p.(N814),NM_019032.4:p.(N814);ESP6500_MAF=4.7791,29.7776,13.2477;ESP6500_TAC=11283,1723;CLINVAR_ALLELEID=249390;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C1644196,OMIM:225200,SNOMED_CT:419237004|MedGen:CN169374;CLINVAR_CLNDN=Ectopia_lentis|Ectopia_lentis_et_pupillae|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.150558532T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2313;CLINVAR_GENEINFO=ADAMTSL4:54507;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10888382	GT:AD:DP:GQ:PL	1/1:0,27:27:81:898,81,0
chr1	150558574	rs10749657;261077	G	A	1039.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10749657;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_001288608.1|protein_coding|16/20|c.2553G>A|p.Pro851Pro|2842/4323|2553/3294|851/1097||,A|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_025008.4|protein_coding|15/15|c.2484G>A|p.Pro828Pro|2773/2947|2484/2634|828/877||,A|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_001288607.1|protein_coding|16/20|c.2367G>A|p.Pro789Pro|2656/4137|2367/3108|789/1035||,A|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_019032.5|protein_coding|15/19|c.2484G>A|p.Pro828Pro|2773/4254|2484/3225|828/1074||,A|downstream_gene_variant|MODIFIER|ADAMTSL4-AS1|ADAMTSL4-AS1|transcript|NR_104133.1|pseudogene||n.*2321C>T|||||2321|;p3_1000G_AA=G|||;p3_1000G_AC=4399;p3_1000G_AF=0.878395;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=15486;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150531050;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3697,709;ESP6500_AA_AGE=759.5+/-412.9;ESP6500_AA_GTC=1553,591,59;ESP6500_CDS_SIZES=NM_025008.3:2634,NM_019032.4:3225;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=60;ESP6500_EA_AC=7274,1326;ESP6500_EA_AGE=756.1+/-407.5;ESP6500_EA_GTC=3096,1082,122;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025008.3:coding-synonymous,NM_019032.4:coding-synonymous;ESP6500_GL=ADAMTSL4;ESP6500_GRCh38_POSITION=1:150558574;ESP6500_GTC=4649,1673,181;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025008.3:c.2484G>A,NM_019032.4:c.2484G>A;ESP6500_HGVS_PROTEIN_VAR=NM_025008.3:p.(P828),NM_019032.4:p.(P828);ESP6500_MAF=15.4186,16.0917,15.6466;ESP6500_TAC=10971,2035;CLINVAR_ALLELEID=249391;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C1644196,OMIM:225200,SNOMED_CT:419237004|MedGen:CN169374;CLINVAR_CLNDN=Ectopia_lentis|Ectopia_lentis_et_pupillae|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.150558574G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:250201;CLINVAR_GENEINFO=ADAMTSL4:54507;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10749657	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1068,105,0
chr1	150558694	rs10749658;517011	C	T	1167.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.16;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10749658;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ADAMTSL4|ADAMTSL4|transcript|NM_025008.4|protein_coding|15/15|c.2604C>T|p.His868His|2893/2947|2604/2634|868/877||,T|downstream_gene_variant|MODIFIER|ADAMTSL4-AS1|ADAMTSL4-AS1|transcript|NR_104133.1|pseudogene||n.*2201G>A|||||2201|,T|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_001288608.1|protein_coding|16/19|c.2628+45C>T||||||,T|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_001288607.1|protein_coding|16/19|c.2442+45C>T||||||,T|intron_variant|MODIFIER|ADAMTSL4|ADAMTSL4|transcript|NM_019032.5|protein_coding|15/18|c.2559+45C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17756;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150531170;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3319,1087;ESP6500_AA_AGE=391.4+/-328.1;ESP6500_AA_GTC=1250,819,134;ESP6500_CDS_SIZES=NM_025008.3:2634,NM_019032.4:3225;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=8594,6;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4294,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025008.3:coding-synonymous,NM_019032.4:intron;ESP6500_GL=ADAMTSL4;ESP6500_GRCh38_POSITION=1:150558694;ESP6500_GTC=5544,825,134;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025008.3:c.2604C>T,NM_019032.4:c.2559+45C>T;ESP6500_HGVS_PROTEIN_VAR=NM_025008.3:p.(H868),.;ESP6500_MAF=0.0698,24.6709,8.4038;ESP6500_TAC=11913,1093;CLINVAR_ALLELEID=498023;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.150558694C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ADAMTSL4:54507;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10749658	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1196,128,0
chr1	150577543	rs11428742;rs397981521	T	TA	559.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=2.049;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11428742;dbSNPBuildID=130,138;ANN=TA|upstream_gene_variant|MODIFIER|ADAMTSL4-AS1|ADAMTSL4-AS1|transcript|NR_104133.1|pseudogene||n.-2992dupT|||||2992|,TA|intron_variant|MODIFIER|MCL1|MCL1|transcript|NM_021960.4|protein_coding|2/2|c.937-53dupT||||||,TA|intron_variant|MODIFIER|MCL1|MCL1|transcript|NM_001197320.1|protein_coding|3/3|c.478-53dupT||||||,TA|intron_variant|MODIFIER|MCL1|MCL1|transcript|NM_182763.2|protein_coding|1/1|c.689-53dupT||||||;p3_1000G_AA=AA|A|AA|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18867;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150550019;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,16:16:48:597,48,0
chr1	150694321	rs7412396	G	A	429.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7412396;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|HORMAD1|HORMAD1|transcript|NM_032132.4|protein_coding||c.*4333C>T|||||3738|,A|downstream_gene_variant|MODIFIER|HORMAD1|HORMAD1|transcript|NM_001199829.1|protein_coding||c.*4333C>T|||||3738|,A|intron_variant|MODIFIER|GOLPH3L|GOLPH3L|transcript|NM_018178.5|protein_coding|2/4|c.183+335C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2048;p3_1000G_AF=0.408946;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=16105;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150666797;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:458,39,0
chr1	150698767	rs139837908	AC	A	124.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs139837908;dbSNPBuildID=134;ANN=A|upstream_gene_variant|MODIFIER|GOLPH3L|GOLPH3L|transcript|NM_018178.5|protein_coding||c.-3930delG|||||1572|,A|intron_variant|MODIFIER|HORMAD1|HORMAD1|transcript|NM_032132.4|protein_coding|14/14|c.1105-34delG||||||,A|intron_variant|MODIFIER|HORMAD1|HORMAD1|transcript|NM_001199829.1|protein_coding|13/13|c.1084-34delG||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=2048;p3_1000G_AF=0.408946;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=15721;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150671243;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=INDEL;ESP6500_AA_AC=1332,2932;ESP6500_AA_GTC=213,906,1013;ESP6500_CDS_SIZES=NM_032132.4:1185,NM_001199829.1:1164;ESP6500_CG=-2.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=46;ESP6500_EA_AC=3326,4926;ESP6500_EA_GTC=677,1972,1477;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032132.4:intron,NM_001199829.1:intron;ESP6500_GL=HORMAD1;ESP6500_GRCh38_POSITION=1:150698767;ESP6500_GTC=890,2878,2490;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_032132.4:c.1105-34del1,NM_001199829.1:c.1084-34del1;ESP6500_MAF=40.3054,31.2383,37.2164;ESP6500_TAC=4658,7858	GT:AD:DP:GQ:PL	1/1:0,4:4:12:161,12,0
chr1	150706557	rs1336900	G	A	953.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.9;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1336900;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|HORMAD1|HORMAD1|transcript|NM_032132.4|protein_coding|10/15|c.800C>T|p.Thr267Ile|918/1898|800/1185|267/394||,A|missense_variant|MODERATE|HORMAD1|HORMAD1|transcript|NM_001199829.1|protein_coding|9/14|c.779C>T|p.Thr260Ile|897/1877|779/1164|260/387||;p3_1000G_AA=G|||;p3_1000G_AC=1931;p3_1000G_AF=0.385583;p3_1000G_AFR_AF=0.2269;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=18017;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.4095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150679033;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1157,3249;ESP6500_AA_AGE=406.6+/-333.9;ESP6500_AA_GTC=156,845,1202;ESP6500_CDS_SIZES=NM_032132.4:1185,NM_001199829.1:1164;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=127;ESP6500_EA_AC=3356,5242;ESP6500_EA_AGE=496.4+/-374.3;ESP6500_EA_GTC=655,2046,1598;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032132.4:missense,NM_001199829.1:missense;ESP6500_GL=HORMAD1;ESP6500_GRCh38_POSITION=1:150706557;ESP6500_GS=89,89;ESP6500_GTC=811,2891,2800;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032132.4:c.800C>T,NM_001199829.1:c.779C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032132.4:p.(T267I),NM_001199829.1:p.(T260I);ESP6500_MAF=39.0323,26.2596,34.7047;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=4513,8491	GT:AD:DP:GQ:PL	1/1:0,33:33:99:982,99,0
chr1	150706882	rs11586422	C	T	141.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.64;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11586422;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|HORMAD1|HORMAD1|transcript|NM_032132.4|protein_coding|9/14|c.548-73G>A||||||,T|intron_variant|MODIFIER|HORMAD1|HORMAD1|transcript|NM_001199829.1|protein_coding|8/13|c.527-73G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2049;p3_1000G_AF=0.409145;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=16006;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150679358;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:170,18,0
chr1	150708512	rs3768005	A	T	77.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3768005;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|HORMAD1|HORMAD1|transcript|NM_032132.4|protein_coding|8/14|c.396-105T>A||||||,T|intron_variant|MODIFIER|HORMAD1|HORMAD1|transcript|NM_001199829.1|protein_coding|7/13|c.375-105T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1936;p3_1000G_AF=0.386581;p3_1000G_AFR_AF=0.23;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=14566;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150680988;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:105,9,0
chr1	150714123	rs199847530	TA	T	441.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.756;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.709;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.131;SOR=1.23;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs199847530;dbSNPBuildID=137;ANN=T|splice_region_variant&intron_variant|LOW|HORMAD1|HORMAD1|transcript|NM_032132.4|protein_coding|4/14|c.243-3delT||||||,T|splice_region_variant&intron_variant|LOW|HORMAD1|HORMAD1|transcript|NM_001199829.1|protein_coding|4/13|c.243-3delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=71;p3_1000G_AF=0.0141773;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17975;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150686599;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=INDEL;ESP6500_AA_AC=42,4180;ESP6500_AA_GTC=1,40,2070;ESP6500_CDS_SIZES=NM_032132.4:1185,NM_001199829.1:1164;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DP=51;ESP6500_EA_AC=58,8114;ESP6500_EA_GTC=1,56,4029;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032132.4:intron,NM_001199829.1:intron;ESP6500_GL=HORMAD1;ESP6500_GRCh38_POSITION=1:150714123;ESP6500_GTC=2,96,6099;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_032132.4:c.243-3del1,NM_001199829.1:c.243-3del1;ESP6500_MAF=0.7097,0.9948,0.8068;ESP6500_TAC=100,12294	GT:AD:DP:GQ:PL	0/1:20,21:41:99:479,0,442
chr1	150755063	rs2230061	G	A	3024.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.65;SOR=0.773;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2230061;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|CTSS|CTSS|transcript|NM_004079.4|protein_coding|4/8|c.337C>T|p.Arg113Trp|598/4107|337/996|113/331||,A|intron_variant|MODIFIER|CTSS|CTSS|transcript|NM_001199739.1|protein_coding|3/6|c.249+2795C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1915;p3_1000G_AF=0.382388;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=20296;p3_1000G_EAS_AF=0.3532;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150727539;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1229,3177;ESP6500_AA_AGE=426.4+/-341.1;ESP6500_AA_GTC=167,895,1141;ESP6500_CDS_SIZES=NM_004079.4:996,NM_001199739.1:846;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=209;ESP6500_EA_AC=3052,5548;ESP6500_EA_AGE=470.0+/-367.7;ESP6500_EA_GTC=551,1950,1799;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004079.4:missense,NM_001199739.1:intron;ESP6500_GL=CTSS;ESP6500_GRCh38_POSITION=1:150755063;ESP6500_GS=101,.;ESP6500_GTC=718,2845,2940;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004079.4:c.337C>T,NM_001199739.1:c.249+2795C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004079.4:p.(R113W),.;ESP6500_MAF=35.4884,27.8938,32.9156;ESP6500_PH=possibly-damaging:0.904,.;ESP6500_TAC=4281,8725	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3053,306,0
chr1	150757803	rs2275235	A	G	946.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275235;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CTSS|CTSS|transcript|NM_004079.4|protein_coding|3/7|c.249+55T>C||||||,G|intron_variant|MODIFIER|CTSS|CTSS|transcript|NM_001199739.1|protein_coding|3/6|c.249+55T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1970;p3_1000G_AF=0.393371;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=18947;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150730279;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:975,87,0
chr1	150758053	rs371205604	A	AT	13.91	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.366;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=-0.566;SOR=0.368;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=AT|intron_variant|MODIFIER|CTSS|CTSS|transcript|NM_004079.4|protein_coding|2/7|c.127-74dupA||||||,AT|intron_variant|MODIFIER|CTSS|CTSS|transcript|NM_001199739.1|protein_coding|2/6|c.127-74dupA||||||	GT:AD:DP:GQ:PL	0/1:5,3:8:51:51,0,90
chr1	150799227	rs10788796	T	C	1750.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=1.316;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10788796;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|CTSK|CTSK|transcript|NM_000396.3|protein_coding|7/8|c.831A>G|p.Ala277Ala|1060/1810|831/990|277/329||;p3_1000G_AA=C|||;p3_1000G_AC=4824;p3_1000G_AF=0.963259;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=21075;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150771703;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4130,276;ESP6500_AA_AGE=152.9+/-186.6;ESP6500_AA_GTC=1937,256,10;ESP6500_CDS_SIZES=NM_000396.3:990;ESP6500_CG=-12.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=169;ESP6500_EA_AC=8588,12;ESP6500_EA_AGE=8.4+/-32.0;ESP6500_EA_GTC=4288,12,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000396.3:coding-synonymous;ESP6500_GL=CTSK;ESP6500_GRCh38_POSITION=1:150799227;ESP6500_GTC=6225,268,10;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000396.3:c.831A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000396.3:p.(A277);ESP6500_MAF=0.1395,6.2642,2.2144;ESP6500_TAC=12718,288	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1779,177,0
chr1	150807279	rs6587522	C	T	730.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587522;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|ARNT|ARNT|transcript|NM_001668.3|protein_coding||c.*4742G>A|||||2426|,T|downstream_gene_variant|MODIFIER|ARNT|ARNT|transcript|NM_001197325.1|protein_coding||c.*4742G>A|||||2426|,T|downstream_gene_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286035.1|protein_coding||c.*4742G>A|||||2426|,T|downstream_gene_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286036.1|protein_coding||c.*4742G>A|||||2426|,T|downstream_gene_variant|MODIFIER|ARNT|ARNT|transcript|NM_178427.2|protein_coding||c.*4742G>A|||||2426|,T|intron_variant|MODIFIER|CTSK|CTSK|transcript|NM_000396.3|protein_coding|1/7|c.-1-473G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4920;p3_1000G_AF=0.982428;p3_1000G_AFR_AF=0.9387;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=19074;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150779755;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:759,75,0
chr1	150817485	rs3894771	A	T	59.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3894771;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001668.3|protein_coding|15/21|c.1506-52T>A||||||,T|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001197325.1|protein_coding|14/20|c.1461-52T>A||||||,T|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286035.1|protein_coding|16/22|c.1464-52T>A||||||,T|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286036.1|protein_coding|15/21|c.1506-52T>A||||||,T|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_178427.2|protein_coding|14/20|c.1461-52T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2574;p3_1000G_AF=0.513978;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=15703;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.4264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150789961;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1887,767;ESP6500_AA_GTC=732,423,172;ESP6500_CDS_SIZES=NM_178427.2:2325,NM_001668.3:2370,NM_001197325.1:2322;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=27;ESP6500_EA_AC=1969,2647;ESP6500_EA_GTC=519,931,858;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178427.2:intron,NM_001668.3:intron,NM_001197325.1:intron;ESP6500_GL=ARNT;ESP6500_GRCh38_POSITION=1:150817485;ESP6500_GTC=1251,1354,1030;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_178427.2:c.1461-52T>A,NM_001668.3:c.1506-52T>A,NM_001197325.1:c.1461-52T>A;ESP6500_MAF=42.656,28.8998,46.9601;ESP6500_TAC=3856,3414	GT:AD:DP:GQ:PL	1/1:0,3:3:9:87,9,0
chr1	150831953	rs10305704	A	C	154.18	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.792;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=5.441;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=22.03;ReadPosRankSum=0;SOR=2.225;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10305704;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001668.3|protein_coding|9/21|c.870-50T>G||||||,C|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001197325.1|protein_coding|8/20|c.825-50T>G||||||,C|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286035.1|protein_coding|10/22|c.843-50T>G||||||,C|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286036.1|protein_coding|9/21|c.870-50T>G||||||,C|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_178427.2|protein_coding|8/20|c.825-50T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1968;p3_1000G_AF=0.392971;p3_1000G_AFR_AF=0.2557;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=17103;p3_1000G_EAS_AF=0.4008;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150804429;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1222,3182;ESP6500_AA_GTC=172,878,1152;ESP6500_CDS_SIZES=NM_178427.2:2325,NM_001668.3:2370,NM_001197325.1:2322;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=18;ESP6500_EA_AC=3033,5567;ESP6500_EA_GTC=551,1931,1818;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178427.2:intron,NM_001668.3:intron,NM_001197325.1:intron;ESP6500_GL=ARNT;ESP6500_GRCh38_POSITION=1:150831953;ESP6500_GTC=723,2809,2970;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_178427.2:c.825-50T>G,NM_001668.3:c.870-50T>G,NM_001197325.1:c.825-50T>G;ESP6500_MAF=35.2674,27.7475,32.7207;ESP6500_TAC=4255,8749	GT:AD:DP:GQ:PL	1/1:1,6:7:10:182,10,0
chr1	150836413	rs2228099	C	G	1232.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228099;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|ARNT|ARNT|transcript|NM_001668.3|protein_coding|7/22|c.567G>C|p.Val189Val|768/4887|567/2370|189/789||,G|synonymous_variant|LOW|ARNT|ARNT|transcript|NM_001197325.1|protein_coding|6/21|c.522G>C|p.Val174Val|723/4839|522/2322|174/773||,G|synonymous_variant|LOW|ARNT|ARNT|transcript|NM_001286035.1|protein_coding|8/23|c.540G>C|p.Val180Val|824/4928|540/2328|180/775||,G|synonymous_variant|LOW|ARNT|ARNT|transcript|NM_001286036.1|protein_coding|7/22|c.567G>C|p.Val189Val|768/4881|567/2364|189/787||,G|synonymous_variant|LOW|ARNT|ARNT|transcript|NM_178427.2|protein_coding|6/21|c.522G>C|p.Val174Val|723/4842|522/2325|174/774||;p3_1000G_AA=G|||;p3_1000G_AC=2359;p3_1000G_AF=0.471046;p3_1000G_AFR_AF=0.5174;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=16795;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.3926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150808889;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2239,2167;ESP6500_AA_AGE=583.2+/-385.8;ESP6500_AA_GTC=564,1111,528;ESP6500_CDS_SIZES=NM_178427.2:2325,NM_001668.3:2370,NM_001197325.1:2322;ESP6500_CG=1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=91;ESP6500_EA_AC=3164,5436;ESP6500_EA_AGE=654.2+/-401.1;ESP6500_EA_GTC=597,1970,1733;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178427.2:coding-synonymous,NM_001668.3:coding-synonymous,NM_001197325.1:coding-synonymous;ESP6500_GL=ARNT;ESP6500_GRCh38_POSITION=1:150836413;ESP6500_GTC=1161,3081,2261;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_178427.2:c.522G>C,NM_001668.3:c.567G>C,NM_001197325.1:c.522G>C;ESP6500_HGVS_PROTEIN_VAR=NM_178427.2:p.(V174),NM_001668.3:p.(V189),NM_001197325.1:p.(V174);ESP6500_MAF=36.7907,49.1829,41.5424;ESP6500_TAC=5403,7603	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:150836413_C_G:1261,120,0
chr1	150853154	rs10305672	G	A	298.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10305672;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001668.3|protein_coding|2/21|c.138-348C>T||||||,A|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001197325.1|protein_coding|2/20|c.138-348C>T||||||,A|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286035.1|protein_coding|3/22|c.111-348C>T||||||,A|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286036.1|protein_coding|2/21|c.138-348C>T||||||,A|intron_variant|MODIFIER|ARNT|ARNT|transcript|NM_178427.2|protein_coding|2/20|c.138-348C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1915;p3_1000G_AF=0.382388;p3_1000G_AFR_AF=0.2179;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=16225;p3_1000G_EAS_AF=0.4008;p3_1000G_EUR_AF=0.3728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150825630;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:327,27,0
chr1	150876595	rs34415707;rs777343324;rs780902191	AC	A	426.37	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.899;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=20.3;ReadPosRankSum=1.26;SOR=0.793;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34415707;dbSNPBuildID=144,144,137;ANN=A|5_prime_UTR_variant|MODIFIER|ARNT|ARNT|transcript|NM_001668.3|protein_coding|1/22|c.-29delG|||||29|,A|5_prime_UTR_variant|MODIFIER|ARNT|ARNT|transcript|NM_001197325.1|protein_coding|1/21|c.-29delG|||||29|,A|5_prime_UTR_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286035.1|protein_coding|1/23|c.-112delG|||||18138|,A|5_prime_UTR_variant|MODIFIER|ARNT|ARNT|transcript|NM_001286036.1|protein_coding|1/22|c.-29delG|||||29|,A|5_prime_UTR_variant|MODIFIER|ARNT|ARNT|transcript|NM_178427.2|protein_coding|1/21|c.-29delG|||||29|	GT:AD:DP:GQ:PL	1/1:2,19:21:8:463,8,0
chr1	150951298	rs2124952	T	A	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.76;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.203;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2124952;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_001145415.1|protein_coding|13/21|c.2214-67T>A||||||,A|intron_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_012432.3|protein_coding|13/21|c.2214-67T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2031;p3_1000G_AF=0.405551;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=20563;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150923774;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:244,0,251
chr1	150966095	rs8444	G	A	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.76;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-1.352;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8444;dbSNPBuildID=52;ANN=A|3_prime_UTR_variant|MODIFIER|CERS2|CERS2|transcript|NM_022075.4|protein_coding|11/11|c.*53C>T|||||53|,A|3_prime_UTR_variant|MODIFIER|CERS2|CERS2|transcript|NM_181746.3|protein_coding|11/11|c.*53C>T|||||53|,A|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_001145415.1|protein_coding||c.*1731G>A|||||1351|,A|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_012432.3|protein_coding||c.*1731G>A|||||1351|;p3_1000G_AA=G|||;p3_1000G_AC=2024;p3_1000G_AF=0.404153;p3_1000G_AFR_AF=0.2693;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=20160;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.3668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150938571;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,10:16:99:271,0,124
chr1	150966140	rs267739	G	A	934.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.21;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs267739;dbSNPBuildID=79;ANN=A|3_prime_UTR_variant|MODIFIER|CERS2|CERS2|transcript|NM_022075.4|protein_coding|11/11|c.*8C>T|||||8|,A|3_prime_UTR_variant|MODIFIER|CERS2|CERS2|transcript|NM_181746.3|protein_coding|11/11|c.*8C>T|||||8|,A|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_001145415.1|protein_coding||c.*1776G>A|||||1396|,A|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_012432.3|protein_coding||c.*1776G>A|||||1396|;p3_1000G_AA=A|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=19467;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150938616;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4142,264;ESP6500_AA_AGE=148.8+/-183.1;ESP6500_AA_GTC=1943,256,4;ESP6500_CDS_SIZES=NM_181746.3:1143,NM_022075.4:1143;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=137;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181746.3:utr-3,NM_022075.4:utr-3;ESP6500_GL=CERS2;ESP6500_GRCh38_POSITION=1:150966140;ESP6500_GTC=6243,256,4;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181746.3:c.*8C>T,NM_022075.4:c.*8C>T;ESP6500_MAF=0.0,5.9918,2.0298;ESP6500_TAC=12742,264	GT:AD:DP:GQ:PL	1/1:0,32:32:96:963,96,0
chr1	150966654	rs200320905	C	A	906.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.81;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=2.986;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.328;SOR=1.094;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200320905;dbSNPBuildID=137;ANN=A|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_001145415.1|protein_coding||c.*2290C>A|||||1910|,A|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_012432.3|protein_coding||c.*2290C>A|||||1910|,A|intron_variant|MODIFIER|CERS2|CERS2|transcript|NM_022075.4|protein_coding|9/10|c.849-25G>T||||||,A|intron_variant|MODIFIER|CERS2|CERS2|transcript|NM_181746.3|protein_coding|9/10|c.849-25G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19613;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150939130;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:57,33:90:99:935,0,1532
chr1	150967268	rs11204750	C	A	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.701;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.141;SOR=1.041;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11204750;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_001145415.1|protein_coding||c.*2904C>A|||||2524|,A|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_012432.3|protein_coding||c.*2904C>A|||||2524|,A|intron_variant|MODIFIER|CERS2|CERS2|transcript|NM_022075.4|protein_coding|7/10|c.613-66G>T||||||,A|intron_variant|MODIFIER|CERS2|CERS2|transcript|NM_181746.3|protein_coding|7/10|c.613-66G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1959;p3_1000G_AF=0.391174;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=18473;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150939744;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,15:30:99:401,0,526
chr1	150967881	rs6656535	G	T	912.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.076;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.85;ReadPosRankSum=0.237;SOR=0.485;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6656535;dbSNPBuildID=116;ANN=T|splice_region_variant&intron_variant|LOW|CERS2|CERS2|transcript|NM_022075.4|protein_coding|4/10|c.411-4C>A||||||,T|splice_region_variant&intron_variant|LOW|CERS2|CERS2|transcript|NM_181746.3|protein_coding|4/10|c.411-4C>A||||||,T|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_001145415.1|protein_coding||c.*3517G>T|||||3137|,T|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_012432.3|protein_coding||c.*3517G>T|||||3137|;p3_1000G_AA=G|||;p3_1000G_AC=1959;p3_1000G_AF=0.391174;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=19493;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150940357;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1083,3323;ESP6500_AA_AGE=394.4+/-329.3;ESP6500_AA_GTC=131,821,1251;ESP6500_CDS_SIZES=NM_181746.3:1143,NM_022075.4:1143;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=107;ESP6500_EA_AC=3032,5568;ESP6500_EA_AGE=467.1+/-367.0;ESP6500_EA_GTC=538,1956,1806;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181746.3:intron,NM_022075.4:intron;ESP6500_GL=CERS2;ESP6500_GRCh38_POSITION=1:150967881;ESP6500_GTC=669,2777,3057;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_181746.3:c.411-4C>A,NM_022075.4:c.411-4C>A;ESP6500_MAF=35.2558,24.5801,31.6392;ESP6500_TAC=4115,8891	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,23:34:99:0|1:150967881_G_T:941,0,623
chr1	150967882	rs6681742;rs59988025	C	T	912.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.2;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.493;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.08;ReadPosRankSum=0.102;SOR=0.409;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59988025;dbSNPBuildID=116;ANN=T|splice_region_variant&intron_variant|LOW|CERS2|CERS2|transcript|NM_022075.4|protein_coding|4/10|c.411-5G>A||||||,T|splice_region_variant&intron_variant|LOW|CERS2|CERS2|transcript|NM_181746.3|protein_coding|4/10|c.411-5G>A||||||,T|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_001145415.1|protein_coding||c.*3518C>T|||||3138|,T|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_012432.3|protein_coding||c.*3518C>T|||||3138|;p3_1000G_AA=C|||;p3_1000G_AC=1959;p3_1000G_AF=0.391174;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=19750;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150940358;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1083,3323;ESP6500_AA_AGE=394.4+/-329.3;ESP6500_AA_GTC=131,821,1251;ESP6500_CDS_SIZES=NM_181746.3:1143,NM_022075.4:1143;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=104;ESP6500_EA_AC=3032,5568;ESP6500_EA_AGE=467.5+/-367.1;ESP6500_EA_GTC=538,1956,1806;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181746.3:intron,NM_022075.4:intron;ESP6500_GL=CERS2;ESP6500_GRCh38_POSITION=1:150967882;ESP6500_GTC=669,2777,3057;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181746.3:c.411-5G>A,NM_022075.4:c.411-5G>A;ESP6500_MAF=35.2558,24.5801,31.6392;ESP6500_TAC=4115,8891	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,24:35:99:0|1:150967881_G_T:941,0,623
chr1	150968905	rs752376	C	T	504.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.433;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.089;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.999;SOR=1.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs752376;dbSNPBuildID=86;ANN=T|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_001145415.1|protein_coding||c.*4541C>T|||||4161|,T|downstream_gene_variant|MODIFIER|SETDB1|SETDB1|transcript|NM_012432.3|protein_coding||c.*4541C>T|||||4161|,T|intron_variant|MODIFIER|CERS2|CERS2|transcript|NM_022075.4|protein_coding|2/10|c.173+13G>A||||||,T|intron_variant|MODIFIER|CERS2|CERS2|transcript|NM_181746.3|protein_coding|2/10|c.173+13G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2491;p3_1000G_AF=0.497404;p3_1000G_AFR_AF=0.5817;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=20159;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.3897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150941381;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5225;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2462,1944;ESP6500_AA_AGE=550.9+/-378.2;ESP6500_AA_GTC=698,1066,439;ESP6500_CDS_SIZES=NM_181746.3:1143,NM_022075.4:1143;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=114;ESP6500_EA_AC=3157,5443;ESP6500_EA_AGE=655.0+/-401.2;ESP6500_EA_GTC=586,1985,1729;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181746.3:intron,NM_022075.4:intron;ESP6500_GL=CERS2;ESP6500_GRCh38_POSITION=1:150968905;ESP6500_GTC=1284,3051,2168;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181746.3:c.173+13G>A,NM_022075.4:c.173+13G>A;ESP6500_MAF=36.7093,44.1217,43.2031;ESP6500_TAC=5619,7387	GT:AD:DP:GQ:PL	0/1:17,21:38:99:533,0,569
chr1	150986501	rs2305814	T	C	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.065;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=12.161;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=0;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305814;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ANXA9|ANXA9|transcript|NM_003568.2|protein_coding|8/13|c.552+86T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2759;p3_1000G_AF=0.550919;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=20187;p3_1000G_EAS_AF=0.5883;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150958977;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,18:24:99:502,0,150
chr1	150987874	rs7532008	A	C	572.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.81;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.03;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7532008;dbSNPBuildID=116;ANN=C|splice_region_variant&synonymous_variant|LOW|ANXA9|ANXA9|transcript|NM_003568.2|protein_coding|10/14|c.615A>C|p.Ala205Ala|1085/1824|615/1038|205/345||;p3_1000G_AA=A|||;p3_1000G_AC=2463;p3_1000G_AF=0.491813;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=18737;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150960350;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1982,2424;ESP6500_AA_AGE=556.3+/-379.5;ESP6500_AA_GTC=457,1068,678;ESP6500_CDS_SIZES=NM_003568.2:1038;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=67;ESP6500_EA_AC=2611,5989;ESP6500_EA_AGE=422.3+/-354.0;ESP6500_EA_GTC=424,1763,2113;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003568.2:coding-synonymous;ESP6500_GL=ANXA9;ESP6500_GRCh38_POSITION=1:150987874;ESP6500_GTC=881,2831,2791;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_003568.2:c.615A>C;ESP6500_HGVS_PROTEIN_VAR=NM_003568.2:p.(A205);ESP6500_MAF=30.3605,44.9841,35.3145;ESP6500_TAC=4593,8413	GT:AD:DP:GQ:PL	0/1:34,22:56:99:601,0,872
chr1	150997516	rs2925740	T	C	1727.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.9;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2925740;dbSNPBuildID=101;ANN=C|downstream_gene_variant|MODIFIER|ANXA9|ANXA9|transcript|NM_003568.2|protein_coding||c.*2194T>C|||||1878|,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163258.1|protein_coding|10/10|c.1473+108A>G||||||,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163259.1|protein_coding|9/9|c.1044+108A>G||||||,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163260.1|protein_coding|9/9|c.903+108A>G||||||,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001040217.2|protein_coding|9/9|c.903+108A>G||||||,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001319998.1|protein_coding|10/10|c.1329+108A>G||||||,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_018379.4|protein_coding|10/10|c.1329+108A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4459;p3_1000G_AF=0.890375;p3_1000G_AFR_AF=0.6641;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=17619;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150969992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1756,141,0
chr1	150998101	rs2925741	G	T	808.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2925741;dbSNPBuildID=101;ANN=T|missense_variant|MODERATE|FAM63A|FAM63A|transcript|NM_001163258.1|protein_coding|9/11|c.1298C>A|p.Thr433Lys|1521/2239|1298/1554|433/517||,T|missense_variant|MODERATE|FAM63A|FAM63A|transcript|NM_001163259.1|protein_coding|8/10|c.869C>A|p.Thr290Lys|1423/2141|869/1125|290/374||,T|missense_variant|MODERATE|FAM63A|FAM63A|transcript|NM_001163260.1|protein_coding|8/10|c.728C>A|p.Thr243Lys|1334/2052|728/984|243/327||,T|missense_variant|MODERATE|FAM63A|FAM63A|transcript|NM_001040217.2|protein_coding|8/10|c.728C>A|p.Thr243Lys|1458/2176|728/984|243/327||,T|missense_variant|MODERATE|FAM63A|FAM63A|transcript|NM_001319998.1|protein_coding|9/11|c.1154C>A|p.Thr385Lys|2838/3556|1154/1410|385/469||,T|missense_variant|MODERATE|FAM63A|FAM63A|transcript|NM_018379.4|protein_coding|9/11|c.1154C>A|p.Thr385Lys|2122/2840|1154/1410|385/469||,T|downstream_gene_variant|MODIFIER|ANXA9|ANXA9|transcript|NM_003568.2|protein_coding||c.*2779G>T|||||2463|;p3_1000G_AA=T|||;p3_1000G_AC=4724;p3_1000G_AF=0.943291;p3_1000G_AFR_AF=0.7943;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=20112;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150970577;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3662,744;ESP6500_AA_AGE=304.6+/-288.6;ESP6500_AA_GTC=1515,632,56;ESP6500_CDS_SIZES=NM_018379.4:1410,NM_001163260.1:984,NM_001163259.1:1125,NM_001163258.1:1554,NM_001040217.2:984;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=82;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018379.4:missense,NM_001163260.1:missense,NM_001163259.1:missense,NM_001163258.1:missense,NM_001040217.2:missense;ESP6500_GL=FAM63A;ESP6500_GRCh38_POSITION=1:150998101;ESP6500_GS=78,78,78,78,78;ESP6500_GTC=5810,637,56;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018379.4:c.1154C>A,NM_001163260.1:c.728C>A,NM_001163259.1:c.869C>A,NM_001163258.1:c.1298C>A,NM_001040217.2:c.728C>A;ESP6500_HGVS_PROTEIN_VAR=NM_018379.4:p.(T385K),NM_001163260.1:p.(T243K),NM_001163259.1:p.(T290K),NM_001163258.1:p.(T433K),NM_001040217.2:p.(T243K);ESP6500_MAF=0.0581,16.8861,5.7589;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12257,749	GT:AD:DP:GQ:PL	1/1:0,27:27:81:837,81,0
chr1	150998360	rs1673160	T	A	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.099;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.495;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1673160;dbSNPBuildID=89;ANN=A|downstream_gene_variant|MODIFIER|ANXA9|ANXA9|transcript|NM_003568.2|protein_coding||c.*3038T>A|||||2722|,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163258.1|protein_coding|8/10|c.1126-87A>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163259.1|protein_coding|7/9|c.697-87A>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163260.1|protein_coding|7/9|c.556-87A>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001040217.2|protein_coding|7/9|c.556-87A>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001319998.1|protein_coding|8/10|c.982-87A>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_018379.4|protein_coding|8/10|c.982-87A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1884;p3_1000G_AF=0.376198;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=20541;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.5696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150970836;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:213,0,272
chr1	151000062	rs708909	G	A	318.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs708909;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|ANXA9|ANXA9|transcript|NM_003568.2|protein_coding||c.*4740G>A|||||4424|,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163258.1|protein_coding|6/10|c.880-98C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163259.1|protein_coding|5/9|c.451-98C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163260.1|protein_coding|5/9|c.310-98C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001040217.2|protein_coding|5/9|c.310-98C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001319998.1|protein_coding|6/10|c.736-98C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_018379.4|protein_coding|6/10|c.736-98C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4791;p3_1000G_AF=0.956669;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=17914;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150972538;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:347,30,0
chr1	151001686	rs771204	G	A	847.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs771204;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163258.1|protein_coding|4/10|c.655+39C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163259.1|protein_coding|3/9|c.226+39C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163260.1|protein_coding|3/9|c.85+39C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001040217.2|protein_coding|3/9|c.85+39C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001319998.1|protein_coding|4/10|c.511+39C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_018379.4|protein_coding|4/10|c.511+39C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4119;p3_1000G_AF=0.822484;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DP=17918;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.83;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150974162;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8834;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3328,1078;ESP6500_AA_AGE=389.1+/-327.2;ESP6500_AA_GTC=1249,830,124;ESP6500_CDS_SIZES=NM_018379.4:1410,NM_001163260.1:984,NM_001163259.1:1125,NM_001163258.1:1554,NM_001040217.2:984;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=46;ESP6500_EA_AC=7313,1287;ESP6500_EA_AGE=254.0+/-279.5;ESP6500_EA_GTC=3118,1077,105;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018379.4:intron,NM_001163260.1:intron,NM_001163259.1:intron,NM_001163258.1:intron,NM_001040217.2:intron;ESP6500_GL=FAM63A;ESP6500_GRCh38_POSITION=1:151001686;ESP6500_GTC=4367,1907,229;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018379.4:c.511+39C>T,NM_001163260.1:c.85+39C>T,NM_001163259.1:c.226+39C>T,NM_001163258.1:c.655+39C>T,NM_001040217.2:c.85+39C>T;ESP6500_MAF=14.9651,24.4666,18.1839;ESP6500_TAC=10641,2365	GT:AD:DP:GQ:PL	1/1:0,27:27:81:876,81,0
chr1	151001835	rs59942146	G	A	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.412;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.25;SOR=1.549;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59942146;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163258.1|protein_coding|3/10|c.598-53C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163259.1|protein_coding|2/9|c.169-53C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163260.1|protein_coding|2/9|c.28-53C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001040217.2|protein_coding|2/9|c.28-53C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001319998.1|protein_coding|3/10|c.454-53C>T||||||,A|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_018379.4|protein_coding|3/10|c.454-53C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=890;p3_1000G_AF=0.177716;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=18631;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150974311;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,13:28:99:336,0,367
chr1	151002632	rs771205	T	C	1957.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs771205;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|FAM63A|FAM63A|transcript|NM_001163258.1|protein_coding|3/11|c.130A>G|p.Lys44Glu|353/2239|130/1554|44/517||,C|5_prime_UTR_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001319998.1|protein_coding|3/11|c.-15A>G|||||15|,C|5_prime_UTR_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_018379.4|protein_coding|3/11|c.-15A>G|||||15|,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163259.1|protein_coding|1/9|c.-68-232A>G||||||,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001163260.1|protein_coding|1/9|c.-120-321A>G||||||,C|intron_variant|MODIFIER|FAM63A|FAM63A|transcript|NM_001040217.2|protein_coding|1/9|c.-132-309A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3801;p3_1000G_AF=0.758986;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=20179;p3_1000G_EAS_AF=0.8492;p3_1000G_EUR_AF=0.9692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150975108;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2004,2402;ESP6500_AA_GTC=458,1088,657;ESP6500_CDS_SIZES=NM_018379.4:1410,NM_001163260.1:984,NM_001163259.1:1125,NM_001163258.1:1554,NM_001040217.2:984;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=48;ESP6500_EA_AC=8427,173;ESP6500_EA_GTC=4129,169,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018379.4:utr-5,NM_001163260.1:intron,NM_001163259.1:intron,NM_001163258.1:missense,NM_001040217.2:intron;ESP6500_GL=FAM63A;ESP6500_GRCh38_POSITION=1:151002632;ESP6500_GS=.,.,.,56,.;ESP6500_GTC=4587,1257,659;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018379.4:c.-15A>G,NM_001163260.1:c.-441A>G,NM_001163259.1:c.-300A>G,NM_001163258.1:c.130A>G,NM_001040217.2:c.-441A>G;ESP6500_HGVS_PROTEIN_VAR=.,.,.,NM_001163258.1:p.(K44E),.;ESP6500_MAF=2.0116,45.4834,19.7986;ESP6500_TAC=10431,2575	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1986,186,0
chr1	151017990	rs397746267;rs71090118	C	CAT	328.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.023;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.29;ReadPosRankSum=1.29;SOR=0.593;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71090118;dbSNPBuildID=138,138;ANN=CAT|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_021222.2|protein_coding|2/7|c.132+87_132+88dupAT||||||INFO_REALIGN_3_PRIME,CAT|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303229.1|protein_coding|2/6|c.-212+87_-212+88dupAT||||||INFO_REALIGN_3_PRIME,CAT|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303242.1|protein_coding|2/6|c.132+87_132+88dupAT||||||INFO_REALIGN_3_PRIME,CAT|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303243.1|protein_coding|2/5|c.-128+87_-128+88dupAT||||||INFO_REALIGN_3_PRIME,CAT|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130130.1|pseudogene|1/3|n.282-7524_282-7523dupAT||||||INFO_REALIGN_3_PRIME,CAT|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130131.1|pseudogene|2/4|n.374+87_374+88dupAT||||||INFO_REALIGN_3_PRIME,CAT|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130132.1|pseudogene|2/3|n.374+87_374+88dupAT||||||INFO_REALIGN_3_PRIME,CAT|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130135.1|pseudogene|2/4|n.374+87_374+88dupAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2027;p3_1000G_AF=0.404752;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=16890;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150990466;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,9:13:99:366,0,142
chr1	151025464	rs3738478	T	C	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.84;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-1.126;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738478;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_021222.2|protein_coding|4/7|c.521-51T>C||||||,C|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303229.1|protein_coding|3/6|c.-26-51T>C||||||,C|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303242.1|protein_coding|4/6|c.521-51T>C||||||,C|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303243.1|protein_coding|3/5|c.77-1769T>C||||||,C|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130130.1|pseudogene|1/3|n.282-51T>C||||||,C|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130131.1|pseudogene|2/4|n.375-1769T>C||||||,C|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130132.1|pseudogene|2/3|n.375-1769T>C||||||,C|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130135.1|pseudogene|2/4|n.375-51T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2557;p3_1000G_AF=0.510583;p3_1000G_AFR_AF=0.4818;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=18550;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.6302;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150997940;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2250,2156;ESP6500_AA_AGE=581.0+/-385.3;ESP6500_AA_GTC=567,1116,520;ESP6500_CDS_SIZES=NM_021222.1:1362;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=58;ESP6500_EA_AC=5176,3424;ESP6500_EA_AGE=503.9+/-376.0;ESP6500_EA_GTC=1572,2032,696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021222.1:intron;ESP6500_GL=PRUNE;ESP6500_GRCh38_POSITION=1:151025464;ESP6500_GTC=2139,3148,1216;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021222.1:c.521-51T>C;ESP6500_MAF=39.814,48.9333,42.9033;ESP6500_TAC=7426,5580	GT:AD:DP:GQ:PL	0/1:17,8:25:99:222,0,479
chr1	151025745	rs397981531;rs55774303;rs587685427	AT	A	74.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.637;SOR=0.18;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs77437588,rs55774303;dbSNPBuildID=134,142,138;ANN=A|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_021222.2|protein_coding|5/7|c.679+85delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303229.1|protein_coding|4/6|c.133+85delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303242.1|protein_coding|5/6|c.679+85delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303243.1|protein_coding|3/5|c.77-1475delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130130.1|pseudogene|2/3|n.440+85delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130131.1|pseudogene|2/4|n.375-1475delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130132.1|pseudogene|2/3|n.375-1475delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130135.1|pseudogene|3/4|n.533+85delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,5:7:32:112,0,32
chr1	151027387	rs55717234	A	G	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-2.035;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55717234;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_021222.2|protein_coding|6/7|c.774+60A>G||||||,G|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303229.1|protein_coding|5/6|c.228+60A>G||||||,G|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303242.1|protein_coding|6/6|c.774+60A>G||||||,G|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NM_001303243.1|protein_coding|4/5|c.171+60A>G||||||,G|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130130.1|pseudogene|3/3|n.535+60A>G||||||,G|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130131.1|pseudogene|3/4|n.469+60A>G||||||,G|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130132.1|pseudogene|3/3|n.469+60A>G||||||,G|intron_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130135.1|pseudogene|4/4|n.628+60A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=2409;p3_1000G_AF=0.48103;p3_1000G_AFR_AF=0.4592;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=18208;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.5686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150999863;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,17:27:99:543,0,268
chr1	151034063	rs3738476	C	A	1355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.817;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=4.045;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.374;SOR=1.013;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738476;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|PRUNE1|PRUNE1|transcript|NM_021222.2|protein_coding|8/8|c.1191C>A|p.Gly397Gly|1433/3083|1191/1362|397/453||,A|synonymous_variant|LOW|PRUNE1|PRUNE1|transcript|NM_001303229.1|protein_coding|7/7|c.645C>A|p.Gly215Gly|1230/2880|645/816|215/271||,A|synonymous_variant|LOW|PRUNE1|PRUNE1|transcript|NM_001303242.1|protein_coding|7/7|c.1032C>A|p.Gly344Gly|1274/2924|1032/1203|344/400||,A|synonymous_variant|LOW|PRUNE1|PRUNE1|transcript|NM_001303243.1|protein_coding|6/6|c.588C>A|p.Gly196Gly|1089/2739|588/759|196/252||,A|upstream_gene_variant|MODIFIER|BNIPL|BNIPL|transcript|NM_138278.3|protein_coding||c.-2663C>A|||||2490|,A|upstream_gene_variant|MODIFIER|BNIPL|BNIPL|transcript|NM_001159642.1|protein_coding||c.-4777C>A|||||2490|,A|non_coding_transcript_exon_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130130.1|pseudogene|4/4|n.793C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130131.1|pseudogene|5/5|n.886C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130132.1|pseudogene|4/4|n.727C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|PRUNE1|PRUNE1|transcript|NR_130135.1|pseudogene|5/5|n.886C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2551;p3_1000G_AF=0.509385;p3_1000G_AFR_AF=0.4387;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=16584;p3_1000G_EAS_AF=0.5952;p3_1000G_EUR_AF=0.503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151006539;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3634,772;ESP6500_AA_AGE=310.8+/-291.8;ESP6500_AA_GTC=1503,628,72;ESP6500_CDS_SIZES=NM_021222.1:1362;ESP6500_CG=1.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=93;ESP6500_EA_AC=7480,1120;ESP6500_EA_AGE=232.1+/-265.8;ESP6500_EA_GTC=3236,1008,56;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021222.1:coding-synonymous;ESP6500_GL=PRUNE;ESP6500_GRCh38_POSITION=1:151034063;ESP6500_GTC=4739,1636,128;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_021222.1:c.1191C>A;ESP6500_HGVS_PROTEIN_VAR=NM_021222.1:p.(G397);ESP6500_MAF=13.0233,17.5216,14.5471;ESP6500_TAC=11114,1892	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1384,0,984
chr1	151046233	rs587775850	G	A	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-0.842;SOR=1.414;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|upstream_gene_variant|MODIFIER|C1orf56|C1orf56|transcript|NM_017860.3|protein_coding||c.-1615G>A|||||1550|,A|downstream_gene_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_001038707.1|protein_coding||c.*8014C>T|||||4738|,A|downstream_gene_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_020239.3|protein_coding||c.*8014C>T|||||4738|,A|intron_variant|MODIFIER|BNIPL|BNIPL|transcript|NM_138278.3|protein_coding|9/9|c.1037+68G>A||||||,A|intron_variant|MODIFIER|BNIPL|BNIPL|transcript|NM_001159642.1|protein_coding|9/9|c.791+68G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16398;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151018709;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:69:128,0,69
chr1	151046704	rs6587553	A	G	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.89;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.321;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6587553;dbSNPBuildID=116;ANN=G|3_prime_UTR_variant|MODIFIER|BNIPL|BNIPL|transcript|NM_138278.3|protein_coding|10/10|c.*17A>G|||||17|,G|3_prime_UTR_variant|MODIFIER|BNIPL|BNIPL|transcript|NM_001159642.1|protein_coding|10/10|c.*17A>G|||||17|,G|upstream_gene_variant|MODIFIER|C1orf56|C1orf56|transcript|NM_017860.3|protein_coding||c.-1144A>G|||||1079|,G|downstream_gene_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_001038707.1|protein_coding||c.*7543T>C|||||4267|,G|downstream_gene_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_020239.3|protein_coding||c.*7543T>C|||||4267|;p3_1000G_AA=G|||;p3_1000G_AC=4064;p3_1000G_AF=0.811502;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=19142;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.8111;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151019180;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3164,1242;ESP6500_AA_AGE=425.1+/-340.7;ESP6500_AA_GTC=1140,884,179;ESP6500_CDS_SIZES=NM_138278.3:1074,NM_001159642.1:828;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=112;ESP6500_EA_AC=6953,1647;ESP6500_EA_AGE=303.0+/-306.2;ESP6500_EA_GTC=2812,1329,159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138278.3:utr-3,NM_001159642.1:utr-3;ESP6500_GL=BNIPL;ESP6500_GRCh38_POSITION=1:151046704;ESP6500_GTC=3952,2213,338;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138278.3:c.*17A>G,NM_001159642.1:c.*17A>G;ESP6500_MAF=19.1512,28.1888,22.2128;ESP6500_TAC=10117,2889	GT:AD:DP:GQ:PL	0/1:26,20:46:99:567,0,597
chr1	151048492	rs587692515	G	A	548.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.507;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.479;SOR=0.946;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|synonymous_variant|LOW|C1orf56|C1orf56|transcript|NM_017860.3|protein_coding|1/2|c.645G>A|p.Ser215Ser|710/2028|645/1026|215/341||,A|downstream_gene_variant|MODIFIER|BNIPL|BNIPL|transcript|NM_138278.3|protein_coding||c.*1805G>A|||||892|,A|downstream_gene_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_001038707.1|protein_coding||c.*5755C>T|||||2479|,A|downstream_gene_variant|MODIFIER|BNIPL|BNIPL|transcript|NM_001159642.1|protein_coding||c.*1805G>A|||||892|,A|downstream_gene_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_020239.3|protein_coding||c.*5755C>T|||||2479|;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14419;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151020968;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,21:52:99:577,0,950
chr1	151054339	rs2902810	C	T	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.711;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.628;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-2.171;SOR=1.206;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2902810;dbSNPBuildID=101;ANN=T|downstream_gene_variant|MODIFIER|C1orf56|C1orf56|transcript|NM_017860.3|protein_coding||c.*3881C>T|||||2944|,T|intron_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_001038707.1|protein_coding|4/5|c.166-18G>A||||||,T|intron_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_020239.3|protein_coding|3/4|c.166-18G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4016;p3_1000G_AF=0.801917;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=20650;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.8062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151026815;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3084,1322;ESP6500_AA_AGE=443.1+/-346.9;ESP6500_AA_GTC=1081,922,200;ESP6500_CDS_SIZES=NM_020239.3:240,NM_001038707.1:240;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=151;ESP6500_EA_AC=6876,1724;ESP6500_EA_AGE=313.4+/-311.3;ESP6500_EA_GTC=2751,1374,175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020239.3:intron,NM_001038707.1:intron;ESP6500_GL=CDC42SE1;ESP6500_GRCh38_POSITION=1:151054339;ESP6500_GTC=3832,2296,375;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020239.3:c.166-18G>A,NM_001038707.1:c.166-18G>A;ESP6500_MAF=20.0465,30.0045,23.42;ESP6500_TAC=9960,3046	GT:AD:DP:GQ:PL	0/1:29,18:47:99:453,0,753
chr1	151055758	rs11204767	G	T	1466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=1.28;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11204767;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_001038707.1|protein_coding|3/6|c.-28C>A|||||28|,T|5_prime_UTR_variant|MODIFIER|CDC42SE1|CDC42SE1|transcript|NM_020239.3|protein_coding|2/5|c.-28C>A|||||28|,T|upstream_gene_variant|MODIFIER|MLLT11|MLLT11|transcript|NM_006818.3|protein_coding||c.-11467G>T|||||3917|,T|downstream_gene_variant|MODIFIER|C1orf56|C1orf56|transcript|NM_017860.3|protein_coding||c.*5300G>T|||||4363|;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19212;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151028234;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1495,135,0
chr1	151132122	rs4971005	A	G	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.022;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.61;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4971005;dbSNPBuildID=111;ANN=G|3_prime_UTR_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178061.1|protein_coding|20/20|c.*362T>C|||||362|,G|3_prime_UTR_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178062.1|protein_coding|19/19|c.*362T>C|||||362|,G|3_prime_UTR_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_030913.4|protein_coding|19/19|c.*362T>C|||||362|;p3_1000G_AA=G|||;p3_1000G_AC=3947;p3_1000G_AF=0.788139;p3_1000G_AFR_AF=0.6316;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=13341;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.8201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151104598;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:65:118,0,65
chr1	151132474	rs10788800	G	A	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.081;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=2.02;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10788800;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178061.1|protein_coding|20/20|c.*10C>T|||||10|,A|3_prime_UTR_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178062.1|protein_coding|19/19|c.*10C>T|||||10|,A|3_prime_UTR_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_030913.4|protein_coding|19/19|c.*10C>T|||||10|;p3_1000G_AA=G|||;p3_1000G_AC=3115;p3_1000G_AF=0.622005;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=9683;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.7237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151104950;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1315,1885;ESP6500_AA_GTC=316,683,601;ESP6500_CDS_SIZES=NM_030913.4:2793,NM_001178062.1:2769,NM_001178061.1:2889;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=3;ESP6500_EA_AC=4792,1648;ESP6500_EA_GTC=1860,1072,288;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030913.4:utr-3,NM_001178062.1:utr-3,NM_001178061.1:utr-3;ESP6500_GL=SEMA6C;ESP6500_GRCh38_POSITION=1:151132474;ESP6500_GTC=2176,1755,889;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_030913.4:c.*10C>T,NM_001178062.1:c.*10C>T,NM_001178061.1:c.*10C>T;ESP6500_MAF=25.5901,41.0938,36.6494;ESP6500_TAC=6107,3533	GT:AD:DP:GQ:PL	0/1:7,16:23:99:350,0,191
chr1	151133348	rs4971006	C	G	339.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.303;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=0.675;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4971006;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|SEMA6C|SEMA6C|transcript|NM_001178061.1|protein_coding|20/20|c.2025G>C|p.Pro675Pro|2361/4022|2025/2889|675/962||,G|synonymous_variant|LOW|SEMA6C|SEMA6C|transcript|NM_001178062.1|protein_coding|19/19|c.1905G>C|p.Pro635Pro|2241/3902|1905/2769|635/922||,G|synonymous_variant|LOW|SEMA6C|SEMA6C|transcript|NM_030913.4|protein_coding|19/19|c.1929G>C|p.Pro643Pro|2265/3926|1929/2793|643/930||;p3_1000G_AA=C|||;p3_1000G_AC=3797;p3_1000G_AF=0.758187;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=9879;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.8121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151105824;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2594,1782;ESP6500_AA_GTC=793,1008,387;ESP6500_CDS_SIZES=NM_030913.4:2793,NM_001178062.1:2769,NM_001178061.1:2889;ESP6500_CG=-0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=17;ESP6500_EA_AC=6905,1655;ESP6500_EA_GTC=2793,1319,168;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030913.4:coding-synonymous,NM_001178062.1:coding-synonymous,NM_001178061.1:coding-synonymous;ESP6500_GL=SEMA6C;ESP6500_GRCh38_POSITION=1:151133348;ESP6500_GTC=3586,2327,555;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_030913.4:c.1929G>C,NM_001178062.1:c.1905G>C,NM_001178061.1:c.2025G>C;ESP6500_HGVS_PROTEIN_VAR=NM_030913.4:p.(P643),NM_001178062.1:p.(P635),NM_001178061.1:p.(P675);ESP6500_MAF=19.3341,40.7221,26.5693;ESP6500_TAC=9499,3437	GT:AD:DP:GQ:PL	0/1:4,13:17:75:368,0,75
chr1	151135342	.	C	T	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.684;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.122;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.689;SOR=0.509;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178061.1|protein_coding|14/19|c.1434-33G>A||||||,T|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178062.1|protein_coding|13/18|c.1314-33G>A||||||,T|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_030913.4|protein_coding|14/18|c.1434-33G>A||||||	GT:AD:DP:GQ:PL	0/1:30,21:51:99:576,0,906
chr1	151135661	rs4971007	T	G	1168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.594;SOR=0.68;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4971007;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|SEMA6C|SEMA6C|transcript|NM_001178061.1|protein_coding|14/20|c.1363A>C|p.Thr455Pro|1699/4022|1363/2889|455/962||,G|missense_variant|MODERATE|SEMA6C|SEMA6C|transcript|NM_001178062.1|protein_coding|13/19|c.1243A>C|p.Thr415Pro|1579/3902|1243/2769|415/922||,G|missense_variant|MODERATE|SEMA6C|SEMA6C|transcript|NM_030913.4|protein_coding|14/19|c.1363A>C|p.Thr455Pro|1699/3926|1363/2793|455/930||;p3_1000G_AA=G|||;p3_1000G_AC=4124;p3_1000G_AF=0.823482;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=20122;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.8201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151108137;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3430,976;ESP6500_AA_AGE=364.1+/-316.8;ESP6500_AA_GTC=1338,754,111;ESP6500_CDS_SIZES=NM_030913.4:2793,NM_001178062.1:2769,NM_001178061.1:2889;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=80;ESP6500_EA_AC=6960,1640;ESP6500_EA_AGE=300.6+/-305.0;ESP6500_EA_GTC=2818,1324,158;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030913.4:missense,NM_001178062.1:missense,NM_001178061.1:missense;ESP6500_GL=SEMA6C;ESP6500_GRCh38_POSITION=1:151135661;ESP6500_GS=38,38,38;ESP6500_GTC=4156,2078,269;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_030913.4:c.1363A>C,NM_001178062.1:c.1243A>C,NM_001178061.1:c.1363A>C;ESP6500_HGVS_PROTEIN_VAR=NM_030913.4:p.(T455P),NM_001178062.1:p.(T415P),NM_001178061.1:p.(T455P);ESP6500_MAF=19.0698,22.1516,20.1138;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10390,2616	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1197,0,929
chr1	151142406	rs11464219;rs397829656	C	CT	736.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.852;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.722;SOR=0.425;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11464219;dbSNPBuildID=126,138;ANN=CT|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178061.1|protein_coding|3/19|c.118+97dupA||||||,CT|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178062.1|protein_coding|3/18|c.118+97dupA||||||,CT|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_030913.4|protein_coding|3/18|c.118+97dupA||||||;p3_1000G_AA=TT|T|TT|deletion;p3_1000G_AC=3862;p3_1000G_AF=0.771166;p3_1000G_AFR_AF=0.615;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=17973;p3_1000G_EAS_AF=0.8631;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151114882;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:28,25:53:99:774,0,864
chr1	151142710	rs12569193	C	T	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.321;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.772;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.71;ReadPosRankSum=1.81;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12569193;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178061.1|protein_coding|2/19|c.-54-35G>A||||||,T|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_001178062.1|protein_coding|2/18|c.-54-35G>A||||||,T|intron_variant|MODIFIER|SEMA6C|SEMA6C|transcript|NM_030913.4|protein_coding|2/18|c.-54-35G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=3055;p3_1000G_AF=0.610024;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=15946;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.7237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151115186;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:167,0,315
chr1	151159155	rs587595300	C	G	1384.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.788;ClippingRankSum=0;DP=136;ExcessHet=3.0103;FS=5.374;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.589;SOR=1.087;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|missense_variant|MODERATE|TNFAIP8L2|TNFAIP8L2|transcript|NM_024575.4|protein_coding|2/2|c.458C>G|p.Pro153Arg|584/1178|458/555|153/184||,G|sequence_feature|LOW|TNFAIP8L2|TNFAIP8L2|helix:combinatorial_evidence_used_in_manual_assertion|NM_024575.4|protein_coding|2/2|c.458C>G||||||,G|downstream_gene_variant|MODIFIER|LYSMD1|LYSMD1|transcript|NM_212551.4|protein_coding||c.*1727G>C|||||593|,G|downstream_gene_variant|MODIFIER|LYSMD1|LYSMD1|transcript|NM_001136543.1|protein_coding||c.*1727G>C|||||593|,G|intron_variant|MODIFIER|TNFAIP8L2-SCNM1|TNFAIP8L2-SCNM1|transcript|NM_001204848.1|protein_coding|1/6|c.-55+2433C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20565;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151131631;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:80,54:134:99:1413,0,2148
chr1	151166597	rs879198762	CT	C	21.76	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.111;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.873;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-1.914;SOR=1.609;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs78216774;dbSNPBuildID=147;ANN=C|upstream_gene_variant|MODIFIER|LYSMD1|LYSMD1|transcript|NM_212551.4|protein_coding||c.-1340delA|||||704|,C|upstream_gene_variant|MODIFIER|LYSMD1|LYSMD1|transcript|NM_001136543.1|protein_coding||c.-816delA|||||650|,C|downstream_gene_variant|MODIFIER|TMOD4|TMOD4|transcript|NM_013353.2|protein_coding||c.*3483delA|||||3389|,C|intron_variant|MODIFIER|TNFAIP8L2-SCNM1|TNFAIP8L2-SCNM1|transcript|NM_001204848.1|protein_coding|2/6|c.17+70delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SCNM1|SCNM1|transcript|NM_024041.3|protein_coding|2/6|c.122+70delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SCNM1|SCNM1|transcript|NM_001204856.1|protein_coding|2/6|c.17+70delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SCNM1|SCNM1|transcript|NR_037937.1|pseudogene|2/6|n.253+70delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:22,5:27:59:59,0,495
chr1	151173710	rs7552226	C	G	566.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7552226;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|TNFAIP8L2-SCNM1|TNFAIP8L2-SCNM1|transcript|NM_001204848.1|protein_coding||c.*4625C>G|||||3413|,G|downstream_gene_variant|MODIFIER|SCNM1|SCNM1|transcript|NM_024041.3|protein_coding||c.*4625C>G|||||3413|,G|downstream_gene_variant|MODIFIER|VPS72|VPS72|transcript|NM_001271087.1|protein_coding||c.*2934G>C|||||2590|,G|downstream_gene_variant|MODIFIER|SCNM1|SCNM1|transcript|NM_001204856.1|protein_coding||c.*4625C>G|||||3413|,G|downstream_gene_variant|MODIFIER|SCNM1|SCNM1|transcript|NR_037937.1|pseudogene||n.*3413C>G|||||3413|,G|downstream_gene_variant|MODIFIER|VPS72|VPS72|transcript|NM_001271088.1|protein_coding||c.*3160G>C|||||2590|,G|downstream_gene_variant|MODIFIER|VPS72|VPS72|transcript|NM_005997.2|protein_coding||c.*2934G>C|||||2590|,G|intron_variant|MODIFIER|TMOD4|TMOD4|transcript|NM_013353.2|protein_coding|3/9|c.281-95G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4631;p3_1000G_AF=0.92472;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17994;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.9861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151146186;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:595,51,0
chr1	151177125	rs6656261	A	G	734.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6656261;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|TMOD4|TMOD4|transcript|NM_013353.2|protein_coding||c.-2250T>C|||||1054|,G|intron_variant|MODIFIER|VPS72|VPS72|transcript|NM_001271087.1|protein_coding|5/5|c.708-61T>C||||||,G|intron_variant|MODIFIER|VPS72|VPS72|transcript|NM_001271088.1|protein_coding|5/5|c.573-228T>C||||||,G|intron_variant|MODIFIER|VPS72|VPS72|transcript|NM_005997.2|protein_coding|5/5|c.708-94T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4895;p3_1000G_AF=0.977436;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19278;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151149601;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:763,63,0
chr1	151224314	rs587690449	C	G	341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.788;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.173;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135638.1|protein_coding|2/15|c.120+35C>G||||||,G|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135636.1|protein_coding|2/13|c.120+35C>G||||||,G|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135637.1|protein_coding|2/13|c.117+35C>G||||||,G|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_003557.2|protein_coding|2/14|c.117+35C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17901;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151196790;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,15:28:99:370,0,273
chr1	151227515	.	CT	C	170.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.365;SOR=2.833;DEL;HET;VARTYPE=DEL;ANN=C|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135638.1|protein_coding|4/15|c.237+119delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135636.1|protein_coding|3/13|c.201+119delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135637.1|protein_coding|3/13|c.198+119delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_003557.2|protein_coding|3/14|c.198+119delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,7:11:99:208,0,101
chr1	151234620	rs587611007	A	G	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.36;ReadPosRankSum=-0.198;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135638.1|protein_coding|8/15|c.939+124A>G||||||,G|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135636.1|protein_coding|7/13|c.903+124A>G||||||,G|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135637.1|protein_coding|7/13|c.900+124A>G||||||,G|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_003557.2|protein_coding|7/14|c.900+124A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21466;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151207096;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,10:16:99:338,0,152
chr1	151236587	rs12407426	C	T	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.062;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=-0.931;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12407426;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|PIP5K1A|PIP5K1A|transcript|NM_001135638.1|protein_coding|9/16|c.969C>T|p.Tyr323Tyr|1421/3807|969/1689|323/562||,T|synonymous_variant|LOW|PIP5K1A|PIP5K1A|transcript|NM_001135636.1|protein_coding|8/14|c.933C>T|p.Tyr311Tyr|1385/3687|933/1569|311/522||,T|synonymous_variant|LOW|PIP5K1A|PIP5K1A|transcript|NM_001135637.1|protein_coding|8/14|c.930C>T|p.Tyr310Tyr|1382/3621|930/1503|310/500||,T|synonymous_variant|LOW|PIP5K1A|PIP5K1A|transcript|NM_003557.2|protein_coding|8/15|c.930C>T|p.Tyr310Tyr|1382/3768|930/1650|310/549||;p3_1000G_AA=T|||;p3_1000G_AC=3212;p3_1000G_AF=0.641374;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=18111;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.7008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151209063;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2910,1496;ESP6500_AA_AGE=475.5+/-357.3;ESP6500_AA_GTC=946,1018,239;ESP6500_CDS_SIZES=NM_003557.2:1650,NM_001135638.1:1689,NM_001135637.1:1503,NM_001135636.1:1569;ESP6500_CG=-6.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=6022,2578;ESP6500_EA_AGE=416.1+/-352.0;ESP6500_EA_GTC=2086,1850,364;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003557.2:coding-synonymous,NM_001135638.1:coding-synonymous,NM_001135637.1:coding-synonymous,NM_001135636.1:coding-synonymous;ESP6500_GL=PIP5K1A;ESP6500_GRCh38_POSITION=1:151236587;ESP6500_GTC=3032,2868,603;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003557.2:c.930C>T,NM_001135638.1:c.969C>T,NM_001135637.1:c.930C>T,NM_001135636.1:c.933C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003557.2:p.(Y310),NM_001135638.1:p.(Y323),NM_001135637.1:p.(Y310),NM_001135636.1:p.(Y311);ESP6500_MAF=29.9767,33.9537,31.324;ESP6500_TAC=8932,4074	GT:AD:DP:GQ:PL	0/1:12,7:19:99:154,0,344
chr1	151238313	rs7532935	C	T	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.945;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.46;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.907;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7532935;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135638.1|protein_coding|10/15|c.1229+48C>T||||||,T|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135636.1|protein_coding|8/13|c.1110-817C>T||||||,T|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135637.1|protein_coding|9/13|c.1190+48C>T||||||,T|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_003557.2|protein_coding|9/14|c.1190+48C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2978;p3_1000G_AF=0.594649;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=20100;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.6958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151210789;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5879;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2365,2041;ESP6500_AA_AGE=607.4+/-390.9;ESP6500_AA_GTC=636,1093,474;ESP6500_CDS_SIZES=NM_003557.2:1650,NM_001135638.1:1689,NM_001135637.1:1503,NM_001135636.1:1569;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=49;ESP6500_EA_AC=5961,2639;ESP6500_EA_AGE=685.3+/-404.0;ESP6500_EA_GTC=2041,1879,380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003557.2:intron,NM_001135638.1:intron,NM_001135637.1:intron,NM_001135636.1:intron;ESP6500_GL=PIP5K1A;ESP6500_GRCh38_POSITION=1:151238313;ESP6500_GTC=2677,2972,854;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003557.2:c.1190+48C>T,NM_001135638.1:c.1229+48C>T,NM_001135637.1:c.1190+48C>T,NM_001135636.1:c.1110-817C>T;ESP6500_MAF=30.686,46.3232,35.9834;ESP6500_TAC=8326,4680	GT:AD:DP:GQ:PL	0/1:26,23:49:99:535,0,584
chr1	151239923	rs141190258;rs59256423	C	CCTT	763.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=3.383;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141190258,rs59256423;dbSNPBuildID=134,129;ANN=CCTT|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135638.1|protein_coding|11/15|c.1279-30_1279-29insTCT||||||INFO_REALIGN_3_PRIME,CCTT|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135636.1|protein_coding|9/13|c.1159-30_1159-29insTCT||||||INFO_REALIGN_3_PRIME,CCTT|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_001135637.1|protein_coding|10/13|c.1240-30_1240-29insTCT||||||INFO_REALIGN_3_PRIME,CCTT|intron_variant|MODIFIER|PIP5K1A|PIP5K1A|transcript|NM_003557.2|protein_coding|10/14|c.1240-30_1240-29insTCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3905;p3_1000G_AF=0.779752;p3_1000G_AFR_AF=0.8359;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=19650;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.8817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151212399;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:54:801,54,0
chr1	151254895	rs3811405	A	G	119.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811405;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PSMD4|PSMD4|transcript|NM_002810.2|protein_coding|1/9|c.26+87A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3812;p3_1000G_AF=0.761182;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=11492;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.828;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151227371;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:147,12,0
chr1	151265113	rs3216063;rs397840182;rs398074304	TC	T	98.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.81;ReadPosRankSum=1.26;SOR=2.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3216063;dbSNPBuildID=134,138,138;ANN=T|intron_variant|MODIFIER|PSMD4|PSMD4|transcript|NM_002810.2|protein_coding|4/9|c.370-46delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCCCCC|CCCCCCC|CCCCCC|insertion;p3_1000G_AC=3219;p3_1000G_AF=0.642772;p3_1000G_AFR_AF=0.6649;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=20277;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.7048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151237589;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=INDEL;ESP6500_AA_AC=2824,1442;ESP6500_AA_GTC=928,968,237;ESP6500_CDS_SIZES=NM_002810.2:1134;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=85;ESP6500_EA_AC=5808,2440;ESP6500_EA_GTC=2036,1736,352;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002810.2:intron;ESP6500_GL=PSMD4;ESP6500_GRCh38_POSITION=1:151265113;ESP6500_GTC=2964,2704,589;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002810.2:c.370-52del1;ESP6500_MAF=29.5829,33.8022,31.0213;ESP6500_TAC=8632,3882	GT:AD:DP:GQ:PL	0/1:11,6:17:99:136,0,266
chr1	151265746	rs2275900	G	A	550.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.748;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=-0.701;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275900;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PSMD4|PSMD4|transcript|NM_002810.2|protein_coding|6/9|c.654+137G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3051;p3_1000G_AF=0.609225;p3_1000G_AFR_AF=0.5514;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=20847;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151238222;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,21:35:99:579,0,391
chr1	151266575	rs7489	T	C	537.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.547;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.227;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.965;SOR=0.316;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7489;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|PSMD4|PSMD4|transcript|NM_002810.2|protein_coding|9/10|c.951T>C|p.Ser317Ser|1013/1331|951/1134|317/377||;p3_1000G_AA=C|||;p3_1000G_AC=3182;p3_1000G_AF=0.635383;p3_1000G_AFR_AF=0.6384;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=19895;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.7048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151239051;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2799,1607;ESP6500_AA_AGE=496.5+/-363.6;ESP6500_AA_GTC=885,1029,289;ESP6500_CDS_SIZES=NM_002810.2:1134;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=71;ESP6500_EA_AC=6062,2538;ESP6500_EA_AGE=413.7+/-351.2;ESP6500_EA_GTC=2116,1830,354;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002810.2:coding-synonymous;ESP6500_GL=PSMD4;ESP6500_GRCh38_POSITION=1:151266575;ESP6500_GTC=3001,2859,643;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002810.2:c.951T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002810.2:p.(S317);ESP6500_MAF=29.5116,36.473,31.8699;ESP6500_TAC=8861,4145	GT:AD:DP:GQ:PL	0/1:17,21:38:99:566,0,477
chr1	151267094	rs10888408	C	T	1342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.556;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-1;SOR=0.618;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888408;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PSMD4|PSMD4|transcript|NM_002810.2|protein_coding|9/9|c.964-79C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3091;p3_1000G_AF=0.617212;p3_1000G_AFR_AF=0.5809;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=19893;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151239570;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,55:84:99:1371,0,756
chr1	151286567	rs2298265	C	T	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.445;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.384;SOR=0.842;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298265;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ZNF687|ZNF687|transcript|NM_001304763.1|protein_coding|3/10|c.276C>T|p.Pro92Pro|1246/5380|276/3714|92/1237||,T|synonymous_variant|LOW|ZNF687|ZNF687|transcript|NM_001304764.1|protein_coding|2/9|c.276C>T|p.Pro92Pro|447/4581|276/3714|92/1237||,T|synonymous_variant|LOW|ZNF687|ZNF687|transcript|NM_020832.2|protein_coding|2/9|c.276C>T|p.Pro92Pro|377/4511|276/3714|92/1237||,T|upstream_gene_variant|MODIFIER|LOC100507670|LOC100507670|transcript|NR_135595.1|pseudogene||n.-4638G>A|||||4638|;p3_1000G_AA=c|||;p3_1000G_AC=510;p3_1000G_AF=0.101837;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=19268;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.1282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151259043;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=513,3893;ESP6500_AA_AGE=235.5+/-248.0;ESP6500_AA_GTC=28,457,1718;ESP6500_CDS_SIZES=NM_020832.1:3714;ESP6500_CG=-8.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=1026,7574;ESP6500_EA_AGE=218.1+/-256.6;ESP6500_EA_GTC=55,916,3329;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020832.1:coding-synonymous;ESP6500_GL=ZNF687;ESP6500_GRCh38_POSITION=1:151286567;ESP6500_GTC=83,1373,5047;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020832.1:c.276C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020832.1:p.(P92);ESP6500_MAF=11.9302,11.6432,11.833;ESP6500_TAC=1539,11467	GT:AD:DP:GQ:PL	0/1:19,18:37:99:474,0,475
chr1	151287067	rs3748545	G	A	408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.997;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=1.49;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748545;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|ZNF687|ZNF687|transcript|NM_001304763.1|protein_coding|3/10|c.776G>A|p.Gly259Glu|1746/5380|776/3714|259/1237||,A|missense_variant|MODERATE|ZNF687|ZNF687|transcript|NM_001304764.1|protein_coding|2/9|c.776G>A|p.Gly259Glu|947/4581|776/3714|259/1237||,A|missense_variant|MODERATE|ZNF687|ZNF687|transcript|NM_020832.2|protein_coding|2/9|c.776G>A|p.Gly259Glu|877/4511|776/3714|259/1237||,A|downstream_gene_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_002651.2|protein_coding||c.*5785C>T|||||4730|,A|downstream_gene_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198773.1|protein_coding||c.*5785C>T|||||4730|,A|downstream_gene_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198775.1|protein_coding||c.*5785C>T|||||4730|,A|downstream_gene_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198774.1|protein_coding||c.*5785C>T|||||4730|;p3_1000G_AA=G|||;p3_1000G_AC=545;p3_1000G_AF=0.108826;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=18984;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.1282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151259543;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=617,3789;ESP6500_AA_AGE=261.0+/-264.0;ESP6500_AA_GTC=46,525,1632;ESP6500_CDS_SIZES=NM_020832.1:3714;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=66;ESP6500_EA_AC=1026,7574;ESP6500_EA_AGE=217.3+/-256.0;ESP6500_EA_GTC=55,916,3329;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020832.1:missense;ESP6500_GL=ZNF687;ESP6500_GRCh38_POSITION=1:151287067;ESP6500_GS=98;ESP6500_GTC=101,1441,4961;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020832.1:c.776G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020832.1:p.(G259E);ESP6500_MAF=11.9302,14.0036,12.6326;ESP6500_PH=benign:0.028;ESP6500_TAC=1643,11363	GT:AD:DP:GQ:PL	0/1:24,18:42:99:437,0,706
chr1	151291306	rs10788803	A	G	727.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.06;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=3.604;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=2.63;SOR=1.659;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10788803;dbSNPBuildID=120;ANN=G|3_prime_UTR_variant|MODIFIER|ZNF687|ZNF687|transcript|NM_001304763.1|protein_coding|10/10|c.*97A>G|||||97|,G|3_prime_UTR_variant|MODIFIER|ZNF687|ZNF687|transcript|NM_001304764.1|protein_coding|9/9|c.*97A>G|||||97|,G|3_prime_UTR_variant|MODIFIER|ZNF687|ZNF687|transcript|NM_020832.2|protein_coding|9/9|c.*97A>G|||||97|,G|downstream_gene_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_002651.2|protein_coding||c.*1546T>C|||||491|,G|downstream_gene_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198773.1|protein_coding||c.*1546T>C|||||491|,G|downstream_gene_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198775.1|protein_coding||c.*1546T>C|||||491|,G|downstream_gene_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198774.1|protein_coding||c.*1546T>C|||||491|;p3_1000G_AA=a|||;p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=15929;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.6352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151263782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,24:44:99:756,0,518
chr1	151306029	rs2031797	A	G	3472.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=1.103;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2031797;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_002651.2|protein_coding|6/12|c.1446+107T>C||||||,G|intron_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198773.1|protein_coding|6/12|c.1365+107T>C||||||,G|intron_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198775.1|protein_coding|3/9|c.414+107T>C||||||,G|intron_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198774.1|protein_coding|4/10|c.1365+107T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3713;p3_1000G_AF=0.741414;p3_1000G_AFR_AF=0.8116;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=18954;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151278505;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3501,306,0
chr1	151310365	rs1752388	A	C	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.108;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.4;ReadPosRankSum=-0.484;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1752388;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_002651.2|protein_coding|3/12|c.946-110T>G||||||,C|intron_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198773.1|protein_coding|4/12|c.910-2564T>G||||||,C|intron_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198775.1|protein_coding|1/9|c.-42-2564T>G||||||,C|intron_variant|MODIFIER|PI4KB|PI4KB|transcript|NM_001198774.1|protein_coding|2/10|c.910-2564T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=567;p3_1000G_AF=0.113219;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=17132;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.1332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151282841;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:73:73,0,104
chr1	151341903	rs1752387;292605	T	C	535.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1752387;dbSNPBuildID=89;ANN=C|3_prime_UTR_variant|MODIFIER|RFX5|RFX5|transcript|NM_000449.3|protein_coding|11/11|c.*283A>G|||||283|,C|3_prime_UTR_variant|MODIFIER|RFX5|RFX5|transcript|NM_001025603.1|protein_coding|11/11|c.*283A>G|||||283|;p3_1000G_AA=C|||;p3_1000G_AC=3828;p3_1000G_AF=0.764377;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=21994;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151314379;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7198;p3_1000G_VT=SNP;CLINVAR_ALLELEID=276401;CLINVAR_CLNDISDB=MedGen:C2931418,OMIM:209920,Orphanet:ORPHA572;CLINVAR_CLNDN=Bare_lymphocyte_syndrome_2;CLINVAR_CLNHGVS=NC_000001.11:g.151341903T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2342;CLINVAR_GENEINFO=RFX5:5993;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1752387	GT:AD:DP:GQ:PL	1/1:0,16:16:48:564,48,0
chr1	151343685	rs1752386;403373	G	A	1277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.845;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1752386;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|RFX5|RFX5|transcript|NM_000449.3|protein_coding|9/11|c.753C>T|p.Leu251Leu|974/3618|753/1851|251/616||,A|synonymous_variant|LOW|RFX5|RFX5|transcript|NM_001025603.1|protein_coding|9/11|c.753C>T|p.Leu251Leu|967/3611|753/1851|251/616||,A|upstream_gene_variant|MODIFIER|GBAT2|GBAT2|transcript|NR_131972.1|pseudogene||n.-3325G>A|||||3325|;p3_1000G_AA=A|||;p3_1000G_AC=4898;p3_1000G_AF=0.978035;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21462;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151316161;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4086,320;ESP6500_AA_AGE=168.7+/-199.5;ESP6500_AA_GTC=1890,306,7;ESP6500_CDS_SIZES=NM_001025603.1:1851,NM_000449.3:1851;ESP6500_CG=-3.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=52;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001025603.1:coding-synonymous,NM_000449.3:coding-synonymous;ESP6500_GL=RFX5;ESP6500_GRCh38_POSITION=1:151343685;ESP6500_GTC=6188,308,7;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001025603.1:c.753C>T,NM_000449.3:c.753C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001025603.1:p.(L251),NM_000449.3:p.(L251);ESP6500_MAF=0.0233,7.2628,2.4758;ESP6500_TAC=12684,322;CLINVAR_ALLELEID=389326;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.151343685G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RFX5:5993;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1752386	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,41:41:99:1|1:151343685_G_A:1306,123,0
chr1	151369252	rs35093538;rs397981545	G	GC	786.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.358;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35093538;dbSNPBuildID=126,138;ANN=GC|intron_variant|MODIFIER|SELENBP1|SELENBP1|transcript|NM_001258289.1|protein_coding|3/11|c.301-64dupG||||||,GC|intron_variant|MODIFIER|SELENBP1|SELENBP1|transcript|NM_001258288.1|protein_coding|3/10|c.174+189dupG||||||,GC|intron_variant|MODIFIER|SELENBP1|SELENBP1|transcript|NM_003944.3|protein_coding|3/11|c.175-64dupG||||||;p3_1000G_AA=CCCC|CCC|CCCC|deletion;p3_1000G_AC=2476;p3_1000G_AF=0.494409;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=18920;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.5278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151341728;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,25:25:75:824,75,0
chr1	151400724	rs2495391	T	C	1872.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=0.8;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2495391;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_015100.3|protein_coding||c.*4078A>G|||||2000|,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_207171.2|protein_coding||c.*4078A>G|||||2000|,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_001194937.1|protein_coding||c.*4078A>G|||||2000|,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_001194938.1|protein_coding||c.*4078A>G|||||2000|,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_145796.3|protein_coding||c.*4078A>G|||||2000|,C|intron_variant|MODIFIER|PSMB4|PSMB4|transcript|NM_002796.2|protein_coding|3/6|c.495-40T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4887;p3_1000G_AF=0.975839;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=21652;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151373200;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4023,383;ESP6500_AA_AGE=192.3+/-217.7;ESP6500_AA_GTC=1841,341,21;ESP6500_CDS_SIZES=NM_002796.2:795;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=171;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002796.2:intron;ESP6500_GL=PSMB4;ESP6500_GRCh38_POSITION=1:151400724;ESP6500_GTC=6138,344,21;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002796.2:c.495-40T>C;ESP6500_MAF=0.0349,8.6927,2.9679;ESP6500_TAC=12620,386	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1901,171,0
chr1	151401549	rs4603	T	C	2227.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=1.078;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4603;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|PSMB4|PSMB4|transcript|NM_002796.2|protein_coding|6/7|c.701T>C|p.Ile234Thr|724/925|701/795|234/264||,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_015100.3|protein_coding||c.*3253A>G|||||1175|,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_207171.2|protein_coding||c.*3253A>G|||||1175|,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_001194937.1|protein_coding||c.*3253A>G|||||1175|,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_001194938.1|protein_coding||c.*3253A>G|||||1175|,C|downstream_gene_variant|MODIFIER|POGZ|POGZ|transcript|NM_145796.3|protein_coding||c.*3253A>G|||||1175|;p3_1000G_AA=T|||;p3_1000G_AC=962;p3_1000G_AF=0.192093;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=20253;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.1461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151374025;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=415,3991;ESP6500_AA_AGE=200.8+/-224.0;ESP6500_AA_GTC=21,373,1809;ESP6500_CDS_SIZES=NM_002796.2:795;ESP6500_CG=6.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=167;ESP6500_EA_AC=1486,7114;ESP6500_EA_AGE=278.9+/-293.6;ESP6500_EA_GTC=139,1208,2953;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002796.2:missense;ESP6500_GL=PSMB4;ESP6500_GRCh38_POSITION=1:151401549;ESP6500_GS=89;ESP6500_GTC=160,1581,4762;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002796.2:c.701T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002796.2:p.(I234T);ESP6500_MAF=17.2791,9.419,14.6163;ESP6500_PH=possibly-damaging:0.836;ESP6500_TAC=1901,11105	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2256,194,0
chr1	151404772	rs6667714	T	C	569.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.91;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6667714;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|POGZ|POGZ|transcript|NM_015100.3|protein_coding|19/19|c.*30A>G|||||30|,C|3_prime_UTR_variant|MODIFIER|POGZ|POGZ|transcript|NM_207171.2|protein_coding|17/17|c.*30A>G|||||30|,C|3_prime_UTR_variant|MODIFIER|POGZ|POGZ|transcript|NM_001194937.1|protein_coding|19/19|c.*30A>G|||||30|,C|3_prime_UTR_variant|MODIFIER|POGZ|POGZ|transcript|NM_001194938.1|protein_coding|18/18|c.*30A>G|||||30|,C|3_prime_UTR_variant|MODIFIER|POGZ|POGZ|transcript|NM_145796.3|protein_coding|17/17|c.*30A>G|||||30|,C|downstream_gene_variant|MODIFIER|PSMB4|PSMB4|transcript|NM_002796.2|protein_coding||c.*2943T>C|||||2836|;p3_1000G_AA=C|||;p3_1000G_AC=4887;p3_1000G_AF=0.975839;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=14730;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151377248;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4020,382;ESP6500_AA_AGE=173.7+/-203.5;ESP6500_AA_GTC=1840,340,21;ESP6500_CDS_SIZES=NM_207171.2:4074,NM_145796.3:3948,NM_015100.3:4233,NM_001194938.1:4047,NM_001194937.1:4206;ESP6500_CG=2.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=52;ESP6500_EA_AC=8595,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4296,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207171.2:utr-3,NM_145796.3:utr-3,NM_015100.3:utr-3,NM_001194938.1:utr-3,NM_001194937.1:utr-3;ESP6500_GL=POGZ;ESP6500_GRCh38_POSITION=1:151404772;ESP6500_GTC=6136,343,21;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207171.2:c.*30A>G,NM_145796.3:c.*30A>G,NM_015100.3:c.*30A>G,NM_001194938.1:c.*30A>G,NM_001194937.1:c.*30A>G;ESP6500_MAF=0.0349,8.6779,2.9615;ESP6500_TAC=12615,385	GT:AD:DP:GQ:PL	1/1:0,16:16:48:598,48,0
chr1	151408251	rs2025899	A	G	1313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2025899;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|POGZ|POGZ|transcript|NM_015100.3|protein_coding|14/18|c.2235-11T>C||||||,G|intron_variant|MODIFIER|POGZ|POGZ|transcript|NM_207171.2|protein_coding|12/16|c.2076-11T>C||||||,G|intron_variant|MODIFIER|POGZ|POGZ|transcript|NM_001194937.1|protein_coding|14/18|c.2208-11T>C||||||,G|intron_variant|MODIFIER|POGZ|POGZ|transcript|NM_001194938.1|protein_coding|13/17|c.2049-11T>C||||||,G|intron_variant|MODIFIER|POGZ|POGZ|transcript|NM_145796.3|protein_coding|12/16|c.1950-11T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=371;p3_1000G_AF=0.0740815;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=15923;p3_1000G_EAS_AF=0.0387;p3_1000G_EUR_AF=0.1103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151380727;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=202,4204;ESP6500_AA_GTC=8,186,2009;ESP6500_CDS_SIZES=NM_207171.2:4074,NM_145796.3:3948,NM_015100.3:4233,NM_001194938.1:4047,NM_001194937.1:4206;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=56;ESP6500_EA_AC=1054,7546;ESP6500_EA_GTC=78,898,3324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207171.2:intron,NM_145796.3:intron,NM_015100.3:intron,NM_001194938.1:intron,NM_001194937.1:intron;ESP6500_GL=POGZ;ESP6500_GRCh38_POSITION=1:151408251;ESP6500_GTC=86,1084,5333;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207171.2:c.2076-11T>C,NM_145796.3:c.1950-11T>C,NM_015100.3:c.2235-11T>C,NM_001194938.1:c.2049-11T>C,NM_001194937.1:c.2208-11T>C;ESP6500_MAF=12.2558,4.5847,9.6571;ESP6500_TAC=1256,11750	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1342,114,0
chr1	151523320	rs2337359	T	C	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.955;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2337359;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|5/20|c.1141-114T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2329;p3_1000G_AF=0.465056;p3_1000G_AFR_AF=0.5401;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=21872;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151495796;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:92:92,0,216
chr1	151524664	rs1573130	T	C	907.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=5.818;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.286;SOR=1.158;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1573130;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|7/20|c.1402-10T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2330;p3_1000G_AF=0.465256;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=20589;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151497140;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1969,2429;ESP6500_AA_GTC=467,1035,697;ESP6500_CDS_SIZES=NM_020770.2:3612;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=15;ESP6500_EA_AC=1376,7208;ESP6500_EA_GTC=107,1162,3023;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020770.2:intron;ESP6500_GL=CGN;ESP6500_GRCh38_POSITION=1:151524664;ESP6500_GTC=574,2197,3720;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020770.2:c.1402-10T>C;ESP6500_MAF=16.0298,44.7704,25.7664;ESP6500_TAC=3345,9637	GT:AD:DP:GQ:PL	0/1:42,36:78:99:936,0,1062
chr1	151524900	rs1573129	G	A	758.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.463;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0.9;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.408;SOR=0.671;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1573129;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|8/20|c.1614+14G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1802;p3_1000G_AF=0.359824;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=20487;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151497376;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3364;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=708,3690;ESP6500_AA_AGE=279.9+/-275.1;ESP6500_AA_GTC=59,590,1550;ESP6500_CDS_SIZES=NM_020770.2:3612;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=33;ESP6500_EA_AC=1368,7228;ESP6500_EA_AGE=251.6+/-278.0;ESP6500_EA_GTC=100,1168,3030;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020770.2:intron;ESP6500_GL=CGN;ESP6500_GRCh38_POSITION=1:151524900;ESP6500_GTC=159,1758,4580;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020770.2:c.1614+14G>A;ESP6500_MAF=15.9144,16.0982,15.9766;ESP6500_TAC=2076,10918	GT:AD:DP:GQ:PL	0/1:40,31:71:99:787,0,1059
chr1	151527159	rs2298168	C	T	587.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.496;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.089;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.458;SOR=1.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298168;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|10/20|c.1896+52C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2507;p3_1000G_AF=0.500599;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=19348;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151499635;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1135,1519;ESP6500_AA_GTC=239,657,431;ESP6500_CDS_SIZES=NM_020770.2:3612;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=3878,740;ESP6500_EA_GTC=1627,624,58;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020770.2:intron;ESP6500_GL=CGN;ESP6500_GRCh38_POSITION=1:151527159;ESP6500_GTC=1866,1281,489;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020770.2:c.1896+52C>T;ESP6500_MAF=16.0243,42.7656,31.0644;ESP6500_TAC=5013,2259	GT:AD:DP:GQ:PL	0/1:17,21:38:99:616,0,459
chr1	151529169	rs372780029	A	G	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.611;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.709;SOR=0.711;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372780029;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|10/20|c.1897-181A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21280;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151501645;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,17:30:99:482,0,354
chr1	151529222	rs2096232	A	G	1723.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.651;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2096232;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|10/20|c.1897-128A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4671;p3_1000G_AF=0.932708;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=19760;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151501698;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1752,168,0
chr1	151529261	rs6678068	T	C	2287.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=1.451;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6678068;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|10/20|c.1897-89T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4689;p3_1000G_AF=0.936302;p3_1000G_AFR_AF=0.7723;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=19264;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151501737;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2316,213,0
chr1	151532214	rs7549296	G	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.21;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7549296;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|13/20|c.2572-188G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1319;p3_1000G_AF=0.263379;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=19742;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151504690;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:189,0,145
chr1	151532302	rs6673116	C	T	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.406;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.801;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=0.777;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6673116;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|13/20|c.2572-100C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1876;p3_1000G_AF=0.374601;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=18124;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.3529;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151504778;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,9:21:99:249,0,337
chr1	151535585	rs11204842	A	C	22.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.294;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.75;ReadPosRankSum=0.73;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11204842;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001301317.1|protein_coding||c.-26155A>C|||||4724|,C|upstream_gene_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001126337.1|protein_coding||c.-4782A>C|||||4720|,C|upstream_gene_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_020127.2|protein_coding||c.-4782A>C|||||4720|,C|intron_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding|16/20|c.2995-15A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1320;p3_1000G_AF=0.263578;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=19873;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.3638;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151508061;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1233,3173;ESP6500_AA_AGE=421.7+/-339.5;ESP6500_AA_GTC=165,903,1135;ESP6500_CDS_SIZES=NM_020770.2:3612;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=3565,5035;ESP6500_EA_AGE=511.0+/-377.6;ESP6500_EA_GTC=734,2097,1469;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020770.2:intron;ESP6500_GL=CGN;ESP6500_GRCh38_POSITION=1:151535585;ESP6500_GTC=899,3000,2604;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_020770.2:c.2995-15A>C;ESP6500_MAF=41.4535,27.9846,36.8907;ESP6500_TAC=4798,8208	GT:AD:DP:GQ:PL	0/1:10,3:13:51:51,0,252
chr1	151540419	rs3828054	A	G	474.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=4.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.41;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828054;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|TUFT1|TUFT1|transcript|NM_001126337.1|protein_coding|1/12|c.53A>G|p.Gln18Arg|115/3036|53/1098|18/365||,G|missense_variant|MODERATE|TUFT1|TUFT1|transcript|NM_020127.2|protein_coding|1/13|c.53A>G|p.Gln18Arg|115/3111|53/1173|18/390||,G|5_prime_UTR_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001301317.1|protein_coding|1/14|c.-30A>G|||||21321|,G|downstream_gene_variant|MODIFIER|CGN|CGN|transcript|NM_020770.2|protein_coding||c.*3073A>G|||||1728|;p3_1000G_AA=A|||;p3_1000G_AC=560;p3_1000G_AF=0.111821;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=15997;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151512895;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=678,3728;ESP6500_AA_AGE=285.5+/-278.2;ESP6500_AA_GTC=57,564,1582;ESP6500_CDS_SIZES=NM_020127.2:1173,NM_001126337.1:1098;ESP6500_CG=2.5;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=148;ESP6500_EA_AC=1069,7531;ESP6500_EA_AGE=224.4+/-260.8;ESP6500_EA_GTC=64,941,3295;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020127.2:missense,NM_001126337.1:missense;ESP6500_GL=TUFT1;ESP6500_GRCh38_POSITION=1:151540419;ESP6500_GS=43,43;ESP6500_GTC=121,1505,4877;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020127.2:c.53A>G,NM_001126337.1:c.53A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020127.2:p.(Q18R),NM_001126337.1:p.(Q18R);ESP6500_MAF=12.4302,15.3881,13.4323;ESP6500_PH=possibly-damaging:0.688,possibly-damaging:0.688;ESP6500_TAC=1747,11259	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,19:47:99:0|1:151540419_A_G:503,0,708
chr1	151561666	rs4132646	A	C	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.328;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4132646;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001301317.1|protein_coding|1/13|c.-22-52A>C||||||,C|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001126337.1|protein_coding|1/11|c.61-919A>C||||||,C|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_020127.2|protein_coding|1/12|c.61-425A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1854;p3_1000G_AF=0.370208;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=19902;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151534142;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:145,0,102
chr1	151562544	rs143684177;rs747961885	A	ATC	280.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.553;SOR=2.476;INS;HET;VARTYPE=INS;dbSNP138_ID=rs143684177,rs34211422;dbSNPBuildID=134,144;ANN=ATC|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001301317.1|protein_coding|3/13|c.193-18_193-17dupTC||||||INFO_REALIGN_3_PRIME,ATC|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001126337.1|protein_coding|1/11|c.61-18_61-17dupTC||||||INFO_REALIGN_3_PRIME,ATC|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_020127.2|protein_coding|2/12|c.136-18_136-17dupTC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1247;p3_1000G_AF=0.249002;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=23952;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151535020;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,11:17:99:318,0,131
chr1	151566308	rs140188723;rs57179871;rs770984174	T	TTC	135.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.137;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.139;SOR=0.551;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57179871,rs140188723;dbSNPBuildID=134,144,129;ANN=TTC|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001301317.1|protein_coding|7/13|c.537+99_537+100dupTC||||||INFO_REALIGN_3_PRIME,TTC|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001126337.1|protein_coding|5/11|c.405+99_405+100dupTC||||||INFO_REALIGN_3_PRIME,TTC|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_020127.2|protein_coding|6/12|c.480+99_480+100dupTC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1013;p3_1000G_AF=0.202276;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=18096;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151538784;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,6:13:99:173,0,195
chr1	151574455	rs6660238	A	G	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=-0.178;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6660238;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001301317.1|protein_coding|9/13|c.780+57A>G||||||,G|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001126337.1|protein_coding|7/11|c.648+57A>G||||||,G|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_020127.2|protein_coding|8/12|c.723+57A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4510;p3_1000G_AF=0.900559;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=17421;p3_1000G_EAS_AF=0.9296;p3_1000G_EUR_AF=0.9076;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151546931;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,14:21:99:402,0,151
chr1	151574777	rs16833391	C	T	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.362;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=-0.301;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16833391;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001301317.1|protein_coding|9/13|c.781-134C>T||||||,T|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001126337.1|protein_coding|7/11|c.649-134C>T||||||,T|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_020127.2|protein_coding|8/12|c.724-134C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=592;p3_1000G_AF=0.118211;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=19249;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151547253;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:85:85,0,292
chr1	151578602	rs1544218	A	G	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.165;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1544218;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001301317.1|protein_coding|10/13|c.876-119A>G||||||,G|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_001126337.1|protein_coding|8/11|c.744-119A>G||||||,G|intron_variant|MODIFIER|TUFT1|TUFT1|transcript|NM_020127.2|protein_coding|9/12|c.819-119A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3896;p3_1000G_AF=0.777955;p3_1000G_AFR_AF=0.6649;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=20063;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151551078;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:224,0,147
chr1	151662036	rs3831367;rs397756464	A	AT	581.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=5.994;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3831367;dbSNPBuildID=107,138;ANN=AT|intron_variant|MODIFIER|SNX27|SNX27|transcript|NM_030918.5|protein_coding|4/11|c.802-123dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;p3_1000G_AC=2246;p3_1000G_AF=0.448482;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=24352;p3_1000G_EAS_AF=0.3681;p3_1000G_EUR_AF=0.666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151634512;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,19:19:63:619,63,0
chr1	151662327	rs11808761	G	A	771.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.596;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.507;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11808761;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SNX27|SNX27|transcript|NM_030918.5|protein_coding|5/11|c.906+57G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1352;p3_1000G_AF=0.269968;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=20659;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.5268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151634803;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,30:54:99:800,0,675
chr1	151709091	rs2280474	G	A	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.702;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=1.71;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280474;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_007185.6|protein_coding|4/12|c.407-14C>T||||||,A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_001172648.3|protein_coding|4/12|c.266-14C>T||||||,A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_001172649.3|protein_coding|4/11|c.407-14C>T||||||,A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_001291106.1|protein_coding|4/12|c.407-14C>T||||||,A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_001291107.1|protein_coding|4/12|c.404-14C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=758;p3_1000G_AF=0.151358;p3_1000G_AFR_AF=0.2005;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=14423;p3_1000G_EAS_AF=0.1716;p3_1000G_EUR_AF=0.1372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151681567;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1237;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=767,3639;ESP6500_AA_GTC=60,647,1496;ESP6500_CDS_SIZES=NM_007185.4:1398,NM_001172649.1:1248,NM_001172648.1:1257;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=1101,7499;ESP6500_EA_GTC=71,959,3270;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007185.4:intron,NM_001172649.1:intron,NM_001172648.1:intron;ESP6500_GL=CELF3;ESP6500_GRCh38_POSITION=1:151709091;ESP6500_GTC=131,1606,4766;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007185.4:c.407-14C>T,NM_001172649.1:c.407-14C>T,NM_001172648.1:c.266-14C>T;ESP6500_MAF=12.8023,17.4081,14.3626;ESP6500_TAC=1868,11138	GT:AD:DP:GQ:PL	0/1:15,20:35:99:519,0,458
chr1	151714507	rs939592	T	A	669.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.23;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.851;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=2.25;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs939592;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_007185.6|protein_coding|2/12|c.228+87A>T||||||,A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_001172648.3|protein_coding|2/12|c.87+87A>T||||||,A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_001172649.3|protein_coding|2/11|c.228+87A>T||||||,A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_001291106.1|protein_coding|2/12|c.228+87A>T||||||,A|intron_variant|MODIFIER|CELF3|CELF3|transcript|NM_001291107.1|protein_coding|2/12|c.228+87A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3549;p3_1000G_AF=0.708666;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=18392;p3_1000G_EAS_AF=0.8224;p3_1000G_EUR_AF=0.4801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151686983;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,30:44:99:698,0,317
chr1	151727713	rs72506285	C	CCTG	809.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=2.419;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs72506285;dbSNPBuildID=130;ANN=CCTG|intron_variant|MODIFIER|RIIAD1|RIIAD1|transcript|NM_001144956.1|protein_coding|3/4|c.208+93_208+94insTGC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.8979;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DP=19803;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151700189;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,19:19:57:847,57,0
chr1	151727738	rs2275920	T	C	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.15;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=1.84;SOR=0.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275920;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RIIAD1|RIIAD1|transcript|NM_001144956.1|protein_coding|3/4|c.208+117T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=901;p3_1000G_AF=0.179912;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=19772;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151700214;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:99:105,0,313
chr1	151727751	rs2275921	G	A	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.405;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275921;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RIIAD1|RIIAD1|transcript|NM_001144956.1|protein_coding|3/4|c.208+130G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1169;p3_1000G_AF=0.233427;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=19947;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151700227;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:129,0,214
chr1	151728869	rs2298294	A	G	402.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.054;SOR=1.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298294;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|RIIAD1|RIIAD1|transcript|NM_001144956.1|protein_coding|4/5|c.*33A>G|||||33|;p3_1000G_AA=A|||;p3_1000G_AC=1168;p3_1000G_AF=0.233227;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=15884;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.2117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151701345;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=280,1104;ESP6500_AA_GTC=25,230,437;ESP6500_CDS_SIZES=NM_001144956.1:279;ESP6500_CG=2.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=684,2498;ESP6500_EA_GTC=74,536,981;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001144956.1:utr-3;ESP6500_GL=RIIAD1;ESP6500_GRCh38_POSITION=1:151728869;ESP6500_GTC=99,766,1418;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001144956.1:c.*33A>G;ESP6500_MAF=21.4959,20.2312,21.1126;ESP6500_TAC=964,3602	GT:AD:DP:GQ:PL	0/1:13,15:28:99:431,0,338
chr1	151760224	rs10888433	A	G	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.53;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.839;SOR=0.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888433;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001134939.1|protein_coding||c.-2912A>G|||||2745|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|upstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001301371.1|protein_coding||c.-3271A>G|||||3256|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|intron_variant|MODIFIER|MRPL9|MRPL9|transcript|NM_031420.3|protein_coding|6/6|c.673-43T>C||||||,G|intron_variant|MODIFIER|MRPL9|MRPL9|transcript|NM_001300733.1|protein_coding|5/5|c.571-43T>C||||||,G|intron_variant|MODIFIER|MRPL9|MRPL9|transcript|NR_125331.1|pseudogene|6/6|n.1150-43T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2565;p3_1000G_AF=0.512181;p3_1000G_AFR_AF=0.6944;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=19645;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.4642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151732700;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2782,1624;ESP6500_AA_AGE=490.1+/-361.7;ESP6500_AA_GTC=876,1030,297;ESP6500_CDS_SIZES=NM_031420.2:804;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=55;ESP6500_EA_AC=4105,4495;ESP6500_EA_AGE=582.7+/-391.4;ESP6500_EA_GTC=968,2169,1163;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031420.2:intron;ESP6500_GL=MRPL9;ESP6500_GRCh38_POSITION=1:151760224;ESP6500_GTC=1844,3199,1460;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031420.2:c.673-43T>C;ESP6500_MAF=47.7326,36.8588,47.0475;ESP6500_TAC=6887,6119	GT:AD:DP:GQ:PL	0/1:23,20:43:99:532,0,642
chr1	151760859	rs8480	T	G	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.48;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=-0.812;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8480;dbSNPBuildID=52;ANN=G|missense_variant|MODERATE|MRPL9|MRPL9|transcript|NM_031420.3|protein_coding|6/7|c.629A>C|p.Glu210Ala|1066/1648|629/804|210/267||,G|missense_variant|MODERATE|MRPL9|MRPL9|transcript|NM_001300733.1|protein_coding|5/6|c.527A>C|p.Glu176Ala|964/1546|527/702|176/233||,G|upstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001134939.1|protein_coding||c.-2277T>G|||||2110|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|upstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001301371.1|protein_coding||c.-2636T>G|||||2621|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|non_coding_transcript_exon_variant|MODIFIER|MRPL9|MRPL9|transcript|NR_125331.1|pseudogene|6/7|n.1106A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2564;p3_1000G_AF=0.511981;p3_1000G_AFR_AF=0.6936;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=14847;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.4642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151733335;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2777,1629;ESP6500_AA_AGE=660.1+/-400.7;ESP6500_AA_GTC=871,1035,297;ESP6500_CDS_SIZES=NM_031420.2:804;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=90;ESP6500_EA_AC=4111,4489;ESP6500_EA_AGE=564.0+/-388.2;ESP6500_EA_GTC=970,2171,1159;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031420.2:missense;ESP6500_GL=MRPL9;ESP6500_GRCh38_POSITION=1:151760859;ESP6500_GS=107;ESP6500_GTC=1841,3206,1456;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_031420.2:c.629A>C;ESP6500_HGVS_PROTEIN_VAR=NM_031420.2:p.(E210A);ESP6500_MAF=47.8023,36.9723,47.0398;ESP6500_PH=probably-damaging:0.968;ESP6500_TAC=6888,6118	GT:AD:DP:GQ:PL	0/1:6,3:9:66:66,0,149
chr1	151767944	rs12066445	G	A	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.778;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.77;ReadPosRankSum=-1.27;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12066445;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|MRPL9|MRPL9|transcript|NM_031420.3|protein_coding||c.-4465C>T|||||4028|,A|upstream_gene_variant|MODIFIER|MRPL9|MRPL9|transcript|NM_001300733.1|protein_coding||c.-4465C>T|||||4028|,A|upstream_gene_variant|MODIFIER|MRPL9|MRPL9|transcript|NR_125331.1|pseudogene||n.-4028C>T|||||4028|,A|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_006862.3|protein_coding||c.*6508C>T|||||3621|,A|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_016178.2|protein_coding|2/4|c.305-114G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001134939.1|protein_coding|2/4|c.170-114G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001301371.1|protein_coding|2/4|c.209-114G>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;p3_1000G_AA=G|||;p3_1000G_AC=1348;p3_1000G_AF=0.269169;p3_1000G_AFR_AF=0.1967;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=19469;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.3419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151740420;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,11:14:86:389,0,86
chr1	151768003	rs1196457	C	A	1087.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=4.68;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1196457;dbSNPBuildID=87;ANN=A|upstream_gene_variant|MODIFIER|MRPL9|MRPL9|transcript|NM_031420.3|protein_coding||c.-4524G>T|||||4087|,A|upstream_gene_variant|MODIFIER|MRPL9|MRPL9|transcript|NM_001300733.1|protein_coding||c.-4524G>T|||||4087|,A|upstream_gene_variant|MODIFIER|MRPL9|MRPL9|transcript|NR_125331.1|pseudogene||n.-4087G>T|||||4087|,A|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_006862.3|protein_coding||c.*6449G>T|||||3562|,A|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_016178.2|protein_coding|2/4|c.305-55C>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001134939.1|protein_coding|2/4|c.170-55C>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001301371.1|protein_coding|2/4|c.209-55C>A||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;p3_1000G_AA=A|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20401;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151740479;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1116,96,0
chr1	151770322	rs3748612	T	C	527.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.989;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748612;dbSNPBuildID=107;ANN=C|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083963.1|protein_coding||c.*4130A>G|||||3158|,C|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_006862.3|protein_coding||c.*4130A>G|||||1243|,C|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083964.1|protein_coding||c.*4130A>G|||||3158|,C|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083965.1|protein_coding||c.*4130A>G|||||3158|,C|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_016178.2|protein_coding|4/4|c.566+65T>C||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001134939.1|protein_coding|4/4|c.431+65T>C||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|intron_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001301371.1|protein_coding|4/4|c.470+65T>C||||||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;p3_1000G_AA=T|||;p3_1000G_AC=1452;p3_1000G_AF=0.289936;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=20716;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.3439;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151742798;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,19:38:99:556,0,487
chr1	151771958	rs3790513	T	C	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.03;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.431;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790513;dbSNPBuildID=107;ANN=C|3_prime_UTR_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_006862.3|protein_coding|14/14|c.*68A>G|||||2494|,C|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_016178.2|protein_coding||c.*739T>C|||||628|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083963.1|protein_coding||c.*2494A>G|||||1522|,C|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001134939.1|protein_coding||c.*739T>C|||||628|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001301371.1|protein_coding||c.*739T>C|||||628|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083964.1|protein_coding||c.*2494A>G|||||1522|,C|downstream_gene_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083965.1|protein_coding||c.*2494A>G|||||1522|;p3_1000G_AA=T|||;p3_1000G_AC=825;p3_1000G_AF=0.164736;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=18405;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151744434;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:93:152,0,93
chr1	151775323	rs1781419	G	A	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.292;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.815;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1781419;dbSNPBuildID=89;ANN=A|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_016178.2|protein_coding||c.*4104G>A|||||3993|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001134939.1|protein_coding||c.*4104G>A|||||3993|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001301371.1|protein_coding||c.*4104G>A|||||3993|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,A|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083963.1|protein_coding|10/12|c.1434+69C>T||||||,A|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_006862.3|protein_coding|10/13|c.1434+69C>T||||||,A|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083964.1|protein_coding|10/12|c.1299+69C>T||||||,A|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083965.1|protein_coding|10/12|c.1434+69C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3542;p3_1000G_AF=0.707268;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=22677;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.6581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151747799;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,15:35:99:414,0,648
chr1	151775494	rs11204885	A	G	659.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.957;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.61;SOR=1.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11204885;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|TDRKH|TDRKH|transcript|NM_001083963.1|protein_coding|10/13|c.1332T>C|p.His444His|1489/2815|1332/1686|444/561||,G|synonymous_variant|LOW|TDRKH|TDRKH|transcript|NM_006862.3|protein_coding|10/14|c.1332T>C|p.His444His|1514/2329|1332/1686|444/561||,G|synonymous_variant|LOW|TDRKH|TDRKH|transcript|NM_001083964.1|protein_coding|10/13|c.1197T>C|p.His399His|1379/2705|1197/1551|399/516||,G|synonymous_variant|LOW|TDRKH|TDRKH|transcript|NM_001083965.1|protein_coding|10/13|c.1332T>C|p.His444His|1514/2840|1332/1686|444/561||,G|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_016178.2|protein_coding||c.*4275A>G|||||4164|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001134939.1|protein_coding||c.*4275A>G|||||4164|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|downstream_gene_variant|MODIFIER|OAZ3|OAZ3|transcript|NM_001301371.1|protein_coding||c.*4275A>G|||||4164|WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS;ESP6500_AA=A;ESP6500_AA_AC=409,3479;ESP6500_AA_GTC=19,371,1554;ESP6500_CDS_SIZES=NM_006862.3:1686,NM_001083965.1:1686,NM_001083964.1:1551,NM_001083963.1:1686;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=122;ESP6500_EA_AC=1816,6470;ESP6500_EA_GTC=194,1428,2521;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006862.3:coding-synonymous,NM_001083965.1:coding-synonymous,NM_001083964.1:coding-synonymous,NM_001083963.1:coding-synonymous;ESP6500_GL=TDRKH;ESP6500_GRCh38_POSITION=1:151775494;ESP6500_GTC=213,1799,4075;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006862.3:c.1332T>C,NM_001083965.1:c.1332T>C,NM_001083964.1:c.1197T>C,NM_001083963.1:c.1332T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006862.3:p.(H444),NM_001083965.1:p.(H444),NM_001083964.1:p.(H399),NM_001083963.1:p.(H444);ESP6500_MAF=21.9165,10.5195,18.2767;ESP6500_TAC=2225,9949	GT:AD:DP:GQ:PL	0/1:25,25:50:99:688,0,657
chr1	151776353	rs3811413	G	A	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.275;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.799;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=1.72;SOR=0.362;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811413;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083963.1|protein_coding|7/12|c.1045-85C>T||||||,A|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_006862.3|protein_coding|7/13|c.1045-85C>T||||||,A|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083964.1|protein_coding|7/12|c.910-85C>T||||||,A|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083965.1|protein_coding|7/12|c.1045-85C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=808;p3_1000G_AF=0.161342;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=22364;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151748829;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,14:25:99:454,0,390
chr1	151778487	rs1996730	C	T	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1996730;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083963.1|protein_coding|6/12|c.883+198G>A||||||,T|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_006862.3|protein_coding|6/13|c.883+198G>A||||||,T|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083964.1|protein_coding|6/12|c.748+198G>A||||||,T|intron_variant|MODIFIER|TDRKH|TDRKH|transcript|NM_001083965.1|protein_coding|6/12|c.883+198G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20194;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151750963;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:765,63,0
chr1	151800911	rs1521179	G	A	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.865;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.334;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-0.334;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1521179;dbSNPBuildID=88;ANN=A|3_prime_UTR_variant|MODIFIER|LINGO4|LINGO4|transcript|NM_001004432.3|protein_coding|2/2|c.*12C>T|||||12|;p3_1000G_AA=G|||;p3_1000G_AC=902;p3_1000G_AF=0.180112;p3_1000G_AFR_AF=0.0976;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=17853;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151773387;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=361,4043;ESP6500_AA_GTC=13,335,1854;ESP6500_CDS_SIZES=NM_001004432.2:1782;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=39;ESP6500_EA_AC=22,8574;ESP6500_EA_GTC=0,22,4276;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004432.2:utr-3;ESP6500_GL=LINGO4;ESP6500_GRCh38_POSITION=1:151800911;ESP6500_GTC=13,357,6130;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001004432.2:c.*12C>T;ESP6500_MAF=0.2559,8.1971,2.9462;ESP6500_TAC=383,12617	GT:AD:DP:GQ:PL	0/1:23,13:36:99:286,0,616
chr1	151801375	rs61746299	T	A	1022.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.23;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=3.163;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=2.46;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61746299;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|LINGO4|LINGO4|transcript|NM_001004432.3|protein_coding|2/2|c.1330A>T|p.Thr444Ser|1556/2666|1330/1782|444/593||,A|downstream_gene_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding||c.*6097A>T|||||4696|,A|downstream_gene_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding||c.*6097A>T|||||4696|;p3_1000G_AA=T|||;p3_1000G_AC=902;p3_1000G_AF=0.180112;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=17711;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151773851;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=374,4032;ESP6500_AA_AGE=189.9+/-215.9;ESP6500_AA_GTC=15,344,1844;ESP6500_CDS_SIZES=NM_001004432.2:1782;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=88;ESP6500_EA_AC=22,8578;ESP6500_EA_AGE=15.3+/-51.7;ESP6500_EA_GTC=0,22,4278;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004432.2:missense;ESP6500_GL=LINGO4;ESP6500_GRCh38_POSITION=1:151801375;ESP6500_GS=58;ESP6500_GTC=15,366,6122;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004432.2:c.1330A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004432.2:p.(T444S);ESP6500_MAF=0.2558,8.4884,3.0447;ESP6500_PH=benign:0.083;ESP6500_TAC=396,12610	GT:AD:DP:GQ:PL	0/1:42,37:79:99:1051,0,1038
chr1	151811212	rs939595	A	C	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.34;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=0.349;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs939595;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|10/10|c.1395+113T>G||||||,C|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|9/9|c.1332+113T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3491;p3_1000G_AF=0.697085;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=18750;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151783688;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8241;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:218,0,135
chr1	151812812	rs2280472	A	G	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.854;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280472;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|9/10|c.1285+135T>C||||||,G|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|8/9|c.1222+135T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21778;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151785288;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:58:195,0,58
chr1	151814743	rs118043804	G	A	93.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.046;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=8.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=0.299;SOR=1.889;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs118043804;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|5/10|c.812-48C>T||||||,A|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|4/9|c.749-48C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=49;p3_1000G_AF=0.00978435;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18680;p3_1000G_EAS_AF=0.0476;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151787219;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_005060.3:1557,NM_001001523.1:1494;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=22;ESP6500_EA_AC=1,8597;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005060.3:intron,NM_001001523.1:intron;ESP6500_GL=RORC;ESP6500_GRCh38_POSITION=1:151814743;ESP6500_GTC=0,2,6500;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005060.3:c.812-48C>T,NM_001001523.1:c.749-48C>T;ESP6500_MAF=0.0116,0.0227,0.0154;ESP6500_TAC=2,13002	GT:AD:DP:GQ:PL	0/1:14,5:19:99:122,0,449
chr1	151817112	rs151171878	C	CTGTG	467.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=36.09;SOR=1.402;INS;HET;VARTYPE=INS;dbSNPBuildID=134;ANN=CTGTG|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|3/10|c.156+79_156+82dupCACA||||||,CTGTG|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|2/9|c.93+79_93+82dupCACA||||||;p3_1000G_AC=154;p3_1000G_AF=0.0307508;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=23751;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151789588;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:0,6:6:99:505,164,137
chr1	151817112	rs151171878	C	CTGTGTGTG	467.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=36.09;SOR=1.402;INS;HET;VARTYPE=INS;dbSNP138_ID=rs151171878;dbSNPBuildID=134;ANN=CTGTGTGTG|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|3/10|c.156+75_156+82dupCACACACA||||||,CTGTGTGTG|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|2/9|c.93+75_93+82dupCACACACA||||||;p3_1000G_AC=1955;p3_1000G_AF=0.390375;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=23751;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.4602;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151789588;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:0,3:3:99:505,253,235
chr1	151817133	rs56273334	C	T	501.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56273334;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|3/10|c.156+62G>A||||||,T|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|2/9|c.93+62G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=4807;p3_1000G_AF=0.959864;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16795;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151789609;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:151817133_C_T:530,36,0
chr1	151817135	rs55841824	C	T	501.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.72;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55841824;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|3/10|c.156+60G>A||||||,T|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|2/9|c.93+60G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=3933;p3_1000G_AF=0.785343;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.634;p3_1000G_AN=5008;p3_1000G_DP=16979;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.8767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151789611;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:151817133_C_T:530,36,0
chr1	151817171	rs12144914	T	G	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.802;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=1.04;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12144914;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|3/10|c.156+24A>C||||||,G|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|2/9|c.93+24A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1994;p3_1000G_AF=0.398163;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=19104;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151789647;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1350,3056;ESP6500_AA_AGE=448.8+/-348.8;ESP6500_AA_GTC=212,926,1065;ESP6500_CDS_SIZES=NM_005060.3:1557,NM_001001523.1:1494;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=102;ESP6500_EA_AC=4424,4176;ESP6500_EA_AGE=584.0+/-391.6;ESP6500_EA_GTC=1145,2134,1021;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005060.3:intron,NM_001001523.1:intron;ESP6500_GL=RORC;ESP6500_GRCh38_POSITION=1:151817171;ESP6500_GTC=1357,3060,2086;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_005060.3:c.156+24A>C,NM_001001523.1:c.93+24A>C;ESP6500_MAF=48.5581,30.64,44.3949;ESP6500_TAC=5774,7232	GT:AD:DP:GQ:PL	0/1:14,10:24:99:230,0,440
chr1	151825819	rs12030974	G	A	466.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.808;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.235;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.638;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12030974;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|RORC|RORC|transcript|NM_005060.3|protein_coding|2/10|c.70+3610C>T||||||,A|intron_variant|MODIFIER|RORC|RORC|transcript|NM_001001523.1|protein_coding|1/9|c.7+111C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1232;p3_1000G_AF=0.246006;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=18458;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151798295;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,19:34:99:495,0,334
chr1	151838750	rs6673556	G	A	225.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6673556;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|C2CD4D|C2CD4D|transcript|NM_001136003.1|protein_coding|2/2|c.240C>T|p.Cys80Cys|826/1713|240/1062|80/353||,A|intron_variant|MODIFIER|LOC100132111|LOC100132111|transcript|NR_024237.1|pseudogene|1/3|n.269+13G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4666;p3_1000G_AF=0.931709;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=7700;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151811226;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:254,24,0
chr1	151847215	rs779208648;rs869271016	AGGAGGCAGGAGGCAGGCAGGGGAGGCAGGAGGCAGGAGGCAGGCAGG	A	636.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.7;SOR=1.911;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144,147;ANN=A|3_prime_UTR_variant|MODIFIER|THEM5|THEM5|transcript|NM_182578.3|protein_coding|6/6|c.*109_*155delCCTGCCTGCCTCCTGCCTCCTGCCTCCCCTGCCTGCCTCCTGCCTCC|||||109|,A|downstream_gene_variant|MODIFIER|LOC100132111|LOC100132111|transcript|NR_024237.1|pseudogene||n.*3051_*3097delGGAGGCAGGAGGCAGGCAGGGGAGGCAGGAGGCAGGAGGCAGGCAGG|||||3051|	GT:AD:DP:GQ:PL	1/1:0,15:15:47:674,47,0
chr1	151847822	rs6587624	G	C	3343.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587624;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|THEM5|THEM5|transcript|NM_182578.3|protein_coding|5/6|c.616C>G|p.Leu206Val|748/1146|616/744|206/247||,C|downstream_gene_variant|MODIFIER|LOC100132111|LOC100132111|transcript|NR_024237.1|pseudogene||n.*3657G>C|||||3657|;p3_1000G_AA=C|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15515;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151820298;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4345,61;ESP6500_AA_AGE=58.1+/-94.6;ESP6500_AA_GTC=2143,59,1;ESP6500_CDS_SIZES=NM_182578.3:744;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=111;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182578.3:missense;ESP6500_GL=THEM5;ESP6500_GRCh38_POSITION=1:151847822;ESP6500_GS=32;ESP6500_GTC=6443,59,1;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_182578.3:c.616C>G;ESP6500_HGVS_PROTEIN_VAR=NM_182578.3:p.(L206V);ESP6500_MAF=0.0,1.3845,0.469;ESP6500_PH=benign:0.0;ESP6500_TAC=12945,61	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3372,318,0
chr1	151847848	rs6587625	T	C	3377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587625;dbSNPBuildID=116;ANN=C|structural_interaction_variant|HIGH|THEM5|THEM5|interaction|4AE7:A_146-A_197:NM_182578.3|protein_coding|5/6|c.590A>G||||||,C|missense_variant|MODERATE|THEM5|THEM5|transcript|NM_182578.3|protein_coding|5/6|c.590A>G|p.Asp197Gly|722/1146|590/744|197/247||,C|downstream_gene_variant|MODIFIER|LOC100132111|LOC100132111|transcript|NR_024237.1|pseudogene||n.*3683T>C|||||3683|;p3_1000G_AA=C|||;p3_1000G_AC=3896;p3_1000G_AF=0.777955;p3_1000G_AFR_AF=0.8752;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=15489;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151820324;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3782,624;ESP6500_AA_AGE=271.0+/-269.9;ESP6500_AA_GTC=1625,532,46;ESP6500_CDS_SIZES=NM_182578.3:744;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=91;ESP6500_EA_AC=6954,1646;ESP6500_EA_AGE=304.6+/-307.0;ESP6500_EA_GTC=2819,1316,165;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182578.3:missense;ESP6500_GL=THEM5;ESP6500_GRCh38_POSITION=1:151847848;ESP6500_GS=94;ESP6500_GTC=4444,1848,211;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_182578.3:c.590A>G;ESP6500_HGVS_PROTEIN_VAR=NM_182578.3:p.(D197G);ESP6500_MAF=19.1395,14.1625,17.4535;ESP6500_PH=benign:0.0;ESP6500_TAC=10736,2270	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3406,318,0
chr1	151853237	rs998500	G	C	646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs998500;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|THEM5|THEM5|transcript|NM_182578.3|protein_coding|1/5|c.123+206C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2534;p3_1000G_AF=0.50599;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=21474;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151825713;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:675,57,0
chr1	151853515	rs7556386	G	T	970.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7556386;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|THEM5|THEM5|transcript|NM_182578.3|protein_coding|1/6|c.51C>A|p.Gly17Gly|183/1146|51/744|17/247||;p3_1000G_AA=G|||;p3_1000G_AC=3138;p3_1000G_AF=0.626597;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=17329;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.6859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151825991;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3178,1228;ESP6500_AA_AGE=706.0+/-407.3;ESP6500_AA_GTC=1154,870,179;ESP6500_CDS_SIZES=NM_182578.3:744;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=106;ESP6500_EA_AC=5822,2778;ESP6500_EA_AGE=678.3+/-403.5;ESP6500_EA_GTC=1984,1854,462;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182578.3:coding-synonymous;ESP6500_GL=THEM5;ESP6500_GRCh38_POSITION=1:151853515;ESP6500_GTC=3138,2724,641;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_182578.3:c.51C>A;ESP6500_HGVS_PROTEIN_VAR=NM_182578.3:p.(G17);ESP6500_MAF=32.3023,27.8711,30.8012;ESP6500_TAC=9000,4006	GT:AD:DP:GQ:PL	1/1:0,32:32:96:999,96,0
chr1	151890185	rs1060870	G	A	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.758;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1060870;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|THEM4|THEM4|transcript|NM_053055.4|protein_coding|2/5|c.287-812C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2802;p3_1000G_AF=0.559505;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=15197;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.6044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151862661;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=756,628;ESP6500_AA_GTC=210,336,146;ESP6500_CDS_SIZES=NM_053055.4:723;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=80;ESP6500_EA_AC=1857,1325;ESP6500_EA_GTC=537,783,271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053055.4:intron;ESP6500_GL=THEM4;ESP6500_GRCh38_POSITION=1:151890185;ESP6500_GTC=747,1119,417;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_053055.4:c.287-812C>T;ESP6500_MAF=41.6405,45.3757,42.7727;ESP6500_TAC=2613,1953	GT:AD:DP:GQ:PL	0/1:9,12:21:99:304,0,172
chr1	151895084	rs3762427	G	A	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.743;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=59.64;MQRankSum=0.044;QD=9.6;ReadPosRankSum=-1.75;SOR=0.864;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762427;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|THEM4|THEM4|transcript|NM_053055.4|protein_coding|2/6|c.210C>T|p.Asp70Asp|637/5171|210/723|70/240||;p3_1000G_AA=A|||;p3_1000G_AC=4623;p3_1000G_AF=0.923123;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=18236;p3_1000G_EAS_AF=0.9504;p3_1000G_EUR_AF=0.9175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151867560;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4006,400;ESP6500_AA_AGE=198.7+/-222.5;ESP6500_AA_GTC=1820,366,17;ESP6500_CDS_SIZES=NM_053055.4:723;ESP6500_CG=-7.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=101;ESP6500_EA_AC=7845,751;ESP6500_EA_AGE=180.3+/-229.3;ESP6500_EA_GTC=3579,687,32;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053055.4:coding-synonymous;ESP6500_GL=THEM4;ESP6500_GRCh38_POSITION=1:151895084;ESP6500_GTC=5399,1053,49;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_053055.4:c.210C>T;ESP6500_HGVS_PROTEIN_VAR=NM_053055.4:p.(D70);ESP6500_MAF=8.7366,9.0785,8.8525;ESP6500_TAC=11851,1151	GT:AD:DP:GQ:PL	0/1:17,16:33:99:345,0,347
chr1	151909409	rs3748805	A	C	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.668;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=1.8;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748805;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|THEM4|THEM4|transcript|NM_053055.4|protein_coding|1/6|c.50T>G|p.Leu17Arg|477/5171|50/723|17/240||;p3_1000G_AA=C|||;p3_1000G_AC=4622;p3_1000G_AF=0.922923;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=8223;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.9155;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=151881885;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,7:21:99:150,0,339
chr1	152037054	rs3811422	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.44;ReadPosRankSum=1.15;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811422;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|S100A11|S100A11|transcript|NM_005620.1|protein_coding||c.-139A>G|||||19|,C|intergenic_region|MODIFIER|S100A11-LOC100131107|S100A11-LOC100131107|intergenic_region|S100A11-LOC100131107|||n.152037054T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=4386;p3_1000G_AF=0.875799;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=8415;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.9672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152009530;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:28:114,0,28
chr1	152107347	rs1131473	C	G	1345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=0.901;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-1.514;SOR=0.52;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1131473;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|TCHH|TCHH|transcript|NM_007113.3|protein_coding|3/3|c.*38G>C|||||38|;p3_1000G_AA=c|||;p3_1000G_AC=2355;p3_1000G_AF=0.470248;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=19429;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152079823;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP;ESP6500_AA_AC=1061,2801;ESP6500_AA_GTC=155,751,1025;ESP6500_CDS_SIZES=NM_007113.2:5832;ESP6500_CG=-9.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=115;ESP6500_EA_AC=3276,4982;ESP6500_EA_GTC=644,1988,1497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007113.2:utr-3;ESP6500_GL=TCHH;ESP6500_GRCh38_POSITION=1:152107347;ESP6500_GTC=799,2739,2522;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_007113.2:c.*38G>C;ESP6500_MAF=39.6706,27.4728,35.7838;ESP6500_TAC=4337,7783	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1374,0,1179
chr1	152107513	rs1131471	T	G	4940.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=143;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.55;SOR=0.825;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1131471;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|TCHH|TCHH|transcript|NM_007113.3|protein_coding|3/3|c.5704A>C|p.Lys1902Gln|5799/6995|5704/5832|1902/1943||;p3_1000G_AA=g|||;p3_1000G_AC=2895;p3_1000G_AF=0.578075;p3_1000G_AFR_AF=0.5136;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=18437;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152079989;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA_AC=1823,2107;ESP6500_AA_GTC=423,977,565;ESP6500_CDS_SIZES=NM_007113.2:5832;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=147;ESP6500_EA_AC=3641,4641;ESP6500_EA_GTC=801,2039,1301;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007113.2:missense;ESP6500_GL=TCHH;ESP6500_GRCh38_POSITION=1:152107513;ESP6500_GS=53;ESP6500_GTC=1224,3016,1866;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_007113.2:c.5704A>C;ESP6500_HGVS_PROTEIN_VAR=NM_007113.2:p.(K1902Q);ESP6500_MAF=43.9628,46.3868,44.7429;ESP6500_PH=benign:0.0;ESP6500_TAC=5464,6748	GT:AD:DP:GQ:PL	1/1:0,143:143:99:4969,429,0
chr1	152108587	rs769815193	CCTGGCGGCGCAGCTGCTGTTCCTCCTGGAGGAATTTTCTCTGCCGTTG	C	1101.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.22;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=2.994;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.609;SOR=1.044;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|conservative_inframe_deletion|MODERATE|TCHH|TCHH|transcript|NM_007113.3|protein_coding|3/3|c.4582_4629delCAACGGCAGAGAAAATTCCTCCAGGAGGAACAGCAGCTGCGCCGCCAG|p.Gln1528_Gln1543del|4724/6995|4582/5832|1528/1943||	GT:AD:DP:GQ:PL	0/1:50,31:81:99:1139,0,2571
chr1	152109225	rs147036704	C	G	1546.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=0.089;SOR=0.489;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147036704;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|TCHH|TCHH|transcript|NM_007113.3|protein_coding|3/3|c.3992G>C|p.Arg1331Pro|4087/6995|3992/5832|1331/1943||;p3_1000G_AA=C|||;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19367;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152081701;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,3795;ESP6500_AA_GTC=0,3,1896;ESP6500_CDS_SIZES=NM_007113.2:5832;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=134;ESP6500_EA_AC=0,8228;ESP6500_EA_GTC=0,0,4114;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007113.2:missense;ESP6500_GL=TCHH;ESP6500_GRCh38_POSITION=1:152109225;ESP6500_GS=103;ESP6500_GTC=0,3,6010;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_007113.2:c.3992G>C;ESP6500_HGVS_PROTEIN_VAR=NM_007113.2:p.(R1331P);ESP6500_MAF=0.0,0.079,0.0249;ESP6500_PH=benign:0.3;ESP6500_TAC=3,12023	GT:AD:DP:GQ:PL	0/1:35,51:86:99:1575,0,973
chr1	152109445	rs2496253	G	C	3868.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=112;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2496253;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|TCHH|TCHH|transcript|NM_007113.3|protein_coding|3/3|c.3772C>G|p.Leu1258Val|3867/6995|3772/5832|1258/1943||;p3_1000G_AA=C|||;p3_1000G_AC=2847;p3_1000G_AF=0.56849;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=20914;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152081921;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1788,2272;ESP6500_AA_GTC=383,1022,625;ESP6500_CDS_SIZES=NM_007113.2:5832;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=3671,4677;ESP6500_EA_GTC=810,2051,1313;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007113.2:missense;ESP6500_GL=TCHH;ESP6500_GRCh38_POSITION=1:152109445;ESP6500_GS=32;ESP6500_GTC=1193,3073,1938;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007113.2:c.3772C>G;ESP6500_HGVS_PROTEIN_VAR=NM_007113.2:p.(L1258V);ESP6500_MAF=43.9746,44.0394,43.9958;ESP6500_PH=benign:0.0;ESP6500_TAC=5459,6949	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3897,336,0
chr1	152112508	rs3134814	C	G	1385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.191;ClippingRankSum=0;DP=113;ExcessHet=3.0103;FS=0.703;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.18;SOR=0.817;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3134814;dbSNPBuildID=103;ANN=G|missense_variant|MODERATE|TCHH|TCHH|transcript|NM_007113.3|protein_coding|3/3|c.709G>C|p.Val237Leu|804/6995|709/5832|237/1943||;p3_1000G_AA=c|||;p3_1000G_AC=256;p3_1000G_AF=0.0511182;p3_1000G_AFR_AF=0.0794;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=19299;p3_1000G_EAS_AF=0.0308;p3_1000G_EUR_AF=0.0328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152084984;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP;ESP6500_AA_AC=283,3855;ESP6500_AA_GTC=11,261,1797;ESP6500_CDS_SIZES=NM_007113.2:5832;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=114;ESP6500_EA_AC=334,8058;ESP6500_EA_GTC=5,324,3867;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007113.2:missense;ESP6500_GL=TCHH;ESP6500_GRCh38_POSITION=1:152112508;ESP6500_GS=32;ESP6500_GTC=16,585,5664;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_007113.2:c.709G>C;ESP6500_HGVS_PROTEIN_VAR=NM_007113.2:p.(V237L);ESP6500_MAF=3.98,6.8391,4.9242;ESP6500_PH=benign:0.01;ESP6500_TAC=617,11913	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1414,0,1722
chr1	152113029	rs2515663	A	C	1504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2515663;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|TCHH|TCHH|transcript|NM_007113.3|protein_coding|3/3|c.188T>G|p.Leu63Arg|283/6995|188/5832|63/1943||;p3_1000G_AA=c|||;p3_1000G_AC=4954;p3_1000G_AF=0.989217;p3_1000G_AFR_AF=0.9614;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20099;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152085505;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA_AC=3634,116;ESP6500_AA_GTC=1762,110,3;ESP6500_CDS_SIZES=NM_007113.2:5832;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=8234,2;ESP6500_EA_GTC=4116,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007113.2:missense;ESP6500_GL=TCHH;ESP6500_GRCh38_POSITION=1:152113029;ESP6500_GS=102;ESP6500_GTC=5878,112,3;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_007113.2:c.188T>G;ESP6500_HGVS_PROTEIN_VAR=NM_007113.2:p.(L63R);ESP6500_MAF=0.0243,3.0933,0.9845;ESP6500_PH=benign:0.197;ESP6500_TAC=11868,118	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1533,147,0
chr1	152213286	rs41266112	C	G	2305.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.48;QD=32.78;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41266112;dbSNPBuildID=127;ANN=G|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8343G>C|p.Gln2781His|8422/9632|8343/8553|2781/2850||;p3_1000G_AA=C|||;p3_1000G_AC=2810;p3_1000G_AF=0.561102;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=13701;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152185762;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2547,1859;ESP6500_AA_AGE=618.2+/-393.1;ESP6500_AA_GTC=763,1021,419;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=74;ESP6500_EA_AC=7112,1488;ESP6500_EA_AGE=732.4+/-406.8;ESP6500_EA_GTC=2967,1178,155;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152213286;ESP6500_GS=24;ESP6500_GTC=3730,2199,574;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.8343G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(Q2781H);ESP6500_MAF=17.3023,42.1925,25.7343;ESP6500_PH=probably-damaging:0.968;ESP6500_TAC=9659,3347	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,52:52:99:1|1:152213286_C_G:2334,157,0
chr1	152213292	rs41266114	T	G	2263.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.38;QD=30.64;SOR=0.733;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41266114;dbSNPBuildID=127;ANN=G|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8337A>C|p.Ser2779Ser|8416/9632|8337/8553|2779/2850||;ESP6500_AA=T;ESP6500_AA_AC=2290,2116;ESP6500_AA_GTC=736,818,649;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=64;ESP6500_EA_AC=6846,1742;ESP6500_EA_GTC=2922,1002,370;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152213292;ESP6500_GTC=3658,1820,1019;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.8337A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(S2779);ESP6500_MAF=20.2841,48.0254,29.6906;ESP6500_TAC=9136,3858	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,49:49:99:1|1:152213286_C_G:2292,154,0
chr1	152213298	rs61814932	A	G	2131.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.2;QD=35.32;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61814932;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8331T>C|p.Ser2777Ser|8410/9632|8331/8553|2777/2850||;p3_1000G_AA=A|||;p3_1000G_AC=2789;p3_1000G_AF=0.556909;p3_1000G_AFR_AF=0.5212;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=11901;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152185774;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,44:44:99:1|1:152213286_C_G:2160,144,0
chr1	152213304	rs41266116	G	A	1906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.16;QD=33.1;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41266116;dbSNPBuildID=127;ANN=A|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8325C>T|p.His2775His|8404/9632|8325/8553|2775/2850||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:152213286_C_G:1935,129,0
chr1	152213314	rs76102381	T	C	1591.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.43;QD=30.47;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76102381;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8315A>G|p.His2772Arg|8394/9632|8315/8553|2772/2850||;p3_1000G_AA=T|||;p3_1000G_AC=1617;p3_1000G_AF=0.322883;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=10007;p3_1000G_EAS_AF=0.1478;p3_1000G_EUR_AF=0.6769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152185790;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,31:31:99:1|1:152213286_C_G:1620,108,0
chr1	152213316	rs74493243	G	A	1366.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.34;QD=34.22;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs74493243;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8313C>T|p.Ser2771Ser|8392/9632|8313/8553|2771/2850||;p3_1000G_AA=G|||;p3_1000G_AC=1617;p3_1000G_AF=0.322883;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=9243;p3_1000G_EAS_AF=0.1478;p3_1000G_EUR_AF=0.6769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152185792;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:93:1|1:152213286_C_G:1395,93,0
chr1	152213320	rs41266118	A	G	1231.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.92;QD=28.32;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41266118;dbSNPBuildID=127;ANN=G|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8309T>C|p.Leu2770Pro|8388/9632|8309/8553|2770/2850||;p3_1000G_AA=A|||;p3_1000G_AC=1617;p3_1000G_AF=0.322883;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=9031;p3_1000G_EAS_AF=0.1478;p3_1000G_EUR_AF=0.6769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152185796;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:84:1|1:152213286_C_G:1260,84,0
chr1	152213336	rs760437151	C	CAG	592.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.42;QD=25.68;SOR=0.859;INS;HOM;VARTYPE=INS;dbSNPBuildID=144;ANN=CAG|frameshift_variant|HIGH|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8291_8292dupCT|p.Gly2765fs|8371/9632|8292/8553|2764/2850||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:42:1|1:152213286_C_G:630,42,0
chr1	152213341	rs768388262	CCA	C	322.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.42;QD=32.13;SOR=1.863;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|frameshift_variant|HIGH|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8286_8287delTG|p.His2762fs|8366/9632|8286/8553|2762/2850||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:152213286_C_G:360,24,0
chr1	152213347	rs41266120	C	T	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.6;QD=27.65;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41266120;dbSNPBuildID=127;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.8282G>A|p.Arg2761Gln|8361/9632|8282/8553|2761/2850||;p3_1000G_AA=T|||;p3_1000G_AC=924;p3_1000G_AF=0.184505;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=7581;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.4284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152185823;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:18:1|1:152213286_C_G:270,18,0
chr1	152213665	rs41266128	C	T	1528.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.776;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.865;MLEAC=2;MLEAF=1;MQ=32.74;MQRankSum=1.43;QD=27.3;ReadPosRankSum=-0.529;SOR=0.89;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41266128;dbSNPBuildID=127;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.7964G>A|p.Arg2655His|8043/9632|7964/8553|2655/2850||	GT:AD:DP:GQ:PL	1/1:1,55:56:99:1557,139,0
chr1	152213702	rs4845748	C	T	967.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.765;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=6.532;MLEAC=2;MLEAF=1;MQ=27.98;MQRankSum=1.3;QD=26.88;ReadPosRankSum=-1.172;SOR=2.595;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845748;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.7927G>A|p.Gly2643Ser|8006/9632|7927/8553|2643/2850||;p3_1000G_AA=C|||;p3_1000G_AC=2020;p3_1000G_AF=0.403355;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=25100;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.6342;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152186178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4008;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,35:36:79:996,79,0
chr1	152213746	rs4845424	T	C	537.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.09;QD=28.3;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845424;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.7883A>G|p.His2628Arg|7962/9632|7883/8553|2628/2850||;p3_1000G_AA=C|||;p3_1000G_AC=1801;p3_1000G_AF=0.359625;p3_1000G_AFR_AF=0.2685;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=18586;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.6561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152186222;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:566,57,0
chr1	152213941	rs150508178	C	G	30.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.844;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=24.6;MQRankSum=-0.244;QD=0.79;ReadPosRankSum=-0.96;SOR=0.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150508178;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.7688G>C|p.Ser2563Thr|7767/9632|7688/8553|2563/2850||	GT:AD:DP:GQ:PL	0/1:33,6:39:59:59,0,833
chr1	152213967	rs140336724	A	G	40.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.96;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=24.53;MQRankSum=0.858;QD=0.89;ReadPosRankSum=0.019;SOR=0.156;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140336724;dbSNPBuildID=134;ANN=G|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.7662T>C|p.His2554His|7741/9632|7662/8553|2554/2850||	GT:AD:DP:GQ:PL	0/1:39,7:46:69:69,0,1064
chr1	152214290	rs4845747	G	A	2476.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-9.009;ClippingRankSum=0;DP=622;ExcessHet=3.0103;FS=7.144;MLEAC=1;MLEAF=0.5;MQ=31.89;MQRankSum=0.978;QD=3.98;ReadPosRankSum=2.57;SOR=0.747;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845747;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.7339C>T|p.Arg2447Cys|7418/9632|7339/8553|2447/2850||	GT:AD:DP:GQ:PL	0/1:459,163:622:99:2505,0,11250
chr1	152214593	rs753301905	A	G	478.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.77;ClippingRankSum=0;DP=887;ExcessHet=3.0103;FS=0.833;MLEAC=1;MLEAF=0.5;MQ=40.04;MQRankSum=-4.022;QD=0.54;ReadPosRankSum=-1.178;SOR=0.842;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.7036T>C|p.Ser2346Pro|7115/9632|7036/8553|2346/2850||	GT:AD:DP:GQ:PL	0/1:777,107:884:99:507,0,19857
chr1	152214707	rs12126691	C	A	2552.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.38;ClippingRankSum=0;DP=437;ExcessHet=3.0103;FS=0.716;MLEAC=1;MLEAF=0.5;MQ=34.65;MQRankSum=-0.352;QD=5.84;ReadPosRankSum=1.05;SOR=0.823;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138393387;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6922G>T|p.Gly2308Cys|7001/9632|6922/8553|2308/2850||	GT:AD:DP:GQ:PL	0/1:311,126:437:99:2581,0,8328
chr1	152214821	rs12116427	T	A	403.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=7.27;ClippingRankSum=0;DP=129;ExcessHet=3.0103;FS=38.757;MLEAC=1;MLEAF=0.5;MQ=28.1;MQRankSum=1.83;QD=3.13;ReadPosRankSum=-3.78;SOR=5.421;SNP;HET;VARTYPE=SNP;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6808A>T|p.Thr2270Ser|6887/9632|6808/8553|2270/2850||	GT:AD:DP:GQ:PGT:PID:PL	0/1:110,19:129:99:0|1:152214821_T_A:432,0,26384
chr1	152214826	rs746911441	GATCC	G	365.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.015;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=37.853;MLEAC=1;MLEAF=0.5;MQ=27.91;MQRankSum=1.64;QD=2.95;ReadPosRankSum=-4.643;SOR=5.452;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|frameshift_variant|HIGH|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6799_6802delGGAT|p.Gly2267fs|6881/9632|6799/8553|2267/2850||;LOF=(HRNR|HRNR|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:108,16:124:99:0|1:152214821_T_A:403,0,27130
chr1	152214834	rs776354084	C	CATGT	315.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.86;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=42.047;MLEAC=1;MLEAF=0.5;MQ=27.92;MQRankSum=1.69;QD=2.61;SOR=5.633;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=CATGT|frameshift_variant|HIGH|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6794_6795insACAT|p.Glu2266fs|6873/9632|6794/8553|2265/2850||;LOF=(HRNR|HRNR|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:105,16:121:99:0|1:152214821_T_A:353,0,27125
chr1	152214838	rs747830959	T	C	66.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.15;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=25.388;MLEAC=1;MLEAF=0.5;MQ=27.75;MQRankSum=1.99;QD=0.61;ReadPosRankSum=-4.636;SOR=4.613;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6791A>G|p.Asp2264Gly|6870/9632|6791/8553|2264/2850||	GT:AD:DP:GQ:PGT:PID:PL	0/1:101,9:110:95:0|1:152214821_T_A:95,0,27224
chr1	152214841	rs769619529	A	C	18.82	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=16.587;MLEAC=1;MLEAF=0.5;MQ=27.39;MQRankSum=1.55;QD=0.18;ReadPosRankSum=-3.567;SOR=3.602;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6788T>G|p.Phe2263Cys|6867/9632|6788/8553|2263/2850||	GT:AD:DP:GQ:PGT:PID:PL	0/1:100,5:105:47:0|1:152214821_T_A:47,0,26959
chr1	152215078	rs61814935	C	T	188.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.55;ClippingRankSum=0;DP=335;ExcessHet=3.0103;FS=1.366;MLEAC=1;MLEAF=0.5;MQ=29.94;MQRankSum=-0.268;QD=0.56;ReadPosRankSum=-0.164;SOR=0.851;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814935;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6551G>A|p.Ser2184Asn|6630/9632|6551/8553|2184/2850||	GT:AD:DP:GQ:PL	0/1:292,43:335:99:217,0,7713
chr1	152215086	rs61814936	A	C	10556.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=325;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.96;QD=32.48;SOR=1.722;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61814936;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6543T>G|p.His2181Gln|6622/9632|6543/8553|2181/2850||;p3_1000G_AA=a|||;p3_1000G_AC=4811;p3_1000G_AF=0.960663;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=21017;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152187562;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,325:325:99:10585,982,0
chr1	152215334	rs74336774	G	A	1102.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24.38;QD=28.28;SOR=1.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs145371085;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6295C>T|p.Pro2099Ser|6374/9632|6295/8553|2099/2850||	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1131,117,0
chr1	152215459	rs61814938	C	T	793.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.23;ClippingRankSum=0;DP=163;ExcessHet=3.0103;FS=49.147;MLEAC=1;MLEAF=0.5;MQ=36.08;MQRankSum=2.95;QD=4.87;ReadPosRankSum=-6.523;SOR=4.406;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814938;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6170G>A|p.Arg2057Gln|6249/9632|6170/8553|2057/2850||	GT:AD:DP:GQ:PGT:PID:PL	0/1:135,28:163:99:0|1:152215459_C_T:822,0,6536
chr1	152215469	rs61814939	C	T	1116.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.879;ClippingRankSum=0;DP=185;ExcessHet=3.0103;FS=35.41;MLEAC=1;MLEAF=0.5;MQ=37.28;MQRankSum=3.03;QD=6.04;ReadPosRankSum=-3.881;SOR=2.925;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814939;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.6160G>A|p.Gly2054Ser|6239/9632|6160/8553|2054/2850||	GT:AD:DP:GQ:PGT:PID:PL	0/1:143,42:185:99:0|1:152215459_C_T:1145,0,6697
chr1	152215633	rs61814940	T	A	2400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.576;ClippingRankSum=0;DP=433;ExcessHet=3.0103;FS=35.582;MLEAC=1;MLEAF=0.5;MQ=41.04;MQRankSum=-5.41;QD=5.54;ReadPosRankSum=1.5;SOR=0.901;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814940;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.5996A>T|p.Gln1999Leu|6075/9632|5996/8553|1999/2850||	GT:AD:DP:GQ:PL	0/1:315,118:433:99:2429,0,9302
chr1	152215700	rs77464974	G	A	2929.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=636;ExcessHet=3.0103;FS=3.13;MLEAC=1;MLEAF=0.5;MQ=42.07;MQRankSum=-8.412;QD=4.62;ReadPosRankSum=-2.999;SOR=0.996;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147618491;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.5929C>T|p.Arg1977Cys|6008/9632|5929/8553|1977/2850||	GT:AD:DP:GQ:PL	0/1:478,156:634:99:2958,0,12247
chr1	152215987	rs61814941	G	A	3408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.569;ClippingRankSum=0;DP=1107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.26;MQRankSum=-5.99;QD=3.08;ReadPosRankSum=0.186;SOR=0.766;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814941;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.5642C>T|p.Ser1881Phe|5721/9632|5642/8553|1881/2850||;ESP6500_AA=G;ESP6500_AA_AC=370,3966;ESP6500_AA_GTC=0,370,1798;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=649;ESP6500_EA_AC=1303,7291;ESP6500_EA_GTC=0,1303,2994;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152215987;ESP6500_GS=155;ESP6500_GTC=0,1673,4792;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.5642C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(S1881F);ESP6500_MAF=15.1617,8.5332,12.9389;ESP6500_PH=benign:0.21;ESP6500_TAC=1673,11257	GT:AD:DP:GQ:PL	0/1:887,218:1105:99:3437,0,24909
chr1	152216444	rs61814942	C	T	886.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.905;ClippingRankSum=0;DP=539;ExcessHet=3.0103;FS=1.507;MLEAC=1;MLEAF=0.5;MQ=30.59;MQRankSum=-0.678;QD=1.65;ReadPosRankSum=1.89;SOR=0.728;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814942;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.5185G>A|p.Gly1729Ser|5264/9632|5185/8553|1729/2850||	GT:AD:DP:GQ:PL	0/1:446,93:539:99:915,0,10905
chr1	152216485	rs76879172	C	T	524.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.995;ClippingRankSum=0;DP=525;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.37;MQRankSum=0.547;QD=1;ReadPosRankSum=0.952;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76879172;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.5144G>A|p.Arg1715His|5223/9632|5144/8553|1715/2850||	GT:AD:DP:GQ:PL	0/1:446,79:525:99:553,0,11181
chr1	152216522	rs80018286	C	T	3475.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.824;ClippingRankSum=0;DP=391;ExcessHet=3.0103;FS=14.196;MLEAC=1;MLEAF=0.5;MQ=30.19;MQRankSum=0.636;QD=8.89;ReadPosRankSum=0.159;SOR=1.338;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80018286;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.5107G>A|p.Gly1703Ser|5186/9632|5107/8553|1703/2850||	GT:AD:DP:GQ:PL	0/1:232,159:391:99:3504,0,5504
chr1	152216579	rs4845749	G	C	4666.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=155;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.36;QD=30.3;SOR=7.864;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845749;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.5050C>G|p.Arg1684Gly|5129/9632|5050/8553|1684/2850||	GT:AD:DP:GQ:PL	1/1:0,154:154:99:4695,465,0
chr1	152217976	rs140247939	T	C	30.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=15.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs140247939;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.3653A>G|p.His1218Arg|3732/9632|3653/8553|1218/2850||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:152217976_T_C:58,6,0
chr1	152218001	rs79524280	C	T	21.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=27.33;MQRankSum=0.967;QD=3.63;ReadPosRankSum=-1.834;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200854195;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.3628G>A|p.Gly1210Arg|3707/9632|3628/8553|1210/2850||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:50:1|0:152217976_T_C:50,0,129
chr1	152218244	rs7514457	C	T	2276.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=28.08;QD=30.77;SOR=8.635;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7514457;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.3385G>A|p.Gly1129Ser|3464/9632|3385/8553|1129/2850||;p3_1000G_AA=C|||;p3_1000G_AC=2711;p3_1000G_AF=0.541334;p3_1000G_AFR_AF=0.5166;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=25759;p3_1000G_EAS_AF=0.3423;p3_1000G_EUR_AF=0.8062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152190720;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2305,222,0
chr1	152219013	rs564308462	A	G	1673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.061;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=2.386;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-1.079;SOR=0.862;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.2616T>C|p.Ser872Ser|2695/9632|2616/8553|872/2850||;p3_1000G_AA=A|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21424;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152191489;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1702,0,1450
chr1	152219233	rs6662450	C	G	3865.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=112;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=0.97;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6662450;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.2396G>C|p.Ser799Thr|2475/9632|2396/8553|799/2850||;p3_1000G_AA=C|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.4682;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=20827;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152191709;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2307,2099;ESP6500_AA_AGE=600.6+/-389.5;ESP6500_AA_GTC=610,1087,506;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=7140,1460;ESP6500_EA_AGE=750.1+/-407.4;ESP6500_EA_GTC=2964,1212,124;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152219233;ESP6500_GS=58;ESP6500_GTC=3574,2299,630;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.2396G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(S799T);ESP6500_MAF=16.9767,47.6396,27.3643;ESP6500_PH=benign:0.334;ESP6500_TAC=9447,3559	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3894,336,0
chr1	152219403	rs10788828	G	A	5499.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=181;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=0.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10788828;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.2226C>T|p.His742His|2305/9632|2226/8553|742/2850||;p3_1000G_AA=g|||;p3_1000G_AC=2805;p3_1000G_AF=0.560104;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=22420;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152191879;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2594,1812;ESP6500_AA_GTC=769,1056,378;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=191;ESP6500_EA_AC=7146,1454;ESP6500_EA_GTC=2970,1206,124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152219403;ESP6500_GTC=3739,2262,502;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.2226C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(H742);ESP6500_MAF=16.907,41.1257,25.1115;ESP6500_TAC=9740,3266	GT:AD:DP:GQ:PL	1/1:0,181:181:99:5528,542,0
chr1	152219638	rs7520249	C	T	5430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.295;ClippingRankSum=0;DP=228;ExcessHet=3.0103;FS=10.513;MLEAC=1;MLEAF=0.5;MQ=58.04;MQRankSum=12.84;QD=23.92;ReadPosRankSum=7.44;SOR=0.305;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7520249;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1991G>A|p.Arg664Gln|2070/9632|1991/8553|664/2850||;p3_1000G_AA=c|||;p3_1000G_AC=2802;p3_1000G_AF=0.559505;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=21409;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152192114;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,194:227:99:5459,0,486
chr1	152219687	rs61814943	G	T	654.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.234;ClippingRankSum=0;DP=226;ExcessHet=3.0103;FS=1.318;MLEAC=1;MLEAF=0.5;MQ=56.71;MQRankSum=-10.43;QD=2.9;ReadPosRankSum=4.67;SOR=0.571;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814943;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1942C>A|p.Arg648Ser|2021/9632|1942/8553|648/2850||	GT:AD:DP:GQ:PL	0/1:182,44:226:99:683,0,5428
chr1	152219743	rs79513582	G	C	671.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.731;ClippingRankSum=0;DP=245;ExcessHet=3.0103;FS=2.069;MLEAC=1;MLEAF=0.5;MQ=53.95;MQRankSum=-6.947;QD=2.74;ReadPosRankSum=-0.009;SOR=0.539;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79513582;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1886C>G|p.Thr629Ser|1965/9632|1886/8553|629/2850||	GT:AD:DP:GQ:PL	0/1:201,44:245:99:700,0,6307
chr1	152219817	rs7520375	C	T	6683.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=209;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.74;QD=32.13;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7520375;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1812G>A|p.Ser604Ser|1891/9632|1812/8553|604/2850||;p3_1000G_AA=c|||;p3_1000G_AC=2750;p3_1000G_AF=0.549121;p3_1000G_AFR_AF=0.5272;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=21851;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152192293;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2533,1873;ESP6500_AA_GTC=769,995,439;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=234;ESP6500_EA_AC=7096,1494;ESP6500_EA_GTC=2963,1170,162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152219817;ESP6500_GTC=3732,2165,601;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.1812G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(S604);ESP6500_MAF=17.3923,42.5102,25.908;ESP6500_TAC=9629,3367	GT:AD:DP:GQ:PL	1/1:0,208:208:99:6712,624,0
chr1	152219919	rs61814946	G	A	2526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.872;ClippingRankSum=0;DP=200;ExcessHet=3.0103;FS=4.909;MLEAC=1;MLEAF=0.5;MQ=59.26;MQRankSum=-0.904;QD=12.7;ReadPosRankSum=-1.17;SOR=0.535;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61814946;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1710C>T|p.Ser570Ser|1789/9632|1710/8553|570/2850||;p3_1000G_AA=g|||;p3_1000G_AC=474;p3_1000G_AF=0.0946486;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=20660;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.1322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152192395;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=125,4281;ESP6500_AA_GTC=0,125,2078;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=181;ESP6500_EA_AC=1267,7333;ESP6500_EA_GTC=107,1053,3140;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152219919;ESP6500_GTC=107,1178,5218;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.1710C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(S570);ESP6500_MAF=14.7326,2.837,10.7028;ESP6500_TAC=1392,11614	GT:AD:DP:GQ:PL	0/1:107,92:199:99:2555,0,3124
chr1	152220155	rs6587647	C	T	8038.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=254;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.77;SOR=0.75;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587647;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1474G>A|p.Gly492Arg|1553/9632|1474/8553|492/2850||;p3_1000G_AA=C|||;p3_1000G_AC=2804;p3_1000G_AF=0.559904;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=23872;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152192631;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2594,1812;ESP6500_AA_AGE=638.5+/-396.9;ESP6500_AA_GTC=769,1056,378;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=295;ESP6500_EA_AC=7147,1453;ESP6500_EA_AGE=751.1+/-407.4;ESP6500_EA_GTC=2970,1207,123;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152220155;ESP6500_GS=125;ESP6500_GTC=3739,2263,501;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.1474G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(G492R);ESP6500_MAF=16.8953,41.1257,25.1038;ESP6500_PH=benign:0.105;ESP6500_TAC=9741,3265	GT:AD:DP:GQ:PL	1/1:0,253:253:99:8067,759,0
chr1	152220211	rs6587648	T	C	7476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=217;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=0.916;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587648;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1418A>G|p.Glu473Gly|1497/9632|1418/8553|473/2850||;p3_1000G_AA=C|||;p3_1000G_AC=4720;p3_1000G_AF=0.942492;p3_1000G_AFR_AF=0.7905;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=23458;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152192687;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3763,643;ESP6500_AA_AGE=276.9+/-273.4;ESP6500_AA_GTC=1605,553,45;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=244;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152220211;ESP6500_GS=98;ESP6500_GTC=5902,556,45;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.1418A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(E473G);ESP6500_MAF=0.0349,14.5937,4.9669;ESP6500_PH=benign:0.0;ESP6500_TAC=12360,646	GT:AD:DP:GQ:PL	1/1:0,216:216:99:7505,648,0
chr1	152220349	rs6666097	C	T	2416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.725;ClippingRankSum=0;DP=135;ExcessHet=3.0103;FS=11.389;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=-0.801;QD=17.9;ReadPosRankSum=-0.111;SOR=1.581;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6666097;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1280G>A|p.Gly427Asp|1359/9632|1280/8553|427/2850||;p3_1000G_AA=C|||;p3_1000G_AC=1730;p3_1000G_AF=0.345447;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=21348;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.5855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152192825;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1145,3261;ESP6500_AA_AGE=406.0+/-333.7;ESP6500_AA_GTC=150,845,1208;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=5083,3517;ESP6500_EA_AGE=632.4+/-398.6;ESP6500_EA_GTC=1502,2079,719;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152220349;ESP6500_GS=94;ESP6500_GTC=1652,2924,1927;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.1280G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(G427D);ESP6500_MAF=40.8953,25.9873,47.8856;ESP6500_PH=possibly-damaging:0.895;ESP6500_TAC=6228,6778	GT:AD:DP:GQ:PL	0/1:54,81:135:99:2445,0,1631
chr1	152220502	rs6587649	T	C	5184.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=161;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.96;QD=32.2;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587649;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1127A>G|p.Gln376Arg|1206/9632|1127/8553|376/2850||;p3_1000G_AA=t|||;p3_1000G_AC=4719;p3_1000G_AF=0.942292;p3_1000G_AFR_AF=0.7905;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=23011;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152192978;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3763,643;ESP6500_AA_AGE=766.2+/-413.4;ESP6500_AA_GTC=1605,553,45;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-8.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=163;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=819.1+/-406.8;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152220502;ESP6500_GS=43;ESP6500_GTC=5902,556,45;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.1127A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(Q376R);ESP6500_MAF=0.0349,14.5937,4.9669;ESP6500_PH=benign:0.0;ESP6500_TAC=12360,646	GT:AD:DP:GQ:PL	1/1:0,161:161:99:5213,482,0
chr1	152220576	rs6587650	A	G	5759.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=173;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587650;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.1053T>C|p.His351His|1132/9632|1053/8553|351/2850||;p3_1000G_AA=G|||;p3_1000G_AC=4581;p3_1000G_AF=0.914736;p3_1000G_AFR_AF=0.6891;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=22106;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152193052;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3332,1074;ESP6500_AA_AGE=722.0+/-409.2;ESP6500_AA_GTC=1253,826,124;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=116;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=818.8+/-406.8;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152220576;ESP6500_GTC=5548,831,124;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.1053T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(H351);ESP6500_MAF=0.0581,24.3759,8.2962;ESP6500_TAC=11927,1079	GT:AD:DP:GQ:PL	1/1:0,173:173:99:5788,519,0
chr1	152220645	rs6587651	G	T	6061.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=188;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.59;ReadPosRankSum=-0.57;SOR=0.427;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587651;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.984C>A|p.Gly328Gly|1063/9632|984/8553|328/2850||;p3_1000G_AA=G|||;p3_1000G_AC=2751;p3_1000G_AF=0.549321;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=20859;p3_1000G_EAS_AF=0.3304;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152193121;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2589,1817;ESP6500_AA_AGE=636.4+/-396.6;ESP6500_AA_GTC=768,1053,382;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=81;ESP6500_EA_AC=7147,1453;ESP6500_EA_AGE=750.5+/-407.4;ESP6500_EA_GTC=2970,1207,123;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152220645;ESP6500_GTC=3738,2260,505;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.984C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(G328);ESP6500_MAF=16.8953,41.2392,25.1422;ESP6500_TAC=9736,3270	GT:AD:DP:GQ:PL	1/1:1,185:186:99:6090,548,0
chr1	152220810	rs7545406	G	T	3872.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.921;ClippingRankSum=0;DP=259;ExcessHet=3.0103;FS=5.81;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-0.777;SOR=0.475;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7545406;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.819C>A|p.His273Gln|898/9632|819/8553|273/2850||;p3_1000G_AA=G|||;p3_1000G_AC=1732;p3_1000G_AF=0.345847;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=21880;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.5855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152193286;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1161,3245;ESP6500_AA_AGE=410.0+/-335.2;ESP6500_AA_GTC=154,853,1196;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=292;ESP6500_EA_AC=5083,3517;ESP6500_EA_AGE=632.9+/-398.7;ESP6500_EA_GTC=1502,2079,719;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152220810;ESP6500_GS=24;ESP6500_GTC=1656,2932,1915;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.819C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(H273Q);ESP6500_MAF=40.8953,26.3504,48.0086;ESP6500_PH=benign:0.001;ESP6500_TAC=6244,6762	GT:AD:DP:GQ:PL	0/1:123,135:258:99:3901,0,3606
chr1	152220815	rs6587652	G	T	10463.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=260;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=0.858;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587652;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.814C>A|p.Arg272Arg|893/9632|814/8553|272/2850||;p3_1000G_AA=G|||;p3_1000G_AC=2805;p3_1000G_AF=0.560104;p3_1000G_AFR_AF=0.5295;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=21934;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152193291;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2592,1814;ESP6500_AA_AGE=638.2+/-396.9;ESP6500_AA_GTC=768,1056,379;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=297;ESP6500_EA_AC=7147,1453;ESP6500_EA_AGE=751.1+/-407.4;ESP6500_EA_GTC=2970,1207,123;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152220815;ESP6500_GTC=3738,2263,502;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.814C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(R272);ESP6500_MAF=16.8953,41.1711,25.1192;ESP6500_TAC=9739,3267	GT:AD:DP:GQ:PL	1/1:0,260:260:99:10492,800,0
chr1	152221068	rs7535536	A	G	3986.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.83;SOR=1.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7535536;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.561T>C|p.His187His|640/9632|561/8553|187/2850||;p3_1000G_AA=A|||;p3_1000G_AC=2664;p3_1000G_AF=0.531949;p3_1000G_AFR_AF=0.469;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=20779;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152193544;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2309,2097;ESP6500_AA_AGE=597.8+/-388.9;ESP6500_AA_GTC=611,1087,505;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=77;ESP6500_EA_AC=7140,1460;ESP6500_EA_AGE=749.4+/-407.4;ESP6500_EA_GTC=2964,1212,124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152221068;ESP6500_GTC=3575,2299,629;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.561T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(H187);ESP6500_MAF=16.9767,47.5942,27.3489;ESP6500_TAC=9449,3557	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,89:89:99:1|1:152221068_A_G:4015,271,0
chr1	152221071	rs6587653	G	A	4024.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=1.557;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587653;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.558C>T|p.Ser186Ser|637/9632|558/8553|186/2850||;p3_1000G_AA=G|||;p3_1000G_AC=4719;p3_1000G_AF=0.942292;p3_1000G_AFR_AF=0.7905;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=20759;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152193547;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3763,643;ESP6500_AA_AGE=762.1+/-413.1;ESP6500_AA_GTC=1605,553,45;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=817.9+/-406.9;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:coding-synonymous;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152221071;ESP6500_GTC=5902,556,45;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.558C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(S186);ESP6500_MAF=0.0349,14.5937,4.9669;ESP6500_TAC=12360,646	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,89:89:99:1|1:152221068_A_G:4053,274,0
chr1	152221375	rs11204937	C	T	1852.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11204937;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|3/3|c.254G>A|p.Arg85His|333/9632|254/8553|85/2850||;p3_1000G_AA=C|||;p3_1000G_AC=2667;p3_1000G_AF=0.532548;p3_1000G_AFR_AF=0.4705;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=21109;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152193851;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2310,2096;ESP6500_AA_AGE=601.9+/-389.8;ESP6500_AA_GTC=612,1086,505;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=129;ESP6500_EA_AC=7139,1461;ESP6500_EA_AGE=750.5+/-407.4;ESP6500_EA_GTC=2963,1213,124;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009931.1:missense;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152221375;ESP6500_GS=29;ESP6500_GTC=3575,2299,629;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.254G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001009931.1:p.(R85H);ESP6500_MAF=16.9884,47.5715,27.3489;ESP6500_PH=benign:0.0;ESP6500_TAC=9449,3557	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1881,183,0
chr1	152221514	rs11204938	A	G	732.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11204938;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|2/2|c.139-24T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2664;p3_1000G_AF=0.531949;p3_1000G_AFR_AF=0.469;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=20892;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152193990;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2307,2097;ESP6500_AA_GTC=612,1083,507;ESP6500_CDS_SIZES=NM_001009931.1:8553;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=7129,1461;ESP6500_EA_GTC=2967,1195,133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009931.1:intron;ESP6500_GL=HRNR;ESP6500_GRCh38_POSITION=1:152221514;ESP6500_GTC=3579,2278,640;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001009931.1:c.139-24T>C;ESP6500_MAF=17.0081,47.6158,27.3819;ESP6500_TAC=9436,3558	GT:AD:DP:GQ:PL	1/1:0,21:21:63:761,63,0
chr1	152223252	rs34061715;rs397824794;rs530205886	AT	A	744.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=24.02;ReadPosRankSum=0.566;SOR=1.402;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34061715;dbSNPBuildID=134,142,138;ANN=A|frameshift_variant&start_lost|HIGH|HRNR|HRNR|transcript|NM_001009931.2|protein_coding|2/3|c.1delA|p.Met1fs|80/9632|1/8553|1/2850||,A|sequence_feature|LOW|HRNR|HRNR|miscellaneous-region:S-100-like|NM_001009931.2|protein_coding|2/3|c.1delA||||||;LOF=(HRNR|HRNR|1|1.00)	GT:AD:DP:GQ:PL	1/1:2,29:31:42:782,42,0
chr1	152304327	rs80088153	T	G	2946.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=206;ExcessHet=3.0103;FS=9.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.525;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80088153;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|FLG|FLG|transcript|NM_002016.1|protein_coding|3/3|c.10559A>C|p.Gln3520Pro|10595/12747|10559/12186|3520/4061||;p3_1000G_AA=T|||;p3_1000G_AC=49;p3_1000G_AF=0.00978435;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20344;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152276803;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:97,109:206:99:2975,0,2558
chr1	152305958	rs61816760	T	G	383.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.68;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.509;MLEAC=1;MLEAF=0.5;MQ=37.96;MQRankSum=1.93;QD=7.52;ReadPosRankSum=-0.55;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61816760;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|FLG|FLG|transcript|NM_002016.1|protein_coding|3/3|c.8928A>C|p.Glu2976Asp|8964/12747|8928/12186|2976/4061||;p3_1000G_AA=t|||;p3_1000G_AC=1439;p3_1000G_AF=0.28734;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=25713;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.3847;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152278434;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,13:51:99:412,0,1208
chr1	152307902	rs546650994	C	T	3882.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.377;ClippingRankSum=0;DP=310;ExcessHet=3.0103;FS=0.862;MLEAC=1;MLEAF=0.5;MQ=47.05;MQRankSum=-4.883;QD=12.53;ReadPosRankSum=0.871;SOR=0.771;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|synonymous_variant|LOW|FLG|FLG|transcript|NM_002016.1|protein_coding|3/3|c.6984G>A|p.Glu2328Glu|7020/12747|6984/12186|2328/4061||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20763;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152280378;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:154,156:310:99:3911,0,4196
chr1	152308381	rs147613842	T	C	2917.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=234;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.67;SOR=0.844;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147613842;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|FLG|FLG|transcript|NM_002016.1|protein_coding|3/3|c.6505A>G|p.Ser2169Gly|6541/12747|6505/12186|2169/4061||;p3_1000G_AA=-|||;p3_1000G_AC=48;p3_1000G_AF=0.00958466;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=25989;p3_1000G_EAS_AF=0.0476;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152280857;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_002016.1:12186;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=372;ESP6500_EA_AC=0,8594;ESP6500_EA_GTC=0,0,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002016.1:missense;ESP6500_GL=FLG;ESP6500_GRCh38_POSITION=1:152308381;ESP6500_GS=56;ESP6500_GTC=0,1,6499;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002016.1:c.6505A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002016.1:p.(S2169G);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=benign:0.0;ESP6500_TAC=1,12999	GT:AD:DP:GQ:PL	0/1:122,112:234:99:2946,0,3284
chr1	152309890	rs555631824	C	T	2522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.51;ClippingRankSum=0;DP=235;ExcessHet=3.0103;FS=3.805;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.638;SOR=0.958;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|missense_variant|MODERATE|FLG|FLG|transcript|NM_002016.1|protein_coding|3/3|c.4996G>A|p.Ala1666Thr|5032/12747|4996/12186|1666/4061||,T|upstream_gene_variant|MODIFIER|FLG-AS1|FLG-AS1|transcript|NR_103778.1|pseudogene||n.-3569C>T|||||3569|;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20098;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152282366;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:135,100:235:99:2551,0,3651
chr1	152313650	rs11582620	A	G	3099.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=250;ExcessHet=3.0103;FS=1.541;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.718;SOR=0.577;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11582620;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|FLG|FLG|transcript|NM_002016.1|protein_coding|3/3|c.1236T>C|p.Arg412Arg|1272/12747|1236/12186|412/4061||,G|non_coding_transcript_exon_variant|MODIFIER|FLG-AS1|FLG-AS1|transcript|NR_103778.1|pseudogene|1/7|n.192A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=431;p3_1000G_AF=0.0860623;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=20615;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152286126;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=93,4313;ESP6500_AA_GTC=0,93,2110;ESP6500_CDS_SIZES=NM_002016.1:12186;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=236;ESP6500_EA_AC=1003,7597;ESP6500_EA_GTC=66,871,3363;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002016.1:coding-synonymous;ESP6500_GL=FLG;ESP6500_GRCh38_POSITION=1:152313650;ESP6500_GTC=66,964,5473;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002016.1:c.1236T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002016.1:p.(R412);ESP6500_MAF=11.6628,2.1108,8.4269;ESP6500_TAC=1096,11910	GT:AD:DP:GQ:PL	0/1:132,115:247:99:3128,0,3610
chr1	152356893	rs2282302	C	G	2425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.357;ClippingRankSum=0;DP=158;ExcessHet=3.0103;FS=1.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-1.713;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282302;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|FLG2|FLG2|transcript|NM_001014342.2|protein_coding|3/3|c.893G>C|p.Cys298Ser|966/9122|893/7176|298/2391||,G|intron_variant|MODIFIER|FLG-AS1|FLG-AS1|transcript|NR_103778.1|pseudogene|6/6|n.1407-7094C>G||||||,G|intron_variant|MODIFIER|FLG-AS1|FLG-AS1|transcript|NR_103779.1|pseudogene|2/2|n.152-7094C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=684;p3_1000G_AF=0.136581;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=23480;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.2117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152329369;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=184,4222;ESP6500_AA_AGE=118.8+/-156.5;ESP6500_AA_GTC=6,172,2025;ESP6500_CDS_SIZES=NM_001014342.2:7176;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=198;ESP6500_EA_AC=1689,6911;ESP6500_EA_AGE=309.3+/-309.3;ESP6500_EA_GTC=167,1355,2778;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001014342.2:missense;ESP6500_GL=FLG2;ESP6500_GRCh38_POSITION=1:152356893;ESP6500_GS=112;ESP6500_GTC=173,1527,4803;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001014342.2:c.893G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001014342.2:p.(C298S);ESP6500_MAF=19.6395,4.1761,14.401;ESP6500_PH=probably-damaging:0.965;ESP6500_TAC=1873,11133	GT:AD:DP:GQ:PL	0/1:78,80:158:99:2454,0,2407
chr1	152412022	rs3215709	G	GT	406.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=2.494;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3215709;dbSNPBuildID=106;ANN=GT|intron_variant|MODIFIER|CRNN|CRNN|transcript|NM_016190.2|protein_coding|2/2|c.138+73_138+74insA||||||	GT:AD:DP:GQ:PL	1/1:0,11:11:33:444,33,0
chr1	152412357	rs1923492	T	C	523.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1923492;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|CRNN|CRNN|transcript|NM_016190.2|protein_coding|1/2|c.-13-111A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4391;p3_1000G_AF=0.876797;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=18492;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.8181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152384833;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:552,42,0
chr1	152511653	rs2105117	G	A	1186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.843;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0.764;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.653;SOR=0.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2105117;dbSNPBuildID=96;ANN=A|missense_variant|MODERATE|LCE5A|LCE5A|transcript|NM_178438.4|protein_coding|2/2|c.119G>A|p.Cys40Tyr|295/819|119/357|40/118||,A|upstream_gene_variant|MODIFIER|CRCT1|CRCT1|transcript|NM_019060.2|protein_coding||c.-3731G>A|||||2849|;p3_1000G_AA=G|||;p3_1000G_AC=2614;p3_1000G_AF=0.521965;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=15690;p3_1000G_EAS_AF=0.6111;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152484129;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1549,2857;ESP6500_AA_AGE=487.8+/-361.0;ESP6500_AA_GTC=277,995,931;ESP6500_CDS_SIZES=NM_178438.4:357;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=88;ESP6500_EA_AC=5425,3175;ESP6500_EA_AGE=655.0+/-401.2;ESP6500_EA_GTC=1716,1993,591;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_178438.4:missense;ESP6500_GL=LCE5A;ESP6500_GRCh38_POSITION=1:152511653;ESP6500_GS=194;ESP6500_GTC=1993,2988,1522;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178438.4:c.119G>A;ESP6500_HGVS_PROTEIN_VAR=NM_178438.4:p.(C40Y);ESP6500_MAF=36.9186,35.1566,46.3786;ESP6500_PH=benign:0.014;ESP6500_TAC=6974,6032	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1215,0,1288
chr1	152512751	rs3753451	T	G	618.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.192;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.342;SOR=0.814;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3753451;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|CRCT1|CRCT1|transcript|NM_019060.2|protein_coding||c.-2633T>G|||||1751|,G|downstream_gene_variant|MODIFIER|LCE5A|LCE5A|transcript|NM_178438.4|protein_coding||c.*860T>G|||||574|,G|intergenic_region|MODIFIER|LCE5A-CRCT1|LCE5A-CRCT1|intergenic_region|LCE5A-CRCT1|||n.152512751T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2710;p3_1000G_AF=0.541134;p3_1000G_AFR_AF=0.3517;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=17129;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152485227;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,31:71:99:647,0,954
chr1	152515503	rs2282296	C	T	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.347;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.84;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282296;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|CRCT1|CRCT1|transcript|NM_019060.2|protein_coding|2/2|c.120C>T|p.Cys40Cys|193/695|120/300|40/99||,T|downstream_gene_variant|MODIFIER|LCE5A|LCE5A|transcript|NM_178438.4|protein_coding||c.*3612C>T|||||3326|;p3_1000G_AA=C|||;p3_1000G_AC=2402;p3_1000G_AF=0.479633;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=10685;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152487979;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1227,2513;ESP6500_AA_GTC=235,757,878;ESP6500_CDS_SIZES=NM_019060.2:300;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=6;ESP6500_EA_AC=5312,2474;ESP6500_EA_GTC=1874,1564,455;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019060.2:coding-synonymous;ESP6500_GL=CRCT1;ESP6500_GRCh38_POSITION=1:152515503;ESP6500_GTC=2109,2321,1333;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019060.2:c.120C>T;ESP6500_HGVS_PROTEIN_VAR=NM_019060.2:p.(C40);ESP6500_MAF=31.775,32.8075,43.2674;ESP6500_TAC=6539,4987	GT:AD:DP:GQ:PL	0/1:7,12:19:99:284,0,187
chr1	152515587	rs1053588	C	T	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.697;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.566;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1053588;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|CRCT1|CRCT1|transcript|NM_019060.2|protein_coding|2/2|c.204C>T|p.Arg68Arg|277/695|204/300|68/99||,T|downstream_gene_variant|MODIFIER|LCE5A|LCE5A|transcript|NM_178438.4|protein_coding||c.*3696C>T|||||3410|;p3_1000G_AA=C|||;p3_1000G_AC=2930;p3_1000G_AF=0.585064;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=10534;p3_1000G_EAS_AF=0.6478;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152488063;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2218,1650;ESP6500_AA_GTC=693,832,409;ESP6500_CDS_SIZES=NM_019060.2:300;ESP6500_CG=0.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=7;ESP6500_EA_AC=5332,2594;ESP6500_EA_GTC=1864,1604,495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019060.2:coding-synonymous;ESP6500_GL=CRCT1;ESP6500_GRCh38_POSITION=1:152515587;ESP6500_GTC=2557,2436,904;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019060.2:c.204C>T;ESP6500_HGVS_PROTEIN_VAR=NM_019060.2:p.(R68);ESP6500_MAF=32.7277,42.6577,35.9844;ESP6500_TAC=7550,4244	GT:AD:DP:GQ:PL	0/1:3,4:7:71:127,0,71
chr1	152565882	rs17659359	G	C	1363.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.182;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0.879;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.486;SOR=0.882;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17659359;dbSNPBuildID=123;ANN=C|3_prime_UTR_variant|MODIFIER|LCE3E|LCE3E|transcript|NM_178435.3|protein_coding|2/2|c.*48C>G|||||48|;p3_1000G_AA=G|||;p3_1000G_AC=1295;p3_1000G_AF=0.258586;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=16842;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.2187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152538358;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=925,3479;ESP6500_AA_GTC=100,725,1377;ESP6500_CDS_SIZES=NM_178435.2:279;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=56;ESP6500_EA_AC=1986,6608;ESP6500_EA_GTC=220,1546,2531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178435.2:utr-3;ESP6500_GL=LCE3E;ESP6500_GRCh38_POSITION=1:152565882;ESP6500_GTC=320,2271,3908;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_178435.2:c.*48C>G;ESP6500_MAF=23.1091,21.0036,22.3958;ESP6500_TAC=2911,10087	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1392,0,1031
chr1	152579809	rs512208	C	A	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.939;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=3.377;MLEAC=1;MLEAF=0.5;MQ=56.82;MQRankSum=-0.997;QD=11.01;ReadPosRankSum=0.924;SOR=0.703;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs512208;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|LCE3D|LCE3D|transcript|NM_032563.1|protein_coding|2/2|c.128G>T|p.Gly43Val|185/610|128/279|43/92||;p3_1000G_AA=C|||;p3_1000G_AC=1386;p3_1000G_AF=0.276757;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=15854;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.3827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152552285;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=789,3617;ESP6500_AA_AGE=316.1+/-294.4;ESP6500_AA_GTC=78,633,1492;ESP6500_CDS_SIZES=NM_032563.1:279;ESP6500_CG=0.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=63;ESP6500_EA_AC=3138,5454;ESP6500_EA_AGE=473.4+/-368.6;ESP6500_EA_GTC=598,1942,1756;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032563.1:missense;ESP6500_GL=LCE3D;ESP6500_GRCh38_POSITION=1:152579809;ESP6500_GS=109;ESP6500_GTC=676,2575,3248;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_032563.1:c.128G>T;ESP6500_HGVS_PROTEIN_VAR=NM_032563.1:p.(G43V);ESP6500_MAF=36.5223,17.9074,30.2123;ESP6500_PH=benign:0.44;ESP6500_TAC=3927,9071	GT:AD:DP:GQ:PL	0/1:35,31:66:99:755,0,1187
chr1	152579985	rs4845313	C	A	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.617;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.511;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=0.225;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845313;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|LCE3D|LCE3D|transcript|NM_032563.1|protein_coding|1/1|c.-21-28G>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1163;p3_1000G_AF=0.232228;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=19514;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152552461;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=498,3908;ESP6500_AA_AGE=230.1+/-244.4;ESP6500_AA_GTC=33,432,1738;ESP6500_CDS_SIZES=NM_032563.1:279;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=46;ESP6500_EA_AC=2295,6305;ESP6500_EA_AGE=385.5+/-341.5;ESP6500_EA_GTC=313,1669,2318;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032563.1:intron;ESP6500_GL=LCE3D;ESP6500_GRCh38_POSITION=1:152579985;ESP6500_GTC=346,2101,4056;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_032563.1:c.-49G>T;ESP6500_MAF=26.686,11.3028,21.4747;ESP6500_TAC=2793,10213	GT:AD:DP:GQ:PL	0/1:22,14:36:99:357,0,678
chr1	152686790	rs3737860	G	T	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.468;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=9.7;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0.748;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57291980;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LCE2B|LCE2B|transcript|NM_014357.4|protein_coding|1/1|c.-20-34G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1069;p3_1000G_AF=0.213458;p3_1000G_AFR_AF=0.3359;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=18843;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152659266;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,9:29:99:225,0,590
chr1	152686995	rs3737859	T	G	879.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.63;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.202;SOR=0.484;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737859;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|LCE2B|LCE2B|transcript|NM_014357.4|protein_coding|2/2|c.152T>G|p.Ile51Ser|206/611|152/333|51/110||;p3_1000G_AA=G|||;p3_1000G_AC=1033;p3_1000G_AF=0.20627;p3_1000G_AFR_AF=0.3071;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=14305;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152659471;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1263,3143;ESP6500_AA_AGE=701.8+/-406.8;ESP6500_AA_GTC=184,895,1124;ESP6500_CDS_SIZES=NM_014357.4:333;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=135;ESP6500_EA_AC=700,7900;ESP6500_EA_AGE=787.6+/-407.6;ESP6500_EA_GTC=35,630,3635;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014357.4:missense;ESP6500_GL=LCE2B;ESP6500_GRCh38_POSITION=1:152686995;ESP6500_GS=142;ESP6500_GTC=219,1525,4759;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014357.4:c.152T>G;ESP6500_HGVS_PROTEIN_VAR=NM_014357.4:p.(I51S);ESP6500_MAF=8.1395,28.6655,15.093;ESP6500_PH=benign:0.0;ESP6500_TAC=1963,11043	GT:AD:DP:GQ:PL	0/1:32,28:60:99:908,0,867
chr1	152709204	rs6143428	C	CAGCTCTGGGGGCTGCTGT	1946.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=1.206;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs6143428,rs11269814;dbSNPBuildID=135;ANN=CAGCTCTGGGGGCTGCTGT|disruptive_inframe_insertion|MODERATE|LCE4A|LCE4A|transcript|NM_178356.3|protein_coding|1/1|c.143_144insCTGTAGCTCTGGGGGCTG|p.Cys48_Gly49insCysSerSerGlyGlyCys|173/388|144/300|48/99||INFO_REALIGN_3_PRIME;p3_1000G_AC=4009;p3_1000G_AF=0.800519;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=18534;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152681680;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1984,132,0
chr1	152720036	rs41268474	G	A	884.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.317;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=3.291;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.269;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41268474;dbSNPBuildID=127;ANN=A|missense_variant|MODERATE|C1orf68|C1orf68|transcript|NM_001024679.2|protein_coding|1/1|c.515G>A|p.Cys172Tyr|515/908|515/753|172/250||;p3_1000G_AA=G|||;p3_1000G_AC=500;p3_1000G_AF=0.0998403;p3_1000G_AFR_AF=0.1104;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=19222;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.0974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152692512;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=158,1226;ESP6500_AA_GTC=13,132,547;ESP6500_CDS_SIZES=NM_001024679.2:753;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=67;ESP6500_EA_AC=293,2889;ESP6500_EA_GTC=13,267,1311;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001024679.2:missense;ESP6500_GL=C1orf68;ESP6500_GRCh38_POSITION=1:152720036;ESP6500_GS=194;ESP6500_GTC=26,399,1858;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001024679.2:c.515G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001024679.2:p.(C172Y);ESP6500_MAF=9.208,11.4162,9.8774;ESP6500_PH=benign:0.002;ESP6500_TAC=451,4115	GT:AD:DP:GQ:PL	0/1:36,35:71:99:913,0,1071
chr1	152759698	rs944683	T	C	4099.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=1.412;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs944683;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|KPRP|KPRP|transcript|NM_001025231.1|protein_coding|2/2|c.110T>C|p.Val37Ala|168/2523|110/1740|37/579||;p3_1000G_AA=T|||;p3_1000G_AC=951;p3_1000G_AF=0.189896;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=21401;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152732174;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=625,3781;ESP6500_AA_AGE=271.6+/-270.3;ESP6500_AA_GTC=52,521,1630;ESP6500_CDS_SIZES=NM_001025231.1:1740;ESP6500_CG=0.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=134;ESP6500_EA_AC=934,7666;ESP6500_EA_AGE=206.1+/-248.3;ESP6500_EA_GTC=61,812,3427;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001025231.1:missense;ESP6500_GL=KPRP;ESP6500_GRCh38_POSITION=1:152759698;ESP6500_GS=64;ESP6500_GTC=113,1333,5057;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001025231.1:c.110T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001025231.1:p.(V37A);ESP6500_MAF=10.8605,14.1852,11.9868;ESP6500_PH=benign:0.093;ESP6500_TAC=1559,11447	GT:AD:DP:GQ:PL	1/1:0,114:114:99:4128,343,0
chr1	152759960	rs4845480	G	C	4431.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=1.052;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845480;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|KPRP|KPRP|transcript|NM_001025231.1|protein_coding|2/2|c.372G>C|p.Ala124Ala|430/2523|372/1740|124/579||;p3_1000G_AA=C|||;p3_1000G_AC=2456;p3_1000G_AF=0.490415;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=23278;p3_1000G_EAS_AF=0.4187;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152732436;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2439,1967;ESP6500_AA_AGE=554.9+/-379.1;ESP6500_AA_GTC=676,1087,440;ESP6500_CDS_SIZES=NM_001025231.1:1740;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=250;ESP6500_EA_AC=4322,4278;ESP6500_EA_AGE=575.7+/-390.3;ESP6500_EA_GTC=1096,2130,1074;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001025231.1:coding-synonymous;ESP6500_GL=KPRP;ESP6500_GRCh38_POSITION=1:152759960;ESP6500_GTC=1772,3217,1514;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001025231.1:c.372G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001025231.1:p.(A124);ESP6500_MAF=49.7442,44.6437,48.0163;ESP6500_TAC=6761,6245	GT:AD:DP:GQ:PL	1/1:0,121:121:99:4460,363,0
chr1	152760091	rs16834461	G	A	4134.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=132;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=1.078;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16834461;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|KPRP|KPRP|transcript|NM_001025231.1|protein_coding|2/2|c.503G>A|p.Arg168His|561/2523|503/1740|168/579||;p3_1000G_AA=G|||;p3_1000G_AC=1265;p3_1000G_AF=0.252596;p3_1000G_AFR_AF=0.3585;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=19803;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.1123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152732567;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1320,3086;ESP6500_AA_AGE=445.5+/-347.7;ESP6500_AA_GTC=205,910,1088;ESP6500_CDS_SIZES=NM_001025231.1:1740;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=117;ESP6500_EA_AC=964,7636;ESP6500_EA_AGE=210.0+/-251.0;ESP6500_EA_GTC=66,832,3402;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001025231.1:missense;ESP6500_GL=KPRP;ESP6500_GRCh38_POSITION=1:152760091;ESP6500_GS=29;ESP6500_GTC=271,1742,4490;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001025231.1:c.503G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001025231.1:p.(R168H);ESP6500_MAF=11.2093,29.9591,17.5611;ESP6500_PH=possibly-damaging:0.769;ESP6500_TAC=2284,10722	GT:AD:DP:GQ:PL	1/1:0,132:132:99:4163,396,0
chr1	152760825	rs4329520	T	A	6277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=189;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4329520;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|KPRP|KPRP|transcript|NM_001025231.1|protein_coding|2/2|c.1237T>A|p.Cys413Ser|1295/2523|1237/1740|413/579||;p3_1000G_AA=T|||;p3_1000G_AC=2455;p3_1000G_AF=0.490216;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=19481;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152733301;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2439,1967;ESP6500_AA_AGE=620.2+/-393.5;ESP6500_AA_GTC=676,1087,440;ESP6500_CDS_SIZES=NM_001025231.1:1740;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=168;ESP6500_EA_AC=4323,4277;ESP6500_EA_AGE=579.2+/-390.9;ESP6500_EA_GTC=1097,2129,1074;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001025231.1:missense;ESP6500_GL=KPRP;ESP6500_GRCh38_POSITION=1:152760825;ESP6500_GS=112;ESP6500_GTC=1773,3216,1514;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001025231.1:c.1237T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001025231.1:p.(C413S);ESP6500_MAF=49.7326,44.6437,48.0086;ESP6500_PH=benign:0.017;ESP6500_TAC=6762,6244	GT:AD:DP:GQ:PL	1/1:0,188:188:99:6306,564,0
chr1	152776532	rs766160595	C	CCAGCTCTGGGGGCTGCTG	338.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.962;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=59.83;MQRankSum=-1.058;QD=16.13;ReadPosRankSum=-0.391;SOR=1.162;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=CCAGCTCTGGGGGCTGCTG|disruptive_inframe_insertion|MODERATE|LCE1F|LCE1F|transcript|NM_178354.2|protein_coding|1/1|c.174_191dupCTGCTGCAGCTCTGGGGG|p.Gly64_Gly65insCysCysSerSerGlyGly|192/598|192/357|64/118||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:12,9:21:99:376,0,1679
chr1	152776852	rs872180	C	T	276.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs872180;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|LCE1F|LCE1F|transcript|NM_178354.2|protein_coding|1/1|c.*124C>T|||||124|;p3_1000G_AA=C|||;p3_1000G_AC=992;p3_1000G_AF=0.198083;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=19104;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152749328;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:305,27,0
chr1	152787202	rs1034109	C	T	1312.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=2.356;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1034109;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|LCE1E|LCE1E|transcript|NM_178353.1|protein_coding|1/1|c.-22-76C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2687;p3_1000G_AF=0.536542;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=17582;p3_1000G_EAS_AF=0.4087;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152759678;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1341,128,0
chr1	152787474	rs11205106	A	G	1437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.68;QD=31.95;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11205106;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|LCE1E|LCE1E|transcript|NM_178353.1|protein_coding|2/2|c.175A>G|p.Ser59Gly|228/1179|175/357|59/118||;p3_1000G_AA=G|||;p3_1000G_AC=2683;p3_1000G_AF=0.535743;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=12821;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152759950;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4172;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3099,1305;ESP6500_AA_GTC=1096,907,199;ESP6500_CDS_SIZES=NM_178353.1:357;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=45;ESP6500_EA_AC=4199,4397;ESP6500_EA_GTC=1034,2131,1133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178353.1:missense;ESP6500_GL=LCE1E;ESP6500_GRCh38_POSITION=1:152787474;ESP6500_GS=56;ESP6500_GTC=2130,3038,1332;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178353.1:c.175A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178353.1:p.(S59G);ESP6500_MAF=48.8483,29.6322,43.8615;ESP6500_PH=benign:0.0;ESP6500_TAC=7298,5702	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1466,135,0
chr1	152787599	rs201660535	A	G	773.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.3;QD=27.51;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201660535;dbSNPBuildID=137;ANN=G|synonymous_variant|LOW|LCE1E|LCE1E|transcript|NM_178353.1|protein_coding|2/2|c.300A>G|p.Ser100Ser|353/1179|300/357|100/118||;p3_1000G_AA=G|||;p3_1000G_AC=1333;p3_1000G_AF=0.266174;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=14498;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152760075;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=355,3853;ESP6500_AA_GTC=89,177,1838;ESP6500_CDS_SIZES=NM_178353.1:357;ESP6500_CG=-4.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=47;ESP6500_EA_AC=177,8331;ESP6500_EA_GTC=25,127,4102;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178353.1:coding-synonymous;ESP6500_GL=LCE1E;ESP6500_GRCh38_POSITION=1:152787599;ESP6500_GTC=114,304,5940;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178353.1:c.300A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178353.1:p.(S100);ESP6500_MAF=2.0804,8.4363,4.1837;ESP6500_TAC=532,12184	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:152787599_A_G:802,57,0
chr1	152787617	rs112600788	T	C	934.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.01;QD=29.33;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs112600788;dbSNPBuildID=132;ANN=C|synonymous_variant|LOW|LCE1E|LCE1E|transcript|NM_178353.1|protein_coding|2/2|c.318T>C|p.Cys106Cys|371/1179|318/357|106/118||;p3_1000G_AA=C|||;p3_1000G_AC=882;p3_1000G_AF=0.176118;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=15244;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152760093;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=328,3902;ESP6500_AA_GTC=34,260,1821;ESP6500_CDS_SIZES=NM_178353.1:357;ESP6500_CG=-2.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=51;ESP6500_EA_AC=177,8323;ESP6500_EA_GTC=12,153,4085;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178353.1:coding-synonymous;ESP6500_GL=LCE1E;ESP6500_GRCh38_POSITION=1:152787617;ESP6500_GTC=46,413,5906;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178353.1:c.318T>C;ESP6500_HGVS_PROTEIN_VAR=NM_178353.1:p.(C106);ESP6500_MAF=2.0824,7.7541,3.967;ESP6500_TAC=505,12225	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:66:1|1:152787599_A_G:963,66,0
chr1	152787620	rs115864544	A	T	852.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.55;QD=33.17;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs115864544;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|LCE1E|LCE1E|transcript|NM_178353.1|protein_coding|2/2|c.321A>T|p.Gly107Gly|374/1179|321/357|107/118||;p3_1000G_AA=A|||;p3_1000G_AC=882;p3_1000G_AF=0.176118;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=14571;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152760096;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=397,3855;ESP6500_AA_GTC=43,311,1772;ESP6500_CDS_SIZES=NM_178353.1:357;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=52;ESP6500_EA_AC=221,8299;ESP6500_EA_GTC=15,191,4054;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178353.1:coding-synonymous;ESP6500_GL=LCE1E;ESP6500_GRCh38_POSITION=1:152787620;ESP6500_GTC=58,502,5826;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_178353.1:c.321A>T;ESP6500_HGVS_PROTEIN_VAR=NM_178353.1:p.(G107);ESP6500_MAF=2.5939,9.3368,4.8387;ESP6500_TAC=618,12154	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:60:1|1:152787599_A_G:881,60,0
chr1	152798045	rs41268492	G	A	2351.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.49;QD=35.01;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41268492;dbSNPBuildID=127;ANN=A|missense_variant|MODERATE|LCE1D|LCE1D|transcript|NM_178352.2|protein_coding|2/2|c.251G>A|p.Arg84His|294/430|251/345|84/114||;p3_1000G_AA=A|||;p3_1000G_AC=1689;p3_1000G_AF=0.33726;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=10804;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.1938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152770521;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1196,2772;ESP6500_AA_GTC=236,724,1024;ESP6500_CDS_SIZES=NM_178352.2:345;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=22;ESP6500_EA_AC=1240,6234;ESP6500_EA_GTC=293,654,2790;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178352.2:missense;ESP6500_GL=LCE1D;ESP6500_GRCh38_POSITION=1:152798045;ESP6500_GS=29;ESP6500_GTC=529,1378,3814;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178352.2:c.251G>A;ESP6500_HGVS_PROTEIN_VAR=NM_178352.2:p.(R84H);ESP6500_MAF=16.5908,30.1411,21.29;ESP6500_PH=benign:0.0;ESP6500_TAC=2436,9006	GT:AD:DP:GQ:PL	1/1:0,54:54:99:2380,166,0
chr1	152798057	rs41268494	G	A	1452.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.236;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.09;MQRankSum=3.78;QD=23.82;ReadPosRankSum=1.36;SOR=0.7;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41268494;dbSNPBuildID=127;ANN=A|missense_variant|MODERATE|LCE1D|LCE1D|transcript|NM_178352.2|protein_coding|2/2|c.263G>A|p.Ser88Asn|306/430|263/345|88/114||;ESP6500_AA=G;ESP6500_AA_AC=571,3459;ESP6500_AA_GTC=9,553,1453;ESP6500_CDS_SIZES=NM_178352.2:345;ESP6500_CG=3.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=25;ESP6500_EA_AC=806,6728;ESP6500_EA_GTC=15,776,2976;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178352.2:missense;ESP6500_GL=LCE1D;ESP6500_GRCh38_POSITION=1:152798057;ESP6500_GS=46;ESP6500_GTC=24,1329,4429;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178352.2:c.263G>A;ESP6500_HGVS_PROTEIN_VAR=NM_178352.2:p.(S88N);ESP6500_MAF=10.6982,14.1687,11.9076;ESP6500_PH=benign:0.0;ESP6500_TAC=1377,10187	GT:AD:DP:GQ:PL	0/1:10,51:61:85:1481,0,85
chr1	152798113	rs11485496	A	G	2320.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.8;QD=29.01;SOR=0.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11485496;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|LCE1D|LCE1D|transcript|NM_178352.2|protein_coding|2/2|c.319A>G|p.Ser107Gly|362/430|319/345|107/114||;ESP6500_AA=G;ESP6500_AA_AC=1517,2503;ESP6500_AA_GTC=250,1017,743;ESP6500_CDS_SIZES=NM_178352.2:345;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=40;ESP6500_EA_AC=1515,5915;ESP6500_EA_GTC=354,807,2554;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178352.2:missense;ESP6500_GL=LCE1D;ESP6500_GRCh38_POSITION=1:152798113;ESP6500_GS=56;ESP6500_GTC=604,1824,3297;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178352.2:c.319A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178352.2:p.(S107G);ESP6500_MAF=20.3903,37.7363,26.4803;ESP6500_PH=benign:0.0;ESP6500_TAC=3032,8418	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2349,240,0
chr1	152805098	rs1048534	G	A	547.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.83;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1048534;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|LCE1C|LCE1C|transcript|NM_178351.3|protein_coding|2/2|c.*24C>T|||||24|,A|3_prime_UTR_variant|MODIFIER|LCE1C|LCE1C|transcript|NM_001276331.1|protein_coding|3/3|c.*24C>T|||||24|;p3_1000G_AA=G|||;p3_1000G_AC=1000;p3_1000G_AF=0.199681;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=13840;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.1123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152777574;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=594,3808;ESP6500_AA_GTC=43,508,1650;ESP6500_CDS_SIZES=NM_178351.3:357;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=976,7622;ESP6500_EA_GTC=61,854,3384;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178351.3:utr-3;ESP6500_GL=LCE1C;ESP6500_GRCh38_POSITION=1:152805098;ESP6500_GTC=104,1362,5034;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178351.3:c.*24C>T;ESP6500_MAF=11.3515,13.4939,12.0769;ESP6500_TAC=1570,11430	GT:AD:DP:GQ:PL	1/1:0,19:19:57:576,57,0
chr1	152805282	rs534849272	C	A	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.643;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=-0.899;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|missense_variant|MODERATE|LCE1C|LCE1C|transcript|NM_178351.3|protein_coding|2/2|c.197G>T|p.Gly66Val|248/695|197/357|66/118||,A|missense_variant|MODERATE|LCE1C|LCE1C|transcript|NM_001276331.1|protein_coding|3/3|c.107G>T|p.Gly36Val|158/605|107/267|36/88||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13172;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152777758;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,14:18:81:388,0,81
chr1	152805432	rs2006940	C	T	1232.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.86;QD=29.35;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2006940;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|LCE1C|LCE1C|transcript|NM_178351.3|protein_coding|2/2|c.47G>A|p.Cys16Tyr|98/695|47/357|16/118||,T|splice_region_variant&intron_variant|LOW|LCE1C|LCE1C|transcript|NM_001276331.1|protein_coding|2/2|c.44+3G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1105;p3_1000G_AF=0.220647;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=12954;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152777908;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=864,3540;ESP6500_AA_AGE=321.8+/-297.3;ESP6500_AA_GTC=75,714,1413;ESP6500_CDS_SIZES=NM_178351.3:357;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=39;ESP6500_EA_AC=991,7609;ESP6500_EA_AGE=209.8+/-250.9;ESP6500_EA_GTC=63,865,3372;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178351.3:missense;ESP6500_GL=LCE1C;ESP6500_GRCh38_POSITION=1:152805432;ESP6500_GS=194;ESP6500_GTC=138,1579,4785;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178351.3:c.47G>A;ESP6500_HGVS_PROTEIN_VAR=NM_178351.3:p.(C16Y);ESP6500_MAF=11.5233,19.6185,14.2648;ESP6500_PH=probably-damaging:0.991;ESP6500_TAC=1855,11149	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:152805427_G_T:1261,125,0
chr1	152909659	rs11205132	A	G	1222.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=2.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11205132;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|IVL|IVL|transcript|NM_005547.2|protein_coding|1/1|c.-19-120A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2071;p3_1000G_AF=0.413538;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=22101;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.1083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152882135;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1251,96,0
chr1	152910134	rs2229496	A	G	1274.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229496;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|IVL|IVL|transcript|NM_005547.2|protein_coding|2/2|c.337A>G|p.Thr113Ala|383/2135|337/1758|113/585||;p3_1000G_AA=G|||;p3_1000G_AC=2072;p3_1000G_AF=0.413738;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=21641;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152882610;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2534,1872;ESP6500_AA_AGE=542.0+/-375.9;ESP6500_AA_GTC=740,1054,409;ESP6500_CDS_SIZES=NM_005547.2:1758;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=59;ESP6500_EA_AC=789,7811;ESP6500_EA_AGE=783.7+/-407.6;ESP6500_EA_GTC=38,713,3549;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005547.2:missense;ESP6500_GL=IVL;ESP6500_GRCh38_POSITION=1:152910134;ESP6500_GS=58;ESP6500_GTC=778,1767,3958;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005547.2:c.337A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005547.2:p.(T113A);ESP6500_MAF=9.1744,42.4875,25.5497;ESP6500_PH=benign:0.0;ESP6500_TAC=3323,9683	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1303,102,0
chr1	152911132	rs7545413	G	A	615.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.21;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7545413;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|IVL|IVL|transcript|NM_005547.2|protein_coding|2/2|c.1335G>A|p.Gln445Gln|1381/2135|1335/1758|445/585||;p3_1000G_AA=g|||;p3_1000G_AC=2065;p3_1000G_AF=0.41234;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=19909;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152883608;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2399,1957;ESP6500_AA_GTC=689,1021,468;ESP6500_CDS_SIZES=NM_005547.2:1758;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=25;ESP6500_EA_AC=760,7786;ESP6500_EA_GTC=39,682,3552;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005547.2:coding-synonymous;ESP6500_GL=IVL;ESP6500_GRCh38_POSITION=1:152911132;ESP6500_GTC=728,1703,4020;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005547.2:c.1335G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005547.2:p.(Q445);ESP6500_MAF=8.893,44.9265,24.4846;ESP6500_TAC=3159,9743	GT:AD:DP:GQ:PL	1/1:0,18:18:54:644,54,0
chr1	152911204	rs7535306	A	G	593.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7535306;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|IVL|IVL|transcript|NM_005547.2|protein_coding|2/2|c.1407A>G|p.Gln469Gln|1453/2135|1407/1758|469/585||;p3_1000G_AA=G|||;p3_1000G_AC=2071;p3_1000G_AF=0.413538;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=18638;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152883680;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2401,1947;ESP6500_AA_GTC=681,1039,454;ESP6500_CDS_SIZES=NM_005547.2:1758;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=752,7780;ESP6500_EA_GTC=41,670,3555;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005547.2:coding-synonymous;ESP6500_GL=IVL;ESP6500_GRCh38_POSITION=1:152911204;ESP6500_GTC=722,1709,4009;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005547.2:c.1407A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005547.2:p.(Q469);ESP6500_MAF=8.8139,44.7792,24.4798;ESP6500_TAC=3153,9727	GT:AD:DP:GQ:PL	1/1:0,18:18:54:622,54,0
chr1	152911235	rs7545520	G	C	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7545520;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|IVL|IVL|transcript|NM_005547.2|protein_coding|2/2|c.1438G>C|p.Val480Leu|1484/2135|1438/1758|480/585||;p3_1000G_AA=C|||;p3_1000G_AC=2065;p3_1000G_AF=0.41234;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=18908;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152883711;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2393,1961;ESP6500_AA_GTC=673,1047,457;ESP6500_CDS_SIZES=NM_005547.2:1758;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=56;ESP6500_EA_AC=744,7794;ESP6500_EA_GTC=37,670,3562;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005547.2:missense;ESP6500_GL=IVL;ESP6500_GRCh38_POSITION=1:152911235;ESP6500_GS=32;ESP6500_GTC=710,1717,4019;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005547.2:c.1438G>C;ESP6500_HGVS_PROTEIN_VAR=NM_005547.2:p.(V480L);ESP6500_MAF=8.714,45.039,24.3329;ESP6500_PH=benign:0.004;ESP6500_TAC=3137,9755	GT:AD:DP:GQ:PL	1/1:0,23:23:69:765,69,0
chr1	152911608	rs28542566	G	A	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.927;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.448;SOR=3.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28542566;dbSNPBuildID=125;ANN=A|3_prime_UTR_variant|MODIFIER|IVL|IVL|transcript|NM_005547.2|protein_coding|2/2|c.*53G>A|||||53|;p3_1000G_AA=G|||;p3_1000G_AC=61;p3_1000G_AF=0.0121805;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18695;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152884084;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:216,0,144
chr1	152911635	rs913996	G	A	238.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs913996;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|IVL|IVL|transcript|NM_005547.2|protein_coding|2/2|c.*80G>A|||||80|;p3_1000G_AA=G|||;p3_1000G_AC=2062;p3_1000G_AF=0.411741;p3_1000G_AFR_AF=0.6785;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=18027;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.1083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152884111;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:267,24,0
chr1	152972118	rs3170863	C	T	2027.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=0.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3170863;dbSNPBuildID=105;ANN=T|synonymous_variant|LOW|SPRR4|SPRR4|transcript|NM_173080.2|protein_coding|2/2|c.228C>T|p.Ser76Ser|290/745|228/240|76/79||;p3_1000G_AA=T|||;p3_1000G_AC=3131;p3_1000G_AF=0.6252;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=21757;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5656;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152944594;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3425,981;ESP6500_AA_AGE=368.1+/-318.5;ESP6500_AA_GTC=1336,753,114;ESP6500_CDS_SIZES=NM_173080.1:240;ESP6500_CG=2.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=108;ESP6500_EA_AC=4912,3688;ESP6500_EA_AGE=528.4+/-381.4;ESP6500_EA_GTC=1434,2044,822;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173080.1:coding-synonymous;ESP6500_GL=SPRR4;ESP6500_GRCh38_POSITION=1:152972118;ESP6500_GTC=2770,2797,936;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173080.1:c.228C>T;ESP6500_HGVS_PROTEIN_VAR=NM_173080.1:p.(S76);ESP6500_MAF=42.8837,22.2651,35.8988;ESP6500_TAC=8337,4669	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2056,195,0
chr1	152985097	rs1611760	T	C	373.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1611760;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|SPRR1A|SPRR1A|transcript|NM_001199828.1|protein_coding|1/1|c.-33-101T>C||||||,C|intron_variant|MODIFIER|SPRR1A|SPRR1A|transcript|NM_005987.3|protein_coding|1/1|c.-19-115T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2946;p3_1000G_AF=0.588259;p3_1000G_AFR_AF=0.7239;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=17020;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152957573;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:402,36,0
chr1	152985356	rs1611762	C	A	1313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1611762;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|SPRR1A|SPRR1A|transcript|NM_001199828.1|protein_coding|2/2|c.126C>A|p.His42Gln|197/655|126/270|42/89||,A|missense_variant|MODERATE|SPRR1A|SPRR1A|transcript|NM_005987.3|protein_coding|2/2|c.126C>A|p.His42Gln|183/641|126/270|42/89||;p3_1000G_AA=C|||;p3_1000G_AC=2531;p3_1000G_AF=0.505391;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.4395;p3_1000G_AN=5008;p3_1000G_DP=14293;p3_1000G_EAS_AF=0.5972;p3_1000G_EUR_AF=0.5348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152957832;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1342,113,0
chr1	152985411	rs1611764	G	A	2259.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=1.263;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1611764;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|SPRR1A|SPRR1A|transcript|NM_001199828.1|protein_coding|2/2|c.181G>A|p.Val61Ile|252/655|181/270|61/89||,A|missense_variant|MODERATE|SPRR1A|SPRR1A|transcript|NM_005987.3|protein_coding|2/2|c.181G>A|p.Val61Ile|238/641|181/270|61/89||;p3_1000G_AA=G|||;p3_1000G_AC=2810;p3_1000G_AF=0.561102;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=15250;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152957887;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2805,1601;ESP6500_AA_AGE=660.2+/-400.7;ESP6500_AA_GTC=897,1011,295;ESP6500_CDS_SIZES=NM_005987.3:270,NM_001199828.1:270;ESP6500_CG=3.8;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=106;ESP6500_EA_AC=4674,3926;ESP6500_EA_AGE=602.4+/-394.5;ESP6500_EA_GTC=1279,2116,905;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005987.3:missense,NM_001199828.1:missense;ESP6500_GL=SPRR1A;ESP6500_GRCh38_POSITION=1:152985411;ESP6500_GS=29,29;ESP6500_GTC=2176,3127,1200;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005987.3:c.181G>A,NM_001199828.1:c.181G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005987.3:p.(V61I),NM_001199828.1:p.(V61I);ESP6500_MAF=45.6512,36.3368,42.4958;ESP6500_PH=possibly-damaging:0.828,possibly-damaging:0.828;ESP6500_TAC=7479,5527	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2288,204,0
chr1	153003019	rs2075739	G	A	1887.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2075739;dbSNPBuildID=96;ANN=A|5_prime_UTR_variant|MODIFIER|SPRR3|SPRR3|transcript|NM_001097589.1|protein_coding|2/2|c.-2G>A|||||2|,A|5_prime_UTR_variant|MODIFIER|SPRR3|SPRR3|transcript|NM_005416.2|protein_coding|3/3|c.-2G>A|||||2|;p3_1000G_AA=G|||;p3_1000G_AC=2629;p3_1000G_AF=0.52496;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=19974;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152975495;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2313,2093;ESP6500_AA_AGE=604.0+/-390.2;ESP6500_AA_GTC=595,1123,485;ESP6500_CDS_SIZES=NM_005416.2:510,NM_001097589.1:510;ESP6500_CG=2.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=85;ESP6500_EA_AC=4674,3926;ESP6500_EA_AGE=604.6+/-394.8;ESP6500_EA_GTC=1280,2114,906;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005416.2:utr-5,NM_001097589.1:utr-5;ESP6500_GL=SPRR3;ESP6500_GRCh38_POSITION=1:153003019;ESP6500_GTC=1875,3237,1391;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005416.2:c.-2G>A,NM_001097589.1:c.-2G>A;ESP6500_MAF=45.6512,47.5034,46.2786;ESP6500_TAC=6987,6019	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1916,174,0
chr1	153003182	rs869034188;rs869051230;rs67156933	AGAGCCAGGCTGTACCAAGGTCCCT	A	1712.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.82;QD=27.63;SOR=1.455;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67156933;dbSNPBuildID=147,147;ANN=A|disruptive_inframe_deletion|MODERATE|SPRR3|SPRR3|transcript|NM_001097589.1|protein_coding|2/2|c.219_242delCTGTACCAAGGTCCCTGAGCCAGG|p.Cys74_Gly81del|285/902|219/510|73/169||INFO_REALIGN_3_PRIME,A|disruptive_inframe_deletion|MODERATE|SPRR3|SPRR3|transcript|NM_005416.2|protein_coding|3/3|c.219_242delCTGTACCAAGGTCCCTGAGCCAGG|p.Cys74_Gly81del|369/986|219/510|73/169||INFO_REALIGN_3_PRIME,A|sequence_feature|LOW|SPRR3|SPRR3|repeat:3|NM_005416.2|protein_coding|3/3|c.163_186delGAGCCAGGCTGTACCAAGGTCCCT||||||;ESP6500_AA_AC=2036,1952;ESP6500_AA_GTC=740,556,698;ESP6500_CDS_SIZES=NM_005416.2:510,NM_001097589.1:510;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=70;ESP6500_EA_AC=3135,4775;ESP6500_EA_GTC=852,1431,1672;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005416.2:coding,NM_001097589.1:coding;ESP6500_GL=SPRR3;ESP6500_GRCh38_POSITION=1:153003182;ESP6500_GTC=1592,1987,2370;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005416.2:c.163_186del24,NM_001097589.1:c.163_186del24;ESP6500_HGVS_PROTEIN_VAR=NM_005416.2:p.(E55_P62del8),NM_001097589.1:p.(E55_P62del8);ESP6500_MAF=39.6334,48.9468,43.4611;ESP6500_TAC=5171,6727	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1750,134,0
chr1	153003287	rs1977734	C	A	2450.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.6;QD=31.92;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1977734;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|SPRR3|SPRR3|transcript|NM_001097589.1|protein_coding|2/2|c.267C>A|p.Gly89Gly|333/902|267/510|89/169||,A|synonymous_variant|LOW|SPRR3|SPRR3|transcript|NM_005416.2|protein_coding|3/3|c.267C>A|p.Gly89Gly|417/986|267/510|89/169||;p3_1000G_AA=T|||;p3_1000G_AC=2627;p3_1000G_AF=0.524561;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=17476;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152975763;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2311,2095;ESP6500_AA_GTC=594,1123,486;ESP6500_CDS_SIZES=NM_005416.2:510,NM_001097589.1:510;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=64;ESP6500_EA_AC=4670,3928;ESP6500_EA_GTC=1279,2112,908;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005416.2:coding-synonymous,NM_001097589.1:coding-synonymous;ESP6500_GL=SPRR3;ESP6500_GRCh38_POSITION=1:153003287;ESP6500_GTC=1873,3235,1394;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005416.2:c.267C>A,NM_001097589.1:c.267C>A;ESP6500_HGVS_PROTEIN_VAR=NM_005416.2:p.(G89),NM_001097589.1:p.(G89);ESP6500_MAF=45.685,47.5488,46.3165;ESP6500_TAC=6981,6023	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,64:64:99:1|1:153003287_C_A:2479,190,0
chr1	153003353	rs1970328	A	G	3133.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.85;QD=29.75;SOR=0.85;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1970328;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|SPRR3|SPRR3|transcript|NM_001097589.1|protein_coding|2/2|c.333A>G|p.Glu111Glu|399/902|333/510|111/169||,G|synonymous_variant|LOW|SPRR3|SPRR3|transcript|NM_005416.2|protein_coding|3/3|c.333A>G|p.Glu111Glu|483/986|333/510|111/169||;p3_1000G_AA=-|||;p3_1000G_AC=2629;p3_1000G_AF=0.52496;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=19495;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152975829;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2313,2093;ESP6500_AA_AGE=572.9+/-383.4;ESP6500_AA_GTC=595,1123,485;ESP6500_CDS_SIZES=NM_005416.2:510,NM_001097589.1:510;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=87;ESP6500_EA_AC=4673,3927;ESP6500_EA_AGE=547.6+/-385.2;ESP6500_EA_GTC=1279,2115,906;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005416.2:coding-synonymous,NM_001097589.1:coding-synonymous;ESP6500_GL=SPRR3;ESP6500_GRCh38_POSITION=1:153003353;ESP6500_GTC=1874,3238,1391;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005416.2:c.333A>G,NM_001097589.1:c.333A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005416.2:p.(E111),NM_001097589.1:p.(E111);ESP6500_MAF=45.6628,47.5034,46.2863;ESP6500_TAC=6986,6020	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,80:80:99:1|1:153003287_C_A:3162,247,0
chr1	153003465	rs1055935	C	G	2155.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.77;SOR=1.234;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1055935;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|SPRR3|SPRR3|transcript|NM_001097589.1|protein_coding|2/2|c.445C>G|p.Leu149Val|511/902|445/510|149/169||,G|missense_variant|MODERATE|SPRR3|SPRR3|transcript|NM_005416.2|protein_coding|3/3|c.445C>G|p.Leu149Val|595/986|445/510|149/169||;p3_1000G_AA=G|||;p3_1000G_AC=2922;p3_1000G_AF=0.583466;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=19882;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152975941;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3017,1389;ESP6500_AA_AGE=456.3+/-351.3;ESP6500_AA_GTC=1020,977,206;ESP6500_CDS_SIZES=NM_005416.2:510,NM_001097589.1:510;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=76;ESP6500_EA_AC=4681,3919;ESP6500_EA_AGE=547.5+/-385.2;ESP6500_EA_GTC=1284,2113,903;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005416.2:missense,NM_001097589.1:missense;ESP6500_GL=SPRR3;ESP6500_GRCh38_POSITION=1:153003465;ESP6500_GS=32,32;ESP6500_GTC=2304,3090,1109;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005416.2:c.445C>G,NM_001097589.1:c.445C>G;ESP6500_HGVS_PROTEIN_VAR=NM_005416.2:p.(L149V),NM_001097589.1:p.(L149V);ESP6500_MAF=45.5698,31.5252,40.8119;ESP6500_PH=benign:0.002,benign:0.002;ESP6500_TAC=7698,5308	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2184,186,0
chr1	153032176	rs1334849	G	A	261.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1334849;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|SPRR1B|SPRR1B|transcript|NM_003125.2|protein_coding|1/1|c.-19-151G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=17771;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153004652;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:290,24,0
chr1	153032245	rs1334848	A	T	855.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=2.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1334848;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|SPRR1B|SPRR1B|transcript|NM_003125.2|protein_coding|1/1|c.-19-82A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=18202;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153004721;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:884,81,0
chr1	153032302	rs3820141	C	T	1367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820141;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SPRR1B|SPRR1B|transcript|NM_003125.2|protein_coding|1/1|c.-19-25C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=16806;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153004778;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2036,2370;ESP6500_AA_AGE=593.3+/-388.0;ESP6500_AA_GTC=482,1072,649;ESP6500_CDS_SIZES=NM_003125.2:270;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=4351,4249;ESP6500_EA_AGE=555.7+/-386.7;ESP6500_EA_GTC=1128,2095,1077;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003125.2:intron;ESP6500_GL=SPRR1B;ESP6500_GRCh38_POSITION=1:153032302;ESP6500_GTC=1610,3167,1726;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003125.2:c.-44C>T;ESP6500_MAF=49.407,46.2097,49.1081;ESP6500_TAC=6387,6619	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1396,135,0
chr1	153032333	rs3181787	T	C	1691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.71;SOR=1.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3181787;dbSNPBuildID=108;ANN=C|5_prime_UTR_variant|MODIFIER|SPRR1B|SPRR1B|transcript|NM_003125.2|protein_coding|2/2|c.-13T>C|||||13|;p3_1000G_AA=C|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=16672;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153004809;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2065,2341;ESP6500_AA_AGE=606.0+/-390.6;ESP6500_AA_GTC=480,1105,618;ESP6500_CDS_SIZES=NM_003125.2:270;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=119;ESP6500_EA_AC=4393,4207;ESP6500_EA_AGE=569.2+/-389.2;ESP6500_EA_GTC=1128,2137,1035;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003125.2:utr-5;ESP6500_GL=SPRR1B;ESP6500_GRCh38_POSITION=1:153032333;ESP6500_GTC=1608,3242,1653;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003125.2:c.-13T>C;ESP6500_MAF=48.9186,46.8679,49.654;ESP6500_TAC=6458,6548	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1720,141,0
chr1	153032372	rs3795381	T	C	2314.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.98;QD=28.46;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795381;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|SPRR1B|SPRR1B|transcript|NM_003125.2|protein_coding|2/2|c.27T>C|p.Pro9Pro|91/619|27/270|9/89||;p3_1000G_AA=C|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=16307;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153004848;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2068,2338;ESP6500_AA_AGE=603.3+/-390.1;ESP6500_AA_GTC=482,1104,617;ESP6500_CDS_SIZES=NM_003125.2:270;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=141;ESP6500_EA_AC=4392,4208;ESP6500_EA_AGE=568.8+/-389.1;ESP6500_EA_GTC=1128,2136,1036;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003125.2:coding-synonymous;ESP6500_GL=SPRR1B;ESP6500_GRCh38_POSITION=1:153032372;ESP6500_GTC=1610,3240,1653;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003125.2:c.27T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003125.2:p.(P9);ESP6500_MAF=48.9302,46.936,49.6694;ESP6500_TAC=6460,6546	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,53:53:99:1|1:153032372_T_C:2343,160,0
chr1	153032377	rs3795382	C	T	2310.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.98;QD=30.39;SOR=1.036;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795382;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|SPRR1B|SPRR1B|transcript|NM_003125.2|protein_coding|2/2|c.32C>T|p.Thr11Ile|96/619|32/270|11/89||,T|sequence_feature|MODERATE|SPRR1B|SPRR1B|modified-residue:phosphothreonine|NM_003125.2|protein_coding|2/2|c.32C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=16011;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153004853;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2068,2338;ESP6500_AA_AGE=570.8+/-382.9;ESP6500_AA_GTC=482,1104,617;ESP6500_CDS_SIZES=NM_003125.2:270;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=139;ESP6500_EA_AC=4392,4208;ESP6500_EA_AGE=584.4+/-391.7;ESP6500_EA_GTC=1128,2136,1036;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003125.2:missense;ESP6500_GL=SPRR1B;ESP6500_GRCh38_POSITION=1:153032377;ESP6500_GS=89;ESP6500_GTC=1610,3240,1653;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003125.2:c.32C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003125.2:p.(T11I);ESP6500_MAF=48.9302,46.936,49.6694;ESP6500_PH=benign:0.0;ESP6500_TAC=6460,6546	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,52:52:99:1|1:153032372_T_C:2339,160,0
chr1	153032507	rs12195	C	T	1836.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.93;QD=32.8;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12195;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|SPRR1B|SPRR1B|transcript|NM_003125.2|protein_coding|2/2|c.162C>T|p.Pro54Pro|226/619|162/270|54/89||;p3_1000G_AA=T|||;p3_1000G_AC=2492;p3_1000G_AF=0.497604;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=14910;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153004983;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2076,2330;ESP6500_AA_AGE=605.2+/-390.5;ESP6500_AA_GTC=490,1096,617;ESP6500_CDS_SIZES=NM_003125.2:270;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=113;ESP6500_EA_AC=4494,4102;ESP6500_EA_AGE=561.2+/-387.7;ESP6500_EA_GTC=1233,2028,1037;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003125.2:coding-synonymous;ESP6500_GL=SPRR1B;ESP6500_GRCh38_POSITION=1:153032507;ESP6500_GTC=1723,3124,1654;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003125.2:c.162C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003125.2:p.(P54);ESP6500_MAF=47.7199,47.1176,49.4693;ESP6500_TAC=6570,6432	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1865,168,0
chr1	153032680	rs2711	C	T	1840.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.32;SOR=1.341;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2711;dbSNPBuildID=36;ANN=T|3_prime_UTR_variant|MODIFIER|SPRR1B|SPRR1B|transcript|NM_003125.2|protein_coding|2/2|c.*65C>T|||||65|;p3_1000G_AA=C|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=19456;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153005156;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1869,195,0
chr1	153040289	rs1846857	T	C	1631.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.4;QD=34.72;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1846857;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|SPRR2D|SPRR2D|transcript|NM_006945.4|protein_coding|2/2|c.58A>G|p.Thr20Ala|118/682|58/219|20/72||;p3_1000G_AA=t|||;p3_1000G_AC=901;p3_1000G_AF=0.179912;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=16828;p3_1000G_EAS_AF=0.5149;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153012765;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=208,4182;ESP6500_AA_GTC=6,196,1993;ESP6500_CDS_SIZES=NM_006945.4:219;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=47;ESP6500_EA_AC=11,8519;ESP6500_EA_GTC=0,11,4254;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006945.4:missense;ESP6500_GL=SPRR2D;ESP6500_GRCh38_POSITION=1:153040289;ESP6500_GS=58;ESP6500_GTC=6,207,6247;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006945.4:c.58A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006945.4:p.(T20A);ESP6500_MAF=0.129,4.738,1.695;ESP6500_PH=benign:0.004;ESP6500_TAC=219,12701	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1660,141,0
chr1	153093596	rs3737865	T	C	968.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.54;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0.96;MLEAC=1;MLEAF=0.5;MQ=55.2;MQRankSum=-5.648;QD=16.15;ReadPosRankSum=-0.428;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737865;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|SPRR2E|SPRR2E|transcript|NM_001024209.3|protein_coding|2/2|c.156A>G|p.Gln52Gln|220/681|156/219|52/72||;p3_1000G_AA=t|||;p3_1000G_AC=1223;p3_1000G_AF=0.244209;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=19951;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153066072;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=268,4138;ESP6500_AA_GTC=57,154,1992;ESP6500_CDS_SIZES=NM_001024209.2:219;ESP6500_CG=-1.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=232;ESP6500_EA_AC=116,8484;ESP6500_EA_GTC=11,94,4195;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001024209.2:coding-synonymous;ESP6500_GL=SPRR2E;ESP6500_GRCh38_POSITION=1:153093596;ESP6500_GTC=68,248,6187;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001024209.2:c.156A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001024209.2:p.(Q52);ESP6500_MAF=1.3488,6.0826,2.9525;ESP6500_TAC=384,12622	GT:AD:DP:GQ:PL	0/1:29,31:60:99:997,0,828
chr1	153093786	rs1933388	T	C	1130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=0.718;MLEAC=1;MLEAF=0.5;MQ=59.67;MQRankSum=-1.247;QD=10.47;ReadPosRankSum=-0.806;SOR=0.794;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1933388;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|SPRR2E|SPRR2E|transcript|NM_001024209.3|protein_coding|1/1|c.-19-16A>G||||||;ESP6500_AA=C;ESP6500_AA_AC=1919,2487;ESP6500_AA_GTC=279,1361,563;ESP6500_CDS_SIZES=NM_001024209.2:219;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=48;ESP6500_EA_AC=2882,5716;ESP6500_EA_GTC=9,2864,1426;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001024209.2:intron;ESP6500_GL=SPRR2E;ESP6500_GRCh38_POSITION=1:153093786;ESP6500_GTC=288,4225,1989;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001024209.2:c.-35A>G;ESP6500_MAF=33.5194,43.5542,36.9194;ESP6500_TAC=4801,8203	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1159,0,1423
chr1	153261034	rs6661601	A	G	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.921;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6661601;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|LOR|LOR|transcript|NM_000427.2|protein_coding|2/2|c.85A>G|p.Ser29Gly|139/1229|85/939|29/312||;p3_1000G_AA=A|||;p3_1000G_AC=912;p3_1000G_AF=0.182109;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=6822;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.3419;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153233510;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:136,0,135
chr1	153261515	rs11272549;rs561634896;rs11275959	A	ACTCTGGCGGCGG	175.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.97;ReadPosRankSum=-0.545;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11272549,rs11275959;dbSNPBuildID=142,130;ANN=ACTCTGGCGGCGG|conservative_inframe_insertion|MODERATE|LOR|LOR|transcript|NM_000427.2|protein_coding|2/2|c.574_585dupGGCGGCTCTGGC|p.Gly192_Gly195dup|640/1229|586/939|196/312||INFO_REALIGN_3_PRIME;p3_1000G_AC=3247;p3_1000G_AF=0.648363;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=5032;p3_1000G_EAS_AF=0.4563;p3_1000G_EUR_AF=0.7147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153233991;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6493;p3_1000G_VT=INDEL;ESP6500_AA_AC=178,190;ESP6500_AA_GTC=86,6,92;ESP6500_CDS_SIZES=NM_000427.2:939;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=1;ESP6500_EA_AC=749,435;ESP6500_EA_GTC=350,49,193;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000427.2:coding;ESP6500_GL=LOR;ESP6500_GRCh38_POSITION=1:153261515;ESP6500_GTC=436,55,285;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000427.2:c.566_567insCTCTGGCGGCGG;ESP6500_HGVS_PROTEIN_VAR=NM_000427.2:p.(Y189delinsYSGGG);ESP6500_MAF=36.7399,48.3696,40.2706;ESP6500_TAC=927,625	GT:AD:DP:GQ:PL	0/1:4,4:8:99:213,0,432
chr1	153297886	rs2771110	C	G	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.62;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.79;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2771110;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|PGLYRP3|PGLYRP3|transcript|NM_052891.2|protein_coding|7/7|c.*70G>C|||||70|;p3_1000G_AA=g|||;p3_1000G_AC=2711;p3_1000G_AF=0.541334;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=17807;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153270362;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:365,0,396
chr1	153299048	rs821431	C	T	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.604;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=7.627;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-2.059;SOR=0.077;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs821431;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PGLYRP3|PGLYRP3|transcript|NM_052891.2|protein_coding|6/6|c.847+65G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2792;p3_1000G_AF=0.557508;p3_1000G_AFR_AF=0.5719;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=19110;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153271524;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,15:28:99:373,0,435
chr1	153304947	rs843971	C	T	962.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.437;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=2.942;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.364;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs843971;dbSNPBuildID=86;ANN=T|missense_variant&splice_region_variant|MODERATE|PGLYRP3|PGLYRP3|transcript|NM_052891.2|protein_coding|3/7|c.376G>A|p.Gly126Ser|429/1173|376/1026|126/341||;p3_1000G_AA=C|||;p3_1000G_AC=2353;p3_1000G_AF=0.469848;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=20058;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153277423;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1690,2716;ESP6500_AA_AGE=509.9+/-367.4;ESP6500_AA_GTC=337,1016,850;ESP6500_CDS_SIZES=NM_052891.1:1026;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=119;ESP6500_EA_AC=3316,5284;ESP6500_EA_AGE=494.4+/-373.8;ESP6500_EA_GTC=657,2002,1641;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052891.1:missense-near-splice;ESP6500_GL=PGLYRP3;ESP6500_GRCh38_POSITION=1:153304947;ESP6500_GS=56;ESP6500_GTC=994,3018,2491;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052891.1:c.376G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052891.1:p.(G126S);ESP6500_MAF=38.5581,38.3568,38.4899;ESP6500_PH=possibly-damaging:0.911;ESP6500_TAC=5006,8000	GT:AD:DP:GQ:PL	0/1:44,38:82:99:991,0,1109
chr1	153306986	rs377019962;rs66966700	TAAG	T	547.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=3.767;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66966700,rs377019962;dbSNPBuildID=130,138;ANN=T|intron_variant|MODIFIER|PGLYRP3|PGLYRP3|transcript|NM_052891.2|protein_coding|2/6|c.257+77_257+79delCTT||||||;p3_1000G_AC=3959;p3_1000G_AF=0.790535;p3_1000G_AFR_AF=0.6997;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=20235;p3_1000G_EAS_AF=0.7857;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153279462;p3_1000G_GRCH37_REF=TAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,13:13:39:585,39,0
chr1	153310528	rs821423	C	T	554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs821423;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PGLYRP3|PGLYRP3|transcript|NM_052891.2|protein_coding|1/6|c.55+83G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4227;p3_1000G_AF=0.84405;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=19556;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.8658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153283004;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:583,54,0
chr1	153341677	rs3006448	C	A	1726.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.85;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3006448;dbSNPBuildID=101;ANN=A|missense_variant|MODERATE|PGLYRP4|PGLYRP4|transcript|NM_020393.3|protein_coding|6/9|c.575G>T|p.Gly192Val|935/2128|575/1122|192/373||;p3_1000G_AA=A|||;p3_1000G_AC=4229;p3_1000G_AF=0.844449;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=19186;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.8767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153314153;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3392,1014;ESP6500_AA_AGE=377.3+/-322.4;ESP6500_AA_GTC=1292,808,103;ESP6500_CDS_SIZES=NM_020393.2:1122;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=115;ESP6500_EA_AC=7323,1277;ESP6500_EA_AGE=253.4+/-279.1;ESP6500_EA_GTC=3115,1093,92;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020393.2:missense;ESP6500_GL=PGLYRP4;ESP6500_GRCh38_POSITION=1:153341677;ESP6500_GS=109;ESP6500_GTC=4407,1901,195;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020393.2:c.575G>T;ESP6500_HGVS_PROTEIN_VAR=NM_020393.2:p.(G192V);ESP6500_MAF=14.8488,23.0141,17.6149;ESP6500_PH=benign:0.0;ESP6500_TAC=10715,2291	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1755,186,0
chr1	153341871	rs3006449	C	T	302.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.64;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3006449;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|PGLYRP4|PGLYRP4|transcript|NM_020393.3|protein_coding|5/8|c.473-92G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3979;p3_1000G_AF=0.794529;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=19329;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153314347;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:331,27,0
chr1	153342991	rs397818510;rs5777858	T	TAAG	1416.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5777858;dbSNPBuildID=130,138;ANN=TAAG|intron_variant|MODIFIER|PGLYRP4|PGLYRP4|transcript|NM_020393.3|protein_coding|5/8|c.472+96_472+98dupCTT||||||;p3_1000G_AC=4646;p3_1000G_AF=0.927716;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=22142;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153315467;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1454,99,0
chr1	153343103	rs3014863	A	G	2165.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=1.131;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3014863;dbSNPBuildID=101;ANN=G|synonymous_variant|LOW|PGLYRP4|PGLYRP4|transcript|NM_020393.3|protein_coding|5/9|c.459T>C|p.Phe153Phe|819/2128|459/1122|153/373||;p3_1000G_AA=G|||;p3_1000G_AC=4643;p3_1000G_AF=0.927117;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=20804;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.9165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153315579;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4298,108;ESP6500_AA_AGE=85.3+/-124.0;ESP6500_AA_GTC=2095,108,0;ESP6500_CDS_SIZES=NM_020393.2:1122;ESP6500_CG=-9.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=139;ESP6500_EA_AC=7842,758;ESP6500_EA_AGE=181.0+/-229.8;ESP6500_EA_GTC=3579,684,37;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020393.2:coding-synonymous;ESP6500_GL=PGLYRP4;ESP6500_GRCh38_POSITION=1:153343103;ESP6500_GTC=5674,792,37;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020393.2:c.459T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020393.2:p.(F153);ESP6500_MAF=8.814,2.4512,6.6585;ESP6500_TAC=12140,866	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2194,207,0
chr1	153343308	rs1865234	T	C	752.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.86;SOR=4.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1865234;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|PGLYRP4|PGLYRP4|transcript|NM_020393.3|protein_coding|4/8|c.354-100A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4648;p3_1000G_AF=0.928115;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=22982;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153315784;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:781,57,0
chr1	153347858	rs3006457	T	C	623.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3006457;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|PGLYRP4|PGLYRP4|transcript|NM_020393.3|protein_coding|2/8|c.49+26A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4225;p3_1000G_AF=0.84365;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=19299;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.8767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153320334;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3380,1026;ESP6500_AA_AGE=367.8+/-318.4;ESP6500_AA_GTC=1285,810,108;ESP6500_CDS_SIZES=NM_020393.2:1122;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=43;ESP6500_EA_AC=7318,1280;ESP6500_EA_AGE=246.9+/-275.2;ESP6500_EA_GTC=3113,1092,94;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020393.2:intron;ESP6500_GL=PGLYRP4;ESP6500_GRCh38_POSITION=1:153347858;ESP6500_GTC=4398,1902,202;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020393.2:c.49+26A>G;ESP6500_MAF=14.8872,23.2864,17.733;ESP6500_TAC=10698,2306	GT:AD:DP:GQ:PL	1/1:0,17:17:51:652,51,0
chr1	153347896	rs3006458	T	G	798.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3006458;dbSNPBuildID=101;ANN=G|missense_variant|MODERATE|PGLYRP4|PGLYRP4|transcript|NM_020393.3|protein_coding|2/9|c.37A>C|p.Ile13Leu|397/2128|37/1122|13/373||;p3_1000G_AA=G|||;p3_1000G_AC=3977;p3_1000G_AF=0.794129;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=18896;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.8728;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153320372;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3223,1183;ESP6500_AA_AGE=413.5+/-336.5;ESP6500_AA_GTC=1163,897,143;ESP6500_CDS_SIZES=NM_020393.2:1122;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=52;ESP6500_EA_AC=7289,1311;ESP6500_EA_AGE=257.6+/-281.6;ESP6500_EA_GTC=3087,1115,98;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020393.2:missense;ESP6500_GL=PGLYRP4;ESP6500_GRCh38_POSITION=1:153347896;ESP6500_GS=5;ESP6500_GTC=4250,2012,241;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_020393.2:c.37A>C;ESP6500_HGVS_PROTEIN_VAR=NM_020393.2:p.(I13L);ESP6500_MAF=15.2442,26.8498,19.1758;ESP6500_PH=benign:0.0;ESP6500_TAC=10512,2494	GT:AD:DP:GQ:PL	1/1:0,22:22:66:827,66,0
chr1	153417935	rs11434309;rs397740973	T	TA	783.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=2.67;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11434309;dbSNPBuildID=135,138;ANN=TA|intron_variant|MODIFIER|S100A7A|S100A7A|transcript|NM_176823.3|protein_coding|1/2|c.-17-124dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|S100A8|S100A8|transcript|NM_001319198.1|protein_coding|1/2|c.2+4582dupT||||||	GT:AD:DP:GQ:PL	1/1:0,26:26:81:821,81,0
chr1	153419320	rs376482233	C	A	392.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.378;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.48;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.951;SOR=1.186;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376482233;dbSNPBuildID=138;ANN=A|3_prime_UTR_variant|MODIFIER|S100A7A|S100A7A|transcript|NM_176823.3|protein_coding|3/3|c.*11C>A|||||11|,A|intron_variant|MODIFIER|S100A8|S100A8|transcript|NM_001319198.1|protein_coding|1/2|c.2+3198G>T||||||;ESP6500_AA=C;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_176823.3:306;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=35;ESP6500_EA_AC=2,8598;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_176823.3:utr-3;ESP6500_GL=S100A7A;ESP6500_GRCh38_POSITION=1:153419320;ESP6500_GTC=0,2,6501;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_176823.3:c.*11C>A;ESP6500_MAF=0.0233,0.0,0.0154;ESP6500_TAC=2,13004	GT:AD:DP:GQ:PL	0/1:18,17:35:99:421,0,540
chr1	153438346	rs10888561	C	A	1313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.775;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888561;dbSNPBuildID=120;ANN=A|missense_variant&splice_region_variant|MODERATE|S100A7L2|S100A7L2|transcript|NM_001045479.1|protein_coding|2/3|c.17G>T|p.Gly6Val|95/480|17/339|6/112||;p3_1000G_AA=C|||;p3_1000G_AC=3076;p3_1000G_AF=0.614217;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=22923;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153410822;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2349,2057;ESP6500_AA_GTC=632,1085,486;ESP6500_CDS_SIZES=NM_001045479.1:339;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=100;ESP6500_EA_AC=6331,2269;ESP6500_EA_GTC=2331,1669,300;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001045479.1:missense-near-splice;ESP6500_GL=S100A7L2;ESP6500_GRCh38_POSITION=1:153438346;ESP6500_GS=109;ESP6500_GTC=2963,2754,786;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001045479.1:c.17G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001045479.1:p.(G6V);ESP6500_MAF=26.3837,46.6863,33.2616;ESP6500_TAC=8680,4326	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1342,129,0
chr1	153439916	rs3006428	T	G	1558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=1.314;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3006428;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|S100A7L2|S100A7L2|transcript|NM_001045479.1|protein_coding|1/2|c.16+18A>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=4137;p3_1000G_AF=0.826078;p3_1000G_AFR_AF=0.9599;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=21424;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153412392;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1309,75;ESP6500_AA_GTC=619,71,2;ESP6500_CDS_SIZES=NM_001045479.1:339;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=150;ESP6500_EA_AC=2672,510;ESP6500_EA_GTC=1121,430,40;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001045479.1:intron;ESP6500_GL=S100A7L2;ESP6500_GRCh38_POSITION=1:153439916;ESP6500_GTC=1740,501,42;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001045479.1:c.16+18A>C;ESP6500_MAF=16.0277,5.4191,12.8121;ESP6500_TAC=3981,585	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1587,151,0
chr1	153457773	rs35971850;rs397860677	TG	T	853.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.362;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.47;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35971850;dbSNPBuildID=137,138;ANN=T|3_prime_UTR_variant|MODIFIER|S100A7|S100A7|transcript|NM_002963.3|protein_coding|3/3|c.*32delC|||||32|;p3_1000G_AA=GGGG|GGGG|GGG|deletion;p3_1000G_AC=1271;p3_1000G_AF=0.253794;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=16064;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.2594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153430249;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=INDEL;ESP6500_AA_AC=256,4010;ESP6500_AA_GTC=14,228,1891;ESP6500_CDS_SIZES=NM_002963.3:306;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=41;ESP6500_EA_AC=2114,6140;ESP6500_EA_GTC=281,1552,2294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002963.3:utr-3;ESP6500_GL=S100A7;ESP6500_GRCh38_POSITION=1:153457773;ESP6500_GTC=295,1780,4185;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002963.3:c.*32del1;ESP6500_MAF=25.6118,6.0009,18.9297;ESP6500_TAC=2370,10150	GT:AD:DP:GQ:PL	0/1:28,31:59:99:891,0,763
chr1	153458930	rs3014837	C	G	4119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=127;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.93;QD=32.7;SOR=0.899;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3014837;dbSNPBuildID=101;ANN=G|missense_variant|MODERATE|S100A7|S100A7|transcript|NM_002963.3|protein_coding|2/3|c.84G>C|p.Glu28Asp|155/439|84/306|28/101||;p3_1000G_AA=G|||;p3_1000G_AC=4925;p3_1000G_AF=0.983427;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=20597;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9573;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153431406;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4341,65;ESP6500_AA_GTC=2138,65,0;ESP6500_CDS_SIZES=NM_002963.3:306;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=212;ESP6500_EA_AC=8118,482;ESP6500_EA_GTC=3835,448,17;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002963.3:missense;ESP6500_GL=S100A7;ESP6500_GRCh38_POSITION=1:153458930;ESP6500_GS=45;ESP6500_GTC=5973,513,17;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002963.3:c.84G>C;ESP6500_HGVS_PROTEIN_VAR=NM_002963.3:p.(E28D);ESP6500_MAF=5.6047,1.4753,4.2058;ESP6500_PH=benign:0.0;ESP6500_TAC=12459,547	GT:AD:DP:GQ:PL	1/1:0,126:126:99:4148,378,0
chr1	153614832	rs11548104	C	T	678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11548104;dbSNPBuildID=120;ANN=T|3_prime_UTR_variant|MODIFIER|S100A14|S100A14|transcript|NM_020672.2|protein_coding|4/4|c.*53G>A|||||53|,T|upstream_gene_variant|MODIFIER|S100A16|S100A16|transcript|NM_080388.2|protein_coding||c.-6681G>A|||||1664|,T|upstream_gene_variant|MODIFIER|S100A16|S100A16|transcript|NR_133645.1|pseudogene||n.-1664G>A|||||1664|,T|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024210.1|protein_coding||c.*4063G>A|||||3968|,T|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024213.1|protein_coding||c.*4063G>A|||||3968|,T|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024212.1|protein_coding||c.*4063G>A|||||3968|,T|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024211.1|protein_coding||c.*4063G>A|||||3968|,T|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_005979.2|protein_coding||c.*4063G>A|||||3968|;p3_1000G_AA=T|||;p3_1000G_AC=3316;p3_1000G_AF=0.662141;p3_1000G_AFR_AF=0.77;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=15290;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.5149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153587308;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:707,63,0
chr1	153615732	rs9792963	G	A	975.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9792963;dbSNPBuildID=119;ANN=A|upstream_gene_variant|MODIFIER|S100A16|S100A16|transcript|NM_080388.2|protein_coding||c.-7581C>T|||||2564|,A|upstream_gene_variant|MODIFIER|S100A16|S100A16|transcript|NR_133645.1|pseudogene||n.-2564C>T|||||2564|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024210.1|protein_coding||c.*3163C>T|||||3068|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024213.1|protein_coding||c.*3163C>T|||||3068|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024212.1|protein_coding||c.*3163C>T|||||3068|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024211.1|protein_coding||c.*3163C>T|||||3068|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_005979.2|protein_coding||c.*3163C>T|||||3068|,A|intron_variant|MODIFIER|S100A14|S100A14|transcript|NM_020672.2|protein_coding|2/3|c.30+97C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2115;p3_1000G_AF=0.422324;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=19914;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.4612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153588208;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1004,87,0
chr1	153615803	rs9792967	G	A	1780.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=1.524;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9792967;dbSNPBuildID=119;ANN=A|upstream_gene_variant|MODIFIER|S100A16|S100A16|transcript|NM_080388.2|protein_coding||c.-7652C>T|||||2635|,A|upstream_gene_variant|MODIFIER|S100A16|S100A16|transcript|NR_133645.1|pseudogene||n.-2635C>T|||||2635|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024210.1|protein_coding||c.*3092C>T|||||2997|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024213.1|protein_coding||c.*3092C>T|||||2997|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024212.1|protein_coding||c.*3092C>T|||||2997|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024211.1|protein_coding||c.*3092C>T|||||2997|,A|downstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_005979.2|protein_coding||c.*3092C>T|||||2997|,A|intron_variant|MODIFIER|S100A14|S100A14|transcript|NM_020672.2|protein_coding|2/3|c.30+26C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2115;p3_1000G_AF=0.422324;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=19274;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.4612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153588279;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=679,3727;ESP6500_AA_AGE=284.9+/-277.9;ESP6500_AA_GTC=56,567,1580;ESP6500_CDS_SIZES=NM_020672.2:315;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=184;ESP6500_EA_AC=4154,4446;ESP6500_EA_AGE=561.8+/-387.8;ESP6500_EA_GTC=1005,2144,1151;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020672.2:intron;ESP6500_GL=S100A14;ESP6500_GRCh38_POSITION=1:153615803;ESP6500_GTC=1061,2711,2731;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020672.2:c.30+26C>T;ESP6500_MAF=48.3023,15.4108,37.1598;ESP6500_TAC=4833,8173	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1809,159,0
chr1	153628302	rs3806233	G	A	892.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.34;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3806233;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|S100A1|S100A1|transcript|NM_006271.1|protein_coding||c.-2220G>A|||||95|,A|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024213.1|protein_coding||c.-1830C>T|||||1254|,A|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024212.1|protein_coding||c.-1830C>T|||||1034|,A|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024211.1|protein_coding||c.-1830C>T|||||661|,A|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_005979.2|protein_coding||c.-1830C>T|||||63|,A|intron_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024210.1|protein_coding|3/4|c.-61-1769C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2239;p3_1000G_AF=0.447085;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=14443;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153600778;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:77:921,77,0
chr1	153631553	rs1046379	C	T	1551.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1046379;dbSNPBuildID=86;ANN=T|upstream_gene_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001206612.1|protein_coding||c.-5036C>T|||||2429|,T|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024213.1|protein_coding||c.-5081G>A|||||4505|,T|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024212.1|protein_coding||c.-5081G>A|||||4285|,T|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024211.1|protein_coding||c.-5081G>A|||||3912|,T|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_005979.2|protein_coding||c.-5081G>A|||||3314|,T|upstream_gene_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001244664.1|protein_coding||c.-5036C>T|||||2429|,T|upstream_gene_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001317077.1|protein_coding||c.-5036C>T|||||2429|,T|upstream_gene_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_015607.3|protein_coding||c.-5036C>T|||||2429|,T|intron_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024210.1|protein_coding|2/4|c.-162-442G>A||||||,T|intron_variant|MODIFIER|S100A1|S100A1|transcript|NM_006271.1|protein_coding|2/2|c.142-145C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4324;p3_1000G_AF=0.863419;p3_1000G_AFR_AF=0.9909;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=17588;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.7147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153604029;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1580,156,0
chr1	153631636	rs1046381	G	A	1557.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.54;SOR=0.9;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1046381;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001206612.1|protein_coding||c.-4953G>A|||||2346|,A|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024213.1|protein_coding||c.-5164C>T|||||4588|,A|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024212.1|protein_coding||c.-5164C>T|||||4368|,A|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024211.1|protein_coding||c.-5164C>T|||||3995|,A|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_005979.2|protein_coding||c.-5164C>T|||||3397|,A|upstream_gene_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001244664.1|protein_coding||c.-4953G>A|||||2346|,A|upstream_gene_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001317077.1|protein_coding||c.-4953G>A|||||2346|,A|upstream_gene_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_015607.3|protein_coding||c.-4953G>A|||||2346|,A|intron_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024210.1|protein_coding|2/4|c.-163+398C>T||||||,A|intron_variant|MODIFIER|S100A1|S100A1|transcript|NM_006271.1|protein_coding|2/2|c.142-62G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2946;p3_1000G_AF=0.588259;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=14487;p3_1000G_EAS_AF=0.6825;p3_1000G_EUR_AF=0.5249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153604112;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1586,153,0
chr1	153636563	rs4845557	T	C	1014.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.19;SOR=1.547;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845557;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|S100A13|S100A13|transcript|NM_001024210.1|protein_coding||c.-10091A>G|||||2471|,C|downstream_gene_variant|MODIFIER|S100A1|S100A1|transcript|NM_006271.1|protein_coding||c.*4722T>C|||||4526|,C|intron_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001206612.1|protein_coding|1/5|c.-17-9T>C||||||,C|intron_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001244664.1|protein_coding|1/3|c.-17-9T>C||||||,C|intron_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_001317077.1|protein_coding|1/4|c.-17-9T>C||||||,C|intron_variant|MODIFIER|CHTOP|CHTOP|transcript|NM_015607.3|protein_coding|1/5|c.-17-9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3186;p3_1000G_AF=0.636182;p3_1000G_AFR_AF=0.612;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=18362;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.5258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153609039;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2660,1746;ESP6500_AA_AGE=521.9+/-370.6;ESP6500_AA_GTC=776,1108,319;ESP6500_CDS_SIZES=NM_015607.3:747,NM_001244664.1:231,NM_001206612.1:750;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=51;ESP6500_EA_AC=4732,3868;ESP6500_EA_AGE=542.0+/-384.1;ESP6500_EA_GTC=1300,2132,868;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015607.3:intron,NM_001244664.1:intron,NM_001206612.1:intron;ESP6500_GL=CHTOP;ESP6500_GRCh38_POSITION=1:153636563;ESP6500_GTC=2076,3240,1187;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015607.3:c.-26T>C,NM_001244664.1:c.-26T>C,NM_001206612.1:c.-26T>C;ESP6500_MAF=44.9767,39.6278,43.1647;ESP6500_TAC=7392,5614	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1043,107,0
chr1	153662949	rs3795396	G	A	1099.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795396;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NM_012437.5|protein_coding||c.*1648G>A|||||1097|,A|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052019.1|pseudogene||n.*1097G>A|||||1097|,A|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052020.1|pseudogene||n.*1097G>A|||||1097|,A|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_004515.3|protein_coding|12/13|c.921+70C>T||||||,A|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_001267809.1|protein_coding|12/13|c.807+70C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3243;p3_1000G_AF=0.647564;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=22598;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.5199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153635425;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1128,102,0
chr1	153663992	rs369602600	CTA	C	76.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369602600;dbSNPBuildID=138;ANN=C|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NM_012437.5|protein_coding||c.*2692_*2693delTA|||||2141|,C|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052019.1|pseudogene||n.*2141_*2142delTA|||||2141|,C|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052020.1|pseudogene||n.*2141_*2142delTA|||||2141|,C|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_004515.3|protein_coding|10/13|c.744+49_744+50delTA||||||,C|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_001267809.1|protein_coding|10/13|c.630+49_630+50delTA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,3:5:68:0|1:153663992_CTA_C:114,0,68
chr1	153663995	rs372540759;~rs74671045	CT	C	76.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.126;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.524;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs372540759;dbSNPBuildID=138;ANN=C|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NM_012437.5|protein_coding||c.*2695delT|||||2144|,C|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052019.1|pseudogene||n.*2144delT|||||2144|,C|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052020.1|pseudogene||n.*2144delT|||||2144|,C|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_004515.3|protein_coding|10/13|c.744+47delA||||||,C|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_001267809.1|protein_coding|10/13|c.630+47delA||||||;ESP6500_AA_AC=1,4,292,414,3555;ESP6500_AA_GTC=0,0,0,0,1,0,0,3,1,0,1,291,34,342,1460;ESP6500_CDS_SIZES=NM_004515.3:1173,NM_004515.3:1173,NM_004515.3:1173,NM_004515.3:1173,NM_001267809.1:1059,NM_001267809.1:1059,NM_001267809.1:1059,NM_001267809.1:1059;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=49;ESP6500_EA_AC=2,10,243,1731,6268;ESP6500_EA_GTC=0,0,0,2,0,1,0,6,2,5,22,211,291,1119,2468;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004515.3:intron,NM_004515.3:intron,NM_004515.3:intron,NM_004515.3:intron,NM_001267809.1:intron,NM_001267809.1:intron,NM_001267809.1:intron,NM_001267809.1:intron;ESP6500_GL=ILF2;ESP6500_GRCh38_POSITION=1:153663995;ESP6500_GTC=0,0,0,2,1,1,0,9,3,5,23,502,325,1461,3928;ESP6500_GTS=A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR;ESP6500_HGVS_CDNA_VAR=NM_004515.3:c.744+47del13,NM_004515.3:c.744+45_744+47del13,NM_004515.3:c.744+36_744+47del12,NM_004515.3:c.744+44_744+47del13,NM_001267809.1:c.630+47del13,NM_001267809.1:c.630+45_630+47del13,NM_001267809.1:c.630+36_630+47del12,NM_001267809.1:c.630+44_630+47del13;ESP6500_MAF=24.0611,16.6667,21.5415;ESP6500_TAC=3,14,535,2145,9823	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,3:5:68:0|1:153663992_CTA_C:114,0,68
chr1	153664384	rs4351684	A	G	1986.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=0.831;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4351684;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NM_012437.5|protein_coding||c.*3083A>G|||||2532|,G|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052019.1|pseudogene||n.*2532A>G|||||2532|,G|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052020.1|pseudogene||n.*2532A>G|||||2532|,G|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_004515.3|protein_coding|9/13|c.656+12T>C||||||,G|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_001267809.1|protein_coding|9/13|c.542+12T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3261;p3_1000G_AF=0.651158;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=19797;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.5199;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153636860;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2920,1486;ESP6500_AA_AGE=476.6+/-357.7;ESP6500_AA_GTC=953,1014,236;ESP6500_CDS_SIZES=NM_004515.3:1173,NM_001267809.1:1059;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=99;ESP6500_EA_AC=4658,3942;ESP6500_EA_AGE=549.2+/-385.5;ESP6500_EA_GTC=1259,2140,901;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004515.3:intron,NM_001267809.1:intron;ESP6500_GL=ILF2;ESP6500_GRCh38_POSITION=1:153664384;ESP6500_GTC=2212,3154,1137;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004515.3:c.656+12T>C,NM_001267809.1:c.542+12T>C;ESP6500_MAF=45.8372,33.7267,41.7346;ESP6500_TAC=7578,5428	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2015,180,0
chr1	153665141	rs3862047	G	A	605.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.85;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3862047;dbSNPBuildID=108;ANN=A|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NM_012437.5|protein_coding||c.*3840G>A|||||3289|,A|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052019.1|pseudogene||n.*3289G>A|||||3289|,A|downstream_gene_variant|MODIFIER|SNAPIN|SNAPIN|transcript|NR_052020.1|pseudogene||n.*3289G>A|||||3289|,A|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_004515.3|protein_coding|8/13|c.577+79C>T||||||,A|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_001267809.1|protein_coding|8/13|c.463+79C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2354;p3_1000G_AF=0.470048;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=19324;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153637617;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:634,63,0
chr1	153668189	rs10797096	G	A	205.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10797096;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_004515.3|protein_coding|4/13|c.214-112C>T||||||,A|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_001267809.1|protein_coding|4/13|c.100-112C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2361;p3_1000G_AF=0.471446;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=20925;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153640665;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:234,18,0
chr1	153670359	rs6663046	G	C	969.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.29;SOR=3.18;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6663046;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_004515.3|protein_coding|1/13|c.6-129C>G||||||,C|intron_variant|MODIFIER|ILF2|ILF2|transcript|NM_001267809.1|protein_coding|1/13|c.-128-129C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17299;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153642835;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:998,81,0
chr1	153683876	rs9662664	T	G	1029.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9662664;dbSNPBuildID=119;ANN=G|sequence_feature|LOW|NPR1|NPR1|topological-domain:Cytoplasmic|NM_000906.3|protein_coding|7/21|c.1484+52T>G||||||,G|intron_variant|MODIFIER|NPR1|NPR1|transcript|NM_000906.3|protein_coding|7/21|c.1484+52T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2325;p3_1000G_AF=0.464257;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=17315;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153656352;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=661,1993;ESP6500_AA_GTC=94,473,760;ESP6500_CDS_SIZES=NM_000906.3:3186;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=34;ESP6500_EA_AC=2083,2535;ESP6500_EA_GTC=470,1143,696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000906.3:intron;ESP6500_GL=NPR1;ESP6500_GRCh38_POSITION=1:153683876;ESP6500_GTC=564,1616,1456;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000906.3:c.1484+52T>G;ESP6500_MAF=45.1061,24.9058,37.7338;ESP6500_TAC=2744,4528	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1058,84,0
chr1	153683929	rs9661993	C	G	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs374354321,rs9661993;dbSNPBuildID=119;ANN=G|sequence_feature|LOW|NPR1|NPR1|topological-domain:Cytoplasmic|NM_000906.3|protein_coding|7/21|c.1484+105C>G||||||,G|intron_variant|MODIFIER|NPR1|NPR1|transcript|NM_000906.3|protein_coding|7/21|c.1484+105C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3373;p3_1000G_AF=0.673522;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=18752;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.5199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153656405;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:873,69,0
chr1	153688038	rs11295572;rs397801974	AC	A	149.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.97;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11295572;dbSNPBuildID=134,138;ANN=A|splice_region_variant&intron_variant|LOW|NPR1|NPR1|transcript|NM_000906.3|protein_coding|14/21|c.2249-8delC||||||INFO_REALIGN_3_PRIME,A|downstream_gene_variant|MODIFIER|MIR8083|MIR8083|transcript|NR_107050.1|pseudogene||n.*1666delG|||||1666|;p3_1000G_AA=CCCCCC|CCCCCCC|CCCCCC|insertion;p3_1000G_AC=2355;p3_1000G_AF=0.470248;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=16180;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.4394;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153660514;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:187,18,0
chr1	153688898	rs34402066;rs397815088;rs552819881	CG	C	1910.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=1.747;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34402066;dbSNPBuildID=134,138;ANN=C|downstream_gene_variant|MODIFIER|MIR8083|MIR8083|transcript|NR_107050.1|pseudogene||n.*806delC|||||806|,C|intron_variant|MODIFIER|NPR1|NPR1|transcript|NM_000906.3|protein_coding|15/21|c.2418-53delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2347;p3_1000G_AF=0.46865;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=14688;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.4354;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153661374;p3_1000G_GRCH37_REF=CG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1948,157,0
chr1	153693443	rs397745541;rs5777879;~rs11441863	T	TC	970.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=2.019;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5777879;dbSNPBuildID=131,138;ANN=TC|3_prime_UTR_variant|MODIFIER|NPR1|NPR1|transcript|NM_000906.3|protein_coding|22/22|c.*32dupC|||||33|INFO_REALIGN_3_PRIME,TC|upstream_gene_variant|MODIFIER|MIR8083|MIR8083|transcript|NR_107050.1|pseudogene||n.-3651dupG|||||3651|;p3_1000G_AA=CCC|CCC|CCCC|insertion;p3_1000G_AC=2792;p3_1000G_AF=0.557508;p3_1000G_AFR_AF=0.4312;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=18505;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153665919;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5828;p3_1000G_VT=INDEL;ESP6500_AA_AC=1910,2356;ESP6500_AA_GTC=398,1114,621;ESP6500_CDS_SIZES=NM_000906.3:3186;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=40;ESP6500_EA_AC=4251,4001;ESP6500_EA_GTC=1086,2079,961;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000906.3:utr-3;ESP6500_GL=NPR1;ESP6500_GRCh38_POSITION=1:153693443;ESP6500_GTC=1484,3193,1582;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000906.3:c.*29_*30insC;ESP6500_MAF=48.4852,44.7726,49.2171;ESP6500_TAC=6161,6357	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1008,90,0
chr1	153770758	rs6675978	T	C	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.815;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.509;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6675978;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|SLC27A3|SLC27A3|transcript|NM_024330.1|protein_coding||c.-4599T>C|||||4534|,C|upstream_gene_variant|MODIFIER|SLC27A3|SLC27A3|transcript|NM_001317929.1|protein_coding||c.-4599T>C|||||4534|,C|intron_variant|MODIFIER|INTS3|INTS3|transcript|NM_001324475.1|protein_coding|26/30|c.2552+25T>C||||||,C|intron_variant|MODIFIER|INTS3|INTS3|transcript|NM_023015.4|protein_coding|25/29|c.2552+25T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2215;p3_1000G_AF=0.442292;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=16721;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.4264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153743234;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1387,3019;ESP6500_AA_AGE=454.5+/-350.7;ESP6500_AA_GTC=219,949,1035;ESP6500_CDS_SIZES=NM_023015.3:3129;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=35;ESP6500_EA_AC=3725,4875;ESP6500_EA_AGE=527.2+/-381.1;ESP6500_EA_GTC=812,2101,1387;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023015.3:intron;ESP6500_GL=INTS3;ESP6500_GRCh38_POSITION=1:153770758;ESP6500_GTC=1031,3050,2422;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_023015.3:c.2552+25T>C;ESP6500_MAF=43.314,31.4798,39.3049;ESP6500_TAC=5112,7894	GT:AD:DP:GQ:PL	0/1:19,23:42:99:567,0,402
chr1	153933921	rs11264621	A	G	1350.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11264621;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|DENND4B|DENND4B|transcript|NM_014856.2|protein_coding|19/27|c.2942-50T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3369;p3_1000G_AF=0.672724;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=17045;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153906397;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1197,753;ESP6500_AA_GTC=373,451,151;ESP6500_CDS_SIZES=NM_014856.2:4491;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=10;ESP6500_EA_AC=1903,1947;ESP6500_EA_GTC=472,959,494;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014856.2:intron;ESP6500_GL=DENND4B;ESP6500_GRCh38_POSITION=1:153933921;ESP6500_GTC=845,1410,645;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014856.2:c.2942-50T>C;ESP6500_MAF=49.4286,38.6154,46.5517;ESP6500_TAC=3100,2700	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1379,120,0
chr1	153941208	rs2297895	C	A	812.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.03;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297895;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DENND4B|DENND4B|transcript|NM_014856.2|protein_coding|8/27|c.1181+23G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=887;p3_1000G_AF=0.177117;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=21145;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.16;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153913684;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=152,4024;ESP6500_AA_GTC=0,152,1936;ESP6500_CDS_SIZES=NM_014856.2:4491;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=1067,7377;ESP6500_EA_GTC=79,909,3234;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014856.2:intron;ESP6500_GL=DENND4B;ESP6500_GRCh38_POSITION=1:153941208;ESP6500_GTC=79,1061,5170;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_014856.2:c.1181+23G>T;ESP6500_MAF=12.6362,3.6398,9.6593;ESP6500_TAC=1219,11401	GT:AD:DP:GQ:PL	1/1:0,29:29:86:841,86,0
chr1	153941294	rs2252508	A	G	1507.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=1.067;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2252508;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|DENND4B|DENND4B|transcript|NM_014856.2|protein_coding|7/27|c.1123-5T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3531;p3_1000G_AF=0.705072;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=20049;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.4791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153913770;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2954,1186;ESP6500_AA_GTC=1062,830,178;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22903471;ESP6500_CDS_SIZES=NM_014856.2:4491;ESP6500_CG=2.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=91;ESP6500_EA_AC=3967,4449;ESP6500_EA_GTC=918,2131,1159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014856.2:intron;ESP6500_GL=DENND4B;ESP6500_GRCh38_POSITION=1:153941294;ESP6500_GTC=1980,2961,1337;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22903471;ESP6500_HGVS_CDNA_VAR=NM_014856.2:c.1123-5T>C;ESP6500_MAF=47.1364,28.6473,44.8789;ESP6500_TAC=6921,5635	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1536,144,0
chr1	153982198	rs10908578	T	C	1222.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10908578;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|JTB|JTB|transcript|NM_006694.3|protein_coding||c.-4946A>G|||||4223|,C|intron_variant|MODIFIER|RAB13|RAB13|transcript|NM_002870.3|protein_coding|7/7|c.535-22A>G||||||,C|intron_variant|MODIFIER|RAB13|RAB13|transcript|NM_001272038.1|protein_coding|7/7|c.292-22A>G||||||,C|intron_variant|MODIFIER|RAB13|RAB13|transcript|NR_073553.1|pseudogene|7/7|n.772-22A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3429;p3_1000G_AF=0.684704;p3_1000G_AFR_AF=0.6558;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=19890;p3_1000G_EAS_AF=0.9296;p3_1000G_EUR_AF=0.4891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153954674;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2726,1680;ESP6500_AA_GTC=837,1052,314;ESP6500_CDS_SIZES=NM_002870.2:612;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=128;ESP6500_EA_AC=4017,4583;ESP6500_EA_GTC=904,2209,1187;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002870.2:intron;ESP6500_GL=RAB13;ESP6500_GRCh38_POSITION=1:153982198;ESP6500_GTC=1741,3261,1501;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002870.2:c.535-22A>G;ESP6500_MAF=46.7093,38.1298,48.1547;ESP6500_TAC=6743,6263	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1251,114,0
chr1	153982302	rs56853500;rs71584158	AACAC	A	901.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=0.776;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56853500,rs71584158;dbSNPBuildID=130,129;ANN=A|upstream_gene_variant|MODIFIER|JTB|JTB|transcript|NM_006694.3|protein_coding||c.-5054_-5051delGTGT|||||4328|,A|intron_variant|MODIFIER|RAB13|RAB13|transcript|NM_002870.3|protein_coding|7/7|c.534+85_534+88delGTGT||||||,A|intron_variant|MODIFIER|RAB13|RAB13|transcript|NM_001272038.1|protein_coding|7/7|c.291+85_291+88delGTGT||||||,A|intron_variant|MODIFIER|RAB13|RAB13|transcript|NR_073553.1|pseudogene|7/7|n.771+85_771+88delGTGT||||||;p3_1000G_AC=843;p3_1000G_AF=0.168331;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=23862;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153954778;p3_1000G_GRCH37_REF=AACAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,21:21:69:937,69,0
chr1	153991920	rs34521811;rs397693735	C	CAA	1288.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=0.826;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34521811;dbSNPBuildID=132,138;ANN=CAA|downstream_gene_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_207308.2|protein_coding||c.*914_*915insTT|||||771|,CAA|downstream_gene_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_001159484.1|protein_coding||c.*914_*915insTT|||||771|,CAA|intron_variant|MODIFIER|RPS27|RPS27|transcript|NM_001030.4|protein_coding|3/3|c.227-144_227-143insAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3418;p3_1000G_AF=0.682508;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=22115;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.4891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153964396;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1326,90,0
chr1	154030057	rs369570544	A	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.196;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369570544;dbSNPBuildID=138;ANN=G|splice_region_variant&intron_variant|LOW|NUP210L|NUP210L|transcript|NM_207308.2|protein_coding|27/39|c.3697-3T>C||||||,G|splice_region_variant&intron_variant|LOW|NUP210L|NUP210L|transcript|NM_001159484.1|protein_coding|27/37|c.3697-3T>C||||||;ESP6500_AA=A;ESP6500_AA_AC=1,3713;ESP6500_AA_GTC=0,1,1856;ESP6500_CDS_SIZES=NM_207308.2:5667,NM_001159484.1:5211;ESP6500_CG=1.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=84;ESP6500_EA_AC=0,8186;ESP6500_EA_GTC=0,0,4093;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207308.2:intron,NM_001159484.1:intron;ESP6500_GL=NUP210L;ESP6500_GRCh38_POSITION=1:154030057;ESP6500_GTC=0,1,5949;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207308.2:c.3697-3T>C,NM_001159484.1:c.3697-3T>C;ESP6500_MAF=0.0,0.0269,0.0084;ESP6500_TAC=1,11899	GT:AD:DP:GQ:PL	0/1:13,7:20:99:192,0,389
chr1	154054166	rs34752019	A	G	793.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34752019;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_207308.2|protein_coding|25/39|c.3483+62T>C||||||,G|intron_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_001159484.1|protein_coding|25/37|c.3483+62T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=906;p3_1000G_AF=0.180911;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=19222;p3_1000G_EAS_AF=0.4494;p3_1000G_EUR_AF=0.17;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154026642;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:822,69,0
chr1	154089379	rs2066135	T	G	239.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2066135;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_207308.2|protein_coding|16/39|c.2361+42A>C||||||,G|intron_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_001159484.1|protein_coding|16/37|c.2361+42A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20696;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154061855;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:268,24,0
chr1	154135911	rs3001361	G	A	1534.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.96;SOR=1.077;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3001361;dbSNPBuildID=101;ANN=A|sequence_feature|MODERATE|NUP210L|NUP210L|glycosylation-site:N-linked_(GlcNAc...)|NM_207308.2|protein_coding|7/40|c.912C>T||||||,A|sequence_feature|MODERATE|NUP210L|NUP210L|glycosylation-site:N-linked_(GlcNAc...)|NM_001159484.1|protein_coding|7/38|c.912C>T||||||,A|synonymous_variant|LOW|NUP210L|NUP210L|transcript|NM_207308.2|protein_coding|7/40|c.912C>T|p.Asn304Asn|984/5882|912/5667|304/1888||,A|synonymous_variant|LOW|NUP210L|NUP210L|transcript|NM_001159484.1|protein_coding|7/38|c.912C>T|p.Asn304Asn|984/5426|912/5211|304/1736||;p3_1000G_AA=A|||;p3_1000G_AC=4853;p3_1000G_AF=0.96905;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17559;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154108387;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3447,323;ESP6500_AA_GTC=1573,301,11;ESP6500_CDS_SIZES=NM_207308.2:5667,NM_001159484.1:5211;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=109;ESP6500_EA_AC=8219,3;ESP6500_EA_GTC=4108,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207308.2:coding-synonymous,NM_001159484.1:coding-synonymous;ESP6500_GL=NUP210L;ESP6500_GRCh38_POSITION=1:154135911;ESP6500_GTC=5681,304,11;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207308.2:c.912C>T,NM_001159484.1:c.912C>T;ESP6500_HGVS_PROTEIN_VAR=NM_207308.2:p.(N304),NM_001159484.1:p.(N304);ESP6500_MAF=0.0365,8.5676,2.7185;ESP6500_TAC=11666,326	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1563,159,0
chr1	154138257	rs11318139;rs538177587	GA	G	129.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.769;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.115;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11318139;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_207308.2|protein_coding|5/39|c.718-20delT||||||,G|intron_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_001159484.1|protein_coding|5/37|c.718-20delT||||||;p3_1000G_AC=1799;p3_1000G_AF=0.359225;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=17256;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154110733;p3_1000G_GRCH37_REF=GA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,7:10:54:167,0,54
chr1	154139691	rs2500223	A	C	85.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2500223;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_207308.2|protein_coding|5/39|c.717+111T>G||||||,C|intron_variant|MODIFIER|NUP210L|NUP210L|transcript|NM_001159484.1|protein_coding|5/37|c.717+111T>G||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:113,9,0
chr1	154141449	rs145694019	T	C	819.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.53;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=3.576;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.783;SOR=0.814;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145694019;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|NUP210L|NUP210L|transcript|NM_207308.2|protein_coding|4/40|c.548A>G|p.Glu183Gly|620/5882|548/5667|183/1888||,C|missense_variant|MODERATE|NUP210L|NUP210L|transcript|NM_001159484.1|protein_coding|4/38|c.548A>G|p.Glu183Gly|620/5426|548/5211|183/1736||;p3_1000G_AA=T|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19231;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154113925;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,30:60:99:848,0,732
chr1	154169432	rs4845364;262627	A	G	1252.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845364;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_152263.3|protein_coding|8/9|c.776-49T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278191.1|protein_coding|7/7|c.394+968T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043351.1|protein_coding|7/7|c.664+968T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043352.1|protein_coding|7/7|c.664+968T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043353.1|protein_coding|7/7|c.664+968T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278188.1|protein_coding|6/6|c.466+968T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278189.1|protein_coding|7/8|c.665-49T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278190.1|protein_coding|6/6|c.601+968T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_153649.3|protein_coding|7/7|c.664+968T>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NR_103461.1|pseudogene|7/7|n.790+968T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3667;p3_1000G_AF=0.732228;p3_1000G_AFR_AF=0.8464;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=20518;p3_1000G_EAS_AF=0.8562;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154141908;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3508,898;ESP6500_AA_AGE=339.9+/-306.0;ESP6500_AA_GTC=1390,728,85;ESP6500_CDS_SIZES=NM_153649.3:747,NM_152263.2:858,NM_001043353.1:744,NM_001043352.1:744,NM_001043351.1:747;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=70;ESP6500_EA_AC=4324,4276;ESP6500_EA_AGE=574.1+/-390.0;ESP6500_EA_GTC=1047,2230,1023;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153649.3:intron,NM_152263.2:intron,NM_001043353.1:intron,NM_001043352.1:intron,NM_001043351.1:intron;ESP6500_GL=TPM3;ESP6500_GRCh38_POSITION=1:154169432;ESP6500_GTC=2437,2958,1108;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153649.3:c.664+968T>C,NM_152263.2:c.776-49T>C,NM_001043353.1:c.664+968T>C,NM_001043352.1:c.664+968T>C,NM_001043351.1:c.664+968T>C;ESP6500_MAF=49.7209,20.3813,39.7816;ESP6500_TAC=7832,5174;CLINVAR_ALLELEID=249393;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154169432A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TPM3:7170;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4845364	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1281,111,0
chr1	154172205	rs34335016	A	T	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.207;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.36;SOR=0.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34335016;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_152263.3|protein_coding|5/9|c.566+703T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278191.1|protein_coding|4/7|c.185+703T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043351.1|protein_coding|4/7|c.455+703T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043352.1|protein_coding|4/7|c.456-101T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043353.1|protein_coding|4/7|c.455+703T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278188.1|protein_coding|3/6|c.258-101T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278189.1|protein_coding|4/8|c.456-101T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278190.1|protein_coding|4/6|c.456-101T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_153649.3|protein_coding|4/7|c.456-101T>A||||||,T|intron_variant|MODIFIER|TPM3|TPM3|transcript|NR_103461.1|pseudogene|4/7|n.586-101T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=691;p3_1000G_AF=0.137979;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=20947;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.1431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154144681;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,17:41:99:429,0,671
chr1	154173056	rs28372838;262624	C	G	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-0.169;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28372838;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_152263.3|protein_coding|4/9|c.495+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278191.1|protein_coding|3/7|c.114+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043351.1|protein_coding|3/7|c.384+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043352.1|protein_coding|3/7|c.384+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001043353.1|protein_coding|3/7|c.384+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278188.1|protein_coding|2/6|c.186+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278189.1|protein_coding|3/8|c.384+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_001278190.1|protein_coding|3/6|c.384+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_153649.3|protein_coding|3/7|c.384+28G>C||||||,G|intron_variant|MODIFIER|TPM3|TPM3|transcript|NR_103461.1|pseudogene|3/7|n.514+28G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1012;p3_1000G_AF=0.202077;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=21052;p3_1000G_EAS_AF=0.3323;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154145532;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=960,3446;ESP6500_AA_AGE=363.1+/-316.4;ESP6500_AA_GTC=96,768,1339;ESP6500_CDS_SIZES=NM_153649.3:747,NM_152263.2:858,NM_001043353.1:744,NM_001043352.1:744,NM_001043351.1:747;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=177;ESP6500_EA_AC=947,7653;ESP6500_EA_AGE=207.0+/-248.9;ESP6500_EA_GTC=65,817,3418;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153649.3:intron,NM_152263.2:intron,NM_001043353.1:intron,NM_001043352.1:intron,NM_001043351.1:intron;ESP6500_GL=TPM3;ESP6500_GRCh38_POSITION=1:154173056;ESP6500_GTC=161,1585,4757;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153649.3:c.384+28G>C,NM_152263.2:c.495+28G>C,NM_001043353.1:c.384+28G>C,NM_001043352.1:c.384+28G>C,NM_001043351.1:c.384+28G>C;ESP6500_MAF=11.0116,21.7885,14.6625;ESP6500_TAC=1907,11099;CLINVAR_AF_ESP=0.1466;CLINVAR_AF_EXAC=0.13755;CLINVAR_AF_TGP=0.2021;CLINVAR_ALLELEID=249396;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154173056C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TPM3:7170;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28372838	GT:AD:DP:GQ:PL	0/1:24,15:39:99:402,0,648
chr1	154191050	rs11802893	G	C	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.325;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-1.81;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11802893;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|MIR190B|MIR190B|transcript|NR_030600.1|pseudogene||n.*2615C>G|||||2615|,C|intron_variant|MODIFIER|TPM3|TPM3|transcript|NM_152263.3|protein_coding|2/9|c.243+136C>G||||||,C|intron_variant|MODIFIER|TPM3|TPM3|transcript|NR_103460.1|pseudogene|3/3|n.397+136C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=960;p3_1000G_AF=0.191693;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=22149;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.1431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154163526;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,11:17:99:311,0,206
chr1	154214442	rs12408458	G	C	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-2.213;SOR=1.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12408458;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001098616.2|protein_coding|3/6|c.286+15C>G||||||,C|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297717.1|protein_coding|3/4|c.286+15C>G||||||,C|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297718.1|protein_coding|3/6|c.181+15C>G||||||,C|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297720.1|protein_coding|3/5|c.286+15C>G||||||,C|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_015449.3|protein_coding|2/5|c.184+15C>G||||||,C|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_138740.3|protein_coding|2/4|c.184+15C>G||||||,C|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297721.1|protein_coding|2/4|c.184+15C>G||||||,C|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297723.1|protein_coding|3/5|c.286+15C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1667;p3_1000G_AF=0.332867;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=18552;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154186918;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=392,4014;ESP6500_AA_AGE=196.7+/-221.0;ESP6500_AA_GTC=27,338,1838;ESP6500_CDS_SIZES=NM_138740.2:606,NM_015449.2:660,NM_001098616.1:762;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=126;ESP6500_EA_AC=3178,5422;ESP6500_EA_AGE=483.1+/-371.0;ESP6500_EA_GTC=579,2020,1701;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138740.2:intron,NM_015449.2:intron,NM_001098616.1:intron;ESP6500_GL=C1orf43;ESP6500_GRCh38_POSITION=1:154214442;ESP6500_GTC=606,2358,3539;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_138740.2:c.184+15C>G,NM_015449.2:c.184+15C>G,NM_001098616.1:c.286+15C>G;ESP6500_MAF=36.9535,8.897,27.4489;ESP6500_TAC=3570,9436	GT:AD:DP:GQ:PL	0/1:10,5:15:99:162,0,273
chr1	154219987	rs34176728	G	GT	459.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.04;SOR=1.292;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34176728;dbSNPBuildID=137;ANN=GT|upstream_gene_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding||c.-5137_-5136insT|||||861|,GT|upstream_gene_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding||c.-5137_-5136insT|||||184|,GT|upstream_gene_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding||c.-5137_-5136insT|||||861|,GT|upstream_gene_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding||c.-5137_-5136insT|||||861|,GT|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001098616.2|protein_coding|1/6|c.67-51dupA||||||,GT|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297717.1|protein_coding|1/4|c.67-51dupA||||||,GT|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297718.1|protein_coding|1/6|c.-39-51dupA||||||,GT|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297720.1|protein_coding|1/5|c.67-51dupA||||||,GT|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_015449.3|protein_coding|1/5|c.66+354dupA||||||,GT|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_138740.3|protein_coding|1/4|c.66+354dupA||||||,GT|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297721.1|protein_coding|1/4|c.66+354dupA||||||,GT|intron_variant|MODIFIER|C1orf43|C1orf43|transcript|NM_001297723.1|protein_coding|1/5|c.67-51dupA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3270;p3_1000G_AF=0.652955;p3_1000G_AFR_AF=0.4312;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=19096;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.5577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154192463;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:56:496,56,0
chr1	154235159	rs12023901	G	T	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.934;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.38;ReadPosRankSum=0.263;SOR=0.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12023901;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding|5/26|c.449-37G>T||||||,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding|5/24|c.449-37G>T||||||,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding|5/24|c.428-37G>T||||||,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding|5/26|c.482-37G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=716;p3_1000G_AF=0.142971;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=17650;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.1332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154207635;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=97,4299;ESP6500_AA_GTC=1,95,2102;ESP6500_CDS_SIZES=NM_014847.3:3264,NM_001127320.1:2952;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=16;ESP6500_EA_AC=683,7901;ESP6500_EA_GTC=47,589,3656;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014847.3:intron,NM_001127320.1:intron;ESP6500_GL=UBAP2L;ESP6500_GRCh38_POSITION=1:154235159;ESP6500_GTC=48,684,5758;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_014847.3:c.449-37G>T,NM_001127320.1:c.449-37G>T;ESP6500_MAF=7.9567,2.2066,6.0092;ESP6500_TAC=780,12200	GT:AD:DP:GQ:PL	0/1:10,5:15:79:79,0,240
chr1	154236693	rs3762340	A	T	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.887;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.889;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762340;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding|7/26|c.590+82A>T||||||,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding|7/24|c.590+82A>T||||||,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding|7/24|c.569+82A>T||||||,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding|7/26|c.623+82A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=685;p3_1000G_AF=0.136781;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=16069;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.1441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154209169;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:131,0,176
chr1	154237014	rs2274993	T	C	696.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.478;SOR=0.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274993;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding|7/26|c.591-10T>C||||||,C|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding|7/24|c.591-10T>C||||||,C|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding|7/24|c.570-10T>C||||||,C|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding|7/26|c.624-10T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=728;p3_1000G_AF=0.145367;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=18256;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154209490;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=98,4308;ESP6500_AA_AGE=77.3+/-115.6;ESP6500_AA_GTC=1,96,2106;ESP6500_CDS_SIZES=NM_014847.3:3264,NM_001127320.1:2952;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=993,7607;ESP6500_EA_AGE=206.9+/-248.8;ESP6500_EA_GTC=69,855,3376;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014847.3:intron,NM_001127320.1:intron;ESP6500_GL=UBAP2L;ESP6500_GRCh38_POSITION=1:154237014;ESP6500_GTC=70,951,5482;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014847.3:c.591-10T>C,NM_001127320.1:c.591-10T>C;ESP6500_MAF=11.5465,2.2242,8.3884;ESP6500_TAC=1091,11915	GT:AD:DP:GQ:PL	0/1:23,26:49:99:725,0,565
chr1	154246163	rs3838414;rs4040743	TTCAG	T	175.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.87;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs4040743,rs3838414;dbSNPBuildID=108,107;ANN=T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding|10/26|c.843-37_843-34delGTCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding|10/24|c.843-37_843-34delGTCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding|10/24|c.822-37_822-34delGTCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding|10/26|c.876-37_876-34delGTCA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2459;p3_1000G_AF=0.491014;p3_1000G_AFR_AF=0.32;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=19161;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154218639;p3_1000G_GRCH37_REF=TTCAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=INDEL;ESP6500_AA_AC=1323,2941;ESP6500_AA_GTC=206,911,1015;ESP6500_CDS_SIZES=NM_014847.3:3264,NM_001127320.1:2952;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=47;ESP6500_EA_AC=3514,4736;ESP6500_EA_GTC=726,2062,1337;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014847.3:intron,NM_001127320.1:intron;ESP6500_GL=UBAP2L;ESP6500_GRCh38_POSITION=1:154246163;ESP6500_GTC=932,2973,2352;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014847.3:c.843-40_843-37del4,NM_001127320.1:c.843-40_843-37del4;ESP6500_MAF=42.5939,31.0272,38.6527;ESP6500_TAC=4837,7677	GT:AD:DP:GQ:PL	0/1:10,6:16:99:213,0,594
chr1	154254763	rs1194604	C	A	44.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1194604;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding|15/26|c.1855-73C>A||||||,A|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding|15/24|c.1855-73C>A||||||,A|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding|15/24|c.1834-73C>A||||||,A|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding|15/26|c.1888-73C>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:72,6,0
chr1	154254816	rs11412846	G	GT	271.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.247;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-1.324;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11412846;dbSNPBuildID=135;ANN=GT|splice_region_variant&intron_variant|LOW|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding|15/26|c.1855-6dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding|15/24|c.1855-6dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding|15/24|c.1834-6dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding|15/26|c.1888-6dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,14:18:29:309,0,29
chr1	154255811	rs1194603	T	C	1387.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1194603;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding|18/26|c.2157+56T>C||||||,C|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding|18/24|c.2157+56T>C||||||,C|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding|18/24|c.2136+56T>C||||||,C|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding|18/26|c.2190+56T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3875;p3_1000G_AF=0.773762;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=20734;p3_1000G_EAS_AF=0.9534;p3_1000G_EUR_AF=0.5656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154228287;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1067,317;ESP6500_AA_GTC=404,259,29;ESP6500_CDS_SIZES=NM_014847.3:3264,NM_001127320.1:2952;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=118;ESP6500_EA_AC=1701,1481;ESP6500_EA_GTC=439,823,329;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014847.3:intron,NM_001127320.1:intron;ESP6500_GL=UBAP2L;ESP6500_GRCh38_POSITION=1:154255811;ESP6500_GTC=843,1082,358;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014847.3:c.2157+56T>C,NM_001127320.1:c.2157+56T>C;ESP6500_MAF=46.5431,22.9046,39.378;ESP6500_TAC=2768,1798	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1416,137,0
chr1	154260134	rs3828077	A	G	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.94;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=0.912;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828077;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding|22/26|c.2578+105A>G||||||,G|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001127320.2|protein_coding|22/24|c.2578+105A>G||||||,G|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287815.1|protein_coding|22/24|c.2557+105A>G||||||,G|intron_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding|22/26|c.2611+105A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=727;p3_1000G_AF=0.145168;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=22092;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154232610;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,3:18:68:68,0,467
chr1	154272666	rs11265425;rs373592376;292700	T	G	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.5;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=6.905;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=0.944;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11265425;dbSNPBuildID=120;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|HAX1|HAX1|transcript|NM_006118.3|protein_coding|1/7|c.-58T>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|HAX1|HAX1|transcript|NM_001018837.1|protein_coding|1/7|c.-58T>G||||||,G|5_prime_UTR_variant|MODIFIER|HAX1|HAX1|transcript|NM_006118.3|protein_coding|1/7|c.-58T>G|||||58|,G|5_prime_UTR_variant|MODIFIER|HAX1|HAX1|transcript|NM_001018837.1|protein_coding|1/7|c.-58T>G|||||58|,G|downstream_gene_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_014847.3|protein_coding||c.*2371T>G|||||1813|,G|downstream_gene_variant|MODIFIER|UBAP2L|UBAP2L|transcript|NM_001287816.1|protein_coding||c.*1747T>G|||||1156|;p3_1000G_AC=1040;p3_1000G_AF=0.207668;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=15781;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154245142;p3_1000G_GRCH37_REF=TC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP,INDEL;ESP6500_AA=T;ESP6500_AA_AC=78,1306;ESP6500_AA_GTC=1,76,615;ESP6500_CDS_SIZES=NM_006118.3:840,NM_001018837.1:696;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=23;ESP6500_EA_AC=893,2289;ESP6500_EA_GTC=122,649,820;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006118.3:utr-5,NM_001018837.1:utr-5;ESP6500_GL=HAX1;ESP6500_GRCh38_POSITION=1:154272666;ESP6500_GTC=123,725,1435;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_006118.3:c.-58T>G,NM_001018837.1:c.-58T>G;ESP6500_MAF=28.0641,5.6358,21.2659;ESP6500_TAC=971,3595;CLINVAR_AF_ESP=0.2127;CLINVAR_AF_TGP=0.2099;CLINVAR_ALLELEID=277283;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0005549,MedGen:C1853118,Orphanet:ORPHA42738;CLINVAR_CLNDN=Severe_congenital_neutropenia;CLINVAR_CLNHGVS=NC_000001.11:g.154272666T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2361;CLINVAR_GENEINFO=HAX1:10456;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11265425	GT:AD:DP:GQ:PL	0/1:26,16:42:99:377,0,718
chr1	154312576	rs11265530	G	A	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.502;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.008;MLEAC=1;MLEAF=0.5;MQ=58.99;MQRankSum=-2.162;QD=9.79;ReadPosRankSum=0.15;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11265530;dbSNPBuildID=120;ANN=A|intergenic_region|MODIFIER|HAX1-AQP10|HAX1-AQP10|intergenic_region|HAX1-AQP10|||n.154312576G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1609;p3_1000G_AF=0.321286;p3_1000G_AFR_AF=0.3941;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=15654;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.2833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154285052;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,10:25:99:273,0,427
chr1	154312602	rs11581043	T	G	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.537;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=13.919;MLEAC=1;MLEAF=0.5;MQ=58.3;MQRankSum=-1.769;QD=8.18;ReadPosRankSum=-0.135;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11581043;dbSNPBuildID=120;ANN=G|intergenic_region|MODIFIER|HAX1-AQP10|HAX1-AQP10|intergenic_region|HAX1-AQP10|||n.154312602T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2332;p3_1000G_AF=0.465655;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=16784;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154285078;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:151,0,238
chr1	154321199	rs6668968	G	A	541.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.912;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.6;MQRankSum=0;QD=10.84;ReadPosRankSum=0.583;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6668968;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|AQP10|AQP10|transcript|NM_080429.2|protein_coding|1/6|c.44G>A|p.Arg15Gln|84/1791|44/906|15/301||,A|upstream_gene_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding||c.-6943G>A|||||4361|;p3_1000G_AA=G|||;p3_1000G_AC=1368;p3_1000G_AF=0.273163;p3_1000G_AFR_AF=0.2685;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=19235;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154293675;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1164,3242;ESP6500_AA_AGE=413.3+/-336.4;ESP6500_AA_GTC=159,846,1198;ESP6500_CDS_SIZES=NM_080429.2:906;ESP6500_CG=-1.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=56;ESP6500_EA_AC=2539,6061;ESP6500_EA_AGE=414.0+/-351.3;ESP6500_EA_GTC=393,1753,2154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080429.2:missense;ESP6500_GL=AQP10;ESP6500_GRCh38_POSITION=1:154321199;ESP6500_GS=43;ESP6500_GTC=552,2599,3352;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080429.2:c.44G>A;ESP6500_HGVS_PROTEIN_VAR=NM_080429.2:p.(R15Q);ESP6500_MAF=29.5233,26.4185,28.4715;ESP6500_PH=benign:0.002;ESP6500_TAC=3703,9303	GT:AD:DP:GQ:PL	0/1:26,24:50:99:570,0,656
chr1	154322180	rs1194607	T	C	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.99;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.013;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.232;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1194607;dbSNPBuildID=87;ANN=C|upstream_gene_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding||c.-5962T>C|||||3380|,C|intron_variant|MODIFIER|AQP10|AQP10|transcript|NM_080429.2|protein_coding|2/5|c.232+121T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2892;p3_1000G_AF=0.577476;p3_1000G_AFR_AF=0.8782;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19843;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.5487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154294656;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,17:37:99:542,0,647
chr1	154323116	rs6685323	C	T	638.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.324;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=6.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0;SOR=1.423;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6685323;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|AQP10|AQP10|transcript|NM_080429.2|protein_coding|3/6|c.367C>T|p.His123Tyr|407/1791|367/906|123/301||,T|sequence_feature|LOW|AQP10|AQP10|topological-domain:Extracellular|NM_080429.2|protein_coding|3/6|c.367C>T||||||,T|upstream_gene_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding||c.-4684C>T|||||4684|,T|upstream_gene_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding||c.-5026C>T|||||2444|;p3_1000G_AA=T|||;p3_1000G_AC=1469;p3_1000G_AF=0.293331;p3_1000G_AFR_AF=0.3434;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=20053;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154295592;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1358,3048;ESP6500_AA_AGE=689.4+/-405.1;ESP6500_AA_GTC=210,938,1055;ESP6500_CDS_SIZES=NM_080429.2:906;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=123;ESP6500_EA_AC=2542,6058;ESP6500_EA_AGE=692.3+/-404.6;ESP6500_EA_GTC=396,1750,2154;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080429.2:missense;ESP6500_GL=AQP10;ESP6500_GRCh38_POSITION=1:154323116;ESP6500_GS=83;ESP6500_GTC=606,2688,3209;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080429.2:c.367C>T;ESP6500_HGVS_PROTEIN_VAR=NM_080429.2:p.(H123Y);ESP6500_MAF=29.5581,30.8216,29.9862;ESP6500_PH=benign:0.0;ESP6500_TAC=3900,9106	GT:AD:DP:GQ:PL	0/1:41,26:67:99:667,0,1122
chr1	154331229	rs12727865	C	T	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.718;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.21;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12727865;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|5/27|c.402+83C>T||||||,T|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding|5/11|c.303+83C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1459;p3_1000G_AF=0.291334;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=16522;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154303705;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:107,0,194
chr1	154331500	rs6702754	T	C	619.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.701;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.157;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.493;SOR=0.502;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6702754;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|6/28|c.459T>C|p.Asn153Asn|459/5858|459/3672|153/1223||,C|synonymous_variant|LOW|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding|6/12|c.360T>C|p.Asn120Asn|540/1516|360/1164|120/387||;p3_1000G_AA=T|||;p3_1000G_AC=1459;p3_1000G_AF=0.291334;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=18588;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154303976;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1361,3045;ESP6500_AA_AGE=454.5+/-350.7;ESP6500_AA_GTC=210,941,1052;ESP6500_CDS_SIZES=NM_020452.3:3672,NM_001005855.1:1164;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=92;ESP6500_EA_AC=2539,6061;ESP6500_EA_AGE=414.5+/-351.5;ESP6500_EA_GTC=396,1747,2157;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020452.3:coding-synonymous,NM_001005855.1:coding-synonymous;ESP6500_GL=ATP8B2;ESP6500_GRCh38_POSITION=1:154331500;ESP6500_GTC=606,2688,3209;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020452.3:c.459T>C,NM_001005855.1:c.360T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020452.3:p.(N153),NM_001005855.1:p.(N120);ESP6500_MAF=29.5233,30.8897,29.9862;ESP6500_TAC=3900,9106	GT:AD:DP:GQ:PL	0/1:19,25:44:99:648,0,442
chr1	154332534	rs1209264	A	G	490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.02;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1209264;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|8/27|c.609-84A>G||||||,G|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding|8/11|c.510-84A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4479;p3_1000G_AF=0.894369;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=16797;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154305010;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:519,42,0
chr1	154332714	rs12077870	G	C	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.734;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.687;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.033;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12077870;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|9/27|c.688+17G>C||||||,C|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding|9/11|c.589+17G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1459;p3_1000G_AF=0.291334;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=17546;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154305190;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1346,3054;ESP6500_AA_GTC=215,916,1069;ESP6500_CDS_SIZES=NM_020452.3:3672,NM_001005855.1:1164;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=62;ESP6500_EA_AC=2494,6092;ESP6500_EA_GTC=392,1710,2191;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020452.3:intron,NM_001005855.1:intron;ESP6500_GL=ATP8B2;ESP6500_GRCh38_POSITION=1:154332714;ESP6500_GTC=607,2626,3260;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020452.3:c.688+17G>C,NM_001005855.1:c.589+17G>C;ESP6500_MAF=29.0473,30.5909,29.5703;ESP6500_TAC=3840,9146	GT:AD:DP:GQ:PL	0/1:11,15:26:99:422,0,355
chr1	154337572	rs1760795	C	G	958.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-1.128;SOR=0.938;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1760795;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding|12/12|c.1062C>G|p.Leu354Leu|1242/1516|1062/1164|354/387||,G|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|12/27|c.1133+28C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2153;p3_1000G_AF=0.429912;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=20687;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154310048;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=933,3473;ESP6500_AA_AGE=355.1+/-312.9;ESP6500_AA_GTC=92,749,1362;ESP6500_CDS_SIZES=NM_020452.3:3672,NM_001005855.1:1164;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=206;ESP6500_EA_AC=4062,4538;ESP6500_EA_AGE=559.7+/-387.5;ESP6500_EA_GTC=963,2136,1201;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020452.3:intron,NM_001005855.1:coding-synonymous;ESP6500_GL=ATP8B2;ESP6500_GRCh38_POSITION=1:154337572;ESP6500_GTC=1055,2885,2563;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020452.3:c.1133+28C>G,NM_001005855.1:c.1062C>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001005855.1:p.(L354);ESP6500_MAF=47.2326,21.1757,38.4054;ESP6500_TAC=4995,8011	GT:AD:DP:GQ:PL	0/1:31,33:64:99:987,0,770
chr1	154337747	rs11448687;rs397702073	G	GA	38.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.844;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=1.62;SOR=2.215;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11448687;dbSNPBuildID=135,138;ANN=GA|3_prime_UTR_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_001005855.1|protein_coding|12/12|c.*82dupA|||||83|INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|12/27|c.1133+212dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=19480;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.2942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154310223;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,4:13:76:76,0,220
chr1	154344677	rs1194587	C	T	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.713;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=4.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-1.019;SOR=0.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1194587;dbSNPBuildID=87;ANN=T|synonymous_variant|LOW|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|21/28|c.2277C>T|p.Ser759Ser|2277/5858|2277/3672|759/1223||;p3_1000G_AA=C|||;p3_1000G_AC=2103;p3_1000G_AF=0.419928;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=19944;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154317153;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=789,3617;ESP6500_AA_AGE=317.7+/-295.3;ESP6500_AA_GTC=68,653,1482;ESP6500_CDS_SIZES=NM_020452.3:3672;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=128;ESP6500_EA_AC=4064,4536;ESP6500_EA_AGE=559.9+/-387.5;ESP6500_EA_GTC=964,2136,1200;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020452.3:coding-synonymous;ESP6500_GL=ATP8B2;ESP6500_GRCh38_POSITION=1:154344677;ESP6500_GTC=1032,2789,2682;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020452.3:c.2277C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020452.3:p.(S759);ESP6500_MAF=47.2558,17.9074,37.3135;ESP6500_TAC=4853,8153	GT:AD:DP:GQ:PL	0/1:31,22:53:99:509,0,799
chr1	154344805	rs9660850	G	A	365.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.227;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.574;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9660850;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|21/27|c.2385+20G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=691;p3_1000G_AF=0.137979;p3_1000G_AFR_AF=0.0976;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=21312;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154317281;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=507,3899;ESP6500_AA_AGE=234.9+/-247.6;ESP6500_AA_GTC=27,453,1723;ESP6500_CDS_SIZES=NM_020452.3:3672;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=90;ESP6500_EA_AC=1285,7315;ESP6500_EA_AGE=253.9+/-279.4;ESP6500_EA_GTC=98,1089,3113;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020452.3:intron;ESP6500_GL=ATP8B2;ESP6500_GRCh38_POSITION=1:154344805;ESP6500_GTC=125,1542,4836;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020452.3:c.2385+20G>A;ESP6500_MAF=14.9419,11.507,13.7783;ESP6500_TAC=1792,11214	GT:AD:DP:GQ:PL	0/1:14,14:28:99:394,0,440
chr1	154344942	rs1194586	T	C	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.03;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1194586;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|21/27|c.2386-29T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2106;p3_1000G_AF=0.420527;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18966;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154317418;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=787,3619;ESP6500_AA_AGE=297.8+/-285.0;ESP6500_AA_GTC=67,653,1483;ESP6500_CDS_SIZES=NM_020452.3:3672;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=43;ESP6500_EA_AC=4058,4542;ESP6500_EA_AGE=536.4+/-383.0;ESP6500_EA_GTC=963,2132,1205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020452.3:intron;ESP6500_GL=ATP8B2;ESP6500_GRCh38_POSITION=1:154344942;ESP6500_GTC=1030,2785,2688;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020452.3:c.2386-29T>C;ESP6500_MAF=47.186,17.862,37.252;ESP6500_TAC=4845,8161	GT:AD:DP:GQ:PL	0/1:10,9:19:99:270,0,302
chr1	154345696	rs1979575	A	G	418.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.624;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.94;SOR=0.393;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1979575;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|23/27|c.2794-104A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=696;p3_1000G_AF=0.138978;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=19042;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154318172;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,16:33:99:447,0,494
chr1	154348596	rs1194591	A	G	1188.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=3.545;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1194591;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|ATP8B2|ATP8B2|transcript|NM_020452.3|protein_coding|27/27|c.3393+58A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4708;p3_1000G_AF=0.940096;p3_1000G_AFR_AF=0.7882;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=19129;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154321072;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1217,96,0
chr1	154450104	rs1287216903	CTG	C	76.14	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.21;SOR=2.303;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|IL6R|IL6R|transcript|NM_000565.3|protein_coding|8/9|c.1066+162_1066+163delGT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|IL6R|IL6R|transcript|NM_181359.2|protein_coding|8/8|c.1066+162_1066+163delGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,5:6:10:113,0,10
chr1	154465420	rs2229238	T	C	680.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.695;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229238;dbSNPBuildID=98;ANN=C|3_prime_UTR_variant|MODIFIER|IL6R|IL6R|transcript|NM_000565.3|protein_coding|10/10|c.*40T>C|||||40|,C|3_prime_UTR_variant|MODIFIER|IL6R|IL6R|transcript|NM_181359.2|protein_coding|9/9|c.*255T>C|||||255|;p3_1000G_AA=C|||;p3_1000G_AC=3991;p3_1000G_AF=0.796925;p3_1000G_AFR_AF=0.7731;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=20160;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.7803;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154437896;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3467,939;ESP6500_AA_GTC=1364,739,100;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22319020;ESP6500_CDS_SIZES=NM_181359.2:1098,NM_000565.3:1407;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=33;ESP6500_EA_AC=6978,1616;ESP6500_EA_GTC=2839,1300,158;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181359.2:utr-3,NM_000565.3:utr-3;ESP6500_GL=IL6R;ESP6500_GRCh38_POSITION=1:154465420;ESP6500_GTC=4203,2039,258;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22319020;ESP6500_HGVS_CDNA_VAR=NM_181359.2:c.*255T>C,NM_000565.3:c.*40T>C;ESP6500_MAF=18.8038,21.3118,19.6538;ESP6500_TAC=10445,2555	GT:AD:DP:GQ:PL	0/1:23,24:47:99:709,0,590
chr1	154470484	rs11265621	G	A	1153.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=3.193;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11265621;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|IL6R|IL6R|transcript|NM_000565.3|protein_coding||c.*5104G>A|||||1034|,A|downstream_gene_variant|MODIFIER|IL6R|IL6R|transcript|NM_181359.2|protein_coding||c.*5319G>A|||||1034|,A|intergenic_region|MODIFIER|IL6R-SHE|IL6R-SHE|intergenic_region|IL6R-SHE|||n.154470484G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=20408;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154442960;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1182,99,0
chr1	154486456	rs4845632	A	G	651.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845632;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|SHE|SHE|transcript|NM_001010846.2|protein_coding|4/5|c.1181+71T>C||||||,G|intron_variant|MODIFIER|SHE|SHE|transcript|NR_135169.1|pseudogene|4/5|n.1200+71T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4513;p3_1000G_AF=0.901158;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=20469;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154458932;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:680,51,0
chr1	154486721	rs4845633	C	G	722.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845633;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|SHE|SHE|transcript|NM_001010846.2|protein_coding|3/5|c.1025-38G>C||||||,G|intron_variant|MODIFIER|SHE|SHE|transcript|NR_135169.1|pseudogene|3/5|n.1049-43G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4813;p3_1000G_AF=0.961062;p3_1000G_AFR_AF=0.8563;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18469;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154459197;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3874,532;ESP6500_AA_AGE=239.9+/-250.9;ESP6500_AA_GTC=1700,474,29;ESP6500_CDS_SIZES=NM_001010846.2:1488;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=37;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010846.2:intron;ESP6500_GL=SHE;ESP6500_GRCh38_POSITION=1:154486721;ESP6500_GTC=5998,476,29;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001010846.2:c.1025-38G>C;ESP6500_MAF=0.0233,12.0744,4.1058;ESP6500_TAC=12472,534	GT:AD:DP:GQ:PL	1/1:0,21:21:63:751,63,0
chr1	154489029	rs549789380	G	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.802;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.23;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|SHE|SHE|transcript|NM_001010846.2|protein_coding|3/5|c.1024+22C>T||||||,A|intron_variant|MODIFIER|SHE|SHE|transcript|NR_135169.1|pseudogene|3/5|n.1048+22C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16219;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154461505;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:240,0,272
chr1	154501655	rs4845635	C	G	1646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845635;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|SHE|SHE|transcript|NM_001010846.2|protein_coding|1/6|c.372G>C|p.Arg124Arg|396/6183|372/1488|124/495||,G|upstream_gene_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_001098475.1|protein_coding||c.-5249C>G|||||564|,G|upstream_gene_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_182499.3|protein_coding||c.-5249C>G|||||564|,G|non_coding_transcript_exon_variant|MODIFIER|SHE|SHE|transcript|NR_135169.1|pseudogene|1/6|n.396G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=3891;p3_1000G_AF=0.776957;p3_1000G_AFR_AF=0.5635;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=13162;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.8241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154474131;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP;ESP6500_AA_AC=2736,1668;ESP6500_AA_AGE=637.7+/-396.8;ESP6500_AA_GTC=845,1046,311;ESP6500_CDS_SIZES=NM_001010846.2:1488;ESP6500_CG=3.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=39;ESP6500_EA_AC=7153,1447;ESP6500_EA_AGE=738.8+/-407.1;ESP6500_EA_GTC=2990,1173,137;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010846.2:coding-synonymous;ESP6500_GL=SHE;ESP6500_GRCh38_POSITION=1:154501655;ESP6500_GTC=3835,2219,448;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001010846.2:c.372G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001010846.2:p.(R124);ESP6500_MAF=16.8256,37.8747,23.9542;ESP6500_TAC=9889,3115	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1675,156,0
chr1	154507181	rs10654618	C	CAT	727.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=0.804;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10654618;dbSNPBuildID=126;ANN=CAT|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_001098475.1|protein_coding|2/11|c.3-60_3-59insAT||||||,CAT|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_182499.3|protein_coding|2/12|c.3-60_3-59insAT||||||;p3_1000G_AC=4518;p3_1000G_AF=0.902157;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=21276;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154479657;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=2975,1157;ESP6500_AA_GTC=1107,761,198;ESP6500_CDS_SIZES=NM_182499.3:1056,NM_001098475.1:1101;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=84;ESP6500_EA_AC=8052,8;ESP6500_EA_GTC=4022,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182499.3:intron,NM_001098475.1:intron;ESP6500_GL=TDRD10;ESP6500_GRCh38_POSITION=1:154507181;ESP6500_GTC=5129,769,198;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_182499.3:c.3-60_3-59insAT,NM_001098475.1:c.3-60_3-59insAT;ESP6500_MAF=0.0993,28.001,9.5554;ESP6500_TAC=11027,1165	GT:AD:DP:GQ:PL	1/1:0,17:17:51:765,51,0
chr1	154507194	rs6664608	C	T	645.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6664608;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_001098475.1|protein_coding|2/11|c.3-47C>T||||||,T|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_182499.3|protein_coding|2/12|c.3-47C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=20756;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154479670;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=804,3484;ESP6500_AA_GTC=86,632,1426;ESP6500_CDS_SIZES=NM_182499.3:1056,NM_001098475.1:1101;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=5237,3183;ESP6500_EA_GTC=1668,1901,641;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182499.3:intron,NM_001098475.1:intron;ESP6500_GL=TDRD10;ESP6500_GRCh38_POSITION=1:154507194;ESP6500_GTC=1754,2533,2067;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182499.3:c.3-47C>T,NM_001098475.1:c.3-47C>T;ESP6500_MAF=37.8029,18.75,47.537;ESP6500_TAC=6041,6667	GT:AD:DP:GQ:PL	1/1:0,19:19:57:674,57,0
chr1	154520226	rs10908842	G	A	565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=5.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10908842;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_001098475.1|protein_coding|4/11|c.142-78G>A||||||,A|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_182499.3|protein_coding|4/12|c.142-78G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2552;p3_1000G_AF=0.509585;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=20630;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.5944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154492702;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:594,51,0
chr1	154521245	rs6684225	T	C	281.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6684225;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_001098475.1|protein_coding|5/11|c.213-78T>C||||||,C|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_182499.3|protein_coding|5/12|c.213-78T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=4511;p3_1000G_AF=0.900759;p3_1000G_AFR_AF=0.6377;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=18139;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154493721;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:310,27,0
chr1	154541855	rs4845647	C	A	273.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845647;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_001098475.1|protein_coding|6/11|c.370-169C>A||||||,A|intron_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_182499.3|protein_coding|6/12|c.370-169C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2988;p3_1000G_AF=0.596645;p3_1000G_AFR_AF=0.4312;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=19411;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.5984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154514331;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:302,27,0
chr1	154544095	rs6678164	T	C	1544.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.35;SOR=0.883;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6678164;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|TDRD10|TDRD10|transcript|NM_001098475.1|protein_coding|9/12|c.636T>C|p.Ala212Ala|1474/2529|636/1101|212/366||,C|synonymous_variant|LOW|TDRD10|TDRD10|transcript|NM_182499.3|protein_coding|9/13|c.636T>C|p.Ala212Ala|1474/2331|636/1056|212/351||,C|downstream_gene_variant|MODIFIER|UBE2Q1|UBE2Q1|transcript|NM_017582.6|protein_coding||c.*6343A>G|||||4480|;p3_1000G_AA=C|||;p3_1000G_AC=4509;p3_1000G_AF=0.900359;p3_1000G_AFR_AF=0.6362;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=19201;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154516571;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3175,1231;ESP6500_AA_AGE=428.5+/-341.9;ESP6500_AA_GTC=1143,889,171;ESP6500_CDS_SIZES=NM_182499.3:1056,NM_001098475.1:1101;ESP6500_CG=3.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=111;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4293,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182499.3:coding-synonymous,NM_001098475.1:coding-synonymous;ESP6500_GL=TDRD10;ESP6500_GRCh38_POSITION=1:154544095;ESP6500_GTC=5436,896,171;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_182499.3:c.636T>C,NM_001098475.1:c.636T>C;ESP6500_HGVS_PROTEIN_VAR=NM_182499.3:p.(A212),NM_001098475.1:p.(A212);ESP6500_MAF=0.0814,27.9392,9.5187;ESP6500_TAC=11768,1238	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1573,132,0
chr1	154551112	rs10908849	T	G	699.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.16;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10908849;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|UBE2Q1-AS1|UBE2Q1-AS1|transcript|NR_046668.1|pseudogene||n.-2497T>G|||||2497|,G|downstream_gene_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_001098475.1|protein_coding||c.*3555T>G|||||2965|,G|downstream_gene_variant|MODIFIER|TDRD10|TDRD10|transcript|NM_182499.3|protein_coding||c.*3402T>G|||||2965|,G|intron_variant|MODIFIER|UBE2Q1|UBE2Q1|transcript|NM_017582.6|protein_coding|11/12|c.1171-108A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4267;p3_1000G_AF=0.852037;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=19363;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154523588;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:728,54,0
chr1	154555610	rs4078519	T	C	943.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=1.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4078519;dbSNPBuildID=108;ANN=C|downstream_gene_variant|MODIFIER|UBE2Q1-AS1|UBE2Q1-AS1|transcript|NR_046668.1|pseudogene||n.*582T>C|||||582|,C|intron_variant|MODIFIER|UBE2Q1|UBE2Q1|transcript|NM_017582.6|protein_coding|2/12|c.433-78A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4259;p3_1000G_AF=0.850439;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=18450;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154528086;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:972,87,0
chr1	154585209	rs9427094;257475	C	T	814.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.004;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-2.086;SOR=0.699;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9427094;dbSNPBuildID=119;ANN=T|splice_region_variant&intron_variant|LOW|ADAR|ADAR|transcript|NM_001111.4|protein_coding|14/14|c.3443+8G>A||||||,T|splice_region_variant&intron_variant|LOW|ADAR|ADAR|transcript|NM_001193495.1|protein_coding|14/14|c.2558+8G>A||||||,T|splice_region_variant&intron_variant|LOW|ADAR|ADAR|transcript|NM_015840.3|protein_coding|14/14|c.3365+8G>A||||||,T|splice_region_variant&intron_variant|LOW|ADAR|ADAR|transcript|NM_015841.3|protein_coding|14/14|c.3308+8G>A||||||,T|splice_region_variant&intron_variant|LOW|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|14/14|c.2558+8G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1947;p3_1000G_AF=0.388778;p3_1000G_AFR_AF=0.1997;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=17730;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.4712;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154557685;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1110,3296;ESP6500_AA_AGE=398.3+/-330.8;ESP6500_AA_GTC=141,828,1234;ESP6500_CDS_SIZES=NM_015841.3:3546,NM_015840.3:3603,NM_001193495.1:2796,NM_001111.4:3681,NM_001025107.2:2796;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=146;ESP6500_EA_AC=4134,4466;ESP6500_EA_AGE=564.6+/-388.3;ESP6500_EA_GTC=981,2172,1147;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015841.3:intron,NM_015840.3:intron,NM_001193495.1:intron,NM_001111.4:intron,NM_001025107.2:intron;ESP6500_GL=ADAR;ESP6500_GRCh38_POSITION=1:154585209;ESP6500_GTC=1122,3000,2381;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015841.3:c.3308+8G>A,NM_015840.3:c.3365+8G>A,NM_001193495.1:c.2558+8G>A,NM_001111.4:c.3443+8G>A,NM_001025107.2:c.2558+8G>A;ESP6500_MAF=48.0698,25.1929,40.3199;ESP6500_TAC=5244,7762;CLINVAR_AF_ESP=0.4032;CLINVAR_AF_EXAC=0.46300;CLINVAR_AF_TGP=0.3888;CLINVAR_ALLELEID=249407;CLINVAR_CLNDISDB=MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED_CT:239085000|MedGen:CN169374;CLINVAR_CLNDN=Symmetrical_dyschromatosis_of_extremities|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154585209C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2440;CLINVAR_GENEINFO=ADAR:103;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9427094	GT:AD:DP:GQ:PL	0/1:57,35:92:99:843,0,1509
chr1	154588785	rs9427095	G	C	273.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9427095;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001111.4|protein_coding|9/14|c.2763-112C>G||||||,C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001193495.1|protein_coding|9/14|c.1878-112C>G||||||,C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_015840.3|protein_coding|9/14|c.2685-112C>G||||||,C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_015841.3|protein_coding|9/14|c.2628-112C>G||||||,C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|9/14|c.1878-112C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4564;p3_1000G_AF=0.911342;p3_1000G_AFR_AF=0.68;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=20356;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154561261;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:302,27,0
chr1	154589449	rs1127309;257474	C	T	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.73;ReadPosRankSum=-0.418;SOR=0.814;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1127309;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|ADAR|ADAR|transcript|NM_001111.4|protein_coding|9/15|c.2682G>A|p.Val894Val|2924/6671|2682/3681|894/1226||,T|synonymous_variant|LOW|ADAR|ADAR|transcript|NM_001193495.1|protein_coding|9/15|c.1797G>A|p.Val599Val|2962/6709|1797/2796|599/931||,T|synonymous_variant|LOW|ADAR|ADAR|transcript|NM_015840.3|protein_coding|9/15|c.2604G>A|p.Val868Val|2846/6593|2604/3603|868/1200||,T|synonymous_variant|LOW|ADAR|ADAR|transcript|NM_015841.3|protein_coding|9/15|c.2547G>A|p.Val849Val|2789/6536|2547/3546|849/1181||,T|synonymous_variant|LOW|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|9/15|c.1797G>A|p.Val599Val|2793/6540|1797/2796|599/931||;p3_1000G_AA=C|||;p3_1000G_AC=1407;p3_1000G_AF=0.28095;p3_1000G_AFR_AF=0.2927;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=21281;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.3221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154561925;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1357,3049;ESP6500_AA_AGE=451.0+/-349.5;ESP6500_AA_GTC=205,947,1051;ESP6500_CDS_SIZES=NM_015841.3:3546,NM_015840.3:3603,NM_001193495.1:2796,NM_001111.4:3681,NM_001025107.2:2796;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=84;ESP6500_EA_AC=2519,6081;ESP6500_EA_AGE=413.4+/-351.1;ESP6500_EA_GTC=391,1737,2172;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015841.3:coding-synonymous,NM_015840.3:coding-synonymous,NM_001193495.1:coding-synonymous,NM_001111.4:coding-synonymous,NM_001025107.2:coding-synonymous;ESP6500_GL=ADAR;ESP6500_GRCh38_POSITION=1:154589449;ESP6500_GTC=596,2684,3223;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015841.3:c.2547G>A,NM_015840.3:c.2604G>A,NM_001193495.1:c.1797G>A,NM_001111.4:c.2682G>A,NM_001025107.2:c.1797G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015841.3:p.(V849),NM_015840.3:p.(V868),NM_001193495.1:p.(V599),NM_001111.4:p.(V894),NM_001025107.2:p.(V599);ESP6500_MAF=29.2907,30.7989,29.8016;ESP6500_TAC=3876,9130;CLINVAR_AF_ESP=0.2980;CLINVAR_AF_EXAC=0.27447;CLINVAR_AF_TGP=0.2810;CLINVAR_ALLELEID=249408;CLINVAR_CLNDISDB=MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED_CT:239085000|MedGen:CN169374;CLINVAR_CLNDN=Symmetrical_dyschromatosis_of_extremities|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154589449C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2456;CLINVAR_GENEINFO=ADAR:103;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1127309	GT:AD:DP:GQ:PL	0/1:20,7:27:99:156,0,518
chr1	154590149	rs7532276	G	C	92.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7532276;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001111.4|protein_coding|7/14|c.2496+35C>G||||||,C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001193495.1|protein_coding|7/14|c.1611+35C>G||||||,C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_015840.3|protein_coding|7/14|c.2418+113C>G||||||,C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_015841.3|protein_coding|7/14|c.2361+113C>G||||||,C|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|7/14|c.1611+35C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2309;p3_1000G_AF=0.461062;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=14401;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.4573;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154562625;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:9:1|1:154590149_G_C:120,9,0
chr1	154590153	rs60407842;rs71077958	C	A	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=0.674;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60407842;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001111.4|protein_coding|7/14|c.2496+31G>T||||||,A|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001193495.1|protein_coding|7/14|c.1611+31G>T||||||,A|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_015840.3|protein_coding|7/14|c.2418+109G>T||||||,A|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_015841.3|protein_coding|7/14|c.2361+109G>T||||||,A|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|7/14|c.1611+31G>T||||||;p3_1000G_AC=445;p3_1000G_AF=0.0888578;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=16763;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.0825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154562629;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,2:4:62:0|1:154590149_G_C:62,0,63
chr1	154601491	rs2229857;195112	T	C	1320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.17;ClippingRankSum=0;DP=114;ExcessHet=3.0103;FS=2.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.815;SOR=0.97;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229857;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|ADAR|ADAR|transcript|NM_001111.4|protein_coding|2/15|c.1151A>G|p.Lys384Arg|1393/6671|1151/3681|384/1226||,C|missense_variant|MODERATE|ADAR|ADAR|transcript|NM_001193495.1|protein_coding|2/15|c.266A>G|p.Lys89Arg|1431/6709|266/2796|89/931||,C|missense_variant|MODERATE|ADAR|ADAR|transcript|NM_015840.3|protein_coding|2/15|c.1151A>G|p.Lys384Arg|1393/6593|1151/3603|384/1200||,C|missense_variant|MODERATE|ADAR|ADAR|transcript|NM_015841.3|protein_coding|2/15|c.1151A>G|p.Lys384Arg|1393/6536|1151/3546|384/1181||,C|missense_variant|MODERATE|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|2/15|c.266A>G|p.Lys89Arg|1262/6540|266/2796|89/931||;p3_1000G_AA=T|||;p3_1000G_AC=3118;p3_1000G_AF=0.622604;p3_1000G_AFR_AF=0.3691;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=22598;p3_1000G_EAS_AF=0.6687;p3_1000G_EUR_AF=0.673;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154573967;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7699;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1888,2518;ESP6500_AA_AGE=542.0+/-375.9;ESP6500_AA_GTC=409,1070,724;ESP6500_CDS_SIZES=NM_015841.3:3546,NM_015840.3:3603,NM_001193495.1:2796,NM_001111.4:3681,NM_001025107.2:2796;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=229;ESP6500_EA_AC=6018,2582;ESP6500_EA_AGE=689.7+/-404.4;ESP6500_EA_GTC=2125,1768,407;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015841.3:missense,NM_015840.3:missense,NM_001193495.1:missense,NM_001111.4:missense,NM_001025107.2:missense;ESP6500_GL=ADAR;ESP6500_GRCh38_POSITION=1:154601491;ESP6500_GS=26,26,26,26,26;ESP6500_GTC=2534,2838,1131;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015841.3:c.1151A>G,NM_015840.3:c.1151A>G,NM_001193495.1:c.266A>G,NM_001111.4:c.1151A>G,NM_001025107.2:c.266A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015841.3:p.(K384R),NM_015840.3:p.(K384R),NM_001193495.1:p.(K89R),NM_001111.4:p.(K384R),NM_001025107.2:p.(K89R);ESP6500_MAF=30.0233,42.8507,39.2127;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=7906,5100;CLINVAR_ALLELEID=192273;CLINVAR_CLNDISDB=MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED_CT:239085000|MedGen:CN169374;CLINVAR_CLNDN=Symmetrical_dyschromatosis_of_extremities|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154601491T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2463|UniProtKB_(protein):P55265#VAR_017240;CLINVAR_GENEINFO=ADAR:103;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229857	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1349,0,1884
chr1	154602344	rs1466731;500335	T	C	1798.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=0.865;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1466731;dbSNPBuildID=88;ANN=C|missense_variant|MODERATE|ADAR|ADAR|transcript|NM_001111.4|protein_coding|2/15|c.298A>G|p.Arg100Gly|540/6671|298/3681|100/1226||,C|missense_variant|MODERATE|ADAR|ADAR|transcript|NM_015840.3|protein_coding|2/15|c.298A>G|p.Arg100Gly|540/6593|298/3603|100/1200||,C|missense_variant|MODERATE|ADAR|ADAR|transcript|NM_015841.3|protein_coding|2/15|c.298A>G|p.Arg100Gly|540/6536|298/3546|100/1181||,C|5_prime_UTR_variant|MODIFIER|ADAR|ADAR|transcript|NM_001193495.1|protein_coding|2/15|c.-588A>G|||||588|,C|5_prime_UTR_variant|MODIFIER|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|2/15|c.-588A>G|||||588|;p3_1000G_AA=C|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17273;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154574820;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4351,55;ESP6500_AA_AGE=54.9+/-90.9;ESP6500_AA_GTC=2148,55,0;ESP6500_CDS_SIZES=NM_015841.3:3546,NM_015840.3:3603,NM_001193495.1:2796,NM_001111.4:3681,NM_001025107.2:2796;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=71;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015841.3:missense,NM_015840.3:missense,NM_001193495.1:utr-5,NM_001111.4:missense,NM_001025107.2:utr-5;ESP6500_GL=ADAR;ESP6500_GRCh38_POSITION=1:154602344;ESP6500_GS=125,125,.,125,.;ESP6500_GTC=6447,56,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015841.3:c.298A>G,NM_015840.3:c.298A>G,NM_001193495.1:c.-588A>G,NM_001111.4:c.298A>G,NM_001025107.2:c.-588A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015841.3:p.(R100G),NM_015840.3:p.(R100G),.,NM_001111.4:p.(R100G),.;ESP6500_MAF=0.0116,1.2483,0.4306;ESP6500_PH=benign:0.0,benign:0.0,.,benign:0.0,.;ESP6500_TAC=12950,56;CLINVAR_ALLELEID=491759;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154602344T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ADAR:103;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1466731	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1827,186,0
chr1	154602564	rs1802645;257476	C	T	1426.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=1.154;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1802645;dbSNPBuildID=89;ANN=T|sequence_feature|MODERATE|ADAR|ADAR|modified-residue:Asymmetric_dimethylarginine|NM_015840.3|protein_coding|2/15|c.78G>A||||||,T|synonymous_variant|LOW|ADAR|ADAR|transcript|NM_001111.4|protein_coding|2/15|c.78G>A|p.Arg26Arg|320/6671|78/3681|26/1226||,T|synonymous_variant|LOW|ADAR|ADAR|transcript|NM_015840.3|protein_coding|2/15|c.78G>A|p.Arg26Arg|320/6593|78/3603|26/1200||,T|synonymous_variant|LOW|ADAR|ADAR|transcript|NM_015841.3|protein_coding|2/15|c.78G>A|p.Arg26Arg|320/6536|78/3546|26/1181||,T|5_prime_UTR_variant|MODIFIER|ADAR|ADAR|transcript|NM_001193495.1|protein_coding|2/15|c.-808G>A|||||808|,T|5_prime_UTR_variant|MODIFIER|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|2/15|c.-808G>A|||||808|;p3_1000G_AA=T|||;p3_1000G_AC=4993;p3_1000G_AF=0.997005;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20779;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154575040;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4369,37;ESP6500_AA_AGE=40.0+/-72.8;ESP6500_AA_GTC=2166,37,0;ESP6500_CDS_SIZES=NM_015841.3:3546,NM_015840.3:3603,NM_001193495.1:2796,NM_001111.4:3681,NM_001025107.2:2796;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=48;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015841.3:coding-synonymous,NM_015840.3:coding-synonymous,NM_001193495.1:utr-5,NM_001111.4:coding-synonymous,NM_001025107.2:utr-5;ESP6500_GL=ADAR;ESP6500_GRCh38_POSITION=1:154602564;ESP6500_GTC=6466,37,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015841.3:c.78G>A,NM_015840.3:c.78G>A,NM_001193495.1:c.-808G>A,NM_001111.4:c.78G>A,NM_001025107.2:c.-808G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015841.3:p.(R26),NM_015840.3:p.(R26),.,NM_001111.4:p.(R26),.;ESP6500_MAF=0.0,0.8398,0.2845;ESP6500_TAC=12969,37;CLINVAR_ALLELEID=249409;CLINVAR_CLNDISDB=MedGen:C0406775,OMIM:127400,Orphanet:ORPHA41,SNOMED_CT:239085000|MedGen:CN169374;CLINVAR_CLNDN=Symmetrical_dyschromatosis_of_extremities|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154602564C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2484;CLINVAR_GENEINFO=ADAR:103;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1802645	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1455,135,0
chr1	154607872	rs71586026;rs777520937	G	GAC	919.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.751;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.805;SOR=0.536;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71586026;dbSNPBuildID=130,144;ANN=GAC|upstream_gene_variant|MODIFIER|ADAR|ADAR|transcript|NM_001193495.1|protein_coding||c.-6118_-6117dupGT|||||1573|,GAC|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001111.4|protein_coding|1/14|c.15+118_15+119dupGT||||||,GAC|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_015840.3|protein_coding|1/14|c.15+118_15+119dupGT||||||,GAC|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_015841.3|protein_coding|1/14|c.15+118_15+119dupGT||||||,GAC|intron_variant|MODIFIER|ADAR|ADAR|transcript|NM_001025107.2|protein_coding|1/14|c.-870-5248_-870-5247dupGT||||||;p3_1000G_AC=1361;p3_1000G_AF=0.271765;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=20446;p3_1000G_EAS_AF=0.3304;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154580348;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:29,31:60:99:957,0,912
chr1	154772331	rs1051614;403001	C	G	2966.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=1.952;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1051614;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|KCNN3|KCNN3|transcript|NM_001204087.1|protein_coding|3/9|c.1092G>C|p.Leu364Leu|1406/13065|1092/2241|364/746||,G|synonymous_variant|LOW|KCNN3|KCNN3|transcript|NM_170782.2|protein_coding|3/8|c.177G>C|p.Leu59Leu|327/11941|177/1281|59/426||,G|synonymous_variant|LOW|KCNN3|KCNN3|transcript|NM_002249.5|protein_coding|3/8|c.1092G>C|p.Leu364Leu|1406/13020|1092/2196|364/731||;p3_1000G_AA=G|||;p3_1000G_AC=2681;p3_1000G_AF=0.535343;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=21629;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.6252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154744807;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2275,2131;ESP6500_AA_AGE=577.5+/-384.5;ESP6500_AA_GTC=584,1107,512;ESP6500_CDS_SIZES=NM_170782.2:1281,NM_002249.5:2196,NM_001204087.1:2241;ESP6500_CG=-4.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=51;ESP6500_EA_AC=5289,3311;ESP6500_EA_AGE=487.9+/-372.2;ESP6500_EA_GTC=1634,2021,645;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170782.2:coding-synonymous,NM_002249.5:coding-synonymous,NM_001204087.1:coding-synonymous;ESP6500_GL=KCNN3;ESP6500_GRCh38_POSITION=1:154772331;ESP6500_GTC=2218,3128,1157;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_170782.2:c.177G>C,NM_002249.5:c.1092G>C,NM_001204087.1:c.1092G>C;ESP6500_HGVS_PROTEIN_VAR=NM_170782.2:p.(L59),NM_002249.5:p.(L364),NM_001204087.1:p.(L364);ESP6500_MAF=38.5,48.3659,41.8422;ESP6500_TAC=7564,5442;CLINVAR_ALLELEID=389335;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154772331C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNN3:3782;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1051614	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2995,243,0
chr1	154772376	rs1131820;403002	A	G	1738.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.09;SOR=1.848;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1131820;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|KCNN3|KCNN3|transcript|NM_001204087.1|protein_coding|3/9|c.1047T>C|p.Asn349Asn|1361/13065|1047/2241|349/746||,G|synonymous_variant|LOW|KCNN3|KCNN3|transcript|NM_170782.2|protein_coding|3/8|c.132T>C|p.Asn44Asn|282/11941|132/1281|44/426||,G|synonymous_variant|LOW|KCNN3|KCNN3|transcript|NM_002249.5|protein_coding|3/8|c.1047T>C|p.Asn349Asn|1361/13020|1047/2196|349/731||;p3_1000G_AA=A|||;p3_1000G_AC=3902;p3_1000G_AF=0.779153;p3_1000G_AFR_AF=0.593;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=20790;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.7445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154744852;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2822,1584;ESP6500_AA_AGE=664.1+/-401.3;ESP6500_AA_GTC=900,1022,281;ESP6500_CDS_SIZES=NM_170782.2:1281,NM_002249.5:2196,NM_001204087.1:2241;ESP6500_CG=-2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=36;ESP6500_EA_AC=6349,2251;ESP6500_EA_AGE=704.3+/-405.4;ESP6500_EA_GTC=2322,1705,273;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170782.2:coding-synonymous,NM_002249.5:coding-synonymous,NM_001204087.1:coding-synonymous;ESP6500_GL=KCNN3;ESP6500_GRCh38_POSITION=1:154772376;ESP6500_GTC=3222,2727,554;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_170782.2:c.132T>C,NM_002249.5:c.1047T>C,NM_001204087.1:c.1047T>C;ESP6500_HGVS_PROTEIN_VAR=NM_170782.2:p.(N44),NM_002249.5:p.(N349),NM_001204087.1:p.(N349);ESP6500_MAF=26.1744,35.951,29.4864;ESP6500_TAC=9171,3835;CLINVAR_ALLELEID=389312;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.154772376A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNN3:3782;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1131820	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1767,153,0
chr1	154772461	rs11589471	C	T	573.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11589471;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_001204087.1|protein_coding|2/8|c.1030-68G>A||||||,T|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_170782.2|protein_coding|2/7|c.115-68G>A||||||,T|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_002249.5|protein_coding|2/7|c.1030-68G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1686;p3_1000G_AF=0.336661;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=19075;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.4115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154744937;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:602,51,0
chr1	154859828	rs4845397	T	C	1892.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.44;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4845397;dbSNPBuildID=111;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|KCNN3|KCNN3|transcript|NM_170782.2|protein_coding|1/8|c.-116A>G||||||,C|5_prime_UTR_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_170782.2|protein_coding|1/8|c.-116A>G|||||116|,C|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_001204087.1|protein_coding|1/8|c.933+9204A>G||||||,C|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_002249.5|protein_coding|1/7|c.933+9204A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3592;p3_1000G_AF=0.717252;p3_1000G_AFR_AF=0.407;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=22491;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154832304;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:154859828_T_C:1921,135,0
chr1	154859846	rs1218586	A	C	1517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.77;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1218586;dbSNPBuildID=87;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|KCNN3|KCNN3|transcript|NM_170782.2|protein_coding|1/8|c.-134T>G||||||,C|5_prime_UTR_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_170782.2|protein_coding|1/8|c.-134T>G|||||134|,C|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_001204087.1|protein_coding|1/8|c.933+9186T>G||||||,C|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_002249.5|protein_coding|1/7|c.933+9186T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4797;p3_1000G_AF=0.957867;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=22757;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9602;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154832322;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,31:31:99:1|1:154859828_T_C:1546,105,0
chr1	154868939	rs57846577	TCTCTCTCTCTCACA	T	400.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.215;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.09;ReadPosRankSum=0;SOR=1.88;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs57846577;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_001204087.1|protein_coding|1/8|c.933+79_933+92delTGTGAGAGAGAGAG||||||,T|intron_variant|MODIFIER|KCNN3|KCNN3|transcript|NM_002249.5|protein_coding|1/7|c.933+79_933+92delTGTGAGAGAGAGAG||||||	GT:AD:DP:GQ:PL	0/1:8,11:19:99:438,0,303
chr1	154869723	rs3831942	G	GGCTGCTGCTGCTGCT	715.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNPBuildID=107;ANN=GGCTGCTGCTGCTGCT|conservative_inframe_insertion|MODERATE|KCNN3|KCNN3|transcript|NM_001204087.1|protein_coding|1/9|c.227_241dupAGCAGCAGCAGCAGC|p.Gln76_Gln80dup|555/13065|241/2241|81/746||,GGCTGCTGCTGCTGCT|conservative_inframe_insertion|MODERATE|KCNN3|KCNN3|transcript|NM_002249.5|protein_coding|1/8|c.227_241dupAGCAGCAGCAGCAGC|p.Gln76_Gln80dup|555/13020|241/2196|81/731||	GT:AD:DP:GQ:PL	1/1:0,13:13:52:753,52,0
chr1	154936792	rs1109815	A	G	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.1;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-2.065;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1109815;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|PMVK|PMVK|transcript|NM_006556.3|protein_coding|1/5|c.-107T>C|||||107|,G|upstream_gene_variant|MODIFIER|PMVK|PMVK|transcript|NM_001323011.1|protein_coding||c.-345T>C|||||330|,G|intron_variant|MODIFIER|PMVK|PMVK|transcript|NM_001323012.1|protein_coding|1/4|c.-130-4377T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3274;p3_1000G_AF=0.653754;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=16629;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.4384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154909268;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,8:22:99:273,0,408
chr1	154945225	rs906594	A	G	771.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs906594;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|PMVK|PMVK|transcript|NM_001323012.1|protein_coding||c.-16115T>C|||||2575|,G|intron_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_020524.3|protein_coding|10/10|c.2103-108T>C||||||,G|intron_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_001317734.1|protein_coding|9/9|c.2016-108T>C||||||,G|intron_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_001317735.1|protein_coding|7/7|c.1638-108T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4907;p3_1000G_AF=0.979832;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=20587;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154917701;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:800,69,0
chr1	154946604	rs2061690	C	T	650.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.228;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.149;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-1.448;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2061690;dbSNPBuildID=94;ANN=T|missense_variant|MODERATE|PBXIP1|PBXIP1|transcript|NM_020524.3|protein_coding|10/11|c.1070G>A|p.Gly357Asp|1201/3268|1070/2196|357/731||,T|missense_variant|MODERATE|PBXIP1|PBXIP1|transcript|NM_001317734.1|protein_coding|9/10|c.983G>A|p.Gly328Asp|1112/3179|983/2109|328/702||,T|missense_variant|MODERATE|PBXIP1|PBXIP1|transcript|NM_001317735.1|protein_coding|7/8|c.605G>A|p.Gly202Asp|781/2848|605/1731|202/576||,T|upstream_gene_variant|MODIFIER|PMVK|PMVK|transcript|NM_001323012.1|protein_coding||c.-17494G>A|||||3954|;p3_1000G_AA=C|||;p3_1000G_AC=2584;p3_1000G_AF=0.515974;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=16333;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.4334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154919080;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=893,3513;ESP6500_AA_AGE=341.5+/-306.7;ESP6500_AA_GTC=90,713,1400;ESP6500_CDS_SIZES=NM_020524.2:2196;ESP6500_CG=3.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=48;ESP6500_EA_AC=3740,4860;ESP6500_EA_AGE=528.4+/-381.4;ESP6500_EA_GTC=826,2088,1386;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020524.2:missense;ESP6500_GL=PBXIP1;ESP6500_GRCh38_POSITION=1:154946604;ESP6500_GS=94;ESP6500_GTC=916,2801,2786;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020524.2:c.1070G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020524.2:p.(G357D);ESP6500_MAF=43.4884,20.2678,35.622;ESP6500_PH=benign:0.087;ESP6500_TAC=4633,8373	GT:AD:DP:GQ:PL	0/1:22,24:46:99:679,0,683
chr1	154947089	rs3738026	A	G	415.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=4.74;MLEAC=1;MLEAF=0.5;MQ=55.92;MQRankSum=-1.414;QD=10.14;ReadPosRankSum=-0.157;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738026;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|PMVK|PMVK|transcript|NM_001323012.1|protein_coding||c.-17979T>C|||||4439|,G|intron_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_020524.3|protein_coding|9/10|c.871-286T>C||||||,G|intron_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_001317734.1|protein_coding|8/9|c.784-286T>C||||||,G|intron_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_001317735.1|protein_coding|6/7|c.406-286T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=2831;p3_1000G_AF=0.565296;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=22764;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154919565;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,15:41:99:444,0,742
chr1	154959281	rs141722381	T	A	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.862;SOR=1.304;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141722381;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|PYGO2|PYGO2|transcript|NM_138300.3|protein_coding|3/3|c.719A>T|p.Asn240Ile|925/3180|719/1221|240/406||,A|upstream_gene_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_020524.3|protein_coding||c.-5560A>T|||||3118|,A|upstream_gene_variant|MODIFIER|LOC101928120|LOC101928120|transcript|NM_001321726.1|protein_coding||c.-2332T>A|||||2190|,A|upstream_gene_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_001317734.1|protein_coding||c.-7396A>T|||||3118|,A|upstream_gene_variant|MODIFIER|PBXIP1|PBXIP1|transcript|NM_001317735.1|protein_coding||c.-10971A>T|||||3118|,A|downstream_gene_variant|MODIFIER|SHC1|SHC1|transcript|NM_001130040.1|protein_coding||c.*4522A>T|||||3017|,A|downstream_gene_variant|MODIFIER|SHC1|SHC1|transcript|NM_183001.4|protein_coding||c.*4522A>T|||||3017|,A|downstream_gene_variant|MODIFIER|SHC1|SHC1|transcript|NM_001130041.1|protein_coding||c.*4522A>T|||||3017|,A|downstream_gene_variant|MODIFIER|SHC1|SHC1|transcript|NM_001202859.1|protein_coding||c.*4522A>T|||||3017|,A|downstream_gene_variant|MODIFIER|SHC1|SHC1|transcript|NM_003029.4|protein_coding||c.*4522A>T|||||3017|;p3_1000G_AA=T|||;p3_1000G_AC=32;p3_1000G_AF=0.00638978;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15866;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154931757;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_138300.3:1221;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=24;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138300.3:missense;ESP6500_GL=PYGO2;ESP6500_GRCh38_POSITION=1:154959281;ESP6500_GS=149;ESP6500_GTC=0,1,6502;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_138300.3:c.719A>T;ESP6500_HGVS_PROTEIN_VAR=NM_138300.3:p.(N240I);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=probably-damaging:0.968;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:8,12:20:99:322,0,215
chr1	155011063	rs6686021	C	T	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.54;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-0.732;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6686021;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NM_001252406.2|protein_coding|3/4|c.96+48C>T||||||,T|intron_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NM_001256455.1|protein_coding|1/2|c.-6-3592C>T||||||,T|intron_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_045515.1|pseudogene|4/5|n.381+48C>T||||||,T|intron_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_046206.1|pseudogene|2/4|n.159-2952C>T||||||,T|intron_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_049765.1|pseudogene|2/3|n.159-3592C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2295;p3_1000G_AF=0.458267;p3_1000G_AFR_AF=0.2345;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=14440;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.4245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154983539;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:93:93,0,150
chr1	155015050	rs11264295	C	T	559.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.675;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.013;SOR=0.816;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264295;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ZBTB7B|ZBTB7B|transcript|NM_001252406.2|protein_coding|4/5|c.492C>T|p.Ile164Ile|950/4020|492/1722|164/573||,T|synonymous_variant|LOW|ZBTB7B|ZBTB7B|transcript|NM_001256455.1|protein_coding|2/3|c.390C>T|p.Ile130Ile|710/3780|390/1620|130/539||,T|downstream_gene_variant|MODIFIER|DCST2|DCST2|transcript|NM_144622.2|protein_coding||c.*3494G>A|||||3477|,T|non_coding_transcript_exon_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_045515.1|pseudogene|5/6|n.777C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_046206.1|pseudogene|4/5|n.633C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_049765.1|pseudogene|3/4|n.554C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3094;p3_1000G_AF=0.617812;p3_1000G_AFR_AF=0.4592;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=16567;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.4513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154987526;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2075,2331;ESP6500_AA_GTC=472,1131,600;ESP6500_CDS_SIZES=NM_001256455.1:1620,NM_001252406.2:1722;ESP6500_CG=0.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=3651,4949;ESP6500_EA_GTC=771,2109,1420;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001256455.1:coding-synonymous,NM_001252406.2:coding-synonymous;ESP6500_GL=ZBTB7B;ESP6500_GRCh38_POSITION=1:155015050;ESP6500_GTC=1243,3240,2020;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001256455.1:c.390C>T,NM_001252406.2:c.492C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001256455.1:p.(I130),NM_001252406.2:p.(I164);ESP6500_MAF=42.4535,47.0949,44.0258;ESP6500_TAC=5726,7280	GT:AD:DP:GQ:PL	0/1:30,23:53:99:588,0,861
chr1	155016481	rs2242195	A	G	1426.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.71;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=5.516;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-0.753;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242195;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|ZBTB7B|ZBTB7B|transcript|NM_001252406.2|protein_coding|5/5|c.1518A>G|p.Pro506Pro|1976/4020|1518/1722|506/573||,G|synonymous_variant|LOW|ZBTB7B|ZBTB7B|transcript|NM_001256455.1|protein_coding|3/3|c.1416A>G|p.Pro472Pro|1736/3780|1416/1620|472/539||,G|downstream_gene_variant|MODIFIER|DCST2|DCST2|transcript|NM_144622.2|protein_coding||c.*2063T>C|||||2046|,G|non_coding_transcript_exon_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_045515.1|pseudogene|6/6|n.1803A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_046206.1|pseudogene|5/5|n.1659A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_049765.1|pseudogene|4/4|n.1580A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3373;p3_1000G_AF=0.673522;p3_1000G_AFR_AF=0.4811;p3_1000G_AMR_AF=0.7478;p3_1000G_AN=5008;p3_1000G_DP=17839;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.5785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154988957;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2259,2147;ESP6500_AA_AGE=576.8+/-384.3;ESP6500_AA_GTC=574,1111,518;ESP6500_CDS_SIZES=NM_001256455.1:1620,NM_001252406.2:1722;ESP6500_CG=-7.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=87;ESP6500_EA_AC=4787,3813;ESP6500_EA_AGE=538.4+/-383.4;ESP6500_EA_GTC=1330,2127,843;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001256455.1:coding-synonymous,NM_001252406.2:coding-synonymous;ESP6500_GL=ZBTB7B;ESP6500_GRCh38_POSITION=1:155016481;ESP6500_GTC=1904,3238,1361;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001256455.1:c.1416A>G,NM_001252406.2:c.1518A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001256455.1:p.(P472),NM_001252406.2:p.(P506);ESP6500_MAF=44.3372,48.729,45.825;ESP6500_TAC=7046,5960	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1455,0,982
chr1	155023027	rs2242193	G	A	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.331;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=-0.194;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242193;dbSNPBuildID=98;ANN=A|downstream_gene_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NM_001252406.2|protein_coding||c.*6342G>A|||||4502|,A|downstream_gene_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NM_001256455.1|protein_coding||c.*6342G>A|||||4502|,A|downstream_gene_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_045515.1|pseudogene||n.*4502G>A|||||4502|,A|downstream_gene_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_046206.1|pseudogene||n.*4502G>A|||||4502|,A|downstream_gene_variant|MODIFIER|ZBTB7B|ZBTB7B|transcript|NR_049765.1|pseudogene||n.*4502G>A|||||4502|,A|intron_variant|MODIFIER|DCST2|DCST2|transcript|NM_144622.2|protein_coding|14/14|c.2105+90C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3100;p3_1000G_AF=0.61901;p3_1000G_AFR_AF=0.4569;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=20854;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.4503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154995503;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:300,0,162
chr1	155054466	rs6427128	A	C	1277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427128;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_207197.2|protein_coding|6/23|c.572A>C|p.Lys191Thr|687/2981|572/2592|191/863||,C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_001261466.1|protein_coding|6/15|c.524A>C|p.Lys175Thr|639/2226|524/1902|175/633||,C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_001261464.1|protein_coding|6/21|c.602A>C|p.Lys201Thr|717/2864|602/2475|201/824||,C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_001261465.1|protein_coding|6/21|c.572A>C|p.Lys191Thr|687/2836|572/2391|191/796||,C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_003815.4|protein_coding|6/21|c.572A>C|p.Lys191Thr|687/2834|572/2445|191/814||,C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_207191.2|protein_coding|6/20|c.572A>C|p.Lys191Thr|687/2764|572/2319|191/772||,C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_207194.2|protein_coding|6/22|c.572A>C|p.Lys191Thr|687/2909|572/2520|191/839||,C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_207195.2|protein_coding|6/22|c.572A>C|p.Lys191Thr|687/2906|572/2517|191/838||,C|missense_variant|MODERATE|ADAM15|ADAM15|transcript|NM_207196.2|protein_coding|6/23|c.572A>C|p.Lys191Thr|687/2978|572/2589|191/862||,C|upstream_gene_variant|MODIFIER|LOC100505666|LOC100505666|transcript|NR_040772.1|pseudogene||n.-3301T>G|||||3301|,C|downstream_gene_variant|MODIFIER|DCST1|DCST1|transcript|NM_152494.3|protein_coding||c.*3598A>C|||||3536|,C|downstream_gene_variant|MODIFIER|DCST1|DCST1|transcript|NM_001143687.2|protein_coding||c.*3598A>C|||||3536|,C|intron_variant|MODIFIER|LOC100505666|LOC100505666|transcript|NR_040773.1|pseudogene|1/3|n.236-5105T>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|ADAM15|ADAM15|transcript|NR_048577.1|pseudogene|6/23|n.687A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|ADAM15|ADAM15|transcript|NR_048578.1|pseudogene|6/23|n.687A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|ADAM15|ADAM15|transcript|NR_048579.1|pseudogene|6/22|n.687A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4517;p3_1000G_AF=0.901957;p3_1000G_AFR_AF=0.8676;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=15794;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8439;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155026942;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3954,452;ESP6500_AA_AGE=204.8+/-226.9;ESP6500_AA_GTC=1770,414,19;ESP6500_CDS_SIZES=NM_207197.2:2592,NM_207196.2:2589,NM_207195.2:2517,NM_207194.2:2520,NM_207191.2:2319,NM_003815.4:2445,NM_001261466.1:1902,NM_001261465.1:2391,NM_001261464.1:2475;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=7391,1209;ESP6500_EA_AGE=230.0+/-264.5;ESP6500_EA_GTC=3180,1031,89;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207197.2:missense,NM_207196.2:missense,NM_207195.2:missense,NM_207194.2:missense,NM_207191.2:missense,NM_003815.4:missense,NM_001261466.1:missense,NM_001261465.1:missense,NM_001261464.1:missense;ESP6500_GL=ADAM15;ESP6500_GRCh38_POSITION=1:155054466;ESP6500_GS=78,78,78,78,78,78,78,78,78;ESP6500_GTC=4950,1445,108;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_207197.2:c.572A>C,NM_207196.2:c.572A>C,NM_207195.2:c.572A>C,NM_207194.2:c.572A>C,NM_207191.2:c.572A>C,NM_003815.4:c.572A>C,NM_001261466.1:c.524A>C,NM_001261465.1:c.572A>C,NM_001261464.1:c.602A>C;ESP6500_HGVS_PROTEIN_VAR=NM_207197.2:p.(K191T),NM_207196.2:p.(K191T),NM_207195.2:p.(K191T),NM_207194.2:p.(K191T),NM_207191.2:p.(K191T),NM_003815.4:p.(K191T),NM_001261466.1:p.(K175T),NM_001261465.1:p.(K191T),NM_001261464.1:p.(K201T);ESP6500_MAF=14.0581,10.2587,12.771;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=11345,1661	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1306,120,0
chr1	155060841	rs11264304	T	C	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.365;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.51;ReadPosRankSum=0.082;SOR=1.785;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264304;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|EFNA4|EFNA4|transcript|NM_182689.1|protein_coding||c.-2983T>C|||||2896|,C|upstream_gene_variant|MODIFIER|EFNA4|EFNA4|transcript|NM_005227.2|protein_coding||c.-2983T>C|||||2896|,C|upstream_gene_variant|MODIFIER|EFNA4|EFNA4|transcript|NM_182690.2|protein_coding||c.-2983T>C|||||2896|,C|downstream_gene_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_001261466.1|protein_coding||c.*2367T>C|||||2158|,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_207197.2|protein_coding|19/22|c.2277+9T>C||||||,C|intron_variant|MODIFIER|LOC100505666|LOC100505666|transcript|NR_040773.1|pseudogene|1/3|n.235+2916A>G||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_001261464.1|protein_coding|19/20|c.2307+9T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_001261465.1|protein_coding|18/20|c.2207+498T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_003815.4|protein_coding|19/20|c.2277+9T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_207191.2|protein_coding|18/19|c.2207+498T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_207194.2|protein_coding|19/21|c.2277+9T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_207195.2|protein_coding|19/21|c.2277+9T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NM_207196.2|protein_coding|19/22|c.2277+9T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NR_048577.1|pseudogene|19/22|n.2392+9T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NR_048578.1|pseudogene|19/22|n.2392+9T>C||||||,C|intron_variant|MODIFIER|ADAM15|ADAM15|transcript|NR_048579.1|pseudogene|19/21|n.2392+9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3489;p3_1000G_AF=0.696685;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=18526;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155033317;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2341,2065;ESP6500_AA_AGE=567.7+/-382.2;ESP6500_AA_GTC=625,1091,487;ESP6500_CDS_SIZES=NM_207197.2:2592,NM_207196.2:2589,NM_207195.2:2517,NM_207194.2:2520,NM_207191.2:2319,NM_003815.4:2445,NM_001261465.1:2391,NM_001261464.1:2475;ESP6500_CG=-0.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=5965,2635;ESP6500_EA_AGE=422.1+/-353.9;ESP6500_EA_GTC=2058,1849,393;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207197.2:intron,NM_207196.2:intron,NM_207195.2:intron,NM_207194.2:intron,NM_207191.2:intron,NM_003815.4:intron,NM_001261465.1:intron,NM_001261464.1:intron;ESP6500_GL=ADAM15;ESP6500_GRCh38_POSITION=1:155060841;ESP6500_GTC=2683,2940,880;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207197.2:c.2277+9T>C,NM_207196.2:c.2277+9T>C,NM_207195.2:c.2277+9T>C,NM_207194.2:c.2277+9T>C,NM_207191.2:c.2207+498T>C,NM_003815.4:c.2277+9T>C,NM_001261465.1:c.2207+498T>C,NM_001261464.1:c.2307+9T>C;ESP6500_MAF=30.6395,46.8679,36.1372;ESP6500_TAC=8306,4700	GT:AD:DP:GQ:PL	0/1:16,7:23:99:155,0,397
chr1	155085023	rs3766918	A	G	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.392;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=1.23;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766918;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|EFNA3|EFNA3|transcript|NM_004952.4|protein_coding|1/4|c.129-68A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3495;p3_1000G_AF=0.697883;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=14001;p3_1000G_EAS_AF=0.9177;p3_1000G_EUR_AF=0.5815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155057499;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,12:18:99:310,0,124
chr1	155133406	rs4971066	T	G	1004.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.32;ReadPosRankSum=-1.33;SOR=0.915;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4971066;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_018845.3|protein_coding||c.-2506T>G|||||2406|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287590.1|protein_coding||c.-2266T>G|||||1938|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287591.1|protein_coding||c.-2909T>G|||||1938|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287592.1|protein_coding||c.-2181T>G|||||1938|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122837.1|protein_coding||c.-2547T>G|||||2406|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122839.1|protein_coding||c.-2506T>G|||||2406|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287586.1|protein_coding||c.-2547T>G|||||2406|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287587.1|protein_coding||c.-2547T>G|||||2406|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287588.1|protein_coding||c.-2547T>G|||||2406|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287589.1|protein_coding||c.-2547T>G|||||2406|,G|intron_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_004428.2|protein_coding|2/4|c.389-97T>G||||||,G|intron_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_182685.1|protein_coding|2/3|c.389-324T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1620;p3_1000G_AF=0.323482;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=19714;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.1461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155105882;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,34:52:99:1033,0,414
chr1	155133578	rs4390169	A	G	1040.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.923;SOR=0.62;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4390169;dbSNPBuildID=111;ANN=G|sequence_feature|LOW|EFNA1|EFNA1|glycosylation-site:O-linked_(GalNAc...)|NM_004428.2|protein_coding|3/4|c.454+10A>G||||||,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_018845.3|protein_coding||c.-2334A>G|||||2234|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287590.1|protein_coding||c.-2094A>G|||||1766|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287591.1|protein_coding||c.-2737A>G|||||1766|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287592.1|protein_coding||c.-2009A>G|||||1766|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122837.1|protein_coding||c.-2375A>G|||||2234|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122839.1|protein_coding||c.-2334A>G|||||2234|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287586.1|protein_coding||c.-2375A>G|||||2234|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287587.1|protein_coding||c.-2375A>G|||||2234|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287588.1|protein_coding||c.-2375A>G|||||2234|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287589.1|protein_coding||c.-2375A>G|||||2234|,G|intron_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_004428.2|protein_coding|3/4|c.454+10A>G||||||,G|intron_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_182685.1|protein_coding|2/3|c.389-152A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1601;p3_1000G_AF=0.319688;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=19013;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.5219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155106054;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=767,3639;ESP6500_AA_AGE=311.6+/-292.2;ESP6500_AA_GTC=67,633,1503;ESP6500_CDS_SIZES=NM_182685.1:552,NM_004428.2:618;ESP6500_CG=-4.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=95;ESP6500_EA_AC=4547,4053;ESP6500_EA_AGE=595.4+/-393.5;ESP6500_EA_GTC=1194,2159,947;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182685.1:intron,NM_004428.2:intron;ESP6500_GL=EFNA1;ESP6500_GRCh38_POSITION=1:155133578;ESP6500_GTC=1261,2792,2450;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182685.1:c.389-152A>G,NM_004428.2:c.454+10A>G;ESP6500_MAF=47.1279,17.4081,40.8581;ESP6500_TAC=5314,7692	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1069,0,1205
chr1	155133751	rs4745	A	T	1234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.13;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=3.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.837;SOR=0.552;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4745;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|EFNA1|EFNA1|transcript|NM_004428.2|protein_coding|4/5|c.476A>T|p.Asp159Val|581/1566|476/618|159/205||,T|missense_variant|MODERATE|EFNA1|EFNA1|transcript|NM_182685.1|protein_coding|3/4|c.410A>T|p.Asp137Val|515/1500|410/552|137/183||,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_018845.3|protein_coding||c.-2161A>T|||||2061|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287590.1|protein_coding||c.-1921A>T|||||1593|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287591.1|protein_coding||c.-2564A>T|||||1593|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287592.1|protein_coding||c.-1836A>T|||||1593|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122837.1|protein_coding||c.-2202A>T|||||2061|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122839.1|protein_coding||c.-2161A>T|||||2061|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287586.1|protein_coding||c.-2202A>T|||||2061|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287587.1|protein_coding||c.-2202A>T|||||2061|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287588.1|protein_coding||c.-2202A>T|||||2061|,T|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287589.1|protein_coding||c.-2202A>T|||||2061|;p3_1000G_AA=A|||;p3_1000G_AC=1602;p3_1000G_AF=0.319888;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=21251;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.5209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155106227;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=766,3640;ESP6500_AA_AGE=311.4+/-292.0;ESP6500_AA_GTC=67,632,1504;ESP6500_CDS_SIZES=NM_182685.1:552,NM_004428.2:618;ESP6500_CG=-0.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=122;ESP6500_EA_AC=4547,4053;ESP6500_EA_AGE=595.4+/-393.5;ESP6500_EA_GTC=1194,2159,947;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182685.1:missense,NM_004428.2:missense;ESP6500_GL=EFNA1;ESP6500_GRCh38_POSITION=1:155133751;ESP6500_GS=152,152;ESP6500_GTC=1261,2791,2451;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_182685.1:c.410A>T,NM_004428.2:c.476A>T;ESP6500_HGVS_PROTEIN_VAR=NM_182685.1:p.(D137V),NM_004428.2:p.(D159V);ESP6500_MAF=47.1279,17.3854,40.8504;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=5313,7693	GT:AD:DP:GQ:PL	0/1:33,48:81:99:1263,0,853
chr1	155134074	rs9297	A	G	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=3.63;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.582;SOR=1.211;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9297;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_004428.2|protein_coding|5/5|c.*7A>G|||||7|,G|3_prime_UTR_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_182685.1|protein_coding|4/4|c.*7A>G|||||7|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_018845.3|protein_coding||c.-1838A>G|||||1738|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287590.1|protein_coding||c.-1598A>G|||||1270|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287591.1|protein_coding||c.-2241A>G|||||1270|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287592.1|protein_coding||c.-1513A>G|||||1270|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122837.1|protein_coding||c.-1879A>G|||||1738|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122839.1|protein_coding||c.-1838A>G|||||1738|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287586.1|protein_coding||c.-1879A>G|||||1738|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287587.1|protein_coding||c.-1879A>G|||||1738|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287588.1|protein_coding||c.-1879A>G|||||1738|,G|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287589.1|protein_coding||c.-1879A>G|||||1738|;p3_1000G_AA=A|||;p3_1000G_AC=2425;p3_1000G_AF=0.484225;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=21030;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155106550;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1300,3106;ESP6500_AA_AGE=440.8+/-346.1;ESP6500_AA_GTC=197,906,1100;ESP6500_CDS_SIZES=NM_182685.1:552,NM_004428.2:618;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=58;ESP6500_EA_AC=3450,5150;ESP6500_EA_AGE=501.9+/-375.6;ESP6500_EA_GTC=680,2090,1530;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182685.1:utr-3,NM_004428.2:utr-3;ESP6500_GL=EFNA1;ESP6500_GRCh38_POSITION=1:155134074;ESP6500_GTC=877,2996,2630;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182685.1:c.*7A>G,NM_004428.2:c.*7A>G;ESP6500_MAF=40.1163,29.5052,36.5216;ESP6500_TAC=4750,8256	GT:AD:DP:GQ:PL	0/1:39,23:62:99:571,0,971
chr1	155135811	rs11264333	G	A	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.558;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.737;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.096;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264333;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_018845.3|protein_coding||c.-101G>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122837.1|protein_coding||c.-142G>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122839.1|protein_coding||c.-101G>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287586.1|protein_coding||c.-142G>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287587.1|protein_coding||c.-142G>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287588.1|protein_coding||c.-142G>A|||||1|,A|upstream_gene_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287589.1|protein_coding||c.-142G>A|||||1|,A|downstream_gene_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_004428.2|protein_coding||c.*1744G>A|||||901|,A|downstream_gene_variant|MODIFIER|DPM3|DPM3|transcript|NM_018973.3|protein_coding||c.*4151C>T|||||4080|,A|downstream_gene_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_182685.1|protein_coding||c.*1744G>A|||||901|,A|downstream_gene_variant|MODIFIER|DPM3|DPM3|transcript|NM_153741.1|protein_coding||c.*4151C>T|||||4080|,A|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287590.1|protein_coding|1/4|c.9+131G>A||||||,A|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287591.1|protein_coding|1/5|c.-17+213G>A||||||,A|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287592.1|protein_coding|1/3|c.12+213G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2522;p3_1000G_AF=0.503594;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=11988;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155108287;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,13:28:99:346,0,494
chr1	155136187	rs56367425	A	AG	439.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.32;SOR=5.549;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs56367425;dbSNPBuildID=135;ANN=AG|downstream_gene_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_004428.2|protein_coding||c.*2120_*2121insG|||||1278|,AG|downstream_gene_variant|MODIFIER|DPM3|DPM3|transcript|NM_018973.3|protein_coding||c.*3774dupC|||||3703|,AG|downstream_gene_variant|MODIFIER|EFNA1|EFNA1|transcript|NM_182685.1|protein_coding||c.*2120_*2121insG|||||1278|,AG|downstream_gene_variant|MODIFIER|DPM3|DPM3|transcript|NM_153741.1|protein_coding||c.*3774dupC|||||3703|,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_018845.3|protein_coding|1/5|c.81-107dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287590.1|protein_coding|1/4|c.10-107dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287591.1|protein_coding|1/5|c.-16-107dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287592.1|protein_coding|1/3|c.13-107dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122837.1|protein_coding|1/4|c.40-107dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001122839.1|protein_coding|1/4|c.81-107dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287586.1|protein_coding|1/4|c.20+220dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287587.1|protein_coding|1/5|c.40-107dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287588.1|protein_coding|1/4|c.40-107dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SLC50A1|SLC50A1|transcript|NM_001287589.1|protein_coding|1/3|c.40-107dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4896;p3_1000G_AF=0.977636;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=11364;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155108663;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:477,45,0
chr1	155169734	rs4421576	A	G	709.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=5.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.727;SOR=1.414;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4421576;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_025058.4|protein_coding||c.-4233A>G|||||4053|,G|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001282379.1|protein_coding||c.-4233A>G|||||4053|,G|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_104150.1|pseudogene||n.-4053A>G|||||4053|,G|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001256599.1|protein_coding||c.-5658A>G|||||4053|,G|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001256600.1|protein_coding||c.-4884A>G|||||4053|,G|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001282378.1|protein_coding||c.-6207A>G|||||4053|,G|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_046327.1|pseudogene||n.-4053A>G|||||4053|,G|intron_variant|MODIFIER|KRTCAP2|KRTCAP2|transcript|NM_173852.3|protein_coding|4/4|c.368+57T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3133;p3_1000G_AF=0.625599;p3_1000G_AFR_AF=0.6498;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=22901;p3_1000G_EAS_AF=0.7897;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155142210;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=919,465;ESP6500_AA_GTC=305,309,78;ESP6500_CDS_SIZES=NM_173852.3:489;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=121;ESP6500_EA_AC=1514,1668;ESP6500_EA_GTC=352,810,429;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173852.3:intron;ESP6500_GL=KRTCAP2;ESP6500_GRCh38_POSITION=1:155169734;ESP6500_GTC=657,1119,507;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173852.3:c.368+57T>C;ESP6500_MAF=47.5801,33.5983,46.7148;ESP6500_TAC=2433,2133	GT:AD:DP:GQ:PL	0/1:27,26:53:99:738,0,748
chr1	155169753	rs4276914	G	A	698.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.82;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=5.473;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-2.151;SOR=1.153;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4276914;dbSNPBuildID=111;ANN=A|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_025058.4|protein_coding||c.-4214G>A|||||4034|,A|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001282379.1|protein_coding||c.-4214G>A|||||4034|,A|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_104150.1|pseudogene||n.-4034G>A|||||4034|,A|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001256599.1|protein_coding||c.-5639G>A|||||4034|,A|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001256600.1|protein_coding||c.-4865G>A|||||4034|,A|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001282378.1|protein_coding||c.-6188G>A|||||4034|,A|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_046327.1|pseudogene||n.-4034G>A|||||4034|,A|intron_variant|MODIFIER|KRTCAP2|KRTCAP2|transcript|NM_173852.3|protein_coding|4/4|c.368+38C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3132;p3_1000G_AF=0.625399;p3_1000G_AFR_AF=0.6498;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=22856;p3_1000G_EAS_AF=0.7897;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155142229;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2936,1458;ESP6500_AA_GTC=987,962,248;ESP6500_CDS_SIZES=NM_173852.3:489;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=78;ESP6500_EA_AC=4096,4502;ESP6500_EA_GTC=979,2138,1182;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173852.3:intron;ESP6500_GL=KRTCAP2;ESP6500_GRCh38_POSITION=1:155169753;ESP6500_GTC=1966,3100,1430;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173852.3:c.368+38C>T;ESP6500_MAF=47.639,33.1816,45.8744;ESP6500_TAC=7032,5960	GT:AD:DP:GQ:PL	0/1:27,29:56:99:727,0,659
chr1	155173323	rs145938518	CT	C	1332.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.695;SOR=0.673;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs145938518;dbSNPBuildID=134;ANN=C|5_prime_UTR_variant|MODIFIER|KRTCAP2|KRTCAP2|transcript|NM_173852.3|protein_coding|1/5|c.-22delA|||||22|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_025058.4|protein_coding||c.-643delT|||||463|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001282379.1|protein_coding||c.-643delT|||||463|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_104150.1|pseudogene||n.-463delT|||||463|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001256599.1|protein_coding||c.-2068delT|||||463|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001256600.1|protein_coding||c.-1294delT|||||463|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001282378.1|protein_coding||c.-2617delT|||||463|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_046327.1|pseudogene||n.-463delT|||||463|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NM_001256601.1|protein_coding||c.-1490delT|||||1430|,C|upstream_gene_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_046329.1|pseudogene||n.-1430delT|||||1430|;p3_1000G_AA=TT|TT|T|deletion;p3_1000G_AC=35;p3_1000G_AF=0.00698882;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18720;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155145799;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL;ESP6500_AA_AC=0,4266;ESP6500_AA_GTC=0,0,2133;ESP6500_CDS_SIZES=NM_173852.3:489;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=25;ESP6500_EA_AC=1,8249;ESP6500_EA_GTC=0,1,4124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173852.3:utr-5;ESP6500_GL=KRTCAP2;ESP6500_GRCh38_POSITION=1:155173323;ESP6500_GTC=0,1,6257;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_173852.3:c.-22del1;ESP6500_MAF=0.0121,0.0,0.0080;ESP6500_TAC=1,12515	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1370,0,1140
chr1	155176038	rs375842313	G	A	629.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.564;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=3.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.25;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375842313;dbSNPBuildID=138;ANN=A|missense_variant|MODERATE|TRIM46|TRIM46|transcript|NM_025058.4|protein_coding|3/10|c.476G>A|p.Arg159Gln|656/3241|476/2280|159/759||,A|missense_variant|MODERATE|TRIM46|TRIM46|transcript|NM_001282379.1|protein_coding|3/9|c.476G>A|p.Arg159Gln|656/1949|476/1656|159/551||,A|missense_variant|MODERATE|TRIM46|TRIM46|transcript|NM_001256599.1|protein_coding|3/10|c.407G>A|p.Arg136Gln|666/3251|407/2211|136/736||,A|missense_variant|MODERATE|TRIM46|TRIM46|transcript|NM_001256600.1|protein_coding|4/11|c.437G>A|p.Arg146Gln|697/3195|437/2154|146/717||,A|missense_variant|MODERATE|TRIM46|TRIM46|transcript|NM_001282378.1|protein_coding|2/9|c.98G>A|p.Arg33Gln|394/2979|98/1902|33/633||,A|missense_variant|MODERATE|TRIM46|TRIM46|transcript|NM_001256601.1|protein_coding|3/10|c.437G>A|p.Arg146Gln|497/3082|437/2241|146/746||,A|upstream_gene_variant|MODIFIER|KRTCAP2|KRTCAP2|transcript|NM_173852.3|protein_coding||c.-2736C>T|||||2710|,A|non_coding_transcript_exon_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_104150.1|pseudogene|3/10|n.656G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_046327.1|pseudogene|3/11|n.656G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_046329.1|pseudogene|4/12|n.715G>A||||||;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_025058.4:2280,NM_001256601.1:2241,NM_001256600.1:2154,NM_001256599.1:2211;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=186;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025058.4:missense,NM_001256601.1:missense,NM_001256600.1:missense,NM_001256599.1:missense;ESP6500_GL=TRIM46;ESP6500_GRCh38_POSITION=1:155176038;ESP6500_GS=43,43,43,43;ESP6500_GTC=0,1,6502;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025058.4:c.476G>A,NM_001256601.1:c.437G>A,NM_001256600.1:c.437G>A,NM_001256599.1:c.407G>A;ESP6500_HGVS_PROTEIN_VAR=NM_025058.4:p.(R159Q),NM_001256601.1:p.(R146Q),NM_001256600.1:p.(R146Q),NM_001256599.1:p.(R136Q);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:25,28:53:99:658,0,678
chr1	155177242	rs3814316	G	A	812.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.221;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=3.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.13;SOR=1.068;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3814316;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|TRIM46|TRIM46|transcript|NM_025058.4|protein_coding|5/10|c.861G>A|p.Thr287Thr|1041/3241|861/2280|287/759||,A|synonymous_variant|LOW|TRIM46|TRIM46|transcript|NM_001282379.1|protein_coding|5/9|c.861G>A|p.Thr287Thr|1041/1949|861/1656|287/551||,A|synonymous_variant|LOW|TRIM46|TRIM46|transcript|NM_001256599.1|protein_coding|5/10|c.792G>A|p.Thr264Thr|1051/3251|792/2211|264/736||,A|synonymous_variant|LOW|TRIM46|TRIM46|transcript|NM_001256600.1|protein_coding|6/11|c.822G>A|p.Thr274Thr|1082/3195|822/2154|274/717||,A|synonymous_variant|LOW|TRIM46|TRIM46|transcript|NM_001282378.1|protein_coding|4/9|c.483G>A|p.Thr161Thr|779/2979|483/1902|161/633||,A|synonymous_variant|LOW|TRIM46|TRIM46|transcript|NM_001256601.1|protein_coding|5/10|c.822G>A|p.Thr274Thr|882/3082|822/2241|274/746||,A|upstream_gene_variant|MODIFIER|KRTCAP2|KRTCAP2|transcript|NM_173852.3|protein_coding||c.-3940C>T|||||3914|,A|non_coding_transcript_exon_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_104150.1|pseudogene|5/10|n.1041G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_046327.1|pseudogene|5/11|n.1041G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|TRIM46|TRIM46|transcript|NR_046329.1|pseudogene|6/12|n.1100G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2233;p3_1000G_AF=0.445887;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=21930;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.3579;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155149718;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1205,3201;ESP6500_AA_AGE=421.1+/-339.2;ESP6500_AA_GTC=169,867,1167;ESP6500_CDS_SIZES=NM_025058.4:2280,NM_001256601.1:2241,NM_001256600.1:2154,NM_001256599.1:2211;ESP6500_CG=-10.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=114;ESP6500_EA_AC=3060,5540;ESP6500_EA_AGE=470.6+/-367.9;ESP6500_EA_GTC=533,1994,1773;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025058.4:coding-synonymous,NM_001256601.1:coding-synonymous,NM_001256600.1:coding-synonymous,NM_001256599.1:coding-synonymous;ESP6500_GL=TRIM46;ESP6500_GRCh38_POSITION=1:155177242;ESP6500_GTC=702,2861,2940;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025058.4:c.861G>A,NM_001256601.1:c.822G>A,NM_001256600.1:c.822G>A,NM_001256599.1:c.792G>A;ESP6500_HGVS_PROTEIN_VAR=NM_025058.4:p.(T287),NM_001256601.1:p.(T274),NM_001256600.1:p.(T274),NM_001256599.1:p.(T264);ESP6500_MAF=35.5814,27.3491,32.7926;ESP6500_TAC=4265,8741	GT:AD:DP:GQ:PL	0/1:47,33:80:99:841,0,1254
chr1	155192276	rs4072037	C	T	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.423;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.277;SOR=0.423;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4072037;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204286.1|protein_coding|2/9|c.93G>A|p.Thr31Thr|165/1838|93/1455|31/484||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001018016.2|protein_coding|2/8|c.93G>A|p.Thr31Thr|165/1178|93/795|31/264||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001018017.2|protein_coding|2/8|c.66G>A|p.Thr22Thr|138/1151|66/768|22/255||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001044390.2|protein_coding|2/7|c.66G>A|p.Thr22Thr|138/995|66/612|22/203||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001044391.2|protein_coding|2/5|c.66G>A|p.Thr22Thr|138/836|66/453|22/150||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001044392.2|protein_coding|2/5|c.93G>A|p.Thr31Thr|165/863|93/480|31/159||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001044393.2|protein_coding|2/7|c.66G>A|p.Thr22Thr|138/963|66/477|22/158||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204285.1|protein_coding|2/9|c.66G>A|p.Thr22Thr|138/1811|66/1428|22/475||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204287.1|protein_coding|2/8|c.93G>A|p.Thr31Thr|165/1232|93/849|31/282||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204288.1|protein_coding|2/8|c.93G>A|p.Thr31Thr|165/1146|93/660|31/219||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204289.1|protein_coding|2/7|c.93G>A|p.Thr31Thr|165/1100|93/717|31/238||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204291.1|protein_coding|2/7|c.93G>A|p.Thr31Thr|165/1109|93/726|31/241||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204292.1|protein_coding|2/7|c.93G>A|p.Thr31Thr|165/1103|93/720|31/239||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204293.1|protein_coding|2/7|c.66G>A|p.Thr22Thr|138/1083|66/597|22/198||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204294.1|protein_coding|2/7|c.66G>A|p.Thr22Thr|138/1076|66/693|22/230||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204295.1|protein_coding|2/6|c.93G>A|p.Thr31Thr|165/953|93/570|31/189||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204296.1|protein_coding|2/7|c.93G>A|p.Thr31Thr|165/1022|93/639|31/212||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_001204297.1|protein_coding|2/5|c.93G>A|p.Thr31Thr|165/917|93/534|31/177||,T|synonymous_variant|LOW|MUC1|MUC1|transcript|NM_002456.5|protein_coding|2/8|c.66G>A|p.Thr22Thr|138/1205|66/822|22/273||,T|upstream_gene_variant|MODIFIER|MIR92B|MIR92B|transcript|NR_030281.1|pseudogene||n.-2901C>T|||||2901|,T|downstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_007112.4|protein_coding||c.*3565G>A|||||3312|,T|downstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_001252607.1|protein_coding||c.*3565G>A|||||3312|,T|downstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_001252608.1|protein_coding||c.*3565G>A|||||3312|,T|downstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NR_045553.1|pseudogene||n.*3312G>A|||||3312|,T|intron_variant|MODIFIER|MUC1|MUC1|transcript|NM_001204290.1|protein_coding|1/6|c.59-29G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3149;p3_1000G_AF=0.628794;p3_1000G_AFR_AF=0.6044;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=16591;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.5477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155162067;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2839,1567;ESP6500_AA_AGE=489.7+/-361.6;ESP6500_AA_GTC=910,1019,274;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20700443,20729852;ESP6500_CDS_SIZES=NM_002456.5:822,NM_001204297.1:534,NM_001204296.1:639,NM_001204295.1:570,NM_001204294.1:693,NM_001204293.1:597,NM_001204292.1:720,NM_001204291.1:726,NM_001204290.1:654,NM_001204289.1:717,NM_001204288.1:660,NM_001204287.1:849,NM_001204286.1:1455,NM_001204285.1:1428,NM_001044393.2:477,NM_001044392.2:480,NM_001044391.2:453,NM_001044390.2:612,NM_001018017.2:768,NM_001018016.2:795;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=124;ESP6500_EA_AC=4605,3995;ESP6500_EA_AGE=552.3+/-386.1;ESP6500_EA_GTC=1231,2143,926;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002456.5:coding-synonymous,NM_001204297.1:coding-synonymous,NM_001204296.1:coding-synonymous,NM_001204295.1:coding-synonymous,NM_001204294.1:coding-synonymous,NM_001204293.1:coding-synonymous,NM_001204292.1:coding-synonymous,NM_001204291.1:coding-synonymous,NM_001204290.1:intron,NM_001204289.1:coding-synonymous,NM_001204288.1:coding-synonymous,NM_001204287.1:coding-synonymous,NM_001204286.1:coding-synonymous,NM_001204285.1:coding-synonymous,NM_001044393.2:coding-synonymous,NM_001044392.2:coding-synonymous,NM_001044391.2:coding-synonymous,NM_001044390.2:coding-synonymous,NM_001018017.2:coding-synonymous,NM_001018016.2:coding-synonymous;ESP6500_GL=MUC1;ESP6500_GRCh38_POSITION=1:155192276;ESP6500_GTC=2141,3162,1200;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20700443,20729852;ESP6500_HGVS_CDNA_VAR=NM_002456.5:c.66G>A,NM_001204297.1:c.93G>A,NM_001204296.1:c.93G>A,NM_001204295.1:c.93G>A,NM_001204294.1:c.66G>A,NM_001204293.1:c.66G>A,NM_001204292.1:c.93G>A,NM_001204291.1:c.93G>A,NM_001204290.1:c.59-29G>A,NM_001204289.1:c.93G>A,NM_001204288.1:c.93G>A,NM_001204287.1:c.93G>A,NM_001204286.1:c.93G>A,NM_001204285.1:c.66G>A,NM_001044393.2:c.66G>A,NM_001044392.2:c.93G>A,NM_001044391.2:c.66G>A,NM_001044390.2:c.66G>A,NM_001018017.2:c.66G>A,NM_001018016.2:c.93G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002456.5:p.(T22),NM_001204297.1:p.(T31),NM_001204296.1:p.(T31),NM_001204295.1:p.(T31),NM_001204294.1:p.(T22),NM_001204293.1:p.(T22),NM_001204292.1:p.(T31),NM_001204291.1:p.(T31),.,NM_001204289.1:p.(T31),NM_001204288.1:p.(T31),NM_001204287.1:p.(T31),NM_001204286.1:p.(T31),NM_001204285.1:p.(T22),NM_001044393.2:p.(T22),NM_001044392.2:p.(T31),NM_001044391.2:p.(T22),NM_001044390.2:p.(T22),NM_001018017.2:p.(T22),NM_001018016.2:p.(T31);ESP6500_MAF=46.4535,35.5651,42.7649;ESP6500_TAC=7444,5562	GT:AD:DP:GQ:PL	0/1:17,16:33:99:360,0,422
chr1	155208991	rs760077;rs776070150	T	A	311.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.649;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=1.23;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144,86;ANN=A|missense_variant|MODERATE|MTX1|MTX1|transcript|NM_002455.4|protein_coding|1/8|c.187T>A|p.Ser63Thr|293/1648|187/1401|63/466||,A|missense_variant|MODERATE|MTX1|MTX1|transcript|NM_198883.3|protein_coding|1/7|c.187T>A|p.Ser63Thr|293/1555|187/1308|63/435||,A|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_007112.4|protein_coding||c.-1115A>T|||||1010|,A|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_001252607.1|protein_coding||c.-1115A>T|||||1010|,A|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_001252608.1|protein_coding||c.-1115A>T|||||1010|,A|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NR_045553.1|pseudogene||n.-1010A>T|||||1010|,A|downstream_gene_variant|MODIFIER|GBAP1|GBAP1|transcript|NR_002188.3|pseudogene||n.*4834A>T|||||4834|;p3_1000G_AA=T|||;p3_1000G_AC=1669;p3_1000G_AF=0.333267;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.23919999999999997;p3_1000G_AN=5008;p3_1000G_DP=8727;p3_1000G_EAS_AF=0.22619999999999996;p3_1000G_EUR_AF=0.39459999999999995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=155178782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.40180000000000005;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,12:22:99:0|1:155208991_T_A:340,0,271
chr1	155212052	rs2974935	G	T	273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.166;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.91;MQRankSum=0.978;QD=11.41;ReadPosRankSum=-1.112;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2974935;dbSNPBuildID=101;ANN=T|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_007112.4|protein_coding||c.-4176C>A|||||4071|,T|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_001252607.1|protein_coding||c.-4176C>A|||||4071|,T|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_001252608.1|protein_coding||c.-4176C>A|||||4071|,T|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NR_045553.1|pseudogene||n.-4071C>A|||||4071|,T|downstream_gene_variant|MODIFIER|GBAP1|GBAP1|transcript|NR_002188.3|pseudogene||n.*1773C>A|||||1773|,T|intron_variant|MODIFIER|MTX1|MTX1|transcript|NM_002455.4|protein_coding|3/7|c.679-75G>T||||||,T|intron_variant|MODIFIER|MTX1|MTX1|transcript|NM_198883.3|protein_coding|3/6|c.679-333G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3112;p3_1000G_AF=0.621406;p3_1000G_AFR_AF=0.6112;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=18889;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155181843;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,12:24:99:302,0,368
chr1	155212373	rs2075570	C	T	658.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.083;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.63;MQRankSum=-0.867;QD=9.55;ReadPosRankSum=-1.739;SOR=0.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075570;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_007112.4|protein_coding||c.-4497G>A|||||4392|,T|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_001252607.1|protein_coding||c.-4497G>A|||||4392|,T|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NM_001252608.1|protein_coding||c.-4497G>A|||||4392|,T|upstream_gene_variant|MODIFIER|THBS3|THBS3|transcript|NR_045553.1|pseudogene||n.-4392G>A|||||4392|,T|downstream_gene_variant|MODIFIER|GBAP1|GBAP1|transcript|NR_002188.3|pseudogene||n.*1452G>A|||||1452|,T|intron_variant|MODIFIER|MTX1|MTX1|transcript|NM_002455.4|protein_coding|4/7|c.772-12C>T||||||,T|intron_variant|MODIFIER|MTX1|MTX1|transcript|NM_198883.3|protein_coding|3/6|c.679-12C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=3118;p3_1000G_AF=0.622604;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=20925;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.5249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155182164;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2818,1588;ESP6500_AA_GTC=895,1028,280;ESP6500_CDS_SIZES=NM_198883.2:1308,NM_002455.3:1401;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=78;ESP6500_EA_AC=4365,4235;ESP6500_EA_GTC=1107,2151,1042;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198883.2:intron,NM_002455.3:intron;ESP6500_GL=MTX1;ESP6500_GRCh38_POSITION=1:155212373;ESP6500_GTC=2002,3179,1322;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198883.2:c.679-12C>T,NM_002455.3:c.772-12C>T;ESP6500_MAF=49.2442,36.0418,44.7716;ESP6500_TAC=7183,5823	GT:AD:DP:GQ:PL	0/1:38,31:69:99:687,0,1106
chr1	155214576	rs421050	C	G	2423.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.09;QD=28.51;SOR=0.716;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=80;ANN=G|downstream_gene_variant|MODIFIER|MTX1|MTX1|transcript|NM_002455.4|protein_coding||c.*878C>G|||||737|,G|downstream_gene_variant|MODIFIER|MTX1|MTX1|transcript|NM_198883.3|protein_coding||c.*878C>G|||||737|,G|non_coding_transcript_exon_variant|MODIFIER|GBAP1|GBAP1|transcript|NR_002188.3|pseudogene|12/13|n.1379G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4945;p3_1000G_AF=0.9874201;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19130;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=155184367;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2452,255,0
chr1	155214590	rs200207887	C	G	2439.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.55;QD=28.7;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=137;ANN=G|downstream_gene_variant|MODIFIER|MTX1|MTX1|transcript|NM_002455.4|protein_coding||c.*892C>G|||||751|,G|downstream_gene_variant|MODIFIER|MTX1|MTX1|transcript|NM_198883.3|protein_coding||c.*892C>G|||||751|,G|non_coding_transcript_exon_variant|MODIFIER|GBAP1|GBAP1|transcript|NR_002188.3|pseudogene|12/13|n.1365G>C||||||	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2468,255,0
chr1	155232898	rs10796940	A	C	484.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=13.594;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.629;SOR=1.139;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10796940;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_000157.3|protein_coding||c.*2097T>G|||||1550|,C|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001171812.1|protein_coding||c.*2097T>G|||||1550|,C|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding||c.*2097T>G|||||1550|,C|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding||c.*2097T>G|||||1550|,C|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding||c.*2097T>G|||||1550|,C|intergenic_region|MODIFIER|GBAP1-GBA|GBAP1-GBA|intergenic_region|GBAP1-GBA|||n.155232898A>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2352;p3_1000G_AF=0.469649;p3_1000G_AFR_AF=0.5461;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=18416;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.335;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155202689;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,17:35:99:513,0,513
chr1	155233269	rs11264344	G	A	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.021;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.951;MLEAC=1;MLEAF=0.5;MQ=58.69;MQRankSum=0.554;QD=17.03;ReadPosRankSum=-1.05;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56310840;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_000157.3|protein_coding||c.*1726C>T|||||1179|,A|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001171812.1|protein_coding||c.*1726C>T|||||1179|,A|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding||c.*1726C>T|||||1179|,A|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding||c.*1726C>T|||||1179|,A|downstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding||c.*1726C>T|||||1179|,A|intergenic_region|MODIFIER|GBAP1-GBA|GBAP1-GBA|intergenic_region|GBAP1-GBA|||n.155233269G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2347;p3_1000G_AF=0.46865;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs56310840;p3_1000G_DP=17268;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155203060;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,17:27:99:488,0,259
chr1	155235412	rs426516	G	A	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.771;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=42.58;MQRankSum=-3.195;QD=19.14;ReadPosRankSum=-1.05;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|GBA|GBA|transcript|NM_000157.3|protein_coding|9/10|c.1389-101C>T||||||,A|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171812.1|protein_coding|8/9|c.1242-101C>T||||||,A|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding|10/11|c.1389-101C>T||||||,A|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding|10/11|c.1389-101C>T||||||,A|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding|8/9|c.1128-101C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs534728931;p3_1000G_DP=17645;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155205203;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:99:277,0,131
chr1	155235878	rs3115534;256871	G	T	1525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.75;QD=33.17;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28559737;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_000157.3|protein_coding|8/10|c.1225-34C>A||||||,T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171812.1|protein_coding|7/9|c.1078-34C>A||||||,T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding|9/11|c.1225-34C>A||||||,T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding|9/11|c.1225-34C>A||||||,T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding|7/9|c.964-34C>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=4712;p3_1000G_AF=0.940895;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs28559737;p3_1000G_DP=20235;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155205669;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;CLINVAR_ALLELEID=249411;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.155235878G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GBA:2629|LOC106627981:106627981;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3115534	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1554,138,0
chr1	155236550	rs9628662	T	G	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=6.2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.542;SOR=2;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9628662;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|GBA|GBA|transcript|NM_000157.3|protein_coding|7/10|c.1000-81A>C||||||,G|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171812.1|protein_coding|6/9|c.853-81A>C||||||,G|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding|8/11|c.1000-81A>C||||||,G|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding|8/11|c.1000-81A>C||||||,G|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding|6/9|c.739-81A>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2339;p3_1000G_AF=0.467053;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18786;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.34;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155206341;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,14:31:99:422,0,441
chr1	155239569	rs2075569;256873	C	T	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.29;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075569;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_000157.3|protein_coding|4/10|c.454+47G>A||||||,T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171812.1|protein_coding|3/9|c.307+317G>A||||||,T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding|5/11|c.454+47G>A||||||,T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding|5/11|c.454+47G>A||||||,T|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding|3/9|c.193+47G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2454;p3_1000G_AF=0.490016;p3_1000G_AFR_AF=0.6195;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=19641;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155209360;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2662,1744;ESP6500_AA_GTC=803,1056,344;ESP6500_CDS_SIZES=NM_001171812.1:1464,NM_001171811.1:1350,NM_001005742.2:1611,NM_001005741.2:1611,NM_000157.3:1611;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=29;ESP6500_EA_AC=2568,6032;ESP6500_EA_GTC=404,1760,2136;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001171812.1:intron,NM_001171811.1:intron,NM_001005742.2:intron,NM_001005741.2:intron,NM_000157.3:intron;ESP6500_GL=GBA;ESP6500_GRCh38_POSITION=1:155239569;ESP6500_GTC=1207,2816,2480;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001171812.1:c.307+317G>A,NM_001171811.1:c.193+47G>A,NM_001005742.2:c.454+47G>A,NM_001005741.2:c.454+47G>A,NM_000157.3:c.454+47G>A;ESP6500_MAF=29.8605,39.5824,40.2122;ESP6500_TAC=5230,7776;CLINVAR_AF_ESP=0.4021;CLINVAR_AF_EXAC=0.36632;CLINVAR_AF_TGP=0.4900;CLINVAR_ALLELEID=249414;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.155239569C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GBA:2629|LOC106627981:106627981;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2075569	GT:AD:DP:GQ:PL	0/1:5,7:12:99:199,0,171
chr1	155240850	rs2070679	A	C	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=58.35;MQRankSum=0.904;QD=11.55;ReadPosRankSum=-0.499;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2070679;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|GBA|GBA|transcript|NM_000157.3|protein_coding|1/10|c.28-133T>G||||||,C|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171812.1|protein_coding|1/9|c.28-133T>G||||||,C|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding|2/11|c.28-133T>G||||||,C|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding|2/11|c.28-133T>G||||||,C|intron_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding|1/9|c.-146-773T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=154;p3_1000G_AF=0.0307508;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=18875;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155210641;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:213,0,267
chr1	155248377	rs2075568	T	C	1486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=1.693;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.069;SOR=0.97;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075568;dbSNPBuildID=96;ANN=C|upstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding||c.-7265A>G|||||3515|,C|upstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding||c.-7265A>G|||||3515|,C|upstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding||c.-8446A>G|||||3515|,C|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_006589.2|protein_coding|10/11|c.1579+28A>G||||||,C|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_001267608.1|protein_coding|9/10|c.1525+28A>G||||||,C|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_198264.1|protein_coding|7/8|c.1291+28A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2339;p3_1000G_AF=0.467053;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=19714;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155218168;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2611,1795;ESP6500_AA_AGE=528.4+/-372.4;ESP6500_AA_GTC=774,1063,366;ESP6500_CDS_SIZES=NM_198264.1:1719,NM_006589.2:2007,NM_001267608.1:1953;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=76;ESP6500_EA_AC=2154,6446;ESP6500_EA_AGE=712.7+/-405.9;ESP6500_EA_GTC=280,1594,2426;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198264.1:intron,NM_006589.2:intron,NM_001267608.1:intron;ESP6500_GL=FAM189B;ESP6500_GRCh38_POSITION=1:155248377;ESP6500_GTC=1054,2657,2792;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198264.1:c.1291+28A>G,NM_006589.2:c.1579+28A>G,NM_001267608.1:c.1525+28A>G;ESP6500_MAF=25.0465,40.7399,36.6369;ESP6500_TAC=4765,8241	GT:AD:DP:GQ:PL	0/1:40,55:95:99:1515,0,1023
chr1	155248574	rs734073	T	C	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.21;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=-0.524;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs734073;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001005741.2|protein_coding||c.-7462A>G|||||3712|,C|upstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001005742.2|protein_coding||c.-7462A>G|||||3712|,C|upstream_gene_variant|MODIFIER|GBA|GBA|transcript|NM_001171811.1|protein_coding||c.-8643A>G|||||3712|,C|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_006589.2|protein_coding|9/11|c.1511-101A>G||||||,C|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_001267608.1|protein_coding|8/10|c.1457-101A>G||||||,C|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_198264.1|protein_coding|6/8|c.1223-101A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1857;p3_1000G_AF=0.370807;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=17870;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.2684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155218365;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:283,0,270
chr1	155252046	rs2072647	C	A	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.867;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=0.847;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072647;dbSNPBuildID=96;ANN=A|downstream_gene_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_005698.3|protein_coding||c.*4227G>T|||||3933|,A|downstream_gene_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_052837.2|protein_coding||c.*4227G>T|||||3933|,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_006589.2|protein_coding|5/11|c.622-141G>T||||||,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_001267608.1|protein_coding|4/10|c.565-138G>T||||||,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_198264.1|protein_coding|2/8|c.334-141G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2329;p3_1000G_AF=0.465056;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=13882;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155221837;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,9:21:99:218,0,336
chr1	155254300	rs2075566	C	A	704.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.396;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-0.683;SOR=0.713;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075566;dbSNPBuildID=96;ANN=A|downstream_gene_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_005698.3|protein_coding||c.*1973G>T|||||1679|,A|downstream_gene_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_052837.2|protein_coding||c.*1973G>T|||||1679|,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_006589.2|protein_coding|2/11|c.282+100G>T||||||,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_001267608.1|protein_coding|1/10|c.226-106G>T||||||,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_198264.1|protein_coding|1/8|c.225+353G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2344;p3_1000G_AF=0.468051;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=19976;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155224091;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,25:47:99:733,0,696
chr1	155254510	rs2242577	C	A	600.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.47;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.609;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242577;dbSNPBuildID=98;ANN=A|downstream_gene_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_005698.3|protein_coding||c.*1763G>T|||||1469|,A|downstream_gene_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_052837.2|protein_coding||c.*1763G>T|||||1469|,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_006589.2|protein_coding|1/11|c.226-54G>T||||||,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_001267608.1|protein_coding|1/10|c.225+143G>T||||||,A|intron_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_198264.1|protein_coding|1/8|c.225+143G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2346;p3_1000G_AF=0.46845;p3_1000G_AFR_AF=0.6248;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=20565;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.2684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155224301;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=848,536;ESP6500_AA_GTC=259,330,103;ESP6500_CDS_SIZES=NM_198264.1:1719,NM_006589.2:2007,NM_001267608.1:1953;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=36;ESP6500_EA_AC=791,2391;ESP6500_EA_GTC=91,609,891;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198264.1:intron,NM_006589.2:intron,NM_001267608.1:intron;ESP6500_GL=FAM189B;ESP6500_GRCh38_POSITION=1:155254510;ESP6500_GTC=350,939,994;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_198264.1:c.225+143G>T,NM_006589.2:c.226-54G>T,NM_001267608.1:c.225+143G>T;ESP6500_MAF=24.8586,38.7283,35.8958;ESP6500_TAC=1639,2927	GT:AD:DP:GQ:PL	0/1:25,25:50:99:629,0,683
chr1	155260340	rs1142287	C	T	1420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.741;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.308;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1142287;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|SCAMP3|SCAMP3|transcript|NM_005698.3|protein_coding|4/9|c.378G>A|p.Gly126Gly|612/1572|378/1044|126/347||,T|synonymous_variant|LOW|SCAMP3|SCAMP3|transcript|NM_052837.2|protein_coding|3/8|c.300G>A|p.Gly100Gly|534/1494|300/966|100/321||,T|upstream_gene_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_006589.2|protein_coding||c.-5463G>A|||||4857|,T|upstream_gene_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_001267608.1|protein_coding||c.-5463G>A|||||4857|,T|upstream_gene_variant|MODIFIER|FAM189B|FAM189B|transcript|NM_198264.1|protein_coding||c.-5463G>A|||||4857|,T|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_001294338.1|protein_coding||c.*2878G>A|||||2528|,T|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_001294339.1|protein_coding||c.*2878G>A|||||2528|,T|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_003993.3|protein_coding||c.*2878G>A|||||2528|;p3_1000G_AA=C|||;p3_1000G_AC=2263;p3_1000G_AF=0.451877;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=20022;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.2753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155230131;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2359,2047;ESP6500_AA_GTC=635,1089,479;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21102463;ESP6500_CDS_SIZES=NM_052837.2:966,NM_005698.3:1044;ESP6500_CG=-1.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=85;ESP6500_EA_AC=2253,6347;ESP6500_EA_GTC=306,1641,2353;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052837.2:coding-synonymous,NM_005698.3:coding-synonymous;ESP6500_GL=SCAMP3;ESP6500_GRCh38_POSITION=1:155260340;ESP6500_GTC=941,2730,2832;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21102463;ESP6500_HGVS_CDNA_VAR=NM_052837.2:c.300G>A,NM_005698.3:c.378G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052837.2:p.(G100),NM_005698.3:p.(G126);ESP6500_MAF=26.1977,46.4594,35.4606;ESP6500_TAC=4612,8394	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1449,0,1239
chr1	155261754	rs2242576	T	G	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.99;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.319;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242576;dbSNPBuildID=98;ANN=G|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_001294338.1|protein_coding||c.*1464A>C|||||1114|,G|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_001294339.1|protein_coding||c.*1464A>C|||||1114|,G|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_003993.3|protein_coding||c.*1464A>C|||||1114|,G|intron_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_005698.3|protein_coding|1/8|c.67-20A>C||||||,G|intron_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_052837.2|protein_coding|1/7|c.66+332A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2437;p3_1000G_AF=0.486621;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=17114;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.2753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155231545;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2814,1592;ESP6500_AA_GTC=905,1004,294;ESP6500_CDS_SIZES=NM_052837.2:966,NM_005698.3:1044;ESP6500_CG=3.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=48;ESP6500_EA_AC=2259,6341;ESP6500_EA_GTC=308,1643,2349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052837.2:intron,NM_005698.3:intron;ESP6500_GL=SCAMP3;ESP6500_GRCh38_POSITION=1:155261754;ESP6500_GTC=1213,2647,2643;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_052837.2:c.66+332A>C,NM_005698.3:c.67-20A>C;ESP6500_MAF=26.2674,36.1325,39.0051;ESP6500_TAC=5073,7933	GT:AD:DP:GQ:PL	0/1:34,10:44:99:220,0,971
chr1	155262283	rs1046188	C	T	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.637;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.22;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1046188;dbSNPBuildID=86;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SCAMP3|SCAMP3|transcript|NM_005698.3|protein_coding|1/9|c.-132G>A||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|SCAMP3|SCAMP3|transcript|NM_052837.2|protein_coding|1/8|c.-132G>A||||||,T|5_prime_UTR_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_005698.3|protein_coding|1/9|c.-132G>A|||||132|,T|5_prime_UTR_variant|MODIFIER|SCAMP3|SCAMP3|transcript|NM_052837.2|protein_coding|1/8|c.-132G>A|||||132|,T|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_001294338.1|protein_coding||c.*935G>A|||||585|,T|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_001294339.1|protein_coding||c.*935G>A|||||585|,T|downstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_003993.3|protein_coding||c.*935G>A|||||585|;p3_1000G_AA=C|||;p3_1000G_AC=2261;p3_1000G_AF=0.451478;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=16720;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.2753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155232074;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:298,0,210
chr1	155277916	rs12749306	G	T	240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.267;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=-0.612;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12749306;dbSNPBuildID=121;ANN=T|upstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_001294338.1|protein_coding||c.-6939C>A|||||4387|,T|upstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_001294339.1|protein_coding||c.-11034C>A|||||4387|,T|upstream_gene_variant|MODIFIER|CLK2|CLK2|transcript|NM_003993.3|protein_coding||c.-6939C>A|||||4387|,T|intron_variant|MODIFIER|HCN3|HCN3|transcript|NM_020897.2|protein_coding|1/7|c.278+48G>T||||||,T|intron_variant|MODIFIER|HCN3|HCN3|transcript|NR_073074.1|pseudogene|1/7|n.442+48G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1921;p3_1000G_AF=0.383586;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=11516;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.2813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155247707;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1301,2909;ESP6500_AA_GTC=214,873,1018;ESP6500_CDS_SIZES=NM_020897.1:2325;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=10;ESP6500_EA_AC=2147,6293;ESP6500_EA_GTC=285,1577,2358;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020897.1:intron;ESP6500_GL=HCN3;ESP6500_GRCh38_POSITION=1:155277916;ESP6500_GTC=499,2450,3376;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_020897.1:c.278+48G>T;ESP6500_MAF=25.4384,30.9026,27.2569;ESP6500_TAC=3448,9202	GT:AD:DP:GQ:PL	0/1:19,13:32:99:269,0,499
chr1	155286046	rs11264352	T	C	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=-0.469;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264352;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|PKLR|PKLR|transcript|NM_000298.5|protein_coding||c.*4526A>G|||||3247|,C|downstream_gene_variant|MODIFIER|PKLR|PKLR|transcript|NM_181871.3|protein_coding||c.*4526A>G|||||3247|,C|intron_variant|MODIFIER|HCN3|HCN3|transcript|NM_020897.2|protein_coding|6/7|c.1477+82T>C||||||,C|intron_variant|MODIFIER|HCN3|HCN3|transcript|NR_073074.1|pseudogene|6/7|n.1508+82T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2216;p3_1000G_AF=0.442492;p3_1000G_AFR_AF=0.4962;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=15784;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155255837;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:55:55,0,160
chr1	155287701	rs11264355	C	G	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.075;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.576;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.43;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264355;dbSNPBuildID=120;ANN=G|downstream_gene_variant|MODIFIER|PKLR|PKLR|transcript|NM_000298.5|protein_coding||c.*2871G>C|||||1592|,G|downstream_gene_variant|MODIFIER|PKLR|PKLR|transcript|NM_181871.3|protein_coding||c.*2871G>C|||||1592|,G|intron_variant|MODIFIER|HCN3|HCN3|transcript|NM_020897.2|protein_coding|7/7|c.1643-80C>G||||||,G|intron_variant|MODIFIER|HCN3|HCN3|transcript|NR_073074.1|pseudogene|7/7|n.1674-80C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2199;p3_1000G_AF=0.439097;p3_1000G_AFR_AF=0.4879;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=16063;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.2813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155257492;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3538;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,12:27:99:1|0:155287695_C_A:326,0,497
chr1	155290559	rs1052177;255797	A	G	689.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.016;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.929;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052177;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|PKLR|PKLR|transcript|NM_000298.5|protein_coding|11/11|c.*13T>C|||||13|,G|3_prime_UTR_variant|MODIFIER|PKLR|PKLR|transcript|NM_181871.3|protein_coding|11/11|c.*13T>C|||||13|,G|downstream_gene_variant|MODIFIER|HCN3|HCN3|transcript|NM_020897.2|protein_coding||c.*2096A>G|||||711|,G|downstream_gene_variant|MODIFIER|HCN3|HCN3|transcript|NR_073074.1|pseudogene||n.*1852A>G|||||1852|;p3_1000G_AA=A|||;p3_1000G_AC=2197;p3_1000G_AF=0.438698;p3_1000G_AFR_AF=0.4879;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=17633;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155260350;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP;ESP6500_AA_AC=1976,2430;ESP6500_AA_GTC=527,922,754;ESP6500_CDS_SIZES=NM_181871.3:1632,NM_000298.5:1725;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=48;ESP6500_EA_AC=2177,6423;ESP6500_EA_GTC=315,1547,2438;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181871.3:utr-3,NM_000298.5:utr-3;ESP6500_GL=PKLR;ESP6500_GRCh38_POSITION=1:155290559;ESP6500_GTC=842,2469,3192;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181871.3:c.*13T>C,NM_000298.5:c.*13T>C;ESP6500_MAF=25.314,44.8479,31.9314;ESP6500_TAC=4153,8853;CLINVAR_AF_ESP=0.3193;CLINVAR_AF_EXAC=0.33544;CLINVAR_AF_TGP=0.4387;CLINVAR_ALLELEID=249415;CLINVAR_CLNDISDB=MedGen:C0340968,OMIM:266200,Orphanet:ORPHA766|MedGen:CN169374;CLINVAR_CLNDN=Pyruvate_kinase_deficiency_of_red_cells|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.155290559A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2527;CLINVAR_GENEINFO=PKLR:5313;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1052177	GT:AD:DP:GQ:PL	0/1:31,29:60:99:718,0,840
chr1	155290592	rs1052176;255798	G	T	916.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=1.891;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-1.651;SOR=0.985;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052176;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PKLR|PKLR|transcript|NM_000298.5|protein_coding|11/11|c.1705C>A|p.Arg569Arg|1744/3043|1705/1725|569/574||,T|synonymous_variant|LOW|PKLR|PKLR|transcript|NM_181871.3|protein_coding|11/11|c.1612C>A|p.Arg538Arg|1726/3025|1612/1632|538/543||,T|downstream_gene_variant|MODIFIER|HCN3|HCN3|transcript|NM_020897.2|protein_coding||c.*2129G>T|||||744|,T|downstream_gene_variant|MODIFIER|HCN3|HCN3|transcript|NR_073074.1|pseudogene||n.*1885G>T|||||1885|;p3_1000G_AA=G|||;p3_1000G_AC=2196;p3_1000G_AF=0.438498;p3_1000G_AFR_AF=0.4879;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=16703;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.2803;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155260383;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP;ESP6500_AA_AC=2139,2267;ESP6500_AA_AGE=578.7+/-384.7;ESP6500_AA_GTC=529,1081,593;ESP6500_CDS_SIZES=NM_181871.3:1632,NM_000298.5:1725;ESP6500_CG=-0.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=64;ESP6500_EA_AC=2299,6301;ESP6500_EA_AGE=387.1+/-342.1;ESP6500_EA_GTC=315,1669,2316;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181871.3:coding-synonymous,NM_000298.5:coding-synonymous;ESP6500_GL=PKLR;ESP6500_GRCh38_POSITION=1:155290592;ESP6500_GTC=844,2750,2909;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_181871.3:c.1612C>A,NM_000298.5:c.1705C>A;ESP6500_HGVS_PROTEIN_VAR=NM_181871.3:p.(R538),NM_000298.5:p.(R569);ESP6500_MAF=26.7326,48.5474,34.1227;ESP6500_TAC=4438,8568;CLINVAR_AF_ESP=0.3412;CLINVAR_AF_EXAC=0.33320;CLINVAR_AF_TGP=0.4385;CLINVAR_ALLELEID=249416;CLINVAR_CLNDISDB=MedGen:C0340968,OMIM:266200,Orphanet:ORPHA766|MedGen:CN169374;CLINVAR_CLNDN=Pyruvate_kinase_deficiency_of_red_cells|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.155290592G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:26726|Illumina_Clinical_Services_Laboratory,Illumina:2543;CLINVAR_GENEINFO=PKLR:5313;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1052176	GT:AD:DP:GQ:PL	0/1:39,38:77:99:945,0,888
chr1	155291986	rs3762272	C	T	980.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.63;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0.814;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.399;SOR=0.578;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762272;dbSNPBuildID=107;ANN=T|downstream_gene_variant|MODIFIER|HCN3|HCN3|transcript|NM_020897.2|protein_coding||c.*3523C>T|||||2138|,T|downstream_gene_variant|MODIFIER|HCN3|HCN3|transcript|NR_073074.1|pseudogene||n.*3279C>T|||||3279|,T|intron_variant|MODIFIER|PKLR|PKLR|transcript|NM_000298.5|protein_coding|9/10|c.1437-49G>A||||||,T|intron_variant|MODIFIER|PKLR|PKLR|transcript|NM_181871.3|protein_coding|9/10|c.1344-49G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1068;p3_1000G_AF=0.213259;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=20320;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.0179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155261777;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=45,4361;ESP6500_AA_GTC=0,45,2158;ESP6500_CDS_SIZES=NM_181871.3:1632,NM_000298.5:1725;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=18;ESP6500_EA_AC=146,8452;ESP6500_EA_GTC=1,144,4154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181871.3:intron,NM_000298.5:intron;ESP6500_GL=PKLR;ESP6500_GRCh38_POSITION=1:155291986;ESP6500_GTC=1,189,6312;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181871.3:c.1344-49G>A,NM_000298.5:c.1437-49G>A;ESP6500_MAF=1.6981,1.0213,1.4688;ESP6500_TAC=191,12813	GT:AD:DP:GQ:PL	0/1:44,41:85:99:1009,0,1162
chr1	155295386	rs2071053	A	G	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=1.52;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2071053;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|PKLR|PKLR|transcript|NM_000298.5|protein_coding|4/10|c.507+51T>C||||||,G|intron_variant|MODIFIER|PKLR|PKLR|transcript|NM_181871.3|protein_coding|4/10|c.414+51T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2399;p3_1000G_AF=0.479034;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=14256;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.2833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155265177;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2481,1843;ESP6500_AA_GTC=757,967,438;ESP6500_CDS_SIZES=NM_181871.3:1632,NM_000298.5:1725;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=13;ESP6500_EA_AC=2215,6325;ESP6500_EA_GTC=331,1553,2386;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181871.3:intron,NM_000298.5:intron;ESP6500_GL=PKLR;ESP6500_GRCh38_POSITION=1:155295386;ESP6500_GTC=1088,2520,2824;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181871.3:c.414+51T>C,NM_000298.5:c.507+51T>C;ESP6500_MAF=25.9368,42.6226,36.505;ESP6500_TAC=4696,8168	GT:AD:DP:GQ:PL	0/1:21,12:33:99:305,0,549
chr1	155309691	rs2297480;225973	T	G	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.152;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.676;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297480;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135821.1|protein_coding|1/10|c.-1-98T>G||||||,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135822.1|protein_coding|1/9|c.-1-373T>G||||||,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242824.1|protein_coding|1/9|c.-22-352T>G||||||,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242825.1|protein_coding|1/8|c.-175+726T>G||||||,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_002004.3|protein_coding|1/10|c.-1-98T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18079;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155279482;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.3694;CLINVAR_ALLELEID=227741;CLINVAR_CLNDISDB=MedGen:CN236487;CLINVAR_CLNDN=Bisphosphonates_response_-_Efficacy;CLINVAR_CLNHGVS=NC_000001.11:g.155309691T>G;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=drug_response;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=PharmGKB_Clinical_Annotation:619523395|PharmGKB:619523395|PharmGKB:619523395PA164712563;CLINVAR_GENEINFO=FDPS:2224;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2297480	GT:AD:DP:GQ:PL	0/1:5,8:13:99:207,0,130
chr1	155310313	rs35556344;rs397860801;rs535494646	C	CT	136.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.554;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=1.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.095;SOR=0.473;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35556344;dbSNPBuildID=142,130,138;ANN=CT|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135821.1|protein_coding|3/10|c.339+123dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135822.1|protein_coding|2/9|c.141+123dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242824.1|protein_coding|2/9|c.141+123dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242825.1|protein_coding|1/8|c.-175+1363dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_002004.3|protein_coding|3/10|c.339+123dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1432;p3_1000G_AF=0.285942;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=16288;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155280104;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:22,12:34:99:174,0,476
chr1	155310373	rs11264358	T	C	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.21;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0.514;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264358;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135821.1|protein_coding|3/10|c.339+168T>C||||||,C|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135822.1|protein_coding|2/9|c.141+168T>C||||||,C|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242824.1|protein_coding|2/9|c.141+168T>C||||||,C|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242825.1|protein_coding|1/8|c.-175+1408T>C||||||,C|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_002004.3|protein_coding|3/10|c.339+168T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=13938;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155280164;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,16:31:99:467,0,389
chr1	155319754	rs11264361	T	G	1890.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=0.8;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11264361;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001105203.1|protein_coding||c.-2020T>G|||||1095|,G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001105204.1|protein_coding||c.-2020T>G|||||1095|,G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001105205.1|protein_coding||c.-4664T>G|||||4183|,G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278227.1|protein_coding||c.-5141T>G|||||4183|,G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278228.1|protein_coding||c.-5454T>G|||||4183|,G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278229.1|protein_coding||c.-5141T>G|||||4183|,G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_014328.4|protein_coding||c.-5141T>G|||||4183|,G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278230.1|protein_coding||c.-5141T>G|||||4641|,G|upstream_gene_variant|MODIFIER|RUSC1|RUSC1|transcript|NR_103478.1|pseudogene||n.-4641T>G|||||4641|,G|downstream_gene_variant|MODIFIER|RUSC1-AS1|RUSC1-AS1|transcript|NM_001039517.1|protein_coding||c.*1024A>C|||||706|,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135821.1|protein_coding|9/10|c.925-40T>G||||||,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135822.1|protein_coding|8/9|c.727-40T>G||||||,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242824.1|protein_coding|8/9|c.727-40T>G||||||,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242825.1|protein_coding|7/8|c.412-40T>G||||||,G|intron_variant|MODIFIER|FDPS|FDPS|transcript|NM_002004.3|protein_coding|9/10|c.925-40T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1764;p3_1000G_AF=0.352236;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=19507;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.2644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155289545;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1034,3372;ESP6500_AA_AGE=383.2+/-324.8;ESP6500_AA_GTC=130,774,1299;ESP6500_CDS_SIZES=NM_002004.3:1260,NM_001242825.1:747,NM_001242824.1:1062,NM_001135822.1:1062,NM_001135821.1:1260;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=122;ESP6500_EA_AC=2218,6382;ESP6500_EA_AGE=378.3+/-338.9;ESP6500_EA_GTC=286,1646,2368;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002004.3:intron,NM_001242825.1:intron,NM_001242824.1:intron,NM_001135822.1:intron,NM_001135821.1:intron;ESP6500_GL=FDPS;ESP6500_GRCh38_POSITION=1:155319754;ESP6500_GTC=416,2420,3667;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_002004.3:c.925-40T>G,NM_001242825.1:c.412-40T>G,NM_001242824.1:c.727-40T>G,NM_001135822.1:c.727-40T>G,NM_001135821.1:c.925-40T>G;ESP6500_MAF=25.7907,23.468,25.0038;ESP6500_TAC=3252,9754	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,57:57:99:1|1:155319754_T_G:1919,171,0
chr1	155324483	rs914616	A	G	1786.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.35;SOR=1.238;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs914616;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|RUSC1|RUSC1|transcript|NM_001105205.1|protein_coding|1/9|c.66A>G|p.Leu22Leu|547/2507|66/1479|22/492||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RUSC1|RUSC1|transcript|NM_001278227.1|protein_coding|1/9|c.-155A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RUSC1|RUSC1|transcript|NM_001278228.1|protein_coding|1/8|c.-310A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RUSC1|RUSC1|transcript|NM_001278229.1|protein_coding|1/9|c.-155A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RUSC1|RUSC1|transcript|NM_014328.4|protein_coding|1/9|c.-155A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|RUSC1|RUSC1|transcript|NM_001278230.1|protein_coding|1/8|c.-412A>G||||||,G|5_prime_UTR_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278227.1|protein_coding|1/9|c.-155A>G|||||412|,G|5_prime_UTR_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278228.1|protein_coding|1/8|c.-310A>G|||||725|,G|5_prime_UTR_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278229.1|protein_coding|1/9|c.-155A>G|||||412|,G|5_prime_UTR_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_014328.4|protein_coding|1/9|c.-155A>G|||||412|,G|5_prime_UTR_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278230.1|protein_coding|1/8|c.-412A>G|||||412|,G|upstream_gene_variant|MODIFIER|RUSC1-AS1|RUSC1-AS1|transcript|NM_001039517.1|protein_coding||c.-2995T>C|||||336|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135821.1|protein_coding||c.*3874A>G|||||3817|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135822.1|protein_coding||c.*3874A>G|||||3817|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242824.1|protein_coding||c.*3874A>G|||||3817|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242825.1|protein_coding||c.*3874A>G|||||3817|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_002004.3|protein_coding||c.*3874A>G|||||3817|,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001105203.1|protein_coding|2/9|c.1358-362A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001105204.1|protein_coding|2/9|c.1358-362A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|RUSC1|RUSC1|transcript|NR_103478.1|pseudogene|1/8|n.89A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4749;p3_1000G_AF=0.948283;p3_1000G_AFR_AF=0.8132;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=13823;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155294274;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3165,499;ESP6500_AA_GTC=1360,445,27;ESP6500_CDS_SIZES=NM_014328.3:1302,NM_001105205.1:1479,NM_001105204.1:2391,NM_001105203.1:2709;ESP6500_CG=4.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=16;ESP6500_EA_AC=8024,6;ESP6500_EA_GTC=4009,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014328.3:utr-5,NM_001105205.1:coding-synonymous,NM_001105204.1:intron,NM_001105203.1:intron;ESP6500_GL=RUSC1;ESP6500_GRCh38_POSITION=1:155324483;ESP6500_GTC=5369,451,27;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014328.3:c.-412A>G,NM_001105205.1:c.66A>G,NM_001105204.1:c.1358-362A>G,NM_001105203.1:c.1358-362A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001105205.1:p.(L22),.,.;ESP6500_MAF=0.0747,13.619,4.3185;ESP6500_TAC=11189,505	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1815,171,0
chr1	155324981	rs4971075	A	G	1253.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.83;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4971075;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|RUSC1-AS1|RUSC1-AS1|transcript|NM_001039517.1|protein_coding||c.-3493T>C|||||834|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135821.1|protein_coding||c.*4372A>G|||||4315|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_001135822.1|protein_coding||c.*4372A>G|||||4315|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242824.1|protein_coding||c.*4372A>G|||||4315|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_001242825.1|protein_coding||c.*4372A>G|||||4315|,G|downstream_gene_variant|MODIFIER|FDPS|FDPS|transcript|NM_002004.3|protein_coding||c.*4372A>G|||||4315|,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001105203.1|protein_coding|3/9|c.1456+38A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001105204.1|protein_coding|3/9|c.1456+38A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001105205.1|protein_coding|2/8|c.226+38A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278227.1|protein_coding|2/8|c.49+38A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278228.1|protein_coding|2/7|c.-107+38A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278229.1|protein_coding|2/8|c.49+38A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_014328.4|protein_coding|2/8|c.49+38A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NM_001278230.1|protein_coding|1/7|c.49+38A>G||||||,G|intron_variant|MODIFIER|RUSC1|RUSC1|transcript|NR_103478.1|pseudogene|1/7|n.416-121A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4584;p3_1000G_AF=0.915335;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=14452;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155294772;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3515,891;ESP6500_AA_AGE=344.9+/-308.3;ESP6500_AA_GTC=1384,747,72;ESP6500_CDS_SIZES=NM_014328.3:1302,NM_001105205.1:1479,NM_001105204.1:2391,NM_001105203.1:2709;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=61;ESP6500_EA_AC=8594,6;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4294,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014328.3:intron,NM_001105205.1:intron,NM_001105204.1:intron,NM_001105203.1:intron;ESP6500_GL=RUSC1;ESP6500_GRCh38_POSITION=1:155324981;ESP6500_GTC=5678,753,72;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014328.3:c.49+38A>G,NM_001105205.1:c.226+38A>G,NM_001105204.1:c.1456+38A>G,NM_001105203.1:c.1456+38A>G;ESP6500_MAF=0.0698,20.2224,6.8968;ESP6500_TAC=12109,897	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1282,108,0
chr1	155341882	rs137884363	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.517;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.282;SOR=0.041;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs137884363;dbSNPBuildID=134;ANN=G|downstream_gene_variant|MODIFIER|MIR555|MIR555|transcript|NR_030282.1|pseudogene||n.*4468T>C|||||4468|,G|intron_variant|MODIFIER|ASH1L|ASH1L|transcript|NM_018489.2|protein_coding|25/27|c.8460+54T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20738;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155311673;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:255,0,285
chr1	155343256	rs4971051	T	C	996.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=2.753;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4971051;dbSNPBuildID=111;ANN=C|downstream_gene_variant|MODIFIER|MIR555|MIR555|transcript|NR_030282.1|pseudogene||n.*3094A>G|||||3094|,C|intron_variant|MODIFIER|ASH1L|ASH1L|transcript|NM_018489.2|protein_coding|24/27|c.8293+58A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4586;p3_1000G_AF=0.915735;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=19628;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155313047;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:1025,81,0
chr1	155360446	rs774916785	AT	A	10.17	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=-1.759;SOR=0.784;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|ASH1L|ASH1L|transcript|NM_018489.2|protein_coding|12/27|c.6687-38delA||||||	GT:AD:DP:GQ:PL	0/1:15,4:19:47:47,0,312
chr1	155378569	rs201906485	T	A	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.21;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201906485;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|ASH1L|ASH1L|transcript|NM_018489.2|protein_coding|8/27|c.6178-21A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18735;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155348360;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:118,0,170
chr1	155438844	rs4971053	T	C	1990.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=0.966;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4971053;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|ASH1L|ASH1L|transcript|NM_018489.2|protein_coding|5/28|c.5311A>G|p.Thr1771Ala|5791/11774|5311/8895|1771/2964||,C|downstream_gene_variant|MODIFIER|POU5F1P4|POU5F1P4|transcript|NR_034180.1|pseudogene||n.*4582T>C|||||4582|;p3_1000G_AA=C|||;p3_1000G_AC=4751;p3_1000G_AF=0.948682;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=18883;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155408635;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3787,619;ESP6500_AA_AGE=269.2+/-268.9;ESP6500_AA_GTC=1621,545,37;ESP6500_CDS_SIZES=NM_018489.2:8895;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=90;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018489.2:missense;ESP6500_GL=ASH1L;ESP6500_GRCh38_POSITION=1:155438844;ESP6500_GS=58;ESP6500_GTC=5917,549,37;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018489.2:c.5311A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018489.2:p.(T1771A);ESP6500_MAF=0.0465,14.049,4.7901;ESP6500_PH=benign:0.0;ESP6500_TAC=12383,623	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2019,192,0
chr1	155459699	rs10796946	A	T	318.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10796946;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ASH1L|ASH1L|transcript|NM_018489.2|protein_coding|4/27|c.5086+98T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=17768;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155429490;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:347,30,0
chr1	155459934	rs10908466	A	C	422.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10908466;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ASH1L|ASH1L|transcript|NM_018489.2|protein_coding|3/27|c.4985-36T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=16635;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155429725;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=762,3642;ESP6500_AA_AGE=283.4+/-277.1;ESP6500_AA_GTC=72,618,1512;ESP6500_CDS_SIZES=NM_018489.2:8895;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=2347,6251;ESP6500_EA_AGE=361.8+/-332.5;ESP6500_EA_GTC=323,1701,2275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018489.2:intron;ESP6500_GL=ASH1L;ESP6500_GRCh38_POSITION=1:155459934;ESP6500_GTC=395,2319,3787;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_018489.2:c.4985-36T>G;ESP6500_MAF=27.297,17.3025,23.9117;ESP6500_TAC=3109,9893	GT:AD:DP:GQ:PL	1/1:0,13:13:38:451,38,0
chr1	155611520	rs71628674	T	C	609.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.46;QD=27.72;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs141265144;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_018116.3|protein_coding|4/13|c.367-29T>C||||||,C|intron_variant|MODIFIER|MSTO2P|MSTO2P|transcript|NR_024117.2|pseudogene|4/12|n.492-29T>C||||||,C|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_001256532.1|protein_coding|4/13|c.367-29T>C||||||,C|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_001256533.1|protein_coding|4/13|c.367-29T>C||||||,C|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046293.1|pseudogene|4/13|n.510-29T>C||||||,C|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046294.1|pseudogene|3/11|n.538-220T>C||||||,C|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046295.1|pseudogene|3/12|n.370-29T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046292.1|pseudogene|5/14|n.539T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1659;p3_1000G_AF=0.33127;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs141265144;p3_1000G_DP=19549;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.2734;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155581311;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:638,66,0
chr1	155611966	rs1200697	A	G	437.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.59;QD=31.27;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs145150302;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_018116.3|protein_coding|6/13|c.561-17A>G||||||,G|intron_variant|MODIFIER|MSTO2P|MSTO2P|transcript|NR_024117.2|pseudogene|6/12|n.686-17A>G||||||,G|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_001256532.1|protein_coding|6/13|c.561-17A>G||||||,G|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_001256533.1|protein_coding|6/13|c.561-17A>G||||||,G|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046292.1|pseudogene|6/13|n.762-17A>G||||||,G|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046293.1|pseudogene|6/13|n.704-17A>G||||||,G|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046294.1|pseudogene|4/11|n.626-17A>G||||||,G|intron_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046295.1|pseudogene|5/12|n.564-17A>G||||||	GT:AD:DP:GQ:PL	1/1:0,14:14:42:466,42,0
chr1	155614146	rs3844257	A	G	690.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.14;QD=27.12;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs147713038;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|MSTO1|MSTO1|transcript|NM_018116.3|protein_coding|14/14|c.1586A>G|p.Lys529Arg|1665/2486|1586/1713|529/570||,G|missense_variant|MODERATE|MSTO1|MSTO1|transcript|NM_001256532.1|protein_coding|14/14|c.1583A>G|p.Lys528Arg|1662/2483|1583/1710|528/569||,G|missense_variant|MODERATE|MSTO1|MSTO1|transcript|NM_001256533.1|protein_coding|14/14|c.1550A>G|p.Lys517Arg|1629/2450|1550/1677|517/558||,G|sequence_feature|MODERATE|MSTO1|MSTO1|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_018116.3|protein_coding|14/14|c.1586A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MSTO2P|MSTO2P|transcript|NR_024117.2|pseudogene|13/13|n.1554A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046292.1|pseudogene|14/14|n.1754A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046293.1|pseudogene|14/14|n.1696A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046294.1|pseudogene|12/12|n.1688A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046295.1|pseudogene|13/13|n.1589A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1730;p3_1000G_AF=0.345447;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs147713038;p3_1000G_DP=20499;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.2694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155583937;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:719,54,0
chr1	155614825	rs374309842	A	G	543.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.404;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.094;MLEAC=1;MLEAF=0.5;MQ=51.64;MQRankSum=-1.185;QD=11.1;ReadPosRankSum=0.759;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374309842;dbSNPBuildID=138;ANN=G|splice_region_variant&non_coding_transcript_exon_variant|LOW|MSTO2P|MSTO2P|transcript|NR_024117.2|pseudogene|13/13|n.2233A>G||||||,G|3_prime_UTR_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_018116.3|protein_coding|14/14|c.*552A>G|||||552|,G|3_prime_UTR_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_001256532.1|protein_coding|14/14|c.*552A>G|||||552|,G|3_prime_UTR_variant|MODIFIER|MSTO1|MSTO1|transcript|NM_001256533.1|protein_coding|14/14|c.*552A>G|||||552|,G|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046292.1|pseudogene|14/14|n.2433A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046293.1|pseudogene|14/14|n.2375A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046294.1|pseudogene|12/12|n.2367A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MSTO1|MSTO1|transcript|NR_046295.1|pseudogene|13/13|n.2268A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20231;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155584616;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,22:49:99:572,0,764
chr1	155629283	rs61812127	G	T	200.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.38;QD=28.69;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs137899903;dbSNPBuildID=129;ANN=T|intergenic_region|MODIFIER|MSTO1-YY1AP1|MSTO1-YY1AP1|intergenic_region|MSTO1-YY1AP1|||n.155629283G>T||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:229,21,0
chr1	155648624	rs397981621;rs398074323;rs5777949;rs748989074	CT	C	1970.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.27;QD=33.4;SOR=1.123;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5777949;dbSNPBuildID=134,144,138,138;ANN=C|intergenic_region|MODIFIER|MSTO1-YY1AP1|MSTO1-YY1AP1|intergenic_region|MSTO1-YY1AP1|||n.155648625delT||||||;p3_1000G_AA=TTT|TTTT|TTT|insertion;p3_1000G_AC=4550;p3_1000G_AF=0.908546;p3_1000G_AFR_AF=0.6649;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=15710;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155618415;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2008,177,0
chr1	155660961	rs3738590	A	G	2487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=1.673;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738590;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198903.1|protein_coding|9/9|c.1411-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198899.1|protein_coding|7/7|c.964-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198904.1|protein_coding|9/9|c.1351-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198902.1|protein_coding|9/9|c.997-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139119.2|protein_coding|10/10|c.997-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198900.1|protein_coding|9/9|c.964-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198905.1|protein_coding|10/10|c.937-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_018253.3|protein_coding|11/11|c.964-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139121.2|protein_coding|10/10|c.799-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198901.1|protein_coding|9/9|c.997-48T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198906.1|protein_coding|10/10|c.1195-28T>C||||||,G|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139118.2|protein_coding|10/10|c.1135-48T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1695;p3_1000G_AF=0.338458;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=18832;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155630752;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=679,3727;ESP6500_AA_GTC=88,503,1612;ESP6500_CDS_SIZES=NM_139121.2:2055,NM_139119.2:2253,NM_139118.2:2391,NM_018253.3:2220,NM_001198906.1:1275,NM_001198905.1:2193,NM_001198904.1:2607,NM_001198903.1:2667,NM_001198902.1:2253,NM_001198901.1:2253,NM_001198900.1:2220,NM_001198899.1:2220;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=36;ESP6500_EA_AC=2061,6539;ESP6500_EA_GTC=314,1433,2553;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139121.2:intron,NM_139119.2:intron,NM_139118.2:intron,NM_018253.3:intron,NM_001198906.1:intron,NM_001198905.1:intron,NM_001198904.1:intron,NM_001198903.1:intron,NM_001198902.1:intron,NM_001198901.1:intron,NM_001198900.1:intron,NM_001198899.1:intron;ESP6500_GL=YY1AP1;ESP6500_GRCh38_POSITION=1:155660961;ESP6500_GTC=402,1936,4165;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_139121.2:c.799-48T>C,NM_139119.2:c.997-48T>C,NM_139118.2:c.1135-48T>C,NM_018253.3:c.964-48T>C,NM_001198906.1:c.1195-28T>C,NM_001198905.1:c.937-48T>C,NM_001198904.1:c.1351-48T>C,NM_001198903.1:c.1411-48T>C,NM_001198902.1:c.997-48T>C,NM_001198901.1:c.997-48T>C,NM_001198900.1:c.964-48T>C,NM_001198899.1:c.964-48T>C;ESP6500_MAF=23.9651,15.4108,21.0672;ESP6500_TAC=2740,10266	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2516,225,0
chr1	155661516	rs1278927342	AACACACAC	A	518.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.09;QD=30.07;SOR=2.303;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198903.1|protein_coding|8/9|c.1294-101_1294-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198899.1|protein_coding|6/7|c.847-101_847-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198904.1|protein_coding|8/9|c.1234-101_1234-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198902.1|protein_coding|8/9|c.880-101_880-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139119.2|protein_coding|9/10|c.880-101_880-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198900.1|protein_coding|8/9|c.847-101_847-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198905.1|protein_coding|9/10|c.820-101_820-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_018253.3|protein_coding|10/11|c.847-101_847-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139121.2|protein_coding|9/10|c.682-101_682-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198901.1|protein_coding|8/9|c.880-101_880-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198906.1|protein_coding|9/10|c.1078-101_1078-94delGTGTGTGT||||||,A|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139118.2|protein_coding|9/10|c.1018-101_1018-94delGTGTGTGT||||||	GT:AD:DP:GQ:PL	1/0:0,9:9:99:556,203,224
chr1	155661516	.	AACACACAC	AACACACACACAC	518.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.09;QD=30.07;SOR=2.303;INS;HET;VARTYPE=INS;ANN=AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198903.1|protein_coding|8/9|c.1294-105_1294-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198899.1|protein_coding|6/7|c.847-105_847-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198904.1|protein_coding|8/9|c.1234-105_1234-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198902.1|protein_coding|8/9|c.880-105_880-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139119.2|protein_coding|9/10|c.880-105_880-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198900.1|protein_coding|8/9|c.847-105_847-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198905.1|protein_coding|9/10|c.820-105_820-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_018253.3|protein_coding|10/11|c.847-105_847-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139121.2|protein_coding|9/10|c.682-105_682-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198901.1|protein_coding|8/9|c.880-105_880-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198906.1|protein_coding|9/10|c.1078-105_1078-102dupGTGT||||||,AACACACACACAC|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139118.2|protein_coding|9/10|c.1018-105_1018-102dupGTGT||||||	GT:AD:DP:GQ:PL	0/1:0,5:5:99:556,355,340
chr1	155688294	rs2666826	T	C	609.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2666826;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|YY1AP1|YY1AP1|transcript|NM_001198903.1|protein_coding|1/10|c.171A>G|p.Glu57Glu|363/3074|171/2667|57/888||,C|synonymous_variant|LOW|YY1AP1|YY1AP1|transcript|NM_001198904.1|protein_coding|1/10|c.171A>G|p.Glu57Glu|363/3014|171/2607|57/868||,C|upstream_gene_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199849.1|protein_coding||c.-21486T>C|||||797|,C|upstream_gene_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199850.1|protein_coding||c.-21486T>C|||||797|,C|upstream_gene_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199851.1|protein_coding||c.-21486T>C|||||797|,C|upstream_gene_variant|MODIFIER|DAP3|DAP3|transcript|NM_004632.3|protein_coding||c.-21486T>C|||||800|,C|upstream_gene_variant|MODIFIER|DAP3|DAP3|transcript|NM_033657.2|protein_coding||c.-21486T>C|||||800|,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198902.1|protein_coding|1/9|c.-21+365A>G||||||,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139119.2|protein_coding|1/10|c.-151-93A>G||||||,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198900.1|protein_coding|1/9|c.-143-93A>G||||||,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198905.1|protein_coding|1/10|c.-151-93A>G||||||,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_018253.3|protein_coding|1/11|c.-265-93A>G||||||,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139121.2|protein_coding|1/10|c.-375+636A>G||||||,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198901.1|protein_coding|1/9|c.-21+636A>G||||||,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_001198906.1|protein_coding|1/10|c.48-93A>G||||||,C|intron_variant|MODIFIER|YY1AP1|YY1AP1|transcript|NM_139118.2|protein_coding|1/10|c.48-93A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2662;p3_1000G_AF=0.53155;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=15905;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155658085;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:638,60,0
chr1	155716948	rs377724521	CA	C	29.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-0.204;SOR=0.892;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs377724521;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199849.1|protein_coding|3/13|c.46-41delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199850.1|protein_coding|2/11|c.46-41delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199851.1|protein_coding|2/11|c.46-4552delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_004632.3|protein_coding|2/12|c.46-41delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_033657.2|protein_coding|2/12|c.46-41delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:6,4:10:67:67,0,109
chr1	155731264	rs111619259	C	CA	26.74	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=0.556;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs111619259;dbSNPBuildID=132;ANN=CA|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199849.1|protein_coding|10/13|c.844-77dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199850.1|protein_coding|8/11|c.742-77dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199851.1|protein_coding|8/11|c.721-77dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_004632.3|protein_coding|9/12|c.844-77dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_033657.2|protein_coding|9/12|c.844-77dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:13,5:18:64:64,0,281
chr1	155736426	rs644853	T	G	142.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs644853;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199849.1|protein_coding|12/13|c.994-520T>G||||||,G|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199850.1|protein_coding|10/11|c.892-520T>G||||||,G|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_001199851.1|protein_coding|10/11|c.871-520T>G||||||,G|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_004632.3|protein_coding|11/12|c.994-520T>G||||||,G|intron_variant|MODIFIER|DAP3|DAP3|transcript|NM_033657.2|protein_coding|11/12|c.994-520T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2923;p3_1000G_AF=0.583666;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=22334;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155706217;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:170,12,0
chr1	155745850	rs11264409	G	A	154.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.73;QD=30.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs376090648,rs11264409;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding||c.*4734C>T|||||3808|,A|downstream_gene_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding||c.*4734C>T|||||3808|,A|downstream_gene_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding||c.*4734C>T|||||3808|,A|non_coding_transcript_exon_variant|MODIFIER|MSTO2P|MSTO2P.2|transcript|NR_024117.2.2|pseudogene|1/13|n.83G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1750;p3_1000G_AF=0.349441;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=10213;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155715641;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:183,15,0
chr1	155749676	rs394851	G	T	30.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.32;QD=15.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs394851;dbSNPBuildID=80;ANN=T|3_prime_UTR_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|32/32|c.*908C>A|||||908|,T|3_prime_UTR_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|32/32|c.*908C>A|||||908|,T|3_prime_UTR_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|32/32|c.*908C>A|||||908|,T|intron_variant|MODIFIER|MSTO2P|MSTO2P.2|transcript|NR_024117.2.2|pseudogene|12/12|n.1468+45G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2251;p3_1000G_AF=0.449481;p3_1000G_AFR_AF=0.8797;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=12314;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155719467;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:58,6,0
chr1	155753506	rs6427286	T	C	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.15;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427286;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|MSTO2P|MSTO2P.2|transcript|NR_024117.2.2|pseudogene||n.*2818T>C|||||2818|,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|28/31|c.5632-92A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|28/31|c.5632-92A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|28/31|c.5632-92A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2766;p3_1000G_AF=0.552316;p3_1000G_AFR_AF=0.8116;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=21603;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.3529;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155723297;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:463,36,0
chr1	155765221	rs2297775	T	C	2693.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297775;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|21/32|c.4252A>G|p.Met1418Val|4375/7775|4252/6726|1418/2241||,C|missense_variant|MODERATE|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|21/32|c.4252A>G|p.Met1418Val|4427/7824|4252/6723|1418/2240||,C|missense_variant|MODERATE|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|21/32|c.4252A>G|p.Met1418Val|4427/7827|4252/6726|1418/2241||,C|missense_variant|MODERATE|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|21/21|c.4252A>G|p.Met1418Val|4427/5186|4252/4590|1418/1529||,C|missense_variant|MODERATE|GON4L|GON4L|transcript|NM_032292.5|protein_coding|21/21|c.4252A>G|p.Met1418Val|4415/5174|4252/4590|1418/1529||;p3_1000G_AA=T|||;p3_1000G_AC=1774;p3_1000G_AF=0.354233;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=21690;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.2972;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155735012;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=913,3493;ESP6500_AA_AGE=350.5+/-310.9;ESP6500_AA_GTC=106,701,1396;ESP6500_CDS_SIZES=NM_032292.4:4590,NM_001037533.1:6723;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=92;ESP6500_EA_AC=2611,5989;ESP6500_EA_AGE=423.3+/-354.3;ESP6500_EA_GTC=407,1797,2096;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032292.4:missense,NM_001037533.1:missense;ESP6500_GL=GON4L;ESP6500_GRCh38_POSITION=1:155765221;ESP6500_GS=21,21;ESP6500_GTC=513,2498,3492;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032292.4:c.4252A>G,NM_001037533.1:c.4252A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032292.4:p.(M1418V),NM_001037533.1:p.(M1418V);ESP6500_MAF=30.3605,20.7217,27.0952;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=3524,9482	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2722,239,0
chr1	155767594	rs849712	C	T	873.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.05;QD=31.21;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs849712;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|19/31|c.2647-53G>A||||||,T|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|19/31|c.2647-53G>A||||||,T|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|19/31|c.2647-53G>A||||||,T|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|19/20|c.2647-53G>A||||||,T|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|19/20|c.2647-53G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4647;p3_1000G_AF=0.927915;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=15980;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155737385;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:902,84,0
chr1	155767634	rs576453765;rs760913977;rs565457672	AAC	A	69.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.219;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=6.043;MLEAC=1;MLEAF=0.5;MQ=52.4;MQRankSum=-1.129;QD=3.49;ReadPosRankSum=-0.175;SOR=0.078;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142,144;ANN=A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|19/31|c.2647-95_2647-94delGT||||||,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|19/31|c.2647-95_2647-94delGT||||||,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|19/31|c.2647-95_2647-94delGT||||||,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|19/20|c.2647-95_2647-94delGT||||||,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|19/20|c.2647-95_2647-94delGT||||||;p3_1000G_AC=326;p3_1000G_AF=0.0650958;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=22526;p3_1000G_EAS_AF=0.0883;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155737425;p3_1000G_GRCH37_REF=AAC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0429;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:15,5:20:99:107,0,435
chr1	155776549	rs551984336;rs60525991;rs74563667	CT	C	250.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.79;SOR=3.442;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs74563667,rs60525991;dbSNPBuildID=130,142,138;ANN=C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|15/31|c.2092-69delA||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|15/31|c.2092-69delA||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|15/31|c.2092-69delA||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|15/20|c.2092-69delA||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|15/20|c.2092-69delA||||||	GT:AD:DP:GQ:PL	1/1:0,11:11:32:288,32,0
chr1	155783885	rs822019	A	G	875.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs822019;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|SCARNA26B|SCARNA26B|transcript|NR_132767.1|pseudogene||n.-53T>C|||||53|,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|14/31|c.1892+101T>C||||||,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|14/31|c.1892+101T>C||||||,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|14/31|c.1892+101T>C||||||,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|14/20|c.1892+101T>C||||||,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|14/20|c.1892+101T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4106;p3_1000G_AF=0.819888;p3_1000G_AFR_AF=0.438;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=21084;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155753676;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9448;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:904,69,0
chr1	155785306	rs822021	G	A	1393.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=1.414;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs822021;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|SCARNA26B|SCARNA26B|transcript|NR_132767.1|pseudogene||n.-1474C>T|||||1474|,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|13/31|c.1788+28C>T||||||,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|13/31|c.1788+28C>T||||||,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|13/31|c.1788+28C>T||||||,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|13/20|c.1788+28C>T||||||,A|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|13/20|c.1788+28C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=19376;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155755097;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3422,984;ESP6500_AA_AGE=369.1+/-318.9;ESP6500_AA_GTC=1319,784,100;ESP6500_CDS_SIZES=NM_032292.4:4590,NM_001037533.1:6723;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=148;ESP6500_EA_AC=8594,6;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4294,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032292.4:intron,NM_001037533.1:intron;ESP6500_GL=GON4L;ESP6500_GRCh38_POSITION=1:155785306;ESP6500_GTC=5613,790,100;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032292.4:c.1788+28C>T,NM_001037533.1:c.1788+28C>T;ESP6500_MAF=0.0698,22.3332,7.6119;ESP6500_TAC=12016,990	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1422,135,0
chr1	155785448	rs822022	T	C	2010.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=1.41;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs822022;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|SCARNA26B|SCARNA26B|transcript|NR_132767.1|pseudogene||n.-1616A>G|||||1616|,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|12/31|c.1748-74A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|12/31|c.1748-74A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|12/31|c.1748-74A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|12/20|c.1748-74A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|12/20|c.1748-74A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4319;p3_1000G_AF=0.86242;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=22406;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155755239;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9652;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=896,488;ESP6500_AA_GTC=287,322,83;ESP6500_CDS_SIZES=NM_032292.4:4590,NM_001037533.1:6723;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=84;ESP6500_EA_AC=3024,158;ESP6500_EA_GTC=1436,152,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032292.4:intron,NM_001037533.1:intron;ESP6500_GL=GON4L;ESP6500_GRCh38_POSITION=1:155785448;ESP6500_GTC=1723,474,86;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032292.4:c.1748-74A>G,NM_001037533.1:c.1748-74A>G;ESP6500_MAF=4.9654,35.2601,14.1481;ESP6500_TAC=3920,646	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2039,201,0
chr1	155795017	rs3738591	C	G	1031.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=1.751;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738591;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|12/31|c.1747+33G>C||||||,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|12/31|c.1747+33G>C||||||,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|12/31|c.1747+33G>C||||||,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|12/20|c.1747+33G>C||||||,G|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|12/20|c.1747+33G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1054;p3_1000G_AF=0.210463;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=19218;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155764808;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=84,4322;ESP6500_AA_AGE=69.8+/-107.6;ESP6500_AA_GTC=1,82,2120;ESP6500_CDS_SIZES=NM_032292.4:4590,NM_001037533.1:6723;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=78;ESP6500_EA_AC=440,8160;ESP6500_EA_AGE=133.8+/-191.2;ESP6500_EA_GTC=8,424,3868;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032292.4:intron,NM_001037533.1:intron;ESP6500_GL=GON4L;ESP6500_GRCh38_POSITION=1:155795017;ESP6500_GTC=9,506,5988;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_032292.4:c.1747+33G>C,NM_001037533.1:c.1747+33G>C;ESP6500_MAF=5.1163,1.9065,4.0289;ESP6500_TAC=524,12482	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1060,99,0
chr1	155815787	rs148569012;rs375366111;rs3028172	CAACT	C	2339.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=0.981;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs375366111,rs148569012;dbSNPBuildID=134,138;ANN=C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|8/31|c.1161+14_1161+17delAGTT||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|8/31|c.1161+14_1161+17delAGTT||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|8/31|c.1161+14_1161+17delAGTT||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|8/20|c.1161+14_1161+17delAGTT||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|8/20|c.1161+14_1161+17delAGTT||||||;p3_1000G_AC=4320;p3_1000G_AF=0.86262;p3_1000G_AFR_AF=0.5809;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=18312;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155785578;p3_1000G_GRCH37_REF=CAACT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9652;p3_1000G_VT=INDEL;ESP6500_AA_AC=2759,12,1495;ESP6500_AA_GTC=900,0,959,6,0,268;ESP6500_CDS_SIZES=NM_032292.4:4590,NM_032292.4:4590,NM_001037533.1:6723,NM_001037533.1:6723;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=80;ESP6500_EA_AC=7826,2,426;ESP6500_EA_GTC=3712,0,402,1,0,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032292.4:intron,NM_032292.4:intron,NM_001037533.1:intron,NM_001037533.1:intron;ESP6500_GL=GON4L;ESP6500_GRCh38_POSITION=1:155815787;ESP6500_GTC=4612,0,1361,7,0,280;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_032292.4:c.1161+15_1161+17del5,NM_032292.4:c.1161+14_1161+17del4,NM_001037533.1:c.1161+15_1161+17del5,NM_001037533.1:c.1161+14_1161+17del4;ESP6500_MAF=5.1854,35.3258,15.4553;ESP6500_TAC=10585,14,1921	GT:AD:DP:GQ:PL	1/1:0,53:53:99:2377,160,0
chr1	155853211	rs822491	T	C	1531.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.81;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs822491;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding|2/31|c.505+65A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding|2/31|c.505+65A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding|2/31|c.505+65A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding|2/20|c.505+65A>G||||||,C|intron_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding|2/20|c.505+65A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=24236;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155823002;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,44:44:99:1|1:155853197_A_C:1560,132,0
chr1	155859720	rs3820594	C	T	1561.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=0.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820594;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|SYT11|SYT11|transcript|NM_152280.4|protein_coding|1/4|c.-42C>T|||||42|,T|upstream_gene_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282856.1|protein_coding||c.-5940G>A|||||320|,T|upstream_gene_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282858.1|protein_coding||c.-5940G>A|||||2425|,T|upstream_gene_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282860.1|protein_coding||c.-5940G>A|||||2425|,T|upstream_gene_variant|MODIFIER|GON4L|GON4L|transcript|NM_001282861.1|protein_coding||c.-5940G>A|||||2425|,T|upstream_gene_variant|MODIFIER|GON4L|GON4L|transcript|NM_032292.5|protein_coding||c.-5940G>A|||||2425|;p3_1000G_AA=C|||;p3_1000G_AC=1747;p3_1000G_AF=0.348842;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=20944;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.2883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155829511;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=847,3559;ESP6500_AA_AGE=332.8+/-302.6;ESP6500_AA_GTC=96,655,1452;ESP6500_CDS_SIZES=NM_152280.4:1296;ESP6500_CG=4.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=163;ESP6500_EA_AC=2537,6063;ESP6500_EA_AGE=415.3+/-351.7;ESP6500_EA_GTC=383,1771,2146;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152280.4:utr-5;ESP6500_GL=SYT11;ESP6500_GRCh38_POSITION=1:155859720;ESP6500_GTC=479,2426,3598;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152280.4:c.-42C>T;ESP6500_MAF=29.5,19.2238,26.0188;ESP6500_TAC=3384,9622	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1590,153,0
chr1	155868074	rs822522	G	C	1954.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs822522;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|SYT11|SYT11|transcript|NM_152280.4|protein_coding|2/4|c.144G>C|p.Gln48His|437/5280|144/1296|48/431||;p3_1000G_AA=C|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=20132;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155837865;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3821,585;ESP6500_AA_AGE=258.9+/-262.7;ESP6500_AA_GTC=1650,521,32;ESP6500_CDS_SIZES=NM_152280.4:1296;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=129;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152280.4:missense;ESP6500_GL=SYT11;ESP6500_GRCh38_POSITION=1:155868074;ESP6500_GS=24;ESP6500_GTC=5947,524,32;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_152280.4:c.144G>C;ESP6500_HGVS_PROTEIN_VAR=NM_152280.4:p.(Q48H);ESP6500_MAF=0.0349,13.2773,4.521;ESP6500_PH=benign:0.0;ESP6500_TAC=12418,588	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1983,180,0
chr1	155868476	rs822521	T	C	2576.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=1.252;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs822521;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|SYT11|SYT11|transcript|NM_152280.4|protein_coding|2/4|c.546T>C|p.His182His|839/5280|546/1296|182/431||;p3_1000G_AA=T|||;p3_1000G_AC=4663;p3_1000G_AF=0.93111;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=19990;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155838267;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3441,965;ESP6500_AA_AGE=731.7+/-410.3;ESP6500_AA_GTC=1335,771,97;ESP6500_CDS_SIZES=NM_152280.4:1296;ESP6500_CG=-1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=64;ESP6500_EA_AC=8594,6;ESP6500_EA_AGE=815.7+/-407.0;ESP6500_EA_GTC=4294,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152280.4:coding-synonymous;ESP6500_GL=SYT11;ESP6500_GRCh38_POSITION=1:155868476;ESP6500_GTC=5629,777,97;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152280.4:c.546T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152280.4:p.(H182);ESP6500_MAF=0.0698,21.902,7.4658;ESP6500_TAC=12035,971	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2605,234,0
chr1	155900625	rs1749409;181519	G	A	592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.64;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1749409;dbSNPBuildID=89;ANN=A|splice_region_variant&intron_variant|LOW|RIT1|RIT1|transcript|NM_001256821.1|protein_coding|5/5|c.481-7C>T||||||,A|splice_region_variant&intron_variant|LOW|RIT1|RIT1|transcript|NM_001256820.1|protein_coding|4/4|c.322-7C>T||||||,A|splice_region_variant&intron_variant|LOW|RIT1|RIT1|transcript|NM_006912.5|protein_coding|5/5|c.430-7C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3905;p3_1000G_AF=0.779752;p3_1000G_AFR_AF=0.4327;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=19415;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.8926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155870416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2405,2001;ESP6500_AA_AGE=530.3+/-372.9;ESP6500_AA_GTC=672,1061,470;ESP6500_CDS_SIZES=NM_006912.5:660,NM_001256821.1:711,NM_001256820.1:552;ESP6500_CG=2.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=80;ESP6500_EA_AC=7914,686;ESP6500_EA_AGE=150.6+/-205.5;ESP6500_EA_GTC=3650,614,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006912.5:intron,NM_001256821.1:intron,NM_001256820.1:intron;ESP6500_GL=RIT1;ESP6500_GRCh38_POSITION=1:155900625;ESP6500_GTC=4322,1675,506;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006912.5:c.430-7C>T,NM_001256821.1:c.481-7C>T,NM_001256820.1:c.322-7C>T;ESP6500_MAF=7.9767,45.4153,20.6597;ESP6500_TAC=10319,2687;CLINVAR_ALLELEID=178910;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.155900625G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RIT1:6016;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1749409	GT:AD:DP:GQ:PL	1/1:0,20:20:59:621,59,0
chr1	155904169	rs1765275	A	G	358.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1765275;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256821.1|protein_coding|5/5|c.480+142T>C||||||,G|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256820.1|protein_coding|4/4|c.321+142T>C||||||,G|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_006912.5|protein_coding|5/5|c.429+142T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4258;p3_1000G_AF=0.85024;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=20368;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155873960;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:387,27,0
chr1	155910368	rs867549	T	C	670.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=2.531;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs867549;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|KIAA0907|KIAA0907|transcript|NM_014949.3|protein_coding||c.*3753A>G|||||2675|,C|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256821.1|protein_coding|3/5|c.214+82A>G||||||,C|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256820.1|protein_coding|2/4|c.55+82A>G||||||,C|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_006912.5|protein_coding|3/5|c.163+82A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1904;p3_1000G_AF=0.380192;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=19066;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155880159;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:699,60,0
chr1	155910600	rs867550	T	C	1359.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs867550;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|KIAA0907|KIAA0907|transcript|NM_014949.3|protein_coding||c.*3521A>G|||||2443|,C|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256821.1|protein_coding|2/5|c.157+56A>G||||||,C|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256820.1|protein_coding|1/4|c.-2-94A>G||||||,C|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_006912.5|protein_coding|2/5|c.106+56A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1873;p3_1000G_AF=0.374002;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=21180;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155880391;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1388,120,0
chr1	155910782	rs493446;227047	C	G	1457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=1.364;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs493446;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|RIT1|RIT1|transcript|NM_001256821.1|protein_coding|2/6|c.31G>C|p.Glu11Gln|61/3321|31/711|11/236||,G|5_prime_UTR_variant|MODIFIER|RIT1|RIT1|transcript|NM_006912.5|protein_coding|2/6|c.-21G>C|||||21|,G|downstream_gene_variant|MODIFIER|KIAA0907|KIAA0907|transcript|NM_014949.3|protein_coding||c.*3339G>C|||||2261|,G|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256820.1|protein_coding|1/4|c.-2-276G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3906;p3_1000G_AF=0.779952;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=16149;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.8926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155880573;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2417,1989;ESP6500_AA_AGE=549.7+/-377.9;ESP6500_AA_GTC=672,1073,458;ESP6500_CDS_SIZES=NM_006912.5:660,NM_001256821.1:711,NM_001256820.1:552;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=54;ESP6500_EA_AC=7926,674;ESP6500_EA_AGE=166.4+/-218.3;ESP6500_EA_GTC=3652,622,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006912.5:utr-5,NM_001256821.1:missense,NM_001256820.1:intron;ESP6500_GL=RIT1;ESP6500_GRCh38_POSITION=1:155910782;ESP6500_GS=.,29,.;ESP6500_GTC=4324,1695,484;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006912.5:c.-21G>C,NM_001256821.1:c.31G>C,NM_001256820.1:c.-278G>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001256821.1:p.(E11Q),.;ESP6500_MAF=7.8372,45.143,20.4752;ESP6500_TAC=10343,2663;CLINVAR_ALLELEID=228267;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.155910782C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RIT1:6016;CLINVAR_MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=493446	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1486,132,0
chr1	155910969	rs79437610	C	CA	604.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5777961,rs79437610;dbSNPBuildID=131;ANN=CA|upstream_gene_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256821.1|protein_coding||c.-85_-84insT|||||55|,CA|downstream_gene_variant|MODIFIER|KIAA0907|KIAA0907|transcript|NM_014949.3|protein_coding||c.*3151_*3152insT|||||2073|,CA|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_001256820.1|protein_coding|1/4|c.-3+273_-3+274insT||||||,CA|intron_variant|MODIFIER|RIT1|RIT1|transcript|NM_006912.5|protein_coding|1/5|c.-43-166_-43-165insT||||||;p3_1000G_AA=?|-|A|unsure;p3_1000G_AC=3781;p3_1000G_AF=0.754992;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=16327;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155880760;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,16:16:48:642,48,0
chr1	155933519	rs4661150	T	C	520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4661150;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|KIAA0907|KIAA0907|transcript|NM_014949.3|protein_coding|2/13|c.255+114A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4821;p3_1000G_AF=0.96266;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=15347;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155903310;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:549,39,0
chr1	155933951	rs2275078	T	C	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.422;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275078;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KIAA0907|KIAA0907|transcript|NM_014949.3|protein_coding|1/13|c.39-102A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=34;p3_1000G_AF=0.00678914;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19312;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155903742;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,15:26:99:399,0,181
chr1	155934386	rs2275079	T	C	4660.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=141;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=0.812;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275079;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|KIAA0907|KIAA0907|transcript|NM_014949.3|protein_coding|1/14|c.-13A>G|||||13|;p3_1000G_AA=T|||;p3_1000G_AC=3904;p3_1000G_AF=0.779553;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=16664;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.8926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155904177;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2417,1987;ESP6500_AA_GTC=675,1067,460;ESP6500_CDS_SIZES=NM_014949.2:1845;ESP6500_CG=-5.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=26;ESP6500_EA_AC=7897,697;ESP6500_EA_GTC=3631,635,31;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014949.2:utr-5;ESP6500_GL=KIAA0907;ESP6500_GRCh38_POSITION=1:155934386;ESP6500_GTC=4306,1702,491;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014949.2:c.-13A>G;ESP6500_MAF=8.1103,45.1181,20.6493;ESP6500_TAC=10314,2684	GT:AD:DP:GQ:PL	1/1:0,140:140:99:4689,420,0
chr1	155942695	rs2152051	T	C	1563.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=1.562;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2152051;dbSNPBuildID=96;ANN=C|missense_variant|MODERATE|RXFP4|RXFP4|transcript|NM_181885.2|protein_coding|1/1|c.986T>C|p.Leu329Ser|1007/1146|986/1125|329/374||,C|downstream_gene_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162383.1|protein_coding||c.*5247A>G|||||4144|,C|downstream_gene_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_004723.3|protein_coding||c.*5247A>G|||||4144|,C|downstream_gene_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162384.1|protein_coding||c.*5247A>G|||||4144|;p3_1000G_AA=C|||;p3_1000G_AC=4628;p3_1000G_AF=0.924121;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=15531;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155912486;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3591,813;ESP6500_AA_AGE=299.0+/-285.6;ESP6500_AA_GTC=1460,671,71;ESP6500_CDS_SIZES=NM_181885.2:1125;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=45;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181885.2:missense;ESP6500_GL=RXFP4;ESP6500_GRCh38_POSITION=1:155942695;ESP6500_GS=145;ESP6500_GTC=5755,676,71;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181885.2:c.986T>C;ESP6500_HGVS_PROTEIN_VAR=NM_181885.2:p.(L329S);ESP6500_MAF=0.0581,18.4605,6.2904;ESP6500_PH=benign:0.0;ESP6500_TAC=12186,818	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,48:48:99:1|1:155942692_G_T:1592,144,0
chr1	155948089	rs1010033	T	A	462.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1010033;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|MIR6738|MIR6738|transcript|NR_106796.1|pseudogene||n.*3184A>T|||||3184|,A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162383.1|protein_coding|21/21|c.2888-74A>T||||||,A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_004723.3|protein_coding|21/21|c.2804-74A>T||||||,A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162384.1|protein_coding|21/21|c.2885-74A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3872;p3_1000G_AF=0.773163;p3_1000G_AFR_AF=0.407;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=13202;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155917880;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:491,48,0
chr1	155957961	rs2364403	G	A	505.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2364403;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162383.1|protein_coding|12/21|c.1546-79C>T||||||,A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_004723.3|protein_coding|12/21|c.1462-79C>T||||||,A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162384.1|protein_coding|12/21|c.1543-79C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1825;p3_1000G_AF=0.364417;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=20682;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155927752;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:534,51,0
chr1	155958441	rs2364404	T	C	1210.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.13;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2364404;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162383.1|protein_coding|11/21|c.1469-45A>G||||||,C|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_004723.3|protein_coding|11/21|c.1385-45A>G||||||,C|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162384.1|protein_coding|11/21|c.1466-45A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3876;p3_1000G_AF=0.773962;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=16999;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155928232;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2322,2084;ESP6500_AA_AGE=599.9+/-389.4;ESP6500_AA_GTC=616,1090,497;ESP6500_CDS_SIZES=NM_004723.3:2877,NM_001162384.1:2958,NM_001162383.1:2961;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=7919,681;ESP6500_EA_AGE=778.7+/-407.7;ESP6500_EA_GTC=3647,625,28;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004723.3:intron,NM_001162384.1:intron,NM_001162383.1:intron;ESP6500_GL=ARHGEF2;ESP6500_GRCh38_POSITION=1:155958441;ESP6500_GTC=4263,1715,525;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004723.3:c.1385-45A>G,NM_001162384.1:c.1466-45A>G,NM_001162383.1:c.1469-45A>G;ESP6500_MAF=7.9186,47.2991,21.2594;ESP6500_TAC=10241,2765	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:90:1|1:155958441_T_C:1239,90,0
chr1	155958451	rs2886069	C	T	1076.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2886069;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162383.1|protein_coding|11/21|c.1469-55G>A||||||,T|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_004723.3|protein_coding|11/21|c.1385-55G>A||||||,T|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162384.1|protein_coding|11/21|c.1466-55G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3908;p3_1000G_AF=0.780351;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=16742;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155928242;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=751,633;ESP6500_AA_GTC=206,339,147;ESP6500_CDS_SIZES=NM_004723.3:2877,NM_001162384.1:2958,NM_001162383.1:2961;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=46;ESP6500_EA_AC=2936,246;ESP6500_EA_GTC=1354,228,9;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004723.3:intron,NM_001162384.1:intron,NM_001162383.1:intron;ESP6500_GL=ARHGEF2;ESP6500_GRCh38_POSITION=1:155958451;ESP6500_GTC=1560,567,156;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004723.3:c.1385-55G>A,NM_001162384.1:c.1466-55G>A,NM_001162383.1:c.1469-55G>A;ESP6500_MAF=7.731,45.737,19.251;ESP6500_TAC=3687,879	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:155958441_T_C:1105,75,0
chr1	155964892	rs11295795;rs796245941	CA	C	24.08	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.02;ReadPosRankSum=-1.15;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11295795;dbSNPBuildID=134,146;ANN=C|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162383.1|protein_coding|7/21|c.724+95delT||||||,C|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_004723.3|protein_coding|7/21|c.640+95delT||||||,C|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162384.1|protein_coding|7/21|c.721+95delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=17693;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155934683;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,3:4:11:61,0,11
chr1	155965453	rs2297649	C	A	1005.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297649;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162383.1|protein_coding|5/21|c.471-41G>T||||||,A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_004723.3|protein_coding|5/21|c.390-41G>T||||||,A|intron_variant|MODIFIER|ARHGEF2|ARHGEF2|transcript|NM_001162384.1|protein_coding|5/21|c.471-41G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1820;p3_1000G_AF=0.363419;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18107;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.2366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155935244;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=985,3421;ESP6500_AA_AGE=357.1+/-313.8;ESP6500_AA_GTC=110,765,1328;ESP6500_CDS_SIZES=NM_004723.3:2877,NM_001162384.1:2958,NM_001162383.1:2961;ESP6500_CG=3.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=26;ESP6500_EA_AC=2212,6388;ESP6500_EA_AGE=365.6+/-334.0;ESP6500_EA_GTC=271,1670,2359;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004723.3:intron,NM_001162384.1:intron,NM_001162383.1:intron;ESP6500_GL=ARHGEF2;ESP6500_GRCh38_POSITION=1:155965453;ESP6500_GTC=381,2435,3687;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_004723.3:c.390-41G>T,NM_001162384.1:c.471-41G>T,NM_001162383.1:c.471-41G>T;ESP6500_MAF=25.7209,22.3559,24.581;ESP6500_TAC=3197,9809	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1034,90,0
chr1	156199819	rs2072499	A	G	805.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.35;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=4.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.933;SOR=1.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072499;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NM_001286184.1|protein_coding|1/3|c.-13-16A>G||||||,G|intron_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NM_014655.3|protein_coding|1/3|c.-13-16A>G||||||,G|intron_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NR_104408.1|pseudogene|2/3|n.477+3646A>G||||||,G|intron_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NR_104411.1|pseudogene|1/2|n.316+5572A>G||||||,G|intron_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NR_104412.1|pseudogene|1/1|n.316+5572A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1913;p3_1000G_AF=0.381989;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=23132;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.3618;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156169610;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2782,1624;ESP6500_AA_AGE=500.5+/-364.7;ESP6500_AA_GTC=884,1014,305;ESP6500_CDS_SIZES=NM_014655.2:945;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=88;ESP6500_EA_AC=2962,5638;ESP6500_EA_AGE=667.2+/-402.4;ESP6500_EA_GTC=517,1928,1855;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014655.2:intron;ESP6500_GL=SLC25A44;ESP6500_GRCh38_POSITION=1:156199819;ESP6500_GTC=1401,2942,2160;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014655.2:c.-29A>G;ESP6500_MAF=34.4419,36.8588,44.1642;ESP6500_TAC=5744,7262	GT:AD:DP:GQ:PL	0/1:24,28:52:99:834,0,578
chr1	156212919	rs2241107	T	C	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=1.29;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241107;dbSNPBuildID=98;ANN=C|upstream_gene_variant|MODIFIER|PMF1|PMF1|transcript|NM_001199654.1|protein_coding||c.-97T>C|||||69|,C|upstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199661.1|protein_coding||c.-97T>C|||||69|,C|upstream_gene_variant|MODIFIER|PMF1|PMF1|transcript|NM_001199653.1|protein_coding||c.-97T>C|||||69|,C|upstream_gene_variant|MODIFIER|PMF1|PMF1|transcript|NM_007221.3|protein_coding||c.-97T>C|||||69|,C|upstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199662.1|protein_coding||c.-97T>C|||||69|,C|upstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199663.1|protein_coding||c.-97T>C|||||69|,C|upstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199664.1|protein_coding||c.-97T>C|||||69|,C|downstream_gene_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NM_001286184.1|protein_coding||c.*2488T>C|||||123|,C|downstream_gene_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NM_014655.3|protein_coding||c.*2488T>C|||||123|,C|downstream_gene_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NR_104408.1|pseudogene||n.*123T>C|||||123|,C|downstream_gene_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NR_104411.1|pseudogene||n.*123T>C|||||123|,C|downstream_gene_variant|MODIFIER|SLC25A44|SLC25A44|transcript|NR_104412.1|pseudogene||n.*123T>C|||||123|,C|intergenic_region|MODIFIER|SLC25A44-PMF1|SLC25A44-PMF1|intergenic_region|SLC25A44-PMF1|||n.156212919T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1912;p3_1000G_AF=0.381789;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=14058;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.3618;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156182710;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:165,0,233
chr1	156225414	rs2758600	C	T	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.566;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2758600;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PMF1|PMF1|transcript|NM_001199654.1|protein_coding|1/4|c.162-143C>T||||||,T|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199661.1|protein_coding|1/6|c.162-6906C>T||||||,T|intron_variant|MODIFIER|PMF1|PMF1|transcript|NM_001199653.1|protein_coding|1/4|c.162-6906C>T||||||,T|intron_variant|MODIFIER|PMF1|PMF1|transcript|NM_007221.3|protein_coding|1/4|c.162-6906C>T||||||,T|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199662.1|protein_coding|1/6|c.162-6906C>T||||||,T|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199663.1|protein_coding|1/5|c.162-6906C>T||||||,T|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199664.1|protein_coding|1/4|c.162-10874C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1229;p3_1000G_AF=0.245407;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=14362;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.3439;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156195205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:129,0,103
chr1	156232382	rs1052053	A	G	828.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.553;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=3.514;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.528;SOR=0.899;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052053;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199661.1|protein_coding|2/7|c.224A>G|p.Gln75Arg|252/940|224/663|75/220||,G|missense_variant|MODERATE|PMF1|PMF1|transcript|NM_001199653.1|protein_coding|2/5|c.224A>G|p.Gln75Arg|252/1061|224/543|75/180||,G|missense_variant|MODERATE|PMF1|PMF1|transcript|NM_007221.3|protein_coding|2/5|c.224A>G|p.Gln75Arg|252/1122|224/618|75/205||,G|missense_variant|MODERATE|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199662.1|protein_coding|2/7|c.224A>G|p.Gln75Arg|252/1001|224/636|75/211||,G|missense_variant|MODERATE|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199663.1|protein_coding|2/6|c.224A>G|p.Gln75Arg|252/805|224/528|75/175||,G|intron_variant|MODIFIER|PMF1|PMF1|transcript|NM_001199654.1|protein_coding|2/4|c.274-1246A>G||||||,G|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199664.1|protein_coding|1/4|c.162-3906A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2240;p3_1000G_AF=0.447284;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=20911;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156202173;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2971,1435;ESP6500_AA_AGE=467.4+/-354.8;ESP6500_AA_GTC=1006,959,238;ESP6500_CDS_SIZES=NM_007221.3:618,NM_001199664.1:429,NM_001199663.1:528,NM_001199662.1:636,NM_001199661.1:663,NM_001199654.1:624,NM_001199653.1:543;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=191;ESP6500_EA_AC=3134,5466;ESP6500_EA_AGE=657.1+/-401.4;ESP6500_EA_GTC=573,1988,1739;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007221.3:missense,NM_001199664.1:intron,NM_001199663.1:missense,NM_001199662.1:missense,NM_001199661.1:missense,NM_001199654.1:intron,NM_001199653.1:missense;ESP6500_GL=PMF1,PMF1-BGLAP;ESP6500_GRCh38_POSITION=1:156232382;ESP6500_GS=43,.,43,43,43,.,43;ESP6500_GTC=1579,2947,1977;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007221.3:c.224A>G,NM_001199664.1:c.162-3906A>G,NM_001199663.1:c.224A>G,NM_001199662.1:c.224A>G,NM_001199661.1:c.224A>G,NM_001199654.1:c.274-1246A>G,NM_001199653.1:c.224A>G;ESP6500_HGVS_PROTEIN_VAR=NM_007221.3:p.(Q75R),.,NM_001199663.1:p.(Q75R),NM_001199662.1:p.(Q75R),NM_001199661.1:p.(Q75R),.,NM_001199653.1:p.(Q75R);ESP6500_MAF=36.4419,32.5692,46.9399;ESP6500_PH=benign:0.0,.,benign:0.0,benign:0.0,benign:0.0,.,benign:0.0;ESP6500_TAC=6105,6901	GT:AD:DP:GQ:PL	0/1:29,33:62:99:857,0,707
chr1	156232509	rs2251615	C	T	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.849;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.427;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.08;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2251615;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PMF1|PMF1|transcript|NM_001199654.1|protein_coding|2/4|c.274-1119C>T||||||,T|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199661.1|protein_coding|2/6|c.267+84C>T||||||,T|intron_variant|MODIFIER|PMF1|PMF1|transcript|NM_001199653.1|protein_coding|2/4|c.267+84C>T||||||,T|intron_variant|MODIFIER|PMF1|PMF1|transcript|NM_007221.3|protein_coding|2/4|c.267+84C>T||||||,T|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199662.1|protein_coding|2/6|c.267+84C>T||||||,T|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199663.1|protein_coding|2/5|c.267+84C>T||||||,T|intron_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199664.1|protein_coding|1/4|c.162-3779C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=548;p3_1000G_AF=0.109425;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=17487;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156202300;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,13:29:99:386,0,414
chr1	156245771	rs2075166	G	A	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.65;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.39;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075166;dbSNPBuildID=96;ANN=A|downstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199661.1|protein_coding||c.*2688G>A|||||2439|,A|downstream_gene_variant|MODIFIER|BGLAP|BGLAP|transcript|NM_199173.5|protein_coding||c.*2609G>A|||||2439|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding||c.*4816C>T|||||3453|,A|downstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199662.1|protein_coding||c.*2977G>A|||||2439|,A|downstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199663.1|protein_coding||c.*2688G>A|||||2439|,A|downstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199664.1|protein_coding||c.*2977G>A|||||2439|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding||c.*4816C>T|||||3453|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding||c.*4816C>T|||||3453|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding||c.*4816C>T|||||3453|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding||c.*4816C>T|||||3453|,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_024897.3|protein_coding|3/6|c.67+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272104.1|protein_coding|4/7|c.385+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272105.1|protein_coding|5/8|c.376+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272106.1|protein_coding|2/5|c.-16+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272107.1|protein_coding|3/6|c.67+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272108.1|protein_coding|3/5|c.179+352C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272109.1|protein_coding|2/4|c.-156+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272110.1|protein_coding|4/6|c.-156+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272111.1|protein_coding|4/6|c.-156+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272112.1|protein_coding|3/4|c.-59+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272113.1|protein_coding|3/4|c.-59+352C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_198406.2|protein_coding|4/7|c.385+11C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NR_073610.1|pseudogene|3/6|n.495+11C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=991;p3_1000G_AF=0.197883;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=14964;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.2604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156215562;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=481,3887;ESP6500_AA_GTC=29,423,1732;ESP6500_CDS_SIZES=NM_198406.1:1035,NM_024897.2:1056;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=12;ESP6500_EA_AC=2327,6223;ESP6500_EA_GTC=337,1653,2285;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198406.1:intron,NM_024897.2:intron;ESP6500_GL=PAQR6;ESP6500_GRCh38_POSITION=1:156245771;ESP6500_GTC=366,2076,4017;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198406.1:c.385+11C>T,NM_024897.2:c.67+11C>T;ESP6500_MAF=27.2164,11.0119,21.7371;ESP6500_TAC=2808,10110	GT:AD:DP:GQ:PL	0/1:20,15:35:99:352,0,540
chr1	156246108	rs2075165	G	A	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.86;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.3;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075165;dbSNPBuildID=96;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PAQR6|PAQR6|transcript|NM_024897.3|protein_coding|3/7|c.-260C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PAQR6|PAQR6|transcript|NM_001272106.1|protein_coding|2/6|c.-342C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PAQR6|PAQR6|transcript|NM_001272107.1|protein_coding|3/7|c.-260C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PAQR6|PAQR6|transcript|NM_001272109.1|protein_coding|2/5|c.-482C>T||||||,A|5_prime_UTR_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_024897.3|protein_coding|3/7|c.-260C>T|||||260|,A|5_prime_UTR_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272106.1|protein_coding|2/6|c.-342C>T|||||462|,A|5_prime_UTR_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272107.1|protein_coding|3/7|c.-260C>T|||||260|,A|5_prime_UTR_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272109.1|protein_coding|2/5|c.-482C>T|||||1255|,A|downstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199661.1|protein_coding||c.*3025G>A|||||2776|,A|downstream_gene_variant|MODIFIER|BGLAP|BGLAP|transcript|NM_199173.5|protein_coding||c.*2946G>A|||||2776|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding||c.*4479C>T|||||3116|,A|downstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199662.1|protein_coding||c.*3314G>A|||||2776|,A|downstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199663.1|protein_coding||c.*3025G>A|||||2776|,A|downstream_gene_variant|MODIFIER|PMF1-BGLAP|PMF1-BGLAP|transcript|NM_001199664.1|protein_coding||c.*3314G>A|||||2776|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding||c.*4479C>T|||||3116|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding||c.*4479C>T|||||3116|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding||c.*4479C>T|||||3116|,A|downstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding||c.*4479C>T|||||3116|,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272104.1|protein_coding|3/7|c.179+15C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272105.1|protein_coding|4/8|c.170+15C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272108.1|protein_coding|3/5|c.179+15C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272110.1|protein_coding|3/6|c.-362+15C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272111.1|protein_coding|3/6|c.-362+15C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272112.1|protein_coding|2/4|c.-265+15C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_001272113.1|protein_coding|3/4|c.-59+15C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NM_198406.2|protein_coding|3/7|c.179+15C>T||||||,A|intron_variant|MODIFIER|PAQR6|PAQR6|transcript|NR_073610.1|pseudogene|2/6|n.289+15C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2403;p3_1000G_AF=0.479832;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=14457;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156215899;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1803,2603;ESP6500_AA_AGE=635.2+/-396.3;ESP6500_AA_GTC=366,1071,766;ESP6500_CDS_SIZES=NM_198406.1:1035,NM_024897.2:1056;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=47;ESP6500_EA_AC=4359,4241;ESP6500_EA_AGE=568.6+/-389.0;ESP6500_EA_GTC=1103,2153,1044;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198406.1:intron,NM_024897.2:utr-5;ESP6500_GL=PAQR6;ESP6500_GRCh38_POSITION=1:156246108;ESP6500_GTC=1469,3224,1810;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198406.1:c.179+15C>T,NM_024897.2:c.-260C>T;ESP6500_MAF=49.314,40.9215,47.3781;ESP6500_TAC=6162,6844	GT:AD:DP:GQ:PL	0/1:11,9:20:99:197,0,280
chr1	156260638	rs12139321	A	G	162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.08;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0.329;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12139321;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding|14/21|c.2108-12T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|14/20|c.2108-12T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|13/20|c.1970-12T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|15/22|c.1910-12T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|15/22|c.1910-12T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=964;p3_1000G_AF=0.192492;p3_1000G_AFR_AF=0.0582;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=22624;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156230429;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=402,4004;ESP6500_AA_AGE=197.1+/-221.3;ESP6500_AA_GTC=19,364,1820;ESP6500_CDS_SIZES=NM_015327.2:3051;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=47;ESP6500_EA_AC=2456,6144;ESP6500_EA_AGE=389.8+/-343.1;ESP6500_EA_GTC=362,1732,2206;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015327.2:intron;ESP6500_GL=SMG5;ESP6500_GRCh38_POSITION=1:156260638;ESP6500_GTC=381,2096,4026;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015327.2:c.2108-12T>C;ESP6500_MAF=28.5581,9.1239,21.9745;ESP6500_TAC=2858,10148	GT:AD:DP:GQ:PL	0/1:17,7:24:99:191,0,489
chr1	156263352	rs2273832	A	G	584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.64;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-0.143;SOR=1.519;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273832;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding|13/21|c.2031+43T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|13/20|c.2031+43T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|12/20|c.1893+43T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|14/22|c.1833+43T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|14/22|c.1833+43T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=940;p3_1000G_AF=0.1877;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=18600;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.2644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156233143;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=337,4069;ESP6500_AA_AGE=170.9+/-201.2;ESP6500_AA_GTC=14,309,1880;ESP6500_CDS_SIZES=NM_015327.2:3051;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=2455,6145;ESP6500_EA_AGE=382.3+/-340.3;ESP6500_EA_GTC=364,1727,2209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015327.2:intron;ESP6500_GL=SMG5;ESP6500_GRCh38_POSITION=1:156263352;ESP6500_GTC=378,2036,4089;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015327.2:c.2031+43T>C;ESP6500_MAF=28.5465,7.6487,21.467;ESP6500_TAC=2792,10214	GT:AD:DP:GQ:PL	0/1:12,20:32:99:613,0,293
chr1	156263398	rs2273833	C	T	886.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.676;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.276;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273833;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|SMG5|SMG5|transcript|NM_015327.2|protein_coding|13/22|c.2028G>A|p.Ala676Ala|2177/4563|2028/3051|676/1016||,T|synonymous_variant|LOW|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|13/21|c.2028G>A|p.Ala676Ala|2238/4465|2028/2892|676/963||,T|synonymous_variant|LOW|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|12/21|c.1890G>A|p.Ala630Ala|2100/4486|1890/2913|630/970||,T|synonymous_variant|LOW|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|14/23|c.1830G>A|p.Ala610Ala|2370/4756|1830/2853|610/950||,T|synonymous_variant|LOW|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|14/23|c.1830G>A|p.Ala610Ala|2205/4591|1830/2853|610/950||;p3_1000G_AA=C|||;p3_1000G_AC=966;p3_1000G_AF=0.192891;p3_1000G_AFR_AF=0.0582;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=18271;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.2644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156233189;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=402,4004;ESP6500_AA_AGE=201.8+/-224.7;ESP6500_AA_GTC=19,364,1820;ESP6500_CDS_SIZES=NM_015327.2:3051;ESP6500_CG=-10.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=95;ESP6500_EA_AC=2463,6137;ESP6500_EA_AGE=405.6+/-348.5;ESP6500_EA_GTC=364,1735,2201;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015327.2:coding-synonymous;ESP6500_GL=SMG5;ESP6500_GRCh38_POSITION=1:156263398;ESP6500_GTC=383,2099,4021;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015327.2:c.2028G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015327.2:p.(A676);ESP6500_MAF=28.6395,9.1239,22.0283;ESP6500_TAC=2865,10141	GT:AD:DP:GQ:PL	0/1:21,37:58:99:915,0,588
chr1	156263517	rs61760175	G	A	418.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.132;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=2.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=0.549;SOR=1.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61760175;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|SMG5|SMG5|transcript|NM_015327.2|protein_coding|13/22|c.1909C>T|p.Arg637Trp|2058/4563|1909/3051|637/1016||,A|missense_variant|MODERATE|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|13/21|c.1909C>T|p.Arg637Trp|2119/4465|1909/2892|637/963||,A|missense_variant|MODERATE|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|12/21|c.1771C>T|p.Arg591Trp|1981/4486|1771/2913|591/970||,A|missense_variant|MODERATE|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|14/23|c.1711C>T|p.Arg571Trp|2251/4756|1711/2853|571/950||,A|missense_variant|MODERATE|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|14/23|c.1711C>T|p.Arg571Trp|2086/4591|1711/2853|571/950||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17710;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156233308;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,21:62:99:447,0,1066
chr1	156274768	rs12122180	G	A	343.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.56;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.981;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12122180;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding|4/21|c.455-82C>T||||||,A|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|4/20|c.455-82C>T||||||,A|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|4/20|c.455-82C>T||||||,A|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|5/22|c.257-82C>T||||||,A|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|5/22|c.257-82C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=986;p3_1000G_AF=0.196885;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=23277;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156244559;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:372,0,463
chr1	156277001	rs2277870	C	T	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.838;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.08;ReadPosRankSum=1;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2277870;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding|4/21|c.454+84G>A||||||,T|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|4/20|c.454+84G>A||||||,T|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|4/20|c.454+84G>A||||||,T|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|5/22|c.256+84G>A||||||,T|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|5/22|c.256+84G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1031;p3_1000G_AF=0.205871;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=21817;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156246792;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,15:23:99:467,0,232
chr1	156278818	rs10752615	T	C	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.28;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.563;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10752615;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene||n.-4095T>C|||||4095|,C|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding|2/21|c.173+118A>G||||||,C|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|2/20|c.173+118A>G||||||,C|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|2/20|c.173+118A>G||||||,C|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|3/22|c.-26+118A>G||||||,C|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|3/22|c.-26+118A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=986;p3_1000G_AF=0.196885;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=18534;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156248609;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,12:27:99:1|0:156278816_C_A:354,0,379
chr1	156279146	rs138501762	G	GGA	224.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.56;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=1.45;SOR=2.833;INS;HET;VARTYPE=INS;dbSNP138_ID=rs138501762;dbSNPBuildID=134;ANN=GGA|upstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene||n.-3767_-3766insGA|||||3766|,GGA|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding|1/21|c.75-114_75-113dupTC||||||,GGA|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|1/20|c.75-114_75-113dupTC||||||,GGA|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|1/20|c.75-114_75-113dupTC||||||,GGA|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|2/22|c.-124-114_-124-113dupTC||||||,GGA|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|2/22|c.-124-114_-124-113dupTC||||||;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17817;p3_1000G_EAS_AF=0.0387;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156248937;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,7:14:99:262,0,262
chr1	156282500	rs3806409	A	G	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.638;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.772;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806409;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding||c.-2727A>G|||||1779|,G|upstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene||n.-413A>G|||||413|,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding|1/21|c.74+107T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding|1/20|c.74+107T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding|1/20|c.74+107T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding|1/22|c.-257+107T>C||||||,G|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|2/22|c.-124-3466T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1036;p3_1000G_AF=0.206869;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=11884;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156252291;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:141,0,317
chr1	156285351	rs79735386	C	T	822.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.526;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-1.273;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79735386;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding|2/4|c.125C>T|p.Pro42Leu|296/2201|125/1185|42/394||,T|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding||c.-2671G>A|||||2522|,T|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding||c.-2671G>A|||||2461|,T|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding||c.-2671G>A|||||2461|,T|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding||c.-7328G>A|||||2461|,T|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|2/22|c.-125+1282G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene|2/4|n.321C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=10;p3_1000G_AF=0.00199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16511;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156255142;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,31:49:99:851,0,471
chr1	156285665	rs6684514	G	A	733.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.779;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.003;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.419;SOR=0.484;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6684514;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding|2/4|c.439G>A|p.Val147Met|610/2201|439/1185|147/394||,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding||c.-2985C>T|||||2836|,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding||c.-2985C>T|||||2775|,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding||c.-2985C>T|||||2775|,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding||c.-7642C>T|||||2775|,A|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|2/22|c.-125+968C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene|2/4|n.635G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1016;p3_1000G_AF=0.202875;p3_1000G_AFR_AF=0.0794;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=14706;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156255456;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=522,3884;ESP6500_AA_AGE=239.6+/-250.7;ESP6500_AA_GTC=29,464,1710;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20139978;ESP6500_CDS_SIZES=NM_032323.2:1185;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=61;ESP6500_EA_AC=2522,6078;ESP6500_EA_AGE=410.9+/-350.3;ESP6500_EA_GTC=385,1752,2163;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032323.2:missense;ESP6500_GL=TMEM79;ESP6500_GRCh38_POSITION=1:156285665;ESP6500_GS=21;ESP6500_GTC=414,2216,3873;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20139978;ESP6500_HGVS_CDNA_VAR=NM_032323.2:c.439G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032323.2:p.(V147M);ESP6500_MAF=29.3256,11.8475,23.4046;ESP6500_PH=benign:0.132;ESP6500_TAC=3044,9962	GT:AD:DP:GQ:PL	0/1:31,29:60:99:762,0,892
chr1	156285895	rs752012005	G	A	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.154;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=2.991;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.986;SOR=1.048;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|synonymous_variant|LOW|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding|2/4|c.669G>A|p.Pro223Pro|840/2201|669/1185|223/394||,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding||c.-3215C>T|||||3066|,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding||c.-3215C>T|||||3005|,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding||c.-3215C>T|||||3005|,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding||c.-7872C>T|||||3005|,A|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|2/22|c.-125+738C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene|2/4|n.865G>A||||||	GT:AD:DP:GQ:PL	0/1:17,15:32:99:339,0,510
chr1	156286042	rs2842883	G	C	562.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2842883;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding||c.-3362C>G|||||3213|,C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding||c.-3362C>G|||||3152|,C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding||c.-3362C>G|||||3152|,C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding||c.-8019C>G|||||3152|,C|intron_variant|MODIFIER|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding|2/3|c.757+59G>C||||||,C|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|2/22|c.-125+591C>G||||||,C|intron_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene|2/3|n.953+59G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4898;p3_1000G_AF=0.978035;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=15257;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156255833;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:591,54,0
chr1	156286209	rs6679145	T	C	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.06;ReadPosRankSum=1.72;SOR=2.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6679145;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_015327.2|protein_coding||c.-3529A>G|||||3380|,C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323614.1|protein_coding||c.-3529A>G|||||3319|,C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323615.1|protein_coding||c.-3529A>G|||||3319|,C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323616.1|protein_coding||c.-8186A>G|||||3319|,C|intron_variant|MODIFIER|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding|2/3|c.758-51T>C||||||,C|intron_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding|2/22|c.-125+424A>G||||||,C|intron_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene|2/3|n.954-51T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1034;p3_1000G_AF=0.20647;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=16168;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156256000;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=542,3864;ESP6500_AA_AGE=772.0+/-413.9;ESP6500_AA_GTC=32,478,1693;ESP6500_CDS_SIZES=NM_032323.2:1185;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=2523,6077;ESP6500_EA_AGE=690.1+/-404.4;ESP6500_EA_GTC=385,1753,2162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032323.2:intron;ESP6500_GL=TMEM79;ESP6500_GRCh38_POSITION=1:156286209;ESP6500_GTC=417,2231,3855;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032323.2:c.758-51T>C;ESP6500_MAF=29.3372,12.3014,23.566;ESP6500_TAC=3065,9941	GT:AD:DP:GQ:PL	0/1:2,10:12:35:389,0,35
chr1	156293306	rs10908494	A	G	836.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.42;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=5.559;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.546;SOR=0.489;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10908494;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding||c.-15283T>C|||||1808|,G|downstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding||c.*1708A>G|||||863|,G|downstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene||n.*863A>G|||||863|,G|intron_variant|MODIFIER|GLMP|GLMP|transcript|NM_144580.2|protein_coding|5/5|c.1055+14T>C||||||,G|intron_variant|MODIFIER|GLMP|GLMP|transcript|NM_001256604.1|protein_coding|5/5|c.908+14T>C||||||,G|intron_variant|MODIFIER|GLMP|GLMP|transcript|NM_001256605.1|protein_coding|4/4|c.797+14T>C||||||,G|intron_variant|MODIFIER|GLMP|GLMP|transcript|NM_001256608.1|protein_coding|4/4|c.799-97T>C||||||,G|intron_variant|MODIFIER|GLMP|GLMP|transcript|NM_001256609.1|protein_coding|5/5|c.812+14T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1034;p3_1000G_AF=0.20647;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=17824;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156263097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=543,3863;ESP6500_AA_AGE=774.1+/-414.0;ESP6500_AA_GTC=32,479,1692;ESP6500_CDS_SIZES=NM_144580.2:1221,NM_001256609.1:978,NM_001256608.1:996,NM_001256605.1:963,NM_001256604.1:1074;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=55;ESP6500_EA_AC=2519,6081;ESP6500_EA_AGE=692.2+/-404.6;ESP6500_EA_GTC=384,1751,2165;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144580.2:intron,NM_001256609.1:intron,NM_001256608.1:intron,NM_001256605.1:intron,NM_001256604.1:intron;ESP6500_GL=C1orf85;ESP6500_GRCh38_POSITION=1:156293306;ESP6500_GTC=416,2230,3857;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144580.2:c.1055+14T>C,NM_001256609.1:c.812+14T>C,NM_001256608.1:c.799-97T>C,NM_001256605.1:c.797+14T>C,NM_001256604.1:c.908+14T>C;ESP6500_MAF=29.2907,12.3241,23.543;ESP6500_TAC=3062,9944	GT:AD:DP:GQ:PL	0/1:25,30:55:99:865,0,595
chr1	156294149	rs10908495	T	C	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.15;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.891;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10908495;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_144580.2|protein_coding|4/6|c.667A>G|p.Ile223Val|711/1622|667/1221|223/406||,C|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256604.1|protein_coding|4/6|c.667A>G|p.Ile223Val|711/1475|667/1074|223/357||,C|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256605.1|protein_coding|3/5|c.409A>G|p.Ile137Val|453/1364|409/963|137/320||,C|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256608.1|protein_coding|4/5|c.667A>G|p.Ile223Val|711/1365|667/996|223/331||,C|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256609.1|protein_coding|4/6|c.424A>G|p.Ile142Val|940/1851|424/978|142/325||,C|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding||c.-16126A>G|||||2651|,C|downstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding||c.*2551T>C|||||1706|,C|downstream_gene_variant|MODIFIER|VHLL|VHLL|transcript|NM_001004319.2|protein_coding||c.*4621A>G|||||4475|,C|downstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene||n.*1706T>C|||||1706|;p3_1000G_AA=C|||;p3_1000G_AC=1034;p3_1000G_AF=0.20647;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=18007;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156263940;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=544,3862;ESP6500_AA_AGE=774.6+/-414.0;ESP6500_AA_GTC=33,478,1692;ESP6500_CDS_SIZES=NM_144580.2:1221,NM_001256609.1:978,NM_001256608.1:996,NM_001256605.1:963,NM_001256604.1:1074;ESP6500_CG=2.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=2522,6078;ESP6500_EA_AGE=693.0+/-404.6;ESP6500_EA_GTC=385,1752,2163;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144580.2:missense,NM_001256609.1:missense,NM_001256608.1:missense,NM_001256605.1:missense,NM_001256604.1:missense;ESP6500_GL=C1orf85;ESP6500_GRCh38_POSITION=1:156294149;ESP6500_GS=29,29,29,29,29;ESP6500_GTC=418,2230,3855;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144580.2:c.667A>G,NM_001256609.1:c.424A>G,NM_001256608.1:c.667A>G,NM_001256605.1:c.409A>G,NM_001256604.1:c.667A>G;ESP6500_HGVS_PROTEIN_VAR=NM_144580.2:p.(I223V),NM_001256609.1:p.(I142V),NM_001256608.1:p.(I223V),NM_001256605.1:p.(I137V),NM_001256604.1:p.(I223V);ESP6500_MAF=29.3256,12.3468,23.5737;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3066,9940	GT:AD:DP:GQ:PL	0/1:18,18:36:99:542,0,530
chr1	156294209	rs10908496	G	A	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.247;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.76;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10908496;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_144580.2|protein_coding|4/6|c.607C>T|p.Pro203Ser|651/1622|607/1221|203/406||,A|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256604.1|protein_coding|4/6|c.607C>T|p.Pro203Ser|651/1475|607/1074|203/357||,A|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256605.1|protein_coding|3/5|c.349C>T|p.Pro117Ser|393/1364|349/963|117/320||,A|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256608.1|protein_coding|4/5|c.607C>T|p.Pro203Ser|651/1365|607/996|203/331||,A|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256609.1|protein_coding|4/6|c.364C>T|p.Pro122Ser|880/1851|364/978|122/325||,A|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding||c.-16186C>T|||||2711|,A|downstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding||c.*2611G>A|||||1766|,A|downstream_gene_variant|MODIFIER|VHLL|VHLL|transcript|NM_001004319.2|protein_coding||c.*4561C>T|||||4415|,A|downstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene||n.*1766G>A|||||1766|;p3_1000G_AA=G|||;p3_1000G_AC=998;p3_1000G_AF=0.199281;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=19636;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156264000;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=423,3983;ESP6500_AA_AGE=206.2+/-227.9;ESP6500_AA_GTC=22,379,1802;ESP6500_CDS_SIZES=NM_144580.2:1221,NM_001256609.1:978,NM_001256608.1:996,NM_001256605.1:963,NM_001256604.1:1074;ESP6500_CG=4.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=2519,6081;ESP6500_EA_AGE=408.6+/-349.5;ESP6500_EA_GTC=381,1757,2162;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144580.2:missense,NM_001256609.1:missense,NM_001256608.1:missense,NM_001256605.1:missense,NM_001256604.1:missense;ESP6500_GL=C1orf85;ESP6500_GRCh38_POSITION=1:156294209;ESP6500_GS=74,74,74,74,74;ESP6500_GTC=403,2136,3964;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144580.2:c.607C>T,NM_001256609.1:c.364C>T,NM_001256608.1:c.607C>T,NM_001256605.1:c.349C>T,NM_001256604.1:c.607C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144580.2:p.(P203S),NM_001256609.1:p.(P122S),NM_001256608.1:p.(P203S),NM_001256605.1:p.(P117S),NM_001256604.1:p.(P203S);ESP6500_MAF=29.2907,9.6005,22.6203;ESP6500_PH=probably-damaging:0.959,probably-damaging:0.959,probably-damaging:0.959,probably-damaging:0.959,probably-damaging:0.959;ESP6500_TAC=2942,10064	GT:AD:DP:GQ:PL	0/1:22,14:36:99:348,0,635
chr1	156294857	rs1570805	C	T	715.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.623;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=5.483;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.18;SOR=0.516;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1570805;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_144580.2|protein_coding|2/6|c.280G>A|p.Val94Ile|324/1622|280/1221|94/406||,T|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256604.1|protein_coding|2/6|c.280G>A|p.Val94Ile|324/1475|280/1074|94/357||,T|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256608.1|protein_coding|2/5|c.280G>A|p.Val94Ile|324/1365|280/996|94/331||,T|missense_variant|MODERATE|GLMP|GLMP|transcript|NM_001256609.1|protein_coding|2/6|c.37G>A|p.Val13Ile|553/1851|37/978|13/325||,T|upstream_gene_variant|MODIFIER|SMG5|SMG5|transcript|NM_001323617.1|protein_coding||c.-16834G>A|||||3359|,T|downstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NM_032323.2|protein_coding||c.*3259C>T|||||2414|,T|downstream_gene_variant|MODIFIER|VHLL|VHLL|transcript|NM_001004319.2|protein_coding||c.*3913G>A|||||3767|,T|downstream_gene_variant|MODIFIER|TMEM79|TMEM79|transcript|NR_026678.1|pseudogene||n.*2414C>T|||||2414|,T|intron_variant|MODIFIER|GLMP|GLMP|transcript|NM_001256605.1|protein_coding|1/4|c.121-292G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=291;p3_1000G_AF=0.058107;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=17017;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0.1074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156264648;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=103,4303;ESP6500_AA_AGE=82.4+/-120.9;ESP6500_AA_GTC=1,101,2101;ESP6500_CDS_SIZES=NM_144580.2:1221,NM_001256609.1:978,NM_001256608.1:996,NM_001256605.1:963,NM_001256604.1:1074;ESP6500_CG=3.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=97;ESP6500_EA_AC=908,7692;ESP6500_EA_AGE=203.0+/-246.1;ESP6500_EA_GTC=51,806,3443;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144580.2:missense,NM_001256609.1:missense,NM_001256608.1:missense,NM_001256605.1:intron,NM_001256604.1:missense;ESP6500_GL=C1orf85;ESP6500_GRCh38_POSITION=1:156294857;ESP6500_GS=29,29,29,.,29;ESP6500_GTC=52,907,5544;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144580.2:c.280G>A,NM_001256609.1:c.37G>A,NM_001256608.1:c.280G>A,NM_001256605.1:c.121-292G>A,NM_001256604.1:c.280G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144580.2:p.(V94I),NM_001256609.1:p.(V13I),NM_001256608.1:p.(V94I),.,NM_001256604.1:p.(V94I);ESP6500_MAF=10.5581,2.3377,7.7733;ESP6500_PH=benign:0.189,benign:0.189,benign:0.189,.,benign:0.189;ESP6500_TAC=1011,11995	GT:AD:DP:GQ:PL	0/1:24,30:54:99:744,0,676
chr1	156309385	rs10908499	G	C	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.165;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.609;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10908499;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_005998.4|protein_coding|13/13|c.1534-82C>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|11/11|c.1420-82C>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|14/14|n.1927-82C>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|14/14|n.1878-82C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1033;p3_1000G_AF=0.20627;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=21209;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156279176;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:337,0,253
chr1	156310880	rs10908500	A	T	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.011;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.411;SOR=0.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10908500;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_005998.4|protein_coding|12/13|c.1401+70T>A||||||,T|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|10/11|c.1287+70T>A||||||,T|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|13/14|n.1794+70T>A||||||,T|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|13/14|n.1745+70T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1033;p3_1000G_AF=0.20627;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=19963;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.2694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156280671;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,17:25:99:442,0,215
chr1	156311178	rs2230195	G	A	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.931;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.409;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.327;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230195;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|CCT3|CCT3|transcript|NM_005998.4|protein_coding|12/14|c.1173C>T|p.Leu391Leu|1404/2107|1173/1638|391/545||,A|synonymous_variant|LOW|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|10/12|c.1059C>T|p.Leu353Leu|1290/1993|1059/1524|353/507||,A|non_coding_transcript_exon_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|13/15|n.1566C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|13/15|n.1517C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=370;p3_1000G_AF=0.0738818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=21134;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156280969;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,6,2197;ESP6500_CDS_SIZES=NM_005998.4:1638,NM_001008800.2:1524;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=68;ESP6500_EA_AC=11,8589;ESP6500_EA_AGE=7.7+/-29.5;ESP6500_EA_GTC=0,11,4289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005998.4:coding-synonymous,NM_001008800.2:coding-synonymous;ESP6500_GL=CCT3;ESP6500_GRCh38_POSITION=1:156311178;ESP6500_GTC=0,17,6486;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005998.4:c.1173C>T,NM_001008800.2:c.1059C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005998.4:p.(L391),NM_001008800.2:p.(L353);ESP6500_MAF=0.1279,0.1362,0.1307;ESP6500_TAC=17,12989	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,7:21:99:0|1:156311178_G_A:252,0,798
chr1	156311180	rs2230194	G	A	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.075;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.409;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.124;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230194;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|CCT3|CCT3|transcript|NM_005998.4|protein_coding|12/14|c.1171C>T|p.Leu391Phe|1402/2107|1171/1638|391/545||,A|missense_variant|MODERATE|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|10/12|c.1057C>T|p.Leu353Phe|1288/1993|1057/1524|353/507||,A|non_coding_transcript_exon_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|13/15|n.1564C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|13/15|n.1515C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=370;p3_1000G_AF=0.0738818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=21166;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156280971;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,6,2197;ESP6500_CDS_SIZES=NM_005998.4:1638,NM_001008800.2:1524;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=67;ESP6500_EA_AC=11,8589;ESP6500_EA_AGE=7.7+/-29.5;ESP6500_EA_GTC=0,11,4289;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005998.4:missense,NM_001008800.2:missense;ESP6500_GL=CCT3;ESP6500_GRCh38_POSITION=1:156311180;ESP6500_GS=22,22;ESP6500_GTC=0,17,6486;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005998.4:c.1171C>T,NM_001008800.2:c.1057C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005998.4:p.(L391F),NM_001008800.2:p.(L353F);ESP6500_MAF=0.1279,0.1362,0.1307;ESP6500_PH=probably-damaging:0.998,probably-damaging:0.998;ESP6500_TAC=17,12989	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,7:21:99:0|1:156311178_G_A:252,0,798
chr1	156311229	rs12132794	G	C	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.812;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.434;SOR=0.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12132794;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_005998.4|protein_coding|11/13|c.1156-34C>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|9/11|c.1042-34C>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|12/14|n.1549-34C>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|12/14|n.1500-34C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=985;p3_1000G_AF=0.196685;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=21273;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.2694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156281020;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=412,3994;ESP6500_AA_AGE=198.7+/-222.5;ESP6500_AA_GTC=20,372,1811;ESP6500_CDS_SIZES=NM_005998.4:1638,NM_001008800.2:1524;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=45;ESP6500_EA_AC=2519,6081;ESP6500_EA_AGE=407.8+/-349.3;ESP6500_EA_GTC=382,1755,2163;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005998.4:intron,NM_001008800.2:intron;ESP6500_GL=CCT3;ESP6500_GRCh38_POSITION=1:156311229;ESP6500_GTC=402,2127,3974;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005998.4:c.1156-34C>G,NM_001008800.2:c.1042-34C>G;ESP6500_MAF=29.2907,9.3509,22.5358;ESP6500_TAC=2931,10075	GT:AD:DP:GQ:PL	0/1:7,5:12:99:177,0,263
chr1	156317612	rs2296374	T	C	180.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.798;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=6.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-1.713;SOR=0.037;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296374;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_005998.4|protein_coding|8/13|c.760-65A>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|6/11|c.646-65A>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|9/14|n.1153-65A>G||||||,C|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|9/14|n.1104-65A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2281;p3_1000G_AF=0.455471;p3_1000G_AFR_AF=0.2882;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=19501;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.4642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156287403;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:209,0,280
chr1	156319115	rs371602601	G	GT	20.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.253;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=0.253;SOR=0.223;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GT|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_005998.4|protein_coding|7/13|c.610-99dupA||||||,GT|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|5/11|c.496-99dupA||||||,GT|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|8/14|n.1003-99dupA||||||,GT|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|8/14|n.954-99dupA||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:34:58,0,34
chr1	156337127	rs11264475	G	A	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.351;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=5.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=-1.076;SOR=1.775;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264475;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304826.1|protein_coding||c.-1613G>A|||||1465|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_144627.4|protein_coding||c.-2631G>A|||||187|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304817.1|protein_coding||c.-2631G>A|||||1313|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304818.1|protein_coding||c.-2631G>A|||||1313|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304822.1|protein_coding||c.-2631G>A|||||1313|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304823.1|protein_coding||c.-2631G>A|||||1313|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NR_130913.1|pseudogene||n.-1313G>A|||||1313|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304819.1|protein_coding||c.-2631G>A|||||1465|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304821.1|protein_coding||c.-2631G>A|||||1465|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304824.1|protein_coding||c.-2631G>A|||||1465|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304825.1|protein_coding||c.-2631G>A|||||1465|,A|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304820.1|protein_coding||c.-2631G>A|||||1775|,A|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_005998.4|protein_coding|1/13|c.31+1027C>T||||||,A|intron_variant|MODIFIER|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|1/11|c.31+1027C>T||||||,A|intron_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|2/14|n.375+550C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|2/15|n.376C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1030;p3_1000G_AF=0.205671;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=14872;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156306918;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,11:32:99:250,0,538
chr1	156338240	rs139949895;rs528258120;rs746269276	GGA	G	674.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.638;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.142;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.58;SOR=0.936;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs139949895;dbSNPBuildID=134,144,142;ANN=G|5_prime_UTR_variant|MODIFIER|CCT3|CCT3|transcript|NM_005998.4|protein_coding|1/14|c.-58_-57delTC|||||57|,G|5_prime_UTR_variant|MODIFIER|CCT3|CCT3|transcript|NM_001008800.2|protein_coding|1/12|c.-58_-57delTC|||||57|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304826.1|protein_coding||c.-499_-498delGA|||||351|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304817.1|protein_coding||c.-1517_-1516delGA|||||199|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304818.1|protein_coding||c.-1517_-1516delGA|||||199|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304822.1|protein_coding||c.-1517_-1516delGA|||||199|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304823.1|protein_coding||c.-1517_-1516delGA|||||199|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NR_130913.1|pseudogene||n.-199_-198delGA|||||199|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304819.1|protein_coding||c.-1517_-1516delGA|||||351|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304821.1|protein_coding||c.-1517_-1516delGA|||||351|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304824.1|protein_coding||c.-1517_-1516delGA|||||351|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304825.1|protein_coding||c.-1517_-1516delGA|||||351|,G|upstream_gene_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304820.1|protein_coding||c.-1517_-1516delGA|||||661|,G|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_144627.4|protein_coding|1/3|c.-125+700_-125+701delGA||||||INFO_REALIGN_3_PRIME,G|non_coding_transcript_exon_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene|1/15|n.174_175delTC||||||,G|non_coding_transcript_exon_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene|1/15|n.174_175delTC||||||;p3_1000G_AC=997;p3_1000G_AF=0.199081;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=17897;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156308031;p3_1000G_GRCH37_REF=GGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=INDEL;ESP6500_AA_AC=407,3779;ESP6500_AA_GTC=37,333,1723;ESP6500_CDS_SIZES=NM_144627.3:378,NM_005998.4:1638,NM_001008800.2:1524;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=51;ESP6500_EA_AC=2378,5764;ESP6500_EA_GTC=417,1544,2110;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144627.3:intron,NM_005998.4:utr-5,NM_001008800.2:utr-5;ESP6500_GL=CCT3,TSACC;ESP6500_GRCh38_POSITION=1:156338240;ESP6500_GTC=454,1877,3833;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_144627.3:c.-1517_-1516del2,NM_005998.4:c.-58_-57del2,NM_001008800.2:c.-58_-57del2;ESP6500_MAF=29.2066,9.7229,22.5909;ESP6500_TAC=2785,9543	GT:AD:DP:GQ:PL	0/1:25,21:46:99:712,0,833
chr1	156339581	rs2296375	G	C	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.842;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296375;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|CCT3|CCT3|transcript|NM_005998.4|protein_coding||c.-1397C>G|||||1166|,C|upstream_gene_variant|MODIFIER|CCT3|CCT3|transcript|NM_001008800.2|protein_coding||c.-1397C>G|||||1166|,C|upstream_gene_variant|MODIFIER|CCT3|CCT3|transcript|NR_036564.1|pseudogene||n.-1166C>G|||||1166|,C|upstream_gene_variant|MODIFIER|CCT3|CCT3|transcript|NR_036565.1|pseudogene||n.-1166C>G|||||1166|,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304826.1|protein_coding|1/3|c.32-154G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_144627.4|protein_coding|1/3|c.-124-53G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304817.1|protein_coding|1/3|c.-124-53G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304818.1|protein_coding|1/3|c.-23-154G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304822.1|protein_coding|1/3|c.-23-154G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304823.1|protein_coding|1/3|c.-124-53G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NR_130913.1|pseudogene|1/2|n.167-53G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304819.1|protein_coding|1/3|c.-23-154G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304821.1|protein_coding|1/3|c.-124-53G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304824.1|protein_coding|1/3|c.-23-154G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304825.1|protein_coding|1/3|c.-124-53G>C||||||,C|intron_variant|MODIFIER|TSACC|TSACC|transcript|NM_001304820.1|protein_coding|1/3|c.-23-154G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=965;p3_1000G_AF=0.192692;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=20784;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.2614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156309372;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:103,0,134
chr1	156371272	rs2985713	G	C	261.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.15;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2985713;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_020407.4|protein_coding|1/9|c.187+1836G>C||||||,C|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|1/10|c.-144+1836G>C||||||,C|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|2/10|c.97+18G>C||||||,C|intron_variant|MODIFIER|RHBG|RHBG|transcript|NR_046115.1|pseudogene|1/10|n.248+1836G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4204;p3_1000G_AF=0.839457;p3_1000G_AFR_AF=0.7663;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=16648;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.8966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156341063;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:290,21,0
chr1	156374587	rs779521235	AT	A	45.37	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-1.282;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72209478;dbSNPBuildID=144;ANN=A|splice_region_variant&intron_variant|LOW|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|1/10|c.-143-3delT||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|RHBG|RHBG|transcript|NR_046115.1|pseudogene|1/10|n.249-3delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_020407.4|protein_coding|1/9|c.188-2697delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|2/10|c.98-2697delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,4:5:8:82,0,8
chr1	156378043	rs11586833	T	A	871.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.341;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=1.891;MLEAC=1;MLEAF=0.5;MQ=59.79;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.258;SOR=0.985;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11586833;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_020407.4|protein_coding|3/10|c.428T>A|p.Val143Asp|489/1814|428/1377|143/458||,A|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|4/11|c.221T>A|p.Val74Asp|612/1937|221/1170|74/389||,A|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|4/11|c.338T>A|p.Val113Asp|562/1887|338/1287|113/428||,A|non_coding_transcript_exon_variant|MODIFIER|RHBG|RHBG|transcript|NR_046115.1|pseudogene|4/11|n.612T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1334;p3_1000G_AF=0.266374;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=13610;p3_1000G_EAS_AF=0.3472;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156347834;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=670,3528;ESP6500_AA_GTC=45,580,1474;ESP6500_CDS_SIZES=NM_020407.4:1378,NM_001256396.1:1288,NM_001256395.1:1171;ESP6500_CG=4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=70;ESP6500_EA_AC=1969,6473;ESP6500_EA_GTC=233,1503,2485;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020407.4:missense,NM_001256396.1:missense,NM_001256395.1:missense;ESP6500_GL=RHBG;ESP6500_GRCh38_POSITION=1:156378043;ESP6500_GS=152,152,152;ESP6500_GTC=278,2083,3959;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_020407.4:c.428T>A,NM_001256396.1:c.338T>A,NM_001256395.1:c.221T>A;ESP6500_HGVS_PROTEIN_VAR=NM_020407.4:p.(V143D),NM_001256396.1:p.(V113D),NM_001256395.1:p.(V74D);ESP6500_MAF=23.3239,15.96,20.8782;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=2639,10001	GT:AD:DP:GQ:PL	0/1:39,38:77:99:900,0,955
chr1	156381908	rs3748569	G	A	1552.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=0.813;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748569;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_020407.4|protein_coding|6/10|c.943G>A|p.Gly315Arg|1004/1814|943/1377|315/458||,A|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|7/11|c.736G>A|p.Gly246Arg|1127/1937|736/1170|246/389||,A|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|7/11|c.853G>A|p.Gly285Arg|1077/1887|853/1287|285/428||,A|non_coding_transcript_exon_variant|MODIFIER|RHBG|RHBG|transcript|NR_046115.1|pseudogene|7/11|n.1141G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2728;p3_1000G_AF=0.544728;p3_1000G_AFR_AF=0.5719;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=18935;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.4095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156351699;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4438;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2175,1959;ESP6500_AA_GTC=576,1023,468;ESP6500_CDS_SIZES=NM_020407.4:1378,NM_001256396.1:1288,NM_001256395.1:1171;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=103;ESP6500_EA_AC=3575,4831;ESP6500_EA_GTC=782,2011,1410;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020407.4:missense,NM_001256396.1:missense,NM_001256395.1:missense;ESP6500_GL=RHBG;ESP6500_GRCh38_POSITION=1:156381908;ESP6500_GS=125,125,125;ESP6500_GTC=1358,3034,1878;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020407.4:c.943G>A,NM_001256396.1:c.853G>A,NM_001256395.1:c.736G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020407.4:p.(G315R),NM_001256396.1:p.(G285R),NM_001256395.1:p.(G246R);ESP6500_MAF=42.5291,47.3875,45.8533;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=5750,6790	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1581,153,0
chr1	156382001	rs3748568	G	A	1581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748568;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_020407.4|protein_coding|6/9|c.978+58G>A||||||,A|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|7/10|c.771+58G>A||||||,A|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|7/10|c.888+58G>A||||||,A|intron_variant|MODIFIER|RHBG|RHBG|transcript|NR_046115.1|pseudogene|7/10|n.1176+58G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2689;p3_1000G_AF=0.536941;p3_1000G_AFR_AF=0.5431;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=19288;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156351792;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1610,159,0
chr1	156382656	rs954916	G	T	314.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.155;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.933;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=-0.886;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs954916;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_020407.4|protein_coding|7/9|c.1113-92G>T||||||,T|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|8/10|c.906-92G>T||||||,T|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|8/10|c.1023-92G>T||||||,T|intron_variant|MODIFIER|RHBG|RHBG|transcript|NR_046115.1|pseudogene|8/10|n.1311-92G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1525;p3_1000G_AF=0.304513;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=19376;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156352447;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,11:16:99:343,0,166
chr1	156384502	rs6668731	A	G	900.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.5;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.087;SOR=0.929;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6668731;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_020407.4|protein_coding|8/9|c.1235-25A>G||||||,G|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|9/10|c.1028-25A>G||||||,G|intron_variant|MODIFIER|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|9/10|c.1145-25A>G||||||,G|intron_variant|MODIFIER|RHBG|RHBG|transcript|NR_046115.1|pseudogene|9/10|n.1433-25A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2119;p3_1000G_AF=0.423123;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=18157;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.2396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156354293;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2076,1836;ESP6500_AA_GTC=555,966,435;ESP6500_CDS_SIZES=NM_020407.4:1378,NM_001256396.1:1288,NM_001256395.1:1171;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=57;ESP6500_EA_AC=2085,6193;ESP6500_EA_GTC=266,1553,2320;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020407.4:intron,NM_001256396.1:intron,NM_001256395.1:intron;ESP6500_GL=RHBG;ESP6500_GRCh38_POSITION=1:156384502;ESP6500_GTC=821,2519,2755;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020407.4:c.1235-25A>G,NM_001256396.1:c.1145-25A>G,NM_001256395.1:c.1028-25A>G;ESP6500_MAF=25.1872,46.9325,34.1345;ESP6500_TAC=4161,8029	GT:AD:DP:GQ:PL	0/1:26,32:58:99:929,0,582
chr1	156384556	rs1302729580;rs587735548;rs781799250	T	TC	645.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.611;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=2.006;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.886;SOR=0.483;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71591938;dbSNPBuildID=151,144,142;ANN=TC|frameshift_variant|HIGH|RHBG|RHBG|transcript|NM_020407.4|protein_coding|9/10|c.1271dupC|p.Asp425fs|1333/1814|1272/1377|424/458||INFO_REALIGN_3_PRIME,TC|frameshift_variant|HIGH|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|10/11|c.1064dupC|p.Asp356fs|1456/1937|1065/1170|355/389||INFO_REALIGN_3_PRIME,TC|frameshift_variant|HIGH|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|10/11|c.1181dupC|p.Asp395fs|1406/1887|1182/1287|394/428||INFO_REALIGN_3_PRIME,TC|non_coding_transcript_exon_variant|MODIFIER|RHBG|RHBG|transcript|NR_046115.1|pseudogene|10/11|n.1469dupC||||||INFO_REALIGN_3_PRIME;LOF=(RHBG|RHBG|4|0.75);p3_1000G_AC=10;p3_1000G_AF=0.003460214148198594;p3_1000G_AFR_AF=0.0020299416391778738;p3_1000G_AMR_AF=0.012155477031802118;p3_1000G_AN=2890;p3_1000G_DP=18146;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.002630194634402946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156354347;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0014954389113204726;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:38,29:67:99:683,0,959
chr1	156384575	rs6668857	A	G	2280.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=1.042;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6668857;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_020407.4|protein_coding|9/10|c.1283A>G|p.His428Arg|1344/1814|1283/1377|428/458||,G|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_001256395.1|protein_coding|10/11|c.1076A>G|p.His359Arg|1467/1937|1076/1170|359/389||,G|missense_variant|MODERATE|RHBG|RHBG|transcript|NM_001256396.1|protein_coding|10/11|c.1193A>G|p.His398Arg|1417/1887|1193/1287|398/428||,G|non_coding_transcript_exon_variant|MODIFIER|RHBG|RHBG|transcript|NR_046115.1|pseudogene|10/11|n.1481A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3671;p3_1000G_AF=0.733027;p3_1000G_AFR_AF=0.8956;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=18513;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.5149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156354367;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3441,611;ESP6500_AA_GTC=1456,529,41;ESP6500_CDS_SIZES=NM_020407.4:1378,NM_001256396.1:1288,NM_001256395.1:1171;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=4424,3942;ESP6500_EA_GTC=1201,2022,960;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020407.4:missense,NM_001256396.1:missense,NM_001256395.1:missense;ESP6500_GL=RHBG;ESP6500_GRCh38_POSITION=1:156384575;ESP6500_GS=29,29,29;ESP6500_GTC=2657,2551,1001;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020407.4:c.1284A>G,NM_001256396.1:c.1194A>G,NM_001256395.1:c.1077A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020407.4:p.(H428R),NM_001256396.1:p.(H398R),NM_001256395.1:p.(H359R);ESP6500_MAF=47.1193,15.079,36.6645;ESP6500_TAC=7865,4553	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2309,213,0
chr1	156404464	rs3431	C	T	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.532;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3431;dbSNPBuildID=36;ANN=T|3_prime_UTR_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_006365.2|protein_coding|7/7|c.*90G>A|||||90|,T|3_prime_UTR_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320454.1|protein_coding|4/4|c.*62G>A|||||62|,T|3_prime_UTR_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320455.1|protein_coding|4/4|c.*73G>A|||||73|,T|3_prime_UTR_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320453.1|protein_coding|5/5|c.*90G>A|||||90|,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135265.1|pseudogene|2/2|n.350G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135266.1|pseudogene|3/3|n.423G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135267.1|pseudogene|3/3|n.450G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135268.1|pseudogene|7/7|n.1068G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135260.1|pseudogene|4/4|n.486G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135261.1|pseudogene|5/5|n.571G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135262.1|pseudogene|3/3|n.386G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135263.1|pseudogene|5/5|n.620G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135264.1|pseudogene|6/6|n.738G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1196;p3_1000G_AF=0.238818;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=16957;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.2187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156374256;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:338,0,253
chr1	156404640	rs11455722	C	CT	77.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.732;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.77;ReadPosRankSum=-1.542;SOR=1.919;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11455722;dbSNPBuildID=131;ANN=CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_006365.2|protein_coding|6/6|c.424-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320454.1|protein_coding|3/3|c.255-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320455.1|protein_coding|3/3|c.206-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135265.1|pseudogene|1/1|n.213-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135266.1|pseudogene|2/2|n.286-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135267.1|pseudogene|2/2|n.313-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135268.1|pseudogene|6/6|n.931-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320453.1|protein_coding|4/4|c.172-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135260.1|pseudogene|3/3|n.349-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135261.1|pseudogene|4/4|n.434-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135262.1|pseudogene|2/2|n.249-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135263.1|pseudogene|4/4|n.483-40dupA||||||,CT|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135264.1|pseudogene|5/5|n.601-40dupA||||||;p3_1000G_AA=TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion;p3_1000G_AC=1042;p3_1000G_AF=0.208067;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=21413;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.0388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156374432;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,5:10:99:115,0,120
chr1	156416995	rs2296373	T	C	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296373;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|MIR9-1|MIR9-1|transcript|NR_029691.1|pseudogene||n.*3346A>G|||||3346|,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_006365.2|protein_coding|2/6|c.-25-131A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320454.1|protein_coding|1/3|c.21-2242A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320455.1|protein_coding|1/3|c.21-2242A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135265.1|pseudogene|1/1|n.212+4560A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135266.1|pseudogene|2/2|n.285+3431A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135267.1|pseudogene|1/2|n.213-2242A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135268.1|pseudogene|2/6|n.335+917A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NM_001320453.1|protein_coding|2/4|c.-25-131A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135260.1|pseudogene|2/3|n.249-2242A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135261.1|pseudogene|2/4|n.249-2242A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135262.1|pseudogene|2/2|n.248+9803A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135263.1|pseudogene|2/4|n.249-2242A>G||||||,C|intron_variant|MODIFIER|C1orf61|C1orf61|transcript|NR_135264.1|pseudogene|2/5|n.249-2242A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=905;p3_1000G_AF=0.180711;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=21176;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.0388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156386787;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:58:60,0,58
chr1	156476450	rs2274316	C	A	1556.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274316;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MEF2D|MEF2D|transcript|NM_005920.3|protein_coding|8/11|c.876+44G>T||||||,A|intron_variant|MODIFIER|MEF2D|MEF2D|transcript|NM_001271629.1|protein_coding|7/10|c.855+562G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2860;p3_1000G_AF=0.571086;p3_1000G_AFR_AF=0.236;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=22138;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.671;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156446242;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7147;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1386,3020;ESP6500_AA_AGE=445.1+/-347.6;ESP6500_AA_GTC=237,912,1054;ESP6500_CDS_SIZES=NM_005920.2:1566;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=125;ESP6500_EA_AC=5641,2959;ESP6500_EA_AGE=650.0+/-400.7;ESP6500_EA_GTC=1841,1959,500;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005920.2:intron;ESP6500_GL=MEF2D;ESP6500_GRCh38_POSITION=1:156476450;ESP6500_GTC=2078,2871,1554;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005920.2:c.876+44G>T;ESP6500_MAF=34.407,31.4571,45.9711;ESP6500_TAC=7027,5979	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1585,144,0
chr1	156476658	rs12131289	C	T	803.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12131289;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MEF2D|MEF2D|transcript|NM_005920.3|protein_coding|7/11|c.856-144G>A||||||,T|intron_variant|MODIFIER|MEF2D|MEF2D|transcript|NM_001271629.1|protein_coding|7/10|c.855+354G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2862;p3_1000G_AF=0.571486;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=19834;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.671;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156446450;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7147;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:832,84,0
chr1	156477111	rs2274317	T	C	1034.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.74;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274317;dbSNPBuildID=100;ANN=C|sequence_feature|MODERATE|MEF2D|MEF2D|compositionally-biased-region:Poly-Pro|NM_005920.3|protein_coding|7/12|c.756A>G||||||,C|sequence_feature|MODERATE|MEF2D|MEF2D|compositionally-biased-region:Poly-Pro|NM_001271629.1|protein_coding|7/11|c.756A>G||||||,C|synonymous_variant|LOW|MEF2D|MEF2D|transcript|NM_005920.3|protein_coding|7/12|c.756A>G|p.Pro252Pro|1251/5985|756/1566|252/521||,C|synonymous_variant|LOW|MEF2D|MEF2D|transcript|NM_001271629.1|protein_coding|7/11|c.756A>G|p.Pro252Pro|970/5683|756/1545|252/514||;p3_1000G_AA=T|||;p3_1000G_AC=2863;p3_1000G_AF=0.571685;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=16626;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156446903;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7147;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1389,3017;ESP6500_AA_AGE=458.6+/-352.0;ESP6500_AA_GTC=238,913,1052;ESP6500_CDS_SIZES=NM_005920.2:1566;ESP6500_CG=-8.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=5651,2949;ESP6500_EA_AGE=668.0+/-402.5;ESP6500_EA_GTC=1850,1951,499;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005920.2:coding-synonymous;ESP6500_GL=MEF2D;ESP6500_GRCh38_POSITION=1:156477111;ESP6500_GTC=2088,2864,1551;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005920.2:c.756A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005920.2:p.(P252);ESP6500_MAF=34.2907,31.5252,45.8711;ESP6500_TAC=7040,5966	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1063,108,0
chr1	156480948	rs1925950	G	A	2487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=0.867;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1925950;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|MEF2D|MEF2D|transcript|NM_005920.3|protein_coding|4/12|c.282C>T|p.Asn94Asn|777/5985|282/1566|94/521||,A|synonymous_variant|LOW|MEF2D|MEF2D|transcript|NM_001271629.1|protein_coding|4/11|c.282C>T|p.Asn94Asn|496/5683|282/1545|94/514||;p3_1000G_AA=G|||;p3_1000G_AC=2866;p3_1000G_AF=0.572284;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=14671;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.673;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156450740;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1385,3021;ESP6500_AA_AGE=437.0+/-344.8;ESP6500_AA_GTC=237,911,1055;ESP6500_CDS_SIZES=NM_005920.2:1566;ESP6500_CG=-1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=85;ESP6500_EA_AC=5655,2941;ESP6500_EA_AGE=642.9+/-399.9;ESP6500_EA_GTC=1854,1947,497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005920.2:coding-synonymous;ESP6500_GL=MEF2D;ESP6500_GRCh38_POSITION=1:156480948;ESP6500_GTC=2091,2858,1552;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005920.2:c.282C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005920.2:p.(N94);ESP6500_MAF=34.2136,31.4344,45.8545;ESP6500_TAC=7040,5962	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2516,254,0
chr1	156481081	rs2274319	T	C	1409.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274319;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MEF2D|MEF2D|transcript|NM_005920.3|protein_coding|3/11|c.259-110A>G||||||,C|intron_variant|MODIFIER|MEF2D|MEF2D|transcript|NM_001271629.1|protein_coding|3/10|c.259-110A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3264;p3_1000G_AF=0.651757;p3_1000G_AFR_AF=0.5265;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=10642;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156450873;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1438,126,0
chr1	156483078	rs2282286	G	A	763.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=4.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2282286;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MEF2D|MEF2D|transcript|NM_005920.3|protein_coding|2/11|c.54+161C>T||||||,A|intron_variant|MODIFIER|MEF2D|MEF2D|transcript|NM_001271629.1|protein_coding|2/10|c.54+161C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2864;p3_1000G_AF=0.571885;p3_1000G_AFR_AF=0.236;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=20053;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.673;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156452870;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:792,69,0
chr1	156526396	rs6427315	A	G	905.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.25;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427315;dbSNPBuildID=116;ANN=G|3_prime_UTR_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|38/38|c.*90T>C|||||90|;p3_1000G_AA=G|||;p3_1000G_AC=4699;p3_1000G_AF=0.938299;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=20640;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156496188;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:934,75,0
chr1	156528881	rs1171564	T	A	471.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=-0.547;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1171564;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|35/37|c.4571+35A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3004;p3_1000G_AF=0.59984;p3_1000G_AFR_AF=0.8472;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=20621;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156498673;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3225,1181;ESP6500_AA_AGE=415.4+/-337.2;ESP6500_AA_GTC=1177,871,155;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=65;ESP6500_EA_AC=2721,5879;ESP6500_EA_AGE=681.2+/-403.7;ESP6500_EA_GTC=453,1815,2032;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156528881;ESP6500_GTC=1630,2686,2187;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.4571+35A>T;ESP6500_MAF=31.6395,26.8044,45.7174;ESP6500_TAC=5946,7060	GT:AD:DP:GQ:PL	0/1:7,18:25:99:500,0,171
chr1	156530177	rs1171566	T	C	454.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.25;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=1.73;SOR=0.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1171566;dbSNPBuildID=87;ANN=C|synonymous_variant|LOW|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|34/38|c.4332A>G|p.Leu1444Leu|4407/6052|4332/4896|1444/1631||;p3_1000G_AA=C|||;p3_1000G_AC=3033;p3_1000G_AF=0.605631;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=406;p3_1000G_EAS_AF=0.6022;p3_1000G_EUR_AF=0.33;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156499969;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3226,1180;ESP6500_AA_AGE=404.0+/-332.9;ESP6500_AA_GTC=1179,868,156;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=48;ESP6500_EA_AC=2795,5805;ESP6500_EA_AGE=665.5+/-402.3;ESP6500_EA_GTC=475,1845,1980;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:coding-synonymous;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156530177;ESP6500_GTC=1654,2713,2136;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.4332A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178229.4:p.(L1444);ESP6500_MAF=32.5,26.7817,46.294;ESP6500_TAC=6021,6985	GT:AD:DP:GQ:PGT:PID:PL	0/1:38,18:56:99:1|0:156530159_C_A:483,0,962
chr1	156530336	rs746505	T	C	709.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.061;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=2.917;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.97;ReadPosRankSum=2.02;SOR=0.528;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs746505;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|33/37|c.4192-19A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2272;p3_1000G_AF=0.453674;p3_1000G_AFR_AF=0.5469;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=17763;p3_1000G_EAS_AF=0.5744;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156500128;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2150,2256;ESP6500_AA_AGE=526.7+/-371.9;ESP6500_AA_GTC=548,1054,601;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=34;ESP6500_EA_AC=1702,6898;ESP6500_EA_AGE=286.7+/-297.9;ESP6500_EA_GTC=176,1350,2774;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156530336;ESP6500_GTC=724,2404,3375;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.4192-19A>G;ESP6500_MAF=19.7907,48.7971,29.6171;ESP6500_TAC=3852,9154	GT:AD:DP:GQ:PL	0/1:56,33:89:99:738,0,1462
chr1	156533199	rs1609666	A	G	614.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.48;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.473;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=-1.004;SOR=2.461;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1609666;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|31/37|c.3977-93T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3127;p3_1000G_AF=0.624401;p3_1000G_AFR_AF=0.8517;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=23658;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.3777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156502991;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,18:31:99:643,0,366
chr1	156533749	rs6699212	T	C	493.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6699212;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|31/37|c.3976+24A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4946;p3_1000G_AF=0.98762;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20311;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156503541;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4229,177;ESP6500_AA_AGE=112.1+/-150.2;ESP6500_AA_GTC=2031,167,5;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156533749;ESP6500_GTC=6330,168,5;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.3976+24A>G;ESP6500_MAF=0.0116,4.0172,1.3686;ESP6500_TAC=12828,178	GT:AD:DP:GQ:PL	1/1:0,14:14:42:522,42,0
chr1	156535269	rs942965	C	T	695.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.524;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.085;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=2.48;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs942965;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|27/37|c.3423-22G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1836;p3_1000G_AF=0.366613;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=19024;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.1899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156505061;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1094,3312;ESP6500_AA_AGE=395.4+/-329.6;ESP6500_AA_GTC=147,800,1256;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=105;ESP6500_EA_AC=1688,6912;ESP6500_EA_AGE=309.4+/-309.4;ESP6500_EA_GTC=174,1340,2786;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156535269;ESP6500_GTC=321,2140,4042;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.3423-22G>A;ESP6500_MAF=19.6279,24.8298,21.3901;ESP6500_TAC=2782,10224	GT:AD:DP:GQ:PL	0/1:20,30:50:99:724,0,486
chr1	156539760	rs1171570	C	G	915.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.65;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1171570;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|24/37|c.2892+78G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4946;p3_1000G_AF=0.98762;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20817;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156509552;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:944,72,0
chr1	156548587	rs744224	G	A	880.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.184;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=2.22;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.249;SOR=0.448;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs744224;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|17/38|c.1987C>T|p.Arg663Cys|2062/6052|1987/4896|663/1631||;p3_1000G_AA=G|||;p3_1000G_AC=2039;p3_1000G_AF=0.407149;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=19167;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.2575;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156518379;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1316,3090;ESP6500_AA_AGE=443.9+/-347.2;ESP6500_AA_GTC=196,924,1083;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=115;ESP6500_EA_AC=2370,6230;ESP6500_EA_AGE=394.8+/-344.8;ESP6500_EA_GTC=341,1688,2271;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_178229.4:missense;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156548587;ESP6500_GS=180;ESP6500_GTC=537,2612,3354;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.1987C>T;ESP6500_HGVS_PROTEIN_VAR=NM_178229.4:p.(R663C);ESP6500_MAF=27.5581,29.8684,28.3408;ESP6500_PH=benign:0.003;ESP6500_TAC=3686,9320	GT:AD:DP:GQ:PL	0/1:22,37:59:99:909,0,557
chr1	156550381	rs1778819	T	A	875.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1778819;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|15/37|c.1735-30A>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=4948;p3_1000G_AF=0.988019;p3_1000G_AFR_AF=0.9554;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20222;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156520173;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA_AC=4242,164;ESP6500_AA_AGE=109.1+/-147.4;ESP6500_AA_GTC=2042,158,3;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=43;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156550381;ESP6500_GTC=6341,159,3;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.1735-30A>T;ESP6500_MAF=0.0116,3.7222,1.2686;ESP6500_TAC=12841,165	GT:AD:DP:GQ:PL	1/1:0,28:28:84:904,84,0
chr1	156554429	rs6694580	G	T	558.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.187;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.894;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-1.524;SOR=1.252;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6694580;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|12/37|c.1291-37C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1984;p3_1000G_AF=0.396166;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=18127;p3_1000G_EAS_AF=0.5367;p3_1000G_EUR_AF=0.3062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156524221;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1061,3345;ESP6500_AA_AGE=360.9+/-315.4;ESP6500_AA_GTC=136,789,1278;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=3.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=23;ESP6500_EA_AC=2656,5944;ESP6500_EA_AGE=395.7+/-345.2;ESP6500_EA_GTC=432,1792,2076;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156554429;ESP6500_GTC=568,2581,3354;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.1291-37C>A;ESP6500_MAF=30.8837,24.0808,28.5791;ESP6500_TAC=3717,9289	GT:AD:DP:GQ:PL	0/1:15,23:38:99:587,0,477
chr1	156554552	rs6686323	T	G	681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6686323;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|12/37|c.1291-160A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4808;p3_1000G_AF=0.960064;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=21020;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156524344;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:710,63,0
chr1	156556442	rs2489139	C	T	432.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2489139;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|12/37|c.1290+91G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4808;p3_1000G_AF=0.960064;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=21979;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156526234;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:461,42,0
chr1	156556595	rs11264498	C	G	463.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.392;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=1.65;SOR=0.379;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264498;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|12/38|c.1228G>C|p.Val410Leu|1303/6052|1228/4896|410/1631||;p3_1000G_AA=C|||;p3_1000G_AC=1894;p3_1000G_AF=0.378195;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=17223;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.6272;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156526387;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1045,3361;ESP6500_AA_AGE=383.5+/-324.9;ESP6500_AA_GTC=126,793,1284;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=5490,3110;ESP6500_EA_AGE=655.3+/-401.2;ESP6500_EA_GTC=1773,1944,583;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_178229.4:missense;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156556595;ESP6500_GS=32;ESP6500_GTC=1899,2737,1867;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.1228G>C;ESP6500_HGVS_PROTEIN_VAR=NM_178229.4:p.(V410L);ESP6500_MAF=36.1628,23.7177,49.754;ESP6500_PH=probably-damaging:0.994;ESP6500_TAC=6535,6471	GT:AD:DP:GQ:PL	0/1:12,18:30:99:492,0,381
chr1	156556652	rs2488269	T	C	743.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2488269;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|12/38|c.1171A>G|p.Arg391Gly|1246/6052|1171/4896|391/1631||;p3_1000G_AA=C|||;p3_1000G_AC=4808;p3_1000G_AF=0.960064;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=18359;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156526444;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3857,549;ESP6500_AA_AGE=231.4+/-245.2;ESP6500_AA_GTC=1695,467,41;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_178229.4:missense;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156556652;ESP6500_GS=125;ESP6500_GTC=5992,470,41;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.1171A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178229.4:p.(R391G);ESP6500_MAF=0.0349,12.4603,4.2442;ESP6500_PH=benign:0.0;ESP6500_TAC=12454,552	GT:AD:DP:GQ:PL	1/1:0,20:20:60:772,60,0
chr1	156556772	rs2489138	C	A	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.674;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2489138;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|11/37|c.1130-79G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1948;p3_1000G_AF=0.388978;p3_1000G_AFR_AF=0.1982;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=21780;p3_1000G_EAS_AF=0.5397;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156526564;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,4:8:99:0|1:156556772_C_A:156,0,302
chr1	156556773	rs114628977	C	T	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.674;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs114628977;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|11/37|c.1130-80G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=13;p3_1000G_AF=0.00259585;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=22000;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156526565;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,4:8:99:0|1:156556772_C_A:156,0,302
chr1	156562079	rs1171545	A	G	332.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1171545;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|9/37|c.878-78T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4807;p3_1000G_AF=0.959864;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16813;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156531871;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:361,33,0
chr1	156562552	rs7548309	T	G	458.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.314;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.387;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.125;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7548309;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|9/37|c.877+35A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2861;p3_1000G_AF=0.571286;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=19098;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.7127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156532344;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2797,1609;ESP6500_AA_AGE=497.7+/-363.9;ESP6500_AA_GTC=894,1009,300;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=131;ESP6500_EA_AC=6106,2494;ESP6500_EA_AGE=408.1+/-349.4;ESP6500_EA_GTC=2181,1744,375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156562552;ESP6500_GTC=3075,2753,675;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.877+35A>C;ESP6500_MAF=29.0,36.5184,31.547;ESP6500_TAC=8903,4103	GT:AD:DP:GQ:PL	0/1:16,19:35:99:487,0,389
chr1	156563116	rs16837492	C	A	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.399;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.623;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-0.45;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16837492;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|8/37|c.798+18G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2795;p3_1000G_AF=0.558107;p3_1000G_AFR_AF=0.5809;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=20114;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.7127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156532908;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2668,1738;ESP6500_AA_AGE=630.7+/-395.5;ESP6500_AA_GTC=808,1052,343;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=155;ESP6500_EA_AC=6103,2497;ESP6500_EA_AGE=686.8+/-404.2;ESP6500_EA_GTC=2179,1745,376;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156563116;ESP6500_GTC=2987,2797,719;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.798+18G>T;ESP6500_MAF=29.0349,39.4462,32.5619;ESP6500_TAC=8771,4235	GT:AD:DP:GQ:PL	0/1:13,12:25:99:256,0,401
chr1	156563185	rs1171547	T	C	1187.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.69;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1171547;dbSNPBuildID=87;ANN=C|synonymous_variant|LOW|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|8/38|c.747A>G|p.Gln249Gln|822/6052|747/4896|249/1631||;p3_1000G_AA=C|||;p3_1000G_AC=4807;p3_1000G_AF=0.959864;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=18701;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156532977;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3856,550;ESP6500_AA_AGE=247.5+/-255.7;ESP6500_AA_GTC=1693,470,40;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=114;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:coding-synonymous;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156563185;ESP6500_GTC=5990,473,40;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.747A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178229.4:p.(Q249);ESP6500_MAF=0.0349,12.483,4.2519;ESP6500_TAC=12453,553	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1216,120,0
chr1	156564733	rs4661184	A	C	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.73;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.88;ReadPosRankSum=1.02;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661184;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|4/37|c.361-42T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2514;p3_1000G_AF=0.501997;p3_1000G_AFR_AF=0.4168;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=18577;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.6968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156534525;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2081,2325;ESP6500_AA_AGE=570.2+/-382.8;ESP6500_AA_GTC=495,1091,617;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=55;ESP6500_EA_AC=5984,2616;ESP6500_EA_AGE=688.1+/-404.3;ESP6500_EA_GTC=2095,1794,411;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156564733;ESP6500_GTC=2590,2885,1028;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.361-42T>G;ESP6500_MAF=30.4186,47.231,37.9902;ESP6500_TAC=8065,4941	GT:AD:DP:GQ:PL	0/1:7,11:18:99:386,0,157
chr1	156564747	rs4661185	G	A	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.287;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=-0.425;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661185;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|4/37|c.361-56C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2791;p3_1000G_AF=0.557308;p3_1000G_AFR_AF=0.5809;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=18550;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156534539;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=857,527;ESP6500_AA_GTC=260,337,95;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=51;ESP6500_EA_AC=2249,933;ESP6500_EA_GTC=791,667,133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156564747;ESP6500_GTC=1051,1004,228;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.361-56C>T;ESP6500_MAF=29.3212,38.078,31.9755;ESP6500_TAC=3106,1460	GT:AD:DP:GQ:PL	0/1:6,11:17:99:324,0,170
chr1	156566331	rs2066378	T	C	1771.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.8;SOR=1.788;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2066378;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|3/37|c.282+59A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4807;p3_1000G_AF=0.959864;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=21685;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156536123;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:156566331_T_C:1800,120,0
chr1	156566341	rs4382715	A	G	1886.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4382715;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|3/37|c.282+49T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4807;p3_1000G_AF=0.959864;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=21722;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156536133;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3856,550;ESP6500_AA_AGE=245.0+/-254.1;ESP6500_AA_GTC=1693,470,40;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=39;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156566341;ESP6500_GTC=5989,474,40;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.282+49T>C;ESP6500_MAF=0.0465,12.483,4.2596;ESP6500_TAC=12452,554	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,44:44:99:1|1:156566331_T_C:1915,132,0
chr1	156566429	rs2066377	G	C	1731.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2066377;dbSNPBuildID=94;ANN=C|synonymous_variant|LOW|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|3/38|c.243C>G|p.Pro81Pro|318/6052|243/4896|81/1631||;p3_1000G_AA=G|||;p3_1000G_AC=4807;p3_1000G_AF=0.959864;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=19701;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156536221;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3856,550;ESP6500_AA_AGE=775.3+/-414.1;ESP6500_AA_GTC=1693,470,40;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=58;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=818.9+/-406.8;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_178229.4:coding-synonymous;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156566429;ESP6500_GTC=5990,473,40;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.243C>G;ESP6500_HGVS_PROTEIN_VAR=NM_178229.4:p.(P81);ESP6500_MAF=0.0349,12.483,4.2519;ESP6500_TAC=12453,553	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1760,162,0
chr1	156566459	rs947662	T	C	1848.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=1.159;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs947662;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|3/38|c.213A>G|p.Leu71Leu|288/6052|213/4896|71/1631||;p3_1000G_AA=C|||;p3_1000G_AC=4807;p3_1000G_AF=0.959864;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=19116;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156536251;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3856,550;ESP6500_AA_AGE=248.4+/-256.2;ESP6500_AA_GTC=1693,470,40;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=61;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:coding-synonymous;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156566459;ESP6500_GTC=5990,473,40;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.213A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178229.4:p.(L71);ESP6500_MAF=0.0349,12.483,4.2519;ESP6500_TAC=12453,553	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1877,165,0
chr1	156566561	rs947663	A	G	680.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs947663;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|2/37|c.126-15T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4807;p3_1000G_AF=0.959864;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=19046;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156536353;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3857,549;ESP6500_AA_AGE=245.0+/-254.1;ESP6500_AA_GTC=1694,469,40;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=38;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156566561;ESP6500_GTC=5991,472,40;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.126-15T>C;ESP6500_MAF=0.0349,12.4603,4.2442;ESP6500_TAC=12454,552	GT:AD:DP:GQ:PL	1/1:0,19:19:57:709,57,0
chr1	156569362	rs6427319	T	C	996.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.15;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427319;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|IQGAP3|IQGAP3|transcript|NM_178229.4|protein_coding|2/37|c.125+14A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4962;p3_1000G_AF=0.990815;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=13156;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156539154;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4287,119;ESP6500_AA_AGE=89.2+/-127.9;ESP6500_AA_GTC=2085,117,1;ESP6500_CDS_SIZES=NM_178229.4:4896;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=8578,22;ESP6500_EA_AGE=15.3+/-51.7;ESP6500_EA_GTC=4279,20,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178229.4:intron;ESP6500_GL=IQGAP3;ESP6500_GRCh38_POSITION=1:156569362;ESP6500_GTC=6364,137,2;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178229.4:c.125+14A>G;ESP6500_MAF=0.2558,2.7009,1.0841;ESP6500_TAC=12865,141	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1025,93,0
chr1	156582056	rs6682716	A	G	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.012;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=1.06;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6682716;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|TTC24|TTC24|transcript|NM_001105669.2|protein_coding|2/11|c.692A>G|p.Glu231Gly|728/2005|692/1749|231/582||;p3_1000G_AA=A|||;p3_1000G_AC=1753;p3_1000G_AF=0.35004;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=17940;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.7018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156551848;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=267,1113;ESP6500_AA_GTC=36,195,459;ESP6500_CDS_SIZES=NM_001105669.2:1749;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=2284,898;ESP6500_EA_GTC=832,620,139;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001105669.2:missense;ESP6500_GL=TTC24;ESP6500_GRCh38_POSITION=1:156582056;ESP6500_GS=98;ESP6500_GTC=868,815,598;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001105669.2:c.692A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001105669.2:p.(E231G);ESP6500_MAF=28.2212,19.3478,44.0815;ESP6500_TAC=2551,2011	GT:AD:DP:GQ:PL	0/1:3,14:17:38:312,0,38
chr1	156582919	rs12118894	C	G	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.566;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12118894;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TTC24|TTC24|transcript|NM_001105669.2|protein_coding|3/10|c.911-123C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1592;p3_1000G_AF=0.317891;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=15325;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156552711;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,3:7:99:0|1:156582919_C_G:108,0,150
chr1	156582928	rs6688600	T	G	323.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.77;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6688600;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TTC24|TTC24|transcript|NM_001105669.2|protein_coding|3/10|c.911-114T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4555;p3_1000G_AF=0.909545;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=15161;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.9583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156552720;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:156582919_C_G:352,24,0
chr1	156583310	rs34924172;rs397776320	AG	A	359.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.908;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.71;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.105;SOR=0.952;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34924172;dbSNPBuildID=137,138;ANN=A|intron_variant|MODIFIER|TTC24|TTC24|transcript|NM_001105669.2|protein_coding|4/10|c.1040-26delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|GG|G|deletion;p3_1000G_AC=1590;p3_1000G_AF=0.317492;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=15903;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156553102;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=INDEL;ESP6500_AA_AC=437,3397;ESP6500_AA_GTC=37,363,1517;ESP6500_CDS_SIZES=NM_001105669.2:1749;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=29;ESP6500_EA_AC=1877,6065;ESP6500_EA_GTC=244,1389,2338;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001105669.2:intron;ESP6500_GL=TTC24;ESP6500_GRCh38_POSITION=1:156583310;ESP6500_GTC=281,1752,3855;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001105669.2:c.1040-27del1;ESP6500_MAF=23.6338,11.398,19.6501;ESP6500_TAC=2314,9462	GT:AD:DP:GQ:PL	0/1:17,13:30:99:397,0,545
chr1	156583970	rs11264502	A	C	485.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11264502;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TTC24|TTC24|transcript|NM_001105669.2|protein_coding|6/10|c.1251+75A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4555;p3_1000G_AF=0.909545;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=15046;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.9583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156553762;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:514,39,0
chr1	156586529	rs10796961	G	A	1628.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10796961;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|TTC24|TTC24|transcript|NM_001105669.2|protein_coding|11/11|c.1728G>A|p.Ser576Ser|1764/2005|1728/1749|576/582||;p3_1000G_AA=g|||;p3_1000G_AC=3846;p3_1000G_AF=0.767971;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=17485;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.9573;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156556321;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA_AC=1854,2270;ESP6500_AA_GTC=441,972,649;ESP6500_CDS_SIZES=NM_001105669.2:1749;ESP6500_CG=-4.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=57;ESP6500_EA_AC=8134,282;ESP6500_EA_GTC=3931,272,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001105669.2:coding-synonymous;ESP6500_GL=TTC24;ESP6500_GRCh38_POSITION=1:156586529;ESP6500_GTC=4372,1244,654;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001105669.2:c.1728G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001105669.2:p.(S576);ESP6500_MAF=3.3508,44.9564,20.3509;ESP6500_TAC=9988,2552	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1657,156,0
chr1	156591765	rs149629319	G	GGGGTCGGGCC	152.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.46;ReadPosRankSum=0.674;SOR=1.872;INS;HET;VARTYPE=INS;dbSNP138_ID=rs149629319;dbSNPBuildID=134;ANN=GGGGTCGGGCC|5_prime_UTR_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding|1/6|c.-37_-36insTCGGGCCGGG|||||36|INFO_REALIGN_3_PRIME,GGGGTCGGGCC|downstream_gene_variant|MODIFIER|TTC24|TTC24|transcript|NM_001105669.2|protein_coding||c.*5215_*5216insGGGTCGGGCC|||||4996|,GGGGTCGGGCC|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*3447_*3448insGGCCCGACCC|||||2542|,GGGGTCGGGCC|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*3447_*3448insGGCCCGACCC|||||2542|;ESP6500_AA_AC=51,68,117;ESP6500_AA_GTC=25,1,0,33,1,58;ESP6500_CDS_SIZES=NM_144772.2:867,NM_144772.2:867;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=1;ESP6500_EA_AC=241,94,203;ESP6500_EA_GTC=120,0,1,46,2,100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144772.2:utr-5,NM_144772.2:utr-5;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156591765;ESP6500_GTC=145,1,1,79,3,158;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_144772.2:NA,NM_144772.2:NA;ESP6500_MAF=55.2045,50.4237,58.6563;ESP6500_TAC=292,162,320	GT:AD:DP:GQ:PL	0/1:1,5:6:24:190,0,24
chr1	156591859	rs7516274	G	C	662.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7516274;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|NAXE|NAXE|transcript|NM_144772.2|protein_coding|1/6|c.55G>C|p.Val19Leu|94/1121|55/867|19/288||,C|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*3354C>G|||||2449|,C|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*3354C>G|||||2449|;p3_1000G_AA=C|||;p3_1000G_AC=4651;p3_1000G_AF=0.928714;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=9107;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156561651;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3616,452;ESP6500_AA_GTC=1602,412,20;ESP6500_CDS_SIZES=NM_144772.2:867;ESP6500_CG=1.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=7986,188;ESP6500_EA_GTC=3903,180,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144772.2:missense;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156591859;ESP6500_GS=32;ESP6500_GTC=5505,592,24;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_144772.2:c.55G>C;ESP6500_HGVS_PROTEIN_VAR=NM_144772.2:p.(V19L);ESP6500_MAF=2.3,11.1111,5.2279;ESP6500_PH=benign:0.0;ESP6500_TAC=11602,640	GT:AD:DP:GQ:PL	1/1:0,22:22:66:691,66,0
chr1	156592216	rs1925949	G	A	2237.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=1.117;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1925949;dbSNPBuildID=92;ANN=A|splice_region_variant&intron_variant|LOW|NAXE|NAXE|transcript|NM_144772.2|protein_coding|2/5|c.291+7G>A||||||,A|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*2997C>T|||||2092|,A|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*2997C>T|||||2092|;p3_1000G_AA=G|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=16822;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156562008;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3779,627;ESP6500_AA_AGE=767.2+/-413.5;ESP6500_AA_GTC=1613,553,37;ESP6500_CDS_SIZES=NM_144772.2:867;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=57;ESP6500_EA_AC=8338,262;ESP6500_EA_AGE=807.7+/-407.2;ESP6500_EA_GTC=4043,252,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144772.2:intron;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156592216;ESP6500_GTC=5656,805,42;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144772.2:c.291+7G>A;ESP6500_MAF=3.0465,14.2306,6.8353;ESP6500_TAC=12117,889	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2266,213,0
chr1	156592351	rs942959	G	A	1016.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs942959;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*2862C>T|||||1957|,A|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*2862C>T|||||1957|,A|intron_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding|2/5|c.292-14G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=17063;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156562143;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3779,627;ESP6500_AA_AGE=767.2+/-413.5;ESP6500_AA_GTC=1613,553,37;ESP6500_CDS_SIZES=NM_144772.2:867;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=62;ESP6500_EA_AC=8340,260;ESP6500_EA_AGE=807.3+/-407.2;ESP6500_EA_GTC=4045,250,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144772.2:intron;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156592351;ESP6500_GTC=5658,803,42;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144772.2:c.292-14G>A;ESP6500_MAF=3.0233,14.2306,6.8199;ESP6500_TAC=12119,887	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1045,99,0
chr1	156593359	.	C	G	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.151;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=1.41;SOR=0.269;SNP;HET;VARTYPE=SNP;ANN=G|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*1854G>C|||||949|,G|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*1854G>C|||||949|,G|intron_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding|4/5|c.517-49C>G||||||	GT:AD:DP:GQ:PL	0/1:20,5:25:99:137,0,734
chr1	156593583	rs6427321	G	A	1220.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=2.964;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427321;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*1630C>T|||||725|,A|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*1630C>T|||||725|,A|intron_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding|5/5|c.664+28G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=19750;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156563375;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3779,627;ESP6500_AA_AGE=766.9+/-413.5;ESP6500_AA_GTC=1613,553,37;ESP6500_CDS_SIZES=NM_144772.2:867;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=8340,260;ESP6500_EA_AGE=807.5+/-407.2;ESP6500_EA_GTC=4045,250,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144772.2:intron;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156593583;ESP6500_GTC=5658,803,42;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144772.2:c.664+28G>A;ESP6500_MAF=3.0233,14.2306,6.8199;ESP6500_TAC=12119,887	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1249,105,0
chr1	156593669	rs117805085	A	T	245.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=0.464;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117805085;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*1544T>A|||||639|,T|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*1544T>A|||||639|,T|intron_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding|5/5|c.664+114A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=51;p3_1000G_AF=0.0101837;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19540;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156563461;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:274,0,109
chr1	156593934	rs6427322	A	C	1203.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.87;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427322;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|NAXE|NAXE|transcript|NM_144772.2|protein_coding|6/6|c.717A>C|p.Ile239Ile|756/1121|717/867|239/288||,C|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*1279T>G|||||374|,C|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*1279T>G|||||374|;p3_1000G_AA=C|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=18817;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156563726;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3779,627;ESP6500_AA_AGE=272.8+/-271.0;ESP6500_AA_GTC=1613,553,37;ESP6500_CDS_SIZES=NM_144772.2:867;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=114;ESP6500_EA_AC=8340,260;ESP6500_EA_AGE=101.2+/-162.5;ESP6500_EA_GTC=4045,250,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144772.2:coding-synonymous;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156593934;ESP6500_GTC=5658,803,42;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_144772.2:c.717A>C;ESP6500_HGVS_PROTEIN_VAR=NM_144772.2:p.(I239);ESP6500_MAF=3.0233,14.2306,6.8199;ESP6500_TAC=12119,887	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1232,117,0
chr1	156594021	rs6668178	G	A	1317.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.04;SOR=0.919;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6668178;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|NAXE|NAXE|transcript|NM_144772.2|protein_coding|6/6|c.804G>A|p.Glu268Glu|843/1121|804/867|268/288||,A|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*1192C>T|||||287|,A|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*1192C>T|||||287|;p3_1000G_AA=A|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=17764;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156563813;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3779,627;ESP6500_AA_AGE=271.9+/-270.5;ESP6500_AA_GTC=1613,553,37;ESP6500_CDS_SIZES=NM_144772.2:867;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=91;ESP6500_EA_AC=8340,260;ESP6500_EA_AGE=101.2+/-162.5;ESP6500_EA_GTC=4045,250,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144772.2:coding-synonymous;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156594021;ESP6500_GTC=5658,803,42;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144772.2:c.804G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144772.2:p.(E268);ESP6500_MAF=3.0233,14.2306,6.8199;ESP6500_TAC=12119,887	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1346,140,0
chr1	156594060	rs942963	C	T	1144.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs942963;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|NAXE|NAXE|transcript|NM_144772.2|protein_coding|6/6|c.843C>T|p.Thr281Thr|882/1121|843/867|281/288||,T|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*1153G>A|||||248|,T|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*1153G>A|||||248|;p3_1000G_AA=C|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=19007;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156563852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3779,627;ESP6500_AA_AGE=764.5+/-413.3;ESP6500_AA_GTC=1613,553,37;ESP6500_CDS_SIZES=NM_144772.2:867;ESP6500_CG=-10.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=75;ESP6500_EA_AC=8340,260;ESP6500_EA_AGE=803.5+/-407.3;ESP6500_EA_GTC=4045,250,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144772.2:coding-synonymous;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156594060;ESP6500_GTC=5658,803,42;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144772.2:c.843C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144772.2:p.(T281);ESP6500_MAF=3.0233,14.2306,6.8199;ESP6500_TAC=12119,887	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1173,123,0
chr1	156594106	rs1270	T	C	629.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1270;dbSNPBuildID=36;ANN=C|3_prime_UTR_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding|6/6|c.*22T>C|||||22|,C|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding||c.*1107A>G|||||202|,C|downstream_gene_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding||c.*1107A>G|||||202|;p3_1000G_AA=T|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=17814;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156563898;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3758,648;ESP6500_AA_AGE=752.5+/-412.3;ESP6500_AA_GTC=1613,532,58;ESP6500_CDS_SIZES=NM_144772.2:867;ESP6500_CG=0.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=42;ESP6500_EA_AC=8333,267;ESP6500_EA_AGE=801.7+/-407.4;ESP6500_EA_GTC=4045,243,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144772.2:utr-3;ESP6500_GL=APOA1BP;ESP6500_GRCh38_POSITION=1:156594106;ESP6500_GTC=5658,775,70;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144772.2:c.*22T>C;ESP6500_MAF=3.1047,14.7072,7.0352;ESP6500_TAC=12091,915	GT:AD:DP:GQ:PL	1/1:0,20:20:60:658,60,0
chr1	156595130	rs3795733	C	T	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.105;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=2.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.459;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795733;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding|8/8|c.*83G>A|||||83|,T|3_prime_UTR_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding|8/8|c.*83G>A|||||83|,T|downstream_gene_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding||c.*1046C>T|||||831|;p3_1000G_AA=C|||;p3_1000G_AC=2181;p3_1000G_AF=0.435503;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=22501;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.7048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156564922;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,15:31:99:494,0,524
chr1	156595257	rs72559129;rs112595382	A	AAC	4938.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=1.274;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs72559129;dbSNPBuildID=130;ANN=AAC|frameshift_variant|HIGH|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding|8/8|c.1083_1084insGT|p.Phe362fs|1131/2081|1083/1128|361/375||,AAC|frameshift_variant|HIGH|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding|8/8|c.1068_1069insGT|p.Phe357fs|1205/2155|1068/1113|356/370||,AAC|downstream_gene_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding||c.*1173_*1174insAC|||||959|;p3_1000G_AC=4979;p3_1000G_AF=0.994209;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=24315;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156565049;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4186,80;ESP6500_AA_GTC=2053,80,0;ESP6500_CDS_SIZES=NM_182679.2:1113,NM_015590.3:1128;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=192;ESP6500_EA_AC=8225,29;ESP6500_EA_GTC=4098,29,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182679.2:frameshift,NM_015590.3:frameshift;ESP6500_GL=GPATCH4;ESP6500_GRCh38_POSITION=1:156595257;ESP6500_GTC=6151,109,0;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_182679.2:c.1068_1069insGT,NM_015590.3:c.1083_1084insGT;ESP6500_HGVS_PROTEIN_VAR=NM_182679.2:p.(F357Vfs*91),NM_015590.3:p.(F362Vfs*91);ESP6500_MAF=0.3513,1.8753,0.8706;ESP6500_TAC=12411,109	GT:AD:DP:GQ:PL	1/1:0,110:110:99:4976,337,0
chr1	156596042	rs12024215	G	C	632.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.099;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.659;SOR=0.968;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12024215;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|NAXE|NAXE|transcript|NM_144772.2|protein_coding||c.*1958G>C|||||1743|,C|intron_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_015590.3|protein_coding|7/7|c.491+39C>G||||||,C|intron_variant|MODIFIER|GPATCH4|GPATCH4|transcript|NM_182679.2|protein_coding|7/7|c.476+39C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1590;p3_1000G_AF=0.317492;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=20146;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.2445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156565834;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=523,3883;ESP6500_AA_AGE=238.0+/-249.6;ESP6500_AA_GTC=27,469,1707;ESP6500_CDS_SIZES=NM_182679.2:1113,NM_015590.3:1128;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=105;ESP6500_EA_AC=2078,6522;ESP6500_EA_AGE=358.5+/-331.2;ESP6500_EA_GTC=252,1574,2474;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182679.2:intron,NM_015590.3:intron;ESP6500_GL=GPATCH4;ESP6500_GRCh38_POSITION=1:156596042;ESP6500_GTC=279,2043,4181;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_182679.2:c.476+39C>G,NM_015590.3:c.491+39C>G;ESP6500_MAF=24.1628,11.8702,19.9985;ESP6500_TAC=2601,10405	GT:AD:DP:GQ:PL	0/1:23,24:47:99:661,0,705
chr1	156624864	rs12567958	C	A	241.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12567958;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|LOC101928177|LOC101928177|transcript|NR_135113.1|pseudogene||n.-2936G>T|||||2936|,A|intron_variant|MODIFIER|HAPLN2|HAPLN2|transcript|NM_021817.2|protein_coding|6/6|c.739+81C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2330;p3_1000G_AF=0.465256;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=7813;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.7107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156594656;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:270,24,0
chr1	156652886	rs572158127	G	A	1164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.92;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.4;SOR=0.737;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|missense_variant|MODERATE|BCAN|BCAN|transcript|NM_021948.4|protein_coding|8/14|c.1936G>A|p.Ala646Thr|2272/3470|1936/2736|646/911||,A|missense_variant|MODERATE|BCAN|BCAN|transcript|NM_198427.1|protein_coding|8/8|c.1936G>A|p.Ala646Thr|2272/2858|1936/2016|646/671||,A|sequence_feature|LOW|BCAN|BCAN|domain:EGF-like|NM_021948.4|protein_coding|8/14|c.1936G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16941;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156622678;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,48:80:99:1193,0,745
chr1	156657128	rs7524611	T	C	1020.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.59;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7524611;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|BCAN|BCAN|transcript|NM_198427.1|protein_coding||c.*4162T>C|||||3656|,C|intron_variant|MODIFIER|BCAN|BCAN|transcript|NM_021948.4|protein_coding|10/13|c.2209+32T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17250;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156626920;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1049,111,0
chr1	156669961	rs11582300	G	A	1841.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=0.726;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11582300;dbSNPBuildID=120;ANN=A|sequence_feature|MODERATE|NES|NES|modified-residue:phosphoserine|NM_006617.1|protein_coding|4/4|c.4227C>T||||||,A|synonymous_variant|LOW|NES|NES|transcript|NM_006617.1|protein_coding|4/4|c.4227C>T|p.Ser1409Ser|4360/5558|4227/4866|1409/1621||;p3_1000G_AA=G|||;p3_1000G_AC=3097;p3_1000G_AF=0.618411;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=15954;p3_1000G_EAS_AF=0.8611;p3_1000G_EUR_AF=0.6312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156639753;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1758,2648;ESP6500_AA_GTC=355,1048,800;ESP6500_CDS_SIZES=NM_006617.1:4866;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=23;ESP6500_EA_AC=5323,3269;ESP6500_EA_GTC=1696,1931,669;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006617.1:coding-synonymous;ESP6500_GL=NES;ESP6500_GRCh38_POSITION=1:156669961;ESP6500_GTC=2051,2979,1469;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006617.1:c.4227C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006617.1:p.(S1409);ESP6500_MAF=38.047,39.9001,45.5224;ESP6500_TAC=7081,5917	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,59:59:99:1|1:156669944_T_C:1870,177,0
chr1	156670364	rs3748570	G	A	1810.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.77;SOR=1.342;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748570;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|NES|NES|transcript|NM_006617.1|protein_coding|4/4|c.3824C>T|p.Pro1275Leu|3957/5558|3824/4866|1275/1621||;p3_1000G_AA=A|||;p3_1000G_AC=3628;p3_1000G_AF=0.724441;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=18440;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156640156;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3055,1351;ESP6500_AA_AGE=450.2+/-349.3;ESP6500_AA_GTC=1044,967,192;ESP6500_CDS_SIZES=NM_006617.1:4866;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=83;ESP6500_EA_AC=5527,3073;ESP6500_EA_AGE=469.3+/-367.5;ESP6500_EA_GTC=1817,1893,590;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006617.1:missense;ESP6500_GL=NES;ESP6500_GRCh38_POSITION=1:156670364;ESP6500_GS=98;ESP6500_GTC=2861,2860,782;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006617.1:c.3824C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006617.1:p.(P1275L);ESP6500_MAF=35.7326,30.6627,34.0151;ESP6500_PH=benign:0.0;ESP6500_TAC=8582,4424	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1839,171,0
chr1	156670886	rs2886443	G	A	388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.77;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2886443;dbSNPBuildID=101;ANN=A|missense_variant|MODERATE|NES|NES|transcript|NM_006617.1|protein_coding|4/4|c.3302C>T|p.Pro1101Leu|3435/5558|3302/4866|1101/1621||;p3_1000G_AA=G|||;p3_1000G_AC=3116;p3_1000G_AF=0.622204;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=11968;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.6481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156640678;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1788,2592;ESP6500_AA_GTC=377,1034,779;ESP6500_CDS_SIZES=NM_006617.1:4866;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=21;ESP6500_EA_AC=5445,3117;ESP6500_EA_GTC=1815,1815,651;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006617.1:missense;ESP6500_GL=NES;ESP6500_GRCh38_POSITION=1:156670886;ESP6500_GS=98;ESP6500_GTC=2192,2849,1430;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006617.1:c.3302C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006617.1:p.(P1101L);ESP6500_MAF=36.405,40.8219,44.1122;ESP6500_PH=benign:0.001;ESP6500_TAC=7233,5709	GT:AD:DP:GQ:PL	1/1:0,14:14:41:417,41,0
chr1	156676876	rs4278369	A	G	1157.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=1.209;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4278369;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|NES|NES|transcript|NM_006617.1|protein_coding|1/4|c.389T>C|p.Val130Ala|522/5558|389/4866|130/1621||;p3_1000G_AA=G|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=10161;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156646668;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2882,16;ESP6500_AA_GTC=1433,16,0;ESP6500_CDS_SIZES=NM_006617.1:4866;ESP6500_CG=1.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=4;ESP6500_EA_AC=6151,1;ESP6500_EA_GTC=3075,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006617.1:missense;ESP6500_GL=NES;ESP6500_GRCh38_POSITION=1:156676876;ESP6500_GS=64;ESP6500_GTC=4508,17,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006617.1:c.389T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006617.1:p.(V130A);ESP6500_MAF=0.0163,0.5521,0.1878;ESP6500_PH=benign:0.0;ESP6500_TAC=9033,17	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1186,108,0
chr1	156700753	rs4661213	C	T	530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4661213;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CRABP2|CRABP2|transcript|NM_001199723.1|protein_coding|3/4|c.250-95G>A||||||,T|intron_variant|MODIFIER|CRABP2|CRABP2|transcript|NM_001878.3|protein_coding|2/3|c.250-95G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4573;p3_1000G_AF=0.913139;p3_1000G_AFR_AF=0.7352;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=20161;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9732;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156670545;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:559,48,0
chr1	156735801	rs4311877	G	C	1228.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4311877;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|RRNAD1|RRNAD1|transcript|NM_015997.3|protein_coding|7/8|c.1198G>C|p.Val400Leu|1832/2269|1198/1428|400/475||,C|missense_variant|MODERATE|RRNAD1|RRNAD1|transcript|NM_001142560.1|protein_coding|6/7|c.713G>C|p.Arg238Pro|1347/1784|713/834|238/277||,C|downstream_gene_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_024540.3|protein_coding||c.*1597C>G|||||1501|,C|downstream_gene_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_145729.2|protein_coding||c.*1597C>G|||||1501|;p3_1000G_AA=C|||;p3_1000G_AC=4863;p3_1000G_AF=0.971046;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=10832;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156705593;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4055,351;ESP6500_AA_AGE=180.8+/-209.0;ESP6500_AA_GTC=1868,319,16;ESP6500_CDS_SIZES=NM_015997.3:1428,NM_001142560.1:834;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=94;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015997.3:missense,NM_001142560.1:missense;ESP6500_GL=RRNAD1;ESP6500_GRCh38_POSITION=1:156735801;ESP6500_GS=32,103;ESP6500_GTC=6163,324,16;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015997.3:c.1198G>C,NM_001142560.1:c.713G>C;ESP6500_HGVS_PROTEIN_VAR=NM_015997.3:p.(V400L),NM_001142560.1:p.(R238P);ESP6500_MAF=0.0581,7.9664,2.7372;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12650,356	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1257,111,0
chr1	156736767	rs8658	A	C	633.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.56;SOR=1.708;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8658;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|RRNAD1|RRNAD1|transcript|NM_015997.3|protein_coding|8/8|c.*14A>C|||||14|,C|3_prime_UTR_variant|MODIFIER|RRNAD1|RRNAD1|transcript|NM_001142560.1|protein_coding|7/7|c.*123A>C|||||123|,C|downstream_gene_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_024540.3|protein_coding||c.*631T>G|||||535|,C|downstream_gene_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_145729.2|protein_coding||c.*631T>G|||||535|;p3_1000G_AA=C|||;p3_1000G_AC=1607;p3_1000G_AF=0.320887;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=17685;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156706559;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/0:0,7:7:99:662,415,393
chr1	156736767	rs8658	A	G	633.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.56;SOR=1.708;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8658;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|RRNAD1|RRNAD1|transcript|NM_015997.3|protein_coding|8/8|c.*14A>G|||||14|,G|3_prime_UTR_variant|MODIFIER|RRNAD1|RRNAD1|transcript|NM_001142560.1|protein_coding|7/7|c.*123A>G|||||123|,G|downstream_gene_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_024540.3|protein_coding||c.*631T>C|||||535|,G|downstream_gene_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_145729.2|protein_coding||c.*631T>C|||||535|;p3_1000G_AA=C|||;p3_1000G_AC=3196;p3_1000G_AF=0.638179;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=17685;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156706559;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:0,16:16:99:662,246,198
chr1	156737983	rs6670122	T	G	1225.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.81;SOR=2.517;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6670122;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|RRNAD1|RRNAD1|transcript|NM_015997.3|protein_coding||c.*1230T>G|||||1023|,G|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001319186.1|protein_coding||c.*5466A>C|||||4124|,G|downstream_gene_variant|MODIFIER|RRNAD1|RRNAD1|transcript|NM_001142560.1|protein_coding||c.*1339T>G|||||1023|,G|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001319187.1|protein_coding||c.*5466A>C|||||4124|,G|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001319188.1|protein_coding||c.*5466A>C|||||4124|,G|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_004494.2|protein_coding||c.*5466A>C|||||4124|,G|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001126051.1|protein_coding||c.*5466A>C|||||4124|,G|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001126050.1|protein_coding||c.*5466A>C|||||4124|,G|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NR_135008.1|pseudogene||n.*4124A>C|||||4124|,G|intron_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_024540.3|protein_coding|4/5|c.383+48A>C||||||,G|intron_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_145729.2|protein_coding|4/5|c.383+48A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4816;p3_1000G_AF=0.961661;p3_1000G_AFR_AF=0.8601;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19340;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156707775;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3963,443;ESP6500_AA_AGE=205.5+/-227.4;ESP6500_AA_GTC=1781,401,21;ESP6500_CDS_SIZES=NM_145729.2:651,NM_024540.3:651;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=28;ESP6500_EA_AC=8594,6;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4294,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145729.2:intron,NM_024540.3:intron;ESP6500_GL=MRPL24;ESP6500_GRCh38_POSITION=1:156737983;ESP6500_GTC=6075,407,21;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_145729.2:c.383+48A>C,NM_024540.3:c.383+48A>C;ESP6500_MAF=0.0698,10.0545,3.4523;ESP6500_TAC=12557,449	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1254,99,0
chr1	156738452	rs28697076	C	T	1509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.578;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.033;SOR=0.728;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28697076;dbSNPBuildID=125;ANN=T|downstream_gene_variant|MODIFIER|RRNAD1|RRNAD1|transcript|NM_015997.3|protein_coding||c.*1699C>T|||||1492|,T|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001319186.1|protein_coding||c.*4997G>A|||||3655|,T|downstream_gene_variant|MODIFIER|RRNAD1|RRNAD1|transcript|NM_001142560.1|protein_coding||c.*1808C>T|||||1492|,T|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001319187.1|protein_coding||c.*4997G>A|||||3655|,T|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001319188.1|protein_coding||c.*4997G>A|||||3655|,T|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_004494.2|protein_coding||c.*4997G>A|||||3655|,T|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001126051.1|protein_coding||c.*4997G>A|||||3655|,T|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NM_001126050.1|protein_coding||c.*4997G>A|||||3655|,T|downstream_gene_variant|MODIFIER|HDGF|HDGF|transcript|NR_135008.1|pseudogene||n.*3655G>A|||||3655|,T|intron_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_024540.3|protein_coding|2/5|c.184-14G>A||||||,T|intron_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_145729.2|protein_coding|2/5|c.184-14G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1093;p3_1000G_AF=0.218251;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=20419;p3_1000G_EAS_AF=0.0833;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156708244;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=982,3424;ESP6500_AA_AGE=365.6+/-317.5;ESP6500_AA_GTC=132,718,1353;ESP6500_CDS_SIZES=NM_145729.2:651,NM_024540.3:651;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=132;ESP6500_EA_AC=2076,6524;ESP6500_EA_AGE=356.4+/-330.3;ESP6500_EA_GTC=306,1464,2530;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145729.2:intron,NM_024540.3:intron;ESP6500_GL=MRPL24;ESP6500_GRCh38_POSITION=1:156738452;ESP6500_GTC=438,2182,3883;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145729.2:c.184-14G>A,NM_024540.3:c.184-14G>A;ESP6500_MAF=24.1395,22.2878,23.5122;ESP6500_TAC=3058,9948	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1538,0,1646
chr1	156743720	rs4437869	C	T	1435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=0.929;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4437869;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|HDGF|HDGF|transcript|NM_001319186.1|protein_coding|5/6|c.717G>A|p.Glu239Glu|802/2219|717/792|239/263||,T|synonymous_variant|LOW|HDGF|HDGF|transcript|NM_001319187.1|protein_coding|5/6|c.552G>A|p.Glu184Glu|606/2023|552/627|184/208||,T|synonymous_variant|LOW|HDGF|HDGF|transcript|NM_001319188.1|protein_coding|6/7|c.552G>A|p.Glu184Glu|771/2188|552/627|184/208||,T|synonymous_variant|LOW|HDGF|HDGF|transcript|NM_004494.2|protein_coding|5/6|c.648G>A|p.Glu216Glu|970/2387|648/723|216/240||,T|synonymous_variant|LOW|HDGF|HDGF|transcript|NM_001126051.1|protein_coding|5/6|c.627G>A|p.Glu209Glu|756/2173|627/702|209/233||,T|synonymous_variant|LOW|HDGF|HDGF|transcript|NM_001126050.1|protein_coding|5/6|c.696G>A|p.Glu232Glu|781/2198|696/771|232/256||,T|upstream_gene_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_024540.3|protein_coding||c.-5016G>A|||||2589|,T|upstream_gene_variant|MODIFIER|MRPL24|MRPL24|transcript|NM_145729.2|protein_coding||c.-5016G>A|||||2589|,T|non_coding_transcript_exon_variant|MODIFIER|HDGF|HDGF|transcript|NR_135008.1|pseudogene|6/7|n.851G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4818;p3_1000G_AF=0.962061;p3_1000G_AFR_AF=0.8616;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=17032;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156713512;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3961,445;ESP6500_AA_AGE=199.4+/-223.0;ESP6500_AA_GTC=1780,401,22;ESP6500_CDS_SIZES=NM_004494.2:723,NM_001126051.1:702,NM_001126050.1:771;ESP6500_CG=-1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=46;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4293,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004494.2:coding-synonymous,NM_001126051.1:coding-synonymous,NM_001126050.1:coding-synonymous;ESP6500_GL=HDGF;ESP6500_GRCh38_POSITION=1:156743720;ESP6500_GTC=6073,408,22;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004494.2:c.648G>A,NM_001126051.1:c.627G>A,NM_001126050.1:c.696G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004494.2:p.(E216),NM_001126051.1:p.(E209),NM_001126050.1:p.(E232);ESP6500_MAF=0.0814,10.0999,3.4753;ESP6500_TAC=12554,452	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1464,134,0
chr1	156782256	rs2274503	C	G	1065.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.66;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274503;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PRCC|PRCC|transcript|NM_005973.4|protein_coding|1/6|c.469-26C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3234;p3_1000G_AF=0.645767;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=22041;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156752048;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2307,2099;ESP6500_AA_AGE=599.0+/-389.2;ESP6500_AA_GTC=609,1089,505;ESP6500_CDS_SIZES=NM_005973.4:1476;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=161;ESP6500_EA_AC=5831,2769;ESP6500_EA_AGE=675.9+/-403.2;ESP6500_EA_GTC=1994,1843,463;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005973.4:intron;ESP6500_GL=PRCC;ESP6500_GRCh38_POSITION=1:156782256;ESP6500_GTC=2603,2932,968;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005973.4:c.469-26C>G;ESP6500_MAF=32.1977,47.6396,37.4289;ESP6500_TAC=8138,4868	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1094,90,0
chr1	156782439	rs367770256;rs3831129;rs398074330	AT	A	534.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=5.67;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs367770256,rs3831129;dbSNPBuildID=107,138,138;ANN=A|intron_variant|MODIFIER|PRCC|PRCC|transcript|NM_005973.4|protein_coding|2/6|c.516+113delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TTT|TT|deletion;p3_1000G_AC=3234;p3_1000G_AF=0.645767;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=22118;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.7038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156752231;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,16:16:48:572,48,0
chr1	156786415	rs148548079	C	T	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.087;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-1.139;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148548079;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|PRCC|PRCC|transcript|NM_005973.4|protein_coding|2/6|c.517-193C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=149;p3_1000G_AF=0.0297524;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19780;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156756207;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:255,0,127
chr1	156791095	rs11264554	C	A	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.179;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=-0.931;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11264554;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PRCC|PRCC|transcript|NM_005973.4|protein_coding|3/6|c.1084-602C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1745;p3_1000G_AF=0.348442;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=17862;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.4264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156760887;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=193,1559;ESP6500_AA_GTC=10,173,693;ESP6500_CDS_SIZES=NM_005973.4:1476;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=34;ESP6500_EA_AC=1639,2343;ESP6500_EA_GTC=344,951,696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005973.4:intron;ESP6500_GL=PRCC;ESP6500_GRCh38_POSITION=1:156791095;ESP6500_GTC=354,1124,1389;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005973.4:c.1084-602C>A;ESP6500_MAF=41.1602,11.016,31.9498;ESP6500_TAC=1832,3902	GT:AD:DP:GQ:PL	0/1:12,8:20:99:170,0,341
chr1	156815190	rs926103	T	C	666.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.76;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs926103;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|SH2D2A|SH2D2A|transcript|NM_001161441.1|protein_coding|3/9|c.155A>G|p.Asn52Ser|295/1674|155/1200|52/399||,C|missense_variant|MODERATE|SH2D2A|SH2D2A|transcript|NM_001161443.1|protein_coding|2/8|c.71A>G|p.Asn24Ser|174/1523|71/1086|24/361||,C|missense_variant|MODERATE|SH2D2A|SH2D2A|transcript|NM_001161442.1|protein_coding|3/9|c.101A>G|p.Asn34Ser|264/1613|101/1116|34/371||,C|missense_variant|MODERATE|SH2D2A|SH2D2A|transcript|NM_003975.3|protein_coding|3/9|c.155A>G|p.Asn52Ser|295/1644|155/1170|52/389||,C|missense_variant|MODERATE|SH2D2A|SH2D2A|transcript|NM_001161444.1|protein_coding|3/8|c.155A>G|p.Asn52Ser|295/1430|155/1170|52/389||,C|upstream_gene_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding||c.-640T>C|||||560|;p3_1000G_AA=T|||;p3_1000G_AC=2973;p3_1000G_AF=0.59365;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=17540;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156784982;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1686,2720;ESP6500_AA_GTC=330,1026,847;ESP6500_CDS_SIZES=NM_003975.3:1170,NM_001161444.1:1170,NM_001161443.1:1086,NM_001161442.1:1116,NM_001161441.1:1200;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=25;ESP6500_EA_AC=5505,3095;ESP6500_EA_GTC=1791,1923,586;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003975.3:missense,NM_001161444.1:missense,NM_001161443.1:missense,NM_001161442.1:missense,NM_001161441.1:missense;ESP6500_GL=SH2D2A;ESP6500_GRCh38_POSITION=1:156815190;ESP6500_GS=46,46,46,46,46;ESP6500_GTC=2121,2949,1433;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003975.3:c.155A>G,NM_001161444.1:c.155A>G,NM_001161443.1:c.71A>G,NM_001161442.1:c.101A>G,NM_001161441.1:c.155A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003975.3:p.(N52S),NM_001161444.1:p.(N52S),NM_001161443.1:p.(N24S),NM_001161442.1:p.(N34S),NM_001161441.1:p.(N52S);ESP6500_MAF=35.9884,38.266,44.7101;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=7191,5815	GT:AD:DP:GQ:PL	1/1:0,19:19:57:695,57,0
chr1	156815825	rs1800601;380853	G	A	1559.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1800601;dbSNPBuildID=89;ANN=A|5_prime_UTR_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|1/17|c.-5G>A|||||5|,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161441.1|protein_coding|2/8|c.123+181C>T||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161443.1|protein_coding|1/7|c.39+181C>T||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161442.1|protein_coding|2/8|c.69+181C>T||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_003975.3|protein_coding|2/8|c.123+181C>T||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161444.1|protein_coding|2/7|c.123+181C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3190;p3_1000G_AF=0.636981;p3_1000G_AFR_AF=0.444;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=21582;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.6948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156785617;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2221,2185;ESP6500_AA_AGE=586.4+/-386.5;ESP6500_AA_GTC=556,1109,538;ESP6500_CDS_SIZES=NM_003975.3:1170,NM_001161444.1:1170,NM_001161443.1:1086,NM_001161442.1:1116,NM_001161441.1:1200,NM_001007792.1:2283;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=156;ESP6500_EA_AC=5813,2787;ESP6500_EA_AGE=442.4+/-360.1;ESP6500_EA_GTC=1982,1849,469;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003975.3:intron,NM_001161444.1:intron,NM_001161443.1:intron,NM_001161442.1:intron,NM_001161441.1:intron,NM_001007792.1:utr-5;ESP6500_GL=NTRK1,SH2D2A;ESP6500_GRCh38_POSITION=1:156815825;ESP6500_GTC=2538,2958,1007;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003975.3:c.123+181C>T,NM_001161444.1:c.123+181C>T,NM_001161443.1:c.39+181C>T,NM_001161442.1:c.69+181C>T,NM_001161441.1:c.123+181C>T,NM_001007792.1:c.-5G>A;ESP6500_MAF=32.407,49.5915,38.2285;ESP6500_TAC=8034,4972;CLINVAR_ALLELEID=364541;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.156815825G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NTRK1:4914|SH2D2A:9047;CLINVAR_ORIGIN=1;CLINVAR_RS=1800601	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1588,156,0
chr1	156815970	rs11325907	AG	A	1707.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=1.73;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11325907;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161441.1|protein_coding|2/8|c.123+35delC||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161443.1|protein_coding|1/7|c.39+35delC||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161442.1|protein_coding|2/8|c.69+35delC||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_003975.3|protein_coding|2/8|c.123+35delC||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161444.1|protein_coding|2/7|c.123+35delC||||||,A|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|1/16|c.9+133delG||||||;p3_1000G_AA=G|G|-|deletion;p3_1000G_AC=2909;p3_1000G_AF=0.580871;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.634;p3_1000G_AN=5008;p3_1000G_DP=18728;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.661;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156785762;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=INDEL;ESP6500_AA_AC=1430,2836;ESP6500_AA_GTC=244,942,947;ESP6500_CDS_SIZES=NM_003975.3:1170,NM_001161444.1:1170,NM_001161443.1:1086,NM_001161442.1:1116,NM_001161441.1:1200,NM_001007792.1:2283;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=72;ESP6500_EA_AC=5291,2963;ESP6500_EA_GTC=1716,1859,552;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003975.3:intron,NM_001161444.1:intron,NM_001161443.1:intron,NM_001161442.1:intron,NM_001161441.1:intron,NM_001007792.1:intron;ESP6500_GL=NTRK1,SH2D2A;ESP6500_GRCh38_POSITION=1:156815970;ESP6500_GTC=1960,2801,1499;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003975.3:c.123+35del1,NM_001161444.1:c.123+35del1,NM_001161443.1:c.39+35del1,NM_001161442.1:c.69+35del1,NM_001161441.1:c.123+35del1,NM_001007792.1:c.9+133del1;ESP6500_MAF=35.8977,33.5209,46.3179;ESP6500_TAC=6721,5799	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,39:39:99:1|1:156815970_AG_A:1745,117,0
chr1	156815979	rs7546838	A	G	1676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1799728,rs7546838;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161441.1|protein_coding|2/8|c.123+27T>C||||||,G|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161443.1|protein_coding|1/7|c.39+27T>C||||||,G|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161442.1|protein_coding|2/8|c.69+27T>C||||||,G|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_003975.3|protein_coding|2/8|c.123+27T>C||||||,G|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161444.1|protein_coding|2/7|c.123+27T>C||||||,G|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|1/16|c.9+141A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3085;p3_1000G_AF=0.616014;p3_1000G_AFR_AF=0.4062;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=18445;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.661;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156785771;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1978,2428;ESP6500_AA_AGE=551.8+/-378.4;ESP6500_AA_GTC=447,1084,672;ESP6500_CDS_SIZES=NM_003975.3:1170,NM_001161444.1:1170,NM_001161443.1:1086,NM_001161442.1:1116,NM_001161441.1:1200,NM_001007792.1:2283;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=70;ESP6500_EA_AC=5516,3084;ESP6500_EA_AGE=650.1+/-400.7;ESP6500_EA_GTC=1793,1930,577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003975.3:intron,NM_001161444.1:intron,NM_001161443.1:intron,NM_001161442.1:intron,NM_001161441.1:intron,NM_001007792.1:intron;ESP6500_GL=NTRK1,SH2D2A;ESP6500_GRCh38_POSITION=1:156815979;ESP6500_GTC=2240,3014,1249;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003975.3:c.123+27T>C,NM_001161444.1:c.123+27T>C,NM_001161443.1:c.39+27T>C,NM_001161442.1:c.69+27T>C,NM_001161441.1:c.123+27T>C,NM_001007792.1:c.9+141A>G;ESP6500_MAF=35.8605,44.8933,42.3804;ESP6500_TAC=7494,5512	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,37:37:99:1|1:156815970_AG_A:1705,114,0
chr1	156815987	rs1800600	G	A	1546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1800600;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161441.1|protein_coding|2/8|c.123+19C>T||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161443.1|protein_coding|1/7|c.39+19C>T||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161442.1|protein_coding|2/8|c.69+19C>T||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_003975.3|protein_coding|2/8|c.123+19C>T||||||,A|intron_variant|MODIFIER|SH2D2A|SH2D2A|transcript|NM_001161444.1|protein_coding|2/7|c.123+19C>T||||||,A|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|1/16|c.9+149G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3320;p3_1000G_AF=0.662939;p3_1000G_AFR_AF=0.534;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=18805;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.6958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156785779;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2508,1898;ESP6500_AA_AGE=625.4+/-394.5;ESP6500_AA_GTC=706,1096,401;ESP6500_CDS_SIZES=NM_003975.3:1170,NM_001161444.1:1170,NM_001161443.1:1086,NM_001161442.1:1116,NM_001161441.1:1200,NM_001007792.1:2283;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=67;ESP6500_EA_AC=5821,2779;ESP6500_EA_AGE=675.2+/-403.2;ESP6500_EA_GTC=1991,1839,470;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003975.3:intron,NM_001161444.1:intron,NM_001161443.1:intron,NM_001161442.1:intron,NM_001161441.1:intron,NM_001007792.1:intron;ESP6500_GL=NTRK1,SH2D2A;ESP6500_GRCh38_POSITION=1:156815987;ESP6500_GTC=2697,2935,871;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003975.3:c.123+19C>T,NM_001161444.1:c.123+19C>T,NM_001161443.1:c.39+19C>T,NM_001161442.1:c.69+19C>T,NM_001161441.1:c.123+19C>T,NM_001007792.1:c.9+149G>A;ESP6500_MAF=32.314,43.0776,35.9603;ESP6500_TAC=8329,4677	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:156815970_AG_A:1575,105,0
chr1	156844235	rs56252149	G	A	891.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.459;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.069;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.504;SOR=0.476;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56252149;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|INSRR|INSRR|transcript|NM_014215.2|protein_coding|15/22|c.2783C>T|p.Pro928Leu|3082/4193|2783/3894|928/1297||,A|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|2/16|c.122+2042G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=17644;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156814027;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1067,3339;ESP6500_AA_AGE=387.5+/-326.5;ESP6500_AA_GTC=127,813,1263;ESP6500_CDS_SIZES=NM_014215.2:3894,NM_001007792.1:2283;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=80;ESP6500_EA_AC=1370,7230;ESP6500_EA_AGE=266.0+/-286.5;ESP6500_EA_GTC=115,1140,3045;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014215.2:missense,NM_001007792.1:intron;ESP6500_GL=INSRR,NTRK1;ESP6500_GRCh38_POSITION=1:156844235;ESP6500_GS=98,.;ESP6500_GTC=242,1953,4308;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014215.2:c.2783C>T,NM_001007792.1:c.122+2042G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014215.2:p.(P928L),.;ESP6500_MAF=15.9302,24.217,18.7375;ESP6500_PH=probably-damaging:0.97,.;ESP6500_TAC=2437,10569	GT:AD:DP:GQ:PL	0/1:27,39:66:99:920,0,690
chr1	156844686	rs41267423	G	A	873.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.974;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.15;SOR=0.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41267423;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|INSRR|INSRR|transcript|NM_014215.2|protein_coding|13/21|c.2574+21C>T||||||,A|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|2/16|c.122+2493G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=775;p3_1000G_AF=0.154752;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=15842;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156814478;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=669,3737;ESP6500_AA_AGE=282.5+/-276.6;ESP6500_AA_GTC=51,567,1585;ESP6500_CDS_SIZES=NM_014215.2:3894,NM_001007792.1:2283;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=55;ESP6500_EA_AC=1349,7251;ESP6500_EA_AGE=263.7+/-285.1;ESP6500_EA_GTC=115,1119,3066;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014215.2:intron,NM_001007792.1:intron;ESP6500_GL=INSRR,NTRK1;ESP6500_GRCh38_POSITION=1:156844686;ESP6500_GTC=166,1686,4651;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014215.2:c.2574+21C>T,NM_001007792.1:c.122+2493G>A;ESP6500_MAF=15.686,15.1838,15.5159;ESP6500_TAC=2018,10988	GT:AD:DP:GQ:PL	0/1:45,38:83:99:902,0,1197
chr1	156864512	rs1800877	G	A	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.82;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-0.179;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1800877;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_002529.3|protein_coding|2/16|c.287+84G>A||||||,A|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|3/16|c.197+84G>A||||||,A|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001012331.1|protein_coding|2/15|c.287+84G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=180;p3_1000G_AF=0.0359425;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=20008;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156834304;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,10:16:99:288,0,195
chr1	156868349	rs1800879	T	C	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.337;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.216;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1800879;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_002529.3|protein_coding|5/16|c.574+100T>C||||||,C|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|6/16|c.484+100T>C||||||,C|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001012331.1|protein_coding|5/15|c.574+100T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3564;p3_1000G_AF=0.711661;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=18995;p3_1000G_EAS_AF=0.9554;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156838141;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,17:29:99:474,0,311
chr1	156875700	rs144271100;rs56185968	A	AGTGT	662.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.21;SOR=2.448;INS;HET;VARTYPE=INS;dbSNP138_ID=rs144271100,rs56185968;dbSNPBuildID=134,129;ANN=AGTGT|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_002529.3|protein_coding|12/16|c.1501+67_1501+70dupGTGT||||||INFO_REALIGN_3_PRIME,AGTGT|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|12/16|c.1393+67_1393+70dupGTGT||||||INFO_REALIGN_3_PRIME,AGTGT|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001012331.1|protein_coding|11/15|c.1483+67_1483+70dupGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,9:9:99:700,169,119
chr1	156875700	rs144271100	A	AGTGTGT	662.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.21;SOR=2.448;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10637118;dbSNPBuildID=134;ANN=AGTGTGT|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_002529.3|protein_coding|12/16|c.1501+65_1501+70dupGTGTGT||||||INFO_REALIGN_3_PRIME,AGTGTGT|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|12/16|c.1393+65_1393+70dupGTGTGT||||||INFO_REALIGN_3_PRIME,AGTGTGT|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001012331.1|protein_coding|11/15|c.1483+65_1483+70dupGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,6:6:99:700,253,204
chr1	156876328	rs1800880	C	T	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.165;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.24;ReadPosRankSum=-0.488;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1800880;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_002529.3|protein_coding|13/16|c.1633-72C>T||||||,T|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|13/16|c.1525-72C>T||||||,T|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001012331.1|protein_coding|12/15|c.1615-72C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1161;p3_1000G_AF=0.231829;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=14065;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156846120;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,6:20:99:133,0,481
chr1	156879016	rs2768757	T	C	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.71;ReadPosRankSum=0.699;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2768757;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_002529.3|protein_coding|14/16|c.1806-106T>C||||||,C|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|14/16|c.1698-106T>C||||||,C|intron_variant|MODIFIER|NTRK1|NTRK1|transcript|NM_001012331.1|protein_coding|13/15|c.1788-106T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3148;p3_1000G_AF=0.628594;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=19660;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.8718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156848808;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:223,0,126
chr1	156879203	rs6337;138564	C	T	1030.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.586;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=2.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.416;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6337;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|NTRK1|NTRK1|transcript|NM_002529.3|protein_coding|15/17|c.1887C>T|p.Ala629Ala|1943/2655|1887/2391|629/796||,T|synonymous_variant|LOW|NTRK1|NTRK1|transcript|NM_001007792.1|protein_coding|15/17|c.1779C>T|p.Ala593Ala|1859/2571|1779/2283|593/760||,T|synonymous_variant|LOW|NTRK1|NTRK1|transcript|NM_001012331.1|protein_coding|14/16|c.1869C>T|p.Ala623Ala|1925/2637|1869/2373|623/790||;p3_1000G_AA=C|||;p3_1000G_AC=1673;p3_1000G_AF=0.334065;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=16679;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.7127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156848995;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=996,3408;ESP6500_AA_GTC=118,760,1324;ESP6500_CDS_SIZES=NM_002529.3:2391,NM_001012331.1:2373,NM_001007792.1:2283;ESP6500_CG=-7.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=28;ESP6500_EA_AC=6245,2355;ESP6500_EA_GTC=2273,1699,328;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002529.3:coding-synonymous,NM_001012331.1:coding-synonymous,NM_001007792.1:coding-synonymous;ESP6500_GL=NTRK1;ESP6500_GRCh38_POSITION=1:156879203;ESP6500_GTC=2391,2459,1652;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002529.3:c.1887C>T,NM_001012331.1:c.1869C>T,NM_001007792.1:c.1779C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002529.3:p.(A629),NM_001012331.1:p.(A623),NM_001007792.1:p.(A593);ESP6500_MAF=27.3837,22.6158,44.3171;ESP6500_TAC=7241,5763;CLINVAR_AF_TGP=0.3341;CLINVAR_ALLELEID=142267;CLINVAR_CLNDISDB=MedGen:C0020074,OMIM:256800,Orphanet:ORPHA642,SNOMED_CT:62985007|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.156879203C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2583;CLINVAR_GENEINFO=NTRK1:4914;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6337	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1059,0,1025
chr1	156905082	rs398053431;rs78436112;rs539280179	TGG	T	211.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=-0.37;SOR=1.863;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs78436112;dbSNPBuildID=137,138;ANN=T|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|3/22|c.207-233_207-232delGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1346;p3_1000G_AF=0.26877;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=19946;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156874874;p3_1000G_GRCH37_REF=TGG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,7:9:51:249,0,51
chr1	156905245	rs6676171	T	G	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.996;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6676171;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|3/22|c.207-79T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2822;p3_1000G_AF=0.563498;p3_1000G_AFR_AF=0.7103;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=16364;p3_1000G_EAS_AF=0.7966;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156875037;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:295,0,279
chr1	156905300	rs4661074	G	A	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.328;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.402;SOR=0.637;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661074;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|3/22|c.207-24G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1978;p3_1000G_AF=0.394968;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=15964;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.7962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156875092;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1058,3348;ESP6500_AA_AGE=380.2+/-323.6;ESP6500_AA_GTC=150,758,1295;ESP6500_CDS_SIZES=NM_001080471.1:3114;ESP6500_CG=0.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=36;ESP6500_EA_AC=6823,1777;ESP6500_EA_AGE=727.7+/-406.6;ESP6500_EA_GTC=2719,1385,196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080471.1:intron;ESP6500_GL=PEAR1;ESP6500_GRCh38_POSITION=1:156905300;ESP6500_GTC=2869,2143,1491;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080471.1:c.207-24G>A;ESP6500_MAF=20.6628,24.0127,39.4049;ESP6500_TAC=7881,5125	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,11:28:99:0|1:156905300_G_A:411,0,672
chr1	156905305	rs4661075	G	A	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.984;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.407;SOR=0.694;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661075;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|3/22|c.207-19G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2216;p3_1000G_AF=0.442492;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=15853;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156875097;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1425,2981;ESP6500_AA_AGE=463.4+/-353.5;ESP6500_AA_GTC=256,913,1034;ESP6500_CDS_SIZES=NM_001080471.1:3114;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=41;ESP6500_EA_AC=6849,1751;ESP6500_EA_AGE=732.1+/-406.8;ESP6500_EA_GTC=2736,1377,187;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080471.1:intron;ESP6500_GL=PEAR1;ESP6500_GRCh38_POSITION=1:156905305;ESP6500_GTC=2992,2290,1221;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080471.1:c.207-19G>A;ESP6500_MAF=20.3605,32.3423,36.3832;ESP6500_TAC=8274,4732	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,11:27:99:0|1:156905300_G_A:414,0,639
chr1	156905315	rs2644590	C	A	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.763;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.289;SOR=0.766;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2644590;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|3/22|c.207-9C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1963;p3_1000G_AF=0.391973;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=15698;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.7952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156875107;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1010,3396;ESP6500_AA_AGE=375.4+/-321.6;ESP6500_AA_GTC=134,742,1327;ESP6500_CDS_SIZES=NM_001080471.1:3114;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=46;ESP6500_EA_AC=6827,1773;ESP6500_EA_AGE=731.7+/-406.8;ESP6500_EA_GTC=2718,1391,191;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080471.1:intron;ESP6500_GL=PEAR1;ESP6500_GRCh38_POSITION=1:156905315;ESP6500_GTC=2852,2133,1518;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080471.1:c.207-9C>A;ESP6500_MAF=20.6163,22.9233,39.7432;ESP6500_TAC=7837,5169	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,11:26:99:0|1:156905300_G_A:450,0,589
chr1	156906193	rs2644593	G	A	591.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2644593;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|4/22|c.308-83G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4871;p3_1000G_AF=0.972644;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=17220;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156875985;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:620,54,0
chr1	156907665	rs1952294	T	C	2263.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.34;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1952294;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|7/23|c.700T>C|p.Ser234Pro|816/4866|700/3114|234/1037||;p3_1000G_AA=C|||;p3_1000G_AC=4887;p3_1000G_AF=0.975839;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16761;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156877457;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4108,298;ESP6500_AA_AGE=162.2+/-194.2;ESP6500_AA_GTC=1914,280,9;ESP6500_CDS_SIZES=NM_001080471.1:3114;ESP6500_CG=5.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=143;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080471.1:missense;ESP6500_GL=PEAR1;ESP6500_GRCh38_POSITION=1:156907665;ESP6500_GS=74;ESP6500_GTC=6210,284,9;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080471.1:c.700T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001080471.1:p.(S234P);ESP6500_MAF=0.0465,6.7635,2.322;ESP6500_PH=benign:0.0;ESP6500_TAC=12704,302	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2292,210,0
chr1	156908628	rs4661076	G	A	672.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.749;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.536;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.2;ReadPosRankSum=0.487;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661076;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|9/22|c.1116-27G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=860;p3_1000G_AF=0.171725;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=13003;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156878420;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=9,3549;ESP6500_AA_GTC=0,9,1770;ESP6500_CDS_SIZES=NM_001080471.1:3114;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=3;ESP6500_EA_AC=60,7008;ESP6500_EA_GTC=2,56,3476;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080471.1:intron;ESP6500_GL=PEAR1;ESP6500_GRCh38_POSITION=1:156908628;ESP6500_GTC=2,65,5246;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080471.1:c.1116-27G>A;ESP6500_MAF=0.8489,0.253,0.6494;ESP6500_TAC=69,10557	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,18:29:99:0|1:156908628_G_A:701,0,641
chr1	156908629	rs4661011	C	T	672.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.961;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.536;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.2;ReadPosRankSum=0.487;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4661011;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|9/22|c.1116-26C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=859;p3_1000G_AF=0.171526;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=12981;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156878421;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=10,3554;ESP6500_AA_GTC=0,10,1772;ESP6500_CDS_SIZES=NM_001080471.1:3114;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=3;ESP6500_EA_AC=62,7002;ESP6500_EA_GTC=2,58,3472;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080471.1:intron;ESP6500_GL=PEAR1;ESP6500_GRCh38_POSITION=1:156908629;ESP6500_GTC=2,68,5244;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080471.1:c.1116-26C>T;ESP6500_MAF=0.8777,0.2806,0.6775;ESP6500_TAC=72,10556	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,18:29:99:0|1:156908628_G_A:701,0,641
chr1	156912469	rs57731889	C	T	622.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.316;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.716;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57731889;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|16/22|c.2081-25C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1272;p3_1000G_AF=0.253994;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=19028;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.0666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156882261;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=604,3802;ESP6500_AA_AGE=261.3+/-264.2;ESP6500_AA_GTC=39,526,1638;ESP6500_CDS_SIZES=NM_001080471.1:3114;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=48;ESP6500_EA_AC=609,7991;ESP6500_EA_AGE=158.9+/-212.3;ESP6500_EA_GTC=25,559,3716;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080471.1:intron;ESP6500_GL=PEAR1;ESP6500_GRCh38_POSITION=1:156912469;ESP6500_GTC=64,1085,5354;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080471.1:c.2081-25C>T;ESP6500_MAF=7.0814,13.7086,9.3265;ESP6500_TAC=1213,11793	GT:AD:DP:GQ:PL	0/1:23,25:48:99:651,0,797
chr1	156913754	rs12137505	A	G	822.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12137505;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|21/23|c.2707A>G|p.Asn903Asp|2823/4866|2707/3114|903/1037||;p3_1000G_AA=A|||;p3_1000G_AC=2259;p3_1000G_AF=0.451078;p3_1000G_AFR_AF=0.2557;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=17614;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.3926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156883546;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1133,3273;ESP6500_AA_AGE=402.6+/-332.4;ESP6500_AA_GTC=145,843,1215;ESP6500_CDS_SIZES=NM_001080471.1:3114;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=53;ESP6500_EA_AC=3483,5117;ESP6500_EA_AGE=508.4+/-377.0;ESP6500_EA_GTC=719,2045,1536;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080471.1:missense;ESP6500_GL=PEAR1;ESP6500_GRCh38_POSITION=1:156913754;ESP6500_GS=23;ESP6500_GTC=864,2888,2751;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080471.1:c.2707A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001080471.1:p.(N903D);ESP6500_MAF=40.5,25.7149,35.4913;ESP6500_PH=benign:0.094;ESP6500_TAC=4616,8390	GT:AD:DP:GQ:PL	1/1:0,28:28:84:851,84,0
chr1	156914573	rs749256	T	C	829.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs749256;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PEAR1|PEAR1|transcript|NM_001080471.1|protein_coding|22/22|c.2963-74T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4559;p3_1000G_AF=0.910343;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=18819;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.7316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156884365;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:858,66,0
chr1	156924214	rs822438	C	G	326.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs822438;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|LRRC71|LRRC71|transcript|NM_144702.2|protein_coding|2/14|c.310+116C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=3823;p3_1000G_AF=0.763379;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=10162;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156894006;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:355,33,0
chr1	156924571	.	A	C	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.754;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=29.747;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=-1.757;SOR=3.585;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|LRRC71|LRRC71|transcript|NM_144702.2|protein_coding|3/14|c.439+19A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:32,5:37:39:0|1:156924571_A_C:39,0,1564
chr1	156932467	rs822430	G	A	1588.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.094;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs822430;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|LRRC71|LRRC71|transcript|NM_144702.2|protein_coding|14/15|c.1485G>A|p.Thr495Thr|1657/1971|1485/1680|495/559||,A|downstream_gene_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding||c.*3533C>T|||||2373|,A|downstream_gene_variant|MODIFIER|MIR765|MIR765|transcript|NR_030527.1|pseudogene||n.*3664C>T|||||3664|,A|downstream_gene_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding||c.*3533C>T|||||2373|;p3_1000G_AA=A|||;p3_1000G_AC=3780;p3_1000G_AF=0.754792;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=18256;p3_1000G_EAS_AF=0.8492;p3_1000G_EUR_AF=0.5318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156902259;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3613,699;ESP6500_AA_GTC=1530,553,73;ESP6500_CDS_SIZES=NM_144702.2:1680;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=62;ESP6500_EA_AC=4604,3916;ESP6500_EA_GTC=1255,2094,911;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144702.2:coding-synonymous;ESP6500_GL=LRRC71;ESP6500_GRCh38_POSITION=1:156932467;ESP6500_GTC=2785,2647,984;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144702.2:c.1485G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144702.2:p.(T495);ESP6500_MAF=45.9624,16.2106,35.9648;ESP6500_TAC=8217,4615	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1617,153,0
chr1	156932760	rs879060866	T	A	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.332;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.933;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.15;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|downstream_gene_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding||c.*3240A>T|||||2080|,A|downstream_gene_variant|MODIFIER|MIR765|MIR765|transcript|NR_030527.1|pseudogene||n.*3371A>T|||||3371|,A|downstream_gene_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding||c.*3240A>T|||||2080|,A|intron_variant|MODIFIER|LRRC71|LRRC71|transcript|NM_144702.2|protein_coding|14/14|c.1564-93T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,3:16:77:0|1:156932760_T_A:77,0,487
chr1	156932770	.	T	A	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=1.25;SOR=1.911;SNP;HET;VARTYPE=SNP;ANN=A|downstream_gene_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding||c.*3230A>T|||||2070|,A|downstream_gene_variant|MODIFIER|MIR765|MIR765|transcript|NR_030527.1|pseudogene||n.*3361A>T|||||3361|,A|downstream_gene_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding||c.*3230A>T|||||2070|,A|intron_variant|MODIFIER|LRRC71|LRRC71|transcript|NM_144702.2|protein_coding|14/14|c.1564-83T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,3:17:74:0|1:156932760_T_A:74,0,523
chr1	156937289	rs945508	T	C	2373.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=0.746;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs945508;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding|39/41|c.4400A>G|p.His1467Arg|5440/6889|4400/4689|1467/1562||,C|missense_variant|MODERATE|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding|38/40|c.4280A>G|p.His1427Arg|5320/6769|4280/4569|1427/1522||,C|upstream_gene_variant|MODIFIER|MIR765|MIR765|transcript|NR_030527.1|pseudogene||n.-1045A>G|||||1045|,C|downstream_gene_variant|MODIFIER|LRRC71|LRRC71|transcript|NM_144702.2|protein_coding||c.*4320T>C|||||4201|;p3_1000G_AA=C|||;p3_1000G_AC=3818;p3_1000G_AF=0.76238;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=19155;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.5517;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156907081;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3701,705;ESP6500_AA_AGE=293.0+/-282.3;ESP6500_AA_GTC=1557,587,59;ESP6500_CDS_SIZES=NM_198236.2:4689,NM_014784.3:4569;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=85;ESP6500_EA_AC=4757,3843;ESP6500_EA_AGE=539.8+/-383.7;ESP6500_EA_GTC=1320,2117,863;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198236.2:missense,NM_014784.3:missense;ESP6500_GL=ARHGEF11;ESP6500_GRCh38_POSITION=1:156937289;ESP6500_GS=29,29;ESP6500_GTC=2877,2704,922;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198236.2:c.4400A>G,NM_014784.3:c.4280A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198236.2:p.(H1467R),NM_014784.3:p.(H1427R);ESP6500_MAF=44.686,16.0009,34.9685;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8458,4548	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2402,228,0
chr1	156937323	rs868188	T	C	2192.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=0.787;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs868188;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding|39/41|c.4366A>G|p.Ser1456Gly|5406/6889|4366/4689|1456/1562||,C|missense_variant|MODERATE|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding|38/40|c.4246A>G|p.Ser1416Gly|5286/6769|4246/4569|1416/1522||,C|upstream_gene_variant|MODIFIER|MIR765|MIR765|transcript|NR_030527.1|pseudogene||n.-1079A>G|||||1079|,C|downstream_gene_variant|MODIFIER|LRRC71|LRRC71|transcript|NM_144702.2|protein_coding||c.*4354T>C|||||4235|;p3_1000G_AA=T|||;p3_1000G_AC=2036;p3_1000G_AF=0.40655;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=18795;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.3569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156907115;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=987,3419;ESP6500_AA_AGE=366.4+/-317.8;ESP6500_AA_GTC=106,775,1322;ESP6500_CDS_SIZES=NM_198236.2:4689,NM_014784.3:4569;ESP6500_CG=0.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=63;ESP6500_EA_AC=3067,5533;ESP6500_EA_AGE=465.4+/-366.5;ESP6500_EA_GTC=557,1953,1790;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198236.2:missense,NM_014784.3:missense;ESP6500_GL=ARHGEF11;ESP6500_GRCh38_POSITION=1:156937323;ESP6500_GS=56,56;ESP6500_GTC=663,2728,3112;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198236.2:c.4366A>G,NM_014784.3:c.4246A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198236.2:p.(S1456G),NM_014784.3:p.(S1416G);ESP6500_MAF=35.6628,22.4013,31.1702;ESP6500_PH=benign:0.003,benign:0.003;ESP6500_TAC=4054,8952	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2221,195,0
chr1	156941587	rs2275200	A	G	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.94;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-1.191;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275200;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding|34/40|c.3453-154T>C||||||,G|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding|33/39|c.3333-154T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1169;p3_1000G_AF=0.233427;p3_1000G_AFR_AF=0.2988;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=18606;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.1779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156911379;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:312,0,267
chr1	156944448	rs561285420;rs57550241;rs5778015	CCATT	C	908.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.83;SOR=2.636;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57550241,rs5778015,rs71672939;dbSNPBuildID=137,142,129;ANN=C|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding|30/40|c.2992-19_2992-16delAATG||||||,C|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding|29/39|c.2872-19_2872-16delAATG||||||	GT:AD:DP:GQ:PL	1/1:0,21:21:64:946,64,0
chr1	156969383	rs1336149	C	T	742.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.53;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1336149;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding|9/40|c.749-25G>A||||||,T|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding|8/39|c.629-25G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3582;p3_1000G_AF=0.715256;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=20674;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.4891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156939175;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3377,1029;ESP6500_AA_GTC=1304,769,130;ESP6500_CDS_SIZES=NM_198236.2:4689,NM_014784.3:4569;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=19;ESP6500_EA_AC=4192,4406;ESP6500_EA_GTC=1041,2110,1148;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198236.2:intron,NM_014784.3:intron;ESP6500_GL=ARHGEF11;ESP6500_GRCh38_POSITION=1:156969383;ESP6500_GTC=2345,2879,1278;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198236.2:c.749-25G>A,NM_014784.3:c.629-25G>A;ESP6500_MAF=48.7555,23.3545,41.7948;ESP6500_TAC=7569,5435	GT:AD:DP:GQ:PL	1/1:0,28:28:84:771,84,0
chr1	156979164	rs3831270;rs397840602	CCCT	C	1009.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=1.5;SOR=0.767;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3831270;dbSNPBuildID=135,138;ANN=C|sequence_feature|LOW|ARHGEF11|ARHGEF11|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_198236.2|protein_coding|5/40|c.331+62_331+64delAGG||||||,C|sequence_feature|LOW|ARHGEF11|ARHGEF11|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_014784.3|protein_coding|5/39|c.331+62_331+64delAGG||||||,C|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding|5/40|c.331+62_331+64delAGG||||||,C|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding|5/39|c.331+62_331+64delAGG||||||;p3_1000G_AC=1172;p3_1000G_AF=0.234026;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=20351;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156948956;p3_1000G_GRCH37_REF=CCCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=INDEL;ESP6500_AA_AC=286,3980;ESP6500_AA_GTC=11,264,1858;ESP6500_CDS_SIZES=NM_198236.2:4689,NM_014784.3:4569;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=79;ESP6500_EA_AC=1681,6573;ESP6500_EA_GTC=186,1309,2632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198236.2:intron,NM_014784.3:intron;ESP6500_GL=ARHGEF11;ESP6500_GRCh38_POSITION=1:156979164;ESP6500_GTC=197,1573,4490;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_198236.2:c.331+62_331+64del3,NM_014784.3:c.331+62_331+64del3;ESP6500_MAF=20.3659,6.7042,15.7109;ESP6500_TAC=1967,10553	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,27:56:99:0|1:156979164_CCCT_C:1047,0,1367
chr1	156984475	rs6427339	C	T	862.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.668;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.717;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=-0.663;SOR=0.334;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6427339;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding|2/40|c.125-38G>A||||||,T|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding|2/39|c.125-38G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2964;p3_1000G_AF=0.591853;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=20445;p3_1000G_EAS_AF=0.7798;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156954267;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2953,1445;ESP6500_AA_GTC=988,977,234;ESP6500_CDS_SIZES=NM_198236.2:4689,NM_014784.3:4569;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=47;ESP6500_EA_AC=3374,5208;ESP6500_EA_GTC=700,1974,1617;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198236.2:intron,NM_014784.3:intron;ESP6500_GL=ARHGEF11;ESP6500_GRCh38_POSITION=1:156984475;ESP6500_GTC=1688,2951,1851;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198236.2:c.125-38G>A,NM_014784.3:c.125-38G>A;ESP6500_MAF=39.3148,32.8558,48.7442;ESP6500_TAC=6327,6653	GT:AD:DP:GQ:PL	0/1:24,29:53:99:891,0,686
chr1	156986265	rs3737599	T	C	439.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.15;ReadPosRankSum=1.93;SOR=0.126;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737599;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_198236.2|protein_coding|1/40|c.33-92A>G||||||,C|intron_variant|MODIFIER|ARHGEF11|ARHGEF11|transcript|NM_014784.3|protein_coding|1/39|c.33-92A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1189;p3_1000G_AF=0.23742;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=19482;p3_1000G_EAS_AF=0.4563;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=156956057;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,14:19:99:468,0,140
chr1	157092572	rs1176536	G	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.876;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.765;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNPBuildID=87;ANN=T|3_prime_UTR_variant|MODIFIER|ETV3L|ETV3L|transcript|NM_001004341.2|protein_coding|5/5|c.*77C>A|||||77|;p3_1000G_AA=G|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17823;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157062364;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:96:96,0,151
chr1	157092585	rs538953999	C	T	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.634;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=2.02;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|3_prime_UTR_variant|MODIFIER|ETV3L|ETV3L|transcript|NM_001004341.2|protein_coding|5/5|c.*64G>A|||||64|;p3_1000G_AA=c|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17594;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157062377;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:120,0,228
chr1	157099362	rs16838075	A	G	1313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.92;QD=31.28;SOR=1.432;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16838075;dbSNPBuildID=123;ANN=G|synonymous_variant|LOW|ETV3L|ETV3L|transcript|NM_001004341.2|protein_coding|2/5|c.75T>C|p.Asp25Asp|360/1977|75/1086|25/361||;p3_1000G_AA=G|||;p3_1000G_AC=1480;p3_1000G_AF=0.295527;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=16899;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.1312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157069154;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2197,2209;ESP6500_AA_AGE=588.8+/-387.0;ESP6500_AA_GTC=550,1097,556;ESP6500_CDS_SIZES=NM_001004341.2:1086;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=43;ESP6500_EA_AC=1207,7393;ESP6500_EA_AGE=762.1+/-407.6;ESP6500_EA_GTC=98,1011,3191;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004341.2:coding-synonymous;ESP6500_GL=ETV3L;ESP6500_GRCh38_POSITION=1:157099362;ESP6500_GTC=648,2108,3747;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004341.2:c.75T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004341.2:p.(D25);ESP6500_MAF=14.0349,49.8638,26.1725;ESP6500_TAC=3404,9602	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1342,111,0
chr1	157515771	rs3811035	G	A	1749.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811035;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|FCRL5|FCRL5|transcript|NM_001195388.1|protein_coding|16/16|c.2835-7C>T||||||,A|splice_region_variant&intron_variant|LOW|FCRL5|FCRL5|transcript|NM_031281.2|protein_coding|16/16|c.2845-7C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2528;p3_1000G_AF=0.504792;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=16455;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.6252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157485561;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=758,3648;ESP6500_AA_AGE=310.0+/-291.3;ESP6500_AA_GTC=69,620,1514;ESP6500_CDS_SIZES=NM_031281.2:2934,NM_001195388.1:2997;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=127;ESP6500_EA_AC=5505,3095;ESP6500_EA_AGE=660.4+/-401.8;ESP6500_EA_GTC=1732,2041,527;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031281.2:intron,NM_001195388.1:intron;ESP6500_GL=FCRL5;ESP6500_GRCh38_POSITION=1:157515771;ESP6500_GTC=1801,2661,2041;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031281.2:c.2845-7C>T,NM_001195388.1:c.2835-7C>T;ESP6500_MAF=35.9884,17.2038,48.1547;ESP6500_TAC=6263,6743	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1778,166,0
chr1	157515930	rs1002967	T	C	845.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1002967;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|FCRL5|FCRL5|transcript|NM_001195388.1|protein_coding|15/16|c.2803-57A>G||||||,C|intron_variant|MODIFIER|FCRL5|FCRL5|transcript|NM_031281.2|protein_coding|15/16|c.2813-57A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4845;p3_1000G_AF=0.967452;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=16500;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157485720;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1228,156;ESP6500_AA_GTC=543,142,7;ESP6500_CDS_SIZES=NM_031281.2:2934,NM_001195388.1:2997;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=163;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031281.2:intron,NM_001195388.1:intron;ESP6500_GL=FCRL5;ESP6500_GRCh38_POSITION=1:157515930;ESP6500_GTC=2134,142,7;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031281.2:c.2813-57A>G,NM_001195388.1:c.2803-57A>G;ESP6500_MAF=0.0,11.2717,3.4166;ESP6500_TAC=4410,156	GT:AD:DP:GQ:PL	1/1:0,25:25:75:874,75,0
chr1	157521383	rs6427383	T	A	277.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427383;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FCRL5|FCRL5|transcript|NM_001195388.1|protein_coding|10/16|c.2240-91A>T||||||,A|intron_variant|MODIFIER|FCRL5|FCRL5|transcript|NM_031281.2|protein_coding|10/16|c.2240-91A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3333;p3_1000G_AF=0.665535;p3_1000G_AFR_AF=0.3026;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=19512;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.7853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157491173;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:306,27,0
chr1	157527473	rs3761961	T	C	1407.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=2.554;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3761961;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|FCRL5|FCRL5|transcript|NM_001195388.1|protein_coding|9/16|c.1960+144A>G||||||,C|intron_variant|MODIFIER|FCRL5|FCRL5|transcript|NM_031281.2|protein_coding|9/16|c.1960+144A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4218;p3_1000G_AF=0.842252;p3_1000G_AFR_AF=0.7345;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=20606;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.8648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157497263;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1436,114,0
chr1	157539011	rs1972239	C	T	952.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1972239;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|FCRL5|FCRL5|transcript|NM_001195388.1|protein_coding|7/16|c.1402+75G>A||||||,T|intron_variant|MODIFIER|FCRL5|FCRL5|transcript|NM_031281.2|protein_coding|7/16|c.1402+75G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4053;p3_1000G_AF=0.809305;p3_1000G_AFR_AF=0.6157;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=20713;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157508801;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:89:981,89,0
chr1	157539092	rs6427384	C	T	1606.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427384;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|FCRL5|FCRL5|transcript|NM_001195388.1|protein_coding|7/17|c.1396G>A|p.Val466Ile|1554/5380|1396/2997|466/998||,T|missense_variant|MODERATE|FCRL5|FCRL5|transcript|NM_031281.2|protein_coding|7/17|c.1396G>A|p.Val466Ile|1554/5390|1396/2934|466/977||;p3_1000G_AA=C|||;p3_1000G_AC=3472;p3_1000G_AF=0.693291;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=19274;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.8539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157508882;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8487;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1796,2610;ESP6500_AA_AGE=523.1+/-371.0;ESP6500_AA_GTC=384,1028,791;ESP6500_CDS_SIZES=NM_031281.2:2934,NM_001195388.1:2997;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=44;ESP6500_EA_AC=7298,1302;ESP6500_EA_AGE=753.8+/-407.5;ESP6500_EA_GTC=3085,1128,87;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031281.2:missense,NM_001195388.1:missense;ESP6500_GL=FCRL5;ESP6500_GRCh38_POSITION=1:157539092;ESP6500_GS=29,29;ESP6500_GTC=3469,2156,878;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_031281.2:c.1396G>A,NM_001195388.1:c.1396G>A;ESP6500_HGVS_PROTEIN_VAR=NM_031281.2:p.(V466I),NM_001195388.1:p.(V466I);ESP6500_MAF=15.1395,40.7626,30.0784;ESP6500_PH=possibly-damaging:0.718,possibly-damaging:0.718;ESP6500_TAC=9094,3912	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1635,150,0
chr1	157539235	rs2012199	C	T	2609.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=0.742;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2012199;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|FCRL5|FCRL5|transcript|NM_001195388.1|protein_coding|7/17|c.1253G>A|p.Gly418Asp|1411/5380|1253/2997|418/998||,T|missense_variant|MODERATE|FCRL5|FCRL5|transcript|NM_031281.2|protein_coding|7/17|c.1253G>A|p.Gly418Asp|1411/5390|1253/2934|418/977||;p3_1000G_AA=N|||;p3_1000G_AC=4212;p3_1000G_AF=0.841054;p3_1000G_AFR_AF=0.7345;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=19027;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157509025;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3352,1054;ESP6500_AA_AGE=385.4+/-325.7;ESP6500_AA_GTC=1298,756,149;ESP6500_CDS_SIZES=NM_031281.2:2934,NM_001195388.1:2997;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=78;ESP6500_EA_AC=7370,1230;ESP6500_EA_AGE=245.1+/-274.1;ESP6500_EA_GTC=3149,1072,79;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031281.2:missense,NM_001195388.1:missense;ESP6500_GL=FCRL5;ESP6500_GRCh38_POSITION=1:157539235;ESP6500_GS=94,94;ESP6500_GTC=4447,1828,228;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_031281.2:c.1253G>A,NM_001195388.1:c.1253G>A;ESP6500_HGVS_PROTEIN_VAR=NM_031281.2:p.(G418D),NM_001195388.1:p.(G418D);ESP6500_MAF=14.3023,23.9219,17.5611;ESP6500_PH=benign:0.01,benign:0.01;ESP6500_TAC=10722,2284	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2638,246,0
chr1	157544307	rs6679793	A	G	1125.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.4;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6679793;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|FCRL5|FCRL5|transcript|NM_001195388.1|protein_coding|5/17|c.799T>C|p.Tyr267His|957/5380|799/2997|267/998||,G|missense_variant|MODERATE|FCRL5|FCRL5|transcript|NM_031281.2|protein_coding|5/17|c.799T>C|p.Tyr267His|957/5390|799/2934|267/977||;p3_1000G_AA=A|||;p3_1000G_AC=3542;p3_1000G_AF=0.707268;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=20610;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.8221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157514097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2089,2317;ESP6500_AA_AGE=572.8+/-383.4;ESP6500_AA_GTC=483,1123,597;ESP6500_CDS_SIZES=NM_031281.2:2934,NM_001195388.1:2997;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=157;ESP6500_EA_AC=6990,1610;ESP6500_EA_AGE=743.5+/-407.2;ESP6500_EA_GTC=2846,1298,156;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031281.2:missense,NM_001195388.1:missense;ESP6500_GL=FCRL5;ESP6500_GRCh38_POSITION=1:157544307;ESP6500_GS=83,83;ESP6500_GTC=3329,2421,753;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031281.2:c.799T>C,NM_001195388.1:c.799T>C;ESP6500_HGVS_PROTEIN_VAR=NM_031281.2:p.(Y267H),NM_001195388.1:p.(Y267H);ESP6500_MAF=18.7209,47.4126,30.1938;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=9079,3927	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1154,96,0
chr1	157575441	rs849827	G	T	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.656;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.256;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs849827;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|12/12|c.*83C>A|||||83|;p3_1000G_AA=G|||;p3_1000G_AC=2208;p3_1000G_AF=0.440895;p3_1000G_AFR_AF=0.7882;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=22005;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157545231;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:360,0,171
chr1	157578879	rs1885561	T	A	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.321;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=5.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=-1.403;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1885561;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|8/11|c.1278-27A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2208;p3_1000G_AF=0.440895;p3_1000G_AFR_AF=0.7882;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=19624;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157548669;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3152,1254;ESP6500_AA_AGE=690.6+/-405.3;ESP6500_AA_GTC=1132,888,183;ESP6500_CDS_SIZES=NM_031282.2:1548;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=40;ESP6500_EA_AC=3094,5506;ESP6500_EA_AGE=465.7+/-366.6;ESP6500_EA_GTC=549,1996,1755;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031282.2:intron;ESP6500_GL=FCRL4;ESP6500_GRCh38_POSITION=1:157578879;ESP6500_GTC=1681,2884,1938;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_031282.2:c.1278-27A>T;ESP6500_MAF=35.9767,28.4612,48.024;ESP6500_TAC=6246,6760	GT:AD:DP:GQ:PL	0/1:14,5:19:99:121,0,428
chr1	157580276	rs10489673	T	C	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.41;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.171;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.127;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10489673;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|8/11|c.1277+45A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1916;p3_1000G_AF=0.382588;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.5159;p3_1000G_AN=5008;p3_1000G_DP=19045;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.3817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157550066;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=372,4034;ESP6500_AA_AGE=190.2+/-216.2;ESP6500_AA_GTC=17,338,1848;ESP6500_CDS_SIZES=NM_031282.2:1548;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=138;ESP6500_EA_AC=3337,5263;ESP6500_EA_AGE=498.1+/-374.7;ESP6500_EA_GTC=619,2099,1582;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031282.2:intron;ESP6500_GL=FCRL4;ESP6500_GRCh38_POSITION=1:157580276;ESP6500_GTC=636,2437,3430;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031282.2:c.1277+45A>G;ESP6500_MAF=38.8023,8.443,28.5176;ESP6500_TAC=3709,9297	GT:AD:DP:GQ:PL	0/1:23,20:43:99:452,0,542
chr1	157587911	rs2777962	G	A	672.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.414;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=6.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.847;SOR=1.708;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2777962;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|4/12|c.516C>T|p.Asp172Asp|652/3459|516/1548|172/515||;p3_1000G_AA=G|||;p3_1000G_AC=2496;p3_1000G_AF=0.498403;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=21676;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.4284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157557701;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1662,2744;ESP6500_AA_AGE=496.0+/-363.4;ESP6500_AA_GTC=324,1014,865;ESP6500_CDS_SIZES=NM_031282.2:1548;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=3680,4920;ESP6500_EA_AGE=521.8+/-380.0;ESP6500_EA_GTC=769,2142,1389;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031282.2:coding-synonymous;ESP6500_GL=FCRL4;ESP6500_GRCh38_POSITION=1:157587911;ESP6500_GTC=1093,3156,2254;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031282.2:c.516C>T;ESP6500_HGVS_PROTEIN_VAR=NM_031282.2:p.(D172);ESP6500_MAF=42.7907,37.7213,41.0734;ESP6500_TAC=5342,7664	GT:AD:DP:GQ:PL	0/1:26,28:54:99:701,0,668
chr1	157588167	rs11799853	T	C	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.28;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=-0.026;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11799853;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|3/11|c.308-48A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1489;p3_1000G_AF=0.297324;p3_1000G_AFR_AF=0.3071;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=20765;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.3539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157557957;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1391,3015;ESP6500_AA_AGE=687.2+/-404.8;ESP6500_AA_GTC=214,963,1026;ESP6500_CDS_SIZES=NM_031282.2:1548;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=38;ESP6500_EA_AC=2840,5760;ESP6500_EA_AGE=673.4+/-403.0;ESP6500_EA_GTC=464,1912,1924;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031282.2:intron;ESP6500_GL=FCRL4;ESP6500_GRCh38_POSITION=1:157588167;ESP6500_GTC=678,2875,2950;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031282.2:c.308-48A>G;ESP6500_MAF=33.0233,31.5706,32.5311;ESP6500_TAC=4231,8775	GT:AD:DP:GQ:PL	0/1:5,8:13:99:291,0,158
chr1	157596180	rs1885560	A	G	183.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1885560;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|2/11|c.52+148T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3985;p3_1000G_AF=0.795727;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=19563;p3_1000G_EAS_AF=0.9008;p3_1000G_EUR_AF=0.7823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157565970;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:212,15,0
chr1	157596229	rs10489674	G	A	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.847;SOR=0.069;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10489674;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|2/11|c.52+99C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1460;p3_1000G_AF=0.291534;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=21837;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157566019;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:135,0,144
chr1	157596421	rs12744410	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.1;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.38;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12744410;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|1/11|c.32-73T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1460;p3_1000G_AF=0.291534;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=18514;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157566211;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=430,954;ESP6500_AA_GTC=62,306,324;ESP6500_CDS_SIZES=NM_031282.2:1548;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=62;ESP6500_EA_AC=1053,2129;ESP6500_EA_GTC=170,713,708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031282.2:intron;ESP6500_GL=FCRL4;ESP6500_GRCh38_POSITION=1:157596421;ESP6500_GTC=232,1019,1032;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031282.2:c.32-73T>C;ESP6500_MAF=33.0924,31.0694,32.4792;ESP6500_TAC=1483,3083	GT:AD:DP:GQ:PL	0/1:7,9:16:99:229,0,159
chr1	157597961	rs1361889	A	G	985.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1361889;dbSNPBuildID=88;ANN=G|5_prime_UTR_variant|MODIFIER|FCRL4|FCRL4|transcript|NM_031282.2|protein_coding|1/12|c.-17T>C|||||17|;p3_1000G_AA=G|||;p3_1000G_AC=3987;p3_1000G_AF=0.796126;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=17504;p3_1000G_EAS_AF=0.9008;p3_1000G_EUR_AF=0.7823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157567751;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3058,1348;ESP6500_AA_AGE=689.8+/-405.2;ESP6500_AA_GTC=1064,930,209;ESP6500_CDS_SIZES=NM_031282.2:1548;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=44;ESP6500_EA_AC=6527,2073;ESP6500_EA_AGE=712.8+/-405.9;ESP6500_EA_GTC=2492,1543,265;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031282.2:utr-5;ESP6500_GL=FCRL4;ESP6500_GRCh38_POSITION=1:157597961;ESP6500_GTC=3556,2473,474;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031282.2:c.-17T>C;ESP6500_MAF=24.1047,30.5946,26.3032;ESP6500_TAC=9585,3421	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1014,102,0
chr1	157683139	rs141977401	TA	T	236.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.741;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.497;SOR=1.27;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs141977401;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NM_001320333.1|protein_coding|11/15|c.1838+77delT||||||,T|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135214.1|pseudogene|11/15|n.2163+77delT||||||,T|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135215.1|pseudogene|11/15|n.2145+77delT||||||,T|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135216.1|pseudogene|11/15|n.2050+77delT||||||,T|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135217.1|pseudogene|10/14|n.1860+77delT||||||,T|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NM_052939.3|protein_coding|11/14|c.1838+77delT||||||;p3_1000G_AA=aAAAAAAA|AAAAAAAAA|AAAAAAAA|insertion;p3_1000G_AC=1222;p3_1000G_AF=0.24401;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=20211;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.2893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157652929;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,11:19:99:274,0,169
chr1	157698600	rs7522061	T	C	733.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.6;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=11.779;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.073;SOR=2.365;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7522061;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|FCRL3|FCRL3|transcript|NM_001320333.1|protein_coding|4/16|c.82A>G|p.Asn28Asp|389/2767|82/2229|28/742||,C|missense_variant|MODERATE|FCRL3|FCRL3|transcript|NM_052939.3|protein_coding|4/15|c.82A>G|p.Asn28Asp|374/3019|82/2205|28/734||,C|non_coding_transcript_exon_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135214.1|pseudogene|4/16|n.389A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135215.1|pseudogene|4/16|n.389A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135216.1|pseudogene|4/16|n.389A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135217.1|pseudogene|4/15|n.389A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2357;p3_1000G_AF=0.470647;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=20214;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157668390;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2767,1639;ESP6500_AA_AGE=503.2+/-365.5;ESP6500_AA_GTC=882,1003,318;ESP6500_CDS_SIZES=NM_052939.3:2205;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=101;ESP6500_EA_AC=3995,4605;ESP6500_EA_AGE=600.8+/-394.3;ESP6500_EA_GTC=900,2195,1205;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052939.3:missense;ESP6500_GL=FCRL3;ESP6500_GRCh38_POSITION=1:157698600;ESP6500_GS=23;ESP6500_GTC=1782,3198,1523;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052939.3:c.82A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052939.3:p.(N28D);ESP6500_MAF=46.4535,37.1993,48.0086;ESP6500_PH=benign:0.0;ESP6500_TAC=6762,6244	GT:AD:DP:GQ:PL	0/1:26,27:53:99:762,0,595
chr1	157699790	rs58517866	T	A	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.089;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-1.652;SOR=0.816;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58517866;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NM_001320333.1|protein_coding|2/15|c.32-78A>T||||||,A|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135214.1|pseudogene|2/15|n.339-78A>T||||||,A|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135215.1|pseudogene|2/15|n.339-78A>T||||||,A|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135216.1|pseudogene|2/15|n.339-78A>T||||||,A|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135217.1|pseudogene|2/14|n.339-78A>T||||||,A|intron_variant|MODIFIER|FCRL3|FCRL3|transcript|NM_052939.3|protein_coding|2/14|c.32-78A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=797;p3_1000G_AF=0.159145;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=21451;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157669580;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=145,1239;ESP6500_AA_GTC=9,127,556;ESP6500_CDS_SIZES=NM_052939.3:2205;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=81;ESP6500_EA_AC=640,2542;ESP6500_EA_GTC=62,516,1013;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052939.3:intron;ESP6500_GL=FCRL3;ESP6500_GRCh38_POSITION=1:157699790;ESP6500_GTC=71,643,1569;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_052939.3:c.32-78A>T;ESP6500_MAF=20.1131,10.4769,17.1923;ESP6500_TAC=785,3781	GT:AD:DP:GQ:PL	0/1:14,20:34:99:467,0,336
chr1	157700500	rs945635	C	G	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=6.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.703;SOR=1.502;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs945635;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|FCRL3|FCRL3|transcript|NM_001320333.1|protein_coding|2/16|c.-11G>C|||||11|,G|5_prime_UTR_variant|MODIFIER|FCRL3|FCRL3|transcript|NM_052939.3|protein_coding|2/15|c.-11G>C|||||11|,G|non_coding_transcript_exon_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135214.1|pseudogene|2/16|n.297G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135215.1|pseudogene|2/16|n.297G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135216.1|pseudogene|2/16|n.297G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|FCRL3|FCRL3|transcript|NR_135217.1|pseudogene|2/15|n.297G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.9175;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=17060;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.4742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157670290;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3747,659;ESP6500_AA_AGE=759.3+/-412.9;ESP6500_AA_GTC=1608,531,64;ESP6500_CDS_SIZES=NM_052939.3:2205;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=47;ESP6500_EA_AC=3770,4830;ESP6500_EA_AGE=526.5+/-381.0;ESP6500_EA_GTC=814,2142,1344;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052939.3:utr-5;ESP6500_GL=FCRL3;ESP6500_GRCh38_POSITION=1:157700500;ESP6500_GTC=2422,2673,1408;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_052939.3:c.-11G>C;ESP6500_MAF=43.8372,14.9569,42.2036;ESP6500_TAC=7517,5489	GT:AD:DP:GQ:PL	0/1:15,10:25:99:281,0,367
chr1	157710483	rs72708379	T	C	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.159;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.834;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.996;SOR=0.513;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72708379;dbSNPBuildID=130;ANN=C|intergenic_region|MODIFIER|FCRL3-FCRL2|FCRL3-FCRL2|intergenic_region|FCRL3-FCRL2|||n.157710483T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=788;p3_1000G_AF=0.157348;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=20407;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157680273;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:321,0,360
chr1	157748493	rs6696643	A	T	625.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6696643;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|FCRL2|FCRL2|transcript|NM_030764.3|protein_coding|10/11|c.1459+60T>A||||||,T|intron_variant|MODIFIER|FCRL2|FCRL2|transcript|NM_001159488.1|protein_coding|8/8|c.1307+1157T>A||||||,T|intron_variant|MODIFIER|FCRL2|FCRL2|transcript|NR_125358.1|pseudogene|6/7|n.600+382T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4732;p3_1000G_AF=0.944888;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=14938;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157718283;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9652;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1343,41;ESP6500_AA_GTC=652,39,1;ESP6500_CDS_SIZES=NM_030764.3:1527;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=2626,556;ESP6500_EA_GTC=1075,476,40;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030764.3:intron;ESP6500_GL=FCRL2;ESP6500_GRCh38_POSITION=1:157748493;ESP6500_GTC=1727,515,41;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_030764.3:c.1459+60T>A;ESP6500_MAF=17.4733,2.9624,13.0749;ESP6500_TAC=3969,597	GT:AD:DP:GQ:PL	1/1:0,19:19:57:654,57,0
chr1	157802090	rs4971154	C	T	2744.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.83;SOR=1.095;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4971154;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|FCRL1|FCRL1|transcript|NM_052938.4|protein_coding|5/11|c.711G>A|p.Pro237Pro|824/3098|711/1290|237/429||,T|synonymous_variant|LOW|FCRL1|FCRL1|transcript|NM_001159397.1|protein_coding|5/10|c.711G>A|p.Pro237Pro|824/2971|711/1101|237/366||,T|synonymous_variant|LOW|FCRL1|FCRL1|transcript|NM_001159398.1|protein_coding|5/11|c.711G>A|p.Pro237Pro|824/3095|711/1287|237/428||;p3_1000G_AA=C|||;p3_1000G_AC=1951;p3_1000G_AF=0.389577;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=19272;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157771880;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=595,3811;ESP6500_AA_AGE=261.3+/-264.2;ESP6500_AA_GTC=42,511,1650;ESP6500_CDS_SIZES=NM_052938.4:1290,NM_001159398.1:1287,NM_001159397.1:1101;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=44;ESP6500_EA_AC=4426,4174;ESP6500_EA_AGE=585.6+/-391.9;ESP6500_EA_GTC=1118,2190,992;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052938.4:coding-synonymous,NM_001159398.1:coding-synonymous,NM_001159397.1:coding-synonymous;ESP6500_GL=FCRL1;ESP6500_GRCh38_POSITION=1:157802090;ESP6500_GTC=1160,2701,2642;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052938.4:c.711G>A,NM_001159398.1:c.711G>A,NM_001159397.1:c.711G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052938.4:p.(P237),NM_001159398.1:p.(P237),NM_001159397.1:p.(P237);ESP6500_MAF=48.5349,13.5043,38.6053;ESP6500_TAC=5021,7985	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2773,275,0
chr1	157833087	rs2765500	T	C	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.82;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=5.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.248;SOR=2.655;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2765500;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CD5L|CD5L|transcript|NM_005894.2|protein_coding|5/5|c.1039+105A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1545;p3_1000G_AF=0.308506;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=18372;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.4662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157802877;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,7:21:99:224,0,385
chr1	157833189	rs2261295	C	T	1604.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2261295;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|CD5L|CD5L|transcript|NM_005894.2|protein_coding|5/5|c.1039+3G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4026;p3_1000G_AF=0.803914;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=20098;p3_1000G_EAS_AF=0.8095;p3_1000G_EUR_AF=0.7197;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157802979;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3508,898;ESP6500_AA_AGE=341.5+/-306.7;ESP6500_AA_GTC=1400,708,95;ESP6500_CDS_SIZES=NM_005894.2:1044;ESP6500_CG=0.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=86;ESP6500_EA_AC=6158,2442;ESP6500_EA_AGE=401.5+/-347.1;ESP6500_EA_GTC=2193,1772,335;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005894.2:intron;ESP6500_GL=CD5L;ESP6500_GRCh38_POSITION=1:157833189;ESP6500_GTC=3593,2480,430;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005894.2:c.1039+3G>A;ESP6500_MAF=28.3953,20.3813,25.6805;ESP6500_TAC=9666,3340	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1633,156,0
chr1	157835860	rs11537583	A	T	817.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.54;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.032;SOR=0.718;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11537583;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|CD5L|CD5L|transcript|NM_005894.2|protein_coding|3/6|c.351T>A|p.Asp117Glu|494/2237|351/1044|117/347||;p3_1000G_AA=A|||;p3_1000G_AC=602;p3_1000G_AF=0.120208;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=20779;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157805650;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=605,3801;ESP6500_AA_AGE=264.7+/-266.2;ESP6500_AA_GTC=44,517,1642;ESP6500_CDS_SIZES=NM_005894.2:1044;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=145;ESP6500_EA_AC=64,8536;ESP6500_EA_AGE=38.3+/-94.2;ESP6500_EA_GTC=0,64,4236;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005894.2:missense;ESP6500_GL=CD5L;ESP6500_GRCh38_POSITION=1:157835860;ESP6500_GS=45;ESP6500_GTC=44,581,5878;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_005894.2:c.351T>A;ESP6500_HGVS_PROTEIN_VAR=NM_005894.2:p.(D117E);ESP6500_MAF=0.7442,13.7313,5.1438;ESP6500_PH=benign:0.0;ESP6500_TAC=669,12337	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,29:55:99:0|1:157835860_A_T:846,0,739
chr1	157836216	rs2765503	G	A	659.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=4.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2765503;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CD5L|CD5L|transcript|NM_005894.2|protein_coding|2/5|c.56-61C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3952;p3_1000G_AF=0.789137;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=19651;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.7197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157806006;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:688,57,0
chr1	157839477	rs2297410	G	A	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.231;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.349;SOR=3.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297410;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CD5L|CD5L|transcript|NM_005894.2|protein_coding|1/5|c.29-67C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=738;p3_1000G_AF=0.147364;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=21219;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157809267;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=277,1107;ESP6500_AA_GTC=26,225,441;ESP6500_CDS_SIZES=NM_005894.2:1044;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=26,3156;ESP6500_EA_GTC=0,26,1565;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005894.2:intron;ESP6500_GL=CD5L;ESP6500_GRCh38_POSITION=1:157839477;ESP6500_GTC=26,251,2006;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005894.2:c.29-67C>T;ESP6500_MAF=0.8171,20.0145,6.636;ESP6500_TAC=303,4263	GT:AD:DP:GQ:PL	0/1:7,5:12:99:152,0,222
chr1	157841602	rs2260040	G	A	543.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=5.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2260040;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CD5L|CD5L|transcript|NM_005894.2|protein_coding|1/5|c.28+72C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3950;p3_1000G_AF=0.788738;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=18314;p3_1000G_EAS_AF=0.8095;p3_1000G_EUR_AF=0.7187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157811392;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1017,367;ESP6500_AA_GTC=376,265,51;ESP6500_CDS_SIZES=NM_005894.2:1044;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=93;ESP6500_EA_AC=2252,930;ESP6500_EA_GTC=794,664,133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005894.2:intron;ESP6500_GL=CD5L;ESP6500_GRCh38_POSITION=1:157841602;ESP6500_GTC=1170,929,184;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005894.2:c.28+72C>T;ESP6500_MAF=29.2269,26.5173,28.4056;ESP6500_TAC=3269,1297	GT:AD:DP:GQ:PL	1/1:0,16:16:48:572,48,0
chr1	158084589	rs927662	A	G	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.87;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.552;SOR=1.552;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs927662;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|KIRREL|KIRREL|transcript|NM_018240.6|protein_coding|4/14|c.510+10A>G||||||,G|intron_variant|MODIFIER|KIRREL|KIRREL|transcript|NM_001286349.1|protein_coding|2/12|c.210+10A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1766;p3_1000G_AF=0.352636;p3_1000G_AFR_AF=0.6354;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=16812;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158054379;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,9:27:99:253,0,479
chr1	158086759	rs41273463	G	C	1270.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=3.086;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41273463;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|KIRREL|KIRREL|transcript|NM_018240.6|protein_coding|5/14|c.661+13G>C||||||,C|intron_variant|MODIFIER|KIRREL|KIRREL|transcript|NM_001286349.1|protein_coding|3/12|c.361+13G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=899;p3_1000G_AF=0.179513;p3_1000G_AFR_AF=0.2927;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=17385;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158056549;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1299,111,0
chr1	158087843	rs36008419	C	G	791.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=2.157;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.437;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36008419;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|KIRREL|KIRREL|transcript|NM_018240.6|protein_coding|6/15|c.750C>G|p.Pro250Pro|1154/7820|750/2274|250/757||,G|synonymous_variant|LOW|KIRREL|KIRREL|transcript|NM_001286349.1|protein_coding|4/13|c.450C>G|p.Pro150Pro|854/7520|450/1974|150/657||;p3_1000G_AA=C|||;p3_1000G_AC=1144;p3_1000G_AF=0.228435;p3_1000G_AFR_AF=0.2935;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=17136;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.1938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158057633;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1196,3210;ESP6500_AA_AGE=412.8+/-336.2;ESP6500_AA_GTC=162,872,1169;ESP6500_CDS_SIZES=NM_018240.5:2274;ESP6500_CG=-11.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=47;ESP6500_EA_AC=1811,6789;ESP6500_EA_AGE=319.7+/-314.3;ESP6500_EA_GTC=182,1447,2671;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018240.5:coding-synonymous;ESP6500_GL=KIRREL;ESP6500_GRCh38_POSITION=1:158087843;ESP6500_GTC=344,2319,3840;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_018240.5:c.750C>G;ESP6500_HGVS_PROTEIN_VAR=NM_018240.5:p.(P250);ESP6500_MAF=21.0581,27.1448,23.1201;ESP6500_TAC=3007,9999	GT:AD:DP:GQ:PL	0/1:34,30:64:99:820,0,914
chr1	158087901	rs3820676	A	C	1464.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.06;SOR=1.775;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820676;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|KIRREL|KIRREL|transcript|NM_018240.6|protein_coding|6/14|c.767+41A>C||||||,C|intron_variant|MODIFIER|KIRREL|KIRREL|transcript|NM_001286349.1|protein_coding|4/12|c.467+41A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1979;p3_1000G_AF=0.395168;p3_1000G_AFR_AF=0.6793;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=15412;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158057691;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2648;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2669,1737;ESP6500_AA_AGE=513.6+/-368.4;ESP6500_AA_GTC=818,1033,352;ESP6500_CDS_SIZES=NM_018240.5:2274;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=35;ESP6500_EA_AC=2907,5693;ESP6500_EA_AGE=660.2+/-401.7;ESP6500_EA_GTC=498,1911,1891;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018240.5:intron;ESP6500_GL=KIRREL;ESP6500_GRCh38_POSITION=1:158087901;ESP6500_GTC=1316,2944,2243;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_018240.5:c.767+41A>C;ESP6500_MAF=33.8023,39.4235,42.8725;ESP6500_TAC=5576,7430	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1493,129,0
chr1	158088476	rs1284164714	CT	C	47.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.7;QD=15.91;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10578077;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|KIRREL|KIRREL|transcript|NM_018240.6|protein_coding|8/14|c.1044+48delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|KIRREL|KIRREL|transcript|NM_001286349.1|protein_coding|6/12|c.744+48delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:5:53,5,0
chr1	158094649	rs41273465	C	A	748.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.526;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=3.078;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=0.382;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41273465;dbSNPBuildID=127;ANN=A|synonymous_variant|LOW|KIRREL|KIRREL|transcript|NM_018240.6|protein_coding|15/15|c.1803C>A|p.Pro601Pro|2207/7820|1803/2274|601/757||,A|synonymous_variant|LOW|KIRREL|KIRREL|transcript|NM_001286349.1|protein_coding|13/13|c.1503C>A|p.Pro501Pro|1907/7520|1503/1974|501/657||;p3_1000G_AA=C|||;p3_1000G_AC=356;p3_1000G_AF=0.0710863;p3_1000G_AFR_AF=0.1188;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=17489;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.0676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158064439;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=465,3939;ESP6500_AA_AGE=206.2+/-227.9;ESP6500_AA_GTC=20,425,1757;ESP6500_CDS_SIZES=NM_018240.5:2274;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=61;ESP6500_EA_AC=586,8012;ESP6500_EA_AGE=149.2+/-204.3;ESP6500_EA_GTC=24,538,3737;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018240.5:coding-synonymous;ESP6500_GL=KIRREL;ESP6500_GRCh38_POSITION=1:158094649;ESP6500_GTC=44,963,5494;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018240.5:c.1803C>A;ESP6500_HGVS_PROTEIN_VAR=NM_018240.5:p.(P601);ESP6500_MAF=6.8155,10.5586,8.0834;ESP6500_TAC=1051,11951	GT:AD:DP:GQ:PL	0/1:12,31:43:99:777,0,291
chr1	158176238	rs3087210	G	A	532.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.361;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.452;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.741;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087210;dbSNPBuildID=102;ANN=A|upstream_gene_variant|MODIFIER|CD1D|CD1D|transcript|NM_001766.3|protein_coding||c.-4864G>A|||||3709|,A|upstream_gene_variant|MODIFIER|CD1D|CD1D|transcript|NM_001319145.1|protein_coding||c.-4864G>A|||||3709|,A|intergenic_region|MODIFIER|LOC646268-CD1D|LOC646268-CD1D|intergenic_region|LOC646268-CD1D|||n.158176238G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1087;p3_1000G_AF=0.217053;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=18798;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158146028;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,20:31:99:561,0,376
chr1	158176302	rs3087211	C	G	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.709;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=59.49;MQRankSum=0.623;QD=17.66;ReadPosRankSum=-1.001;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087211;dbSNPBuildID=102;ANN=G|upstream_gene_variant|MODIFIER|CD1D|CD1D|transcript|NM_001766.3|protein_coding||c.-4800C>G|||||3645|,G|upstream_gene_variant|MODIFIER|CD1D|CD1D|transcript|NM_001319145.1|protein_coding||c.-4800C>G|||||3645|,G|intergenic_region|MODIFIER|LOC646268-CD1D|LOC646268-CD1D|intergenic_region|LOC646268-CD1D|||n.158176302C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1087;p3_1000G_AF=0.217053;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=18853;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158146092;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,18:27:99:505,0,265
chr1	158176483	rs3087212	C	T	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.628;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.117;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087212;dbSNPBuildID=102;ANN=T|upstream_gene_variant|MODIFIER|CD1D|CD1D|transcript|NM_001766.3|protein_coding||c.-4619C>T|||||3464|,T|upstream_gene_variant|MODIFIER|CD1D|CD1D|transcript|NM_001319145.1|protein_coding||c.-4619C>T|||||3464|,T|intergenic_region|MODIFIER|LOC646268-CD1D|LOC646268-CD1D|intergenic_region|LOC646268-CD1D|||n.158176483C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1087;p3_1000G_AF=0.217053;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=18368;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158146273;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:383,0,313
chr1	158181428	rs859013	A	G	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.335;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.75;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=1.38;SOR=0.121;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs859013;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|CD1D|CD1D|transcript|NM_001766.3|protein_coding|2/6|c.62-27A>G||||||,G|intron_variant|MODIFIER|CD1D|CD1D|transcript|NM_001319145.1|protein_coding|2/5|c.62-27A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1112;p3_1000G_AF=0.222045;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=17492;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158151218;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=380,4024;ESP6500_AA_AGE=767.0+/-413.5;ESP6500_AA_GTC=18,344,1840;ESP6500_CDS_SIZES=NM_001766.3:1008;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=222;ESP6500_EA_AC=991,7599;ESP6500_EA_AGE=744.0+/-407.2;ESP6500_EA_GTC=69,853,3373;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001766.3:intron;ESP6500_GL=CD1D;ESP6500_GRCh38_POSITION=1:158181428;ESP6500_GTC=87,1197,5213;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001766.3:c.62-27A>G;ESP6500_MAF=11.5367,8.6285,10.551;ESP6500_TAC=1371,11623	GT:AD:DP:GQ:PL	0/1:13,8:21:99:183,0,365
chr1	158184206	rs426336	T	C	1166.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs426336;dbSNPBuildID=80;ANN=C|3_prime_UTR_variant|MODIFIER|CD1D|CD1D|transcript|NM_001766.3|protein_coding|7/7|c.*56T>C|||||56|,C|3_prime_UTR_variant|MODIFIER|CD1D|CD1D|transcript|NM_001319145.1|protein_coding|6/6|c.*56T>C|||||56|;p3_1000G_AA=C|||;p3_1000G_AC=4976;p3_1000G_AF=0.99361;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19574;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158153996;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1361,23;ESP6500_AA_GTC=670,21,1;ESP6500_CDS_SIZES=NM_001766.3:1008;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=97;ESP6500_EA_AC=3181,1;ESP6500_EA_GTC=1590,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001766.3:utr-3;ESP6500_GL=CD1D;ESP6500_GRCh38_POSITION=1:158184206;ESP6500_GTC=2260,22,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001766.3:c.*56T>C;ESP6500_MAF=0.0314,1.6618,0.5256;ESP6500_TAC=4542,24	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1195,90,0
chr1	158254785	rs200343605;rs565242912;rs764947101;rs878879369	CTGTGTG	C	592.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.34;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200343605;dbSNPBuildID=137,144,147,142;ANN=C|intron_variant|MODIFIER|CD1A|CD1A|transcript|NM_001763.2|protein_coding|1/5|c.58+101_58+106delTGTGTG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD1A|CD1A|transcript|NM_001320652.1|protein_coding|1/5|c.26-256_26-251delTGTGTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,8:8:49:501,49,0
chr1	158255035	rs411089	C	T	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.277;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=-0.998;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs411089;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|CD1A|CD1A|transcript|NM_001763.2|protein_coding|1/5|c.59-49C>T||||||,T|intron_variant|MODIFIER|CD1A|CD1A|transcript|NM_001320652.1|protein_coding|1/5|c.26-49C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2718;p3_1000G_AF=0.542732;p3_1000G_AFR_AF=0.7156;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=19912;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.2614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158224825;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5828;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2939,1467;ESP6500_AA_AGE=469.6+/-355.5;ESP6500_AA_GTC=974,991,238;ESP6500_CDS_SIZES=NM_001763.2:984;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=55;ESP6500_EA_AC=2389,6211;ESP6500_EA_AGE=696.4+/-404.9;ESP6500_EA_GTC=336,1717,2247;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001763.2:intron;ESP6500_GL=CD1A;ESP6500_GRCh38_POSITION=1:158255035;ESP6500_GTC=1310,2708,2485;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001763.2:c.59-49C>T;ESP6500_MAF=27.7791,33.2955,40.9657;ESP6500_TAC=5328,7678	GT:AD:DP:GQ:PL	0/1:13,5:18:99:132,0,462
chr1	158255114	rs2269714	C	T	632.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.67;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.466;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2269714;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|CD1A|CD1A|transcript|NM_001763.2|protein_coding|2/6|c.89C>T|p.Thr30Ile|622/2095|89/984|30/327||,T|missense_variant|MODERATE|CD1A|CD1A|transcript|NM_001320652.1|protein_coding|2/6|c.56C>T|p.Thr19Ile|114/1587|56/951|19/316||;p3_1000G_AA=c|||;p3_1000G_AC=823;p3_1000G_AF=0.164337;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=20620;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158224904;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=224,4182;ESP6500_AA_AGE=134.5+/-170.7;ESP6500_AA_GTC=7,210,1986;ESP6500_CDS_SIZES=NM_001763.2:984;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=120;ESP6500_EA_AC=496,8104;ESP6500_EA_AGE=143.0+/-199.1;ESP6500_EA_GTC=13,470,3817;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001763.2:missense;ESP6500_GL=CD1A;ESP6500_GRCh38_POSITION=1:158255114;ESP6500_GS=89;ESP6500_GTC=20,680,5803;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001763.2:c.89C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001763.2:p.(T30I);ESP6500_MAF=5.7674,5.084,5.5359;ESP6500_PH=benign:0.0;ESP6500_TAC=720,12286	GT:AD:DP:GQ:PL	0/1:28,26:54:99:661,0,908
chr1	158255229	rs2269715	C	G	1064.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.123;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=2.915;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.729;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2269715;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CD1A|CD1A|transcript|NM_001763.2|protein_coding|2/6|c.204C>G|p.Cys68Trp|737/2095|204/984|68/327||,G|missense_variant|MODERATE|CD1A|CD1A|transcript|NM_001320652.1|protein_coding|2/6|c.171C>G|p.Cys57Trp|229/1587|171/951|57/316||;p3_1000G_AA=G|||;p3_1000G_AC=823;p3_1000G_AF=0.164337;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=21023;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158225019;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=224,4182;ESP6500_AA_AGE=806.1+/-415.8;ESP6500_AA_GTC=7,210,1986;ESP6500_CDS_SIZES=NM_001763.2:984;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=106;ESP6500_EA_AC=496,8104;ESP6500_EA_AGE=797.1+/-407.5;ESP6500_EA_GTC=13,470,3817;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001763.2:missense;ESP6500_GL=CD1A;ESP6500_GRCh38_POSITION=1:158255229;ESP6500_GS=215;ESP6500_GTC=20,680,5803;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001763.2:c.204C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001763.2:p.(C68W);ESP6500_MAF=5.7674,5.084,5.5359;ESP6500_PH=benign:0.0;ESP6500_TAC=720,12286	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1093,0,1299
chr1	158255453	rs2269716	A	T	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.867;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.069;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2269716;dbSNPBuildID=100;ANN=T|sequence_feature|LOW|CD1A|CD1A|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001763.2|protein_coding|2/5|c.325+103A>T||||||,T|intron_variant|MODIFIER|CD1A|CD1A|transcript|NM_001763.2|protein_coding|2/5|c.325+103A>T||||||,T|intron_variant|MODIFIER|CD1A|CD1A|transcript|NM_001320652.1|protein_coding|2/5|c.292+103A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=823;p3_1000G_AF=0.164337;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=19900;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158225243;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:285,0,351
chr1	158328170	rs16840096	C	T	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.223;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-2.156;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16840096;dbSNPBuildID=123;ANN=T|3_prime_UTR_variant|MODIFIER|CD1B|CD1B|transcript|NM_001764.2|protein_coding|6/6|c.*66G>A|||||66|;p3_1000G_AA=C|||;p3_1000G_AC=971;p3_1000G_AF=0.19389;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=16119;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.1421;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158297960;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=79,1305;ESP6500_AA_GTC=4,71,617;ESP6500_CDS_SIZES=NM_001764.2:1002;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=164;ESP6500_EA_AC=371,2811;ESP6500_EA_GTC=21,329,1241;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001764.2:utr-3;ESP6500_GL=CD1B;ESP6500_GRCh38_POSITION=1:158328170;ESP6500_GTC=25,400,1858;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001764.2:c.*66G>A;ESP6500_MAF=11.6593,5.7081,9.8555;ESP6500_TAC=450,4116	GT:AD:DP:GQ:PL	0/1:14,11:25:99:256,0,340
chr1	158354635	rs1065457	A	G	412.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.4;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.328;SOR=1.414;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1065457;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|CD1E|CD1E|transcript|NM_030893.3|protein_coding|2/6|c.317A>G|p.Gln106Arg|610/2117|317/1167|106/388||,G|missense_variant|MODERATE|CD1E|CD1E|transcript|NM_001042583.2|protein_coding|2/6|c.317A>G|p.Gln106Arg|610/2081|317/1131|106/376||,G|missense_variant|MODERATE|CD1E|CD1E|transcript|NM_001042584.2|protein_coding|2/6|c.317A>G|p.Gln106Arg|610/2013|317/873|106/290||,G|missense_variant|MODERATE|CD1E|CD1E|transcript|NM_001042585.2|protein_coding|2/6|c.317A>G|p.Gln106Arg|610/1916|317/966|106/321||,G|missense_variant|MODERATE|CD1E|CD1E|transcript|NM_001185107.1|protein_coding|2/5|c.317A>G|p.Gln106Arg|610/1847|317/897|106/298||,G|missense_variant|MODERATE|CD1E|CD1E|transcript|NM_001185108.1|protein_coding|2/5|c.317A>G|p.Gln106Arg|610/1646|317/696|106/231||,G|missense_variant|MODERATE|CD1E|CD1E|transcript|NM_001185115.1|protein_coding|2/5|c.317A>G|p.Gln106Arg|610/1811|317/861|106/286||,G|intron_variant|MODIFIER|CD1E|CD1E|transcript|NM_001042586.2|protein_coding|1/3|c.58+589A>G||||||,G|intron_variant|MODIFIER|CD1E|CD1E|transcript|NM_001042587.2|protein_coding|1/3|c.58+589A>G||||||,G|intron_variant|MODIFIER|CD1E|CD1E|transcript|NM_001185110.1|protein_coding|1/3|c.58+589A>G||||||,G|intron_variant|MODIFIER|CD1E|CD1E|transcript|NM_001185112.1|protein_coding|1/3|c.58+589A>G||||||,G|intron_variant|MODIFIER|CD1E|CD1E|transcript|NM_001185113.1|protein_coding|1/3|c.58+589A>G||||||,G|intron_variant|MODIFIER|CD1E|CD1E|transcript|NM_001185114.1|protein_coding|1/4|c.58+589A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3087;p3_1000G_AF=0.616414;p3_1000G_AFR_AF=0.8964;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=22018;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.3579;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158324425;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3006,842;ESP6500_AA_GTC=1166,674,84;ESP6500_CDS_SIZES=NM_030893.3:1167,NM_001185115.1:861,NM_001185114.1:870,NM_001185113.1:435,NM_001185112.1:600,NM_001185110.1:399,NM_001185108.1:696,NM_001185107.1:897,NM_001042587.2:306,NM_001042586.2:564,NM_001042585.2:966,NM_001042584.2:873,NM_001042583.2:1131;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=63;ESP6500_EA_AC=2869,5465;ESP6500_EA_GTC=492,1885,1790;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030893.3:missense,NM_001185115.1:missense,NM_001185114.1:intron,NM_001185113.1:intron,NM_001185112.1:intron,NM_001185110.1:intron,NM_001185108.1:missense,NM_001185107.1:missense,NM_001042587.2:intron,NM_001042586.2:intron,NM_001042585.2:missense,NM_001042584.2:missense,NM_001042583.2:missense;ESP6500_GL=CD1E;ESP6500_GRCh38_POSITION=1:158354635;ESP6500_GS=43,43,.,.,.,.,43,43,.,.,43,43,43;ESP6500_GTC=1658,2559,1874;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_030893.3:c.317A>G,NM_001185115.1:c.317A>G,NM_001185114.1:c.58+589A>G,NM_001185113.1:c.58+589A>G,NM_001185112.1:c.58+589A>G,NM_001185110.1:c.58+589A>G,NM_001185108.1:c.317A>G,NM_001185107.1:c.317A>G,NM_001042587.2:c.58+589A>G,NM_001042586.2:c.58+589A>G,NM_001042585.2:c.317A>G,NM_001042584.2:c.317A>G,NM_001042583.2:c.317A>G;ESP6500_HGVS_PROTEIN_VAR=NM_030893.3:p.(Q106R),NM_001185115.1:p.(Q106R),.,.,.,.,NM_001185108.1:p.(Q106R),NM_001185107.1:p.(Q106R),.,.,NM_001042585.2:p.(Q106R),NM_001042584.2:p.(Q106R),NM_001042583.2:p.(Q106R);ESP6500_MAF=34.4252,21.8815,48.2269;ESP6500_PH=benign:0.0,benign:0.0,.,.,.,.,benign:0.0,benign:0.0,.,.,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=5875,6307	GT:AD:DP:GQ:PL	0/1:25,14:39:99:441,0,656
chr1	158466137	rs16840204	C	A	2387.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.114;ClippingRankSum=0;DP=190;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.013;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16840204;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|OR10K1|OR10K1|transcript|NM_001004473.1|protein_coding|1/1|c.576C>A|p.Ser192Ser|576/942|576/942|192/313||;p3_1000G_AA=C|||;p3_1000G_AC=158;p3_1000G_AF=0.0315495;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=24102;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158435927;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=7,4399;ESP6500_AA_AGE=11.4+/-27.6;ESP6500_AA_GTC=0,7,2196;ESP6500_CDS_SIZES=NM_001004473.1:942;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=178;ESP6500_EA_AC=21,8579;ESP6500_EA_AGE=16.0+/-53.3;ESP6500_EA_GTC=0,21,4279;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004473.1:coding-synonymous;ESP6500_GL=OR10K1;ESP6500_GRCh38_POSITION=1:158466137;ESP6500_GTC=0,28,6475;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004473.1:c.576C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004473.1:p.(S192);ESP6500_MAF=0.2442,0.1589,0.2153;ESP6500_TAC=28,12978	GT:AD:DP:GQ:PL	0/1:93,97:190:99:2416,0,2520
chr1	158607319	rs857685	A	C	1314.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.33;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=3.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.592;SOR=0.379;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857685;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|OR10Z1|OR10Z1|transcript|NM_001004478.1|protein_coding|1/1|c.881A>C|p.Asn294Thr|881/942|881/942|294/313||,C|downstream_gene_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding||c.*3945T>G|||||3387|;p3_1000G_AA=A|||;p3_1000G_AC=1213;p3_1000G_AF=0.242212;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=21019;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158577109;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=432,3974;ESP6500_AA_AGE=210.2+/-230.7;ESP6500_AA_GTC=16,400,1787;ESP6500_CDS_SIZES=NM_001004478.1:942;ESP6500_CG=5.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=182;ESP6500_EA_AC=2170,6430;ESP6500_EA_AGE=370.0+/-335.7;ESP6500_EA_GTC=290,1590,2420;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004478.1:missense;ESP6500_GL=OR10Z1;ESP6500_GRCh38_POSITION=1:158607319;ESP6500_GS=65;ESP6500_GTC=306,1990,4207;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004478.1:c.881A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004478.1:p.(N294T);ESP6500_MAF=25.2326,9.8048,20.0062;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=2602,10404	GT:AD:DP:GQ:PL	0/1:36,46:82:99:1343,0,895
chr1	158607377	rs2427808	A	T	698.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.33;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.17;SOR=0.861;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2427808;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|OR10Z1|OR10Z1|transcript|NM_001004478.1|protein_coding|1/1|c.939A>T|p.Gly313Gly|939/942|939/942|313/313||,T|downstream_gene_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding||c.*3887T>A|||||3329|;p3_1000G_AA=A|||;p3_1000G_AC=548;p3_1000G_AF=0.109425;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=19696;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.1332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158577167;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=306,4100;ESP6500_AA_AGE=165.1+/-196.6;ESP6500_AA_GTC=12,282,1909;ESP6500_CDS_SIZES=NM_001004478.1:942;ESP6500_CG=1.9;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=1113,7487;ESP6500_EA_AGE=229.7+/-264.3;ESP6500_EA_GTC=88,937,3275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004478.1:coding-synonymous;ESP6500_GL=OR10Z1;ESP6500_GRCh38_POSITION=1:158607377;ESP6500_GTC=100,1219,5184;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004478.1:c.939A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004478.1:p.(G313);ESP6500_MAF=12.9419,6.9451,10.9103;ESP6500_TAC=1419,11587	GT:AD:DP:GQ:PL	0/1:29,25:54:99:727,0,779
chr1	158611131	rs66981873;292930	GCA	G	1142.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=5.27;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.84;ReadPosRankSum=0.126;SOR=3.352;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs68118007,rs66981873;dbSNPBuildID=132;ANN=G|3_prime_UTR_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|52/52|c.*131_*132delTG|||||131|,G|downstream_gene_variant|MODIFIER|OR10Z1|OR10Z1|transcript|NM_001004478.1|protein_coding||c.*3752_*3753delCA|||||3752|;CLINVAR_ALLELEID=276949;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158611132_158611133delCA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:559697;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=66981873	GT:AD:DP:GQ:PL	1/0:2,23:25:99:1180,552,852
chr1	158611131	.	GCA	GCACA	1142.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=5.27;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.84;ReadPosRankSum=0.126;SOR=3.352;INS;HET;VARTYPE=INS;ANN=GCACA|3_prime_UTR_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|52/52|c.*129_*130dupTG|||||130|,GCACA|downstream_gene_variant|MODIFIER|OR10Z1|OR10Z1|transcript|NM_001004478.1|protein_coding||c.*3752_*3753dupCA|||||3754|	GT:AD:DP:GQ:PL	0/1:2,21:23:99:1180,705,939
chr1	158612753	rs2251963	G	A	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.584;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.55;ReadPosRankSum=1.29;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2251963;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|51/51|c.7134+64C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1387;p3_1000G_AF=0.276957;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=17496;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158582543;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,11:14:99:0|1:158612753_G_A:442,0,213
chr1	158612762	rs2251964	G	A	429.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.222;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.28;ReadPosRankSum=1.83;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2251964;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|51/51|c.7134+55C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1387;p3_1000G_AF=0.276957;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=17824;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158582552;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,12:17:99:0|1:158612753_G_A:458,0,284
chr1	158612856	rs2251969;258958	T	C	381.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.964;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.556;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-1.143;SOR=0.357;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2251969;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|51/52|c.7095A>G|p.Ala2365Ala|7294/8017|7095/7260|2365/2419||;p3_1000G_AA=C|||;p3_1000G_AC=2528;p3_1000G_AF=0.504792;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=19129;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158582646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1681,2167;ESP6500_AA_GTC=361,959,604;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=126;ESP6500_EA_AC=4498,3782;ESP6500_EA_GTC=1247,2004,889;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:coding-synonymous;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158612856;ESP6500_GTC=1608,2963,1493;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.7095A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(A2365);ESP6500_MAF=45.6763,43.685,49.0518;ESP6500_TAC=6179,5949;CLINVAR_ALLELEID=249424;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158612856T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:20332|Illumina_Clinical_Services_Laboratory,Illumina:2624;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2251969	GT:AD:DP:GQ:PL	0/1:17,15:32:99:410,0,458
chr1	158613048	rs2157691	G	C	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.674;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2157691;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|50/51|c.6990-87C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1263;p3_1000G_AF=0.252196;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=19191;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.2773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158582838;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:71:71,0,112
chr1	158614301	rs952094;258957	A	G	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.227;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=1.32;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs952094;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|49/52|c.6794T>C|p.Ile2265Thr|6993/8017|6794/7260|2265/2419||;p3_1000G_AA=G|||;p3_1000G_AC=2535;p3_1000G_AF=0.50619;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=17099;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158584091;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1554,2056;ESP6500_AA_GTC=323,908,574;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=1.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=65;ESP6500_EA_AC=4396,3734;ESP6500_EA_GTC=1214,1968,883;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003126.2:missense;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158614301;ESP6500_GS=89;ESP6500_GTC=1537,2876,1457;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.6794T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(I2265T);ESP6500_MAF=45.9287,43.0471,49.3186;ESP6500_PH=benign:0.0;ESP6500_TAC=5950,5790;CLINVAR_ALLELEID=249425;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158614301A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:20334|Illumina_Clinical_Services_Laboratory,Illumina:2635|UniProtKB_(protein):P02549#VAR_059201;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=952094	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,8:15:99:0|1:158614301_A_G:267,0,275
chr1	158614313	rs386368439;rs57778257;rs5778083;292947	G	GAA	194.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.34;ReadPosRankSum=1.29;SOR=0.582;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57778257,rs373704896,rs5778083;dbSNPBuildID=130,138,129;ANN=GAA|splice_region_variant&intron_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|48/51|c.6789-9_6789-8dupTT||||||;p3_1000G_AC=1198;p3_1000G_AF=0.239217;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=21311;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.2555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158584103;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=276686;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158614314_158614315dupAA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:561818;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5778083	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:99:0|1:158614301_A_G:232,0,190
chr1	158615440	rs2518491	C	T	468.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.898;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.716;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.049;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2518491;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|47/51|c.6601-37G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1160;p3_1000G_AF=0.231629;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=18742;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158585230;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=346,3368;ESP6500_AA_GTC=11,324,1522;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=2160,6038;ESP6500_EA_GTC=300,1560,2239;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158615440;ESP6500_GTC=311,1884,3761;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.6601-37G>A;ESP6500_MAF=26.3479,9.3161,21.0376;ESP6500_TAC=2506,9406	GT:AD:DP:GQ:PL	0/1:11,21:32:99:497,0,302
chr1	158617600	rs857716;258955	C	T	596.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.173;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=2.01;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857716;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|46/51|c.6549-12G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2459;p3_1000G_AF=0.491014;p3_1000G_AFR_AF=0.3699;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=20852;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.5626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158587390;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1406,2366;ESP6500_AA_GTC=248,910,728;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=90;ESP6500_EA_AC=4413,3807;ESP6500_EA_GTC=1210,1993,907;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158617600;ESP6500_GTC=1458,2903,1635;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.6549-12G>A;ESP6500_MAF=46.3139,37.2747,48.524;ESP6500_TAC=5819,6173;CLINVAR_AF_ESP=0.4852;CLINVAR_AF_TGP=0.4910;CLINVAR_ALLELEID=249427;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158617600C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2641;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=857716	GT:AD:DP:GQ:PL	0/1:33,25:58:99:625,0,877
chr1	158617994	rs857717	T	G	757.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs857717;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|46/51|c.6548+45A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19598;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158587784;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3607,7;ESP6500_AA_GTC=1800,7,0;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=45;ESP6500_EA_AC=8157,1;ESP6500_EA_GTC=4078,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158617994;ESP6500_GTC=5878,8,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.6548+45A>C;ESP6500_MAF=0.0123,0.1937,0.068;ESP6500_TAC=11764,8	GT:AD:DP:GQ:PL	1/1:0,21:21:63:786,63,0
chr1	158637998	rs2518492	T	G	526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2518492;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|36/51|c.5189+35A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21078;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158607788;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3743,9;ESP6500_AA_GTC=1867,9,0;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=108;ESP6500_EA_AC=8219,1;ESP6500_EA_GTC=4109,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158637998;ESP6500_GTC=5976,10,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.5189+35A>C;ESP6500_MAF=0.0122,0.2399,0.0835;ESP6500_TAC=11962,10	GT:AD:DP:GQ:PL	1/1:0,16:16:48:555,48,0
chr1	158638145	rs857725;258943	T	G	515.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.809;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=6.641;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.049;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857725;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|36/52|c.5077A>C|p.Lys1693Gln|5276/8017|5077/7260|1693/2419||;p3_1000G_AA=T|||;p3_1000G_AC=1230;p3_1000G_AF=0.245607;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=19957;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.2763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158607935;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=467,3331;ESP6500_AA_GTC=24,419,1456;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-5.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=105;ESP6500_EA_AC=2159,6069;ESP6500_EA_GTC=302,1555,2257;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003126.2:missense;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158638145;ESP6500_GS=53;ESP6500_GTC=326,1974,3713;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.5077A>C;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(K1693Q);ESP6500_MAF=26.2397,12.2959,21.836;ESP6500_PH=benign:0.0;ESP6500_TAC=2626,9400;CLINVAR_AF_ESP=0.2184;CLINVAR_AF_EXAC=0.27368;CLINVAR_AF_TGP=0.2456;CLINVAR_ALLELEID=249439;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158638145T>G;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(1),Likely_benign(3),Uncertain_significance(1);CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:20359|Illumina_Clinical_Services_Laboratory,Illumina:47633|UniProtKB_(protein):P02549#VAR_059199;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=857725	GT:AD:DP:GQ:PL	0/1:21,20:41:99:544,0,538
chr1	158642446	rs863931;258942	A	G	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.878;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.892;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs863931;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|33/52|c.4702T>C|p.Cys1568Arg|4901/8017|4702/7260|1568/2419||;p3_1000G_AA=G|||;p3_1000G_AC=2975;p3_1000G_AF=0.59405;p3_1000G_AFR_AF=0.6853;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=13150;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.5865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158612236;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2688,1274;ESP6500_AA_GTC=915,858,208;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=1.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=105;ESP6500_EA_AC=4689,3653;ESP6500_EA_GTC=1346,1997,828;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003126.2:missense;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158642446;ESP6500_GS=180;ESP6500_GTC=2261,2855,1036;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.4702T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(C1568R);ESP6500_MAF=43.7905,32.1555,40.0439;ESP6500_PH=benign:0.0;ESP6500_TAC=7377,4927;CLINVAR_ALLELEID=249440;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158642446A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:20362|Illumina_Clinical_Services_Laboratory,Illumina:2698|UniProtKB_(protein):P02549#VAR_038512;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=863931	GT:AD:DP:GQ:PL	0/1:21,22:43:99:464,0,409
chr1	158642758	rs857721	T	A	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.47;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=4.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-2.307;SOR=2.049;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857721;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|32/51|c.4605+56A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1188;p3_1000G_AF=0.23722;p3_1000G_AFR_AF=0.0719;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=18788;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158612548;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,13:32:99:1|0:158642753_G_T:434,0,558
chr1	158648433	rs857677	C	T	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.786;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.04;ReadPosRankSum=0.913;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857677;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|26/51|c.3714+76G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2725;p3_1000G_AF=0.544129;p3_1000G_AFR_AF=0.5946;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=16347;p3_1000G_EAS_AF=0.5883;p3_1000G_EUR_AF=0.5606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158618223;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:143,0,382
chr1	158648665	rs2246434;258930	G	A	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.963;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.193;SOR=0.732;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2246434;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|25/51|c.3570-12C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1143;p3_1000G_AF=0.228235;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=12527;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.2465;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158618455;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=475,3411;ESP6500_AA_GTC=23,429,1491;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=2002,6294;ESP6500_EA_GTC=268,1466,2414;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158648665;ESP6500_GTC=291,1895,3905;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.3570-12C>T;ESP6500_MAF=24.1321,12.2234,20.3333;ESP6500_TAC=2477,9705;CLINVAR_AF_ESP=0.2033;CLINVAR_AF_EXAC=0.25339;CLINVAR_AF_TGP=0.2282;CLINVAR_ALLELEID=249450;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158648665G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:48206;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2246434	GT:AD:DP:GQ:PL	0/1:14,9:23:99:272,0,416
chr1	158649938	rs2482965;258929	A	C	2085.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=0.886;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2482965;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|25/52|c.3487T>G|p.Ser1163Ala|3686/8017|3487/7260|1163/2419||;p3_1000G_AA=C|||;p3_1000G_AC=4981;p3_1000G_AF=0.994609;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17727;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158619728;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3642,72;ESP6500_AA_GTC=1788,66,3;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-1.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=8218,0;ESP6500_EA_GTC=4109,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003126.2:missense;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158649938;ESP6500_GS=99;ESP6500_GTC=5897,66,3;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.3487T>G;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(S1163A);ESP6500_MAF=0.0,1.9386,0.6034;ESP6500_PH=benign:0.0;ESP6500_TAC=11860,72;CLINVAR_ALLELEID=249451;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158649938A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16028|Illumina_Clinical_Services_Laboratory,Illumina:2608|UniProtKB_(protein):P02549#VAR_038510;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2482965	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2114,198,0
chr1	158650032	rs857689	A	C	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=5.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=2.12;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857689;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|24/51|c.3478-85T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2093;p3_1000G_AF=0.417931;p3_1000G_AFR_AF=0.7723;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=20107;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.2555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158619822;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,18:25:99:548,0,152
chr1	158651447	rs768966753	G	A	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.325;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=2.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.001;SOR=1;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|24/52|c.3397C>T|p.Arg1133Trp|3596/8017|3397/7260|1133/2419||	GT:AD:DP:GQ:PL	0/1:19,17:36:99:464,0,527
chr1	158656588	rs857691;258926	C	T	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.346;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-2.098;SOR=1.192;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857691;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|20/52|c.2874G>A|p.Leu958Leu|3073/8017|2874/7260|958/2419||;p3_1000G_AA=T|||;p3_1000G_AC=2121;p3_1000G_AF=0.423522;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=16600;p3_1000G_EAS_AF=0.4087;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158626378;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2587,1125;ESP6500_AA_GTC=905,777,174;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=170;ESP6500_EA_AC=2017,6169;ESP6500_EA_GTC=273,1471,2349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:coding-synonymous;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158656588;ESP6500_GTC=1178,2248,2523;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.2874G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(L958);ESP6500_MAF=24.6396,30.3071,38.6956;ESP6500_TAC=4604,7294;CLINVAR_AF_ESP=0.3870;CLINVAR_AF_EXAC=0.30927;CLINVAR_AF_TGP=0.4235;CLINVAR_ALLELEID=249454;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158656588C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:20371|Illumina_Clinical_Services_Laboratory,Illumina:48245;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=857691	GT:AD:DP:GQ:PL	0/1:11,11:22:99:290,0,266
chr1	158661381	rs2518493;258922	A	C	601.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.19;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.411;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.075;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2518493;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|18/52|c.2493T>G|p.Leu831Leu|2692/8017|2493/7260|831/2419||;p3_1000G_AA=A|||;p3_1000G_AC=1220;p3_1000G_AF=0.24361;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=17801;p3_1000G_EAS_AF=0.4087;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158631171;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=691,3077;ESP6500_AA_GTC=57,577,1250;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=153;ESP6500_EA_AC=2016,6228;ESP6500_EA_GTC=274,1468,2380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:coding-synonymous;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158661381;ESP6500_GTC=331,2045,3630;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.2493T>G;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(L831);ESP6500_MAF=24.4541,18.3386,22.5358;ESP6500_TAC=2707,9305;CLINVAR_AF_ESP=0.2254;CLINVAR_AF_EXAC=0.26240;CLINVAR_AF_TGP=0.2436;CLINVAR_ALLELEID=249458;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158661381A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:20372|Illumina_Clinical_Services_Laboratory,Illumina:48266;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2518493	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,20:42:99:0|1:158661381_A_C:630,0,601
chr1	158668075	rs140998442;293028	GAAA	G	717.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.75;ReadPosRankSum=0.92;SOR=0.804;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs140998442,rs3039789;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|14/51|c.1834-16_1834-14delTTT||||||;CLINVAR_AF_EXAC=0.11251;CLINVAR_ALLELEID=276726;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158668076_158668078delAAA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:561820;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=140998442	GT:AD:DP:GQ:PL	0/1:3,17:20:99:755,0,142
chr1	158669811	rs2298801	A	G	378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.04;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-1.809;SOR=1.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298801;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|12/51|c.1600-25T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1889;p3_1000G_AF=0.377196;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=20207;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.4612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158639601;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1076,2624;ESP6500_AA_GTC=159,758,933;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=4111,4081;ESP6500_EA_GTC=1009,2093,994;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158669811;ESP6500_GTC=1168,2851,1927;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.1600-25T>C;ESP6500_MAF=49.8169,29.0811,43.6176;ESP6500_TAC=5187,6705	GT:AD:DP:GQ:PL	0/1:19,14:33:99:407,0,407
chr1	158674315	rs703116;258917	T	A	769.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.6;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-1.522;SOR=0.538;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs703116;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|10/51|c.1350+14A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1774;p3_1000G_AF=0.354233;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=21036;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.3767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158644105;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=485,3205;ESP6500_AA_GTC=31,423,1391;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=126;ESP6500_EA_AC=3396,4778;ESP6500_EA_GTC=695,2006,1386;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158674315;ESP6500_GTC=726,2429,2777;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.1350+14A>T;ESP6500_MAF=41.5464,13.1436,32.7124;ESP6500_TAC=3881,7983;CLINVAR_AF_ESP=0.3271;CLINVAR_AF_EXAC=0.39991;CLINVAR_AF_TGP=0.3542;CLINVAR_ALLELEID=249462;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158674315T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2619;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=703116	GT:AD:DP:GQ:PL	0/1:33,32:65:99:798,0,703
chr1	158677705	rs325996;258962	A	T	1397.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=0.78;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs325996;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|7/52|c.942T>A|p.Ala314Ala|1141/8017|942/7260|314/2419||;p3_1000G_AA=T|||;p3_1000G_AC=4792;p3_1000G_AF=0.956869;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=19572;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158647495;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3450,490;ESP6500_AA_GTC=1511,428,31;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-5.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=84;ESP6500_EA_AC=8288,24;ESP6500_EA_GTC=4132,24,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:coding-synonymous;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158677705;ESP6500_GTC=5643,452,31;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.942T>A;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(A314);ESP6500_MAF=0.2887,12.4365,4.1952;ESP6500_TAC=11738,514;CLINVAR_ALLELEID=249465;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158677705A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16029|Illumina_Clinical_Services_Laboratory,Illumina:2630;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=325996	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1426,138,0
chr1	158677732	rs703121;258961	A	G	767.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=-1.55;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs703121;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|7/52|c.915T>C|p.Ser305Ser|1114/8017|915/7260|305/2419||;p3_1000G_AA=A|||;p3_1000G_AC=2273;p3_1000G_AF=0.453874;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=19106;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.6153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158647522;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1077,2837;ESP6500_AA_GTC=152,773,1032;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=93;ESP6500_EA_AC=4759,3543;ESP6500_EA_GTC=1358,2043,750;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:coding-synonymous;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158677732;ESP6500_GTC=1510,2816,1782;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.915T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(S305);ESP6500_MAF=42.6765,27.5166,47.7734;ESP6500_TAC=5836,6380;CLINVAR_AF_ESP=0.4777;CLINVAR_AF_TGP=0.4539;CLINVAR_ALLELEID=249466;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158677732A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:20377|Illumina_Clinical_Services_Laboratory,Illumina:2742;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=703121	GT:AD:DP:GQ:PL	0/1:20,28:48:99:796,0,486
chr1	158677841	rs325995;258959	T	A	860.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs325995;dbSNPBuildID=79;ANN=A|splice_region_variant&intron_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|6/51|c.813-7A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4792;p3_1000G_AF=0.956869;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20247;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158647631;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3494,492;ESP6500_AA_GTC=1532,430,31;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=83;ESP6500_EA_AC=8308,24;ESP6500_EA_GTC=4142,24,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158677841;ESP6500_GTC=5674,454,31;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.813-7A>T;ESP6500_MAF=0.288,12.3432,4.189;ESP6500_TAC=11802,516;CLINVAR_ALLELEID=249468;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158677841T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16030|Illumina_Clinical_Services_Laboratory,Illumina:2638;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=325995	GT:AD:DP:GQ:PL	1/1:0,28:28:84:889,84,0
chr1	158677879	rs703122	T	C	280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.19;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=9.118;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.324;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs703122;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|6/51|c.813-45A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2273;p3_1000G_AF=0.453874;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=22855;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.6153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158647669;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1101,2889;ESP6500_AA_GTC=156,789,1050;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=58;ESP6500_EA_AC=4771,3563;ESP6500_EA_GTC=1357,2057,753;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158677879;ESP6500_GTC=1513,2846,1803;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.813-45A>G;ESP6500_MAF=42.7526,27.594,47.6469;ESP6500_TAC=5872,6452	GT:AD:DP:GQ:PL	0/1:16,9:25:99:309,0,423
chr1	158685062	rs857937	A	G	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=2.178;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=1.04;SOR=0.238;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857937;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|2/51|c.264+46T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2299;p3_1000G_AF=0.459065;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=18276;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.6143;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158654852;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1095,2589;ESP6500_AA_GTC=162,771,909;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=76;ESP6500_EA_AC=4696,3502;ESP6500_EA_GTC=1339,2018,742;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158685062;ESP6500_GTC=1501,2789,1651;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.264+46T>C;ESP6500_MAF=42.7177,29.7231,48.7376;ESP6500_TAC=5791,6091	GT:AD:DP:GQ:PL	0/1:20,8:28:99:224,0,574
chr1	158685246	rs435080;258916	G	A	2622.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs435080;dbSNPBuildID=80;ANN=A|synonymous_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|2/52|c.126C>T|p.Val42Val|325/8017|126/7260|42/2419||;p3_1000G_AA=G|||;p3_1000G_AC=4857;p3_1000G_AF=0.969848;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16904;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158655036;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3528,322;ESP6500_AA_GTC=1616,296,13;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=121;ESP6500_EA_AC=8269,3;ESP6500_EA_GTC=4133,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:coding-synonymous;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158685246;ESP6500_GTC=5749,299,13;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.126C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003126.2:p.(V42);ESP6500_MAF=0.0363,8.3636,2.6811;ESP6500_TAC=11797,325;CLINVAR_ALLELEID=249471;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158685246G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16031|Illumina_Clinical_Services_Laboratory,Illumina:2647;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=435080	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2651,276,0
chr1	158685372	rs2564859	C	A	1559.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=2.059;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2564859;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|1/51|c.25-25G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4857;p3_1000G_AF=0.969848;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=17890;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158655162;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3379,311;ESP6500_AA_GTC=1547,285,13;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=75;ESP6500_EA_AC=8203,3;ESP6500_EA_GTC=4100,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158685372;ESP6500_GTC=5647,288,13;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.25-25G>T;ESP6500_MAF=0.0366,8.4282,2.6395;ESP6500_TAC=11582,314	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1588,135,0
chr1	158686356	rs376249566;rs66555443;rs71579626	TTAAAAG	T	127.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.55;ReadPosRankSum=0.524;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71579626,rs376249566,rs66555443;dbSNPBuildID=134,130,138;ANN=T|intron_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|1/51|c.24+132_24+137delCTTTTA||||||;p3_1000G_AC=1273;p3_1000G_AF=0.254193;p3_1000G_AFR_AF=0.0582;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=17780;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.3777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158656146;p3_1000G_GRCH37_REF=TTAAAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,4:5:67:165,0,67
chr1	158686491	rs2564858;258920	T	C	378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2564858;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|1/51|c.24+3A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4857;p3_1000G_AF=0.969848;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=15642;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158656281;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3276,312;ESP6500_AA_GTC=1496,284,14;ESP6500_CDS_SIZES=NM_003126.2:7260;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=8131,3;ESP6500_EA_GTC=4064,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003126.2:intron;ESP6500_GL=SPTA1;ESP6500_GRCh38_POSITION=1:158686491;ESP6500_GTC=5560,287,14;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003126.2:c.24+3A>G;ESP6500_MAF=0.0369,8.6957,2.6873;ESP6500_TAC=11407,315;CLINVAR_ALLELEID=249472;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004445,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004839,MedGen:C0520739,OMIM:266140,SNOMED_CT:9434008|MedGen:CN169374|MedGen:CN239472;CLINVAR_CLNDN=Elliptocytosis|Hereditary_pyropoikilocytosis|not_specified|Spherocytosis,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.158686491T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16032|Illumina_Clinical_Services_Laboratory,Illumina:2655;CLINVAR_GENEINFO=SPTA1:6708;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2564858	GT:AD:DP:GQ:PL	1/1:0,12:12:36:407,36,0
chr1	158686557	rs111674514	C	CAGAG	152.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=36.84;SOR=1.022;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs111674514,rs60465109;dbSNPBuildID=132;ANN=CAGAG|5_prime_UTR_variant|MODIFIER|SPTA1|SPTA1|transcript|NM_003126.2|protein_coding|1/52|c.-44_-41dupCTCT|||||41|	GT:AD:DP:GQ:PL	1/1:0,3:3:12:137,12,0
chr1	158717373	rs28568406	G	A	1928.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.824;ClippingRankSum=0;DP=131;ExcessHet=3.0103;FS=6.605;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=-1.034;SOR=0.438;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28568406;dbSNPBuildID=125;ANN=A|missense_variant|MODERATE|OR6K3|OR6K3|transcript|NM_001005327.2|protein_coding|1/1|c.743C>T|p.Pro248Leu|743/948|743/948|248/315||;p3_1000G_AA=A|||;p3_1000G_AC=1948;p3_1000G_AF=0.388978;p3_1000G_AFR_AF=0.4773;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=22981;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.3966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158687163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2096,2310;ESP6500_AA_AGE=603.5+/-390.1;ESP6500_AA_GTC=496,1104,603;ESP6500_CDS_SIZES=NM_001005327.2:948;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=118;ESP6500_EA_AC=3256,5344;ESP6500_EA_AGE=649.7+/-400.6;ESP6500_EA_GTC=613,2030,1657;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005327.2:missense;ESP6500_GL=OR6K3;ESP6500_GRCh38_POSITION=1:158717373;ESP6500_GS=98;ESP6500_GTC=1109,3134,2260;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001005327.2:c.743C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005327.2:p.(P248L);ESP6500_MAF=37.8605,47.5715,41.1502;ESP6500_PH=benign:0.001;ESP6500_TAC=5352,7654	GT:AD:DP:GQ:PL	0/1:61,70:131:99:1957,0,1612
chr1	158717434	rs857703	G	A	1785.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.228;ClippingRankSum=0;DP=149;ExcessHet=3.0103;FS=13.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.079;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs857703;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|OR6K3|OR6K3|transcript|NM_001005327.2|protein_coding|1/1|c.682C>T|p.Pro228Ser|682/948|682/948|228/315||;p3_1000G_AA=G|||;p3_1000G_AC=1404;p3_1000G_AF=0.280351;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=23447;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.3946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158687224;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=589,3817;ESP6500_AA_AGE=259.5+/-263.1;ESP6500_AA_GTC=47,495,1661;ESP6500_CDS_SIZES=NM_001005327.2:948;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=100;ESP6500_EA_AC=3247,5353;ESP6500_EA_AGE=487.5+/-372.1;ESP6500_EA_GTC=610,2027,1663;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005327.2:missense;ESP6500_GL=OR6K3;ESP6500_GRCh38_POSITION=1:158717434;ESP6500_GS=74;ESP6500_GTC=657,2522,3324;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001005327.2:c.682C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005327.2:p.(P228S);ESP6500_MAF=37.7558,13.3681,29.4941;ESP6500_PH=benign:0.08;ESP6500_TAC=3836,9170	GT:AD:DP:GQ:PL	0/1:76,73:149:99:1814,0,2283
chr1	158765805	rs857824	C	T	2121.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.054;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs857824;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|OR6N1|OR6N1|transcript|NM_001005185.1|protein_coding|1/1|c.878G>A|p.Arg293His|878/939|878/939|293/312||,T|sequence_feature|LOW|OR6N1|OR6N1|topological-domain:Cytoplasmic|NM_001005185.1|protein_coding|1/1|c.878G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3345;p3_1000G_AF=0.667931;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=21103;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.7217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158735595;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3435,971;ESP6500_AA_AGE=733.7+/-410.5;ESP6500_AA_GTC=1328,779,96;ESP6500_CDS_SIZES=NM_001005185.1:939;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=153;ESP6500_EA_AC=6163,2437;ESP6500_EA_AGE=698.7+/-405.0;ESP6500_EA_GTC=2218,1727,355;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005185.1:missense;ESP6500_GL=OR6N1;ESP6500_GRCh38_POSITION=1:158765805;ESP6500_GS=29;ESP6500_GTC=3546,2506,451;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001005185.1:c.878G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001005185.1:p.(R293H);ESP6500_MAF=28.3372,22.0381,26.2033;ESP6500_PH=benign:0.217;ESP6500_TAC=9598,3408	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2150,207,0
chr1	158765901	rs857825	T	C	2405.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs857825;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|OR6N1|OR6N1|transcript|NM_001005185.1|protein_coding|1/1|c.782A>G|p.Gln261Arg|782/939|782/939|261/312||;p3_1000G_AA=C|||;p3_1000G_AC=3345;p3_1000G_AF=0.667931;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=20920;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.7217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158735691;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3436,970;ESP6500_AA_AGE=365.1+/-317.3;ESP6500_AA_GTC=1329,778,96;ESP6500_CDS_SIZES=NM_001005185.1:939;ESP6500_CG=4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=172;ESP6500_EA_AC=6162,2438;ESP6500_EA_AGE=402.3+/-347.4;ESP6500_EA_GTC=2217,1728,355;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005185.1:missense;ESP6500_GL=OR6N1;ESP6500_GRCh38_POSITION=1:158765901;ESP6500_GS=43;ESP6500_GTC=3546,2506,451;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005185.1:c.782A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001005185.1:p.(Q261R);ESP6500_MAF=28.3488,22.0154,26.2033;ESP6500_PH=benign:0.0;ESP6500_TAC=9598,3408	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2434,216,0
chr1	158765950	rs857826	A	G	2660.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs857826;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|OR6N1|OR6N1|transcript|NM_001005185.1|protein_coding|1/1|c.733T>C|p.Phe245Leu|733/939|733/939|245/312||;p3_1000G_AA=G|||;p3_1000G_AC=3345;p3_1000G_AF=0.667931;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=20507;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.7217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158735740;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3436,970;ESP6500_AA_AGE=365.1+/-317.3;ESP6500_AA_GTC=1329,778,96;ESP6500_CDS_SIZES=NM_001005185.1:939;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=160;ESP6500_EA_AC=6162,2438;ESP6500_EA_AGE=402.2+/-347.4;ESP6500_EA_GTC=2217,1728,355;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005185.1:missense;ESP6500_GL=OR6N1;ESP6500_GRCh38_POSITION=1:158765950;ESP6500_GS=22;ESP6500_GTC=3546,2506,451;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001005185.1:c.733T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005185.1:p.(F245L);ESP6500_MAF=28.3488,22.0154,26.2033;ESP6500_PH=benign:0.0;ESP6500_TAC=9598,3408	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2689,240,0
chr1	158766102	rs857827	A	G	1777.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.067;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs857827;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|OR6N1|OR6N1|transcript|NM_001005185.1|protein_coding|1/1|c.581T>C|p.Ile194Thr|581/939|581/939|194/312||;p3_1000G_AA=A|||;p3_1000G_AC=3345;p3_1000G_AF=0.667931;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=20865;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.7217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158735892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3436,970;ESP6500_AA_AGE=731.3+/-410.3;ESP6500_AA_GTC=1329,778,96;ESP6500_CDS_SIZES=NM_001005185.1:939;ESP6500_CG=3.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=109;ESP6500_EA_AC=6162,2438;ESP6500_EA_AGE=697.1+/-404.9;ESP6500_EA_GTC=2217,1728,355;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005185.1:missense;ESP6500_GL=OR6N1;ESP6500_GRCh38_POSITION=1:158766102;ESP6500_GS=89;ESP6500_GTC=3546,2506,451;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001005185.1:c.581T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005185.1:p.(I194T);ESP6500_MAF=28.3488,22.0154,26.2033;ESP6500_PH=benign:0.001;ESP6500_TAC=9598,3408	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1806,144,0
chr1	158766425	rs6666753	G	A	1882.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=0.726;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6666753;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|OR6N1|OR6N1|transcript|NM_001005185.1|protein_coding|1/1|c.258C>T|p.Leu86Leu|258/939|258/939|86/312||;p3_1000G_AA=G|||;p3_1000G_AC=4069;p3_1000G_AF=0.8125;p3_1000G_AFR_AF=0.73;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=20359;p3_1000G_EAS_AF=0.9087;p3_1000G_EUR_AF=0.9473;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158736215;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3258,1148;ESP6500_AA_AGE=714.6+/-408.4;ESP6500_AA_GTC=1193,872,138;ESP6500_CDS_SIZES=NM_001005185.1:939;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=77;ESP6500_EA_AC=7984,616;ESP6500_EA_AGE=791.9+/-407.5;ESP6500_EA_GTC=3713,558,29;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005185.1:coding-synonymous;ESP6500_GL=OR6N1;ESP6500_GRCh38_POSITION=1:158766425;ESP6500_GTC=4906,1430,167;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001005185.1:c.258C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005185.1:p.(L86);ESP6500_MAF=7.1628,26.0554,13.563;ESP6500_TAC=11242,1764	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1911,177,0
chr1	158766655	rs1864346	C	T	1148.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.949;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1864346;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|OR6N1|OR6N1|transcript|NM_001005185.1|protein_coding|1/1|c.28G>A|p.Ala10Thr|28/939|28/939|10/312||;p3_1000G_AA=T|||;p3_1000G_AC=1233;p3_1000G_AF=0.246206;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=20003;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158736445;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=280,4126;ESP6500_AA_AGE=783.8+/-414.6;ESP6500_AA_GTC=9,262,1932;ESP6500_CDS_SIZES=NM_001005185.1:939;ESP6500_CG=2.5;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=44;ESP6500_EA_AC=2756,5844;ESP6500_EA_AGE=662.9+/-402.0;ESP6500_EA_GTC=455,1846,1999;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005185.1:missense;ESP6500_GL=OR6N1;ESP6500_GRCh38_POSITION=1:158766655;ESP6500_GS=58;ESP6500_GTC=464,2108,3931;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001005185.1:c.28G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001005185.1:p.(A10T);ESP6500_MAF=32.0465,6.355,23.3431;ESP6500_PH=benign:0.0;ESP6500_TAC=3036,9970	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1177,107,0
chr1	158766727	rs1864347	A	T	474.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.91;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1864347;dbSNPBuildID=92;ANN=T|upstream_gene_variant|MODIFIER|OR6N1|OR6N1|transcript|NM_001005185.1|protein_coding||c.-45T>A|||||45|,T|intergenic_region|MODIFIER|OR6N1-OR6N2|OR6N1-OR6N2|intergenic_region|OR6N1-OR6N2|||n.158766727A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1233;p3_1000G_AF=0.246206;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=19344;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158736517;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=277,4111;ESP6500_AA_GTC=12,253,1929;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=12;ESP6500_EA_AC=2672,5878;ESP6500_EA_GTC=441,1790,2044;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:158766727;ESP6500_GTC=453,2043,3973;ESP6500_GTS=TT,TA,AA;ESP6500_MAF=31.2515,6.3127,22.7933;ESP6500_TAC=2949,9989	GT:AD:DP:GQ:PL	1/1:0,14:14:42:503,42,0
chr1	158777025	rs12027473	G	A	1146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.136;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0.827;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.956;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12027473;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|OR6N2|OR6N2|transcript|NM_001005278.1|protein_coding|1/1|c.611C>T|p.Ala204Val|611/954|611/954|204/317||;p3_1000G_AA=G|||;p3_1000G_AC=48;p3_1000G_AF=0.00958466;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=24533;p3_1000G_EAS_AF=0.0476;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158746815;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1175,0,1103
chr1	158844029	rs857870	A	G	2089.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.41;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs857870;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|MNDA|MNDA|transcript|NM_002432.1|protein_coding|4/7|c.477A>G|p.Pro159Pro|677/1667|477/1224|159/407||;p3_1000G_AA=a|||;p3_1000G_AC=2645;p3_1000G_AF=0.528155;p3_1000G_AFR_AF=0.3071;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=17925;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.5825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158813819;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1628,2778;ESP6500_AA_AGE=501.3+/-365.0;ESP6500_AA_GTC=294,1040,869;ESP6500_CDS_SIZES=NM_002432.1:1224;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=192;ESP6500_EA_AC=4936,3664;ESP6500_EA_AGE=623.4+/-397.5;ESP6500_EA_GTC=1404,2128,768;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002432.1:coding-synonymous;ESP6500_GL=MNDA;ESP6500_GRCh38_POSITION=1:158844029;ESP6500_GTC=1698,3168,1637;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002432.1:c.477A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002432.1:p.(P159);ESP6500_MAF=42.6047,36.9496,49.531;ESP6500_TAC=6564,6442	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2118,201,0
chr1	158845552	rs146722319	TTTTAAG	T	1177.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=2.753;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs146722319;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|MNDA|MNDA|transcript|NM_002432.1|protein_coding|4/6|c.571-30_571-25delAGTTTA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=968;p3_1000G_AF=0.193291;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=17677;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.0954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158815342;p3_1000G_GRCH37_REF=TTTTAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=INDEL;ESP6500_AA_AC=231,4035;ESP6500_AA_GTC=6,219,1908;ESP6500_CDS_SIZES=NM_002432.1:1224;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=26;ESP6500_EA_AC=798,7454;ESP6500_EA_GTC=47,704,3375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002432.1:intron;ESP6500_GL=MNDA;ESP6500_GRCh38_POSITION=1:158845552;ESP6500_GTC=53,923,5283;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002432.1:c.571-34_571-29del6;ESP6500_MAF=9.6704,5.4149,8.2202;ESP6500_TAC=1029,11489	GT:AD:DP:GQ:PL	1/1:0,27:27:81:1215,81,0
chr1	158939374	rs2325704	C	A	454.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.533;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.569;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2325704;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_152501.4|protein_coding|4/8|c.579+127C>A||||||,A|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198928.4|protein_coding|4/8|c.552+127C>A||||||,A|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198929.4|protein_coding|4/7|c.579+127C>A||||||,A|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198930.3|protein_coding|4/7|c.552+127C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3995;p3_1000G_AF=0.797724;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=21285;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.7734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158909164;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,16:36:99:483,0,609
chr1	158943735	rs856082	A	G	635.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.67;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs856082;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_152501.4|protein_coding|5/8|c.1003-55A>G||||||,G|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198928.4|protein_coding|5/8|c.976-55A>G||||||,G|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198929.4|protein_coding|5/7|c.1003-55A>G||||||,G|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198930.3|protein_coding|5/7|c.976-55A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4592;p3_1000G_AF=0.916933;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=21033;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158913525;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:158943735_A_G:664,45,0
chr1	158943742	rs4656498	C	T	635.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656498;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_152501.4|protein_coding|5/8|c.1003-48C>T||||||,T|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198928.4|protein_coding|5/8|c.976-48C>T||||||,T|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198929.4|protein_coding|5/7|c.1003-48C>T||||||,T|intron_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198930.3|protein_coding|5/7|c.976-48C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1833;p3_1000G_AF=0.366014;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=20987;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.4751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158913532;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=688,3710;ESP6500_AA_GTC=67,554,1578;ESP6500_CDS_SIZES=NM_198930.3:1359,NM_198929.4:1386,NM_198928.4:1452,NM_152501.4:1479;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=23;ESP6500_EA_AC=3993,4603;ESP6500_EA_GTC=909,2175,1214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198930.3:intron,NM_198929.4:intron,NM_198928.4:intron,NM_152501.4:intron;ESP6500_GL=PYHIN1;ESP6500_GRCh38_POSITION=1:158943742;ESP6500_GTC=976,2729,2792;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198930.3:c.976-48C>T,NM_198929.4:c.1003-48C>T,NM_198928.4:c.976-48C>T,NM_152501.4:c.1003-48C>T;ESP6500_MAF=46.4518,15.6435,36.0243;ESP6500_TAC=4681,8313	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:158943735_A_G:664,45,0
chr1	158976854	.	ATC	A	99.14	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=2.833;DEL;HOM;VARTYPE=DEL;ANN=A|3_prime_UTR_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_152501.4|protein_coding|9/9|c.*161_*162delCT|||||3090|INFO_REALIGN_3_PRIME,A|3_prime_UTR_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198928.4|protein_coding|9/9|c.*161_*162delCT|||||3090|INFO_REALIGN_3_PRIME,A|3_prime_UTR_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198929.4|protein_coding|8/8|c.*129_*130delCT|||||129|INFO_REALIGN_3_PRIME,A|3_prime_UTR_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198930.3|protein_coding|8/8|c.*129_*130delCT|||||129|INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:10:1|1:158976854_ATC_A:136,10,0
chr1	158976858	.	GGTTGAAATAC	G	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.833;DEL;HOM;VARTYPE=DEL;ANN=G|3_prime_UTR_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_152501.4|protein_coding|9/9|c.*164_*173delGTTGAAATAC|||||3093|,G|3_prime_UTR_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198928.4|protein_coding|9/9|c.*164_*173delGTTGAAATAC|||||3093|,G|3_prime_UTR_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198929.4|protein_coding|8/8|c.*132_*141delGTTGAAATAC|||||132|,G|3_prime_UTR_variant|MODIFIER|PYHIN1|PYHIN1|transcript|NM_198930.3|protein_coding|8/8|c.*132_*141delGTTGAAATAC|||||132|	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:158976854_ATC_A:135,9,0
chr1	159016687	rs866484	G	C	1507.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.78;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs866484;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|IFI16|IFI16|transcript|NM_005531.2|protein_coding|4/11|c.536G>C|p.Ser179Thr|826/2734|536/2190|179/729||,C|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_001206567.1|protein_coding|3/10|c.381+700G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3186;p3_1000G_AF=0.636182;p3_1000G_AFR_AF=0.4123;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=18436;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.7853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158986477;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2038,2368;ESP6500_AA_GTC=480,1078,645;ESP6500_CDS_SIZES=NM_005531.2:2190,NM_001206567.1:2190;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=131;ESP6500_EA_AC=6691,1909;ESP6500_EA_GTC=2606,1479,215;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005531.2:missense,NM_001206567.1:intron;ESP6500_GL=IFI16;ESP6500_GRCh38_POSITION=1:159016687;ESP6500_GS=58,.;ESP6500_GTC=3086,2557,860;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005531.2:c.536G>C,NM_001206567.1:c.381+700G>C;ESP6500_HGVS_PROTEIN_VAR=NM_005531.2:p.(S179T),.;ESP6500_MAF=22.1977,46.2551,32.8848;ESP6500_PH=benign:0.0,.;ESP6500_TAC=8729,4277	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1536,137,0
chr1	159032432	rs861318	A	G	317.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.77;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs861318;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_001206567.1|protein_coding|5/10|c.994-92A>G||||||,G|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_005531.2|protein_coding|6/10|c.1162-92A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3169;p3_1000G_AF=0.632788;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=19866;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159002222;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:346,27,0
chr1	159032511	rs2518553	T	C	1098.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2518553;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_001206567.1|protein_coding|5/10|c.994-13T>C||||||,C|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_005531.2|protein_coding|6/10|c.1162-13T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3156;p3_1000G_AF=0.630192;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=19156;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.838;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159002301;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1897,2509;ESP6500_AA_AGE=541.3+/-375.7;ESP6500_AA_GTC=414,1069,720;ESP6500_CDS_SIZES=NM_005531.2:2190,NM_001206567.1:2190;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=36;ESP6500_EA_AC=7026,1574;ESP6500_EA_AGE=739.6+/-407.1;ESP6500_EA_GTC=2880,1266,154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005531.2:intron,NM_001206567.1:intron;ESP6500_GL=IFI16;ESP6500_GRCh38_POSITION=1:159032511;ESP6500_GTC=3294,2335,874;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005531.2:c.1162-13T>C,NM_001206567.1:c.994-13T>C;ESP6500_MAF=18.3023,43.0549,31.3932;ESP6500_TAC=8923,4083	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1127,108,0
chr1	159032587	rs1057027	C	A	1876.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.77;SOR=1.107;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1057027;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|IFI16|IFI16|transcript|NM_001206567.1|protein_coding|6/11|c.1057C>A|p.Arg353Ser|1347/2734|1057/2190|353/729||,A|missense_variant|MODERATE|IFI16|IFI16|transcript|NM_005531.2|protein_coding|7/11|c.1225C>A|p.Arg409Ser|1515/2734|1225/2190|409/729||;p3_1000G_AA=A|||;p3_1000G_AC=3160;p3_1000G_AF=0.63099;p3_1000G_AFR_AF=0.3207;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=18161;p3_1000G_EAS_AF=0.5883;p3_1000G_EUR_AF=0.838;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159002377;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1895,2511;ESP6500_AA_AGE=628.5+/-395.1;ESP6500_AA_GTC=413,1069,721;ESP6500_CDS_SIZES=NM_005531.2:2190,NM_001206567.1:2190;ESP6500_CG=2.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=117;ESP6500_EA_AC=7028,1572;ESP6500_EA_AGE=293.1+/-301.2;ESP6500_EA_GTC=2881,1266,153;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005531.2:missense,NM_001206567.1:missense;ESP6500_GL=IFI16;ESP6500_GRCh38_POSITION=1:159032587;ESP6500_GS=110,110;ESP6500_GTC=3294,2335,874;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005531.2:c.1225C>A,NM_001206567.1:c.1057C>A;ESP6500_HGVS_PROTEIN_VAR=NM_005531.2:p.(R409S),NM_001206567.1:p.(R353S);ESP6500_MAF=18.2791,43.0095,31.3932;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8923,4083	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1905,183,0
chr1	159032599	rs1057028	T	A	1831.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1057028;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|IFI16|IFI16|transcript|NM_001206567.1|protein_coding|6/11|c.1069T>A|p.Tyr357Asn|1359/2734|1069/2190|357/729||,A|missense_variant|MODERATE|IFI16|IFI16|transcript|NM_005531.2|protein_coding|7/11|c.1237T>A|p.Tyr413Asn|1527/2734|1237/2190|413/729||;p3_1000G_AA=A|||;p3_1000G_AC=3159;p3_1000G_AF=0.630791;p3_1000G_AFR_AF=0.3207;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=17933;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.838;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159002389;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1896,2510;ESP6500_AA_AGE=628.4+/-395.1;ESP6500_AA_GTC=414,1068,721;ESP6500_CDS_SIZES=NM_005531.2:2190,NM_001206567.1:2190;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=123;ESP6500_EA_AC=7028,1572;ESP6500_EA_AGE=293.4+/-301.3;ESP6500_EA_GTC=2881,1266,153;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005531.2:missense,NM_001206567.1:missense;ESP6500_GL=IFI16;ESP6500_GRCh38_POSITION=1:159032599;ESP6500_GS=143,143;ESP6500_GTC=3295,2334,874;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_005531.2:c.1237T>A,NM_001206567.1:c.1069T>A;ESP6500_HGVS_PROTEIN_VAR=NM_005531.2:p.(Y413N),NM_001206567.1:p.(Y357N);ESP6500_MAF=18.2791,43.0322,31.3855;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8924,4082	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1860,180,0
chr1	159032767	rs1633256	A	G	446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1633256;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_001206567.1|protein_coding|6/10|c.1161+76A>G||||||,G|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_005531.2|protein_coding|7/10|c.1329+76A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3154;p3_1000G_AF=0.629792;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=18345;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159002557;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:475,36,0
chr1	159045177	rs1060521	A	G	110.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.77;QD=27.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs142018488;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_001206567.1|protein_coding|6/10|c.1162-120A>G||||||,G|intron_variant|MODIFIER|IFI16|IFI16|transcript|NM_005531.2|protein_coding|7/10|c.1330-4255A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3672;p3_1000G_AF=0.733227;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs142018488;p3_1000G_DP=20234;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.8797;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159014967;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:138,12,0
chr1	159193329	rs862990	C	T	612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs862990;dbSNPBuildID=86;ANN=T|downstream_gene_variant|MODIFIER|CADM3-AS1|CADM3-AS1|transcript|NR_037870.1|pseudogene||n.*2656G>A|||||2656|,T|intron_variant|MODIFIER|CADM3|CADM3|transcript|NM_021189.3|protein_coding|4/9|c.485-94C>T||||||,T|intron_variant|MODIFIER|CADM3|CADM3|transcript|NM_001127173.1|protein_coding|3/8|c.383-94C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4184;p3_1000G_AF=0.835463;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=20643;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.7416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159163119;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:641,51,0
chr1	159199851	rs862999	T	C	1404.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=1.364;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs862999;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|CADM3|CADM3|transcript|NM_021189.3|protein_coding|9/10|c.1155T>C|p.Leu385Leu|1334/3698|1155/1299|385/432||,C|synonymous_variant|LOW|CADM3|CADM3|transcript|NM_001127173.1|protein_coding|8/9|c.1053T>C|p.Leu351Leu|1195/3559|1053/1197|351/398||,C|upstream_gene_variant|MODIFIER|ACKR1|ACKR1|transcript|NM_002036.3|protein_coding||c.-5109T>C|||||4162|,C|non_coding_transcript_exon_variant|MODIFIER|CADM3-AS1|CADM3-AS1|transcript|NR_037870.1|pseudogene|3/4|n.992A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4162;p3_1000G_AF=0.83107;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=19844;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.7425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159169641;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3886,520;ESP6500_AA_AGE=239.9+/-250.9;ESP6500_AA_GTC=1707,472,24;ESP6500_CDS_SIZES=NM_021189.3:1299,NM_001127173.1:1197;ESP6500_CG=-9.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=113;ESP6500_EA_AC=6384,2216;ESP6500_EA_AGE=377.0+/-338.4;ESP6500_EA_GTC=2374,1636,290;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021189.3:coding-synonymous,NM_001127173.1:coding-synonymous;ESP6500_GL=CADM3;ESP6500_GRCh38_POSITION=1:159199851;ESP6500_GTC=4081,2108,314;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021189.3:c.1155T>C,NM_001127173.1:c.1053T>C;ESP6500_HGVS_PROTEIN_VAR=NM_021189.3:p.(L385),NM_001127173.1:p.(L351);ESP6500_MAF=25.7674,11.8021,21.0364;ESP6500_TAC=10270,2736	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1433,132,0
chr1	159302974	rs12119226	C	T	936.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12119226;dbSNPBuildID=120;ANN=T|sequence_feature|LOW|FCER1A|FCER1A|topological-domain:Extracellular|NM_002001.3|protein_coding|3/5|c.76+100C>T||||||,T|intron_variant|MODIFIER|FCER1A|FCER1A|transcript|NM_002001.3|protein_coding|3/5|c.76+100C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=955;p3_1000G_AF=0.190695;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=21318;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.0915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159272764;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:95:965,95,0
chr1	159305916	rs2269718	G	A	319.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.47;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2269718;dbSNPBuildID=100;ANN=A|sequence_feature|LOW|FCER1A|FCER1A|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_002001.3|protein_coding|4/5|c.332-72G>A||||||,A|sequence_feature|LOW|FCER1A|FCER1A|domain:Ig-like_2|NM_002001.3|protein_coding|4/5|c.332-72G>A||||||,A|intron_variant|MODIFIER|FCER1A|FCER1A|transcript|NM_002001.3|protein_coding|4/5|c.332-72G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=660;p3_1000G_AF=0.131789;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=20254;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.0586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159275706;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:348,27,0
chr1	159313704	rs58037016	T	C	1731.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs58037016;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|OR10J3|OR10J3|transcript|NM_001004467.1|protein_coding|1/1|c.956A>G|p.Glu319Gly|956/990|956/990|319/329||;p3_1000G_AA=T|||;p3_1000G_AC=625;p3_1000G_AF=0.1248;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=22619;p3_1000G_EAS_AF=0.3621;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159283494;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=71,4335;ESP6500_AA_AGE=58.1+/-94.6;ESP6500_AA_GTC=1,69,2133;ESP6500_CDS_SIZES=NM_001004467.1:990;ESP6500_CG=4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=59;ESP6500_EA_AC=485,8115;ESP6500_EA_AGE=131.0+/-188.9;ESP6500_EA_GTC=18,449,3833;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004467.1:missense;ESP6500_GL=OR10J3;ESP6500_GRCh38_POSITION=1:159313704;ESP6500_GS=98;ESP6500_GTC=19,518,5966;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004467.1:c.956A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001004467.1:p.(E319G);ESP6500_MAF=5.6395,1.6114,4.275;ESP6500_PH=benign:0.0;ESP6500_TAC=556,12450	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1760,132,0
chr1	159313956	rs11265165	T	C	2330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.5;SOR=0.747;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11265165;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|OR10J3|OR10J3|transcript|NM_001004467.1|protein_coding|1/1|c.704A>G|p.Gln235Arg|704/990|704/990|235/329||;p3_1000G_AA=C|||;p3_1000G_AC=981;p3_1000G_AF=0.195887;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=22333;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.0964;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159283746;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=670,3736;ESP6500_AA_AGE=763.6+/-413.2;ESP6500_AA_GTC=48,574,1581;ESP6500_CDS_SIZES=NM_001004467.1:990;ESP6500_CG=4.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=140;ESP6500_EA_AC=675,7925;ESP6500_EA_AGE=788.9+/-407.6;ESP6500_EA_GTC=31,613,3656;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004467.1:missense;ESP6500_GL=OR10J3;ESP6500_GRCh38_POSITION=1:159313956;ESP6500_GS=43;ESP6500_GTC=79,1187,5237;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004467.1:c.704A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001004467.1:p.(Q235R);ESP6500_MAF=7.8488,15.2065,10.3414;ESP6500_PH=benign:0.001;ESP6500_TAC=1345,11661	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2359,222,0
chr1	159432605	rs76922198	A	G	1749.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=145;ExcessHet=3.0103;FS=1.302;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.191;SOR=0.579;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76922198;dbSNPBuildID=132;ANN=G|intergenic_region|MODIFIER|OR10J3-OR10J1|OR10J3-OR10J1|intergenic_region|OR10J3-OR10J1|||n.159432605A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=36;p3_1000G_AF=0.0071885;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22574;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159402395;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:78,67:145:99:1778,0,1997
chr1	159432794	rs11419544;rs397744229	G	GT	5500.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=159;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.32;SOR=1.026;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11419544;dbSNPBuildID=130,138;ANN=GT|intergenic_region|MODIFIER|OR10J3-OR10J1|OR10J3-OR10J1|intergenic_region|OR10J3-OR10J1|||n.159432794_159432795insT||||||;p3_1000G_AA=TTT|TT|TTT|deletion;p3_1000G_AC=4533;p3_1000G_AF=0.905152;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=22915;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159402584;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,157:157:99:5538,475,0
chr1	159432905	rs4491058	A	C	5224.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=164;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=0.821;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4491058;dbSNPBuildID=111;ANN=C|intergenic_region|MODIFIER|OR10J3-OR10J1|OR10J3-OR10J1|intergenic_region|OR10J3-OR10J1|||n.159432905A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4562;p3_1000G_AF=0.910942;p3_1000G_AFR_AF=0.7088;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=22615;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159402695;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,164:164:99:5253,492,0
chr1	159439743	rs10908721	G	A	1066.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10908721;dbSNPBuildID=120;ANN=A|5_prime_UTR_variant|MODIFIER|OR10J1|OR10J1|transcript|NM_012351.2|protein_coding|1/1|c.-16G>A|||||16|;p3_1000G_AA=A|||;p3_1000G_AC=4561;p3_1000G_AF=0.910743;p3_1000G_AFR_AF=0.7088;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=21989;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9761;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159409533;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3431,975;ESP6500_AA_AGE=354.4+/-312.6;ESP6500_AA_GTC=1334,763,106;ESP6500_CDS_SIZES=NM_012351.2:963;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=74;ESP6500_EA_AC=8408,192;ESP6500_EA_AGE=84.2+/-146.7;ESP6500_EA_GTC=4108,192,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012351.2:utr-5;ESP6500_GL=OR10J1;ESP6500_GRCh38_POSITION=1:159439743;ESP6500_GTC=5442,955,106;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012351.2:c.-16G>A;ESP6500_MAF=2.2326,22.1289,8.9728;ESP6500_TAC=11839,1167	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1095,99,0
chr1	159439944	rs10908722	G	T	4933.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=163;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=0.921;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10908722;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|OR10J1|OR10J1|transcript|NM_012351.2|protein_coding|1/1|c.186G>T|p.Met62Ile|223/1089|186/963|62/320||;p3_1000G_AA=T|||;p3_1000G_AC=4949;p3_1000G_AF=0.988219;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=22994;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159409734;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4267,139;ESP6500_AA_AGE=99.4+/-138.0;ESP6500_AA_GTC=2064,139,0;ESP6500_CDS_SIZES=NM_012351.2:963;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=177;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012351.2:missense;ESP6500_GL=OR10J1;ESP6500_GRCh38_POSITION=1:159439944;ESP6500_GS=10;ESP6500_GTC=6363,140,0;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_012351.2:c.186G>T;ESP6500_HGVS_PROTEIN_VAR=NM_012351.2:p.(M62I);ESP6500_MAF=0.0116,3.1548,1.0764;ESP6500_PH=benign:0.0;ESP6500_TAC=12866,140	GT:AD:DP:GQ:PL	1/1:0,163:163:99:4962,489,0
chr1	159440067	rs12048482	A	G	1372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.05;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=0.684;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.067;SOR=0.808;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12048482;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|OR10J1|OR10J1|transcript|NM_012351.2|protein_coding|1/1|c.309A>G|p.Ile103Met|346/1089|309/963|103/320||;p3_1000G_AA=A|||;p3_1000G_AC=2402;p3_1000G_AF=0.479633;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=23221;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.6471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159409857;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2176,2230;ESP6500_AA_AGE=584.2+/-386.0;ESP6500_AA_GTC=525,1126,552;ESP6500_CDS_SIZES=NM_012351.2:963;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=89;ESP6500_EA_AC=5474,3126;ESP6500_EA_AGE=656.7+/-401.4;ESP6500_EA_GTC=1743,1988,569;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012351.2:missense;ESP6500_GL=OR10J1;ESP6500_GRCh38_POSITION=1:159440067;ESP6500_GS=10;ESP6500_GTC=2268,3114,1121;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012351.2:c.309A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012351.2:p.(I103M);ESP6500_MAF=36.3488,49.3872,41.181;ESP6500_PH=probably-damaging:0.971;ESP6500_TAC=7650,5356	GT:AD:DP:GQ:PL	0/1:77,50:127:99:1401,0,2065
chr1	159535507	rs4656837	C	T	1397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.658;ClippingRankSum=0;DP=128;ExcessHet=3.0103;FS=0.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.227;SOR=0.621;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4656837;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|OR10J5|OR10J5|transcript|NM_001004469.1|protein_coding|1/1|c.501G>A|p.Pro167Pro|501/930|501/930|167/309||;p3_1000G_AA=T|||;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=23390;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.6948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159505297;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1653,2753;ESP6500_AA_AGE=658.8+/-400.5;ESP6500_AA_GTC=321,1011,871;ESP6500_CDS_SIZES=NM_001004469.1:930;ESP6500_CG=-1.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=100;ESP6500_EA_AC=6129,2471;ESP6500_EA_AGE=407.5+/-349.2;ESP6500_EA_GTC=2195,1739,366;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004469.1:coding-synonymous;ESP6500_GL=OR10J5;ESP6500_GRCh38_POSITION=1:159535507;ESP6500_GTC=2516,2750,1237;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004469.1:c.501G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004469.1:p.(P167);ESP6500_MAF=28.7326,37.517,40.1661;ESP6500_TAC=7782,5224	GT:AD:DP:GQ:PL	0/1:70,57:127:99:1426,0,1995
chr1	159588468	rs2808661	A	G	1502.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2808661;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|APCS|APCS|transcript|NM_001639.3|protein_coding|2/2|c.432A>G|p.Val144Val|528/931|432/672|144/223||;p3_1000G_AA=G|||;p3_1000G_AC=4509;p3_1000G_AF=0.900359;p3_1000G_AFR_AF=0.9834;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=18828;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159558258;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4246,160;ESP6500_AA_AGE=108.6+/-147.0;ESP6500_AA_GTC=2047,152,4;ESP6500_CDS_SIZES=NM_001639.3:672;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=7026,1574;ESP6500_EA_AGE=294.8+/-302.1;ESP6500_EA_GTC=2869,1288,143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001639.3:coding-synonymous;ESP6500_GL=APCS;ESP6500_GRCh38_POSITION=1:159588468;ESP6500_GTC=4916,1440,147;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001639.3:c.432A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001639.3:p.(V144);ESP6500_MAF=18.3023,3.6314,13.3323;ESP6500_TAC=11272,1734	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1531,138,0
chr1	159714331	rs772244717	C	CT	15.89	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.18;ReadPosRankSum=0.524;SOR=1.179;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=CT|intron_variant|MODIFIER|CRP|CRP|transcript|NM_000567.2|protein_coding|1/1|c.61+93dupA||||||,CT|intron_variant|MODIFIER|CRP|CRP|transcript|NM_001329057.1|protein_coding|1/2|c.61+93dupA||||||,CT|intron_variant|MODIFIER|CRP|CRP|transcript|NM_001329058.1|protein_coding|1/3|c.61+93dupA||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:20:53,0,20
chr1	159813622	rs76282094	A	G	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.9;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.65;ReadPosRankSum=-1.055;SOR=1.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76282094;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|FCRL6|FCRL6|transcript|NM_001004310.2|protein_coding|7/9|c.1075+68A>G||||||,G|intron_variant|MODIFIER|FCRL6|FCRL6|transcript|NM_001284217.1|protein_coding|8/10|c.1096+68A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=654;p3_1000G_AF=0.130591;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=19199;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159783412;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=113,1271;ESP6500_AA_GTC=7,99,586;ESP6500_CDS_SIZES=NM_001004310.2:1305;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=35;ESP6500_EA_AC=12,3170;ESP6500_EA_GTC=0,12,1579;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004310.2:intron;ESP6500_GL=FCRL6;ESP6500_GRCh38_POSITION=1:159813622;ESP6500_GTC=7,111,2165;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004310.2:c.1075+68A>G;ESP6500_MAF=0.3771,8.1647,2.7376;ESP6500_TAC=125,4441	GT:AD:DP:GQ:PL	0/1:22,7:29:99:163,0,638
chr1	159815494	rs4411129	C	G	1109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.962;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=18.579;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.077;SOR=0.079;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4411129;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|FCRL6|FCRL6|transcript|NM_001004310.2|protein_coding|9/9|c.1179+35C>G||||||,G|intron_variant|MODIFIER|FCRL6|FCRL6|transcript|NM_001284217.1|protein_coding|10/10|c.1200+35C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3985;p3_1000G_AF=0.795727;p3_1000G_AFR_AF=0.9614;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=21637;p3_1000G_EAS_AF=0.7867;p3_1000G_EUR_AF=0.6948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159785284;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4048,358;ESP6500_AA_AGE=183.6+/-211.2;ESP6500_AA_GTC=1862,324,17;ESP6500_CDS_SIZES=NM_001004310.2:1305;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=139;ESP6500_EA_AC=6081,2519;ESP6500_EA_AGE=412.4+/-350.8;ESP6500_EA_GTC=2133,1815,352;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004310.2:intron;ESP6500_GL=FCRL6;ESP6500_GRCh38_POSITION=1:159815494;ESP6500_GTC=3995,2139,369;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004310.2:c.1179+35C>G;ESP6500_MAF=29.2907,8.1253,22.1206;ESP6500_TAC=10129,2877	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1138,0,1072
chr1	159829809	rs11422063;rs397789865	C	CA	565.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11422063;dbSNPBuildID=132,138;ANN=CA|downstream_gene_variant|MODIFIER|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding||c.*8108dupT|||||4664|,CA|intron_variant|MODIFIER|SLAMF8|SLAMF8|transcript|NM_020125.2|protein_coding|1/4|c.41-54dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAAA|AAA|AAAA|deletion;p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=19413;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.8191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159799599;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:603,54,0
chr1	159832837	rs2494480	A	C	1665.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2494480;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding||c.*5081T>G|||||1637|,C|intron_variant|MODIFIER|SLAMF8|SLAMF8|transcript|NM_020125.2|protein_coding|2/4|c.368-39A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1616;p3_1000G_AF=0.322684;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=18701;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159802627;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1568,2660;ESP6500_AA_GTC=297,974,843;ESP6500_CDS_SIZES=NM_020125.2:858;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=871,7657;ESP6500_EA_GTC=37,797,3430;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020125.2:intron;ESP6500_GL=SLAMF8;ESP6500_GRCh38_POSITION=1:159832837;ESP6500_GTC=334,1771,4273;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_020125.2:c.368-39A>C;ESP6500_MAF=10.2134,37.0861,19.1204;ESP6500_TAC=2439,10317	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1694,156,0
chr1	159855177	rs2501340	G	C	1655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=0.808;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501340;dbSNPBuildID=100;ANN=C|missense_variant&splice_region_variant|MODERATE|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding|1/6|c.61C>G|p.Gln21Glu|171/2501|61/708|21/235||,C|intron_variant|MODIFIER|VSIG8|VSIG8|transcript|NM_001013661.1|protein_coding|6/6|c.972-151C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4663;p3_1000G_AF=0.93111;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=14326;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159824967;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1341,43;ESP6500_AA_GTC=650,41,1;ESP6500_CDS_SIZES=NM_001134233.1:708,NM_001013661.1:1245;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=63;ESP6500_EA_AC=2765,417;ESP6500_EA_GTC=1203,359,29;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001134233.1:missense-near-splice,NM_001013661.1:intron;ESP6500_GL=C1orf204,VSIG8;ESP6500_GRCh38_POSITION=1:159855177;ESP6500_GS=29,.;ESP6500_GTC=1853,400,30;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001134233.1:c.61C>G,NM_001013661.1:c.972-151C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001134233.1:p.(Q21E),.;ESP6500_MAF=13.105,3.1069,10.0745;ESP6500_PH=benign:0.0,.;ESP6500_TAC=4106,460	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1684,159,0
chr1	159855271	rs2501339	G	C	388.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.025;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.453;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2501339;dbSNPBuildID=100;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding|1/6|c.-34C>G||||||,C|5_prime_UTR_variant|MODIFIER|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding|1/6|c.-34C>G|||||34|,C|intron_variant|MODIFIER|VSIG8|VSIG8|transcript|NM_001013661.1|protein_coding|6/6|c.972-245C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3167;p3_1000G_AF=0.632388;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=14925;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159825061;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1217,167;ESP6500_AA_GTC=533,151,8;ESP6500_CDS_SIZES=NM_001134233.1:708,NM_001013661.1:1245;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=28;ESP6500_EA_AC=1533,1649;ESP6500_EA_GTC=372,789,430;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001134233.1:utr-5,NM_001013661.1:intron;ESP6500_GL=C1orf204,VSIG8;ESP6500_GRCh38_POSITION=1:159855271;ESP6500_GTC=905,940,438;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001134233.1:c.-34C>G,NM_001013661.1:c.972-245C>G;ESP6500_MAF=48.1772,12.0665,39.7722;ESP6500_TAC=2750,1816	GT:AD:DP:GQ:PL	0/1:13,15:28:99:417,0,398
chr1	159856126	rs11587021	C	T	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.81;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.916;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.55;SOR=0.523;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11587021;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding||c.-889G>A|||||779|,T|intron_variant|MODIFIER|VSIG8|VSIG8|transcript|NM_001013661.1|protein_coding|5/6|c.773-45G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1483;p3_1000G_AF=0.296126;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=13350;p3_1000G_EAS_AF=0.3333;p3_1000G_EUR_AF=0.4155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159825916;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=388,3990;ESP6500_AA_GTC=25,338,1826;ESP6500_CDS_SIZES=NM_001013661.1:1245;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=13;ESP6500_EA_AC=3408,5178;ESP6500_EA_GTC=690,2028,1575;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013661.1:intron;ESP6500_GL=VSIG8;ESP6500_GRCh38_POSITION=1:159856126;ESP6500_GTC=715,2366,3401;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001013661.1:c.773-45G>A;ESP6500_MAF=39.6925,8.8625,29.2811;ESP6500_TAC=3796,9168	GT:AD:DP:GQ:PL	0/1:9,11:20:99:293,0,330
chr1	159857666	rs2494503	A	G	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.443;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.783;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2494503;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding||c.-2429T>C|||||2319|,G|intron_variant|MODIFIER|VSIG8|VSIG8|transcript|NM_001013661.1|protein_coding|4/6|c.652+79T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3312;p3_1000G_AF=0.661342;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=16591;p3_1000G_EAS_AF=0.7192;p3_1000G_EUR_AF=0.673;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159827456;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:176,0,246
chr1	159858338	rs2494504	A	G	522.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.39;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2494504;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding||c.-3101T>C|||||2991|,G|intron_variant|MODIFIER|VSIG8|VSIG8|transcript|NM_001013661.1|protein_coding|2/6|c.229-47T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4661;p3_1000G_AF=0.930711;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=22170;p3_1000G_EAS_AF=0.9504;p3_1000G_EUR_AF=0.8608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159828128;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4251,155;ESP6500_AA_AGE=104.3+/-142.8;ESP6500_AA_GTC=2054,143,6;ESP6500_CDS_SIZES=NM_001013661.1:1245;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=7454,1146;ESP6500_EA_AGE=233.6+/-266.8;ESP6500_EA_GTC=3239,976,85;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013661.1:intron;ESP6500_GL=VSIG8;ESP6500_GRCh38_POSITION=1:159858338;ESP6500_GTC=5293,1119,91;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001013661.1:c.229-47T>C;ESP6500_MAF=13.3256,3.5179,10.0031;ESP6500_TAC=11705,1301	GT:AD:DP:GQ:PL	1/1:0,13:13:39:551,39,0
chr1	159858956	rs2501337	G	A	687.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501337;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|C1orf204|C1orf204|transcript|NM_001134233.1|protein_coding||c.-3719C>T|||||3609|,A|intron_variant|MODIFIER|VSIG8|VSIG8|transcript|NM_001013661.1|protein_coding|1/6|c.50-44C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3200;p3_1000G_AF=0.638978;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=20595;p3_1000G_EAS_AF=0.745;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159828746;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2094,2312;ESP6500_AA_AGE=566.5+/-381.9;ESP6500_AA_GTC=510,1074,619;ESP6500_CDS_SIZES=NM_001013661.1:1245;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=5832,2768;ESP6500_EA_AGE=669.7+/-402.7;ESP6500_EA_GTC=1996,1840,464;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013661.1:intron;ESP6500_GL=VSIG8;ESP6500_GRCh38_POSITION=1:159858956;ESP6500_GTC=2506,2914,1083;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001013661.1:c.50-44C>T;ESP6500_MAF=32.186,47.5261,39.0589;ESP6500_TAC=7926,5080	GT:AD:DP:GQ:PL	1/1:0,21:21:63:716,63,0
chr1	159862635	rs2494507	G	A	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.314;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=1.67;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2494507;dbSNPBuildID=100;ANN=A|5_prime_UTR_variant|MODIFIER|VSIG8|VSIG8|transcript|NM_001013661.1|protein_coding|1/7|c.-114C>T|||||114|;p3_1000G_AA=g|||;p3_1000G_AC=2479;p3_1000G_AF=0.495008;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=15620;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159832425;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,8:23:99:218,0,462
chr1	159872901	rs4460634	C	G	1289.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=3.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4460634;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CFAP45|CFAP45|transcript|NM_012337.2|protein_coding|11/11|c.1577+43G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3050;p3_1000G_AF=0.609026;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=18962;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159842691;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1571,2835;ESP6500_AA_AGE=643.8+/-397.9;ESP6500_AA_GTC=273,1025,905;ESP6500_CDS_SIZES=NM_012337.2:1656;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=39;ESP6500_EA_AC=5707,2891;ESP6500_EA_AGE=430.4+/-356.5;ESP6500_EA_GTC=1923,1861,515;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012337.2:intron;ESP6500_GL=CCDC19;ESP6500_GRCh38_POSITION=1:159872901;ESP6500_GTC=2196,2886,1420;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_012337.2:c.1577+43G>C;ESP6500_MAF=33.6241,35.6559,44.0326;ESP6500_TAC=7278,5726	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1318,101,0
chr1	159884602	rs2501325	C	A	680.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501325;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CFAP45|CFAP45|transcript|NM_012337.2|protein_coding|6/11|c.768-37G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4013;p3_1000G_AF=0.801318;p3_1000G_AFR_AF=0.8343;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=19015;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.7604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159854392;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3558,848;ESP6500_AA_AGE=333.3+/-302.9;ESP6500_AA_GTC=1441,676,86;ESP6500_CDS_SIZES=NM_012337.2:1656;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=94;ESP6500_EA_AC=6587,2013;ESP6500_EA_AGE=351.2+/-328.2;ESP6500_EA_GTC=2537,1513,250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012337.2:intron;ESP6500_GL=CCDC19;ESP6500_GRCh38_POSITION=1:159884602;ESP6500_GTC=3978,2189,336;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_012337.2:c.768-37G>T;ESP6500_MAF=23.407,19.2465,21.9975;ESP6500_TAC=10145,2861	GT:AD:DP:GQ:PL	1/1:0,21:21:63:709,63,0
chr1	159890469	rs2501320	G	A	509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.636;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=7.053;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.732;SOR=2.047;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2501320;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CFAP45|CFAP45|transcript|NM_012337.2|protein_coding|3/11|c.272+11C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=947;p3_1000G_AF=0.189097;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=18695;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.3559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159860259;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=484,3922;ESP6500_AA_AGE=227.5+/-242.7;ESP6500_AA_GTC=40,404,1759;ESP6500_CDS_SIZES=NM_012337.2:1656;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=150;ESP6500_EA_AC=3012,5588;ESP6500_EA_AGE=464.2+/-366.2;ESP6500_EA_GTC=542,1928,1830;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012337.2:intron;ESP6500_GL=CCDC19;ESP6500_GRCh38_POSITION=1:159890469;ESP6500_GTC=582,2332,3589;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012337.2:c.272+11C>T;ESP6500_MAF=35.0233,10.985,26.8799;ESP6500_TAC=3496,9510	GT:AD:DP:GQ:PL	0/1:21,21:42:99:538,0,542
chr1	159919896	rs2252815	G	A	1136.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=1.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2252815;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277224.1|protein_coding|2/4|c.244-61C>T||||||,A|intron_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277223.1|protein_coding|2/4|c.181-61C>T||||||,A|intron_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_003564.2|protein_coding|2/4|c.181-61C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2557;p3_1000G_AF=0.510583;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=21846;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.5109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159889686;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1165,105,0
chr1	159927336	rs13052	C	T	861.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.93;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13052;dbSNPBuildID=52;ANN=T|3_prime_UTR_variant|MODIFIER|IGSF9|IGSF9|transcript|NM_001135050.1|protein_coding|21/21|c.*9G>A|||||9|,T|3_prime_UTR_variant|MODIFIER|IGSF9|IGSF9|transcript|NM_020789.3|protein_coding|21/21|c.*9G>A|||||9|,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277224.1|protein_coding||c.-3866G>A|||||3619|,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277223.1|protein_coding||c.-6827G>A|||||2785|,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_003564.2|protein_coding||c.-6827G>A|||||1794|;p3_1000G_AA=T|||;p3_1000G_AC=3342;p3_1000G_AF=0.667332;p3_1000G_AFR_AF=0.7663;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=18688;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.5547;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159897126;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3196,1190;ESP6500_AA_GTC=1182,832,179;ESP6500_CDS_SIZES=NM_020789.3:3492,NM_001135050.1:3540;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=57;ESP6500_EA_AC=4555,4005;ESP6500_EA_GTC=1247,2061,972;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020789.3:utr-3,NM_001135050.1:utr-3;ESP6500_GL=IGSF9;ESP6500_GRCh38_POSITION=1:159927336;ESP6500_GTC=2429,2893,1151;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020789.3:c.*9G>A,NM_001135050.1:c.*9G>A;ESP6500_MAF=46.7874,27.1318,40.1282;ESP6500_TAC=7751,5195	GT:AD:DP:GQ:PL	1/1:0,32:32:96:890,96,0
chr1	159927769	rs1319080	G	T	1660.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.68;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1319080;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|IGSF9|IGSF9|transcript|NM_001135050.1|protein_coding|20/21|c.3349C>A|p.Pro1117Thr|3547/4044|3349/3540|1117/1179||,T|missense_variant|MODERATE|IGSF9|IGSF9|transcript|NM_020789.3|protein_coding|20/21|c.3301C>A|p.Pro1101Thr|3499/3996|3301/3492|1101/1163||,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277224.1|protein_coding||c.-4299C>A|||||4052|,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277223.1|protein_coding||c.-7260C>A|||||3218|,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_003564.2|protein_coding||c.-7260C>A|||||2227|;p3_1000G_AA=G|||;p3_1000G_AC=487;p3_1000G_AF=0.0972444;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=16845;p3_1000G_EAS_AF=0.2063;p3_1000G_EUR_AF=0.0726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159897559;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=65,4341;ESP6500_AA_AGE=59.9+/-96.7;ESP6500_AA_GTC=0,65,2138;ESP6500_CDS_SIZES=NM_020789.3:3492,NM_001135050.1:3540;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=62;ESP6500_EA_AC=489,8111;ESP6500_EA_AGE=140.1+/-196.7;ESP6500_EA_GTC=19,451,3830;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020789.3:missense,NM_001135050.1:missense;ESP6500_GL=IGSF9;ESP6500_GRCh38_POSITION=1:159927769;ESP6500_GS=38,38;ESP6500_GTC=19,516,5968;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_020789.3:c.3301C>A,NM_001135050.1:c.3349C>A;ESP6500_HGVS_PROTEIN_VAR=NM_020789.3:p.(P1101T),NM_001135050.1:p.(P1117T);ESP6500_MAF=5.686,1.4753,4.2596;ESP6500_PH=probably-damaging:0.97,probably-damaging:0.97;ESP6500_TAC=554,12452	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1689,180,0
chr1	159927891	rs142211405;rs540362204;rs552268190;rs766279180	TAA	T	1264.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.89;SOR=1.863;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs142211405;dbSNPBuildID=134,144,142,142;ANN=T|splice_region_variant&intron_variant|LOW|IGSF9|IGSF9|transcript|NM_001135050.1|protein_coding|19/20|c.3231-6_3231-5delTT||||||,T|splice_region_variant&intron_variant|LOW|IGSF9|IGSF9|transcript|NM_020789.3|protein_coding|19/20|c.3183-6_3183-5delTT||||||,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277224.1|protein_coding||c.-4423_-4422delTT|||||4175|,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277223.1|protein_coding||c.-7384_-7383delTT|||||3341|,T|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_003564.2|protein_coding||c.-7384_-7383delTT|||||2350|	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1286,114,0
chr1	159928310	rs3747615	A	G	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=38.06;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3747615;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|IGSF9|IGSF9|transcript|NM_001135050.1|protein_coding|19/21|c.3078T>C|p.Ser1026Ser|3276/4044|3078/3540|1026/1179||,G|synonymous_variant|LOW|IGSF9|IGSF9|transcript|NM_020789.3|protein_coding|19/21|c.3030T>C|p.Ser1010Ser|3228/3996|3030/3492|1010/1163||,G|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277224.1|protein_coding||c.-4840T>C|||||4593|,G|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277223.1|protein_coding||c.-7801T>C|||||3759|,G|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_003564.2|protein_coding||c.-7801T>C|||||2768|;p3_1000G_AA=G|||;p3_1000G_AC=2512;p3_1000G_AF=0.501597;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=15038;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.4453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159898100;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1569,2779;ESP6500_AA_GTC=316,937,921;ESP6500_CDS_SIZES=NM_020789.3:3492,NM_001135050.1:3540;ESP6500_CG=-5.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=12;ESP6500_EA_AC=3494,4990;ESP6500_EA_GTC=753,1988,1501;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020789.3:coding-synonymous,NM_001135050.1:coding-synonymous;ESP6500_GL=IGSF9;ESP6500_GRCh38_POSITION=1:159928310;ESP6500_GTC=1069,2925,2422;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020789.3:c.3030T>C,NM_001135050.1:c.3078T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020789.3:p.(S1010),NM_001135050.1:p.(S1026);ESP6500_MAF=41.1834,36.0856,39.456;ESP6500_TAC=5063,7769	GT:AD:DP:GQ:PL	1/1:0,23:23:69:873,69,0
chr1	159929123	rs7543462	A	G	1535.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=2.242;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7543462;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_001277223.1|protein_coding||c.-8614T>C|||||4572|,G|upstream_gene_variant|MODIFIER|TAGLN2|TAGLN2|transcript|NM_003564.2|protein_coding||c.-8614T>C|||||3581|,G|intron_variant|MODIFIER|IGSF9|IGSF9|transcript|NM_001135050.1|protein_coding|18/20|c.2370-105T>C||||||,G|intron_variant|MODIFIER|IGSF9|IGSF9|transcript|NM_020789.3|protein_coding|18/20|c.2322-105T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=17572;p3_1000G_EAS_AF=0.7153;p3_1000G_EUR_AF=0.5547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159898913;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1564,111,0
chr1	159932736	rs3827531	T	C	228.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3827531;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|IGSF9|IGSF9|transcript|NM_001135050.1|protein_coding|9/20|c.1105-84A>G||||||,C|intron_variant|MODIFIER|IGSF9|IGSF9|transcript|NM_020789.3|protein_coding|9/20|c.1057-84A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3351;p3_1000G_AF=0.669129;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=15822;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.5547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159902526;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:257,21,0
chr1	159952579	rs2840583	C	T	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2840583;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SLAMF9|SLAMF9|transcript|NM_033438.3|protein_coding|2/3|c.392-45G>A||||||,T|intron_variant|MODIFIER|SLAMF9|SLAMF9|transcript|NM_001146172.1|protein_coding|2/2|c.392-713G>A||||||,T|intron_variant|MODIFIER|SLAMF9|SLAMF9|transcript|NM_001146173.1|protein_coding|2/2|c.256-713G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4471;p3_1000G_AF=0.892772;p3_1000G_AFR_AF=0.7595;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=20028;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159922369;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3345,1061;ESP6500_AA_AGE=369.8+/-319.3;ESP6500_AA_GTC=1274,797,132;ESP6500_CDS_SIZES=NM_033438.3:870,NM_001146173.1:336,NM_001146172.1:597;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=7835,765;ESP6500_EA_AGE=176.8+/-226.5;ESP6500_EA_GTC=3577,681,42;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033438.3:intron,NM_001146173.1:intron,NM_001146172.1:intron;ESP6500_GL=SLAMF9;ESP6500_GRCh38_POSITION=1:159952579;ESP6500_GTC=4851,1478,174;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033438.3:c.392-45G>A,NM_001146173.1:c.256-713G>A,NM_001146172.1:c.392-713G>A;ESP6500_MAF=8.8953,24.0808,14.0397;ESP6500_TAC=11180,1826	GT:AD:DP:GQ:PL	1/1:0,24:24:72:765,72,0
chr1	159953321	rs2789417	T	G	1159.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.53;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2789417;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|SLAMF9|SLAMF9|transcript|NM_033438.3|protein_coding|2/4|c.379A>C|p.Ile127Leu|496/1156|379/870|127/289||,G|missense_variant|MODERATE|SLAMF9|SLAMF9|transcript|NM_001146172.1|protein_coding|2/3|c.379A>C|p.Ile127Leu|496/883|379/597|127/198||,G|intron_variant|MODIFIER|SLAMF9|SLAMF9|transcript|NM_001146173.1|protein_coding|2/2|c.255+124A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4458;p3_1000G_AF=0.890176;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=20908;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159923111;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3333,1073;ESP6500_AA_AGE=389.8+/-327.4;ESP6500_AA_GTC=1267,799,137;ESP6500_CDS_SIZES=NM_033438.3:870,NM_001146173.1:336,NM_001146172.1:597;ESP6500_CG=5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=139;ESP6500_EA_AC=7834,766;ESP6500_EA_AGE=182.6+/-231.0;ESP6500_EA_GTC=3576,682,42;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033438.3:missense,NM_001146173.1:intron,NM_001146172.1:missense;ESP6500_GL=SLAMF9;ESP6500_GRCh38_POSITION=1:159953321;ESP6500_GS=5,.,5;ESP6500_GTC=4843,1481,179;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_033438.3:c.379A>C,NM_001146173.1:c.255+124A>C,NM_001146172.1:c.379A>C;ESP6500_HGVS_PROTEIN_VAR=NM_033438.3:p.(I127L),.,NM_001146172.1:p.(I127L);ESP6500_MAF=8.907,24.3532,14.1396;ESP6500_PH=benign:0.0,.,benign:0.0;ESP6500_TAC=11167,1839	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1188,99,0
chr1	160120884	rs2854246	T	C	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2854246;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ATP1A2|ATP1A2|transcript|NM_000702.3|protein_coding|1/22|c.13-22T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16812;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160090674;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4343,3;ESP6500_AA_GTC=2170,3,0;ESP6500_CDS_SIZES=NM_000702.3:3063;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=30;ESP6500_EA_AC=8492,0;ESP6500_EA_GTC=4246,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000702.3:intron;ESP6500_GL=ATP1A2;ESP6500_GRCh38_POSITION=1:160120884;ESP6500_GTC=6416,3,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000702.3:c.13-22T>C;ESP6500_MAF=0.0,0.069,0.0234;ESP6500_TAC=12835,3	GT:AD:DP:GQ:PL	1/1:0,13:13:39:495,39,0
chr1	160120891	rs1375211271;rs373796693;rs67915591;rs147493087;166705	CCCTT	C	637.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=3.126;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67915591,rs373796693;dbSNPBuildID=151,136;ANN=C|splice_region_variant&intron_variant|LOW|ATP1A2|ATP1A2|transcript|NM_000702.3|protein_coding|1/22|c.13-11_13-8delTCCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3452;p3_1000G_AF=0.689297;p3_1000G_AFR_AF=0.3707;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=17239;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.8439;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160090681;p3_1000G_GRCH37_REF=CCCTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=INDEL;ESP6500_AA_AC=1843,2345;ESP6500_AA_GTC=447,949,698;ESP6500_CDS_SIZES=NM_000702.3:3063;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=36;ESP6500_EA_AC=6581,1509;ESP6500_EA_GTC=2789,1003,253;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000702.3:intron;ESP6500_GL=ATP1A2;ESP6500_GRCh38_POSITION=1:160120891;ESP6500_GTC=3236,1952,951;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000702.3:c.13-14_13-11del4;ESP6500_MAF=18.6527,44.0067,31.3895;ESP6500_TAC=8424,3854;CLINVAR_ALLELEID=177497;CLINVAR_CLNDISDB=MedGen:C0338484,Orphanet:ORPHA569,SNOMED_CT:95656000|MedGen:C0338488,Orphanet:ORPHA2131,SNOMED_CT:230466004|MedGen:CN169374;CLINVAR_CLNDN=Familial_hemiplegic_migraine|Alternating_hemiplegia_of_childhood|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.160120895_160120898delTCCT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:495770;CLINVAR_GENEINFO=ATP1A2:477;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=373796693	GT:AD:DP:GQ:PL	1/1:0,15:15:45:675,45,0
chr1	160123432	rs2820581;197163	C	T	1030.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=1.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2820581;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ATP1A2|ATP1A2|transcript|NM_000702.3|protein_coding|4/22|c.381+16C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4720;p3_1000G_AF=0.942492;p3_1000G_AFR_AF=0.7995;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=18716;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160093222;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3756,650;ESP6500_AA_AGE=276.9+/-273.4;ESP6500_AA_GTC=1604,548,51;ESP6500_CDS_SIZES=NM_000702.3:3063;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=8592,8;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=4292,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000702.3:intron;ESP6500_GL=ATP1A2;ESP6500_GRCh38_POSITION=1:160123432;ESP6500_GTC=5896,556,51;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000702.3:c.381+16C>T;ESP6500_MAF=0.093,14.7526,5.0592;ESP6500_TAC=12348,658;CLINVAR_ALLELEID=194324;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.160123432C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ATP1A2:477;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2820581	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1059,105,0
chr1	160124121	rs2820582	T	C	778.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2820582;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ATP1A2|ATP1A2|transcript|NM_000702.3|protein_coding|5/22|c.495+65T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=20615;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160093911;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:807,72,0
chr1	160125337	rs7548116	T	A	874.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.34;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7548116;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ATP1A2|ATP1A2|transcript|NM_000702.3|protein_coding|7/22|c.748+84T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2893;p3_1000G_AF=0.577676;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=19160;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160095127;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:903,96,0
chr1	160127876	rs6695366	G	A	830.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=3.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6695366;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ATP1A2|ATP1A2|transcript|NM_000702.3|protein_coding|8/22|c.1017+56G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4083;p3_1000G_AF=0.815296;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=21476;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160097666;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8487;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:859,75,0
chr1	160129137	rs5778151	A	AG	297.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=0.892;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5778151;dbSNPBuildID=134;ANN=AG|intron_variant|MODIFIER|ATP1A2|ATP1A2|transcript|NM_000702.3|protein_coding|10/22|c.1326+49dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=3842;p3_1000G_AF=0.767173;p3_1000G_AFR_AF=0.7239;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=18451;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160098927;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=INDEL;ESP6500_AA_AC=3212,1054;ESP6500_AA_GTC=1189,834,110;ESP6500_CDS_SIZES=NM_000702.3:3063;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=43;ESP6500_EA_AC=7076,1178;ESP6500_EA_GTC=3030,1016,81;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000702.3:intron;ESP6500_GL=ATP1A2;ESP6500_GRCh38_POSITION=1:160129137;ESP6500_GTC=4219,1850,191;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000702.3:c.1326+48_1326+49insG;ESP6500_MAF=14.2719,24.707,17.8275;ESP6500_TAC=10288,2232	GT:AD:DP:GQ:PL	1/1:0,9:9:27:335,27,0
chr1	160151956	rs746362	C	T	732.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs746362;dbSNPBuildID=86;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|1/22|c.-85C>T||||||,T|5_prime_UTR_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|1/22|c.-85C>T|||||85|;p3_1000G_AA=C|||;p3_1000G_AC=1354;p3_1000G_AF=0.270367;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=17688;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160121746;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:761,63,0
chr1	160153036	rs11265335	G	A	381.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.79;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11265335;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|1/21|c.148-129G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1362;p3_1000G_AF=0.271965;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=18912;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160122826;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:410,30,0
chr1	160158881	rs4656888	G	A	525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656888;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|4/21|c.526-121G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1706;p3_1000G_AF=0.340655;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=22088;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160128671;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:554,42,0
chr1	160159204	rs10908764	C	T	360.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.06;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10908764;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|5/21|c.660+68C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4351;p3_1000G_AF=0.86881;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=19513;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.8539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160128994;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:389,36,0
chr1	160164415	rs11265338	C	T	1501.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.29;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11265338;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|7/22|c.1038C>T|p.Ala346Ala|1517/3847|1038/3090|346/1029||;p3_1000G_AA=C|||;p3_1000G_AC=2648;p3_1000G_AF=0.528754;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=19965;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.6421;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160134205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1798,2608;ESP6500_AA_AGE=529.2+/-372.6;ESP6500_AA_GTC=369,1060,774;ESP6500_CDS_SIZES=NM_144699.3:3090;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=181;ESP6500_EA_AC=5362,3238;ESP6500_EA_AGE=650.2+/-400.7;ESP6500_EA_GTC=1656,2050,594;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144699.3:coding-synonymous;ESP6500_GL=ATP1A4;ESP6500_GRCh38_POSITION=1:160164415;ESP6500_GTC=2025,3110,1368;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144699.3:c.1038C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144699.3:p.(A346);ESP6500_MAF=37.6512,40.808,44.9485;ESP6500_TAC=7160,5846	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1530,144,0
chr1	160166418	rs10797062	G	A	1378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=3.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10797062;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|7/21|c.1048-110G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3309;p3_1000G_AF=0.660743;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=21524;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160136208;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1407,123,0
chr1	160166560	rs7529215	G	A	3589.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.07;QD=29.67;SOR=0.928;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7529215;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|8/22|c.1080G>A|p.Ala360Ala|1559/3847|1080/3090|360/1029||;p3_1000G_AA=g|||;p3_1000G_AC=2345;p3_1000G_AF=0.468251;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=19774;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.5457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160136350;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1475,2931;ESP6500_AA_AGE=473.1+/-356.6;ESP6500_AA_GTC=267,941,995;ESP6500_CDS_SIZES=NM_144699.3:3090;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=82;ESP6500_EA_AC=4867,3733;ESP6500_EA_AGE=618.0+/-396.7;ESP6500_EA_GTC=1413,2041,846;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144699.3:coding-synonymous;ESP6500_GL=ATP1A4;ESP6500_GRCh38_POSITION=1:160166560;ESP6500_GTC=1680,2982,1841;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144699.3:c.1080G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144699.3:p.(A360);ESP6500_MAF=43.407,33.4771,48.7621;ESP6500_TAC=6342,6664	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3618,363,0
chr1	160171208	rs1209804	G	A	207.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.64;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1209804;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|10/21|c.1492-43G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2820;p3_1000G_AF=0.563099;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=17975;p3_1000G_EAS_AF=0.9167;p3_1000G_EUR_AF=0.5149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160140998;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1346,3060;ESP6500_AA_AGE=441.6+/-346.4;ESP6500_AA_GTC=202,942,1059;ESP6500_CDS_SIZES=NM_144699.3:3090;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=91;ESP6500_EA_AC=4604,3996;ESP6500_EA_AGE=598.3+/-393.9;ESP6500_EA_GTC=1238,2128,934;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144699.3:intron;ESP6500_GL=ATP1A4;ESP6500_GRCh38_POSITION=1:160171208;ESP6500_GTC=1440,3070,1993;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144699.3:c.1492-43G>A;ESP6500_MAF=46.4651,30.5493,45.7481;ESP6500_TAC=5950,7056	GT:AD:DP:GQ:PL	1/1:0,6:6:18:236,18,0
chr1	160171406	rs625549	C	T	704.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs625549;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|11/22|c.1647C>T|p.Tyr549Tyr|2126/3847|1647/3090|549/1029||;p3_1000G_AA=T|||;p3_1000G_AC=4973;p3_1000G_AF=0.993011;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20127;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160141196;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4301,105;ESP6500_AA_AGE=82.4+/-120.9;ESP6500_AA_GTC=2099,103,1;ESP6500_CDS_SIZES=NM_144699.3:3090;ESP6500_CG=2.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=78;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144699.3:coding-synonymous;ESP6500_GL=ATP1A4;ESP6500_GRCh38_POSITION=1:160171406;ESP6500_GTC=6399,103,1;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144699.3:c.1647C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144699.3:p.(Y549);ESP6500_MAF=0.0,2.3831,0.8073;ESP6500_TAC=12901,105	GT:AD:DP:GQ:PL	1/1:0,24:24:72:733,72,0
chr1	160176383	rs881291	T	C	1056.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.09;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs881291;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_001001734.1|protein_coding||c.-1138T>C|||||1028|,C|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|16/21|c.2467-96T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1484;p3_1000G_AF=0.296326;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=22568;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160146173;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1085,93,0
chr1	160177712	rs731852	T	G	446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs731852;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|18/21|c.2736+48T>G||||||,G|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_001001734.1|protein_coding|1/4|c.144+48T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3939;p3_1000G_AF=0.786542;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.7867;p3_1000G_AN=5008;p3_1000G_DP=19360;p3_1000G_EAS_AF=0.881;p3_1000G_EUR_AF=0.673;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160147502;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3585,821;ESP6500_AA_AGE=744.2+/-411.5;ESP6500_AA_GTC=1472,641,90;ESP6500_CDS_SIZES=NM_144699.3:3090,NM_001001734.1:498;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=53;ESP6500_EA_AC=5632,2968;ESP6500_EA_AGE=665.0+/-402.2;ESP6500_EA_GTC=1850,1932,518;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144699.3:intron,NM_001001734.1:intron;ESP6500_GL=ATP1A4;ESP6500_GRCh38_POSITION=1:160177712;ESP6500_GTC=3322,2573,608;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_144699.3:c.2736+48T>G,NM_001001734.1:c.144+48T>G;ESP6500_MAF=34.5116,18.6337,29.1327;ESP6500_TAC=9217,3789	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:160177712_T_G:475,33,0
chr1	160177720	rs731853	G	A	421.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs731853;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|18/21|c.2736+56G>A||||||,A|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_001001734.1|protein_coding|1/4|c.144+56G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1455;p3_1000G_AF=0.290535;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=19207;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.327;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160147510;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:160177712_T_G:450,30,0
chr1	160181631	rs11265350	G	C	740.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11265350;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|18/21|c.2737-53G>C||||||,C|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_001001734.1|protein_coding|1/4|c.145-53G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=17596;p3_1000G_EAS_AF=0.6409;p3_1000G_EUR_AF=0.325;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160151421;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:769,66,0
chr1	160181660	rs7519748	T	C	1142.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.63;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7519748;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|18/21|c.2737-24T>C||||||,C|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_001001734.1|protein_coding|1/4|c.145-24T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4034;p3_1000G_AF=0.805511;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=18874;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.6909;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160151450;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3791,615;ESP6500_AA_AGE=268.0+/-268.2;ESP6500_AA_GTC=1644,503,56;ESP6500_CDS_SIZES=NM_144699.3:3090,NM_001001734.1:498;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=110;ESP6500_EA_AC=5802,2798;ESP6500_EA_AGE=441.1+/-359.7;ESP6500_EA_GTC=1961,1880,459;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144699.3:intron,NM_001001734.1:intron;ESP6500_GL=ATP1A4;ESP6500_GRCh38_POSITION=1:160181660;ESP6500_GTC=3605,2383,515;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144699.3:c.2737-24T>C,NM_001001734.1:c.145-24T>C;ESP6500_MAF=32.5349,13.9582,26.2417;ESP6500_TAC=9593,3413	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1171,99,0
chr1	160181834	rs36097870;~rs36097870	G	GC	2683.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=0.768;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs36097870;dbSNPBuildID=126;ANN=GC|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|19/21|c.2867+23dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_001001734.1|protein_coding|2/4|c.275+23dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCCC|CCC|CCCC|deletion;p3_1000G_AC=3423;p3_1000G_AF=0.683506;p3_1000G_AFR_AF=0.6067;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=17395;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.5775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160151624;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6626;p3_1000G_VT=INDEL;ESP6500_AA_AC=2620,1646;ESP6500_AA_GTC=800,1020,313;ESP6500_CDS_SIZES=NM_144699.3:3090,NM_001001734.1:498;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=119;ESP6500_EA_AC=4735,3519;ESP6500_EA_GTC=1382,1971,774;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144699.3:intron,NM_001001734.1:intron;ESP6500_GL=ATP1A4;ESP6500_GRCh38_POSITION=1:160181834;ESP6500_GTC=2182,2991,1087;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_144699.3:c.2867+20_2867+21insC,NM_001001734.1:c.275+20_275+21insC;ESP6500_MAF=42.6339,38.5842,41.254;ESP6500_TAC=7355,5165	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2721,244,0
chr1	160186237	rs12131640	C	G	1195.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12131640;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|CASQ1|CASQ1|transcript|NM_001231.4|protein_coding||c.-4515C>G|||||4258|,G|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_144699.3|protein_coding|20/21|c.2970-39C>G||||||,G|intron_variant|MODIFIER|ATP1A4|ATP1A4|transcript|NM_001001734.1|protein_coding|3/4|c.378-39C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=1888;p3_1000G_AF=0.376997;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=16507;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.3529;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160156027;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA_AC=1228,3178;ESP6500_AA_AGE=706.4+/-407.4;ESP6500_AA_GTC=168,892,1143;ESP6500_CDS_SIZES=NM_144699.3:3090,NM_001001734.1:498;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=186;ESP6500_EA_AC=2798,5802;ESP6500_EA_AGE=677.7+/-403.4;ESP6500_EA_GTC=450,1898,1952;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144699.3:intron,NM_001001734.1:intron;ESP6500_GL=ATP1A4;ESP6500_GRCh38_POSITION=1:160186237;ESP6500_GTC=618,2790,3095;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_144699.3:c.2970-39C>G,NM_001001734.1:c.378-39C>G;ESP6500_MAF=32.5349,27.8711,30.9549;ESP6500_TAC=4026,8980	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1224,120,0
chr1	160193656	rs3747621	C	T	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.998;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747621;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CASQ1|CASQ1|transcript|NM_001231.4|protein_coding|2/10|c.365-91C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2417;p3_1000G_AF=0.482628;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=16981;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.5179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160163446;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:188,0,167
chr1	160193719	rs3747623	C	T	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.316;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.732;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=2.82;SOR=2.187;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747623;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CASQ1|CASQ1|transcript|NM_001231.4|protein_coding|2/10|c.365-28C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1522;p3_1000G_AF=0.303914;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=19822;p3_1000G_EAS_AF=0.5665;p3_1000G_EUR_AF=0.3728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160163509;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=455,3951;ESP6500_AA_AGE=217.1+/-235.6;ESP6500_AA_GTC=18,419,1766;ESP6500_CDS_SIZES=NM_001231.4:1191;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=102;ESP6500_EA_AC=3317,5283;ESP6500_EA_AGE=490.2+/-372.8;ESP6500_EA_GTC=652,2013,1635;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001231.4:intron;ESP6500_GL=CASQ1;ESP6500_GRCh38_POSITION=1:160193719;ESP6500_GTC=670,2432,3401;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001231.4:c.365-28C>T;ESP6500_MAF=38.5698,10.3268,29.002;ESP6500_TAC=3772,9234	GT:AD:DP:GQ:PL	0/1:9,15:24:99:491,0,215
chr1	160195652	rs796580606	G	GC	23.75	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=2.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=-1.193;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35846599;dbSNPBuildID=146;ANN=GC|intron_variant|MODIFIER|CASQ1|CASQ1|transcript|NM_001231.4|protein_coding|5/10|c.651+129dupC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,5:23:61:0|1:160195652_G_GC:61,0,754
chr1	160195661	rs10908769	C	T	559.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.626;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.644;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=0.816;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs66663076,rs10908769;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CASQ1|CASQ1|transcript|NM_001231.4|protein_coding|5/10|c.651+127C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1756;p3_1000G_AF=0.350639;p3_1000G_AFR_AF=0.2383;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=12781;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.4652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160165451;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,20:25:99:1|0:160195652_G_GC:588,0,150
chr1	160198578	rs822450	G	A	583.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.807;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=2.11;SOR=1.139;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs822450;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|LOC729867|LOC729867|transcript|NR_123725.1|pseudogene||n.*3621C>T|||||3621|,A|intron_variant|MODIFIER|CASQ1|CASQ1|transcript|NM_001231.4|protein_coding|7/10|c.829-99G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1631;p3_1000G_AF=0.325679;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=21736;p3_1000G_EAS_AF=0.5476;p3_1000G_EUR_AF=0.4264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160168368;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,20:28:99:612,0,196
chr1	160201078	rs11276892;rs371850710	CTAACCCA	C	862.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=2.093;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11276892,rs66467574,rs371850710;dbSNPBuildID=132,138;ANN=C|upstream_gene_variant|MODIFIER|PEA15|PEA15|transcript|NM_001297576.1|protein_coding||c.-7526_-7520delTAACCCA|||||4240|,C|upstream_gene_variant|MODIFIER|PEA15|PEA15|transcript|NM_001297577.1|protein_coding||c.-10466_-10460delTAACCCA|||||4240|,C|upstream_gene_variant|MODIFIER|PEA15|PEA15|transcript|NM_001297578.1|protein_coding||c.-10466_-10460delTAACCCA|||||4240|,C|upstream_gene_variant|MODIFIER|PEA15|PEA15|transcript|NM_003768.4|protein_coding||c.-10466_-10460delTAACCCA|||||4240|,C|upstream_gene_variant|MODIFIER|PEA15|PEA15|transcript|NR_123724.1|pseudogene||n.-4240_-4234delTAACCCA|||||4240|,C|downstream_gene_variant|MODIFIER|LOC729867|LOC729867|transcript|NR_123725.1|pseudogene||n.*1114_*1120delTGGGTTA|||||1120|,C|intron_variant|MODIFIER|CASQ1|CASQ1|transcript|NM_001231.4|protein_coding|10/10|c.1060-157_1060-151delACCCATA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4929;p3_1000G_AF=0.984225;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=17988;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160170868;p3_1000G_GRCH37_REF=CTAACCCA;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,20:20:60:900,60,0
chr1	160208566	rs667306	A	G	878.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs667306;dbSNPBuildID=83;ANN=G|5_prime_UTR_variant|MODIFIER|PEA15|PEA15|transcript|NM_001297576.1|protein_coding|3/6|c.-39A>G|||||39|,G|intron_variant|MODIFIER|LOC729867|LOC729867|transcript|NR_123725.1|pseudogene|1/4|n.27-179T>C||||||,G|intron_variant|MODIFIER|PEA15|PEA15|transcript|NM_001297577.1|protein_coding|2/4|c.-3+1329A>G||||||,G|intron_variant|MODIFIER|PEA15|PEA15|transcript|NM_001297578.1|protein_coding|1/3|c.-2-2977A>G||||||,G|intron_variant|MODIFIER|PEA15|PEA15|transcript|NM_003768.4|protein_coding|1/3|c.-2-2977A>G||||||,G|intron_variant|MODIFIER|PEA15|PEA15|transcript|NR_123724.1|pseudogene|1/2|n.204+3044A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=4960;p3_1000G_AF=0.990415;p3_1000G_AFR_AF=0.9644;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18554;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160178356;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:907,72,0
chr1	160282002	rs2795067	A	G	673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=1.23;SOR=0.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2795067;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PEX19|PEX19|transcript|NM_002857.3|protein_coding|5/7|c.594+37T>C||||||,G|intron_variant|MODIFIER|PEX19|PEX19|transcript|NM_001193644.1|protein_coding|5/7|c.594+37T>C||||||,G|intron_variant|MODIFIER|PEX19|PEX19|transcript|NR_036492.1|pseudogene|4/6|n.511+37T>C||||||,G|intron_variant|MODIFIER|PEX19|PEX19|transcript|NR_036493.1|pseudogene|4/6|n.535+37T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3357;p3_1000G_AF=0.670327;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=22359;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.5676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160251792;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3771,635;ESP6500_AA_AGE=268.9+/-268.7;ESP6500_AA_GTC=1609,553,41;ESP6500_CDS_SIZES=NM_002857.3:900,NM_001193644.1:840;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=4754,3846;ESP6500_EA_AGE=529.5+/-381.6;ESP6500_EA_GTC=1323,2108,869;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002857.3:intron,NM_001193644.1:intron;ESP6500_GL=PEX19;ESP6500_GRCh38_POSITION=1:160282002;ESP6500_GTC=2932,2661,910;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002857.3:c.594+37T>C,NM_001193644.1:c.594+37T>C;ESP6500_MAF=44.7209,14.4122,34.4533;ESP6500_TAC=8525,4481	GT:AD:DP:GQ:PL	0/1:22,25:47:99:702,0,546
chr1	160290443	rs2298104	T	C	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.77;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=0.736;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298104;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COPA|COPA|transcript|NM_001098398.1|protein_coding|32/32|c.3642+49A>G||||||,C|intron_variant|MODIFIER|COPA|COPA|transcript|NM_004371.3|protein_coding|32/32|c.3615+49A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2116;p3_1000G_AF=0.422524;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=20898;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160260233;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1140,3266;ESP6500_AA_AGE=396.5+/-330.1;ESP6500_AA_GTC=149,842,1212;ESP6500_CDS_SIZES=NM_004371.3:3675,NM_001098398.1:3702;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=4304,4296;ESP6500_EA_AGE=567.7+/-388.9;ESP6500_EA_GTC=1083,2138,1079;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004371.3:intron,NM_001098398.1:intron;ESP6500_GL=COPA;ESP6500_GRCh38_POSITION=1:160290443;ESP6500_GTC=1232,2980,2291;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004371.3:c.3615+49A>G,NM_001098398.1:c.3642+49A>G;ESP6500_MAF=49.9535,25.8738,41.8576;ESP6500_TAC=5444,7562	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,8:17:99:0|1:160290443_T_C:288,0,354
chr1	160290451	rs372293699	C	T	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.102;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.59;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|COPA|COPA|transcript|NM_001098398.1|protein_coding|32/32|c.3642+41G>A||||||,T|intron_variant|MODIFIER|COPA|COPA|transcript|NM_004371.3|protein_coding|32/32|c.3615+41G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21180;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160260241;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,11:22:99:1|0:160290443_T_C:314,0,398
chr1	160293334	rs1317944	C	T	390.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.144;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.727;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1317944;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|COPA|COPA|transcript|NM_001098398.1|protein_coding|26/32|c.2781+52G>A||||||,T|intron_variant|MODIFIER|COPA|COPA|transcript|NM_004371.3|protein_coding|26/32|c.2754+52G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3351;p3_1000G_AF=0.669129;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=16785;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160263124;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2699,437;ESP6500_AA_GTC=1161,377,30;ESP6500_CDS_SIZES=NM_004371.3:3675,NM_001098398.1:3702;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=31;ESP6500_EA_AC=3941,3223;ESP6500_EA_GTC=1089,1763,730;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004371.3:intron,NM_001098398.1:intron;ESP6500_GL=COPA;ESP6500_GRCh38_POSITION=1:160293334;ESP6500_GTC=2250,2140,760;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004371.3:c.2754+52G>A,NM_001098398.1:c.2781+52G>A;ESP6500_MAF=44.9888,13.9349,35.534;ESP6500_TAC=6640,3660	GT:AD:DP:GQ:PL	0/1:17,17:34:99:419,0,481
chr1	160293496	rs368176604	AT	A	16.82	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=-0.303;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs368176604;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|COPA|COPA|transcript|NM_001098398.1|protein_coding|25/32|c.2704-34delA||||||,A|intron_variant|MODIFIER|COPA|COPA|transcript|NM_004371.3|protein_coding|25/32|c.2677-34delA||||||	GT:AD:DP:GQ:PL	0/1:6,4:10:54:54,0,117
chr1	160295725	rs3789042	T	C	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.049;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.159;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3789042;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|COPA|COPA|transcript|NM_001098398.1|protein_coding|23/32|c.2503+11A>G||||||,C|intron_variant|MODIFIER|COPA|COPA|transcript|NM_004371.3|protein_coding|23/32|c.2476+11A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2269;p3_1000G_AF=0.453075;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=20275;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.5109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160265515;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1576,2830;ESP6500_AA_AGE=491.7+/-362.2;ESP6500_AA_GTC=275,1026,902;ESP6500_CDS_SIZES=NM_004371.3:3675,NM_001098398.1:3702;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=85;ESP6500_EA_AC=4317,4283;ESP6500_EA_AGE=578.8+/-390.8;ESP6500_EA_GTC=1087,2143,1070;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004371.3:intron,NM_001098398.1:intron;ESP6500_GL=COPA;ESP6500_GRCh38_POSITION=1:160295725;ESP6500_GTC=1362,3169,1972;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004371.3:c.2476+11A>G,NM_001098398.1:c.2503+11A>G;ESP6500_MAF=49.8023,35.7694,45.3099;ESP6500_TAC=5893,7113	GT:AD:DP:GQ:PL	0/1:10,12:22:99:265,0,207
chr1	160305644	rs2066320	A	G	1672.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=0.813;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2066320;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|COPA|COPA|transcript|NM_001098398.1|protein_coding|16/32|c.1528+44T>C||||||,G|intron_variant|MODIFIER|COPA|COPA|transcript|NM_004371.3|protein_coding|16/32|c.1528+44T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4898;p3_1000G_AF=0.978035;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=18718;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160275434;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4358,48;ESP6500_AA_AGE=49.6+/-84.7;ESP6500_AA_GTC=2155,48,0;ESP6500_CDS_SIZES=NM_004371.3:3675,NM_001098398.1:3702;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=111;ESP6500_EA_AC=8170,430;ESP6500_EA_AGE=132.2+/-189.8;ESP6500_EA_GTC=3882,406,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004371.3:intron,NM_001098398.1:intron;ESP6500_GL=COPA;ESP6500_GRCh38_POSITION=1:160305644;ESP6500_GTC=6037,454,12;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004371.3:c.1528+44T>C,NM_001098398.1:c.1528+44T>C;ESP6500_MAF=5.0,1.0894,3.6752;ESP6500_TAC=12528,478	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,51:51:99:1|1:160305644_A_G:1701,152,0
chr1	160332654	rs4656897	G	A	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.638;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.38;ReadPosRankSum=-1.235;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4656897;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|COPA|COPA|transcript|NM_001098398.1|protein_coding|5/32|c.387-97C>T||||||,A|intron_variant|MODIFIER|COPA|COPA|transcript|NM_004371.3|protein_coding|5/32|c.387-97C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3347;p3_1000G_AF=0.668331;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=17398;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160302444;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:82:82,0,262
chr1	160333626	rs1802778	G	A	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.242;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.799;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1802778;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|COPA|COPA|transcript|NM_001098398.1|protein_coding|5/33|c.363C>T|p.Asn121Asn|757/5666|363/3702|121/1233||,A|synonymous_variant|LOW|COPA|COPA|transcript|NM_004371.3|protein_coding|5/33|c.363C>T|p.Asn121Asn|757/5639|363/3675|121/1224||;p3_1000G_AA=A|||;p3_1000G_AC=3319;p3_1000G_AF=0.66274;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=18939;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.5517;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160303416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3761,645;ESP6500_AA_AGE=277.2+/-273.6;ESP6500_AA_GTC=1602,557,44;ESP6500_CDS_SIZES=NM_004371.3:3675,NM_001098398.1:3702;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=70;ESP6500_EA_AC=4624,3976;ESP6500_EA_AGE=552.2+/-386.1;ESP6500_EA_GTC=1251,2122,927;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004371.3:coding-synonymous,NM_001098398.1:coding-synonymous;ESP6500_GL=COPA;ESP6500_GRCh38_POSITION=1:160333626;ESP6500_GTC=2853,2679,971;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004371.3:c.363C>T,NM_001098398.1:c.363C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004371.3:p.(N121),NM_001098398.1:p.(N121);ESP6500_MAF=46.2326,14.6391,35.5298;ESP6500_TAC=8385,4621	GT:AD:DP:GQ:PL	0/1:27,18:45:99:436,0,749
chr1	160339874	rs1886419	T	G	866.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.925;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=6.658;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.24;SOR=0.237;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1886419;dbSNPBuildID=92;ANN=G|upstream_gene_variant|MODIFIER|NCSTN|NCSTN|transcript|NM_015331.2|protein_coding||c.-3523T>G|||||3399|,G|upstream_gene_variant|MODIFIER|NCSTN|NCSTN|transcript|NM_001290184.1|protein_coding||c.-4716T>G|||||3399|,G|upstream_gene_variant|MODIFIER|NCSTN|NCSTN|transcript|NM_001290186.1|protein_coding||c.-3523T>G|||||3399|,G|intron_variant|MODIFIER|COPA|COPA|transcript|NM_001098398.1|protein_coding|3/32|c.228+35A>C||||||,G|intron_variant|MODIFIER|COPA|COPA|transcript|NM_004371.3|protein_coding|3/32|c.228+35A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3342;p3_1000G_AF=0.667332;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=18174;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.5626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160309664;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3776,630;ESP6500_AA_AGE=271.0+/-269.9;ESP6500_AA_GTC=1614,548,41;ESP6500_CDS_SIZES=NM_004371.3:3675,NM_001098398.1:3702;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=87;ESP6500_EA_AC=4747,3853;ESP6500_EA_AGE=540.0+/-383.7;ESP6500_EA_GTC=1315,2117,868;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004371.3:intron,NM_001098398.1:intron;ESP6500_GL=COPA;ESP6500_GRCh38_POSITION=1:160339874;ESP6500_GTC=2929,2665,909;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004371.3:c.228+35A>C,NM_001098398.1:c.228+35A>C;ESP6500_MAF=44.8023,14.2987,34.4687;ESP6500_TAC=8523,4483	GT:AD:DP:GQ:PL	0/1:34,35:69:99:895,0,855
chr1	160424115	rs12086448	A	G	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.34;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=4.957;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.384;SOR=1.56;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12086448;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|VANGL2|VANGL2|transcript|NM_020335.2|protein_coding|7/8|c.1137A>G|p.Lys379Lys|1623/5352|1137/1566|379/521||;p3_1000G_AA=G|||;p3_1000G_AC=2888;p3_1000G_AF=0.576677;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=15789;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160393905;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6564;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3395,1011;ESP6500_AA_AGE=376.8+/-322.2;ESP6500_AA_GTC=1323,749,131;ESP6500_CDS_SIZES=NM_020335.2:1566;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=88;ESP6500_EA_AC=4522,4078;ESP6500_EA_AGE=560.2+/-387.5;ESP6500_EA_GTC=1201,2120,979;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020335.2:coding-synonymous;ESP6500_GL=VANGL2;ESP6500_GRCh38_POSITION=1:160424115;ESP6500_GTC=2524,2869,1110;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020335.2:c.1137A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020335.2:p.(K379);ESP6500_MAF=47.4186,22.946,39.1281;ESP6500_TAC=7917,5089	GT:AD:DP:GQ:PL	0/1:20,17:37:99:542,0,527
chr1	160425486	rs5778163	C	CT	34.84	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=-0.674;SOR=0.916;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5778163;dbSNPBuildID=137;ANN=CT|3_prime_UTR_variant|MODIFIER|VANGL2|VANGL2|transcript|NM_020335.2|protein_coding|8/8|c.*118dupT|||||119|INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2763;p3_1000G_AF=0.551717;p3_1000G_AFR_AF=0.7776;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=13132;p3_1000G_EAS_AF=0.3611;p3_1000G_EUR_AF=0.4761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160395276;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,3:4:16:72,0,16
chr1	160488992	rs3795327	A	G	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.12;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.222;SOR=1.3;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795327;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184714.1|protein_coding|6/7|c.879+96T>C||||||,G|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184715.1|protein_coding|6/7|c.729+96T>C||||||,G|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184716.1|protein_coding|5/6|c.546+96T>C||||||,G|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_052931.4|protein_coding|6/7|c.876+96T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3084;p3_1000G_AF=0.615815;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=22566;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.7087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160458782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,18:33:99:414,0,359
chr1	160490119	rs12119876	C	A	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.583;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.79;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12119876;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184714.1|protein_coding|5/7|c.796+79G>T||||||,A|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184715.1|protein_coding|5/7|c.649+79G>T||||||,A|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184716.1|protein_coding|4/6|c.463+79G>T||||||,A|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_052931.4|protein_coding|5/7|c.796+79G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=836;p3_1000G_AF=0.166933;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=21434;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160459909;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=206,1178;ESP6500_AA_GTC=20,166,506;ESP6500_CDS_SIZES=NM_052931.4:996,NM_001184716.1:666,NM_001184715.1:849,NM_001184714.1:999;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=617,2565;ESP6500_EA_GTC=55,507,1029;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052931.4:intron,NM_001184716.1:intron,NM_001184715.1:intron,NM_001184714.1:intron;ESP6500_GL=SLAMF6;ESP6500_GRCh38_POSITION=1:160490119;ESP6500_GTC=75,673,1535;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_052931.4:c.796+79G>T,NM_001184716.1:c.463+79G>T,NM_001184715.1:c.649+79G>T,NM_001184714.1:c.796+79G>T;ESP6500_MAF=19.3903,14.8844,18.0245;ESP6500_TAC=823,3743	GT:AD:DP:GQ:PL	0/1:10,10:20:99:254,0,321
chr1	160490309	rs11265413	T	A	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.405;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11265413;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184714.1|protein_coding|4/7|c.758-73A>T||||||,A|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184715.1|protein_coding|4/7|c.611-73A>T||||||,A|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_001184716.1|protein_coding|3/6|c.425-73A>T||||||,A|intron_variant|MODIFIER|SLAMF6|SLAMF6|transcript|NM_052931.4|protein_coding|4/7|c.758-73A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=843;p3_1000G_AF=0.168331;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=21205;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160460099;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=207,1177;ESP6500_AA_GTC=20,167,505;ESP6500_CDS_SIZES=NM_052931.4:996,NM_001184716.1:666,NM_001184715.1:849,NM_001184714.1:999;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=59;ESP6500_EA_AC=618,2564;ESP6500_EA_GTC=55,508,1028;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052931.4:intron,NM_001184716.1:intron,NM_001184715.1:intron,NM_001184714.1:intron;ESP6500_GL=SLAMF6;ESP6500_GRCh38_POSITION=1:160490309;ESP6500_GTC=75,675,1533;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_052931.4:c.758-73A>T,NM_001184716.1:c.425-73A>T,NM_001184715.1:c.611-73A>T,NM_001184714.1:c.758-73A>T;ESP6500_MAF=19.4217,14.9566,18.0683;ESP6500_TAC=825,3741	GT:AD:DP:GQ:PL	0/1:6,7:13:99:208,0,131
chr1	160610225	rs1061217	A	G	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.031;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.785;SOR=0.238;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1061217;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NM_003037.3|protein_coding|7/7|c.*523T>C|||||523|,G|non_coding_transcript_exon_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104399.1|pseudogene|6/6|n.1823T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104400.1|pseudogene|5/5|n.1733T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104401.1|pseudogene|6/6|n.1818T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2351;p3_1000G_AF=0.469449;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=19203;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.5656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160580015;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:195,0,249
chr1	160612410	rs200238058	T	TA	205.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.531;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.86;ReadPosRankSum=0.732;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs200238058;dbSNPBuildID=137;ANN=TA|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NM_003037.3|protein_coding|6/6|c.957+77dupT||||||,TA|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104399.1|pseudogene|5/5|n.1249+77dupT||||||,TA|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104400.1|pseudogene|4/4|n.1159+77dupT||||||,TA|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104401.1|pseudogene|5/5|n.1244+77dupT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,6:9:99:0|1:160612410_T_TA:243,0,111
chr1	160612423	rs2025515	C	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=1.35;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2025515;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NM_003037.3|protein_coding|6/6|c.957+65G>T||||||,A|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104399.1|pseudogene|5/5|n.1249+65G>T||||||,A|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104400.1|pseudogene|4/4|n.1159+65G>T||||||,A|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104401.1|pseudogene|5/5|n.1244+65G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2005;p3_1000G_AF=0.400359;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=15757;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160582213;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,6:11:99:0|1:160612410_T_TA:237,0,180
chr1	160612458	rs11265449	C	G	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.563;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11265449;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NM_003037.3|protein_coding|6/6|c.957+30G>C||||||,G|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104399.1|pseudogene|5/5|n.1249+30G>C||||||,G|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104400.1|pseudogene|4/4|n.1159+30G>C||||||,G|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104401.1|pseudogene|5/5|n.1244+30G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2005;p3_1000G_AF=0.400359;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=15637;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160582248;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=576,3830;ESP6500_AA_AGE=253.4+/-259.3;ESP6500_AA_GTC=41,494,1668;ESP6500_CDS_SIZES=NM_003037.2:1008;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=3927,4673;ESP6500_EA_AGE=535.8+/-382.9;ESP6500_EA_GTC=889,2149,1262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003037.2:intron;ESP6500_GL=SLAMF1;ESP6500_GRCh38_POSITION=1:160612458;ESP6500_GTC=930,2643,2930;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003037.2:c.957+30G>C;ESP6500_MAF=45.6628,13.0731,34.6225;ESP6500_TAC=4503,8503	GT:AD:DP:GQ:PL	0/1:7,8:15:99:233,0,219
chr1	160634382	rs164287	T	G	310.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs164287;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NM_003037.3|protein_coding|3/6|c.700+231A>C||||||,G|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104399.1|pseudogene|3/5|n.1066+231A>C||||||,G|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104400.1|pseudogene|3/4|n.1066+231A>C||||||,G|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104401.1|pseudogene|3/5|n.1061+231A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4955;p3_1000G_AF=0.989417;p3_1000G_AFR_AF=0.9614;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20150;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160604172;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:339,24,0
chr1	160635073	rs3766362	A	T	643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.36;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3766362;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NM_003037.3|protein_coding|2/6|c.416-176T>A||||||,T|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104399.1|pseudogene|2/5|n.782-176T>A||||||,T|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104400.1|pseudogene|2/4|n.782-176T>A||||||,T|intron_variant|MODIFIER|SLAMF1|SLAMF1|transcript|NR_104401.1|pseudogene|2/5|n.782-181T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3235;p3_1000G_AF=0.645966;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=20446;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160604863;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:672,54,0
chr1	160681123	rs4656926	A	G	1252.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656926;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|CD48|CD48|transcript|NM_001256030.1|protein_coding|3/3|c.731T>C|p.Ile244Thr|819/1520|731/759|244/252||,G|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|3/3|c.652+79T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4150;p3_1000G_AF=0.828674;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=19552;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160650913;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:93:1|1:160681123_A_G:1281,93,0
chr1	160681128	rs142100077	AC	A	518.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.018;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=0.019;SOR=0.551;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs142100077;dbSNPBuildID=134;ANN=A|frameshift_variant|HIGH|CD48|CD48|transcript|NM_001256030.1|protein_coding|3/3|c.725delG|p.Gly242fs|813/1520|725/759|242/252||,A|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|3/3|c.652+73delG||||||;p3_1000G_AA=CCCCC|CCCCC|CCCC|deletion;p3_1000G_AC=216;p3_1000G_AF=0.043131;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=20016;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160650918;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,20:32:99:0|1:160681123_A_G:556,0,295
chr1	160697262	rs200473535	C	T	51.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.56;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.4;MQRankSum=-2.649;QD=4.31;ReadPosRankSum=0.799;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200473535;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12073G>A||||||,T|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12073G>A||||||	GT:AD:DP:GQ:PL	0/1:8,4:12:80:80,0,317
chr1	160697264	rs201415067	C	T	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.697;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.4;MQRankSum=-2.113;QD=16.23;ReadPosRankSum=1.21;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201415067;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12075G>A||||||,T|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12075G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2328;p3_1000G_AF=0.464856;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=40264;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160667054;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:223,0,143
chr1	160697329	rs77109454	T	C	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.037;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.27;MQRankSum=-1.114;QD=11.46;ReadPosRankSum=0.55;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77109454;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12140A>G||||||,C|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12140A>G||||||	GT:AD:DP:GQ:PL	0/1:7,12:19:99:246,0,160
chr1	160697340	rs77306260	G	C	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.196;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=48.21;MQRankSum=-1.168;QD=13.19;ReadPosRankSum=1.07;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77306260;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12151C>G||||||,C|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12151C>G||||||	GT:AD:DP:GQ:PL	0/1:6,14:20:99:292,0,161
chr1	160697367	rs75749069	G	T	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.202;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.71;MQRankSum=-0.897;QD=25.43;ReadPosRankSum=0.593;SOR=0.625;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200661474;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12178C>A||||||,T|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12178C>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2287;p3_1000G_AF=0.456669;p3_1000G_AFR_AF=0.4614;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200661474;p3_1000G_DP=34110;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.4503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160667157;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,13:18:99:0|1:160697367_G_T:486,0,171
chr1	160697370	rs78592744	T	A	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.462;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.98;MQRankSum=-0.806;QD=28.61;ReadPosRankSum=1.2;SOR=0.654;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201820315;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12181A>T||||||,A|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12181A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=2287;p3_1000G_AF=0.456669;p3_1000G_AFR_AF=0.4614;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs201820315;p3_1000G_DP=32131;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.4503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160667160;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,11:16:99:0|1:160697367_G_T:486,0,171
chr1	160697378	rs75396631	T	G	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.167;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.533;MLEAC=1;MLEAF=0.5;MQ=45.75;MQRankSum=0.256;QD=23.81;ReadPosRankSum=1.58;SOR=1.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200897427;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12189A>C||||||,G|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12189A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,7:12:99:0|1:160697367_G_T:314,0,166
chr1	160697398	rs1368204895	G	C	22.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.428;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.69;MQRankSum=-1.532;QD=1.75;ReadPosRankSum=-1.56;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12209C>G||||||,C|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12209C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,2:13:51:0|1:160697398_G_C:51,0,456
chr1	160697399	rs903211987	C	T	22.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.428;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.69;MQRankSum=-1.532;QD=1.75;ReadPosRankSum=-1.36;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12210G>A||||||,T|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12210G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,2:13:51:0|1:160697398_G_C:51,0,456
chr1	160697413	rs76159323	G	A	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.05;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.616;MLEAC=1;MLEAF=0.5;MQ=43.32;MQRankSum=0.186;QD=14.48;ReadPosRankSum=-1.471;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201529608;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001256030.1|protein_coding|1/2|c.83-12224C>T||||||,A|intron_variant|MODIFIER|CD48|CD48|transcript|NM_001778.3|protein_coding|1/3|c.83-12224C>T||||||	GT:AD:DP:GQ:PL	0/1:4,8:12:99:202,0,123
chr1	160748082	rs527733	T	G	319.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs527733;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_021181.4|protein_coding|1/6|c.56-112T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282588.1|protein_coding|1/3|c.56-112T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282589.1|protein_coding|1/4|c.56-112T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282590.1|protein_coding|1/5|c.56-1739T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282591.1|protein_coding|1/4|c.56-1739T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282592.1|protein_coding|1/5|c.56-112T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282593.1|protein_coding|1/3|c.56-1739T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282594.1|protein_coding|1/5|c.56-1739T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282595.1|protein_coding|1/5|c.-26-1739T>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282596.1|protein_coding|1/4|c.56-1739T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20028;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160717872;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:348,24,0
chr1	160752274	rs527342	A	G	773.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.95;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs527342;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_021181.4|protein_coding|6/6|c.936+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282588.1|protein_coding|3/3|c.439+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282589.1|protein_coding|4/4|c.543+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282590.1|protein_coding|5/5|c.615+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282591.1|protein_coding|4/4|c.495+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282592.1|protein_coding|5/5|c.832+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282593.1|protein_coding|3/3|c.391+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282594.1|protein_coding|5/5|c.654+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282595.1|protein_coding|5/5|c.534+26A>G||||||,G|intron_variant|MODIFIER|SLAMF7|SLAMF7|transcript|NM_001282596.1|protein_coding|4/4|c.511+26A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4551;p3_1000G_AF=0.908746;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=17601;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.9771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160722064;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3552,854;ESP6500_AA_AGE=739.5+/-411.1;ESP6500_AA_GTC=1431,690,82;ESP6500_CDS_SIZES=NM_021181.3:1008;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=66;ESP6500_EA_AC=8381,219;ESP6500_EA_AGE=807.0+/-407.2;ESP6500_EA_GTC=4085,211,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021181.3:intron;ESP6500_GL=SLAMF7;ESP6500_GRCh38_POSITION=1:160752274;ESP6500_GTC=5516,901,86;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021181.3:c.936+26A>G;ESP6500_MAF=2.5465,19.3827,8.25;ESP6500_TAC=11933,1073	GT:AD:DP:GQ:PL	1/1:0,25:25:75:802,75,0
chr1	160797194	rs73017956	G	A	804.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.176;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.425;SOR=0.604;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73017956;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|1/9|c.124+883G>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001033667.2|protein_coding|1/2|c.124+883G>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|1/9|c.124+883G>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|1/8|c.124+883G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=258;p3_1000G_AF=0.0515176;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=18963;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160766984;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,32:68:99:833,0,952
chr1	160797270	rs508578	G	A	483.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-1.568;SOR=1.264;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs508578;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|1/9|c.124+959G>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001033667.2|protein_coding|1/2|c.124+959G>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|1/9|c.124+959G>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|1/8|c.124+959G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1612;p3_1000G_AF=0.321885;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=19265;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.2773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160767060;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,17:34:99:512,0,574
chr1	160798681	rs546669	C	A	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.96;ReadPosRankSum=0;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs546669;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|1/9|c.125-1072C>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001033667.2|protein_coding|1/2|c.125-1072C>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|1/9|c.125-1072C>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|1/8|c.125-1072C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1601;p3_1000G_AF=0.319688;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=17387;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.2773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160768471;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:64:64,0,109
chr1	160801971	rs1556517	C	A	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.43;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=6.628;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.49;SOR=2.786;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1556517;dbSNPBuildID=88;ANN=A|3_prime_UTR_variant|MODIFIER|LY9|LY9|transcript|NM_001033667.2|protein_coding|3/3|c.*54C>A|||||54|,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|2/9|c.454+1889C>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|2/9|c.454+1889C>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|2/8|c.454+1889C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1059;p3_1000G_AF=0.211462;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=11158;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.2316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160771761;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:401,0,312
chr1	160816880	rs560681	A	G	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.6;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.021;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs560681;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|5/9|c.1342+17A>G||||||,G|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|5/9|c.1342+17A>G||||||,G|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|4/8|c.1073-1338A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1689;p3_1000G_AF=0.33726;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=17266;p3_1000G_EAS_AF=0.3681;p3_1000G_EUR_AF=0.2773;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160786670;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1383,3023;ESP6500_AA_AGE=456.3+/-351.3;ESP6500_AA_GTC=204,975,1024;ESP6500_CDS_SIZES=NM_002348.3:1968,NM_001261457.1:1698,NM_001261456.1:1926;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=77;ESP6500_EA_AC=2655,5945;ESP6500_EA_AGE=428.2+/-355.8;ESP6500_EA_GTC=378,1899,2023;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002348.3:intron,NM_001261457.1:intron,NM_001261456.1:intron;ESP6500_GL=LY9;ESP6500_GRCh38_POSITION=1:160816880;ESP6500_GTC=582,2874,3047;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002348.3:c.1342+17A>G,NM_001261457.1:c.1073-1338A>G,NM_001261456.1:c.1342+17A>G;ESP6500_MAF=30.8721,31.389,31.0472;ESP6500_TAC=4038,8968	GT:AD:DP:GQ:PL	0/1:17,18:35:99:543,0,429
chr1	160818341	rs3817407	T	C	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.289;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.695;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.9;ReadPosRankSum=-2.68;SOR=0.36;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3817407;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|6/9|c.1444+22T>C||||||,C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|6/9|c.1444+22T>C||||||,C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|5/8|c.1174+22T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1785;p3_1000G_AF=0.35643;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=17774;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.2416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160788131;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1637,2769;ESP6500_AA_AGE=503.2+/-365.5;ESP6500_AA_GTC=303,1031,869;ESP6500_CDS_SIZES=NM_002348.3:1968,NM_001261457.1:1698,NM_001261456.1:1926;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=174;ESP6500_EA_AC=1853,6747;ESP6500_EA_AGE=331.4+/-319.6;ESP6500_EA_GTC=189,1475,2636;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002348.3:intron,NM_001261457.1:intron,NM_001261456.1:intron;ESP6500_GL=LY9;ESP6500_GRCh38_POSITION=1:160818341;ESP6500_GTC=492,2506,3505;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002348.3:c.1444+22T>C,NM_001261457.1:c.1174+22T>C,NM_001261456.1:c.1444+22T>C;ESP6500_MAF=21.5465,37.1539,26.8338;ESP6500_TAC=3490,9516	GT:AD:DP:GQ:PL	0/1:22,12:34:99:263,0,574
chr1	160818427	rs575217	T	A	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.087;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.094;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs575217;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|6/9|c.1444+108T>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|6/9|c.1444+108T>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|5/8|c.1174+108T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1673;p3_1000G_AF=0.334065;p3_1000G_AFR_AF=0.2905;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=17309;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160788217;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:230,0,122
chr1	160819406	rs537540	A	C	1142.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.65;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs537540;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|7/9|c.1498+32A>C||||||,C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|7/9|c.1498+32A>C||||||,C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|6/8|c.1228+32A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18654;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160789196;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4286,120;ESP6500_AA_AGE=90.2+/-128.9;ESP6500_AA_GTC=2087,112,4;ESP6500_CDS_SIZES=NM_002348.3:1968,NM_001261457.1:1698,NM_001261456.1:1926;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=80;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002348.3:intron,NM_001261457.1:intron,NM_001261456.1:intron;ESP6500_GL=LY9;ESP6500_GRCh38_POSITION=1:160819406;ESP6500_GTC=6387,112,4;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002348.3:c.1498+32A>C,NM_001261457.1:c.1228+32A>C,NM_001261456.1:c.1498+32A>C;ESP6500_MAF=0.0,2.7236,0.9227;ESP6500_TAC=12886,120	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1171,105,0
chr1	160823652	rs474131	A	G	2521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs474131;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|LY9|LY9|transcript|NM_002348.3|protein_coding|8/10|c.1686A>G|p.Val562Val|1800/2521|1686/1968|562/655||,G|synonymous_variant|LOW|LY9|LY9|transcript|NM_001261456.1|protein_coding|8/10|c.1644A>G|p.Val548Val|1758/2479|1644/1926|548/641||,G|synonymous_variant|LOW|LY9|LY9|transcript|NM_001261457.1|protein_coding|7/9|c.1416A>G|p.Val472Val|1530/2251|1416/1698|472/565||;p3_1000G_AA=G|||;p3_1000G_AC=3166;p3_1000G_AF=0.632188;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=21651;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.4493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160793442;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2805,1601;ESP6500_AA_AGE=496.5+/-363.6;ESP6500_AA_GTC=887,1031,285;ESP6500_CDS_SIZES=NM_002348.3:1968,NM_001261457.1:1698,NM_001261456.1:1926;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=133;ESP6500_EA_AC=3625,4975;ESP6500_EA_AGE=625.2+/-397.7;ESP6500_EA_GTC=758,2109,1433;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002348.3:coding-synonymous,NM_001261457.1:coding-synonymous,NM_001261456.1:coding-synonymous;ESP6500_GL=LY9;ESP6500_GRCh38_POSITION=1:160823652;ESP6500_GTC=1645,3140,1718;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002348.3:c.1686A>G,NM_001261457.1:c.1416A>G,NM_001261456.1:c.1644A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002348.3:p.(V562),NM_001261457.1:p.(V472),NM_001261456.1:p.(V548);ESP6500_MAF=42.1512,36.3368,49.4387;ESP6500_TAC=6430,6576	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2550,216,0
chr1	160823770	rs509749	A	G	2745.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=0.928;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs509749;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|LY9|LY9|transcript|NM_002348.3|protein_coding|8/10|c.1804A>G|p.Met602Val|1918/2521|1804/1968|602/655||,G|missense_variant|MODERATE|LY9|LY9|transcript|NM_001261456.1|protein_coding|8/10|c.1762A>G|p.Met588Val|1876/2479|1762/1926|588/641||,G|missense_variant|MODERATE|LY9|LY9|transcript|NM_001261457.1|protein_coding|7/9|c.1534A>G|p.Met512Val|1648/2251|1534/1698|512/565||;p3_1000G_AA=G|||;p3_1000G_AC=3306;p3_1000G_AF=0.660144;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=22929;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.4503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160793560;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3241,1165;ESP6500_AA_AGE=410.6+/-335.4;ESP6500_AA_GTC=1187,867,149;ESP6500_CDS_SIZES=NM_002348.3:1968,NM_001261457.1:1698,NM_001261456.1:1926;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=142;ESP6500_EA_AC=3625,4975;ESP6500_EA_AGE=625.2+/-397.7;ESP6500_EA_GTC=758,2109,1433;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002348.3:missense,NM_001261457.1:missense,NM_001261456.1:missense;ESP6500_GL=LY9;ESP6500_GRCh38_POSITION=1:160823770;ESP6500_GS=21,21,21;ESP6500_GTC=1945,2976,1582;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002348.3:c.1804A>G,NM_001261457.1:c.1534A>G,NM_001261456.1:c.1762A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002348.3:p.(M602V),NM_001261457.1:p.(M512V),NM_001261456.1:p.(M588V);ESP6500_MAF=42.1512,26.4412,47.209;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=6866,6140	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2774,249,0
chr1	160824172	rs506081	G	C	1551.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=1.067;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs506081;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|8/9|c.1831-9G>C||||||,C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|8/9|c.1789-9G>C||||||,C|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|7/8|c.1561-9G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3185;p3_1000G_AF=0.635982;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=20758;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.4493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160793962;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2890,1516;ESP6500_AA_AGE=481.4+/-359.1;ESP6500_AA_GTC=945,1000,258;ESP6500_CDS_SIZES=NM_002348.3:1968,NM_001261457.1:1698,NM_001261456.1:1926;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=162;ESP6500_EA_AC=3624,4976;ESP6500_EA_AGE=625.2+/-397.7;ESP6500_EA_GTC=758,2108,1434;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002348.3:intron,NM_001261457.1:intron,NM_001261456.1:intron;ESP6500_GL=LY9;ESP6500_GRCh38_POSITION=1:160824172;ESP6500_GTC=1703,3108,1692;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002348.3:c.1831-9G>C,NM_001261457.1:c.1561-9G>C,NM_001261456.1:c.1789-9G>C;ESP6500_MAF=42.1395,34.4076,49.9154;ESP6500_TAC=6514,6492	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1580,144,0
chr1	160827621	rs118040973	G	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.166;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=0.129;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs118040973;dbSNPBuildID=132;ANN=A|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_001166663.1|protein_coding||c.*3726C>T|||||2539|,A|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_001166664.1|protein_coding||c.*3726C>T|||||2539|,A|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_016382.3|protein_coding||c.*3726C>T|||||2539|,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|9/9|c.1900-127G>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|9/9|c.1858-127G>A||||||,A|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|8/8|c.1630-127G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=37;p3_1000G_AF=0.00738818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19322;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160797411;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:237,0,132
chr1	160827724	rs576334	C	G	1188.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs576334;dbSNPBuildID=83;ANN=G|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_001166663.1|protein_coding||c.*3623G>C|||||2436|,G|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_001166664.1|protein_coding||c.*3623G>C|||||2436|,G|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_016382.3|protein_coding||c.*3623G>C|||||2436|,G|intron_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|9/9|c.1900-24C>G||||||,G|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|9/9|c.1858-24C>G||||||,G|intron_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|8/8|c.1630-24C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3152;p3_1000G_AF=0.629393;p3_1000G_AFR_AF=0.6641;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=19654;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.4672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160797514;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6575;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2717,1689;ESP6500_AA_AGE=654.9+/-399.8;ESP6500_AA_GTC=831,1055,317;ESP6500_CDS_SIZES=NM_002348.3:1968,NM_001261457.1:1698,NM_001261456.1:1926;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=118;ESP6500_EA_AC=3847,4753;ESP6500_EA_AGE=541.6+/-384.0;ESP6500_EA_GTC=869,2109,1322;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002348.3:intron,NM_001261457.1:intron,NM_001261456.1:intron;ESP6500_GL=LY9;ESP6500_GRCh38_POSITION=1:160827724;ESP6500_GTC=1700,3164,1639;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002348.3:c.1900-24C>G,NM_001261457.1:c.1630-24C>G,NM_001261456.1:c.1858-24C>G;ESP6500_MAF=44.7326,38.3341,49.531;ESP6500_TAC=6564,6442	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1217,108,0
chr1	160827894	rs574610	A	G	445.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.35;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs574610;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding|10/10|c.*78A>G|||||78|,G|3_prime_UTR_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding|10/10|c.*78A>G|||||78|,G|3_prime_UTR_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding|9/9|c.*78A>G|||||78|,G|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_001166663.1|protein_coding||c.*3453T>C|||||2266|,G|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_001166664.1|protein_coding||c.*3453T>C|||||2266|,G|downstream_gene_variant|MODIFIER|CD244|CD244|transcript|NM_016382.3|protein_coding||c.*3453T>C|||||2266|;p3_1000G_AA=G|||;p3_1000G_AC=3012;p3_1000G_AF=0.601438;p3_1000G_AFR_AF=0.5613;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=18587;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160797684;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:474,36,0
chr1	160831256	rs480104	C	G	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=-1.368;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs480104;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|CD244|CD244|transcript|NM_001166663.1|protein_coding|9/9|c.*91G>C|||||91|,G|3_prime_UTR_variant|MODIFIER|CD244|CD244|transcript|NM_001166664.1|protein_coding|8/8|c.*91G>C|||||91|,G|3_prime_UTR_variant|MODIFIER|CD244|CD244|transcript|NM_016382.3|protein_coding|9/9|c.*91G>C|||||91|,G|downstream_gene_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding||c.*3440C>G|||||3001|,G|downstream_gene_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding||c.*3440C>G|||||3001|,G|downstream_gene_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding||c.*3440C>G|||||3001|;p3_1000G_AA=C|||;p3_1000G_AC=1286;p3_1000G_AF=0.256789;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=20372;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.2008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160801046;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:71:71,0,134
chr1	160832524	rs116915224	C	T	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.119;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=-1.108;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116915224;dbSNPBuildID=132;ANN=T|missense_variant|MODERATE|CD244|CD244|transcript|NM_001166663.1|protein_coding|8/9|c.1027G>A|p.Glu343Lys|1252/2525|1027/1113|343/370||,T|missense_variant|MODERATE|CD244|CD244|transcript|NM_001166664.1|protein_coding|7/8|c.736G>A|p.Glu246Lys|961/2234|736/822|246/273||,T|missense_variant|MODERATE|CD244|CD244|transcript|NM_016382.3|protein_coding|8/9|c.1012G>A|p.Glu338Lys|1237/2510|1012/1098|338/365||,T|downstream_gene_variant|MODIFIER|LY9|LY9|transcript|NM_002348.3|protein_coding||c.*4708C>T|||||4269|,T|downstream_gene_variant|MODIFIER|LY9|LY9|transcript|NM_001261456.1|protein_coding||c.*4708C>T|||||4269|,T|downstream_gene_variant|MODIFIER|LY9|LY9|transcript|NM_001261457.1|protein_coding||c.*4708C>T|||||4269|;p3_1000G_AA=C|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19525;p3_1000G_EAS_AF=0.0188;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160802314;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:102,0,228
chr1	160834012	rs11265493	A	G	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.87;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.185;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.3;ReadPosRankSum=0.849;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11265493;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CD244|CD244|transcript|NM_001166663.1|protein_coding|7/8|c.975+39T>C||||||,G|intron_variant|MODIFIER|CD244|CD244|transcript|NM_001166664.1|protein_coding|6/7|c.684+39T>C||||||,G|intron_variant|MODIFIER|CD244|CD244|transcript|NM_016382.3|protein_coding|7/8|c.960+39T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2520;p3_1000G_AF=0.503195;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=20744;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160803802;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1650,2756;ESP6500_AA_AGE=505.7+/-366.2;ESP6500_AA_GTC=311,1028,864;ESP6500_CDS_SIZES=NM_016382.3:1098,NM_001166664.1:822,NM_001166663.1:1113;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=92;ESP6500_EA_AC=5261,3339;ESP6500_EA_AGE=643.5+/-399.9;ESP6500_EA_GTC=1582,2097,621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016382.3:intron,NM_001166664.1:intron,NM_001166663.1:intron;ESP6500_GL=CD244;ESP6500_GRCh38_POSITION=1:160834012;ESP6500_GTC=1893,3125,1485;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016382.3:c.960+39T>C,NM_001166664.1:c.684+39T>C,NM_001166663.1:c.975+39T>C;ESP6500_MAF=38.8256,37.4489,46.863;ESP6500_TAC=6911,6095	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,6:19:99:0|1:160834012_A_G:167,0,346
chr1	160841789	rs139452711	G	A	911.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.484;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=3.448;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.598;SOR=0.336;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139452711;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|CD244|CD244|transcript|NM_001166663.1|protein_coding|2/9|c.174C>T|p.Pro58Pro|399/2525|174/1113|58/370||,A|synonymous_variant|LOW|CD244|CD244|transcript|NM_001166664.1|protein_coding|2/8|c.174C>T|p.Pro58Pro|399/2234|174/822|58/273||,A|synonymous_variant|LOW|CD244|CD244|transcript|NM_016382.3|protein_coding|2/9|c.174C>T|p.Pro58Pro|399/2510|174/1098|58/365||;p3_1000G_AA=G|||;p3_1000G_AC=20;p3_1000G_AF=0.00399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=24745;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160811579;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,36:65:99:940,0,826
chr1	160879203	rs3766357	G	A	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.003;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.086;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.44;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766357;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|7/7|c.789+108C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2823;p3_1000G_AF=0.563698;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=20654;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160848993;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:321,0,207
chr1	160879240	rs3766358	T	A	500.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.432;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.832;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766358;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|7/7|c.789+71A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2898;p3_1000G_AF=0.578674;p3_1000G_AFR_AF=0.3154;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=20060;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160849030;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,23:37:99:529,0,326
chr1	160879270	rs3766359	G	A	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.293;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.449;SOR=0.769;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766359;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|7/7|c.789+41C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2821;p3_1000G_AF=0.563299;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=20004;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160849060;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1406,3000;ESP6500_AA_AGE=460.2+/-352.5;ESP6500_AA_GTC=225,956,1022;ESP6500_CDS_SIZES=NM_017625.2:942;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=88;ESP6500_EA_AC=5860,2740;ESP6500_EA_AGE=679.9+/-403.6;ESP6500_EA_GTC=2023,1814,463;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017625.2:intron;ESP6500_GL=ITLN1;ESP6500_GRCh38_POSITION=1:160879270;ESP6500_GTC=2248,2770,1485;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017625.2:c.789+41C>T;ESP6500_MAF=31.8605,31.911,44.1335;ESP6500_TAC=7266,5740	GT:AD:DP:GQ:PL	0/1:19,26:45:99:670,0,501
chr1	160879292	rs3820094	A	G	730.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.904;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.509;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-1.285;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820094;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|7/7|c.789+19T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3199;p3_1000G_AF=0.638778;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=20763;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160849082;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2204,2202;ESP6500_AA_AGE=589.1+/-387.1;ESP6500_AA_GTC=539,1126,538;ESP6500_CDS_SIZES=NM_017625.2:942;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=112;ESP6500_EA_AC=5910,2690;ESP6500_EA_AGE=432.0+/-357.0;ESP6500_EA_GTC=2050,1810,440;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017625.2:intron;ESP6500_GL=ITLN1;ESP6500_GRCh38_POSITION=1:160879292;ESP6500_GTC=2589,2936,978;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017625.2:c.789+19T>C;ESP6500_MAF=31.2791,49.9773,37.6134;ESP6500_TAC=8114,4892	GT:AD:DP:GQ:PL	0/1:20,27:47:99:759,0,513
chr1	160880490	rs4656957	G	A	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.354;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-1.175;SOR=2.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4656957;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|6/7|c.685+98C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3342;p3_1000G_AF=0.667332;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=20897;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160850280;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:192,0,268
chr1	160881146	rs2236515	T	C	950.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.376;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=1.22;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236515;dbSNPBuildID=98;ANN=C|splice_region_variant&intron_variant|LOW|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|5/7|c.564+8A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3367;p3_1000G_AF=0.672324;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=21859;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160850936;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2689,1717;ESP6500_AA_AGE=515.5+/-368.9;ESP6500_AA_GTC=804,1081,318;ESP6500_CDS_SIZES=NM_017625.2:942;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=107;ESP6500_EA_AC=5911,2689;ESP6500_EA_AGE=431.2+/-356.7;ESP6500_EA_GTC=2050,1811,439;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017625.2:intron;ESP6500_GL=ITLN1;ESP6500_GRCh38_POSITION=1:160881146;ESP6500_GTC=2854,2892,757;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017625.2:c.564+8A>G;ESP6500_MAF=31.2674,38.9696,33.8767;ESP6500_TAC=8600,4406	GT:AD:DP:GQ:PL	0/1:29,35:64:99:979,0,787
chr1	160882036	rs2274907	A	T	1661.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.057;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=2.89;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=-0.668;QD=17.31;ReadPosRankSum=-0.687;SOR=0.714;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274907;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|4/8|c.326T>A|p.Val109Asp|442/1182|326/942|109/313||;p3_1000G_AA=T|||;p3_1000G_AC=2911;p3_1000G_AF=0.58127;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=17183;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160851826;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1660,2746;ESP6500_AA_AGE=658.0+/-400.3;ESP6500_AA_GTC=308,1044,851;ESP6500_CDS_SIZES=NM_017625.2:942;ESP6500_CG=4.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=144;ESP6500_EA_AC=5864,2736;ESP6500_EA_AGE=437.0+/-358.5;ESP6500_EA_GTC=2024,1816,460;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017625.2:missense;ESP6500_GL=ITLN1;ESP6500_GRCh38_POSITION=1:160882036;ESP6500_GS=152;ESP6500_GTC=2332,2860,1311;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_017625.2:c.326T>A;ESP6500_HGVS_PROTEIN_VAR=NM_017625.2:p.(V109D);ESP6500_MAF=31.814,37.6759,42.1498;ESP6500_PH=benign:0.0;ESP6500_TAC=7524,5482	GT:AD:DP:GQ:PL	0/1:31,65:96:99:1690,0,656
chr1	160882104	rs2274908	G	A	1154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.887;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=4.651;MLEAC=1;MLEAF=0.5;MQ=59.86;MQRankSum=-0.781;QD=15.19;ReadPosRankSum=-0.816;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274908;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|4/8|c.258C>T|p.His86His|374/1182|258/942|86/313||;p3_1000G_AA=G|||;p3_1000G_AC=2894;p3_1000G_AF=0.577875;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=18194;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160851894;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1625,2781;ESP6500_AA_AGE=500.3+/-364.7;ESP6500_AA_GTC=297,1031,875;ESP6500_CDS_SIZES=NM_017625.2:942;ESP6500_CG=-7.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=93;ESP6500_EA_AC=5857,2743;ESP6500_EA_AGE=680.0+/-403.6;ESP6500_EA_GTC=2020,1817,463;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017625.2:coding-synonymous;ESP6500_GL=ITLN1;ESP6500_GRCh38_POSITION=1:160882104;ESP6500_GTC=2317,2848,1338;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017625.2:c.258C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017625.2:p.(H86);ESP6500_MAF=31.8953,36.8815,42.4727;ESP6500_TAC=7482,5524	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1183,0,669
chr1	160882232	rs2274909	C	T	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.502;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.531;SOR=0.862;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274909;dbSNPBuildID=100;ANN=T|sequence_feature|LOW|ITLN1|ITLN1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_017625.2|protein_coding|3/7|c.158-28G>A||||||,T|intron_variant|MODIFIER|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|3/7|c.158-28G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2842;p3_1000G_AF=0.567492;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=19894;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160852022;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1489,2917;ESP6500_AA_AGE=450.8+/-349.5;ESP6500_AA_GTC=248,993,962;ESP6500_CDS_SIZES=NM_017625.2:942;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=5856,2744;ESP6500_EA_AGE=646.5+/-400.3;ESP6500_EA_GTC=2026,1804,470;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017625.2:intron;ESP6500_GL=ITLN1;ESP6500_GRCh38_POSITION=1:160882232;ESP6500_GTC=2274,2797,1432;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017625.2:c.158-28G>A;ESP6500_MAF=31.907,33.7948,43.5261;ESP6500_TAC=7345,5661	GT:AD:DP:GQ:PL	0/1:17,21:38:99:509,0,436
chr1	160882256	rs2274910	T	C	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.637;SOR=0.628;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274910;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|ITLN1|ITLN1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_017625.2|protein_coding|3/7|c.158-52A>G||||||,C|intron_variant|MODIFIER|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|3/7|c.158-52A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2842;p3_1000G_AF=0.567492;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=19534;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160852046;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=903,1751;ESP6500_AA_GTC=149,605,573;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...18587394;ESP6500_CDS_SIZES=NM_017625.2:942;ESP6500_CG=2.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=21;ESP6500_EA_AC=3185,1433;ESP6500_EA_GTC=1134,917,258;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017625.2:intron;ESP6500_GL=ITLN1;ESP6500_GRCh38_POSITION=1:160882256;ESP6500_GTC=1283,1522,831;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...18587394;ESP6500_HGVS_CDNA_VAR=NM_017625.2:c.158-52A>G;ESP6500_MAF=31.0307,34.0241,43.7844;ESP6500_TAC=4088,3184	GT:AD:DP:GQ:PL	0/1:15,17:32:99:486,0,417
chr1	160884736	rs2297559	G	A	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.465;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.686;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.207;SOR=0.343;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297559;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ITLN1|ITLN1|transcript|NM_017625.2|protein_coding|2/7|c.58+84C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3354;p3_1000G_AF=0.669728;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=19935;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.6849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160854526;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,15:32:99:415,0,552
chr1	160948112	rs1556519	T	C	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.953;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.561;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1556519;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|LOC101928372|LOC101928372|transcript|NR_110695.1|pseudogene|5/5|n.865-539T>C||||||,C|intron_variant|MODIFIER|ITLN2|ITLN2|transcript|NM_080878.2|protein_coding|6/7|c.722-80A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1216;p3_1000G_AF=0.242812;p3_1000G_AFR_AF=0.0439;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=19720;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160917902;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:257,0,167
chr1	160951019	rs3829790	A	G	847.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=4.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.153;SOR=0.277;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3829790;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|LOC101928372|LOC101928372|transcript|NR_110695.1|pseudogene||n.*1097A>G|||||1097|,G|intron_variant|MODIFIER|ITLN2|ITLN2|transcript|NM_080878.2|protein_coding|4/7|c.441+24T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2406;p3_1000G_AF=0.480431;p3_1000G_AFR_AF=0.2383;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=20473;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.5736;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160920809;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1306,3100;ESP6500_AA_AGE=440.2+/-345.9;ESP6500_AA_GTC=182,942,1079;ESP6500_CDS_SIZES=NM_080878.2:978;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=156;ESP6500_EA_AC=4819,3781;ESP6500_EA_AGE=614.3+/-396.2;ESP6500_EA_GTC=1370,2079,851;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080878.2:intron;ESP6500_GL=ITLN2;ESP6500_GRCh38_POSITION=1:160951019;ESP6500_GTC=1552,3021,1930;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080878.2:c.441+24T>C;ESP6500_MAF=43.9651,29.6414,47.0936;ESP6500_TAC=6125,6881	GT:AD:DP:GQ:PGT:PID:PL	0/1:34,32:66:99:0|1:160951019_A_G:876,0,765
chr1	160951023	rs790059	A	G	2804.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=0.992;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs790059;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|LOC101928372|LOC101928372|transcript|NR_110695.1|pseudogene||n.*1101A>G|||||1101|,G|intron_variant|MODIFIER|ITLN2|ITLN2|transcript|NM_080878.2|protein_coding|4/7|c.441+20T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20115;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160920813;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4396,10;ESP6500_AA_AGE=15.5+/-35.6;ESP6500_AA_GTC=2193,10,0;ESP6500_CDS_SIZES=NM_080878.2:978;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=169;ESP6500_EA_AC=8550,50;ESP6500_EA_AGE=32.8+/-85.7;ESP6500_EA_GTC=4250,50,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080878.2:intron;ESP6500_GL=ITLN2;ESP6500_GRCh38_POSITION=1:160951023;ESP6500_GTC=6443,60,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080878.2:c.441+20T>C;ESP6500_MAF=0.5814,0.227,0.4613;ESP6500_TAC=12946,60	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,74:74:99:1|1:160951019_A_G:2833,222,0
chr1	160951176	rs6680969	C	T	1031.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.097;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=4.031;MLEAC=1;MLEAF=0.5;MQ=59.85;MQRankSum=-0.934;QD=11.46;ReadPosRankSum=-0.802;SOR=1.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6680969;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|ITLN2|ITLN2|transcript|NM_080878.2|protein_coding|4/8|c.308G>A|p.Arg103His|366/1150|308/978|103/325||,T|downstream_gene_variant|MODIFIER|LOC101928372|LOC101928372|transcript|NR_110695.1|pseudogene||n.*1254C>T|||||1254|;p3_1000G_AA=T|||;p3_1000G_AC=2445;p3_1000G_AF=0.488219;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=20197;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.5736;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160920966;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1568,2838;ESP6500_AA_AGE=489.9+/-361.6;ESP6500_AA_GTC=272,1024,907;ESP6500_CDS_SIZES=NM_080878.2:978;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=122;ESP6500_EA_AC=4816,3784;ESP6500_EA_AGE=614.0+/-396.2;ESP6500_EA_GTC=1370,2076,854;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080878.2:missense;ESP6500_GL=ITLN2;ESP6500_GRCh38_POSITION=1:160951176;ESP6500_GS=29;ESP6500_GTC=1642,3100,1761;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080878.2:c.308G>A;ESP6500_HGVS_PROTEIN_VAR=NM_080878.2:p.(R103H);ESP6500_MAF=44.0,35.5878,49.085;ESP6500_PH=benign:0.007;ESP6500_TAC=6384,6622	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1060,0,1083
chr1	160951440	rs4656971	T	G	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4656971;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|LOC101928372|LOC101928372|transcript|NR_110695.1|pseudogene||n.*1518T>G|||||1518|,G|intron_variant|MODIFIER|ITLN2|ITLN2|transcript|NM_080878.2|protein_coding|3/7|c.194-150A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2401;p3_1000G_AF=0.479433;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=24143;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160921230;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:147,0,134
chr1	160952770	rs777147426	A	T	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.038;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=0.15;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|downstream_gene_variant|MODIFIER|LOC101928372|LOC101928372|transcript|NR_110695.1|pseudogene||n.*2848A>T|||||2848|,T|intron_variant|MODIFIER|ITLN2|ITLN2|transcript|NM_080878.2|protein_coding|2/7|c.80-37T>A||||||	GT:AD:DP:GQ:PL	0/1:8,6:14:99:135,0,203
chr1	160954636	rs12401642	G	A	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.137;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.957;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12401642;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|LOC101928372|LOC101928372|transcript|NR_110695.1|pseudogene||n.*4714G>A|||||4714|,A|intron_variant|MODIFIER|ITLN2|ITLN2|transcript|NM_080878.2|protein_coding|1/7|c.15+91C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=620;p3_1000G_AF=0.123802;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=20445;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.0755;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160924426;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=77,1307;ESP6500_AA_GTC=1,75,616;ESP6500_CDS_SIZES=NM_080878.2:978;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=45;ESP6500_EA_AC=239,2943;ESP6500_EA_GTC=15,209,1367;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080878.2:intron;ESP6500_GL=ITLN2;ESP6500_GRCh38_POSITION=1:160954636;ESP6500_GTC=16,284,1983;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080878.2:c.15+91C>T;ESP6500_MAF=7.511,5.5636,6.9207;ESP6500_TAC=316,4250	GT:AD:DP:GQ:PL	0/1:19,23:42:99:620,0,459
chr1	160999218	rs3831190;rs397784617	T	TG	451.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.12;SOR=2.448;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3831190;dbSNPBuildID=107,138;ANN=TG|intron_variant|MODIFIER|F11R|F11R|transcript|NM_016946.4|protein_coding|8/9|c.816-128dupC||||||;p3_1000G_AA=GGGGG|GGGG|GGGGG|deletion;p3_1000G_AC=4154;p3_1000G_AF=0.829473;p3_1000G_AFR_AF=0.9183;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=20407;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160969008;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:489,45,0
chr1	160999795	rs790056	C	T	3305.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=107;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=1.322;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs790056;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|F11R|F11R|transcript|NM_016946.4|protein_coding|6/9|c.695-48G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4212;p3_1000G_AF=0.841054;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=19432;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160969585;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4006,400;ESP6500_AA_AGE=196.4+/-220.7;ESP6500_AA_GTC=1821,364,18;ESP6500_CDS_SIZES=NM_016946.4:900;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=52;ESP6500_EA_AC=6800,1800;ESP6500_EA_AGE=326.7+/-317.5;ESP6500_EA_GTC=2694,1412,194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016946.4:intron;ESP6500_GL=F11R;ESP6500_GRCh38_POSITION=1:160999795;ESP6500_GTC=4515,1776,212;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016946.4:c.695-48G>A;ESP6500_MAF=20.9302,9.0785,16.9153;ESP6500_TAC=10806,2200	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3334,320,0
chr1	161001356	rs790055	A	G	2180.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.55;SOR=0.787;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs790055;dbSNPBuildID=86;ANN=G|splice_region_variant&intron_variant|LOW|F11R|F11R|transcript|NM_016946.4|protein_coding|1/9|c.65-3T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4156;p3_1000G_AF=0.829872;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=19811;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160971146;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3904,502;ESP6500_AA_AGE=230.1+/-244.4;ESP6500_AA_GTC=1731,442,30;ESP6500_CDS_SIZES=NM_016946.4:900;ESP6500_CG=3.2;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=54;ESP6500_EA_AC=6792,1808;ESP6500_EA_AGE=327.7+/-318.0;ESP6500_EA_GTC=2687,1418,195;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016946.4:intron;ESP6500_GL=F11R;ESP6500_GRCh38_POSITION=1:161001356;ESP6500_GTC=4418,1860,225;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016946.4:c.65-3T>C;ESP6500_MAF=21.0233,11.3936,17.761;ESP6500_TAC=10696,2310	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2209,195,0
chr1	161021085	rs28365980;rs78350026	T	C	2761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=2.157;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28365980;dbSNPBuildID=125;ANN=C|5_prime_UTR_variant|MODIFIER|F11R|F11R|transcript|NM_016946.4|protein_coding|1/10|c.-12A>G|||||12|;p3_1000G_AA=T|||;p3_1000G_AC=3135;p3_1000G_AF=0.625998;p3_1000G_AFR_AF=0.7678;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=13624;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160990875;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=781,3625;ESP6500_AA_GTC=291,199,1713;ESP6500_CDS_SIZES=NM_016946.4:900;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=64;ESP6500_EA_AC=852,7748;ESP6500_EA_GTC=303,246,3751;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016946.4:utr-5;ESP6500_GL=F11R;ESP6500_GRCh38_POSITION=1:161021085;ESP6500_GTC=594,445,5464;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016946.4:c.-12A>G;ESP6500_MAF=9.907,17.7258,12.5557;ESP6500_TAC=1633,11373	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,62:62:99:1|1:161021085_T_C:2790,187,0
chr1	161021086	rs28365979	C	A	2761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.01;SOR=2.157;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28365979;dbSNPBuildID=131;ANN=A|5_prime_UTR_variant|MODIFIER|F11R|F11R|transcript|NM_016946.4|protein_coding|1/10|c.-13G>T|||||13|;p3_1000G_AA=C|||;p3_1000G_AC=3131;p3_1000G_AF=0.6252;p3_1000G_AFR_AF=0.767;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=12908;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.498;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160990876;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=277,4129;ESP6500_AA_GTC=76,125,2002;ESP6500_CDS_SIZES=NM_016946.4:900;ESP6500_CG=1.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=63;ESP6500_EA_AC=319,8281;ESP6500_EA_GTC=90,139,4071;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016946.4:utr-5;ESP6500_GL=F11R;ESP6500_GRCh38_POSITION=1:161021086;ESP6500_GTC=166,264,6073;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_016946.4:c.-13G>T;ESP6500_MAF=3.7093,6.2869,4.5825;ESP6500_TAC=596,12410	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,62:62:99:1|1:161021085_T_C:2790,187,0
chr1	161021088	rs28365978	C	T	2761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=2.119;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28365978;dbSNPBuildID=125;ANN=T|5_prime_UTR_variant|MODIFIER|F11R|F11R|transcript|NM_016946.4|protein_coding|1/10|c.-15G>A|||||15|;p3_1000G_AA=C|||;p3_1000G_AC=3131;p3_1000G_AF=0.6252;p3_1000G_AFR_AF=0.767;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=13207;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.498;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160990878;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2027,2379;ESP6500_AA_GTC=951,125,1127;ESP6500_CDS_SIZES=NM_016946.4:900;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=60;ESP6500_EA_AC=2092,6508;ESP6500_EA_GTC=951,190,3159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016946.4:utr-5;ESP6500_GL=F11R;ESP6500_GRCh38_POSITION=1:161021088;ESP6500_GTC=1902,315,4286;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016946.4:c.-15G>A;ESP6500_MAF=24.3256,46.0054,31.67;ESP6500_TAC=4119,8887	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,61:61:99:1|1:161021085_T_C:2790,187,0
chr1	161038672	rs374350196	C	T	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.561;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.463;SOR=0.724;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374350196;dbSNPBuildID=138;ANN=T|splice_region_variant&synonymous_variant|LOW|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding|2/4|c.12G>A|p.Ala4Ala|107/586|12/348|4/115||,T|splice_region_variant&synonymous_variant|LOW|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding|2/3|c.12G>A|p.Ala4Ala|107/672|12/330|4/109||,T|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding||c.*1248G>A|||||579|,T|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding||c.*1248G>A|||||579|,T|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding||c.*1248G>A|||||579|,T|intron_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding|1/2|c.10+208G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14117;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161008462;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,15:36:99:384,0,542
chr1	161038782	rs3766383	C	A	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.046;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.183;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766383;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding||c.*1138G>T|||||469|,A|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding||c.*1138G>T|||||469|,A|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding||c.*1138G>T|||||469|,A|intron_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding|1/3|c.10+98G>T||||||,A|intron_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding|1/2|c.10+98G>T||||||,A|intron_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding|1/2|c.10+98G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1928;p3_1000G_AF=0.384984;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=13272;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161008572;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:213,0,287
chr1	161039013	rs3766382	G	T	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.842;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766382;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding||c.-124C>A|||||29|,T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding||c.-124C>A|||||29|,T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding||c.-124C>A|||||29|,T|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding||c.*907C>A|||||238|,T|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding||c.*907C>A|||||238|,T|downstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding||c.*907C>A|||||238|,T|intergenic_region|MODIFIER|TSTD1-USF1|TSTD1-USF1|intergenic_region|TSTD1-USF1|||n.161039013G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1925;p3_1000G_AF=0.384385;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=12028;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161008803;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:127,0,148
chr1	161040984	rs2516841	A	G	659.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2516841;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding||c.-2095T>C|||||2000|,G|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding||c.-2095T>C|||||2000|,G|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding||c.-2095T>C|||||2000|,G|intron_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding|7/10|c.561-112T>C||||||,G|intron_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding|7/10|c.561-112T>C||||||,G|intron_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding|7/10|c.384-112T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3913;p3_1000G_AF=0.78135;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=18706;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161010774;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:688,54,0
chr1	161041001	rs2073657	C	T	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.42;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-1.471;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2073657;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding||c.-2112G>A|||||2017|,T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding||c.-2112G>A|||||2017|,T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding||c.-2112G>A|||||2017|,T|intron_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding|7/10|c.561-129G>A||||||,T|intron_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding|7/10|c.561-129G>A||||||,T|intron_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding|7/10|c.384-129G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1822;p3_1000G_AF=0.363818;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=18414;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161010791;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:250,0,101
chr1	161041527	rs2516840	A	G	895.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2516840;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding||c.-2638T>C|||||2543|,G|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding||c.-2638T>C|||||2543|,G|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding||c.-2638T>C|||||2543|,G|intron_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding|6/10|c.473-116T>C||||||,G|intron_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding|6/10|c.473-116T>C||||||,G|intron_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding|6/10|c.296-116T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3886;p3_1000G_AF=0.775958;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=18781;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.7306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161011317;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:924,81,0
chr1	161041926	rs2774276	G	C	1222.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.94;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2774276;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding||c.-3037C>G|||||2942|,C|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding||c.-3037C>G|||||2942|,C|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding||c.-3037C>G|||||2942|,C|intron_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding|5/10|c.277-80C>G||||||,C|intron_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding|5/10|c.277-80C>G||||||,C|intron_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding|5/10|c.100-80C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3914;p3_1000G_AF=0.78155;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=20579;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161011716;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1251,105,0
chr1	161042970	rs2073653	T	C	481.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.178;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.474;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2073653;dbSNPBuildID=96;ANN=C|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding||c.-4081A>G|||||3986|,C|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding||c.-4081A>G|||||3986|,C|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding||c.-4081A>G|||||3986|,C|downstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding||c.*4745A>G|||||3972|,C|downstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding||c.*4745A>G|||||3972|,C|downstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding||c.*4745A>G|||||3972|,C|downstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding||c.*4745A>G|||||3972|,C|intron_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding|2/10|c.9-88A>G||||||,C|intron_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding|2/10|c.9-88A>G||||||,C|intron_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding|2/10|c.-138-88A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1927;p3_1000G_AF=0.384784;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=23456;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161012760;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,17:30:99:510,0,437
chr1	161043331	rs2516839	C	T	862.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.813;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=3.889;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.14;SOR=1.398;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2516839;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding|2/11|c.-56G>A|||||56|,T|5_prime_UTR_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding|2/11|c.-56G>A|||||56|,T|5_prime_UTR_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding|2/11|c.-202G>A|||||1117|,T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113207.1|protein_coding||c.-4442G>A|||||4347|,T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113205.1|protein_coding||c.-4442G>A|||||4347|,T|upstream_gene_variant|MODIFIER|TSTD1|TSTD1|transcript|NM_001113206.1|protein_coding||c.-4442G>A|||||4347|,T|downstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding||c.*4384G>A|||||3611|,T|downstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding||c.*4384G>A|||||3611|,T|downstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding||c.*4384G>A|||||3611|,T|downstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding||c.*4384G>A|||||3611|;p3_1000G_AA=C|||;p3_1000G_AC=1987;p3_1000G_AF=0.396765;p3_1000G_AFR_AF=0.1846;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=20760;p3_1000G_EAS_AF=0.3333;p3_1000G_EUR_AF=0.6292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161013121;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=371,1013;ESP6500_AA_GTC=54,263,375;ESP6500_CDS_SIZES=NM_207005.1:756,NM_007122.3:933;ESP6500_CG=3.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=1948,1234;ESP6500_EA_GTC=591,766,234;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207005.1:utr-5,NM_007122.3:utr-5;ESP6500_GL=USF1;ESP6500_GRCh38_POSITION=1:161043331;ESP6500_GTC=645,1029,609;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207005.1:c.-1117G>A,NM_007122.3:c.-56G>A;ESP6500_MAF=38.7806,26.8064,49.2116;ESP6500_TAC=2319,2247	GT:AD:DP:GQ:PL	0/1:25,33:58:99:891,0,674
chr1	161047766	rs2774279	C	T	598.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.617;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=1.12;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2774279;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding|12/12|c.3255G>A|p.Arg1085Arg|3601/4425|3255/3306|1085/1101||,T|synonymous_variant|LOW|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding|11/11|c.2811G>A|p.Arg937Arg|3456/4280|2811/2862|937/953||,T|synonymous_variant|LOW|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding|8/8|c.2724G>A|p.Arg908Arg|3070/3894|2724/2775|908/924||,T|synonymous_variant|LOW|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding|13/13|c.2622G>A|p.Arg874Arg|2968/3792|2622/2673|874/890||,T|upstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding||c.-4491G>A|||||2829|,T|upstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding||c.-4491G>A|||||1787|,T|upstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding||c.-5552G>A|||||1787|;p3_1000G_AA=C|||;p3_1000G_AC=1093;p3_1000G_AF=0.218251;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=20077;p3_1000G_EAS_AF=0.1389;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161017556;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=846,3560;ESP6500_AA_AGE=333.3+/-302.9;ESP6500_AA_GTC=80,686,1437;ESP6500_CDS_SIZES=NM_181720.2:2673,NM_001025598.1:3306;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=87;ESP6500_EA_AC=2856,5744;ESP6500_EA_AGE=448.2+/-361.8;ESP6500_EA_GTC=460,1936,1904;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181720.2:coding-synonymous,NM_001025598.1:coding-synonymous;ESP6500_GL=ARHGAP30;ESP6500_GRCh38_POSITION=1:161047766;ESP6500_GTC=540,2622,3341;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181720.2:c.2622G>A,NM_001025598.1:c.3255G>A;ESP6500_HGVS_PROTEIN_VAR=NM_181720.2:p.(R874),NM_001025598.1:p.(R1085);ESP6500_MAF=33.2093,19.2011,28.4638;ESP6500_TAC=3702,9304	GT:AD:DP:GQ:PL	0/1:34,26:60:99:627,0,935
chr1	161049250	rs3813609	G	C	1307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.077;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=0.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.645;SOR=0.71;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813609;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding|12/12|c.1771C>G|p.Leu591Val|2117/4425|1771/3306|591/1101||,C|missense_variant|MODERATE|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding|11/11|c.1327C>G|p.Leu443Val|1972/4280|1327/2862|443/953||,C|missense_variant|MODERATE|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding|8/8|c.1240C>G|p.Leu414Val|1586/3894|1240/2775|414/924||,C|missense_variant|MODERATE|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding|12/13|c.1771C>G|p.Leu591Val|2117/3792|1771/2673|591/890||,C|upstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_001276373.1|protein_coding||c.-5975C>G|||||4313|,C|upstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_007122.4|protein_coding||c.-5975C>G|||||3271|,C|upstream_gene_variant|MODIFIER|USF1|USF1|transcript|NM_207005.2|protein_coding||c.-7036C>G|||||3271|;p3_1000G_AA=G|||;p3_1000G_AC=1983;p3_1000G_AF=0.395966;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=21362;p3_1000G_EAS_AF=0.3333;p3_1000G_EUR_AF=0.6292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161019040;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1158,3248;ESP6500_AA_AGE=410.6+/-335.4;ESP6500_AA_GTC=145,868,1190;ESP6500_CDS_SIZES=NM_181720.2:2673,NM_001025598.1:3306;ESP6500_CG=1.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=99;ESP6500_EA_AC=5222,3378;ESP6500_EA_AGE=640.6+/-399.6;ESP6500_EA_GTC=1560,2102,638;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181720.2:missense,NM_001025598.1:missense;ESP6500_GL=ARHGAP30;ESP6500_GRCh38_POSITION=1:161049250;ESP6500_GS=32,32;ESP6500_GTC=1705,2970,1828;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_181720.2:c.1771C>G,NM_001025598.1:c.1771C>G;ESP6500_HGVS_PROTEIN_VAR=NM_181720.2:p.(L591V),NM_001025598.1:p.(L591V);ESP6500_MAF=39.2791,26.2823,49.0543;ESP6500_PH=possibly-damaging:0.763,possibly-damaging:0.763;ESP6500_TAC=6380,6626	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1336,0,1629
chr1	161052590	rs4396136	G	A	2004.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=0.723;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4396136;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding|7/11|c.836+36C>T||||||,A|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding|6/10|c.392+36C>T||||||,A|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding|3/7|c.305+36C>T||||||,A|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding|7/12|c.836+36C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3921;p3_1000G_AF=0.782947;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=20152;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.7913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161022380;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3888,518;ESP6500_AA_AGE=235.8+/-248.2;ESP6500_AA_GTC=1711,466,26;ESP6500_CDS_SIZES=NM_181720.2:2673,NM_001025598.1:3306;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=96;ESP6500_EA_AC=6675,1925;ESP6500_EA_AGE=342.3+/-324.4;ESP6500_EA_GTC=2577,1521,202;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181720.2:intron,NM_001025598.1:intron;ESP6500_GL=ARHGAP30;ESP6500_GRCh38_POSITION=1:161052590;ESP6500_GTC=4288,1987,228;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181720.2:c.836+36C>T,NM_001025598.1:c.836+36C>T;ESP6500_MAF=22.3837,11.7567,18.7836;ESP6500_TAC=10563,2443	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2033,195,0
chr1	161052694	rs754838935	T	C	634.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.29;SOR=0.965;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|missense_variant|MODERATE|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding|7/12|c.768A>G|p.Ile256Met|1114/4425|768/3306|256/1101||,C|missense_variant|MODERATE|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding|6/11|c.324A>G|p.Ile108Met|969/4280|324/2862|108/953||,C|missense_variant|MODERATE|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding|3/8|c.237A>G|p.Ile79Met|583/3894|237/2775|79/924||,C|missense_variant|MODERATE|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding|7/13|c.768A>G|p.Ile256Met|1114/3792|768/2673|256/890||	GT:AD:DP:GQ:PL	0/1:26,25:51:99:663,0,628
chr1	161052849	rs3813610	C	G	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.484;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.016;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813610;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding|6/11|c.665-52G>C||||||,G|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding|5/10|c.221-52G>C||||||,G|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding|2/7|c.134-52G>C||||||,G|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding|6/12|c.665-52G>C||||||;ESP6500_AA=C;ESP6500_AA_AC=715,1939;ESP6500_AA_GTC=104,507,716;ESP6500_CDS_SIZES=NM_181720.2:2673,NM_001025598.1:3306;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=17;ESP6500_EA_AC=2843,1775;ESP6500_EA_GTC=874,1095,340;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181720.2:intron,NM_001025598.1:intron;ESP6500_GL=ARHGAP30;ESP6500_GRCh38_POSITION=1:161052849;ESP6500_GTC=978,1602,1056;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_181720.2:c.665-52G>C,NM_001025598.1:c.665-52G>C;ESP6500_MAF=38.4366,26.9405,48.9274;ESP6500_TAC=3558,3714	GT:AD:DP:GQ:PL	0/1:6,4:10:99:133,0,188
chr1	161053489	rs770266678	TC	T	133.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=1.06;SOR=1.302;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding|5/11|c.537-105delG||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding|4/10|c.93-105delG||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding|1/7|c.6-105delG||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding|5/12|c.537-105delG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,5:17:99:0|1:161053489_TC_T:171,0,509
chr1	161053491	rs771820093	TCTCTCTCTCTCTCTC	T	130.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.888;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0.949;SOR=1.609;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding|5/11|c.537-121_537-107delGAGAGAGAGAGAGAG||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding|4/10|c.93-121_93-107delGAGAGAGAGAGAGAG||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding|1/7|c.6-121_6-107delGAGAGAGAGAGAGAG||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding|5/12|c.537-121_537-107delGAGAGAGAGAGAGAG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,5:19:99:0|1:161053489_TC_T:168,0,543
chr1	161056289	rs7516231	A	T	129.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.469;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.998;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7516231;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding|3/11|c.345+99T>A||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding|2/10|c.-99-1584T>A||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding|1/7|c.6-2904T>A||||||,T|intron_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding|3/12|c.345+99T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1625;p3_1000G_AF=0.324481;p3_1000G_AFR_AF=0.587;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=16013;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161026079;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:158,0,173
chr1	161073945	rs4656285	A	C	1017.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.93;SOR=2.621;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656285;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001025598.1|protein_coding||c.-4321T>G|||||3975|,C|upstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287600.1|protein_coding||c.-19488T>G|||||3975|,C|upstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_001287602.1|protein_coding||c.-4321T>G|||||3975|,C|upstream_gene_variant|MODIFIER|ARHGAP30|ARHGAP30|transcript|NM_181720.2|protein_coding||c.-4321T>G|||||3975|,C|intron_variant|MODIFIER|NECTIN4|NECTIN4|transcript|NM_030916.2|protein_coding|6/8|c.1158-150T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3677;p3_1000G_AF=0.734225;p3_1000G_AFR_AF=0.7572;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=20355;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161043735;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1046,90,0
chr1	161077335	rs397823657;rs60601836	CTATA	C	457.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=4.977;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60601836;dbSNPBuildID=135,138;ANN=C|intron_variant|MODIFIER|NECTIN4|NECTIN4|transcript|NM_030916.2|protein_coding|3/8|c.730+114_730+117delTATA||||||;p3_1000G_AC=3894;p3_1000G_AF=0.777556;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=18356;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.7773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161047125;p3_1000G_GRCH37_REF=CTATA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7669;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:495,33,0
chr1	161079568	rs3820097	G	A	594.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820097;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|NECTIN4|NECTIN4|transcript|NM_030916.2|protein_coding|2/8|c.439+22C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4310;p3_1000G_AF=0.860623;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=14539;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.9105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161049358;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3817,113;ESP6500_AA_GTC=1854,109,2;ESP6500_CDS_SIZES=NM_030916.2:1533;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=9;ESP6500_EA_AC=7270,754;ESP6500_EA_GTC=3293,684,35;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030916.2:intron;ESP6500_GL=PVRL4;ESP6500_GRCh38_POSITION=1:161079568;ESP6500_GTC=5147,793,37;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_030916.2:c.439+22C>T;ESP6500_MAF=9.3968,2.8753,7.2528;ESP6500_TAC=11087,867	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:60:1|1:161079568_G_A:623,60,0
chr1	161099754	rs1128750	G	A	536.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.814;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.21;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1128750;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|KLHDC9|KLHDC9|transcript|NM_152366.4|protein_coding|3/4|c.844G>A|p.Ala282Thr|989/1319|844/1050|282/349||,A|missense_variant|MODERATE|KLHDC9|KLHDC9|transcript|NM_001007255.2|protein_coding|3/4|c.863G>A|p.Ser288Asn|1008/1338|863/867|288/288||,A|downstream_gene_variant|MODIFIER|PFDN2|PFDN2|transcript|NM_012394.3|protein_coding||c.*929C>T|||||802|,A|non_coding_transcript_exon_variant|MODIFIER|KLHDC9|KLHDC9|transcript|NR_033385.1|pseudogene|4/5|n.758G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|KLHDC9|KLHDC9|transcript|NR_033386.1|pseudogene|4/5|n.777G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=195;p3_1000G_AF=0.0389377;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=19078;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0.0467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161069544;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=49,4357;ESP6500_AA_AGE=50.2+/-85.5;ESP6500_AA_GTC=0,49,2154;ESP6500_CDS_SIZES=NM_152366.4:1050,NM_001007255.2:867;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=103;ESP6500_EA_AC=458,8142;ESP6500_EA_AGE=136.4+/-193.5;ESP6500_EA_GTC=16,426,3858;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152366.4:missense,NM_001007255.2:missense;ESP6500_GL=KLHDC9;ESP6500_GRCh38_POSITION=1:161099754;ESP6500_GS=58,46;ESP6500_GTC=16,475,6012;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152366.4:c.844G>A,NM_001007255.2:c.863G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152366.4:p.(A282T),NM_001007255.2:p.(S288N);ESP6500_MAF=5.3256,1.1121,3.8982;ESP6500_PH=benign:0.003,benign:0.003;ESP6500_TAC=507,12499	GT:AD:DP:GQ:PL	0/1:28,23:51:99:565,0,793
chr1	161118108	rs776914738	C	G	1667.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=132;ExcessHet=3.0103;FS=1.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.955;SOR=0.543;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|NIT1|NIT1|transcript|NM_005600.2|protein_coding|1/7|c.-69C>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|NIT1|NIT1|transcript|NM_001185092.1|protein_coding|1/7|c.-69C>G||||||,G|5_prime_UTR_variant|MODIFIER|NIT1|NIT1|transcript|NM_005600.2|protein_coding|1/7|c.-69C>G|||||69|,G|5_prime_UTR_variant|MODIFIER|NIT1|NIT1|transcript|NM_001185092.1|protein_coding|1/7|c.-69C>G|||||69|,G|upstream_gene_variant|MODIFIER|PFDN2|PFDN2|transcript|NM_012394.3|protein_coding||c.-82G>C|||||32|,G|upstream_gene_variant|MODIFIER|NIT1|NIT1|transcript|NM_001185093.1|protein_coding||c.-391C>G|||||9|,G|upstream_gene_variant|MODIFIER|NIT1|NIT1|transcript|NM_001185094.1|protein_coding||c.-1036C>G|||||10|,G|downstream_gene_variant|MODIFIER|DEDD|DEDD|transcript|NM_001039711.1|protein_coding||c.*4039G>C|||||2870|,G|downstream_gene_variant|MODIFIER|DEDD|DEDD|transcript|NM_001039712.1|protein_coding||c.*4039G>C|||||2870|,G|downstream_gene_variant|MODIFIER|DEDD|DEDD|transcript|NM_032998.2|protein_coding||c.*4039G>C|||||2870|	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1696,0,1744
chr1	161120695	rs780298602	G	A	633.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.301;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.06;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|NIT1|NIT1|transcript|NM_005600.2|protein_coding|7/7|c.914G>A|p.Arg305His|1019/1518|914/984|305/327||,A|missense_variant|MODERATE|NIT1|NIT1|transcript|NM_001185093.1|protein_coding|6/6|c.869G>A|p.Arg290His|1251/1750|869/939|290/312||,A|missense_variant|MODERATE|NIT1|NIT1|transcript|NM_001185094.1|protein_coding|7/7|c.806G>A|p.Arg269His|1020/1519|806/876|269/291||,A|upstream_gene_variant|MODIFIER|PFDN2|PFDN2|transcript|NM_012394.3|protein_coding||c.-2669C>T|||||2619|,A|downstream_gene_variant|MODIFIER|DEDD|DEDD|transcript|NM_001039711.1|protein_coding||c.*1452C>T|||||283|,A|downstream_gene_variant|MODIFIER|DEDD|DEDD|transcript|NM_001039712.1|protein_coding||c.*1452C>T|||||283|,A|downstream_gene_variant|MODIFIER|DEDD|DEDD|transcript|NM_032998.2|protein_coding||c.*1452C>T|||||283|,A|intron_variant|MODIFIER|NIT1|NIT1|transcript|NM_001185092.1|protein_coding|6/6|c.717+463G>A||||||	GT:AD:DP:GQ:PL	0/1:29,28:57:99:662,0,756
chr1	161157185	rs12031437	C	G	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.814;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.93;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-0.689;SOR=1.355;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12031437;dbSNPBuildID=120;ANN=G|sequence_feature|LOW|UFC1|UFC1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_016406.3|protein_coding|2/5|c.192-69C>G||||||,G|upstream_gene_variant|MODIFIER|USP21|USP21|transcript|NM_001319847.1|protein_coding||c.-2516C>G|||||2279|,G|upstream_gene_variant|MODIFIER|USP21|USP21|transcript|NM_001014443.2|protein_coding||c.-3456C>G|||||2279|,G|upstream_gene_variant|MODIFIER|USP21|USP21|transcript|NM_001319848.1|protein_coding||c.-3456C>G|||||2279|,G|upstream_gene_variant|MODIFIER|USP21|USP21|transcript|NM_012475.4|protein_coding||c.-3456C>G|||||2279|,G|intron_variant|MODIFIER|UFC1|UFC1|transcript|NM_016406.3|protein_coding|2/5|c.192-69C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1776;p3_1000G_AF=0.354633;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=20177;p3_1000G_EAS_AF=0.4494;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161126975;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=362,1022;ESP6500_AA_GTC=54,254,384;ESP6500_CDS_SIZES=NM_016406.3:504;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=195;ESP6500_EA_AC=1231,1951;ESP6500_EA_GTC=223,785,583;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016406.3:intron;ESP6500_GL=UFC1;ESP6500_GRCh38_POSITION=1:161157185;ESP6500_GTC=277,1039,967;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_016406.3:c.192-69C>G;ESP6500_MAF=38.6864,26.1561,34.8883;ESP6500_TAC=1593,2973	GT:AD:DP:GQ:PL	0/1:41,20:61:99:548,0,1264
chr1	161161099	rs149047051	T	C	999.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=3.73;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.027;SOR=1.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149047051;dbSNPBuildID=134;ANN=C|synonymous_variant|LOW|USP21|USP21|transcript|NM_001319847.1|protein_coding|2/13|c.546T>C|p.Arg182Arg|783/2301|546/1785|182/594||,C|synonymous_variant|LOW|USP21|USP21|transcript|NM_001014443.2|protein_coding|3/14|c.459T>C|p.Arg153Arg|836/2354|459/1698|153/565||,C|synonymous_variant|LOW|USP21|USP21|transcript|NM_001319848.1|protein_coding|2/13|c.459T>C|p.Arg153Arg|695/2171|459/1656|153/551||,C|synonymous_variant|LOW|USP21|USP21|transcript|NM_012475.4|protein_coding|2/13|c.459T>C|p.Arg153Arg|695/2213|459/1698|153/565||,C|downstream_gene_variant|MODIFIER|UFC1|UFC1|transcript|NM_016406.3|protein_coding||c.*2607T>C|||||2243|;p3_1000G_AA=T|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17757;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161130889;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:60,41:101:99:1028,0,1503
chr1	161167053	rs2301287	C	G	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.267;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.05;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2301287;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|USP21|USP21|transcript|NM_001319847.1|protein_coding||c.*1606C>G|||||1327|,G|downstream_gene_variant|MODIFIER|B4GALT3|B4GALT3|transcript|NM_001199873.1|protein_coding||c.*4763G>C|||||4257|,G|downstream_gene_variant|MODIFIER|USP21|USP21|transcript|NM_001014443.2|protein_coding||c.*1606C>G|||||1327|,G|downstream_gene_variant|MODIFIER|USP21|USP21|transcript|NM_001319848.1|protein_coding||c.*1606C>G|||||1327|,G|downstream_gene_variant|MODIFIER|USP21|USP21|transcript|NM_012475.4|protein_coding||c.*1606C>G|||||1327|,G|downstream_gene_variant|MODIFIER|B4GALT3|B4GALT3|transcript|NM_001199874.1|protein_coding||c.*4763G>C|||||4257|,G|downstream_gene_variant|MODIFIER|B4GALT3|B4GALT3|transcript|NM_003779.3|protein_coding||c.*4763G>C|||||4257|,G|intron_variant|MODIFIER|PPOX|PPOX|transcript|NM_000309.3|protein_coding|2/12|c.88-47C>G||||||,G|intron_variant|MODIFIER|PPOX|PPOX|transcript|NM_001122764.1|protein_coding|2/12|c.88-47C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1770;p3_1000G_AF=0.353435;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=17190;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161136843;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1199,3207;ESP6500_AA_AGE=395.8+/-329.8;ESP6500_AA_GTC=155,889,1159;ESP6500_CDS_SIZES=NM_001122764.1:1434,NM_000309.3:1434;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=3247,5353;ESP6500_EA_AGE=462.6+/-365.7;ESP6500_EA_GTC=618,2011,1671;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001122764.1:intron,NM_000309.3:intron;ESP6500_GL=PPOX;ESP6500_GRCh38_POSITION=1:161167053;ESP6500_GTC=773,2900,2830;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001122764.1:c.88-47C>G,NM_000309.3:c.88-47C>G;ESP6500_MAF=37.7558,27.2129,34.1842;ESP6500_TAC=4446,8560	GT:AD:DP:GQ:PL	0/1:4,12:16:99:429,0,122
chr1	161173522	rs11579514	T	C	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.453;SOR=1.296;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11579514;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|PPOX|PPOX|transcript|NM_000309.3|protein_coding||c.*2346T>C|||||2302|,C|downstream_gene_variant|MODIFIER|PPOX|PPOX|transcript|NM_001122764.1|protein_coding||c.*2346T>C|||||2302|,C|intron_variant|MODIFIER|B4GALT3|B4GALT3|transcript|NM_001199873.1|protein_coding|6/7|c.803+83A>G||||||,C|intron_variant|MODIFIER|B4GALT3|B4GALT3|transcript|NM_001199874.1|protein_coding|6/7|c.803+83A>G||||||,C|intron_variant|MODIFIER|B4GALT3|B4GALT3|transcript|NM_003779.3|protein_coding|6/7|c.803+83A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1271;p3_1000G_AF=0.253794;p3_1000G_AFR_AF=0.1097;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=21357;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.3201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161143312;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:409,0,293
chr1	161191082	rs34884997	T	C	854.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.92;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.047;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.347;SOR=0.985;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34884997;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|ADAMTS4|ADAMTS4|transcript|NM_001320336.1|protein_coding|9/9|c.2409A>G|p.Arg803Arg|2835/4188|2409/2541|803/846||,C|3_prime_UTR_variant|MODIFIER|ADAMTS4|ADAMTS4|transcript|NM_005099.5|protein_coding|9/9|c.*56A>G|||||56|;p3_1000G_AA=T|||;p3_1000G_AC=825;p3_1000G_AF=0.164736;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=17699;p3_1000G_EAS_AF=0.3621;p3_1000G_EUR_AF=0.1551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161160872;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,29:67:99:883,0,1042
chr1	161193247	rs4233367	T	C	1243.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4233367;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|ADAMTS4|ADAMTS4|transcript|NM_001320336.1|protein_coding|7/9|c.1877A>G|p.Gln626Arg|2303/4188|1877/2541|626/846||,C|missense_variant|MODERATE|ADAMTS4|ADAMTS4|transcript|NM_005099.5|protein_coding|7/9|c.1877A>G|p.Gln626Arg|2303/4349|1877/2514|626/837||;p3_1000G_AA=C|||;p3_1000G_AC=3540;p3_1000G_AF=0.706869;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=16806;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.6093;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161163037;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2678,1728;ESP6500_AA_AGE=515.0+/-368.8;ESP6500_AA_GTC=802,1074,327;ESP6500_CDS_SIZES=NM_005099.4:2514;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=37;ESP6500_EA_AC=5162,3438;ESP6500_EA_AGE=500.0+/-375.1;ESP6500_EA_GTC=1528,2106,666;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005099.4:missense;ESP6500_GL=ADAMTS4;ESP6500_GRCh38_POSITION=1:161193247;ESP6500_GS=43;ESP6500_GTC=2330,3180,993;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005099.4:c.1877A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005099.4:p.(Q626R);ESP6500_MAF=39.9767,39.2192,39.7201;ESP6500_PH=benign:0.0;ESP6500_TAC=7840,5166	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1272,114,0
chr1	161193843	rs3813622	C	T	1869.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=0.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3813622;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ADAMTS4|ADAMTS4|transcript|NM_001320336.1|protein_coding|5/8|c.1549-17G>A||||||,T|intron_variant|MODIFIER|ADAMTS4|ADAMTS4|transcript|NM_005099.5|protein_coding|5/8|c.1549-17G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3518;p3_1000G_AF=0.702476;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=16054;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.5875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161163633;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2627,1779;ESP6500_AA_AGE=520.2+/-370.2;ESP6500_AA_GTC=769,1089,345;ESP6500_CDS_SIZES=NM_005099.4:2514;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=42;ESP6500_EA_AC=5011,3589;ESP6500_EA_AGE=516.0+/-378.7;ESP6500_EA_GTC=1439,2133,728;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005099.4:intron;ESP6500_GL=ADAMTS4;ESP6500_GRCh38_POSITION=1:161193843;ESP6500_GTC=2208,3222,1073;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005099.4:c.1549-17G>A;ESP6500_MAF=41.7326,40.3768,41.2733;ESP6500_TAC=7638,5368	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1898,185,0
chr1	161196933	rs35630547	G	T	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.122;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.17;ReadPosRankSum=0.809;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35630547;dbSNPBuildID=126;ANN=T|upstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding||c.-5453G>T|||||2382|,T|intron_variant|MODIFIER|ADAMTS4|ADAMTS4|transcript|NM_001320336.1|protein_coding|1/8|c.634-53C>A||||||,T|intron_variant|MODIFIER|ADAMTS4|ADAMTS4|transcript|NM_005099.5|protein_coding|1/8|c.634-53C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=792;p3_1000G_AF=0.158147;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=19537;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.1382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161166723;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,5:16:99:127,0,342
chr1	161197908	rs4589131	T	G	64.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4589131;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding||c.-4478T>G|||||1407|,G|upstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding||c.-4478T>G|||||4239|,G|intron_variant|MODIFIER|ADAMTS4|ADAMTS4|transcript|NM_001320336.1|protein_coding|1/8|c.633+87A>C||||||,G|intron_variant|MODIFIER|ADAMTS4|ADAMTS4|transcript|NM_005099.5|protein_coding|1/8|c.633+87A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3587;p3_1000G_AF=0.716254;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=18812;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161167698;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr1	161198214	rs33941127	C	T	924.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.999;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.944;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.799;SOR=1.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs33941127;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|ADAMTS4|ADAMTS4|transcript|NM_001320336.1|protein_coding|1/9|c.414G>A|p.Ser138Ser|840/4188|414/2541|138/846||,T|synonymous_variant|LOW|ADAMTS4|ADAMTS4|transcript|NM_005099.5|protein_coding|1/9|c.414G>A|p.Ser138Ser|840/4349|414/2514|138/837||,T|upstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding||c.-4172C>T|||||1101|,T|upstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding||c.-4172C>T|||||3933|;p3_1000G_AA=C|||;p3_1000G_AC=1828;p3_1000G_AF=0.365016;p3_1000G_AFR_AF=0.4145;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=17741;p3_1000G_EAS_AF=0.4494;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161168004;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1587,2819;ESP6500_AA_AGE=489.4+/-361.5;ESP6500_AA_GTC=271,1045,887;ESP6500_CDS_SIZES=NM_005099.4:2514;ESP6500_CG=-6.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=62;ESP6500_EA_AC=1776,6824;ESP6500_EA_AGE=320.1+/-314.5;ESP6500_EA_GTC=175,1426,2699;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005099.4:coding-synonymous;ESP6500_GL=ADAMTS4;ESP6500_GRCh38_POSITION=1:161198214;ESP6500_GTC=446,2471,3586;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005099.4:c.414G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005099.4:p.(S138);ESP6500_MAF=20.6512,36.0191,25.8573;ESP6500_TAC=3363,9643	GT:AD:DP:GQ:PL	0/1:21,34:55:99:953,0,468
chr1	161206347	rs4656993	A	G	364.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.6;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656993;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding|3/14|c.203-60A>G||||||,G|intron_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding|2/12|c.203-60A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3528;p3_1000G_AF=0.704473;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=19446;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161176137;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:393,27,0
chr1	161210087	rs4656994	G	A	558.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.3;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=9.057;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.309;SOR=0.449;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4656994;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding|7/14|c.703-24G>A||||||,A|intron_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding|6/12|c.703-24G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1325;p3_1000G_AF=0.264577;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=19557;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161179877;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=888,3518;ESP6500_AA_AGE=742.2+/-411.3;ESP6500_AA_GTC=77,734,1392;ESP6500_CDS_SIZES=NM_004550.4:1392,NM_001166159.1:1374;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=103;ESP6500_EA_AC=1853,6747;ESP6500_EA_AGE=730.0+/-406.7;ESP6500_EA_GTC=187,1479,2634;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004550.4:intron,NM_001166159.1:intron;ESP6500_GL=NDUFS2;ESP6500_GRCh38_POSITION=1:161210087;ESP6500_GTC=264,2213,4026;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004550.4:c.703-24G>A,NM_001166159.1:c.703-24G>A;ESP6500_MAF=21.5465,20.1543,21.0749;ESP6500_TAC=2741,10265	GT:AD:DP:GQ:PL	0/1:22,22:44:99:587,0,658
chr1	161213726	rs1136207;129698	C	T	780.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.559;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0.972;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.444;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1136207;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding|13/15|c.1290C>T|p.Ala430Ala|1738/2041|1290/1392|430/463||,T|synonymous_variant|LOW|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding|12/13|c.1290C>T|p.Ala430Ala|1529/2066|1290/1374|430/457||,T|upstream_gene_variant|MODIFIER|FCER1G|FCER1G|transcript|NM_004106.1|protein_coding||c.-1596C>T|||||1571|;p3_1000G_AA=C|||;p3_1000G_AC=792;p3_1000G_AF=0.158147;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=20562;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161183516;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=223,4183;ESP6500_AA_AGE=132.9+/-169.3;ESP6500_AA_GTC=6,211,1986;ESP6500_CDS_SIZES=NM_004550.4:1392,NM_001166159.1:1374;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=106;ESP6500_EA_AC=1155,7445;ESP6500_EA_AGE=237.1+/-269.0;ESP6500_EA_GTC=74,1007,3219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004550.4:coding-synonymous,NM_001166159.1:coding-synonymous;ESP6500_GL=NDUFS2;ESP6500_GRCh38_POSITION=1:161213726;ESP6500_GTC=80,1218,5205;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004550.4:c.1290C>T,NM_001166159.1:c.1290C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004550.4:p.(A430),NM_001166159.1:p.(A430);ESP6500_MAF=13.4302,5.0613,10.5951;ESP6500_TAC=1378,11628;CLINVAR_AF_ESP=0.1060;CLINVAR_AF_EXAC=0.15233;CLINVAR_AF_TGP=0.1582;CLINVAR_ALLELEID=135144;CLINVAR_CLNDISDB=MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLINVAR_CLNDN=Mitochondrial_complex_I_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.161213726C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2879;CLINVAR_GENEINFO=NDUFS2:4720;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1136207	GT:AD:DP:GQ:PL	0/1:31,32:63:99:809,0,818
chr1	161214269	rs10629771;293284	C	CTG	383.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.996;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=34.88;ReadPosRankSum=2.04;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10629771;dbSNPBuildID=135;ANN=CTG|3_prime_UTR_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding|15/15|c.*106_*107dupGT|||||108|INFO_REALIGN_3_PRIME,CTG|3_prime_UTR_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding|13/13|c.*358_*359dupGT|||||360|INFO_REALIGN_3_PRIME,CTG|upstream_gene_variant|MODIFIER|FCER1G|FCER1G|transcript|NM_004106.1|protein_coding||c.-1053_-1052insTG|||||1027|;CLINVAR_ALLELEID=277997;CLINVAR_CLNDISDB=MedGen:C1838979,OMIM:252010;CLINVAR_CLNDN=Mitochondrial_complex_I_deficiency;CLINVAR_CLNHGVS=NC_000001.11:g.161214299_161214300dupGT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:561253;CLINVAR_GENEINFO=NDUFS2:4720;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=886045466	GT:AD:DP:GQ:PL	0/1:2,9:11:31:250,0,31
chr1	161214307	rs1136224;293289	A	G	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=1.87;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1136224;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding|15/15|c.*114A>G|||||114|,G|3_prime_UTR_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding|13/13|c.*366A>G|||||366|,G|upstream_gene_variant|MODIFIER|FCER1G|FCER1G|transcript|NM_004106.1|protein_coding||c.-1015A>G|||||990|;p3_1000G_AA=A|||;p3_1000G_AC=912;p3_1000G_AF=0.182109;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=17372;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.1521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161184097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1821;CLINVAR_ALLELEID=277896;CLINVAR_CLNDISDB=MedGen:C1838979,OMIM:252010;CLINVAR_CLNDN=Mitochondrial_complex_I_deficiency;CLINVAR_CLNHGVS=NC_000001.11:g.161214307A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2894;CLINVAR_GENEINFO=NDUFS2:4720;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1136224	GT:AD:DP:GQ:PL	0/1:8,10:18:99:328,0,246
chr1	161215268	rs2070901	G	T	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.127;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.225;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.161;SOR=1.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2070901;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|FCER1G|FCER1G|transcript|NM_004106.1|protein_coding||c.-54G>T|||||29|,T|downstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding||c.*1075G>T|||||874|,T|downstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding||c.*1327G>T|||||874|,T|intergenic_region|MODIFIER|NDUFS2-FCER1G|NDUFS2-FCER1G|intergenic_region|NDUFS2-FCER1G|||n.161215268G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1957;p3_1000G_AF=0.390775;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=17288;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161185058;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=548,836;ESP6500_AA_GTC=111,326,255;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=109;ESP6500_EA_AC=841,2341;ESP6500_EA_GTC=112,617,862;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:161215268;ESP6500_GTC=223,943,1117;ESP6500_GTS=TT,TG,GG;ESP6500_MAF=26.4299,39.5954,30.4205;ESP6500_TAC=1389,3177	GT:AD:DP:GQ:PL	0/1:19,16:35:99:389,0,530
chr1	161217875	rs2070902	C	T	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.349;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=1.83;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2070902;dbSNPBuildID=96;ANN=T|downstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_004550.4|protein_coding||c.*3682C>T|||||3481|,T|downstream_gene_variant|MODIFIER|APOA2|APOA2|transcript|NM_001643.1|protein_coding||c.*4530G>A|||||4418|,T|downstream_gene_variant|MODIFIER|NDUFS2|NDUFS2|transcript|NM_001166159.1|protein_coding||c.*3934C>T|||||3481|,T|intron_variant|MODIFIER|FCER1G|FCER1G|transcript|NM_004106.1|protein_coding|1/4|c.50-111C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1842;p3_1000G_AF=0.367812;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=16942;p3_1000G_EAS_AF=0.3968;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161187665;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:177,0,248
chr1	161222526	rs6413453;293292	G	A	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-0.493;SOR=1.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6413453;dbSNPBuildID=116;ANN=A|splice_region_variant&intron_variant|LOW|APOA2|APOA2|transcript|NM_001643.1|protein_coding|3/3|c.186-4C>T||||||,A|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding||c.-3964G>A|||||3413|,A|upstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.-4660G>A|||||4660|,A|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding||c.-3964G>A|||||3413|,A|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding||c.-3964G>A|||||3413|,A|downstream_gene_variant|MODIFIER|FCER1G|FCER1G|transcript|NM_004106.1|protein_coding||c.*3583G>A|||||3278|;p3_1000G_AA=G|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=19677;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161192316;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=136,4270;ESP6500_AA_AGE=98.5+/-137.1;ESP6500_AA_GTC=1,134,2068;ESP6500_CDS_SIZES=NM_001643.1:303;ESP6500_CG=2.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=162;ESP6500_EA_AC=933,7667;ESP6500_EA_AGE=205.8+/-248.1;ESP6500_EA_GTC=61,811,3428;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001643.1:intron;ESP6500_GL=APOA2;ESP6500_GRCh38_POSITION=1:161222526;ESP6500_GTC=62,945,5496;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001643.1:c.186-4C>T;ESP6500_MAF=10.8488,3.0867,8.2193;ESP6500_TAC=1069,11937;CLINVAR_AF_ESP=0.0822;CLINVAR_AF_EXAC=0.11352;CLINVAR_AF_TGP=0.1030;CLINVAR_ALLELEID=277897;CLINVAR_CLNDISDB=MedGen:C3888202;CLINVAR_CLNDN=Apolipoprotein_A-II_deficiency;CLINVAR_CLNHGVS=NC_000001.11:g.161222526G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:581008;CLINVAR_GENEINFO=APOA2:336;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6413453	GT:AD:DP:GQ:PL	0/1:19,8:27:99:198,0,479
chr1	161223055	rs745859273	CCACACACACA	C	2231.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.91;QD=31.05;SOR=0.892;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72148517;dbSNPBuildID=144;ANN=C|splice_region_variant&intron_variant|LOW|APOA2|APOA2|transcript|NM_001643.1|protein_coding|2/3|c.53-15_53-6delTGTGTGTGTG||||||,C|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding||c.-3434_-3425delCACACACACA|||||2883|,C|upstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.-4130_-4121delCACACACACA|||||4130|,C|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding||c.-3434_-3425delCACACACACA|||||2883|,C|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding||c.-3434_-3425delCACACACACA|||||2883|,C|downstream_gene_variant|MODIFIER|FCER1G|FCER1G|transcript|NM_004106.1|protein_coding||c.*4113_*4122delCACACACACA|||||3808|	GT:AD:DP:GQ:PL	1/0:0,25:25:99:2269,1123,1068
chr1	161223055	.	CCACACACACA	CCACA	2231.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.91;QD=31.05;SOR=0.892;DEL;HET;VARTYPE=DEL;ANN=CCACA|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding||c.-3430_-3425delCACACA|||||2879|,CCACA|upstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.-4126_-4121delCACACA|||||4126|,CCACA|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding||c.-3430_-3425delCACACA|||||2879|,CCACA|upstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding||c.-3430_-3425delCACACA|||||2879|,CCACA|downstream_gene_variant|MODIFIER|FCER1G|FCER1G|transcript|NM_004106.1|protein_coding||c.*4117_*4122delCACACA|||||3812|,CCACA|intron_variant|MODIFIER|APOA2|APOA2|transcript|NM_001643.1|protein_coding|2/3|c.53-15_53-10delTGTGTG||||||	GT:AD:DP:GQ:PL	0/1:0,26:26:99:2269,1118,1021
chr1	161226376	rs3813628	A	C	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.385;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813628;dbSNPBuildID=107;ANN=C|5_prime_UTR_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding|2/10|c.-114A>C|||||114|,C|5_prime_UTR_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding|2/9|c.-114A>C|||||114|,C|5_prime_UTR_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding|2/8|c.-114A>C|||||114|,C|upstream_gene_variant|MODIFIER|APOA2|APOA2|transcript|NM_001643.1|protein_coding||c.-2975T>G|||||2748|,C|upstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.-810A>C|||||810|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077482.2|protein_coding||c.*3421T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077469.2|protein_coding||c.*3306T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077470.2|protein_coding||c.*3421T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077471.2|protein_coding||c.*3421T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077472.2|protein_coding||c.*3421T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077473.2|protein_coding||c.*3306T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077474.2|protein_coding||c.*3306T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077475.2|protein_coding||c.*3306T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077476.2|protein_coding||c.*3306T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077477.2|protein_coding||c.*3306T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077478.2|protein_coding||c.*3306T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077479.2|protein_coding||c.*3421T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077480.2|protein_coding||c.*3421T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077481.2|protein_coding||c.*3421T>G|||||3290|,C|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_005122.4|protein_coding||c.*3421T>G|||||3290|;p3_1000G_AA=A|||;p3_1000G_AC=1571;p3_1000G_AF=0.313698;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=12542;p3_1000G_EAS_AF=0.5367;p3_1000G_EUR_AF=0.3449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161196166;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:56:110,0,56
chr1	161226522	rs180981915	G	T	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.605;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-2.105;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs180981915;dbSNPBuildID=135;ANN=T|synonymous_variant|LOW|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding|2/10|c.33G>T|p.Gly11Gly|366/2911|33/927|11/308||,T|synonymous_variant|LOW|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding|2/9|c.33G>T|p.Gly11Gly|366/2809|33/825|11/274||,T|synonymous_variant|LOW|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding|2/8|c.33G>T|p.Gly11Gly|366/2716|33/732|11/243||,T|upstream_gene_variant|MODIFIER|APOA2|APOA2|transcript|NM_001643.1|protein_coding||c.-3121C>A|||||2894|,T|upstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.-664G>T|||||664|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077482.2|protein_coding||c.*3275C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077469.2|protein_coding||c.*3160C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077470.2|protein_coding||c.*3275C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077471.2|protein_coding||c.*3275C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077472.2|protein_coding||c.*3275C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077473.2|protein_coding||c.*3160C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077474.2|protein_coding||c.*3160C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077475.2|protein_coding||c.*3160C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077476.2|protein_coding||c.*3160C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077477.2|protein_coding||c.*3160C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077478.2|protein_coding||c.*3160C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077479.2|protein_coding||c.*3275C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077480.2|protein_coding||c.*3275C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077481.2|protein_coding||c.*3275C>A|||||3144|,T|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_005122.4|protein_coding||c.*3275C>A|||||3144|;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13258;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161196312;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,13:23:99:336,0,286
chr1	161227454	rs4233368	C	A	475.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.351;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.99;ReadPosRankSum=-0.702;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4233368;dbSNPBuildID=111;ANN=A|upstream_gene_variant|MODIFIER|APOA2|APOA2|transcript|NM_001643.1|protein_coding||c.-4053G>T|||||3826|,A|downstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.*193C>A|||||193|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077482.2|protein_coding||c.*2343G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077469.2|protein_coding||c.*2228G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077470.2|protein_coding||c.*2343G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077471.2|protein_coding||c.*2343G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077472.2|protein_coding||c.*2343G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077473.2|protein_coding||c.*2228G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077474.2|protein_coding||c.*2228G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077475.2|protein_coding||c.*2228G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077476.2|protein_coding||c.*2228G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077477.2|protein_coding||c.*2228G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077478.2|protein_coding||c.*2228G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077479.2|protein_coding||c.*2343G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077480.2|protein_coding||c.*2343G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077481.2|protein_coding||c.*2343G>T|||||2212|,A|downstream_gene_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_005122.4|protein_coding||c.*2343G>T|||||2212|,A|intron_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding|4/9|c.276+104C>A||||||,A|intron_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding|4/8|c.276+104C>A||||||,A|intron_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding|3/7|c.184-430C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1846;p3_1000G_AF=0.36861;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=20645;p3_1000G_EAS_AF=0.3631;p3_1000G_EUR_AF=0.2555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161197244;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,15:17:34:504,0,34
chr1	161230697	rs4073054	C	A	1813.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4073054;dbSNPBuildID=108;ANN=A|3_prime_UTR_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding|10/10|c.*1602C>A|||||1602|,A|3_prime_UTR_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding|9/9|c.*1602C>A|||||1602|,A|3_prime_UTR_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding|8/8|c.*1602C>A|||||1602|,A|downstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.*3436C>A|||||3436|,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077482.2|protein_coding|8/8|c.944+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077469.2|protein_coding|8/8|c.932+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077470.2|protein_coding|6/6|c.713+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077471.2|protein_coding|7/7|c.800+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077472.2|protein_coding|7/7|c.845+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077473.2|protein_coding|7/7|c.857+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077474.2|protein_coding|7/7|c.800+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077475.2|protein_coding|6/6|c.713+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077476.2|protein_coding|7/7|c.845+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077477.2|protein_coding|7/7|c.830+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077478.2|protein_coding|8/8|c.929+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077479.2|protein_coding|7/7|c.830+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077480.2|protein_coding|8/8|c.929+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077481.2|protein_coding|7/7|c.815+116G>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_005122.4|protein_coding|8/8|c.917+116G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3833;p3_1000G_AF=0.765375;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=21081;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161200487;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7873;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1842,165,0
chr1	161230796	rs2307418;95259	T	G	550.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.979;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0.972;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=0.587;SOR=0.95;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2307418;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding||c.*1701T>G|||||50|,G|downstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.*3535T>G|||||3535|,G|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding||c.*1701T>G|||||50|,G|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding||c.*1701T>G|||||50|,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077482.2|protein_coding|8/8|c.944+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077469.2|protein_coding|8/8|c.932+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077470.2|protein_coding|6/6|c.713+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077471.2|protein_coding|7/7|c.800+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077472.2|protein_coding|7/7|c.845+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077473.2|protein_coding|7/7|c.857+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077474.2|protein_coding|7/7|c.800+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077475.2|protein_coding|6/6|c.713+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077476.2|protein_coding|7/7|c.845+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077477.2|protein_coding|7/7|c.830+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077478.2|protein_coding|8/8|c.929+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077479.2|protein_coding|7/7|c.830+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077480.2|protein_coding|8/8|c.929+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077481.2|protein_coding|7/7|c.815+17A>C||||||,G|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_005122.4|protein_coding|8/8|c.917+17A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=414;p3_1000G_AF=0.0826677;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=20129;p3_1000G_EAS_AF=0.0923;p3_1000G_EUR_AF=0.1491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161200586;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=128,4278;ESP6500_AA_AGE=91.6+/-130.3;ESP6500_AA_GTC=4,120,2079;ESP6500_CDS_SIZES=NM_005122.4:1047,NM_001077482.2:1074,NM_001077481.2:945,NM_001077480.2:1059,NM_001077479.2:960,NM_001077478.2:1020,NM_001077477.2:921,NM_001077476.2:936,NM_001077475.2:804,NM_001077474.2:891,NM_001077473.2:948,NM_001077472.2:975,NM_001077471.2:930,NM_001077470.2:843,NM_001077469.2:1023;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=67;ESP6500_EA_AC=1352,7248;ESP6500_EA_AGE=263.7+/-285.1;ESP6500_EA_GTC=100,1152,3048;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005122.4:intron,NM_001077482.2:intron,NM_001077481.2:intron,NM_001077480.2:intron,NM_001077479.2:intron,NM_001077478.2:intron,NM_001077477.2:intron,NM_001077476.2:intron,NM_001077475.2:intron,NM_001077474.2:intron,NM_001077473.2:intron,NM_001077472.2:intron,NM_001077471.2:intron,NM_001077470.2:intron,NM_001077469.2:intron;ESP6500_GL=NR1I3;ESP6500_GRCh38_POSITION=1:161230796;ESP6500_GTC=104,1272,5127;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_005122.4:c.917+17A>C,NM_001077482.2:c.944+17A>C,NM_001077481.2:c.815+17A>C,NM_001077480.2:c.929+17A>C,NM_001077479.2:c.830+17A>C,NM_001077478.2:c.929+17A>C,NM_001077477.2:c.830+17A>C,NM_001077476.2:c.845+17A>C,NM_001077475.2:c.713+17A>C,NM_001077474.2:c.800+17A>C,NM_001077473.2:c.857+17A>C,NM_001077472.2:c.845+17A>C,NM_001077471.2:c.800+17A>C,NM_001077470.2:c.713+17A>C,NM_001077469.2:c.932+17A>C;ESP6500_MAF=15.7209,2.9051,11.3794;ESP6500_TAC=1480,11526;CLINVAR_AF_ESP=0.1138;CLINVAR_AF_EXAC=0.13220;CLINVAR_AF_TGP=0.0827;CLINVAR_ALLELEID=101158;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.161230796T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NR1I3:9970;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2307418	GT:AD:DP:GQ:PL	0/1:45,25:70:99:579,0,1166
chr1	161231560	rs11265567	G	T	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11265567;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding||c.*2465G>T|||||814|,T|downstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.*4299G>T|||||4299|,T|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding||c.*2465G>T|||||814|,T|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding||c.*2465G>T|||||814|,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077482.2|protein_coding|5/8|c.549-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077469.2|protein_coding|5/8|c.549-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077470.2|protein_coding|4/6|c.462-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077471.2|protein_coding|5/7|c.549-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077472.2|protein_coding|4/7|c.462-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077473.2|protein_coding|4/7|c.462-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077474.2|protein_coding|5/7|c.549-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077475.2|protein_coding|4/6|c.462-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077476.2|protein_coding|4/7|c.462-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077477.2|protein_coding|4/7|c.462-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077478.2|protein_coding|5/8|c.549-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077479.2|protein_coding|4/7|c.462-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077480.2|protein_coding|5/8|c.549-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077481.2|protein_coding|5/7|c.549-86C>A||||||,T|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_005122.4|protein_coding|5/8|c.549-86C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=17396;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161201350;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:161231560_G_T:405,27,0
chr1	161231562	rs11265568	G	A	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.29;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11265568;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding||c.*2467G>A|||||816|,A|downstream_gene_variant|MODIFIER|MIR5187|MIR5187|transcript|NR_049819.1|pseudogene||n.*4301G>A|||||4301|,A|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding||c.*2467G>A|||||816|,A|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding||c.*2467G>A|||||816|,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077482.2|protein_coding|5/8|c.549-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077469.2|protein_coding|5/8|c.549-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077470.2|protein_coding|4/6|c.462-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077471.2|protein_coding|5/7|c.549-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077472.2|protein_coding|4/7|c.462-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077473.2|protein_coding|4/7|c.462-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077474.2|protein_coding|5/7|c.549-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077475.2|protein_coding|4/6|c.462-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077476.2|protein_coding|4/7|c.462-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077477.2|protein_coding|4/7|c.462-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077478.2|protein_coding|5/8|c.549-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077479.2|protein_coding|4/7|c.462-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077480.2|protein_coding|5/8|c.549-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_001077481.2|protein_coding|5/7|c.549-88C>T||||||,A|intron_variant|MODIFIER|NR1I3|NR1I3|transcript|NM_005122.4|protein_coding|5/8|c.549-88C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=17560;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161201352;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:161231560_G_T:405,27,0
chr1	161232815	rs2307424;197772	G	A	1278.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.8;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2307424;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077482.2|protein_coding|5/9|c.540C>T|p.Pro180Pro|743/1408|540/1074|180/357||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077469.2|protein_coding|5/9|c.540C>T|p.Pro180Pro|743/1242|540/1023|180/340||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077470.2|protein_coding|4/7|c.453C>T|p.Pro151Pro|603/1124|453/843|151/280||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077471.2|protein_coding|5/8|c.540C>T|p.Pro180Pro|743/1264|540/930|180/309||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077472.2|protein_coding|4/8|c.453C>T|p.Pro151Pro|603/1256|453/975|151/324||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077473.2|protein_coding|4/8|c.453C>T|p.Pro151Pro|603/1114|453/948|151/315||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077474.2|protein_coding|5/8|c.540C>T|p.Pro180Pro|743/1110|540/891|180/296||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077475.2|protein_coding|4/7|c.453C>T|p.Pro151Pro|603/970|453/804|151/267||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077476.2|protein_coding|4/8|c.453C>T|p.Pro151Pro|603/1102|453/936|151/311||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077477.2|protein_coding|4/8|c.453C>T|p.Pro151Pro|603/1087|453/921|151/306||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077478.2|protein_coding|5/9|c.540C>T|p.Pro180Pro|743/1239|540/1020|180/339||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077479.2|protein_coding|4/8|c.453C>T|p.Pro151Pro|603/1241|453/960|151/319||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077480.2|protein_coding|5/9|c.540C>T|p.Pro180Pro|743/1393|540/1059|180/352||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_001077481.2|protein_coding|5/8|c.540C>T|p.Pro180Pro|743/1279|540/945|180/314||,A|synonymous_variant|LOW|NR1I3|NR1I3|transcript|NM_005122.4|protein_coding|5/9|c.540C>T|p.Pro180Pro|743/1381|540/1047|180/348||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077469.2|protein_coding|5/9|c.540C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077470.2|protein_coding|4/7|c.453C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077471.2|protein_coding|5/8|c.540C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077472.2|protein_coding|4/8|c.453C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077473.2|protein_coding|4/8|c.453C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077474.2|protein_coding|5/8|c.540C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077475.2|protein_coding|4/7|c.453C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077476.2|protein_coding|4/8|c.453C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077477.2|protein_coding|4/8|c.453C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077478.2|protein_coding|5/9|c.540C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077479.2|protein_coding|4/8|c.453C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077480.2|protein_coding|5/9|c.540C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_001077481.2|protein_coding|5/8|c.540C>T||||||,A|sequence_feature|LOW|NR1I3|NR1I3|helix:combinatorial_evidence_used_in_manual_assertion|NM_005122.4|protein_coding|5/9|c.540C>T||||||,A|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_032174.5|protein_coding||c.*3720G>A|||||2069|,A|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286373.1|protein_coding||c.*3720G>A|||||2069|,A|downstream_gene_variant|MODIFIER|TOMM40L|TOMM40L|transcript|NM_001286374.1|protein_coding||c.*3720G>A|||||2069|;p3_1000G_AA=G|||;p3_1000G_AC=1684;p3_1000G_AF=0.336262;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=20654;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.3489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161202605;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=632,3774;ESP6500_AA_AGE=270.1+/-269.4;ESP6500_AA_GTC=43,546,1614;ESP6500_CDS_SIZES=NM_005122.4:1047,NM_001077482.2:1074,NM_001077481.2:945,NM_001077480.2:1059,NM_001077479.2:960,NM_001077478.2:1020,NM_001077477.2:921,NM_001077476.2:936,NM_001077475.2:804,NM_001077474.2:891,NM_001077473.2:948,NM_001077472.2:975,NM_001077471.2:930,NM_001077470.2:843,NM_001077469.2:1023;ESP6500_CG=-1.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=112;ESP6500_EA_AC=2878,5722;ESP6500_EA_AGE=450.4+/-362.4;ESP6500_EA_GTC=480,1918,1902;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005122.4:coding-synonymous,NM_001077482.2:coding-synonymous,NM_001077481.2:coding-synonymous,NM_001077480.2:coding-synonymous,NM_001077479.2:coding-synonymous,NM_001077478.2:coding-synonymous,NM_001077477.2:coding-synonymous,NM_001077476.2:coding-synonymous,NM_001077475.2:coding-synonymous,NM_001077474.2:coding-synonymous,NM_001077473.2:coding-synonymous,NM_001077472.2:coding-synonymous,NM_001077471.2:coding-synonymous,NM_001077470.2:coding-synonymous,NM_001077469.2:coding-synonymous;ESP6500_GL=NR1I3;ESP6500_GRCh38_POSITION=1:161232815;ESP6500_GTC=523,2464,3516;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005122.4:c.540C>T,NM_001077482.2:c.540C>T,NM_001077481.2:c.540C>T,NM_001077480.2:c.540C>T,NM_001077479.2:c.453C>T,NM_001077478.2:c.540C>T,NM_001077477.2:c.453C>T,NM_001077476.2:c.453C>T,NM_001077475.2:c.453C>T,NM_001077474.2:c.540C>T,NM_001077473.2:c.453C>T,NM_001077472.2:c.453C>T,NM_001077471.2:c.540C>T,NM_001077470.2:c.453C>T,NM_001077469.2:c.540C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005122.4:p.(P180),NM_001077482.2:p.(P180),NM_001077481.2:p.(P180),NM_001077480.2:p.(P180),NM_001077479.2:p.(P151),NM_001077478.2:p.(P180),NM_001077477.2:p.(P151),NM_001077476.2:p.(P151),NM_001077475.2:p.(P151),NM_001077474.2:p.(P180),NM_001077473.2:p.(P151),NM_001077472.2:p.(P151),NM_001077471.2:p.(P180),NM_001077470.2:p.(P151),NM_001077469.2:p.(P180);ESP6500_MAF=33.4651,14.3441,26.9875;ESP6500_TAC=3510,9496;CLINVAR_AF_ESP=0.2699;CLINVAR_AF_EXAC=0.35343;CLINVAR_AF_TGP=0.3363;CLINVAR_ALLELEID=194933;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.161232815G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NR1I3:9970;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2307424	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1307,138,0
chr1	161259010	rs4078110	C	T	143.18	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.431;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4078110;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|PCP4L1|PCP4L1|transcript|NM_001102566.1|protein_coding|1/2|c.9+27C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1387;p3_1000G_AF=0.276957;p3_1000G_AFR_AF=0.1929;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=11917;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.2306;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161228800;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,8:9:10:171,0,10
chr1	161306644	rs6674383	A	G	2303.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=2.546;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6674383;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MPZ|MPZ|transcript|NM_001315491.1|protein_coding|3/5|c.448+64T>C||||||,G|intron_variant|MODIFIER|MPZ|MPZ|transcript|NM_000530.7|protein_coding|3/5|c.448+64T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19120;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161276434;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2332,180,0
chr1	161323706	rs117507008;440260	T	A	919.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.07;SOR=3.69;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs117507008;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_003001.3|protein_coding|2/5|c.77+36T>A||||||,A|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_001035511.1|protein_coding|2/4|c.77+36T>A||||||,A|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_001035512.1|protein_coding|2/4|c.77+36T>A||||||,A|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_001035513.1|protein_coding|1/3|c.20+9281T>A||||||,A|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_001278172.1|protein_coding|2/3|c.77+36T>A||||||,A|intron_variant|MODIFIER|SDHC|SDHC|transcript|NR_103459.1|pseudogene|2/6|n.107+36T>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=473;p3_1000G_AF=0.0944489;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=15152;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161293496;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA_AC=268,4120;ESP6500_AA_GTC=10,248,1936;ESP6500_CDS_SIZES=NM_003001.3:510,NM_001035513.1:351,NM_001035512.1:408,NM_001035511.1:453;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=21;ESP6500_EA_AC=179,8421;ESP6500_EA_GTC=3,173,4124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003001.3:intron,NM_001035513.1:intron,NM_001035512.1:intron,NM_001035511.1:intron;ESP6500_GL=SDHC;ESP6500_GRCh38_POSITION=1:161323706;ESP6500_GTC=13,421,6060;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_003001.3:c.77+36T>A,NM_001035513.1:c.20+9281T>A,NM_001035512.1:c.77+36T>A,NM_001035511.1:c.77+36T>A;ESP6500_MAF=2.0814,6.1076,3.4416;ESP6500_TAC=447,12541;CLINVAR_ALLELEID=432986;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.161323706T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:1996;CLINVAR_GENEINFO=SDHC:6391;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=117507008	GT:AD:DP:GQ:PL	1/1:0,27:27:81:948,81,0
chr1	161340471	.	CAA	C	13.91	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.611;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=1.98;SOR=0.105;DEL;HET;VARTYPE=DEL;ANN=C|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_003001.3|protein_coding|3/5|c.180-111_180-110delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_001035511.1|protein_coding|3/4|c.180-111_180-110delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_001035512.1|protein_coding|2/4|c.78-111_78-110delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_001035513.1|protein_coding|1/3|c.21-111_21-110delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SDHC|SDHC|transcript|NM_001278172.1|protein_coding|2/3|c.78-111_78-110delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SDHC|SDHC|transcript|NR_103459.1|pseudogene|4/6|n.237-111_237-110delAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:6,2:8:51:51,0,195
chr1	161423979	rs9286344	G	C	38.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=38.87;MQRankSum=-2.369;QD=4.85;ReadPosRankSum=-1.029;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9286344;dbSNPBuildID=119;ANN=C|intergenic_region|MODIFIER|CFAP126-FCGR2A|CFAP126-FCGR2A|intergenic_region|CFAP126-FCGR2A|||n.161423979G>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=1950;p3_1000G_AF=0.389377;p3_1000G_AFR_AF=0.3389;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=12620;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.3489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161393769;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:67:67,0,118
chr1	161525687	rs17853454;rs72633678	A	T	2448.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.47;QD=30.61;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72633678;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|HSPA6|HSPA6|transcript|NM_002155.4|protein_coding|1/1|c.1029A>T|p.Thr343Thr|1148/2358|1029/1932|343/643||;ESP6500_AA=T;ESP6500_AA_AC=2942,1464;ESP6500_AA_GTC=957,1028,218;ESP6500_CDS_SIZES=NM_002155.3:1932;ESP6500_CG=-0.2;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=37;ESP6500_EA_AC=5552,3048;ESP6500_EA_GTC=1767,2018,515;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002155.3:coding-synonymous;ESP6500_GL=HSPA6;ESP6500_GRCh38_POSITION=1:161525687;ESP6500_GTC=2724,3046,733;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002155.3:c.1029A>T;ESP6500_HGVS_PROTEIN_VAR=NM_002155.3:p.(T343);ESP6500_MAF=35.4419,33.2274,34.6917;ESP6500_TAC=8494,4512	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2477,240,0
chr1	161526095	rs404508	T	C	2741.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.82;QD=31.51;SOR=0.812;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs404508;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|HSPA6|HSPA6|transcript|NM_002155.4|protein_coding|1/1|c.1437T>C|p.Thr479Thr|1556/2358|1437/1932|479/643||;p3_1000G_AA=C|||;p3_1000G_AC=4012;p3_1000G_AF=0.801118;p3_1000G_AFR_AF=0.7791;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=20105;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.7883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161495885;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7853;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3495,911;ESP6500_AA_GTC=1377,741,85;ESP6500_CDS_SIZES=NM_002155.3:1932;ESP6500_CG=1.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=66;ESP6500_EA_AC=6462,2138;ESP6500_EA_GTC=2425,1612,263;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002155.3:coding-synonymous;ESP6500_GL=HSPA6;ESP6500_GRCh38_POSITION=1:161526095;ESP6500_GTC=3802,2353,348;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002155.3:c.1437T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002155.3:p.(T479);ESP6500_MAF=24.8605,20.6764,23.443;ESP6500_TAC=9957,3049	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2770,260,0
chr1	161549621	rs10917571	C	A	946.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.5;QD=30.54;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10917571;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|FCGR3A|FCGR3A|transcript|NM_000569.7|protein_coding|1/4|c.355+76G>T||||||,A|intron_variant|MODIFIER|FCGR3A|FCGR3A|transcript|NM_001127592.2|protein_coding|1/4|c.355+76G>T||||||,A|intron_variant|MODIFIER|FCGR3A|FCGR3A|transcript|NM_001329122.1|protein_coding|1/3|c.355+76G>T||||||,A|intron_variant|MODIFIER|FCGR3A|FCGR3A|transcript|NM_001127593.1|protein_coding|2/5|c.40+76G>T||||||,A|intron_variant|MODIFIER|FCGR3A|FCGR3A|transcript|NM_001127595.1|protein_coding|2/5|c.40+76G>T||||||,A|intron_variant|MODIFIER|FCGR3A|FCGR3A|transcript|NM_001127596.1|protein_coding|2/5|c.40+76G>T||||||,A|intron_variant|MODIFIER|FCGR3A|FCGR3A|transcript|NM_001329120.1|protein_coding|2/5|c.40+76G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1705;p3_1000G_AF=0.340455;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=22775;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.4235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161519411;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:975,93,0
chr1	161591361	rs74341264	G	A	466.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.79;QD=35.08;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs74341264;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|FCGR2C|FCGR2C|transcript|NM_201563.5|protein_coding|4/7|c.609G>A|p.Thr203Thr|708/2488|609/972|203/323||,A|non_coding_transcript_exon_variant|MODIFIER|FCGR2C|FCGR2C|transcript|NR_047648.1|pseudogene|4/7|n.708G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=996;p3_1000G_AF=0.198882;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=20723;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.0944;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161561151;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=628,3706;ESP6500_AA_GTC=107,414,1646;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=39;ESP6500_EA_AC=524,7808;ESP6500_EA_GTC=72,380,3714;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:161591361;ESP6500_GTC=179,794,5360;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=6.289,14.4901,9.0952;ESP6500_TAC=1152,11514	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:161591361_G_A:495,33,0
chr1	161591366	rs76016754	A	T	466.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.79;QD=34.07;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76016754;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|FCGR2C|FCGR2C|transcript|NM_201563.5|protein_coding|4/7|c.614A>T|p.Tyr205Phe|713/2488|614/972|205/323||,T|non_coding_transcript_exon_variant|MODIFIER|FCGR2C|FCGR2C|transcript|NR_047648.1|pseudogene|4/7|n.713A>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=168;p3_1000G_AF=0.0335463;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=20639;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161561156;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2,4324;ESP6500_AA_GTC=0,2,2161;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=42;ESP6500_EA_AC=4,8328;ESP6500_EA_GTC=0,4,4162;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:161591366;ESP6500_GTC=0,6,6323;ESP6500_GTS=TT,TA,AA;ESP6500_MAF=0.048,0.0462,0.0474;ESP6500_TAC=6,12652	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:161591361_G_A:495,33,0
chr1	161591404	rs148639303	A	G	247.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25.96;QD=27.53;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs148639303;dbSNPBuildID=134;ANN=G|splice_region_variant&intron_variant|LOW|FCGR2C|FCGR2C|transcript|NM_201563.5|protein_coding|4/6|c.646+6A>G||||||,G|splice_region_variant&intron_variant|LOW|FCGR2C|FCGR2C|transcript|NR_047648.1|pseudogene|4/6|n.745+6A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=22613;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161561194;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:276,27,0
chr1	161674008	rs1050501;5467	T	C	143.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=34.39;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1050501;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|FCGR2B|FCGR2B|transcript|NM_004001.4|protein_coding|5/8|c.695T>C|p.Ile232Thr|822/2161|695/933|232/310||,C|missense_variant|MODERATE|FCGR2B|FCGR2B|transcript|NM_001002273.2|protein_coding|5/7|c.692T>C|p.Ile231Thr|819/2101|692/873|231/290||,C|missense_variant|MODERATE|FCGR2B|FCGR2B|transcript|NM_001002274.2|protein_coding|5/7|c.695T>C|p.Ile232Thr|822/2104|695/876|232/291||,C|missense_variant|MODERATE|FCGR2B|FCGR2B|transcript|NM_001002275.2|protein_coding|5/8|c.692T>C|p.Ile231Thr|819/2158|692/930|231/309||,C|missense_variant|MODERATE|FCGR2B|FCGR2B|transcript|NM_001190828.1|protein_coding|4/7|c.674T>C|p.Ile225Thr|801/2140|674/912|225/303||;p3_1000G_AA=T|||;p3_1000G_AC=931;p3_1000G_AF=0.185903;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=19503;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.1372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161643798;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.23686;CLINVAR_AF_TGP=0.1859;CLINVAR_ALLELEID=20506;CLINVAR_CLNDISDB=.|MedGen:C2720293;CLINVAR_CLNDN=Systemic_lupus_erythematosus,_susceptibility_to|Malaria,_resistance_to;CLINVAR_CLNHGVS=NC_000001.11:g.161674008T>C;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=protective,_risk_factor;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:604590.0002|UniProtKB_(protein):P31994#VAR_015515;CLINVAR_GENEINFO=FCGR2B:2213;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1050501	GT:AD:DP:GQ:PL	1/1:0,4:4:12:171,12,0
chr1	161674099	rs6666965	G	T	36.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=18.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs140558259;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_004001.4|protein_coding|5/7|c.760+26G>T||||||,T|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002273.2|protein_coding|5/6|c.757+26G>T||||||,T|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002274.2|protein_coding|5/6|c.760+26G>T||||||,T|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002275.2|protein_coding|5/7|c.757+26G>T||||||,T|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001190828.1|protein_coding|4/6|c.739+26G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3337;p3_1000G_AF=0.666334;p3_1000G_AFR_AF=0.5514;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs140558259;p3_1000G_DP=18777;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.7048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161643889;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:64,6,0
chr1	161675220	rs6427615	C	A	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.859;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=50.74;MQRankSum=-1.222;QD=15.58;ReadPosRankSum=0.471;SOR=0.832;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6427615;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_004001.4|protein_coding|5/7|c.761-37C>A||||||,A|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002273.2|protein_coding|5/6|c.757+1147C>A||||||,A|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002274.2|protein_coding|5/6|c.760+1147C>A||||||,A|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002275.2|protein_coding|5/7|c.758-37C>A||||||,A|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001190828.1|protein_coding|4/6|c.740-37C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=898;p3_1000G_AF=0.179313;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=17838;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.1233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161645010;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1139,3261;ESP6500_AA_GTC=184,771,1245;ESP6500_CDS_SIZES=NM_004001.4:933,NM_001190828.1:912,NM_001002275.2:930,NM_001002274.2:876,NM_001002273.2:873;ESP6500_CG=4.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=17;ESP6500_EA_AC=863,7733;ESP6500_EA_GTC=33,797,3468;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004001.4:intron,NM_001190828.1:intron,NM_001002275.2:intron,NM_001002274.2:intron,NM_001002273.2:intron;ESP6500_GL=FCGR2B;ESP6500_GRCh38_POSITION=1:161675220;ESP6500_GTC=217,1568,4713;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_004001.4:c.761-37C>A,NM_001190828.1:c.740-37C>A,NM_001002275.2:c.758-37C>A,NM_001002274.2:c.760+1147C>A,NM_001002273.2:c.757+1147C>A;ESP6500_MAF=10.0396,25.8864,15.4047;ESP6500_TAC=2002,10994	GT:AD:DP:GQ:PL	0/1:11,16:27:99:449,0,244
chr1	161675469	rs1674759	T	G	192.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1674759;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_004001.4|protein_coding|6/7|c.817+156T>G||||||,G|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002273.2|protein_coding|5/6|c.757+1396T>G||||||,G|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002274.2|protein_coding|5/6|c.760+1396T>G||||||,G|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001002275.2|protein_coding|6/7|c.814+156T>G||||||,G|intron_variant|MODIFIER|FCGR2B|FCGR2B|transcript|NM_001190828.1|protein_coding|5/6|c.796+156T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3969;p3_1000G_AF=0.792532;p3_1000G_AFR_AF=0.7224;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=17772;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161645259;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:221,18,0
chr1	161707114	rs1340977	T	C	554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1340977;dbSNPBuildID=88;ANN=C|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|1/6|c.-100T>C|||||100|,C|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|1/4|c.-100T>C|||||100|,C|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|1/4|c.-100T>C|||||100|,C|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/2|c.-100T>C|||||100|,C|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|1/3|c.-100T>C|||||100|,C|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|1/3|c.-100T>C|||||100|,C|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|1/5|c.-100T>C|||||100|;p3_1000G_AA=C|||;p3_1000G_AC=3085;p3_1000G_AF=0.616014;p3_1000G_AFR_AF=0.4977;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=24165;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161676904;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:583,42,0
chr1	161707180	rs1340978	A	G	739.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1340978;dbSNPBuildID=88;ANN=G|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|1/6|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|1/4|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|1/4|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/2|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|1/3|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|1/3|c.-34A>G|||||34|,G|5_prime_UTR_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|1/5|c.-34A>G|||||34|;p3_1000G_AA=G|||;p3_1000G_AC=3201;p3_1000G_AF=0.639177;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=23208;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.6879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161676970;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2652,1754;ESP6500_AA_AGE=521.9+/-370.6;ESP6500_AA_GTC=780,1092,331;ESP6500_CDS_SIZES=NM_032738.3:1131,NM_001184873.1:579,NM_001184872.1:711,NM_001184871.1:426,NM_001184870.1:729,NM_001184867.1:864,NM_001184866.1:1149;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=73;ESP6500_EA_AC=5623,2977;ESP6500_EA_AGE=461.1+/-365.4;ESP6500_EA_GTC=1836,1951,513;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032738.3:utr-5,NM_001184873.1:utr-5,NM_001184872.1:utr-5,NM_001184871.1:utr-5,NM_001184870.1:utr-5,NM_001184867.1:utr-5,NM_001184866.1:utr-5;ESP6500_GL=FCRLA;ESP6500_GRCh38_POSITION=1:161707180;ESP6500_GTC=2616,3043,844;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032738.3:c.-34A>G,NM_001184873.1:c.-34A>G,NM_001184872.1:c.-34A>G,NM_001184871.1:c.-34A>G,NM_001184870.1:c.-34A>G,NM_001184867.1:c.-34A>G,NM_001184866.1:c.-34A>G;ESP6500_MAF=34.6163,39.8094,36.3755;ESP6500_TAC=8275,4731	GT:AD:DP:GQ:PL	1/1:0,23:23:69:768,69,0
chr1	161710623	rs112039702	GA	G	329.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.537;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.561;SOR=0.473;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs112039702;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|2/5|c.149-126delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|1/3|c.131-126delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|2/3|c.148+142delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/1|c.131-2451delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|1/2|c.131-1300delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|1/2|c.131-126delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|1/4|c.131-126delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=524;p3_1000G_AF=0.104633;p3_1000G_AFR_AF=0.1778;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=20591;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.0825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161680413;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0767;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,10:22:99:0|1:161710623_GA_G:367,0,622
chr1	161710642	rs17405152	A	G	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.78;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.594;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17405152;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|2/5|c.149-118A>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|1/3|c.131-118A>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|2/3|c.148+150A>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/1|c.131-2443A>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|1/2|c.131-1292A>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|1/2|c.131-118A>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|1/4|c.131-118A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=246;p3_1000G_AF=0.0491214;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=21339;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161680432;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,10:22:99:0|1:161710623_GA_G:381,0,634
chr1	161710728	rs61801161	T	A	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.267;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.821;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61801161;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|2/5|c.149-32T>A||||||,A|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|1/3|c.131-32T>A||||||,A|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|2/3|c.148+236T>A||||||,A|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/1|c.131-2357T>A||||||,A|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|1/2|c.131-1206T>A||||||,A|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|1/2|c.131-32T>A||||||,A|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|1/4|c.131-32T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=245;p3_1000G_AF=0.0489217;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=21298;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161680518;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=295,4111;ESP6500_AA_AGE=160.0+/-192.4;ESP6500_AA_GTC=12,271,1920;ESP6500_CDS_SIZES=NM_032738.3:1131,NM_001184873.1:579,NM_001184872.1:711,NM_001184871.1:426,NM_001184870.1:729,NM_001184867.1:864,NM_001184866.1:1149;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=37;ESP6500_EA_AC=467,8133;ESP6500_EA_AGE=136.7+/-193.7;ESP6500_EA_GTC=14,439,3847;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032738.3:intron,NM_001184873.1:intron,NM_001184872.1:intron,NM_001184871.1:intron,NM_001184870.1:intron,NM_001184867.1:intron,NM_001184866.1:intron;ESP6500_GL=FCRLA;ESP6500_GRCh38_POSITION=1:161710728;ESP6500_GTC=26,710,5767;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_032738.3:c.131-32T>A,NM_001184873.1:c.131-32T>A,NM_001184872.1:c.131-1206T>A,NM_001184871.1:c.131-2357T>A,NM_001184870.1:c.148+236T>A,NM_001184867.1:c.131-32T>A,NM_001184866.1:c.149-32T>A;ESP6500_MAF=5.4302,6.6954,5.8588;ESP6500_TAC=762,12244	GT:AD:DP:GQ:PL	0/1:13,11:24:99:335,0,402
chr1	161710996	rs12043179	T	C	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.76;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=-0.705;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12043179;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|3/5|c.301+84T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|2/3|c.283+84T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|2/3|c.148+504T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/1|c.131-2089T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|1/2|c.131-938T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|2/2|c.283+84T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|2/4|c.283+84T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=245;p3_1000G_AF=0.0489217;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=20462;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161680786;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,8:15:99:0|1:161710996_T_C:315,0,488
chr1	161711001	rs12043181	T	C	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.3;ReadPosRankSum=-0.89;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12043181;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|3/5|c.301+89T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|2/3|c.283+89T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|2/3|c.148+509T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/1|c.131-2084T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|1/2|c.131-933T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|2/2|c.283+89T>C||||||,C|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|2/4|c.283+89T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=245;p3_1000G_AF=0.0489217;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=20481;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161680791;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,9:16:99:0|1:161710996_T_C:337,0,485
chr1	161711871	rs1105238	C	G	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.587;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.972;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1105238;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|4/5|c.569-63C>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|2/3|c.284-63C>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|2/3|c.149-63C>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/1|c.131-1214C>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|1/2|c.131-63C>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|2/2|c.283+959C>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|3/4|c.551-63C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2249;p3_1000G_AF=0.449081;p3_1000G_AFR_AF=0.6619;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=21209;p3_1000G_EAS_AF=0.5734;p3_1000G_EUR_AF=0.2068;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161681661;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:256,0,307
chr1	161711990	rs2275603	A	G	789.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.182;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-1.921;SOR=0.791;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275603;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|5/6|c.625A>G|p.Ser209Gly|867/2363|625/1149|209/382||,G|missense_variant|MODERATE|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|3/4|c.340A>G|p.Ser114Gly|582/2078|340/864|114/287||,G|missense_variant|MODERATE|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|3/4|c.205A>G|p.Ser69Gly|447/1943|205/729|69/242||,G|missense_variant|MODERATE|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|2/3|c.187A>G|p.Ser63Gly|429/1925|187/711|63/236||,G|missense_variant|MODERATE|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|4/5|c.607A>G|p.Ser203Gly|849/2345|607/1131|203/376||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/1|c.131-1095A>G||||||,G|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|2/2|c.283+1078A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2389;p3_1000G_AF=0.477037;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=17754;p3_1000G_EAS_AF=0.5734;p3_1000G_EUR_AF=0.2078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161681780;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2903,1503;ESP6500_AA_AGE=477.0+/-357.8;ESP6500_AA_GTC=980,943,280;ESP6500_CDS_SIZES=NM_032738.3:1131,NM_001184873.1:579,NM_001184872.1:711,NM_001184871.1:426,NM_001184870.1:729,NM_001184867.1:864,NM_001184866.1:1149;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=135;ESP6500_EA_AC=1882,6718;ESP6500_EA_AGE=726.9+/-406.6;ESP6500_EA_GTC=220,1442,2638;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032738.3:missense,NM_001184873.1:intron,NM_001184872.1:missense,NM_001184871.1:intron,NM_001184870.1:missense,NM_001184867.1:missense,NM_001184866.1:missense;ESP6500_GL=FCRLA;ESP6500_GRCh38_POSITION=1:161711990;ESP6500_GS=56,.,56,.,56,56,56;ESP6500_GTC=1200,2385,2918;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032738.3:c.607A>G,NM_001184873.1:c.283+1078A>G,NM_001184872.1:c.187A>G,NM_001184871.1:c.131-1095A>G,NM_001184870.1:c.205A>G,NM_001184867.1:c.340A>G,NM_001184866.1:c.625A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032738.3:p.(S203G),.,NM_001184872.1:p.(S63G),.,NM_001184870.1:p.(S69G),NM_001184867.1:p.(S114G),NM_001184866.1:p.(S209G);ESP6500_MAF=21.8837,34.1126,36.7907;ESP6500_PH=benign:0.001,.,benign:0.001,.,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=4785,8221	GT:AD:DP:GQ:PL	0/1:29,33:62:99:818,0,709
chr1	161712058	rs4301614	C	T	524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.89;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-0.021;SOR=0.798;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4301614;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|FCRLA|FCRLA|transcript|NM_001184866.1|protein_coding|5/6|c.693C>T|p.Ser231Ser|935/2363|693/1149|231/382||,T|synonymous_variant|LOW|FCRLA|FCRLA|transcript|NM_001184867.1|protein_coding|3/4|c.408C>T|p.Ser136Ser|650/2078|408/864|136/287||,T|synonymous_variant|LOW|FCRLA|FCRLA|transcript|NM_001184870.1|protein_coding|3/4|c.273C>T|p.Ser91Ser|515/1943|273/729|91/242||,T|synonymous_variant|LOW|FCRLA|FCRLA|transcript|NM_001184872.1|protein_coding|2/3|c.255C>T|p.Ser85Ser|497/1925|255/711|85/236||,T|synonymous_variant|LOW|FCRLA|FCRLA|transcript|NM_032738.3|protein_coding|4/5|c.675C>T|p.Ser225Ser|917/2345|675/1131|225/376||,T|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184871.1|protein_coding|1/1|c.131-1027C>T||||||,T|intron_variant|MODIFIER|FCRLA|FCRLA|transcript|NM_001184873.1|protein_coding|2/2|c.284-1027C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=157;p3_1000G_AF=0.0313498;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=17775;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161681848;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=44,4362;ESP6500_AA_AGE=48.2+/-83.0;ESP6500_AA_GTC=0,44,2159;ESP6500_CDS_SIZES=NM_032738.3:1131,NM_001184873.1:579,NM_001184872.1:711,NM_001184871.1:426,NM_001184870.1:729,NM_001184867.1:864,NM_001184866.1:1149;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=74;ESP6500_EA_AC=464,8136;ESP6500_EA_AGE=137.3+/-194.3;ESP6500_EA_GTC=14,436,3850;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032738.3:coding-synonymous,NM_001184873.1:intron,NM_001184872.1:coding-synonymous,NM_001184871.1:intron,NM_001184870.1:coding-synonymous,NM_001184867.1:coding-synonymous,NM_001184866.1:coding-synonymous;ESP6500_GL=FCRLA;ESP6500_GRCh38_POSITION=1:161712058;ESP6500_GTC=14,480,6009;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032738.3:c.675C>T,NM_001184873.1:c.284-1027C>T,NM_001184872.1:c.255C>T,NM_001184871.1:c.131-1027C>T,NM_001184870.1:c.273C>T,NM_001184867.1:c.408C>T,NM_001184866.1:c.693C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032738.3:p.(S225),.,NM_001184872.1:p.(S85),.,NM_001184870.1:p.(S91),NM_001184867.1:p.(S136),NM_001184866.1:p.(S231);ESP6500_MAF=5.3953,0.9986,3.9059;ESP6500_TAC=508,12498	GT:AD:DP:GQ:PL	0/1:35,21:56:99:553,0,1045
chr1	161725849	rs7520519	G	T	1972.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7520519;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|FCRLB|FCRLB|transcript|NM_001002901.3|protein_coding|6/8|c.336G>T|p.Ala112Ala|570/1996|336/1281|112/426||,T|synonymous_variant|LOW|FCRLB|FCRLB|transcript|NM_001320241.1|protein_coding|5/7|c.336G>T|p.Ala112Ala|384/1810|336/1281|112/426||,T|synonymous_variant|LOW|FCRLB|FCRLB|transcript|NM_001288829.1|protein_coding|4/6|c.336G>T|p.Ala112Ala|356/1637|336/957|112/318||,T|synonymous_variant|LOW|FCRLB|FCRLB|transcript|NM_001288830.1|protein_coding|3/5|c.315G>T|p.Ala105Ala|335/1616|315/936|105/311||,T|synonymous_variant|LOW|FCRLB|FCRLB|transcript|NM_001288831.1|protein_coding|4/6|c.336G>T|p.Ala112Ala|356/1678|336/828|112/275||,T|synonymous_variant|LOW|FCRLB|FCRLB|transcript|NM_001288832.1|protein_coding|3/5|c.315G>T|p.Ala105Ala|335/1657|315/807|105/268||;p3_1000G_AA=T|||;p3_1000G_AC=4646;p3_1000G_AF=0.927716;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=16659;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161695639;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4272,134;ESP6500_AA_AGE=97.1+/-135.8;ESP6500_AA_GTC=2071,130,2;ESP6500_CDS_SIZES=NM_001002901.2:1281;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=98;ESP6500_EA_AC=7454,1146;ESP6500_EA_AGE=235.7+/-268.2;ESP6500_EA_GTC=3241,972,87;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001002901.2:coding-synonymous;ESP6500_GL=FCRLB;ESP6500_GRCh38_POSITION=1:161725849;ESP6500_GTC=5312,1102,89;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001002901.2:c.336G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001002901.2:p.(A112);ESP6500_MAF=13.3256,3.0413,9.8416;ESP6500_TAC=11726,1280	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2001,180,0
chr1	161727282	rs72704099	G	C	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.476;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.05;ReadPosRankSum=0.08;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72704099;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|FCRLB|FCRLB|transcript|NM_001002901.3|protein_coding|8/8|c.901G>C|p.Ala301Pro|1135/1996|901/1281|301/426||,C|missense_variant|MODERATE|FCRLB|FCRLB|transcript|NM_001320241.1|protein_coding|7/7|c.901G>C|p.Ala301Pro|949/1810|901/1281|301/426||,C|missense_variant|MODERATE|FCRLB|FCRLB|transcript|NM_001288829.1|protein_coding|6/6|c.756G>C|p.Gln252His|776/1637|756/957|252/318||,C|missense_variant|MODERATE|FCRLB|FCRLB|transcript|NM_001288830.1|protein_coding|5/5|c.735G>C|p.Gln245His|755/1616|735/936|245/311||,C|missense_variant|MODERATE|FCRLB|FCRLB|transcript|NM_001288831.1|protein_coding|6/6|c.797G>C|p.Ser266Thr|817/1678|797/828|266/275||,C|missense_variant|MODERATE|FCRLB|FCRLB|transcript|NM_001288832.1|protein_coding|5/5|c.776G>C|p.Ser259Thr|796/1657|776/807|259/268||;p3_1000G_AA=G|||;p3_1000G_AC=1565;p3_1000G_AF=0.3125;p3_1000G_AFR_AF=0.652;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=10331;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.0606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161697072;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2396,2008;ESP6500_AA_GTC=660,1076,466;ESP6500_CDS_SIZES=NM_001002901.2:1281;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=23;ESP6500_EA_AC=679,7917;ESP6500_EA_GTC=22,635,3641;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001002901.2:missense;ESP6500_GL=FCRLB;ESP6500_GRCh38_POSITION=1:161727282;ESP6500_GS=27;ESP6500_GTC=682,1711,4107;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001002901.2:c.901G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001002901.2:p.(A301P);ESP6500_MAF=7.899,45.5949,23.6538;ESP6500_PH=possibly-damaging:0.879;ESP6500_TAC=3075,9925	GT:AD:DP:GQ:PL	0/1:6,10:16:99:333,0,203
chr1	161727359	rs16858529	G	T	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.238;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.186;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16858529;dbSNPBuildID=123;ANN=T|missense_variant|MODERATE|FCRLB|FCRLB|transcript|NM_001288829.1|protein_coding|6/6|c.833G>T|p.Arg278Leu|853/1637|833/957|278/318||,T|missense_variant|MODERATE|FCRLB|FCRLB|transcript|NM_001288830.1|protein_coding|5/5|c.812G>T|p.Arg271Leu|832/1616|812/936|271/311||,T|synonymous_variant|LOW|FCRLB|FCRLB|transcript|NM_001002901.3|protein_coding|8/8|c.978G>T|p.Pro326Pro|1212/1996|978/1281|326/426||,T|synonymous_variant|LOW|FCRLB|FCRLB|transcript|NM_001320241.1|protein_coding|7/7|c.978G>T|p.Pro326Pro|1026/1810|978/1281|326/426||,T|3_prime_UTR_variant|MODIFIER|FCRLB|FCRLB|transcript|NM_001288831.1|protein_coding|6/6|c.*46G>T|||||46|,T|3_prime_UTR_variant|MODIFIER|FCRLB|FCRLB|transcript|NM_001288832.1|protein_coding|5/5|c.*46G>T|||||46|;p3_1000G_AA=G|||;p3_1000G_AC=553;p3_1000G_AF=0.110423;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=9806;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161697149;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=291,4115;ESP6500_AA_GTC=11,269,1923;ESP6500_CDS_SIZES=NM_001002901.2:1281;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=21;ESP6500_EA_AC=227,8367;ESP6500_EA_GTC=4,219,4074;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001002901.2:coding-synonymous;ESP6500_GL=FCRLB;ESP6500_GRCh38_POSITION=1:161727359;ESP6500_GTC=15,488,5997;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001002901.2:c.978G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001002901.2:p.(P326);ESP6500_MAF=2.6414,6.6046,3.9846;ESP6500_TAC=518,12482	GT:AD:DP:GQ:PL	0/1:15,23:38:99:576,0,351
chr1	161727757	rs12044611	T	C	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.283;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.623;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12044611;dbSNPBuildID=120;ANN=C|3_prime_UTR_variant|MODIFIER|FCRLB|FCRLB|transcript|NM_001002901.3|protein_coding|8/8|c.*95T>C|||||95|,C|3_prime_UTR_variant|MODIFIER|FCRLB|FCRLB|transcript|NM_001320241.1|protein_coding|7/7|c.*95T>C|||||95|,C|3_prime_UTR_variant|MODIFIER|FCRLB|FCRLB|transcript|NM_001288829.1|protein_coding|6/6|c.*274T>C|||||274|,C|3_prime_UTR_variant|MODIFIER|FCRLB|FCRLB|transcript|NM_001288830.1|protein_coding|5/5|c.*274T>C|||||274|,C|3_prime_UTR_variant|MODIFIER|FCRLB|FCRLB|transcript|NM_001288831.1|protein_coding|6/6|c.*444T>C|||||444|,C|3_prime_UTR_variant|MODIFIER|FCRLB|FCRLB|transcript|NM_001288832.1|protein_coding|5/5|c.*444T>C|||||444|;p3_1000G_AA=T|||;p3_1000G_AC=152;p3_1000G_AF=0.0303514;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=18266;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161697547;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:163,0,197
chr1	161751561	rs7540096	A	G	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.48;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.464;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7540096;dbSNPBuildID=116;ANN=G|sequence_feature|LOW|DUSP12|DUSP12|active-site:Phosphocysteine_intermediate|NM_007240.2|protein_coding|1/5|c.345-107A>G||||||,G|intron_variant|MODIFIER|DUSP12|DUSP12|transcript|NM_007240.2|protein_coding|1/5|c.345-107A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2912;p3_1000G_AF=0.58147;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=15345;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.3946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161721351;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:172,0,265
chr1	161752414	rs1063179	C	T	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.004;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=1.79;SOR=0.79;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1063179;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|DUSP12|DUSP12|transcript|NM_007240.2|protein_coding|4/6|c.624C>T|p.Thr208Thr|658/1274|624/1023|208/340||;p3_1000G_AA=C|||;p3_1000G_AC=855;p3_1000G_AF=0.170727;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=16390;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.0507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161722204;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1462,2944;ESP6500_AA_AGE=464.2+/-353.8;ESP6500_AA_GTC=248,966,989;ESP6500_CDS_SIZES=NM_007240.1:1023;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=118;ESP6500_EA_AC=391,8207;ESP6500_EA_AGE=125.5+/-184.1;ESP6500_EA_GTC=10,371,3918;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007240.1:coding-synonymous;ESP6500_GL=DUSP12;ESP6500_GRCh38_POSITION=1:161752414;ESP6500_GTC=258,1337,4907;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007240.1:c.624C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007240.1:p.(T208);ESP6500_MAF=4.5476,33.182,14.2495;ESP6500_TAC=1853,11151	GT:AD:DP:GQ:PL	0/1:16,25:41:99:528,0,389
chr1	161752989	rs35439833;rs386368499;rs397824675	C	CAAA	71.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.908;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-0.199;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35439833,rs369176399;dbSNPBuildID=126,138,138;ANN=CAAA|intron_variant|MODIFIER|DUSP12|DUSP12|transcript|NM_007240.2|protein_coding|4/5|c.675-78_675-76dupAAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2975;p3_1000G_AF=0.59405;p3_1000G_AFR_AF=0.6899;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=23930;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161722779;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,3:11:99:109,0,312
chr1	161766245	rs2298019	A	G	229.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2298019;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|ATF6|ATF6|transcript|NM_007348.3|protein_coding|1/16|c.-116A>G|||||116|;p3_1000G_AA=G|||;p3_1000G_AC=4569;p3_1000G_AF=0.91234;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=16287;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.8897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161736035;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:258,21,0
chr1	161778266	rs2070151	C	T	613.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.59;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.054;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2070151;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|ATF6|ATF6|transcript|NM_007348.3|protein_coding|2/16|c.105C>T|p.Leu35Leu|222/7546|105/2013|35/670||;p3_1000G_AA=C|||;p3_1000G_AC=951;p3_1000G_AF=0.189896;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=22173;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161748056;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=613,3793;ESP6500_AA_AGE=267.1+/-267.6;ESP6500_AA_GTC=48,517,1638;ESP6500_CDS_SIZES=NM_007348.3:2013;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=104;ESP6500_EA_AC=636,7964;ESP6500_EA_AGE=162.6+/-215.3;ESP6500_EA_GTC=28,580,3692;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007348.3:coding-synonymous;ESP6500_GL=ATF6;ESP6500_GRCh38_POSITION=1:161778266;ESP6500_GTC=76,1097,5330;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007348.3:c.105C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007348.3:p.(L35);ESP6500_MAF=7.3953,13.9128,9.6033;ESP6500_TAC=1249,11757	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,26:40:99:1|0:161778256_T_C:642,0,381
chr1	161784012	rs2271013	T	C	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.21;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.51;ReadPosRankSum=0.455;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271013;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|ATF6|ATF6|transcript|NM_007348.3|protein_coding|4/16|c.270T>C|p.Pro90Pro|387/7546|270/2013|90/670||;p3_1000G_AA=T|||;p3_1000G_AC=797;p3_1000G_AF=0.159145;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=17966;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161753802;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=259,4147;ESP6500_AA_AGE=145.0+/-179.8;ESP6500_AA_GTC=8,243,1952;ESP6500_CDS_SIZES=NM_007348.3:2013;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=143;ESP6500_EA_AC=626,7974;ESP6500_EA_AGE=158.2+/-211.7;ESP6500_EA_GTC=27,572,3701;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007348.3:coding-synonymous;ESP6500_GL=ATF6;ESP6500_GRCh38_POSITION=1:161784012;ESP6500_GTC=35,815,5653;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007348.3:c.270T>C;ESP6500_HGVS_PROTEIN_VAR=NM_007348.3:p.(P90);ESP6500_MAF=7.2791,5.8783,6.8046;ESP6500_TAC=885,12121	GT:AD:DP:GQ:PL	0/1:19,6:25:99:141,0,495
chr1	161784051	rs2271012	G	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.78;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.19;ReadPosRankSum=1.17;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271012;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|ATF6|ATF6|transcript|NM_007348.3|protein_coding|4/16|c.309G>A|p.Ser103Ser|426/7546|309/2013|103/670||;p3_1000G_AA=G|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=17860;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161753841;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=573,3833;ESP6500_AA_AGE=255.2+/-260.5;ESP6500_AA_GTC=39,495,1669;ESP6500_CDS_SIZES=NM_007348.3:2013;ESP6500_CG=-8.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=158;ESP6500_EA_AC=633,7967;ESP6500_EA_AGE=162.6+/-215.3;ESP6500_EA_GTC=28,577,3695;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007348.3:coding-synonymous;ESP6500_GL=ATF6;ESP6500_GRCh38_POSITION=1:161784051;ESP6500_GTC=67,1072,5364;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007348.3:c.309G>A;ESP6500_HGVS_PROTEIN_VAR=NM_007348.3:p.(S103);ESP6500_MAF=7.3605,13.005,9.2726;ESP6500_TAC=1206,11800	GT:AD:DP:GQ:PL	0/1:22,9:31:99:189,0,625
chr1	161784127	rs1910480	G	C	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.832;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.775;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.84;SOR=0.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1910480;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|ATF6|ATF6|transcript|NM_007348.3|protein_coding|4/15|c.354+31G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=18687;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161753917;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=573,3833;ESP6500_AA_AGE=250.3+/-257.4;ESP6500_AA_GTC=39,495,1669;ESP6500_CDS_SIZES=NM_007348.3:2013;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=73;ESP6500_EA_AC=630,7970;ESP6500_EA_AGE=160.1+/-213.3;ESP6500_EA_GTC=28,574,3698;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007348.3:intron;ESP6500_GL=ATF6;ESP6500_GRCh38_POSITION=1:161784127;ESP6500_GTC=67,1069,5367;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007348.3:c.354+31G>C;ESP6500_MAF=7.3256,13.005,9.2496;ESP6500_TAC=1203,11803	GT:AD:DP:GQ:PL	0/1:18,8:26:99:156,0,539
chr1	161784214	rs1503807	T	A	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.424;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=0.905;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1503807;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ATF6|ATF6|transcript|NM_007348.3|protein_coding|4/15|c.354+118T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1035;p3_1000G_AF=0.206669;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=19780;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.0815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161754004;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:148,0,361
chr1	161791309	rs12045480	C	T	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12045480;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ATF6|ATF6|transcript|NM_007348.3|protein_coding|4/15|c.355-99C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1035;p3_1000G_AF=0.206669;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=17434;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161761099;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:65:65,0,68
chr1	161791486	rs2070150	G	C	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.725;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.59;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2070150;dbSNPBuildID=96;ANN=C|missense_variant|MODERATE|ATF6|ATF6|transcript|NM_007348.3|protein_coding|5/16|c.433G>C|p.Ala145Pro|550/7546|433/2013|145/670||;p3_1000G_AA=G|||;p3_1000G_AC=797;p3_1000G_AF=0.159145;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=15886;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161761276;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=261,4145;ESP6500_AA_AGE=149.5+/-183.7;ESP6500_AA_GTC=8,245,1950;ESP6500_CDS_SIZES=NM_007348.3:2013;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=126;ESP6500_EA_AC=629,7971;ESP6500_EA_AGE=162.0+/-214.8;ESP6500_EA_GTC=27,575,3698;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007348.3:missense;ESP6500_GL=ATF6;ESP6500_GRCh38_POSITION=1:161791486;ESP6500_GS=27;ESP6500_GTC=35,820,5648;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007348.3:c.433G>C;ESP6500_HGVS_PROTEIN_VAR=NM_007348.3:p.(A145P);ESP6500_MAF=7.314,5.9237,6.843;ESP6500_PH=benign:0.0;ESP6500_TAC=890,12116	GT:AD:DP:GQ:PL	0/1:10,11:21:99:262,0,256
chr1	161791522	rs1135983	C	T	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.049;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=2.57;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1135983;dbSNPBuildID=102;ANN=T|missense_variant|MODERATE|ATF6|ATF6|transcript|NM_007348.3|protein_coding|5/16|c.469C>T|p.Pro157Ser|586/7546|469/2013|157/670||;p3_1000G_AA=C|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=16463;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161761312;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=573,3833;ESP6500_AA_AGE=255.2+/-260.5;ESP6500_AA_GTC=39,495,1669;ESP6500_CDS_SIZES=NM_007348.3:2013;ESP6500_CG=3.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=137;ESP6500_EA_AC=633,7967;ESP6500_EA_AGE=162.5+/-215.2;ESP6500_EA_GTC=28,577,3695;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007348.3:missense;ESP6500_GL=ATF6;ESP6500_GRCh38_POSITION=1:161791522;ESP6500_GS=74;ESP6500_GTC=67,1072,5364;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007348.3:c.469C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007348.3:p.(P157S);ESP6500_MAF=7.3605,13.005,9.2726;ESP6500_PH=benign:0.031;ESP6500_TAC=1206,11800	GT:AD:DP:GQ:PL	0/1:12,10:22:99:211,0,266
chr1	161819835	rs3817085	C	G	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.47;ReadPosRankSum=0.319;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3817085;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ATF6|ATF6|transcript|NM_007348.3|protein_coding|8/15|c.1095+17C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1035;p3_1000G_AF=0.206669;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=15821;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.0815;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161789625;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=790,3616;ESP6500_AA_AGE=740.5+/-411.2;ESP6500_AA_GTC=74,642,1487;ESP6500_CDS_SIZES=NM_007348.3:2013;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=774,7826;ESP6500_EA_AGE=778.9+/-407.7;ESP6500_EA_GTC=42,690,3568;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007348.3:intron;ESP6500_GL=ATF6;ESP6500_GRCh38_POSITION=1:161819835;ESP6500_GTC=116,1332,5055;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_007348.3:c.1095+17C>G;ESP6500_MAF=9.0,17.9301,12.0252;ESP6500_TAC=1564,11442	GT:AD:DP:GQ:PL	0/1:6,2:8:56:56,0,177
chr1	161846318	rs12405289	G	T	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=1.04;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12405289;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ATF6|ATF6|transcript|NM_007348.3|protein_coding|9/15|c.1188-131G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1019;p3_1000G_AF=0.203474;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=19475;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161816108;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:64:64,0,95
chr1	161853169	rs2340717	C	T	59.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2340717;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ATF6|ATF6|transcript|NM_007348.3|protein_coding|11/15|c.1434-55C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4838;p3_1000G_AF=0.966054;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=16168;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161822959;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:87,9,0
chr1	161958537	rs9482	A	G	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.83;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=-1.912;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9482;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|ATF6|ATF6|transcript|NM_007348.3|protein_coding|16/16|c.1896A>G|p.Ser632Ser|2013/7546|1896/2013|632/670||;p3_1000G_AA=A|||;p3_1000G_AC=2798;p3_1000G_AF=0.558706;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=19775;p3_1000G_EAS_AF=0.506;p3_1000G_EUR_AF=0.7763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161928327;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2039,2367;ESP6500_AA_AGE=566.0+/-381.8;ESP6500_AA_GTC=455,1129,619;ESP6500_CDS_SIZES=NM_007348.3:2013;ESP6500_CG=-11.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=162;ESP6500_EA_AC=6408,2192;ESP6500_EA_AGE=711.9+/-405.9;ESP6500_EA_GTC=2396,1616,288;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007348.3:coding-synonymous;ESP6500_GL=ATF6;ESP6500_GRCh38_POSITION=1:161958537;ESP6500_GTC=2851,2745,907;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007348.3:c.1896A>G;ESP6500_HGVS_PROTEIN_VAR=NM_007348.3:p.(S632);ESP6500_MAF=25.4884,46.2778,35.0531;ESP6500_TAC=8447,4559	GT:AD:DP:GQ:PL	0/1:32,20:52:99:434,0,754
chr1	161983612	rs12407643	G	A	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.407;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.53;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12407643;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|OLFML2B|OLFML2B|transcript|NM_001297713.1|protein_coding|8/8|c.*63C>T|||||63|,A|3_prime_UTR_variant|MODIFIER|OLFML2B|OLFML2B|transcript|NM_015441.2|protein_coding|8/8|c.*63C>T|||||63|;p3_1000G_AA=G|||;p3_1000G_AC=387;p3_1000G_AF=0.0772764;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=19813;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161953402;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:398,0,393
chr1	161997891	rs2499836	A	G	1812.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.37;SOR=1.412;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2499836;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|OLFML2B|OLFML2B|transcript|NM_001297713.1|protein_coding|6/8|c.1411T>C|p.Trp471Arg|2446/3774|1411/2256|471/751||,G|missense_variant|MODERATE|OLFML2B|OLFML2B|transcript|NM_015441.2|protein_coding|6/8|c.1408T>C|p.Trp470Arg|2443/3771|1408/2253|470/750||;p3_1000G_AA=G|||;p3_1000G_AC=3171;p3_1000G_AF=0.633187;p3_1000G_AFR_AF=0.5756;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=20141;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.671;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161967681;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2653,1753;ESP6500_AA_AGE=521.4+/-370.5;ESP6500_AA_GTC=802,1049,352;ESP6500_CDS_SIZES=NM_015441.1:2253;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=5855,2745;ESP6500_EA_AGE=437.6+/-358.7;ESP6500_EA_GTC=1997,1861,442;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015441.1:missense;ESP6500_GL=OLFML2B;ESP6500_GRCh38_POSITION=1:161997891;ESP6500_GS=101;ESP6500_GTC=2799,2910,794;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015441.1:c.1408T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015441.1:p.(W470R);ESP6500_MAF=31.9186,39.7867,34.584;ESP6500_PH=benign:0.0;ESP6500_TAC=8508,4498	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1841,168,0
chr1	162006444	rs12022536	A	G	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.786;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.31;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12022536;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|OLFML2B|OLFML2B|transcript|NM_001297713.1|protein_coding|4/8|c.576T>C|p.Asn192Asn|1611/3774|576/2256|192/751||,G|synonymous_variant|LOW|OLFML2B|OLFML2B|transcript|NM_015441.2|protein_coding|4/8|c.576T>C|p.Asn192Asn|1611/3771|576/2253|192/750||;p3_1000G_AA=G|||;p3_1000G_AC=2958;p3_1000G_AF=0.590655;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=20658;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.8201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161976234;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2251,2155;ESP6500_AA_AGE=581.3+/-385.3;ESP6500_AA_GTC=580,1091,532;ESP6500_CDS_SIZES=NM_015441.1:2253;ESP6500_CG=-8.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=139;ESP6500_EA_AC=7080,1520;ESP6500_EA_AGE=287.3+/-298.2;ESP6500_EA_GTC=2917,1246,137;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015441.1:coding-synonymous;ESP6500_GL=OLFML2B;ESP6500_GRCh38_POSITION=1:162006444;ESP6500_GTC=3497,2337,669;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015441.1:c.576T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015441.1:p.(N192);ESP6500_MAF=17.6744,48.9106,28.2562;ESP6500_TAC=9331,3675	GT:AD:DP:GQ:PL	0/1:12,8:20:99:201,0,308
chr1	162006482	rs34863451	G	GA	328.82	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.782;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=21.92;ReadPosRankSum=1.28;SOR=0.527;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34863451;dbSNPBuildID=126;ANN=GA|intron_variant|MODIFIER|OLFML2B|OLFML2B|transcript|NM_001297713.1|protein_coding|3/7|c.547-10dupT||||||,GA|intron_variant|MODIFIER|OLFML2B|OLFML2B|transcript|NM_015441.2|protein_coding|3/7|c.547-10dupT||||||;p3_1000G_AC=3653;p3_1000G_AF=0.729433;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=19854;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.8082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161976272;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,14:15:17:366,17,0
chr1	162023402	rs12130792	T	C	667.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.916;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-0.015;SOR=0.628;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12130792;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|OLFML2B|OLFML2B|transcript|NM_001297713.1|protein_coding|1/8|c.29A>G|p.Tyr10Cys|1064/3774|29/2256|10/751||,C|missense_variant|MODERATE|OLFML2B|OLFML2B|transcript|NM_015441.2|protein_coding|1/8|c.29A>G|p.Tyr10Cys|1064/3771|29/2253|10/750||;p3_1000G_AA=T|||;p3_1000G_AC=488;p3_1000G_AF=0.0974441;p3_1000G_AFR_AF=0.1604;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=17425;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.0726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161993192;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=629,3777;ESP6500_AA_AGE=269.5+/-269.1;ESP6500_AA_GTC=50,529,1624;ESP6500_CDS_SIZES=NM_015441.1:2253;ESP6500_CG=2.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=56;ESP6500_EA_AC=648,7952;ESP6500_EA_AGE=165.9+/-218.0;ESP6500_EA_GTC=23,602,3675;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015441.1:missense;ESP6500_GL=OLFML2B;ESP6500_GRCh38_POSITION=1:162023402;ESP6500_GS=194;ESP6500_GTC=73,1131,5299;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015441.1:c.29A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015441.1:p.(Y10C);ESP6500_MAF=7.5349,14.276,9.8185;ESP6500_PH=benign:0.0;ESP6500_TAC=1277,11729	GT:AD:DP:GQ:PL	0/1:20,27:47:99:696,0,423
chr1	162287243	rs10800405	C	G	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.083;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.796;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-0.608;SOR=0.129;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10800405;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding|2/9|c.178-101C>G||||||,G|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding|2/9|c.178-101C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1921;p3_1000G_AF=0.383586;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19299;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.2614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162257033;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:156,0,288
chr1	162332899	rs347307	C	T	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.549;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=-0.591;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs347307;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding|4/9|c.345-118C>T||||||,T|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding|4/9|c.330-118C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1667;p3_1000G_AF=0.332867;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=21145;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.5477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162302689;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,5:16:99:139,0,421
chr1	162343728	rs3751285	A	G	322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.2;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.714;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3751285;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|MIR556|MIR556|transcript|NR_030283.1|pseudogene||n.*1088A>G|||||1088|,G|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding|5/9|c.454-107A>G||||||,G|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding|5/9|c.439-107A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1775;p3_1000G_AF=0.354433;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=22005;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162313518;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,10:25:99:351,0,506
chr1	162343807	rs347278	T	C	1835.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.25;SOR=1.702;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs347278;dbSNPBuildID=79;ANN=C|downstream_gene_variant|MODIFIER|MIR556|MIR556|transcript|NR_030283.1|pseudogene||n.*1167T>C|||||1167|,C|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding|5/9|c.454-28T>C||||||,C|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding|5/9|c.439-28T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4637;p3_1000G_AF=0.925919;p3_1000G_AFR_AF=0.761;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=20198;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9781;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162313597;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9888;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3515,891;ESP6500_AA_AGE=343.3+/-307.6;ESP6500_AA_GTC=1417,681,105;ESP6500_CDS_SIZES=NM_014697.2:1521,NM_001164757.1:1506;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=72;ESP6500_EA_AC=8442,158;ESP6500_EA_AGE=76.3+/-139.0;ESP6500_EA_GTC=4142,158,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014697.2:intron,NM_001164757.1:intron;ESP6500_GL=NOS1AP;ESP6500_GRCh38_POSITION=1:162343807;ESP6500_GTC=5559,839,105;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014697.2:c.454-28T>C,NM_001164757.1:c.439-28T>C;ESP6500_MAF=1.8372,20.2224,8.0655;ESP6500_TAC=11957,1049	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1864,153,0
chr1	162343945	rs3751284	C	T	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.314;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.107;SOR=0.596;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3751284;dbSNPBuildID=107;ANN=T|sequence_feature|MODERATE|NOS1AP|NOS1AP|modified-residue:Phosphoserine|NM_014697.2|protein_coding|6/10|c.564C>T||||||,T|sequence_feature|MODERATE|NOS1AP|NOS1AP|modified-residue:Phosphoserine|NM_001164757.1|protein_coding|6/10|c.549C>T||||||,T|synonymous_variant|LOW|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding|6/10|c.564C>T|p.Ser188Ser|951/4464|564/1521|188/506||,T|synonymous_variant|LOW|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding|6/10|c.549C>T|p.Ser183Ser|936/4449|549/1506|183/501||,T|downstream_gene_variant|MODIFIER|MIR556|MIR556|transcript|NR_030283.1|pseudogene||n.*1305C>T|||||1305|;p3_1000G_AA=T|||;p3_1000G_AC=2158;p3_1000G_AF=0.430911;p3_1000G_AFR_AF=0.2829;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=16087;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.3549;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162313735;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1277,3129;ESP6500_AA_AGE=700.4+/-406.6;ESP6500_AA_GTC=188,901,1114;ESP6500_CDS_SIZES=NM_014697.2:1521,NM_001164757.1:1506;ESP6500_CG=-8.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=108;ESP6500_EA_AC=3071,5529;ESP6500_EA_AGE=661.4+/-401.9;ESP6500_EA_GTC=550,1971,1779;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014697.2:coding-synonymous,NM_001164757.1:coding-synonymous;ESP6500_GL=NOS1AP;ESP6500_GRCh38_POSITION=1:162343945;ESP6500_GTC=738,2872,2893;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014697.2:c.564C>T,NM_001164757.1:c.549C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014697.2:p.(S188),NM_001164757.1:p.(S183);ESP6500_MAF=35.7093,28.9832,33.4307;ESP6500_TAC=4348,8658	GT:AD:DP:GQ:PL	0/1:23,25:48:99:638,0,671
chr1	162365262	rs905721	C	T	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.04;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=-0.523;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs905721;dbSNPBuildID=86;ANN=T|5_prime_UTR_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001126060.1|protein_coding|1/2|c.-88C>T|||||88|,T|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding|8/9|c.940-142C>T||||||,T|intron_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding|8/9|c.925-142C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1580;p3_1000G_AF=0.315495;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=22166;p3_1000G_EAS_AF=0.5437;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162335052;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:379,0,201
chr1	162373984	rs7512126	A	G	24.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.153;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.25;ReadPosRankSum=1.25;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7512126;dbSNPBuildID=116;ANN=G|3_prime_UTR_variant|MODIFIER|C1orf111|C1orf111|transcript|NM_182581.3|protein_coding|3/3|c.*64T>C|||||64|,G|upstream_gene_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding||c.-4930A>G|||||4922|,G|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding||c.*6517A>G|||||3961|,G|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding||c.*6517A>G|||||3961|,G|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001126060.1|protein_coding||c.*6517A>G|||||3961|;p3_1000G_AA=A|||;p3_1000G_AC=1768;p3_1000G_AF=0.353035;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=20352;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.4115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162343774;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:53:53,0,212
chr1	162374312	rs2282397	C	T	604.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.737;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=1.82;SOR=0.794;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282397;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|C1orf111|C1orf111|transcript|NM_182581.3|protein_coding|3/3|c.522G>A|p.Arg174Arg|586/1173|522/786|174/261||,T|upstream_gene_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding||c.-4602C>T|||||4594|,T|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding||c.*6845C>T|||||4289|,T|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding||c.*6845C>T|||||4289|,T|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001126060.1|protein_coding||c.*6845C>T|||||4289|;p3_1000G_AA=C|||;p3_1000G_AC=1705;p3_1000G_AF=0.340455;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=19892;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.3817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162344102;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=965,3441;ESP6500_AA_AGE=363.6+/-316.6;ESP6500_AA_GTC=114,737,1352;ESP6500_CDS_SIZES=NM_182581.3:786;ESP6500_CG=4.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=183;ESP6500_EA_AC=3228,5372;ESP6500_EA_AGE=485.5+/-371.6;ESP6500_EA_GTC=604,2020,1676;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182581.3:coding-synonymous;ESP6500_GL=C1orf111;ESP6500_GRCh38_POSITION=1:162374312;ESP6500_GTC=718,2757,3028;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182581.3:c.522G>A;ESP6500_HGVS_PROTEIN_VAR=NM_182581.3:p.(R174);ESP6500_MAF=37.5349,21.902,32.239;ESP6500_TAC=4193,8813	GT:AD:DP:GQ:PL	0/1:41,26:67:99:633,0,1108
chr1	162374600	rs164159	A	G	1730.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.62;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs164159;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|C1orf111|C1orf111|transcript|NM_182581.3|protein_coding|3/3|c.234T>C|p.Asp78Asp|298/1173|234/786|78/261||,G|upstream_gene_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding||c.-4314A>G|||||4306|,G|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_014697.2|protein_coding||c.*7133A>G|||||4577|,G|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001164757.1|protein_coding||c.*7133A>G|||||4577|,G|downstream_gene_variant|MODIFIER|NOS1AP|NOS1AP|transcript|NM_001126060.1|protein_coding||c.*7133A>G|||||4577|;p3_1000G_AA=G|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19016;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162344390;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4349,57;ESP6500_AA_AGE=56.2+/-92.4;ESP6500_AA_GTC=2146,57,0;ESP6500_CDS_SIZES=NM_182581.3:786;ESP6500_CG=4.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=61;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182581.3:coding-synonymous;ESP6500_GL=C1orf111;ESP6500_GRCh38_POSITION=1:162374600;ESP6500_GTC=6444,59,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182581.3:c.234T>C;ESP6500_HGVS_PROTEIN_VAR=NM_182581.3:p.(D78);ESP6500_MAF=0.0233,1.2937,0.4536;ESP6500_TAC=12947,59	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1759,150,0
chr1	162375301	rs164181	G	A	1692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.69;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs164181;dbSNPBuildID=79;ANN=A|missense_variant|MODERATE|C1orf111|C1orf111|transcript|NM_182581.3|protein_coding|2/3|c.206C>T|p.Ala69Val|270/1173|206/786|69/261||,A|upstream_gene_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding||c.-3613G>A|||||3605|;p3_1000G_AA=A|||;p3_1000G_AC=4700;p3_1000G_AF=0.938498;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=20379;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162345091;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3598,808;ESP6500_AA_AGE=323.7+/-298.2;ESP6500_AA_GTC=1474,650,79;ESP6500_CDS_SIZES=NM_182581.3:786;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=202;ESP6500_EA_AC=8567,33;ESP6500_EA_AGE=21.6+/-65.8;ESP6500_EA_GTC=4269,29,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182581.3:missense;ESP6500_GL=C1orf111;ESP6500_GRCh38_POSITION=1:162375301;ESP6500_GS=64;ESP6500_GTC=5743,679,81;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182581.3:c.206C>T;ESP6500_HGVS_PROTEIN_VAR=NM_182581.3:p.(A69V);ESP6500_MAF=0.3837,18.3386,6.4662;ESP6500_PH=benign:0.0;ESP6500_TAC=12165,841	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1721,176,0
chr1	162375504	rs3737312	G	T	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.067;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.66;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737312;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding||c.-3410G>T|||||3402|,T|intron_variant|MODIFIER|C1orf111|C1orf111|transcript|NM_182581.3|protein_coding|1/2|c.104-101C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=949;p3_1000G_AF=0.189497;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=20910;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162345294;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:329,0,334
chr1	162376643	rs150155141	CA	C	582.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.163;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.786;SOR=0.807;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs150155141;dbSNPBuildID=134;ANN=C|upstream_gene_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding||c.-2270delA|||||2262|,C|intron_variant|MODIFIER|C1orf111|C1orf111|transcript|NM_182581.3|protein_coding|1/2|c.103+44delT||||||;p3_1000G_AA=AAAAAAAA|AAAAAAAA|AAAAAAA|deletion;p3_1000G_AC=1430;p3_1000G_AF=0.285543;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=20320;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.3569;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162346433;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:32,26:58:99:620,0,799
chr1	162378872	rs164188	C	T	2144.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=2.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs164188;dbSNPBuildID=79;ANN=T|upstream_gene_variant|MODIFIER|C1orf111|C1orf111|transcript|NM_182581.3|protein_coding||c.-2082G>A|||||2018|,T|upstream_gene_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding||c.-42C>T|||||34|,T|upstream_gene_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001085375.1|protein_coding||c.-3030C>T|||||2858|,T|intergenic_region|MODIFIER|C1orf111-C1orf226|C1orf111-C1orf226|intergenic_region|C1orf111-C1orf226|||n.162378872C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4987;p3_1000G_AF=0.995807;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17159;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162348662;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1362,22;ESP6500_AA_GTC=672,18,2;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=119;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:162378872;ESP6500_GTC=2263,18,2;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=0.0,1.5896,0.4818;ESP6500_TAC=4544,22	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2173,192,0
chr1	162381796	rs901662	G	A	488.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.804;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0.917;SOR=0.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs901662;dbSNPBuildID=86;ANN=A|5_prime_UTR_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001085375.1|protein_coding|1/2|c.-106G>A|||||106|,A|upstream_gene_variant|MODIFIER|C1orf111|C1orf111|transcript|NM_182581.3|protein_coding||c.-5006C>T|||||4942|,A|intron_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding|1/2|c.119-95G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=982;p3_1000G_AF=0.196086;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=18836;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162351586;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,17:28:99:517,0,303
chr1	162382373	rs7531449	G	A	198.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.8;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.322;SOR=1.356;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7531449;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding|2/2|c.446+155G>A||||||,A|intron_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001085375.1|protein_coding|1/1|c.317+155G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=982;p3_1000G_AF=0.196086;p3_1000G_AFR_AF=0.1172;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=18960;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162352163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,8:25:99:227,0,473
chr1	162383151	rs11806859	G	A	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.955;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11806859;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001135240.1|protein_coding|2/2|c.447-31G>A||||||,A|intron_variant|MODIFIER|C1orf226|C1orf226|transcript|NM_001085375.1|protein_coding|1/1|c.318-31G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=22257;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.2863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162352941;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=378,3756;ESP6500_AA_GTC=15,348,1704;ESP6500_CDS_SIZES=NM_001135240.1:948,NM_001085375.1:819;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=42;ESP6500_EA_AC=2368,6026;ESP6500_EA_GTC=337,1694,2166;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001135240.1:intron,NM_001085375.1:intron;ESP6500_GL=C1orf226;ESP6500_GRCh38_POSITION=1:162383151;ESP6500_GTC=352,2042,3870;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001135240.1:c.447-31G>A,NM_001085375.1:c.318-31G>A;ESP6500_MAF=28.2106,9.1437,21.9189;ESP6500_TAC=2746,9782	GT:AD:DP:GQ:PL	0/1:16,8:24:99:208,0,399
chr1	162397445	rs164124	G	A	345.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs164124;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|SH2D1B|SH2D1B|transcript|NM_053282.4|protein_coding|3/3|c.364-130C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2941;p3_1000G_AF=0.58726;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=18361;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.663;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162367235;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:374,30,0
chr1	162402928	rs3121196	G	A	676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.15;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3121196;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|SH2D1B|SH2D1B|transcript|NM_053282.4|protein_coding|1/3|c.135-126C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4405;p3_1000G_AF=0.879593;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=15981;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162372718;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:57:1|1:162402913_C_CT:705,57,0
chr1	162412043	rs12745630;rs66518016	C	G	822.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=2.399;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.614;SOR=1.082;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371632168,rs12745630;dbSNPBuildID=121;ANN=G|5_prime_UTR_variant|MODIFIER|SH2D1B|SH2D1B|transcript|NM_053282.4|protein_coding|1/4|c.-27G>C|||||27|;p3_1000G_AA=C|||;p3_1000G_AC=967;p3_1000G_AF=0.193091;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=2439;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.2962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162381833;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=338,4068;ESP6500_AA_AGE=174.1+/-203.8;ESP6500_AA_GTC=9,320,1874;ESP6500_CDS_SIZES=NM_053282.4:399;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=89;ESP6500_EA_AC=2589,6011;ESP6500_EA_AGE=413.0+/-351.0;ESP6500_EA_GTC=385,1819,2096;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053282.4:utr-5;ESP6500_GL=SH2D1B;ESP6500_GRCh38_POSITION=1:162412043;ESP6500_GTC=394,2139,3970;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_053282.4:c.-27G>C;ESP6500_MAF=30.1047,7.6714,22.505;ESP6500_TAC=2927,10079	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,27:64:99:0|1:162412043_C_G:851,0,1041
chr1	162588915	rs12022205	C	T	90.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.377;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-1.383;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12022205;dbSNPBuildID=120;ANN=T|sequence_feature|LOW|UAP1|UAP1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_003115.4|protein_coding|7/9|c.1169+82C>T||||||,T|intron_variant|MODIFIER|UAP1|UAP1|transcript|NM_001324116.1|protein_coding|7/10|c.1169+82C>T||||||,T|intron_variant|MODIFIER|UAP1|UAP1|transcript|NM_001324115.1|protein_coding|8/10|c.1169+82C>T||||||,T|intron_variant|MODIFIER|UAP1|UAP1|transcript|NM_001324117.1|protein_coding|7/10|c.1169+82C>T||||||,T|intron_variant|MODIFIER|UAP1|UAP1|transcript|NM_003115.4|protein_coding|7/9|c.1169+82C>T||||||,T|intron_variant|MODIFIER|UAP1|UAP1|transcript|NM_001324113.1|protein_coding|8/10|c.1169+82C>T||||||,T|intron_variant|MODIFIER|UAP1|UAP1|transcript|NM_001324114.1|protein_coding|7/9|c.1169+82C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1144;p3_1000G_AF=0.228435;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=11269;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162558705;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:119,0,154
chr1	162753056	rs1632311;259936	C	G	912.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1632311;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_001014796.1|protein_coding|4/18|c.83-39C>G||||||,G|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_006182.2|protein_coding|3/17|c.83-39C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4860;p3_1000G_AF=0.970447;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20049;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162722846;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4058,348;ESP6500_AA_AGE=180.8+/-209.0;ESP6500_AA_GTC=1871,316,16;ESP6500_CDS_SIZES=NM_006182.2:2568,NM_001014796.1:2568;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=65;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006182.2:intron,NM_001014796.1:intron;ESP6500_GL=DDR2;ESP6500_GRCh38_POSITION=1:162753056;ESP6500_GTC=6168,319,16;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006182.2:c.83-39C>G,NM_001014796.1:c.83-39C>G;ESP6500_MAF=0.0349,7.8983,2.6988;ESP6500_TAC=12655,351;CLINVAR_ALLELEID=249489;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.162753056C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DDR2:4921;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1632311	GT:AD:DP:GQ:PL	1/1:0,29:29:87:941,87,0
chr1	162755865	rs1115570	A	C	261.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1115570;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_001014796.1|protein_coding|8/18|c.671+96A>C||||||,C|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_006182.2|protein_coding|7/17|c.671+96A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4647;p3_1000G_AF=0.927915;p3_1000G_AFR_AF=0.7814;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=20540;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162725655;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:290,24,0
chr1	162767326	rs2298258;259929	C	G	664.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.828;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.477;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.246;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298258;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|DDR2|DDR2|transcript|NM_001014796.1|protein_coding|12/19|c.1260C>G|p.Leu420Leu|1725/3244|1260/2568|420/855||,G|synonymous_variant|LOW|DDR2|DDR2|transcript|NM_006182.2|protein_coding|11/18|c.1260C>G|p.Leu420Leu|1645/3164|1260/2568|420/855||;p3_1000G_AA=C|||;p3_1000G_AC=1745;p3_1000G_AF=0.348442;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=20143;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.1461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162737116;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2082,2324;ESP6500_AA_AGE=572.6+/-383.4;ESP6500_AA_GTC=502,1078,623;ESP6500_CDS_SIZES=NM_006182.2:2568,NM_001014796.1:2568;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=110;ESP6500_EA_AC=1264,7336;ESP6500_EA_AGE=252.6+/-278.6;ESP6500_EA_GTC=103,1058,3139;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006182.2:coding-synonymous,NM_001014796.1:coding-synonymous;ESP6500_GL=DDR2;ESP6500_GRCh38_POSITION=1:162767326;ESP6500_GTC=605,2136,3762;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006182.2:c.1260C>G,NM_001014796.1:c.1260C>G;ESP6500_HGVS_PROTEIN_VAR=NM_006182.2:p.(L420),NM_001014796.1:p.(L420);ESP6500_MAF=14.6977,47.2537,25.7266;ESP6500_TAC=3346,9660;CLINVAR_AF_ESP=0.2573;CLINVAR_AF_EXAC=0.22417;CLINVAR_AF_TGP=0.3484;CLINVAR_ALLELEID=249492;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002651,MedGen:C0432211|MedGen:CN169374;CLINVAR_CLNDN=Spondyloepimetaphyseal_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.162767326C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3038;CLINVAR_GENEINFO=DDR2:4921;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2298258	GT:AD:DP:GQ:PL	0/1:25,26:51:99:693,0,680
chr1	162770537	rs1780003;259930	T	C	2887.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.511;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1780003;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_001014796.1|protein_coding|13/18|c.1504+25T>C||||||,C|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_006182.2|protein_coding|12/17|c.1504+25T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4735;p3_1000G_AF=0.945487;p3_1000G_AFR_AF=0.8033;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=18866;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162740327;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3731,675;ESP6500_AA_AGE=284.0+/-277.4;ESP6500_AA_GTC=1578,575,50;ESP6500_CDS_SIZES=NM_006182.2:2568,NM_001014796.1:2568;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=52;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=5.0+/-18.6;ESP6500_EA_GTC=4293,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006182.2:intron,NM_001014796.1:intron;ESP6500_GL=DDR2;ESP6500_GRCh38_POSITION=1:162770537;ESP6500_GTC=5871,582,50;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006182.2:c.1504+25T>C,NM_001014796.1:c.1504+25T>C;ESP6500_MAF=0.0814,15.32,5.2437;ESP6500_TAC=12324,682;CLINVAR_ALLELEID=249493;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.162770537T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DDR2:4921;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1780003	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2916,279,0
chr1	162773628	rs1355287;259932	G	T	500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1355287;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_001014796.1|protein_coding|15/18|c.1856+32G>T||||||,T|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_006182.2|protein_coding|14/17|c.1856+32G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20463;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162743418;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4338,68;ESP6500_AA_AGE=62.9+/-100.1;ESP6500_AA_GTC=2135,68,0;ESP6500_CDS_SIZES=NM_006182.2:2568,NM_001014796.1:2568;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=56;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006182.2:intron,NM_001014796.1:intron;ESP6500_GL=DDR2;ESP6500_GRCh38_POSITION=1:162773628;ESP6500_GTC=6435,68,0;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_006182.2:c.1856+32G>T,NM_001014796.1:c.1856+32G>T;ESP6500_MAF=0.0,1.5433,0.5228;ESP6500_TAC=12938,68;CLINVAR_ALLELEID=249495;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.162773628G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DDR2:4921;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1355287	GT:AD:DP:GQ:PL	1/1:0,16:16:48:529,48,0
chr1	162778798	rs907074	C	A	411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs907074;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_001014796.1|protein_coding|18/18|c.2433+69C>A||||||,A|intron_variant|MODIFIER|DDR2|DDR2|transcript|NM_006182.2|protein_coding|17/17|c.2433+69C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4852;p3_1000G_AF=0.96885;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=19660;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162748588;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:440,36,0
chr1	162790761	rs1704754	C	T	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.729;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.81;MQRankSum=-0.831;QD=17.69;ReadPosRankSum=-0.199;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1704754;dbSNPBuildID=89;ANN=T|5_prime_UTR_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_016371.3|protein_coding|1/9|c.-40C>T|||||40|,T|5_prime_UTR_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_001304512.1|protein_coding|1/4|c.-40C>T|||||40|,T|5_prime_UTR_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_001304513.1|protein_coding|1/4|c.-40C>T|||||40|;p3_1000G_AA=C|||;p3_1000G_AC=2661;p3_1000G_AF=0.53135;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=12025;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.7813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162760551;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,13:17:99:0|1:162790761_C_T:329,0,107
chr1	162790764	rs1780010	T	C	705.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.81;QD=32.05;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71519246;dbSNPBuildID=89;ANN=C|5_prime_UTR_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_016371.3|protein_coding|1/9|c.-37T>C|||||37|,C|5_prime_UTR_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_001304512.1|protein_coding|1/4|c.-37T>C|||||37|,C|5_prime_UTR_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_001304513.1|protein_coding|1/4|c.-37T>C|||||37|;p3_1000G_AA=C|||;p3_1000G_AC=4737;p3_1000G_AF=0.945887;p3_1000G_AFR_AF=0.8048;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs71519246;p3_1000G_DP=12060;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162760554;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:162790761_C_T:734,51,0
chr1	162795685	rs2684884	G	C	1788.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.01;QD=31.94;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2684884;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_016371.3|protein_coding|2/8|c.240-900G>C||||||,C|intron_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_001304512.1|protein_coding|2/3|c.240-900G>C||||||,C|intron_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_001304513.1|protein_coding|2/3|c.240-900G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4736;p3_1000G_AF=0.945687;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=17868;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162765475;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1817,166,0
chr1	162796686	rs1780019	C	T	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.943;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.22;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1780019;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_016371.3|protein_coding|3/8|c.332+9C>T||||||,T|intron_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_001304512.1|protein_coding|3/3|c.332+9C>T||||||,T|intron_variant|MODIFIER|HSD17B7|HSD17B7|transcript|NM_001304513.1|protein_coding|3/3|c.332+9C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2675;p3_1000G_AF=0.534145;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=19007;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.7813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162766476;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1312,3094;ESP6500_AA_AGE=439.6+/-345.7;ESP6500_AA_GTC=208,896,1099;ESP6500_CDS_SIZES=NM_016371.2:1026;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=101;ESP6500_EA_AC=6817,1783;ESP6500_EA_AGE=730.8+/-406.8;ESP6500_EA_GTC=2715,1387,198;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016371.2:intron;ESP6500_GL=HSD17B7;ESP6500_GRCh38_POSITION=1:162796686;ESP6500_GTC=2923,2283,1297;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016371.2:c.332+9C>T;ESP6500_MAF=20.7326,29.7776,37.4981;ESP6500_TAC=8129,4877	GT:AD:DP:GQ:PL	0/1:21,17:38:99:382,0,549
chr1	162852981	rs2684878	A	C	584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2684878;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|CCDC190|CCDC190|transcript|NM_178550.4|protein_coding||c.*1784T>G|||||1316|,C|intergenic_region|MODIFIER|HSD17B7-CCDC190|HSD17B7-CCDC190|intergenic_region|HSD17B7-CCDC190|||n.162852981A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3871;p3_1000G_AF=0.772963;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=22641;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162822771;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:613,57,0
chr1	162853317	rs17435851	T	A	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.154;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17435851;dbSNPBuildID=123;ANN=A|downstream_gene_variant|MODIFIER|CCDC190|CCDC190|transcript|NM_178550.4|protein_coding||c.*1448A>T|||||980|,A|intergenic_region|MODIFIER|HSD17B7-CCDC190|HSD17B7-CCDC190|intergenic_region|HSD17B7-CCDC190|||n.162853317T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=605;p3_1000G_AF=0.120807;p3_1000G_AFR_AF=0.2179;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=17781;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162823107;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0644;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:219,0,217
chr1	163339512	rs2999852	C	T	782.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2999852;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|NUF2|NUF2|transcript|NM_031423.3|protein_coding|8/13|c.606+35C>T||||||,T|intron_variant|MODIFIER|NUF2|NUF2|transcript|NM_145697.2|protein_coding|8/13|c.606+35C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4458;p3_1000G_AF=0.890176;p3_1000G_AFR_AF=0.6952;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=17350;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.9602;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163309302;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9734;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3236,1170;ESP6500_AA_AGE=390.7+/-327.8;ESP6500_AA_GTC=1172,892,139;ESP6500_CDS_SIZES=NM_145697.2:1395,NM_031423.3:1395;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=35;ESP6500_EA_AC=8245,353;ESP6500_EA_AGE=116.3+/-176.0;ESP6500_EA_GTC=3956,333,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145697.2:intron,NM_031423.3:intron;ESP6500_GL=NUF2;ESP6500_GRCh38_POSITION=1:163339512;ESP6500_GTC=5128,1225,149;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145697.2:c.606+35C>T,NM_031423.3:c.606+35C>T;ESP6500_MAF=4.1056,26.5547,11.7118;ESP6500_TAC=11481,1523	GT:AD:DP:GQ:PL	1/1:0,24:24:72:811,72,0
chr1	163347747	rs201126808	T	A	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=-0.872;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201126808;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|NUF2|NUF2|transcript|NM_031423.3|protein_coding|11/13|c.949-16T>A||||||,A|intron_variant|MODIFIER|NUF2|NUF2|transcript|NM_145697.2|protein_coding|11/13|c.949-16T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16751;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163317537;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1,4403;ESP6500_AA_GTC=0,1,2201;ESP6500_CDS_SIZES=NM_145697.2:1395,NM_031423.3:1395;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=44;ESP6500_EA_AC=0,8594;ESP6500_EA_GTC=0,0,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145697.2:intron,NM_031423.3:intron;ESP6500_GL=NUF2;ESP6500_GRCh38_POSITION=1:163347747;ESP6500_GTC=0,1,6498;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_145697.2:c.949-16T>A,NM_031423.3:c.949-16T>A;ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_TAC=1,12997	GT:AD:DP:GQ:PL	0/1:10,3:13:72:72,0,291
chr1	164559883	rs2275558	G	A	1081.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=3.086;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275558;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|PBX1|PBX1|transcript|NM_002585.3|protein_coding|1/9|c.61G>A|p.Gly21Ser|524/6903|61/1293|21/430||,A|missense_variant|MODERATE|PBX1|PBX1|transcript|NM_001204961.1|protein_coding|1/8|c.61G>A|p.Gly21Ser|524/6790|61/1044|21/347||,A|missense_variant|MODERATE|PBX1|PBX1|transcript|NM_001204963.1|protein_coding|1/9|c.61G>A|p.Gly21Ser|524/4147|61/1263|21/420||;p3_1000G_AA=G|||;p3_1000G_AC=1539;p3_1000G_AF=0.307308;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=6892;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.1968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=164529120;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=168,3946;ESP6500_AA_GTC=3,162,1892;ESP6500_CDS_SIZES=NM_002585.3:1293,NM_001204963.1:1263,NM_001204961.1:1044;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=11;ESP6500_EA_AC=1503,6483;ESP6500_EA_GTC=141,1221,2631;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002585.3:missense,NM_001204963.1:missense,NM_001204961.1:missense;ESP6500_GL=PBX1;ESP6500_GRCh38_POSITION=1:164559883;ESP6500_GS=56,56,56;ESP6500_GTC=144,1383,4523;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002585.3:c.61G>A,NM_001204963.1:c.61G>A,NM_001204961.1:c.61G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002585.3:p.(G21S),NM_001204963.1:p.(G21S),NM_001204961.1:p.(G21S);ESP6500_MAF=18.8204,4.0836,13.8099;ESP6500_PH=possibly-damaging:0.491,possibly-damaging:0.491,possibly-damaging:0.491;ESP6500_TAC=1671,10429	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1110,110,0
chr1	164560234	rs2275559	G	C	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.121;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=8.113;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=2.18;SOR=0.033;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275559;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PBX1|PBX1|transcript|NM_002585.3|protein_coding|1/8|c.191+221G>C||||||,C|intron_variant|MODIFIER|PBX1|PBX1|transcript|NM_001204961.1|protein_coding|1/7|c.191+221G>C||||||,C|intron_variant|MODIFIER|PBX1|PBX1|transcript|NM_001204963.1|protein_coding|1/8|c.191+221G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1084;p3_1000G_AF=0.216454;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=13158;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.1332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=164529471;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:175,0,362
chr1	164820207	rs1538488	A	G	779.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.9;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1538488;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|PBX1|PBX1|transcript|NM_002585.3|protein_coding|7/8|c.1110+23A>G||||||,G|intron_variant|MODIFIER|PBX1|PBX1|transcript|NM_001204961.1|protein_coding|6/7|c.998-1330A>G||||||,G|intron_variant|MODIFIER|PBX1|PBX1|transcript|NM_001204963.1|protein_coding|7/8|c.1110+23A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18484;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=164789444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4406,0;ESP6500_AA_GTC=2203,0,0;ESP6500_CDS_SIZES=NM_002585.3:1293,NM_001204963.1:1263,NM_001204961.1:1044;ESP6500_CG=-2.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=45;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002585.3:intron,NM_001204963.1:intron,NM_001204961.1:intron;ESP6500_GL=PBX1;ESP6500_GRCh38_POSITION=1:164820207;ESP6500_GTC=6501,2,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002585.3:c.1110+23A>G,NM_001204963.1:c.1110+23A>G,NM_001204961.1:c.998-1330A>G;ESP6500_MAF=0.0233,0.0,0.0154;ESP6500_TAC=13004,2	GT:AD:DP:GQ:PL	1/1:0,23:23:69:808,69,0
chr1	165203979	rs1354509	A	G	2112.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1354509;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|LMX1A|LMX1A|transcript|NM_001174069.1|protein_coding|9/9|c.1050T>C|p.Asp350Asp|1244/3356|1050/1149|350/382||,G|synonymous_variant|LOW|LMX1A|LMX1A|transcript|NM_177398.3|protein_coding|9/9|c.1050T>C|p.Asp350Asp|1433/3545|1050/1149|350/382||;p3_1000G_AA=G|||;p3_1000G_AC=5002;p3_1000G_AF=0.998802;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19652;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165173216;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4395,11;ESP6500_AA_AGE=17.9+/-39.9;ESP6500_AA_GTC=2192,11,0;ESP6500_CDS_SIZES=NM_177398.3:1149,NM_001174069.1:1149;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=109;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_177398.3:coding-synonymous,NM_001174069.1:coding-synonymous;ESP6500_GL=LMX1A;ESP6500_GRCh38_POSITION=1:165203979;ESP6500_GTC=6492,11,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_177398.3:c.1050T>C,NM_001174069.1:c.1050T>C;ESP6500_HGVS_PROTEIN_VAR=NM_177398.3:p.(D350),NM_001174069.1:p.(D350);ESP6500_MAF=0.0,0.2497,0.0846;ESP6500_TAC=12995,11	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2141,192,0
chr1	165210852	rs1532815	T	A	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.057;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1532815;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|LMX1A|LMX1A|transcript|NM_001174069.1|protein_coding|5/8|c.670-76A>T||||||,A|intron_variant|MODIFIER|LMX1A|LMX1A|transcript|NM_177398.3|protein_coding|5/8|c.670-76A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3348;p3_1000G_AF=0.66853;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=19131;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.7286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165180089;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:202,0,172
chr1	165249397	rs4656440	C	G	861.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.584;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.732;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.744;SOR=0.348;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4656440;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|LMX1A|LMX1A|transcript|NM_001174069.1|protein_coding|4/8|c.496+11G>C||||||,G|intron_variant|MODIFIER|LMX1A|LMX1A|transcript|NM_177398.3|protein_coding|4/8|c.496+11G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=364;p3_1000G_AF=0.0726837;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=18043;p3_1000G_EAS_AF=0.122;p3_1000G_EUR_AF=0.0557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165218634;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=43,4363;ESP6500_AA_AGE=46.7+/-81.2;ESP6500_AA_GTC=0,43,2160;ESP6500_CDS_SIZES=NM_177398.3:1149,NM_001174069.1:1149;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=43;ESP6500_EA_AC=491,8109;ESP6500_EA_AGE=141.7+/-198.0;ESP6500_EA_GTC=12,467,3821;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_177398.3:intron,NM_001174069.1:intron;ESP6500_GL=LMX1A;ESP6500_GRCh38_POSITION=1:165249397;ESP6500_GTC=12,510,5981;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_177398.3:c.496+11G>C,NM_001174069.1:c.496+11G>C;ESP6500_MAF=5.7093,0.9759,4.1058;ESP6500_TAC=534,12472	GT:AD:DP:GQ:PL	0/1:25,36:61:99:890,0,727
chr1	165406806	rs283696	T	C	1458.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs283696;dbSNPBuildID=79;ANN=C|splice_region_variant&intron_variant|LOW|RXRG|RXRG|transcript|NM_006917.4|protein_coding|9/9|c.1244+6A>G||||||,C|splice_region_variant&intron_variant|LOW|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|8/8|c.875+6A>G||||||,C|splice_region_variant&intron_variant|LOW|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|10/10|c.875+6A>G||||||,C|sequence_feature|LOW|RXRG|RXRG|helix:combinatorial_evidence_used_in_manual_assertion|NM_006917.4|protein_coding|9/9|c.1244+6A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4367;p3_1000G_AF=0.872005;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.83;p3_1000G_AN=5008;p3_1000G_DP=19068;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.7962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165376043;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.911;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3868,538;ESP6500_AA_AGE=776.6+/-414.2;ESP6500_AA_GTC=1702,464,37;ESP6500_CDS_SIZES=NM_006917.4:1392,NM_001256571.1:1023,NM_001256570.1:1023;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=161;ESP6500_EA_AC=6711,1889;ESP6500_EA_AGE=727.8+/-406.7;ESP6500_EA_GTC=2620,1471,209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006917.4:intron,NM_001256571.1:intron,NM_001256570.1:intron;ESP6500_GL=RXRG;ESP6500_GRCh38_POSITION=1:165406806;ESP6500_GTC=4322,1935,246;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006917.4:c.1244+6A>G,NM_001256571.1:c.875+6A>G,NM_001256570.1:c.875+6A>G;ESP6500_MAF=21.9651,12.2106,18.6606;ESP6500_TAC=10579,2427	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1487,135,0
chr1	165406990	rs111545739	C	CCG	885.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=3.16;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs111545739;dbSNPBuildID=132;ANN=CCG|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_006917.4|protein_coding|8/9|c.1139-74_1139-73insCG||||||,CCG|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|7/8|c.770-74_770-73insCG||||||,CCG|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|9/10|c.770-74_770-73insCG||||||;p3_1000G_AC=903;p3_1000G_AF=0.180312;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=19969;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165376227;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,21:21:63:1|1:165406990_C_CCG:923,63,0
chr1	165406994	rs113398546;rs764778331	CTG	C	858.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.93;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs113398546;dbSNPBuildID=144,132;ANN=C|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_006917.4|protein_coding|8/9|c.1139-79_1139-78delCA||||||,C|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|7/8|c.770-79_770-78delCA||||||,C|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|9/10|c.770-79_770-78delCA||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:60:1|1:165406990_C_CCG:896,60,0
chr1	165408152	rs283692	T	C	916.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs283692;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_006917.4|protein_coding|8/9|c.1138+75A>G||||||,C|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|7/8|c.769+75A>G||||||,C|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|9/10|c.769+75A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18302;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165377389;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:945,75,0
chr1	165408315	rs2134095	G	A	704.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.809;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.049;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.392;SOR=0.474;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2134095;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|RXRG|RXRG|transcript|NM_006917.4|protein_coding|8/10|c.1050C>T|p.Val350Val|1512/2195|1050/1392|350/463||,A|synonymous_variant|LOW|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|7/9|c.681C>T|p.Val227Val|987/1670|681/1023|227/340||,A|synonymous_variant|LOW|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|9/11|c.681C>T|p.Val227Val|1570/2253|681/1023|227/340||;p3_1000G_AA=A|||;p3_1000G_AC=2398;p3_1000G_AF=0.478834;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=19617;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.671;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165377552;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1364,3042;ESP6500_AA_AGE=690.9+/-405.3;ESP6500_AA_GTC=214,936,1053;ESP6500_CDS_SIZES=NM_006917.4:1392,NM_001256571.1:1023,NM_001256570.1:1023;ESP6500_CG=-4.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=112;ESP6500_EA_AC=5847,2753;ESP6500_EA_AGE=436.9+/-358.5;ESP6500_EA_GTC=1990,1867,443;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006917.4:coding-synonymous,NM_001256571.1:coding-synonymous,NM_001256570.1:coding-synonymous;ESP6500_GL=RXRG;ESP6500_GRCh38_POSITION=1:165408315;ESP6500_GTC=2204,2803,1496;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006917.4:c.1050C>T,NM_001256571.1:c.681C>T,NM_001256570.1:c.681C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006917.4:p.(V350),NM_001256571.1:p.(V227),NM_001256570.1:p.(V227);ESP6500_MAF=32.0116,30.9578,44.5564;ESP6500_TAC=7211,5795	GT:AD:DP:GQ:PL	0/1:25,30:55:99:733,0,714
chr1	165409492	rs113137815;rs55949511;rs768616294	TAC	T	655.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.54;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55949511,rs113137815;dbSNPBuildID=137,144,132;ANN=T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_006917.4|protein_coding|7/9|c.1046+64_1046+65delGT||||||,T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|6/8|c.677+64_677+65delGT||||||,T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|8/10|c.677+64_677+65delGT||||||	GT:AD:DP:GQ:PL	1/1:0,17:17:60:693,60,0
chr1	165409496	rs12406497	C	T	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.467;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12406497;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_006917.4|protein_coding|7/9|c.1046+62G>A||||||,T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|6/8|c.677+62G>A||||||,T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|8/10|c.677+62G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2262;p3_1000G_AF=0.451677;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=18478;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165378733;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:265,0,388
chr1	165409498	rs138671935	C	T	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.258;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=-1.25;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138671935;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_006917.4|protein_coding|7/9|c.1046+60G>A||||||,T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|6/8|c.677+60G>A||||||,T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|8/10|c.677+60G>A||||||	GT:AD:DP:GQ:PL	0/1:10,11:21:99:402,0,334
chr1	165417330	rs2281986	C	T	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.842;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-1.361;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2281986;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_006917.4|protein_coding|3/9|c.443-110G>A||||||,T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|2/8|c.74-110G>A||||||,T|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|4/10|c.74-110G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1961;p3_1000G_AF=0.391573;p3_1000G_AFR_AF=0.23;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=17610;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165386567;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:244,0,417
chr1	165419892	rs1128977	G	A	1477.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.865;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=0.725;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.42;SOR=0.799;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1128977;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|RXRG|RXRG|transcript|NM_006917.4|protein_coding|3/10|c.420C>T|p.Ala140Ala|882/2195|420/1392|140/463||,A|synonymous_variant|LOW|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|2/9|c.51C>T|p.Ala17Ala|357/1670|51/1023|17/340||,A|synonymous_variant|LOW|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|4/11|c.51C>T|p.Ala17Ala|940/2253|51/1023|17/340||;p3_1000G_AA=G|||;p3_1000G_AC=1139;p3_1000G_AF=0.227436;p3_1000G_AFR_AF=0.0719;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=17790;p3_1000G_EAS_AF=0.122;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165389129;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=537,3869;ESP6500_AA_AGE=242.5+/-252.5;ESP6500_AA_GTC=33,471,1699;ESP6500_CDS_SIZES=NM_006917.4:1392,NM_001256571.1:1023,NM_001256570.1:1023;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=135;ESP6500_EA_AC=3324,5276;ESP6500_EA_AGE=495.8+/-374.1;ESP6500_EA_GTC=646,2032,1622;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006917.4:coding-synonymous,NM_001256571.1:coding-synonymous,NM_001256570.1:coding-synonymous;ESP6500_GL=RXRG;ESP6500_GRCh38_POSITION=1:165419892;ESP6500_GTC=679,2503,3321;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006917.4:c.420C>T,NM_001256571.1:c.51C>T,NM_001256570.1:c.51C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006917.4:p.(A140),NM_001256571.1:p.(A17),NM_001256570.1:p.(A17);ESP6500_MAF=38.6512,12.1879,29.6863;ESP6500_TAC=3861,9145	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1506,0,1346
chr1	165420048	rs157870	C	G	1007.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.441;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.13;SOR=0.661;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs157870;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_006917.4|protein_coding|2/9|c.298-34G>C||||||,G|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256571.1|protein_coding|1/8|c.-72-34G>C||||||,G|intron_variant|MODIFIER|RXRG|RXRG|transcript|NM_001256570.1|protein_coding|3/10|c.-72-34G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1806;p3_1000G_AF=0.360623;p3_1000G_AFR_AF=0.5915;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=21009;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.3887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165389285;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2393,2013;ESP6500_AA_AGE=601.2+/-389.7;ESP6500_AA_GTC=645,1103,455;ESP6500_CDS_SIZES=NM_006917.4:1392,NM_001256571.1:1023,NM_001256570.1:1023;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=42;ESP6500_EA_AC=3421,5179;ESP6500_EA_AGE=495.9+/-374.2;ESP6500_EA_GTC=697,2027,1576;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006917.4:intron,NM_001256571.1:intron,NM_001256570.1:intron;ESP6500_GL=RXRG;ESP6500_GRCh38_POSITION=1:165420048;ESP6500_GTC=1342,3130,2031;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006917.4:c.298-34G>C,NM_001256571.1:c.-106G>C,NM_001256570.1:c.-106G>C;ESP6500_MAF=39.7791,45.6877,44.7024;ESP6500_TAC=5814,7192	GT:AD:DP:GQ:PL	0/1:47,38:85:99:1036,0,1399
chr1	165563768	rs453717	C	A	611.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.009;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.288;SOR=0.669;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs453717;dbSNPBuildID=80;ANN=A|synonymous_variant|LOW|LRRC52|LRRC52|transcript|NM_001005214.3|protein_coding|2/2|c.886C>A|p.Arg296Arg|942/1122|886/942|296/313||,A|intron_variant|MODIFIER|LOC400794|LOC400794|transcript|NR_026744.2|pseudogene|3/6|n.959+10250G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1600;p3_1000G_AF=0.319489;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=17171;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.3052;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165533005;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1511,2895;ESP6500_AA_AGE=673.6+/-402.8;ESP6500_AA_GTC=261,989,953;ESP6500_CDS_SIZES=NM_001005214.3:942;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=66;ESP6500_EA_AC=2460,6140;ESP6500_EA_AGE=696.1+/-404.9;ESP6500_EA_GTC=336,1788,2176;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005214.3:coding-synonymous;ESP6500_GL=LRRC52;ESP6500_GRCh38_POSITION=1:165563768;ESP6500_GTC=597,2777,3129;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001005214.3:c.886C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001005214.3:p.(R296);ESP6500_MAF=28.6047,34.2941,30.5321;ESP6500_TAC=3971,9035	GT:AD:DP:GQ:PL	0/1:29,26:55:99:640,0,743
chr1	165563951	rs367199	A	C	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.54;ReadPosRankSum=-0.366;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs367199;dbSNPBuildID=80;ANN=C|downstream_gene_variant|MODIFIER|LRRC52|LRRC52|transcript|NM_001005214.3|protein_coding||c.*127A>C|||||3|,C|intron_variant|MODIFIER|LOC400794|LOC400794|transcript|NR_026744.2|pseudogene|3/6|n.959+10067T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1600;p3_1000G_AF=0.319489;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=17995;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165533188;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:54:193,0,54
chr1	165632128	rs4147596	T	C	1596.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.82;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=4.436;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-0.298;SOR=1.122;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147596;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|MGST3|MGST3|transcript|NM_004528.3|protein_coding|1/5|c.-8+835T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2242;p3_1000G_AF=0.447684;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=18329;p3_1000G_EAS_AF=0.7798;p3_1000G_EUR_AF=0.4523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165601365;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1625,0,1452
chr1	165632229	rs9333378	G	A	2932.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.132;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9333378;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|MGST3|MGST3|transcript|NM_004528.3|protein_coding|1/5|c.-8+936G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3263;p3_1000G_AF=0.651558;p3_1000G_AFR_AF=0.326;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=18115;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.6083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165601466;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=666,1086;ESP6500_AA_GTC=130,406,340;ESP6500_CDS_SIZES=NM_004528.3:459;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=94;ESP6500_EA_AC=2409,1573;ESP6500_EA_GTC=732,945,314;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004528.3:intron;ESP6500_GL=MGST3;ESP6500_GRCh38_POSITION=1:165632229;ESP6500_GTC=862,1351,654;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004528.3:c.-17619G>A;ESP6500_MAF=39.5028,38.0137,46.3725;ESP6500_TAC=3075,2659	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2961,288,0
chr1	165652085	rs77176546;rs9333479	TATTATC	T	166.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.82;ReadPosRankSum=0;SOR=0.527;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs9333479,rs77176546;dbSNPBuildID=135,119;ANN=T|intron_variant|MODIFIER|MGST3|MGST3|transcript|NM_004528.3|protein_coding|4/5|c.249+52_249+57delTTATCA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1225;p3_1000G_AF=0.244609;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=16067;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.2356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165621322;p3_1000G_GRCH37_REF=TATTATC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=INDEL;ESP6500_AA_AC=966,3298;ESP6500_AA_GTC=129,708,1295;ESP6500_CDS_SIZES=NM_004528.3:459;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=69;ESP6500_EA_AC=1587,6665;ESP6500_EA_GTC=168,1251,2707;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004528.3:intron;ESP6500_GL=MGST3;ESP6500_GRCh38_POSITION=1:165652085;ESP6500_GTC=297,1959,4002;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004528.3:c.249+51_249+56del6;ESP6500_MAF=19.2317,22.6548,20.3979;ESP6500_TAC=2553,9963	GT:AD:DP:GQ:PL	0/1:2,5:7:94:204,0,94
chr1	165654118	rs4147603	C	T	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=-0.623;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147603;dbSNPBuildID=110;ANN=T|intron_variant|MODIFIER|MGST3|MGST3|transcript|NM_004528.3|protein_coding|4/5|c.250-161C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2112;p3_1000G_AF=0.421725;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=19718;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165623355;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:61:136,0,61
chr1	165654149	rs4147604	C	G	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.549;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=1;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147604;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|MGST3|MGST3|transcript|NM_004528.3|protein_coding|4/5|c.250-130C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2112;p3_1000G_AF=0.421725;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=20400;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165623386;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:182,0,183
chr1	165654174	rs4147605	C	G	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.329;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.035;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147605;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|MGST3|MGST3|transcript|NM_004528.3|protein_coding|4/5|c.250-105C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2112;p3_1000G_AF=0.421725;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=20789;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165623411;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:331,0,359
chr1	165654214	rs4147606	C	T	419.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.746;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-2.315;SOR=0.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147606;dbSNPBuildID=110;ANN=T|intron_variant|MODIFIER|MGST3|MGST3|transcript|NM_004528.3|protein_coding|4/5|c.250-65C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2112;p3_1000G_AF=0.421725;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=19989;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165623451;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,18:32:99:448,0,434
chr1	165654456	rs4147607	G	C	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.998;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147607;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|MGST3|MGST3|transcript|NM_004528.3|protein_coding|5/5|c.322+105G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2112;p3_1000G_AF=0.421725;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=18516;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165623693;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:142,0,267
chr1	165661238	rs7544840	C	T	304.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7544840;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding||c.*1812G>A|||||974|,T|intergenic_region|MODIFIER|MGST3-ALDH9A1|MGST3-ALDH9A1|intergenic_region|MGST3-ALDH9A1|||n.165661238C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4125;p3_1000G_AF=0.823682;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=17346;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165630475;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:333,27,0
chr1	165661258	rs7511691	T	C	476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7511691;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding||c.*1792A>G|||||954|,C|intergenic_region|MODIFIER|MGST3-ALDH9A1|MGST3-ALDH9A1|intergenic_region|MGST3-ALDH9A1|||n.165661258T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4125;p3_1000G_AF=0.823682;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=17574;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165630495;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:505,39,0
chr1	165661461	rs6667681	A	G	1014.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.751;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6667681;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding||c.*1589T>C|||||751|,G|intergenic_region|MODIFIER|MGST3-ALDH9A1|MGST3-ALDH9A1|intergenic_region|MGST3-ALDH9A1|||n.165661461A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4125;p3_1000G_AF=0.823682;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=17283;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165630698;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1043,99,0
chr1	165661547	rs11458950;rs35742388	C	CA	47.06	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=0.253;SOR=1.981;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11458950,rs35742388;dbSNPBuildID=126,135;ANN=CA|downstream_gene_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding||c.*1502_*1503insT|||||664|,CA|intergenic_region|MODIFIER|MGST3-ALDH9A1|MGST3-ALDH9A1|intergenic_region|MGST3-ALDH9A1|||n.165661547_165661548insA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3238;p3_1000G_AF=0.646565;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=17290;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.5606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165630784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,4:5:11:84,0,11
chr1	165665188	rs3820362	C	G	390.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.789;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.57;ReadPosRankSum=0.051;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820362;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|9/10|c.1350-58G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.3911;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=19874;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165634425;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,13:19:99:419,0,164
chr1	165667512	rs2176151	A	G	322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.51;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=0.081;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2176151;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|8/10|c.1208-62T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1828;p3_1000G_AF=0.365016;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=16195;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165636749;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:351,0,274
chr1	165679649	rs4646896	G	A	613.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.202;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=4.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=0.932;SOR=2.324;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4646896;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|5/10|c.790-67C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1775;p3_1000G_AF=0.354433;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=22177;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.498;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165648886;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,17:34:99:0|1:165679649_G_A:642,0,1005
chr1	165679657	rs4646895	C	G	616.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.18;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=9.947;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.27;ReadPosRankSum=0.599;SOR=3.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4646895;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|5/10|c.790-75G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1776;p3_1000G_AF=0.354633;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=22309;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165648894;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,16:32:99:0|1:165679649_G_A:645,0,967
chr1	165682265	rs1913844	G	C	567.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.88;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1913844;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|3/10|c.458-24C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3736;p3_1000G_AF=0.746006;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=20000;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.6362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165651502;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2776,1630;ESP6500_AA_AGE=503.9+/-365.7;ESP6500_AA_GTC=882,1012,309;ESP6500_CDS_SIZES=NM_000696.3:1557;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=56;ESP6500_EA_AC=5679,2921;ESP6500_EA_AGE=455.0+/-363.7;ESP6500_EA_GTC=1858,1963,479;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000696.3:intron;ESP6500_GL=ALDH9A1;ESP6500_GRCh38_POSITION=1:165682265;ESP6500_GTC=2740,2975,788;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000696.3:c.458-24C>G;ESP6500_MAF=33.9651,36.995,34.9915;ESP6500_TAC=8455,4551	GT:AD:DP:GQ:PL	1/1:0,19:19:57:596,57,0
chr1	165683036	rs1143659	A	G	1589.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.9;SOR=0.729;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1143659;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|3/11|c.402T>C|p.Ile134Ile|507/2500|402/1557|134/518||;p3_1000G_AA=G|||;p3_1000G_AC=3737;p3_1000G_AF=0.746206;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=19261;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.6372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165652273;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2776,1630;ESP6500_AA_AGE=503.9+/-365.7;ESP6500_AA_GTC=882,1012,309;ESP6500_CDS_SIZES=NM_000696.3:1557;ESP6500_CG=-1.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=118;ESP6500_EA_AC=5680,2920;ESP6500_EA_AGE=455.2+/-363.7;ESP6500_EA_GTC=1859,1962,479;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000696.3:coding-synonymous;ESP6500_GL=ALDH9A1;ESP6500_GRCh38_POSITION=1:165683036;ESP6500_GTC=2741,2974,788;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000696.3:c.402T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000696.3:p.(I134);ESP6500_MAF=33.9535,36.995,34.9839;ESP6500_TAC=8456,4550	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1618,165,0
chr1	165683208	rs4233407	A	G	411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4233407;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|2/10|c.328-98T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3736;p3_1000G_AF=0.746006;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=21634;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165652445;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:440,39,0
chr1	165698275	rs4646883	T	C	23.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.975;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=-0.182;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4646883;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|LOC440700|LOC440700|transcript|NR_036683.1|pseudogene||n.-475T>C|||||475|,C|intron_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|1/10|c.181+103A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.149;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=15261;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165667512;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,3:14:52:52,0,292
chr1	165698311	rs4646882	G	C	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.79;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=9.084;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=-1.397;SOR=3.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4646882;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|LOC440700|LOC440700|transcript|NR_036683.1|pseudogene||n.-439G>C|||||439|,C|intron_variant|MODIFIER|ALDH9A1|ALDH9A1|transcript|NM_000696.3|protein_coding|1/10|c.181+67C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=911;p3_1000G_AF=0.181909;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=14029;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165667548;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,5:21:99:149,0,403
chr1	165728260	rs1287844319	CT	C	10.17	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.906;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=5.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=-1.063;SOR=0.033;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_019026.4|protein_coding|6/6|c.622-140delA||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_001256164.1|protein_coding|6/6|c.520-140delA||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_001256165.1|protein_coding|6/6|c.433-140delA||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NR_045818.1|pseudogene|6/6|n.563-140delA||||||	GT:AD:DP:GQ:PL	0/1:10,4:14:47:47,0,203
chr1	165751986	rs7512095	T	C	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-1.207;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7512095;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_019026.4|protein_coding|5/6|c.476+116A>G||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_001256164.1|protein_coding|5/6|c.374+116A>G||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_001256165.1|protein_coding|5/6|c.287+116A>G||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NR_045818.1|pseudogene|5/6|n.417+116A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2585;p3_1000G_AF=0.516174;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=16490;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165721223;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:216,0,164
chr1	165752251	.	CATT	C	102.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.501;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=0.842;SOR=0.368;DEL;HET;VARTYPE=DEL;ANN=C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_019026.4|protein_coding|4/6|c.409-85_409-83delAAT||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_001256164.1|protein_coding|4/6|c.307-85_307-83delAAT||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_001256165.1|protein_coding|4/6|c.220-85_220-83delAAT||||||,C|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NR_045818.1|pseudogene|4/6|n.350-85_350-83delAAT||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:50:140,0,50
chr1	165768467	rs2790053	C	G	2033.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.01;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2790053;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|LOC100147773|LOC100147773|transcript|NR_125374.1|pseudogene||n.-462C>G|||||462|,G|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_019026.4|protein_coding|1/6|c.224-198G>C||||||,G|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_001256164.1|protein_coding|1/6|c.147-223G>C||||||,G|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NM_001256165.1|protein_coding|1/6|c.34+15G>C||||||,G|intron_variant|MODIFIER|TMCO1|TMCO1|transcript|NR_045818.1|pseudogene|1/6|n.165-198G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=21920;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165737704;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2062,188,0
chr1	165890393	rs477033	C	G	691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.59;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs477033;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|UCK2|UCK2|transcript|NM_012474.4|protein_coding|2/6|c.259+30C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19165;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165859630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:720,60,0
chr1	165896063	rs4656465	G	A	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.18;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=0.366;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4656465;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|UCK2|UCK2|transcript|NM_012474.4|protein_coding|3/6|c.357-127G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1219;p3_1000G_AF=0.243411;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=16454;p3_1000G_EAS_AF=0.1448;p3_1000G_EUR_AF=0.2962;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165865300;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:62:62,0,185
chr1	165896241	rs11553301	G	A	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.229;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.145;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.562;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11553301;dbSNPBuildID=120;ANN=A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UDW:A_25-A_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UDW:B_26-B_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UEI:A_26-A_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UEI:B_26-B_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UEJ:A_25-A_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UEJ:A_26-A_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UEJ:B_26-B_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UFQ:A_25-A_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UFQ:A_26-A_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UFQ:B_25-B_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UFQ:B_26-B_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UFQ:C_25-C_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UFQ:C_26-C_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UFQ:D_26-D_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UJ2:A_26-A_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UJ2:B_25-B_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1UJ2:B_26-B_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1XRJ:A_26-A_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|structural_interaction_variant|HIGH|UCK2|UCK2|interaction|1XRJ:B_26-B_136:NM_012474.4|protein_coding|4/7|c.408G>A||||||,A|synonymous_variant|LOW|UCK2|UCK2|transcript|NM_012474.4|protein_coding|4/7|c.408G>A|p.Gly136Gly|747/4920|408/786|136/261||;p3_1000G_AA=G|||;p3_1000G_AC=436;p3_1000G_AF=0.0870607;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=21179;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.1521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165865478;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=207,4199;ESP6500_AA_AGE=127.8+/-164.7;ESP6500_AA_GTC=7,193,2003;ESP6500_CDS_SIZES=NM_012474.4:786;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=208;ESP6500_EA_AC=1308,7292;ESP6500_EA_AGE=257.7+/-281.7;ESP6500_EA_GTC=104,1100,3096;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012474.4:coding-synonymous;ESP6500_GL=UCK2;ESP6500_GRCh38_POSITION=1:165896241;ESP6500_GTC=111,1293,5099;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012474.4:c.408G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012474.4:p.(G136);ESP6500_MAF=15.2093,4.6981,11.6485;ESP6500_TAC=1515,11491	GT:AD:DP:GQ:PL	0/1:22,23:45:99:502,0,695
chr1	166060733	rs4353067	T	C	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.063;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.52;ReadPosRankSum=-1.226;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4353067;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|FAM78B|FAM78B|transcript|NM_001320302.1|protein_coding|1/1|c.264-70A>G||||||,C|intron_variant|MODIFIER|FAM78B|FAM78B|transcript|NR_135199.1|pseudogene|2/2|n.1703-70A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3641;p3_1000G_AF=0.727037;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=17021;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.7097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166029970;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:306,0,139
chr1	166849329	rs2075946	A	G	728.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=5.094;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.459;SOR=1.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075946;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|POGK|POGK|transcript|NM_017542.4|protein_coding|5/6|c.750A>G|p.Ala250Ala|953/5807|750/1830|250/609||,G|synonymous_variant|LOW|POGK|POGK|transcript|NM_001314014.1|protein_coding|3/4|c.396A>G|p.Ala132Ala|727/5581|396/1476|132/491||;p3_1000G_AA=A|||;p3_1000G_AC=1386;p3_1000G_AF=0.276757;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=19070;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.162;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166818566;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=769,3637;ESP6500_AA_AGE=285.5+/-278.2;ESP6500_AA_GTC=61,647,1495;ESP6500_CDS_SIZES=NM_017542.3:1830;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=40;ESP6500_EA_AC=1593,7007;ESP6500_EA_AGE=271.9+/-289.8;ESP6500_EA_GTC=144,1305,2851;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017542.3:coding-synonymous;ESP6500_GL=POGK;ESP6500_GRCh38_POSITION=1:166849329;ESP6500_GTC=205,1952,4346;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017542.3:c.750A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017542.3:p.(A250);ESP6500_MAF=18.5233,17.4535,18.1608;ESP6500_TAC=2362,10644	GT:AD:DP:GQ:PL	0/1:34,28:62:99:757,0,886
chr1	166857536	rs6675153	C	T	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.489;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-1.198;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6675153;dbSNPBuildID=116;ANN=T|3_prime_UTR_variant|MODIFIER|TADA1|TADA1|transcript|NM_053053.3|protein_coding|8/8|c.*31G>A|||||31|,T|downstream_gene_variant|MODIFIER|POGK|POGK|transcript|NM_017542.4|protein_coding||c.*7127C>T|||||1192|,T|downstream_gene_variant|MODIFIER|POGK|POGK|transcript|NM_001314014.1|protein_coding||c.*7127C>T|||||1192|;p3_1000G_AA=T|||;p3_1000G_AC=2215;p3_1000G_AF=0.442292;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=20032;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.4483;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166826773;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2702,1704;ESP6500_AA_AGE=511.2+/-367.7;ESP6500_AA_GTC=819,1064,320;ESP6500_CDS_SIZES=NM_053053.3:1008;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=56;ESP6500_EA_AC=3489,5111;ESP6500_EA_AGE=631.7+/-398.5;ESP6500_EA_GTC=728,2033,1539;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053053.3:utr-3;ESP6500_GL=TADA1;ESP6500_GRCh38_POSITION=1:166857536;ESP6500_GTC=1547,3097,1859;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_053053.3:c.*31G>A;ESP6500_MAF=40.5698,38.6745,47.6011;ESP6500_TAC=6191,6815	GT:AD:DP:GQ:PL	0/1:7,7:14:99:144,0,221
chr1	166862167	rs2075947	A	C	397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.34;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.475;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075947;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|TADA1|TADA1|transcript|NM_053053.3|protein_coding|5/7|c.540+36T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1772;p3_1000G_AF=0.353834;p3_1000G_AFR_AF=0.3926;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=20303;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166831404;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1697,2709;ESP6500_AA_AGE=507.4+/-366.7;ESP6500_AA_GTC=327,1043,833;ESP6500_CDS_SIZES=NM_053053.3:1008;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=69;ESP6500_EA_AC=3248,5352;ESP6500_EA_AGE=482.0+/-370.8;ESP6500_EA_GTC=639,1970,1691;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053053.3:intron;ESP6500_GL=TADA1;ESP6500_GRCh38_POSITION=1:166862167;ESP6500_GTC=966,3013,2524;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_053053.3:c.540+36T>G;ESP6500_MAF=37.7674,38.5157,38.0209;ESP6500_TAC=4945,8061	GT:AD:DP:GQ:PL	0/1:11,14:25:99:426,0,272
chr1	166862466	rs35181816;rs397816530	C	CA	158.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.176;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.35;SOR=0.368;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35181816;dbSNPBuildID=126,138;ANN=CA|intron_variant|MODIFIER|TADA1|TADA1|transcript|NM_053053.3|protein_coding|4/7|c.331-55dupT||||||;p3_1000G_AA=AAAA|AAA|AAAA|deletion;p3_1000G_AC=1772;p3_1000G_AF=0.353834;p3_1000G_AFR_AF=0.3926;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=21147;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166831703;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,7:13:99:196,0,168
chr1	166863962	rs2272793	C	A	361.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.223;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.445;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=1.08;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272793;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TADA1|TADA1|transcript|NM_053053.3|protein_coding|3/7|c.233-41G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1769;p3_1000G_AF=0.353235;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=16440;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166833199;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1678,2728;ESP6500_AA_GTC=327,1024,852;ESP6500_CDS_SIZES=NM_053053.3:1008;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=3237,5361;ESP6500_EA_GTC=640,1957,1702;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053053.3:intron;ESP6500_GL=TADA1;ESP6500_GRCh38_POSITION=1:166863962;ESP6500_GTC=967,2981,2554;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_053053.3:c.233-41G>T;ESP6500_MAF=37.6483,38.0844,37.7961;ESP6500_TAC=4915,8089	GT:AD:DP:GQ:PL	0/1:5,14:19:99:390,0,117
chr1	166869629	rs71253526	A	AATTTT	196.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.076;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-1.26;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71253526;dbSNPBuildID=130;ANN=AATTTT|intron_variant|MODIFIER|TADA1|TADA1|transcript|NM_053053.3|protein_coding|2/7|c.167-120_167-119insAAAAT||||||;p3_1000G_AC=1871;p3_1000G_AF=0.373602;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=18270;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.3718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166838866;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,6:12:99:234,0,429
chr1	166989364	rs2296837	T	C	951.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.556;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.04;SOR=0.599;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296837;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|MAEL|MAEL|transcript|NM_032858.2|protein_coding|1/12|c.12T>C|p.Arg4Arg|276/1926|12/1305|4/434||,C|synonymous_variant|LOW|MAEL|MAEL|transcript|NM_001286377.1|protein_coding|1/11|c.12T>C|p.Arg4Arg|276/1833|12/1212|4/403||,C|sequence_feature|LOW|MAEL|MAEL|dna-binding-region:HMG_box|NM_032858.2|protein_coding|1/12|c.12T>C||||||,C|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286378.1|protein_coding|1/12|c.-120-37T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1512;p3_1000G_AF=0.301917;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=16556;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166958601;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2297,2109;ESP6500_AA_AGE=557.3+/-379.7;ESP6500_AA_GTC=590,1117,496;ESP6500_CDS_SIZES=NM_032858.1:1305;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=2135,6465;ESP6500_EA_AGE=696.9+/-404.9;ESP6500_EA_GTC=255,1625,2420;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032858.1:coding-synonymous;ESP6500_GL=MAEL;ESP6500_GRCh38_POSITION=1:166989364;ESP6500_GTC=845,2742,2916;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032858.1:c.12T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032858.1:p.(R4);ESP6500_MAF=24.8256,47.8665,34.0766;ESP6500_TAC=4432,8574	GT:AD:DP:GQ:PL	0/1:32,37:69:99:980,0,797
chr1	166989473	rs11578336	T	G	780.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.078;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.316;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.393;SOR=0.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11578336;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|MAEL|MAEL|transcript|NM_032858.2|protein_coding|1/12|c.121T>G|p.Ser41Ala|385/1926|121/1305|41/434||,G|missense_variant|MODERATE|MAEL|MAEL|transcript|NM_001286377.1|protein_coding|1/11|c.121T>G|p.Ser41Ala|385/1833|121/1212|41/403||,G|5_prime_UTR_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286378.1|protein_coding|2/13|c.-48T>G|||||300|;p3_1000G_AA=G|||;p3_1000G_AC=1245;p3_1000G_AF=0.248602;p3_1000G_AFR_AF=0.3661;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=14443;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166958710;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1568,2832;ESP6500_AA_GTC=281,1006,913;ESP6500_CDS_SIZES=NM_032858.1:1305;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=2107,6485;ESP6500_EA_GTC=254,1599,2443;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032858.1:missense;ESP6500_GL=MAEL;ESP6500_GRCh38_POSITION=1:166989473;ESP6500_GS=99;ESP6500_GTC=535,2605,3356;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_032858.1:c.121T>G;ESP6500_HGVS_PROTEIN_VAR=NM_032858.1:p.(S41A);ESP6500_MAF=24.5228,35.6364,28.2866;ESP6500_PH=benign:0.0;ESP6500_TAC=3675,9317	GT:AD:DP:GQ:PL	0/1:26,31:57:99:809,0,670
chr1	166989700	rs41269702	G	T	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.652;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.17;SOR=1.535;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41269702;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_032858.2|protein_coding|1/11|c.133-37G>T||||||,T|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286378.1|protein_coding|2/12|c.-36-37G>T||||||,T|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286377.1|protein_coding|1/10|c.132+216G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1170;p3_1000G_AF=0.233626;p3_1000G_AFR_AF=0.3548;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=18339;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166958937;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1512,2890;ESP6500_AA_GTC=273,966,962;ESP6500_CDS_SIZES=NM_032858.1:1305;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=16;ESP6500_EA_AC=1710,6890;ESP6500_EA_GTC=172,1366,2762;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032858.1:intron;ESP6500_GL=MAEL;ESP6500_GRCh38_POSITION=1:166989700;ESP6500_GTC=445,2332,3724;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_032858.1:c.133-37G>T;ESP6500_MAF=19.8837,34.348,24.7808;ESP6500_TAC=3222,9780	GT:AD:DP:GQ:PL	0/1:7,7:14:99:201,0,203
chr1	166992620	rs7511933	G	A	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.347;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.754;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7511933;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_032858.2|protein_coding|3/11|c.326-66G>A||||||,A|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286378.1|protein_coding|4/12|c.158-66G>A||||||,A|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286377.1|protein_coding|2/10|c.233-66G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1464;p3_1000G_AF=0.292332;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=17630;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166961857;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:171,0,261
chr1	166993997	rs3736988	T	C	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.94;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.098;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736988;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_032858.2|protein_coding|4/11|c.482-31T>C||||||,C|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286378.1|protein_coding|5/12|c.314-31T>C||||||,C|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286377.1|protein_coding|3/10|c.389-31T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1909;p3_1000G_AF=0.38119;p3_1000G_AFR_AF=0.6399;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=16218;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.3588;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166963234;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2621,1785;ESP6500_AA_AGE=494.6+/-363.0;ESP6500_AA_GTC=795,1031,377;ESP6500_CDS_SIZES=NM_032858.1:1305;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=3031,5559;ESP6500_EA_AGE=637.7+/-399.3;ESP6500_EA_GTC=536,1959,1800;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032858.1:intron;ESP6500_GL=MAEL;ESP6500_GRCh38_POSITION=1:166993997;ESP6500_GTC=1331,2990,2177;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032858.1:c.482-31T>C;ESP6500_MAF=35.2852,40.5129,43.4903;ESP6500_TAC=5652,7344	GT:AD:DP:GQ:PL	0/1:16,16:32:99:434,0,349
chr1	167005183	rs1041238	T	C	375.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=6.107;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.727;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1041238;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_032858.2|protein_coding|7/11|c.703+53T>C||||||,C|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286378.1|protein_coding|8/12|c.535+53T>C||||||,C|intron_variant|MODIFIER|MAEL|MAEL|transcript|NM_001286377.1|protein_coding|6/10|c.610+53T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=879;p3_1000G_AF=0.175519;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=16924;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.1203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166974420;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=301,1083;ESP6500_AA_GTC=31,239,422;ESP6500_CDS_SIZES=NM_032858.1:1305;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=82;ESP6500_EA_AC=441,2741;ESP6500_EA_GTC=33,375,1183;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032858.1:intron;ESP6500_GL=MAEL;ESP6500_GRCh38_POSITION=1:167005183;ESP6500_GTC=64,614,1605;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032858.1:c.703+53T>C;ESP6500_MAF=13.8592,21.7486,16.2505;ESP6500_TAC=742,3824	GT:AD:DP:GQ:PL	0/1:15,14:29:99:404,0,356
chr1	167073525	rs2274531	C	T	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.45;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.369;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274531;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|GPA33|GPA33|transcript|NM_005814.2|protein_coding|2/7|c.58G>A|p.Asp20Asn|402/2802|58/960|20/319||;p3_1000G_AA=C|||;p3_1000G_AC=407;p3_1000G_AF=0.08127;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=20041;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.0944;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167042762;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=238,4168;ESP6500_AA_AGE=140.0+/-175.5;ESP6500_AA_GTC=6,226,1971;ESP6500_CDS_SIZES=NM_005814.1:960;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=66;ESP6500_EA_AC=954,7646;ESP6500_EA_AGE=209.7+/-250.8;ESP6500_EA_GTC=46,862,3392;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005814.1:missense;ESP6500_GL=GPA33;ESP6500_GRCh38_POSITION=1:167073525;ESP6500_GS=23;ESP6500_GTC=52,1088,5363;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005814.1:c.58G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005814.1:p.(D20N);ESP6500_MAF=11.093,5.4017,9.165;ESP6500_PH=benign:0.0;ESP6500_TAC=1192,11814	GT:AD:DP:GQ:PL	0/1:14,20:34:99:515,0,351
chr1	167090225	rs2281963	G	C	952.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.202;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=4.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.087;SOR=0.289;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2281963;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding||c.-4625G>C|||||4625|,C|intron_variant|MODIFIER|GPA33|GPA33|transcript|NM_005814.2|protein_coding|1/6|c.43+20C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1921;p3_1000G_AF=0.383586;p3_1000G_AFR_AF=0.5605;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=18197;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.5348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167059462;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2372,2034;ESP6500_AA_AGE=564.4+/-381.4;ESP6500_AA_GTC=640,1092,471;ESP6500_CDS_SIZES=NM_005814.1:960;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=135;ESP6500_EA_AC=4267,4333;ESP6500_EA_AGE=578.5+/-390.7;ESP6500_EA_GTC=1098,2071,1131;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005814.1:intron;ESP6500_GL=GPA33;ESP6500_GRCh38_POSITION=1:167090225;ESP6500_GTC=1738,3163,1602;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005814.1:c.43+20C>G;ESP6500_MAF=49.6163,46.1643,48.9543;ESP6500_TAC=6639,6367	GT:AD:DP:GQ:PL	0/1:24,34:58:99:981,0,666
chr1	167090338	rs28384507	G	T	666.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.616;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.9;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28384507;dbSNPBuildID=125;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|GPA33|GPA33|transcript|NM_005814.2|protein_coding|1/7|c.-51C>A||||||,T|5_prime_UTR_variant|MODIFIER|GPA33|GPA33|transcript|NM_005814.2|protein_coding|1/7|c.-51C>A|||||51|,T|upstream_gene_variant|MODIFIER|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding||c.-4512G>T|||||4512|;p3_1000G_AA=G|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=19954;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.4523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167059575;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2331;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1982,2424;ESP6500_AA_AGE=549.0+/-377.7;ESP6500_AA_GTC=439,1104,660;ESP6500_CDS_SIZES=NM_005814.1:960;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=123;ESP6500_EA_AC=3679,4921;ESP6500_EA_AGE=509.1+/-377.2;ESP6500_EA_GTC=817,2045,1438;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005814.1:utr-5;ESP6500_GL=GPA33;ESP6500_GRCh38_POSITION=1:167090338;ESP6500_GTC=1256,3149,2098;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005814.1:c.-51C>A;ESP6500_MAF=42.7791,44.9841,43.5261;ESP6500_TAC=5661,7345	GT:AD:DP:GQ:PL	0/1:31,31:62:99:695,0,805
chr1	167113632	rs12122365	G	A	2229.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=2.376;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12122365;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|1/4|c.111-78G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3337;p3_1000G_AF=0.666334;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=22471;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167082869;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2258,192,0
chr1	167119236	rs1410244	C	A	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.009;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=0.536;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1410244;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|3/4|c.438-13C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2028;p3_1000G_AF=0.404952;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=19495;p3_1000G_EAS_AF=0.7351;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167088473;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1581,2825;ESP6500_AA_AGE=490.8+/-361.9;ESP6500_AA_GTC=294,993,916;ESP6500_CDS_SIZES=NM_001080426.1:3477;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=55;ESP6500_EA_AC=2186,6414;ESP6500_EA_AGE=369.8+/-335.6;ESP6500_EA_GTC=263,1660,2377;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080426.1:intron;ESP6500_GL=DUSP27;ESP6500_GRCh38_POSITION=1:167119236;ESP6500_GTC=557,2653,3293;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080426.1:c.438-13C>A;ESP6500_MAF=25.4186,35.8829,28.9636;ESP6500_TAC=3767,9239	GT:AD:DP:GQ:PL	0/1:8,14:22:99:482,0,271
chr1	167125652	rs34184501	GA	G	319.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.672;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.32;ReadPosRankSum=0.122;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34184501;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|4/4|c.656-134delA||||||;p3_1000G_AA=A|A|-|deletion;p3_1000G_AC=1215;p3_1000G_AF=0.242612;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=20843;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.3042;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167094889;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,10:15:99:357,0,157
chr1	167125926	rs267745	G	C	1459.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=1.203;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs267745;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|5/5|c.795G>C|p.Glu265Asp|795/4034|795/3477|265/1158||;p3_1000G_AA=C|||;p3_1000G_AC=3215;p3_1000G_AF=0.641973;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=19822;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.4751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167095163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3677,729;ESP6500_AA_AGE=302.1+/-287.2;ESP6500_AA_GTC=1536,605,62;ESP6500_CDS_SIZES=NM_001080426.1:3477;ESP6500_CG=-4.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=76;ESP6500_EA_AC=4153,4447;ESP6500_EA_AGE=588.8+/-392.4;ESP6500_EA_GTC=1003,2147,1150;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080426.1:missense;ESP6500_GL=DUSP27;ESP6500_GRCh38_POSITION=1:167125926;ESP6500_GS=45;ESP6500_GTC=2539,2752,1212;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080426.1:c.795G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001080426.1:p.(E265D);ESP6500_MAF=48.2907,16.5456,39.797;ESP6500_PH=benign:0.0;ESP6500_TAC=7830,5176	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1488,138,0
chr1	167126528	rs6668826	G	A	408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.997;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.064;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6668826;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|5/5|c.1397G>A|p.Arg466His|1397/4034|1397/3477|466/1158||;p3_1000G_AA=G|||;p3_1000G_AC=1648;p3_1000G_AF=0.329073;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=16759;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.168;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167095765;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1134,3270;ESP6500_AA_GTC=156,822,1224;ESP6500_CDS_SIZES=NM_001080426.1:3477;ESP6500_CG=-0.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=20;ESP6500_EA_AC=1470,7130;ESP6500_EA_GTC=121,1228,2951;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080426.1:missense;ESP6500_GL=DUSP27;ESP6500_GRCh38_POSITION=1:167126528;ESP6500_GS=29;ESP6500_GTC=277,2050,4175;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080426.1:c.1397G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080426.1:p.(R466H);ESP6500_MAF=17.093,25.7493,20.0246;ESP6500_PH=benign:0.004;ESP6500_TAC=2604,10400	GT:AD:DP:GQ:PL	0/1:18,17:35:99:437,0,485
chr1	167126644	rs3795605	G	A	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.542;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.577;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.929;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795605;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|5/5|c.1513G>A|p.Ala505Thr|1513/4034|1513/3477|505/1158||;p3_1000G_AA=G|||;p3_1000G_AC=1649;p3_1000G_AF=0.329273;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=17544;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.168;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167095881;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1135,3271;ESP6500_AA_AGE=404.2+/-333.0;ESP6500_AA_GTC=155,825,1223;ESP6500_CDS_SIZES=NM_001080426.1:3477;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=51;ESP6500_EA_AC=1464,7136;ESP6500_EA_AGE=276.8+/-292.5;ESP6500_EA_GTC=115,1234,2951;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080426.1:missense;ESP6500_GL=DUSP27;ESP6500_GRCh38_POSITION=1:167126644;ESP6500_GS=58;ESP6500_GTC=270,2059,4174;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080426.1:c.1513G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080426.1:p.(A505T);ESP6500_MAF=17.0233,25.7603,19.9831;ESP6500_PH=benign:0.001;ESP6500_TAC=2599,10407	GT:AD:DP:GQ:PL	0/1:22,24:46:99:678,0,581
chr1	167127694	rs267746	A	C	1028.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.15;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=2.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=-1.591;SOR=1.141;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs267746;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|5/5|c.2563A>C|p.Lys855Gln|2563/4034|2563/3477|855/1158||;p3_1000G_AA=A|||;p3_1000G_AC=1016;p3_1000G_AF=0.202875;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=22916;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.16;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167096931;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1654,2752;ESP6500_AA_AGE=503.5+/-365.6;ESP6500_AA_GTC=319,1016,868;ESP6500_CDS_SIZES=NM_001080426.1:3477;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=64;ESP6500_EA_AC=1479,7121;ESP6500_EA_AGE=281.4+/-295.0;ESP6500_EA_GTC=128,1223,2949;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080426.1:missense;ESP6500_GL=DUSP27;ESP6500_GRCh38_POSITION=1:167127694;ESP6500_GS=53;ESP6500_GTC=447,2239,3817;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080426.1:c.2563A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001080426.1:p.(K855Q);ESP6500_MAF=17.1977,37.5397,24.0889;ESP6500_PH=benign:0.038;ESP6500_TAC=3133,9873	GT:AD:DP:GQ:PL	0/1:25,34:59:99:1057,0,595
chr1	167128502	rs2281959	C	A	685.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.25;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=3.896;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.386;SOR=1.091;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2281959;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|5/5|c.3371C>A|p.Thr1124Asn|3371/4034|3371/3477|1124/1158||;p3_1000G_AA=C|||;p3_1000G_AC=1914;p3_1000G_AF=0.382188;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=20287;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.3141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167097739;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2894;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1248,3158;ESP6500_AA_AGE=428.7+/-342.0;ESP6500_AA_GTC=181,886,1136;ESP6500_CDS_SIZES=NM_001080426.1:3477;ESP6500_CG=0.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=2668,5932;ESP6500_EA_AGE=425.7+/-355.0;ESP6500_EA_GTC=433,1802,2065;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080426.1:missense;ESP6500_GL=DUSP27;ESP6500_GRCh38_POSITION=1:167128502;ESP6500_GS=65;ESP6500_GTC=614,2688,3201;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080426.1:c.3371C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080426.1:p.(T1124N);ESP6500_MAF=31.0233,28.325,30.1092;ESP6500_PH=benign:0.001;ESP6500_TAC=3916,9090	GT:AD:DP:GQ:PL	0/1:21,30:51:99:714,0,663
chr1	167128708	rs267747	G	A	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.679;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.107;SOR=0.917;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs267747;dbSNPBuildID=79;ANN=A|3_prime_UTR_variant|MODIFIER|DUSP27|DUSP27|transcript|NM_001080426.1|protein_coding|5/5|c.*100G>A|||||100|;p3_1000G_AA=G|||;p3_1000G_AC=1253;p3_1000G_AF=0.2502;p3_1000G_AFR_AF=0.5779;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=20867;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167097945;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,9:24:99:258,0,399
chr1	167375981	rs2273963	A	C	819.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273963;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_002697.3|protein_coding|6/15|c.592-48A>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198786.1|protein_coding|5/14|c.403-48A>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NR_037163.1|pseudogene|7/16|n.705-48A>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198783.1|protein_coding|6/15|c.559-48A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=633;p3_1000G_AF=0.126398;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=18477;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.2068;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167345218;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=312,4094;ESP6500_AA_AGE=160.7+/-193.0;ESP6500_AA_GTC=8,296,1899;ESP6500_CDS_SIZES=NM_002697.3:2301,NM_001198786.1:2112,NM_001198783.1:2268;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=46;ESP6500_EA_AC=1732,6866;ESP6500_EA_AGE=297.3+/-303.3;ESP6500_EA_GTC=180,1372,2747;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002697.3:intron,NM_001198786.1:intron,NM_001198783.1:intron;ESP6500_GL=POU2F1;ESP6500_GRCh38_POSITION=1:167375981;ESP6500_GTC=188,1668,4646;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002697.3:c.592-48A>C,NM_001198786.1:c.403-48A>C,NM_001198783.1:c.559-48A>C;ESP6500_MAF=20.1442,7.0813,15.7182;ESP6500_TAC=2044,10960	GT:AD:DP:GQ:PL	1/1:0,24:24:72:848,72,0
chr1	167384021	rs35617253;rs397981842	AT	A	83.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=5.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0;SOR=3.611;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35617253;dbSNPBuildID=126,138;ANN=A|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_002697.3|protein_coding|8/15|c.813+80delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198786.1|protein_coding|7/14|c.624+80delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NR_037163.1|pseudogene|9/16|n.926+80delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198783.1|protein_coding|8/15|c.780+80delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3841;p3_1000G_AF=0.766973;p3_1000G_AFR_AF=0.6952;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=13803;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.7227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167353258;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7536;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,5:7:36:121,0,36
chr1	167399063	rs3767435	G	C	268.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3767435;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_002697.3|protein_coding|11/15|c.1270-123G>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198786.1|protein_coding|10/14|c.1081-123G>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NR_037163.1|pseudogene|12/16|n.1383-123G>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198783.1|protein_coding|11/15|c.1237-123G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=316;p3_1000G_AF=0.063099;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=19765;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167368300;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:297,27,0
chr1	167412403	rs35736613;rs201285395	A	AG	884.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.61;SOR=2.4;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35736613;dbSNPBuildID=126;ANN=AG|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_002697.3|protein_coding|14/15|c.1901+99_1901+100insG||||||,AG|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198786.1|protein_coding|13/14|c.1712+99_1712+100insG||||||,AG|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NR_037163.1|pseudogene|15/16|n.2014+99_2014+100insG||||||,AG|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198783.1|protein_coding|14/15|c.1868+99_1868+100insG||||||;p3_1000G_AC=3204;p3_1000G_AF=0.639776;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=21329;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167381640;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,23:23:69:922,69,0
chr1	167413137	rs10753757	A	C	890.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.82;QD=34.26;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10753757;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_002697.3|protein_coding|15/15|c.1990+23A>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198786.1|protein_coding|14/14|c.1801+23A>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NR_037163.1|pseudogene|16/16|n.2103+23A>C||||||,C|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198783.1|protein_coding|15/15|c.1957+23A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3856;p3_1000G_AF=0.769968;p3_1000G_AFR_AF=0.7042;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=17418;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167382374;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3083,1323;ESP6500_AA_AGE=445.5+/-347.7;ESP6500_AA_GTC=1083,917,203;ESP6500_CDS_SIZES=NM_002697.3:2301,NM_001198786.1:2112,NM_001198783.1:2268;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=84;ESP6500_EA_AC=6076,2524;ESP6500_EA_AGE=412.9+/-351.0;ESP6500_EA_GTC=2164,1748,388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002697.3:intron,NM_001198786.1:intron,NM_001198783.1:intron;ESP6500_GL=POU2F1;ESP6500_GRCh38_POSITION=1:167413137;ESP6500_GTC=3247,2665,591;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002697.3:c.1990+23A>C,NM_001198786.1:c.1801+23A>C,NM_001198783.1:c.1957+23A>C;ESP6500_MAF=29.3488,30.0272,29.5787;ESP6500_TAC=9159,3847	GT:AD:DP:GQ:PL	1/1:0,26:26:78:919,78,0
chr1	167413162	rs112044990;rs67647055	AGTGT	A	457.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.66;QD=31.08;SOR=5.136;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67647055,rs72176559,rs112044990;dbSNPBuildID=135,132;ANN=A|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_002697.3|protein_coding|15/15|c.1990+72_1990+75delTGTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198786.1|protein_coding|14/14|c.1801+72_1801+75delTGTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NR_037163.1|pseudogene|16/16|n.2103+72_2103+75delTGTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198783.1|protein_coding|15/15|c.1957+72_1957+75delTGTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,9:9:35:443,35,0
chr1	167415941	rs1387931309	GAAA	G	28.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.253;SOR=0.307;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|3_prime_UTR_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_002697.3|protein_coding|16/16|c.*144_*146delAAA|||||144|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198786.1|protein_coding|15/15|c.*144_*146delAAA|||||144|INFO_REALIGN_3_PRIME,G|3_prime_UTR_variant|MODIFIER|POU2F1|POU2F1|transcript|NM_001198783.1|protein_coding|16/16|c.*144_*146delAAA|||||144|INFO_REALIGN_3_PRIME,G|non_coding_transcript_exon_variant|MODIFIER|POU2F1|POU2F1|transcript|NR_037163.1|pseudogene|17/17|n.2558_2560delAAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,241
chr1	167433975	rs952963	G	A	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.317;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=-0.277;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs952963;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CD247|CD247|transcript|NM_198053.2|protein_coding|6/7|c.393+45C>T||||||,A|intron_variant|MODIFIER|CD247|CD247|transcript|NM_000734.3|protein_coding|6/7|c.390+45C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=787;p3_1000G_AF=0.157149;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=18675;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.1173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167403212;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=906,3500;ESP6500_AA_AGE=348.2+/-309.8;ESP6500_AA_GTC=87,732,1384;ESP6500_CDS_SIZES=NM_198053.2:495,NM_000734.3:492;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=166;ESP6500_EA_AC=962,7638;ESP6500_EA_AGE=210.0+/-251.0;ESP6500_EA_GTC=50,862,3388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198053.2:intron,NM_000734.3:intron;ESP6500_GL=CD247;ESP6500_GRCh38_POSITION=1:167433975;ESP6500_GTC=137,1594,4772;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198053.2:c.393+45C>T,NM_000734.3:c.390+45C>T;ESP6500_MAF=11.186,20.5629,14.3626;ESP6500_TAC=1868,11138	GT:AD:DP:GQ:PL	0/1:25,14:39:99:308,0,765
chr1	167438449	rs2462553	T	C	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.28;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.419;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2462553;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CD247|CD247|transcript|NM_198053.2|protein_coding|4/7|c.300+121A>G||||||,C|intron_variant|MODIFIER|CD247|CD247|transcript|NM_000734.3|protein_coding|4/7|c.300+121A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4230;p3_1000G_AF=0.844649;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=17290;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.8817;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167407686;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:348,0,273
chr1	167439328	rs12141641	G	T	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.576;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.134;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-1.256;SOR=0.791;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12141641;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CD247|CD247|transcript|NM_198053.2|protein_coding|3/7|c.219+16C>A||||||,T|intron_variant|MODIFIER|CD247|CD247|transcript|NM_000734.3|protein_coding|3/7|c.219+16C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=719;p3_1000G_AF=0.14357;p3_1000G_AFR_AF=0.0719;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=16558;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.1282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167408565;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=339,4067;ESP6500_AA_AGE=178.7+/-207.4;ESP6500_AA_GTC=15,309,1879;ESP6500_CDS_SIZES=NM_198053.2:495,NM_000734.3:492;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=76;ESP6500_EA_AC=1005,7595;ESP6500_EA_AGE=216.7+/-255.6;ESP6500_EA_GTC=56,893,3351;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198053.2:intron,NM_000734.3:intron;ESP6500_GL=CD247;ESP6500_GRCh38_POSITION=1:167439328;ESP6500_GTC=71,1202,5230;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_198053.2:c.219+16C>A,NM_000734.3:c.219+16C>A;ESP6500_MAF=11.686,7.6941,10.3337;ESP6500_TAC=1344,11662	GT:AD:DP:GQ:PL	0/1:28,20:48:99:425,0,668
chr1	167546035	rs7513428	T	C	182.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7513428;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CREG1|CREG1|transcript|NM_003851.2|protein_coding|3/3|c.659+66A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4288;p3_1000G_AF=0.85623;p3_1000G_AFR_AF=0.7345;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=14956;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.8509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167515272;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:211,15,0
chr1	167630296	rs3738220	C	T	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738220;dbSNPBuildID=107;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|RCSD1|RCSD1|transcript|NM_052862.3|protein_coding|1/7|c.-128C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|RCSD1|RCSD1|transcript|NM_001322923.1|protein_coding|1/6|c.-128C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|RCSD1|RCSD1|transcript|NM_001322924.1|protein_coding|1/5|c.-128C>T||||||,T|5_prime_UTR_variant|MODIFIER|RCSD1|RCSD1|transcript|NM_052862.3|protein_coding|1/7|c.-128C>T|||||128|,T|5_prime_UTR_variant|MODIFIER|RCSD1|RCSD1|transcript|NM_001322923.1|protein_coding|1/6|c.-128C>T|||||128|,T|5_prime_UTR_variant|MODIFIER|RCSD1|RCSD1|transcript|NM_001322924.1|protein_coding|1/5|c.-128C>T|||||128|,T|non_coding_transcript_exon_variant|MODIFIER|RCSD1|RCSD1|transcript|NR_136519.1|pseudogene|1/3|n.104C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=624;p3_1000G_AF=0.124601;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=6425;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.1193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167599533;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:67:67,0,69
chr1	167722256	rs533288058	G	A	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.54;ReadPosRankSum=-0.712;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|MPZL1|MPZL1|transcript|NM_003953.5|protein_coding|1/5|c.91+14G>A||||||,A|intron_variant|MODIFIER|MPZL1|MPZL1|transcript|NM_001146191.1|protein_coding|1/2|c.91+14G>A||||||,A|intron_variant|MODIFIER|MPZL1|MPZL1|transcript|NM_024569.4|protein_coding|1/4|c.91+14G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=10272;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167691493;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,2:7:60:0|1:167722256_G_A:60,0,159
chr1	167765556	rs763283	C	T	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.929;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.721;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.539;SOR=1.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs763283;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|MPZL1|MPZL1|transcript|NM_003953.5|protein_coding|1/5|c.92-27C>T||||||,T|intron_variant|MODIFIER|MPZL1|MPZL1|transcript|NM_001146191.1|protein_coding|1/2|c.92-27C>T||||||,T|intron_variant|MODIFIER|MPZL1|MPZL1|transcript|NM_024569.4|protein_coding|1/4|c.92-27C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1115;p3_1000G_AF=0.222644;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=20564;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.164;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167734793;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=543,3863;ESP6500_AA_AGE=774.2+/-414.0;ESP6500_AA_GTC=28,487,1688;ESP6500_CDS_SIZES=NM_024569.4:630,NM_003953.5:810,NM_001146191.1:360;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=56;ESP6500_EA_AC=1286,7314;ESP6500_EA_AGE=757.7+/-407.5;ESP6500_EA_GTC=100,1086,3114;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024569.4:intron,NM_003953.5:intron,NM_001146191.1:intron;ESP6500_GL=MPZL1;ESP6500_GRCh38_POSITION=1:167765556;ESP6500_GTC=128,1573,4802;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024569.4:c.92-27C>T,NM_003953.5:c.92-27C>T,NM_001146191.1:c.92-27C>T;ESP6500_MAF=14.9535,12.3241,14.0627;ESP6500_TAC=1829,11177	GT:AD:DP:GQ:PL	0/1:12,13:25:99:327,0,326
chr1	167824498	rs535006366	T	G	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.573;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_018417.5|protein_coding|28/33|c.4030A>C|p.Arg1344Arg|4339/5432|4030/4833|1344/1610||,G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_001167749.2|protein_coding|25/30|c.3571A>C|p.Arg1191Arg|3884/4977|3571/4374|1191/1457||,G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_001297772.1|protein_coding|28/33|c.3754A>C|p.Arg1252Arg|4376/5469|3754/4557|1252/1518||;p3_1000G_AA=T|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20515;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167793736;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:240,0,319
chr1	167845792	rs12048517	A	G	1482.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.97;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0.894;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.77;ReadPosRankSum=-1.246;SOR=0.555;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12048517;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_018417.5|protein_coding|21/33|c.2778T>C|p.Ile926Ile|3087/5432|2778/4833|926/1610||,G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_001167749.2|protein_coding|18/30|c.2319T>C|p.Ile773Ile|2632/4977|2319/4374|773/1457||,G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_001297772.1|protein_coding|21/33|c.2502T>C|p.Ile834Ile|3124/5469|2502/4557|834/1518||;p3_1000G_AA=A|||;p3_1000G_AC=439;p3_1000G_AF=0.0876597;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=19829;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.0358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167815030;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=52,4354;ESP6500_AA_AGE=52.3+/-87.9;ESP6500_AA_GTC=0,52,2151;ESP6500_CDS_SIZES=NM_018417.4:4833,NM_001167749.1:4374;ESP6500_CG=-4.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=110;ESP6500_EA_AC=225,8375;ESP6500_EA_AGE=94.2+/-156.2;ESP6500_EA_GTC=5,215,4080;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018417.4:coding-synonymous,NM_001167749.1:coding-synonymous;ESP6500_GL=ADCY10;ESP6500_GRCh38_POSITION=1:167845792;ESP6500_GTC=5,267,6231;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018417.4:c.2778T>C,NM_001167749.1:c.2319T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018417.4:p.(I926),NM_001167749.1:p.(I773);ESP6500_MAF=2.6163,1.1802,2.1298;ESP6500_TAC=277,12729	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1511,0,854
chr1	167848401	rs203795	A	G	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=1.19;SOR=0.603;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs203795;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_018417.5|protein_coding|19/33|c.2397T>C|p.Gly799Gly|2706/5432|2397/4833|799/1610||,G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_001167749.2|protein_coding|16/30|c.1938T>C|p.Gly646Gly|2251/4977|1938/4374|646/1457||,G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_001297772.1|protein_coding|19/33|c.2121T>C|p.Gly707Gly|2743/5469|2121/4557|707/1518||;p3_1000G_AA=A|||;p3_1000G_AC=4117;p3_1000G_AF=0.822085;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=17393;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167817639;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3954,452;ESP6500_AA_AGE=784.3+/-414.7;ESP6500_AA_GTC=1771,412,20;ESP6500_CDS_SIZES=NM_018417.4:4833,NM_001167749.1:4374;ESP6500_CG=-2.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=95;ESP6500_EA_AC=6103,2497;ESP6500_EA_AGE=694.6+/-404.7;ESP6500_EA_GTC=2158,1787,355;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018417.4:coding-synonymous,NM_001167749.1:coding-synonymous;ESP6500_GL=ADCY10;ESP6500_GRCh38_POSITION=1:167848401;ESP6500_GTC=3929,2199,375;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018417.4:c.2397T>C,NM_001167749.1:c.1938T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018417.4:p.(G799),NM_001167749.1:p.(G646);ESP6500_MAF=29.0349,10.2587,22.6742;ESP6500_TAC=10057,2949	GT:AD:DP:GQ:PL	0/1:12,15:27:99:457,0,283
chr1	167854267	rs3738235	G	A	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.125;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.725;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.413;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738235;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_018417.5|protein_coding|18/32|c.2308+86C>T||||||,A|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_001167749.2|protein_coding|15/29|c.1849+86C>T||||||,A|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_001297772.1|protein_coding|18/32|c.2032+86C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=431;p3_1000G_AF=0.0860623;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=19688;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.0368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167823505;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,14:32:99:0|1:167854267_G_A:557,0,1228
chr1	167854274	rs3738236	T	C	608.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.089;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=-0.638;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738236;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_018417.5|protein_coding|18/32|c.2308+79A>G||||||,C|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_001167749.2|protein_coding|15/29|c.1849+79A>G||||||,C|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_001297772.1|protein_coding|18/32|c.2032+79A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3189;p3_1000G_AF=0.636781;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=19599;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167823512;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,17:35:99:0|1:167854267_G_A:637,0,1219
chr1	167856247	rs2071921	T	C	398.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.56;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.874;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7;ReadPosRankSum=0.942;SOR=1.15;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2071921;dbSNPBuildID=96;ANN=C|missense_variant|MODERATE|ADCY10|ADCY10|transcript|NM_018417.5|protein_coding|17/33|c.2089A>G|p.Ile697Val|2398/5432|2089/4833|697/1610||,C|missense_variant|MODERATE|ADCY10|ADCY10|transcript|NM_001167749.2|protein_coding|14/30|c.1630A>G|p.Ile544Val|1943/4977|1630/4374|544/1457||,C|missense_variant|MODERATE|ADCY10|ADCY10|transcript|NM_001297772.1|protein_coding|17/33|c.1813A>G|p.Ile605Val|2435/5469|1813/4557|605/1518||;p3_1000G_AA=t|||;p3_1000G_AC=2527;p3_1000G_AF=0.504593;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=19993;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.4105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167825485;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2032,2374;ESP6500_AA_AGE=563.4+/-381.2;ESP6500_AA_GTC=471,1090,642;ESP6500_CDS_SIZES=NM_018417.4:4833,NM_001167749.1:4374;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=271;ESP6500_EA_AC=3436,5164;ESP6500_EA_AGE=506.2+/-376.5;ESP6500_EA_GTC=692,2052,1556;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018417.4:missense,NM_001167749.1:missense;ESP6500_GL=ADCY10;ESP6500_GRCh38_POSITION=1:167856247;ESP6500_GS=29,29;ESP6500_GTC=1163,3142,2198;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018417.4:c.2089A>G,NM_001167749.1:c.1630A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018417.4:p.(I697V),NM_001167749.1:p.(I544V);ESP6500_MAF=39.9535,46.1189,42.0421;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=5468,7538	GT:AD:DP:GQ:PL	0/1:39,18:57:99:427,0,916
chr1	167856368	rs2071922	A	G	433.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.1;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.228;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.568;SOR=1.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2071922;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_018417.5|protein_coding|17/33|c.1968T>C|p.Phe656Phe|2277/5432|1968/4833|656/1610||,G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_001167749.2|protein_coding|14/30|c.1509T>C|p.Phe503Phe|1822/4977|1509/4374|503/1457||,G|synonymous_variant|LOW|ADCY10|ADCY10|transcript|NM_001297772.1|protein_coding|17/33|c.1692T>C|p.Phe564Phe|2314/5469|1692/4557|564/1518||;p3_1000G_AA=A|||;p3_1000G_AC=1043;p3_1000G_AF=0.208267;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=20424;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.1272;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167825606;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=417,3989;ESP6500_AA_AGE=203.1+/-225.7;ESP6500_AA_GTC=18,381,1804;ESP6500_CDS_SIZES=NM_018417.4:4833,NM_001167749.1:4374;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=181;ESP6500_EA_AC=964,7636;ESP6500_EA_AGE=211.1+/-251.8;ESP6500_EA_GTC=64,836,3400;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018417.4:coding-synonymous,NM_001167749.1:coding-synonymous;ESP6500_GL=ADCY10;ESP6500_GRCh38_POSITION=1:167856368;ESP6500_GTC=82,1217,5204;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018417.4:c.1968T>C,NM_001167749.1:c.1509T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018417.4:p.(F656),NM_001167749.1:p.(F503);ESP6500_MAF=11.2093,9.4644,10.6182;ESP6500_TAC=1381,11625	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,17:44:99:1|0:167856364_C_A:462,0,649
chr1	167860768	rs7518237	G	C	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.099;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.046;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7518237;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_018417.5|protein_coding|15/32|c.1809+103C>G||||||,C|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_001167749.2|protein_coding|12/29|c.1350+103C>G||||||,C|intron_variant|MODIFIER|ADCY10|ADCY10|transcript|NM_001297772.1|protein_coding|15/32|c.1533+103C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1539;p3_1000G_AF=0.307308;p3_1000G_AFR_AF=0.4092;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=21814;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.1372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167830006;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:222,0,222
chr1	168056300	rs3977723	T	C	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.247;MLEAC=1;MLEAF=0.5;MQ=58.12;MQRankSum=-0.303;QD=15.99;ReadPosRankSum=-0.303;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3977723;dbSNPBuildID=108;ANN=C|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_001017977.2|protein_coding|14/18|c.2028-7321T>C||||||,C|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_018442.3|protein_coding|15/19|c.2088-7321T>C||||||,C|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198956.1|protein_coding|17/21|c.2300+5367T>C||||||,C|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001017977.2|protein_coding|14/18|c.2028-7321T>C||||||,C|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198957.1|protein_coding|16/20|c.2207+5367T>C||||||,C|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_018442.3|protein_coding|15/19|c.2088-7321T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=3099;p3_1000G_AF=0.61881;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=16625;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.5577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168025538;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,19:32:99:540,0,285
chr1	168056339	rs7535741	C	T	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.48;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.1;MQRankSum=0.448;QD=4.07;ReadPosRankSum=-0.479;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7535741;dbSNPBuildID=116;ANN=T|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_001017977.2|protein_coding|14/18|c.2028-7282C>T||||||,T|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_018442.3|protein_coding|15/19|c.2088-7282C>T||||||,T|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198956.1|protein_coding|17/21|c.2300+5406C>T||||||,T|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001017977.2|protein_coding|14/18|c.2028-7282C>T||||||,T|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198957.1|protein_coding|16/20|c.2207+5406C>T||||||,T|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_018442.3|protein_coding|15/19|c.2088-7282C>T||||||	GT:AD:DP:GQ:PL	0/1:17,7:24:99:126,0,512
chr1	168056390	rs7535915	G	A	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.003;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=53.02;MQRankSum=-0.819;QD=9.05;ReadPosRankSum=0.003;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7535915;dbSNPBuildID=116;ANN=A|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_001017977.2|protein_coding|14/18|c.2028-7231G>A||||||,A|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_018442.3|protein_coding|15/19|c.2088-7231G>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198956.1|protein_coding|17/21|c.2300+5457G>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001017977.2|protein_coding|14/18|c.2028-7231G>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198957.1|protein_coding|16/20|c.2207+5457G>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_018442.3|protein_coding|15/19|c.2088-7231G>A||||||	GT:AD:DP:GQ:PL	0/1:9,5:14:99:155,0,259
chr1	168056426	rs7535844	C	A	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.63;MQRankSum=-0.842;QD=5.46;ReadPosRankSum=0;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7535844;dbSNPBuildID=116;ANN=A|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_001017977.2|protein_coding|14/18|c.2028-7195C>A||||||,A|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_018442.3|protein_coding|15/19|c.2088-7195C>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198956.1|protein_coding|17/21|c.2300+5493C>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001017977.2|protein_coding|14/18|c.2028-7195C>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198957.1|protein_coding|16/20|c.2207+5493C>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_018442.3|protein_coding|15/19|c.2088-7195C>A||||||	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,128
chr1	168056453	rs370244393	C	A	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=48.27;MQRankSum=-0.674;QD=15.15;ReadPosRankSum=-0.524;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNPBuildID=138;ANN=A|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_001017977.2|protein_coding|14/18|c.2028-7168C>A||||||,A|sequence_feature|LOW|DCAF6|DCAF6|domain:IQ|NM_018442.3|protein_coding|15/19|c.2088-7168C>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198956.1|protein_coding|17/21|c.2300+5520C>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001017977.2|protein_coding|14/18|c.2028-7168C>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_001198957.1|protein_coding|16/20|c.2207+5520C>A||||||,A|intron_variant|MODIFIER|DCAF6|DCAF6|transcript|NM_018442.3|protein_coding|15/19|c.2088-7168C>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=11401;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168025691;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:63:104,0,63
chr1	168137478	rs6664903	T	C	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.935;SOR=0.737;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6664903;dbSNPBuildID=116;ANN=C|5_prime_UTR_variant|MODIFIER|GPR161|GPR161|transcript|NM_001267609.1|protein_coding|1/7|c.-429A>G|||||2557|,C|5_prime_UTR_variant|MODIFIER|GPR161|GPR161|transcript|NM_001267611.1|protein_coding|1/6|c.-82A>G|||||82|,C|5_prime_UTR_variant|MODIFIER|GPR161|GPR161|transcript|NM_001267614.1|protein_coding|1/5|c.-57A>G|||||57|,C|5_prime_UTR_variant|MODIFIER|GPR161|GPR161|transcript|NM_001267610.1|protein_coding|1/7|c.-452A>G|||||32628|,C|upstream_gene_variant|MODIFIER|GPR161|GPR161|transcript|NM_001267612.1|protein_coding||c.-40268A>G|||||1042|,C|upstream_gene_variant|MODIFIER|GPR161|GPR161|transcript|NM_001267613.1|protein_coding||c.-1082A>G|||||771|,C|upstream_gene_variant|MODIFIER|GPR161|GPR161|transcript|NM_153832.2|protein_coding||c.-32628A>G|||||771|;p3_1000G_AA=C|||;p3_1000G_AC=4265;p3_1000G_AF=0.851637;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=16108;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.8052;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168106716;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,21:45:99:618,0,690
chr1	168183852	rs2038035	A	T	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.991;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.873;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.277;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2038035;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|TIPRL|TIPRL|transcript|NM_152902.4|protein_coding|1/6|c.105-50A>T||||||,T|intron_variant|MODIFIER|TIPRL|TIPRL|transcript|NM_001031800.2|protein_coding|1/4|c.105-50A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1638;p3_1000G_AF=0.327077;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=17467;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168153090;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1606,2800;ESP6500_AA_AGE=440.4+/-346.0;ESP6500_AA_GTC=293,1020,890;ESP6500_CDS_SIZES=NM_152902.3:819,NM_001031800.1:537;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=58;ESP6500_EA_AC=1708,6892;ESP6500_EA_AGE=277.8+/-293.0;ESP6500_EA_GTC=157,1394,2749;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152902.3:intron,NM_001031800.1:intron;ESP6500_GL=TIPRL;ESP6500_GRCh38_POSITION=1:168183852;ESP6500_GTC=450,2414,3639;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_152902.3:c.105-50A>T,NM_001031800.1:c.105-50A>T;ESP6500_MAF=19.8605,36.4503,25.4805;ESP6500_TAC=3314,9692	GT:AD:DP:GQ:PL	0/1:13,16:29:99:364,0,410
chr1	168184132	rs2038034	A	G	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.12;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=4.472;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-2.139;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2038034;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|TIPRL|TIPRL|transcript|NM_152902.4|protein_coding|2/6|c.284+51A>G||||||,G|intron_variant|MODIFIER|TIPRL|TIPRL|transcript|NM_001031800.2|protein_coding|2/4|c.284+51A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=20404;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168153370;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1694,2712;ESP6500_AA_GTC=322,1050,831;ESP6500_CDS_SIZES=NM_152902.3:819,NM_001031800.1:537;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=28;ESP6500_EA_AC=1726,6874;ESP6500_EA_GTC=159,1408,2733;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152902.3:intron,NM_001031800.1:intron;ESP6500_GL=TIPRL;ESP6500_GRCh38_POSITION=1:168184132;ESP6500_GTC=481,2458,3564;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152902.3:c.284+51A>G,NM_001031800.1:c.284+51A>G;ESP6500_MAF=20.0698,38.4476,26.2956;ESP6500_TAC=3420,9586	GT:AD:DP:GQ:PL	0/1:9,5:14:99:125,0,297
chr1	168196529	rs35234155;rs550715147;rs59876096	CT	C	45.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.16;ReadPosRankSum=-0.166;SOR=1.981;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35234155,rs59876096;dbSNPBuildID=126,142,129;ANN=C|splice_region_variant&intron_variant|LOW|TIPRL|TIPRL|transcript|NM_152902.4|protein_coding|4/6|c.517-5delT||||||INFO_REALIGN_3_PRIME,C|downstream_gene_variant|MODIFIER|TIPRL|TIPRL|transcript|NM_001031800.2|protein_coding||c.*4302delT|||||4135|	GT:AD:DP:GQ:PL	0/1:6,5:11:83:83,0,126
chr1	168293288	rs199592560	TG	T	418.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=9.966;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.666;SOR=2.122;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs199592560;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|TBX19|TBX19|transcript|NM_005149.2|protein_coding|3/7|c.603+11delG||||||	GT:AD:DP:GQ:PL	0/1:10,17:27:99:456,0,209
chr1	168293290	rs766428546	TG	T	362.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.21;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=7.701;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.15;ReadPosRankSum=0.307;SOR=2.252;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|TBX19|TBX19|transcript|NM_005149.2|protein_coding|3/7|c.603+13delG||||||	GT:AD:DP:GQ:PL	0/1:10,8:18:99:400,0,259
chr1	168304933	rs16860326	A	G	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.278;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16860326;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|TBX19|TBX19|transcript|NM_005149.2|protein_coding|5/7|c.728-75A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=507;p3_1000G_AF=0.101238;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=19739;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168274171;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:222,0,240
chr1	168304963	rs4656579	G	A	429.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.835;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=2.124;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-1.572;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4656579;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TBX19|TBX19|transcript|NM_005149.2|protein_coding|5/7|c.728-45G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2442;p3_1000G_AF=0.48762;p3_1000G_AFR_AF=0.4357;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=20166;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168274201;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2171,2235;ESP6500_AA_AGE=574.5+/-383.8;ESP6500_AA_GTC=553,1065,585;ESP6500_CDS_SIZES=NM_005149.2:1347;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=76;ESP6500_EA_AC=6064,2536;ESP6500_EA_AGE=687.0+/-404.2;ESP6500_EA_GTC=2151,1762,387;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005149.2:intron;ESP6500_GL=TBX19;ESP6500_GRCh38_POSITION=1:168304963;ESP6500_GTC=2704,2827,972;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005149.2:c.728-45G>A;ESP6500_MAF=29.4884,49.2737,36.6831;ESP6500_TAC=8235,4771	GT:AD:DP:GQ:PL	0/1:12,16:28:99:458,0,376
chr1	168540884	rs470733	T	A	903.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=5.761;MLEAC=1;MLEAF=0.5;MQ=53.83;MQRankSum=-8.297;QD=12.05;ReadPosRankSum=-0.702;SOR=0.256;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs470733;dbSNPBuildID=83;ANN=A|3_prime_UTR_variant|MODIFIER|XCL2|XCL2|transcript|NM_003175.3|protein_coding|3/3|c.*68A>T|||||68|;p3_1000G_AA=A|||;p3_1000G_AC=3143;p3_1000G_AF=0.627596;p3_1000G_AFR_AF=0.4818;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=16918;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.5398;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168510122;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,35:75:99:932,0,1094
chr1	168541266	rs200826337	C	T	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.557;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.32;MQRankSum=-2.674;QD=7.54;ReadPosRankSum=-0.756;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200826337;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|XCL2|XCL2|transcript|NM_003175.3|protein_coding|2/2|c.177-146G>A||||||	GT:AD:DP:GQ:PL	0/1:11,7:18:99:164,0,422
chr1	168541917	rs76400946	T	C	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.753;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.54;MQRankSum=-1.109;QD=9.08;ReadPosRankSum=1.27;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76400946;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|XCL2|XCL2|transcript|NM_003175.3|protein_coding|2/2|c.176+76A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3314;p3_1000G_AF=0.661741;p3_1000G_AFR_AF=0.6059;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=17271;p3_1000G_EAS_AF=0.8661;p3_1000G_EUR_AF=0.5427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168511155;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,9:22:99:0|1:168541910_C_A:228,0,319
chr1	168576520	rs28433337	C	T	308.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.67;QD=34.31;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28433337;dbSNPBuildID=125;ANN=T|5_prime_UTR_variant|MODIFIER|XCL1|XCL1|transcript|NM_002995.2|protein_coding|1/3|c.-118C>T|||||118|;p3_1000G_AA=C|||;p3_1000G_AC=2024;p3_1000G_AF=0.404153;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=15916;p3_1000G_EAS_AF=0.3641;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168545758;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:337,27,0
chr1	168576711	rs34933908	G	A	1096.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.12;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34933908;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|XCL1|XCL1|transcript|NM_002995.2|protein_coding|1/2|c.61+13G>A||||||	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1125,117,0
chr1	168580184	rs6427130	C	T	1660.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.15;SOR=1.123;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427130;dbSNPBuildID=116;ANN=T|splice_region_variant&intron_variant|LOW|XCL1|XCL1|transcript|NM_002995.2|protein_coding|2/2|c.176+7C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2125;p3_1000G_AF=0.424321;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=16361;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.5706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168549422;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2297,2109;ESP6500_AA_AGE=573.2+/-383.5;ESP6500_AA_GTC=604,1089,510;ESP6500_CDS_SIZES=NM_002995.2:345;ESP6500_CG=-2.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=120;ESP6500_EA_AC=4696,3904;ESP6500_EA_AGE=544.2+/-384.5;ESP6500_EA_GTC=1250,2196,854;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002995.2:intron;ESP6500_GL=XCL1;ESP6500_GRCh38_POSITION=1:168580184;ESP6500_GTC=1854,3285,1364;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002995.2:c.176+7C>T;ESP6500_MAF=45.3953,47.8665,46.2325;ESP6500_TAC=6993,6013	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1689,177,0
chr1	168581297	rs1042882	A	G	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.62;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=6;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=0.547;SOR=2.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79981832;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|XCL1|XCL1|transcript|NM_002995.2|protein_coding|3/3|c.*77A>G|||||77|;p3_1000G_AA=A|||;p3_1000G_AC=690;p3_1000G_AF=0.13778;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs79981832;p3_1000G_DP=19714;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0.3072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168550535;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:39,14:53:99:401,0,1003
chr1	169124862	rs968304	T	A	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.289;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.218;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs968304;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|ATP1B1|ATP1B1|transcript|NM_001677.3|protein_coding|2/5|c.227-22T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3295;p3_1000G_AF=0.657947;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=20412;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.5994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169094100;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2956,1450;ESP6500_AA_AGE=464.9+/-354.0;ESP6500_AA_GTC=996,964,243;ESP6500_CDS_SIZES=NM_001677.3:912;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=78;ESP6500_EA_AC=5030,3570;ESP6500_EA_AGE=516.6+/-378.9;ESP6500_EA_GTC=1456,2118,726;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001677.3:intron;ESP6500_GL=ATP1B1;ESP6500_GRCh38_POSITION=1:169124862;ESP6500_GTC=2452,3082,969;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001677.3:c.227-22T>A;ESP6500_MAF=41.5116,32.9097,38.5976;ESP6500_TAC=7986,5020	GT:AD:DP:GQ:PL	0/1:12,14:26:99:386,0,350
chr1	169132697	rs1138486	C	T	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.786;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=0.808;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1138486;dbSNPBuildID=110;ANN=T|3_prime_UTR_variant|MODIFIER|ATP1B1|ATP1B1|transcript|NM_001677.3|protein_coding|6/6|c.*1142C>T|||||1142|,T|3_prime_UTR_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|12/12|c.*88G>A|||||88|,T|3_prime_UTR_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|12/12|c.*88G>A|||||88|,T|non_coding_transcript_exon_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|13/13|n.1535G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1346;p3_1000G_AF=0.26877;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=18994;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169101935;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,9:29:99:199,0,574
chr1	169132942	rs143626818;rs3060498;rs869203791;rs879019003	TAATC	T	127.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.55;ReadPosRankSum=0;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143626818;dbSNPBuildID=147,134,147,138;ANN=T|downstream_gene_variant|MODIFIER|ATP1B1|ATP1B1|transcript|NM_001677.3|protein_coding||c.*1388_*1391delAATC|||||221|,T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|11/11|c.1099-129_1099-126delGATT||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|11/11|c.991-129_991-126delGATT||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|12/12|n.1415-129_1415-126delGATT||||||	GT:AD:DP:GQ:PL	0/1:1,4:5:45:165,0,45
chr1	169169630	rs3737681	C	T	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.534;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-1.521;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737681;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|10/11|c.991-76G>A||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|10/11|c.883-76G>A||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|11/12|n.1307-76G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2006;p3_1000G_AF=0.400559;p3_1000G_AFR_AF=0.2526;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=18060;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169138868;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:139,0,231
chr1	169190628	rs7526721	G	T	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.03;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.599;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7526721;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|10/11|c.991-21074C>A||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|10/11|c.883-21074C>A||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|11/12|n.1306+15C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2386;p3_1000G_AF=0.476438;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=11914;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.508;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169159866;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:151,0,120
chr1	169230873	rs10800420	C	T	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10800420;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|9/11|c.889-54G>A||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|9/11|c.781-54G>A||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|9/12|n.1142-54G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2059;p3_1000G_AF=0.411142;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=13318;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169200111;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:68:111,0,68
chr1	169234981	rs10919102	G	A	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.935;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10919102;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|9/11|c.888+150C>T||||||,A|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|9/11|c.780+150C>T||||||,A|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|9/12|n.1141+150C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=555;p3_1000G_AF=0.110823;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=17271;p3_1000G_EAS_AF=0.1329;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169204219;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:99:107,0,102
chr1	169237506	rs34246691	T	C	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=-0.335;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34246691;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|8/11|c.819+117A>G||||||,C|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|8/11|c.711+117A>G||||||,C|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|8/12|n.1072+117A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=910;p3_1000G_AF=0.181709;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=16517;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169206744;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,5:14:99:1|0:169237497_C_A:142,0,281
chr1	169237756	rs35686505;rs5778610;~rs5778610	A	AT	15.87	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.29;ReadPosRankSum=-0.967;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5778610,rs35686505;dbSNPBuildID=126,130;ANN=AT|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|7/11|c.755-70dupA||||||,AT|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|7/11|c.647-70dupA||||||,AT|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|7/12|n.1008-70dupA||||||;p3_1000G_AA=TTTTTT|TTTTTT|TTTTTTT|insertion;p3_1000G_AC=924;p3_1000G_AF=0.184505;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=15414;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169206994;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=INDEL;ESP6500_AA_AC=106,4086;ESP6500_AA_GTC=9,88,1999;ESP6500_CDS_SIZES=NM_197972.1:1023,NM_013330.3:1131;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=17;ESP6500_EA_AC=152,8018;ESP6500_EA_GTC=5,142,3938;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_197972.1:intron,NM_013330.3:intron;ESP6500_GL=NME7;ESP6500_GRCh38_POSITION=1:169237756;ESP6500_GTC=14,230,5937;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_197972.1:c.647-70_647-69insA,NM_013330.3:c.755-70_755-69insA;ESP6500_MAF=1.8605,2.5286,2.087;ESP6500_TAC=258,12104	GT:AD:DP:GQ:PL	0/1:1,2:3:22:53,0,22
chr1	169247174	rs2040445	C	G	297.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2040445;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|7/11|c.755-9487G>C||||||,G|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|7/11|c.647-9487G>C||||||,G|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|7/12|n.1008-9487G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4972;p3_1000G_AF=0.992812;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=20368;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169216412;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:326,24,0
chr1	169303213	rs10800427	A	T	961.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10800427;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|4/11|c.390-18T>A||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|4/11|c.282-18T>A||||||,T|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|4/12|n.643-18T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4918;p3_1000G_AF=0.982029;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=11454;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169272451;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4349,41;ESP6500_AA_GTC=2155,39,1;ESP6500_CDS_SIZES=NM_197972.1:1023,NM_013330.3:1131;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=28;ESP6500_EA_AC=8128,446;ESP6500_EA_GTC=3858,412,17;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_197972.1:intron,NM_013330.3:intron;ESP6500_GL=NME7;ESP6500_GRCh38_POSITION=1:169303213;ESP6500_GTC=6013,451,18;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_197972.1:c.282-18T>A,NM_013330.3:c.390-18T>A;ESP6500_MAF=5.2018,0.9339,3.7566;ESP6500_TAC=12477,487	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:169303213_A_T:990,66,0
chr1	169303215	rs10800428	G	A	961.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10800428;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|4/11|c.390-20C>T||||||,A|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|4/11|c.282-20C>T||||||,A|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|4/12|n.643-20C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4922;p3_1000G_AF=0.982827;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=11514;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169272453;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4351,41;ESP6500_AA_GTC=2156,39,1;ESP6500_CDS_SIZES=NM_197972.1:1023,NM_013330.3:1131;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=28;ESP6500_EA_AC=8128,444;ESP6500_EA_GTC=3857,414,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_197972.1:intron,NM_013330.3:intron;ESP6500_GL=NME7;ESP6500_GRCh38_POSITION=1:169303215;ESP6500_GTC=6013,453,16;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_197972.1:c.282-20C>T,NM_013330.3:c.390-20C>T;ESP6500_MAF=5.1797,0.9335,3.7411;ESP6500_TAC=12479,485	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:169303213_A_T:990,66,0
chr1	169324588	rs3213587	G	C	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.066;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.066;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213587;dbSNPBuildID=106;ANN=C|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|1/11|c.4-88C>G||||||,C|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|1/11|c.-74-119C>G||||||,C|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|1/12|n.257-88C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=987;p3_1000G_AF=0.197085;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=18925;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169293826;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:180,0,218
chr1	169324602	rs3213586	T	C	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=0.619;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213586;dbSNPBuildID=106;ANN=C|intron_variant|MODIFIER|NME7|NME7|transcript|NM_013330.4|protein_coding|1/11|c.4-102A>G||||||,C|intron_variant|MODIFIER|NME7|NME7|transcript|NM_197972.2|protein_coding|1/11|c.-74-133A>G||||||,C|intron_variant|MODIFIER|NME7|NME7|transcript|NR_104229.1|pseudogene|1/12|n.257-102A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=987;p3_1000G_AF=0.197085;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=19124;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169293840;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:106,0,160
chr1	169376630	rs1028180	A	G	245.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.794;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.047;SOR=0.243;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1028180;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|BLZF1|BLZF1|transcript|NM_001320973.1|protein_coding|3/7|c.119A>G|p.Gln40Arg|633/2840|119/1203|40/400||,G|missense_variant|MODERATE|BLZF1|BLZF1|transcript|NM_001320972.1|protein_coding|3/3|c.119A>G|p.Gln40Arg|633/1386|119/525|40/174||,G|missense_variant|MODERATE|BLZF1|BLZF1|transcript|NM_003666.3|protein_coding|3/8|c.119A>G|p.Gln40Arg|633/2393|119/1203|40/400||;p3_1000G_AA=A|||;p3_1000G_AC=1018;p3_1000G_AF=0.203275;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=17936;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169345868;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=350,4056;ESP6500_AA_AGE=181.5+/-209.5;ESP6500_AA_GTC=15,320,1868;ESP6500_CDS_SIZES=NM_003666.2:1203;ESP6500_CG=5.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=91;ESP6500_EA_AC=166,8434;ESP6500_EA_AGE=77.8+/-140.4;ESP6500_EA_GTC=1,164,4135;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003666.2:missense;ESP6500_GL=BLZF1;ESP6500_GRCh38_POSITION=1:169376630;ESP6500_GS=43;ESP6500_GTC=16,484,6003;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003666.2:c.119A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003666.2:p.(Q40R);ESP6500_MAF=1.9302,7.9437,3.9674;ESP6500_PH=possibly-damaging:0.902;ESP6500_TAC=516,12490	GT:AD:DP:GQ:PL	0/1:9,10:19:99:274,0,236
chr1	169378307	rs2271762	G	A	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.178;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=1.55;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271762;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_001320972.1|protein_coding||c.*1271G>A|||||924|,A|intron_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_001320973.1|protein_coding|3/6|c.469-23G>A||||||,A|intron_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_003666.3|protein_coding|3/7|c.469-23G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=911;p3_1000G_AF=0.181909;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=17115;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169347545;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=72,4334;ESP6500_AA_AGE=64.7+/-102.0;ESP6500_AA_GTC=2,68,2133;ESP6500_CDS_SIZES=NM_003666.2:1203;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=156,8444;ESP6500_EA_AGE=74.8+/-137.4;ESP6500_EA_GTC=1,154,4145;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003666.2:intron;ESP6500_GL=BLZF1;ESP6500_GRCh38_POSITION=1:169378307;ESP6500_GTC=3,222,6278;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003666.2:c.469-23G>A;ESP6500_MAF=1.814,1.6341,1.753;ESP6500_TAC=228,12778	GT:AD:DP:GQ:PL	0/1:7,6:13:99:149,0,219
chr1	169380676	rs56859218	G	T	626.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.893;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0.215;SOR=0.393;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56859218;dbSNPBuildID=129;ANN=T|downstream_gene_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_001320972.1|protein_coding||c.*3640G>T|||||3293|,T|intron_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_001320973.1|protein_coding|5/6|c.797+67G>T||||||,T|intron_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_003666.3|protein_coding|5/7|c.797+67G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=601;p3_1000G_AF=0.120008;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=19176;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169349914;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,22:38:99:655,0,477
chr1	169382358	rs3905328	A	G	259.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.18;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3905328;dbSNPBuildID=108;ANN=G|downstream_gene_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_001320972.1|protein_coding||c.*5322A>G|||||4975|,G|intron_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_001320973.1|protein_coding|6/6|c.1017+77A>G||||||,G|intron_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_003666.3|protein_coding|6/7|c.1017+77A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3451;p3_1000G_AF=0.689097;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=18431;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.67;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169351596;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:288,21,0
chr1	169397278	rs2272801	G	A	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.079;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.537;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.36;ReadPosRankSum=0.208;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272801;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|CCDC181|CCDC181|transcript|NM_001300969.1|protein_coding|5/6|c.1329C>T|p.Phe443Phe|1539/1917|1329/1530|443/509||,A|synonymous_variant|LOW|CCDC181|CCDC181|transcript|NM_021179.2|protein_coding|5/6|c.1326C>T|p.Phe442Phe|1536/1914|1326/1527|442/508||,A|synonymous_variant|LOW|CCDC181|CCDC181|transcript|NM_001300968.1|protein_coding|6/7|c.1326C>T|p.Phe442Phe|1834/2212|1326/1527|442/508||,A|downstream_gene_variant|MODIFIER|BLZF1|BLZF1|transcript|NM_003666.3|protein_coding||c.*10096G>A|||||736|;p3_1000G_AA=G|||;p3_1000G_AC=1017;p3_1000G_AF=0.203075;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=13603;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169366516;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=344,4062;ESP6500_AA_AGE=178.3+/-207.1;ESP6500_AA_GTC=15,314,1874;ESP6500_CDS_SIZES=NM_021179.1:1527;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=125;ESP6500_EA_AC=159,8441;ESP6500_EA_AGE=75.4+/-138.0;ESP6500_EA_GTC=1,157,4142;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021179.1:coding-synonymous;ESP6500_GL=C1orf114;ESP6500_GRCh38_POSITION=1:169397278;ESP6500_GTC=16,471,6016;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021179.1:c.1326C>T;ESP6500_HGVS_PROTEIN_VAR=NM_021179.1:p.(F442);ESP6500_MAF=1.8488,7.8075,3.8674;ESP6500_TAC=503,12503	GT:AD:DP:GQ:PL	0/1:20,10:30:99:219,0,513
chr1	169418955	rs3765229	T	C	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.54;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=2.43;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765229;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CCDC181|CCDC181|transcript|NM_001300969.1|protein_coding|4/5|c.1215+58A>G||||||,C|intron_variant|MODIFIER|CCDC181|CCDC181|transcript|NM_021179.2|protein_coding|4/5|c.1215+58A>G||||||,C|intron_variant|MODIFIER|CCDC181|CCDC181|transcript|NM_001300968.1|protein_coding|5/6|c.1215+58A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1018;p3_1000G_AF=0.203275;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=15473;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.0308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169388193;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,9:28:99:257,0,595
chr1	169421916	rs3820059	A	G	1434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=1.005;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820059;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|CCDC181|CCDC181|transcript|NM_001300969.1|protein_coding|3/6|c.515T>C|p.Phe172Ser|725/1917|515/1530|172/509||,G|missense_variant|MODERATE|CCDC181|CCDC181|transcript|NM_021179.2|protein_coding|3/6|c.515T>C|p.Phe172Ser|725/1914|515/1527|172/508||,G|missense_variant|MODERATE|CCDC181|CCDC181|transcript|NM_001300968.1|protein_coding|4/7|c.515T>C|p.Phe172Ser|1023/2212|515/1527|172/508||;p3_1000G_AA=G|||;p3_1000G_AC=3450;p3_1000G_AF=0.688898;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=19760;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.669;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169391154;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2829,1577;ESP6500_AA_AGE=481.0+/-359.0;ESP6500_AA_GTC=900,1029,274;ESP6500_CDS_SIZES=NM_021179.1:1527;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=5549,3047;ESP6500_EA_AGE=465.3+/-366.5;ESP6500_EA_GTC=1770,2009,519;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021179.1:missense;ESP6500_GL=C1orf114;ESP6500_GRCh38_POSITION=1:169421916;ESP6500_GS=155;ESP6500_GTC=2670,3038,793;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021179.1:c.515T>C;ESP6500_HGVS_PROTEIN_VAR=NM_021179.1:p.(F172S);ESP6500_MAF=35.4467,35.7921,35.5638;ESP6500_PH=benign:0.001;ESP6500_TAC=8378,4624	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1463,126,0
chr1	169424988	rs10919168	A	G	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.59;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10919168;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CCDC181|CCDC181|transcript|NM_001300969.1|protein_coding|1/5|c.-23-38T>C||||||,G|intron_variant|MODIFIER|CCDC181|CCDC181|transcript|NM_021179.2|protein_coding|1/5|c.-23-38T>C||||||,G|intron_variant|MODIFIER|CCDC181|CCDC181|transcript|NM_001300968.1|protein_coding|2/6|c.-23-38T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3798;p3_1000G_AF=0.758387;p3_1000G_AFR_AF=0.7269;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=10783;p3_1000G_EAS_AF=0.9355;p3_1000G_EUR_AF=0.7346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169394226;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:463,36,0
chr1	169465789	rs2678166;293520	C	T	659.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2678166;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|SLC19A2|SLC19A2|transcript|NM_006996.2|protein_coding|6/6|c.*60G>A|||||60|,T|3_prime_UTR_variant|MODIFIER|SLC19A2|SLC19A2|transcript|NM_001319667.1|protein_coding|5/5|c.*60G>A|||||60|;p3_1000G_AA=T|||;p3_1000G_AC=4996;p3_1000G_AF=0.997604;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18487;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.993;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169435027;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;CLINVAR_ALLELEID=278187;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004860,MedGen:C0271972|MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED_CT:237617006;CLINVAR_CLNDN=Thiamine-responsive_megaloblastic_anemia|Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness;CLINVAR_CLNHGVS=NC_000001.11:g.169465789C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2784;CLINVAR_GENEINFO=SLC19A2:10560;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2678166	GT:AD:DP:GQ:PL	1/1:0,22:22:66:688,66,0
chr1	169468787	rs3737682;130318	A	G	458.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.935;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.606;SOR=0.951;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737682;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|SLC19A2|SLC19A2|transcript|NM_006996.2|protein_coding|4/6|c.1080T>C|p.Thr360Thr|1284/3636|1080/1494|360/497||,G|synonymous_variant|LOW|SLC19A2|SLC19A2|transcript|NM_001319667.1|protein_coding|3/5|c.477T>C|p.Thr159Thr|681/3033|477/891|159/296||;p3_1000G_AA=A|||;p3_1000G_AC=118;p3_1000G_AF=0.0235623;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=18347;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169438025;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_006996.2:1494;ESP6500_CG=-11.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=124;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006996.2:coding-synonymous;ESP6500_GL=SLC19A2;ESP6500_GRCh38_POSITION=1:169468787;ESP6500_GTC=0,1,6502;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006996.2:c.1080T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006996.2:p.(T360);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_TAC=1,13005;CLINVAR_AF_ESP=0.0001;CLINVAR_AF_EXAC=0.00789;CLINVAR_AF_TGP=0.0236;CLINVAR_ALLELEID=135765;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004860,MedGen:C0271972|MedGen:C0342287,OMIM:249270,Orphanet:ORPHA49827,SNOMED_CT:237617006|MedGen:CN169374;CLINVAR_CLNDN=Thiamine-responsive_megaloblastic_anemia|Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169468787A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:111905;CLINVAR_GENEINFO=SLC19A2:10560;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3737682	GT:AD:DP:GQ:PL	0/1:25,20:45:99:487,0,619
chr1	169520708	rs9332658	A	G	208.94	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.489;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.12;ReadPosRankSum=-0.157;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9332658;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|21/24|c.6049-44T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=940;p3_1000G_AF=0.1877;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=17679;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169489946;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=154,4244;ESP6500_AA_GTC=3,148,2048;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=15;ESP6500_EA_AC=74,8510;ESP6500_EA_GTC=1,72,4219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:intron;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169520708;ESP6500_GTC=4,220,6267;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.6049-44T>C;ESP6500_MAF=0.8621,3.5016,1.7563;ESP6500_TAC=228,12754	GT:AD:DP:GQ:PL	0/1:1,7:8:14:237,0,14
chr1	169524958	rs2301515	C	T	347.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2301515;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|18/24|c.5717-50G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2708;p3_1000G_AF=0.540735;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=17064;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169494196;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1539,2845;ESP6500_AA_GTC=286,967,939;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=2728,5852;ESP6500_EA_GTC=436,1856,1998;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:intron;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169524958;ESP6500_GTC=722,2823,2937;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.5717-50G>A;ESP6500_MAF=31.7949,35.1049,32.9142;ESP6500_TAC=4267,8697	GT:AD:DP:GQ:PL	1/1:0,11:11:33:376,33,0
chr1	169529596	rs6009;255211	T	C	549.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.36;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6009;dbSNPBuildID=52;ANN=C|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|16/24|c.5419+12A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4689;p3_1000G_AF=0.936302;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=19580;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169498834;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3958,448;ESP6500_AA_AGE=209.2+/-230.0;ESP6500_AA_GTC=1773,412,18;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=1.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=69;ESP6500_EA_AC=7960,640;ESP6500_EA_AGE=163.8+/-216.2;ESP6500_EA_GTC=3682,596,22;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:intron;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169529596;ESP6500_GTC=5455,1008,40;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.5419+12A>G;ESP6500_MAF=7.4419,10.168,8.3654;ESP6500_TAC=11918,1088;CLINVAR_ALLELEID=249500;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169529596T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2801;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6009	GT:AD:DP:GQ:PL	1/1:0,16:16:48:578,48,0
chr1	169529737	rs6030;255210	T	C	821.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.756;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-2.218;SOR=1.236;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6030;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|F5|F5|transcript|NM_000130.4|protein_coding|16/25|c.5290A>G|p.Met1764Val|5435/9179|5290/6675|1764/2224||;p3_1000G_AA=C|||;p3_1000G_AC=1546;p3_1000G_AF=0.308706;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=19732;p3_1000G_EAS_AF=0.2837;p3_1000G_EUR_AF=0.3111;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169498975;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=878,3528;ESP6500_AA_AGE=744.5+/-411.6;ESP6500_AA_GTC=87,704,1412;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-2.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=150;ESP6500_EA_AC=2886,5714;ESP6500_EA_AGE=672.0+/-402.9;ESP6500_EA_GTC=453,1980,1867;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000130.4:missense;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169529737;ESP6500_GS=21;ESP6500_GTC=540,2684,3279;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.5290A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(M1764V);ESP6500_MAF=33.5581,19.9274,28.9405;ESP6500_PH=benign:0.0;ESP6500_TAC=3764,9242;CLINVAR_AF_ESP=0.2894;CLINVAR_AF_EXAC=0.33506;CLINVAR_AF_TGP=0.3087;CLINVAR_ALLELEID=249501;CLINVAR_CLNDISDB=MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169529737T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3069|UniProtKB_(protein):P12259#VAR_013897;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6030	GT:AD:DP:GQ:PL	0/1:23,33:56:99:850,0,463
chr1	169530713	rs9332620	C	T	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.309;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.68;ReadPosRankSum=0.18;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9332620;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|15/24|c.5208+73G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1310;p3_1000G_AF=0.261581;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=20661;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169499951;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:59:173,0,59
chr1	169530972	rs6010;293591	T	C	522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.47;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.962;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6010;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|F5|F5|transcript|NM_000130.4|protein_coding|15/25|c.5022A>G|p.Gly1674Gly|5167/9179|5022/6675|1674/2224||;p3_1000G_AA=T|||;p3_1000G_AC=488;p3_1000G_AF=0.0974441;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=19668;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.0398;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169500210;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=171,4235;ESP6500_AA_AGE=111.2+/-149.4;ESP6500_AA_GTC=4,163,2036;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-6.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=119;ESP6500_EA_AC=347,8253;ESP6500_EA_AGE=118.3+/-177.8;ESP6500_EA_GTC=8,331,3961;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:coding-synonymous;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169530972;ESP6500_GTC=12,494,5997;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.5022A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(G1674);ESP6500_MAF=4.0349,3.8811,3.9828;ESP6500_TAC=518,12488;CLINVAR_AF_ESP=0.0398;CLINVAR_AF_EXAC=0.07406;CLINVAR_AF_TGP=0.0974;CLINVAR_ALLELEID=278298;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance;CLINVAR_CLNHGVS=NC_000001.11:g.169530972T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:78142;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6010	GT:AD:DP:GQ:PL	0/1:32,21:53:99:551,0,767
chr1	169531110	rs9332619	G	A	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.577;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.437;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9332619;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|14/24|c.4972-88C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1313;p3_1000G_AF=0.262181;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=20676;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169500348;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:183,0,255
chr1	169540880	rs9332608;293599	G	A	1695.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.142;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=0.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=0.403;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9332608;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.4210C>T|p.Pro1404Ser|4355/9179|4210/6675|1404/2224||;p3_1000G_AA=G|||;p3_1000G_AC=471;p3_1000G_AF=0.0940495;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=21353;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169510118;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=135,4271;ESP6500_AA_AGE=97.1+/-135.8;ESP6500_AA_GTC=2,131,2070;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=1.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=106;ESP6500_EA_AC=346,8254;ESP6500_EA_AGE=118.3+/-177.8;ESP6500_EA_GTC=9,328,3963;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000130.4:missense;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169540880;ESP6500_GS=74;ESP6500_GTC=11,459,6033;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.4210C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(P1404S);ESP6500_MAF=4.0233,3.064,3.6983;ESP6500_PH=benign:0.051;ESP6500_TAC=481,12525;CLINVAR_AF_ESP=0.0370;CLINVAR_AF_EXAC=0.07289;CLINVAR_AF_TGP=0.0941;CLINVAR_ALLELEID=278328;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance;CLINVAR_CLNHGVS=NC_000001.11:g.169540880G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:78155|UniProtKB_(protein):P12259#VAR_021301;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9332608	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,60:91:99:0|1:169540880_G_A:1724,0,1106
chr1	169540901	rs13306334;293600	G	A	944.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.775;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=2.704;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-2.436;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306334;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.4189C>T|p.Leu1397Phe|4334/9179|4189/6675|1397/2224||;p3_1000G_AA=N|||;p3_1000G_AC=863;p3_1000G_AF=0.172324;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=21559;p3_1000G_EAS_AF=0.6022;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169510139;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=24,4382;ESP6500_AA_GTC=0,24,2179;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=123;ESP6500_EA_AC=70,8530;ESP6500_EA_GTC=1,68,4231;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000130.4:missense;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169540901;ESP6500_GS=22;ESP6500_GTC=1,92,6410;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.4189C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(L1397F);ESP6500_MAF=0.814,0.5447,0.7227;ESP6500_PH=benign:0.012;ESP6500_TAC=94,12912;CLINVAR_AF_ESP=0.0072;CLINVAR_AF_EXAC=0.08983;CLINVAR_AF_TGP=0.1723;CLINVAR_ALLELEID=277250;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance;CLINVAR_CLNHGVS=NC_000001.11:g.169540901G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:78570|UniProtKB_(protein):P12259#VAR_047741;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13306334	GT:AD:DP:GQ:PGT:PID:PL	0/1:63,38:101:99:1|0:169540880_G_A:973,0,2428
chr1	169541142	rs9287090;255206	G	A	1167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.372;ClippingRankSum=0;DP=142;ExcessHet=3.0103;FS=0.632;MLEAC=1;MLEAF=0.5;MQ=59.58;MQRankSum=-0.701;QD=8.46;ReadPosRankSum=-0.781;SOR=0.626;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9287090;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.3948C>T|p.Leu1316Leu|4093/9179|3948/6675|1316/2224||;p3_1000G_AA=G|||;p3_1000G_AC=1320;p3_1000G_AF=0.263578;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=22137;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169510380;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=821,3585;ESP6500_AA_AGE=323.2+/-298.0;ESP6500_AA_GTC=72,677,1454;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=265;ESP6500_EA_AC=2356,6244;ESP6500_EA_AGE=393.5+/-344.4;ESP6500_EA_GTC=300,1756,2244;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:coding-synonymous;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169541142;ESP6500_GTC=372,2433,3698;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.3948C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(L1316);ESP6500_MAF=27.3953,18.6337,24.4272;ESP6500_TAC=3177,9829;CLINVAR_AF_ESP=0.2443;CLINVAR_AF_EXAC=0.27297;CLINVAR_AF_TGP=0.2636;CLINVAR_ALLELEID=249504;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169541142G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3087;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9287090	GT:AD:DP:GQ:PL	0/1:76,62:138:99:1196,0,2076
chr1	169541286	rs1800594;255204	A	G	1779.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.68;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=3.24;MLEAC=1;MLEAF=0.5;MQ=59.06;MQRankSum=0.492;QD=14.13;ReadPosRankSum=-2.02;SOR=1.037;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1800594;dbSNPBuildID=123;ANN=G|synonymous_variant|LOW|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.3804T>C|p.Ser1268Ser|3949/9179|3804/6675|1268/2224||;p3_1000G_AA=A|||;p3_1000G_AC=1550;p3_1000G_AF=0.309505;p3_1000G_AFR_AF=0.1778;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=21319;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.3151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169510524;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=836,3570;ESP6500_AA_AGE=319.9+/-296.3;ESP6500_AA_GTC=88,660,1455;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=218;ESP6500_EA_AC=2833,5765;ESP6500_EA_AGE=440.1+/-359.4;ESP6500_EA_GTC=458,1917,1924;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:coding-synonymous;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169541286;ESP6500_GTC=546,2577,3379;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.3804T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(S1268);ESP6500_MAF=32.9495,18.9741,28.2144;ESP6500_TAC=3669,9335;CLINVAR_AF_ESP=0.2821;CLINVAR_AF_EXAC=0.31083;CLINVAR_AF_TGP=0.3095;CLINVAR_ALLELEID=249506;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169541286A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3109;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1800594	GT:AD:DP:GQ:PL	0/1:61,65:126:99:1808,0,1597
chr1	169542317	rs6032;255202	T	C	1755.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.42;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=0.687;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.619;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6032;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.2773A>G|p.Lys925Glu|2918/9179|2773/6675|925/2224||;p3_1000G_AA=C|||;p3_1000G_AC=1316;p3_1000G_AF=0.26278;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=20989;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169511555;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=812,3594;ESP6500_AA_AGE=748.8+/-412.0;ESP6500_AA_GTC=67,678,1458;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=109;ESP6500_EA_AC=2355,6245;ESP6500_EA_AGE=701.7+/-405.2;ESP6500_EA_GTC=300,1755,2245;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000130.4:missense;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169542317;ESP6500_GS=56;ESP6500_GTC=367,2433,3703;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.2773A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(K925E);ESP6500_MAF=27.3837,18.4294,24.3503;ESP6500_PH=benign:0.0;ESP6500_TAC=3167,9839;CLINVAR_AF_ESP=0.2435;CLINVAR_AF_EXAC=0.27366;CLINVAR_AF_TGP=0.2628;CLINVAR_ALLELEID=249507;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169542317T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3117|UniProtKB_(protein):P12259#VAR_013890;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6032	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1784,0,1425
chr1	169542496	rs4525;255201	T	C	1689.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.776;SOR=0.681;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4525;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.2594A>G|p.His865Arg|2739/9179|2594/6675|865/2224||;p3_1000G_AA=T|||;p3_1000G_AC=1316;p3_1000G_AF=0.26278;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=21442;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169511734;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=814,3592;ESP6500_AA_AGE=321.5+/-297.2;ESP6500_AA_GTC=68,678,1457;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=184;ESP6500_EA_AC=2356,6244;ESP6500_EA_AGE=393.9+/-344.5;ESP6500_EA_GTC=300,1756,2244;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000130.4:missense;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169542496;ESP6500_GS=29;ESP6500_GTC=368,2434,3701;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.2594A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(H865R);ESP6500_MAF=27.3953,18.4748,24.3734;ESP6500_PH=benign:0.0;ESP6500_TAC=3170,9836;CLINVAR_AF_ESP=0.2437;CLINVAR_AF_EXAC=0.27377;CLINVAR_AF_TGP=0.2628;CLINVAR_ALLELEID=249508;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169542496T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3138|UniProtKB_(protein):P12259#VAR_001215;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4525	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1718,0,1287
chr1	169542517	rs4524;255200	T	C	1793.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=113;ExcessHet=3.0103;FS=1.541;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=0.252;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4524;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.2573A>G|p.Lys858Arg|2718/9179|2573/6675|858/2224||;p3_1000G_AA=T|||;p3_1000G_AC=1336;p3_1000G_AF=0.266773;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=21468;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169511755;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=813,3593;ESP6500_AA_AGE=321.3+/-297.0;ESP6500_AA_GTC=68,677,1458;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=179;ESP6500_EA_AC=2355,6245;ESP6500_EA_AGE=393.6+/-344.4;ESP6500_EA_GTC=300,1755,2245;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000130.4:missense;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169542517;ESP6500_GS=26;ESP6500_GTC=368,2432,3703;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.2573A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(K858R);ESP6500_MAF=27.3837,18.4521,24.358;ESP6500_PH=benign:0.0;ESP6500_TAC=3168,9838;CLINVAR_AF_ESP=0.2436;CLINVAR_AF_EXAC=0.27684;CLINVAR_AF_TGP=0.2668;CLINVAR_ALLELEID=249509;CLINVAR_CLNDISDB=MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169542517T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3158|UniProtKB_(protein):P12259#VAR_001214;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4524	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1822,0,1276
chr1	169542789	rs6021;255196	T	C	710.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.41;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.418;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6021;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.2301A>G|p.Ser767Ser|2446/9179|2301/6675|767/2224||;p3_1000G_AA=C|||;p3_1000G_AC=1316;p3_1000G_AF=0.26278;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=21933;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169512027;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=813,3593;ESP6500_AA_AGE=750.9+/-412.2;ESP6500_AA_GTC=68,677,1458;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=161;ESP6500_EA_AC=2355,6245;ESP6500_EA_AGE=702.6+/-405.3;ESP6500_EA_GTC=299,1757,2244;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:coding-synonymous;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169542789;ESP6500_GTC=367,2434,3702;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.2301A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(S767);ESP6500_MAF=27.3837,18.4521,24.358;ESP6500_TAC=3168,9838;CLINVAR_AF_ESP=0.2436;CLINVAR_AF_EXAC=0.27365;CLINVAR_AF_TGP=0.2628;CLINVAR_ALLELEID=249512;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169542789T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3172;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6021	GT:AD:DP:GQ:PL	0/1:43,27:70:99:739,0,1161
chr1	169542855	rs6017;255194	A	G	998.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=1.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.762;SOR=0.94;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6017;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.2235T>C|p.Asn745Asn|2380/9179|2235/6675|745/2224||;p3_1000G_AA=A|||;p3_1000G_AC=1316;p3_1000G_AF=0.26278;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=21864;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169512093;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=812,3594;ESP6500_AA_AGE=320.7+/-296.8;ESP6500_AA_GTC=68,676,1459;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=206;ESP6500_EA_AC=2355,6245;ESP6500_EA_AGE=393.9+/-344.5;ESP6500_EA_GTC=299,1757,2244;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:coding-synonymous;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169542855;ESP6500_GTC=367,2433,3703;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.2235T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(N745);ESP6500_MAF=27.3837,18.4294,24.3503;ESP6500_TAC=3167,9839;CLINVAR_AF_ESP=0.2435;CLINVAR_AF_EXAC=0.27368;CLINVAR_AF_TGP=0.2628;CLINVAR_ALLELEID=249514;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169542855A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3200;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6017	GT:AD:DP:GQ:PL	0/1:47,36:83:99:1027,0,1252
chr1	169542882	rs6016;255193	G	A	834.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.608;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0.865;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.656;SOR=0.893;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6016;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|F5|F5|transcript|NM_000130.4|protein_coding|13/25|c.2208C>T|p.Ile736Ile|2353/9179|2208/6675|736/2224||;p3_1000G_AA=A|||;p3_1000G_AC=1316;p3_1000G_AF=0.26278;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=20914;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169512120;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=813,3593;ESP6500_AA_AGE=750.9+/-412.2;ESP6500_AA_GTC=68,677,1458;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-2.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=216;ESP6500_EA_AC=2355,6245;ESP6500_EA_AGE=702.8+/-405.3;ESP6500_EA_GTC=299,1757,2244;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:coding-synonymous;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169542882;ESP6500_GTC=367,2434,3702;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.2208C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(I736);ESP6500_MAF=27.3837,18.4521,24.358;ESP6500_TAC=3168,9838;CLINVAR_AF_ESP=0.2436;CLINVAR_AF_EXAC=0.27361;CLINVAR_AF_TGP=0.2628;CLINVAR_ALLELEID=249515;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169542882G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3213;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6016	GT:AD:DP:GQ:PL	0/1:51,33:84:99:863,0,1508
chr1	169546636	rs13306345	T	A	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.17;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=1.5;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306345;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|10/24|c.1612-44A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=1289;p3_1000G_AF=0.257388;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=20410;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169515874;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=906,3500;ESP6500_AA_AGE=345.9+/-308.8;ESP6500_AA_GTC=88,730,1385;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=0.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=49;ESP6500_EA_AC=2013,6587;ESP6500_EA_AGE=349.6+/-327.5;ESP6500_EA_GTC=234,1545,2521;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:intron;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169546636;ESP6500_GTC=322,2275,3906;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.1612-44A>T;ESP6500_MAF=23.407,20.5629,22.4435;ESP6500_TAC=2919,10087	GT:AD:DP:GQ:PL	0/1:4,8:12:59:239,0,59
chr1	169546678	rs13306344	G	A	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.18;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306344;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|10/24|c.1612-86C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1201;p3_1000G_AF=0.239816;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=19184;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169515916;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:139,0,148
chr1	169549874	rs6020;293628	C	T	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.687;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.375;SOR=0.905;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6020;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|F5|F5|transcript|NM_000130.4|protein_coding|10/25|c.1538G>A|p.Arg513Lys|1683/9179|1538/6675|513/2224||;p3_1000G_AA=C|||;p3_1000G_AC=1320;p3_1000G_AF=0.263578;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=15771;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169519112;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1183,3223;ESP6500_AA_AGE=414.6+/-336.9;ESP6500_AA_GTC=189,805,1209;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=187;ESP6500_EA_AC=93,8507;ESP6500_EA_AGE=52.3+/-112.8;ESP6500_EA_GTC=2,89,4209;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000130.4:missense;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169549874;ESP6500_GS=26;ESP6500_GTC=191,894,5418;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.1538G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(R513K);ESP6500_MAF=1.0814,26.8498,9.8109;ESP6500_PH=possibly-damaging:0.911;ESP6500_TAC=1276,11730;CLINVAR_AF_ESP=0.0981;CLINVAR_AF_EXAC=0.11195;CLINVAR_AF_TGP=0.2636;CLINVAR_ALLELEID=278360;CLINVAR_CLNDISDB=MedGen:C1861171,OMIM:188055;CLINVAR_CLNDN=Thrombophilia_due_to_activated_protein_C_resistance;CLINVAR_CLNHGVS=NC_000001.11:g.169549874C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:78589|UniProtKB_(protein):P12259#VAR_013622;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6020	GT:AD:DP:GQ:PL	0/1:26,22:48:99:542,0,675
chr1	169550527	rs13306331	A	G	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.571;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.949;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306331;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|9/24|c.1396+113T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1236;p3_1000G_AF=0.246805;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=13814;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169519765;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:213,0,170
chr1	169550860	rs10800456	A	G	262.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10800456;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|8/24|c.1297-121T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2944;p3_1000G_AF=0.587859;p3_1000G_AFR_AF=0.5772;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=22666;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.339;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169520098;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:291,24,0
chr1	169559342	rs6012	C	T	783.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6012;dbSNPBuildID=52;ANN=T|intron_variant|MODIFIER|F5|F5|transcript|NM_000130.4|protein_coding|4/24|c.587-46G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2093;p3_1000G_AF=0.417931;p3_1000G_AFR_AF=0.6551;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=21566;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169528580;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2531,1875;ESP6500_AA_AGE=631.5+/-395.7;ESP6500_AA_GTC=736,1059,408;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=52;ESP6500_EA_AC=1516,7084;ESP6500_EA_AGE=284.8+/-296.9;ESP6500_EA_GTC=132,1252,2916;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:intron;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169559342;ESP6500_GTC=868,2311,3324;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.587-46G>A;ESP6500_MAF=17.6279,42.5556,31.1164;ESP6500_TAC=4047,8959	GT:AD:DP:GQ:PL	1/1:0,24:24:72:812,72,0
chr1	169560588	rs6022;255212	C	A	1404.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6022;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|F5|F5|transcript|NM_000130.4|protein_coding|4/25|c.552G>T|p.Ser184Ser|697/9179|552/6675|184/2224||;p3_1000G_AA=A|||;p3_1000G_AC=2092;p3_1000G_AF=0.417732;p3_1000G_AFR_AF=0.6543;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=17222;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169529826;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2531,1875;ESP6500_AA_AGE=539.3+/-375.2;ESP6500_AA_GTC=737,1057,409;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=123;ESP6500_EA_AC=1517,7083;ESP6500_EA_AGE=748.0+/-407.3;ESP6500_EA_GTC=132,1253,2915;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:coding-synonymous;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169560588;ESP6500_GTC=869,2310,3324;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.552G>T;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(S184);ESP6500_MAF=17.6395,42.5556,31.1241;ESP6500_TAC=4048,8958;CLINVAR_AF_ESP=0.3112;CLINVAR_AF_EXAC=0.26137;CLINVAR_AF_TGP=0.4177;CLINVAR_ALLELEID=249523;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169560588C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:48327;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6022	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1433,150,0
chr1	169560735	rs6029;255207	C	T	1026.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6029;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|F5|F5|transcript|NM_000130.4|protein_coding|4/25|c.405G>A|p.Ala135Ala|550/9179|405/6675|135/2224||;p3_1000G_AA=C|||;p3_1000G_AC=1997;p3_1000G_AF=0.398762;p3_1000G_AFR_AF=0.584;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=16887;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169529973;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2249,2157;ESP6500_AA_AGE=596.6+/-388.7;ESP6500_AA_GTC=572,1105,526;ESP6500_CDS_SIZES=NM_000130.4:6675;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=119;ESP6500_EA_AC=1517,7083;ESP6500_EA_AGE=285.9+/-297.4;ESP6500_EA_GTC=132,1253,2915;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000130.4:coding-synonymous;ESP6500_GL=F5;ESP6500_GRCh38_POSITION=1:169560735;ESP6500_GTC=704,2358,3441;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000130.4:c.405G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000130.4:p.(A135);ESP6500_MAF=17.6395,48.956,28.9559;ESP6500_TAC=3766,9240;CLINVAR_AF_ESP=0.2896;CLINVAR_AF_EXAC=0.25596;CLINVAR_AF_TGP=0.3988;CLINVAR_ALLELEID=249524;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002639,MedGen:C0856761,OMIM:600880,Orphanet:ORPHA131,SNOMED_CT:82385007|MedGen:C0015499,OMIM:227400,Orphanet:ORPHA326,SNOMED_CT:4320005|MedGen:C0398623,OMIM:188050,SNOMED_CT:234467004|MedGen:C1861171,OMIM:188055|MedGen:CN169374;CLINVAR_CLNDN=Budd-Chiari_syndrome|Factor_V_deficiency|VENOUS_THROMBOSIS|Thrombophilia_due_to_activated_protein_C_resistance|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.169560735C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:48353;CLINVAR_GENEINFO=F5:2153;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6029	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1055,102,0
chr1	169593666	rs6128	C	T	953.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6128;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|SELP|SELP|transcript|NM_003005.3|protein_coding|14/17|c.2346G>A|p.Thr782Thr|2411/3171|2346/2493|782/830||;p3_1000G_AA=C|||;p3_1000G_AC=1897;p3_1000G_AF=0.378794;p3_1000G_AFR_AF=0.5325;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=17543;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.166;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169562904;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2092,2314;ESP6500_AA_AGE=574.3+/-383.7;ESP6500_AA_GTC=505,1082,616;ESP6500_CDS_SIZES=NM_003005.3:2493;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=70;ESP6500_EA_AC=1375,7225;ESP6500_EA_AGE=266.5+/-286.8;ESP6500_EA_GTC=103,1169,3028;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003005.3:coding-synonymous;ESP6500_GL=SELP;ESP6500_GRCh38_POSITION=1:169593666;ESP6500_GTC=608,2251,3644;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003005.3:c.2346G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003005.3:p.(T782);ESP6500_MAF=15.9884,47.4807,26.6569;ESP6500_TAC=3467,9539	GT:AD:DP:GQ:PL	1/1:0,32:32:96:982,96,0
chr1	169597075	rs6127	C	T	883.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6127;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|SELP|SELP|transcript|NM_003005.3|protein_coding|11/17|c.1807G>A|p.Asp603Asn|1872/3171|1807/2493|603/830||;p3_1000G_AA=T|||;p3_1000G_AC=3760;p3_1000G_AF=0.750799;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=16183;p3_1000G_EAS_AF=0.9573;p3_1000G_EUR_AF=0.5905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169566313;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5736;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3593,813;ESP6500_AA_AGE=322.1+/-297.4;ESP6500_AA_GTC=1483,627,93;ESP6500_CDS_SIZES=NM_003005.3:2493;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=72;ESP6500_EA_AC=4802,3798;ESP6500_EA_AGE=537.9+/-383.3;ESP6500_EA_GTC=1332,2138,830;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003005.3:missense;ESP6500_GL=SELP;ESP6500_GRCh38_POSITION=1:169597075;ESP6500_GS=23;ESP6500_GTC=2815,2765,923;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003005.3:c.1807G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003005.3:p.(D603N);ESP6500_MAF=44.1628,18.4521,35.4529;ESP6500_PH=benign:0.0;ESP6500_TAC=8395,4611	GT:AD:DP:GQ:PL	1/1:0,31:31:93:912,93,0
chr1	169603307	rs201543202;rs3035296;rs869082719	CTGTGTGTG	C	772.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.67;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs201543202,rs34478968,rs3035296;dbSNPBuildID=137,102,147;ANN=C|intron_variant|MODIFIER|SELP|SELP|transcript|NM_003005.3|protein_coding|9/16|c.1520-104_1520-97delCACACACA||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:169603307_CTGTGTGTG_C:810,54,0
chr1	169603317	rs201923719	G	C	781.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.99;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201923719;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|SELP|SELP|transcript|NM_003005.3|protein_coding|9/16|c.1520-106C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:169603307_CTGTGTGTG_C:810,54,0
chr1	169603319	rs199963384	G	C	781.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs199963384;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|SELP|SELP|transcript|NM_003005.3|protein_coding|9/16|c.1520-108C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:169603307_CTGTGTGTG_C:810,54,0
chr1	169611647	rs6131	C	T	546.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.572;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=2.74;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6131;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|SELP|SELP|transcript|NM_003005.3|protein_coding|7/17|c.992G>A|p.Ser331Asn|1057/3171|992/2493|331/830||;p3_1000G_AA=T|||;p3_1000G_AC=1197;p3_1000G_AF=0.239018;p3_1000G_AFR_AF=0.3389;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=20808;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.1859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169580885;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1336,3070;ESP6500_AA_AGE=694.5+/-405.8;ESP6500_AA_GTC=194,948,1061;ESP6500_CDS_SIZES=NM_003005.3:2493;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=109;ESP6500_EA_AC=1618,6982;ESP6500_EA_AGE=742.6+/-407.2;ESP6500_EA_GTC=154,1310,2836;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003005.3:missense;ESP6500_GL=SELP;ESP6500_GRCh38_POSITION=1:169611647;ESP6500_GS=46;ESP6500_GTC=348,2258,3897;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003005.3:c.992G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003005.3:p.(S331N);ESP6500_MAF=18.814,30.3223,22.7126;ESP6500_PH=benign:0.01;ESP6500_TAC=2954,10052	GT:AD:DP:GQ:PL	0/1:21,22:43:99:575,0,631
chr1	169611734	rs3917730;rs61535831;rs74457368	C	CAT	455.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.623;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=-0.953;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3917730;dbSNPBuildID=108,129;ANN=CAT|intron_variant|MODIFIER|SELP|SELP|transcript|NM_003005.3|protein_coding|6/16|c.962-58_962-57insAT||||||;p3_1000G_AC=2044;p3_1000G_AF=0.408147;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=20927;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169580972;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:12,13:25:99:493,0,478
chr1	169616982	rs757585194	GT	G	13.91	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.019;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=-0.095;SOR=0.148;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|SELP|SELP|transcript|NM_003005.3|protein_coding|3/16|c.481+45delA||||||	GT:AD:DP:GQ:PL	0/1:16,4:20:51:51,0,369
chr1	169630016	rs732314	T	C	2177.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=1.296;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs732314;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SELP|SELP|transcript|NM_003005.3|protein_coding|1/16|c.3+56A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2347;p3_1000G_AF=0.46865;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=21190;p3_1000G_EAS_AF=0.3343;p3_1000G_EUR_AF=0.5109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169599254;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=862,522;ESP6500_AA_GTC=270,322,100;ESP6500_CDS_SIZES=NM_003005.3:2493;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=211;ESP6500_EA_AC=1597,1585;ESP6500_EA_GTC=397,803,391;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003005.3:intron;ESP6500_GL=SELP;ESP6500_GRCh38_POSITION=1:169630016;ESP6500_GTC=667,1125,491;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003005.3:c.3+56A>G;ESP6500_MAF=49.8114,37.7168,46.1454;ESP6500_TAC=2459,2107	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2206,207,0
chr1	169691640	rs12938	A	G	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.173;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=2.36;SOR=0.155;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12938;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|SELL|SELL|transcript|NM_000655.4|protein_coding|9/9|c.*144T>C|||||144|,G|non_coding_transcript_exon_variant|MODIFIER|SELL|SELL|transcript|NR_029467.1|pseudogene|7/7|n.1231T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1031;p3_1000G_AF=0.205871;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=17489;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169660781;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:265,0,303
chr1	169696410	rs4987358	G	T	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.398;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.511;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4987358;dbSNPBuildID=113;ANN=T|intron_variant|MODIFIER|SELL|SELL|transcript|NM_000655.4|protein_coding|8/8|c.1139+125C>A||||||,T|intron_variant|MODIFIER|SELL|SELL|transcript|NR_029467.1|pseudogene|6/6|n.1068+125C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1037;p3_1000G_AF=0.207069;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=16312;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.2296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169665551;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:247,0,133
chr1	169696491	rs2223286	T	C	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.865;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2223286;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|SELL|SELL|transcript|NM_000655.4|protein_coding|8/8|c.1139+44A>G||||||,C|intron_variant|MODIFIER|SELL|SELL|transcript|NR_029467.1|pseudogene|6/6|n.1068+44A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1677;p3_1000G_AF=0.334864;p3_1000G_AFR_AF=0.6195;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=17666;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.2793;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169665632;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2083,1617;ESP6500_AA_GTC=611,861,378;ESP6500_CDS_SIZES=NM_000655.4:1158;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=57;ESP6500_EA_AC=2498,5650;ESP6500_EA_GTC=391,1716,1967;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000655.4:intron;ESP6500_GL=SELL;ESP6500_GRCh38_POSITION=1:169696491;ESP6500_GTC=1002,2577,2345;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000655.4:c.1139+44A>G;ESP6500_MAF=30.6578,43.7027,38.6648;ESP6500_TAC=4581,7267	GT:AD:DP:GQ:PL	0/1:10,10:20:99:250,0,257
chr1	169703219	rs4987313	G	A	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.159;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=5.618;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=1.74;SOR=2.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4987313;dbSNPBuildID=113;ANN=A|intron_variant|MODIFIER|SELL|SELL|transcript|NM_000655.4|protein_coding|6/8|c.991+36C>T||||||,A|intron_variant|MODIFIER|SELL|SELL|transcript|NR_029467.1|pseudogene|4/6|n.920+36C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=294;p3_1000G_AF=0.0587061;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=21955;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169672360;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=174,3618;ESP6500_AA_GTC=4,166,1726;ESP6500_CDS_SIZES=NM_000655.4:1158;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_113;ESP6500_DP=55;ESP6500_EA_AC=118,8134;ESP6500_EA_GTC=1,116,4009;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000655.4:intron;ESP6500_GL=SELL;ESP6500_GRCh38_POSITION=1:169703219;ESP6500_GTC=5,282,5735;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000655.4:c.991+36C>T;ESP6500_MAF=1.43,4.5886,2.4244;ESP6500_TAC=292,11752	GT:AD:DP:GQ:PL	0/1:18,7:25:99:174,0,493
chr1	169703454	rs202128116	GA	G	14.87	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.531;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=-1.275;SOR=0.283;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs202128116;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|SELL|SELL|transcript|NM_000655.4|protein_coding|5/8|c.806-15delT||||||,G|intron_variant|MODIFIER|SELL|SELL|transcript|NR_029467.1|pseudogene|3/6|n.735-15delT||||||	GT:AD:DP:GQ:PL	0/1:6,3:9:52:52,0,129
chr1	169708883	rs4987285	T	C	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=0.032;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4987285;dbSNPBuildID=113;ANN=C|sequence_feature|LOW|SELL|SELL|propeptide:curator_inference_used_in_manual_assertion|NM_000655.4|protein_coding|2/8|c.125-80A>G||||||,C|upstream_gene_variant|MODIFIER|SELL|SELL|transcript|NR_029467.1|pseudogene||n.-27A>G|||||27|,C|intron_variant|MODIFIER|SELL|SELL|transcript|NM_000655.4|protein_coding|2/8|c.125-80A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1795;p3_1000G_AF=0.358427;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=18521;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.2873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169678024;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:268,0,147
chr1	169710631	rs4987278	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.1;ReadPosRankSum=-1.068;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4987278;dbSNPBuildID=113;ANN=G|upstream_gene_variant|MODIFIER|SELL|SELL|transcript|NR_029467.1|pseudogene||n.-1775T>C|||||1775|,G|intron_variant|MODIFIER|SELL|SELL|transcript|NM_000655.4|protein_coding|1/8|c.43-114T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=292;p3_1000G_AF=0.0583067;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=15904;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.0149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169679772;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:48:229,0,48
chr1	169728303	rs1076637	C	T	129.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.763;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.473;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1076637;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SELE|SELE|transcript|NM_000450.2|protein_coding|7/13|c.1091-57G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1648;p3_1000G_AF=0.329073;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=18981;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.1849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169697444;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:158,0,142
chr1	169729684	rs1534904	T	G	795.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1534904;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SELE|SELE|transcript|NM_000450.2|protein_coding|5/13|c.716-11A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4016;p3_1000G_AF=0.801917;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=18927;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.6909;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169698825;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4109,297;ESP6500_AA_AGE=159.2+/-191.8;ESP6500_AA_GTC=1923,263,17;ESP6500_CDS_SIZES=NM_000450.2:1833;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=72;ESP6500_EA_AC=5872,2728;ESP6500_EA_AGE=433.4+/-357.4;ESP6500_EA_GTC=2015,1842,443;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000450.2:intron;ESP6500_GL=SELE;ESP6500_GRCh38_POSITION=1:169729684;ESP6500_GTC=3938,2105,460;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000450.2:c.716-11A>C;ESP6500_MAF=31.7209,6.7408,23.2585;ESP6500_TAC=9981,3025	GT:AD:DP:GQ:PL	1/1:0,24:24:72:824,72,0
chr1	169733564	rs932307	G	A	768.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.857;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-0.769;SOR=0.705;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs932307;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SELE|SELE|transcript|NM_000450.2|protein_coding|2/13|c.37+12C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1922;p3_1000G_AF=0.383786;p3_1000G_AFR_AF=0.3699;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=20918;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.2833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169702705;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1531,2875;ESP6500_AA_AGE=672.0+/-402.6;ESP6500_AA_GTC=270,991,942;ESP6500_CDS_SIZES=NM_000450.2:1833;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=147;ESP6500_EA_AC=2130,6470;ESP6500_EA_AGE=715.1+/-406.0;ESP6500_EA_GTC=244,1642,2414;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000450.2:intron;ESP6500_GL=SELE;ESP6500_GRCh38_POSITION=1:169733564;ESP6500_GTC=514,2633,3356;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000450.2:c.37+12C>T;ESP6500_MAF=24.7674,34.7481,28.1485;ESP6500_TAC=3661,9345	GT:AD:DP:GQ:PL	0/1:22,27:49:99:797,0,600
chr1	169793666	rs10489177	T	G	1068.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.299;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.086;SOR=0.678;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10489177;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|METTL18|METTL18|transcript|NM_001320199.1|protein_coding|2/2|c.30A>C|p.Glu10Asp|339/1473|30/1119|10/372||,G|missense_variant|MODERATE|METTL18|METTL18|transcript|NM_001320201.1|protein_coding|2/2|c.30A>C|p.Glu10Asp|289/1423|30/1119|10/372||,G|missense_variant|MODERATE|METTL18|METTL18|transcript|NM_033418.3|protein_coding|2/2|c.30A>C|p.Glu10Asp|394/1528|30/1119|10/372||,G|upstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding||c.-7240T>G|||||1333|,G|upstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320051.1|protein_coding||c.-7240T>G|||||1064|,G|upstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320050.1|protein_coding||c.-1437T>G|||||1333|,G|upstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding||c.-10502T>G|||||1333|,G|upstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding||c.-7240T>G|||||1743|;p3_1000G_AA=T|||;p3_1000G_AC=1093;p3_1000G_AF=0.218251;p3_1000G_AFR_AF=0.2693;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=17838;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.164;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169762807;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1042,3364;ESP6500_AA_AGE=382.3+/-324.4;ESP6500_AA_GTC=138,766,1299;ESP6500_CDS_SIZES=NM_033418.2:1119;ESP6500_CG=3.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=60;ESP6500_EA_AC=1353,7247;ESP6500_EA_AGE=262.7+/-284.6;ESP6500_EA_GTC=112,1129,3059;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033418.2:missense;ESP6500_GL=METTL18;ESP6500_GRCh38_POSITION=1:169793666;ESP6500_GS=45;ESP6500_GTC=250,1895,4358;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_033418.2:c.30A>C;ESP6500_HGVS_PROTEIN_VAR=NM_033418.2:p.(E10D);ESP6500_MAF=15.7326,23.6496,18.4146;ESP6500_PH=benign:0.006;ESP6500_TAC=2395,10611	GT:AD:DP:GQ:PL	0/1:26,45:71:99:1097,0,541
chr1	169798892	rs6680938	T	C	1391.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.007;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6680938;dbSNPBuildID=116;ANN=C|5_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding|3/25|c.-90T>C|||||2014|,C|5_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320051.1|protein_coding|2/6|c.-90T>C|||||2014|,C|5_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding|2/24|c.-90T>C|||||2014|,C|upstream_gene_variant|MODIFIER|METTL18|METTL18|transcript|NM_001320199.1|protein_coding||c.-5197A>G|||||3916|,C|upstream_gene_variant|MODIFIER|METTL18|METTL18|transcript|NM_001320201.1|protein_coding||c.-5197A>G|||||4203|,C|upstream_gene_variant|MODIFIER|METTL18|METTL18|transcript|NM_033418.3|protein_coding||c.-5197A>G|||||3916|,C|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320050.1|protein_coding|1/5|c.112-27T>C||||||,C|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding|1/22|c.-342-27T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3406;p3_1000G_AF=0.680112;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=16624;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169768033;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1420,147,0
chr1	169798939	rs6668114	C	A	1313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6668114;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|C1orf112|C1orf112|transcript|NM_001320050.1|protein_coding|2/6|c.132C>A|p.Asp44Glu|236/864|132/543|44/180||,A|5_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding|3/25|c.-43C>A|||||1967|,A|5_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320051.1|protein_coding|2/6|c.-43C>A|||||1967|,A|5_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding|2/23|c.-322C>A|||||5229|,A|5_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding|2/24|c.-43C>A|||||1967|,A|upstream_gene_variant|MODIFIER|METTL18|METTL18|transcript|NM_001320199.1|protein_coding||c.-5244G>T|||||3963|,A|upstream_gene_variant|MODIFIER|METTL18|METTL18|transcript|NM_001320201.1|protein_coding||c.-5244G>T|||||4250|,A|upstream_gene_variant|MODIFIER|METTL18|METTL18|transcript|NM_033418.3|protein_coding||c.-5244G>T|||||3963|;p3_1000G_AA=C|||;p3_1000G_AC=3406;p3_1000G_AF=0.680112;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=17436;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169768080;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1342,132,0
chr1	169807852	rs74953085	A	G	690.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.68;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=5.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.03;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74953085;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding|9/25|c.625A>G|p.Ser209Gly|1022/3060|625/2562|209/853||,G|missense_variant|MODERATE|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding|7/23|c.220A>G|p.Ser74Gly|777/2815|220/2157|74/718||,G|missense_variant|MODERATE|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding|8/24|c.625A>G|p.Ser209Gly|1325/3363|625/2562|209/853||,G|downstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320051.1|protein_coding||c.*3604A>G|||||3467|,G|downstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320050.1|protein_coding||c.*3684A>G|||||3467|;p3_1000G_AA=A|||;p3_1000G_AC=20;p3_1000G_AF=0.00399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18691;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169776993;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,29:59:99:719,0,742
chr1	169850143	rs2272916	G	A	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.54;ReadPosRankSum=0.431;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272916;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding||c.*3570C>T|||||2933|,A|downstream_gene_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding||c.*3570C>T|||||2933|,A|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding|22/24|c.2164-122G>A||||||,A|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding|20/22|c.1759-122G>A||||||,A|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding|21/23|c.2164-122G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1075;p3_1000G_AF=0.214657;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=20413;p3_1000G_EAS_AF=0.1607;p3_1000G_EUR_AF=0.161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169819284;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:64:186,0,64
chr1	169850464	rs6664099	A	G	383.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6664099;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding||c.*3249T>C|||||2612|,G|downstream_gene_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding||c.*3249T>C|||||2612|,G|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding|23/24|c.2244+119A>G||||||,G|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding|21/22|c.1839+119A>G||||||,G|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding|22/23|c.2244+119A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3399;p3_1000G_AF=0.678714;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=18311;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.5875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169819605;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:412,33,0
chr1	169851994	rs16862714	C	T	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.357;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=0.921;SOR=0.207;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16862714;dbSNPBuildID=123;ANN=T|downstream_gene_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding||c.*1719G>A|||||1082|,T|downstream_gene_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding||c.*1719G>A|||||1082|,T|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding|24/24|c.2364+58C>T||||||,T|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding|22/22|c.1959+58C>T||||||,T|intron_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding|23/23|c.2364+58C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=354;p3_1000G_AF=0.0706869;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=20140;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169821135;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,9:14:99:288,0,134
chr1	169852999	rs112674836;rs71840872	A	AGGCAGAACT	1437.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.276;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=3.661;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=-1.543;SOR=0.319;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112674836;dbSNPBuildID=132,138;ANN=AGGCAGAACT|3_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding|25/25|c.*15_*23dupCAGAACTGG|||||24|INFO_REALIGN_3_PRIME,AGGCAGAACT|3_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding|23/23|c.*15_*23dupCAGAACTGG|||||24|INFO_REALIGN_3_PRIME,AGGCAGAACT|3_prime_UTR_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding|24/24|c.*15_*23dupCAGAACTGG|||||24|INFO_REALIGN_3_PRIME,AGGCAGAACT|downstream_gene_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding||c.*705_*713dupAGTTCTGCC|||||76|,AGGCAGAACT|downstream_gene_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding||c.*705_*713dupAGTTCTGCC|||||76|;p3_1000G_AC=384;p3_1000G_AF=0.0766773;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=18230;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169822140;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=INDEL;ESP6500_AA_AC=259,4007;ESP6500_AA_GTC=11,237,1885;ESP6500_CDS_SIZES=NM_018186.2:2562;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=64;ESP6500_EA_AC=14,8240;ESP6500_EA_GTC=0,14,4113;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018186.2:utr-3;ESP6500_GL=C1orf112;ESP6500_GRCh38_POSITION=1:169852999;ESP6500_GTC=11,251,5998;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018186.2:c.*12_*13insGGCAGAACT;ESP6500_MAF=0.1696,6.0713,2.1805;ESP6500_TAC=273,12247	GT:AD:DP:GQ:PL	0/1:26,37:63:99:1475,0,1361
chr1	169854155	rs112604424;rs372680695;rs71125207	G	GCTTGA	1015.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=4.804;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs372680695,rs112604424;dbSNPBuildID=132,138,130;ANN=GCTTGA|downstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding||c.*1168_*1169insCTTGA|||||1068|,GCTTGA|downstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding||c.*1168_*1169insCTTGA|||||1068|,GCTTGA|downstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding||c.*1168_*1169insCTTGA|||||1068|,GCTTGA|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding|13/13|c.2169+110_2169+114dupTCAAG||||||,GCTTGA|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding|12/12|c.2007+110_2007+114dupTCAAG||||||;p3_1000G_AC=2668;p3_1000G_AF=0.532748;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=19220;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.327;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169823296;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,22:22:72:1053,72,0
chr1	169854577	rs4656197	T	C	2490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=0.719;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656197;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding|13/14|c.1862A>G|p.Gln621Arg|2084/3088|1862/2229|621/742||,C|missense_variant|MODERATE|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding|12/13|c.1700A>G|p.Gln567Arg|1922/2926|1700/2067|567/688||,C|downstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320047.1|protein_coding||c.*1590T>C|||||1489|,C|downstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_001320048.1|protein_coding||c.*1590T>C|||||1489|,C|downstream_gene_variant|MODIFIER|C1orf112|C1orf112|transcript|NM_018186.3|protein_coding||c.*1590T>C|||||1489|;p3_1000G_AA=T|||;p3_1000G_AC=3404;p3_1000G_AF=0.679712;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=18874;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.5875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169823718;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3132,1274;ESP6500_AA_AGE=700.4+/-406.6;ESP6500_AA_GTC=1113,906,184;ESP6500_CDS_SIZES=NM_181093.3:2229,NM_020423.6:2067;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=103;ESP6500_EA_AC=5018,3582;ESP6500_EA_AGE=628.1+/-398.1;ESP6500_EA_GTC=1468,2082,750;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181093.3:missense,NM_020423.6:missense;ESP6500_GL=SCYL3;ESP6500_GRCh38_POSITION=1:169854577;ESP6500_GS=43,43;ESP6500_GTC=2581,2988,934;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_181093.3:c.1862A>G,NM_020423.6:c.1700A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181093.3:p.(Q621R),NM_020423.6:p.(Q567R);ESP6500_MAF=41.6512,28.9151,37.3366;ESP6500_PH=possibly-damaging:0.589,possibly-damaging:0.589;ESP6500_TAC=8150,4856	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2519,231,0
chr1	169862852	rs7525259	A	G	823.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7525259;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding|9/13|c.956-55T>C||||||,G|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding|9/12|c.956-55T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3646;p3_1000G_AF=0.728035;p3_1000G_AFR_AF=0.7405;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=21693;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.6839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169831993;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:852,75,0
chr1	169866809	rs12133843	A	C	233.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12133843;dbSNPBuildID=120;ANN=C|sequence_feature|MODERATE|SCYL3|SCYL3|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_020423.6|protein_coding|8/12|c.815+87T>G||||||,C|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding|8/13|c.815+87T>G||||||,C|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding|8/12|c.815+87T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3644;p3_1000G_AF=0.727636;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=20199;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.6839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169835950;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:262,21,0
chr1	169868875	rs2272914	G	A	703.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.537;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.588;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=-0.561;SOR=1.214;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272914;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding|7/13|c.737+53C>T||||||,A|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding|7/12|c.737+53C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=354;p3_1000G_AF=0.0706869;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=18328;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169838016;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,23:39:99:732,0,457
chr1	169870454	rs10919260	A	G	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.48;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.048;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10919260;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding|5/13|c.523-97T>C||||||,G|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding|5/12|c.523-97T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=882;p3_1000G_AF=0.176118;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=19064;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169839595;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:172,0,286
chr1	169878542	rs6683056	G	A	54.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.439;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.85;ReadPosRankSum=-0.18;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6683056;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_181093.3|protein_coding|3/13|c.351+92C>T||||||,A|intron_variant|MODIFIER|SCYL3|SCYL3|transcript|NM_020423.6|protein_coding|3/12|c.351+92C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3663;p3_1000G_AF=0.73143;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=18480;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169847683;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:83:83,0,157
chr1	169921792	rs518928	A	G	555.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs518928;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|19/19|c.2274-11T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|19/19|c.2154-11T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|20/20|c.2040-11T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|18/18|c.2142-11T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4790;p3_1000G_AF=0.95647;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=17853;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169890933;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4327,79;ESP6500_AA_AGE=65.3+/-102.7;ESP6500_AA_GTC=2124,79,0;ESP6500_CDS_SIZES=NM_014970.3:2379,NM_001204517.1:2259,NM_001204516.1:2247,NM_001204514.1:2145;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=50;ESP6500_EA_AC=7760,840;ESP6500_EA_AGE=184.3+/-232.3;ESP6500_EA_GTC=3500,760,40;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014970.3:intron,NM_001204517.1:intron,NM_001204516.1:intron,NM_001204514.1:intron;ESP6500_GL=KIFAP3;ESP6500_GRCh38_POSITION=1:169921792;ESP6500_GTC=5624,839,40;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014970.3:c.2274-11T>C,NM_001204517.1:c.2154-11T>C,NM_001204516.1:c.2142-11T>C,NM_001204514.1:c.2040-11T>C;ESP6500_MAF=9.7674,1.793,7.066;ESP6500_TAC=12087,919	GT:AD:DP:GQ:PL	1/1:0,18:18:54:584,54,0
chr1	169953900	rs35674215;rs375091647;rs386368697	G	GT	62.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.18;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-1.282;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs375091647,rs35674215;dbSNPBuildID=126,138,138;ANN=GT|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|19/19|c.2273+110dupA||||||,GT|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|19/19|c.2153+110dupA||||||,GT|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|20/20|c.2039+110dupA||||||,GT|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|18/18|c.2141+110dupA||||||;p3_1000G_AA=TTTTTT|TTTTTT|TTTTTTT|insertion;p3_1000G_AC=1248;p3_1000G_AF=0.249201;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=17357;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.3072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169923041;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,4:8:99:100,0,100
chr1	169972620	rs511443	A	T	264.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.48;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs511443;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|16/19|c.1898-22T>A||||||,T|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|16/19|c.1778-22T>A||||||,T|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|17/20|c.1664-22T>A||||||,T|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|15/18|c.1766-22T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4796;p3_1000G_AF=0.957668;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=15728;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169941761;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4311,75;ESP6500_AA_GTC=2118,75,0;ESP6500_CDS_SIZES=NM_014970.3:2379,NM_001204517.1:2259,NM_001204516.1:2247,NM_001204514.1:2145;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=39;ESP6500_EA_AC=7721,821;ESP6500_EA_GTC=3488,745,38;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014970.3:intron,NM_001204517.1:intron,NM_001204516.1:intron,NM_001204514.1:intron;ESP6500_GL=KIFAP3;ESP6500_GRCh38_POSITION=1:169972620;ESP6500_GTC=5606,820,38;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_014970.3:c.1898-22T>A,NM_001204517.1:c.1778-22T>A,NM_001204516.1:c.1766-22T>A,NM_001204514.1:c.1664-22T>A;ESP6500_MAF=9.6113,1.71,6.9307;ESP6500_TAC=12032,896	GT:AD:DP:GQ:PL	1/1:0,10:10:30:293,30,0
chr1	169978005	rs11396984	C	CA	282.9	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.022;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=-1.49;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11396984;dbSNPBuildID=138;ANN=CA|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|16/19|c.1897+79dupT||||||,CA|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|16/19|c.1777+79dupT||||||,CA|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|17/20|c.1663+79dupT||||||,CA|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|15/18|c.1765+79dupT||||||;p3_1000G_AC=3495;p3_1000G_AF=0.697883;p3_1000G_AFR_AF=0.6861;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=19610;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169947146;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,13:14:14:320,14,0
chr1	169982607	rs638486	A	G	339.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.14;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs638486;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|14/19|c.1672+95T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|14/19|c.1552+95T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|15/20|c.1438+95T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|13/18|c.1540+95T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4797;p3_1000G_AF=0.957867;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=16946;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169951748;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:368,39,0
chr1	169982856	rs33943686	C	T	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.923;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-0.437;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs33943686;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|14/20|c.1518G>A|p.Gly506Gly|1789/2997|1518/2379|506/792||,T|synonymous_variant|LOW|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|14/20|c.1398G>A|p.Gly466Gly|2898/4106|1398/2259|466/752||,T|synonymous_variant|LOW|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|15/21|c.1284G>A|p.Gly428Gly|1953/3161|1284/2145|428/714||,T|synonymous_variant|LOW|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|13/19|c.1386G>A|p.Gly462Gly|1657/2865|1386/2247|462/748||;p3_1000G_AA=C|||;p3_1000G_AC=1372;p3_1000G_AF=0.273962;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=13409;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169951997;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=484,3922;ESP6500_AA_AGE=208.8+/-229.8;ESP6500_AA_GTC=34,416,1753;ESP6500_CDS_SIZES=NM_014970.3:2379,NM_001204517.1:2259,NM_001204516.1:2247,NM_001204514.1:2145;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=51;ESP6500_EA_AC=2759,5837;ESP6500_EA_AGE=424.4+/-354.6;ESP6500_EA_GTC=484,1791,2023;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014970.3:coding-synonymous,NM_001204517.1:coding-synonymous,NM_001204516.1:coding-synonymous,NM_001204514.1:coding-synonymous;ESP6500_GL=KIFAP3;ESP6500_GRCh38_POSITION=1:169982856;ESP6500_GTC=518,2207,3776;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014970.3:c.1518G>A,NM_001204517.1:c.1398G>A,NM_001204516.1:c.1386G>A,NM_001204514.1:c.1284G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014970.3:p.(G506),NM_001204517.1:p.(G466),NM_001204516.1:p.(G462),NM_001204514.1:p.(G428);ESP6500_MAF=32.0963,10.985,24.9423;ESP6500_TAC=3243,9759	GT:AD:DP:GQ:PL	0/1:7,9:16:99:273,0,250
chr1	169983244	rs2057249	G	T	569.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2057249;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|13/19|c.1506+26C>A||||||,T|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|13/19|c.1386+26C>A||||||,T|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|14/20|c.1272+26C>A||||||,T|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|12/18|c.1374+26C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4799;p3_1000G_AF=0.958267;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=15765;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169952385;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4329,77;ESP6500_AA_AGE=65.3+/-102.7;ESP6500_AA_GTC=2126,77,0;ESP6500_CDS_SIZES=NM_014970.3:2379,NM_001204517.1:2259,NM_001204516.1:2247,NM_001204514.1:2145;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=32;ESP6500_EA_AC=7766,830;ESP6500_EA_AGE=178.3+/-227.7;ESP6500_EA_GTC=3508,750,40;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014970.3:intron,NM_001204517.1:intron,NM_001204516.1:intron,NM_001204514.1:intron;ESP6500_GL=KIFAP3;ESP6500_GRCh38_POSITION=1:169983244;ESP6500_GTC=5634,827,40;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_014970.3:c.1506+26C>A,NM_001204517.1:c.1386+26C>A,NM_001204516.1:c.1374+26C>A,NM_001204514.1:c.1272+26C>A;ESP6500_MAF=9.6557,1.7476,6.9758;ESP6500_TAC=12095,907	GT:AD:DP:GQ:PL	1/1:0,20:20:60:598,60,0
chr1	170016418	rs16862931	T	C	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.25;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=0.21;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16862931;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|10/19|c.1183+44A>G||||||,C|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|10/19|c.1063+44A>G||||||,C|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|11/20|c.949+44A>G||||||,C|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|9/18|c.1051+44A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=287;p3_1000G_AF=0.0573083;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=16007;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169985559;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=327,4079;ESP6500_AA_AGE=173.0+/-202.9;ESP6500_AA_GTC=16,295,1892;ESP6500_CDS_SIZES=NM_014970.3:2379,NM_001204517.1:2259,NM_001204516.1:2247,NM_001204514.1:2145;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=53;ESP6500_EA_AC=13,8587;ESP6500_EA_AGE=8.4+/-32.0;ESP6500_EA_GTC=0,13,4287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014970.3:intron,NM_001204517.1:intron,NM_001204516.1:intron,NM_001204514.1:intron;ESP6500_GL=KIFAP3;ESP6500_GRCh38_POSITION=1:170016418;ESP6500_GTC=16,308,6179;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014970.3:c.1183+44A>G,NM_001204517.1:c.1063+44A>G,NM_001204516.1:c.1051+44A>G,NM_001204514.1:c.949+44A>G;ESP6500_MAF=0.1512,7.4217,2.6142;ESP6500_TAC=340,12666	GT:AD:DP:GQ:PL	0/1:8,8:16:99:283,0,201
chr1	170016655	rs16862933	A	G	268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=1.32;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16862933;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_014970.3|protein_coding|9/19|c.1021-31T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204517.1|protein_coding|9/19|c.901-31T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204514.1|protein_coding|10/20|c.787-31T>C||||||,G|intron_variant|MODIFIER|KIFAP3|KIFAP3|transcript|NM_001204516.1|protein_coding|8/18|c.889-31T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1164;p3_1000G_AF=0.232428;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=17137;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.2952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169985796;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=246,4160;ESP6500_AA_GTC=11,224,1968;ESP6500_CDS_SIZES=NM_014970.3:2379,NM_001204517.1:2259,NM_001204516.1:2247,NM_001204514.1:2145;ESP6500_CG=0.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=48;ESP6500_EA_AC=2482,6116;ESP6500_EA_GTC=396,1690,2213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014970.3:intron,NM_001204517.1:intron,NM_001204516.1:intron,NM_001204514.1:intron;ESP6500_GL=KIFAP3;ESP6500_GRCh38_POSITION=1:170016655;ESP6500_GTC=407,1914,4181;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014970.3:c.1021-31T>C,NM_001204517.1:c.901-31T>C,NM_001204516.1:c.889-31T>C,NM_001204514.1:c.787-31T>C;ESP6500_MAF=28.8672,5.5833,20.9782;ESP6500_TAC=2728,10276	GT:AD:DP:GQ:PL	0/1:5,10:15:99:297,0,123
chr1	170166528	rs6427234	C	T	375.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.783;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=5.297;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.505;SOR=0.199;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6427234;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|METTL11B|METTL11B|transcript|NM_001136107.1|protein_coding|3/4|c.357C>T|p.Cys119Cys|418/938|357/852|119/283||;p3_1000G_AA=C|||;p3_1000G_AC=1458;p3_1000G_AF=0.291134;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=16699;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170135669;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=657,727;ESP6500_AA_GTC=159,339,194;ESP6500_CDS_SIZES=NM_001136107.1:852;ESP6500_CG=-7.7;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=82;ESP6500_EA_AC=885,2297;ESP6500_EA_GTC=133,619,839;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001136107.1:coding-synonymous;ESP6500_GL=METTL11B;ESP6500_GRCh38_POSITION=1:170166528;ESP6500_GTC=292,958,1033;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001136107.1:c.357C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001136107.1:p.(C119);ESP6500_MAF=27.8127,47.4711,33.7714;ESP6500_TAC=1542,3024	GT:AD:DP:GQ:PL	0/1:19,18:37:99:404,0,613
chr1	170166619	rs6427235	T	C	768.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-0.234;SOR=0.574;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6427235;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|METTL11B|METTL11B|transcript|NM_001136107.1|protein_coding|3/4|c.448T>C|p.Ser150Pro|509/938|448/852|150/283||;p3_1000G_AA=T|||;p3_1000G_AC=1459;p3_1000G_AF=0.291334;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=18050;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170135760;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=657,727;ESP6500_AA_GTC=159,339,194;ESP6500_CDS_SIZES=NM_001136107.1:852;ESP6500_CG=-1.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=110;ESP6500_EA_AC=885,2297;ESP6500_EA_GTC=133,619,839;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001136107.1:missense;ESP6500_GL=METTL11B;ESP6500_GRCh38_POSITION=1:170166619;ESP6500_GS=74;ESP6500_GTC=292,958,1033;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001136107.1:c.448T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001136107.1:p.(S150P);ESP6500_MAF=27.8127,47.4711,33.7714;ESP6500_PH=benign:0.001;ESP6500_TAC=1542,3024	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,21:49:99:0|1:170166619_T_C:797,0,1522
chr1	170166624	rs6669514	T	C	769.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-0.244;SOR=0.574;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6669514;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|METTL11B|METTL11B|transcript|NM_001136107.1|protein_coding|3/4|c.453T>C|p.Phe151Phe|514/938|453/852|151/283||;p3_1000G_AA=T|||;p3_1000G_AC=1330;p3_1000G_AF=0.265575;p3_1000G_AFR_AF=0.4758;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=18181;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.2207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170135765;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=599,785;ESP6500_AA_GTC=131,337,224;ESP6500_CDS_SIZES=NM_001136107.1:852;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=104;ESP6500_EA_AC=752,2430;ESP6500_EA_GTC=97,558,936;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001136107.1:coding-synonymous;ESP6500_GL=METTL11B;ESP6500_GRCh38_POSITION=1:170166624;ESP6500_GTC=228,895,1160;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001136107.1:c.453T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001136107.1:p.(F151);ESP6500_MAF=23.6329,43.2803,29.5883;ESP6500_TAC=1351,3215	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,21:49:99:0|1:170166619_T_C:798,0,1520
chr1	170532244	rs7531125	A	C	3340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7531125;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|GORAB|GORAB|transcript|NM_152281.2|protein_coding|1/5|c.96A>C|p.Gly32Gly|123/2583|96/1185|32/394||,C|synonymous_variant|LOW|GORAB|GORAB|transcript|NM_001146039.1|protein_coding|1/4|c.96A>C|p.Gly32Gly|123/1707|96/741|32/246||,C|5_prime_UTR_variant|MODIFIER|GORAB|GORAB|transcript|NM_001320252.1|protein_coding|1/7|c.-745A>C|||||10293|,C|intron_variant|MODIFIER|LOC101928650|LOC101928650|transcript|NR_125958.1|pseudogene|1/2|n.162+204T>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|GORAB|GORAB|transcript|NR_027397.1|pseudogene|1/5|n.123A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4645;p3_1000G_AF=0.927516;p3_1000G_AFR_AF=0.7322;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=15904;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170501385;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3589,817;ESP6500_AA_AGE=325.9+/-299.3;ESP6500_AA_GTC=1459,671,73;ESP6500_CDS_SIZES=NM_152281.2:1185,NM_001146039.1:741;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=80;ESP6500_EA_AC=8578,22;ESP6500_EA_AGE=16.0+/-53.3;ESP6500_EA_GTC=4278,22,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152281.2:coding-synonymous,NM_001146039.1:coding-synonymous;ESP6500_GL=GORAB;ESP6500_GRCh38_POSITION=1:170532244;ESP6500_GTC=5737,693,73;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_152281.2:c.96A>C,NM_001146039.1:c.96A>C;ESP6500_HGVS_PROTEIN_VAR=NM_152281.2:p.(G32),NM_001146039.1:p.(G32);ESP6500_MAF=0.2558,18.5429,6.4509;ESP6500_TAC=12167,839	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3369,318,0
chr1	170533376	rs1412892	A	G	532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1412892;dbSNPBuildID=88;ANN=G|upstream_gene_variant|MODIFIER|LOC101928650|LOC101928650|transcript|NR_125958.1|pseudogene||n.-767T>C|||||767|,G|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_152281.2|protein_coding|1/4|c.136+1092A>G||||||,G|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_001146039.1|protein_coding|1/3|c.136+1092A>G||||||,G|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_001320252.1|protein_coding|1/6|c.-704-88A>G||||||,G|intron_variant|MODIFIER|GORAB|GORAB|transcript|NR_027397.1|pseudogene|1/4|n.163+1092A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=18480;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170502517;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:561,39,0
chr1	170536476	rs6669308	G	A	245.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.72;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6669308;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|LOC101928650|LOC101928650|transcript|NR_125958.1|pseudogene||n.-3867C>T|||||3867|,A|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_152281.2|protein_coding|1/4|c.137-2734G>A||||||,A|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_001146039.1|protein_coding|1/3|c.137-2734G>A||||||,A|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_001320252.1|protein_coding|3/6|c.-405+55G>A||||||,A|intron_variant|MODIFIER|GORAB|GORAB|transcript|NR_027397.1|pseudogene|1/4|n.164-2734G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17727;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170505617;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:274,24,0
chr1	170539614	rs5778667	G	GT	180.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.82;SOR=4.174;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141412003,rs5778667;dbSNPBuildID=135;ANN=GT|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_152281.2|protein_coding|2/4|c.494+53dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_001146039.1|protein_coding|2/3|c.494+53dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_001320252.1|protein_coding|4/6|c.-47+53dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|GORAB|GORAB|transcript|NR_027397.1|pseudogene|2/4|n.525+49dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTT|TTTTTT|TTTTTTT|insertion;p3_1000G_AC=1203;p3_1000G_AF=0.240216;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=20813;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.1809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170508755;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=INDEL;ESP6500_AA_AC=238,3934;ESP6500_AA_GTC=20,198,1868;ESP6500_CDS_SIZES=NM_152281.2:1185,NM_001146039.1:741;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=27;ESP6500_EA_AC=1556,6648;ESP6500_EA_GTC=171,1214,2717;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152281.2:intron,NM_001146039.1:intron;ESP6500_GL=GORAB;ESP6500_GRCh38_POSITION=1:170539614;ESP6500_GTC=191,1412,4585;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_152281.2:c.494+47_494+48insT,NM_001146039.1:c.494+47_494+48insT;ESP6500_MAF=18.9664,5.7047,14.4958;ESP6500_TAC=1794,10582	GT:AD:DP:GQ:PL	1/1:0,7:7:21:218,21,0
chr1	170542463	rs7538037	T	C	141.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7538037;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_152281.2|protein_coding|2/4|c.495-28T>C||||||,C|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_001146039.1|protein_coding|2/3|c.495-28T>C||||||,C|intron_variant|MODIFIER|GORAB|GORAB|transcript|NM_001320252.1|protein_coding|4/6|c.-46-28T>C||||||,C|intron_variant|MODIFIER|GORAB|GORAB|transcript|NR_027397.1|pseudogene|2/4|n.526-28T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1852;p3_1000G_AF=0.369808;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=16856;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.3211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170511604;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5368;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=401,4003;ESP6500_AA_AGE=178.0+/-206.8;ESP6500_AA_GTC=21,359,1822;ESP6500_CDS_SIZES=NM_152281.2:1185,NM_001146039.1:741;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=36;ESP6500_EA_AC=2894,5702;ESP6500_EA_AGE=431.3+/-356.8;ESP6500_EA_GTC=511,1872,1915;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152281.2:intron,NM_001146039.1:intron;ESP6500_GL=GORAB;ESP6500_GRCh38_POSITION=1:170542463;ESP6500_GTC=532,2231,3737;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152281.2:c.495-28T>C,NM_001146039.1:c.495-28T>C;ESP6500_MAF=33.6668,9.1054,25.3462;ESP6500_TAC=3295,9705	GT:AD:DP:GQ:PL	1/1:0,5:5:15:170,15,0
chr1	170552235	rs913257;262629	G	A	1853.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs913257;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|GORAB|GORAB|transcript|NM_152281.2|protein_coding|5/5|c.958G>A|p.Glu320Lys|985/2583|958/1185|320/394||,A|missense_variant|MODERATE|GORAB|GORAB|transcript|NM_001320252.1|protein_coding|7/7|c.418G>A|p.Glu140Lys|1285/2883|418/645|140/214||,A|non_coding_transcript_exon_variant|MODIFIER|GORAB|GORAB|transcript|NR_027397.1|pseudogene|5/5|n.989G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2968;p3_1000G_AF=0.592652;p3_1000G_AFR_AF=0.5257;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=20225;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.4692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170521376;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2340,2066;ESP6500_AA_AGE=607.5+/-391.0;ESP6500_AA_GTC=620,1100,483;ESP6500_CDS_SIZES=NM_152281.2:1185;ESP6500_CG=2.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=96;ESP6500_EA_AC=3979,4621;ESP6500_EA_AGE=553.3+/-386.3;ESP6500_EA_GTC=914,2151,1235;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152281.2:missense;ESP6500_GL=GORAB;ESP6500_GRCh38_POSITION=1:170552235;ESP6500_GS=56;ESP6500_GTC=1534,3251,1718;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152281.2:c.958G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152281.2:p.(E320K);ESP6500_MAF=46.2674,46.8906,48.5853;ESP6500_PH=possibly-damaging:0.777;ESP6500_TAC=6319,6687;CLINVAR_AF_ESP=0.4859;CLINVAR_ALLELEID=249533;CLINVAR_CLNDISDB=MedGen:C0432255,OMIM:231070,Orphanet:ORPHA2078,SNOMED_CT:254116003|MedGen:CN169374;CLINVAR_CLNDN=Geroderma_osteodysplastica|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.170552235G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2862|UniProtKB_(protein):Q5T7V8#VAR_027867;CLINVAR_GENEINFO=GORAB:92344;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=913257	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1882,177,0
chr1	170958426	rs571299685	C	A	209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.194;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.124;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|MROH9|MROH9|transcript|NM_001163629.1|protein_coding|3/21|c.73-35C>A||||||,A|intron_variant|MODIFIER|MROH9|MROH9|transcript|NM_025063.2|protein_coding|3/14|c.73-35C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15979;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170927567;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:238,0,205
chr1	170958431	rs35425940;~rs35425940	T	TC	96.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.44;ReadPosRankSum=-1.129;SOR=1.688;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35425940;dbSNPBuildID=126;ANN=TC|intron_variant|MODIFIER|MROH9|MROH9|transcript|NM_001163629.1|protein_coding|3/21|c.73-30_73-29insC||||||,TC|intron_variant|MODIFIER|MROH9|MROH9|transcript|NM_025063.2|protein_coding|3/14|c.73-30_73-29insC||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1454;p3_1000G_AF=0.290335;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=17468;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.1839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170927572;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=INDEL;ESP6500_AA_AC=454,483,2,43,2514;ESP6500_AA_GTC=3,29,0,0,419,23,0,1,407,0,0,2,1,40,823;ESP6500_CDS_SIZES=NM_025063.2:1722,NM_025063.2:1722,NM_025063.2:1722,NM_025063.2:1722,NM_001163629.1:2586,NM_001163629.1:2586,NM_001163629.1:2586,NM_001163629.1:2586;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=37;ESP6500_EA_AC=968,2038,8,82,4708;ESP6500_EA_GTC=5,149,0,2,807,221,0,8,1439,1,0,6,0,72,1192;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025063.2:intron,NM_025063.2:intron,NM_025063.2:intron,NM_025063.2:intron,NM_001163629.1:intron,NM_001163629.1:intron,NM_001163629.1:intron,NM_001163629.1:intron;ESP6500_GL=C1orf129;ESP6500_GRCh38_POSITION=1:170958431;ESP6500_GTC=8,178,0,2,1226,244,0,9,1846,1,0,8,1,112,2015;ESP6500_GTS=A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR;ESP6500_HGVS_CDNA_VAR=NM_025063.2:c.73-29_73-27del3,NM_025063.2:c.73-29_73-26del4,NM_025063.2:c.73-30_73-29insTCTTTT,NM_025063.2:c.73-30_73-29insT,NM_001163629.1:c.73-29_73-27del3,NM_001163629.1:c.73-29_73-26del4,NM_001163629.1:c.73-30_73-29insTCTTTT,NM_001163629.1:c.73-30_73-29insT;ESP6500_MAF=39.672,28.0892,36.0885;ESP6500_TAC=1422,2521,10,125,7222	GT:AD:DP:GQ:PL	0/1:6,7:13:99:134,0,112
chr1	170959530	rs2294740	T	C	950.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.96;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2294740;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|MROH9|MROH9|transcript|NM_001163629.1|protein_coding|5/22|c.221T>C|p.Val74Ala|375/3165|221/2586|74/861||,C|missense_variant|MODERATE|MROH9|MROH9|transcript|NM_025063.2|protein_coding|5/15|c.221T>C|p.Val74Ala|351/2257|221/1722|74/573||;p3_1000G_AA=T|||;p3_1000G_AC=1253;p3_1000G_AF=0.2502;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=16820;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.1312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170928671;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=376,3338;ESP6500_AA_GTC=14,348,1495;ESP6500_CDS_SIZES=NM_025063.2:1722,NM_001163629.1:2586;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=116;ESP6500_EA_AC=1340,6888;ESP6500_EA_GTC=108,1124,2882;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025063.2:missense,NM_001163629.1:missense;ESP6500_GL=C1orf129;ESP6500_GRCh38_POSITION=1:170959530;ESP6500_GS=64,64;ESP6500_GTC=122,1472,4377;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_025063.2:c.221T>C,NM_001163629.1:c.221T>C;ESP6500_HGVS_PROTEIN_VAR=NM_025063.2:p.(V74A),NM_001163629.1:p.(V74A);ESP6500_MAF=16.2859,10.1239,14.3695;ESP6500_PH=possibly-damaging:0.628,possibly-damaging:0.628;ESP6500_TAC=1716,10226	GT:AD:DP:GQ:PL	1/1:0,34:34:99:979,102,0
chr1	171024846	.	G	T	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.287;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=-1.221;SOR=0.105;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|MROH9|MROH9|transcript|NM_001163629.1|protein_coding|19/21|c.2178+81G>T||||||	GT:AD:DP:GQ:PL	0/1:8,2:10:39:39,0,296
chr1	171092849	rs2064074	A	G	801.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.638;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2064074;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|2/8|c.132+59A>G||||||,G|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|2/9|c.-56+59A>G||||||,G|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|2/7|c.132+59A>G||||||,G|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_006894.5|protein_coding|2/8|c.132+59A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2369;p3_1000G_AF=0.473043;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=17560;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.4304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171061990;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,31:63:99:830,0,809
chr1	171101331	rs12404455	G	T	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.319;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12404455;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|MIR1295B|MIR1295B|transcript|NR_049854.1|pseudogene||n.-408G>T|||||408|,T|downstream_gene_variant|MODIFIER|MIR1295A|MIR1295A|transcript|NR_031627.1|pseudogene||n.*397C>A|||||397|,T|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|2/8|c.133-2454G>T||||||,T|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|3/9|c.72+125G>T||||||,T|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|2/7|c.133-6344G>T||||||,T|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_006894.5|protein_coding|2/8|c.133-2454G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=476;p3_1000G_AF=0.0950479;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=17637;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171070472;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:31:97,0,31
chr1	171103721	rs28363536	G	T	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.664;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.71;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28363536;dbSNPBuildID=125;ANN=T|upstream_gene_variant|MODIFIER|MIR1295A|MIR1295A|transcript|NR_031627.1|pseudogene||n.-1915C>A|||||1915|,T|downstream_gene_variant|MODIFIER|MIR1295B|MIR1295B|transcript|NR_049854.1|pseudogene||n.*1923G>T|||||1923|,T|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|2/8|c.133-64G>T||||||,T|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|3/9|c.73-64G>T||||||,T|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|2/7|c.133-3954G>T||||||,T|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_006894.5|protein_coding|2/8|c.133-64G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=487;p3_1000G_AF=0.0972444;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=17919;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171072862;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:271,0,285
chr1	171107825	rs2266782;38394	G	A	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.301;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.801;SOR=1.68;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2266782;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|4/9|c.472G>A|p.Glu158Lys|583/2087|472/1599|158/532||,A|missense_variant|MODERATE|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|5/10|c.412G>A|p.Glu138Lys|693/2197|412/1539|138/512||,A|missense_variant|MODERATE|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|3/8|c.283G>A|p.Glu95Lys|394/1898|283/1410|95/469||,A|missense_variant|MODERATE|FMO3|FMO3|transcript|NM_006894.5|protein_coding|4/9|c.472G>A|p.Glu158Lys|566/2070|472/1599|158/532||;p3_1000G_AA=G|||;p3_1000G_AC=1742;p3_1000G_AF=0.347843;p3_1000G_AFR_AF=0.4955;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=16474;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.3668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171076966;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2050,2356;ESP6500_AA_AGE=565.4+/-381.7;ESP6500_AA_GTC=471,1108,624;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...2328&amp%3Brs...2266782|http://omim.org/entry/136132#0015;ESP6500_CDS_SIZES=NM_006894.5:1599,NM_001002294.2:1599;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=127;ESP6500_EA_AC=3530,5070;ESP6500_EA_AGE=510.4+/-377.5;ESP6500_EA_GTC=692,2146,1462;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006894.5:missense,NM_001002294.2:missense;ESP6500_GL=FMO3;ESP6500_GRCh38_POSITION=1:171107825;ESP6500_GS=56,56;ESP6500_GTC=1163,3254,2086;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006894.5:c.472G>A,NM_001002294.2:c.472G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006894.5:p.(E158K),NM_001002294.2:p.(E158K);ESP6500_MAF=41.0465,46.5275,42.9033;ESP6500_PH=possibly-damaging:0.481,possibly-damaging:0.481;ESP6500_TAC=5580,7426;CLINVAR_AF_ESP=0.4290;CLINVAR_AF_EXAC=0.38297;CLINVAR_AF_TGP=0.3478;CLINVAR_ALLELEID=38476;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED_CT:237959005|MedGen:CN169374;CLINVAR_CLNDISDBINCL=Human_Phenotype_Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED_CT:237959005|MedGen:C4016101;CLINVAR_CLNDN=Trimethylaminuria|not_specified;CLINVAR_CLNDNINCL=Trimethylaminuria|Trimethylaminuria,_mild;CLINVAR_CLNHGVS=NC_000001.11:g.171107825G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNSIGINCL=16318:Pathogenic/Likely_pathogenic|217371:Pathogenic;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=GeneReviews:NBK1103|Illumina_Clinical_Services_Laboratory,Illumina:2874|OMIM_Allelic_Variant:136132.0015|UniProtKB_(protein):P31513#VAR_002425;CLINVAR_GENEINFO=FMO3:2328;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2266782	GT:AD:DP:GQ:PL	0/1:21,15:36:99:378,0,501
chr1	171108024	rs2066529	G	A	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.366;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.407;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.669;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2066529;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|4/8|c.485-55G>A||||||,A|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|5/9|c.425-55G>A||||||,A|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|3/7|c.296-55G>A||||||,A|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_006894.5|protein_coding|4/8|c.485-55G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=489;p3_1000G_AF=0.0976438;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=20205;p3_1000G_EAS_AF=0.1667;p3_1000G_EUR_AF=0.172;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171077165;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,14:31:99:383,0,420
chr1	171108057	rs1920149;260074	G	A	504.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.779;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.191;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.094;SOR=0.485;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1920149;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|4/8|c.485-22G>A||||||,A|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|5/9|c.425-22G>A||||||,A|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|3/7|c.296-22G>A||||||,A|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_006894.5|protein_coding|4/8|c.485-22G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2697;p3_1000G_AF=0.538538;p3_1000G_AFR_AF=0.7405;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=19330;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.4304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171077198;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3083,1323;ESP6500_AA_AGE=441.8+/-346.5;ESP6500_AA_GTC=1070,943,190;ESP6500_CDS_SIZES=NM_006894.5:1599,NM_001002294.2:1599;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=86;ESP6500_EA_AC=4024,4576;ESP6500_EA_AGE=596.8+/-393.7;ESP6500_EA_GTC=915,2194,1191;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006894.5:intron,NM_001002294.2:intron;ESP6500_GL=FMO3;ESP6500_GRCh38_POSITION=1:171108057;ESP6500_GTC=1985,3137,1381;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006894.5:c.485-22G>A,NM_001002294.2:c.485-22G>A;ESP6500_MAF=46.7907,30.0272,45.356;ESP6500_TAC=7107,5899;CLINVAR_ALLELEID=249539;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.171108057G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=FMO3:2328;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1920149	GT:AD:DP:GQ:PL	0/1:24,23:47:99:533,0,667
chr1	171114034	rs909530;260078	C	T	692.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.867;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.412;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs909530;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|7/9|c.855C>T|p.Asn285Asn|966/2087|855/1599|285/532||,T|synonymous_variant|LOW|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|8/10|c.795C>T|p.Asn265Asn|1076/2197|795/1539|265/512||,T|synonymous_variant|LOW|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|6/8|c.666C>T|p.Asn222Asn|777/1898|666/1410|222/469||,T|synonymous_variant|LOW|FMO3|FMO3|transcript|NM_006894.5|protein_coding|7/9|c.855C>T|p.Asn285Asn|949/2070|855/1599|285/532||;p3_1000G_AA=T|||;p3_1000G_AC=1671;p3_1000G_AF=0.333666;p3_1000G_AFR_AF=0.4576;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=19836;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.2356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171083174;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1905,2501;ESP6500_AA_AGE=627.8+/-395.0;ESP6500_AA_GTC=406,1093,704;ESP6500_CDS_SIZES=NM_006894.5:1599,NM_001002294.2:1599;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=79;ESP6500_EA_AC=2094,6506;ESP6500_EA_AGE=717.2+/-406.1;ESP6500_EA_GTC=263,1568,2469;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006894.5:coding-synonymous,NM_001002294.2:coding-synonymous;ESP6500_GL=FMO3;ESP6500_GRCh38_POSITION=1:171114034;ESP6500_GTC=669,2661,3173;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006894.5:c.855C>T,NM_001002294.2:c.855C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006894.5:p.(N285),NM_001002294.2:p.(N285);ESP6500_MAF=24.3488,43.2365,30.7473;ESP6500_TAC=3999,9007;CLINVAR_AF_ESP=0.3075;CLINVAR_AF_EXAC=0.28913;CLINVAR_AF_TGP=0.3337;CLINVAR_ALLELEID=249543;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED_CT:237959005|MedGen:CN169374;CLINVAR_CLNDN=Trimethylaminuria|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.171114034C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2891;CLINVAR_GENEINFO=FMO3:2328;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=909530	GT:AD:DP:GQ:PL	0/1:20,28:48:99:721,0,537
chr1	171114102	rs2266780;38395	A	G	1040.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.352;SOR=0.651;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2266780;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|7/9|c.923A>G|p.Glu308Gly|1034/2087|923/1599|308/532||,G|missense_variant|MODERATE|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|8/10|c.863A>G|p.Glu288Gly|1144/2197|863/1539|288/512||,G|missense_variant|MODERATE|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|6/8|c.734A>G|p.Glu245Gly|845/1898|734/1410|245/469||,G|missense_variant|MODERATE|FMO3|FMO3|transcript|NM_006894.5|protein_coding|7/9|c.923A>G|p.Glu308Gly|1017/2070|923/1599|308/532||;p3_1000G_AA=A|||;p3_1000G_AC=458;p3_1000G_AF=0.0914537;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=19038;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.172;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171083242;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=189,4217;ESP6500_AA_AGE=118.8+/-156.5;ESP6500_AA_GTC=6,177,2020;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...2328&amp%3Brs...2266780|http://omim.org/entry/136132#0015;ESP6500_CDS_SIZES=NM_006894.5:1599,NM_001002294.2:1599;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=137;ESP6500_EA_AC=1619,6981;ESP6500_EA_AGE=300.5+/-305.0;ESP6500_EA_GTC=157,1305,2838;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006894.5:missense,NM_001002294.2:missense;ESP6500_GL=FMO3;ESP6500_GRCh38_POSITION=1:171114102;ESP6500_GS=98,98;ESP6500_GTC=163,1482,4858;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006894.5:c.923A>G,NM_001002294.2:c.923A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006894.5:p.(E308G),NM_001002294.2:p.(E308G);ESP6500_MAF=18.8256,4.2896,13.9013;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=1808,11198;CLINVAR_AF_ESP=0.1390;CLINVAR_AF_EXAC=0.15293;CLINVAR_AF_TGP=0.0915;CLINVAR_ALLELEID=31357;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED_CT:237959005|MedGen:CN169374;CLINVAR_CLNDISDBINCL=Human_Phenotype_Ontology:HP:0003614,MedGen:C0342739,OMIM:602079,Orphanet:ORPHA468726,SNOMED_CT:237959005|MedGen:C4016101;CLINVAR_CLNDN=Trimethylaminuria|not_specified;CLINVAR_CLNDNINCL=Trimethylaminuria|Trimethylaminuria,_mild;CLINVAR_CLNHGVS=NC_000001.11:g.171114102A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNSIGINCL=16318:Pathogenic/Likely_pathogenic;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=GeneReviews:NBK1103|Illumina_Clinical_Services_Laboratory,Illumina:2904|OMIM_Allelic_Variant:136132.0015|UniProtKB_(protein):P31513#VAR_002427;CLINVAR_GENEINFO=FMO3:2328;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2266780	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1069,0,750
chr1	171114397	rs909531;260064	T	C	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.96;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=4.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.109;SOR=1.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs909531;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|7/8|c.1183+35T>C||||||,C|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|8/9|c.1123+35T>C||||||,C|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|6/7|c.994+35T>C||||||,C|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_006894.5|protein_coding|7/8|c.1183+35T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=968;p3_1000G_AF=0.193291;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=18616;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171083537;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1510,2886;ESP6500_AA_GTC=253,1004,941;ESP6500_CDS_SIZES=NM_006894.5:1599,NM_001002294.2:1599;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=23;ESP6500_EA_AC=1614,6966;ESP6500_EA_GTC=164,1286,2840;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006894.5:intron,NM_001002294.2:intron;ESP6500_GL=FMO3;ESP6500_GRCh38_POSITION=1:171114397;ESP6500_GTC=417,2290,3781;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006894.5:c.1183+35T>C,NM_001002294.2:c.1183+35T>C;ESP6500_MAF=18.8112,34.3494,24.0752;ESP6500_TAC=3124,9852;CLINVAR_AF_ESP=0.2408;CLINVAR_AF_EXAC=0.20885;CLINVAR_AF_TGP=0.1933;CLINVAR_ALLELEID=249545;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.171114397T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=FMO3:2328;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=909531	GT:AD:DP:GQ:PL	0/1:28,25:53:99:638,0,693
chr1	171116174	rs1398887399;rs397820586;rs2066528;260065	A	AT	248.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.844;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.03;SOR=0.917;INS;HET;VARTYPE=INS;dbSNP138_ID=rs2066528;dbSNPBuildID=151,136;ANN=AT|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001002294.2|protein_coding|7/8|c.1184-32dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319173.1|protein_coding|8/9|c.1124-32dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_001319174.1|protein_coding|6/7|c.995-32dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|FMO3|FMO3|transcript|NM_006894.5|protein_coding|7/8|c.1184-32dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TT|TTT|deletion;p3_1000G_AC=1673;p3_1000G_AF=0.334065;p3_1000G_AFR_AF=0.4584;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=17283;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.2356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171085314;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=INDEL;ESP6500_AA_AC=1847,2419;ESP6500_AA_GTC=398,1051,684;ESP6500_CDS_SIZES=NM_006894.5:1599,NM_001002294.2:1599;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=114;ESP6500_EA_AC=2019,6235;ESP6500_EA_GTC=257,1505,2365;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006894.5:intron,NM_001002294.2:intron;ESP6500_GL=FMO3;ESP6500_GRCh38_POSITION=1:171116174;ESP6500_GTC=655,2556,3049;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006894.5:c.1184-34_1184-33insT,NM_001002294.2:c.1184-34_1184-33insT;ESP6500_MAF=24.4609,43.2958,30.8786;ESP6500_TAC=3866,8654;CLINVAR_ALLELEID=249546;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.171116176dupT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_GENEINFO=FMO3:2328;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=397820586	GT:AD:DP:GQ:PL	0/1:13,10:23:99:286,0,395
chr1	171208951	rs6661174	C	T	1085.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=116;ANN=T|stop_gained|HIGH|FMO2|FMO2|transcript|NM_001460.4|protein_coding|9/9|c.1414C>T|p.Gln472*|1572/5304|1414/1608|472/535||,T|stop_gained|HIGH|FMO2|FMO2|transcript|NM_001301347.1|protein_coding|7/7|c.754C>T|p.Gln252*|1291/5023|754/948|252/315||;p3_1000G_AA=C|||;p3_1000G_AC=4776;p3_1000G_AF=0.9536741;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16402;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=171178090;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1114,102,0
chr1	171331820	rs2294482	T	C	356.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.306;SOR=0.948;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294482;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|FMO4|FMO4|transcript|NM_002022.2|protein_coding|6/9|c.627+38T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1425;p3_1000G_AF=0.284545;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=19168;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171300959;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=667,3739;ESP6500_AA_AGE=283.4+/-277.1;ESP6500_AA_GTC=43,581,1579;ESP6500_CDS_SIZES=NM_002022.1:1677;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=113;ESP6500_EA_AC=1997,6603;ESP6500_EA_AGE=348.4+/-327.0;ESP6500_EA_GTC=228,1541,2531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002022.1:intron;ESP6500_GL=FMO4;ESP6500_GRCh38_POSITION=1:171331820;ESP6500_GTC=271,2122,4110;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002022.1:c.627+38T>C;ESP6500_MAF=23.2209,15.1384,20.4829;ESP6500_TAC=2664,10342	GT:AD:DP:GQ:PL	0/1:9,14:23:99:385,0,192
chr1	171334786	rs3820170	C	T	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.723;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.247;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820170;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|TOP1P1|TOP1P1|transcript|NR_002719.2|pseudogene||n.-4110C>T|||||4110|,T|intron_variant|MODIFIER|FMO4|FMO4|transcript|NM_002022.2|protein_coding|8/9|c.1180+23C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2713;p3_1000G_AF=0.541733;p3_1000G_AFR_AF=0.6982;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=19131;p3_1000G_EAS_AF=0.4563;p3_1000G_EUR_AF=0.4304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171303925;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2863,1543;ESP6500_AA_GTC=948,967,288;ESP6500_CDS_SIZES=NM_002022.1:1677;ESP6500_CG=4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=28;ESP6500_EA_AC=3608,4992;ESP6500_EA_GTC=802,2004,1494;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002022.1:intron;ESP6500_GL=FMO4;ESP6500_GRCh38_POSITION=1:171334786;ESP6500_GTC=1750,2971,1782;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002022.1:c.1180+23C>T;ESP6500_MAF=41.9535,35.0204,49.754;ESP6500_TAC=6471,6535	GT:AD:DP:GQ:PL	0/1:9,10:19:99:308,0,256
chr1	171341864	rs1042772	A	C	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.478;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.079;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1042772;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|FMO4|FMO4|transcript|NM_002022.2|protein_coding|10/10|c.*25A>C|||||25|,C|downstream_gene_variant|MODIFIER|TOP1P1|TOP1P1|transcript|NR_002719.2|pseudogene||n.*540A>C|||||540|;p3_1000G_AA=c|||;p3_1000G_AC=2882;p3_1000G_AF=0.575479;p3_1000G_AFR_AF=0.7685;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=18255;p3_1000G_EAS_AF=0.4206;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171311003;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3074,1324;ESP6500_AA_GTC=1081,912,206;ESP6500_CDS_SIZES=NM_002022.1:1677;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=27;ESP6500_EA_AC=4027,4557;ESP6500_EA_GTC=978,2071,1243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002022.1:utr-3;ESP6500_GL=FMO4;ESP6500_GRCh38_POSITION=1:171341864;ESP6500_GTC=2059,2983,1449;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002022.1:c.*25A>C;ESP6500_MAF=46.9129,30.1046,45.3012;ESP6500_TAC=7101,5881	GT:AD:DP:GQ:PL	0/1:8,6:14:99:170,0,232
chr1	171514578	rs1055417	A	C	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.233;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=-1.612;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1055417;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|4/34|c.327A>C|p.Ala109Ala|593/10384|327/8454|109/2817||;p3_1000G_AA=A|||;p3_1000G_AC=642;p3_1000G_AF=0.128195;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=16176;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.1859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171483717;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=515,3869;ESP6500_AA_GTC=22,471,1699;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=47;ESP6500_EA_AC=1331,7223;ESP6500_EA_GTC=107,1117,3053;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015172.3:coding-synonymous;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171514578;ESP6500_GTC=129,1588,4752;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.327A>C;ESP6500_HGVS_PROTEIN_VAR=NM_015172.3:p.(A109);ESP6500_MAF=15.56,11.7473,14.268;ESP6500_TAC=1846,11092	GT:AD:DP:GQ:PL	0/1:18,11:29:99:233,0,454
chr1	171522125	rs3736679	T	A	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.524;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736679;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|6/33|c.745-52T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2656;p3_1000G_AF=0.530351;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=10001;p3_1000G_EAS_AF=0.5972;p3_1000G_EUR_AF=0.497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171491264;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:53:94,0,53
chr1	171527756	rs10753126	A	G	482.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10753126;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|10/33|c.1195-35A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4061;p3_1000G_AF=0.810903;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=15219;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.8161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171496895;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3405,981;ESP6500_AA_GTC=1339,727,127;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=42;ESP6500_EA_AC=6964,1578;ESP6500_EA_GTC=2870,1224,177;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015172.3:intron;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171527756;ESP6500_GTC=4209,1951,304;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.1195-35A>G;ESP6500_MAF=18.4734,22.3666,19.7942;ESP6500_TAC=10369,2559	GT:AD:DP:GQ:PL	1/1:0,17:17:51:511,51,0
chr1	171536385	rs12139715	G	A	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.241;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12139715;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|14/33|c.2287+107G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=652;p3_1000G_AF=0.130192;p3_1000G_AFR_AF=0.1188;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=18507;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.1839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171505524;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:142,0,140
chr1	171539875	rs12734261	T	C	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.852;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12734261;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|15/33|c.2499-96T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=669;p3_1000G_AF=0.133586;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=20463;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.1839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171509014;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:181,0,192
chr1	171539919	rs2015996	G	A	570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2015996;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|15/33|c.2499-52G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4044;p3_1000G_AF=0.807508;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=21138;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.8161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171509058;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:599,54,0
chr1	171540188	rs760644	G	A	1153.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs760644;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|16/34|c.2716G>A|p.Ala906Thr|2982/10384|2716/8454|906/2817||;p3_1000G_AA=G|||;p3_1000G_AC=4011;p3_1000G_AF=0.800919;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=20324;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.8151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171509327;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3351,1055;ESP6500_AA_AGE=716.6+/-408.6;ESP6500_AA_GTC=1286,779,138;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=78;ESP6500_EA_AC=6986,1614;ESP6500_EA_AGE=739.1+/-407.1;ESP6500_EA_GTC=2854,1278,168;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015172.3:missense;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171540188;ESP6500_GS=58;ESP6500_GTC=4140,2057,306;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.2716G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015172.3:p.(A906T);ESP6500_MAF=18.7674,23.9446,20.5213;ESP6500_PH=benign:0.001;ESP6500_TAC=10337,2669	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1182,108,0
chr1	171541900	rs1687064	C	G	2359.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.33;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1687064;dbSNPBuildID=89;ANN=G|sequence_feature|MODERATE|PRRC2C|PRRC2C|modified-residue:phosphoserine|NM_015172.3|protein_coding|16/34|c.4428C>G||||||,G|synonymous_variant|LOW|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|16/34|c.4428C>G|p.Ser1476Ser|4694/10384|4428/8454|1476/2817||;p3_1000G_AA=G|||;p3_1000G_AC=4058;p3_1000G_AF=0.810304;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=19776;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.8161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171511039;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3402,1004;ESP6500_AA_AGE=362.1+/-316.0;ESP6500_AA_GTC=1322,758,123;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=68;ESP6500_EA_AC=6970,1630;ESP6500_EA_AGE=288.5+/-298.8;ESP6500_EA_GTC=2843,1284,173;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015172.3:coding-synonymous;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171541900;ESP6500_GTC=4165,2042,296;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.4428C>G;ESP6500_HGVS_PROTEIN_VAR=NM_015172.3:p.(S1476);ESP6500_MAF=18.9535,22.7871,20.2522;ESP6500_TAC=10372,2634	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2388,219,0
chr1	171545592	rs235468	C	G	717.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.63;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs235468;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|17/34|c.4871C>G|p.Ser1624Cys|5137/10384|4871/8454|1624/2817||;p3_1000G_AA=C|||;p3_1000G_AC=4030;p3_1000G_AF=0.804712;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=11348;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.8161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171514731;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3337,1069;ESP6500_AA_AGE=714.8+/-408.4;ESP6500_AA_GTC=1269,799,135;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=3.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=66;ESP6500_EA_AC=6975,1625;ESP6500_EA_AGE=731.2+/-406.8;ESP6500_EA_GTC=2842,1291,167;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015172.3:missense;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171545592;ESP6500_GS=112;ESP6500_GTC=4111,2090,302;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.4871C>G;ESP6500_HGVS_PROTEIN_VAR=NM_015172.3:p.(S1624C);ESP6500_MAF=18.8953,24.2624,20.7135;ESP6500_PH=possibly-damaging:0.547;ESP6500_TAC=10312,2694	GT:AD:DP:GQ:PL	1/1:0,28:28:84:746,84,0
chr1	171549989	rs11358319;rs1403576646;rs397981943	GT	G	12.93	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=6.47;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11358319;dbSNPBuildID=134,151,138;ANN=G|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|17/33|c.4967-81delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3424;p3_1000G_AF=0.683706;p3_1000G_AFR_AF=0.6672;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=16924;p3_1000G_EAS_AF=0.7123;p3_1000G_EUR_AF=0.6928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171519128;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	171557431	rs1687057	G	A	3658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=0.778;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1687057;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|19/34|c.5313G>A|p.Pro1771Pro|5579/10384|5313/8454|1771/2817||;p3_1000G_AA=A|||;p3_1000G_AC=4058;p3_1000G_AF=0.810304;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=16772;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.8161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171526570;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2630,730;ESP6500_AA_GTC=1040,550,90;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=103;ESP6500_EA_AC=4976,1054;ESP6500_EA_GTC=2056,864,95;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015172.3:coding-synonymous;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171557431;ESP6500_GTC=3096,1414,185;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.5313G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015172.3:p.(P1771);ESP6500_MAF=17.4793,21.7262,18.9989;ESP6500_TAC=7606,1784	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3687,363,0
chr1	171558183	rs235482	A	G	1186.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=5.486;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs235482;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|19/33|c.6025+40A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4059;p3_1000G_AF=0.810503;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=14196;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.8161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171527322;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3395,1007;ESP6500_AA_GTC=1321,753,127;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=26;ESP6500_EA_AC=6979,1619;ESP6500_EA_GTC=2847,1285,167;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015172.3:intron;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171558183;ESP6500_GTC=4168,2038,294;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.6025+40A>G;ESP6500_MAF=18.83,22.876,20.2;ESP6500_TAC=10374,2626	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1215,93,0
chr1	171577694	rs6685179	C	A	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.652;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.83;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6685179;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|26/33|c.7153+57C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3276;p3_1000G_AF=0.654153;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=18870;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.6292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171546833;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:200,0,144
chr1	171579478	rs3817772	G	A	810.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.635;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.469;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.327;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3817772;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|27/33|c.7266+12G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1458;p3_1000G_AF=0.291134;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=16970;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.3131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171548617;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=821,3585;ESP6500_AA_AGE=323.4+/-298.1;ESP6500_AA_GTC=75,671,1457;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=60;ESP6500_EA_AC=2995,5605;ESP6500_EA_AGE=457.3+/-364.3;ESP6500_EA_GTC=533,1929,1838;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015172.3:intron;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171579478;ESP6500_GTC=608,2600,3295;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.7266+12G>A;ESP6500_MAF=34.8256,18.6337,29.3403;ESP6500_TAC=3816,9190	GT:AD:DP:GQ:PL	0/1:35,32:67:99:839,0,992
chr1	171579729	rs235489	T	C	473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.29;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs235489;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|27/33|c.7267-99T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4091;p3_1000G_AF=0.816893;p3_1000G_AFR_AF=0.7678;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=18477;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.8181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171548868;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:502,39,0
chr1	171584639	rs235495	A	G	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.674;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs235495;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|30/33|c.7743+113A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=641;p3_1000G_AF=0.127995;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=17108;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171553778;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:70:71,0,70
chr1	171587026	rs235501	G	C	1931.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=1.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs235501;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|PRRC2C|PRRC2C|transcript|NM_015172.3|protein_coding|31/34|c.7767G>C|p.Ser2589Ser|8033/10384|7767/8454|2589/2817||;p3_1000G_AA=C|||;p3_1000G_AC=3972;p3_1000G_AF=0.793131;p3_1000G_AFR_AF=0.7088;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=19652;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.8151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171556165;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3278,1128;ESP6500_AA_AGE=396.7+/-330.2;ESP6500_AA_GTC=1227,824,152;ESP6500_CDS_SIZES=NM_015172.3:8454;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=80;ESP6500_EA_AC=6971,1629;ESP6500_EA_AGE=295.4+/-302.4;ESP6500_EA_GTC=2841,1289,170;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015172.3:coding-synonymous;ESP6500_GL=PRRC2C;ESP6500_GRCh38_POSITION=1:171587026;ESP6500_GTC=4068,2113,322;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015172.3:c.7767G>C;ESP6500_HGVS_PROTEIN_VAR=NM_015172.3:p.(S2589);ESP6500_MAF=18.9419,25.6015,21.1979;ESP6500_TAC=10249,2757	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1960,180,0
chr1	171638562	rs2032555	C	T	2411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2032555;dbSNPBuildID=94;ANN=T|sequence_feature|LOW|MYOC|MYOC|domain:Olfactomedin-like|NM_000261.1|protein_coding|2/2|c.730+35G>A||||||,T|intron_variant|MODIFIER|MYOC|MYOC|transcript|NM_000261.1|protein_coding|2/2|c.730+35G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3929;p3_1000G_AF=0.784545;p3_1000G_AFR_AF=0.8865;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=18799;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.7147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171607702;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3742,664;ESP6500_AA_AGE=280.5+/-275.4;ESP6500_AA_GTC=1595,552,56;ESP6500_CDS_SIZES=NM_000261.1:1515;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=110;ESP6500_EA_AC=6127,2473;ESP6500_EA_AGE=407.7+/-349.2;ESP6500_EA_GTC=2179,1769,352;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000261.1:intron;ESP6500_GL=MYOC;ESP6500_GRCh38_POSITION=1:171638562;ESP6500_GTC=3774,2321,408;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000261.1:c.730+35G>A;ESP6500_MAF=28.7558,15.0704,24.1196;ESP6500_TAC=9869,3137	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2440,246,0
chr1	171652385	rs2234926;193066	C	T	2124.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=0.899;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2234926;dbSNPBuildID=98;ANN=T|missense_variant|MODERATE|MYOC|MYOC|transcript|NM_000261.1|protein_coding|1/3|c.227G>A|p.Arg76Lys|249/2045|227/1515|76/504||;p3_1000G_AA=C|||;p3_1000G_AC=682;p3_1000G_AF=0.136182;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=18797;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.1412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171621525;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=122,4284;ESP6500_AA_AGE=91.1+/-129.8;ESP6500_AA_GTC=2,118,2083;ESP6500_CDS_SIZES=NM_000261.1:1515;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=111;ESP6500_EA_AC=1155,7445;ESP6500_EA_AGE=237.1+/-269.0;ESP6500_EA_GTC=76,1003,3221;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000261.1:missense;ESP6500_GL=MYOC;ESP6500_GRCh38_POSITION=1:171652385;ESP6500_GS=26;ESP6500_GTC=78,1121,5304;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000261.1:c.227G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000261.1:p.(R76K);ESP6500_MAF=13.4302,2.769,9.8185;ESP6500_PH=probably-damaging:0.984;ESP6500_TAC=1277,11729;CLINVAR_AF_ESP=0.0982;CLINVAR_AF_EXAC=0.15010;CLINVAR_AF_TGP=0.1362;CLINVAR_ALLELEID=190231;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0012108,MedGen:C0339573,OMIM:137760,SNOMED_CT:77075001|MedGen:C0017601|MedGen:CN169374;CLINVAR_CLNDN=Primary_open_angle_glaucoma|Glaucoma|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.171652385C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2942|UniProtKB_(protein):Q99972#VAR_009670;CLINVAR_GENEINFO=MYOC:4653;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2234926	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2153,186,0
chr1	171704609	rs3835498	AT	A	203.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.677;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.497;SOR=0.33;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3835498;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|VAMP4|VAMP4|transcript|NM_003762.4|protein_coding|7/7|c.398-76delA||||||,A|intron_variant|MODIFIER|VAMP4|VAMP4|transcript|NM_001185127.1|protein_coding|7/7|c.395-76delA||||||,A|intron_variant|MODIFIER|VAMP4|VAMP4|transcript|NR_033704.1|pseudogene|7/8|n.777-76delA||||||;p3_1000G_AA=T|T|-|deletion;p3_1000G_AC=714;p3_1000G_AF=0.142572;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=17129;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.1769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171673749;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=INDEL;ESP6500_AA_AC=511,3739;ESP6500_AA_GTC=41,429,1655;ESP6500_CDS_SIZES=NM_003762.4:426,NM_001185127.1:423;ESP6500_CG=2.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=54;ESP6500_EA_AC=1617,6563;ESP6500_EA_GTC=169,1279,2642;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003762.4:intron,NM_001185127.1:intron;ESP6500_GL=VAMP4;ESP6500_GRCh38_POSITION=1:171704609;ESP6500_GTC=210,1708,4297;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003762.4:c.398-76del1,NM_001185127.1:c.395-76del1;ESP6500_MAF=19.7677,12.0235,17.1199;ESP6500_TAC=2128,10302	GT:AD:DP:GQ:PL	0/1:7,7:14:99:241,0,240
chr1	171710818	rs10913530	G	A	1248.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=1.556;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10913530;dbSNPBuildID=120;ANN=A|splice_region_variant&intron_variant|LOW|VAMP4|VAMP4|transcript|NM_003762.4|protein_coding|4/7|c.165-4C>T||||||,A|splice_region_variant&intron_variant|LOW|VAMP4|VAMP4|transcript|NM_001185127.1|protein_coding|4/7|c.162-4C>T||||||,A|splice_region_variant&intron_variant|LOW|VAMP4|VAMP4|transcript|NR_033704.1|pseudogene|4/8|n.544-4C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1758;p3_1000G_AF=0.351038;p3_1000G_AFR_AF=0.5083;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=16389;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.2883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171679958;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2067,2339;ESP6500_AA_AGE=568.0+/-382.3;ESP6500_AA_GTC=502,1063,638;ESP6500_CDS_SIZES=NM_003762.4:426,NM_001185127.1:423;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=144;ESP6500_EA_AC=2646,5950;ESP6500_EA_AGE=424.7+/-354.7;ESP6500_EA_GTC=422,1802,2074;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003762.4:intron,NM_001185127.1:intron;ESP6500_GL=VAMP4;ESP6500_GRCh38_POSITION=1:171710818;ESP6500_GTC=924,2865,2712;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003762.4:c.165-4C>T,NM_001185127.1:c.162-4C>T;ESP6500_MAF=30.7818,46.9133,36.2483;ESP6500_TAC=4713,8289	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1277,126,0
chr1	171728357	rs55670848	C	T	83.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55670848;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|VAMP4|VAMP4|transcript|NM_003762.4|protein_coding|3/7|c.113+167G>A||||||,T|intron_variant|MODIFIER|VAMP4|VAMP4|transcript|NM_001185127.1|protein_coding|3/7|c.113+167G>A||||||,T|intron_variant|MODIFIER|VAMP4|VAMP4|transcript|NR_033704.1|pseudogene|3/8|n.492+167G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=748;p3_1000G_AF=0.149361;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=19308;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.1789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171697497;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:111,9,0
chr1	171781911	rs2294719	A	G	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-0.687;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294719;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|METTL13|METTL13|transcript|NM_015935.4|protein_coding|1/8|c.-57A>G|||||57|,G|5_prime_UTR_variant|MODIFIER|METTL13|METTL13|transcript|NM_001007239.1|protein_coding|1/8|c.-57A>G|||||57|,G|intron_variant|MODIFIER|METTL13|METTL13|transcript|NM_014955.2|protein_coding|1/7|c.-106+116A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2432;p3_1000G_AF=0.485623;p3_1000G_AFR_AF=0.5666;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=18112;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171751051;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,13:21:99:384,0,168
chr1	171782096	rs2294720	T	C	390.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.57;ReadPosRankSum=0.652;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2294720;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|METTL13|METTL13|transcript|NM_015935.4|protein_coding|1/8|c.129T>C|p.His43His|476/3407|129/2100|43/699||,C|synonymous_variant|LOW|METTL13|METTL13|transcript|NM_001007239.1|protein_coding|1/8|c.129T>C|p.His43His|476/2939|129/1632|43/543||,C|intron_variant|MODIFIER|METTL13|METTL13|transcript|NM_014955.2|protein_coding|1/7|c.-106+301T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2673;p3_1000G_AF=0.533746;p3_1000G_AFR_AF=0.73;p3_1000G_AMR_AF=0.4395;p3_1000G_AN=5008;p3_1000G_DP=17775;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.4443;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171751236;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3080,1326;ESP6500_AA_AGE=445.1+/-347.6;ESP6500_AA_GTC=1091,898,214;ESP6500_CDS_SIZES=NM_015935.4:2100,NM_014955.2:1842,NM_001007239.1:1632;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=4046,4554;ESP6500_EA_AGE=595.7+/-393.5;ESP6500_EA_GTC=940,2166,1194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015935.4:coding-synonymous,NM_014955.2:intron,NM_001007239.1:coding-synonymous;ESP6500_GL=METTL13;ESP6500_GRCh38_POSITION=1:171782096;ESP6500_GTC=2031,3064,1408;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015935.4:c.129T>C,NM_014955.2:c.-1749T>C,NM_001007239.1:c.129T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015935.4:p.(H43),.,NM_001007239.1:p.(H43);ESP6500_MAF=47.0465,30.0953,45.2099;ESP6500_TAC=7126,5880	GT:AD:DP:GQ:PL	0/1:7,12:19:99:419,0,176
chr1	171783899	rs2232816	A	G	1313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.145;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=1.724;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.113;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2232816;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|METTL13|METTL13|transcript|NM_015935.4|protein_coding|2/8|c.313A>G|p.Met105Val|660/3407|313/2100|105/699||,G|missense_variant|MODERATE|METTL13|METTL13|transcript|NM_001007239.1|protein_coding|2/8|c.313A>G|p.Met105Val|660/2939|313/1632|105/543||,G|missense_variant|MODERATE|METTL13|METTL13|transcript|NM_014955.2|protein_coding|2/8|c.55A>G|p.Met19Val|335/3082|55/1842|19/613||;p3_1000G_AA=A|||;p3_1000G_AC=1537;p3_1000G_AF=0.306909;p3_1000G_AFR_AF=0.2829;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=23620;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.2445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171753039;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1364,3042;ESP6500_AA_AGE=453.0+/-350.2;ESP6500_AA_GTC=221,922,1060;ESP6500_CDS_SIZES=NM_015935.4:2100,NM_014955.2:1842,NM_001007239.1:1632;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=126;ESP6500_EA_AC=2340,6260;ESP6500_EA_AGE=392.4+/-344.0;ESP6500_EA_GTC=334,1672,2294;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015935.4:missense,NM_014955.2:missense,NM_001007239.1:missense;ESP6500_GL=METTL13;ESP6500_GRCh38_POSITION=1:171783899;ESP6500_GS=21,21,21;ESP6500_GTC=555,2594,3354;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015935.4:c.313A>G,NM_014955.2:c.55A>G,NM_001007239.1:c.313A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015935.4:p.(M105V),NM_014955.2:p.(M19V),NM_001007239.1:p.(M105V);ESP6500_MAF=27.2093,30.9578,28.4792;ESP6500_PH=benign:0.023,benign:0.023,benign:0.023;ESP6500_TAC=3704,9302	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1342,0,1108
chr1	171786030	rs2232818	G	A	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.785;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.97;ReadPosRankSum=2.23;SOR=1.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2232818;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|METTL13|METTL13|transcript|NM_015935.4|protein_coding|3/8|c.1065G>A|p.Ser355Ser|1412/3407|1065/2100|355/699||,A|synonymous_variant|LOW|METTL13|METTL13|transcript|NM_001007239.1|protein_coding|3/8|c.597G>A|p.Ser199Ser|944/2939|597/1632|199/543||,A|synonymous_variant|LOW|METTL13|METTL13|transcript|NM_014955.2|protein_coding|3/8|c.807G>A|p.Ser269Ser|1087/3082|807/1842|269/613||;p3_1000G_AA=G|||;p3_1000G_AC=1593;p3_1000G_AF=0.318091;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=20059;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.2445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171755170;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1528,2878;ESP6500_AA_AGE=479.9+/-358.7;ESP6500_AA_GTC=277,974,952;ESP6500_CDS_SIZES=NM_015935.4:2100,NM_014955.2:1842,NM_001007239.1:1632;ESP6500_CG=-10.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=48;ESP6500_EA_AC=2341,6259;ESP6500_EA_AGE=389.4+/-342.9;ESP6500_EA_GTC=334,1673,2293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015935.4:coding-synonymous,NM_014955.2:coding-synonymous,NM_001007239.1:coding-synonymous;ESP6500_GL=METTL13;ESP6500_GRCh38_POSITION=1:171786030;ESP6500_GTC=611,2647,3245;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015935.4:c.1065G>A,NM_014955.2:c.807G>A,NM_001007239.1:c.597G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015935.4:p.(S355),NM_014955.2:p.(S269),NM_001007239.1:p.(S199);ESP6500_MAF=27.2209,34.68,29.7478;ESP6500_TAC=3869,9137	GT:AD:DP:GQ:PL	0/1:25,15:40:99:347,0,594
chr1	171794382	rs909958	C	A	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.185;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.213;SOR=0.929;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs909958;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|METTL13|METTL13|transcript|NM_015935.4|protein_coding|6/7|c.1694-14C>A||||||,A|intron_variant|MODIFIER|METTL13|METTL13|transcript|NM_001007239.1|protein_coding|6/7|c.1226-14C>A||||||,A|intron_variant|MODIFIER|METTL13|METTL13|transcript|NM_014955.2|protein_coding|6/7|c.1436-14C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1571;p3_1000G_AF=0.313698;p3_1000G_AFR_AF=0.3071;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=20845;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.2445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171763522;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1474,2932;ESP6500_AA_AGE=473.7+/-356.8;ESP6500_AA_GTC=250,974,979;ESP6500_CDS_SIZES=NM_015935.4:2100,NM_014955.2:1842,NM_001007239.1:1632;ESP6500_CG=1.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=81;ESP6500_EA_AC=2353,6247;ESP6500_EA_AGE=393.4+/-344.3;ESP6500_EA_GTC=336,1681,2283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015935.4:intron,NM_014955.2:intron,NM_001007239.1:intron;ESP6500_GL=METTL13;ESP6500_GRCh38_POSITION=1:171794382;ESP6500_GTC=586,2655,3262;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015935.4:c.1694-14C>A,NM_014955.2:c.1436-14C>A,NM_001007239.1:c.1226-14C>A;ESP6500_MAF=27.3605,33.4544,29.4249;ESP6500_TAC=3827,9179	GT:AD:DP:GQ:PL	0/1:29,16:45:99:399,0,782
chr1	171796451	rs2232826	G	A	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.661;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.354;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2232826;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|METTL13|METTL13|transcript|NM_015935.4|protein_coding|7/7|c.1826-31G>A||||||,A|intron_variant|MODIFIER|METTL13|METTL13|transcript|NM_001007239.1|protein_coding|7/7|c.1358-31G>A||||||,A|intron_variant|MODIFIER|METTL13|METTL13|transcript|NM_014955.2|protein_coding|7/7|c.1568-31G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1486;p3_1000G_AF=0.296725;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=20634;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.2425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171765591;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1252,3154;ESP6500_AA_AGE=429.1+/-342.1;ESP6500_AA_GTC=184,884,1135;ESP6500_CDS_SIZES=NM_015935.4:2100,NM_014955.2:1842,NM_001007239.1:1632;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=106;ESP6500_EA_AC=2329,6271;ESP6500_EA_AGE=388.2+/-342.5;ESP6500_EA_GTC=332,1665,2303;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015935.4:intron,NM_014955.2:intron,NM_001007239.1:intron;ESP6500_GL=METTL13;ESP6500_GRCh38_POSITION=1:171796451;ESP6500_GTC=516,2549,3438;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015935.4:c.1826-31G>A,NM_014955.2:c.1568-31G>A,NM_001007239.1:c.1358-31G>A;ESP6500_MAF=27.0814,28.4158,27.5334;ESP6500_TAC=3581,9425	GT:AD:DP:GQ:PL	0/1:19,17:36:99:494,0,524
chr1	171841820	rs12239702	A	G	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.598;SOR=2.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12239702;dbSNPBuildID=120;ANN=G|splice_region_variant&intron_variant|LOW|DNM3|DNM3|transcript|NM_015569.4|protein_coding|1/20|c.161+3A>G||||||,G|splice_region_variant&intron_variant|LOW|DNM3|DNM3|transcript|NM_001278252.1|protein_coding|1/14|c.161+3A>G||||||,G|splice_region_variant&intron_variant|LOW|DNM3|DNM3|transcript|NM_001136127.2|protein_coding|1/19|c.161+3A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=3169;p3_1000G_AF=0.632788;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=10315;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.5437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171810960;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3014,1334;ESP6500_AA_GTC=1068,878,228;ESP6500_CDS_SIZES=NM_015569.3:2592,NM_001136127.1:2580;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=18;ESP6500_EA_AC=4881,3695;ESP6500_EA_GTC=1404,2073,811;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015569.3:intron,NM_001136127.1:intron;ESP6500_GL=DNM3;ESP6500_GRCh38_POSITION=1:171841820;ESP6500_GTC=2472,2951,1039;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015569.3:c.161+3A>G,NM_001136127.1:c.161+3A>G;ESP6500_MAF=43.0854,30.6808,38.9121;ESP6500_TAC=7895,5029	GT:AD:DP:GQ:PL	0/1:3,3:6:93:110,0,93
chr1	172068939	rs12760234	T	C	384.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.37;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.581;SOR=1.063;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12760234;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_015569.4|protein_coding|11/20|c.1422+34T>C||||||,C|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_001278252.1|protein_coding|11/14|c.1422+34T>C||||||,C|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_001136127.2|protein_coding|11/19|c.1422+34T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1239;p3_1000G_AF=0.247404;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=16992;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.4076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172038079;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=388,3420;ESP6500_AA_GTC=25,338,1541;ESP6500_CDS_SIZES=NM_015569.3:2592,NM_001136127.1:2580;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=25;ESP6500_EA_AC=3045,5121;ESP6500_EA_GTC=543,1959,1581;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015569.3:intron,NM_001136127.1:intron;ESP6500_GL=DNM3;ESP6500_GRCh38_POSITION=1:172068939;ESP6500_GTC=568,2297,3122;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015569.3:c.1422+34T>C,NM_001136127.1:c.1422+34T>C;ESP6500_MAF=37.2888,10.1891,28.6705;ESP6500_TAC=3433,8541	GT:AD:DP:GQ:PL	0/1:24,16:40:99:413,0,629
chr1	172253489	rs374567538;rs757808601	TCTCTC	T	82.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=1.65;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs374567538;dbSNPBuildID=142,144;ANN=T|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_015569.4|protein_coding|14/20|c.1660-32_1660-28delTCTCC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_001136127.2|protein_coding|14/19|c.1660-32_1660-28delTCTCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2473;p3_1000G_AF=0.49381;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=10332;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.4245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172222629;p3_1000G_GRCH37_REF=TCTCTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,3:5:99:120,0,110
chr1	172308705	rs200321314	AT	A	19.78	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=-0.182;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs200321314;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_015569.4|protein_coding|15/20|c.1770-9delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_001136127.2|protein_coding|15/19|c.1770-9delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:12,4:16:57:57,0,265
chr1	172387297	rs6688654	A	G	2434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=1.013;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6688654;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|DNM3|DNM3|transcript|NM_015569.4|protein_coding|19/21|c.2223A>G|p.Thr741Thr|2402/7647|2223/2592|741/863||,G|synonymous_variant|LOW|DNM3|DNM3|transcript|NM_001136127.2|protein_coding|18/20|c.2211A>G|p.Thr737Thr|2390/7635|2211/2580|737/859||;p3_1000G_AA=G|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=14992;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9871;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172356437;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4108,12;ESP6500_AA_GTC=2048,12,0;ESP6500_CDS_SIZES=NM_015569.3:2592,NM_001136127.1:2580;ESP6500_CG=-10.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=39;ESP6500_EA_AC=8269,121;ESP6500_EA_GTC=4075,119,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015569.3:coding-synonymous,NM_001136127.1:coding-synonymous;ESP6500_GL=DNM3;ESP6500_GRCh38_POSITION=1:172387297;ESP6500_GTC=6123,131,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015569.3:c.2223A>G,NM_001136127.1:c.2211A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015569.3:p.(T741),NM_001136127.1:p.(T737);ESP6500_MAF=1.4422,0.2913,1.0631;ESP6500_TAC=12377,133	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2463,251,0
chr1	172387442	rs2269612	G	A	404.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2269612;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_015569.4|protein_coding|19/20|c.2285+83G>A||||||,A|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_001136127.2|protein_coding|18/19|c.2273+83G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2591;p3_1000G_AF=0.517372;p3_1000G_AFR_AF=0.0976;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=13358;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172356582;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:433,33,0
chr1	172388786	rs2301454	G	A	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.098;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=1.67;SOR=1.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2301454;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|DNM3|DNM3|transcript|NM_015569.4|protein_coding|20/21|c.2499G>A|p.Thr833Thr|2678/7647|2499/2592|833/863||,A|synonymous_variant|LOW|DNM3|DNM3|transcript|NM_001136127.2|protein_coding|19/20|c.2487G>A|p.Thr829Thr|2666/7635|2487/2580|829/859||;p3_1000G_AA=G|||;p3_1000G_AC=66;p3_1000G_AF=0.0131789;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16476;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172357926;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=0,3678;ESP6500_AA_GTC=0,0,1839;ESP6500_CDS_SIZES=NM_015569.3:2592,NM_001136127.1:2580;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=18;ESP6500_EA_AC=3,8171;ESP6500_EA_GTC=0,3,4084;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015569.3:coding-synonymous,NM_001136127.1:coding-synonymous;ESP6500_GL=DNM3;ESP6500_GRCh38_POSITION=1:172388786;ESP6500_GTC=0,3,5923;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015569.3:c.2499G>A,NM_001136127.1:c.2487G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015569.3:p.(T833),NM_001136127.1:p.(T829);ESP6500_MAF=0.0367,0.0,0.0253;ESP6500_TAC=3,11849	GT:AD:DP:GQ:PL	0/1:9,14:23:99:399,0,232
chr1	172407669	rs9425600	T	C	889.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.91;SOR=4.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9425600;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_015569.4|protein_coding|20/20|c.2523-103T>C||||||,C|intron_variant|MODIFIER|DNM3|DNM3|transcript|NM_001136127.2|protein_coding|19/19|c.2511-103T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1258;p3_1000G_AF=0.251198;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=19908;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172376809;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:918,69,0
chr1	172430206	rs200979934	TAA	T	1967.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=1.559;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200979934;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|1/6|c.21+9301_21+9302delAA||||||;p3_1000G_AC=1313;p3_1000G_AF=0.262181;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=19174;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.2018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172399346;p3_1000G_GRCH37_REF=TAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,45:45:99:2005,135,0
chr1	172442356	rs2230471	A	G	2835.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=0.812;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2230471;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|PIGC|PIGC|transcript|NM_002642.3|protein_coding|2/2|c.267T>C|p.Gly89Gly|601/1500|267/894|89/297||,G|synonymous_variant|LOW|PIGC|PIGC|transcript|NM_153747.1|protein_coding|2/2|c.267T>C|p.Gly89Gly|578/1477|267/894|89/297||,G|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|1/6|c.22-2717A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4628;p3_1000G_AF=0.924121;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=19631;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172411496;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3933,473;ESP6500_AA_AGE=222.6+/-239.4;ESP6500_AA_GTC=1750,433,20;ESP6500_CDS_SIZES=NM_153747.1:894,NM_139240.3:552,NM_002642.3:894;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=69;ESP6500_EA_AC=7171,1429;ESP6500_EA_AGE=273.9+/-290.9;ESP6500_EA_GTC=2985,1201,114;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153747.1:coding-synonymous,NM_139240.3:intron,NM_002642.3:coding-synonymous;ESP6500_GL=PIGC,C1orf105;ESP6500_GRCh38_POSITION=1:172442356;ESP6500_GTC=4735,1634,134;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153747.1:c.267T>C,NM_139240.3:c.22-2717A>G,NM_002642.3:c.267T>C;ESP6500_HGVS_PROTEIN_VAR=NM_153747.1:p.(G89),.,NM_002642.3:p.(G89);ESP6500_MAF=16.6163,10.7354,14.624;ESP6500_TAC=11104,1902	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2864,261,0
chr1	172442628	rs13932	T	C	1350.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13932;dbSNPBuildID=52;ANN=C|5_prime_UTR_variant|MODIFIER|PIGC|PIGC|transcript|NM_002642.3|protein_coding|2/2|c.-6A>G|||||6|,C|5_prime_UTR_variant|MODIFIER|PIGC|PIGC|transcript|NM_153747.1|protein_coding|2/2|c.-6A>G|||||6|,C|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|1/6|c.22-2445T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1264;p3_1000G_AF=0.252396;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=21244;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.2048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172411768;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=663,3743;ESP6500_AA_AGE=233.9+/-246.9;ESP6500_AA_GTC=58,547,1598;ESP6500_CDS_SIZES=NM_153747.1:894,NM_139240.3:552,NM_002642.3:894;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=109;ESP6500_EA_AC=1906,6694;ESP6500_EA_AGE=292.7+/-301.0;ESP6500_EA_GTC=209,1488,2603;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153747.1:utr-5,NM_139240.3:intron,NM_002642.3:utr-5;ESP6500_GL=PIGC,C1orf105;ESP6500_GRCh38_POSITION=1:172442628;ESP6500_GTC=267,2035,4201;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153747.1:c.-6A>G,NM_139240.3:c.22-2445T>C,NM_002642.3:c.-6A>G;ESP6500_MAF=22.1628,15.0477,19.7524;ESP6500_TAC=2569,10437	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1379,126,0
chr1	172448641	rs2157451	A	G	301.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2157451;dbSNPBuildID=96;ANN=G|upstream_gene_variant|MODIFIER|PIGC|PIGC|transcript|NM_002642.3|protein_coding||c.-6019T>C|||||4551|,G|upstream_gene_variant|MODIFIER|PIGC|PIGC|transcript|NM_153747.1|protein_coding||c.-6019T>C|||||4551|,G|upstream_gene_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_001300760.1|protein_coding||c.-4381A>G|||||4252|,G|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|3/6|c.198+110A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4745;p3_1000G_AF=0.947484;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=18371;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172417781;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:330,24,0
chr1	172453069	rs2285175	C	T	1389.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.21;SOR=1.203;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2285175;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|C1orf105|C1orf105|transcript|NM_001300760.1|protein_coding|1/5|c.48C>T|p.Val16Val|177/886|48/522|16/173||,T|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|3/6|c.199-3346C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1534;p3_1000G_AF=0.30631;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=21401;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172422209;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3538;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1418,138,0
chr1	172462070	rs4916261	G	A	191.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4916261;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|4/6|c.274-108G>A||||||,A|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_001300760.1|protein_coding|2/4|c.244-108G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4247;p3_1000G_AF=0.848043;p3_1000G_AFR_AF=0.6967;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=21219;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172431210;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:220,18,0
chr1	172465169	rs9425328	G	A	115.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9425328;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|5/6|c.342-130G>A||||||,A|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_001300760.1|protein_coding|3/4|c.312-130G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4209;p3_1000G_AF=0.840455;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=12444;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172434309;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:143,12,0
chr1	172465235	rs2901655	G	A	787.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2901655;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|5/6|c.342-64G>A||||||,A|intron_variant|MODIFIER|C1orf105|C1orf105|transcript|NM_001300760.1|protein_coding|3/4|c.312-64G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4246;p3_1000G_AF=0.847843;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=12926;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172434375;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9346;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=997,387;ESP6500_AA_GTC=359,279,54;ESP6500_CDS_SIZES=NM_139240.3:552;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=73;ESP6500_EA_AC=2479,703;ESP6500_EA_GTC=990,499,102;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139240.3:intron;ESP6500_GL=C1orf105;ESP6500_GRCh38_POSITION=1:172465235;ESP6500_GTC=1349,778,156;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_139240.3:c.342-64G>A;ESP6500_MAF=22.093,27.9624,23.8721;ESP6500_TAC=3476,1090	GT:AD:DP:GQ:PL	1/1:0,24:24:72:816,72,0
chr1	172468452	rs1129942	G	A	983.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1129942;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|C1orf105|C1orf105|transcript|NM_139240.3|protein_coding|7/7|c.410G>A|p.Ser137Asn|608/985|410/552|137/183||,A|missense_variant|MODERATE|C1orf105|C1orf105|transcript|NM_001300760.1|protein_coding|5/5|c.380G>A|p.Ser127Asn|509/886|380/522|127/173||;p3_1000G_AA=G|||;p3_1000G_AC=4213;p3_1000G_AF=0.841254;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=17525;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8072;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172437592;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3120,1286;ESP6500_AA_AGE=694.7+/-405.8;ESP6500_AA_GTC=1073,974,156;ESP6500_CDS_SIZES=NM_139240.3:552;ESP6500_CG=1.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=137;ESP6500_EA_AC=6750,1850;ESP6500_EA_AGE=729.4+/-406.7;ESP6500_EA_GTC=2647,1456,197;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_139240.3:missense;ESP6500_GL=C1orf105;ESP6500_GRCh38_POSITION=1:172468452;ESP6500_GS=46;ESP6500_GTC=3720,2430,353;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_139240.3:c.410G>A;ESP6500_HGVS_PROTEIN_VAR=NM_139240.3:p.(S137N);ESP6500_MAF=21.5116,29.1875,24.1119;ESP6500_PH=benign:0.04;ESP6500_TAC=9870,3136	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1012,87,0
chr1	172532503	rs2239816	T	C	1131.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.995;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0.07;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2239816;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|SUCO|SUCO|transcript|NM_016227.3|protein_coding|1/23|c.31T>C|p.Ser11Pro|155/5916|31/4218|11/1405||,C|upstream_gene_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282750.1|protein_coding||c.-933T>C|||||615|,C|upstream_gene_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282751.1|protein_coding||c.-56288T>C|||||615|,C|upstream_gene_variant|MODIFIER|SUCO|SUCO|transcript|NM_014283.4|protein_coding||c.-933T>C|||||615|;p3_1000G_AA=T|||;p3_1000G_AC=1251;p3_1000G_AF=0.2498;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=20715;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172501643;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=787,3053;ESP6500_AA_GTC=76,635,1209;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=50;ESP6500_EA_AC=2051,6205;ESP6500_EA_GTC=231,1589,2308;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:172532503;ESP6500_GTC=307,2224,3517;ESP6500_GTS=CC,CT,TT;ESP6500_MAF=24.8425,20.4948,23.4623;ESP6500_TAC=2838,9258	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1160,0,819
chr1	172533200	rs2285143	T	C	231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.188;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.268;SOR=0.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2285143;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|SUCO|SUCO|transcript|NM_016227.3|protein_coding|2/23|c.350T>C|p.Leu117Pro|474/5916|350/4218|117/1405||,C|5_prime_UTR_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282750.1|protein_coding|1/23|c.-236T>C|||||236|,C|5_prime_UTR_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282751.1|protein_coding|1/22|c.-1765T>C|||||55591|,C|5_prime_UTR_variant|MODIFIER|SUCO|SUCO|transcript|NM_014283.4|protein_coding|1/24|c.-236T>C|||||236|;p3_1000G_AA=C|||;p3_1000G_AC=1821;p3_1000G_AF=0.363618;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=8298;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.2545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172502340;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:260,0,208
chr1	172533339	rs2285144	T	C	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.99;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-1.65;SOR=1.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2285144;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|SUCO|SUCO|transcript|NM_016227.3|protein_coding|2/23|c.489T>C|p.Ile163Ile|613/5916|489/4218|163/1405||,C|5_prime_UTR_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282750.1|protein_coding|1/23|c.-97T>C|||||97|,C|5_prime_UTR_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282751.1|protein_coding|1/22|c.-1626T>C|||||55452|,C|5_prime_UTR_variant|MODIFIER|SUCO|SUCO|transcript|NM_014283.4|protein_coding|1/24|c.-97T>C|||||97|;p3_1000G_AA=C|||;p3_1000G_AC=2952;p3_1000G_AF=0.589457;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=14641;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172502479;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1833,821;ESP6500_AA_GTC=635,563,129;ESP6500_CDS_SIZES=NM_016227.2:3633,NM_014283.3:3765;ESP6500_CG=3.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=32;ESP6500_EA_AC=2718,1900;ESP6500_EA_GTC=818,1082,409;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016227.2:utr-5,NM_014283.3:utr-5;ESP6500_GL=SUCO;ESP6500_GRCh38_POSITION=1:172533339;ESP6500_GTC=1453,1645,538;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016227.2:c.-97T>C,NM_014283.3:c.-97T>C;ESP6500_MAF=41.1434,30.9344,37.4175;ESP6500_TAC=4551,2721	GT:AD:DP:GQ:PL	0/1:19,9:28:99:263,0,505
chr1	172533587	rs55696309	TA	T	100.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.272;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs55696309;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|SUCO|SUCO|transcript|NM_016227.3|protein_coding|2/22|c.647+91delA||||||,T|intron_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282750.1|protein_coding|1/22|c.62+91delA||||||,T|intron_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282751.1|protein_coding|1/21|c.-1468+91delA||||||,T|intron_variant|MODIFIER|SUCO|SUCO|transcript|NM_014283.4|protein_coding|1/23|c.62+91delA||||||;p3_1000G_AA=?|A|-|unsure;p3_1000G_AC=1275;p3_1000G_AF=0.254593;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=17597;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172502727;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,4:8:99:138,0,138
chr1	172553462	rs1159378	G	A	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.664;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.466;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1159378;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|SUCO|SUCO|transcript|NM_016227.3|protein_coding|3/22|c.762+1836G>A||||||,A|intron_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282750.1|protein_coding|2/22|c.177+1836G>A||||||,A|intron_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282751.1|protein_coding|3/21|c.-1242+92G>A||||||,A|intron_variant|MODIFIER|SUCO|SUCO|transcript|NM_014283.4|protein_coding|3/23|c.288+92G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1476;p3_1000G_AF=0.294728;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=18763;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172522602;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:248,0,254
chr1	172578325	rs2285664	A	G	597.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.22;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.478;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2285664;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|SUCO|SUCO|transcript|NM_016227.3|protein_coding|13/23|c.1821A>G|p.Glu607Glu|1945/5916|1821/4218|607/1405||,G|synonymous_variant|LOW|SUCO|SUCO|transcript|NM_001282750.1|protein_coding|13/23|c.1257A>G|p.Glu419Glu|1575/4544|1257/2652|419/883||,G|synonymous_variant|LOW|SUCO|SUCO|transcript|NM_014283.4|protein_coding|14/24|c.1368A>G|p.Glu456Glu|1686/5657|1368/3765|456/1254||,G|5_prime_UTR_variant|MODIFIER|SUCO|SUCO|transcript|NM_001282751.1|protein_coding|14/22|c.-162A>G|||||10466|;p3_1000G_AA=A|||;p3_1000G_AC=1273;p3_1000G_AF=0.254193;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=17330;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.2296;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172547465;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1025,3381;ESP6500_AA_AGE=378.3+/-322.8;ESP6500_AA_GTC=111,803,1289;ESP6500_CDS_SIZES=NM_016227.2:3633,NM_014283.3:3765;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=127;ESP6500_EA_AC=2069,6531;ESP6500_EA_AGE=359.0+/-331.4;ESP6500_EA_GTC=229,1611,2460;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016227.2:coding-synonymous,NM_014283.3:coding-synonymous;ESP6500_GL=SUCO;ESP6500_GRCh38_POSITION=1:172578325;ESP6500_GTC=340,2414,3749;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016227.2:c.1236A>G,NM_014283.3:c.1368A>G;ESP6500_HGVS_PROTEIN_VAR=NM_016227.2:p.(E412),NM_014283.3:p.(E456);ESP6500_MAF=24.0581,23.2637,23.789;ESP6500_TAC=3094,9912	GT:AD:DP:GQ:PL	0/1:34,24:58:99:626,0,824
chr1	172665594	rs2639653	T	C	983.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.36;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2639653;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|FASLG|FASLG|transcript|NM_000639.2|protein_coding|3/3|c.452-28T>C||||||,C|intron_variant|MODIFIER|FASLG|FASLG|transcript|NM_001302746.1|protein_coding|2/2|c.*22-28T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4987;p3_1000G_AF=0.995807;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20585;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172634734;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4390,16;ESP6500_AA_AGE=23.3+/-48.9;ESP6500_AA_GTC=2187,16,0;ESP6500_CDS_SIZES=NM_000639.1:846;ESP6500_CG=-0.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=63;ESP6500_EA_AC=8446,154;ESP6500_EA_AGE=73.5+/-136.2;ESP6500_EA_GTC=4148,150,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000639.1:intron;ESP6500_GL=FASLG;ESP6500_GRCh38_POSITION=1:172665594;ESP6500_GTC=6335,166,2;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000639.1:c.452-28T>C;ESP6500_MAF=1.7907,0.3631,1.3071;ESP6500_TAC=12836,170	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1012,84,0
chr1	173487878	rs4611;rs78495657	C	T	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.965;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=5.035;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-0.479;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78495657;dbSNPBuildID=52;ANN=T|3_prime_UTR_variant|MODIFIER|PRDX6|PRDX6|transcript|NM_004905.2|protein_coding|5/5|c.*15C>T|||||15|;p3_1000G_AA=T|||;p3_1000G_AC=2084;p3_1000G_AF=0.416134;p3_1000G_AFR_AF=0.6921;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=18378;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.2058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173457017;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2738,1668;ESP6500_AA_AGE=497.2+/-363.8;ESP6500_AA_GTC=867,1004,332;ESP6500_CDS_SIZES=NM_004905.2:675;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=46;ESP6500_EA_AC=2072,6528;ESP6500_EA_AGE=715.6+/-406.1;ESP6500_EA_GTC=243,1586,2471;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004905.2:utr-3;ESP6500_GL=PRDX6;ESP6500_GRCh38_POSITION=1:173487878;ESP6500_GTC=1110,2590,2803;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004905.2:c.*15C>T;ESP6500_MAF=24.093,37.8575,36.9829;ESP6500_TAC=4810,8196	GT:AD:DP:GQ:PL	0/1:8,10:18:99:311,0,252
chr1	173503412	rs10912625	T	C	520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10912625;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|26/27|c.3311-86A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1525;p3_1000G_AF=0.304513;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=17589;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173472551;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:549,51,0
chr1	173505123	rs6687872	G	A	431.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6687872;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|26/27|c.3310+124C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1524;p3_1000G_AF=0.304313;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=21490;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173474262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:460,42,0
chr1	173505290	rs12026637	T	C	1154.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12026637;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|26/28|c.3267A>G|p.Gln1089Gln|3690/4427|3267/3375|1089/1124||;p3_1000G_AA=T|||;p3_1000G_AC=1524;p3_1000G_AF=0.304313;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=20902;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173474429;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=212,4194;ESP6500_AA_AGE=127.8+/-164.7;ESP6500_AA_GTC=7,198,1998;ESP6500_CDS_SIZES=NM_178527.3:3375;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=118;ESP6500_EA_AC=1782,6818;ESP6500_EA_AGE=320.8+/-314.8;ESP6500_EA_GTC=185,1412,2703;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178527.3:coding-synonymous;ESP6500_GL=SLC9C2;ESP6500_GRCh38_POSITION=1:173505290;ESP6500_GTC=192,1610,4701;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178527.3:c.3267A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178527.3:p.(Q1089);ESP6500_MAF=20.7209,4.8116,15.3314;ESP6500_TAC=1994,11012	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1183,102,0
chr1	173509509	rs10737303	T	C	106.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.51;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10737303;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|24/27|c.3039+59A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2251;p3_1000G_AF=0.449481;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=17112;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173478648;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:134,12,0
chr1	173521268	rs200616970;rs561593226	TAA	T	151.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.68;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs200616970;dbSNPBuildID=137,142;ANN=T|intron_variant|MODIFIER|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|22/27|c.2739+31_2739+32delTT||||||	GT:AD:DP:GQ:PL	0/1:1,6:7:0:186,0,0
chr1	173524173	rs10912633	A	G	142.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10912633;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|20/27|c.2515-79T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2459;p3_1000G_AF=0.491014;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=20070;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.3748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173493312;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:170,12,0
chr1	173533898	rs10912635	A	G	138.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10912635;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|16/27|c.1975-101T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1582;p3_1000G_AF=0.315895;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=13439;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173503037;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:166,12,0
chr1	173537060	rs117086900	G	A	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.949;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-2.243;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117086900;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|13/27|c.1558-21C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=70;p3_1000G_AF=0.0139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17953;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173506199;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:301,0,455
chr1	173547732	rs16846206	G	C	1338.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=1.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16846206;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|13/28|c.1514C>G|p.Ala505Gly|1937/4427|1514/3375|505/1124||;p3_1000G_AA=G|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=18034;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.2107;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173516871;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=584,3822;ESP6500_AA_AGE=256.7+/-261.4;ESP6500_AA_GTC=38,508,1657;ESP6500_CDS_SIZES=NM_178527.3:3375;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=147;ESP6500_EA_AC=1771,6829;ESP6500_EA_AGE=319.3+/-314.1;ESP6500_EA_GTC=183,1405,2712;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_178527.3:missense;ESP6500_GL=SLC9C2;ESP6500_GRCh38_POSITION=1:173547732;ESP6500_GS=60;ESP6500_GTC=221,1913,4369;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_178527.3:c.1514C>G;ESP6500_HGVS_PROTEIN_VAR=NM_178527.3:p.(A505G);ESP6500_MAF=20.593,13.2547,18.107;ESP6500_PH=benign:0.167;ESP6500_TAC=2355,10651	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1367,134,0
chr1	173547764	rs10494490	A	G	1386.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=1.714;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10494490;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|13/28|c.1482T>C|p.Asn494Asn|1905/4427|1482/3375|494/1124||;p3_1000G_AA=G|||;p3_1000G_AC=2430;p3_1000G_AF=0.485224;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=18236;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.2147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173516903;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2607,1799;ESP6500_AA_AGE=529.7+/-372.7;ESP6500_AA_GTC=790,1027,386;ESP6500_CDS_SIZES=NM_178527.3:3375;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=137;ESP6500_EA_AC=1797,6803;ESP6500_EA_AGE=733.2+/-406.9;ESP6500_EA_GTC=188,1421,2691;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178527.3:coding-synonymous;ESP6500_GL=SLC9C2;ESP6500_GRCh38_POSITION=1:173547764;ESP6500_GTC=978,2448,3077;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178527.3:c.1482T>C;ESP6500_HGVS_PROTEIN_VAR=NM_178527.3:p.(N494);ESP6500_MAF=20.8953,40.8307,33.8613;ESP6500_TAC=4404,8602	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1415,135,0
chr1	173583644	rs12032386	G	A	418.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.17;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12032386;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SLC9C2|SLC9C2|transcript|NM_178527.3|protein_coding|5/27|c.524-22C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2634;p3_1000G_AF=0.525958;p3_1000G_AFR_AF=0.7398;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=18497;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.2614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173552783;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2857,1539;ESP6500_AA_GTC=961,935,302;ESP6500_CDS_SIZES=NM_178527.3:3375;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=42;ESP6500_EA_AC=2155,6421;ESP6500_EA_GTC=273,1609,2406;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178527.3:intron;ESP6500_GL=SLC9C2;ESP6500_GRCh38_POSITION=1:173583644;ESP6500_GTC=1234,2544,2708;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178527.3:c.524-22C>T;ESP6500_MAF=25.1283,35.0091,38.6371;ESP6500_TAC=5012,7960	GT:AD:DP:GQ:PL	1/1:0,16:16:48:447,48,0
chr1	173637068	rs12067170	T	A	93.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.377;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.366;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12067170;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|LOC730159|LOC730159|transcript|NM_001195190.1|protein_coding|2/2|c.*32T>A|||||32|,A|intron_variant|MODIFIER|ANKRD45|ANKRD45|transcript|NM_198493.2|protein_coding|3/5|c.496+9778A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2376;p3_1000G_AF=0.474441;p3_1000G_AFR_AF=0.826;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=17632;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.2664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173606207;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:122,0,148
chr1	173646826	rs7539322	C	T	406.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.075;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=7.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.357;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7539322;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ANKRD45|ANKRD45|transcript|NM_198493.2|protein_coding|3/5|c.496+20G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=570;p3_1000G_AF=0.113818;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=20152;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.0785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173615965;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=165,4241;ESP6500_AA_AGE=107.8+/-146.2;ESP6500_AA_GTC=4,157,2042;ESP6500_CDS_SIZES=NM_198493.2:801;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=95;ESP6500_EA_AC=749,7851;ESP6500_EA_AGE=177.8+/-227.3;ESP6500_EA_GTC=34,681,3585;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198493.2:intron;ESP6500_GL=ANKRD45;ESP6500_GRCh38_POSITION=1:173646826;ESP6500_GTC=38,838,5627;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198493.2:c.496+20G>A;ESP6500_MAF=8.7093,3.7449,7.0275;ESP6500_TAC=914,12092	GT:AD:DP:GQ:PL	0/1:19,15:34:99:435,0,588
chr1	173828320	rs549430098	C	G	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.381;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=0.349;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|upstream_gene_variant|MODIFIER|CENPL|CENPL|transcript|NM_001127181.2|protein_coding||c.-17021G>C|||||3681|,G|upstream_gene_variant|MODIFIER|CENPL|CENPL|transcript|NM_001171182.1|protein_coding||c.-17021G>C|||||4188|,G|upstream_gene_variant|MODIFIER|CENPL|CENPL|transcript|NM_033319.3|protein_coding||c.-17021G>C|||||3681|,G|intron_variant|MODIFIER|DARS2|DARS2|transcript|NM_018122.4|protein_coding|2/16|c.228-13C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12814;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173797458;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:211,0,107
chr1	173850283	rs764622620	C	CA	44.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.641;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.949;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=-0.933;SOR=0.28;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201467171,rs67987090;dbSNPBuildID=144;ANN=CA|intron_variant|MODIFIER|DARS2|DARS2|transcript|NM_018122.4|protein_coding|12/16|c.1192-29dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:14,7:21:82:82,0,240
chr1	173886160	rs1322775	A	T	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.061;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1322775;dbSNPBuildID=88;ANN=T|3_prime_UTR_variant|MODIFIER|ZBTB37|ZBTB37|transcript|NM_001122770.1|protein_coding|5/5|c.*36A>T|||||36|;p3_1000G_AA=T|||;p3_1000G_AC=2680;p3_1000G_AF=0.535144;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=17464;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173855298;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=990,344;ESP6500_AA_GTC=386,218,63;ESP6500_CDS_SIZES=NM_001122770.1:1512;ESP6500_CG=-3.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=3;ESP6500_EA_AC=1022,2062;ESP6500_EA_GTC=234,554,754;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001122770.1:utr-3;ESP6500_GL=ZBTB37;ESP6500_GRCh38_POSITION=1:173886160;ESP6500_GTC=620,772,817;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001122770.1:c.*36A>T;ESP6500_MAF=33.1388,25.7871,45.541;ESP6500_TAC=2012,2406	GT:AD:DP:GQ:PL	0/1:10,8:18:99:245,0,321
chr1	173907567	rs2759328	C	T	577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.906;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=1.02;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2759328;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SERPINC1|SERPINC1|transcript|NM_000488.3|protein_coding|5/6|c.1154-53G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=636;p3_1000G_AF=0.126997;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=20348;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.0954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173876705;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=94,1290;ESP6500_AA_GTC=3,88,601;ESP6500_CDS_SIZES=NM_000488.3:1395;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=336,2846;ESP6500_EA_GTC=13,310,1268;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000488.3:intron;ESP6500_GL=SERPINC1;ESP6500_GRCh38_POSITION=1:173907567;ESP6500_GTC=16,398,1869;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000488.3:c.1154-53G>A;ESP6500_MAF=10.5594,6.7919,9.4174;ESP6500_TAC=430,4136	GT:AD:DP:GQ:PL	0/1:21,21:42:99:606,0,661
chr1	173909694	rs5878;256247	T	C	1341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=0.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.078;SOR=0.767;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5878;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|SERPINC1|SERPINC1|transcript|NM_000488.3|protein_coding|5/7|c.1011A>G|p.Gln337Gln|1130/1599|1011/1395|337/464||;p3_1000G_AA=C|||;p3_1000G_AC=2683;p3_1000G_AF=0.535743;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=20073;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.3469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173878832;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3358,1048;ESP6500_AA_AGE=383.0+/-324.7;ESP6500_AA_GTC=1281,796,126;ESP6500_CDS_SIZES=NM_000488.3:1395;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=161;ESP6500_EA_AC=2992,5608;ESP6500_EA_AGE=666.0+/-402.3;ESP6500_EA_GTC=516,1960,1824;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000488.3:coding-synonymous;ESP6500_GL=SERPINC1;ESP6500_GRCh38_POSITION=1:173909694;ESP6500_GTC=1797,2756,1950;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000488.3:c.1011A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000488.3:p.(Q337);ESP6500_MAF=34.7907,23.7857,48.8236;ESP6500_TAC=6350,6656;CLINVAR_AF_ESP=0.4882;CLINVAR_AF_EXAC=0.40286;CLINVAR_ALLELEID=249550;CLINVAR_CLNDISDB=MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED_CT:36351005|MedGen:CN169374;CLINVAR_CLNDN=Antithrombin_III_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.173909694T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2909;CLINVAR_GENEINFO=SERPINC1:462;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5878	GT:AD:DP:GQ:PL	0/1:60,51:111:99:1370,0,1565
chr1	173909724	rs5877;256248	T	C	1410.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=0.727;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.375;SOR=0.565;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5877;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|SERPINC1|SERPINC1|transcript|NM_000488.3|protein_coding|5/7|c.981A>G|p.Val327Val|1100/1599|981/1395|327/464||;p3_1000G_AA=C|||;p3_1000G_AC=2731;p3_1000G_AF=0.545327;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=20145;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.34;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173878862;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3326,1080;ESP6500_AA_AGE=391.4+/-328.1;ESP6500_AA_GTC=1257,812,134;ESP6500_CDS_SIZES=NM_000488.3:1395;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=142;ESP6500_EA_AC=2964,5636;ESP6500_EA_AGE=668.0+/-402.5;ESP6500_EA_GTC=505,1954,1841;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000488.3:coding-synonymous;ESP6500_GL=SERPINC1;ESP6500_GRCh38_POSITION=1:173909724;ESP6500_GTC=1762,2766,1975;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000488.3:c.981A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000488.3:p.(V327);ESP6500_MAF=34.4651,24.512,48.3623;ESP6500_TAC=6290,6716;CLINVAR_AF_ESP=0.4836;CLINVAR_AF_EXAC=0.40788;CLINVAR_ALLELEID=249551;CLINVAR_CLNDISDB=MedGen:C0272375,OMIM:613118,Orphanet:ORPHA82,SNOMED_CT:36351005|MedGen:CN169374;CLINVAR_CLNDN=Antithrombin_III_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.173909724T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2920;CLINVAR_GENEINFO=SERPINC1:462;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5877	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1439,0,1382
chr1	173917078	rs2227589	C	T	198.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.234;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.269;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2227589;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|SERPINC1|SERPINC1|transcript|NM_000488.3|protein_coding|1/6|c.41+141G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=644;p3_1000G_AF=0.128594;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=19402;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.0954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173886216;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,10:24:99:227,0,400
chr1	173978433	rs78576697	T	C	29.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.718;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=-0.718;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78576697;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300850.1|protein_coding|6/18|c.1102+55A>G||||||,C|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300851.1|protein_coding|6/18|c.1102+55A>G||||||,C|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300852.1|protein_coding|6/18|c.1102+55A>G||||||,C|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_172071.3|protein_coding|6/18|c.1102+55A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=630;p3_1000G_AF=0.125799;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=15912;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173947571;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:58:58,0,191
chr1	173983401	rs6686083	T	A	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.321;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.54;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.51;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6686083;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300850.1|protein_coding|3/18|c.592+17A>T||||||,A|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300851.1|protein_coding|3/18|c.592+17A>T||||||,A|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300852.1|protein_coding|3/18|c.592+17A>T||||||,A|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_172071.3|protein_coding|3/18|c.592+17A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2441;p3_1000G_AF=0.48742;p3_1000G_AFR_AF=0.8956;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=18736;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.2396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173952539;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3437,969;ESP6500_AA_AGE=362.1+/-316.0;ESP6500_AA_GTC=1366,705,132;ESP6500_CDS_SIZES=NM_172071.2:3402;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=75;ESP6500_EA_AC=2062,6538;ESP6500_EA_AGE=718.9+/-406.2;ESP6500_EA_GTC=257,1548,2495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172071.2:intron;ESP6500_GL=RC3H1;ESP6500_GRCh38_POSITION=1:173983401;ESP6500_GTC=1623,2253,2627;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_172071.2:c.592+17A>T;ESP6500_MAF=23.9767,21.9927,42.2805;ESP6500_TAC=5499,7507	GT:AD:DP:GQ:PL	0/1:14,12:26:99:307,0,388
chr1	173992697	rs765200828	C	CAG	115.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.622;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.68;MQRankSum=-0.792;QD=8.27;ReadPosRankSum=0.375;SOR=0.412;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10635556;dbSNPBuildID=144;ANN=CAG|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300850.1|protein_coding|1/18|c.231+57_231+58insCT||||||,CAG|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300851.1|protein_coding|1/18|c.231+57_231+58insCT||||||,CAG|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300852.1|protein_coding|1/18|c.231+57_231+58insCT||||||,CAG|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_172071.3|protein_coding|1/18|c.231+57_231+58insCT||||||	GT:AD:DP:GQ:PL	0/1:8,6:14:99:153,0,396
chr1	173992699	rs6425268	C	G	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.852;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.7;MQRankSum=-0.792;QD=19.98;ReadPosRankSum=0.439;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6425268;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300850.1|protein_coding|1/18|c.231+56G>C||||||,G|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300851.1|protein_coding|1/18|c.231+56G>C||||||,G|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_001300852.1|protein_coding|1/18|c.231+56G>C||||||,G|intron_variant|MODIFIER|RC3H1|RC3H1|transcript|NM_172071.3|protein_coding|1/18|c.231+56G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=1207;p3_1000G_AF=0.241014;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=17211;p3_1000G_EAS_AF=0.3899;p3_1000G_EUR_AF=0.2237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173961837;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:308,0,390
chr1	174305086	rs142260750	G	A	368.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.993;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0.198;SOR=0.809;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142260750;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|RABGAP1L|RABGAP1L|transcript|NM_014857.4|protein_coding|11/21|c.1424G>A|p.Gly475Glu|1701/3010|1424/2448|475/815||;p3_1000G_AA=G|||;p3_1000G_AC=21;p3_1000G_AF=0.00419329;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16308;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174274224;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,18:44:99:397,0,583
chr1	174394018	rs150517419	C	T	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=9.436;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=1.53;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150517419;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|RABGAP1L|RABGAP1L|transcript|NM_014857.4|protein_coding|13/21|c.1583C>T|p.Pro528Leu|1860/3010|1583/2448|528/815||;ESP6500_AA=C;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_014857.4:2448;ESP6500_CG=4.3;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=148;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014857.4:missense;ESP6500_GL=RABGAP1L;ESP6500_GRCh38_POSITION=1:174394018;ESP6500_GS=98;ESP6500_GTC=0,1,6502;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014857.4:c.1583C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014857.4:p.(P528L);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:12,16:28:99:486,0,269
chr1	174448093	rs7516240	G	A	1197.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7516240;dbSNPBuildID=116;ANN=A|5_prime_UTR_variant|MODIFIER|GPR52|GPR52|transcript|NM_005684.4|protein_coding|1/1|c.-19G>A|||||19|,A|intron_variant|MODIFIER|RABGAP1L|RABGAP1L|transcript|NM_014857.4|protein_coding|13/20|c.1710+53948G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4934;p3_1000G_AF=0.985224;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=15281;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9543;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174417231;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4379,27;ESP6500_AA_AGE=34.3+/-65.2;ESP6500_AA_GTC=2177,25,1;ESP6500_CDS_SIZES=NM_014857.4:2448,NM_005684.4:1086;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=87;ESP6500_EA_AC=8219,381;ESP6500_EA_AGE=124.6+/-183.3;ESP6500_EA_GTC=3926,367,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014857.4:intron,NM_005684.4:utr-5;ESP6500_GL=GPR52,RABGAP1L;ESP6500_GRCh38_POSITION=1:174448093;ESP6500_GTC=6103,392,8;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014857.4:c.1710+53948G>A,NM_005684.4:c.-19G>A;ESP6500_MAF=4.4302,0.6128,3.137;ESP6500_TAC=12598,408	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1226,114,0
chr1	174705247	rs11393757	G	GT	1886.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=1.136;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11393757;dbSNPBuildID=130;ANN=GT|intron_variant|MODIFIER|RABGAP1L|RABGAP1L|transcript|NM_014857.4|protein_coding|17/20|c.2169+2992dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TT|T|TT|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17396;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174674385;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1924,156,0
chr1	174989971	rs41266060	G	A	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.413;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=1.25;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41266060;dbSNPBuildID=127;ANN=A|synonymous_variant|LOW|RABGAP1L|RABGAP1L|transcript|NM_001243765.1|protein_coding|9/9|c.1083G>A|p.Pro361Pro|1519/6856|1083/1113|361/370||,A|synonymous_variant|LOW|RABGAP1L|RABGAP1L|transcript|NM_001243764.1|protein_coding|7/7|c.732G>A|p.Pro244Pro|911/6248|732/762|244/253||;p3_1000G_AA=G|||;p3_1000G_AC=695;p3_1000G_AF=0.138778;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=16684;p3_1000G_EAS_AF=0.3254;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174959108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:91:91,0,215
chr1	175000135	rs1046439	C	T	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.022;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.122;SOR=0.842;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1046439;dbSNPBuildID=86;ANN=T|5_prime_UTR_variant|MODIFIER|CACYBP|CACYBP|transcript|NM_014412.2|protein_coding|1/6|c.-46C>T|||||46|,T|downstream_gene_variant|MODIFIER|RABGAP1L|RABGAP1L|transcript|NM_001243765.1|protein_coding||c.*10134C>T|||||4827|,T|downstream_gene_variant|MODIFIER|RABGAP1L|RABGAP1L|transcript|NM_001243764.1|protein_coding||c.*10134C>T|||||4827|,T|intron_variant|MODIFIER|CACYBP|CACYBP|transcript|NM_001007214.1|protein_coding|1/5|c.-115+446C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3704;p3_1000G_AF=0.739617;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=12187;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.6918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174969271;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4080,320;ESP6500_AA_GTC=1900,280,20;ESP6500_CDS_SIZES=NM_014412.2:687,NM_001007214.1:558;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=18;ESP6500_EA_AC=5938,2644;ESP6500_EA_GTC=2072,1794,425;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014412.2:utr-5,NM_001007214.1:intron;ESP6500_GL=CACYBP;ESP6500_GRCh38_POSITION=1:175000135;ESP6500_GTC=3972,2074,445;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014412.2:c.-46C>T,NM_001007214.1:c.-4593C>T;ESP6500_MAF=30.8087,7.2727,22.8316;ESP6500_TAC=10018,2964	GT:AD:DP:GQ:PL	0/1:14,10:24:99:261,0,483
chr1	175077352	rs2072033	G	A	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.039;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=1.48;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072033;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|1/18|c.-35-32G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2861;p3_1000G_AF=0.571286;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=21039;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.508;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175046488;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,14:24:99:384,0,270
chr1	175077653	rs2072032	A	G	1076.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.735;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.734;SOR=0.644;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072032;dbSNPBuildID=96;ANN=G|missense_variant|MODERATE|TNN|TNN|transcript|NM_022093.1|protein_coding|2/19|c.235A>G|p.Arg79Gly|348/5008|235/3900|79/1299||;p3_1000G_AA=G|||;p3_1000G_AC=2862;p3_1000G_AF=0.571486;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=20294;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.508;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175046789;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3417,989;ESP6500_AA_AGE=369.1+/-318.9;ESP6500_AA_GTC=1335,747,121;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=53;ESP6500_EA_AC=4314,4286;ESP6500_EA_AGE=575.3+/-390.2;ESP6500_EA_GTC=1079,2156,1065;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022093.1:missense;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175077653;ESP6500_GS=125;ESP6500_GTC=2414,2903,1186;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.235A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022093.1:p.(R79G);ESP6500_MAF=49.8372,22.4467,40.5582;ESP6500_PH=benign:0.0;ESP6500_TAC=7731,5275	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1105,0,1003
chr1	175083692	rs2072031	G	A	222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.069;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.294;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.19;ReadPosRankSum=0.506;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072031;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|4/18|c.1049-58G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1478;p3_1000G_AF=0.295128;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=22037;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175052828;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,10:31:99:251,0,744
chr1	175083965	rs2072030	A	T	928.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.21;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.635;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072030;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|5/18|c.1234+30A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2726;p3_1000G_AF=0.544329;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=22082;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.508;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175053101;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3037,1369;ESP6500_AA_AGE=454.7+/-350.8;ESP6500_AA_GTC=1035,967,201;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=76;ESP6500_EA_AC=4315,4285;ESP6500_EA_AGE=574.8+/-390.1;ESP6500_EA_GTC=1079,2157,1064;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:intron;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175083965;ESP6500_GTC=2114,3124,1265;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.1234+30A>T;ESP6500_MAF=49.8256,31.0713,43.4722;ESP6500_TAC=7352,5654	GT:AD:DP:GQ:PL	0/1:37,34:71:99:957,0,917
chr1	175085412	rs1573758	C	T	798.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.245;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.637;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1573758;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|TNN|TNN|transcript|NM_022093.1|protein_coding|6/19|c.1242C>T|p.His414His|1355/5008|1242/3900|414/1299||;p3_1000G_AA=C|||;p3_1000G_AC=2710;p3_1000G_AF=0.541134;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=14988;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.508;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175054548;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3003,1403;ESP6500_AA_AGE=679.8+/-403.7;ESP6500_AA_GTC=1011,981,211;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=50;ESP6500_EA_AC=4316,4284;ESP6500_EA_AGE=572.7+/-389.7;ESP6500_EA_GTC=1079,2158,1063;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:coding-synonymous;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175085412;ESP6500_GTC=2090,3139,1274;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.1242C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022093.1:p.(H414);ESP6500_MAF=49.814,31.8429,43.726;ESP6500_TAC=7319,5687	GT:AD:DP:GQ:PL	0/1:23,31:54:99:827,0,593
chr1	175117325	rs6690229	A	G	569.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.75;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=2.191;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.414;SOR=0.304;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6690229;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|10/18|c.2386+120A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3245;p3_1000G_AF=0.647963;p3_1000G_AFR_AF=0.9576;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=20057;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175086461;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,18:37:99:598,0,595
chr1	175118748	rs2269654	C	T	1498.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.822;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=2.783;MLEAC=1;MLEAF=0.5;MQ=59.99;MQRankSum=-1.137;QD=15.61;ReadPosRankSum=-0.293;SOR=1.045;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2269654;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TNN|TNN|transcript|NM_022093.1|protein_coding|11/19|c.2574C>T|p.Gly858Gly|2687/5008|2574/3900|858/1299||;p3_1000G_AA=C|||;p3_1000G_AC=866;p3_1000G_AF=0.172923;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=18416;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.1292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175087884;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=213,4193;ESP6500_AA_GTC=5,203,1995;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=1011,7589;ESP6500_EA_GTC=83,845,3372;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:coding-synonymous;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175118748;ESP6500_GTC=88,1048,5367;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.2574C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022093.1:p.(G858);ESP6500_MAF=11.7558,4.8343,9.411;ESP6500_TAC=1224,11782	GT:AD:DP:GQ:PGT:PID:PL	0/1:55,41:96:99:0|1:175118748_C_T:1527,0,2923
chr1	175118749	rs6694078	A	G	1498.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=3.89;MLEAC=1;MLEAF=0.5;MQ=59.99;MQRankSum=-1.148;QD=15.45;ReadPosRankSum=-0.104;SOR=1.099;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6694078;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|TNN|TNN|transcript|NM_022093.1|protein_coding|11/19|c.2575A>G|p.Met859Val|2688/5008|2575/3900|859/1299||;p3_1000G_AA=G|||;p3_1000G_AC=866;p3_1000G_AF=0.172923;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=18400;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.1292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175087885;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=222,4184;ESP6500_AA_GTC=5,212,1986;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=1.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=1065,7535;ESP6500_EA_GTC=84,897,3319;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:missense;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175118749;ESP6500_GS=21;ESP6500_GTC=89,1109,5305;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.2575A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022093.1:p.(M859V);ESP6500_MAF=12.3837,5.0386,9.8954;ESP6500_PH=benign:0.0;ESP6500_TAC=1287,11719	GT:AD:DP:GQ:PGT:PID:PL	0/1:56,41:97:99:0|1:175118748_C_T:1527,0,2923
chr1	175123538	rs2285215	C	T	1057.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.543;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.618;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2285215;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TNN|TNN|transcript|NM_022093.1|protein_coding|12/19|c.2789C>T|p.Pro930Leu|2902/5008|2789/3900|930/1299||;p3_1000G_AA=C|||;p3_1000G_AC=2996;p3_1000G_AF=0.598243;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=17437;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.6421;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175092674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2669,1737;ESP6500_AA_AGE=647.4+/-398.5;ESP6500_AA_GTC=798,1073,332;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=86;ESP6500_EA_AC=5434,3166;ESP6500_EA_AGE=655.1+/-401.2;ESP6500_EA_GTC=1732,1970,598;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:missense;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175123538;ESP6500_GS=98;ESP6500_GTC=2530,3043,930;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.2789C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022093.1:p.(P930L);ESP6500_MAF=36.814,39.4235,37.698;ESP6500_PH=probably-damaging:0.973;ESP6500_TAC=8103,4903	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1086,0,1501
chr1	175123704	rs2072041	T	C	1103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.596;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.344;SOR=0.662;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072041;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|12/18|c.2914+41T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2997;p3_1000G_AF=0.598442;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=19464;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.6421;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175092840;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2667,1739;ESP6500_AA_AGE=612.2+/-391.9;ESP6500_AA_GTC=799,1069,335;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=32;ESP6500_EA_AC=5429,3171;ESP6500_EA_AGE=624.8+/-397.6;ESP6500_EA_GTC=1733,1963,604;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:intron;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175123704;ESP6500_GTC=2532,3032,939;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.2914+41T>C;ESP6500_MAF=36.8721,39.4689,37.7518;ESP6500_TAC=8096,4910	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1132,0,1293
chr1	175128213	rs7547567	C	T	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.089;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.401;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-1.831;SOR=1.536;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7547567;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|14/18|c.3178+49C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3339;p3_1000G_AF=0.666733;p3_1000G_AFR_AF=0.8116;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=20666;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175097349;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3418,988;ESP6500_AA_AGE=369.1+/-318.9;ESP6500_AA_GTC=1318,782,103;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=5617,2983;ESP6500_EA_AGE=458.8+/-364.7;ESP6500_EA_GTC=1844,1929,527;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:intron;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175128213;ESP6500_GTC=3162,2711,630;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.3178+49C>T;ESP6500_MAF=34.686,22.424,30.5321;ESP6500_TAC=9035,3971	GT:AD:DP:GQ:PL	0/1:16,18:34:99:540,0,402
chr1	175135654	rs4651323	T	C	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.49;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.709;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4651323;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|15/18|c.3331-191T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1398;p3_1000G_AF=0.279153;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=19809;p3_1000G_EAS_AF=0.3899;p3_1000G_EUR_AF=0.2008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175104790;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,5:17:99:0|1:175135654_T_C:174,0,791
chr1	175135660	rs4651324	G	T	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.5;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4651324;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|15/18|c.3331-185G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4208;p3_1000G_AF=0.840256;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=19758;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.8588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175104796;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,5:17:99:0|1:175135654_T_C:174,0,791
chr1	175136744	rs2072037	G	A	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.478;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.917;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072037;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|16/18|c.3428-77G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3356;p3_1000G_AF=0.670128;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=22382;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.7813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175105880;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:178,0,168
chr1	175136806	rs4650703	G	A	1084.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.32;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4650703;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|16/18|c.3428-15G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4947;p3_1000G_AF=0.987819;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=20833;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9583;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175105942;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4364,42;ESP6500_AA_AGE=43.1+/-76.7;ESP6500_AA_GTC=2161,42,0;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=54;ESP6500_EA_AC=8296,304;ESP6500_EA_AGE=110.8+/-171.2;ESP6500_EA_GTC=4002,292,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:intron;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175136806;ESP6500_GTC=6163,334,6;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.3428-15G>A;ESP6500_MAF=3.5349,0.9532,2.6603;ESP6500_TAC=12660,346	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1113,111,0
chr1	175144442	rs10912897	T	C	2155.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=0.814;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10912897;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|TNN|TNN|transcript|NM_022093.1|protein_coding|18/19|c.3651T>C|p.Asn1217Asn|3764/5008|3651/3900|1217/1299||;p3_1000G_AA=C|||;p3_1000G_AC=4938;p3_1000G_AF=0.986022;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=23378;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175113578;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4364,42;ESP6500_AA_AGE=43.1+/-76.7;ESP6500_AA_GTC=2161,42,0;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=-6.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=138;ESP6500_EA_AC=8269,331;ESP6500_EA_AGE=116.1+/-175.8;ESP6500_EA_GTC=3976,317,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:coding-synonymous;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175144442;ESP6500_GTC=6137,359,7;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.3651T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022093.1:p.(N1217);ESP6500_MAF=3.8488,0.9532,2.8679;ESP6500_TAC=12633,373	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2184,204,0
chr1	175147116	rs4651335	C	G	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.353;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=4.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.311;SOR=0.111;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4651335;dbSNPBuildID=111;ANN=G|3_prime_UTR_variant|MODIFIER|TNN|TNN|transcript|NM_022093.1|protein_coding|19/19|c.*45C>G|||||45|;p3_1000G_AA=G|||;p3_1000G_AC=4262;p3_1000G_AF=0.851038;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=15263;p3_1000G_EAS_AF=0.7331;p3_1000G_EUR_AF=0.8459;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175116252;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4244,162;ESP6500_AA_AGE=103.8+/-142.4;ESP6500_AA_GTC=2043,158,2;ESP6500_CDS_SIZES=NM_022093.1:3900;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=22;ESP6500_EA_AC=7304,1296;ESP6500_EA_AGE=245.4+/-274.3;ESP6500_EA_GTC=3092,1120,88;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022093.1:utr-3;ESP6500_GL=TNN;ESP6500_GRCh38_POSITION=1:175147116;ESP6500_GTC=5135,1278,90;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_022093.1:c.*45C>G;ESP6500_MAF=15.0698,3.6768,11.2102;ESP6500_TAC=11548,1458	GT:AD:DP:GQ:PL	0/1:14,15:29:99:442,0,485
chr1	175160555	rs2269650	G	T	1078.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.905;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=2.953;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.934;SOR=0.4;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2269650;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|KIAA0040|KIAA0040|transcript|NM_001162893.1|protein_coding|5/5|c.*159C>A|||||159|,T|3_prime_UTR_variant|MODIFIER|KIAA0040|KIAA0040|transcript|NM_001162895.1|protein_coding|3/3|c.*159C>A|||||159|,T|3_prime_UTR_variant|MODIFIER|KIAA0040|KIAA0040|transcript|NM_001319231.1|protein_coding|5/5|c.*159C>A|||||159|,T|3_prime_UTR_variant|MODIFIER|KIAA0040|KIAA0040|transcript|NM_014656.2|protein_coding|4/4|c.*159C>A|||||159|,T|3_prime_UTR_variant|MODIFIER|KIAA0040|KIAA0040|transcript|NM_001162894.1|protein_coding|4/4|c.*159C>A|||||159|,T|3_prime_UTR_variant|MODIFIER|KIAA0040|KIAA0040|transcript|NM_001319230.1|protein_coding|3/3|c.*159C>A|||||159|;p3_1000G_AA=G|||;p3_1000G_AC=2129;p3_1000G_AF=0.42512;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=22868;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.3559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175129691;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=447,937;ESP6500_AA_GTC=68,311,313;ESP6500_CDS_SIZES=NM_014656.2:300,NM_001162895.1:300,NM_001162894.1:300,NM_001162893.1:300;ESP6500_CG=4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=190;ESP6500_EA_AC=1151,2031;ESP6500_EA_GTC=211,729,651;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014656.2:utr-3,NM_001162895.1:utr-3,NM_001162894.1:utr-3,NM_001162893.1:utr-3;ESP6500_GL=KIAA0040;ESP6500_GRCh38_POSITION=1:175160555;ESP6500_GTC=279,1040,964;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_014656.2:c.*159C>A,NM_001162895.1:c.*159C>A,NM_001162894.1:c.*159C>A,NM_001162893.1:c.*159C>A;ESP6500_MAF=36.1722,32.2977,34.9978;ESP6500_TAC=1598,2968	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1107,0,1487
chr1	175160788	rs754046354;rs774012991	C	CCTT	255.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.661;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.724;SOR=0.754;INS;HET;VARTYPE=INS;dbSNPBuildID=144,144;ANN=CCTT|conservative_inframe_insertion|MODERATE|KIAA0040|KIAA0040|transcript|NM_001162893.1|protein_coding|5/5|c.223_225dupAAG|p.Lys75dup|919/4721|225/300|75/99||,CCTT|conservative_inframe_insertion|MODERATE|KIAA0040|KIAA0040|transcript|NM_001162895.1|protein_coding|3/3|c.223_225dupAAG|p.Lys75dup|708/4510|225/300|75/99||,CCTT|conservative_inframe_insertion|MODERATE|KIAA0040|KIAA0040|transcript|NM_001319231.1|protein_coding|5/5|c.223_225dupAAG|p.Lys75dup|857/4659|225/300|75/99||,CCTT|conservative_inframe_insertion|MODERATE|KIAA0040|KIAA0040|transcript|NM_014656.2|protein_coding|4/4|c.223_225dupAAG|p.Lys75dup|782/4584|225/300|75/99||,CCTT|conservative_inframe_insertion|MODERATE|KIAA0040|KIAA0040|transcript|NM_001162894.1|protein_coding|4/4|c.223_225dupAAG|p.Lys75dup|842/4644|225/300|75/99||,CCTT|conservative_inframe_insertion|MODERATE|KIAA0040|KIAA0040|transcript|NM_001319230.1|protein_coding|3/3|c.223_225dupAAG|p.Lys75dup|768/4570|225/300|75/99||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,8:22:99:0|1:175160788_C_CCTT:293,0,561
chr1	175160810	rs2072035	C	T	557.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.435;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=-0.409;SOR=1.276;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072035;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|KIAA0040|KIAA0040|transcript|NM_001162893.1|protein_coding|5/5|c.204G>A|p.Lys68Lys|898/4721|204/300|68/99||,T|synonymous_variant|LOW|KIAA0040|KIAA0040|transcript|NM_001162895.1|protein_coding|3/3|c.204G>A|p.Lys68Lys|687/4510|204/300|68/99||,T|synonymous_variant|LOW|KIAA0040|KIAA0040|transcript|NM_001319231.1|protein_coding|5/5|c.204G>A|p.Lys68Lys|836/4659|204/300|68/99||,T|synonymous_variant|LOW|KIAA0040|KIAA0040|transcript|NM_014656.2|protein_coding|4/4|c.204G>A|p.Lys68Lys|761/4584|204/300|68/99||,T|synonymous_variant|LOW|KIAA0040|KIAA0040|transcript|NM_001162894.1|protein_coding|4/4|c.204G>A|p.Lys68Lys|821/4644|204/300|68/99||,T|synonymous_variant|LOW|KIAA0040|KIAA0040|transcript|NM_001319230.1|protein_coding|3/3|c.204G>A|p.Lys68Lys|747/4570|204/300|68/99||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,20:32:99:1|0:175160788_C_CCTT:586,0,426
chr1	175324288	rs2213635	T	C	723.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2213635;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|22/22|c.3957+68A>G||||||,C|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|22/22|c.2958+68A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3837;p3_1000G_AF=0.766174;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=21763;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.7197;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175293424;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:752,60,0
chr1	175330165	rs2027867	T	C	1570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2027867;dbSNPBuildID=94;ANN=C|synonymous_variant|LOW|TNR|TNR|transcript|NM_003285.2|protein_coding|21/23|c.3702A>G|p.Gln1234Gln|4257/5190|3702/4077|1234/1358||,C|synonymous_variant|LOW|TNR|TNR|transcript|NM_001328635.1|protein_coding|21/23|c.2703A>G|p.Gln901Gln|4153/5086|2703/3078|901/1025||;p3_1000G_AA=C|||;p3_1000G_AC=3836;p3_1000G_AF=0.765974;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=20645;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.7187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175299301;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3552,854;ESP6500_AA_AGE=336.5+/-304.4;ESP6500_AA_GTC=1444,664,95;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=73;ESP6500_EA_AC=6216,2384;ESP6500_EA_AGE=397.3+/-345.7;ESP6500_EA_GTC=2261,1694,345;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003285.2:coding-synonymous;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175330165;ESP6500_GTC=3705,2358,440;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.3702A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003285.2:p.(Q1234);ESP6500_MAF=27.7209,19.3827,24.8962;ESP6500_TAC=9768,3238	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1599,135,0
chr1	175354310	rs2301432	A	G	437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2301432;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|18/22|c.3382+81T>C||||||,G|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|18/22|c.2383+81T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3747;p3_1000G_AF=0.748203;p3_1000G_AFR_AF=0.6861;p3_1000G_AMR_AF=0.7867;p3_1000G_AN=5008;p3_1000G_DP=21092;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175323446;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:466,33,0
chr1	175355382	rs55715761;rs386636953	GCA	G	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55715761;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|17/22|c.3249+119_3249+120delTG||||||,G|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|17/22|c.2250+119_2250+120delTG||||||;p3_1000G_AC=3397;p3_1000G_AF=0.678315;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs539140119;p3_1000G_DP=21046;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.7515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175324518;p3_1000G_GRCH37_REF=GCAA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:175355382_GCA_G:450,30,0
chr1	175355385	rs55973835	A	T	421.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55973835;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|17/22|c.3249+118T>A||||||,T|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|17/22|c.2250+118T>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=3397;p3_1000G_AF=0.678315;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=19965;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.7515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175324521;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:175355382_GCA_G:450,30,0
chr1	175355515	rs2228359	A	G	995.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228359;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|TNR|TNR|transcript|NM_003285.2|protein_coding|17/23|c.3237T>C|p.Asp1079Asp|3792/5190|3237/4077|1079/1358||,G|synonymous_variant|LOW|TNR|TNR|transcript|NM_001328635.1|protein_coding|17/23|c.2238T>C|p.Asp746Asp|3688/5086|2238/3078|746/1025||;p3_1000G_AA=G|||;p3_1000G_AC=3334;p3_1000G_AF=0.665735;p3_1000G_AFR_AF=0.5197;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=21729;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.6819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175324651;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2366,2040;ESP6500_AA_AGE=566.0+/-381.8;ESP6500_AA_GTC=629,1108,466;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=0.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=83;ESP6500_EA_AC=5899,2701;ESP6500_EA_AGE=432.9+/-357.3;ESP6500_EA_GTC=2025,1849,426;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003285.2:coding-synonymous;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175355515;ESP6500_GTC=2654,2957,892;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.3237T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003285.2:p.(D1079);ESP6500_MAF=31.407,46.3005,36.4524;ESP6500_TAC=8265,4741	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1024,99,0
chr1	175367394	rs6697701	T	C	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6697701;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|9/22|c.1964-97A>G||||||,C|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|9/22|c.965-97A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3434;p3_1000G_AF=0.685703;p3_1000G_AFR_AF=0.5794;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=22987;p3_1000G_EAS_AF=0.7976;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175336530;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:47:535,47,0
chr1	175379587	rs859427	C	T	1806.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859427;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|TNR|TNR|transcript|NM_003285.2|protein_coding|9/23|c.1928G>A|p.Arg643Lys|2483/5190|1928/4077|643/1358||,T|missense_variant|MODERATE|TNR|TNR|transcript|NM_001328635.1|protein_coding|9/23|c.929G>A|p.Arg310Lys|2379/5086|929/3078|310/1025||;p3_1000G_AA=T|||;p3_1000G_AC=3487;p3_1000G_AF=0.696286;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=20464;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.6491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175348723;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2984,1422;ESP6500_AA_AGE=464.3+/-353.8;ESP6500_AA_GTC=1010,964,229;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=2.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=89;ESP6500_EA_AC=5627,2973;ESP6500_EA_AGE=461.2+/-365.4;ESP6500_EA_GTC=1866,1895,539;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003285.2:missense;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175379587;ESP6500_GS=26;ESP6500_GTC=2876,2859,768;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.1928G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003285.2:p.(R643K);ESP6500_MAF=34.5698,32.2742,33.7921;ESP6500_PH=benign:0.0;ESP6500_TAC=8611,4395	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1835,174,0
chr1	175385992	rs859436	C	G	979.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.82;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859436;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|8/22|c.1777+40G>C||||||,G|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|8/22|c.778+40G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3266;p3_1000G_AF=0.652157;p3_1000G_AFR_AF=0.6104;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=21448;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.5726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175355128;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2817,1589;ESP6500_AA_AGE=663.0+/-401.1;ESP6500_AA_GTC=900,1017,286;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=64;ESP6500_EA_AC=5122,3478;ESP6500_EA_AGE=632.5+/-398.6;ESP6500_EA_GTC=1537,2048,715;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003285.2:intron;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175385992;ESP6500_GTC=2437,3065,1001;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.1777+40G>C;ESP6500_MAF=40.4419,36.0645,38.9589;ESP6500_TAC=7939,5067	GT:AD:DP:GQ:PL	1/1:0,26:26:78:1008,78,0
chr1	175386255	rs859437	A	G	1308.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859437;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|TNR|TNR|transcript|NM_003285.2|protein_coding|8/23|c.1554T>C|p.Thr518Thr|2109/5190|1554/4077|518/1358||,G|synonymous_variant|LOW|TNR|TNR|transcript|NM_001328635.1|protein_coding|8/23|c.555T>C|p.Thr185Thr|2005/5086|555/3078|185/1025||;p3_1000G_AA=G|||;p3_1000G_AC=4171;p3_1000G_AF=0.832867;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=20533;p3_1000G_EAS_AF=0.8919;p3_1000G_EUR_AF=0.7724;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175355391;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3604,802;ESP6500_AA_AGE=311.6+/-292.2;ESP6500_AA_GTC=1482,640,81;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=-11.2;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=37;ESP6500_EA_AC=6780,1820;ESP6500_EA_AGE=324.9+/-316.7;ESP6500_EA_GTC=2682,1416,202;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003285.2:coding-synonymous;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175386255;ESP6500_GTC=4164,2056,283;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.1554T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003285.2:p.(T518);ESP6500_MAF=21.1628,18.2025,20.1599;ESP6500_TAC=10384,2622	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1337,108,0
chr1	175396527	rs859446	G	A	784.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859446;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|5/22|c.1240+17C>T||||||,A|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|5/22|c.241+17C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2525;p3_1000G_AF=0.504193;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=22129;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.4274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175365663;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4141;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2333,2073;ESP6500_AA_AGE=604.9+/-390.4;ESP6500_AA_GTC=631,1071,501;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=4.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=123;ESP6500_EA_AC=3721,4879;ESP6500_EA_AGE=529.8+/-381.7;ESP6500_EA_GTC=845,2031,1424;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003285.2:intron;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175396527;ESP6500_GTC=1476,3102,1925;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.1240+17C>T;ESP6500_MAF=43.2674,47.0495,46.5477;ESP6500_TAC=6054,6952	GT:AD:DP:GQ:PL	1/1:0,26:26:78:813,78,0
chr1	175406108	rs118116012	G	A	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.783;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-1.426;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs118116012;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|3/22|c.499+108C>T||||||,A|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|3/22|c.-397+108C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=30;p3_1000G_AF=0.00599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21047;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175375244;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:199,0,176
chr1	175406198	rs859400	C	T	1385.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=2.78;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859400;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|TNR|TNR|transcript|NM_003285.2|protein_coding|3/22|c.499+18G>A||||||,T|intron_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|3/22|c.-397+18G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2096;p3_1000G_AF=0.41853;p3_1000G_AFR_AF=0.4349;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=20346;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175375334;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1871,2535;ESP6500_AA_AGE=535.8+/-374.3;ESP6500_AA_GTC=394,1083,726;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=47;ESP6500_EA_AC=3103,5497;ESP6500_EA_AGE=468.7+/-367.4;ESP6500_EA_GTC=587,1929,1784;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003285.2:intron;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175406198;ESP6500_GTC=981,3012,2510;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.499+18G>A;ESP6500_MAF=36.0814,42.4648,38.2439;ESP6500_TAC=4974,8032	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1414,126,0
chr1	175406333	rs2239819	C	A	3019.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=0.848;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2239819;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|TNR|TNR|transcript|NM_003285.2|protein_coding|3/23|c.382G>T|p.Ala128Ser|937/5190|382/4077|128/1358||,A|5_prime_UTR_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|3/23|c.-514G>T|||||3113|;p3_1000G_AA=C|||;p3_1000G_AC=1438;p3_1000G_AF=0.287141;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=21685;p3_1000G_EAS_AF=0.5179;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175375469;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=582,3824;ESP6500_AA_AGE=255.8+/-260.9;ESP6500_AA_GTC=47,488,1668;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=152;ESP6500_EA_AC=2331,6269;ESP6500_EA_AGE=391.0+/-343.5;ESP6500_EA_GTC=324,1683,2293;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003285.2:missense;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175406333;ESP6500_GS=99;ESP6500_GTC=371,2171,3961;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.382G>T;ESP6500_HGVS_PROTEIN_VAR=NM_003285.2:p.(A128S);ESP6500_MAF=27.1047,13.2093,22.3974;ESP6500_PH=benign:0.01;ESP6500_TAC=2913,10093	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3048,285,0
chr1	175406547	rs859399	T	C	2322.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=0.807;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859399;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|TNR|TNR|transcript|NM_003285.2|protein_coding|3/23|c.168A>G|p.Thr56Thr|723/5190|168/4077|56/1358||,C|5_prime_UTR_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|3/23|c.-728A>G|||||3327|;p3_1000G_AA=T|||;p3_1000G_AC=3640;p3_1000G_AF=0.726837;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=21459;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.6302;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175375683;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3334,1072;ESP6500_AA_AGE=722.2+/-409.3;ESP6500_AA_GTC=1269,796,138;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=252;ESP6500_EA_AC=5523,3077;ESP6500_EA_AGE=660.6+/-401.8;ESP6500_EA_GTC=1784,1955,561;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003285.2:coding-synonymous;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175406547;ESP6500_GTC=3053,2751,699;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.168A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003285.2:p.(T56);ESP6500_MAF=35.7791,24.3305,31.9007;ESP6500_TAC=8857,4149	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2351,216,0
chr1	175406666	rs859398	T	C	1671.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.78;SOR=2.004;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859398;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|TNR|TNR|transcript|NM_003285.2|protein_coding|3/23|c.49A>G|p.Ile17Val|604/5190|49/4077|17/1358||,C|5_prime_UTR_variant|MODIFIER|TNR|TNR|transcript|NM_001328635.1|protein_coding|3/23|c.-847A>G|||||3446|;p3_1000G_AA=C|||;p3_1000G_AC=3616;p3_1000G_AF=0.722045;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=20896;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.6302;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175375802;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3263,1143;ESP6500_AA_AGE=408.2+/-334.5;ESP6500_AA_GTC=1214,835,154;ESP6500_CDS_SIZES=NM_003285.2:4077;ESP6500_CG=3.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=163;ESP6500_EA_AC=5521,3079;ESP6500_EA_AGE=471.7+/-368.2;ESP6500_EA_GTC=1782,1957,561;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003285.2:missense;ESP6500_GL=TNR;ESP6500_GRCh38_POSITION=1:175406666;ESP6500_GS=29;ESP6500_GTC=2996,2792,715;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003285.2:c.49A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003285.2:p.(I17V);ESP6500_MAF=35.8023,25.9419,32.4619;ESP6500_PH=benign:0.0;ESP6500_TAC=8784,4222	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1700,153,0
chr1	175947131	rs6674353	T	C	951.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6674353;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_022457.6|protein_coding|19/19|c.2178+64A>G||||||,C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001001740.3|protein_coding|18/18|c.2106+64A>G||||||,C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001286644.1|protein_coding|17/17|c.1458+64A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4608;p3_1000G_AF=0.920128;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=19269;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175916267;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1067,317;ESP6500_AA_GTC=406,255,31;ESP6500_CDS_SIZES=NM_022457.5:2196,NM_001001740.2:2124;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=58;ESP6500_EA_AC=3162,20;ESP6500_EA_GTC=1571,20,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022457.5:intron,NM_001001740.2:intron;ESP6500_GL=RFWD2;ESP6500_GRCh38_POSITION=1:175947131;ESP6500_GTC=1977,275,31;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022457.5:c.2178+64A>G,NM_001001740.2:c.2106+64A>G;ESP6500_MAF=0.6285,22.9046,7.3806;ESP6500_TAC=4229,337	GT:AD:DP:GQ:PL	1/1:0,31:31:93:980,93,0
chr1	175988473	rs141406666	T	C	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.18;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=1;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141406666;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_022457.6|protein_coding|16/19|c.1848-61A>G||||||,C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001001740.3|protein_coding|15/18|c.1776-61A>G||||||,C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001286644.1|protein_coding|14/17|c.1128-61A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=64;p3_1000G_AF=0.0127796;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=20417;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175957609;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:97:97,0,132
chr1	176043671	rs4233165	G	A	676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4233165;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_022457.6|protein_coding|13/19|c.1530+39C>T||||||,A|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001001740.3|protein_coding|12/18|c.1458+39C>T||||||,A|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001286644.1|protein_coding|11/17|c.810+39C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4697;p3_1000G_AF=0.937899;p3_1000G_AFR_AF=0.8048;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=16008;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176012807;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3598,808;ESP6500_AA_AGE=322.9+/-297.8;ESP6500_AA_GTC=1471,656,76;ESP6500_CDS_SIZES=NM_022457.5:2196,NM_001001740.2:2124;ESP6500_CG=5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=81;ESP6500_EA_AC=8513,85;ESP6500_EA_AGE=48.9+/-108.6;ESP6500_EA_GTC=4214,85,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022457.5:intron,NM_001001740.2:intron;ESP6500_GL=RFWD2;ESP6500_GRCh38_POSITION=1:176043671;ESP6500_GTC=5685,741,76;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022457.5:c.1530+39C>T,NM_001001740.2:c.1458+39C>T;ESP6500_MAF=0.9886,18.3386,6.8671;ESP6500_TAC=12111,893	GT:AD:DP:GQ:PL	1/1:0,22:22:66:705,66,0
chr1	176058183	rs376799670	A	AGGT	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNPBuildID=138;ANN=AGGT|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_022457.6|protein_coding|11/19|c.1278-11860_1278-11859insACC||||||,AGGT|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001001740.3|protein_coding|10/18|c.1206-11860_1206-11859insACC||||||,AGGT|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001286644.1|protein_coding|9/17|c.558-11860_558-11859insACC||||||;p3_1000G_AC=4542;p3_1000G_AF=0.906949;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=4212;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176027319;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9601;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr1	176081294	rs56720201;rs750387333	GA	G	40.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=0.328;SOR=2.494;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs56720201;dbSNPBuildID=144,129;ANN=G|splice_region_variant&intron_variant|LOW|RFWD2|RFWD2|transcript|NM_022457.6|protein_coding|10/19|c.1142-8delT||||||,G|splice_region_variant&intron_variant|LOW|RFWD2|RFWD2|transcript|NM_001001740.3|protein_coding|9/18|c.1070-8delT||||||,G|splice_region_variant&intron_variant|LOW|RFWD2|RFWD2|transcript|NM_001286644.1|protein_coding|8/17|c.422-8delT||||||	GT:AD:DP:GQ:PL	0/1:3,4:7:52:78,0,52
chr1	176133838	rs2481662	T	C	1909.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2481662;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_022457.6|protein_coding|8/19|c.968+1172A>G||||||,C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001001740.3|protein_coding|7/18|c.896+1172A>G||||||,C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001286644.1|protein_coding|6/17|c.248+1172A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1425;p3_1000G_AF=0.284545;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=20009;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.329;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176102974;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1938,192,0
chr1	176184522	rs791744	T	C	228.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs791744;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_022457.6|protein_coding|2/19|c.467+111A>G||||||,C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001001740.3|protein_coding|2/18|c.467+111A>G||||||,C|intron_variant|MODIFIER|RFWD2|RFWD2|transcript|NM_001286644.1|protein_coding|2/17|c.-57+111A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3580;p3_1000G_AF=0.714856;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=17410;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.8688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176153658;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:257,21,0
chr1	176695706	rs12138725	C	A	394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.318;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.184;SOR=0.56;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12138725;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|PAPPA2|PAPPA2|transcript|NM_021936.2|protein_coding||c.*5223C>A|||||4501|,A|intron_variant|MODIFIER|PAPPA2|PAPPA2|transcript|NM_020318.2|protein_coding|6/22|c.2625-32C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1242;p3_1000G_AF=0.248003;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=17363;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.2793;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176664842;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3538;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1122,2896;ESP6500_AA_GTC=168,786,1055;ESP6500_CDS_SIZES=NM_020318.2:5376;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=98;ESP6500_EA_AC=2027,6351;ESP6500_EA_GTC=244,1539,2406;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020318.2:intron;ESP6500_GL=PAPPA2;ESP6500_GRCh38_POSITION=1:176695706;ESP6500_GTC=412,2325,3461;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020318.2:c.2625-32C>A;ESP6500_MAF=24.1943,27.9243,25.4034;ESP6500_TAC=3149,9247	GT:AD:DP:GQ:PL	0/1:21,19:40:99:423,0,561
chr1	176699687	rs3766297	G	A	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.349;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766297;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PAPPA2|PAPPA2|transcript|NM_020318.2|protein_coding|8/22|c.3236+98G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=492;p3_1000G_AF=0.0982428;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=18992;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.0785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176668823;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:223,0,367
chr1	176702485	rs10753136	G	A	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=-0.566;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10753136;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PAPPA2|PAPPA2|transcript|NM_020318.2|protein_coding|8/22|c.3237-122G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2095;p3_1000G_AF=0.418331;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=20299;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.4374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176671621;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:49:165,0,49
chr1	176710248	rs61823018	G	T	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.448;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61823018;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|PAPPA2|PAPPA2|transcript|NM_020318.2|protein_coding|11/22|c.3651+72G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=494;p3_1000G_AF=0.0986422;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=18080;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.0785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176679384;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:173,0,238
chr1	176765620	rs3737759	C	T	534.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.08;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.44;ReadPosRankSum=-1.347;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737759;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PAPPA2|PAPPA2|transcript|NM_020318.2|protein_coding|14/22|c.4152-46C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=21002;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.3907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176734756;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1910,1962;ESP6500_AA_GTC=478,954,504;ESP6500_CDS_SIZES=NM_020318.2:5376;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=69;ESP6500_EA_AC=2922,5358;ESP6500_EA_GTC=524,1874,1742;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020318.2:intron;ESP6500_GL=PAPPA2;ESP6500_GRCh38_POSITION=1:176765620;ESP6500_GTC=1002,2828,2246;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020318.2:c.4152-46C>T;ESP6500_MAF=35.2899,49.3285,39.763;ESP6500_TAC=4832,7320	GT:AD:DP:GQ:PL	0/1:11,18:29:99:563,0,326
chr1	176876392	rs2076341	C	T	527.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.53;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.55;ReadPosRankSum=-1.71;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076341;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|21/22|c.3463+145G>A||||||,T|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|21/22|c.3463+145G>A||||||,T|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|21/21|c.3463+145G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4150;p3_1000G_AF=0.828674;p3_1000G_AFR_AF=0.8601;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=19097;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.8579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176845528;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,17:27:99:556,0,323
chr1	176888211	rs2072935	A	G	847.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.641;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072935;dbSNPBuildID=96;ANN=G|splice_region_variant&intron_variant|LOW|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|17/22|c.2941-7T>C||||||,G|splice_region_variant&intron_variant|LOW|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|17/22|c.2941-7T>C||||||,G|splice_region_variant&intron_variant|LOW|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|17/21|c.2941-7T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4152;p3_1000G_AF=0.829073;p3_1000G_AFR_AF=0.8601;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=19694;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.8588;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176857347;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3851,555;ESP6500_AA_AGE=249.0+/-256.6;ESP6500_AA_GTC=1692,467,44;ESP6500_CDS_SIZES=NM_207108.1:3651,NM_004319.1:3885;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=67;ESP6500_EA_AC=7169,1431;ESP6500_EA_AGE=275.6+/-291.8;ESP6500_EA_GTC=2988,1193,119;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207108.1:intron,NM_004319.1:intron;ESP6500_GL=ASTN1;ESP6500_GRCh38_POSITION=1:176888211;ESP6500_GTC=4680,1660,163;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207108.1:c.2941-7T>C,NM_004319.1:c.2941-7T>C;ESP6500_MAF=16.6395,12.5965,15.2699;ESP6500_TAC=11020,1986	GT:AD:DP:GQ:PL	0/1:38,33:71:99:876,0,951
chr1	176888362	rs2076338	G	A	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.181;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-1.174;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076338;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|17/22|c.2941-158C>T||||||,A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|17/22|c.2941-158C>T||||||,A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|17/21|c.2941-158C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1907;p3_1000G_AF=0.380791;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=20300;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.3569;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176857498;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:184,0,299
chr1	176894700	rs2281180	G	C	669.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.51;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.407;SOR=0.411;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2281180;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|17/23|c.2802C>G|p.His934Gln|3030/7333|2802/3885|934/1294||,C|missense_variant|MODERATE|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|17/23|c.2802C>G|p.His934Gln|3030/4221|2802/3687|934/1228||,C|missense_variant|MODERATE|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|17/22|c.2802C>G|p.His934Gln|3030/3901|2802/3651|934/1216||;p3_1000G_AA=C|||;p3_1000G_AC=4153;p3_1000G_AF=0.829273;p3_1000G_AFR_AF=0.8601;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=17439;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.8588;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176863836;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3851,555;ESP6500_AA_AGE=249.0+/-256.6;ESP6500_AA_GTC=1692,467,44;ESP6500_CDS_SIZES=NM_207108.1:3651,NM_004319.1:3885;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=96;ESP6500_EA_AC=7182,1418;ESP6500_EA_AGE=274.1+/-291.0;ESP6500_EA_GTC=2998,1186,116;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207108.1:missense,NM_004319.1:missense;ESP6500_GL=ASTN1;ESP6500_GRCh38_POSITION=1:176894700;ESP6500_GS=24,24;ESP6500_GTC=4690,1653,160;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_207108.1:c.2802C>G,NM_004319.1:c.2802C>G;ESP6500_HGVS_PROTEIN_VAR=NM_207108.1:p.(H934Q),NM_004319.1:p.(H934Q);ESP6500_MAF=16.4884,12.5965,15.1699;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11033,1973	GT:AD:DP:GQ:PL	0/1:28,27:55:99:698,0,827
chr1	176894731	rs2228956	T	C	750.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.441;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228956;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|17/23|c.2771A>G|p.His924Arg|2999/7333|2771/3885|924/1294||,C|missense_variant|MODERATE|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|17/23|c.2771A>G|p.His924Arg|2999/4221|2771/3687|924/1228||,C|missense_variant|MODERATE|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|17/22|c.2771A>G|p.His924Arg|2999/3901|2771/3651|924/1216||;p3_1000G_AA=C|||;p3_1000G_AC=4151;p3_1000G_AF=0.828874;p3_1000G_AFR_AF=0.8593;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=18765;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.8588;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176863867;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3851,555;ESP6500_AA_AGE=249.0+/-256.6;ESP6500_AA_GTC=1692,467,44;ESP6500_CDS_SIZES=NM_207108.1:3651,NM_004319.1:3885;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=102;ESP6500_EA_AC=7169,1431;ESP6500_EA_AGE=275.8+/-292.0;ESP6500_EA_GTC=2988,1193,119;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207108.1:missense,NM_004319.1:missense;ESP6500_GL=ASTN1;ESP6500_GRCh38_POSITION=1:176894731;ESP6500_GS=29,29;ESP6500_GTC=4680,1660,163;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207108.1:c.2771A>G,NM_004319.1:c.2771A>G;ESP6500_HGVS_PROTEIN_VAR=NM_207108.1:p.(H924R),NM_004319.1:p.(H924R);ESP6500_MAF=16.6395,12.5965,15.2699;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11020,1986	GT:AD:DP:GQ:PL	0/1:34,31:65:99:779,0,809
chr1	176944079	rs35968661;rs868002876	AT	A	42.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=0.025;SOR=0.76;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35968661;dbSNPBuildID=126,147;ANN=A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|13/22|c.2250-62delA||||||,A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|13/22|c.2250-62delA||||||,A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|13/21|c.2250-62delA||||||	GT:AD:DP:GQ:PL	0/1:19,7:26:80:80,0,430
chr1	177023417	rs172917	A	G	694.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.278;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0.907;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.041;SOR=0.826;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs172917;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|7/23|c.1425T>C|p.Cys475Cys|1653/7333|1425/3885|475/1294||,G|synonymous_variant|LOW|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|7/23|c.1425T>C|p.Cys475Cys|1653/4221|1425/3687|475/1228||,G|synonymous_variant|LOW|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|7/22|c.1425T>C|p.Cys475Cys|1653/3901|1425/3651|475/1216||;p3_1000G_AA=G|||;p3_1000G_AC=2575;p3_1000G_AF=0.514177;p3_1000G_AFR_AF=0.792;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=16580;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.5895;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176992553;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3227,1177;ESP6500_AA_GTC=1181,865,156;ESP6500_CDS_SIZES=NM_207108.1:3651,NM_004319.1:3885;ESP6500_CG=-2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=24;ESP6500_EA_AC=5122,3478;ESP6500_EA_GTC=1535,2052,713;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207108.1:coding-synonymous,NM_004319.1:coding-synonymous;ESP6500_GL=ASTN1;ESP6500_GRCh38_POSITION=1:177023417;ESP6500_GTC=2716,2917,869;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207108.1:c.1425T>C,NM_004319.1:c.1425T>C;ESP6500_HGVS_PROTEIN_VAR=NM_207108.1:p.(C475),NM_004319.1:p.(C475);ESP6500_MAF=40.4419,26.7257,35.7967;ESP6500_TAC=8349,4655	GT:AD:DP:GQ:PL	0/1:38,30:68:99:723,0,1020
chr1	177029794	rs56297461	C	T	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.678;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=1.67;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56297461;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|MIR488|MIR488|transcript|NR_030163.1|pseudogene||n.-349G>A|||||349|,T|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|4/22|c.1013-53G>A||||||,T|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|4/22|c.1013-53G>A||||||,T|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|4/21|c.1013-53G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=708;p3_1000G_AF=0.141374;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=19847;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.1461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176998930;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,11:18:99:323,0,212
chr1	177030781	rs12568439	G	A	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.466;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.564;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12568439;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|MIR488|MIR488|transcript|NR_030163.1|pseudogene||n.-1336C>T|||||1336|,A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|4/22|c.1012+25C>T||||||,A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|4/22|c.1012+25C>T||||||,A|intron_variant|MODIFIER|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|4/21|c.1012+25C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=17903;p3_1000G_EAS_AF=0.256;p3_1000G_EUR_AF=0.1471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176999917;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=228,4178;ESP6500_AA_AGE=805.8+/-415.8;ESP6500_AA_GTC=3,222,1978;ESP6500_CDS_SIZES=NM_207108.1:3651,NM_004319.1:3885;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=110;ESP6500_EA_AC=1433,7167;ESP6500_EA_AGE=751.6+/-407.4;ESP6500_EA_GTC=119,1195,2986;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207108.1:intron,NM_004319.1:intron;ESP6500_GL=ASTN1;ESP6500_GRCh38_POSITION=1:177030781;ESP6500_GTC=122,1417,4964;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207108.1:c.1012+25C>T,NM_004319.1:c.1012+25C>T;ESP6500_MAF=16.6628,5.1748,12.771;ESP6500_TAC=1661,11345	GT:AD:DP:GQ:PL	0/1:16,17:33:99:396,0,398
chr1	177032760	rs2076069	C	G	838.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=6.249;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.351;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076069;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|ASTN1|ASTN1|transcript|NM_004319.2|protein_coding|3/23|c.561G>C|p.Pro187Pro|789/7333|561/3885|187/1294||,G|synonymous_variant|LOW|ASTN1|ASTN1|transcript|NM_001286164.1|protein_coding|3/23|c.561G>C|p.Pro187Pro|789/4221|561/3687|187/1228||,G|synonymous_variant|LOW|ASTN1|ASTN1|transcript|NM_207108.2|protein_coding|3/22|c.561G>C|p.Pro187Pro|789/3901|561/3651|187/1216||,G|upstream_gene_variant|MODIFIER|MIR488|MIR488|transcript|NR_030163.1|pseudogene||n.-3315G>C|||||3315|;p3_1000G_AA=G|||;p3_1000G_AC=751;p3_1000G_AF=0.14996;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=17437;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.1471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177001896;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=228,4178;ESP6500_AA_AGE=789.4+/-415.0;ESP6500_AA_GTC=3,222,1978;ESP6500_CDS_SIZES=NM_207108.1:3651,NM_004319.1:3885;ESP6500_CG=-1.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=38;ESP6500_EA_AC=1418,7182;ESP6500_EA_AGE=736.8+/-407.0;ESP6500_EA_GTC=119,1180,3001;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207108.1:coding-synonymous,NM_004319.1:coding-synonymous;ESP6500_GL=ASTN1;ESP6500_GRCh38_POSITION=1:177032760;ESP6500_GTC=122,1402,4979;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_207108.1:c.561G>C,NM_004319.1:c.561G>C;ESP6500_HGVS_PROTEIN_VAR=NM_207108.1:p.(P187),NM_004319.1:p.(P187);ESP6500_MAF=16.4884,5.1748,12.6557;ESP6500_TAC=1646,11360	GT:AD:DP:GQ:PL	0/1:52,32:84:99:867,0,1473
chr1	177937522	rs6676302	G	A	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.623;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.771;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6676302;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|18/25|c.2204-9C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1211;p3_1000G_AF=0.241813;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=21089;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177906657;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=940,2936;ESP6500_AA_GTC=102,736,1100;ESP6500_CDS_SIZES=NM_033127.2:3183;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=11;ESP6500_EA_AC=1638,6636;ESP6500_EA_GTC=178,1282,2677;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033127.2:intron;ESP6500_GL=SEC16B;ESP6500_GRCh38_POSITION=1:177937522;ESP6500_GTC=280,2018,3777;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033127.2:c.2204-9C>T;ESP6500_MAF=19.797,24.2518,21.2181;ESP6500_TAC=2578,9572	GT:AD:DP:GQ:PL	0/1:15,10:25:99:220,0,433
chr1	177941761	rs10913466	A	G	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.69;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.586;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10913466;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|16/25|c.2022+139T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=589;p3_1000G_AF=0.117612;p3_1000G_AFR_AF=0.1982;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=18507;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.0209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177910896;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:216,0,250
chr1	177946339	rs842192	A	C	1248.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=2.012;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs842192;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|14/25|c.1775+81T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3964;p3_1000G_AF=0.791534;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=19536;p3_1000G_EAS_AF=0.8224;p3_1000G_EUR_AF=0.8618;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177915474;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1277,111,0
chr1	177947755	rs750406563	A	AAGGGACAGGGAGGGGAGGTGAGGGG	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNPBuildID=144;ANN=AAGGGACAGGGAGGGGAGGTGAGGGG|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|13/25|c.1663+69_1663+70insCCCCTCACCTCCCCTCCCTGTCCCT||||||	GT:AD:DP:GQ:PL	1/1:0,1:1:9:135,9,0
chr1	177960419	rs10913472	C	T	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.378;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.463;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10913472;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|7/25|c.937-16G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2335;p3_1000G_AF=0.466254;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=18444;p3_1000G_EAS_AF=0.5704;p3_1000G_EUR_AF=0.4632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177929554;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1056,2630;ESP6500_AA_GTC=156,744,943;ESP6500_CDS_SIZES=NM_033127.2:3183;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=42;ESP6500_EA_AC=4017,4163;ESP6500_EA_GTC=979,2059,1052;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033127.2:intron;ESP6500_GL=SEC16B;ESP6500_GRCh38_POSITION=1:177960419;ESP6500_GTC=1135,2803,1995;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033127.2:c.937-16G>A;ESP6500_MAF=49.1076,28.6489,42.7524;ESP6500_TAC=5073,6793	GT:AD:DP:GQ:PL	0/1:11,10:21:99:224,0,254
chr1	177960852	rs12040910	T	C	1075.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.993;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=2.058;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.859;SOR=1.026;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12040910;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|7/26|c.875A>G|p.His292Arg|965/4024|875/3183|292/1060||;p3_1000G_AA=C|||;p3_1000G_AC=4056;p3_1000G_AF=0.809904;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=20187;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.7485;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177929987;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3719,557;ESP6500_AA_GTC=1617,485,36;ESP6500_CDS_SIZES=NM_033127.2:3183;ESP6500_CG=2.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=61;ESP6500_EA_AC=6562,1930;ESP6500_EA_GTC=2546,1470,230;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033127.2:missense;ESP6500_GL=SEC16B;ESP6500_GRCh38_POSITION=1:177960852;ESP6500_GS=29;ESP6500_GTC=4163,1955,266;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033127.2:c.875A>G;ESP6500_HGVS_PROTEIN_VAR=NM_033127.2:p.(H292R);ESP6500_MAF=22.7273,13.0262,19.4784;ESP6500_PH=benign:0.0;ESP6500_TAC=10281,2487	GT:AD:DP:GQ:PL	0/1:28,41:69:99:1104,0,654
chr1	177961507	rs945640	G	A	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.648;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-1.688;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs945640;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|6/25|c.787+83C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2228;p3_1000G_AF=0.444888;p3_1000G_AFR_AF=0.6142;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=20702;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177930642;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:207,0,264
chr1	177961759	rs945641	C	T	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.652;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=0.722;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs945641;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|5/25|c.643-25G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4002;p3_1000G_AF=0.799121;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=20886;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177930894;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.774;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3316,492;ESP6500_AA_GTC=1440,436,28;ESP6500_CDS_SIZES=NM_033127.2:3183;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=35;ESP6500_EA_AC=6218,2016;ESP6500_EA_GTC=2363,1492,262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033127.2:intron;ESP6500_GL=SEC16B;ESP6500_GRCh38_POSITION=1:177961759;ESP6500_GTC=3803,1928,290;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033127.2:c.643-25G>A;ESP6500_MAF=24.4838,12.9202,20.8271;ESP6500_TAC=9534,2508	GT:AD:DP:GQ:PL	0/1:7,10:17:99:293,0,215
chr1	177964308	rs3813651	G	A	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.556;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.06;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813651;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|4/25|c.534-29C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2049;p3_1000G_AF=0.409145;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=18817;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177933443;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1737,2325;ESP6500_AA_GTC=378,981,672;ESP6500_CDS_SIZES=NM_033127.2:3183;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=21;ESP6500_EA_AC=3774,4618;ESP6500_EA_GTC=863,2048,1285;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033127.2:intron;ESP6500_GL=SEC16B;ESP6500_GRCh38_POSITION=1:177964308;ESP6500_GTC=1241,3029,1957;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033127.2:c.534-29C>T;ESP6500_MAF=44.9714,42.7622,44.2508;ESP6500_TAC=5511,6943	GT:AD:DP:GQ:PL	0/1:14,13:27:99:345,0,361
chr1	177964370	rs3813652	C	T	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.17;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.589;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813652;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|4/25|c.534-91G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1039;p3_1000G_AF=0.207468;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=21302;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177933505;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:96:150,0,96
chr1	177964909	rs10798587	T	C	288.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.26;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.458;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10798587;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|4/25|c.533+138A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2116;p3_1000G_AF=0.422524;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=20375;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177934044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:317,0,286
chr1	177965216	rs72703030	G	T	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.335;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=2.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=-0.324;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72703030;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|3/25|c.413-49C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1021;p3_1000G_AF=0.203874;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=21592;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.2167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177934351;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=309,3401;ESP6500_AA_GTC=10,289,1556;ESP6500_CDS_SIZES=NM_033127.2:3183;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=29;ESP6500_EA_AC=1934,6256;ESP6500_EA_GTC=232,1470,2393;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033127.2:intron;ESP6500_GL=SEC16B;ESP6500_GRCh38_POSITION=1:177965216;ESP6500_GTC=242,1759,3949;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_033127.2:c.413-49C>A;ESP6500_MAF=23.6142,8.3288,18.8487;ESP6500_TAC=2243,9657	GT:AD:DP:GQ:PL	0/1:12,19:31:99:557,0,383
chr1	177965915	rs1889981	T	A	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.697;SOR=0.884;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1889981;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|3/26|c.390A>T|p.Pro130Pro|480/4024|390/3183|130/1060||;p3_1000G_AA=T|||;p3_1000G_AC=1039;p3_1000G_AF=0.207468;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=18014;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.2167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177935050;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=377,3337;ESP6500_AA_GTC=17,343,1497;ESP6500_CDS_SIZES=NM_033127.2:3183;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=85;ESP6500_EA_AC=1938,6316;ESP6500_EA_GTC=231,1476,2420;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033127.2:coding-synonymous;ESP6500_GL=SEC16B;ESP6500_GRCh38_POSITION=1:177965915;ESP6500_GTC=248,1819,3917;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_033127.2:c.390A>T;ESP6500_HGVS_PROTEIN_VAR=NM_033127.2:p.(P130);ESP6500_MAF=23.4795,10.1508,19.3432;ESP6500_TAC=2315,9653	GT:AD:DP:GQ:PL	0/1:21,21:42:99:581,0,519
chr1	177966068	rs954502	A	G	586.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.48;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.182;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.18;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs954502;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|2/25|c.300-63T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2064;p3_1000G_AF=0.412141;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=16721;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177935203;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,22:47:99:615,0,597
chr1	177966140	rs1415085	A	G	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.78;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.492;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1415085;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SEC16B|SEC16B|transcript|NM_033127.2|protein_coding|2/25|c.300-135T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4068;p3_1000G_AF=0.8123;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=16596;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.7416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177935275;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:225,0,293
chr1	178094416	rs316255	A	C	142.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs316255;dbSNPBuildID=79;ANN=C|5_prime_UTR_variant|MODIFIER|RASAL2|RASAL2|transcript|NM_170692.2|protein_coding|1/18|c.-77A>C|||||77|,C|upstream_gene_variant|MODIFIER|RASAL2-AS1|RASAL2-AS1|transcript|NR_027982.1|pseudogene||n.-423T>G|||||423|;p3_1000G_AA=C|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=9877;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178063551;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:170,12,0
chr1	178094621	rs73049352	C	T	343.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.47;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.267;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-0.148;SOR=1.015;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73049352;dbSNPBuildID=130;ANN=T|synonymous_variant|LOW|RASAL2|RASAL2|transcript|NM_170692.2|protein_coding|1/18|c.129C>T|p.Ala43Ala|893/10881|129/3843|43/1280||,T|upstream_gene_variant|MODIFIER|RASAL2-AS1|RASAL2-AS1|transcript|NR_027982.1|pseudogene||n.-628G>A|||||628|;p3_1000G_AA=C|||;p3_1000G_AC=292;p3_1000G_AF=0.0583067;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=14980;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178063756;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=144,4262;ESP6500_AA_AGE=97.6+/-136.3;ESP6500_AA_GTC=4,136,2063;ESP6500_CDS_SIZES=NM_170692.2:3843;ESP6500_CG=-1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=34;ESP6500_EA_AC=159,8441;ESP6500_EA_AGE=72.9+/-135.5;ESP6500_EA_GTC=2,155,4143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170692.2:coding-synonymous;ESP6500_GL=RASAL2;ESP6500_GRCh38_POSITION=1:178094621;ESP6500_GTC=6,291,6206;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_170692.2:c.129C>T;ESP6500_HGVS_PROTEIN_VAR=NM_170692.2:p.(A43);ESP6500_MAF=1.8488,3.2683,2.3297;ESP6500_TAC=303,12703	GT:AD:DP:GQ:PL	0/1:25,15:40:99:372,0,557
chr1	178467543	rs10913556	C	T	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.678;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.237;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10913556;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|RASAL2|RASAL2|transcript|NM_170692.2|protein_coding|17/17|c.3678+122C>T||||||,T|intron_variant|MODIFIER|RASAL2|RASAL2|transcript|NM_004841.3|protein_coding|15/15|c.3255+122C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1562;p3_1000G_AF=0.311901;p3_1000G_AFR_AF=0.68;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=23402;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.16;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178436678;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:201,0,371
chr1	178513406	rs192722794	G	T	165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.402;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.301;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=135;ANN=T|intron_variant|MODIFIER|TEX35|TEX35|transcript|NM_032126.4|protein_coding|1/8|c.39+179G>T||||||,T|intron_variant|MODIFIER|TEX35|TEX35|transcript|NM_001170723.1|protein_coding|1/8|c.39+179G>T||||||,T|intron_variant|MODIFIER|TEX35|TEX35|transcript|NM_001170722.1|protein_coding|1/8|c.63+155G>T||||||,T|intron_variant|MODIFIER|TEX35|TEX35|transcript|NM_001170724.1|protein_coding|1/8|c.39+179G>T||||||	GT:AD:DP:GQ:PL	0/1:4,7:11:98:194,0,98
chr1	178521514	rs117268938	C	T	1425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs117268938;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|TEX35|TEX35|transcript|NM_032126.4|protein_coding|8/8|c.586+250C>T||||||,T|intron_variant|MODIFIER|TEX35|TEX35|transcript|NM_001170723.1|protein_coding|8/8|c.587-158C>T||||||,T|intron_variant|MODIFIER|TEX35|TEX35|transcript|NM_001170722.1|protein_coding|8/8|c.610+250C>T||||||,T|intron_variant|MODIFIER|TEX35|TEX35|transcript|NM_001170724.1|protein_coding|8/8|c.586+250C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=133;p3_1000G_AF=0.0265575;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=18051;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178490649;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1454,132,0
chr1	178776663	rs35196749;rs547760020	CT	C	33.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=-0.842;SOR=0.105;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35196749,rs11323887;dbSNPBuildID=126,142;ANN=C|splice_region_variant&intron_variant|LOW|RALGPS2|RALGPS2|transcript|NM_152663.4|protein_coding|1/19|c.-83-5delT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|RALGPS2|RALGPS2|transcript|NM_001286247.1|protein_coding|1/18|c.-83-5delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,4:6:35:71,0,35
chr1	178885027	rs6425503	C	T	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6425503;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RALGPS2|RALGPS2|transcript|NM_152663.4|protein_coding|11/19|c.905-49C>T||||||,T|intron_variant|MODIFIER|RALGPS2|RALGPS2|transcript|NM_001286247.1|protein_coding|11/18|c.905-49C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3028;p3_1000G_AF=0.604633;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=17398;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.5835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178854162;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3383,1023;ESP6500_AA_GTC=1308,767,128;ESP6500_CDS_SIZES=NM_152663.3:1752;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=22;ESP6500_EA_AC=4975,3625;ESP6500_EA_GTC=1438,2099,763;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152663.3:intron;ESP6500_GL=RALGPS2;ESP6500_GRCh38_POSITION=1:178885027;ESP6500_GTC=2746,2866,891;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152663.3:c.905-49C>T;ESP6500_MAF=42.1512,23.2183,35.7374;ESP6500_TAC=8358,4648	GT:AD:DP:GQ:PL	0/1:2,2:4:62:62,0,70
chr1	179043812	rs72707294	C	G	366.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72707294;dbSNPBuildID=130;ANN=G|5_prime_UTR_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_001324310.1|protein_coding|2/8|c.-36C>G|||||36|,G|5_prime_UTR_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_014864.3|protein_coding|2/8|c.-36C>G|||||36|,G|5_prime_UTR_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_001324311.1|protein_coding|2/8|c.-36C>G|||||36|;p3_1000G_AA=C|||;p3_1000G_AC=689;p3_1000G_AF=0.13758;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=20333;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179012947;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=367,4039;ESP6500_AA_AGE=186.0+/-213.0;ESP6500_AA_GTC=14,339,1850;ESP6500_CDS_SIZES=NM_014864.3:1230;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=60;ESP6500_EA_AC=1361,7239;ESP6500_EA_AGE=263.7+/-285.1;ESP6500_EA_GTC=110,1141,3049;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014864.3:utr-5;ESP6500_GL=FAM20B;ESP6500_GRCh38_POSITION=1:179043812;ESP6500_GTC=124,1480,4899;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014864.3:c.-36C>G;ESP6500_MAF=15.8256,8.3296,13.2862;ESP6500_TAC=1728,11278	GT:AD:DP:GQ:PL	1/1:0,11:11:33:395,33,0
chr1	179054466	rs2147769	G	T	405.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2147769;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_001324310.1|protein_coding|3/7|c.465-63G>T||||||,T|intron_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_014864.3|protein_coding|3/7|c.465-63G>T||||||,T|intron_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_001324311.1|protein_coding|3/7|c.465-63G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=725;p3_1000G_AF=0.144768;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=14867;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179023601;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:434,39,0
chr1	179071876	rs3820163	A	G	1313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.75;SOR=5.549;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820163;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_001324310.1|protein_coding|7/7|c.999-37A>G||||||,G|intron_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_014864.3|protein_coding|7/7|c.999-37A>G||||||,G|intron_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_001324311.1|protein_coding|7/7|c.999-37A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3459;p3_1000G_AF=0.690695;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=20601;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179041011;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3840,566;ESP6500_AA_AGE=236.5+/-248.6;ESP6500_AA_GTC=1678,484,41;ESP6500_CDS_SIZES=NM_014864.3:1230;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=64;ESP6500_EA_AC=5488,3112;ESP6500_EA_AGE=454.6+/-363.5;ESP6500_EA_GTC=1751,1986,563;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014864.3:intron;ESP6500_GL=FAM20B;ESP6500_GRCh38_POSITION=1:179071876;ESP6500_GTC=3429,2470,604;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014864.3:c.999-37A>G;ESP6500_MAF=36.186,12.8461,28.2793;ESP6500_TAC=9328,3678	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1342,96,0
chr1	179072263	rs2025584	A	G	425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2025584;dbSNPBuildID=94;ANN=G|3_prime_UTR_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_001324310.1|protein_coding|8/8|c.*119A>G|||||119|,G|3_prime_UTR_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_014864.3|protein_coding|8/8|c.*119A>G|||||119|,G|3_prime_UTR_variant|MODIFIER|FAM20B|FAM20B|transcript|NM_001324311.1|protein_coding|8/8|c.*119A>G|||||119|;p3_1000G_AA=G|||;p3_1000G_AC=3461;p3_1000G_AF=0.691094;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=21582;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179041398;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:454,36,0
chr1	179082165	rs2296377	T	C	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.026;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296377;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|TOR3A|TOR3A|transcript|NM_022371.3|protein_coding|1/6|c.37T>C|p.Phe13Leu|189/2122|37/1194|13/397||;p3_1000G_AA=C|||;p3_1000G_AC=3842;p3_1000G_AF=0.767173;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=12722;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.7117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179051300;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3262,174;ESP6500_AA_GTC=1547,168,3;ESP6500_CDS_SIZES=NM_022371.3:1194;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=3;ESP6500_EA_AC=5365,1739;ESP6500_EA_GTC=2051,1263,238;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022371.3:missense;ESP6500_GL=TOR3A;ESP6500_GRCh38_POSITION=1:179082165;ESP6500_GS=22;ESP6500_GTC=3598,1431,241;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022371.3:c.37T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022371.3:p.(F13L);ESP6500_MAF=24.4792,5.064,18.1499;ESP6500_PH=benign:0.0;ESP6500_TAC=8627,1913	GT:AD:DP:GQ:PL	0/1:6,7:13:99:222,0,184
chr1	179085557	rs912758	T	G	1136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.655;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-0.557;SOR=0.556;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs912758;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|TOR3A|TOR3A|transcript|NM_022371.3|protein_coding|2/5|c.374-71T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3427;p3_1000G_AF=0.684305;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=18302;p3_1000G_EAS_AF=0.6091;p3_1000G_EUR_AF=0.6332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179054692;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1165,0,794
chr1	179085885	rs2296376	C	T	653.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.151;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=6.747;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-1.157;SOR=0.157;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296376;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TOR3A|TOR3A|transcript|NM_022371.3|protein_coding|3/6|c.631C>T|p.Leu211Leu|783/2122|631/1194|211/397||;p3_1000G_AA=C|||;p3_1000G_AC=663;p3_1000G_AF=0.132388;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=21673;p3_1000G_EAS_AF=0.255;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179055020;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=466,3940;ESP6500_AA_AGE=217.8+/-236.0;ESP6500_AA_GTC=21,424,1758;ESP6500_CDS_SIZES=NM_022371.3:1194;ESP6500_CG=-0.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=1061,7539;ESP6500_EA_AGE=220.1+/-257.9;ESP6500_EA_GTC=61,939,3300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022371.3:coding-synonymous;ESP6500_GL=TOR3A;ESP6500_GRCh38_POSITION=1:179085885;ESP6500_GTC=82,1363,5058;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022371.3:c.631C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022371.3:p.(L211);ESP6500_MAF=12.3372,10.5765,11.7407;ESP6500_TAC=1527,11479	GT:AD:DP:GQ:PL	0/1:21,24:45:99:682,0,616
chr1	179097936	rs10913690	C	A	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.831;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.957;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.891;SOR=0.877;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10913690;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|TOR3A|TOR3A|transcript|NM_022371.3|protein_coding||c.*2718C>A|||||1942|,A|downstream_gene_variant|MODIFIER|ABL2|ABL2|transcript|NM_007314.3|protein_coding||c.*9782G>T|||||1391|,A|downstream_gene_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136000.2|protein_coding||c.*9782G>T|||||1391|,A|downstream_gene_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168239.1|protein_coding||c.*9782G>T|||||1391|,A|downstream_gene_variant|MODIFIER|ABL2|ABL2|transcript|NM_005158.4|protein_coding||c.*9782G>T|||||1391|,A|downstream_gene_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168236.1|protein_coding||c.*9782G>T|||||1391|,A|downstream_gene_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168237.1|protein_coding||c.*9782G>T|||||1391|,A|downstream_gene_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168238.1|protein_coding||c.*9782G>T|||||1391|,A|intergenic_region|MODIFIER|TOR3A-ABL2|TOR3A-ABL2|intergenic_region|TOR3A-ABL2|||n.179097936C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3145;p3_1000G_AF=0.627995;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=18716;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179067071;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:272,0,180
chr1	179110980	rs376797144;rs781695907	CTT	C	126.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.18;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.36;ReadPosRankSum=-0.792;SOR=2.584;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs376797144;dbSNPBuildID=138,144;ANN=C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_007314.3|protein_coding|10/11|c.1652-527_1652-526delAA||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136000.2|protein_coding|10/12|c.1607-527_1607-526delAA||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168239.1|protein_coding|9/11|c.1544-527_1544-526delAA||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_005158.4|protein_coding|10/11|c.1607-527_1607-526delAA||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168236.1|protein_coding|9/10|c.1589-527_1589-526delAA||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168237.1|protein_coding|10/12|c.1652-527_1652-526delAA||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168238.1|protein_coding|9/11|c.1589-527_1589-526delAA||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136001.1|protein_coding|9/9|c.1589-137_1589-136delAA||||||;p3_1000G_AC=3396;p3_1000G_AF=0.678115;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=20164;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179080115;p3_1000G_GRCH37_REF=CTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,4:5:9:147,0,9
chr1	179118799	rs2171959	T	C	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.86;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.967;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2171959;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_007314.3|protein_coding|6/11|c.1046-35A>G||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136000.2|protein_coding|6/12|c.1001-35A>G||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168239.1|protein_coding|5/11|c.938-35A>G||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_005158.4|protein_coding|6/11|c.1001-35A>G||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168236.1|protein_coding|5/10|c.983-35A>G||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168237.1|protein_coding|6/12|c.1046-35A>G||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168238.1|protein_coding|5/11|c.983-35A>G||||||,C|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136001.1|protein_coding|5/9|c.983-35A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3151;p3_1000G_AF=0.629193;p3_1000G_AFR_AF=0.7247;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=21132;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.6163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179087934;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3081,1325;ESP6500_AA_AGE=444.5+/-347.4;ESP6500_AA_GTC=1099,883,221;ESP6500_CDS_SIZES=NM_007314.3:3549,NM_005158.4:3504,NM_001168239.1:3132,NM_001168238.1:3177,NM_001168237.1:3240,NM_001168236.1:3486,NM_001136001.1:1629,NM_001136000.2:3195;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=77;ESP6500_EA_AC=5393,3207;ESP6500_EA_AGE=484.4+/-371.4;ESP6500_EA_GTC=1688,2017,595;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007314.3:intron,NM_005158.4:intron,NM_001168239.1:intron,NM_001168238.1:intron,NM_001168237.1:intron,NM_001168236.1:intron,NM_001136001.1:intron,NM_001136000.2:intron;ESP6500_GL=ABL2;ESP6500_GRCh38_POSITION=1:179118799;ESP6500_GTC=2787,2900,816;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007314.3:c.1046-35A>G,NM_005158.4:c.1001-35A>G,NM_001168239.1:c.938-35A>G,NM_001168238.1:c.983-35A>G,NM_001168237.1:c.1046-35A>G,NM_001168236.1:c.983-35A>G,NM_001136001.1:c.983-35A>G,NM_001136000.2:c.1001-35A>G;ESP6500_MAF=37.2907,30.0726,34.8455;ESP6500_TAC=8474,4532	GT:AD:DP:GQ:PL	0/1:8,8:16:99:214,0,237
chr1	179120078	rs1858551	C	T	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.593;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.084;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1858551;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_007314.3|protein_coding|6/11|c.1045+112G>A||||||,T|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136000.2|protein_coding|6/12|c.1000+112G>A||||||,T|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168239.1|protein_coding|5/11|c.937+112G>A||||||,T|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_005158.4|protein_coding|6/11|c.1000+112G>A||||||,T|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168236.1|protein_coding|5/10|c.982+112G>A||||||,T|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168237.1|protein_coding|6/12|c.1045+112G>A||||||,T|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168238.1|protein_coding|5/11|c.982+112G>A||||||,T|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136001.1|protein_coding|5/9|c.982+112G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3151;p3_1000G_AF=0.629193;p3_1000G_AFR_AF=0.7247;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=14386;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.6163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179089213;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:141,0,134
chr1	179120340	rs9726961	C	G	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.575;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=-2.208;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9726961;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_007314.3|protein_coding|5/11|c.961-66G>C||||||,G|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136000.2|protein_coding|5/12|c.916-66G>C||||||,G|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168239.1|protein_coding|4/11|c.853-66G>C||||||,G|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_005158.4|protein_coding|5/11|c.916-66G>C||||||,G|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168236.1|protein_coding|4/10|c.898-66G>C||||||,G|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168237.1|protein_coding|5/12|c.961-66G>C||||||,G|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001168238.1|protein_coding|4/11|c.898-66G>C||||||,G|intron_variant|MODIFIER|ABL2|ABL2|transcript|NM_001136001.1|protein_coding|4/9|c.898-66G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3151;p3_1000G_AF=0.629193;p3_1000G_AFR_AF=0.7247;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=16046;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.6163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179089475;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:101,0,234
chr1	179323307	rs2902277	G	A	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.139;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.699;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2902277;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|2/15|c.119-130G>A||||||,A|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|2/14|c.4-12199G>A||||||,A|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|1/14|c.-77-130G>A||||||,A|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|1/13|n.224-12199G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2930;p3_1000G_AF=0.585064;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=18989;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.5477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179292442;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:159,0,149
chr1	179335757	rs1034269	T	C	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-2.369;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1034269;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|4/15|c.329+100T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|3/14|c.155+100T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|3/14|c.134+100T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|2/13|n.375+100T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2938;p3_1000G_AF=0.586661;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=19861;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.5467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179304892;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:104,0,145
chr1	179342155	rs180839649	C	T	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.28;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-0.885;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs180839649;dbSNPBuildID=135;ANN=T|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|8/16|c.822C>T|p.Asn274Asn|1053/6922|822/1653|274/550||,T|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|7/15|c.648C>T|p.Asn216Asn|994/6863|648/1479|216/492||,T|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|7/15|c.627C>T|p.Asn209Asn|927/6796|627/1458|209/485||,T|non_coding_transcript_exon_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|6/14|n.972C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=11847;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179311290;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:258,0,359
chr1	179342967	rs4651024	T	C	491.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.61;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-2.575;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4651024;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|9/15|c.941+24T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|8/14|c.767+24T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|8/14|c.746+24T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|7/13|n.1091+24T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2287;p3_1000G_AF=0.456669;p3_1000G_AFR_AF=0.3843;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=14882;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.5497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179312102;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1764,2642;ESP6500_AA_AGE=522.7+/-370.9;ESP6500_AA_GTC=356,1052,795;ESP6500_CDS_SIZES=NM_003101.5:1653,NM_001252512.1:1458,NM_001252511.1:1479;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=125;ESP6500_EA_AC=4343,4257;ESP6500_EA_AGE=580.3+/-391.0;ESP6500_EA_GTC=1100,2143,1057;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003101.5:intron,NM_001252512.1:intron,NM_001252511.1:intron;ESP6500_GL=SOAT1;ESP6500_GRCh38_POSITION=1:179342967;ESP6500_GTC=1456,3195,1852;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003101.5:c.941+24T>C,NM_001252512.1:c.746+24T>C,NM_001252511.1:c.767+24T>C;ESP6500_MAF=49.5,40.0363,46.9553;ESP6500_TAC=6107,6899	GT:AD:DP:GQ:PL	0/1:35,19:54:99:520,0,842
chr1	179343424	rs13306728	A	G	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.524;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306728;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|9/15|c.942-166A>G||||||,G|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|8/14|c.768-166A>G||||||,G|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|8/14|c.747-166A>G||||||,G|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|7/13|n.1092-166A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=915;p3_1000G_AF=0.182708;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=11109;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179312559;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:56:95,0,56
chr1	179343617	rs10753191	C	T	390.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.818;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=6.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=-1.279;SOR=0.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10753191;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|10/16|c.969C>T|p.Val323Val|1200/6922|969/1653|323/550||,T|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|9/15|c.795C>T|p.Val265Val|1141/6863|795/1479|265/492||,T|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|9/15|c.774C>T|p.Val258Val|1074/6796|774/1458|258/485||,T|non_coding_transcript_exon_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|8/14|n.1119C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1315;p3_1000G_AF=0.26258;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=16006;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.1302;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179312752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1388,3018;ESP6500_AA_AGE=446.7+/-348.1;ESP6500_AA_GTC=218,952,1033;ESP6500_CDS_SIZES=NM_003101.5:1653,NM_001252512.1:1458,NM_001252511.1:1479;ESP6500_CG=-10.6;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=136;ESP6500_EA_AC=1210,7390;ESP6500_EA_AGE=242.9+/-272.7;ESP6500_EA_GTC=89,1032,3179;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003101.5:coding-synonymous,NM_001252512.1:coding-synonymous,NM_001252511.1:coding-synonymous;ESP6500_GL=SOAT1;ESP6500_GRCh38_POSITION=1:179343617;ESP6500_GTC=307,1984,4212;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003101.5:c.969C>T,NM_001252512.1:c.774C>T,NM_001252511.1:c.795C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003101.5:p.(V323),NM_001252512.1:p.(V258),NM_001252511.1:p.(V265);ESP6500_MAF=14.0698,31.5025,19.9754;ESP6500_TAC=2598,10408	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,14:22:99:0|1:179343608_G_T:419,0,210
chr1	179347552	rs13306729	A	G	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.97;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.178;SOR=0.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306729;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|11/15|c.1118-48A>G||||||,G|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|10/14|c.944-48A>G||||||,G|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|10/14|c.923-48A>G||||||,G|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|9/13|n.1268-48A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=485;p3_1000G_AF=0.096845;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=16685;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179316687;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0245;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=640,3764;ESP6500_AA_AGE=272.8+/-271.0;ESP6500_AA_GTC=55,530,1617;ESP6500_CDS_SIZES=NM_003101.5:1653,NM_001252512.1:1458,NM_001252511.1:1479;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=138;ESP6500_EA_AC=981,7617;ESP6500_EA_AGE=211.3+/-251.9;ESP6500_EA_GTC=59,863,3377;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003101.5:intron,NM_001252512.1:intron,NM_001252511.1:intron;ESP6500_GL=SOAT1;ESP6500_GRCh38_POSITION=1:179347552;ESP6500_GTC=114,1393,4994;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003101.5:c.1118-48A>G,NM_001252512.1:c.923-48A>G,NM_001252511.1:c.944-48A>G;ESP6500_MAF=11.4096,14.5322,12.4673;ESP6500_TAC=1621,11381	GT:AD:DP:GQ:PL	0/1:12,9:21:99:327,0,323
chr1	179348760	rs71751221;rs775600119	ATGTGTGTGTGTGTGTGTGTGTGTG	A	715.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.02;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71751221;dbSNPBuildID=134,144;ANN=A|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|12/15|c.1216-52_1216-29delGTGTGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|11/14|c.1042-52_1042-29delGTGTGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|11/14|c.1021-52_1021-29delGTGTGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|10/13|n.1366-52_1366-29delGTGTGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:179348760_ATGTGTGTGTGTGTGTGTGTGTGTG_A:753,54,0
chr1	179350406	rs3753526	C	G	1142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.19;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=1.773;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.557;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3753526;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|14/16|c.1425C>G|p.Leu475Leu|1656/6922|1425/1653|475/550||,G|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|13/15|c.1251C>G|p.Leu417Leu|1597/6863|1251/1479|417/492||,G|synonymous_variant|LOW|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|13/15|c.1230C>G|p.Leu410Leu|1530/6796|1230/1458|410/485||,G|non_coding_transcript_exon_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|12/14|n.1575C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=838;p3_1000G_AF=0.167332;p3_1000G_AFR_AF=0.0734;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=18150;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179319541;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=316,4090;ESP6500_AA_AGE=169.4+/-200.1;ESP6500_AA_GTC=10,296,1897;ESP6500_CDS_SIZES=NM_003101.5:1653,NM_001252512.1:1458,NM_001252511.1:1479;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=199;ESP6500_EA_AC=635,7965;ESP6500_EA_AGE=163.8+/-216.2;ESP6500_EA_GTC=22,591,3687;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003101.5:coding-synonymous,NM_001252512.1:coding-synonymous,NM_001252511.1:coding-synonymous;ESP6500_GL=SOAT1;ESP6500_GRCh38_POSITION=1:179350406;ESP6500_GTC=32,887,5584;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003101.5:c.1425C>G,NM_001252512.1:c.1230C>G,NM_001252511.1:c.1251C>G;ESP6500_HGVS_PROTEIN_VAR=NM_003101.5:p.(L475),NM_001252512.1:p.(L410),NM_001252511.1:p.(L417);ESP6500_MAF=7.3837,7.172,7.312;ESP6500_TAC=951,12055	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1171,0,886
chr1	179350445	rs3753527	T	C	2060.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.85;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3753527;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|14/15|c.1450+14T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|13/14|c.1276+14T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|13/14|c.1255+14T>C||||||,C|intron_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|12/13|n.1600+14T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3670;p3_1000G_AF=0.732827;p3_1000G_AFR_AF=0.7307;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=18675;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.673;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179319580;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3155,1251;ESP6500_AA_AGE=432.0+/-343.1;ESP6500_AA_GTC=1131,893,179;ESP6500_CDS_SIZES=NM_003101.5:1653,NM_001252512.1:1458,NM_001252511.1:1479;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=148;ESP6500_EA_AC=5492,3108;ESP6500_EA_AGE=474.5+/-368.9;ESP6500_EA_GTC=1756,1980,564;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003101.5:intron,NM_001252512.1:intron,NM_001252511.1:intron;ESP6500_GL=SOAT1;ESP6500_GRCh38_POSITION=1:179350445;ESP6500_GTC=2887,2873,743;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003101.5:c.1450+14T>C,NM_001252512.1:c.1255+14T>C,NM_001252511.1:c.1276+14T>C;ESP6500_MAF=36.1395,28.3931,33.5153;ESP6500_TAC=8647,4359	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2089,183,0
chr1	179351443	rs13306731	A	G	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.927;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.325;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=1.6;SOR=0.273;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306731;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|SOAT1|SOAT1|transcript|NM_003101.5|protein_coding|15/16|c.1577A>G|p.Gln526Arg|1808/6922|1577/1653|526/550||,G|missense_variant|MODERATE|SOAT1|SOAT1|transcript|NM_001252511.1|protein_coding|14/15|c.1403A>G|p.Gln468Arg|1749/6863|1403/1479|468/492||,G|missense_variant|MODERATE|SOAT1|SOAT1|transcript|NM_001252512.1|protein_coding|14/15|c.1382A>G|p.Gln461Arg|1682/6796|1382/1458|461/485||,G|non_coding_transcript_exon_variant|MODIFIER|SOAT1|SOAT1|transcript|NR_045530.1|pseudogene|13/14|n.1727A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=626;p3_1000G_AF=0.125;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=17986;p3_1000G_EAS_AF=0.3016;p3_1000G_EUR_AF=0.0736;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179320578;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=76,4330;ESP6500_AA_AGE=67.0+/-104.6;ESP6500_AA_GTC=1,74,2128;ESP6500_CDS_SIZES=NM_003101.5:1653,NM_001252512.1:1458,NM_001252511.1:1479;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=184;ESP6500_EA_AC=632,7968;ESP6500_EA_AGE=163.5+/-216.0;ESP6500_EA_GTC=22,588,3690;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003101.5:missense,NM_001252512.1:missense,NM_001252511.1:missense;ESP6500_GL=SOAT1;ESP6500_GRCh38_POSITION=1:179351443;ESP6500_GS=43,43,43;ESP6500_GTC=23,662,5818;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003101.5:c.1577A>G,NM_001252512.1:c.1382A>G,NM_001252511.1:c.1403A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003101.5:p.(Q526R),NM_001252512.1:p.(Q461R),NM_001252511.1:p.(Q468R);ESP6500_MAF=7.3488,1.7249,5.4436;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=708,12298	GT:AD:DP:GQ:PL	0/1:12,22:34:99:543,0,308
chr1	179370127	rs16854009	C	G	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.723;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.919;SOR=0.947;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16854009;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|4/25|c.374+49C>G||||||,G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|4/25|n.635+49C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=831;p3_1000G_AF=0.165935;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=19567;p3_1000G_EAS_AF=0.3254;p3_1000G_EUR_AF=0.0885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179339262;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=336,4070;ESP6500_AA_GTC=13,310,1880;ESP6500_CDS_SIZES=NM_144696.4:3039;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=20;ESP6500_EA_AC=754,7842;ESP6500_EA_GTC=28,698,3572;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144696.4:intron;ESP6500_GL=AXDND1;ESP6500_GRCh38_POSITION=1:179370127;ESP6500_GTC=41,1008,5452;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_144696.4:c.374+49C>G;ESP6500_MAF=8.7715,7.626,8.3833;ESP6500_TAC=1090,11912	GT:AD:DP:GQ:PL	0/1:18,18:36:99:470,0,515
chr1	179370199	rs6666358	G	A	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.031;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-0.152;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6666358;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|4/25|c.374+121G>A||||||,A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|4/25|n.635+121G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3380;p3_1000G_AF=0.67492;p3_1000G_AFR_AF=0.7413;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=14369;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.8032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179339334;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:257,0,174
chr1	179378697	rs10798674	T	C	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.48;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=1.18;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10798674;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|5/26|c.435T>C|p.Val145Val|822/3642|435/3039|145/1012||,C|non_coding_transcript_exon_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|5/26|n.696T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2563;p3_1000G_AF=0.511781;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=14205;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179347832;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1413,2993;ESP6500_AA_AGE=460.7+/-352.7;ESP6500_AA_GTC=230,953,1020;ESP6500_CDS_SIZES=NM_144696.4:3039;ESP6500_CG=-1.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=113;ESP6500_EA_AC=3991,4609;ESP6500_EA_AGE=553.1+/-386.2;ESP6500_EA_GTC=933,2125,1242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144696.4:coding-synonymous;ESP6500_GL=AXDND1;ESP6500_GRCh38_POSITION=1:179378697;ESP6500_GTC=1163,3078,2262;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144696.4:c.435T>C;ESP6500_HGVS_PROTEIN_VAR=NM_144696.4:p.(V145);ESP6500_MAF=46.407,32.0699,41.5501;ESP6500_TAC=5404,7602	GT:AD:DP:GQ:PL	0/1:6,3:9:65:65,0,155
chr1	179383601	rs4077551	T	C	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.07;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=1.03;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4077551;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|8/25|c.741+57T>C||||||,C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|8/25|n.1002+57T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=864;p3_1000G_AF=0.172524;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=16276;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179352736;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,14:24:99:451,0,266
chr1	179385169	rs7541905	A	G	583.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=0.972;SOR=0.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7541905;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|8/25|c.742-69A>G||||||,G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|8/25|n.1003-69A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3894;p3_1000G_AF=0.777556;p3_1000G_AFR_AF=0.6891;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=19078;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179354304;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,20:35:99:612,0,395
chr1	179394140	rs16854064	C	A	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.797;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.834;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16854064;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|10/25|c.1004+97C>A||||||,A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|10/25|n.1265+97C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=485;p3_1000G_AF=0.096845;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=19379;p3_1000G_EAS_AF=0.1022;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179363275;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:285,0,260
chr1	179395237	rs12405133	G	C	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=1.35;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12405133;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|11/25|c.1109+35G>C||||||,C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|11/25|n.1370+35G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=783;p3_1000G_AF=0.15635;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=16966;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179364372;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=186,4220;ESP6500_AA_AGE=113.3+/-151.4;ESP6500_AA_GTC=4,178,2021;ESP6500_CDS_SIZES=NM_144696.4:3039;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=118;ESP6500_EA_AC=761,7839;ESP6500_EA_AGE=179.3+/-228.5;ESP6500_EA_GTC=28,705,3567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144696.4:intron;ESP6500_GL=AXDND1;ESP6500_GRCh38_POSITION=1:179395237;ESP6500_GTC=32,883,5588;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_144696.4:c.1109+35G>C;ESP6500_MAF=8.8488,4.2215,7.2813;ESP6500_TAC=947,12059	GT:AD:DP:GQ:PL	0/1:5,3:8:93:93,0,100
chr1	179429401	rs6662859	G	A	199.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.54;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6662859;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|12/25|c.1231-117G>A||||||,A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|12/25|n.1492-117G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4370;p3_1000G_AF=0.872604;p3_1000G_AFR_AF=0.826;p3_1000G_AMR_AF=0.8991;p3_1000G_AN=5008;p3_1000G_DP=15910;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.8996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179398536;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:228,21,0
chr1	179429428	rs4652382	C	G	180.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.087;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.718;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4652382;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|12/25|c.1231-90C>G||||||,G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|12/25|n.1492-90C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.6634;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=16177;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.7982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179398563;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8344;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:209,0,125
chr1	179432368	rs12097041	G	A	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.286;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.349;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.14;SOR=0.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12097041;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|15/25|c.1563+26G>A||||||,A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|15/25|n.1824+26G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=869;p3_1000G_AF=0.173522;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=18702;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.1044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179401503;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=404,3980;ESP6500_AA_GTC=22,360,1810;ESP6500_CDS_SIZES=NM_144696.4:3039;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=24;ESP6500_EA_AC=870,7714;ESP6500_EA_GTC=38,794,3460;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144696.4:intron;ESP6500_GL=AXDND1;ESP6500_GRCh38_POSITION=1:179432368;ESP6500_GTC=60,1154,5270;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144696.4:c.1563+26G>A;ESP6500_MAF=10.1351,9.2153,9.8242;ESP6500_TAC=1274,11694	GT:AD:DP:GQ:PL	0/1:36,21:57:99:567,0,1023
chr1	179432429	rs10706073;rs572068654;rs796194997	CT	C	1243.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.468;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.92;ReadPosRankSum=1.12;SOR=0.293;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10706073,rs76684458;dbSNPBuildID=137,142,146;ANN=C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|15/25|c.1563+99delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|15/25|n.1824+99delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,42:43:99:1233,124,0
chr1	179468692	rs7514278	G	A	577.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7514278;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|17/25|c.1997+51G>A||||||,A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|16/25|n.2023+51G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4303;p3_1000G_AF=0.859225;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=16544;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179437827;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3478,900;ESP6500_AA_GTC=1374,730,85;ESP6500_CDS_SIZES=NM_144696.4:3039;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=7631,957;ESP6500_EA_GTC=3393,845,56;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144696.4:intron;ESP6500_GL=AXDND1;ESP6500_GRCh38_POSITION=1:179468692;ESP6500_GTC=4767,1575,141;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144696.4:c.1997+51G>A;ESP6500_MAF=11.1435,20.5573,14.3221;ESP6500_TAC=11109,1857	GT:AD:DP:GQ:PL	1/1:0,21:21:63:606,63,0
chr1	179483059	rs6668035	C	T	524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.978;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.765;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6668035;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|17/25|c.1998-69C>T||||||,T|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|16/25|n.2024-69C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.2927;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=19311;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.5318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179452194;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,19:35:99:553,0,541
chr1	179483140	rs10494520	G	A	974.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.102;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-1.342;SOR=0.536;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10494520;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|18/26|c.2010G>A|p.Ala670Ala|2397/3642|2010/3039|670/1012||,A|non_coding_transcript_exon_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|17/26|n.2036G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=978;p3_1000G_AF=0.195288;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=18554;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179452275;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=614,3792;ESP6500_AA_AGE=266.2+/-267.1;ESP6500_AA_GTC=44,526,1633;ESP6500_CDS_SIZES=NM_144696.4:3039;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=128;ESP6500_EA_AC=998,7602;ESP6500_EA_AGE=215.0+/-254.5;ESP6500_EA_GTC=47,904,3349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144696.4:coding-synonymous;ESP6500_GL=AXDND1;ESP6500_GRCh38_POSITION=1:179483140;ESP6500_GTC=91,1430,4982;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144696.4:c.2010G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144696.4:p.(A670);ESP6500_MAF=11.6047,13.9355,12.3943;ESP6500_TAC=1612,11394	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1003,0,1015
chr1	179492840	rs59377201	T	C	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.955;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.467;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.78;SOR=0.231;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59377201;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|19/25|c.2292-15T>C||||||,C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|18/25|n.2318-15T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=470;p3_1000G_AF=0.0938498;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=18863;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179461975;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=183,4223;ESP6500_AA_GTC=38,107,2058;ESP6500_CDS_SIZES=NM_144696.4:3039;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=61;ESP6500_EA_AC=262,8338;ESP6500_EA_GTC=43,176,4081;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144696.4:intron;ESP6500_GL=AXDND1;ESP6500_GRCh38_POSITION=1:179492840;ESP6500_GTC=81,283,6139;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144696.4:c.2292-15T>C;ESP6500_MAF=3.0465,4.1534,3.4215;ESP6500_TAC=445,12561	GT:AD:DP:GQ:PL	0/1:17,15:32:99:393,0,424
chr1	179493014	rs7549194	A	G	811.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7549194;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|20/25|c.2388+63A>G||||||,G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|19/25|n.2414+63A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4997;p3_1000G_AF=0.997804;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16456;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179462149;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:840,72,0
chr1	179493084	rs73036768	A	G	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.439;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=1.53;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73036768;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|20/25|c.2388+133A>G||||||,G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|19/25|n.2414+133A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=470;p3_1000G_AF=0.0938498;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=14458;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179462219;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:85:149,0,85
chr1	179525477	rs35486954;rs5779031	CTACA	C	82.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.524;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5779031,rs35486954;dbSNPBuildID=126,137;ANN=C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|22/25|c.2610+57_2610+60delCATA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|22/25|n.2730+57_2730+60delCATA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,3:5:75:120,0,75
chr1	179525530	rs4620484	C	T	131.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4620484;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|22/25|c.2610+83C>T||||||,T|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|22/25|n.2730+83C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4424;p3_1000G_AF=0.883387;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=17047;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179494665;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:159,12,0
chr1	179528224	rs6698201	T	C	339.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.21;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6698201;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|22/25|c.2611-103T>C||||||,C|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|22/25|n.2731-103T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4414;p3_1000G_AF=0.88139;p3_1000G_AFR_AF=0.798;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=18835;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.9016;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179497359;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:368,27,0
chr1	179551119	rs1410591;293845	C	G	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.549;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=5.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.875;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1410591;dbSNPBuildID=88;ANN=G|3_prime_UTR_variant|MODIFIER|NPHS2|NPHS2|transcript|NM_014625.3|protein_coding|8/8|c.*54G>C|||||54|,G|3_prime_UTR_variant|MODIFIER|NPHS2|NPHS2|transcript|NM_001297575.1|protein_coding|7/7|c.*54G>C|||||54|,G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|25/25|c.3032-3393C>G||||||,G|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|25/25|n.3152-3393C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2944;p3_1000G_AF=0.587859;p3_1000G_AFR_AF=0.5946;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=22728;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.6153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179520254;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;CLINVAR_ALLELEID=278562;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397;CLINVAR_CLNDN=Steroid-resistant_nephrotic_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.179551119C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2972;CLINVAR_GENEINFO=NPHS2:7827|AXDND1:126859;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1410591	GT:AD:DP:GQ:PL	0/1:10,11:21:99:393,0,293
chr1	179551371	rs1410592;260432	G	A	1038.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.129;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.634;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1410592;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|NPHS2|NPHS2|transcript|NM_014625.3|protein_coding|8/8|c.954C>T|p.Ala318Ala|1042/1874|954/1152|318/383||,A|synonymous_variant|LOW|NPHS2|NPHS2|transcript|NM_001297575.1|protein_coding|7/7|c.750C>T|p.Ala250Ala|838/1670|750/948|250/315||,A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|25/25|c.3032-3141G>A||||||,A|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|25/25|n.3152-3141G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2943;p3_1000G_AF=0.58766;p3_1000G_AFR_AF=0.5946;p3_1000G_AMR_AF=0.634;p3_1000G_AN=5008;p3_1000G_DP=21578;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.6153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179520506;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2642,1764;ESP6500_AA_AGE=524.1+/-371.2;ESP6500_AA_GTC=779,1084,340;ESP6500_CDS_SIZES=NM_144696.4:3039,NM_014625.2:1152;ESP6500_CG=-4.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=93;ESP6500_EA_AC=5385,3215;ESP6500_EA_AGE=485.6+/-371.7;ESP6500_EA_GTC=1685,2015,600;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144696.4:intron,NM_014625.2:coding-synonymous;ESP6500_GL=NPHS2,AXDND1;ESP6500_GRCh38_POSITION=1:179551371;ESP6500_GTC=2464,3099,940;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144696.4:c.3032-3141G>A,NM_014625.2:c.954C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_014625.2:p.(A318);ESP6500_MAF=37.3837,40.0363,38.2823;ESP6500_TAC=8027,4979;CLINVAR_ALLELEID=249553;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397|MedGen:CN034406,OMIM:600995|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Steroid-resistant_nephrotic_syndrome|Nephrotic_syndrome,_idiopathic,_steroid-resistant|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.179551371G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2982;CLINVAR_GENEINFO=NPHS2:7827|AXDND1:126859;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1410592	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1067,0,1000
chr1	179552797	rs2274626	G	T	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.703;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.7;ReadPosRankSum=0.784;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274626;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NM_144696.5|protein_coding|25/25|c.3032-1715G>T||||||,T|intron_variant|MODIFIER|NPHS2|NPHS2|transcript|NM_014625.3|protein_coding|6/7|c.795-116C>A||||||,T|intron_variant|MODIFIER|AXDND1|AXDND1|transcript|NR_073544.1|pseudogene|25/25|n.3152-1715G>T||||||,T|intron_variant|MODIFIER|NPHS2|NPHS2|transcript|NM_001297575.1|protein_coding|5/6|c.591-116C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2314;p3_1000G_AF=0.462061;p3_1000G_AFR_AF=0.5726;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=21510;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.3748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179521932;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,15:24:99:477,0,299
chr1	179575763	rs1079292;260424	T	C	726.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1079292;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|NPHS2|NPHS2|transcript|NM_014625.3|protein_coding|1/8|c.102A>G|p.Gly34Gly|190/1874|102/1152|34/383||,C|synonymous_variant|LOW|NPHS2|NPHS2|transcript|NM_001297575.1|protein_coding|1/7|c.102A>G|p.Gly34Gly|190/1670|102/948|34/315||;p3_1000G_AA=C|||;p3_1000G_AC=4662;p3_1000G_AF=0.930911;p3_1000G_AFR_AF=0.823;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=8640;p3_1000G_EAS_AF=0.9812;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179544898;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2413,259;ESP6500_AA_GTC=1078,257,1;ESP6500_CDS_SIZES=NM_014625.2:1152;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=2;ESP6500_EA_AC=6224,42;ESP6500_EA_GTC=3091,42,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014625.2:coding-synonymous;ESP6500_GL=NPHS2;ESP6500_GRCh38_POSITION=1:179575763;ESP6500_GTC=4169,299,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014625.2:c.102A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014625.2:p.(G34);ESP6500_MAF=0.6703,9.6931,3.3676;ESP6500_TAC=8637,301;CLINVAR_ALLELEID=249559;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397|MedGen:CN034406,OMIM:600995|MedGen:CN169374;CLINVAR_CLNDN=Steroid-resistant_nephrotic_syndrome|Nephrotic_syndrome,_idiopathic,_steroid-resistant|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.179575763T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3282;CLINVAR_GENEINFO=NPHS2:7827;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1079292	GT:AD:DP:GQ:PL	1/1:0,22:22:66:755,66,0
chr1	179575915	rs12406197;225144	C	A	62.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-0.674;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12406197;dbSNPBuildID=120;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|NPHS2|NPHS2|transcript|NM_014625.3|protein_coding|1/8|c.-51G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|NPHS2|NPHS2|transcript|NM_001297575.1|protein_coding|1/7|c.-51G>T||||||,A|5_prime_UTR_variant|MODIFIER|NPHS2|NPHS2|transcript|NM_014625.3|protein_coding|1/8|c.-51G>T|||||51|,A|5_prime_UTR_variant|MODIFIER|NPHS2|NPHS2|transcript|NM_001297575.1|protein_coding|1/7|c.-51G>T|||||51|;p3_1000G_AA=C|||;p3_1000G_AC=918;p3_1000G_AF=0.183307;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=10644;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.2396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179545050;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=389,2581;ESP6500_AA_GTC=40,309,1136;ESP6500_CDS_SIZES=NM_014625.2:1152;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=3;ESP6500_EA_AC=1457,5131;ESP6500_EA_GTC=189,1079,2026;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014625.2:utr-5;ESP6500_GL=NPHS2;ESP6500_GRCh38_POSITION=1:179575915;ESP6500_GTC=229,1388,3162;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_014625.2:c.-51G>T;ESP6500_MAF=22.116,13.0976,19.3137;ESP6500_TAC=1846,7712;CLINVAR_AF_ESP=0.1931;CLINVAR_AF_EXAC=0.36538;CLINVAR_AF_TGP=0.1833;CLINVAR_ALLELEID=227036;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0012588,MedGen:C0403397|MedGen:CN034406,OMIM:600995;CLINVAR_CLNDISDBINCL=MedGen:CN034406,OMIM:600995;CLINVAR_CLNDN=Steroid-resistant_nephrotic_syndrome|Nephrotic_syndrome,_idiopathic,_steroid-resistant;CLINVAR_CLNDNINCL=Nephrotic_syndrome,_idiopathic,_steroid-resistant;CLINVAR_CLNHGVS=NC_000001.11:g.179575915C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNSIGINCL=225143:Pathogenic;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:2992;CLINVAR_GENEINFO=NPHS2:7827;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12406197	GT:AD:DP:GQ:PL	0/1:1,3:4:25:91,0,25
chr1	179592510	rs4652418	A	C	276.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4652418;dbSNPBuildID=111;ANN=C|5_prime_UTR_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199091.1|protein_coding|2/17|c.-106A>C|||||106|,C|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199085.1|protein_coding|1/17|c.-14-92A>C||||||,C|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_173533.3|protein_coding|1/16|c.-14-92A>C||||||,C|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199089.1|protein_coding|1/17|c.-14-92A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3902;p3_1000G_AF=0.779153;p3_1000G_AFR_AF=0.6823;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=18793;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179561645;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:305,27,0
chr1	179592548	rs4652419	A	T	377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.18;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4652419;dbSNPBuildID=111;ANN=T|5_prime_UTR_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199091.1|protein_coding|2/17|c.-68A>T|||||68|,T|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199085.1|protein_coding|1/17|c.-14-54A>T||||||,T|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_173533.3|protein_coding|1/16|c.-14-54A>T||||||,T|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199089.1|protein_coding|1/17|c.-14-54A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3880;p3_1000G_AF=0.77476;p3_1000G_AFR_AF=0.6815;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=18866;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.7455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179561683;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:406,45,0
chr1	179620894	rs35624250;rs397807290	C	CA	83.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.431;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35624250;dbSNPBuildID=126,138;ANN=CA|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199085.1|protein_coding|5/17|c.916-132dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199091.1|protein_coding|5/16|c.916-132dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_173533.3|protein_coding|5/16|c.916-132dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199089.1|protein_coding|5/17|c.916-132dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199092.1|protein_coding|2/13|c.-420-132dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,4:6:36:121,0,36
chr1	179630949	rs76739061	C	G	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.205;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=0;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76739061;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199085.1|protein_coding|7/17|c.1126+29C>G||||||,G|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199091.1|protein_coding|7/16|c.1126+29C>G||||||,G|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_173533.3|protein_coding|7/16|c.1126+29C>G||||||,G|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199089.1|protein_coding|7/17|c.1126+29C>G||||||,G|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199092.1|protein_coding|4/13|c.-210+29C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=138;p3_1000G_AF=0.0275559;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=16810;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179600084;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=11.4+/-27.6;ESP6500_AA_GTC=0,6,2197;ESP6500_CDS_SIZES=NM_173533.3:2946,NM_001199092.1:1611,NM_001199091.1:2946,NM_001199089.1:3108,NM_001199085.1:3108;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=86;ESP6500_EA_AC=4,8596;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=0,4,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173533.3:intron,NM_001199092.1:intron,NM_001199091.1:intron,NM_001199089.1:intron,NM_001199085.1:intron;ESP6500_GL=TDRD5;ESP6500_GRCh38_POSITION=1:179630949;ESP6500_GTC=0,10,6493;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_173533.3:c.1126+29C>G,NM_001199092.1:c.-4754C>G,NM_001199091.1:c.1126+29C>G,NM_001199089.1:c.1126+29C>G,NM_001199085.1:c.1126+29C>G;ESP6500_MAF=0.0465,0.1362,0.0769;ESP6500_TAC=10,12996	GT:AD:DP:GQ:PL	0/1:10,7:17:99:206,0,300
chr1	179635729	rs4628468	C	T	882.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4628468;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|TDRD5|TDRD5|transcript|NM_001199085.1|protein_coding|9/18|c.1362C>T|p.Asp454Asp|1880/3956|1362/3108|454/1035||,T|synonymous_variant|LOW|TDRD5|TDRD5|transcript|NM_001199091.1|protein_coding|9/17|c.1362C>T|p.Asp454Asp|1721/3635|1362/2946|454/981||,T|synonymous_variant|LOW|TDRD5|TDRD5|transcript|NM_173533.3|protein_coding|9/17|c.1362C>T|p.Asp454Asp|1880/3794|1362/2946|454/981||,T|synonymous_variant|LOW|TDRD5|TDRD5|transcript|NM_001199089.1|protein_coding|9/18|c.1362C>T|p.Asp454Asp|1593/3669|1362/3108|454/1035||,T|synonymous_variant|LOW|TDRD5|TDRD5|transcript|NM_001199092.1|protein_coding|6/14|c.27C>T|p.Asp9Asp|565/2479|27/1611|9/536||;p3_1000G_AA=T|||;p3_1000G_AC=3991;p3_1000G_AF=0.796925;p3_1000G_AFR_AF=0.7163;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=15467;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.7773;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179604864;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7679;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3224,1182;ESP6500_AA_AGE=414.4+/-336.8;ESP6500_AA_GTC=1181,862,160;ESP6500_CDS_SIZES=NM_173533.3:2946,NM_001199092.1:1611,NM_001199091.1:2946,NM_001199089.1:3108,NM_001199085.1:3108;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=74;ESP6500_EA_AC=6484,2116;ESP6500_EA_AGE=364.2+/-333.4;ESP6500_EA_GTC=2454,1576,270;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173533.3:coding-synonymous,NM_001199092.1:coding-synonymous,NM_001199091.1:coding-synonymous,NM_001199089.1:coding-synonymous,NM_001199085.1:coding-synonymous;ESP6500_GL=TDRD5;ESP6500_GRCh38_POSITION=1:179635729;ESP6500_GTC=3635,2438,430;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173533.3:c.1362C>T,NM_001199092.1:c.27C>T,NM_001199091.1:c.1362C>T,NM_001199089.1:c.1362C>T,NM_001199085.1:c.1362C>T;ESP6500_HGVS_PROTEIN_VAR=NM_173533.3:p.(D454),NM_001199092.1:p.(D9),NM_001199091.1:p.(D454),NM_001199089.1:p.(D454),NM_001199085.1:p.(D454);ESP6500_MAF=24.6047,26.8271,25.3575;ESP6500_TAC=9708,3298	GT:AD:DP:GQ:PL	1/1:0,29:29:87:911,87,0
chr1	179640454	rs16854429	G	T	484.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.608;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.814;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.672;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16854429;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199085.1|protein_coding|11/17|c.1800+9G>T||||||,T|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199091.1|protein_coding|11/16|c.1800+9G>T||||||,T|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_173533.3|protein_coding|11/16|c.1800+9G>T||||||,T|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199089.1|protein_coding|11/17|c.1800+9G>T||||||,T|intron_variant|MODIFIER|TDRD5|TDRD5|transcript|NM_001199092.1|protein_coding|8/13|c.465+9G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1103;p3_1000G_AF=0.220248;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=19838;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.2117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179609589;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=447,3959;ESP6500_AA_AGE=214.5+/-233.7;ESP6500_AA_GTC=21,405,1777;ESP6500_CDS_SIZES=NM_173533.3:2946,NM_001199092.1:1611,NM_001199091.1:2946,NM_001199089.1:3108,NM_001199085.1:3108;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=153;ESP6500_EA_AC=1745,6855;ESP6500_EA_AGE=317.4+/-313.2;ESP6500_EA_GTC=166,1413,2721;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173533.3:intron,NM_001199092.1:intron,NM_001199091.1:intron,NM_001199089.1:intron,NM_001199085.1:intron;ESP6500_GL=TDRD5;ESP6500_GRCh38_POSITION=1:179640454;ESP6500_GTC=187,1818,4498;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_173533.3:c.1800+9G>T,NM_001199092.1:c.465+9G>T,NM_001199091.1:c.1800+9G>T,NM_001199089.1:c.1800+9G>T,NM_001199085.1:c.1800+9G>T;ESP6500_MAF=20.2907,10.1453,16.8538;ESP6500_TAC=2192,10814	GT:AD:DP:GQ:PL	0/1:20,20:40:99:513,0,455
chr1	179846882	rs79921581	C	G	627.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.299;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=4.218;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=0.897;SOR=0.19;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79921581;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|TOR1AIP2|TOR1AIP2|transcript|NM_001199260.1|protein_coding|6/6|c.656-54G>C||||||,G|intron_variant|MODIFIER|TOR1AIP2|TOR1AIP2|transcript|NM_145034.4|protein_coding|5/5|c.656-54G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=381;p3_1000G_AF=0.0760783;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=17175;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.1083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179816017;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,21:31:99:656,0,338
chr1	179882939	rs1281378;257699	T	C	750.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.72;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.945;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=1.41;SOR=1.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1281378;dbSNPBuildID=87;ANN=C|missense_variant|MODERATE|TOR1AIP1|TOR1AIP1|transcript|NM_001267578.1|protein_coding|1/10|c.437T>C|p.Met146Thr|898/4054|437/1755|146/584||,C|missense_variant|MODERATE|TOR1AIP1|TOR1AIP1|transcript|NM_015602.3|protein_coding|1/10|c.437T>C|p.Met146Thr|898/4051|437/1752|146/583||;p3_1000G_AA=T|||;p3_1000G_AC=3049;p3_1000G_AF=0.608826;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=15312;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.6133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179852074;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1953,2443;ESP6500_AA_GTC=455,1043,700;ESP6500_CDS_SIZES=NM_015602.3:1752,NM_001267578.1:1755;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=18;ESP6500_EA_AC=5433,3147;ESP6500_EA_GTC=1737,1959,594;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015602.3:missense,NM_001267578.1:missense;ESP6500_GL=TOR1AIP1;ESP6500_GRCh38_POSITION=1:179882939;ESP6500_GS=81,81;ESP6500_GTC=2192,3002,1294;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015602.3:c.437T>C,NM_001267578.1:c.437T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015602.3:p.(M146T),NM_001267578.1:p.(M146T);ESP6500_MAF=36.6783,44.4268,43.0795;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7386,5590;CLINVAR_ALLELEID=249561;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.179882939T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q5JTV8#VAR_025717;CLINVAR_GENEINFO=TOR1AIP1:26092;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1281378	GT:AD:DP:GQ:PL	0/1:28,27:55:99:779,0,664
chr1	179883024	rs78856676	G	C	754.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.299;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.35;ReadPosRankSum=2.22;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78856676;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|TOR1AIP1|TOR1AIP1|transcript|NM_001267578.1|protein_coding|1/9|c.475+47G>C||||||,C|intron_variant|MODIFIER|TOR1AIP1|TOR1AIP1|transcript|NM_015602.3|protein_coding|1/9|c.475+47G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=709;p3_1000G_AF=0.141573;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=15546;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179852159;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,20:39:99:0|1:179883024_G_C:783,0,729
chr1	179883025	rs76860548	C	T	754.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.048;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.86;ReadPosRankSum=1.98;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76860548;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|TOR1AIP1|TOR1AIP1|transcript|NM_001267578.1|protein_coding|1/9|c.475+48C>T||||||,T|intron_variant|MODIFIER|TOR1AIP1|TOR1AIP1|transcript|NM_015602.3|protein_coding|1/9|c.475+48C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=710;p3_1000G_AF=0.141773;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=15612;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179852160;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,20:38:99:0|1:179883024_G_C:783,0,729
chr1	179889198	rs1300068	C	T	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.365;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=-0.628;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1300068;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|TOR1AIP1|TOR1AIP1|transcript|NM_001267578.1|protein_coding|2/9|c.554-112C>T||||||,T|intron_variant|MODIFIER|TOR1AIP1|TOR1AIP1|transcript|NM_015602.3|protein_coding|2/9|c.554-115C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3031;p3_1000G_AF=0.605232;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=17031;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179858333;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:114,0,179
chr1	179889309	rs2245425;257701	G	A	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.146;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.155;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.734;SOR=1.118;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2245425;dbSNPBuildID=100;ANN=A|splice_acceptor_variant&intron_variant|HIGH|TOR1AIP1|TOR1AIP1|transcript|NM_001267578.1|protein_coding|2/9|c.554-1G>A||||||,A|splice_region_variant&intron_variant|LOW|TOR1AIP1|TOR1AIP1|transcript|NM_015602.3|protein_coding|2/9|c.554-4G>A||||||;LOF=(TOR1AIP1|TOR1AIP1|2|0.50);p3_1000G_AA=G|||;p3_1000G_AC=3182;p3_1000G_AF=0.635383;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=16866;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.6064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179858444;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2219,2187;ESP6500_AA_AGE=590.7+/-387.4;ESP6500_AA_GTC=553,1113,537;ESP6500_CDS_SIZES=NM_015602.3:1752,NM_001267578.1:1755;ESP6500_CG=5.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=102;ESP6500_EA_AC=5362,3234;ESP6500_EA_AGE=649.3+/-400.6;ESP6500_EA_GTC=1674,2014,610;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015602.3:intron,NM_001267578.1:splice-3;ESP6500_GL=TOR1AIP1;ESP6500_GRCh38_POSITION=1:179889309;ESP6500_GTC=2227,3127,1147;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015602.3:c.554-4G>A,NM_001267578.1:c.554-1G>A;ESP6500_MAF=37.6221,49.6369,41.6936;ESP6500_TAC=7581,5421;CLINVAR_ALLELEID=249563;CLINVAR_CLNDISDB=MedGen:C4310731,OMIM:617072,Orphanet:ORPHA424261|MedGen:CN169374;CLINVAR_CLNDN=Muscular_dystrophy,_limb-girdle,_type_2y|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.179889309G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Undiagnosed_Diseases_Network,NIH:c090ec06-0f04-4012-9f93-77a7df1fe4db_2;CLINVAR_GENEINFO=TOR1AIP1:26092;CLINVAR_MC=SO:0001574|splice_acceptor_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=17;CLINVAR_RS=2245425	GT:AD:DP:GQ:PL	0/1:17,13:30:99:294,0,415
chr1	179907853	rs609521;257703	C	G	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.488;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.262;SOR=0.477;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs609521;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|TOR1AIP1|TOR1AIP1|transcript|NM_001267578.1|protein_coding|7/10|c.830C>G|p.Pro277Arg|1291/4054|830/1755|277/584||,G|missense_variant|MODERATE|TOR1AIP1|TOR1AIP1|transcript|NM_015602.3|protein_coding|7/10|c.827C>G|p.Pro276Arg|1288/4051|827/1752|276/583||;p3_1000G_AA=C|||;p3_1000G_AC=2925;p3_1000G_AF=0.584065;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=11847;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.6093;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179876988;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1613,2793;ESP6500_AA_AGE=495.5+/-363.3;ESP6500_AA_GTC=292,1029,882;ESP6500_CDS_SIZES=NM_015602.3:1752,NM_001267578.1:1755;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=122;ESP6500_EA_AC=5413,3187;ESP6500_EA_AGE=652.5+/-400.9;ESP6500_EA_GTC=1700,2013,587;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015602.3:missense,NM_001267578.1:missense;ESP6500_GL=TOR1AIP1;ESP6500_GRCh38_POSITION=1:179907853;ESP6500_GS=103,103;ESP6500_GTC=1992,3042,1469;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015602.3:c.827C>G,NM_001267578.1:c.830C>G;ESP6500_HGVS_PROTEIN_VAR=NM_015602.3:p.(P276R),NM_001267578.1:p.(P277R);ESP6500_MAF=37.0581,36.6092,45.9788;ESP6500_PH=possibly-damaging:0.81,possibly-damaging:0.81;ESP6500_TAC=7026,5980;CLINVAR_ALLELEID=249565;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.179907853C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TOR1AIP1:26092;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=609521	GT:AD:DP:GQ:PL	0/1:4,11:15:86:319,0,86
chr1	179917990	rs627897;257698	G	A	2428.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=0.832;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs627897;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|TOR1AIP1|TOR1AIP1|transcript|NM_001267578.1|protein_coding|10/10|c.1506G>A|p.Ala502Ala|1967/4054|1506/1755|502/584||,A|synonymous_variant|LOW|TOR1AIP1|TOR1AIP1|transcript|NM_015602.3|protein_coding|10/10|c.1503G>A|p.Ala501Ala|1964/4051|1503/1752|501/583||;p3_1000G_AA=A|||;p3_1000G_AC=4600;p3_1000G_AF=0.91853;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=21710;p3_1000G_EAS_AF=0.9147;p3_1000G_EUR_AF=0.9523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179887125;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9642;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3854,552;ESP6500_AA_AGE=247.5+/-255.7;ESP6500_AA_GTC=1687,480,36;ESP6500_CDS_SIZES=NM_015602.3:1752,NM_001267578.1:1755;ESP6500_CG=-2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=95;ESP6500_EA_AC=8209,391;ESP6500_EA_AGE=125.6+/-184.2;ESP6500_EA_GTC=3917,375,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015602.3:coding-synonymous,NM_001267578.1:coding-synonymous;ESP6500_GL=TOR1AIP1;ESP6500_GRCh38_POSITION=1:179917990;ESP6500_GTC=5604,855,44;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015602.3:c.1503G>A,NM_001267578.1:c.1506G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015602.3:p.(A501),NM_001267578.1:p.(A502);ESP6500_MAF=4.5465,12.5284,7.2505;ESP6500_TAC=12063,943;CLINVAR_ALLELEID=249568;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.179917990G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TOR1AIP1:26092;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=627897	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2457,225,0
chr1	179987220	rs140510451;rs58841312	AAT	A	151.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.473;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=1.85;SOR=0.76;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs140510451,rs58841312;dbSNPBuildID=134,129;ANN=A|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|2/37|c.74-17_74-16delAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=238;p3_1000G_AF=0.047524;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=12504;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179956355;p3_1000G_GRCH37_REF=AAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=INDEL;ESP6500_AA_AC=226,4038;ESP6500_AA_GTC=9,208,1915;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=1.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=62;ESP6500_EA_AC=165,8085;ESP6500_EA_GTC=10,145,3970;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:179987220;ESP6500_GTC=19,353,5885;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.74-19_74-18del2;ESP6500_MAF=2.0,5.3002,3.1245;ESP6500_TAC=391,12123	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:179987220_AAT_A:189,0,432
chr1	179987224	rs58749862	T	C	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.571;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58749862;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|2/37|c.74-16T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=238;p3_1000G_AF=0.047524;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=12005;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179956359;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:179987220_AAT_A:189,0,432
chr1	179992233	rs148001345;~rs148001345	GA	G	101.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.014;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=0.702;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs148001345;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|5/37|c.395+22delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=258;p3_1000G_AF=0.0515176;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=17007;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.0189;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179961368;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=INDEL;ESP6500_AA_AC=18,85,390,3731;ESP6500_AA_GTC=0,0,0,18,1,0,83,23,344,1643;ESP6500_CDS_SIZES=NM_014810.4:9354,NM_014810.4:9354,NM_014810.4:9354;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=19;ESP6500_EA_AC=26,187,501,7458;ESP6500_EA_GTC=2,0,1,21,3,2,179,14,470,3394;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron,NM_014810.4:intron,NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:179992233;ESP6500_GTC=2,0,1,39,4,2,262,37,814,5037;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.395+13del1,NM_014810.4:c.395+12_395+13insA,NM_014810.4:c.395+12_395+13insAA;ESP6500_MAF=8.7372,11.6714,9.737;ESP6500_TAC=44,272,891,11189	GT:AD:DP:GQ:PL	0/1:5,6:11:99:139,0,109
chr1	179996981	rs745667197	G	A	675.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.523;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.082;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.067;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|CEP350|CEP350|transcript|NM_014810.4|protein_coding|6/38|c.824G>A|p.Arg275Gln|1207/13456|824/9354|275/3117||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,28:52:99:0|1:179996981_G_A:704,0,642
chr1	180014530	rs2501607	G	A	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.367;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.167;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2501607;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|10/37|c.2052+25G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2828;p3_1000G_AF=0.564696;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=21349;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.6461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179983665;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1499,2881;ESP6500_AA_GTC=262,975,953;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=-0.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=5494,3038;ESP6500_EA_GTC=1811,1872,583;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180014530;ESP6500_GTC=2073,2847,1536;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.2052+25G>A;ESP6500_MAF=35.6071,34.2237,45.8411;ESP6500_TAC=6993,5919	GT:AD:DP:GQ:PL	0/1:15,20:35:99:499,0,429
chr1	180016021	rs16855107	C	T	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.294;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=0.825;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16855107;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|11/37|c.2174+51C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=558;p3_1000G_AF=0.111422;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=18963;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.1312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179985156;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=306,2348;ESP6500_AA_GTC=19,268,1040;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=32;ESP6500_EA_AC=650,3968;ESP6500_EA_GTC=55,540,1714;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180016021;ESP6500_GTC=74,808,2754;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.2174+51C>T;ESP6500_MAF=14.0754,11.5298,13.1463;ESP6500_TAC=956,6316	GT:AD:DP:GQ:PL	0/1:7,16:23:99:480,0,191
chr1	180020607	rs2477120	G	C	917.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.095;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=3.084;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.84;SOR=1.121;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2477120;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|CEP350|CEP350|transcript|NM_014810.4|protein_coding|12/38|c.2833G>C|p.Glu945Gln|3216/13456|2833/9354|945/3117||;p3_1000G_AA=G|||;p3_1000G_AC=2826;p3_1000G_AF=0.564297;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=20768;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.6461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179989742;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1467,2939;ESP6500_AA_AGE=472.6+/-356.4;ESP6500_AA_GTC=240,987,976;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=6.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=86;ESP6500_EA_AC=5532,3068;ESP6500_EA_AGE=660.8+/-401.8;ESP6500_EA_GTC=1795,1942,563;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014810.4:missense;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180020607;ESP6500_GS=29;ESP6500_GTC=2035,2929,1539;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.2833G>C;ESP6500_HGVS_PROTEIN_VAR=NM_014810.4:p.(E945Q);ESP6500_MAF=35.6744,33.2955,46.1864;ESP6500_PH=probably-damaging:0.963;ESP6500_TAC=6999,6007	GT:AD:DP:GQ:PL	0/1:43,35:78:99:946,0,1335
chr1	180024658	rs4622030	T	C	83.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4622030;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|14/37|c.3550+76T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4253;p3_1000G_AF=0.849241;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=15628;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.8668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179993793;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:111,9,0
chr1	180052054	rs76816462	A	G	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.82;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.786;SOR=0.746;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76816462;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|22/37|c.4793-916A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=528;p3_1000G_AF=0.105431;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=20780;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.1302;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180021189;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,13:35:99:415,0,673
chr1	180053208	rs9425854	T	G	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.18;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9425854;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|23/37|c.4989+42T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2835;p3_1000G_AF=0.566094;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=18080;p3_1000G_EAS_AF=0.7073;p3_1000G_EUR_AF=0.6461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180022343;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1484,2918;ESP6500_AA_GTC=251,982,968;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=36;ESP6500_EA_AC=5528,3072;ESP6500_EA_GTC=1794,1940,566;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180053208;ESP6500_GTC=2045,2922,1534;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.4989+42T>G;ESP6500_MAF=35.7209,33.7119,46.0698;ESP6500_TAC=7012,5990	GT:AD:DP:GQ:PL	0/1:3,4:7:86:139,0,86
chr1	180065087	rs41267622	A	G	716.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.457;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=0.197;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41267622;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|26/37|c.5410-28A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=239;p3_1000G_AF=0.0477236;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=16756;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180034222;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=221,4185;ESP6500_AA_AGE=126.1+/-163.2;ESP6500_AA_GTC=5,211,1987;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=38;ESP6500_EA_AC=153,8447;ESP6500_EA_AGE=69.7+/-132.2;ESP6500_EA_GTC=2,149,4149;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180065087;ESP6500_GTC=7,360,6136;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.5410-28A>G;ESP6500_MAF=1.7791,5.0159,2.8756;ESP6500_TAC=374,12632	GT:AD:DP:GQ:PL	0/1:14,24:38:99:745,0,366
chr1	180078682	rs74895300	A	C	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.12;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74895300;dbSNPBuildID=132;ANN=C|splice_region_variant&intron_variant|LOW|CEP350|CEP350|transcript|NM_014810.4|protein_coding|29/37|c.5979+8A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=274;p3_1000G_AF=0.0547125;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=16805;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0229;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180047817;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=300,4100;ESP6500_AA_GTC=12,276,1912;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=26;ESP6500_EA_AC=172,8422;ESP6500_EA_GTC=2,168,4127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180078682;ESP6500_GTC=14,444,6039;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.5979+8A>C;ESP6500_MAF=2.0014,6.8182,3.6324;ESP6500_TAC=472,12522	GT:AD:DP:GQ:PL	0/1:15,13:28:99:360,0,374
chr1	180090601	rs67852047;rs67893475	GACATACCT	G	124.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=0.842;SOR=3.258;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs67893475,rs67852047;dbSNPBuildID=130,131;ANN=G|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|32/37|c.6426-110_6426-103delATACCTAC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2947;p3_1000G_AF=0.588458;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=10961;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.6461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180059736;p3_1000G_GRCH37_REF=GACATACCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,4:6:99:162,0,146
chr1	180090676	rs10798729	A	C	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.328;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=4.467;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=0.259;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10798729;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|32/37|c.6426-38A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2836;p3_1000G_AF=0.566294;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=12386;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.6461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180059811;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1542,2662;ESP6500_AA_GTC=322,898,882;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=32;ESP6500_EA_AC=5447,2765;ESP6500_EA_GTC=1887,1673,546;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180090676;ESP6500_GTC=2209,2571,1428;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.6426-38A>C;ESP6500_MAF=33.6702,36.6794,43.7097;ESP6500_TAC=6989,5427	GT:AD:DP:GQ:PL	0/1:7,9:16:99:175,0,196
chr1	180098853	rs12121845	G	A	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.619;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12121845;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|36/37|c.9067-10G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=639;p3_1000G_AF=0.127596;p3_1000G_AFR_AF=0.1687;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=17372;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.1302;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180067988;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=682,3724;ESP6500_AA_AGE=760.4+/-413.0;ESP6500_AA_GTC=56,570,1577;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=78;ESP6500_EA_AC=1195,7405;ESP6500_EA_AGE=762.3+/-407.6;ESP6500_EA_GTC=100,995,3205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180098853;ESP6500_GTC=156,1565,4782;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.9067-10G>A;ESP6500_MAF=13.8953,15.4789,14.4318;ESP6500_TAC=1877,11129	GT:AD:DP:GQ:PL	0/1:2,6:8:64:147,0,64
chr1	180110980	rs3767202	T	G	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.998;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767202;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|37/37|c.9190-17T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2762;p3_1000G_AF=0.551518;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=19225;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.6451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180080115;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1278,3128;ESP6500_AA_AGE=431.6+/-343.0;ESP6500_AA_GTC=183,912,1108;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=79;ESP6500_EA_AC=5525,3075;ESP6500_EA_AGE=657.7+/-401.5;ESP6500_EA_GTC=1792,1941,567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:intron;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180110980;ESP6500_GTC=1975,2853,1675;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.9190-17T>G;ESP6500_MAF=35.7558,29.0059,47.6934;ESP6500_TAC=6803,6203	GT:AD:DP:GQ:PL	0/1:7,5:12:99:183,0,197
chr1	180111178	rs16855289	C	T	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.605;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16855289;dbSNPBuildID=123;ANN=T|3_prime_UTR_variant|MODIFIER|CEP350|CEP350|transcript|NM_014810.4|protein_coding|38/38|c.*17C>T|||||17|;p3_1000G_AA=C|||;p3_1000G_AC=241;p3_1000G_AF=0.048123;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=23183;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180080313;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=222,4184;ESP6500_AA_AGE=134.5+/-170.7;ESP6500_AA_GTC=6,210,1987;ESP6500_CDS_SIZES=NM_014810.4:9354;ESP6500_CG=-3.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=63;ESP6500_EA_AC=153,8447;ESP6500_EA_AGE=73.5+/-136.2;ESP6500_EA_GTC=2,149,4149;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014810.4:utr-3;ESP6500_GL=CEP350;ESP6500_GRCh38_POSITION=1:180111178;ESP6500_GTC=8,359,6136;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014810.4:c.*17C>T;ESP6500_MAF=1.7791,5.0386,2.8833;ESP6500_TAC=375,12631	GT:AD:DP:GQ:PL	0/1:6,5:11:99:148,0,138
chr1	180154926	rs10913933	G	C	161.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.11;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10913933;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|1/12|c.19G>C|p.Gly7Arg|94/3316|19/2244|7/747||,C|missense_variant|MODERATE|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|1/13|c.19G>C|p.Gly7Arg|94/2583|19/1815|7/604||;p3_1000G_AA=G|||;p3_1000G_AC=270;p3_1000G_AF=0.0539137;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=5907;p3_1000G_EAS_AF=0.0873;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180124061;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:190,21,0
chr1	180175953	rs2298206	A	G	965.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2298206;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|4/12|c.435A>G|p.Thr145Thr|510/3316|435/2244|145/747||,G|synonymous_variant|LOW|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|4/13|c.435A>G|p.Thr145Thr|510/2583|435/1815|145/604||;p3_1000G_AA=G|||;p3_1000G_AC=4435;p3_1000G_AF=0.885583;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=16309;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.9563;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180145088;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3687,713;ESP6500_AA_GTC=1547,593,60;ESP6500_CDS_SIZES=NM_002826.4:2244,NM_001004128.2:1815;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=8232,362;ESP6500_EA_GTC=3937,358,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002826.4:coding-synonymous,NM_001004128.2:coding-synonymous;ESP6500_GL=QSOX1;ESP6500_GRCh38_POSITION=1:180175953;ESP6500_GTC=5484,951,62;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002826.4:c.435A>G,NM_001004128.2:c.435A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002826.4:p.(T145),NM_001004128.2:p.(T145);ESP6500_MAF=4.2122,16.2045,8.273;ESP6500_TAC=11919,1075	GT:AD:DP:GQ:PL	1/1:0,32:32:96:994,96,0
chr1	180186247	rs3216058;rs397840181	AG	A	129.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.581;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-0.708;SOR=0.255;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3216058;dbSNPBuildID=132,138;ANN=A|intron_variant|MODIFIER|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|8/11|c.1017+67delG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|8/12|c.1017+67delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=G|GG|G|insertion;p3_1000G_AC=4097;p3_1000G_AF=0.818091;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=20544;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.9374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180155382;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8681;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:12,6:18:99:167,0,395
chr1	180190519	rs7521513	C	T	1169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.888;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=1.19;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7521513;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|10/12|c.1227C>T|p.Val409Val|1302/3316|1227/2244|409/747||,T|synonymous_variant|LOW|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|10/13|c.1227C>T|p.Val409Val|1302/2583|1227/1815|409/604||;p3_1000G_AA=C|||;p3_1000G_AC=630;p3_1000G_AF=0.125799;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=18817;p3_1000G_EAS_AF=0.0744;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180159654;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=388,4018;ESP6500_AA_GTC=27,334,1842;ESP6500_CDS_SIZES=NM_002826.4:2244,NM_001004128.2:1815;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=126;ESP6500_EA_AC=1340,7260;ESP6500_EA_GTC=121,1098,3081;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002826.4:coding-synonymous,NM_001004128.2:coding-synonymous;ESP6500_GL=QSOX1;ESP6500_GRCh38_POSITION=1:180190519;ESP6500_GTC=148,1432,4923;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002826.4:c.1227C>T,NM_001004128.2:c.1227C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002826.4:p.(V409),NM_001004128.2:p.(V409);ESP6500_MAF=15.5814,8.8062,13.2862;ESP6500_TAC=1728,11278	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,31:62:99:0|1:180190519_C_T:1198,0,1298
chr1	180190522	rs1050154	C	T	1163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.525;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.18;ReadPosRankSum=0.68;SOR=0.497;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1050154;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|10/12|c.1230C>T|p.Leu410Leu|1305/3316|1230/2244|410/747||,T|synonymous_variant|LOW|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|10/13|c.1230C>T|p.Leu410Leu|1305/2583|1230/1815|410/604||;p3_1000G_AA=C|||;p3_1000G_AC=629;p3_1000G_AF=0.125599;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=18905;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180159657;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=390,4016;ESP6500_AA_GTC=27,336,1840;ESP6500_CDS_SIZES=NM_002826.4:2244,NM_001004128.2:1815;ESP6500_CG=-1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=125;ESP6500_EA_AC=1353,7247;ESP6500_EA_GTC=121,1111,3068;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002826.4:coding-synonymous,NM_001004128.2:coding-synonymous;ESP6500_GL=QSOX1;ESP6500_GRCh38_POSITION=1:180190522;ESP6500_GTC=148,1447,4908;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002826.4:c.1230C>T,NM_001004128.2:c.1230C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002826.4:p.(L410),NM_001004128.2:p.(L410);ESP6500_MAF=15.7326,8.8516,13.4015;ESP6500_TAC=1743,11263	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,31:64:99:0|1:180190519_C_T:1192,0,1358
chr1	180190593	rs12091378	C	G	487.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=8.57;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=-0.087;SOR=2.91;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12091378;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|10/11|c.1288+13C>G||||||,G|intron_variant|MODIFIER|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|10/12|c.1288+13C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=252;p3_1000G_AF=0.0503195;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=18558;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180159728;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=232,4174;ESP6500_AA_AGE=133.7+/-170.0;ESP6500_AA_GTC=6,220,1977;ESP6500_CDS_SIZES=NM_002826.4:2244,NM_001004128.2:1815;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=81;ESP6500_EA_AC=69,8531;ESP6500_EA_AGE=40.8+/-97.7;ESP6500_EA_GTC=1,67,4232;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002826.4:intron,NM_001004128.2:intron;ESP6500_GL=QSOX1;ESP6500_GRCh38_POSITION=1:180190593;ESP6500_GTC=7,287,6209;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002826.4:c.1288+13C>G,NM_001004128.2:c.1288+13C>G;ESP6500_MAF=0.8023,5.2655,2.3143;ESP6500_TAC=301,12705	GT:AD:DP:GQ:PL	0/1:12,15:27:99:516,0,323
chr1	180194443	rs67343209	G	T	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.156;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.674;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67343209;dbSNPBuildID=130;ANN=T|upstream_gene_variant|MODIFIER|FLJ23867|FLJ23867|transcript|NR_026900.1|pseudogene||n.-3566G>T|||||3566|,T|intron_variant|MODIFIER|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|11/11|c.1468+51G>T||||||,T|intron_variant|MODIFIER|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|11/12|c.1468+51G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=469;p3_1000G_AF=0.0936502;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=19240;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.0477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180163578;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=484,3922;ESP6500_AA_GTC=30,424,1749;ESP6500_CDS_SIZES=NM_002826.4:2244,NM_001004128.2:1815;ESP6500_CG=2.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=27;ESP6500_EA_AC=346,8254;ESP6500_EA_GTC=7,332,3961;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002826.4:intron,NM_001004128.2:intron;ESP6500_GL=QSOX1;ESP6500_GRCh38_POSITION=1:180194443;ESP6500_GTC=37,756,5710;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002826.4:c.1468+51G>T,NM_001004128.2:c.1468+51G>T;ESP6500_MAF=4.0233,10.985,6.3817;ESP6500_TAC=830,12176	GT:AD:DP:GQ:PL	0/1:4,6:10:99:177,0,102
chr1	180196564	rs3738115	A	C	631.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.31;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=5.343;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.16;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738115;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|12/12|c.1771A>C|p.Asn591His|1846/3316|1771/2244|591/747||,C|missense_variant|MODERATE|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|12/13|c.1771A>C|p.Asn591His|1846/2583|1771/1815|591/604||,C|upstream_gene_variant|MODIFIER|FLJ23867|FLJ23867|transcript|NR_026900.1|pseudogene||n.-1445A>C|||||1445|;p3_1000G_AA=A|||;p3_1000G_AC=329;p3_1000G_AF=0.0656949;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=17205;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.0189;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180165699;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=10,4396;ESP6500_AA_AGE=15.5+/-35.6;ESP6500_AA_GTC=0,10,2193;ESP6500_CDS_SIZES=NM_002826.4:2244,NM_001004128.2:1815;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=69,8531;ESP6500_EA_AGE=42.2+/-99.7;ESP6500_EA_GTC=1,67,4232;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002826.4:missense,NM_001004128.2:missense;ESP6500_GL=QSOX1;ESP6500_GRCh38_POSITION=1:180196564;ESP6500_GS=68,68;ESP6500_GTC=1,77,6425;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002826.4:c.1771A>C,NM_001004128.2:c.1771A>C;ESP6500_HGVS_PROTEIN_VAR=NM_002826.4:p.(N591H),NM_001004128.2:p.(N591H);ESP6500_MAF=0.8023,0.227,0.6074;ESP6500_PH=possibly-damaging:0.776,possibly-damaging:0.776;ESP6500_TAC=79,12927	GT:AD:DP:GQ:PL	0/1:36,24:60:99:660,0,934
chr1	180197429	rs74860726	C	T	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.995;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.142;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.059;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74860726;dbSNPBuildID=131;ANN=T|3_prime_UTR_variant|MODIFIER|QSOX1|QSOX1|transcript|NM_002826.4|protein_coding|12/12|c.*392C>T|||||392|,T|3_prime_UTR_variant|MODIFIER|QSOX1|QSOX1|transcript|NM_001004128.2|protein_coding|13/13|c.*88C>T|||||88|,T|upstream_gene_variant|MODIFIER|FLJ23867|FLJ23867|transcript|NR_026900.1|pseudogene||n.-580C>T|||||580|;p3_1000G_AA=C|||;p3_1000G_AC=177;p3_1000G_AF=0.0353435;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=15488;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0.0229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180166564;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=90,1294;ESP6500_AA_GTC=7,76,609;ESP6500_CDS_SIZES=NM_002826.4:2244,NM_001004128.2:1815;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=37;ESP6500_EA_AC=54,3128;ESP6500_EA_GTC=1,52,1538;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002826.4:utr-3,NM_001004128.2:utr-3;ESP6500_GL=QSOX1;ESP6500_GRCh38_POSITION=1:180197429;ESP6500_GTC=8,128,2147;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002826.4:c.*392C>T,NM_001004128.2:c.*88C>T;ESP6500_MAF=1.697,6.5029,3.1537;ESP6500_TAC=144,4422	GT:AD:DP:GQ:PL	0/1:20,13:33:99:357,0,499
chr1	180271617	rs3845397	C	T	700.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3845397;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|LHX4|LHX4|transcript|NM_033343.3|protein_coding|4/5|c.606+83C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|LHX4-AS1|LHX4-AS1|transcript|NR_037642.1|pseudogene|5/5|n.703G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2035;p3_1000G_AF=0.40635;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=16967;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.5288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180240752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:729,66,0
chr1	180274389	rs7536561;262225	A	G	3384.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7536561;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|LHX4|LHX4|transcript|NM_033343.3|protein_coding|6/6|c.983A>G|p.Asn328Ser|1215/1879|983/1173|328/390||,G|intron_variant|MODIFIER|LHX4-AS1|LHX4-AS1|transcript|NR_037642.1|pseudogene|1/4|n.31+262T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2135;p3_1000G_AF=0.426318;p3_1000G_AFR_AF=0.1165;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=19702;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.5487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180243524;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=903,3503;ESP6500_AA_AGE=347.7+/-309.6;ESP6500_AA_GTC=88,727,1388;ESP6500_CDS_SIZES=NM_033343.3:1173;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=224;ESP6500_EA_AC=4438,4162;ESP6500_EA_AGE=587.3+/-392.2;ESP6500_EA_GTC=1142,2154,1004;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033343.3:missense;ESP6500_GL=LHX4;ESP6500_GRCh38_POSITION=1:180274389;ESP6500_GS=46;ESP6500_GTC=1230,2881,2392;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033343.3:c.983A>G;ESP6500_HGVS_PROTEIN_VAR=NM_033343.3:p.(N328S);ESP6500_MAF=48.3953,20.4948,41.0657;ESP6500_PH=benign:0.0;ESP6500_TAC=5341,7665;CLINVAR_AF_ESP=0.4107;CLINVAR_AF_EXAC=0.48502;CLINVAR_AF_TGP=0.4263;CLINVAR_ALLELEID=249572;CLINVAR_CLNDISDB=MedGen:C2678408,OMIM:262700,Orphanet:ORPHA85442|MedGen:CN169374|MedGen:CN239342;CLINVAR_CLNDN=Pituitary_hormone_deficiency,_combined_4|not_specified|Combined_Pituitary_Hormone_Deficiency,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.180274389A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3010|UniProtKB_(protein):Q969G2#VAR_046661;CLINVAR_GENEINFO=LHX4:89884|ACBD6:84320|LHX4-AS1:100527964;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7536561	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3413,291,0
chr1	180288557	rs2254465	A	C	1894.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=1.647;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2254465;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ACBD6|ACBD6|transcript|NM_032360.3|protein_coding|7/7|c.695-40T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4767;p3_1000G_AF=0.951877;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=20339;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.9404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180257692;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4252,154;ESP6500_AA_GTC=2055,142,6;ESP6500_CDS_SIZES=NM_032360.3:849;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=21;ESP6500_EA_AC=8074,526;ESP6500_EA_GTC=3788,498,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032360.3:intron;ESP6500_GL=ACBD6;ESP6500_GRCh38_POSITION=1:180288557;ESP6500_GTC=5843,640,20;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_032360.3:c.695-40T>G;ESP6500_MAF=6.1163,3.4952,5.2284;ESP6500_TAC=12326,680	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1923,186,0
chr1	180314524	rs2764433	T	C	443.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2764433;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ACBD6|ACBD6|transcript|NM_032360.3|protein_coding|7/7|c.694+168A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4795;p3_1000G_AF=0.957468;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=15620;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.9404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180283659;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:472,39,0
chr1	180787920	rs3761904	A	G	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3761904;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|XPR1|XPR1|transcript|NM_004736.3|protein_coding|3/14|c.223+66A>G||||||,G|intron_variant|MODIFIER|XPR1|XPR1|transcript|NM_001328662.1|protein_coding|3/10|c.223+66A>G||||||,G|intron_variant|MODIFIER|XPR1|XPR1|transcript|NM_001135669.1|protein_coding|3/13|c.223+66A>G||||||,G|intron_variant|MODIFIER|XPR1|XPR1|transcript|NR_137330.1|pseudogene|3/12|n.415+66A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1339;p3_1000G_AF=0.267372;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=18685;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.3917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180757056;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:513,45,0
chr1	180787981	rs34984251	G	GT	125.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34984251;dbSNPBuildID=126;ANN=GT|intron_variant|MODIFIER|XPR1|XPR1|transcript|NM_004736.3|protein_coding|3/14|c.223+127_223+128insT||||||,GT|intron_variant|MODIFIER|XPR1|XPR1|transcript|NM_001328662.1|protein_coding|3/10|c.223+127_223+128insT||||||,GT|intron_variant|MODIFIER|XPR1|XPR1|transcript|NM_001135669.1|protein_coding|3/13|c.223+127_223+128insT||||||,GT|intron_variant|MODIFIER|XPR1|XPR1|transcript|NR_137330.1|pseudogene|3/12|n.415+127_415+128insT||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19447;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180757117;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:162,12,0
chr1	180916294	rs10732273	T	C	1516.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10732273;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|KIAA1614|KIAA1614|transcript|NM_020950.1|protein_coding|2/9|c.191T>C|p.Leu64Pro|258/4155|191/3573|64/1190||;p3_1000G_AA=C|||;p3_1000G_AC=4978;p3_1000G_AF=0.99401;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17249;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180885430;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3761,45;ESP6500_AA_GTC=1858,45,0;ESP6500_CDS_SIZES=NM_020950.1:3573;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=34;ESP6500_EA_AC=8215,3;ESP6500_EA_GTC=4106,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020950.1:missense;ESP6500_GL=KIAA1614;ESP6500_GRCh38_POSITION=1:180916294;ESP6500_GS=98;ESP6500_GTC=5964,48,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020950.1:c.191T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020950.1:p.(L64P);ESP6500_MAF=0.0365,1.1823,0.3992;ESP6500_PH=benign:0.0;ESP6500_TAC=11976,48	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1545,129,0
chr1	180928385	rs7544551	C	T	745.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7544551;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|KIAA1614|KIAA1614|transcript|NM_020950.1|protein_coding|3/8|c.1062-45C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4631;p3_1000G_AF=0.92472;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=16619;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180897521;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3076,894;ESP6500_AA_GTC=1186,704,95;ESP6500_CDS_SIZES=NM_020950.1:3573;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=118;ESP6500_EA_AC=8351,11;ESP6500_EA_GTC=4170,11,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020950.1:intron;ESP6500_GL=KIAA1614;ESP6500_GRCh38_POSITION=1:180928385;ESP6500_GTC=5356,715,95;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020950.1:c.1062-45C>T;ESP6500_MAF=0.1315,22.5189,7.3386;ESP6500_TAC=11427,905	GT:AD:DP:GQ:PL	1/1:0,23:23:69:774,69,0
chr1	180928433	rs3747958	C	T	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.737;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.058;SOR=0.948;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747958;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|KIAA1614|KIAA1614|transcript|NM_020950.1|protein_coding|4/9|c.1065C>T|p.Thr355Thr|1132/4155|1065/3573|355/1190||;p3_1000G_AA=C|||;p3_1000G_AC=1953;p3_1000G_AF=0.389976;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=16840;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.4135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180897569;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1136,2920;ESP6500_AA_GTC=167,802,1059;ESP6500_CDS_SIZES=NM_020950.1:3573;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=114;ESP6500_EA_AC=3433,4953;ESP6500_EA_GTC=709,2015,1469;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020950.1:coding-synonymous;ESP6500_GL=KIAA1614;ESP6500_GRCh38_POSITION=1:180928433;ESP6500_GTC=876,2817,2528;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020950.1:c.1065C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020950.1:p.(T355);ESP6500_MAF=40.9373,28.0079,36.7224;ESP6500_TAC=4569,7873	GT:AD:DP:GQ:PL	0/1:20,14:34:99:412,0,618
chr1	180936558	rs3795503	C	T	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.229;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=6.972;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.476;SOR=0.1;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795503;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|KIAA1614|KIAA1614|transcript|NM_020950.1|protein_coding|5/9|c.2649C>T|p.Asn883Asn|2716/4155|2649/3573|883/1190||;p3_1000G_AA=C|||;p3_1000G_AC=1446;p3_1000G_AF=0.288738;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=16039;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.3012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180905694;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=667,3347;ESP6500_AA_GTC=63,541,1403;ESP6500_CDS_SIZES=NM_020950.1:3573;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=31;ESP6500_EA_AC=2521,5791;ESP6500_EA_GTC=392,1737,2027;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020950.1:coding-synonymous;ESP6500_GL=KIAA1614;ESP6500_GRCh38_POSITION=1:180936558;ESP6500_GTC=455,2278,3430;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020950.1:c.2649C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020950.1:p.(N883);ESP6500_MAF=30.3296,16.6168,25.864;ESP6500_TAC=3188,9138	GT:AD:DP:GQ:PL	0/1:10,19:29:99:454,0,311
chr1	180944461	rs2331995	A	G	1762.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.077;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2331995;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|KIAA1614|KIAA1614|transcript|NM_020950.1|protein_coding|8/9|c.3232A>G|p.Asn1078Asp|3299/4155|3232/3573|1078/1190||;p3_1000G_AA=G|||;p3_1000G_AC=4990;p3_1000G_AF=0.996406;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=19430;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180913597;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3905,45;ESP6500_AA_GTC=1930,45,0;ESP6500_CDS_SIZES=NM_020950.1:3573;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=8309,1;ESP6500_EA_GTC=4154,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020950.1:missense;ESP6500_GL=KIAA1614;ESP6500_GRCh38_POSITION=1:180944461;ESP6500_GS=23;ESP6500_GTC=6084,46,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020950.1:c.3232A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020950.1:p.(N1078D);ESP6500_MAF=0.012,1.1392,0.3752;ESP6500_PH=benign:0.0;ESP6500_TAC=12214,46	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1791,159,0
chr1	180965625	rs201671740;rs35849727;rs567738448	CGT	C	1014.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.89;QD=30.18;SOR=0.77;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs201671740,rs35849727;dbSNPBuildID=126,137,142;ANN=C|intergenic_region|MODIFIER|KIAA1614-STX6|KIAA1614-STX6|intergenic_region|KIAA1614-STX6|||n.180965626_180965627delGT||||||;p3_1000G_AC=4314;p3_1000G_AF=0.861422;p3_1000G_AFR_AF=0.8994;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=19712;p3_1000G_EAS_AF=0.9107;p3_1000G_EUR_AF=0.7932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180934761;p3_1000G_GRCH37_REF=CGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,25:25:75:1052,75,0
chr1	180965841	rs4652544	C	T	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.29;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4652544;dbSNPBuildID=111;ANN=T|intergenic_region|MODIFIER|KIAA1614-STX6|KIAA1614-STX6|intergenic_region|KIAA1614-STX6|||n.180965841C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4314;p3_1000G_AF=0.861422;p3_1000G_AFR_AF=0.8994;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=21725;p3_1000G_EAS_AF=0.9107;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180934977;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:873,81,0
chr1	180984717	rs3747957	A	G	572.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.448;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747957;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|STX6|STX6|transcript|NM_005819.5|protein_coding|7/8|c.651T>C|p.Asn217Asn|1099/5073|651/768|217/255||,G|synonymous_variant|LOW|STX6|STX6|transcript|NM_001286210.1|protein_coding|5/6|c.348T>C|p.Asn116Asn|834/4808|348/465|116/154||;p3_1000G_AA=A|||;p3_1000G_AC=2626;p3_1000G_AF=0.524361;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=20709;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.5686;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180953853;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2130,2276;ESP6500_AA_AGE=578.0+/-384.6;ESP6500_AA_GTC=522,1086,595;ESP6500_CDS_SIZES=NM_005819.4:768;ESP6500_CG=-3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=93;ESP6500_EA_AC=5057,3543;ESP6500_EA_AGE=631.1+/-398.4;ESP6500_EA_GTC=1509,2039,752;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005819.4:coding-synonymous;ESP6500_GL=STX6;ESP6500_GRCh38_POSITION=1:180984717;ESP6500_GTC=2031,3125,1347;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005819.4:c.651T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005819.4:p.(N217);ESP6500_MAF=41.1977,48.3432,44.7409;ESP6500_TAC=7187,5819	GT:AD:DP:GQ:PL	0/1:30,27:57:99:601,0,615
chr1	181034204	rs61482628	A	AG	458.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.019;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.21;SOR=0.859;INS;HET;VARTYPE=INS;dbSNP138_ID=rs61482628;dbSNPBuildID=129;ANN=AG|sequence_feature|LOW|MR1|MR1|miscellaneous-region:Alpha-1|NM_001194999.1|protein_coding|2/6|c.67+130_67+131insG||||||,AG|sequence_feature|LOW|MR1|MR1|miscellaneous-region:Alpha-1|NM_001195035.1|protein_coding|2/4|c.67+130_67+131insG||||||,AG|sequence_feature|LOW|MR1|MR1|miscellaneous-region:Ligand-binding|NM_001195035.1|protein_coding|2/4|c.67+130_67+131insG||||||,AG|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001531.2|protein_coding|2/6|c.67+131dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001194999.1|protein_coding|2/6|c.67+131dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001195000.1|protein_coding|2/5|c.67+131dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001195035.1|protein_coding|2/4|c.67+131dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001310213.1|protein_coding|2/6|c.-263+131dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=1606;p3_1000G_AF=0.320687;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=19530;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181003340;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:18,16:34:99:496,0,572
chr1	181049100	rs2236410;129620	A	G	535.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.03;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.87;MQRankSum=-1.599;QD=11.65;ReadPosRankSum=-0.762;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236410;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|MR1|MR1|transcript|NM_001531.2|protein_coding|3/7|c.116A>G|p.His39Arg|277/7860|116/1026|39/341||,G|missense_variant|MODERATE|MR1|MR1|transcript|NM_001194999.1|protein_coding|3/7|c.116A>G|p.His39Arg|277/7725|116/891|39/296||,G|missense_variant|MODERATE|MR1|MR1|transcript|NM_001195000.1|protein_coding|3/6|c.116A>G|p.His39Arg|277/7584|116/750|39/249||,G|missense_variant|MODERATE|MR1|MR1|transcript|NM_001195035.1|protein_coding|3/5|c.116A>G|p.His39Arg|277/7479|116/645|39/214||,G|sequence_feature|LOW|MR1|MR1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001194999.1|protein_coding|3/7|c.116A>G||||||,G|sequence_feature|LOW|MR1|MR1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001195035.1|protein_coding|3/5|c.116A>G||||||,G|5_prime_UTR_variant|MODIFIER|MR1|MR1|transcript|NM_001310213.1|protein_coding|4/7|c.-98A>G|||||98|;p3_1000G_AA=A|||;p3_1000G_AC=966;p3_1000G_AF=0.192891;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=17473;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.1372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181018236;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=593,3813;ESP6500_AA_AGE=258.3+/-262.4;ESP6500_AA_GTC=44,505,1654;ESP6500_CDS_SIZES=NM_001531.2:1026,NM_001195035.1:645,NM_001195000.1:750,NM_001194999.1:891;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=50;ESP6500_EA_AC=1339,7261;ESP6500_EA_AGE=262.1+/-284.2;ESP6500_EA_GTC=97,1145,3058;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001531.2:missense,NM_001195035.1:missense,NM_001195000.1:missense,NM_001194999.1:missense;ESP6500_GL=MR1;ESP6500_GRCh38_POSITION=1:181049100;ESP6500_GS=29,29,29,29;ESP6500_GTC=141,1650,4712;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001531.2:c.116A>G,NM_001195035.1:c.116A>G,NM_001195000.1:c.116A>G,NM_001194999.1:c.116A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001531.2:p.(H39R),NM_001195035.1:p.(H39R),NM_001195000.1:p.(H39R),NM_001194999.1:p.(H39R);ESP6500_MAF=15.5698,13.4589,14.8547;ESP6500_PH=possibly-damaging:0.589,possibly-damaging:0.589,possibly-damaging:0.589,possibly-damaging:0.589;ESP6500_TAC=1932,11074;CLINVAR_AF_ESP=0.1486;CLINVAR_AF_EXAC=0.17309;CLINVAR_AF_TGP=0.1929;CLINVAR_ALLELEID=135066;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.181049100A>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q95460#VAR_045608;CLINVAR_GENEINFO=MR1:3140;CLINVAR_MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2236410	GT:AD:DP:GQ:PL	0/1:26,20:46:99:564,0,668
chr1	181049335	rs548312470	C	T	570.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.101;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=6.198;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=-0.483;SOR=2.03;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|sequence_feature|LOW|MR1|MR1|miscellaneous-region:Alpha-2|NM_001195035.1|protein_coding|3/4|c.328+23C>T||||||,T|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001531.2|protein_coding|3/6|c.328+23C>T||||||,T|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001194999.1|protein_coding|3/6|c.328+23C>T||||||,T|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001195000.1|protein_coding|3/5|c.328+23C>T||||||,T|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001195035.1|protein_coding|3/4|c.328+23C>T||||||,T|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001310213.1|protein_coding|4/6|c.115+23C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16678;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181018471;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,22:33:99:599,0,242
chr1	181053759	rs2275469	C	A	95.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275469;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001531.2|protein_coding|6/6|c.985+82C>A||||||,A|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001194999.1|protein_coding|6/6|c.850+82C>A||||||,A|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001195000.1|protein_coding|5/5|c.709+82C>A||||||,A|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001195035.1|protein_coding|4/4|c.605-1466C>A||||||,A|intron_variant|MODIFIER|MR1|MR1|transcript|NM_001310213.1|protein_coding|6/6|c.496+82C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2803;p3_1000G_AF=0.559704;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=19879;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.2843;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181022895;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:123,12,0
chr1	181055268	rs3747956	G	A	2612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=0.716;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3747956;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|MR1|MR1|transcript|NM_001531.2|protein_coding|7/7|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|MR1|MR1|transcript|NM_001194999.1|protein_coding|7/7|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|MR1|MR1|transcript|NM_001195000.1|protein_coding|6/6|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|MR1|MR1|transcript|NM_001195035.1|protein_coding|5/5|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|MR1|MR1|transcript|NM_001310213.1|protein_coding|7/7|c.*3G>A|||||3|;p3_1000G_AA=G|||;p3_1000G_AC=2616;p3_1000G_AF=0.522364;p3_1000G_AFR_AF=0.534;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=21618;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.2942;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181024404;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2318,2088;ESP6500_AA_AGE=604.4+/-390.3;ESP6500_AA_GTC=616,1086,501;ESP6500_CDS_SIZES=NM_001531.2:1026,NM_001195035.1:645,NM_001195000.1:750,NM_001194999.1:891;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=221;ESP6500_EA_AC=2513,6087;ESP6500_EA_AGE=412.5+/-350.8;ESP6500_EA_GTC=368,1777,2155;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001531.2:utr-3,NM_001195035.1:utr-3,NM_001195000.1:utr-3,NM_001194999.1:utr-3;ESP6500_GL=MR1;ESP6500_GRCh38_POSITION=1:181055268;ESP6500_GTC=984,2863,2656;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001531.2:c.*3G>A,NM_001195035.1:c.*3G>A,NM_001195000.1:c.*3G>A,NM_001194999.1:c.*3G>A;ESP6500_MAF=29.2209,47.3899,37.1444;ESP6500_TAC=4831,8175	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2641,261,0
chr1	181089177	rs3747955	G	A	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=2.45;SOR=1.447;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747955;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|IER5|IER5|transcript|NM_016545.4|protein_coding|1/1|c.275G>A|p.Arg92His|676/2342|275/984|92/327||;p3_1000G_AA=G|||;p3_1000G_AC=2220;p3_1000G_AF=0.443291;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=6443;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.3777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181058313;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=975,3037;ESP6500_AA_GTC=142,691,1173;ESP6500_CDS_SIZES=NM_016545.4:984;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=6;ESP6500_EA_AC=2425,5403;ESP6500_EA_GTC=398,1629,1887;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016545.4:missense;ESP6500_GL=IER5;ESP6500_GRCh38_POSITION=1:181089177;ESP6500_GS=29;ESP6500_GTC=540,2320,3060;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016545.4:c.275G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016545.4:p.(R92H);ESP6500_MAF=30.9785,24.3021,28.7162;ESP6500_PH=benign:0.014;ESP6500_TAC=3400,8440	GT:AD:DP:GQ:PL	0/1:4,4:8:97:97,0,107
chr1	181089482	rs1416829	C	G	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.414;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.414;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1416829;dbSNPBuildID=88;ANN=G|missense_variant|MODERATE|IER5|IER5|transcript|NM_016545.4|protein_coding|1/1|c.580C>G|p.Arg194Gly|981/2342|580/984|194/327||;p3_1000G_AA=C|||;p3_1000G_AC=2222;p3_1000G_AF=0.44369;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=5637;p3_1000G_EAS_AF=0.6012;p3_1000G_EUR_AF=0.3777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181058618;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:65:0|1:181089482_C_G:139,0,65
chr1	181089507	rs1361365	A	G	319.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.39;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1361365;dbSNPBuildID=88;ANN=G|missense_variant|MODERATE|IER5|IER5|transcript|NM_016545.4|protein_coding|1/1|c.605A>G|p.Gln202Arg|1006/2342|605/984|202/327||;p3_1000G_AA=G|||;p3_1000G_AC=4838;p3_1000G_AF=0.966054;p3_1000G_AFR_AF=0.8797;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=5504;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181058643;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:181089482_C_G:348,27,0
chr1	181715469	rs12407563	A	G	854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12407563;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|9/47|c.1225+78A>G||||||,G|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|9/46|c.1225+78A>G||||||,G|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|9/45|c.1225+78A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4188;p3_1000G_AF=0.836262;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=20703;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.83;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181684605;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:883,84,0
chr1	181717080	rs7540850	T	C	564.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7540850;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|10/47|c.1316-13T>C||||||,C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|10/46|c.1316-13T>C||||||,C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|10/45|c.1316-13T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2780;p3_1000G_AF=0.555112;p3_1000G_AFR_AF=0.2005;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=19625;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.6829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181686216;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1206,2658;ESP6500_AA_GTC=201,804,927;ESP6500_CDS_SIZES=NM_001205294.1:6756,NM_001205293.1:6942,NM_000721.3:6813;ESP6500_CG=4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=63;ESP6500_EA_AC=5967,2285;ESP6500_EA_GTC=2141,1685,300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001205294.1:intron,NM_001205293.1:intron,NM_000721.3:intron;ESP6500_GL=CACNA1E;ESP6500_GRCh38_POSITION=1:181717080;ESP6500_GTC=2342,2489,1227;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001205294.1:c.1316-13T>C,NM_001205293.1:c.1316-13T>C,NM_000721.3:c.1316-13T>C;ESP6500_MAF=27.6903,31.2112,40.7973;ESP6500_TAC=7173,4943	GT:AD:DP:GQ:PL	1/1:0,17:17:51:593,51,0
chr1	181718212	rs139092974	T	C	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.064;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=1.76;SOR=1.058;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139092974;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|12/47|c.1638+45T>C||||||,C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|12/46|c.1638+45T>C||||||,C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|12/45|c.1638+45T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=197;p3_1000G_AF=0.0393371;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18541;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181687348;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1697;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=60,3812;ESP6500_AA_GTC=0,60,1876;ESP6500_CDS_SIZES=NM_001205294.1:6756,NM_001205293.1:6942,NM_000721.3:6813;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=49;ESP6500_EA_AC=1,8269;ESP6500_EA_GTC=0,1,4134;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001205294.1:intron,NM_001205293.1:intron,NM_000721.3:intron;ESP6500_GL=CACNA1E;ESP6500_GRCh38_POSITION=1:181718212;ESP6500_GTC=0,61,6010;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001205294.1:c.1638+45T>C,NM_001205293.1:c.1638+45T>C,NM_000721.3:c.1638+45T>C;ESP6500_MAF=0.0121,1.5496,0.5024;ESP6500_TAC=61,12081	GT:AD:DP:GQ:PL	0/1:9,15:24:99:384,0,207
chr1	181732287	rs2280865	C	T	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.601;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.32;ReadPosRankSum=-1.019;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280865;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|19/47|c.2298-97C>T||||||,T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|19/46|c.2298-97C>T||||||,T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|18/45|c.2241-97C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1931;p3_1000G_AF=0.385583;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=17087;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181701423;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,12:15:80:363,0,80
chr1	181750543	rs704332	C	T	440.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs704332;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|26/47|c.3731+56C>T||||||,T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|26/46|c.3731+56C>T||||||,T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|25/45|c.3674+56C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2747;p3_1000G_AF=0.548522;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=19958;p3_1000G_EAS_AF=0.7192;p3_1000G_EUR_AF=0.5467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181719679;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=664,720;ESP6500_AA_GTC=164,336,192;ESP6500_CDS_SIZES=NM_001205294.1:6756,NM_001205293.1:6942,NM_000721.3:6813;ESP6500_CG=2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=84;ESP6500_EA_AC=1817,1365;ESP6500_EA_GTC=513,791,287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001205294.1:intron,NM_001205293.1:intron,NM_000721.3:intron;ESP6500_GL=CACNA1E;ESP6500_GRCh38_POSITION=1:181750543;ESP6500_GTC=677,1127,479;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001205294.1:c.3674+56C>T,NM_001205293.1:c.3731+56C>T,NM_000721.3:c.3731+56C>T;ESP6500_MAF=42.8975,47.9769,45.6636;ESP6500_TAC=2481,2085	GT:AD:DP:GQ:PL	1/1:0,15:15:45:469,45,0
chr1	181752129	rs2293991	C	T	1061.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.951;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.021;SOR=0.713;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293991;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|26/47|c.3732-14C>T||||||,T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|26/46|c.3732-14C>T||||||,T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|25/45|c.3675-14C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=382;p3_1000G_AF=0.076278;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=19470;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181721265;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2004;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=73,3705;ESP6500_AA_GTC=0,73,1816;ESP6500_CDS_SIZES=NM_001205294.1:6756,NM_001205293.1:6942,NM_000721.3:6813;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=156,8074;ESP6500_EA_GTC=1,154,3960;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001205294.1:intron,NM_001205293.1:intron,NM_000721.3:intron;ESP6500_GL=CACNA1E;ESP6500_GRCh38_POSITION=1:181752129;ESP6500_GTC=1,227,5776;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001205294.1:c.3675-14C>T,NM_001205293.1:c.3732-14C>T,NM_000721.3:c.3732-14C>T;ESP6500_MAF=1.8955,1.9322,1.9071;ESP6500_TAC=229,11779	GT:AD:DP:GQ:PL	0/1:23,41:64:99:1090,0,593
chr1	181758137	rs704329	G	A	1107.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.89;SOR=5.486;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs704329;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|31/47|c.4494+26G>A||||||,A|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|31/46|c.4494+26G>A||||||,A|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|30/45|c.4437+26G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1654;p3_1000G_AF=0.330272;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=18596;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181727273;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=795,3413;ESP6500_AA_GTC=88,619,1397;ESP6500_CDS_SIZES=NM_001205294.1:6756,NM_001205293.1:6942,NM_000721.3:6813;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=67;ESP6500_EA_AC=3775,4651;ESP6500_EA_GTC=845,2085,1283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001205294.1:intron,NM_001205293.1:intron,NM_000721.3:intron;ESP6500_GL=CACNA1E;ESP6500_GRCh38_POSITION=1:181758137;ESP6500_GTC=933,2704,2680;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001205294.1:c.4437+26G>A,NM_001205293.1:c.4494+26G>A,NM_000721.3:c.4494+26G>A;ESP6500_MAF=44.8018,18.8926,36.1722;ESP6500_TAC=4570,8064	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1136,93,0
chr1	181781333	rs704328	G	T	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.622;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.365;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs704328;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|38/47|c.5268-94G>T||||||,T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|38/46|c.5268-94G>T||||||,T|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|37/45|c.5211-94G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1444;p3_1000G_AF=0.288339;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=17861;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181750469;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,14:29:99:361,0,486
chr1	181783787	rs36163765;rs3830692	AAGCTT	A	1123.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=0.846;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs36163765,rs3830692;dbSNPBuildID=126,129;ANN=A|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|40/47|c.5470+11_5470+15delCTTAG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|40/46|c.5470+11_5470+15delCTTAG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|39/45|c.5413+11_5413+15delCTTAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4068;p3_1000G_AF=0.8123;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=17541;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.7565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181752923;p3_1000G_GRCH37_REF=AAGCTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=INDEL;ESP6500_AA_AC=3140,574;ESP6500_AA_GTC=1369,402,86;ESP6500_CDS_SIZES=NM_001205294.1:6756,NM_001205293.1:6942,NM_000721.3:6813;ESP6500_CG=-4.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=65;ESP6500_EA_AC=5902,1972;ESP6500_EA_GTC=2249,1404,284;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001205294.1:intron,NM_001205293.1:intron,NM_000721.3:intron;ESP6500_GL=CACNA1E;ESP6500_GRCh38_POSITION=1:181783787;ESP6500_GTC=3618,1806,370;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001205294.1:c.5413+4_5413+8del5,NM_001205293.1:c.5470+4_5470+8del5,NM_000721.3:c.5470+4_5470+8del5;ESP6500_MAF=25.0445,15.455,21.971;ESP6500_TAC=9042,2546	GT:AD:DP:GQ:PL	1/1:0,26:26:79:1161,79,0
chr1	181790521	rs704326	G	A	1209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.15;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=4.311;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.377;SOR=1.044;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs704326;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|44/48|c.5863G>A|p.Ala1955Thr|6058/15087|5863/6942|1955/2313||,A|missense_variant|MODERATE|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|44/47|c.5863G>A|p.Ala1955Thr|6058/14958|5863/6813|1955/2270||,A|missense_variant|MODERATE|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|43/46|c.5806G>A|p.Ala1936Thr|6001/14901|5806/6756|1936/2251||;p3_1000G_AA=G|||;p3_1000G_AC=1384;p3_1000G_AF=0.276358;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=18450;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.4314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181759657;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=591,3217;ESP6500_AA_GTC=55,481,1368;ESP6500_CDS_SIZES=NM_001205294.1:6756,NM_001205293.1:6942,NM_000721.3:6813;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=89;ESP6500_EA_AC=3736,4484;ESP6500_EA_GTC=850,2036,1224;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001205294.1:missense,NM_001205293.1:missense,NM_000721.3:missense;ESP6500_GL=CACNA1E;ESP6500_GRCh38_POSITION=1:181790521;ESP6500_GS=58,58,58;ESP6500_GTC=905,2517,2592;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001205294.1:c.5806G>A,NM_001205293.1:c.5863G>A,NM_000721.3:c.5863G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001205294.1:p.(A1936T),NM_001205293.1:p.(A1955T),NM_000721.3:p.(A1955T);ESP6500_MAF=45.4501,15.52,35.9744;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=4327,7701	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1238,0,779
chr1	181795124	rs375694725	G	C	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.3;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.04;SOR=1.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375694725;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205293.1|protein_coding|46/47|c.6208+80G>C||||||,C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_000721.3|protein_coding|45/46|c.6079+80G>C||||||,C|intron_variant|MODIFIER|CACNA1E|CACNA1E|transcript|NM_001205294.1|protein_coding|44/45|c.6022+80G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=126;p3_1000G_AF=0.0251597;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20331;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=181764260;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,8:22:99:246,0,457
chr1	182057678	rs12568050	G	C	1383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=4.019;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=1.45;SOR=0.988;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12568050;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ZNF648|ZNF648|transcript|NM_001009992.1|protein_coding|2/2|c.333C>G|p.Asn111Lys|541/3649|333/1707|111/568||;p3_1000G_AA=C|||;p3_1000G_AC=886;p3_1000G_AF=0.176917;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=18981;p3_1000G_EAS_AF=0.2837;p3_1000G_EUR_AF=0.1471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182026813;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=429,3977;ESP6500_AA_AGE=787.8+/-414.9;ESP6500_AA_GTC=18,393,1792;ESP6500_CDS_SIZES=NM_001009992.1:1707;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=1178,7422;ESP6500_EA_AGE=764.8+/-407.6;ESP6500_EA_GTC=82,1014,3204;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009992.1:missense;ESP6500_GL=ZNF648;ESP6500_GRCh38_POSITION=1:182057678;ESP6500_GS=94;ESP6500_GTC=100,1407,4996;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009992.1:c.333C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001009992.1:p.(N111K);ESP6500_MAF=13.6977,9.7367,12.3558;ESP6500_PH=benign:0.001;ESP6500_TAC=1607,11399	GT:AD:DP:GQ:PL	0/1:40,50:90:99:1412,0,1036
chr1	182057887	rs12564283	C	T	1059.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.22;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=0.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.208;SOR=0.747;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12564283;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|ZNF648|ZNF648|transcript|NM_001009992.1|protein_coding|2/2|c.124G>A|p.Glu42Lys|332/3649|124/1707|42/568||;p3_1000G_AA=C|||;p3_1000G_AC=880;p3_1000G_AF=0.175719;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=18447;p3_1000G_EAS_AF=0.2827;p3_1000G_EUR_AF=0.1471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182027022;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=412,3994;ESP6500_AA_AGE=197.7+/-221.8;ESP6500_AA_GTC=18,376,1809;ESP6500_CDS_SIZES=NM_001009992.1:1707;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=1176,7424;ESP6500_EA_AGE=236.9+/-269.0;ESP6500_EA_GTC=82,1012,3206;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009992.1:missense;ESP6500_GL=ZNF648;ESP6500_GRCh38_POSITION=1:182057887;ESP6500_GS=56;ESP6500_GTC=100,1388,5015;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001009992.1:c.124G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001009992.1:p.(E42K);ESP6500_MAF=13.6744,9.3509,12.2097;ESP6500_PH=benign:0.002;ESP6500_TAC=1588,11418	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1088,0,1370
chr1	182385715	rs2296520	A	G	2344.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=1.103;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296520;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GLUL|GLUL|transcript|NM_001033044.3|protein_coding|5/6|c.603+45T>C||||||,G|intron_variant|MODIFIER|GLUL|GLUL|transcript|NM_001033056.3|protein_coding|5/6|c.603+45T>C||||||,G|intron_variant|MODIFIER|GLUL|GLUL|transcript|NM_002065.6|protein_coding|6/7|c.603+45T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3384;p3_1000G_AF=0.675719;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=20554;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.5408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182354850;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3239,1167;ESP6500_AA_AGE=407.1+/-334.1;ESP6500_AA_GTC=1199,841,163;ESP6500_CDS_SIZES=NM_002065.5:1122,NM_001033056.2:1122,NM_001033044.2:1122;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=282;ESP6500_EA_AC=4438,4162;ESP6500_EA_AGE=559.6+/-387.4;ESP6500_EA_GTC=1154,2130,1016;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002065.5:intron,NM_001033056.2:intron,NM_001033044.2:intron;ESP6500_GL=GLUL;ESP6500_GRCh38_POSITION=1:182385715;ESP6500_GTC=2353,2971,1179;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002065.5:c.603+45T>C,NM_001033056.2:c.603+45T>C,NM_001033044.2:c.603+45T>C;ESP6500_MAF=48.3953,26.4866,40.9734;ESP6500_TAC=7677,5329	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2373,219,0
chr1	182385911	rs2296519	A	G	1321.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=1.949;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296519;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GLUL|GLUL|transcript|NM_001033044.3|protein_coding|4/6|c.476-24T>C||||||,G|intron_variant|MODIFIER|GLUL|GLUL|transcript|NM_001033056.3|protein_coding|4/6|c.476-24T>C||||||,G|intron_variant|MODIFIER|GLUL|GLUL|transcript|NM_002065.6|protein_coding|5/7|c.476-24T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3384;p3_1000G_AF=0.675719;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=18685;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.5408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182355046;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3223,1165;ESP6500_AA_GTC=1209,805,180;ESP6500_CDS_SIZES=NM_002065.5:1122,NM_001033056.2:1122,NM_001033044.2:1122;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=4440,4140;ESP6500_EA_GTC=1178,2084,1028;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002065.5:intron,NM_001033056.2:intron,NM_001033044.2:intron;ESP6500_GL=GLUL;ESP6500_GRCh38_POSITION=1:182385911;ESP6500_GTC=2387,2889,1208;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002065.5:c.476-24T>C,NM_001033056.2:c.476-24T>C,NM_001033044.2:c.476-24T>C;ESP6500_MAF=48.2517,26.5497,40.9084;ESP6500_TAC=7663,5305	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1350,108,0
chr1	182387264	rs1058111;293949	A	G	1376.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1058111;dbSNPBuildID=94;ANN=G|synonymous_variant|LOW|GLUL|GLUL|transcript|NM_001033044.3|protein_coding|3/7|c.195T>C|p.Ser65Ser|736/7975|195/1122|65/373||,G|synonymous_variant|LOW|GLUL|GLUL|transcript|NM_001033056.3|protein_coding|3/7|c.195T>C|p.Ser65Ser|438/7677|195/1122|65/373||,G|synonymous_variant|LOW|GLUL|GLUL|transcript|NM_002065.6|protein_coding|4/8|c.195T>C|p.Ser65Ser|1092/8331|195/1122|65/373||;p3_1000G_AA=A|||;p3_1000G_AC=3384;p3_1000G_AF=0.675719;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=20033;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.5408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182356399;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3239,1167;ESP6500_AA_AGE=712.6+/-408.1;ESP6500_AA_GTC=1199,841,163;ESP6500_CDS_SIZES=NM_002065.5:1122,NM_001033056.2:1122,NM_001033044.2:1122;ESP6500_CG=-2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=94;ESP6500_EA_AC=4441,4159;ESP6500_EA_AGE=587.4+/-392.2;ESP6500_EA_GTC=1156,2129,1015;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002065.5:coding-synonymous,NM_001033056.2:coding-synonymous,NM_001033044.2:coding-synonymous;ESP6500_GL=GLUL;ESP6500_GRCh38_POSITION=1:182387264;ESP6500_GTC=2355,2970,1178;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002065.5:c.195T>C,NM_001033056.2:c.195T>C,NM_001033044.2:c.195T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002065.5:p.(S65),NM_001033056.2:p.(S65),NM_001033044.2:p.(S65);ESP6500_MAF=48.3605,26.4866,40.9503;ESP6500_TAC=7680,5326;CLINVAR_ALLELEID=277633;CLINVAR_CLNDISDB=MedGen:C1864910,OMIM:610015,Orphanet:ORPHA71278;CLINVAR_CLNDN=Glutamine_deficiency,_congenital;CLINVAR_CLNHGVS=NC_000001.11:g.182387264A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3114;CLINVAR_GENEINFO=GLUL:2752;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1058111	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1405,138,0
chr1	182399943	rs6698722	G	A	1791.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6698722;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|TEDDM1|TEDDM1|transcript|NM_172000.3|protein_coding|1/1|c.543C>T|p.Pro181Pro|674/2500|543/822|181/273||;p3_1000G_AA=A|||;p3_1000G_AC=4275;p3_1000G_AF=0.853634;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=21560;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.8171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182369078;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4082,324;ESP6500_AA_AGE=173.7+/-203.5;ESP6500_AA_GTC=1896,290,17;ESP6500_CDS_SIZES=NM_172000.3:822;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=75;ESP6500_EA_AC=6819,1781;ESP6500_EA_AGE=322.6+/-315.6;ESP6500_EA_GTC=2694,1431,175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172000.3:coding-synonymous;ESP6500_GL=TEDDM1;ESP6500_GRCh38_POSITION=1:182399943;ESP6500_GTC=4590,1721,192;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_172000.3:c.543C>T;ESP6500_HGVS_PROTEIN_VAR=NM_172000.3:p.(P181);ESP6500_MAF=20.7093,7.3536,16.1848;ESP6500_TAC=10901,2105	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1820,168,0
chr1	182400098	rs6674281	A	G	3305.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6674281;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|TEDDM1|TEDDM1|transcript|NM_172000.3|protein_coding|1/1|c.388T>C|p.Tyr130His|519/2500|388/822|130/273||;p3_1000G_AA=G|||;p3_1000G_AC=3396;p3_1000G_AF=0.678115;p3_1000G_AFR_AF=0.761;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=22039;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.5417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182369233;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3281,1125;ESP6500_AA_AGE=402.8+/-332.5;ESP6500_AA_GTC=1230,821,152;ESP6500_CDS_SIZES=NM_172000.3:822;ESP6500_CG=5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=147;ESP6500_EA_AC=4445,4155;ESP6500_EA_AGE=566.7+/-388.7;ESP6500_EA_GTC=1151,2143,1006;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_172000.3:missense;ESP6500_GL=TEDDM1;ESP6500_GRCh38_POSITION=1:182400098;ESP6500_GS=83;ESP6500_GTC=2381,2964,1158;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172000.3:c.388T>C;ESP6500_HGVS_PROTEIN_VAR=NM_172000.3:p.(Y130H);ESP6500_MAF=48.314,25.5334,40.5966;ESP6500_PH=benign:0.0;ESP6500_TAC=7726,5280	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3334,288,0
chr1	182460160	rs10572829;rs1491423420;rs57601655;rs773037891	CTG	C	1090.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=2.235;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10572829,rs57601655;dbSNPBuildID=135,144,132,151;ANN=C|intron_variant|MODIFIER|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|4/21|c.301+51_301+52delGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1128,100,0
chr1	182460593	rs266508	T	C	297.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs266508;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|4/21|c.301+460T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3980;p3_1000G_AF=0.794728;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=17201;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.6839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182429728;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:326,27,0
chr1	182521972	rs607269	A	C	328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs607269;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|9/21|c.1826-32A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3936;p3_1000G_AF=0.785942;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=19771;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.8748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182491107;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7423;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1205,179;ESP6500_AA_GTC=529,147,16;ESP6500_CDS_SIZES=NM_001137669.1:3231;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=30;ESP6500_EA_AC=2810,370;ESP6500_EA_GTC=1238,334,18;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001137669.1:intron;ESP6500_GL=RGSL1;ESP6500_GRCh38_POSITION=1:182521972;ESP6500_GTC=1767,481,34;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001137669.1:c.1826-32A>C;ESP6500_MAF=11.6352,12.9335,12.0289;ESP6500_TAC=4015,549	GT:AD:DP:GQ:PL	1/1:0,10:10:30:357,30,0
chr1	182527694	rs7535533	A	G	1071.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7535533;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|11/22|c.2047A>G|p.Ile683Val|2092/3761|2047/3231|683/1076||;p3_1000G_AA=A|||;p3_1000G_AC=1563;p3_1000G_AF=0.312101;p3_1000G_AFR_AF=0.1914;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=20402;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.3877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182496829;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=306,1078;ESP6500_AA_GTC=39,228,425;ESP6500_CDS_SIZES=NM_001137669.1:3231;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=88;ESP6500_EA_AC=1180,2002;ESP6500_EA_GTC=213,754,624;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001137669.1:missense;ESP6500_GL=RGSL1;ESP6500_GRCh38_POSITION=1:182527694;ESP6500_GS=29;ESP6500_GTC=252,982,1049;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001137669.1:c.2047A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001137669.1:p.(I683V);ESP6500_MAF=37.0836,22.1098,32.5449;ESP6500_PH=benign:0.0;ESP6500_TAC=1486,3080	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1100,96,0
chr1	182532798	rs266534	C	A	1028.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs266534;dbSNPBuildID=79;ANN=A|splice_region_variant&intron_variant|LOW|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|14/21|c.2494+7C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2673;p3_1000G_AF=0.533746;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=18261;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.6581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182501933;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=679,705;ESP6500_AA_GTC=176,327,189;ESP6500_CDS_SIZES=NM_001137669.1:3231;ESP6500_CG=1.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=89;ESP6500_EA_AC=2147,1035;ESP6500_EA_GTC=709,729,153;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001137669.1:intron;ESP6500_GL=RGSL1;ESP6500_GRCh38_POSITION=1:182532798;ESP6500_GTC=885,1056,342;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001137669.1:c.2494+7C>A;ESP6500_MAF=32.5267,49.0607,38.1078;ESP6500_TAC=2826,1740	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1057,99,0
chr1	182532898	rs266535	G	T	522.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.21;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs266535;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|14/21|c.2494+107G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3504;p3_1000G_AF=0.699681;p3_1000G_AFR_AF=0.5734;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=15086;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.8718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182502033;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:551,42,0
chr1	182540463	rs76889128	T	C	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.876;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.611;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76889128;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|15/21|c.2669+42T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=444;p3_1000G_AF=0.0886581;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=19558;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.0805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182509598;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=23,1361;ESP6500_AA_GTC=0,23,669;ESP6500_CDS_SIZES=NM_001137669.1:3231;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=69;ESP6500_EA_AC=263,2919;ESP6500_EA_GTC=13,237,1341;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001137669.1:intron;ESP6500_GL=RGSL1;ESP6500_GRCh38_POSITION=1:182540463;ESP6500_GTC=13,260,2010;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001137669.1:c.2669+42T>C;ESP6500_MAF=8.2652,1.6618,6.2637;ESP6500_TAC=286,4280	GT:AD:DP:GQ:PL	0/1:5,5:10:99:148,0,188
chr1	182540482	rs3911280	C	A	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.842;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3911280;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|15/21|c.2669+61C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2280;p3_1000G_AF=0.455272;p3_1000G_AFR_AF=0.3707;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=19212;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.5417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182509617;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5368;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:93:93,0,108
chr1	182540511	rs12749557	T	C	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=-1.465;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12749557;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|15/21|c.2669+90T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2365;p3_1000G_AF=0.472244;p3_1000G_AFR_AF=0.4289;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=18198;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.5427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182509646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:52:150,0,52
chr1	182548222	rs6657620	G	C	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.7;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.14;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.31;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6657620;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|RGSL1|RGSL1|transcript|NM_001137669.1|protein_coding|15/21|c.2670-95G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2406;p3_1000G_AF=0.480431;p3_1000G_AFR_AF=0.4289;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=21585;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.5447;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182517357;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:234,0,268
chr1	182575680	rs11807829	T	C	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.126;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11807829;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|RNASEL|RNASEL|transcript|NM_021133.3|protein_coding|6/6|c.2040-102A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1390;p3_1000G_AF=0.277556;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.3415;p3_1000G_AN=5008;p3_1000G_DP=19380;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182544815;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:57:57,0,91
chr1	182579884	rs533259	A	G	1215.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=2.774;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs533259;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|RNASEL|RNASEL|transcript|NM_021133.3|protein_coding|5/6|c.1905+1341T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4377;p3_1000G_AF=0.874002;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=19353;p3_1000G_EAS_AF=0.9544;p3_1000G_EUR_AF=0.9374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182549019;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1244,111,0
chr1	182582202	rs627928	A	C	1869.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs627928;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|RNASEL|RNASEL|transcript|NM_021133.3|protein_coding|4/7|c.1623T>G|p.Asp541Glu|1880/4241|1623/2226|541/741||;p3_1000G_AA=C|||;p3_1000G_AC=2403;p3_1000G_AF=0.479832;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=22550;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.5686;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182551337;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1451,2955;ESP6500_AA_AGE=681.5+/-404.0;ESP6500_AA_GTC=252,947,1004;ESP6500_CDS_SIZES=NM_021133.3:2226;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=167;ESP6500_EA_AC=4690,3910;ESP6500_EA_AGE=545.3+/-384.8;ESP6500_EA_GTC=1236,2218,846;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021133.3:missense;ESP6500_GL=RNASEL;ESP6500_GRCh38_POSITION=1:182582202;ESP6500_GS=45;ESP6500_GTC=1488,3165,1850;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_021133.3:c.1623T>G;ESP6500_HGVS_PROTEIN_VAR=NM_021133.3:p.(D541E);ESP6500_MAF=45.4651,32.9324,47.2167;ESP6500_PH=benign:0.0;ESP6500_TAC=6141,6865	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1898,177,0
chr1	182585422	rs486907;13006	C	T	1464.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=1.201;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs486907;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|RNASEL|RNASEL|transcript|NM_021133.3|protein_coding|2/7|c.1385G>A|p.Arg462Gln|1642/4241|1385/2226|462/741||;p3_1000G_AA=C|||;p3_1000G_AC=1155;p3_1000G_AF=0.230631;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=20473;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182554557;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=587,3819;ESP6500_AA_AGE=257.7+/-262.0;ESP6500_AA_GTC=42,503,1658;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...6041&amp%3Brs...486907|http://www.ncbi.nlm.nih.gov/omim/180435,601518|http://omim.org/entry/180435#0003;ESP6500_CDS_SIZES=NM_021133.3:2226;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=128;ESP6500_EA_AC=3065,5535;ESP6500_EA_AGE=471.5+/-368.1;ESP6500_EA_GTC=516,2033,1751;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021133.3:missense;ESP6500_GL=RNASEL;ESP6500_GRCh38_POSITION=1:182585422;ESP6500_GS=43;ESP6500_GTC=558,2536,3409;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021133.3:c.1385G>A;ESP6500_HGVS_PROTEIN_VAR=NM_021133.3:p.(R462Q);ESP6500_MAF=35.6395,13.3227,28.0793;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=3652,9354;CLINVAR_AF_ESP=0.2808;CLINVAR_AF_EXAC=0.30892;CLINVAR_AF_TGP=0.2306;CLINVAR_ALLELEID=28045;CLINVAR_CLNDN=Prostate_cancer,_susceptibility_to;CLINVAR_CLNHGVS=NC_000001.11:g.182585422C>T;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=risk_factor;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:180435.0003|UniProtKB_(protein):Q05823#VAR_012056;CLINVAR_GENEINFO=RNASEL:6041;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=486907	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1493,153,0
chr1	182586901	rs3738579	A	G	827.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738579;dbSNPBuildID=107;ANN=G|5_prime_UTR_variant|MODIFIER|RNASEL|RNASEL|transcript|NM_021133.3|protein_coding|2/7|c.-95T>C|||||95|;p3_1000G_AA=A|||;p3_1000G_AC=1138;p3_1000G_AF=0.227236;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=15760;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182556036;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:856,69,0
chr1	182600491	rs1144566	T	C	854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1144566;dbSNPBuildID=87;ANN=C|missense_variant|MODERATE|RGS16|RGS16|transcript|NM_002928.3|protein_coding|5/5|c.410A>G|p.His137Arg|564/2432|410/609|137/202||;p3_1000G_AA=C|||;p3_1000G_AC=4938;p3_1000G_AF=0.986022;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=18485;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9781;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182569626;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4318,88;ESP6500_AA_AGE=74.1+/-112.3;ESP6500_AA_GTC=2116,86,1;ESP6500_CDS_SIZES=NM_002928.3:609;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=98;ESP6500_EA_AC=8363,237;ESP6500_EA_AGE=96.6+/-158.3;ESP6500_EA_GTC=4066,231,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002928.3:missense;ESP6500_GL=RGS16;ESP6500_GRCh38_POSITION=1:182600491;ESP6500_GS=29;ESP6500_GTC=6182,317,4;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002928.3:c.410A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002928.3:p.(H137R);ESP6500_MAF=2.7558,1.9973,2.4988;ESP6500_PH=benign:0.0;ESP6500_TAC=12681,325	GT:AD:DP:GQ:PL	1/1:0,26:26:78:883,78,0
chr1	182604092	rs509476	T	C	565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs509476;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|RGS16|RGS16|transcript|NM_002928.3|protein_coding|1/4|c.44+124A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4968;p3_1000G_AF=0.992013;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=13748;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9781;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182573227;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:594,54,0
chr1	182806184	rs118178457	C	T	1154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.477;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=4.125;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.05;SOR=0.856;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs118178457;dbSNPBuildID=132;ANN=T|missense_variant|MODERATE|NPL|NPL|transcript|NM_030769.2|protein_coding|5/13|c.182C>T|p.Ser61Leu|610/2867|182/963|61/320||,T|missense_variant|MODERATE|NPL|NPL|transcript|NM_001200051.1|protein_coding|5/11|c.182C>T|p.Ser61Leu|610/1856|182/723|61/240||,T|missense_variant|MODERATE|NPL|NPL|transcript|NM_001200052.1|protein_coding|5/12|c.182C>T|p.Ser61Leu|610/2782|182/693|61/230||,T|missense_variant|MODERATE|NPL|NPL|transcript|NM_001200056.1|protein_coding|5/13|c.182C>T|p.Ser61Leu|610/1988|182/855|61/284||,T|5_prime_UTR_variant|MODIFIER|NPL|NPL|transcript|NM_001200050.1|protein_coding|3/11|c.-175C>T|||||175|;p3_1000G_AA=C|||;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20755;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182775319;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1183,0,1002
chr1	182881592	rs6677840	T	C	619.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6677840;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|DHX9|DHX9|transcript|NM_001357.4|protein_coding|24/28|c.2859T>C|p.Thr953Thr|3034/4536|2859/3813|953/1270||,C|non_coding_transcript_exon_variant|MODIFIER|DHX9|DHX9|transcript|NR_033302.1|pseudogene|25/29|n.3171T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=4931;p3_1000G_AF=0.984625;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=17967;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182850727;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3503,149;ESP6500_AA_GTC=1678,147,1;ESP6500_CDS_SIZES=NM_001357.4:3813;ESP6500_CG=-1.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=99;ESP6500_EA_AC=8162,0;ESP6500_EA_GTC=4081,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001357.4:coding-synonymous;ESP6500_GL=DHX9;ESP6500_GRCh38_POSITION=1:182881592;ESP6500_GTC=5759,147,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001357.4:c.2859T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001357.4:p.(T953);ESP6500_MAF=0.0,4.08,1.2612;ESP6500_TAC=11665,149	GT:AD:DP:GQ:PL	1/1:0,19:19:57:648,57,0
chr1	182884882	rs3130492	G	A	558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3130492;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|DHX9|DHX9|transcript|NM_001357.4|protein_coding|27/27|c.3461+69G>A||||||,A|intron_variant|MODIFIER|DHX9|DHX9|transcript|NR_033302.1|pseudogene|28/28|n.3773+69G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3926;p3_1000G_AF=0.783946;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=19171;p3_1000G_EAS_AF=0.9008;p3_1000G_EUR_AF=0.5616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182854017;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:587,51,0
chr1	182939445	rs756779893	T	G	482.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.412;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=5.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.04;SOR=0.156;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|SHCBP1L|SHCBP1L|transcript|NM_030933.2|protein_coding|4/9|c.857+22A>C||||||	GT:AD:DP:GQ:PL	0/1:15,19:34:99:511,0,399
chr1	182939467	rs202104189	AAATT	A	655.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.936;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.32;ReadPosRankSum=-1.112;SOR=0.324;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs202104189;dbSNPBuildID=137;ANN=A|frameshift_variant&splice_region_variant|HIGH|SHCBP1L|SHCBP1L|transcript|NM_030933.2|protein_coding|4/10|c.853_856delAATT|p.Asn285fs|1141/2365|853/1962|285/653||;LOF=(SHCBP1L|SHCBP1L|1|1.00);p3_1000G_AC=21;p3_1000G_AF=0.00419329;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17310;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182908602;p3_1000G_GRCH37_REF=AAATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,17:24:99:693,0,352
chr1	182951532	rs1363075370	T	G	38.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|SHCBP1L|SHCBP1L|transcript|NM_030933.2|protein_coding|1/9|c.406-65A>C||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:66,6,0
chr1	183023890	rs10911194	C	T	1528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.086;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=6.661;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.4;SOR=0.285;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10911194;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|1/28|c.174C>T|p.Ala58Ala|431/7889|174/4830|58/1609||;p3_1000G_AA=C|||;p3_1000G_AC=2602;p3_1000G_AF=0.519569;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=11827;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182993025;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5992;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1571,2835;ESP6500_AA_AGE=469.6+/-355.5;ESP6500_AA_GTC=304,963,936;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=4679,3921;ESP6500_EA_AGE=588.7+/-392.4;ESP6500_EA_GTC=1223,2233,844;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:coding-synonymous;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183023890;ESP6500_GTC=1527,3196,1780;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.174C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002293.3:p.(A58);ESP6500_MAF=45.593,35.6559,48.0547;ESP6500_TAC=6250,6756	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1557,0,1433
chr1	183103455	rs2296288	T	C	1153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.086;SOR=0.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296288;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|2/28|c.546T>C|p.Cys182Cys|803/7889|546/4830|182/1609||;p3_1000G_AA=C|||;p3_1000G_AC=2664;p3_1000G_AF=0.531949;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=19406;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5646;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183072590;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1657,2749;ESP6500_AA_AGE=658.8+/-400.5;ESP6500_AA_GTC=337,983,883;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=4913,3687;ESP6500_EA_AGE=528.5+/-381.4;ESP6500_EA_GTC=1352,2209,739;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:coding-synonymous;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183103455;ESP6500_GTC=1689,3192,1622;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.546T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002293.3:p.(C182);ESP6500_MAF=42.8721,37.6078,49.4849;ESP6500_TAC=6570,6436	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1182,0,1041
chr1	183108480	rs3765521	C	T	472.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.254;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.51;ReadPosRankSum=-0.908;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765521;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|3/27|c.854+74C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2530;p3_1000G_AF=0.505192;p3_1000G_AFR_AF=0.2398;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=20879;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183077615;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,13:21:99:0|1:183108480_C_T:501,0,481
chr1	183108483	rs3765522	C	T	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.96;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.59;ReadPosRankSum=-0.815;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765522;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|3/27|c.854+77C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=20905;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.5626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183077618;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,12:20:99:0|1:183108480_C_T:480,0,484
chr1	183110718	rs6672093	T	C	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.479;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6672093;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|4/27|c.1021+64T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2529;p3_1000G_AF=0.504992;p3_1000G_AFR_AF=0.2398;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=19676;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183079853;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:266,0,185
chr1	183115472	rs3736888	A	G	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.19;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736888;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|5/27|c.1211-48A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2656;p3_1000G_AF=0.530351;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=20996;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183084607;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=93,4313;ESP6500_AA_GTC=14,65,2124;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=364,8236;ESP6500_EA_GTC=46,272,3982;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:intron;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183115472;ESP6500_GTC=60,337,6106;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.1211-48A>G;ESP6500_MAF=4.2326,2.1108,3.5138;ESP6500_TAC=457,12549	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,7:25:99:0|1:183115472_A_G:240,0,798
chr1	183115473	rs2027082	C	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.19;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2027082;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|5/27|c.1211-47C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2656;p3_1000G_AF=0.530351;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=21011;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183084608;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=151,4255;ESP6500_AA_GTC=44,63,2096;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=70;ESP6500_EA_AC=478,8122;ESP6500_EA_GTC=108,262,3930;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:intron;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183115473;ESP6500_GTC=152,325,6026;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.1211-47C>A;ESP6500_MAF=5.5581,3.4271,4.8362;ESP6500_TAC=629,12377	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,7:25:99:0|1:183115472_A_G:240,0,798
chr1	183116561	rs6424888	A	G	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.063;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6424888;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|6/27|c.1329-16A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2655;p3_1000G_AF=0.530152;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=20385;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183085696;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1647,2759;ESP6500_AA_AGE=497.7+/-363.9;ESP6500_AA_GTC=334,979,890;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=116;ESP6500_EA_AC=4897,3703;ESP6500_EA_AGE=619.4+/-396.9;ESP6500_EA_GTC=1352,2193,755;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:intron;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183116561;ESP6500_GTC=1686,3172,1645;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.1329-16A>G;ESP6500_MAF=43.0581,37.3808,49.6848;ESP6500_TAC=6544,6462	GT:AD:DP:GQ:PL	0/1:15,10:25:99:268,0,419
chr1	183116620	rs20563	A	G	650.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.328;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.131;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.353;SOR=0.507;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs20563;dbSNPBuildID=67;ANN=G|missense_variant|MODERATE|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|7/28|c.1372A>G|p.Ile458Val|1629/7889|1372/4830|458/1609||;p3_1000G_AA=G|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=19531;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183085755;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1650,2756;ESP6500_AA_AGE=659.4+/-400.6;ESP6500_AA_GTC=334,982,887;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-4.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_67;ESP6500_DP=197;ESP6500_EA_AC=4898,3702;ESP6500_EA_AGE=529.7+/-381.6;ESP6500_EA_GTC=1352,2194,754;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002293.3:missense;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183116620;ESP6500_GS=29;ESP6500_GTC=1686,3176,1641;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.1372A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002293.3:p.(I458V);ESP6500_MAF=43.0465,37.4489,49.654;ESP6500_PH=benign:0.0;ESP6500_TAC=6548,6458	GT:AD:DP:GQ:PL	0/1:23,28:51:99:679,0,497
chr1	183117622	rs2296292	A	C	1742.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=3.288;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.895;SOR=0.872;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296292;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|10/28|c.1776A>C|p.Ala592Ala|2033/7889|1776/4830|592/1609||;p3_1000G_AA=A|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=21081;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183086757;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1651,2755;ESP6500_AA_AGE=504.1+/-365.7;ESP6500_AA_GTC=334,983,886;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=119;ESP6500_EA_AC=4898,3702;ESP6500_EA_AGE=619.9+/-397.0;ESP6500_EA_GTC=1352,2194,754;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:coding-synonymous;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183117622;ESP6500_GTC=1686,3177,1640;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.1776A>C;ESP6500_HGVS_PROTEIN_VAR=NM_002293.3:p.(A592);ESP6500_MAF=43.0465,37.4716,49.6463;ESP6500_TAC=6549,6457	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1771,0,1417
chr1	183121616	rs2333621	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.12;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2333621;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|11/27|c.1991-107A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=16833;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183090751;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:229,0,158
chr1	183124740	rs20557	T	C	964.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=5.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=-0.852;SOR=0.388;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs20557;dbSNPBuildID=67;ANN=C|synonymous_variant|LOW|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|14/28|c.2511T>C|p.Asn837Asn|2768/7889|2511/4830|837/1609||;p3_1000G_AA=C|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=20434;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183093875;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1650,2756;ESP6500_AA_AGE=659.6+/-400.6;ESP6500_AA_GTC=334,982,887;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_67;ESP6500_DP=111;ESP6500_EA_AC=4898,3702;ESP6500_EA_AGE=529.7+/-381.6;ESP6500_EA_GTC=1352,2194,754;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:coding-synonymous;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183124740;ESP6500_GTC=1686,3176,1641;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.2511T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002293.3:p.(N837);ESP6500_MAF=43.0465,37.4489,49.654;ESP6500_TAC=6548,6458	GT:AD:DP:GQ:PL	0/1:22,35:57:99:993,0,489
chr1	183125412	rs20558	T	C	581.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.725;SOR=0.638;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs20558;dbSNPBuildID=67;ANN=C|missense_variant|MODERATE|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|15/28|c.2663T>C|p.Leu888Pro|2920/7889|2663/4830|888/1609||;p3_1000G_AA=C|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=17798;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183094547;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1650,2756;ESP6500_AA_AGE=659.6+/-400.6;ESP6500_AA_GTC=334,982,887;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=5.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_67;ESP6500_DP=120;ESP6500_EA_AC=4898,3702;ESP6500_EA_AGE=529.7+/-381.6;ESP6500_EA_GTC=1352,2194,754;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002293.3:missense;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183125412;ESP6500_GS=98;ESP6500_GTC=1686,3176,1641;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.2663T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002293.3:p.(L888P);ESP6500_MAF=43.0465,37.4489,49.654;ESP6500_PH=benign:0.0;ESP6500_TAC=6548,6458	GT:AD:DP:GQ:PL	0/1:19,24:43:99:610,0,430
chr1	183125667	rs10797850	G	A	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.44;ReadPosRankSum=-0.674;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10797850;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|15/27|c.2801+117G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1685;p3_1000G_AF=0.336462;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=19174;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183094802;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:29:102,0,29
chr1	183126050	rs398049833;rs55856623;rs571023420	TAA	T	86.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.797;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=0;SOR=0.473;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs55856623;dbSNPBuildID=135,142,138;ANN=T|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|15/27|c.2802-57_2802-56delAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:6,5:11:99:124,0,236
chr1	183126099	rs1886501	A	G	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.115;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.882;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1886501;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|15/27|c.2802-21A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=18753;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183095234;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1650,2756;ESP6500_AA_AGE=501.0+/-364.9;ESP6500_AA_GTC=334,982,887;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=41;ESP6500_EA_AC=4897,3703;ESP6500_EA_AGE=614.9+/-396.3;ESP6500_EA_GTC=1352,2193,755;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:intron;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183126099;ESP6500_GTC=1686,3175,1642;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.2802-21A>G;ESP6500_MAF=43.0581,37.4489,49.6617;ESP6500_TAC=6547,6459	GT:AD:DP:GQ:PL	0/1:10,11:21:99:265,0,269
chr1	183126342	rs2296293	G	A	573.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.222;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.07;ReadPosRankSum=0.284;SOR=1.708;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296293;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|16/27|c.2944+80G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=20770;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183095477;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,21:26:98:602,0,98
chr1	183127118	rs3066017;rs3831073	T	TATA	31.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.53;ReadPosRankSum=-0.366;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3066017,rs3831073;dbSNPBuildID=102,107;ANN=TATA|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|16/27|c.2945-106_2945-105insAAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=22014;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183096253;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,2:7:69:69,0,258
chr1	183128821	rs113559578;rs34133998;rs71127335	G	GTTA	40.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.431;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71127335,rs34133998,rs113559578;dbSNPBuildID=126,132,130;ANN=GTTA|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|18/27|c.3280+72_3280+74dupTTA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2662;p3_1000G_AF=0.53155;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=16641;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183097956;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,2:4:71:78,0,71
chr1	183130245	rs1360704	T	C	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.328;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1360704;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|18/27|c.3281-99T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1689;p3_1000G_AF=0.33726;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=19006;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183099380;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:103,0,129
chr1	183130566	rs2296300	G	A	343.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.084;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=3.067;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-0.723;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296300;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|19/27|c.3486+17G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=17279;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183099701;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1651,2755;ESP6500_AA_AGE=502.5+/-365.3;ESP6500_AA_GTC=334,983,886;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=37;ESP6500_EA_AC=4897,3703;ESP6500_EA_AGE=617.9+/-396.7;ESP6500_EA_GTC=1351,2195,754;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:intron;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183130566;ESP6500_GTC=1685,3178,1640;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.3486+17G>A;ESP6500_MAF=43.0581,37.4716,49.654;ESP6500_TAC=6548,6458	GT:AD:DP:GQ:PL	0/1:9,13:22:99:372,0,309
chr1	183131420	rs2333620	T	C	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.061;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.859;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2333620;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3566+42T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2659;p3_1000G_AF=0.53095;p3_1000G_AFR_AF=0.3298;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=9906;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183100555;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1649,2757;ESP6500_AA_AGE=659.6+/-400.6;ESP6500_AA_GTC=333,983,887;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=66;ESP6500_EA_AC=4897,3703;ESP6500_EA_AGE=529.2+/-381.5;ESP6500_EA_GTC=1351,2195,754;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:intron;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183131420;ESP6500_GTC=1684,3178,1641;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.3566+42T>C;ESP6500_MAF=43.0581,37.4262,49.6694;ESP6500_TAC=6546,6460	GT:AD:DP:GQ:PL	0/1:20,12:32:99:422,0,853
chr1	183131427	rs55857017	G	GT	198.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=0.606;SOR=1.179;INS;HET;VARTYPE=INS;dbSNPBuildID=129;ANN=GT|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3566+49_3566+50insT||||||	GT:AD:DP:GQ:PL	0/1:18,7:25:99:236,0,835
chr1	183131428	rs55951405	G	GGT	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.252;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.71;ReadPosRankSum=-0.878;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs55951405;dbSNPBuildID=129;ANN=GGT|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3566+81_3566+82dupGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2466;p3_1000G_AF=0.492412;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=11914;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.3151;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183100563;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,7:9:31:213,0,31
chr1	183131461	rs2333619	A	G	183.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-2.417;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368446972,rs2333619;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3566+83A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2658;p3_1000G_AF=0.530751;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=10723;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183100596;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:212,0,592
chr1	183131463	rs4047797	T	G	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-2.076;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370876071,rs4047797;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3566+85T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2633;p3_1000G_AF=0.525759;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=10542;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183100598;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,5:18:99:213,0,591
chr1	183132292	rs148796825;rs539051611;rs71127337;rs72219850	AAAT	A	43.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.967;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71127337,rs148796825,rs72219850;dbSNPBuildID=134,137,130,142;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3567-81_3567-79delTAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2739;p3_1000G_AF=0.546925;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=20216;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183101427;p3_1000G_GRCH37_REF=AAAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,2:3:81:0|1:183132292_AAAT_A:81,0,112
chr1	183132309	rs12071514	A	C	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.25;ReadPosRankSum=1.47;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12071514;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3567-91A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2739;p3_1000G_AF=0.546925;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=14439;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183101444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:99:0|1:183132292_AAAT_A:156,0,346
chr1	183132316	rs12066735	T	G	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.411;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12066735;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3567-84T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1716;p3_1000G_AF=0.342652;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=15030;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183101451;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,6:10:99:0|1:183132292_AAAT_A:240,0,340
chr1	183132336	rs12061219	G	A	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.411;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=1.94;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12061219;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|20/27|c.3567-64G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2662;p3_1000G_AF=0.53155;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=16201;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183101471;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,6:12:99:0|1:183132292_AAAT_A:234,0,402
chr1	183132551	rs12095664	G	A	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.287;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=-0.493;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12095664;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|21/27|c.3704+14G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=16299;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183101686;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1649,2757;ESP6500_AA_AGE=657.1+/-400.2;ESP6500_AA_GTC=334,981,888;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=2.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=94;ESP6500_EA_AC=4895,3705;ESP6500_EA_AGE=525.9+/-380.8;ESP6500_EA_GTC=1352,2191,757;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:intron;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183132551;ESP6500_GTC=1686,3172,1645;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.3704+14G>A;ESP6500_MAF=43.0814,37.4262,49.6848;ESP6500_TAC=6544,6462	GT:AD:DP:GQ:PL	0/1:2,8:10:55:270,0,55
chr1	183134878	rs2296299	G	A	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.632;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=8.141;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-1.837;SOR=1.753;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296299;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|23/27|c.3999+69G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2153;p3_1000G_AF=0.429912;p3_1000G_AFR_AF=0.3729;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=18824;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.4573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183104013;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:167,0,225
chr1	183135205	rs35182436;rs535605665	AT	A	244.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.527;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=6.107;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.607;SOR=0.049;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35182436;dbSNPBuildID=126,142;ANN=A|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|24/27|c.4114+60delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:7,12:19:99:282,0,139
chr1	183136264	rs2296296	C	G	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=1.28;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2296296;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|24/27|c.4115-122C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=18447;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.5507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183105399;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:69:69,0,146
chr1	183136399	rs20560	T	C	1038.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=1.751;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs20560;dbSNPBuildID=102;ANN=C|synonymous_variant|LOW|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|25/28|c.4128T>C|p.Arg1376Arg|4385/7889|4128/4830|1376/1609||;p3_1000G_AA=C|||;p3_1000G_AC=2807;p3_1000G_AF=0.560503;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=17304;p3_1000G_EAS_AF=0.625;p3_1000G_EUR_AF=0.5666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183105534;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5787;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2117,2289;ESP6500_AA_AGE=596.5+/-388.7;ESP6500_AA_GTC=529,1059,615;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-11.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_67;ESP6500_DP=67;ESP6500_EA_AC=4905,3695;ESP6500_EA_AGE=525.3+/-380.7;ESP6500_EA_GTC=1362,2181,757;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:coding-synonymous;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183136399;ESP6500_GTC=1891,3240,1372;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.4128T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002293.3:p.(R1376);ESP6500_MAF=42.9651,48.0481,46.0095;ESP6500_TAC=7022,5984	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1067,99,0
chr1	183136570	rs20561	G	A	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.226;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.526;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.459;SOR=0.245;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs20561;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|LAMC1|LAMC1|transcript|NM_002293.3|protein_coding|25/28|c.4299G>A|p.Ala1433Ala|4556/7889|4299/4830|1433/1609||;p3_1000G_AA=G|||;p3_1000G_AC=1762;p3_1000G_AF=0.351837;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=16519;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.4433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183105705;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=954,3452;ESP6500_AA_AGE=345.1+/-308.4;ESP6500_AA_GTC=98,758,1347;ESP6500_CDS_SIZES=NM_002293.3:4830;ESP6500_CG=-1.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_67;ESP6500_DP=54;ESP6500_EA_AC=3712,4888;ESP6500_EA_AGE=509.6+/-377.3;ESP6500_EA_GTC=798,2116,1386;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002293.3:coding-synonymous;ESP6500_GL=LAMC1;ESP6500_GRCh38_POSITION=1:183136570;ESP6500_GTC=896,2874,2733;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002293.3:c.4299G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002293.3:p.(A1433);ESP6500_MAF=43.1628,21.6523,35.8757;ESP6500_TAC=4666,8340	GT:AD:DP:GQ:PL	0/1:15,17:32:99:396,0,424
chr1	183186347	rs684527;293983	C	A	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.363;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs684527;dbSNPBuildID=83;ANN=A|5_prime_UTR_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_005562.2|protein_coding|1/23|c.-6C>A|||||6|,A|5_prime_UTR_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_018891.2|protein_coding|1/22|c.-6C>A|||||6|;p3_1000G_AA=C|||;p3_1000G_AC=1376;p3_1000G_AF=0.27476;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=11952;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.3052;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183155482;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=452,3840;ESP6500_AA_GTC=24,404,1718;ESP6500_CDS_SIZES=NM_018891.2:3336,NM_005562.2:3582;ESP6500_CG=4.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=10;ESP6500_EA_AC=2382,6102;ESP6500_EA_GTC=349,1684,2209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018891.2:utr-5,NM_005562.2:utr-5;ESP6500_GL=LAMC2;ESP6500_GRCh38_POSITION=1:183186347;ESP6500_GTC=373,2088,3927;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018891.2:c.-6C>A,NM_005562.2:c.-6C>A;ESP6500_MAF=28.0764,10.5312,22.1822;ESP6500_TAC=2834,9942;CLINVAR_AF_ESP=0.2218;CLINVAR_AF_EXAC=0.37990;CLINVAR_AF_TGP=0.2748;CLINVAR_ALLELEID=278713;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional;CLINVAR_CLNHGVS=NC_000001.11:g.183186347C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3135;CLINVAR_GENEINFO=LAMC2:3918;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=684527	GT:AD:DP:GQ:PL	0/1:7,7:14:99:208,0,211
chr1	183186565	rs6678888	C	A	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.989;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.773;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6678888;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_005562.2|protein_coding|1/22|c.79+134C>A||||||,A|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_018891.2|protein_coding|1/21|c.79+134C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1609;p3_1000G_AF=0.321286;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=18324;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183155700;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:183,0,182
chr1	183186580	rs60707856	CT	C	115.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.12;SOR=0.527;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs60707856;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_005562.2|protein_coding|1/22|c.79+150delT||||||,C|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_018891.2|protein_coding|1/21|c.79+150delT||||||;p3_1000G_AA=T|T|-|deletion;p3_1000G_AC=3065;p3_1000G_AF=0.612021;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=18497;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183155715;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:183186580_CT_C:153,0,229
chr1	183186582	rs61418038	C	A	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.464;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.231;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61418038;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_005562.2|protein_coding|1/22|c.79+151C>A||||||,A|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_018891.2|protein_coding|1/21|c.79+151C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3065;p3_1000G_AF=0.612021;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=17809;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183155717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:183186580_CT_C:153,0,229
chr1	183207835	rs11480551	G	GT	138.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.875;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-0.23;SOR=2.494;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11480551,rs34720363;dbSNPBuildID=126;ANN=GT|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_005562.2|protein_coding|1/22|c.80-31dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_018891.2|protein_coding|1/21|c.80-31dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,5:7:4:132,0,4
chr1	183208083	rs647347;259785	A	G	1551.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs647347;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_005562.2|protein_coding|2/22|c.268+14A>G||||||,G|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_018891.2|protein_coding|2/21|c.268+14A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2485;p3_1000G_AF=0.496206;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=19580;p3_1000G_EAS_AF=0.5734;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183177218;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2105,2301;ESP6500_AA_AGE=600.3+/-389.5;ESP6500_AA_GTC=493,1119,591;ESP6500_CDS_SIZES=NM_018891.2:3336,NM_005562.2:3582;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=118;ESP6500_EA_AC=3715,4885;ESP6500_EA_AGE=612.9+/-396.0;ESP6500_EA_GTC=818,2079,1403;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018891.2:intron,NM_005562.2:intron;ESP6500_GL=LAMC2;ESP6500_GRCh38_POSITION=1:183208083;ESP6500_GTC=1311,3198,1994;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018891.2:c.268+14A>G,NM_005562.2:c.268+14A>G;ESP6500_MAF=43.1977,47.7758,44.7486;ESP6500_TAC=5820,7186;CLINVAR_AF_ESP=0.4475;CLINVAR_AF_EXAC=0.47386;CLINVAR_AF_TGP=0.4962;CLINVAR_ALLELEID=249573;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.183208083A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3063;CLINVAR_GENEINFO=LAMC2:3918;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=647347	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1580,146,0
chr1	183236388	rs34154823;rs398049836;rs749781934	CAA	C	103.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=7.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.94;SOR=3.59;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34154823;dbSNPBuildID=126,144,138;ANN=C|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_005562.2|protein_coding|16/22|c.2457-55_2457-54delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LAMC2|LAMC2|transcript|NM_018891.2|protein_coding|16/21|c.2457-55_2457-54delAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3341;p3_1000G_AF=0.667133;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=15255;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183205523;p3_1000G_GRCH37_REF=CAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,3:4:5:117,0,5
chr1	183517724	rs789169	G	A	1403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs789169;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|SMG7|SMG7|transcript|NM_201569.2|protein_coding|4/23|c.216G>A|p.Leu72Leu|466/4779|216/3537|72/1178||,A|synonymous_variant|LOW|SMG7|SMG7|transcript|NM_001174061.1|protein_coding|3/22|c.90G>A|p.Leu30Leu|434/6044|90/3438|30/1145||,A|synonymous_variant|LOW|SMG7|SMG7|transcript|NM_173156.2|protein_coding|4/22|c.216G>A|p.Leu72Leu|466/5926|216/3414|72/1137||,A|synonymous_variant|LOW|SMG7|SMG7|transcript|NM_201568.2|protein_coding|4/22|c.216G>A|p.Leu72Leu|466/5788|216/3276|72/1091||;p3_1000G_AA=A|||;p3_1000G_AC=4717;p3_1000G_AF=0.941893;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=19431;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183486859;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4180,226;ESP6500_AA_AGE=136.9+/-172.8;ESP6500_AA_GTC=1984,212,7;ESP6500_CDS_SIZES=NM_201569.2:3537,NM_201568.2:3276,NM_173156.2:3414,NM_001174061.1:3438;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=160;ESP6500_EA_AC=7483,1117;ESP6500_EA_AGE=230.4+/-264.8;ESP6500_EA_GTC=3265,953,82;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201569.2:coding-synonymous,NM_201568.2:coding-synonymous,NM_173156.2:coding-synonymous,NM_001174061.1:coding-synonymous;ESP6500_GL=SMG7;ESP6500_GRCh38_POSITION=1:183517724;ESP6500_GTC=5249,1165,89;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201569.2:c.216G>A,NM_201568.2:c.216G>A,NM_173156.2:c.216G>A,NM_001174061.1:c.90G>A;ESP6500_HGVS_PROTEIN_VAR=NM_201569.2:p.(L72),NM_201568.2:p.(L72),NM_173156.2:p.(L72),NM_001174061.1:p.(L30);ESP6500_MAF=12.9884,5.1294,10.326;ESP6500_TAC=11663,1343	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1432,144,0
chr1	183533098	rs34309744;rs796659101	AT	A	363.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.639;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=-0.725;SOR=0.42;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34309744;dbSNPBuildID=126,146;ANN=A|intron_variant|MODIFIER|SMG7|SMG7|transcript|NM_201569.2|protein_coding|8/22|c.844-63delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SMG7|SMG7|transcript|NM_001174061.1|protein_coding|7/21|c.718-63delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SMG7|SMG7|transcript|NM_173156.2|protein_coding|8/21|c.844-63delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SMG7|SMG7|transcript|NM_201568.2|protein_coding|8/21|c.844-63delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TT|TTT|TT|insertion;p3_1000G_AC=854;p3_1000G_AF=0.170527;p3_1000G_AFR_AF=0.2935;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=19061;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183502233;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,13:21:99:401,0,222
chr1	183546293	rs2298083	G	A	607.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.242;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=11.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.82;SOR=2.106;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298083;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|SMG7|SMG7|transcript|NM_201569.2|protein_coding|17/23|c.2560G>A|p.Val854Ile|2810/4779|2560/3537|854/1178||,A|missense_variant|MODERATE|SMG7|SMG7|transcript|NM_001174061.1|protein_coding|16/22|c.2572G>A|p.Val858Ile|2916/6044|2572/3438|858/1145||,A|missense_variant|MODERATE|SMG7|SMG7|transcript|NM_173156.2|protein_coding|17/22|c.2698G>A|p.Val900Ile|2948/5926|2698/3414|900/1137||,A|missense_variant|MODERATE|SMG7|SMG7|transcript|NM_201568.2|protein_coding|17/22|c.2560G>A|p.Val854Ile|2810/5788|2560/3276|854/1091||;p3_1000G_AA=G|||;p3_1000G_AC=829;p3_1000G_AF=0.165535;p3_1000G_AFR_AF=0.2935;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=19170;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.0984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183515428;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1128,3278;ESP6500_AA_AGE=404.0+/-332.9;ESP6500_AA_GTC=147,834,1222;ESP6500_CDS_SIZES=NM_201569.2:3537,NM_201568.2:3276,NM_173156.2:3414,NM_001174061.1:3438;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=942,7658;ESP6500_EA_AGE=207.9+/-249.5;ESP6500_EA_GTC=51,840,3409;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201569.2:missense,NM_201568.2:missense,NM_173156.2:missense,NM_001174061.1:missense;ESP6500_GL=SMG7;ESP6500_GRCh38_POSITION=1:183546293;ESP6500_GS=29,29,29,29;ESP6500_GTC=198,1674,4631;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201569.2:c.2560G>A,NM_201568.2:c.2560G>A,NM_173156.2:c.2698G>A,NM_001174061.1:c.2572G>A;ESP6500_HGVS_PROTEIN_VAR=NM_201569.2:p.(V854I),NM_201568.2:p.(V854I),NM_173156.2:p.(V900I),NM_001174061.1:p.(V858I);ESP6500_MAF=10.9535,25.6015,15.9157;ESP6500_PH=benign:0.255,benign:0.255,benign:0.255,benign:0.255;ESP6500_TAC=2070,10936	GT:AD:DP:GQ:PL	0/1:23,24:47:99:636,0,757
chr1	183547305	rs2702182	G	A	18.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.812;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.549;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2702182;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SMG7|SMG7|transcript|NM_201569.2|protein_coding|18/22|c.2754+53G>A||||||,A|intron_variant|MODIFIER|SMG7|SMG7|transcript|NM_001174061.1|protein_coding|17/21|c.2766+53G>A||||||,A|intron_variant|MODIFIER|SMG7|SMG7|transcript|NM_173156.2|protein_coding|17/21|c.2742+968G>A||||||,A|intron_variant|MODIFIER|SMG7|SMG7|transcript|NM_201568.2|protein_coding|17/21|c.2604+968G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1648;p3_1000G_AF=0.329073;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=20811;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183516440;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:47:47,0,232
chr1	183556317	rs699244	T	G	503.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs699244;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|SMG7|SMG7|transcript|NM_201569.2|protein_coding||c.*3116T>G|||||2124|,G|downstream_gene_variant|MODIFIER|SMG7|SMG7|transcript|NM_001174061.1|protein_coding||c.*4386T>G|||||2124|,G|downstream_gene_variant|MODIFIER|SMG7|SMG7|transcript|NM_173156.2|protein_coding||c.*4386T>G|||||2124|,G|downstream_gene_variant|MODIFIER|SMG7|SMG7|transcript|NM_201568.2|protein_coding||c.*4386T>G|||||2124|,G|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_000433.3|protein_coding|14/14|c.1469-87A>C||||||,G|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_001190789.1|protein_coding|12/12|c.1226-87A>C||||||,G|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_001190794.1|protein_coding|13/13|c.1334-87A>C||||||,G|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_001127651.2|protein_coding|15/15|c.1469-87A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4645;p3_1000G_AF=0.927516;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=18579;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183525452;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:532,42,0
chr1	183565800	rs2296164	C	T	393.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296164;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_000433.3|protein_coding|9/14|c.925-21G>A||||||,T|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_001190789.1|protein_coding|7/12|c.682-21G>A||||||,T|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_001190794.1|protein_coding|8/13|c.790-21G>A||||||,T|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_001127651.2|protein_coding|10/15|c.925-21G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2392;p3_1000G_AF=0.477636;p3_1000G_AFR_AF=0.3245;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=18638;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183534935;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1560,2846;ESP6500_AA_AGE=488.7+/-361.3;ESP6500_AA_GTC=286,988,929;ESP6500_CDS_SIZES=NM_001190794.1:1446,NM_001190789.1:1338,NM_001127651.2:1581,NM_000433.3:1581;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=4021,4579;ESP6500_EA_AGE=556.6+/-386.9;ESP6500_EA_GTC=956,2109,1235;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001190794.1:intron,NM_001190789.1:intron,NM_001127651.2:intron,NM_000433.3:intron;ESP6500_GL=NCF2;ESP6500_GRCh38_POSITION=1:183565800;ESP6500_GTC=1242,3097,2164;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001190794.1:c.790-21G>A,NM_001190789.1:c.682-21G>A,NM_001127651.2:c.925-21G>A,NM_000433.3:c.925-21G>A;ESP6500_MAF=46.7558,35.4063,42.911;ESP6500_TAC=5581,7425	GT:AD:DP:GQ:PL	1/1:0,13:13:39:422,39,0
chr1	183573252	rs2274064;256116	T	C	2876.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.61;SOR=0.715;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274064;dbSNPBuildID=100;ANN=C|structural_interaction_variant|HIGH|NCF2|NCF2|interaction|1E96:B_115-B_181:NM_000433.3|protein_coding|5/15|c.542A>G||||||,C|structural_interaction_variant|HIGH|NCF2|NCF2|interaction|1WM5:A_115-A_181:NM_000433.3|protein_coding|5/15|c.542A>G||||||,C|structural_interaction_variant|HIGH|NCF2|NCF2|interaction|1E96:B_115-B_181:NM_001127651.2|protein_coding|6/16|c.542A>G||||||,C|structural_interaction_variant|HIGH|NCF2|NCF2|interaction|1WM5:A_115-A_181:NM_001127651.2|protein_coding|6/16|c.542A>G||||||,C|missense_variant|MODERATE|NCF2|NCF2|transcript|NM_000433.3|protein_coding|5/15|c.542A>G|p.Lys181Arg|817/2412|542/1581|181/526||,C|missense_variant|MODERATE|NCF2|NCF2|transcript|NM_001190794.1|protein_coding|4/14|c.407A>G|p.Lys136Arg|682/2277|407/1446|136/481||,C|missense_variant|MODERATE|NCF2|NCF2|transcript|NM_001127651.2|protein_coding|6/16|c.542A>G|p.Lys181Arg|654/2249|542/1581|181/526||,C|intron_variant|MODIFIER|NCF2|NCF2|transcript|NM_001190789.1|protein_coding|3/12|c.367-2413A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2462;p3_1000G_AF=0.491613;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=21080;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.4672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183542387;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1581,2825;ESP6500_AA_AGE=667.0+/-401.8;ESP6500_AA_GTC=294,993,916;ESP6500_CDS_SIZES=NM_001190794.1:1446,NM_001190789.1:1338,NM_001127651.2:1581,NM_000433.3:1581;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=191;ESP6500_EA_AC=4012,4588;ESP6500_EA_AGE=597.2+/-393.7;ESP6500_EA_GTC=952,2108,1240;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001190794.1:missense,NM_001190789.1:intron,NM_001127651.2:missense,NM_000433.3:missense;ESP6500_GL=NCF2;ESP6500_GRCh38_POSITION=1:183573252;ESP6500_GS=26,.,26,26;ESP6500_GTC=1246,3101,2156;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001190794.1:c.407A>G,NM_001190789.1:c.367-2413A>G,NM_001127651.2:c.542A>G,NM_000433.3:c.542A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001190794.1:p.(K136R),.,NM_001127651.2:p.(K181R),NM_000433.3:p.(K181R);ESP6500_MAF=46.6512,35.8829,43.0032;ESP6500_PH=benign:0.0,.,benign:0.0,benign:0.0;ESP6500_TAC=5593,7413;CLINVAR_AF_ESP=0.4300;CLINVAR_AF_EXAC=0.48949;CLINVAR_AF_TGP=0.4916;CLINVAR_ALLELEID=249583;CLINVAR_CLNDISDB=MedGen:C0018203,Orphanet:ORPHA379|MedGen:CN169374;CLINVAR_CLNDN=Chronic_granulomatous_disease|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.183573252T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3090|UniProtKB_(protein):P19878#VAR_018477;CLINVAR_GENEINFO=NCF2:4688;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2274064	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2905,272,0
chr1	183623281	rs2761573	G	T	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.949;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.44;ReadPosRankSum=1.05;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2761573;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|ARPC5|ARPC5|transcript|NM_001270439.1|protein_coding||c.*4251C>A|||||2912|,T|downstream_gene_variant|MODIFIER|ARPC5|ARPC5|transcript|NM_005717.3|protein_coding||c.*4251C>A|||||2912|,T|intergenic_region|MODIFIER|NCF2-ARPC5|NCF2-ARPC5|intergenic_region|NCF2-ARPC5|||n.183623281G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1853;p3_1000G_AF=0.370008;p3_1000G_AFR_AF=0.4909;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=22462;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183592416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:86:86,0,278
chr1	183623435	rs17488675	C	T	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.24;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.614;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.363;SOR=1.154;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17488675;dbSNPBuildID=123;ANN=T|downstream_gene_variant|MODIFIER|ARPC5|ARPC5|transcript|NM_001270439.1|protein_coding||c.*4097G>A|||||2758|,T|downstream_gene_variant|MODIFIER|ARPC5|ARPC5|transcript|NM_005717.3|protein_coding||c.*4097G>A|||||2758|,T|intergenic_region|MODIFIER|NCF2-ARPC5|NCF2-ARPC5|intergenic_region|NCF2-ARPC5|||n.183623435C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=968;p3_1000G_AF=0.193291;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=17810;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.3668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183592570;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,21:44:99:0|1:183623435_C_T:523,0,565
chr1	183635770	rs2767305	A	G	634.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.93;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.293;SOR=1.143;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2767305;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|ARPC5|ARPC5|transcript|NM_001270439.1|protein_coding|1/4|c.-111T>C|||||111|,G|5_prime_UTR_variant|MODIFIER|ARPC5|ARPC5|transcript|NM_005717.3|protein_coding|1/4|c.-111T>C|||||111|,G|upstream_gene_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding||c.-106388A>G|||||277|,G|upstream_gene_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding||c.-106388A>G|||||277|,G|upstream_gene_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding||c.-106388A>G|||||277|;p3_1000G_AA=G|||;p3_1000G_AC=2572;p3_1000G_AF=0.513578;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=12791;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183604905;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,21:53:99:663,0,932
chr1	183647552	rs1174656	G	A	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.814;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.184;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1174656;dbSNPBuildID=87;ANN=A|3_prime_UTR_variant|MODIFIER|APOBEC4|APOBEC4|transcript|NM_203454.2|protein_coding|2/2|c.*126C>T|||||126|,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|1/18|c.-33+11051G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|1/18|c.-143+11051G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|1/17|c.-33+11051G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1168;p3_1000G_AF=0.233227;p3_1000G_AFR_AF=0.1997;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=19188;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.3668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183616687;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,3:13:85:85,0,343
chr1	183647791	rs1174657	T	C	678.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.065;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=2.57;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1174657;dbSNPBuildID=87;ANN=C|missense_variant|MODERATE|APOBEC4|APOBEC4|transcript|NM_203454.2|protein_coding|2/2|c.991A>G|p.Lys331Glu|1263/2778|991/1104|331/367||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|1/18|c.-33+11290T>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|1/18|c.-143+11290T>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|1/17|c.-33+11290T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1854;p3_1000G_AF=0.370208;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=21494;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183616926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2068,2338;ESP6500_AA_AGE=606.6+/-390.8;ESP6500_AA_GTC=487,1094,622;ESP6500_CDS_SIZES=NM_203454.2:1104,NM_015149.3:2412;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=148;ESP6500_EA_AC=3401,5199;ESP6500_EA_AGE=640.6+/-399.6;ESP6500_EA_GTC=679,2043,1578;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_203454.2:missense,NM_015149.3:intron;ESP6500_GL=RGL1,APOBEC4;ESP6500_GRCh38_POSITION=1:183647791;ESP6500_GS=56,.;ESP6500_GTC=1166,3137,2200;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_203454.2:c.991A>G,NM_015149.3:c.-94367T>C;ESP6500_HGVS_PROTEIN_VAR=NM_203454.2:p.(K331E),.;ESP6500_MAF=39.5465,46.936,42.0498;ESP6500_PH=benign:0.0,.;ESP6500_TAC=5469,7537	GT:AD:DP:GQ:PL	0/1:16,27:43:99:707,0,412
chr1	183647970	rs1174658	A	G	896.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.55;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=1.037;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.198;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1174658;dbSNPBuildID=87;ANN=G|missense_variant|MODERATE|APOBEC4|APOBEC4|transcript|NM_203454.2|protein_coding|2/2|c.812T>C|p.Phe271Ser|1084/2778|812/1104|271/367||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|1/18|c.-33+11469A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|1/18|c.-143+11469A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|1/17|c.-33+11469A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1854;p3_1000G_AF=0.370208;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=20550;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183617105;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2068,2338;ESP6500_AA_AGE=606.4+/-390.7;ESP6500_AA_GTC=487,1094,622;ESP6500_CDS_SIZES=NM_203454.2:1104,NM_015149.3:2412;ESP6500_CG=4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=91;ESP6500_EA_AC=3401,5199;ESP6500_EA_AGE=639.9+/-399.5;ESP6500_EA_GTC=679,2043,1578;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_203454.2:missense,NM_015149.3:intron;ESP6500_GL=RGL1,APOBEC4;ESP6500_GRCh38_POSITION=1:183647970;ESP6500_GS=155,.;ESP6500_GTC=1166,3137,2200;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_203454.2:c.812T>C,NM_015149.3:c.-94188A>G;ESP6500_HGVS_PROTEIN_VAR=NM_203454.2:p.(F271S),.;ESP6500_MAF=39.5465,46.936,42.0498;ESP6500_PH=benign:0.0,.;ESP6500_TAC=5469,7537	GT:AD:DP:GQ:PL	0/1:27,30:57:99:925,0,751
chr1	183742348	rs3820689	C	T	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.063;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.844;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820689;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|2/18|c.132+59C>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|3/18|c.132+59C>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|2/17|c.132+59C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2432;p3_1000G_AF=0.485623;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=21417;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183711483;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:218,0,307
chr1	183806504	rs11579867	A	T	920.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.515;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11579867;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|3/18|c.243+19A>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|3/18|c.133-41062A>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|2/17|c.133-41062A>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297671.1|protein_coding|2/17|c.138+19A>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297672.1|protein_coding|2/16|c.138+19A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=792;p3_1000G_AF=0.158147;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=17385;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183775638;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=455,3951;ESP6500_AA_AGE=218.4+/-236.5;ESP6500_AA_GTC=22,411,1770;ESP6500_CDS_SIZES=NM_015149.3:2412;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=67;ESP6500_EA_AC=2684,5916;ESP6500_EA_AGE=430.8+/-356.6;ESP6500_EA_GTC=424,1836,2040;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015149.3:intron;ESP6500_GL=RGL1;ESP6500_GRCh38_POSITION=1:183806504;ESP6500_GTC=446,2247,3810;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015149.3:c.243+19A>T;ESP6500_MAF=31.2093,10.3268,24.135;ESP6500_TAC=3139,9867	GT:AD:DP:GQ:PL	0/1:53,38:91:99:949,0,1286
chr1	183880605	rs41263652	G	C	497.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.006;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.727;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.647;SOR=0.336;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41263652;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|5/18|c.531-11G>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|5/18|c.420-11G>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|4/17|c.420-11G>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297671.1|protein_coding|4/17|c.426-11G>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297672.1|protein_coding|4/16|c.426-11G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=534;p3_1000G_AF=0.106629;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=17250;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.1123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183849739;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=643,3763;ESP6500_AA_AGE=766.1+/-413.4;ESP6500_AA_GTC=55,533,1615;ESP6500_CDS_SIZES=NM_015149.3:2412;ESP6500_CG=2.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=86;ESP6500_EA_AC=971,7629;ESP6500_EA_AGE=774.8+/-407.7;ESP6500_EA_GTC=58,855,3387;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015149.3:intron;ESP6500_GL=RGL1;ESP6500_GRCh38_POSITION=1:183880605;ESP6500_GTC=113,1388,5002;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015149.3:c.531-11G>C;ESP6500_MAF=11.2907,14.5937,12.4097;ESP6500_TAC=1614,11392	GT:AD:DP:GQ:PL	0/1:26,19:45:99:526,0,843
chr1	183891968	.	A	G	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.78;ReadPosRankSum=1.1;SOR=0.527;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|9/18|c.1161-109A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|9/18|c.1050-109A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|8/17|c.1050-109A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297671.1|protein_coding|8/17|c.1056-109A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297672.1|protein_coding|8/16|c.1056-109A>G||||||	GT:AD:DP:GQ:PL	0/1:5,10:15:99:310,0,152
chr1	183897951	rs3814330	C	T	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.12;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.015;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.49;ReadPosRankSum=-0.511;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3814330;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|11/18|c.1335+54C>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|11/18|c.1224+54C>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|10/17|c.1224+54C>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297671.1|protein_coding|10/17|c.1230+54C>T||||||,T|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297672.1|protein_coding|10/16|c.1230+54C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1838;p3_1000G_AF=0.367013;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=16669;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183867085;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=511,873;ESP6500_AA_GTC=92,327,273;ESP6500_CDS_SIZES=NM_015149.3:2412;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=50;ESP6500_EA_AC=872,2310;ESP6500_EA_GTC=125,622,844;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015149.3:intron;ESP6500_GL=RGL1;ESP6500_GRCh38_POSITION=1:183897951;ESP6500_GTC=217,949,1117;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015149.3:c.1335+54C>T;ESP6500_MAF=27.4041,36.922,30.2891;ESP6500_TAC=1383,3183	GT:AD:DP:GQ:PL	0/1:19,7:26:99:171,0,533
chr1	183902503	rs4604659	G	A	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.967;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4604659;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|12/18|c.1423-65G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|12/18|c.1312-65G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|11/17|c.1312-65G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297671.1|protein_coding|11/17|c.1318-65G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297672.1|protein_coding|10/16|c.1231-65G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.6112;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=18030;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.5308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183871637;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=857,527;ESP6500_AA_GTC=263,331,98;ESP6500_CDS_SIZES=NM_015149.3:2412;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=126;ESP6500_EA_AC=1688,1494;ESP6500_EA_GTC=450,788,353;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015149.3:intron;ESP6500_GL=RGL1;ESP6500_GRCh38_POSITION=1:183902503;ESP6500_GTC=713,1119,451;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015149.3:c.1423-65G>A;ESP6500_MAF=46.9516,38.078,44.2619;ESP6500_TAC=2545,2021	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,4:6:39:0|1:183902503_G_A:121,0,39
chr1	183904764	rs10797920	A	G	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.385;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10797920;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|13/18|c.1456-86A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|13/18|c.1345-86A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|12/17|c.1345-86A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297671.1|protein_coding|12/17|c.1351-86A>G||||||,G|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297672.1|protein_coding|11/16|c.1264-86A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1767;p3_1000G_AF=0.352835;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=17710;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.2684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183873898;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:91:113,0,91
chr1	183907153	rs16861715	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.707;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.05;ReadPosRankSum=-0.743;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16861715;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|15/18|c.1667+52T>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|15/18|c.1556+52T>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|14/17|c.1556+52T>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297671.1|protein_coding|14/17|c.1562+52T>C||||||,C|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297672.1|protein_coding|13/16|c.1475+52T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1559;p3_1000G_AF=0.311302;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=19353;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.2684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183876287;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=584,2070;ESP6500_AA_GTC=61,462,804;ESP6500_CDS_SIZES=NM_015149.3:2412;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=23;ESP6500_EA_AC=1279,3339;ESP6500_EA_GTC=169,941,1199;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015149.3:intron;ESP6500_GL=RGL1;ESP6500_GRCh38_POSITION=1:183907153;ESP6500_GTC=230,1403,2003;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015149.3:c.1667+52T>C;ESP6500_MAF=27.696,22.0045,25.6188;ESP6500_TAC=1863,5409	GT:AD:DP:GQ:PL	0/1:11,6:17:99:114,0,320
chr1	183926044	rs4328036	G	A	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.869;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=5.743;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=0.072;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4328036;dbSNPBuildID=111;ANN=A|downstream_gene_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_001303420.1|protein_coding||c.*4185C>T|||||3618|,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_015149.4|protein_coding|18/18|c.2225-61G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297669.1|protein_coding|18/18|c.2114-61G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297670.1|protein_coding|17/17|c.2114-61G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297671.1|protein_coding|17/17|c.2120-61G>A||||||,A|intron_variant|MODIFIER|RGL1|RGL1|transcript|NM_001297672.1|protein_coding|16/16|c.2033-61G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2824;p3_1000G_AF=0.563898;p3_1000G_AFR_AF=0.5726;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=16124;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.5606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183895178;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,14:32:99:296,0,470
chr1	183945443	rs79957178	C	T	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.304;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.444;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.647;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79957178;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|COLGALT2|COLGALT2|transcript|NM_015101.3|protein_coding|9/12|c.1258G>A|p.Val420Ile|1671/5223|1258/1881|420/626||,T|missense_variant|MODERATE|COLGALT2|COLGALT2|transcript|NM_001303420.1|protein_coding|9/12|c.1258G>A|p.Val420Ile|1671/2645|1258/1665|420/554||,T|missense_variant|MODERATE|COLGALT2|COLGALT2|transcript|NM_001303421.1|protein_coding|9/12|c.898G>A|p.Val300Ile|1185/4737|898/1521|300/506||;p3_1000G_AA=C|||;p3_1000G_AC=32;p3_1000G_AF=0.00638978;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22240;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183914577;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,19:31:99:409,0,340
chr1	183951057	rs16861794	T	G	987.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.152;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=2.785;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.72;SOR=0.443;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16861794;dbSNPBuildID=123;ANN=G|synonymous_variant|LOW|COLGALT2|COLGALT2|transcript|NM_015101.3|protein_coding|8/12|c.1086A>C|p.Thr362Thr|1499/5223|1086/1881|362/626||,G|synonymous_variant|LOW|COLGALT2|COLGALT2|transcript|NM_001303420.1|protein_coding|8/12|c.1086A>C|p.Thr362Thr|1499/2645|1086/1665|362/554||,G|synonymous_variant|LOW|COLGALT2|COLGALT2|transcript|NM_001303421.1|protein_coding|8/12|c.726A>C|p.Thr242Thr|1013/4737|726/1521|242/506||;p3_1000G_AA=T|||;p3_1000G_AC=199;p3_1000G_AF=0.0397364;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=17756;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0.0308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183920191;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=196,4210;ESP6500_AA_AGE=120.8+/-158.4;ESP6500_AA_GTC=4,188,2011;ESP6500_CDS_SIZES=NM_015101.2:1881;ESP6500_CG=-7.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=262;ESP6500_EA_AC=258,8342;ESP6500_EA_AGE=100.6+/-161.9;ESP6500_EA_GTC=4,250,4046;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015101.2:coding-synonymous;ESP6500_GL=GLT25D2;ESP6500_GRCh38_POSITION=1:183951057;ESP6500_GTC=8,438,6057;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015101.2:c.1086A>C;ESP6500_HGVS_PROTEIN_VAR=NM_015101.2:p.(T362);ESP6500_MAF=3.0,4.4485,3.4907;ESP6500_TAC=454,12552	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1016,0,1100
chr1	183974955	rs2077202	A	C	24.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=0.431;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2077202;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_015101.3|protein_coding|3/11|c.492+142T>G||||||,C|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_001303420.1|protein_coding|3/11|c.492+142T>G||||||,C|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_001303421.1|protein_coding|3/11|c.132+142T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2566;p3_1000G_AF=0.51238;p3_1000G_AFR_AF=0.3691;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=18905;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.7674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183944089;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:53:53,0,197
chr1	183975310	rs2378795	C	T	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-1.495;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2378795;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_015101.3|protein_coding|2/11|c.375-96G>A||||||,T|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_001303420.1|protein_coding|2/11|c.375-96G>A||||||,T|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_001303421.1|protein_coding|2/11|c.15-96G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2560;p3_1000G_AF=0.511182;p3_1000G_AFR_AF=0.3661;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=20477;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.7664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183944444;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:102,0,186
chr1	183978623	rs3833521;rs397744515	G	GA	48.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.87;ReadPosRankSum=0.93;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3833521;dbSNPBuildID=107,138;ANN=GA|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_015101.3|protein_coding|1/11|c.264-104dupT||||||,GA|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_001303420.1|protein_coding|1/11|c.264-104dupT||||||,GA|intron_variant|MODIFIER|COLGALT2|COLGALT2|transcript|NM_001303421.1|protein_coding|1/11|c.-97-104dupT||||||	GT:AD:DP:GQ:PL	0/1:6,4:10:86:86,0,150
chr1	184694403	rs9425343	A	C	1530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9425343;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|21/21|c.2507T>G|p.Ile836Ser|2768/6680|2507/2847|836/948||,C|missense_variant|MODERATE|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|20/20|c.2459T>G|p.Ile820Ser|2720/6632|2459/2799|820/932||,C|non_coding_transcript_exon_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|21/21|n.2787T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1770;p3_1000G_AF=0.353435;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=19304;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184663537;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=423,3983;ESP6500_AA_AGE=201.8+/-224.7;ESP6500_AA_GTC=32,359,1812;ESP6500_CDS_SIZES=NM_025191.3:2799;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=42;ESP6500_EA_AC=3301,5297;ESP6500_EA_AGE=480.9+/-370.5;ESP6500_EA_GTC=665,1971,1663;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025191.3:missense;ESP6500_GL=EDEM3;ESP6500_GRCh38_POSITION=1:184694403;ESP6500_GS=142;ESP6500_GTC=697,2330,3475;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_025191.3:c.2459T>G;ESP6500_HGVS_PROTEIN_VAR=NM_025191.3:p.(I820S);ESP6500_MAF=38.3926,9.6005,28.6373;ESP6500_PH=benign:0.001;ESP6500_TAC=3724,9280	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1559,138,0
chr1	184694447	rs9425634	T	C	1490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=1.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9425634;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|21/21|c.2463A>G|p.Gln821Gln|2724/6680|2463/2847|821/948||,C|synonymous_variant|LOW|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|20/20|c.2415A>G|p.Gln805Gln|2676/6632|2415/2799|805/932||,C|non_coding_transcript_exon_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|21/21|n.2743A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2114;p3_1000G_AF=0.422125;p3_1000G_AFR_AF=0.1906;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=19518;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184663581;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1058,3342;ESP6500_AA_AGE=365.1+/-317.3;ESP6500_AA_GTC=144,770,1286;ESP6500_CDS_SIZES=NM_025191.3:2799;ESP6500_CG=-2.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=29;ESP6500_EA_AC=3817,4777;ESP6500_EA_AGE=500.2+/-375.2;ESP6500_EA_GTC=886,2045,1366;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025191.3:coding-synonymous;ESP6500_GL=EDEM3;ESP6500_GRCh38_POSITION=1:184694447;ESP6500_GTC=1030,2815,2652;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_025191.3:c.2415A>G;ESP6500_HGVS_PROTEIN_VAR=NM_025191.3:p.(Q805);ESP6500_MAF=44.4147,24.0455,37.5173;ESP6500_TAC=4875,8119	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1519,135,0
chr1	184694509	rs34236444	TA	T	896.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.765;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34236444;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|20/20|c.2438-38delT||||||,T|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|19/19|c.2390-38delT||||||,T|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|20/20|n.2718-38delT||||||;p3_1000G_AA=AAAAAA|AAAAAAA|AAAAAA|insertion;p3_1000G_AC=2173;p3_1000G_AF=0.433906;p3_1000G_AFR_AF=0.1906;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=19507;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184663643;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=INDEL;ESP6500_AA_AC=1013,3177;ESP6500_AA_GTC=163,687,1245;ESP6500_CDS_SIZES=NM_025191.3:2799;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=13;ESP6500_EA_AC=3630,4448;ESP6500_EA_GTC=927,1776,1336;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025191.3:intron;ESP6500_GL=EDEM3;ESP6500_GRCh38_POSITION=1:184694509;ESP6500_GTC=1090,2463,2581;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025191.3:c.2390-38del1;ESP6500_MAF=44.9369,24.1766,37.8464;ESP6500_TAC=4643,7625	GT:AD:DP:GQ:PL	1/1:0,30:30:90:934,90,0
chr1	184706680	rs1062994	G	A	1250.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1062994;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|18/21|c.2166C>T|p.Asn722Asn|2427/6680|2166/2847|722/948||,A|synonymous_variant|LOW|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|18/20|c.2166C>T|p.Asn722Asn|2427/6632|2166/2799|722/932||,A|non_coding_transcript_exon_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|18/21|n.2446C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1756;p3_1000G_AF=0.350639;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=16851;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184675814;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=391,4015;ESP6500_AA_AGE=197.1+/-221.3;ESP6500_AA_GTC=29,333,1841;ESP6500_CDS_SIZES=NM_025191.3:2799;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=135;ESP6500_EA_AC=3309,5291;ESP6500_EA_AGE=493.0+/-373.5;ESP6500_EA_GTC=668,1973,1659;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025191.3:coding-synonymous;ESP6500_GL=EDEM3;ESP6500_GRCh38_POSITION=1:184706680;ESP6500_GTC=697,2306,3500;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025191.3:c.2166C>T;ESP6500_HGVS_PROTEIN_VAR=NM_025191.3:p.(N722);ESP6500_MAF=38.4767,8.8743,28.4484;ESP6500_TAC=3700,9306	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1279,132,0
chr1	184708330	rs3736757	G	A	295.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3736757;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|17/21|c.1860C>T|p.Ile620Ile|2121/6680|1860/2847|620/948||,A|synonymous_variant|LOW|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|17/20|c.1860C>T|p.Ile620Ile|2121/6632|1860/2799|620/932||,A|non_coding_transcript_exon_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|17/21|n.2121C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3265;p3_1000G_AF=0.651957;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=16609;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.4761;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184677464;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6125;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3485,921;ESP6500_AA_AGE=351.3+/-311.2;ESP6500_AA_GTC=1391,703,109;ESP6500_CDS_SIZES=NM_025191.3:2799;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=4091,4507;ESP6500_EA_AGE=592.2+/-393.0;ESP6500_EA_GTC=1001,2089,1209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025191.3:coding-synonymous;ESP6500_GL=EDEM3;ESP6500_GRCh38_POSITION=1:184708330;ESP6500_GTC=2392,2792,1318;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23251661;ESP6500_HGVS_CDNA_VAR=NM_025191.3:c.1860C>T;ESP6500_HGVS_PROTEIN_VAR=NM_025191.3:p.(I620);ESP6500_MAF=47.5808,20.9033,41.741;ESP6500_TAC=7576,5428	GT:AD:DP:GQ:PL	1/1:0,10:10:30:324,30,0
chr1	184711947	rs7525074	A	G	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7525074;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|14/20|c.1537-70T>C||||||,G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|14/19|c.1537-70T>C||||||,G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|14/20|n.1798-70T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3269;p3_1000G_AF=0.652756;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=14623;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.4751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184681081;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr1	184712668	rs4651230	T	C	60.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4651230;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|13/20|c.1371-70A>G||||||,C|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|13/19|c.1371-70A>G||||||,C|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|13/20|n.1632-70A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1768;p3_1000G_AF=0.353035;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=16291;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.3698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184681802;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:88,6,0
chr1	184726437	rs10752941	C	T	485.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.7;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10752941;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|6/20|c.613-48G>A||||||,T|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|6/19|c.613-48G>A||||||,T|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|6/20|n.874-48G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3248;p3_1000G_AF=0.648562;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=18437;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.4751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184695571;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3429,975;ESP6500_AA_AGE=321.3+/-297.0;ESP6500_AA_GTC=1359,711,132;ESP6500_CDS_SIZES=NM_025191.3:2799;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=4082,4516;ESP6500_EA_AGE=572.4+/-389.7;ESP6500_EA_GTC=996,2090,1213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025191.3:intron;ESP6500_GL=EDEM3;ESP6500_GRCh38_POSITION=1:184726437;ESP6500_GTC=2355,2801,1345;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025191.3:c.613-48G>A;ESP6500_MAF=47.4762,22.139,42.232;ESP6500_TAC=7511,5491	GT:AD:DP:GQ:PL	1/1:0,14:14:42:514,42,0
chr1	184737078	rs10711907;rs397692142	GT	G	1573.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.6;SOR=0.836;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10711907;dbSNPBuildID=126,138;ANN=G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|3/20|c.306-15delA||||||,G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|3/19|c.306-15delA||||||,G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|3/20|n.567-15delA||||||;p3_1000G_AA=T|TT|T|insertion;p3_1000G_AC=3220;p3_1000G_AF=0.642971;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18775;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.4751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184706212;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=INDEL;ESP6500_AA_AC=3262,1004;ESP6500_AA_GTC=1258,746,129;ESP6500_CDS_SIZES=NM_025191.3:2799;ESP6500_CG=1.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=81;ESP6500_EA_AC=3938,4302;ESP6500_EA_GTC=960,2018,1142;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025191.3:intron;ESP6500_GL=EDEM3;ESP6500_GRCh38_POSITION=1:184737078;ESP6500_GTC=2218,2764,1271;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025191.3:c.306-15del1;ESP6500_MAF=47.7913,23.5349,42.4276;ESP6500_TAC=7200,5306	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1611,129,0
chr1	184749616	rs35957626;rs541986615;rs575668352;rs769619016	GAAA	G	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.82;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35957626;dbSNPBuildID=138,144,142,142;ANN=G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_001319960.1|protein_coding|1/20|c.159-27_159-25delTTT||||||,G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NM_025191.3|protein_coding|1/19|c.159-27_159-25delTTT||||||,G|intron_variant|MODIFIER|EDEM3|EDEM3|transcript|NR_135118.1|pseudogene|1/20|n.420-27_420-25delTTT||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0
chr1	184790867	rs570441	T	C	228.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs570441;dbSNPBuildID=83;ANN=C|downstream_gene_variant|MODIFIER|FAM129A|FAM129A|transcript|NM_052966.3|protein_coding||c.*4110A>G|||||158|,C|intergenic_region|MODIFIER|EDEM3-FAM129A|EDEM3-FAM129A|intergenic_region|EDEM3-FAM129A|||n.184790867T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2868;p3_1000G_AF=0.572684;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=20278;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.4245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184760001;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:257,18,0
chr1	184794933	rs581100	C	G	962.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=3.334;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs581100;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|FAM129A|FAM129A|transcript|NM_052966.3|protein_coding|14/14|c.*44G>C|||||44|;p3_1000G_AA=C|||;p3_1000G_AC=1858;p3_1000G_AF=0.371006;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=18204;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.3459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184764067;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=957,3449;ESP6500_AA_AGE=334.9+/-303.7;ESP6500_AA_GTC=105,747,1351;ESP6500_CDS_SIZES=NM_052966.2:2787;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=55;ESP6500_EA_AC=3247,5353;ESP6500_EA_AGE=480.7+/-370.5;ESP6500_EA_GTC=607,2033,1660;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052966.2:utr-3;ESP6500_GL=FAM129A;ESP6500_GRCh38_POSITION=1:184794933;ESP6500_GTC=712,2780,3011;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_052966.2:c.*44G>C;ESP6500_MAF=37.7558,21.7204,32.3235;ESP6500_TAC=4204,8802	GT:AD:DP:GQ:PL	1/1:0,29:29:87:991,87,0
chr1	184807945	rs338564	G	A	982.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=3.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs338564;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|FAM129A|FAM129A|transcript|NM_052966.3|protein_coding|10/13|c.1335+129C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1894;p3_1000G_AF=0.378195;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=21614;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.1799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184777079;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1011,90,0
chr1	184807967	rs338565	G	A	1103.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=3.321;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs338565;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|FAM129A|FAM129A|transcript|NM_052966.3|protein_coding|10/13|c.1335+107C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1899;p3_1000G_AF=0.379193;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=20110;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.1809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184777101;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1132,105,0
chr1	184808043	rs543912	C	A	1696.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=1.524;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs543912;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|FAM129A|FAM129A|transcript|NM_052966.3|protein_coding|10/13|c.1335+31G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1087;p3_1000G_AF=0.217053;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=16613;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.166;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184777177;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=193,4213;ESP6500_AA_AGE=121.3+/-158.8;ESP6500_AA_GTC=4,185,2014;ESP6500_CDS_SIZES=NM_052966.2:2787;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=106;ESP6500_EA_AC=1624,6976;ESP6500_EA_AGE=301.2+/-305.3;ESP6500_EA_GTC=161,1302,2837;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052966.2:intron;ESP6500_GL=FAM129A;ESP6500_GRCh38_POSITION=1:184808043;ESP6500_GTC=165,1487,4851;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_052966.2:c.1335+31G>T;ESP6500_MAF=18.8837,4.3804,13.9705;ESP6500_TAC=1817,11189	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1725,159,0
chr1	184808333	rs338566	A	T	1589.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.44;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs338566;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|FAM129A|FAM129A|transcript|NM_052966.3|protein_coding|9/13|c.1174-98T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2316;p3_1000G_AF=0.46246;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=22286;p3_1000G_EAS_AF=0.5397;p3_1000G_EUR_AF=0.2594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184777467;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1618,147,0
chr1	185091818	rs1297812496	C	CT	12.01	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.682;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.34;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs67585476,rs72146900;dbSNPBuildID=151;ANN=CT|intron_variant|MODIFIER|RNF2|RNF2|transcript|NM_007212.3|protein_coding|3/6|c.248+93dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,4:12:49:49,0,156
chr1	185125145	rs7523448	G	T	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.284;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.172;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7523448;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TRMT1L|TRMT1L|transcript|NM_030934.4|protein_coding|11/14|c.1593-35C>A||||||,T|intron_variant|MODIFIER|TRMT1L|TRMT1L|transcript|NM_001202423.1|protein_coding|11/14|c.1125-35C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1579;p3_1000G_AF=0.315296;p3_1000G_AFR_AF=0.4584;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=13185;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185094277;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1788,2466;ESP6500_AA_GTC=400,988,739;ESP6500_CDS_SIZES=NM_030934.4:2202,NM_001202423.1:1734;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=26;ESP6500_EA_AC=3052,5520;ESP6500_EA_GTC=570,1912,1804;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030934.4:intron,NM_001202423.1:intron;ESP6500_GL=TRMT1L;ESP6500_GRCh38_POSITION=1:185125145;ESP6500_GTC=970,2900,2543;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_030934.4:c.1593-35C>A,NM_001202423.1:c.1125-35C>A;ESP6500_MAF=35.6043,42.031,37.7358;ESP6500_TAC=4840,7986	GT:AD:DP:GQ:PL	0/1:6,6:12:99:159,0,184
chr1	185166613	rs950327	A	G	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.206;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.617;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs950327;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|SWT1|SWT1|transcript|NM_001105518.1|protein_coding|3/19|c.126A>G|p.Ser42Ser|240/3795|126/2703|42/900||,G|synonymous_variant|LOW|SWT1|SWT1|transcript|NM_017673.6|protein_coding|3/19|c.126A>G|p.Ser42Ser|291/3846|126/2703|42/900||;p3_1000G_AA=A|||;p3_1000G_AC=1728;p3_1000G_AF=0.345048;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=16373;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185135745;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1765,2641;ESP6500_AA_AGE=502.4+/-365.2;ESP6500_AA_GTC=352,1061,790;ESP6500_CDS_SIZES=NM_017673.6:2703,NM_001105518.1:2703;ESP6500_CG=1.9;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=63;ESP6500_EA_AC=3112,5470;ESP6500_EA_AGE=469.3+/-367.5;ESP6500_EA_GTC=578,1956,1757;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017673.6:coding-synonymous,NM_001105518.1:coding-synonymous;ESP6500_GL=SWT1;ESP6500_GRCh38_POSITION=1:185166613;ESP6500_GTC=930,3017,2547;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017673.6:c.126A>G,NM_001105518.1:c.126A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017673.6:p.(S42),NM_001105518.1:p.(S42);ESP6500_MAF=36.2619,40.059,37.55;ESP6500_TAC=4877,8111	GT:AD:DP:GQ:PL	0/1:12,13:25:99:293,0,268
chr1	185174868	rs202090523	C	T	338.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.672;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=1.01;SOR=0.597;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202090523;dbSNPBuildID=137;ANN=T|missense_variant|MODERATE|SWT1|SWT1|transcript|NM_001105518.1|protein_coding|5/19|c.721C>T|p.Arg241Cys|835/3795|721/2703|241/900||,T|missense_variant|MODERATE|SWT1|SWT1|transcript|NM_017673.6|protein_coding|5/19|c.721C>T|p.Arg241Cys|886/3846|721/2703|241/900||	GT:AD:DP:GQ:PL	0/1:10,13:23:99:367,0,265
chr1	185271342	rs12041704	A	G	90.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=0.263;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12041704;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|SWT1|SWT1|transcript|NM_001105518.1|protein_coding|17/19|c.2461A>G|p.Asn821Asp|2575/3795|2461/2703|821/900||,G|missense_variant|MODERATE|SWT1|SWT1|transcript|NM_017673.6|protein_coding|17/19|c.2461A>G|p.Asn821Asp|2626/3846|2461/2703|821/900||;p3_1000G_AA=A|||;p3_1000G_AC=1743;p3_1000G_AF=0.348043;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=13198;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.4433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185240474;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1203,3175;ESP6500_AA_AGE=380.2+/-323.6;ESP6500_AA_GTC=164,875,1150;ESP6500_CDS_SIZES=NM_017673.6:2703,NM_001105518.1:2703;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=3641,4921;ESP6500_EA_AGE=504.5+/-376.2;ESP6500_EA_GTC=786,2069,1426;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017673.6:missense,NM_001105518.1:missense;ESP6500_GL=SWT1;ESP6500_GRCh38_POSITION=1:185271342;ESP6500_GS=23,23;ESP6500_GTC=950,2944,2576;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017673.6:c.2461A>G,NM_001105518.1:c.2461A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017673.6:p.(N821D),NM_001105518.1:p.(N821D);ESP6500_MAF=42.5251,27.4783,37.4343;ESP6500_PH=possibly-damaging:0.919,possibly-damaging:0.919;ESP6500_TAC=4844,8096	GT:AD:DP:GQ:PL	0/1:10,5:15:99:119,0,226
chr1	185290599	rs2378909	A	G	12.05	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=-0.967;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2378909;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SWT1|SWT1|transcript|NM_001105518.1|protein_coding|18/18|c.2574-75A>G||||||,G|intron_variant|MODIFIER|SWT1|SWT1|transcript|NM_017673.6|protein_coding|18/18|c.2574-75A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1915;p3_1000G_AF=0.382388;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=12121;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185259731;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:28:40,0,28
chr1	185297982	rs10174	A	G	672.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.951;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.7;ReadPosRankSum=0.847;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10174;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|IVNS1ABP|IVNS1ABP|transcript|NM_006469.4|protein_coding|15/15|c.*53T>C|||||53|;p3_1000G_AA=A|||;p3_1000G_AC=2195;p3_1000G_AF=0.438299;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=19602;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185267114;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,20:31:99:701,0,261
chr1	186015385	rs6665753;294155	T	C	689.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.24;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6665753;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|31/107|c.4857T>C|p.His1619His|5086/18212|4857/16908|1619/5635||;p3_1000G_AA=T|||;p3_1000G_AC=1718;p3_1000G_AF=0.343051;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=21273;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.4781;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185984517;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=455,3951;ESP6500_AA_AGE=218.4+/-236.5;ESP6500_AA_GTC=24,407,1772;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=102;ESP6500_EA_AC=4050,4548;ESP6500_EA_AGE=557.0+/-387.0;ESP6500_EA_GTC=975,2100,1224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:coding-synonymous;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186015385;ESP6500_GTC=999,2507,2996;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.4857T>C;ESP6500_HGVS_PROTEIN_VAR=NM_031935.2:p.(H1619);ESP6500_MAF=47.104,10.3268,34.6432;ESP6500_TAC=4505,8499;CLINVAR_AF_ESP=0.3464;CLINVAR_AF_EXAC=0.42709;CLINVAR_AF_TGP=0.3431;CLINVAR_ALLELEID=277933;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLINVAR_CLNDN=Macular_degeneration;CLINVAR_CLNHGVS=NC_000001.11:g.186015385T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3104;CLINVAR_GENEINFO=HMCN1:83872;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6665753	GT:AD:DP:GQ:PL	0/1:23,28:51:99:718,0,534
chr1	186038085	rs78606652	A	G	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.242;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=-2.45;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78606652;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|37/106|c.5851+50A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=86;p3_1000G_AF=0.0171725;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15544;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186007217;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=45;ESP6500_EA_AC=2,8596;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:intron;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186038085;ESP6500_GTC=0,2,6500;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.5851+50A>G;ESP6500_MAF=0.0233,0.0,0.0154;ESP6500_TAC=2,13002	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,101
chr1	186069874	rs761905	C	T	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.619;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.35;ReadPosRankSum=0.921;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs761905;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|51/106|c.7993+98C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3262;p3_1000G_AF=0.651358;p3_1000G_AFR_AF=0.9221;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=20847;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.504;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186039006;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:55:55,0,190
chr1	186081285	rs10798035;96208	A	G	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.235;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.7;ReadPosRankSum=0;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10798035;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|56/107|c.8678A>G|p.Glu2893Gly|8907/18212|8678/16908|2893/5635||;p3_1000G_AA=A|||;p3_1000G_AC=2918;p3_1000G_AF=0.582668;p3_1000G_AFR_AF=0.6952;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=14601;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186050417;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2939,1467;ESP6500_AA_AGE=678.7+/-403.6;ESP6500_AA_GTC=1003,933,267;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=155;ESP6500_EA_AC=4279,4321;ESP6500_EA_AGE=576.2+/-390.4;ESP6500_EA_GTC=1079,2121,1100;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031935.2:missense;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186081285;ESP6500_GS=98;ESP6500_GTC=2082,3054,1367;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.8678A>G;ESP6500_HGVS_PROTEIN_VAR=NM_031935.2:p.(E2893G);ESP6500_MAF=49.7558,33.2955,44.5025;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=7218,5788;CLINVAR_ALLELEID=102102;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:CN169374;CLINVAR_CLNDN=Macular_degeneration|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.186081285A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3120|UniProtKB_(protein):Q96RW7#VAR_024814;CLINVAR_GENEINFO=HMCN1:83872;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10798035	GT:AD:DP:GQ:PL	0/1:21,6:27:99:101,0,574
chr1	186086239	rs6425017;294201	A	G	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.115;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.348;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6425017;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|57/106|c.8885-7A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3312;p3_1000G_AF=0.661342;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=17582;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.5169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186055371;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3773,631;ESP6500_AA_AGE=765.7+/-413.4;ESP6500_AA_GTC=1626,521,55;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=94;ESP6500_EA_AC=4395,4205;ESP6500_EA_AGE=583.8+/-391.6;ESP6500_EA_GTC=1144,2107,1049;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:intron;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186086239;ESP6500_GTC=2770,2628,1104;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.8885-7A>G;ESP6500_MAF=48.8953,14.3279,37.1886;ESP6500_TAC=8168,4836;CLINVAR_ALLELEID=278898;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLINVAR_CLNDN=Macular_degeneration;CLINVAR_CLNHGVS=NC_000001.11:g.186086239A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3141;CLINVAR_GENEINFO=HMCN1:83872;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6425017	GT:AD:DP:GQ:PL	0/1:3,10:13:46:246,0,46
chr1	186088049	rs10911816	T	C	1102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.67;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=0.797;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.33;SOR=0.806;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10911816;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|61/106|c.9445+36T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3438;p3_1000G_AF=0.686502;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=20839;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.5139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186057181;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3934,472;ESP6500_AA_AGE=211.5+/-231.7;ESP6500_AA_GTC=1764,406,33;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=4378,4222;ESP6500_EA_AGE=557.9+/-387.1;ESP6500_EA_GTC=1142,2094,1064;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:intron;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186088049;ESP6500_GTC=2906,2500,1097;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.9445+36T>C;ESP6500_MAF=49.093,10.7127,36.091;ESP6500_TAC=8312,4694	GT:AD:DP:GQ:PL	0/1:49,39:88:99:1131,0,1278
chr1	186112786	rs7555520	C	T	758.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.793;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=1.32;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7555520;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|71/106|c.10990-26C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3436;p3_1000G_AF=0.686102;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=21187;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.5129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186081918;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3936,470;ESP6500_AA_AGE=222.6+/-239.4;ESP6500_AA_GTC=1764,408,31;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=61;ESP6500_EA_AC=4369,4231;ESP6500_EA_AGE=570.9+/-389.4;ESP6500_EA_GTC=1130,2109,1061;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:intron;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186112786;ESP6500_GTC=2894,2517,1092;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.10990-26C>T;ESP6500_MAF=49.1977,10.6673,36.1449;ESP6500_TAC=8305,4701	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,31:50:99:0|1:186112784_G_A:787,0,516
chr1	186117446	rs10157742;294231	G	A	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.422;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.382;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10157742;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|76/106|c.11684-13G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3383;p3_1000G_AF=0.675519;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=18329;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186086578;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3915,491;ESP6500_AA_AGE=229.8+/-244.2;ESP6500_AA_GTC=1745,425,33;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=62;ESP6500_EA_AC=4313,4287;ESP6500_EA_AGE=574.5+/-390.1;ESP6500_EA_GTC=1093,2127,1080;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:intron;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186117446;ESP6500_GTC=2838,2552,1113;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.11684-13G>A;ESP6500_MAF=49.8488,11.1439,36.7369;ESP6500_TAC=8228,4778;CLINVAR_ALLELEID=279089;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLINVAR_CLNDN=Macular_degeneration;CLINVAR_CLNHGVS=NC_000001.11:g.186117446G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3150;CLINVAR_GENEINFO=HMCN1:83872;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10157742	GT:AD:DP:GQ:PL	0/1:24,22:46:99:522,0,708
chr1	186119940	rs2891230	G	A	862.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.783;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.172;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2891230;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|79/106|c.12094+58G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1890;p3_1000G_AF=0.377396;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=18496;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186089072;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:44,36:80:99:891,0,1057
chr1	186119980	rs2383434;rs553825176	T	C	693.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.069;SOR=0.547;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2383434;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|79/106|c.12095-31T>C||||||;p3_1000G_AC=2364;p3_1000G_AF=0.472045;p3_1000G_AFR_AF=0.5772;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=17083;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.3171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186089112;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP,INDEL;ESP6500_AA=T;ESP6500_AA_AC=2256,2150;ESP6500_AA_GTC=628,1000,575;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=2619,5979;ESP6500_EA_GTC=474,1671,2154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:intron;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186119980;ESP6500_GTC=1102,2671,2729;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.12095-31T>C;ESP6500_MAF=30.4606,48.7971,37.4885;ESP6500_TAC=4875,8129	GT:AD:DP:GQ:PL	0/1:34,29:63:99:722,0,937
chr1	186122944	rs2057388;294246	A	C	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.02;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.354;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-2.062;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2057388;dbSNPBuildID=94;ANN=C|splice_region_variant&intron_variant|LOW|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|80/106|c.12230-7A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3002;p3_1000G_AF=0.599441;p3_1000G_AFR_AF=0.885;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=20109;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.3559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186092076;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3514,892;ESP6500_AA_AGE=345.9+/-308.8;ESP6500_AA_GTC=1414,686,103;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=4.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=58;ESP6500_EA_AC=3108,5492;ESP6500_EA_AGE=653.2+/-401.0;ESP6500_EA_GTC=577,1954,1769;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:intron;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186122944;ESP6500_GTC=1991,2640,1872;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.12230-7A>C;ESP6500_MAF=36.1395,20.2451,49.085;ESP6500_TAC=6622,6384;CLINVAR_AF_EXAC=0.47159;CLINVAR_ALLELEID=278017;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLINVAR_CLNDN=Macular_degeneration;CLINVAR_CLNHGVS=NC_000001.11:g.186122944A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3175;CLINVAR_GENEINFO=HMCN1:83872;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2057388	GT:AD:DP:GQ:PL	0/1:21,23:44:99:654,0,519
chr1	186123408	rs6698064	A	G	568.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.12;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.516;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6698064;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|81/106|c.12499+188A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2786;p3_1000G_AF=0.55631;p3_1000G_AFR_AF=0.7723;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=19196;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186092540;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,19:35:99:597,0,454
chr1	186132407	rs10911825;294262	A	G	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.553;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.933;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=0.852;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10911825;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|86/107|c.13310A>G|p.Gln4437Arg|13539/18212|13310/16908|4437/5635||;p3_1000G_AA=A|||;p3_1000G_AC=2426;p3_1000G_AF=0.484425;p3_1000G_AFR_AF=0.6498;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=17276;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186101539;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2553,1853;ESP6500_AA_AGE=618.3+/-393.1;ESP6500_AA_GTC=774,1005,424;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=77;ESP6500_EA_AC=2258,6340;ESP6500_EA_AGE=370.6+/-335.9;ESP6500_EA_GTC=308,1642,2349;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031935.2:missense;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186132407;ESP6500_GS=43;ESP6500_GTC=1082,2647,2773;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.13310A>G;ESP6500_HGVS_PROTEIN_VAR=NM_031935.2:p.(Q4437R);ESP6500_MAF=26.2619,42.0563,36.9963;ESP6500_PH=possibly-damaging:0.735;ESP6500_TAC=4811,8193;CLINVAR_AF_ESP=0.3700;CLINVAR_AF_EXAC=0.40824;CLINVAR_AF_TGP=0.4844;CLINVAR_ALLELEID=278022;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437;CLINVAR_CLNDN=Macular_degeneration;CLINVAR_CLNHGVS=NC_000001.11:g.186132407A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3360|UniProtKB_(protein):Q96RW7#VAR_049877;CLINVAR_GENEINFO=HMCN1:83872;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10911825	GT:AD:DP:GQ:PL	0/1:3,13:16:65:327,0,65
chr1	186145311	rs5779272;rs796798036	CT	C	154.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.332;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-2.251;SOR=1.802;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5779272;dbSNPBuildID=134,146;ANN=C|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|91/106|c.14267-83delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,8:16:99:192,0,184
chr1	186172169	rs4651302	G	A	642.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.233;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.839;SOR=0.337;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4651302;dbSNPBuildID=111;ANN=A|sequence_feature|LOW|HMCN1|HMCN1|domain:EGF-like_5|NM_031935.2|protein_coding|102/106|c.15814+38G>A||||||,A|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|102/106|c.15814+38G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3283;p3_1000G_AF=0.655551;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=18005;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186141301;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3845,561;ESP6500_AA_AGE=253.7+/-259.5;ESP6500_AA_GTC=1684,477,42;ESP6500_CDS_SIZES=NM_031935.2:16908;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=128;ESP6500_EA_AC=3827,4773;ESP6500_EA_AGE=611.3+/-395.8;ESP6500_EA_GTC=866,2095,1339;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031935.2:intron;ESP6500_GL=HMCN1;ESP6500_GRCh38_POSITION=1:186172169;ESP6500_GTC=2550,2572,1381;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031935.2:c.15814+38G>A;ESP6500_MAF=44.5,12.7326,41.0118;ESP6500_TAC=7672,5334	GT:AD:DP:GQ:PL	0/1:11,26:37:99:671,0,316
chr1	186188073	rs143561814	CAT	C	515.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.485;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.048;SOR=0.776;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143561814;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|HMCN1|HMCN1|transcript|NM_031935.2|protein_coding|106/106|c.16541+66_16541+67delTA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=16;p3_1000G_AF=0.00319489;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=26210;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186157205;p3_1000G_GRCH37_REF=CAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:22,15:37:99:553,0,893
chr1	186296816	rs1293987	T	A	427.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1293987;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|PRG4|PRG4|transcript|NM_005807.4|protein_coding|1/12|c.-30-30T>A||||||,A|intron_variant|MODIFIER|PRG4|PRG4|transcript|NM_001127708.2|protein_coding|1/11|c.-30-30T>A||||||,A|intron_variant|MODIFIER|PRG4|PRG4|transcript|NM_001127709.2|protein_coding|1/10|c.-30-30T>A||||||,A|intron_variant|MODIFIER|PRG4|PRG4|transcript|NM_001127710.2|protein_coding|1/9|c.-30-30T>A||||||,A|intron_variant|MODIFIER|PRG4|PRG4|transcript|NM_001303232.1|protein_coding|1/11|c.-30-30T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3622;p3_1000G_AF=0.723243;p3_1000G_AFR_AF=0.7579;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=16885;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.5577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186265948;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7505;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1000,384;ESP6500_AA_GTC=360,280,52;ESP6500_CDS_SIZES=NM_005807.3:4215,NM_001127710.1:3813,NM_001127709.1:3936,NM_001127708.1:4092;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=96;ESP6500_EA_AC=1654,1528;ESP6500_EA_GTC=411,832,348;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005807.3:intron,NM_001127710.1:intron,NM_001127709.1:intron,NM_001127708.1:intron;ESP6500_GL=PRG4;ESP6500_GRCh38_POSITION=1:186296816;ESP6500_GTC=771,1112,400;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_005807.3:c.-60T>A,NM_001127710.1:c.-60T>A,NM_001127709.1:c.-60T>A,NM_001127708.1:c.-60T>A;ESP6500_MAF=48.0201,27.7457,41.8747;ESP6500_TAC=2654,1912	GT:AD:DP:GQ:PL	1/1:0,14:14:42:456,42,0
chr1	186306628	rs16825150	G	A	705.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.191;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=5.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.492;SOR=1.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16825150;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|PRG4|PRG4|transcript|NM_005807.4|protein_coding|7/13|c.909G>A|p.Lys303Lys|960/5050|909/4215|303/1404||,A|synonymous_variant|LOW|PRG4|PRG4|transcript|NM_001127708.2|protein_coding|6/12|c.786G>A|p.Lys262Lys|837/4927|786/4092|262/1363||,A|synonymous_variant|LOW|PRG4|PRG4|transcript|NM_001127709.2|protein_coding|5/11|c.630G>A|p.Lys210Lys|681/4771|630/3936|210/1311||,A|synonymous_variant|LOW|PRG4|PRG4|transcript|NM_001127710.2|protein_coding|4/10|c.507G>A|p.Lys169Lys|558/4648|507/3813|169/1270||,A|synonymous_variant|LOW|PRG4|PRG4|transcript|NM_001303232.1|protein_coding|6/12|c.780G>A|p.Lys260Lys|831/4921|780/4086|260/1361||;p3_1000G_AA=g|||;p3_1000G_AC=888;p3_1000G_AF=0.177316;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=18456;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.1521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186275760;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP;ESP6500_AA_AC=1272,3134;ESP6500_AA_AGE=434.7+/-344.0;ESP6500_AA_GTC=186,900,1117;ESP6500_CDS_SIZES=NM_005807.3:4215,NM_001127710.1:3813,NM_001127709.1:3936,NM_001127708.1:4092;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=122;ESP6500_EA_AC=1361,7239;ESP6500_EA_AGE=265.3+/-286.1;ESP6500_EA_GTC=110,1141,3049;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005807.3:coding-synonymous,NM_001127710.1:coding-synonymous,NM_001127709.1:coding-synonymous,NM_001127708.1:coding-synonymous;ESP6500_GL=PRG4;ESP6500_GRCh38_POSITION=1:186306628;ESP6500_GTC=296,2041,4166;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005807.3:c.909G>A,NM_001127710.1:c.507G>A,NM_001127709.1:c.630G>A,NM_001127708.1:c.786G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005807.3:p.(K303),NM_001127710.1:p.(K169),NM_001127709.1:p.(K210),NM_001127708.1:p.(K262);ESP6500_MAF=15.8256,28.8697,20.2445;ESP6500_TAC=2633,10373	GT:AD:DP:GQ:PL	0/1:34,26:60:99:734,0,981
chr1	186307135	rs770844232	GGAGCCTGCACCCACCACTCCCAAA	G	1019.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.61;MQRankSum=-1.608;QD=20.39;ReadPosRankSum=-0.053;SOR=0.829;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|disruptive_inframe_deletion|MODERATE|PRG4|PRG4|transcript|NM_005807.4|protein_coding|7/13|c.1431_1454delCACTCCCAAAGAGCCTGCACCCAC|p.Thr478_Thr485del|1482/5050|1431/4215|477/1404||INFO_REALIGN_3_PRIME,G|disruptive_inframe_deletion|MODERATE|PRG4|PRG4|transcript|NM_001127708.2|protein_coding|6/12|c.1308_1331delCACTCCCAAAGAGCCTGCACCCAC|p.Thr437_Thr444del|1359/4927|1308/4092|436/1363||INFO_REALIGN_3_PRIME,G|disruptive_inframe_deletion|MODERATE|PRG4|PRG4|transcript|NM_001127709.2|protein_coding|5/11|c.1152_1175delCACTCCCAAAGAGCCTGCACCCAC|p.Thr385_Thr392del|1203/4771|1152/3936|384/1311||INFO_REALIGN_3_PRIME,G|disruptive_inframe_deletion|MODERATE|PRG4|PRG4|transcript|NM_001127710.2|protein_coding|4/10|c.1029_1052delCACTCCCAAAGAGCCTGCACCCAC|p.Thr344_Thr351del|1080/4648|1029/3813|343/1270||INFO_REALIGN_3_PRIME,G|disruptive_inframe_deletion|MODERATE|PRG4|PRG4|transcript|NM_001303232.1|protein_coding|6/12|c.1302_1325delCACTCCCAAAGAGCCTGCACCCAC|p.Thr435_Thr442del|1353/4921|1302/4086|434/1361||INFO_REALIGN_3_PRIME,G|downstream_gene_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding||c.*6812_*6835delTTTGGGAGTGGTGGGTGCAGGCTC|||||4518|;ESP6500_AA_AC=544,3718;ESP6500_AA_GTC=18,508,1605;ESP6500_CDS_SIZES=NM_005807.3:4215,NM_001127710.1:3813,NM_001127709.1:3936,NM_001127708.1:4092;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DP=91;ESP6500_EA_AC=1331,6903;ESP6500_EA_GTC=89,1153,2875;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005807.3:coding,NM_001127710.1:coding,NM_001127709.1:coding,NM_001127708.1:coding;ESP6500_GL=PRG4;ESP6500_GRCh38_POSITION=1:186307135;ESP6500_GTC=107,1661,4480;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005807.3:c.1417_1440del24,NM_001127710.1:c.1015_1038del24,NM_001127709.1:c.1138_1161del24,NM_001127708.1:c.1294_1317del24;ESP6500_HGVS_PROTEIN_VAR=NM_005807.3:p.(E473_K480del8),NM_001127710.1:p.(E339_K346del8),NM_001127709.1:p.(E380_K387del8),NM_001127708.1:p.(E432_K439del8);ESP6500_MAF=16.1647,12.764,15.0048;ESP6500_TAC=1875,10621	GT:AD:DP:GQ:PL	0/1:23,27:50:99:1057,0,1165
chr1	186317650	rs34585917	A	G	126.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34585917;dbSNPBuildID=126;ANN=G|downstream_gene_variant|MODIFIER|PRG4|PRG4|transcript|NM_005807.4|protein_coding||c.*3872A>G|||||3088|,G|downstream_gene_variant|MODIFIER|PRG4|PRG4|transcript|NM_001127708.2|protein_coding||c.*3872A>G|||||3088|,G|downstream_gene_variant|MODIFIER|PRG4|PRG4|transcript|NM_001127709.2|protein_coding||c.*3872A>G|||||3088|,G|downstream_gene_variant|MODIFIER|PRG4|PRG4|transcript|NM_001127710.2|protein_coding||c.*3872A>G|||||3088|,G|downstream_gene_variant|MODIFIER|PRG4|PRG4|transcript|NM_001303232.1|protein_coding||c.*3872A>G|||||3088|,G|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|48/50|c.6822-50T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=891;p3_1000G_AF=0.177915;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=15349;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.1511;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186286782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1030,2588;ESP6500_AA_GTC=160,710,939;ESP6500_CDS_SIZES=NM_003292.2:7092;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=24;ESP6500_EA_AC=1280,6844;ESP6500_EA_GTC=104,1072,2886;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003292.2:intron;ESP6500_GL=TPR;ESP6500_GRCh38_POSITION=1:186317650;ESP6500_GTC=264,1782,3825;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003292.2:c.6822-50T>C;ESP6500_MAF=15.7558,28.4688,19.673;ESP6500_TAC=2310,9432	GT:AD:DP:GQ:PL	1/1:0,4:4:12:154,12,0
chr1	186322207	rs6425026	T	C	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.78;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.6;ReadPosRankSum=0.289;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6425026;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|45/50|c.6461+111A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3002;p3_1000G_AF=0.599441;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=19911;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186291339;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,10:13:73:374,0,73
chr1	186323671	rs3818293	C	T	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=4.27;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.899;SOR=1.915;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818293;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|43/50|c.6297+15G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=610;p3_1000G_AF=0.121805;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=15187;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.0895;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186292803;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=88,3624;ESP6500_AA_GTC=1,86,1769;ESP6500_CDS_SIZES=NM_003292.2:7092;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=87;ESP6500_EA_AC=784,7402;ESP6500_EA_GTC=46,692,3355;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003292.2:intron;ESP6500_GL=TPR;ESP6500_GRCh38_POSITION=1:186323671;ESP6500_GTC=47,778,5124;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003292.2:c.6297+15G>A;ESP6500_MAF=9.5773,2.3707,7.329;ESP6500_TAC=872,11026	GT:AD:DP:GQ:PL	0/1:25,7:32:99:151,0,604
chr1	186325889	rs76057663	A	G	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.791;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.36;ReadPosRankSum=-1.605;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76057663;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|41/50|c.6022-35T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=601;p3_1000G_AF=0.120008;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=15503;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186295021;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=365,3251;ESP6500_AA_GTC=21,323,1464;ESP6500_CDS_SIZES=NM_003292.2:7092;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=46;ESP6500_EA_AC=1279,6847;ESP6500_EA_GTC=104,1071,2888;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003292.2:intron;ESP6500_GL=TPR;ESP6500_GRCh38_POSITION=1:186325889;ESP6500_GTC=125,1394,4352;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003292.2:c.6022-35T>C;ESP6500_MAF=15.7396,10.094,14.001;ESP6500_TAC=1644,10098	GT:AD:DP:GQ:PL	0/1:12,4:16:82:82,0,322
chr1	186344117	rs2950829	A	G	1033.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=5.058;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2950829;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|25/50|c.3418-27T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4864;p3_1000G_AF=0.971246;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=17889;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.9881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186313249;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3574,120;ESP6500_AA_GTC=1728,118,1;ESP6500_CDS_SIZES=NM_003292.2:7092;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=53;ESP6500_EA_AC=8058,138;ESP6500_EA_GTC=3960,138,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003292.2:intron;ESP6500_GL=TPR;ESP6500_GRCh38_POSITION=1:186344117;ESP6500_GTC=5688,256,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003292.2:c.3418-27T>C;ESP6500_MAF=1.6837,3.2485,2.1699;ESP6500_TAC=11632,258	GT:AD:DP:GQ:PL	1/1:0,25:25:75:1062,75,0
chr1	186347356	rs3753565	C	T	898.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.778;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=0.805;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.691;SOR=0.829;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3753565;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|TPR|TPR|transcript|NM_003292.2|protein_coding|22/51|c.2879G>A|p.Ser960Asn|3176/9706|2879/7092|960/2363||;p3_1000G_AA=C|||;p3_1000G_AC=491;p3_1000G_AF=0.0980431;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=17863;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.1501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186316488;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=170,3708;ESP6500_AA_GTC=4,162,1773;ESP6500_CDS_SIZES=NM_003292.2:7092;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=274;ESP6500_EA_AC=1294,6994;ESP6500_EA_GTC=103,1088,2953;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003292.2:missense;ESP6500_GL=TPR;ESP6500_GRCh38_POSITION=1:186347356;ESP6500_GS=46;ESP6500_GTC=107,1250,4726;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003292.2:c.2879G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003292.2:p.(S960N);ESP6500_MAF=15.6129,4.3837,12.0335;ESP6500_PH=possibly-damaging:0.956;ESP6500_TAC=1464,10702	GT:AD:DP:GQ:PL	0/1:48,40:88:99:927,0,1213
chr1	186350448	rs6667940	C	A	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6667940;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|20/50|c.2611-60G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=886;p3_1000G_AF=0.176917;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=17406;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186319580;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:28:136,0,28
chr1	186360737	rs2026187	C	G	545.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.06;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=5.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.22;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2026187;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|10/50|c.1099+28G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2848;p3_1000G_AF=0.56869;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=16131;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.5825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186329869;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2158,1546;ESP6500_AA_GTC=629,900,323;ESP6500_CDS_SIZES=NM_003292.2:7092;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=99;ESP6500_EA_AC=4969,3203;ESP6500_EA_GTC=1508,1953,625;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003292.2:intron;ESP6500_GL=TPR;ESP6500_GRCh38_POSITION=1:186360737;ESP6500_GTC=2137,2853,948;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003292.2:c.1099+28G>C;ESP6500_MAF=39.1948,41.7387,39.9882;ESP6500_TAC=7127,4749	GT:AD:DP:GQ:PL	0/1:23,19:42:99:574,0,548
chr1	186361511	rs10494586	T	C	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.652;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10494586;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|9/50|c.958+111A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2811;p3_1000G_AF=0.561302;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=15069;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186330643;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:68:136,0,68
chr1	186361568	rs36117514;~rs72132880	A	AG	413.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.823;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.78;ReadPosRankSum=-1.406;SOR=0.61;INS;HET;VARTYPE=INS;dbSNP138_ID=rs36117514;dbSNPBuildID=126;ANN=AG|intron_variant|MODIFIER|TPR|TPR|transcript|NM_003292.2|protein_coding|9/50|c.958+53_958+54insC||||||;p3_1000G_AA=G|-|G|deletion;p3_1000G_AC=1660;p3_1000G_AF=0.33147;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=14841;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186330700;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=INDEL;ESP6500_AA_AC=1277,84,2121;ESP6500_AA_GTC=252,12,761,1,70,645;ESP6500_CDS_SIZES=NM_003292.2:7092,NM_003292.2:7092;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=49;ESP6500_EA_AC=1972,224,5594;ESP6500_EA_GTC=257,4,1454,2,216,1962;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003292.2:intron,NM_003292.2:intron;ESP6500_GL=TPR;ESP6500_GRCh38_POSITION=1:186361568;ESP6500_GTC=509,16,2215,3,286,2607;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_003292.2:c.958+53_958+54insT,NM_003292.2:c.958+53_958+54insC;ESP6500_MAF=28.19,39.0867,31.5561;ESP6500_TAC=3249,308,7715	GT:AD:DP:GQ:PL	0/1:6,13:19:99:451,0,167
chr1	186388391	rs1290390	T	C	454.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.42;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1290390;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|C1orf27|C1orf27|transcript|NM_017847.5|protein_coding|4/13|c.331-51T>C||||||,C|intron_variant|MODIFIER|C1orf27|C1orf27|transcript|NM_001164245.1|protein_coding|4/12|c.331-51T>C||||||,C|intron_variant|MODIFIER|C1orf27|C1orf27|transcript|NM_001164246.1|protein_coding|3/12|c.235-51T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4895;p3_1000G_AF=0.977436;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=16242;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.9881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186357523;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:483,48,0
chr1	186680089	rs2745557	A	G	64.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2745557;dbSNPBuildID=100;ANN=G|sequence_feature|LOW|PTGS2|PTGS2|domain:EGF-like|NM_000963.3|protein_coding|1/9|c.52+150T>C||||||,G|upstream_gene_variant|MODIFIER|PACERR|PACERR|transcript|NR_125801.1|pseudogene||n.-565A>G|||||565|,G|intron_variant|MODIFIER|PTGS2|PTGS2|transcript|NM_000963.3|protein_coding|1/9|c.52+150T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4277;p3_1000G_AF=0.854034;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=17024;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.7992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186649221;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr1	186893287	rs7519192	A	G	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.69;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.642;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7519192;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|4/17|c.264+128A>G||||||,G|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|4/15|c.264+128A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1358;p3_1000G_AF=0.271166;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=16739;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186862419;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:200,0,280
chr1	186894253	rs2307193;rs570962696	TAA	T	556.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.289;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=-0.391;SOR=0.653;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs2307193;dbSNPBuildID=100,142;ANN=T|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|5/17|c.378+44_378+45delAA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|5/15|c.378+44_378+45delAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2244;p3_1000G_AF=0.448083;p3_1000G_AFR_AF=0.5265;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=16407;p3_1000G_EAS_AF=0.3343;p3_1000G_EUR_AF=0.336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186863385;p3_1000G_GRCH37_REF=TAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=INDEL;ESP6500_AA_AC=2173,2091;ESP6500_AA_GTC=545,1083,504;ESP6500_CDS_SIZES=NM_024420.2:2250;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=2816,5426;ESP6500_EA_GTC=479,1858,1784;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024420.2:intron;ESP6500_GL=PLA2G4A;ESP6500_GRCh38_POSITION=1:186894253;ESP6500_GTC=1024,2941,2288;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024420.2:c.378+43_378+44del2;ESP6500_MAF=34.1665,49.0385,39.8929;ESP6500_TAC=4989,7517	GT:AD:DP:GQ:PL	0/1:12,15:27:99:594,0,487
chr1	186946531	rs10911965	C	A	326.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10911965;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|10/17|c.1034-106C>A||||||,A|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|8/15|c.854-106C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=15649;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186915663;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:186946531_C_A:355,24,0
chr1	186946532	rs10911966	A	G	326.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.34;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10911966;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|10/17|c.1034-105A>G||||||,G|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|8/15|c.854-105A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=15716;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186915664;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:186946531_C_A:355,24,0
chr1	186946955	rs188911054	G	C	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.28;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs188911054;dbSNPBuildID=135;ANN=C|missense_variant|MODERATE|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|12/18|c.1258G>C|p.Glu420Gln|1463/2928|1258/2250|420/749||,C|missense_variant|MODERATE|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|10/16|c.1078G>C|p.Glu360Gln|1283/2748|1078/2070|360/689||;p3_1000G_AA=G|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14684;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186916087;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:99:131,0,348
chr1	186950600	rs4650709	A	T	94.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4650709;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|12/17|c.1265-57A>T||||||,T|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|10/15|c.1085-57A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=14564;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186919732;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:122,12,0
chr1	186956036	rs5007825	A	G	723.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.9;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5007825;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|13/17|c.1337-66A>G||||||,G|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|11/15|c.1157-66A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=16685;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186925168;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:752,66,0
chr1	186956062	rs5007824	T	C	1185.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=2.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5007824;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|13/17|c.1337-40T>C||||||,C|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|11/15|c.1157-40T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=18462;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9483;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186925194;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4343,63;ESP6500_AA_AGE=55.5+/-91.7;ESP6500_AA_GTC=2140,63,0;ESP6500_CDS_SIZES=NM_024420.2:2250;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_113;ESP6500_DP=39;ESP6500_EA_AC=8113,487;ESP6500_EA_AGE=137.5+/-194.4;ESP6500_EA_GTC=3826,461,13;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024420.2:intron;ESP6500_GL=PLA2G4A;ESP6500_GRCh38_POSITION=1:186956062;ESP6500_GTC=5966,524,13;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024420.2:c.1337-40T>C;ESP6500_MAF=5.6628,1.4299,4.2288;ESP6500_TAC=12456,550	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1214,96,0
chr1	186956420	rs2307199	T	C	1106.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2307199;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|14/17|c.1579+76T>C||||||,C|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|12/15|c.1399+76T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=21250;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186925552;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1135,84,0
chr1	186977506	rs2891262	C	T	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.86;ReadPosRankSum=-0.282;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2891262;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|15/17|c.1765-87C>T||||||,T|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|13/15|c.1585-87C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=919;p3_1000G_AF=0.183506;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=19185;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.1988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186946638;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,8:9:55:0|1:186977506_C_T:333,0,55
chr1	186977509	rs2891263	C	G	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.86;ReadPosRankSum=-0.14;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2891263;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|15/17|c.1765-84C>G||||||,G|intron_variant|MODIFIER|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|13/15|c.1585-84C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=919;p3_1000G_AF=0.183506;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=19178;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.1988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186946641;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,8:9:55:0|1:186977506_C_T:333,0,55
chr1	186977780	rs2307198	G	A	745.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.9;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2307198;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|PLA2G4A|PLA2G4A|transcript|NM_024420.2|protein_coding|16/18|c.1952G>A|p.Arg651Lys|2157/2928|1952/2250|651/749||,A|missense_variant|MODERATE|PLA2G4A|PLA2G4A|transcript|NM_001311193.1|protein_coding|14/16|c.1772G>A|p.Arg591Lys|1977/2748|1772/2070|591/689||;p3_1000G_AA=A|||;p3_1000G_AC=4949;p3_1000G_AF=0.988219;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=19856;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186946912;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4386,20;ESP6500_AA_AGE=27.2+/-55.0;ESP6500_AA_GTC=2183,20,0;ESP6500_CDS_SIZES=NM_024420.2:2250;ESP6500_CG=6.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=8433,167;ESP6500_EA_AGE=77.5+/-140.1;ESP6500_EA_GTC=4135,163,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024420.2:missense;ESP6500_GL=PLA2G4A;ESP6500_GRCh38_POSITION=1:186977780;ESP6500_GS=26;ESP6500_GTC=6318,183,2;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024420.2:c.1952G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024420.2:p.(R651K);ESP6500_MAF=1.9419,0.4539,1.4378;ESP6500_PH=benign:0.0;ESP6500_TAC=12819,187	GT:AD:DP:GQ:PL	1/1:0,22:22:66:774,66,0
chr1	192366141	rs59139714	C	CTAAT	637.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.911;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59139714;dbSNPBuildID=137;ANN=CTAAT|3_prime_UTR_variant|MODIFIER|RGS21|RGS21|transcript|NM_001039152.3|protein_coding|5/5|c.*18_*21dupTAAT|||||22|INFO_REALIGN_3_PRIME;p3_1000G_AC=2295;p3_1000G_AF=0.458267;p3_1000G_AFR_AF=0.6619;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=15591;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.5169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192335271;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:675,45,0
chr1	192575969	rs7535818	G	A	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.033;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.851;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-1.058;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7535818;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|RGS1|RGS1|transcript|NM_002922.3|protein_coding|1/4|c.137+40G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3154;p3_1000G_AF=0.629792;p3_1000G_AFR_AF=0.2882;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=19827;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.8091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192545099;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8793;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1534,2868;ESP6500_AA_AGE=452.8+/-350.1;ESP6500_AA_GTC=286,962,953;ESP6500_CDS_SIZES=NM_002922.3:630;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=6985,1613;ESP6500_EA_AGE=726.8+/-406.6;ESP6500_EA_GTC=2860,1265,174;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002922.3:intron;ESP6500_GL=RGS1;ESP6500_GRCh38_POSITION=1:192575969;ESP6500_GTC=3146,2227,1127;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002922.3:c.137+40G>A;ESP6500_MAF=18.7602,34.8478,34.4692;ESP6500_TAC=8519,4481	GT:AD:DP:GQ:PL	0/1:14,10:24:99:223,0,343
chr1	192810097	rs2746073	T	A	177.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2746073;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RGS2|RGS2|transcript|NM_002923.3|protein_coding|1/4|c.111-69T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1256;p3_1000G_AF=0.250799;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=19777;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192779227;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:206,15,0
chr1	192810958	rs573552607;rs5779653;rs866634870;rs3053226	GCT	G	350.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=3.056;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5779653;dbSNPBuildID=138,147,142;ANN=G|intron_variant|MODIFIER|RGS2|RGS2|transcript|NM_002923.3|protein_coding|3/4|c.275-18_275-17delCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1604;p3_1000G_AF=0.320288;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=18197;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.2734;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192780088;p3_1000G_GRCH37_REF=GCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=INDEL;ESP6500_AA_AC=1306,2960;ESP6500_AA_GTC=201,904,1028;ESP6500_CDS_SIZES=NM_002923.3:636;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=91;ESP6500_EA_AC=2243,6011;ESP6500_EA_GTC=305,1633,2189;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002923.3:intron;ESP6500_GL=RGS2;ESP6500_GRCh38_POSITION=1:192810958;ESP6500_GTC=506,2537,3217;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002923.3:c.275-22_275-21del2;ESP6500_MAF=27.1747,30.6142,28.3466;ESP6500_TAC=3549,8971	GT:AD:DP:GQ:PL	1/1:0,9:9:27:388,27,0
chr1	192811207	rs10607546	CAA	C	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.085;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10607546;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|RGS2|RGS2|transcript|NM_002923.3|protein_coding|4/4|c.441+62_441+63delAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1606;p3_1000G_AF=0.320687;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=17569;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192780337;p3_1000G_GRCH37_REF=CAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:450,30,0
chr1	193022790	rs36034206	T	G	107.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.34;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs36034206;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_015984.3|protein_coding|9/10|c.846+136A>C||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199261.1|protein_coding|9/10|c.843+136A>C||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199262.1|protein_coding|9/11|c.843+136A>C||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199263.1|protein_coding|9/10|c.843+136A>C||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NR_037607.1|pseudogene|9/10|n.1242+136A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:193022790_T_G:135,9,0
chr1	193022791	rs11385250	G	GT	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11385250;dbSNPBuildID=126;ANN=GT|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_015984.3|protein_coding|9/10|c.846+134_846+135insA||||||,GT|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199261.1|protein_coding|9/10|c.843+134_843+135insA||||||,GT|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199262.1|protein_coding|9/11|c.843+134_843+135insA||||||,GT|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199263.1|protein_coding|9/10|c.843+134_843+135insA||||||,GT|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NR_037607.1|pseudogene|9/10|n.1242+134_1242+135insA||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:193022790_T_G:135,9,0
chr1	193022794	rs34849704	A	C	107.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34849704;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_015984.3|protein_coding|9/10|c.846+132T>G||||||,C|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199261.1|protein_coding|9/10|c.843+132T>G||||||,C|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199262.1|protein_coding|9/11|c.843+132T>G||||||,C|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199263.1|protein_coding|9/10|c.843+132T>G||||||,C|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NR_037607.1|pseudogene|9/10|n.1242+132T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:193022790_T_G:135,9,0
chr1	193023737	rs1002245060	G	A	66.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=A|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_015984.3|protein_coding|8/10|c.732+107C>T||||||,A|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199261.1|protein_coding|8/10|c.732+107C>T||||||,A|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199262.1|protein_coding|8/11|c.732+107C>T||||||,A|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199263.1|protein_coding|8/10|c.732+107C>T||||||,A|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NR_037607.1|pseudogene|8/10|n.1131+107C>T||||||	GT:AD:DP:GQ:PL	0/1:1,3:4:25:95,0,25
chr1	193051712	rs779224620	GTA	G	29.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=1.38;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|sequence_feature|MODERATE|UCHL5|UCHL5|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_015984.3|protein_coding|2/10|c.140+40_140+41delTA||||||,G|sequence_feature|MODERATE|UCHL5|UCHL5|modified-residue:N6-succinyllysine|NM_015984.3|protein_coding|2/10|c.140+40_140+41delTA||||||,G|sequence_feature|MODERATE|UCHL5|UCHL5|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_001199261.1|protein_coding|2/10|c.140+40_140+41delTA||||||,G|sequence_feature|MODERATE|UCHL5|UCHL5|modified-residue:N6-succinyllysine|NM_001199261.1|protein_coding|2/10|c.140+40_140+41delTA||||||,G|sequence_feature|MODERATE|UCHL5|UCHL5|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_001199262.1|protein_coding|2/11|c.140+40_140+41delTA||||||,G|sequence_feature|MODERATE|UCHL5|UCHL5|modified-residue:N6-succinyllysine|NM_001199262.1|protein_coding|2/11|c.140+40_140+41delTA||||||,G|sequence_feature|MODERATE|UCHL5|UCHL5|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_001199263.1|protein_coding|2/10|c.140+40_140+41delTA||||||,G|sequence_feature|MODERATE|UCHL5|UCHL5|modified-residue:N6-succinyllysine|NM_001199263.1|protein_coding|2/10|c.140+40_140+41delTA||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_015984.3|protein_coding|2/10|c.140+40_140+41delTA||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199261.1|protein_coding|2/10|c.140+40_140+41delTA||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199262.1|protein_coding|2/11|c.140+40_140+41delTA||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NM_001199263.1|protein_coding|2/10|c.140+40_140+41delTA||||||,G|intron_variant|MODIFIER|UCHL5|UCHL5|transcript|NR_037607.1|pseudogene|2/10|n.539+40_539+41delTA||||||;ESP6500_AA_AC=92,38,3724;ESP6500_AA_GTC=12,0,68,1,36,1810;ESP6500_CDS_SIZES=NM_015984.3:990,NM_015984.3:990,NM_001199263.1:951,NM_001199263.1:951,NM_001199262.1:981,NM_001199262.1:981,NM_001199261.1:987,NM_001199261.1:987;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DP=10;ESP6500_EA_AC=172,294,7262;ESP6500_EA_GTC=23,1,125,25,243,3447;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015984.3:intron,NM_015984.3:intron,NM_001199263.1:intron,NM_001199263.1:intron,NM_001199262.1:intron,NM_001199262.1:intron,NM_001199261.1:intron,NM_001199261.1:intron;ESP6500_GL=UCHL5;ESP6500_GRCh38_POSITION=1:193051712;ESP6500_GTC=35,1,193,26,279,5257;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_015984.3:c.140+41_140+42insTA,NM_015984.3:c.140+40_140+41del2,NM_001199263.1:c.140+41_140+42insTA,NM_001199263.1:c.140+40_140+41del2,NM_001199262.1:c.140+41_140+42insTA,NM_001199262.1:c.140+40_140+41del2,NM_001199261.1:c.140+41_140+42insTA,NM_001199261.1:c.140+40_140+41del2;ESP6500_MAF=6.03,3.3731,5.1459;ESP6500_TAC=264,332,10986	GT:AD:DP:GQ:PL	0/1:2,2:4:66:67,0,66
chr1	193125238	rs1400090904;rs80356645;rs71945947;21684	TTATC	T	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.49;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71945947,rs80356645,rs67113115;dbSNPBuildID=151,131;ANN=T|intron_variant|MODIFIER|CDC73|CDC73|transcript|NM_024529.4|protein_coding|2/16|c.237+29_237+32delCTAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=697;p3_1000G_AF=0.139177;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=18405;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=193094368;p3_1000G_GRCH37_REF=TTATC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=INDEL;ESP6500_AA_AC=55,4211;ESP6500_AA_GTC=1,53,2079;ESP6500_CDS_SIZES=NM_024529.4:1596;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=92;ESP6500_EA_AC=262,7992;ESP6500_EA_GTC=4,254,3869;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024529.4:intron;ESP6500_GL=CDC73;ESP6500_GRCh38_POSITION=1:193125238;ESP6500_GTC=5,307,5948;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024529.4:c.237+22_237+25del4;ESP6500_MAF=3.1742,1.2893,2.5319;ESP6500_TAC=317,12203;CLINVAR_ALLELEID=34536;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0006780,MedGen:C0687150,OMIM:608266,Orphanet:ORPHA143,SNOMED_CT:255037004;CLINVAR_CLNDN=Parathyroid_carcinoma;CLINVAR_CLNHGVS=NC_000001.11:g.193125245_193125248delTCTA;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=CDC73:79577;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_RS=80356645	GT:AD:DP:GQ:PL	1/1:0,10:10:30:450,30,0
chr1	196258396	rs977157	A	G	946.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.85;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs977157;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|KCNT2|KCNT2|transcript|NM_198503.3|protein_coding|26/28|c.3009T>C|p.Asp1003Asp|3131/5973|3009/3408|1003/1135||,G|synonymous_variant|LOW|KCNT2|KCNT2|transcript|NM_001287819.1|protein_coding|25/27|c.2937T>C|p.Asp979Asp|3059/5901|2937/3336|979/1111||,G|synonymous_variant|LOW|KCNT2|KCNT2|transcript|NM_001287820.1|protein_coding|25/27|c.2808T>C|p.Asp936Asp|2930/5772|2808/3207|936/1068||;p3_1000G_AA=G|||;p3_1000G_AC=4944;p3_1000G_AF=0.98722;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=14842;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196227526;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4232,174;ESP6500_AA_AGE=114.2+/-152.2;ESP6500_AA_GTC=2034,164,5;ESP6500_CDS_SIZES=NM_198503.2:3408;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=171;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198503.2:coding-synonymous;ESP6500_GL=KCNT2;ESP6500_GRCh38_POSITION=1:196258396;ESP6500_GTC=6332,166,5;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198503.2:c.3009T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198503.2:p.(D1003);ESP6500_MAF=0.0233,3.9492,1.3532;ESP6500_TAC=12830,176	GT:AD:DP:GQ:PL	1/1:0,34:34:99:975,102,0
chr1	196273634	rs558895	T	G	165.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs558895;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_198503.3|protein_coding|25/27|c.2910+7226A>C||||||,G|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287819.1|protein_coding|24/26|c.2838+7226A>C||||||,G|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287820.1|protein_coding|23/26|c.2689-146A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4572;p3_1000G_AF=0.912939;p3_1000G_AFR_AF=0.8192;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=15817;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.9742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196242764;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:194,15,0
chr1	196282392	rs2477357	T	C	122.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.47;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2477357;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_198503.3|protein_coding|23/27|c.2698-36A>G||||||,C|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287819.1|protein_coding|22/26|c.2626-36A>G||||||,C|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287820.1|protein_coding|21/26|c.2476-36A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3585;p3_1000G_AF=0.715855;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=13736;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196251522;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1903,2485;ESP6500_AA_GTC=445,1013,736;ESP6500_CDS_SIZES=NM_198503.2:3408;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=23;ESP6500_EA_AC=7229,1357;ESP6500_EA_GTC=3053,1123,117;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198503.2:intron;ESP6500_GL=KCNT2;ESP6500_GRCh38_POSITION=1:196282392;ESP6500_GTC=3498,2136,853;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198503.2:c.2698-36A>G;ESP6500_MAF=15.8048,43.3683,29.6131;ESP6500_TAC=9132,3842	GT:AD:DP:GQ:PL	1/1:0,6:6:18:151,18,0
chr1	196285840	rs2477360	C	T	671.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2477360;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_198503.3|protein_coding|22/27|c.2596-82G>A||||||,T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287819.1|protein_coding|21/26|c.2524-82G>A||||||,T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287820.1|protein_coding|20/26|c.2374-82G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4977;p3_1000G_AF=0.99381;p3_1000G_AFR_AF=0.9788;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=17474;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196254970;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:700,66,0
chr1	196423033	rs145726705	A	G	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=0.125;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145726705;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_198503.3|protein_coding|12/27|c.1185+17T>C||||||,G|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287819.1|protein_coding|12/26|c.1185+17T>C||||||,G|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287820.1|protein_coding|12/26|c.1185+17T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14778;p3_1000G_EAS_AF=0.0188;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196392163;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:99:123,0,224
chr1	196429844	rs12121250	T	A	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12121250;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_198503.3|protein_coding|8/27|c.639-87A>T||||||,A|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287819.1|protein_coding|8/26|c.639-87A>T||||||,A|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287820.1|protein_coding|8/26|c.639-87A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2457;p3_1000G_AF=0.490615;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=16578;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.5915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196398974;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:33:67,0,33
chr1	196479371	rs74931432	C	T	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.858;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=1.31;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74931432;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_198503.3|protein_coding|4/27|c.325-133G>A||||||,T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287819.1|protein_coding|4/26|c.325-133G>A||||||,T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287820.1|protein_coding|4/26|c.325-133G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=29;p3_1000G_AF=0.00579073;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15623;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196448501;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:141,0,217
chr1	196492383	rs4607811	C	T	91.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4607811;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_198503.3|protein_coding|1/27|c.96-42G>A||||||,T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287819.1|protein_coding|1/26|c.96-42G>A||||||,T|intron_variant|MODIFIER|KCNT2|KCNT2|transcript|NM_001287820.1|protein_coding|1/26|c.96-42G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4924;p3_1000G_AF=0.983227;p3_1000G_AFR_AF=0.941;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=14834;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196461513;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4016,196;ESP6500_AA_GTC=1914,188,4;ESP6500_CDS_SIZES=NM_198503.2:3408;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=13;ESP6500_EA_AC=8355,5;ESP6500_EA_GTC=4175,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198503.2:intron;ESP6500_GL=KCNT2;ESP6500_GRCh38_POSITION=1:196492383;ESP6500_GTC=6089,193,4;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198503.2:c.96-42G>A;ESP6500_MAF=0.0598,4.6534,1.5988;ESP6500_TAC=12371,201	GT:AD:DP:GQ:PL	1/1:0,3:3:9:119,9,0
chr1	196672942	rs551397	C	T	739.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.566;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=1.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.112;SOR=0.456;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs551397;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|CFH|CFH|transcript|NM_000186.3|protein_coding|1/21|c.59-36C>T||||||,T|intron_variant|MODIFIER|CFH|CFH|transcript|NM_001014975.2|protein_coding|1/9|c.59-36C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2344;p3_1000G_AF=0.468051;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=15924;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196642072;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3014,1348;ESP6500_AA_GTC=1075,864,242;ESP6500_CDS_SIZES=NM_001014975.2:1350,NM_000186.3:3696;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=22;ESP6500_EA_AC=1879,6713;ESP6500_EA_GTC=210,1459,2627;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001014975.2:intron,NM_000186.3:intron;ESP6500_GL=CFH;ESP6500_GRCh38_POSITION=1:196672942;ESP6500_GTC=1285,2323,2869;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001014975.2:c.59-36C>T,NM_000186.3:c.59-36C>T;ESP6500_MAF=21.8692,30.9033,37.7721;ESP6500_TAC=4893,8061	GT:AD:DP:GQ:PL	0/1:44,34:78:99:768,0,1229
chr1	196673103	rs800292;16550	G	A	1734.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.688;ClippingRankSum=0;DP=171;ExcessHet=3.0103;FS=0.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.658;SOR=0.726;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs800292;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|CFH|CFH|transcript|NM_000186.3|protein_coding|2/22|c.184G>A|p.Val62Ile|424/4127|184/3696|62/1231||,A|missense_variant|MODERATE|CFH|CFH|transcript|NM_001014975.2|protein_coding|2/10|c.184G>A|p.Val62Ile|424/1824|184/1350|62/449||;p3_1000G_AA=A|||;p3_1000G_AC=2344;p3_1000G_AF=0.468051;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=15129;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.2604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196642233;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3119,1287;ESP6500_AA_AGE=437.8+/-345.1;ESP6500_AA_GTC=1117,885,201;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...3075&amp%3Brs...800292|http://www.ncbi.nlm.nih.gov/omim/120700,134370|http://omim.org/entry/134370#0009;ESP6500_CDS_SIZES=NM_001014975.2:1350,NM_000186.3:3696;ESP6500_CG=5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=84;ESP6500_EA_AC=1909,6691;ESP6500_EA_AGE=726.6+/-406.6;ESP6500_EA_GTC=210,1489,2601;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001014975.2:missense,NM_000186.3:missense;ESP6500_GL=CFH;ESP6500_GRCh38_POSITION=1:196673103;ESP6500_GS=29,29;ESP6500_GTC=1327,2374,2802;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001014975.2:c.184G>A,NM_000186.3:c.184G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001014975.2:p.(V62I),NM_000186.3:p.(V62I);ESP6500_MAF=22.1977,29.2102,38.6591;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=5028,7978;CLINVAR_AF_ESP=0.3866;CLINVAR_AF_EXAC=0.32095;CLINVAR_AF_TGP=0.4681;CLINVAR_ALLELEID=31589;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C1853147,OMIM:610698|MedGen:C2931788,Orphanet:ORPHA2134|MedGen:CN517202;CLINVAR_CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Age-related_macular_degeneration_4|Atypical_hemolytic_uremic_syndrome|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.196673103G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47828|OMIM_Allelic_Variant:134370.0009;CLINVAR_GENEINFO=CFH:3075;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=800292	GT:AD:DP:GQ:PL	0/1:95,76:171:99:1763,0,2383
chr1	196673839	rs35507625;rs386369223;rs552281857;rs55714531	C	CTT	387.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.493;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.783;SOR=0.23;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35507625,rs55714531;dbSNPBuildID=142,126,138,129;ANN=CTT|splice_region_variant&intron_variant|LOW|CFH|CFH|transcript|NM_000186.3|protein_coding|2/21|c.245-10_245-9dupTT||||||INFO_REALIGN_3_PRIME,CTT|splice_region_variant&intron_variant|LOW|CFH|CFH|transcript|NM_001014975.2|protein_coding|2/9|c.245-10_245-9dupTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:11,13:24:99:425,0,353
chr1	196685194	rs1061147;294488	A	C	620.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1061147;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|CFH|CFH|transcript|NM_000186.3|protein_coding|7/22|c.921A>C|p.Ala307Ala|1161/4127|921/3696|307/1231||,C|synonymous_variant|LOW|CFH|CFH|transcript|NM_001014975.2|protein_coding|7/10|c.921A>C|p.Ala307Ala|1161/1824|921/1350|307/449||;p3_1000G_AA=A|||;p3_1000G_AC=3571;p3_1000G_AF=0.713059;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=15542;p3_1000G_EAS_AF=0.9504;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196654324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2601,1805;ESP6500_AA_AGE=636.9+/-396.7;ESP6500_AA_GTC=770,1061,372;ESP6500_CDS_SIZES=NM_001014975.2:1350,NM_000186.3:3696;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=112;ESP6500_EA_AC=5308,3292;ESP6500_EA_AGE=645.1+/-400.1;ESP6500_EA_GTC=1648,2012,640;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001014975.2:coding-synonymous,NM_000186.3:coding-synonymous;ESP6500_GL=CFH;ESP6500_GRCh38_POSITION=1:196685194;ESP6500_GTC=2418,3073,1012;ESP6500_GTS=CC,CA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23326517;ESP6500_HGVS_CDNA_VAR=NM_001014975.2:c.921A>C,NM_000186.3:c.921A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001014975.2:p.(A307),NM_000186.3:p.(A307);ESP6500_MAF=38.2791,40.9669,39.1896;ESP6500_TAC=7909,5097;CLINVAR_ALLELEID=279197;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLINVAR_CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.196685194A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3222;CLINVAR_GENEINFO=CFH:3075;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1061147	GT:AD:DP:GQ:PL	1/1:0,21:21:63:649,63,0
chr1	196689367	rs482934	G	T	85.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs482934;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|CFH|CFH|transcript|NM_000186.3|protein_coding|7/21|c.965-53G>T||||||,T|intron_variant|MODIFIER|CFH|CFH|transcript|NM_001014975.2|protein_coding|7/9|c.965-53G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3914;p3_1000G_AF=0.78155;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=14744;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196658497;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:113,9,0
chr1	196690107	rs1061170;294490	C	T	1340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.57;QD=31.18;SOR=1.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1061170;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|CFH|CFH|transcript|NM_000186.3|protein_coding|9/22|c.1204C>T|p.His402Tyr|1444/4127|1204/3696|402/1231||,T|missense_variant|MODERATE|CFH|CFH|transcript|NM_001014975.2|protein_coding|9/10|c.1204C>T|p.His402Tyr|1444/1824|1204/1350|402/449||;p3_1000G_AA=T|||;p3_1000G_AC=3673;p3_1000G_AF=0.733427;p3_1000G_AFR_AF=0.6377;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=16067;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196659237;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2808,1598;ESP6500_AA_AGE=496.0+/-363.4;ESP6500_AA_GTC=889,1030,284;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...3075&amp%3Brs...1061170|http://www.ncbi.nlm.nih.gov/omim/123260,134370|http://omim.org/entry/134370#0008|http://www.ncbi.nlm.nih.gov/pubmed?term...20385826,21665990,22705344;ESP6500_CDS_SIZES=NM_001014975.2:1350,NM_000186.3:3696;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=51;ESP6500_EA_AC=5312,3288;ESP6500_EA_AGE=490.0+/-372.7;ESP6500_EA_GTC=1649,2014,637;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001014975.2:missense,NM_000186.3:missense;ESP6500_GL=CFH;ESP6500_GRCh38_POSITION=1:196690107;ESP6500_GS=83,83;ESP6500_GTC=2538,3044,921;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20385826,21665990,22705344;ESP6500_HGVS_CDNA_VAR=NM_001014975.2:c.1204C>T,NM_000186.3:c.1204C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001014975.2:p.(H402Y),NM_000186.3:p.(H402Y);ESP6500_MAF=38.2326,36.2687,37.5673;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8120,4886;CLINVAR_ALLELEID=278205;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLINVAR_CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.196690107C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3231;CLINVAR_GENEINFO=CFH:3075;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1061170	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1369,129,0
chr1	196713817	rs2274700;294491	G	A	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=1.34;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274700;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|CFH|CFH|transcript|NM_000186.3|protein_coding|10/22|c.1419G>A|p.Ala473Ala|1659/4127|1419/3696|473/1231||;p3_1000G_AA=A|||;p3_1000G_AC=2399;p3_1000G_AF=0.479034;p3_1000G_AFR_AF=0.4735;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=16109;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.4235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196682947;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2066,2340;ESP6500_AA_AGE=606.9+/-390.8;ESP6500_AA_GTC=497,1072,634;ESP6500_CDS_SIZES=NM_000186.3:3696;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=3477,5123;ESP6500_EA_AGE=632.1+/-398.6;ESP6500_EA_GTC=698,2081,1521;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000186.3:coding-synonymous;ESP6500_GL=CFH;ESP6500_GRCh38_POSITION=1:196713817;ESP6500_GTC=1195,3153,2155;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000186.3:c.1419G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000186.3:p.(A473);ESP6500_MAF=40.4302,46.8906,42.6188;ESP6500_TAC=5543,7463;CLINVAR_AF_ESP=0.4262;CLINVAR_AF_EXAC=0.44309;CLINVAR_AF_TGP=0.4790;CLINVAR_ALLELEID=279359;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLINVAR_CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.196713817G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3242;CLINVAR_GENEINFO=CFH:3075;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2274700	GT:AD:DP:GQ:PL	0/1:21,19:40:99:474,0,486
chr1	196715495	rs203674	G	T	532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs203674;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|CFH|CFH|transcript|NM_000186.3|protein_coding|10/21|c.1520-98G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3779;p3_1000G_AF=0.754593;p3_1000G_AFR_AF=0.7564;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=14552;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196684625;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:561,45,0
chr1	196726612	rs3753396;294498	A	G	1034.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=1.22;SOR=0.897;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3753396;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|CFH|CFH|transcript|NM_000186.3|protein_coding|13/22|c.2016A>G|p.Gln672Gln|2256/4127|2016/3696|672/1231||;p3_1000G_AA=A|||;p3_1000G_AC=1016;p3_1000G_AF=0.202875;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=15851;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196695742;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=293,4113;ESP6500_AA_AGE=159.2+/-191.8;ESP6500_AA_GTC=10,273,1920;ESP6500_CDS_SIZES=NM_000186.3:3696;ESP6500_CG=-2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=97;ESP6500_EA_AC=1488,7112;ESP6500_EA_AGE=281.7+/-295.2;ESP6500_EA_GTC=140,1208,2952;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000186.3:coding-synonymous;ESP6500_GL=CFH;ESP6500_GRCh38_POSITION=1:196726612;ESP6500_GTC=150,1481,4872;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000186.3:c.2016A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000186.3:p.(Q672);ESP6500_MAF=17.3023,6.65,13.6937;ESP6500_TAC=1781,11225;CLINVAR_AF_ESP=0.1369;CLINVAR_AF_EXAC=0.19474;CLINVAR_AF_TGP=0.2029;CLINVAR_ALLELEID=278184;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLINVAR_CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.196726612A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3272;CLINVAR_GENEINFO=CFH:3075;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3753396	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1063,0,914
chr1	196740644	rs1065489;294509	G	T	434.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.602;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.511;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1065489;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|CFH|CFH|transcript|NM_000186.3|protein_coding|18/22|c.2808G>T|p.Glu936Asp|3048/4127|2808/3696|936/1231||;p3_1000G_AA=G|||;p3_1000G_AC=1018;p3_1000G_AF=0.203275;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=16282;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196709774;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=292,4114;ESP6500_AA_GTC=10,272,1921;ESP6500_CDS_SIZES=NM_000186.3:3696;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=115;ESP6500_EA_AC=1503,7097;ESP6500_EA_GTC=142,1219,2939;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000186.3:missense;ESP6500_GL=CFH;ESP6500_GRCh38_POSITION=1:196740644;ESP6500_GS=45;ESP6500_GTC=152,1491,4860;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000186.3:c.2808G>T;ESP6500_HGVS_PROTEIN_VAR=NM_000186.3:p.(E936D);ESP6500_MAF=17.4767,6.6273,13.8013;ESP6500_PH=possibly-damaging:0.75;ESP6500_TAC=1795,11211;CLINVAR_AF_ESP=0.1380;CLINVAR_AF_EXAC=0.19548;CLINVAR_AF_TGP=0.2033;CLINVAR_ALLELEID=278188;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLINVAR_CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.196740644G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3290;CLINVAR_GENEINFO=CFH:3075;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1065489	GT:AD:DP:GQ:PL	0/1:16,20:36:99:463,0,453
chr1	196743447	rs513699	T	C	1504.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.43;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=11.071;MLEAC=1;MLEAF=0.5;MQ=54.22;MQRankSum=-9.425;QD=16.01;ReadPosRankSum=-1.829;SOR=2.059;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs513699;dbSNPBuildID=83;ANN=C|splice_region_variant&intron_variant|LOW|CFH|CFH|transcript|NM_000186.3|protein_coding|19/21|c.3134-5T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:54,40:94:99:0|1:196743447_T_C:1533,0,3048
chr1	196743456	rs61822181;294519	C	T	1706.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.942;ClippingRankSum=0;DP=114;ExcessHet=3.0103;FS=5.624;MLEAC=1;MLEAF=0.5;MQ=54.79;MQRankSum=-9.18;QD=14.97;ReadPosRankSum=0.638;SOR=1.29;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61822181;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|CFH|CFH|transcript|NM_000186.3|protein_coding|20/22|c.3138C>T|p.Thr1046Thr|3378/4127|3138/3696|1046/1231||;CLINVAR_AF_EXAC=0.26569;CLINVAR_ALLELEID=278224;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000608,MedGen:C0024437|MedGen:C0268743,Orphanet:ORPHA93571,SNOMED_CT:59479006|MedGen:C0730295,OMIM:126700,SNOMED_CT:312926005|MedGen:C2931788,Orphanet:ORPHA2134;CLINVAR_CLNDN=Macular_degeneration|Mesangiocapillary_glomerulonephritis,_type_II|Basal_laminar_drusen|Atypical_hemolytic_uremic_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.196743456C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47886;CLINVAR_GENEINFO=CFH:3075;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=61822181;CLINVAR_SSR=1	GT:AD:DP:GQ:PGT:PID:PL	0/1:65,49:114:99:0|1:196743447_T_C:1735,0,3342
chr1	196774834	rs446868	C	A	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.593;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.227;SOR=1.942;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs446868;dbSNPBuildID=80;ANN=A|5_prime_UTR_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_021023.5|protein_coding|1/6|c.-53C>A|||||53|,A|5_prime_UTR_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_001166624.1|protein_coding|1/5|c.-53C>A|||||53|;p3_1000G_AA=-|||;p3_1000G_AC=1491;p3_1000G_AF=0.297724;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=12264;p3_1000G_EAS_AF=0.5317;p3_1000G_EUR_AF=0.2137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196743964;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:350,0,170
chr1	196787963	rs390154	A	C	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.533;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs390154;dbSNPBuildID=80;ANN=C|sequence_feature|LOW|CFHR3|CFHR3|domain:Sushi_3|NM_021023.5|protein_coding|3/5|c.431-253A>C||||||,C|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_021023.5|protein_coding|3/5|c.431-253A>C||||||,C|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_001166624.1|protein_coding|3/4|c.431-2082A>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=1819;p3_1000G_AF=0.363219;p3_1000G_AFR_AF=0.5174;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=12164;p3_1000G_EAS_AF=0.5496;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196757093;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:147,0,535
chr1	196788128	rs400642	C	T	1177.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.71;QD=28.73;SOR=0.843;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs400642;dbSNPBuildID=80;ANN=T|sequence_feature|LOW|CFHR3|CFHR3|domain:Sushi_3|NM_021023.5|protein_coding|3/5|c.431-88C>T||||||,T|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_021023.5|protein_coding|3/5|c.431-88C>T||||||,T|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_001166624.1|protein_coding|3/4|c.431-1917C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=3239;p3_1000G_AF=0.646765;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=11614;p3_1000G_EAS_AF=0.9484;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196757258;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1206,123,0
chr1	196788262	rs400344	C	T	724.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.45;QD=30.2;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs400344;dbSNPBuildID=80;ANN=T|synonymous_variant|LOW|CFHR3|CFHR3|transcript|NM_021023.5|protein_coding|4/6|c.477C>T|p.Ser159Ser|564/1640|477/993|159/330||,T|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_001166624.1|protein_coding|3/4|c.431-1783C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=3252;p3_1000G_AF=0.649361;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=9863;p3_1000G_EAS_AF=0.9484;p3_1000G_EUR_AF=0.501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196757392;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:753,72,0
chr1	196788744	rs387111	G	A	568.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.093;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=0.85;QD=13.87;ReadPosRankSum=-0.332;SOR=0.553;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs387111;dbSNPBuildID=80;ANN=A|sequence_feature|MODERATE|CFHR3|CFHR3|glycosylation-site:N-linked_(GlcNAc...)|NM_021023.5|protein_coding|4/5|c.613+346G>A||||||,A|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_021023.5|protein_coding|4/5|c.613+346G>A||||||,A|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_001166624.1|protein_coding|3/4|c.431-1301G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1654;p3_1000G_AF=0.330272;p3_1000G_AFR_AF=0.4123;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=13846;p3_1000G_EAS_AF=0.5317;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196757874;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,16:41:99:0|1:196788744_G_A:597,0,1525
chr1	196788751	rs387107	G	T	565.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.287;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.209;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=0.833;QD=13.47;ReadPosRankSum=-0.486;SOR=0.503;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs387107;dbSNPBuildID=80;ANN=T|sequence_feature|MODERATE|CFHR3|CFHR3|glycosylation-site:N-linked_(GlcNAc...)|NM_021023.5|protein_coding|4/5|c.613+353G>T||||||,T|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_021023.5|protein_coding|4/5|c.613+353G>T||||||,T|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_001166624.1|protein_coding|3/4|c.431-1294G>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1504;p3_1000G_AF=0.300319;p3_1000G_AFR_AF=0.3048;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=13947;p3_1000G_EAS_AF=0.5317;p3_1000G_EUR_AF=0.2147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196757881;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,16:42:99:0|1:196788744_G_A:594,0,1565
chr1	196789648	rs384032	G	A	44.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.6;MQRankSum=-0.674;QD=11.2;ReadPosRankSum=-0.319;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs384032;dbSNPBuildID=80;ANN=A|sequence_feature|MODERATE|CFHR3|CFHR3|glycosylation-site:N-linked_(GlcNAc...)|NM_021023.5|protein_coding|4/5|c.614-397G>A||||||,A|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_021023.5|protein_coding|4/5|c.614-397G>A||||||,A|intron_variant|MODIFIER|CFHR3|CFHR3|transcript|NM_001166624.1|protein_coding|3/4|c.431-397G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1659;p3_1000G_AF=0.33127;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=9011;p3_1000G_EAS_AF=0.5317;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196758778;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:25:73,0,25
chr1	196825389	rs442759	C	T	160.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs442759;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|1/5|c.59-88C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=2366;p3_1000G_AF=0.472444;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=11612;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196794519;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:189,15,0
chr1	196825737	rs372075	G	A	430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.542;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.456;SOR=0.83;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372075;dbSNPBuildID=80;ANN=A|sequence_feature|LOW|CFHR1|CFHR1|domain:Sushi_2|NM_002113.2|protein_coding|2/5|c.253+66G>A||||||,A|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|2/5|c.253+66G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=690;p3_1000G_AF=0.13778;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=11249;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196794867;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,20:51:99:459,0,948
chr1	196825779	rs409549	G	C	1346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.53;SOR=2.133;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs409549;dbSNPBuildID=80;ANN=C|sequence_feature|LOW|CFHR1|CFHR1|domain:Sushi_2|NM_002113.2|protein_coding|2/5|c.253+108G>C||||||,C|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|2/5|c.253+108G>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=2367;p3_1000G_AF=0.472644;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=11443;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196794909;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1375,117,0
chr1	196826714	rs111662284	C	T	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.931;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.349;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111662284;dbSNPBuildID=132;ANN=T|sequence_feature|LOW|CFHR1|CFHR1|domain:Sushi_2|NM_002113.2|protein_coding|2/5|c.254-115C>T||||||,T|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|2/5|c.254-115C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=425;p3_1000G_AF=0.0848642;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=10939;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196795844;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0644;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,6:12:99:0|1:196826714_C_T:184,0,184
chr1	196826719	rs424722	A	G	543.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs424722;dbSNPBuildID=80;ANN=G|sequence_feature|LOW|CFHR1|CFHR1|domain:Sushi_2|NM_002113.2|protein_coding|2/5|c.254-110A>G||||||,G|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|2/5|c.254-110A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=2372;p3_1000G_AF=0.473642;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=10950;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196795849;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:196826714_C_T:572,42,0
chr1	196827054	rs399507	G	A	1327.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=2.007;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs399507;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|3/5|c.430+49G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=2371;p3_1000G_AF=0.473442;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=11148;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196796184;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2132,1532;ESP6500_AA_GTC=878,376,578;ESP6500_CDS_SIZES=NM_002113.2:993;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=30;ESP6500_EA_AC=3318,4880;ESP6500_EA_GTC=1001,1316,1782;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002113.2:intron;ESP6500_GL=CFHR1;ESP6500_GRCh38_POSITION=1:196827054;ESP6500_GTC=1879,1692,2360;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002113.2:c.430+49G>A;ESP6500_MAF=40.4733,41.8122,45.945;ESP6500_TAC=5450,6412	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1356,132,0
chr1	196827110	rs438781	T	A	704.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs438781;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|3/5|c.430+105T>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=2489;p3_1000G_AF=0.497005;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=12018;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196796240;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:733,63,0
chr1	196827993	rs677961	C	T	677.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.28;QD=28.24;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs677961;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|3/5|c.431-77C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=2373;p3_1000G_AF=0.473842;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=11023;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196797123;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:706,72,0
chr1	196828108	rs425757	C	T	1201.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.61;QD=29.85;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs425757;dbSNPBuildID=80;ANN=T|missense_variant|MODERATE|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|4/6|c.469C>T|p.His157Tyr|583/1297|469/993|157/330||;ESP6500_AA=C;ESP6500_AA_AC=1612,2018;ESP6500_AA_GTC=708,196,911;ESP6500_CDS_SIZES=NM_002113.2:993;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=69;ESP6500_EA_AC=2010,6202;ESP6500_EA_GTC=865,280,2961;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002113.2:missense;ESP6500_GL=CFHR1;ESP6500_GRCh38_POSITION=1:196828108;ESP6500_GS=83;ESP6500_GTC=1573,476,3872;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002113.2:c.469C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002113.2:p.(H157Y);ESP6500_MAF=24.4764,44.4077,30.586;ESP6500_PH=benign:0.142;ESP6500_TAC=3622,8220	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:84:1|1:196828108_C_T:1230,84,0
chr1	196828114	rs410232;rs113811987	C	G	1166.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.93;QD=32.01;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs113811987;dbSNPBuildID=80;ANN=G|missense_variant|MODERATE|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|4/6|c.475C>G|p.Leu159Val|589/1297|475/993|159/330||;ESP6500_AA=C;ESP6500_AA_AC=1508,2082;ESP6500_AA_GTC=627,254,914;ESP6500_CDS_SIZES=NM_002113.2:993;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=72;ESP6500_EA_AC=1895,6293;ESP6500_EA_GTC=790,315,2989;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002113.2:missense;ESP6500_GL=CFHR1;ESP6500_GRCh38_POSITION=1:196828114;ESP6500_GS=32;ESP6500_GTC=1417,569,3903;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002113.2:c.475C>G;ESP6500_HGVS_PROTEIN_VAR=NM_002113.2:p.(L159V);ESP6500_MAF=23.1436,42.0056,28.8929;ESP6500_PH=benign:0.0;ESP6500_TAC=3403,8375	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:81:1|1:196828108_C_T:1195,81,0
chr1	196828162	rs388862	G	C	293.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.77;QD=31.27;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs388862;dbSNPBuildID=80;ANN=C|missense_variant|MODERATE|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|4/6|c.523G>C|p.Glu175Gln|637/1297|523/993|175/330||	GT:AD:DP:GQ:PL	1/1:0,8:8:24:322,24,0
chr1	196828227	rs3201739;rs76835795	A	G	159.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.16;QD=31.98;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3201739;dbSNPBuildID=131,129;ANN=G|synonymous_variant|LOW|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|4/6|c.588A>G|p.Thr196Thr|702/1297|588/993|196/330||;ESP6500_AA=A;ESP6500_AA_AC=1322,2228;ESP6500_AA_GTC=545,232,998;ESP6500_CDS_SIZES=NM_002113.2:993;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=90;ESP6500_EA_AC=1631,6527;ESP6500_EA_GTC=669,293,3117;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002113.2:coding-synonymous;ESP6500_GL=CFHR1;ESP6500_GRCh38_POSITION=1:196828227;ESP6500_GTC=1214,525,4115;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002113.2:c.588A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002113.2:p.(T196);ESP6500_MAF=19.9926,37.2394,25.2221;ESP6500_TAC=2953,8755	GT:AD:DP:GQ:PL	1/1:0,5:5:15:188,15,0
chr1	196828363	rs28369298	T	C	72.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.1;QD=24.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28369298;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|4/5|c.607+117T>C||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:100,9,0
chr1	196830561	rs12406079	G	A	1266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.862;ClippingRankSum=0;DP=120;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.57;MQRankSum=-1.794;QD=10.56;ReadPosRankSum=0.337;SOR=0.672;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12406079;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|5/6|c.669G>A|p.Pro223Pro|783/1297|669/993|223/330||;p3_1000G_AA=-|||;p3_1000G_AC=477;p3_1000G_AF=0.0952476;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=12673;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196799691;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=296,3416;ESP6500_AA_GTC=91,114,1651;ESP6500_CDS_SIZES=NM_002113.2:993;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=81;ESP6500_EA_AC=1259,6987;ESP6500_EA_GTC=278,703,3142;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002113.2:coding-synonymous;ESP6500_GL=CFHR1;ESP6500_GRCh38_POSITION=1:196830561;ESP6500_GTC=369,817,4793;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002113.2:c.669G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002113.2:p.(P223);ESP6500_MAF=15.268,7.9741,13.0038;ESP6500_TAC=1555,10403	GT:AD:DP:GQ:PL	0/1:67,53:120:99:1295,0,1781
chr1	196831912	rs4230	G	T	1626.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.65;QD=28.05;SOR=1.278;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4230;dbSNPBuildID=36;ANN=T|synonymous_variant|LOW|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|6/6|c.906G>T|p.Arg302Arg|1020/1297|906/993|302/330||;p3_1000G_AA=-|||;p3_1000G_AC=2541;p3_1000G_AF=0.507388;p3_1000G_AFR_AF=0.6157;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=12798;p3_1000G_EAS_AF=0.5437;p3_1000G_EUR_AF=0.4463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196801042;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2442,1332;ESP6500_AA_GTC=1044,354,489;ESP6500_CDS_SIZES=NM_002113.2:993;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=127;ESP6500_EA_AC=3358,4906;ESP6500_EA_GTC=1015,1328,1789;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002113.2:coding-synonymous;ESP6500_GL=CFHR1;ESP6500_GRCh38_POSITION=1:196831912;ESP6500_GTC=2059,1682,2278;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002113.2:c.906G>T;ESP6500_HGVS_PROTEIN_VAR=NM_002113.2:p.(R302);ESP6500_MAF=40.6341,35.2941,48.1808;ESP6500_TAC=5800,6238	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1655,174,0
chr1	196831948	rs414628	A	T	1313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.32;QD=29.19;SOR=1.714;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs414628;dbSNPBuildID=80;ANN=T|synonymous_variant|LOW|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|6/6|c.942A>T|p.Arg314Arg|1056/1297|942/993|314/330||;p3_1000G_AA=-|||;p3_1000G_AC=2122;p3_1000G_AF=0.423722;p3_1000G_AFR_AF=0.326;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=13037;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.4433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196801078;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1425,2329;ESP6500_AA_GTC=530,365,982;ESP6500_CDS_SIZES=NM_002113.2:993;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=80;ESP6500_EA_AC=3341,4909;ESP6500_EA_GTC=1008,1325,1792;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002113.2:coding-synonymous;ESP6500_GL=CFHR1;ESP6500_GRCh38_POSITION=1:196831948;ESP6500_GTC=1538,1690,2774;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002113.2:c.942A>T;ESP6500_HGVS_PROTEIN_VAR=NM_002113.2:p.(R314);ESP6500_MAF=40.497,37.9595,39.7034;ESP6500_TAC=4766,7238	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1342,135,0
chr1	196832060	rs390679	C	A	279.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.35;QD=31.09;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs390679;dbSNPBuildID=80;ANN=A|3_prime_UTR_variant|MODIFIER|CFHR1|CFHR1|transcript|NM_002113.2|protein_coding|6/6|c.*61C>A|||||61|;p3_1000G_AA=-|||;p3_1000G_AC=2121;p3_1000G_AF=0.423522;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=12964;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196801190;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:308,27,0
chr1	196905226	rs10801578	G	T	1037.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.8;QD=28.05;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10801578;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding|3/10|c.375G>T|p.Glu125Asp|512/2181|375/1737|125/578||,T|missense_variant|MODERATE|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding|3/10|c.372G>T|p.Glu124Asp|509/2178|372/1734|124/577||,T|sequence_feature|LOW|CFHR4|CFHR4|domain:Sushi_6|NM_006684.4|protein_coding|2/5|c.256+2611G>T||||||,T|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding|2/5|c.256+2611G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4980;p3_1000G_AF=0.994409;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17371;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196874356;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1066,111,0
chr1	196907328	rs7417769	A	G	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.086;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.525;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=0;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7417769;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding|5/10|c.629A>G|p.Asn210Ser|766/2181|629/1737|210/578||,G|missense_variant|MODERATE|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding|5/10|c.626A>G|p.Asn209Ser|763/2178|626/1734|209/577||,G|sequence_feature|LOW|CFHR4|CFHR4|domain:Sushi_6|NM_006684.4|protein_coding|2/5|c.256+4713A>G||||||,G|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding|2/5|c.256+4713A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.2095;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=15001;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.6839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196876458;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,12:31:99:277,0,555
chr1	196914339	rs80092366	T	A	240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.314;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.52;ReadPosRankSum=1.43;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80092366;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding|7/9|c.1181-156T>A||||||,A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding|7/9|c.1178-156T>A||||||,A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding|3/5|c.440-156T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=338;p3_1000G_AF=0.067492;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=13707;p3_1000G_EAS_AF=0.1151;p3_1000G_EUR_AF=0.1203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196883469;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:99:269,0,111
chr1	196914944	rs201089095	A	AT	16.82	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.266;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.15;MQRankSum=0.317;QD=0.73;ReadPosRankSum=1.14;SOR=0.527;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201089095;dbSNPBuildID=137;ANN=AT|sequence_feature|MODERATE|CFHR4|CFHR4|glycosylation-site:N-linked_(GlcNAc...)|NM_001201551.1|protein_coding|8/9|c.1355-12_1355-11insT||||||,AT|sequence_feature|MODERATE|CFHR4|CFHR4|glycosylation-site:N-linked_(GlcNAc...)|NM_006684.4|protein_coding|4/5|c.617-12_617-11insT||||||,AT|splice_region_variant&intron_variant|LOW|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding|8/9|c.1358-4dupT||||||INFO_REALIGN_3_PRIME,AT|splice_region_variant&intron_variant|LOW|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding|8/9|c.1355-4dupT||||||INFO_REALIGN_3_PRIME,AT|splice_region_variant&intron_variant|LOW|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding|4/5|c.617-4dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=ttt?ttttt|TTTTTTTT|TTTTTTTTT|complex_deletion;p3_1000G_AC=1085;p3_1000G_AF=0.216653;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=14342;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.1551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196884074;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=INDEL;ESP6500_AA_AC=865,2969;ESP6500_AA_GTC=23,819,1075;ESP6500_CDS_SIZES=NM_006684.4:996,NM_001201551.1:1734,NM_001201550.2:1737;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DP=21;ESP6500_EA_AC=1258,6000;ESP6500_EA_GTC=9,1240,2380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006684.4:intron,NM_001201551.1:intron,NM_001201550.2:intron;ESP6500_GL=CFHR4;ESP6500_GRCh38_POSITION=1:196914944;ESP6500_GTC=32,2059,3455;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006684.4:c.617-12_617-11insT,NM_001201551.1:c.1355-12_1355-11insT,NM_001201550.2:c.1358-12_1358-11insT;ESP6500_MAF=17.3326,22.5613,19.1399;ESP6500_TAC=2123,8969	GT:AD:DP:GQ:PL	0/1:19,4:23:54:54,0,499
chr1	196915128	rs150845796	A	T	432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.43;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.678;MLEAC=1;MLEAF=0.5;MQ=42.52;MQRankSum=-2.623;QD=7.73;ReadPosRankSum=0.72;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150845796;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding|9/10|c.1530A>T|p.Pro510Pro|1667/2181|1530/1737|510/578||,T|synonymous_variant|LOW|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding|9/10|c.1527A>T|p.Pro509Pro|1664/2178|1527/1734|509/577||,T|synonymous_variant|LOW|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding|5/6|c.789A>T|p.Pro263Pro|926/1440|789/996|263/331||	GT:AD:DP:GQ:PL	0/1:36,20:56:99:461,0,917
chr1	196915160	rs394413	T	A	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.821;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=5.926;MLEAC=1;MLEAF=0.5;MQ=41.34;MQRankSum=-1.359;QD=7.39;ReadPosRankSum=0.098;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200244837;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding|9/9|c.1540+22T>A||||||,A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding|9/9|c.1537+22T>A||||||,A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding|5/5|c.799+22T>A||||||	GT:AD:DP:GQ:PL	0/1:25,15:40:99:324,0,743
chr1	196918144	rs3795341	G	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.192;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-1.377;SOR=1.755;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795341;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding|9/9|c.1541-66G>A||||||,A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding|9/9|c.1538-66G>A||||||,A|intron_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding|5/5|c.800-66G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=831;p3_1000G_AF=0.165935;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=17871;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196887274;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:189,0,308
chr1	196919368	rs200629795	T	G	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.63;MQRankSum=-0.967;QD=14.92;ReadPosRankSum=-0.967;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200629795;dbSNPBuildID=137;ANN=G|downstream_gene_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding||c.*962T>G|||||655|,G|downstream_gene_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding||c.*962T>G|||||655|,G|downstream_gene_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding||c.*962T>G|||||655|,G|intergenic_region|MODIFIER|CFHR4-CFHR2|CFHR4-CFHR2|intergenic_region|CFHR4-CFHR2|||n.196919368T>G||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:29:73,0,29
chr1	196919499	rs12238999	C	A	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.08;MQRankSum=-2.515;QD=10.31;ReadPosRankSum=-0.431;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12238999;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201550.2|protein_coding||c.*1093C>A|||||786|,A|downstream_gene_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_001201551.1|protein_coding||c.*1093C>A|||||786|,A|downstream_gene_variant|MODIFIER|CFHR4|CFHR4|transcript|NM_006684.4|protein_coding||c.*1093C>A|||||786|,A|intergenic_region|MODIFIER|CFHR4-CFHR2|CFHR4-CFHR2|intergenic_region|CFHR4-CFHR2|||n.196919499C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=832;p3_1000G_AF=0.166134;p3_1000G_AFR_AF=0.1967;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=17409;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.1123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196888629;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:59:121,0,59
chr1	196951018	rs4085749	C	T	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.809;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.447;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4085749;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|CFHR2|CFHR2|transcript|NM_005666.3|protein_coding|3/5|c.420C>T|p.Cys140Cys|533/1072|420/813|140/270||,T|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_001312672.1|protein_coding|1/2|c.59-6873C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1627;p3_1000G_AF=0.32488;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=16168;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196920148;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=311,4095;ESP6500_AA_GTC=13,285,1905;ESP6500_CDS_SIZES=NM_005666.2:813;ESP6500_CG=1.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=101;ESP6500_EA_AC=1904,6696;ESP6500_EA_GTC=223,1458,2619;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005666.2:coding-synonymous;ESP6500_GL=CFHR2;ESP6500_GRCh38_POSITION=1:196951018;ESP6500_GTC=236,1743,4524;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005666.2:c.420C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005666.2:p.(C140);ESP6500_MAF=22.1395,7.0586,17.0306;ESP6500_TAC=2215,10791	GT:AD:DP:GQ:PL	0/1:13,9:22:99:239,0,426
chr1	196951048	rs3828032	C	T	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.863;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.451;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828032;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_005666.3|protein_coding|3/4|c.430+20C>T||||||,T|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_001312672.1|protein_coding|1/2|c.59-6843C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1607;p3_1000G_AF=0.320887;p3_1000G_AFR_AF=0.4675;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=16751;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.3111;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196920178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1836,2570;ESP6500_AA_GTC=398,1040,765;ESP6500_CDS_SIZES=NM_005666.2:813;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=71;ESP6500_EA_AC=2655,5945;ESP6500_EA_GTC=422,1811,2067;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005666.2:intron;ESP6500_GL=CFHR2;ESP6500_GRCh38_POSITION=1:196951048;ESP6500_GTC=820,2851,2832;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005666.2:c.430+20C>T;ESP6500_MAF=30.8721,41.6704,34.5302;ESP6500_TAC=4491,8515	GT:AD:DP:GQ:PL	0/1:8,9:17:99:285,0,246
chr1	196951169	rs3790414	T	A	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.319;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3790414;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_005666.3|protein_coding|3/4|c.430+141T>A||||||,A|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_001312672.1|protein_coding|1/2|c.59-6722T>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=1832;p3_1000G_AF=0.365815;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=17093;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196920299;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:30:72,0,30
chr1	196957826	rs3748556	C	T	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.711;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=-1.079;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748556;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_005666.3|protein_coding|3/4|c.431-65C>T||||||,T|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_001312672.1|protein_coding|1/2|c.59-65C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1862;p3_1000G_AF=0.371805;p3_1000G_AFR_AF=0.6536;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=17327;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.3121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196926956;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:205,0,381
chr1	196957843	rs3748555	C	A	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.133;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.891;SOR=0.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748555;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_005666.3|protein_coding|3/4|c.431-48C>A||||||,A|intron_variant|MODIFIER|CFHR2|CFHR2|transcript|NM_001312672.1|protein_coding|1/2|c.59-48C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1607;p3_1000G_AF=0.320887;p3_1000G_AFR_AF=0.4675;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=17096;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.3111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196926973;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1831,2567;ESP6500_AA_GTC=404,1023,772;ESP6500_CDS_SIZES=NM_005666.2:813;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=37;ESP6500_EA_AC=2643,5955;ESP6500_EA_GTC=421,1801,2077;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005666.2:intron;ESP6500_GL=CFHR2;ESP6500_GRCh38_POSITION=1:196957843;ESP6500_GTC=825,2824,2849;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005666.2:c.431-48C>A;ESP6500_MAF=30.7397,41.6326,34.426;ESP6500_TAC=4474,8522	GT:AD:DP:GQ:PL	0/1:13,10:23:99:270,0,370
chr1	196977739	rs3748557	T	A	785.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.858;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.138;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.133;SOR=0.983;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748557;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CFHR5|CFHR5|transcript|NM_030787.3|protein_coding|1/9|c.58+17T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=790;p3_1000G_AF=0.157748;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=18019;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.2465;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196946869;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=375,4031;ESP6500_AA_GTC=15,345,1843;ESP6500_CDS_SIZES=NM_030787.3:1710;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=116;ESP6500_EA_AC=2030,6570;ESP6500_EA_GTC=237,1556,2507;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030787.3:intron;ESP6500_GL=CFHR5;ESP6500_GRCh38_POSITION=1:196977739;ESP6500_GTC=252,1901,4350;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_030787.3:c.58+17T>A;ESP6500_MAF=23.6047,8.5111,18.4915;ESP6500_TAC=2405,10601	GT:AD:DP:GQ:PL	0/1:23,31:54:99:814,0,565
chr1	196983138	rs45489701	C	T	1185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.025;SOR=0.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45489701;dbSNPBuildID=127;ANN=T|sequence_feature|LOW|CFHR5|CFHR5|domain:Sushi_2|NM_030787.3|protein_coding|2/9|c.253+59C>T||||||,T|intron_variant|MODIFIER|CFHR5|CFHR5|transcript|NM_030787.3|protein_coding|2/9|c.253+59C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=914;p3_1000G_AF=0.182508;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=17016;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.2465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196952268;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1214,0,837
chr1	196998328	rs1332664	G	T	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.789;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.799;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1332664;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|CFHR5|CFHR5|transcript|NM_030787.3|protein_coding|7/9|c.1147+24G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1533;p3_1000G_AF=0.30611;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=13936;p3_1000G_EAS_AF=0.6667;p3_1000G_EUR_AF=0.175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196967458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=245,4161;ESP6500_AA_GTC=12,221,1970;ESP6500_CDS_SIZES=NM_030787.3:1710;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=29;ESP6500_EA_AC=1264,7332;ESP6500_EA_GTC=98,1068,3132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030787.3:intron;ESP6500_GL=CFHR5;ESP6500_GRCh38_POSITION=1:196998328;ESP6500_GTC=110,1289,5102;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_030787.3:c.1147+24G>T;ESP6500_MAF=14.7045,5.5606,11.6059;ESP6500_TAC=1509,11493	GT:AD:DP:GQ:PL	0/1:7,4:11:92:92,0,219
chr1	197039467	rs5990	A	C	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.882;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5990;dbSNPBuildID=52;ANN=C|intron_variant|MODIFIER|F13B|F13B|transcript|NM_001994.2|protein_coding|11/11|c.1953-56T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2629;p3_1000G_AF=0.52496;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=13673;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197008597;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=313,1071;ESP6500_AA_GTC=41,231,420;ESP6500_CDS_SIZES=NM_001994.2:1986;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=83;ESP6500_EA_AC=1472,1704;ESP6500_EA_GTC=364,744,480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001994.2:intron;ESP6500_GL=F13B;ESP6500_GRCh38_POSITION=1:197039467;ESP6500_GTC=405,975,900;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001994.2:c.1953-56T>G;ESP6500_MAF=46.3476,22.6156,39.1447;ESP6500_TAC=1785,2775	GT:AD:DP:GQ:PL	0/1:6,8:14:99:192,0,106
chr1	197040668	rs5998;258504	A	G	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.373;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.897;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5998;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|F13B|F13B|transcript|NM_001994.2|protein_coding|11/12|c.1806T>C|p.Asn602Asn|1850/2217|1806/1986|602/661||;p3_1000G_AA=A|||;p3_1000G_AC=2629;p3_1000G_AF=0.52496;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=16714;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197009798;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1010,3390;ESP6500_AA_AGE=369.3+/-319.0;ESP6500_AA_GTC=137,736,1327;ESP6500_CDS_SIZES=NM_001994.2:1986;ESP6500_CG=-4.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=57;ESP6500_EA_AC=4038,4552;ESP6500_EA_AGE=551.5+/-385.9;ESP6500_EA_GTC=967,2104,1224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001994.2:coding-synonymous;ESP6500_GL=F13B;ESP6500_GRCh38_POSITION=1:197040668;ESP6500_GTC=1104,2840,2551;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001994.2:c.1806T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001994.2:p.(N602);ESP6500_MAF=47.0081,22.9545,38.8607;ESP6500_TAC=5048,7942;CLINVAR_AF_ESP=0.3886;CLINVAR_ALLELEID=249586;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0040234,MedGen:C2750481,OMIM:613235|MedGen:CN169374;CLINVAR_CLNDN=Factor_XIII_subunit_B_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.197040668A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3234;CLINVAR_GENEINFO=F13B:2165;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5998	GT:AD:DP:GQ:PL	0/1:12,20:32:99:486,0,277
chr1	197057542	rs1759009	A	G	361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1759009;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|F13B|F13B|transcript|NM_001994.2|protein_coding|5/11|c.806-77T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4348;p3_1000G_AF=0.868211;p3_1000G_AFR_AF=0.6868;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=18126;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197026672;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:390,33,0
chr1	197061071	rs5997;258505	T	C	336.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5997;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|F13B|F13B|transcript|NM_001994.2|protein_coding|4/12|c.456A>G|p.Thr152Thr|500/2217|456/1986|152/661||;p3_1000G_AA=C|||;p3_1000G_AC=3925;p3_1000G_AF=0.783746;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=13344;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197030201;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2034,2372;ESP6500_AA_AGE=592.9+/-387.9;ESP6500_AA_GTC=477,1080,646;ESP6500_CDS_SIZES=NM_001994.2:1986;ESP6500_CG=-3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=61;ESP6500_EA_AC=7799,799;ESP6500_EA_AGE=183.6+/-231.8;ESP6500_EA_GTC=3536,727,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001994.2:coding-synonymous;ESP6500_GL=F13B;ESP6500_GRCh38_POSITION=1:197061071;ESP6500_GTC=4013,1807,682;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001994.2:c.456A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001994.2:p.(T152);ESP6500_MAF=9.2929,46.1643,24.3848;ESP6500_TAC=9833,3171;CLINVAR_ALLELEID=249588;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0040234,MedGen:C2750481,OMIM:613235|MedGen:CN169374;CLINVAR_CLNDN=Factor_XIII_subunit_B_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.197061071T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3245;CLINVAR_GENEINFO=F13B:2165;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5997	GT:AD:DP:GQ:PL	1/1:0,11:11:33:365,33,0
chr1	197061891	rs6003;16520	C	T	976.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.13;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6003;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|F13B|F13B|transcript|NM_001994.2|protein_coding|3/12|c.344G>A|p.Arg115His|388/2217|344/1986|115/661||;p3_1000G_AA=C|||;p3_1000G_AC=3815;p3_1000G_AF=0.761781;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=15675;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197031021;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8988;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1804,2602;ESP6500_AA_AGE=529.0+/-372.6;ESP6500_AA_GTC=383,1038,782;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...2165&amp%3Brs...6003|http://omim.org/entry/134580#0003;ESP6500_CDS_SIZES=NM_001994.2:1986;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=111;ESP6500_EA_AC=7801,799;ESP6500_EA_AGE=782.0+/-407.6;ESP6500_EA_GTC=3536,729,35;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001994.2:missense;ESP6500_GL=F13B;ESP6500_GRCh38_POSITION=1:197061891;ESP6500_GS=29;ESP6500_GTC=3919,1767,817;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001994.2:c.344G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001994.2:p.(R115H);ESP6500_MAF=9.2907,40.9442,26.1495;ESP6500_PH=benign:0.0;ESP6500_TAC=9605,3401;CLINVAR_ALLELEID=31559;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0040234,MedGen:C2750481,OMIM:613235|MedGen:C4016042|MedGen:CN169374;CLINVAR_CLNDN=Factor_XIII_subunit_B_deficiency|Venous_thrombosis,_susceptibility_to|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.197061891C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3254|OMIM_Allelic_Variant:134580.0003|UniProtKB_(protein):P05160#VAR_013931;CLINVAR_GENEINFO=F13B:2165;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6003	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1005,108,0
chr1	197084243	rs12677;294591	G	A	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12677;dbSNPBuildID=52;ANN=A|3_prime_UTR_variant|MODIFIER|ASPM|ASPM|transcript|NM_018136.4|protein_coding|28/28|c.*81C>T|||||81|,A|3_prime_UTR_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|27/27|c.*81C>T|||||81|;p3_1000G_AA=A|||;p3_1000G_AC=3918;p3_1000G_AF=0.782348;p3_1000G_AFR_AF=0.3782;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=16567;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197053373;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;CLINVAR_ALLELEID=278274;CLINVAR_CLNDISDB=MedGen:CN239428;CLINVAR_CLNDN=Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197084243G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3265;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12677	GT:AD:DP:GQ:PL	1/1:0,19:19:57:630,57,0
chr1	197084431	rs200839523;rs762994390	T	TA	169.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.621;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.721;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.171;SOR=1.165;INS;HET;VARTYPE=INS;dbSNP138_ID=rs200839523;dbSNPBuildID=144,137;ANN=TA|splice_region_variant&intron_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|27/27|c.10332-6dupT||||||,TA|splice_region_variant&intron_variant|LOW|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|26/26|c.5577-6dupT||||||	GT:AD:DP:GQ:PL	0/1:9,12:21:99:207,0,188
chr1	197086795	rs10754213;157775	T	C	512.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10754213;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|27/27|c.10331+8A>G||||||,C|splice_region_variant&intron_variant|LOW|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|26/26|c.5576+8A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3920;p3_1000G_AF=0.782748;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=15291;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197055925;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2014,2388;ESP6500_AA_AGE=596.7+/-388.7;ESP6500_AA_GTC=466,1082,653;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=1.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=129;ESP6500_EA_AC=7798,794;ESP6500_EA_AGE=184.5+/-232.4;ESP6500_EA_GTC=3536,726,34;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:intron,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197086795;ESP6500_GTC=4002,1808,687;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.10331+8A>G,NM_001206846.1:c.5576+8A>G;ESP6500_MAF=9.2412,45.7519,24.4882;ESP6500_TAC=9812,3182;CLINVAR_ALLELEID=167622;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197086795T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3275;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10754213	GT:AD:DP:GQ:PL	1/1:0,17:17:51:541,51,0
chr1	197090798	rs4915316	A	G	274.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4915316;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_018136.4|protein_coding|23/27|c.9636+52T>C||||||,G|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|22/26|c.4881+52T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3788;p3_1000G_AF=0.75639;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=14762;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197059928;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=662,1088;ESP6500_AA_GTC=122,418,335;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=28;ESP6500_EA_AC=3610,372;ESP6500_EA_GTC=1640,330,21;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:intron,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197090798;ESP6500_GTC=1762,748,356;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.9636+52T>C,NM_001206846.1:c.4881+52T>C;ESP6500_MAF=9.342,37.8286,25.471;ESP6500_TAC=4272,1460	GT:AD:DP:GQ:PL	1/1:0,7:7:21:303,21,0
chr1	197094222	rs41304071;157902	C	T	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.732;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=0.135;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41304071;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_018136.4|protein_coding|19/27|c.8988-42G>A||||||,T|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|18/26|c.4233-42G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=14815;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197063352;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=435,3935;ESP6500_AA_GTC=27,381,1777;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=25;ESP6500_EA_AC=3609,4931;ESP6500_EA_GTC=778,2053,1439;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:intron,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197094222;ESP6500_GTC=805,2434,3216;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.8988-42G>A,NM_001206846.1:c.4233-42G>A;ESP6500_MAF=42.26,9.9542,31.3246;ESP6500_TAC=4044,8866;CLINVAR_AF_ESP=0.3133;CLINVAR_AF_EXAC=0.34806;CLINVAR_AF_TGP=0.2143;CLINVAR_ALLELEID=167749;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.197094222C>T;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=41304071	GT:AD:DP:GQ:PL	0/1:5,3:8:67:67,0,152
chr1	197101312	rs3762271;21611	G	T	901.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.313;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=2.33;SOR=0.774;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762271;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|ASPM|ASPM|transcript|NM_018136.4|protein_coding|18/28|c.7939C>A|p.Leu2647Ile|8196/10888|7939/10434|2647/3477||,T|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|17/26|c.4066-5148C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=18268;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.4105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197070442;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=460,3942;ESP6500_AA_AGE=214.5+/-233.7;ESP6500_AA_GTC=27,406,1768;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...3762271;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=62;ESP6500_EA_AC=3737,4859;ESP6500_EA_AGE=528.1+/-381.3;ESP6500_EA_GTC=816,2105,1377;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018136.4:missense,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197101312;ESP6500_GS=5,.;ESP6500_GTC=843,2511,3145;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.7939C>A,NM_001206846.1:c.4066-5148C>A;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(L2647I),.;ESP6500_MAF=43.4737,10.4498,32.2896;ESP6500_PH=probably-damaging:0.992,.;ESP6500_TAC=4197,8801;CLINVAR_AF_ESP=0.3229;CLINVAR_AF_EXAC=0.33989;CLINVAR_AF_TGP=0.2143;CLINVAR_ALLELEID=34463;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197101312G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3313|UniProtKB_(protein):Q8IZT6#VAR_019085;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3762271	GT:AD:DP:GQ:PL	0/1:31,35:66:99:930,0,925
chr1	197101567	rs41310927;21605	T	C	1583.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.825;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.85;ReadPosRankSum=-1.248;SOR=0.78;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41310927;dbSNPBuildID=127;ANN=C|missense_variant|MODERATE|ASPM|ASPM|transcript|NM_018136.4|protein_coding|18/28|c.7684A>G|p.Ser2562Gly|7941/10888|7684/10434|2562/3477||,C|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|17/26|c.4066-5403A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=18944;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.4105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197070697;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=456,3948;ESP6500_AA_AGE=201.8+/-224.7;ESP6500_AA_GTC=27,402,1773;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...41310927;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=62;ESP6500_EA_AC=3718,4878;ESP6500_EA_AGE=513.7+/-378.2;ESP6500_EA_GTC=813,2092,1393;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018136.4:missense,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197101567;ESP6500_GS=56,.;ESP6500_GTC=840,2494,3166;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.7684A>G,NM_001206846.1:c.4066-5403A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(S2562G),.;ESP6500_MAF=43.2527,10.3542,32.1077;ESP6500_PH=probably-damaging:0.997,.;ESP6500_TAC=4174,8826;CLINVAR_AF_ESP=0.3211;CLINVAR_AF_EXAC=0.34089;CLINVAR_AF_TGP=0.2143;CLINVAR_ALLELEID=34457;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197101567T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3320|UniProtKB_(protein):Q8IZT6#VAR_019084;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=41310927	GT:AD:DP:GQ:PGT:PID:PL	0/1:41,43:84:99:0|1:197101567_T_C:1612,0,1622
chr1	197101577	rs41308365;21604	G	A	1429.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.428;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=-0.486;SOR=0.82;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41308365;dbSNPBuildID=127;ANN=A|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|18/28|c.7674C>T|p.Ile2558Ile|7931/10888|7674/10434|2558/3477||,A|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|17/26|c.4066-5413C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=18864;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.4105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197070707;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=462,3944;ESP6500_AA_AGE=214.1+/-233.5;ESP6500_AA_GTC=27,408,1768;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...41308365;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=63;ESP6500_EA_AC=3721,4875;ESP6500_EA_AGE=521.6+/-379.9;ESP6500_EA_GTC=811,2099,1388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:coding-synonymous,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197101577;ESP6500_GTC=838,2507,3156;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.7674C>T,NM_001206846.1:c.4066-5413C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(I2558),.;ESP6500_MAF=43.2876,10.4857,32.172;ESP6500_TAC=4183,8819;CLINVAR_AF_ESP=0.3217;CLINVAR_AF_EXAC=0.34035;CLINVAR_AF_TGP=0.2143;CLINVAR_ALLELEID=34456;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197101577G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3330;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=41308365	GT:AD:DP:GQ:PGT:PID:PL	0/1:42,38:80:99:0|1:197101567_T_C:1458,0,1617
chr1	197101646	rs10922162;21603	C	T	1404.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.025;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=1.609;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.08;SOR=0.531;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10922162;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|18/28|c.7605G>A|p.Val2535Val|7862/10888|7605/10434|2535/3477||,T|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|17/26|c.4066-5482G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1477;p3_1000G_AF=0.294928;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=19365;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.172;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197070776;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP;ESP6500_AA_AC=195,4209;ESP6500_AA_AGE=118.8+/-156.5;ESP6500_AA_GTC=7,181,2014;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...10922162|http://www.ncbi.nlm.nih.gov/pubmed?term...23381943;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=1.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=1298,7296;ESP6500_EA_AGE=254.3+/-279.6;ESP6500_EA_GTC=97,1104,3096;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:coding-synonymous,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197101646;ESP6500_GTC=104,1285,5110;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23381943;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.7605G>A,NM_001206846.1:c.4066-5482G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(V2535),.;ESP6500_MAF=15.1036,4.4278,11.4864;ESP6500_TAC=1493,11505;CLINVAR_AF_ESP=0.1149;CLINVAR_AF_EXAC=0.23960;CLINVAR_AF_TGP=0.2949;CLINVAR_ALLELEID=34455;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197101646C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47905;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10922162	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1433,0,1280
chr1	197101685	rs1412640;21602	T	C	3033.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=0.917;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1412640;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|18/28|c.7566A>G|p.Leu2522Leu|7823/10888|7566/10434|2522/3477||,C|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|17/26|c.4066-5521A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=4086;p3_1000G_AF=0.815895;p3_1000G_AFR_AF=0.497;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=19634;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197070815;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP;ESP6500_AA_AC=2429,1977;ESP6500_AA_AGE=542.5+/-376.0;ESP6500_AA_GTC=668,1093,442;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...1412640;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=-0.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=80;ESP6500_EA_AC=7801,793;ESP6500_EA_AGE=184.0+/-232.1;ESP6500_EA_GTC=3540,721,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:coding-synonymous,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197101685;ESP6500_GTC=4208,1814,478;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.7566A>G,NM_001206846.1:c.4066-5521A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(L2522),.;ESP6500_MAF=9.2274,44.8706,21.3077;ESP6500_TAC=10230,2770;CLINVAR_ALLELEID=34454;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197101685T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3340;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1412640	GT:AD:DP:GQ:PL	1/1:0,87:87:99:3062,260,0
chr1	197101771	rs964201;21599	A	G	2970.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.17;SOR=0.821;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs964201;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|ASPM|ASPM|transcript|NM_018136.4|protein_coding|18/28|c.7480T>C|p.Tyr2494His|7737/10888|7480/10434|2494/3477||,G|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|17/26|c.4066-5607T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=4995;p3_1000G_AF=0.997404;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20241;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197070901;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA_AC=4401,5;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=2198,5,0;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...964201;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=97;ESP6500_EA_AC=8545,51;ESP6500_EA_AGE=33.3+/-86.6;ESP6500_EA_GTC=4247,51,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018136.4:missense,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197101771;ESP6500_GS=83,.;ESP6500_GTC=6445,56,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.7480T>C,NM_001206846.1:c.4066-5607T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(Y2494H),.;ESP6500_MAF=0.5933,0.1135,0.4307;ESP6500_PH=benign:0.001,.;ESP6500_TAC=12946,56;CLINVAR_ALLELEID=34451;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197101771A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3348|UniProtKB_(protein):Q8IZT6#VAR_046760;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=964201	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2999,243,0
chr1	197103290	rs41310925;21593	T	C	1159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.27;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=4.129;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.755;SOR=0.854;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41310925;dbSNPBuildID=127;ANN=C|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|18/28|c.5961A>G|p.Gln1987Gln|6218/10888|5961/10434|1987/3477||,C|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|17/26|c.4066-7126A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=1067;p3_1000G_AF=0.213059;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=21160;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197072420;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA_AC=440,3966;ESP6500_AA_AGE=211.2+/-231.4;ESP6500_AA_GTC=24,392,1787;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...41310925;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=147;ESP6500_EA_AC=3738,4858;ESP6500_EA_AGE=529.5+/-381.6;ESP6500_EA_GTC=817,2104,1377;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:coding-synonymous,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197103290;ESP6500_GTC=841,2496,3164;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.5961A>G,NM_001206846.1:c.4066-7126A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(Q1987),.;ESP6500_MAF=43.4853,9.9864,32.1335;ESP6500_TAC=4178,8824;CLINVAR_AF_ESP=0.3213;CLINVAR_AF_EXAC=0.34078;CLINVAR_AF_TGP=0.2131;CLINVAR_ALLELEID=34445;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197103290T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3355;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=41310925	GT:AD:DP:GQ:PL	0/1:46,39:85:99:1188,0,1220
chr1	197104802	rs2878749;21586	T	C	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.233;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=4.417;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.39;SOR=1.488;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2878749;dbSNPBuildID=101;ANN=C|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|18/28|c.4449A>G|p.Lys1483Lys|4706/10888|4449/10434|1483/3477||,C|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|17/26|c.4066-8638A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=17830;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197073932;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=463,3941;ESP6500_AA_AGE=194.7+/-219.5;ESP6500_AA_GTC=32,399,1771;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...2878749;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=52;ESP6500_EA_AC=3724,4860;ESP6500_EA_AGE=518.5+/-379.3;ESP6500_EA_GTC=813,2098,1381;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:coding-synonymous,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197104802;ESP6500_GTC=845,2497,3152;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.4449A>G,NM_001206846.1:c.4066-8638A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(K1483),.;ESP6500_MAF=43.383,10.5132,32.2374;ESP6500_TAC=4187,8801;CLINVAR_AF_ESP=0.3224;CLINVAR_AF_EXAC=0.34389;CLINVAR_AF_TGP=0.2145;CLINVAR_ALLELEID=34438;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197104802T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3363;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2878749	GT:AD:DP:GQ:PL	0/1:20,27:47:99:670,0,538
chr1	197122407	rs4915337;21578	A	T	2101.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=1.385;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4915337;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|14/28|c.3579T>A|p.Ser1193Ser|3836/10888|3579/10434|1193/3477||,T|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|14/27|c.3579T>A|p.Ser1193Ser|3836/6133|3579/5679|1193/1892||;p3_1000G_AA=a|||;p3_1000G_AC=3919;p3_1000G_AF=0.782548;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=18581;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197091537;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2012,2394;ESP6500_AA_AGE=560.0+/-380.4;ESP6500_AA_GTC=464,1084,655;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...259266&amp%3Brs...4915337;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=0.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=72;ESP6500_EA_AC=7804,796;ESP6500_EA_AGE=781.7+/-407.6;ESP6500_EA_GTC=3540,724,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:coding-synonymous,NM_001206846.1:coding-synonymous;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197122407;ESP6500_GTC=4004,1808,691;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.3579T>A,NM_001206846.1:c.3579T>A;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(S1193),NM_001206846.1:p.(S1193);ESP6500_MAF=9.2558,45.665,24.5271;ESP6500_TAC=9816,3190;CLINVAR_ALLELEID=34430;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197122407A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3372;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4915337	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2130,207,0
chr1	197132491	rs3737111	T	C	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.967;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737111;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_018136.4|protein_coding|6/27|c.2420-139A>G||||||,C|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|6/26|c.2420-139A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2712;p3_1000G_AF=0.541534;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=11514;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.5;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197101621;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:28:79,0,28
chr1	197133615	rs4915344;95887	A	G	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.381;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.29;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915344;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_018136.4|protein_coding|5/27|c.2174-20T>C||||||,G|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|5/26|c.2174-20T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1501;p3_1000G_AF=0.29972;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=18309;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.172;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197102745;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=193,4211;ESP6500_AA_AGE=105.6+/-144.1;ESP6500_AA_GTC=7,179,2016;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=46;ESP6500_EA_AC=1290,7310;ESP6500_EA_AGE=227.9+/-263.1;ESP6500_EA_GTC=96,1098,3106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:intron,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197133615;ESP6500_GTC=103,1277,5122;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.2174-20T>C,NM_001206846.1:c.2174-20T>C;ESP6500_MAF=15.0,4.3824,11.4042;ESP6500_TAC=1483,11521;CLINVAR_AF_ESP=0.1140;CLINVAR_AF_EXAC=0.24159;CLINVAR_AF_TGP=0.2997;CLINVAR_ALLELEID=101783;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.197133615A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4915344	GT:AD:DP:GQ:PL	0/1:9,12:21:99:320,0,235
chr1	197139912	rs1332663;157788	C	T	338.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.23;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1332663;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_018136.4|protein_coding|3/27|c.1922-41G>A||||||,T|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|3/26|c.1922-41G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3919;p3_1000G_AF=0.782548;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=17564;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197109042;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2017,2385;ESP6500_AA_GTC=472,1073,656;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=42;ESP6500_EA_AC=7797,791;ESP6500_EA_GTC=3539,719,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:intron,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197139912;ESP6500_GTC=4011,1792,692;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.1922-41G>A,NM_001206846.1:c.1922-41G>A;ESP6500_MAF=9.2105,45.8201,24.4496;ESP6500_TAC=9814,3176;CLINVAR_ALLELEID=167635;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.197139912C>T;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1332663	GT:AD:DP:GQ:PL	1/1:0,12:12:36:367,36,0
chr1	197143403	rs6677082;95890	G	A	2469.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=0.772;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6677082;dbSNPBuildID=116;ANN=A|sequence_feature|MODERATE|ASPM|ASPM|modified-residue:Phosphoserine|NM_018136.4|protein_coding|3/28|c.849C>T||||||,A|sequence_feature|MODERATE|ASPM|ASPM|modified-residue:Phosphoserine|NM_001206846.1|protein_coding|3/27|c.849C>T||||||,A|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_018136.4|protein_coding|3/28|c.849C>T|p.Ser283Ser|1106/10888|849/10434|283/3477||,A|synonymous_variant|LOW|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|3/27|c.849C>T|p.Ser283Ser|1106/6133|849/5679|283/1892||;p3_1000G_AA=.|||;p3_1000G_AC=3784;p3_1000G_AF=0.755591;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=18038;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197112533;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1706,2700;ESP6500_AA_AGE=502.4+/-365.2;ESP6500_AA_GTC=345,1016,842;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=81;ESP6500_EA_AC=7797,801;ESP6500_EA_AGE=777.7+/-407.7;ESP6500_EA_GTC=3536,725,38;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:coding-synonymous,NM_001206846.1:coding-synonymous;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197143403;ESP6500_GTC=3881,1741,880;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.849C>T,NM_001206846.1:c.849C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018136.4:p.(S283),NM_001206846.1:p.(S283);ESP6500_MAF=9.3161,38.7199,26.9225;ESP6500_TAC=9503,3501;CLINVAR_ALLELEID=101786;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197143403G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3375;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6677082	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2498,231,0
chr1	197143943	rs1571964;95888	G	A	265.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.58;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1571964;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_018136.4|protein_coding|2/27|c.441+14C>T||||||,A|intron_variant|MODIFIER|ASPM|ASPM|transcript|NM_001206846.1|protein_coding|2/26|c.441+14C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3784;p3_1000G_AF=0.755591;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=14143;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197113073;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1705,2699;ESP6500_AA_AGE=483.3+/-359.7;ESP6500_AA_GTC=347,1011,844;ESP6500_CDS_SIZES=NM_018136.4:10434,NM_001206846.1:5679;ESP6500_CG=1.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=44;ESP6500_EA_AC=7772,802;ESP6500_EA_AGE=756.4+/-407.5;ESP6500_EA_GTC=3526,720,41;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018136.4:intron,NM_001206846.1:intron;ESP6500_GL=ASPM;ESP6500_GRCh38_POSITION=1:197143943;ESP6500_GTC=3873,1731,885;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018136.4:c.441+14C>T,NM_001206846.1:c.441+14C>T;ESP6500_MAF=9.3539,38.7148,26.9764;ESP6500_TAC=9477,3501;CLINVAR_ALLELEID=101784;CLINVAR_CLNDISDB=MedGen:C1837501,OMIM:608716|MedGen:CN169374|MedGen:CN239428;CLINVAR_CLNDN=Primary_autosomal_recessive_microcephaly_5|not_specified|Primary_Microcephaly,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197143943G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3380;CLINVAR_GENEINFO=ASPM:259266;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1571964	GT:AD:DP:GQ:PL	1/1:0,10:10:30:294,30,0
chr1	197159596	rs12128631	G	A	1298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.206;ClippingRankSum=0;DP=109;ExcessHet=3.0103;FS=0.712;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.742;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12128631;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|ZBTB41|ZBTB41|transcript|NM_194314.2|protein_coding|10/10|c.2493C>T|p.Leu831Leu|2562/8474|2493/2730|831/909||,A|non_coding_transcript_exon_variant|MODIFIER|ZBTB41|ZBTB41|transcript|NR_135153.1|pseudogene|11/11|n.2646C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1491;p3_1000G_AF=0.297724;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=19355;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197128726;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=197,4209;ESP6500_AA_AGE=121.3+/-158.8;ESP6500_AA_GTC=7,183,2013;ESP6500_CDS_SIZES=NM_194314.2:2730;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=198;ESP6500_EA_AC=1300,7300;ESP6500_EA_AGE=257.3+/-281.4;ESP6500_EA_GTC=97,1106,3097;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194314.2:coding-synonymous;ESP6500_GL=ZBTB41;ESP6500_GRCh38_POSITION=1:197159596;ESP6500_GTC=104,1289,5110;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_194314.2:c.2493C>T;ESP6500_HGVS_PROTEIN_VAR=NM_194314.2:p.(L831);ESP6500_MAF=15.1163,4.4712,11.5101;ESP6500_TAC=1497,11509	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1327,0,1477
chr1	197172113	rs6428389	A	C	165.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6428389;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ZBTB41|ZBTB41|transcript|NM_194314.2|protein_coding|9/9|c.2074+47T>G||||||,C|intron_variant|MODIFIER|ZBTB41|ZBTB41|transcript|NR_135153.1|pseudogene|10/10|n.2227+47T>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3466;p3_1000G_AF=0.692093;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=10590;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.8459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197141243;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1776,2300;ESP6500_AA_GTC=418,940,680;ESP6500_CDS_SIZES=NM_194314.2:2730;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=8;ESP6500_EA_AC=7310,812;ESP6500_EA_GTC=3299,712,50;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194314.2:intron;ESP6500_GL=ZBTB41;ESP6500_GRCh38_POSITION=1:197172113;ESP6500_GTC=3717,1652,730;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_194314.2:c.2074+47T>G;ESP6500_MAF=9.9975,43.5721,25.5124;ESP6500_TAC=9086,3112	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:197172113_A_C:194,15,0
chr1	197172123	rs10429910	A	C	190.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10429910;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ZBTB41|ZBTB41|transcript|NM_194314.2|protein_coding|9/9|c.2074+37T>G||||||,C|intron_variant|MODIFIER|ZBTB41|ZBTB41|transcript|NR_135153.1|pseudogene|10/10|n.2227+37T>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=1853;p3_1000G_AF=0.370008;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=10623;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197141253;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=616,3554;ESP6500_AA_GTC=64,488,1533;ESP6500_CDS_SIZES=NM_194314.2:2730;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=9;ESP6500_EA_AC=1091,7163;ESP6500_EA_GTC=84,923,3120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194314.2:intron;ESP6500_GL=ZBTB41;ESP6500_GRCh38_POSITION=1:197172123;ESP6500_GTC=148,1411,4653;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_194314.2:c.2074+37T>G;ESP6500_MAF=13.2178,14.7722,13.7395;ESP6500_TAC=1707,10717	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:197172113_A_C:219,18,0
chr1	197175253	rs10801593	T	G	134.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10801593;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|ZBTB41|ZBTB41|transcript|NM_194314.2|protein_coding|7/9|c.1880-138A>C||||||,G|intron_variant|MODIFIER|ZBTB41|ZBTB41|transcript|NR_135153.1|pseudogene|8/10|n.2033-138A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3757;p3_1000G_AF=0.7502;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=11404;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197144383;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:162,12,0
chr1	197328278	rs550098	A	G	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs550098;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_201253.2|protein_coding|1/11|c.71-144A>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257965.1|protein_coding|3/14|c.-137-144A>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001193640.1|protein_coding|1/9|c.71-144A>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257966.1|protein_coding|1/9|c.71-144A>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047563.1|pseudogene|1/12|n.280-144A>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047564.1|pseudogene|1/11|n.280-144A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3695;p3_1000G_AF=0.737819;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=16217;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197297408;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:197328278_A_G:270,18,0
chr1	197328287	rs12042924	T	C	283.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12042924;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_201253.2|protein_coding|1/11|c.71-135T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257965.1|protein_coding|3/14|c.-137-135T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001193640.1|protein_coding|1/9|c.71-135T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257966.1|protein_coding|1/9|c.71-135T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047563.1|pseudogene|1/12|n.280-135T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047564.1|pseudogene|1/11|n.280-135T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=16514;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.4761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197297417;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:197328278_A_G:312,21,0
chr1	197328410	rs12042179;96660	A	T	374.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12042179;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_201253.2|protein_coding|1/11|c.71-12A>T||||||,T|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257965.1|protein_coding|3/14|c.-137-12A>T||||||,T|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001193640.1|protein_coding|1/9|c.71-12A>T||||||,T|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257966.1|protein_coding|1/9|c.71-12A>T||||||,T|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047563.1|pseudogene|1/12|n.280-12A>T||||||,T|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047564.1|pseudogene|1/11|n.280-12A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2019;p3_1000G_AF=0.403155;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=17238;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.4235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197297540;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=378,4012;ESP6500_AA_GTC=25,328,1842;ESP6500_CDS_SIZES=NM_201253.2:4221,NM_001257966.1:2613,NM_001257965.1:4149,NM_001193640.1:3885;ESP6500_CG=0.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=26;ESP6500_EA_AC=3344,5254;ESP6500_EA_GTC=664,2016,1619;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201253.2:intron,NM_001257966.1:intron,NM_001257965.1:intron,NM_001193640.1:intron;ESP6500_GL=CRB1;ESP6500_GRCh38_POSITION=1:197328410;ESP6500_GTC=689,2344,3461;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_201253.2:c.71-12A>T,NM_001257966.1:c.71-12A>T,NM_001257965.1:c.-149A>T,NM_001193640.1:c.71-12A>T;ESP6500_MAF=38.8928,8.6105,28.6572;ESP6500_TAC=3722,9266;CLINVAR_AF_ESP=0.2866;CLINVAR_AF_EXAC=0.44571;CLINVAR_AF_TGP=0.4032;CLINVAR_ALLELEID=102553;CLINVAR_CLNDISDB=MeSH:D057130,MedGen:C0339527,Orphanet:ORPHA65,SNOMED_CT:193413001|MedGen:C1868310,OMIM:172870,Orphanet:ORPHA251295|MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=Leber_congenital_amaurosis|Pigmented_paravenous_chorioretinal_atrophy|not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.197328410A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:250961;CLINVAR_GENEINFO=CRB1:23418;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12042179	GT:AD:DP:GQ:PL	1/1:0,12:12:36:403,36,0
chr1	197347305	rs1337167;263260	T	C	1171.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=2.649;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1337167;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_201253.2|protein_coding|3/11|c.849-35T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257965.1|protein_coding|5/14|c.642-35T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001193640.1|protein_coding|2/9|c.653-9526T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257966.1|protein_coding|3/9|c.849-35T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047563.1|pseudogene|3/12|n.1058-35T>C||||||,C|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047564.1|pseudogene|3/11|n.1058-35T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4203;p3_1000G_AF=0.839257;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=17283;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.7714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197316435;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9008;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3991,415;ESP6500_AA_AGE=203.1+/-225.7;ESP6500_AA_GTC=1813,365,25;ESP6500_CDS_SIZES=NM_201253.2:4221,NM_001257966.1:2613,NM_001257965.1:4149,NM_001193640.1:3885;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=110;ESP6500_EA_AC=6815,1785;ESP6500_EA_AGE=323.5+/-316.1;ESP6500_EA_GTC=2711,1393,196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201253.2:intron,NM_001257966.1:intron,NM_001257965.1:intron,NM_001193640.1:intron;ESP6500_GL=CRB1;ESP6500_GRCh38_POSITION=1:197347305;ESP6500_GTC=4524,1758,221;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201253.2:c.849-35T>C,NM_001257966.1:c.849-35T>C,NM_001257965.1:c.642-35T>C,NM_001193640.1:c.653-9526T>C;ESP6500_MAF=20.7558,9.419,16.9153;ESP6500_TAC=10806,2200;CLINVAR_ALLELEID=249591;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.197347305T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CRB1:23418;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1337167	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1200,105,0
chr1	197356778	rs2786098	T	G	551.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2786098;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_201253.2|protein_coding|4/11|c.989-53T>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257965.1|protein_coding|6/14|c.782-53T>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001193640.1|protein_coding|2/9|c.653-53T>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NM_001257966.1|protein_coding|4/9|c.989-53T>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047563.1|pseudogene|4/12|n.1198-53T>G||||||,G|intron_variant|MODIFIER|CRB1|CRB1|transcript|NR_047564.1|pseudogene|4/11|n.1198-53T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4220;p3_1000G_AF=0.842652;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=18373;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.7783;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197325908;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:580,48,0
chr1	197421238	rs3902057;166956	A	G	3258.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.26;SOR=0.883;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3902057;dbSNPBuildID=108;ANN=G|synonymous_variant|LOW|CRB1|CRB1|transcript|NM_201253.2|protein_coding|6/12|c.1410A>G|p.Leu470Leu|1619/5006|1410/4221|470/1406||,G|synonymous_variant|LOW|CRB1|CRB1|transcript|NM_001257965.1|protein_coding|8/15|c.1203A>G|p.Leu401Leu|1542/5064|1203/4149|401/1382||,G|synonymous_variant|LOW|CRB1|CRB1|transcript|NM_001193640.1|protein_coding|4/10|c.1074A>G|p.Leu358Leu|1283/4670|1074/3885|358/1294||,G|synonymous_variant|LOW|CRB1|CRB1|transcript|NM_001257966.1|protein_coding|6/10|c.1410A>G|p.Leu470Leu|1619/3398|1410/2613|470/870||,G|non_coding_transcript_exon_variant|MODIFIER|CRB1|CRB1|transcript|NR_047563.1|pseudogene|6/13|n.1619A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CRB1|CRB1|transcript|NR_047564.1|pseudogene|6/12|n.1619A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4606;p3_1000G_AF=0.919728;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=20169;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197390368;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3391,1015;ESP6500_AA_AGE=376.1+/-321.9;ESP6500_AA_GTC=1313,765,125;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...23418&amp%3Brs...3902057;ESP6500_CDS_SIZES=NM_201253.2:4221,NM_001257966.1:2613,NM_001257965.1:4149,NM_001193640.1:3885;ESP6500_CG=-12.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=95;ESP6500_EA_AC=8588,12;ESP6500_EA_AGE=8.4+/-32.0;ESP6500_EA_GTC=4288,12,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201253.2:coding-synonymous,NM_001257966.1:coding-synonymous,NM_001257965.1:coding-synonymous,NM_001193640.1:coding-synonymous;ESP6500_GL=CRB1;ESP6500_GRCh38_POSITION=1:197421238;ESP6500_GTC=5601,777,125;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_201253.2:c.1410A>G,NM_001257966.1:c.1410A>G,NM_001257965.1:c.1203A>G,NM_001193640.1:c.1074A>G;ESP6500_HGVS_PROTEIN_VAR=NM_201253.2:p.(L470),NM_001257966.1:p.(L470),NM_001257965.1:p.(L401),NM_001193640.1:p.(L358);ESP6500_MAF=0.1395,23.0368,7.8964;ESP6500_TAC=11979,1027;CLINVAR_ALLELEID=177648;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.197421238A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CRB1:23418;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3902057	GT:AD:DP:GQ:PL	1/1:0,90:90:99:3287,270,0
chr1	197511754	rs78578977	T	C	209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.525;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.73;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=0.124;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78578977;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|22/23|c.1789A>G|p.Met597Val|2127/8377|1789/2328|597/775||,C|non_coding_transcript_exon_variant|MODIFIER|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|19/20|n.1874A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=31;p3_1000G_AF=0.0061901;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=15557;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197480884;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_001195215.1:2328;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=79;ESP6500_EA_AC=0,8598;ESP6500_EA_GTC=0,0,4299;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001195215.1:missense;ESP6500_GL=DENND1B;ESP6500_GRCh38_POSITION=1:197511754;ESP6500_GS=21;ESP6500_GTC=0,2,6500;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001195215.1:c.1789A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001195215.1:p.(M597V);ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_PH=benign:0.27;ESP6500_TAC=2,13002	GT:AD:DP:GQ:PL	0/1:17,11:28:99:238,0,450
chr1	197513037	rs2013617	C	G	317.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2013617;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|20/22|c.1516-84G>C||||||,G|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|17/19|n.1601-84G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4735;p3_1000G_AF=0.945487;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=18986;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197482167;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:346,27,0
chr1	197540895	rs3902061	G	T	683.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3902061;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|19/22|c.1407+64C>A||||||,T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|16/19|n.1492+64C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4756;p3_1000G_AF=0.949681;p3_1000G_AFR_AF=0.8245;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=16962;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197510025;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1165,219;ESP6500_AA_GTC=490,185,17;ESP6500_CDS_SIZES=NM_001195215.1:2328;ESP6500_CG=5.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=123;ESP6500_EA_AC=3177,3;ESP6500_EA_GTC=1587,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001195215.1:intron;ESP6500_GL=DENND1B;ESP6500_GRCh38_POSITION=1:197540895;ESP6500_GTC=2077,188,17;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001195215.1:c.1407+64C>A;ESP6500_MAF=0.0943,15.8237,4.8642;ESP6500_TAC=4342,222	GT:AD:DP:GQ:PL	1/1:0,24:24:72:712,72,0
chr1	197546585	rs4303099	G	A	44.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4303099;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|17/22|c.1281+148C>T||||||,A|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|14/19|n.1366+148C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4075;p3_1000G_AF=0.813698;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=14704;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197515715;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:72,6,0
chr1	197546647	rs4316386	A	T	803.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4316386;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|17/22|c.1281+86T>A||||||,T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|14/19|n.1366+86T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4045;p3_1000G_AF=0.807708;p3_1000G_AFR_AF=0.7519;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=15734;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197515777;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:832,78,0
chr1	197607177	rs11411505;~rs5779882	A	AT	723.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.46;SOR=1.23;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11411505;dbSNPBuildID=126;ANN=AT|splice_region_variant&intron_variant|LOW|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|12/22|c.820-4dupA||||||,AT|splice_region_variant&intron_variant|LOW|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|11/19|n.1098-4dupA||||||,AT|splice_region_variant&intron_variant|LOW|DENND1B|DENND1B|transcript|NM_001300858.1|protein_coding|12/15|c.730-4dupA||||||,AT|splice_region_variant&intron_variant|LOW|DENND1B|DENND1B|transcript|NM_144977.4|protein_coding|12/15|c.820-4dupA||||||;p3_1000G_AA=?|T|TT|unsure;p3_1000G_AC=4898;p3_1000G_AF=0.978035;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=17126;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197576307;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3262,234;ESP6500_AA_GTC=1522,218,8;ESP6500_CDS_SIZES=NM_144977.4:1281,NM_001195215.1:2328;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=57;ESP6500_EA_AC=7782,6;ESP6500_EA_GTC=3888,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144977.4:intron,NM_001195215.1:intron;ESP6500_GL=DENND1B;ESP6500_GRCh38_POSITION=1:197607177;ESP6500_GTC=5410,224,8;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_144977.4:c.820-4_820-3insA,NM_001195215.1:c.820-4_820-3insA;ESP6500_MAF=0.077,6.6934,2.1269;ESP6500_TAC=11044,240	GT:AD:DP:GQ:PL	1/1:0,21:21:63:761,63,0
chr1	197772821	rs2477067	C	A	508.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.26;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2477067;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|2/22|c.82+47G>T||||||,A|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|2/19|n.420+47G>T||||||,A|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001300858.1|protein_coding|2/15|c.-160+47G>T||||||,A|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_144977.4|protein_coding|2/15|c.82+47G>T||||||,A|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195216.1|protein_coding|2/2|c.82+47G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4994;p3_1000G_AF=0.997204;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18010;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197741951;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1381,3;ESP6500_AA_GTC=690,1,1;ESP6500_CDS_SIZES=NM_144977.4:1281,NM_001195216.1:231,NM_001195215.1:2328;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=122;ESP6500_EA_AC=3161,21;ESP6500_EA_GTC=1570,21,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144977.4:intron,NM_001195216.1:intron,NM_001195215.1:intron;ESP6500_GL=DENND1B;ESP6500_GRCh38_POSITION=1:197772821;ESP6500_GTC=2260,22,1;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_144977.4:c.82+47G>T,NM_001195216.1:c.82+47G>T,NM_001195215.1:c.82+47G>T;ESP6500_MAF=0.66,0.2168,0.5256;ESP6500_TAC=4542,24	GT:AD:DP:GQ:PL	1/1:0,18:18:57:537,57,0
chr1	197773041	rs2488396	C	T	78.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2488396;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|1/22|c.18-109G>A||||||,T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|1/19|n.356-109G>A||||||,T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001300858.1|protein_coding|1/15|c.-224-109G>A||||||,T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_144977.4|protein_coding|1/15|c.18-109G>A||||||,T|intron_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195216.1|protein_coding|1/2|c.18-109G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=19167;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.8032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197742171;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:106,9,0
chr1	197775249	rs79734618	C	T	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.124;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=2.29;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79734618;dbSNPBuildID=131;ANN=T|5_prime_UTR_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195215.1|protein_coding|1/23|c.-94G>A|||||94|,T|5_prime_UTR_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001300858.1|protein_coding|1/16|c.-335G>A|||||39612|,T|5_prime_UTR_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_144977.4|protein_coding|1/16|c.-94G>A|||||94|,T|5_prime_UTR_variant|MODIFIER|DENND1B|DENND1B|transcript|NM_001195216.1|protein_coding|1/3|c.-94G>A|||||94|,T|non_coding_transcript_exon_variant|MODIFIER|DENND1B|DENND1B|transcript|NR_125340.1|pseudogene|1/20|n.245G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=27;p3_1000G_AF=0.00539137;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=7331;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197744379;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:229,0,330
chr1	197902889	rs4539165	G	T	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.311;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-1.225;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4539165;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|C1orf53|C1orf53|transcript|NM_001024594.2|protein_coding|1/3|c.240G>T|p.Ala80Ala|338/683|240/438|80/145||;p3_1000G_AA=g|||;p3_1000G_AC=707;p3_1000G_AF=0.141174;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=9933;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.2753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197872019;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=226,3284;ESP6500_AA_GTC=16,194,1545;ESP6500_CDS_SIZES=NM_001024594.2:438;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=6;ESP6500_EA_AC=2009,5661;ESP6500_EA_GTC=283,1443,2109;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001024594.2:coding-synonymous;ESP6500_GL=C1orf53;ESP6500_GRCh38_POSITION=1:197902889;ESP6500_GTC=299,1637,3654;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001024594.2:c.240G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001024594.2:p.(A80);ESP6500_MAF=26.193,6.4387,19.9911;ESP6500_TAC=2235,8945	GT:AD:DP:GQ:PL	0/1:16,8:24:99:196,0,482
chr1	197921292	rs12122995	C	G	2554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=1.965;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12122995;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|LHX9|LHX9|transcript|NM_020204.2|protein_coding|2/4|c.378-12C>G||||||,G|intron_variant|MODIFIER|LHX9|LHX9|transcript|NM_001014434.1|protein_coding|3/5|c.351-12C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4657;p3_1000G_AF=0.929912;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=16009;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197890422;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3590,816;ESP6500_AA_AGE=323.2+/-298.0;ESP6500_AA_GTC=1464,662,77;ESP6500_CDS_SIZES=NM_020204.2:1194,NM_001014434.1:1167;ESP6500_CG=2.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=34;ESP6500_EA_AC=8353,247;ESP6500_EA_AGE=97.0+/-158.7;ESP6500_EA_GTC=4057,239,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020204.2:intron,NM_001014434.1:intron;ESP6500_GL=LHX9;ESP6500_GRCh38_POSITION=1:197921292;ESP6500_GTC=5521,901,81;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020204.2:c.378-12C>G,NM_001014434.1:c.351-12C>G;ESP6500_MAF=2.8721,18.5202,8.1732;ESP6500_TAC=11943,1063	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2583,213,0
chr1	197927598	rs12046958	T	C	1298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.16;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.122;SOR=0.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12046958;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|LHX9|LHX9|transcript|NM_020204.2|protein_coding|4/5|c.741T>C|p.Asn247Asn|1178/2515|741/1194|247/397||,C|synonymous_variant|LOW|LHX9|LHX9|transcript|NM_001014434.1|protein_coding|5/6|c.714T>C|p.Asn238Asn|741/2078|714/1167|238/388||;p3_1000G_AA=T|||;p3_1000G_AC=1342;p3_1000G_AF=0.267971;p3_1000G_AFR_AF=0.1959;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=18498;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.1859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197896728;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=819,3587;ESP6500_AA_AGE=326.7+/-299.7;ESP6500_AA_GTC=80,659,1464;ESP6500_CDS_SIZES=NM_020204.2:1194,NM_001014434.1:1167;ESP6500_CG=-3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=288;ESP6500_EA_AC=1625,6975;ESP6500_EA_AGE=301.4+/-305.4;ESP6500_EA_GTC=151,1323,2826;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020204.2:coding-synonymous,NM_001014434.1:coding-synonymous;ESP6500_GL=LHX9;ESP6500_GRCh38_POSITION=1:197927598;ESP6500_GTC=231,1982,4290;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020204.2:c.741T>C,NM_001014434.1:c.714T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020204.2:p.(N247),NM_001014434.1:p.(N238);ESP6500_MAF=18.8953,18.5883,18.7913;ESP6500_TAC=2444,10562	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1327,0,1132
chr1	198256528	rs6688481	T	C	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.08;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6688481;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|NEK7|NEK7|transcript|NM_133494.2|protein_coding|3/9|c.198+3348T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1077;p3_1000G_AF=0.215056;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=19975;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.16;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198225658;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=535,1215;ESP6500_AA_GTC=81,373,421;ESP6500_CDS_SIZES=NM_133494.2:909;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=519,3449;ESP6500_EA_GTC=35,449,1500;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133494.2:intron;ESP6500_GL=NEK7;ESP6500_GRCh38_POSITION=1:198256528;ESP6500_GTC=116,822,1921;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133494.2:c.198+3348T>C;ESP6500_MAF=13.0796,30.5714,18.433;ESP6500_TAC=1054,4664	GT:AD:DP:GQ:PL	0/1:10,6:16:99:147,0,264
chr1	198319383	rs1172091466	C	G	971.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.17;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=15.337;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.05;ReadPosRankSum=0.032;SOR=3.126;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|NEK7|NEK7|transcript|NM_133494.2|protein_coding|9/9|c.799-29C>G||||||	GT:AD:DP:GQ:PL	0/1:22,29:51:99:1000,0,599
chr1	198319579	rs6679100	A	G	1309.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.04;SOR=4.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6679100;dbSNPBuildID=116;ANN=G|3_prime_UTR_variant|MODIFIER|NEK7|NEK7|transcript|NM_133494.2|protein_coding|10/10|c.*57A>G|||||57|;p3_1000G_AA=A|||;p3_1000G_AC=3476;p3_1000G_AF=0.694089;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=21060;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.3777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198288709;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1338,105,0
chr1	198536700	rs3736930	C	T	518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.377;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-1.256;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736930;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|ATP6V1G3|ATP6V1G3|transcript|NM_133326.1|protein_coding|3/5|c.107G>A|p.Arg36Gln|213/678|107/180|36/59||,T|splice_region_variant&intron_variant|LOW|ATP6V1G3|ATP6V1G3|transcript|NM_001320218.1|protein_coding|2/4|c.83-4G>A||||||,T|intron_variant|MODIFIER|ATP6V1G3|ATP6V1G3|transcript|NM_133262.2|protein_coding|2/3|c.82+3869G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=137;p3_1000G_AF=0.0273562;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=17088;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198505830;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=28,4378;ESP6500_AA_AGE=35.2+/-66.4;ESP6500_AA_GTC=0,28,2175;ESP6500_CDS_SIZES=NM_133326.1:180,NM_133262.2:357;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=166;ESP6500_EA_AC=260,8336;ESP6500_EA_AGE=101.0+/-162.3;ESP6500_EA_GTC=5,250,4043;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133326.1:missense,NM_133262.2:intron;ESP6500_GL=ATP6V1G3;ESP6500_GRCh38_POSITION=1:198536700;ESP6500_GS=43,.;ESP6500_GTC=5,278,6218;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133326.1:c.107G>A,NM_133262.2:c.82+3869G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133326.1:p.(R36Q),.;ESP6500_MAF=3.0247,0.6355,2.215;ESP6500_PH=benign:0.002,.;ESP6500_TAC=288,12714	GT:AD:DP:GQ:PL	0/1:10,22:32:99:547,0,200
chr1	198702524	rs4915154;464444	A	G	1277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.898;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=3.644;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.822;SOR=0.421;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915154;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|PTPRC|PTPRC|transcript|NM_002838.4|protein_coding|6/33|c.577A>G|p.Thr193Ala|790/5429|577/3921|193/1306||,G|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_080921.3|protein_coding|3/29|c.101-774A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=282;p3_1000G_AF=0.0563099;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=19264;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198671653;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=25,4381;ESP6500_AA_AGE=31.7+/-61.6;ESP6500_AA_GTC=0,25,2178;ESP6500_CDS_SIZES=NM_080921.3:3438,NM_002838.4:3921;ESP6500_CG=-11.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=261;ESP6500_EA_AC=62,8538;ESP6500_EA_AGE=38.3+/-94.2;ESP6500_EA_GTC=2,58,4240;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080921.3:intron,NM_002838.4:missense;ESP6500_GL=PTPRC;ESP6500_GRCh38_POSITION=1:198702524;ESP6500_GS=.,58;ESP6500_GTC=2,83,6418;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080921.3:c.101-774A>G,NM_002838.4:c.577A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_002838.4:p.(T193A);ESP6500_MAF=0.7209,0.5674,0.6689;ESP6500_PH=.,benign:0.008;ESP6500_TAC=87,12919;CLINVAR_ALLELEID=447591;CLINVAR_CLNDISDB=MedGen:C1837028,OMIM:608971;CLINVAR_CLNDN=Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-positive,_NK_cell-positive;CLINVAR_CLNHGVS=NC_000001.11:g.198702524A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PTPRC:5788;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4915154	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1306,0,1652
chr1	198703170	rs16843742	T	C	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.84;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=-0.441;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16843742;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_002838.4|protein_coding|6/32|c.584-128T>C||||||,C|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_080921.3|protein_coding|3/29|c.101-128T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1014;p3_1000G_AF=0.202476;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=17830;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198672299;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:76:336,0,76
chr1	198729084	rs117668894	T	C	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.402;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.027;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117668894;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_002838.4|protein_coding|16/32|c.1830-53T>C||||||,C|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_080921.3|protein_coding|13/29|c.1347-53T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=23;p3_1000G_AF=0.00459265;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14497;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198698213;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,11:15:80:243,0,80
chr1	198734177	rs6683595	C	T	93.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6683595;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_002838.4|protein_coding|20/32|c.2143-19C>T||||||,T|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_080921.3|protein_coding|17/29|c.1660-19C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1396;p3_1000G_AF=0.278754;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=18339;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.1292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198703306;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1673,2729;ESP6500_AA_AGE=641.0+/-397.4;ESP6500_AA_GTC=314,1045,842;ESP6500_CDS_SIZES=NM_080921.3:3438,NM_002838.4:3921;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=60;ESP6500_EA_AC=1202,7392;ESP6500_EA_AGE=754.5+/-407.5;ESP6500_EA_GTC=80,1042,3175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080921.3:intron,NM_002838.4:intron;ESP6500_GL=PTPRC;ESP6500_GRCh38_POSITION=1:198734177;ESP6500_GTC=394,2087,4017;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080921.3:c.1660-19C>T,NM_002838.4:c.2143-19C>T;ESP6500_MAF=13.9865,38.0055,22.1222;ESP6500_TAC=2875,10121	GT:AD:DP:GQ:PL	1/1:0,4:4:12:121,12,0
chr1	198735165	rs7540378	C	T	254.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.48;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7540378;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|PTPRC|PTPRC|transcript|NM_002838.4|protein_coding|23/33|c.2316C>T|p.Gly772Gly|2529/5429|2316/3921|772/1306||,T|synonymous_variant|LOW|PTPRC|PTPRC|transcript|NM_080921.3|protein_coding|20/30|c.1833C>T|p.Gly611Gly|2046/4946|1833/3438|611/1145||;p3_1000G_AA=C|||;p3_1000G_AC=1133;p3_1000G_AF=0.226238;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=13598;p3_1000G_EAS_AF=0.2361;p3_1000G_EUR_AF=0.1163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198704294;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1083,3323;ESP6500_AA_AGE=385.8+/-325.9;ESP6500_AA_GTC=131,821,1251;ESP6500_CDS_SIZES=NM_080921.3:3438,NM_002838.4:3921;ESP6500_CG=0.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=81;ESP6500_EA_AC=1048,7550;ESP6500_EA_AGE=220.2+/-258.0;ESP6500_EA_GTC=59,930,3310;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080921.3:coding-synonymous,NM_002838.4:coding-synonymous;ESP6500_GL=PTPRC;ESP6500_GRCh38_POSITION=1:198735165;ESP6500_GTC=190,1751,4561;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080921.3:c.1833C>T,NM_002838.4:c.2316C>T;ESP6500_HGVS_PROTEIN_VAR=NM_080921.3:p.(G611),NM_002838.4:p.(G772);ESP6500_MAF=12.1889,24.5801,16.3873;ESP6500_TAC=2131,10873	GT:AD:DP:GQ:PL	1/1:0,10:10:30:283,30,0
chr1	198742041	rs370217220	CA	C	38.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=-1.834;SOR=1.414;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs370217220;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_002838.4|protein_coding|24/32|c.2561+27delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PTPRC|PTPRC|transcript|NM_080921.3|protein_coding|21/29|c.2078+27delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,4:6:36:76,0,36
chr1	198748089	rs546749152;rs71286550;516877	GTT	G	502.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=1.371;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=137,142;ANN=G|splice_region_variant&intron_variant|LOW|PTPRC|PTPRC|transcript|NM_002838.4|protein_coding|26/32|c.2848-5_2848-4delTT||||||INFO_REALIGN_3_PRIME,G|splice_region_variant&intron_variant|LOW|PTPRC|PTPRC|transcript|NM_080921.3|protein_coding|23/29|c.2365-5_2365-4delTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1400;p3_1000G_AF=0.279553;p3_1000G_AFR_AF=0.416;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=16070;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198717218;p3_1000G_GRCH37_REF=GTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=498191;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.198748090_198748091delTT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=PTPRC:5788;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=71286550	GT:AD:DP:GQ:PL	1/1:0,15:15:45:537,45,0
chr1	199904468	.	A	AGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG	52.52	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.16;QD=33.67;SOR=1.609;INS;HOM;VARTYPE=INS;ANN=AGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG|intergenic_region|MODIFIER|LINC01221-NR5A2|LINC01221-NR5A2|intergenic_region|LINC01221-NR5A2|||n.199904468_199904469insGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG||||||	GT:AD:DP:GQ:PL	1/1:0,1:1:7:89,7,0
chr1	200057781	rs2977424	G	A	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.126;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=1.28;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2977424;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_205860.2|protein_coding|5/7|c.1110+8963G>A||||||,A|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_003822.4|protein_coding|4/6|c.972+8963G>A||||||,A|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_001276464.1|protein_coding|4/6|c.894+8963G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1810;p3_1000G_AF=0.361422;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=19954;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.2684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200026909;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:65:65,0,69
chr1	200111335	rs3828110	C	T	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.847;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.236;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=-0.819;SOR=0.233;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828110;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_205860.2|protein_coding|6/7|c.1230+14C>T||||||,T|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_003822.4|protein_coding|5/6|c.1092+14C>T||||||,T|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_001276464.1|protein_coding|5/6|c.1014+14C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2257;p3_1000G_AF=0.450679;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=15742;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200080463;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,6:21:99:0|1:200111335_C_T:108,0,416
chr1	200120744	rs10494808	C	T	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.854;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.022;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10494808;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_205860.2|protein_coding|6/7|c.1231-64C>T||||||,T|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_003822.4|protein_coding|5/6|c.1093-64C>T||||||,T|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_001276464.1|protein_coding|5/6|c.1015-64C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1846;p3_1000G_AF=0.36861;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=21686;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.4215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200089872;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:95:164,0,95
chr1	200120992	rs3762398	G	A	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.4;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=4.228;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-0.922;SOR=1.961;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762398;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_205860.2|protein_coding|7/7|c.1378+37G>A||||||,A|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_003822.4|protein_coding|6/6|c.1240+37G>A||||||,A|intron_variant|MODIFIER|NR5A2|NR5A2|transcript|NM_001276464.1|protein_coding|6/6|c.1162+37G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1291;p3_1000G_AF=0.257788;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=20965;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.2664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200090120;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=848,3558;ESP6500_AA_AGE=334.7+/-303.5;ESP6500_AA_GTC=92,664,1447;ESP6500_CDS_SIZES=NM_205860.1:1626,NM_003822.3:1488;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=126;ESP6500_EA_AC=2418,6182;ESP6500_EA_AGE=400.4+/-346.8;ESP6500_EA_GTC=337,1744,2219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205860.1:intron,NM_003822.3:intron;ESP6500_GL=NR5A2;ESP6500_GRCh38_POSITION=1:200120992;ESP6500_GTC=429,2408,3666;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_205860.1:c.1378+37G>A,NM_003822.3:c.1240+37G>A;ESP6500_MAF=28.1163,19.2465,25.1115;ESP6500_TAC=3266,9740	GT:AD:DP:GQ:PL	0/1:22,12:34:99:324,0,613
chr1	200173936	rs752789503	CTTT	C	189.06	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.01;ReadPosRankSum=1.47;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|splice_region_variant&intron_variant|LOW|NR5A2|NR5A2|transcript|NM_205860.2|protein_coding|7/7|c.1379-10_1379-8delTTT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|NR5A2|NR5A2|transcript|NM_003822.4|protein_coding|6/6|c.1241-10_1241-8delTTT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|NR5A2|NR5A2|transcript|NM_001276464.1|protein_coding|6/6|c.1163-10_1163-8delTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,6:7:11:226,11,0
chr1	200174153	rs1060060	C	T	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.711;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=5.357;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.087;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1060060;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|NR5A2|NR5A2|transcript|NM_205860.2|protein_coding|8/8|c.1569C>T|p.Asn523Asn|1815/5084|1569/1626|523/541||,T|synonymous_variant|LOW|NR5A2|NR5A2|transcript|NM_003822.4|protein_coding|7/7|c.1431C>T|p.Asn477Asn|1677/4946|1431/1488|477/495||,T|synonymous_variant|LOW|NR5A2|NR5A2|transcript|NM_001276464.1|protein_coding|7/7|c.1353C>T|p.Asn451Asn|1508/4777|1353/1410|451/469||;p3_1000G_AA=C|||;p3_1000G_AC=1775;p3_1000G_AF=0.354433;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=17133;p3_1000G_EAS_AF=0.5179;p3_1000G_EUR_AF=0.2913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200143281;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1499,2907;ESP6500_AA_AGE=478.1+/-358.1;ESP6500_AA_GTC=267,965,971;ESP6500_CDS_SIZES=NM_205860.1:1626,NM_003822.3:1488;ESP6500_CG=-0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=56;ESP6500_EA_AC=2522,6078;ESP6500_EA_AGE=413.5+/-351.2;ESP6500_EA_GTC=386,1750,2164;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205860.1:coding-synonymous,NM_003822.3:coding-synonymous;ESP6500_GL=NR5A2;ESP6500_GRCh38_POSITION=1:200174153;ESP6500_GTC=653,2715,3135;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_205860.1:c.1569C>T,NM_003822.3:c.1431C>T;ESP6500_HGVS_PROTEIN_VAR=NM_205860.1:p.(N523),NM_003822.3:p.(N477);ESP6500_MAF=29.3256,34.0218,30.9165;ESP6500_TAC=4021,8985	GT:AD:DP:GQ:PL	0/1:23,16:39:99:383,0,597
chr1	200409349	rs757886747	C	A	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.44;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-1.548;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|synonymous_variant|LOW|ZNF281|ZNF281|transcript|NM_001281293.1|protein_coding|2/2|c.357G>T|p.Gly119Gly|488/4890|357/2688|119/895||,A|synonymous_variant|LOW|ZNF281|ZNF281|transcript|NM_001281294.1|protein_coding|3/3|c.249G>T|p.Gly83Gly|380/4782|249/2580|83/859||,A|synonymous_variant|LOW|ZNF281|ZNF281|transcript|NM_012482.4|protein_coding|2/2|c.357G>T|p.Gly119Gly|484/4886|357/2688|119/895||	GT:AD:DP:GQ:PL	0/1:18,13:31:99:388,0,477
chr1	200575522	rs35571944;rs56069431;rs570644719	TAC	T	34.71	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.35;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35571944;dbSNPBuildID=126,142,129;ANN=T|intron_variant|MODIFIER|KIF14|KIF14|transcript|NM_014875.2|protein_coding|22/29|c.3566+67_3566+68delGT||||||,T|intron_variant|MODIFIER|KIF14|KIF14|transcript|NM_001305792.1|protein_coding|20/27|c.2093+67_2093+68delGT||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:71,6,0
chr1	200598216	rs12042062	T	C	2056.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=1.341;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12042062;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|KIF14|KIF14|transcript|NM_014875.2|protein_coding|14/29|c.2549+21A>G||||||,C|intron_variant|MODIFIER|KIF14|KIF14|transcript|NM_001305792.1|protein_coding|12/27|c.1076+21A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=242;p3_1000G_AF=0.0483227;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=18113;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200567344;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=11,4395;ESP6500_AA_AGE=12.9+/-30.5;ESP6500_AA_GTC=0,11,2192;ESP6500_CDS_SIZES=NM_014875.2:4947;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=69;ESP6500_EA_AC=9,8591;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,9,4291;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014875.2:intron;ESP6500_GL=KIF14;ESP6500_GRCh38_POSITION=1:200598216;ESP6500_GTC=0,20,6483;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014875.2:c.2549+21A>G;ESP6500_MAF=0.1047,0.2497,0.1538;ESP6500_TAC=20,12986	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2085,194,0
chr1	200624877	rs2808257	C	T	1119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=1.552;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2808257;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|KIF14|KIF14|transcript|NM_014875.2|protein_coding||c.-6154G>A|||||4143|,T|intergenic_region|MODIFIER|KIF14-DDX59|KIF14-DDX59|intergenic_region|KIF14-DDX59|||n.200624877C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1880;p3_1000G_AF=0.375399;p3_1000G_AFR_AF=0.4002;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=18122;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.1521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200594005;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1579,2827;ESP6500_AA_AGE=487.1+/-360.8;ESP6500_AA_GTC=280,1019,904;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=74;ESP6500_EA_AC=1487,7113;ESP6500_EA_AGE=279.4+/-293.9;ESP6500_EA_GTC=118,1251,2931;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:200624877;ESP6500_GTC=398,2270,3835;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=17.2907,35.8375,23.5737;ESP6500_TAC=3066,9940	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1148,117,0
chr1	200625112	rs2809350	G	A	599.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2809350;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|KIF14|KIF14|transcript|NM_014875.2|protein_coding||c.-6389C>T|||||4378|,A|intergenic_region|MODIFIER|KIF14-DDX59|KIF14-DDX59|intergenic_region|KIF14-DDX59|||n.200625112G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4888;p3_1000G_AF=0.976038;p3_1000G_AFR_AF=0.9107;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19748;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200594240;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:628,60,0
chr1	200649110	rs6665604	T	C	937.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.05;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6665604;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|DDX59|DDX59|transcript|NM_001031725.5|protein_coding|6/8|c.1431A>G|p.Ser477Ser|1674/2320|1431/1860|477/619||,C|synonymous_variant|LOW|DDX59|DDX59|transcript|NM_001320181.1|protein_coding|6/8|c.1431A>G|p.Ser477Ser|1674/2289|1431/1704|477/567||,C|synonymous_variant|LOW|DDX59|DDX59|transcript|NM_001320182.1|protein_coding|3/5|c.1089A>G|p.Ser363Ser|1100/1746|1089/1518|363/505||;p3_1000G_AA=C|||;p3_1000G_AC=4795;p3_1000G_AF=0.957468;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=14254;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9543;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200618238;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4070,336;ESP6500_AA_AGE=176.9+/-206.0;ESP6500_AA_GTC=1878,314,11;ESP6500_CDS_SIZES=NM_001031725.4:1860;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=136;ESP6500_EA_AC=8280,320;ESP6500_EA_AGE=113.7+/-173.7;ESP6500_EA_GTC=3986,308,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001031725.4:coding-synonymous;ESP6500_GL=DDX59;ESP6500_GRCh38_POSITION=1:200649110;ESP6500_GTC=5864,622,17;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001031725.4:c.1431A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001031725.4:p.(S477);ESP6500_MAF=3.7209,7.626,5.0438;ESP6500_TAC=12350,656	GT:AD:DP:GQ:PL	1/1:0,36:36:99:966,108,0
chr1	200650350	rs2808230	C	A	78.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2808230;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001031725.5|protein_coding|5/7|c.1314+75G>T||||||,A|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001320181.1|protein_coding|5/7|c.1314+75G>T||||||,A|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001320182.1|protein_coding|2/4|c.973-1124G>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=4933;p3_1000G_AF=0.985024;p3_1000G_AFR_AF=0.9448;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=15154;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200619478;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:106,9,0
chr1	200650402	rs2809365	T	C	317.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.89;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2809365;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001031725.5|protein_coding|5/7|c.1314+23A>G||||||,C|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001320181.1|protein_coding|5/7|c.1314+23A>G||||||,C|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001320182.1|protein_coding|2/4|c.973-1176A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4886;p3_1000G_AF=0.975639;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=15121;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200619530;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4080,290;ESP6500_AA_GTC=1903,274,8;ESP6500_CDS_SIZES=NM_001031725.4:1860;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=8581,3;ESP6500_EA_GTC=4289,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001031725.4:intron;ESP6500_GL=DDX59;ESP6500_GRCh38_POSITION=1:200650402;ESP6500_GTC=6192,277,8;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001031725.4:c.1314+23A>G;ESP6500_MAF=0.0349,6.6362,2.2618;ESP6500_TAC=12661,293	GT:AD:DP:GQ:PL	1/1:0,11:11:33:346,33,0
chr1	200663832	rs57155598	T	C	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-1.05;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57155598;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001031725.5|protein_coding|3/7|c.972+87A>G||||||,C|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001320181.1|protein_coding|3/7|c.972+87A>G||||||,C|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001320182.1|protein_coding|2/4|c.972+87A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1094;p3_1000G_AF=0.21845;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=18604;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.0696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200632960;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:200663832_T_C:153,0,365
chr1	200663838	rs60572979	A	G	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=-1.451;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60572979;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001031725.5|protein_coding|3/7|c.972+81T>C||||||,G|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001320181.1|protein_coding|3/7|c.972+81T>C||||||,G|intron_variant|MODIFIER|DDX59|DDX59|transcript|NM_001320182.1|protein_coding|2/4|c.972+81T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1094;p3_1000G_AF=0.21845;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=18985;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.0696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200632966;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,5:10:99:0|1:200663832_T_C:188,0,362
chr1	200666422	rs3795634	T	C	1290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=1.955;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.18;ReadPosRankSum=-1.363;SOR=0.786;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795634;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|DDX59|DDX59|transcript|NM_001031725.5|protein_coding|2/8|c.319A>G|p.Ile107Val|562/2320|319/1860|107/619||,C|missense_variant|MODERATE|DDX59|DDX59|transcript|NM_001320181.1|protein_coding|2/8|c.319A>G|p.Ile107Val|562/2289|319/1704|107/567||,C|missense_variant|MODERATE|DDX59|DDX59|transcript|NM_001320182.1|protein_coding|1/5|c.319A>G|p.Ile107Val|330/1746|319/1518|107/505||,C|upstream_gene_variant|MODIFIER|LOC101929224|LOC101929224|transcript|NR_110787.1|pseudogene||n.-3085T>C|||||3085|;p3_1000G_AA=C|||;p3_1000G_AC=1094;p3_1000G_AF=0.21845;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=21100;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200635550;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=639,3767;ESP6500_AA_AGE=766.7+/-413.5;ESP6500_AA_GTC=47,545,1611;ESP6500_CDS_SIZES=NM_001031725.4:1860;ESP6500_CG=4.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=70;ESP6500_EA_AC=535,8065;ESP6500_EA_AGE=795.4+/-407.5;ESP6500_EA_GTC=11,513,3776;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001031725.4:missense;ESP6500_GL=DDX59;ESP6500_GRCh38_POSITION=1:200666422;ESP6500_GS=29;ESP6500_GTC=58,1058,5387;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001031725.4:c.319A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001031725.4:p.(I107V);ESP6500_MAF=6.2209,14.503,9.0266;ESP6500_PH=benign:0.0;ESP6500_TAC=1174,11832	GT:AD:DP:GQ:PGT:PID:PL	0/1:36,35:71:99:0|1:200666422_T_C:1319,0,1883
chr1	200666432	rs3795633	T	C	1161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.31;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=3.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=0.14;SOR=0.74;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795633;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|DDX59|DDX59|transcript|NM_001031725.5|protein_coding|2/8|c.309A>G|p.Pro103Pro|552/2320|309/1860|103/619||,C|synonymous_variant|LOW|DDX59|DDX59|transcript|NM_001320181.1|protein_coding|2/8|c.309A>G|p.Pro103Pro|552/2289|309/1704|103/567||,C|synonymous_variant|LOW|DDX59|DDX59|transcript|NM_001320182.1|protein_coding|1/5|c.309A>G|p.Pro103Pro|320/1746|309/1518|103/505||,C|upstream_gene_variant|MODIFIER|LOC101929224|LOC101929224|transcript|NR_110787.1|pseudogene||n.-3075T>C|||||3075|;p3_1000G_AA=C|||;p3_1000G_AC=1094;p3_1000G_AF=0.21845;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=20274;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200635560;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=639,3767;ESP6500_AA_AGE=766.3+/-413.4;ESP6500_AA_GTC=47,545,1611;ESP6500_CDS_SIZES=NM_001031725.4:1860;ESP6500_CG=-10.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=67;ESP6500_EA_AC=535,8065;ESP6500_EA_AGE=795.2+/-407.5;ESP6500_EA_GTC=11,513,3776;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001031725.4:coding-synonymous;ESP6500_GL=DDX59;ESP6500_GRCh38_POSITION=1:200666432;ESP6500_GTC=58,1058,5387;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001031725.4:c.309A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001031725.4:p.(P103);ESP6500_MAF=6.2209,14.503,9.0266;ESP6500_TAC=1174,11832	GT:AD:DP:GQ:PGT:PID:PL	0/1:36,31:67:99:0|1:200666422_T_C:1190,0,1907
chr1	200807513	rs7552353	C	T	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.772;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.658;SOR=1.262;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7552353;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|CAMSAP2|CAMSAP2|transcript|NM_001297707.1|protein_coding|3/18|c.537C>T|p.Asp179Asp|807/7388|537/4470|179/1489||,T|synonymous_variant|LOW|CAMSAP2|CAMSAP2|transcript|NM_001297708.1|protein_coding|3/17|c.537C>T|p.Asp179Asp|807/7307|537/4389|179/1462||,T|synonymous_variant|LOW|CAMSAP2|CAMSAP2|transcript|NM_203459.2|protein_coding|3/17|c.537C>T|p.Asp179Asp|807/7355|537/4437|179/1478||;p3_1000G_AA=C|||;p3_1000G_AC=1259;p3_1000G_AF=0.251398;p3_1000G_AFR_AF=0.2216;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=14960;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.0994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200776641;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=904,3502;ESP6500_AA_AGE=350.3+/-310.7;ESP6500_AA_GTC=99,706,1398;ESP6500_CDS_SIZES=NM_203459.1:4437;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=114;ESP6500_EA_AC=698,7902;ESP6500_EA_AGE=172.6+/-223.3;ESP6500_EA_GTC=27,644,3629;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203459.1:coding-synonymous;ESP6500_GL=CAMSAP2;ESP6500_GRCh38_POSITION=1:200807513;ESP6500_GTC=126,1350,5027;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_203459.1:c.537C>T;ESP6500_HGVS_PROTEIN_VAR=NM_203459.1:p.(D179);ESP6500_MAF=8.1163,20.5175,12.3174;ESP6500_TAC=1602,11404	GT:AD:DP:GQ:PL	0/1:24,18:42:99:452,0,594
chr1	200842185	rs149419826	A	AT	76.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.21;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=1.75;SOR=0.892;INS;HET;VARTYPE=INS;dbSNP138_ID=rs149419826;dbSNPBuildID=134;ANN=AT|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_001297707.1|protein_coding|8/17|c.1054+108dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_001297708.1|protein_coding|7/16|c.1021+108dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_203459.2|protein_coding|7/16|c.1021+108dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1139;p3_1000G_AF=0.227436;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=16588;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200811313;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,5:9:86:114,0,86
chr1	200847393	rs2172666	G	T	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.18;SOR=0.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2172666;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_001297707.1|protein_coding|10/17|c.1225+101G>T||||||,T|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_001297708.1|protein_coding|9/16|c.1144+101G>T||||||,T|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_203459.2|protein_coding|9/16|c.1192+101G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3650;p3_1000G_AF=0.728834;p3_1000G_AFR_AF=0.6853;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=15895;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200816521;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:128,0,141
chr1	200847530	rs2131834	T	C	537.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2131834;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_001297707.1|protein_coding|10/17|c.1226-110T>C||||||,C|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_001297708.1|protein_coding|9/16|c.1145-110T>C||||||,C|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_203459.2|protein_coding|9/16|c.1193-110T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17244;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200816658;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:566,48,0
chr1	200852408	rs10800743	C	T	48.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10800743;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_001297707.1|protein_coding|12/17|c.3499-133C>T||||||,T|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_001297708.1|protein_coding|11/16|c.3418-133C>T||||||,T|intron_variant|MODIFIER|CAMSAP2|CAMSAP2|transcript|NM_203459.2|protein_coding|11/16|c.3466-133C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3667;p3_1000G_AF=0.732228;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=17374;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.7545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200821536;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:76,6,0
chr1	200872982	rs968497	G	A	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-1.465;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs968497;dbSNPBuildID=86;ANN=A|5_prime_UTR_variant|MODIFIER|GPR25|GPR25|transcript|NM_005298.3|protein_coding|1/1|c.-56G>A|||||56|;p3_1000G_AA=G|||;p3_1000G_AC=553;p3_1000G_AF=0.110423;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=10702;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200842110;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:144,0,107
chr1	200874179	rs3831962;rs397840692	T	TCCCG	178.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.872;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.921;SOR=0.368;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34290042,rs3831962;dbSNPBuildID=126,138;ANN=TCCCG|downstream_gene_variant|MODIFIER|GPR25|GPR25|transcript|NM_005298.3|protein_coding||c.*56_*57insCCCG|||||2|,TCCCG|intergenic_region|MODIFIER|GPR25-C1orf106|GPR25-C1orf106|intergenic_region|GPR25-C1orf106|||n.200874179_200874180insCCCG||||||;p3_1000G_AC=1258;p3_1000G_AF=0.251198;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=15688;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200843307;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,6:15:99:216,0,527
chr1	200891875	rs2271019	A	G	326.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271019;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|C1orf106|C1orf106|transcript|NM_001142569.2|protein_coding||c.-6526A>G|||||2946|,G|intron_variant|MODIFIER|C1orf106|C1orf106|transcript|NM_018265.3|protein_coding|1/9|c.203+174A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2685;p3_1000G_AF=0.536142;p3_1000G_AFR_AF=0.5998;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=18384;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200861003;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:355,30,0
chr1	200901322	rs188556941	G	T	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.389;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs188556941;dbSNPBuildID=135;ANN=T|intron_variant|MODIFIER|C1orf106|C1orf106|transcript|NM_018265.3|protein_coding|5/9|c.817+163G>T||||||,T|intron_variant|MODIFIER|C1orf106|C1orf106|transcript|NM_001142569.2|protein_coding|5/9|c.520+163G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19280;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200870450;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:140,0,179
chr1	200911850	rs296520	C	T	969.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.16;QD=30.31;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs296520;dbSNPBuildID=79;ANN=T|missense_variant|MODERATE|C1orf106|C1orf106|transcript|NM_018265.3|protein_coding|9/10|c.1654C>T|p.Arg552Cys|1654/4141|1654/2034|552/677||,T|missense_variant|MODERATE|C1orf106|C1orf106|transcript|NM_001142569.2|protein_coding|9/10|c.1357C>T|p.Arg453Cys|1718/4205|1357/1737|453/578||;p3_1000G_AA=T|||;p3_1000G_AC=3966;p3_1000G_AF=0.791933;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=12017;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.7256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200880978;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2547,1503;ESP6500_AA_GTC=890,767,368;ESP6500_CDS_SIZES=NM_018265.3:2034,NM_001142569.2:1737;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=6;ESP6500_EA_AC=5587,2355;ESP6500_EA_GTC=2124,1339,508;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018265.3:missense,NM_001142569.2:missense;ESP6500_GL=C1orf106;ESP6500_GRCh38_POSITION=1:200911850;ESP6500_GS=180,180;ESP6500_GTC=3014,2106,876;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018265.3:c.1654C>T,NM_001142569.2:c.1357C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018265.3:p.(R552C),NM_001142569.2:p.(R453C);ESP6500_MAF=29.6525,37.1111,32.1714;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8134,3858	GT:AD:DP:GQ:PL	1/1:0,32:32:96:998,96,0
chr1	200913636	rs2275487;rs78470138	G	A	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.33;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.466;MLEAC=1;MLEAF=0.5;MQ=55.35;MQRankSum=-0.272;QD=15.28;ReadPosRankSum=0.203;SOR=1.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78470138;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|C1orf106|C1orf106|transcript|NM_018265.3|protein_coding|10/10|c.*7G>A|||||7|,A|3_prime_UTR_variant|MODIFIER|C1orf106|C1orf106|transcript|NM_001142569.2|protein_coding|10/10|c.*7G>A|||||7|;p3_1000G_AA=g|||;p3_1000G_AC=398;p3_1000G_AF=0.0794728;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=16183;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.0388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200882764;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA_AC=104,4302;ESP6500_AA_AGE=82.4+/-120.9;ESP6500_AA_GTC=0,104,2099;ESP6500_CDS_SIZES=NM_018265.3:2034,NM_001142569.2:1737;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=34;ESP6500_EA_AC=328,8264;ESP6500_EA_AGE=115.2+/-175.0;ESP6500_EA_GTC=6,316,3974;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018265.3:utr-3,NM_001142569.2:utr-3;ESP6500_GL=C1orf106;ESP6500_GRCh38_POSITION=1:200913636;ESP6500_GTC=6,420,6073;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018265.3:c.*7G>A,NM_001142569.2:c.*7G>A;ESP6500_MAF=3.8175,2.3604,3.3236;ESP6500_TAC=432,12566	GT:AD:DP:GQ:PL	0/1:17,25:42:99:670,0,419
chr1	200913666	rs2275486;rs138338663	G	A	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.232;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.45;MQRankSum=-1.112;QD=17.95;ReadPosRankSum=-0.291;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138338663;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|C1orf106|C1orf106|transcript|NM_018265.3|protein_coding|10/10|c.*37G>A|||||37|,A|3_prime_UTR_variant|MODIFIER|C1orf106|C1orf106|transcript|NM_001142569.2|protein_coding|10/10|c.*37G>A|||||37|;ESP6500_AA_AC=424,3982;ESP6500_AA_GTC=15,394,1794;ESP6500_CDS_SIZES=NM_018265.3:2034,NM_001142569.2:1737;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=19;ESP6500_EA_AC=319,8277;ESP6500_EA_GTC=3,313,3982;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018265.3:utr-3,NM_001142569.2:utr-3;ESP6500_GL=C1orf106;ESP6500_GRCh38_POSITION=1:200913666;ESP6500_GTC=18,707,5776;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018265.3:c.*37G>A,NM_001142569.2:c.*37G>A;ESP6500_MAF=3.711,9.6232,5.7145;ESP6500_TAC=743,12259	GT:AD:DP:GQ:PL	0/1:11,14:25:99:477,0,373
chr1	200974665	rs201905676;rs536920116;rs71991687	CAGGA	C	1564.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.24;SOR=2.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71991687,rs201905676;dbSNPBuildID=134,137,142;ANN=C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|34/34|c.4814+45_4814+48delTCCT||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|34/34|c.4814+45_4814+48delTCCT||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|33/33|c.4775+45_4775+48delTCCT||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|33/33|c.4775+45_4775+48delTCCT||||||;p3_1000G_AC=5002;p3_1000G_AF=0.998802;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17495;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200943793;p3_1000G_GRCH37_REF=CAGGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4241,15;ESP6500_AA_GTC=2113,15,0;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=79;ESP6500_EA_AC=8246,2;ESP6500_EA_GTC=4123,0,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200974665;ESP6500_GTC=6236,15,1;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.4775+45_4775+48del4,NM_001252103.1:c.4775+45_4775+48del4,NM_001252102.1:c.4814+45_4814+48del4,NM_001252100.1:c.4814+45_4814+48del4;ESP6500_MAF=0.0242,0.3524,0.136;ESP6500_TAC=12487,17	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1602,109,0
chr1	200975712	rs296563	T	G	614.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs296563;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|32/34|c.4444-43A>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|32/34|c.4444-43A>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|31/33|c.4405-43A>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|31/33|c.4405-43A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3865;p3_1000G_AF=0.771765;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=18111;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200944840;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3386,1018;ESP6500_AA_GTC=1291,804,107;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=16;ESP6500_EA_AC=5915,2683;ESP6500_EA_GTC=2046,1823,430;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200975712;ESP6500_GTC=3337,2627,537;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.4405-43A>C,NM_001252103.1:c.4405-43A>C,NM_001252102.1:c.4444-43A>C,NM_001252100.1:c.4444-43A>C;ESP6500_MAF=31.2049,23.1153,28.4649;ESP6500_TAC=9301,3701	GT:AD:DP:GQ:PL	1/1:0,16:16:48:643,48,0
chr1	200983208	rs12562818	C	G	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=1.31;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12562818;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|27/34|c.3804-114G>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|27/34|c.3804-114G>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|27/33|c.3803+1651G>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|27/33|c.3803+1651G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1324;p3_1000G_AF=0.264377;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=15981;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200952336;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:226,0,110
chr1	200985058	rs12141466	T	C	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.459;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12141466;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|26/34|c.3690-86A>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|26/34|c.3690-86A>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|26/33|c.3690-86A>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|26/33|c.3690-86A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1314;p3_1000G_AF=0.26238;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=17595;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200954186;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:210,0,330
chr1	200987160	rs2275485	A	G	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.064;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.584;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.094;SOR=0.344;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275485;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|25/35|c.3450T>C|p.Ala1150Ala|3767/9940|3450/4914|1150/1637||,G|synonymous_variant|LOW|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|25/35|c.3450T>C|p.Ala1150Ala|3767/9324|3450/4872|1150/1623||,G|synonymous_variant|LOW|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|25/34|c.3450T>C|p.Ala1150Ala|3767/9285|3450/4833|1150/1610||,G|synonymous_variant|LOW|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|25/34|c.3450T>C|p.Ala1150Ala|3767/9901|3450/4875|1150/1624||;p3_1000G_AA=G|||;p3_1000G_AC=1312;p3_1000G_AF=0.261981;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=16605;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.1541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200956288;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1867,2539;ESP6500_AA_AGE=631.2+/-395.6;ESP6500_AA_GTC=390,1087,726;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=99;ESP6500_EA_AC=1538,7062;ESP6500_EA_AGE=745.9+/-407.3;ESP6500_EA_GTC=131,1276,2893;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:coding-synonymous,NM_001252103.1:coding-synonymous,NM_001252102.1:coding-synonymous,NM_001252100.1:coding-synonymous;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200987160;ESP6500_GTC=521,2363,3619;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.3450T>C,NM_001252103.1:c.3450T>C,NM_001252102.1:c.3450T>C,NM_001252100.1:c.3450T>C;ESP6500_HGVS_PROTEIN_VAR=NM_017596.3:p.(A1150),NM_001252103.1:p.(A1150),NM_001252102.1:p.(A1150),NM_001252100.1:p.(A1150);ESP6500_MAF=17.8837,42.374,26.1802;ESP6500_TAC=3405,9601	GT:AD:DP:GQ:PL	0/1:16,14:30:99:373,0,473
chr1	200988563	rs2297912	G	C	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.084;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=8.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.58;ReadPosRankSum=-0.493;SOR=1.715;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297912;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|22/34|c.3299-19C>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|22/34|c.3299-19C>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|22/33|c.3299-19C>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|22/33|c.3299-19C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1803;p3_1000G_AF=0.360024;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=12977;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.1918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200957691;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2323,2025;ESP6500_AA_GTC=716,891,567;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=9;ESP6500_EA_AC=1992,6492;ESP6500_EA_GTC=404,1184,2654;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200988563;ESP6500_GTC=1120,2075,3221;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.3299-19C>G,NM_001252103.1:c.3299-19C>G,NM_001252102.1:c.3299-19C>G,NM_001252100.1:c.3299-19C>G;ESP6500_MAF=23.4795,46.5731,33.6269;ESP6500_TAC=4315,8517	GT:AD:DP:GQ:PL	0/1:2,8:10:55:244,0,55
chr1	200988983	rs12143520	A	C	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.366;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12143520;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|21/34|c.3133-52T>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|21/34|c.3133-52T>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|21/33|c.3133-52T>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|21/33|c.3133-52T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1322;p3_1000G_AF=0.263978;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=16554;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200958111;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1121,1533;ESP6500_AA_GTC=251,619,457;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=18;ESP6500_EA_AC=832,3786;ESP6500_EA_GTC=70,692,1547;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200988983;ESP6500_GTC=321,1311,2004;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.3133-52T>G,NM_001252103.1:c.3133-52T>G,NM_001252102.1:c.3133-52T>G,NM_001252100.1:c.3133-52T>G;ESP6500_MAF=18.0165,42.2381,26.8564;ESP6500_TAC=1953,5319	GT:AD:DP:GQ:PL	0/1:4,4:8:99:111,0,122
chr1	200989924	rs57758014	T	G	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.69;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=-0.789;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57758014;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|21/34|c.3132+18A>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|21/34|c.3132+18A>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|21/33|c.3132+18A>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|21/33|c.3132+18A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1321;p3_1000G_AF=0.263778;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=21782;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200959052;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1866,2538;ESP6500_AA_AGE=631.2+/-395.6;ESP6500_AA_GTC=390,1086,726;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=53;ESP6500_EA_AC=1534,7066;ESP6500_EA_AGE=745.6+/-407.3;ESP6500_EA_GTC=131,1272,2897;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200989924;ESP6500_GTC=521,2358,3623;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.3132+18A>C,NM_001252103.1:c.3132+18A>C,NM_001252102.1:c.3132+18A>C,NM_001252100.1:c.3132+18A>C;ESP6500_MAF=17.8372,42.3706,26.1458;ESP6500_TAC=3400,9604	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,15:40:99:0|1:200989915_C_A:396,0,656
chr1	200990174	rs2297911	G	A	661.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.095;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.072;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.591;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297911;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|20/35|c.2994C>T|p.Asp998Asp|3311/9940|2994/4914|998/1637||,A|synonymous_variant|LOW|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|20/35|c.2994C>T|p.Asp998Asp|3311/9324|2994/4872|998/1623||,A|synonymous_variant|LOW|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|20/34|c.2994C>T|p.Asp998Asp|3311/9285|2994/4833|998/1610||,A|synonymous_variant|LOW|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|20/34|c.2994C>T|p.Asp998Asp|3311/9901|2994/4875|998/1624||;p3_1000G_AA=G|||;p3_1000G_AC=1321;p3_1000G_AF=0.263778;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=20704;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.1541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200959302;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1864,2542;ESP6500_AA_AGE=537.6+/-374.8;ESP6500_AA_GTC=389,1086,728;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=1535,7065;ESP6500_EA_AGE=288.8+/-298.9;ESP6500_EA_GTC=131,1273,2896;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017596.3:coding-synonymous,NM_001252103.1:coding-synonymous,NM_001252102.1:coding-synonymous,NM_001252100.1:coding-synonymous;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200990174;ESP6500_GTC=520,2359,3624;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.2994C>T,NM_001252103.1:c.2994C>T,NM_001252102.1:c.2994C>T,NM_001252100.1:c.2994C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017596.3:p.(D998),NM_001252103.1:p.(D998),NM_001252102.1:p.(D998),NM_001252100.1:p.(D998);ESP6500_MAF=17.8488,42.3059,26.1341;ESP6500_TAC=3399,9607	GT:AD:DP:GQ:PL	0/1:26,25:51:99:690,0,734
chr1	200991758	rs12123633	C	T	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.738;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-1.394;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12123633;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|16/34|c.2386-33G>A||||||,T|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|16/34|c.2386-33G>A||||||,T|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|16/33|c.2386-33G>A||||||,T|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|16/33|c.2386-33G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1323;p3_1000G_AF=0.264177;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=19556;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200960886;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1860,2546;ESP6500_AA_AGE=525.1+/-371.5;ESP6500_AA_GTC=387,1086,730;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=1533,7067;ESP6500_EA_AGE=280.9+/-294.7;ESP6500_EA_GTC=132,1269,2899;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200991758;ESP6500_GTC=519,2355,3629;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.2386-33G>A,NM_001252103.1:c.2386-33G>A,NM_001252102.1:c.2386-33G>A,NM_001252100.1:c.2386-33G>A;ESP6500_MAF=17.8256,42.2152,26.088;ESP6500_TAC=3393,9613	GT:AD:DP:GQ:PL	0/1:7,11:18:99:288,0,208
chr1	200991770	rs12145860	A	T	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.102;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.547;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12145860;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|16/34|c.2386-45T>A||||||,T|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|16/34|c.2386-45T>A||||||,T|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|16/33|c.2386-45T>A||||||,T|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|16/33|c.2386-45T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1291;p3_1000G_AF=0.257788;p3_1000G_AFR_AF=0.4342;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=20009;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200960898;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1780,2626;ESP6500_AA_AGE=500.7+/-364.8;ESP6500_AA_GTC=350,1080,773;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=28;ESP6500_EA_AC=1532,7068;ESP6500_EA_AGE=268.9+/-288.1;ESP6500_EA_GTC=131,1270,2899;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200991770;ESP6500_GTC=481,2350,3672;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.2386-45T>A,NM_001252103.1:c.2386-45T>A,NM_001252102.1:c.2386-45T>A,NM_001252100.1:c.2386-45T>A;ESP6500_MAF=17.814,40.3995,25.4652;ESP6500_TAC=3312,9694	GT:AD:DP:GQ:PL	0/1:7,11:18:99:266,0,190
chr1	200991787	rs12142447	T	C	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.41;ReadPosRankSum=2.21;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12142447;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|16/34|c.2386-62A>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|16/34|c.2386-62A>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|16/33|c.2386-62A>G||||||,C|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|16/33|c.2386-62A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1321;p3_1000G_AF=0.263778;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=19945;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200960915;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=630,754;ESP6500_AA_GTC=140,350,202;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=26;ESP6500_EA_AC=591,2591;ESP6500_EA_GTC=44,503,1044;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200991787;ESP6500_GTC=184,853,1246;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.2386-62A>G,NM_001252103.1:c.2386-62A>G,NM_001252102.1:c.2386-62A>G,NM_001252100.1:c.2386-62A>G;ESP6500_MAF=18.5732,45.5202,26.7411;ESP6500_TAC=1221,3345	GT:AD:DP:GQ:PL	0/1:5,9:14:99:314,0,141
chr1	200996473	rs10920088	G	A	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.88;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.78;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10920088;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|14/34|c.2078-78C>T||||||,A|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|14/34|c.2078-78C>T||||||,A|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|14/33|c.2078-78C>T||||||,A|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|14/33|c.2078-78C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2952;p3_1000G_AF=0.589457;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=19368;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.4692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200965601;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:162,0,144
chr1	200998362	rs10920089	A	G	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=9.353;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-1.09;SOR=0.084;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10920089;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252100.1|protein_coding|14/34|c.2077+22T>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252102.1|protein_coding|14/34|c.2077+22T>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_001252103.1|protein_coding|14/33|c.2077+22T>C||||||,G|intron_variant|MODIFIER|KIF21B|KIF21B|transcript|NM_017596.3|protein_coding|14/33|c.2077+22T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2962;p3_1000G_AF=0.591454;p3_1000G_AFR_AF=0.8722;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=17128;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.4692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200967490;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3540,866;ESP6500_AA_GTC=1487,566,150;ESP6500_CDS_SIZES=NM_017596.3:4875,NM_001252103.1:4833,NM_001252102.1:4872,NM_001252100.1:4914;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=4105,4495;ESP6500_EA_GTC=1041,2023,1236;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017596.3:intron,NM_001252103.1:intron,NM_001252102.1:intron,NM_001252100.1:intron;ESP6500_GL=KIF21B;ESP6500_GRCh38_POSITION=1:200998362;ESP6500_GTC=2528,2589,1386;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017596.3:c.2077+22T>C,NM_001252103.1:c.2077+22T>C,NM_001252102.1:c.2077+22T>C,NM_001252100.1:c.2077+22T>C;ESP6500_MAF=47.7326,19.655,41.2194;ESP6500_TAC=7645,5361	GT:AD:DP:GQ:PL	0/1:20,12:32:99:335,0,630
chr1	201040769	rs6427875	T	C	1281.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6427875;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|41/43|c.5135-56A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4993;p3_1000G_AF=0.997005;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18280;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201009897;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1378,6;ESP6500_AA_GTC=686,6,0;ESP6500_CDS_SIZES=NM_000069.2:5622;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=11;ESP6500_EA_AC=3137,39;ESP6500_EA_GTC=1549,39,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000069.2:intron;ESP6500_GL=CACNA1S;ESP6500_GRCh38_POSITION=1:201040769;ESP6500_GTC=2235,45,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000069.2:c.5135-56A>G;ESP6500_MAF=1.228,0.4335,0.9868;ESP6500_TAC=4515,45	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1310,120,0
chr1	201050977	rs6702590;199680	A	G	1866.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=1.034;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6702590;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|33/43|c.4113+7T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4409;p3_1000G_AF=0.880391;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=20612;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.67;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201020105;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4068,338;ESP6500_AA_GTC=1876,316,11;ESP6500_CDS_SIZES=NM_000069.2:5622;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=133;ESP6500_EA_AC=5749,2851;ESP6500_EA_GTC=1943,1863,494;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000069.2:intron;ESP6500_GL=CACNA1S;ESP6500_GRCh38_POSITION=1:201050977;ESP6500_GTC=3819,2179,505;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000069.2:c.4113+7T>C;ESP6500_MAF=33.1512,7.6714,24.5195;ESP6500_TAC=9817,3189;CLINVAR_ALLELEID=196497;CLINVAR_CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.201050977A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3396;CLINVAR_GENEINFO=CACNA1S:779;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6702590	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1895,177,0
chr1	201062179	rs2297903	A	C	909.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297903;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|23/43|c.2907-89T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3067;p3_1000G_AF=0.61242;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=18047;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201031307;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:938,72,0
chr1	201073490	rs9333652	G	A	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.383;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.083;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.407;SOR=0.488;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9333652;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|15/43|c.2157+59C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2961;p3_1000G_AF=0.591254;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=18584;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201042618;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7873;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,26:51:99:536,0,648
chr1	201074717	rs373486562;rs66932448	ACT	A	163.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.39;ReadPosRankSum=0.712;SOR=1.609;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs373486562,rs66932448;dbSNPBuildID=131,138;ANN=A|intron_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|13/43|c.1949-99_1949-98delAG||||||;p3_1000G_AC=3798;p3_1000G_AF=0.758387;p3_1000G_AFR_AF=0.4909;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=21612;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.7604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201043845;p3_1000G_GRCH37_REF=ACT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,5:7:68:201,0,68
chr1	201075620	rs1998721;254804	A	G	667.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.473;SOR=0.659;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1998721;dbSNPBuildID=92;ANN=G|splice_region_variant&intron_variant|LOW|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|12/43|c.1828-5T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3804;p3_1000G_AF=0.759585;p3_1000G_AFR_AF=0.4955;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=18832;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.7604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201044748;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2465,1941;ESP6500_AA_AGE=553.3+/-378.7;ESP6500_AA_GTC=697,1071,435;ESP6500_CDS_SIZES=NM_000069.2:5622;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=133;ESP6500_EA_AC=6682,1918;ESP6500_EA_AGE=339.8+/-323.3;ESP6500_EA_GTC=2595,1492,213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000069.2:intron;ESP6500_GL=CACNA1S;ESP6500_GRCh38_POSITION=1:201075620;ESP6500_GTC=3292,2563,648;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000069.2:c.1828-5T>C;ESP6500_MAF=22.3023,44.0536,29.6709;ESP6500_TAC=9147,3859;CLINVAR_ALLELEID=249634;CLINVAR_CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.201075620A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3414;CLINVAR_GENEINFO=CACNA1S:779;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1998721	GT:AD:DP:GQ:PL	0/1:24,26:50:99:696,0,545
chr1	201077934	rs4915476;254801	G	A	987.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.122;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=5.432;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.17;SOR=0.938;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915476;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|11/44|c.1564C>T|p.Leu522Leu|1791/6168|1564/5622|522/1873||;p3_1000G_AA=G|||;p3_1000G_AC=956;p3_1000G_AF=0.190895;p3_1000G_AFR_AF=0.292;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=18414;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0.2425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201047062;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1172,3234;ESP6500_AA_AGE=410.9+/-335.5;ESP6500_AA_GTC=158,856,1189;ESP6500_CDS_SIZES=NM_000069.2:5622;ESP6500_CG=4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=66;ESP6500_EA_AC=1915,6685;ESP6500_EA_AGE=337.8+/-322.5;ESP6500_EA_GTC=202,1511,2587;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000069.2:coding-synonymous;ESP6500_GL=CACNA1S;ESP6500_GRCh38_POSITION=1:201077934;ESP6500_GTC=360,2367,3776;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000069.2:c.1564C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000069.2:p.(L522);ESP6500_MAF=22.2674,26.6001,23.7352;ESP6500_TAC=3087,9919;CLINVAR_AF_ESP=0.2374;CLINVAR_AF_EXAC=0.20722;CLINVAR_AF_TGP=0.1909;CLINVAR_ALLELEID=249637;CLINVAR_CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:CN169374;CLINVAR_CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.201077934G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3430;CLINVAR_GENEINFO=CACNA1S:779;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4915476	GT:AD:DP:GQ:PL	0/1:48,38:86:99:1016,0,1301
chr1	201077947	rs4915477;254800	A	G	988.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.93;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=2.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.212;SOR=0.94;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915477;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|11/44|c.1551T>C|p.Gly517Gly|1778/6168|1551/5622|517/1873||;p3_1000G_AA=G|||;p3_1000G_AC=2860;p3_1000G_AF=0.571086;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=18602;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.6571;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201047075;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3893,513;ESP6500_AA_AGE=235.2+/-247.8;ESP6500_AA_GTC=1726,441,36;ESP6500_CDS_SIZES=NM_000069.2:5622;ESP6500_CG=-1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=75;ESP6500_EA_AC=5680,2920;ESP6500_EA_AGE=454.4+/-363.5;ESP6500_EA_GTC=1881,1918,501;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000069.2:coding-synonymous;ESP6500_GL=CACNA1S;ESP6500_GRCh38_POSITION=1:201077947;ESP6500_GTC=3607,2359,537;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000069.2:c.1551T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000069.2:p.(G517);ESP6500_MAF=33.9535,11.6432,26.3955;ESP6500_TAC=9573,3433;CLINVAR_ALLELEID=249638;CLINVAR_CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681|MedGen:C2930984,OMIM:601887|MedGen:C3714580,OMIM:170400|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis|Malignant_hyperthermia_susceptibility_type_5|Hypokalemic_periodic_paralysis_1|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.201077947A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:451444|Illumina_Clinical_Services_Laboratory,Illumina:3423;CLINVAR_GENEINFO=CACNA1S:779;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4915477	GT:AD:DP:GQ:PL	0/1:51,39:90:99:1017,0,1205
chr1	201083071	rs3767511	T	C	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-2.109;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767511;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|10/43|c.1393+91A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=21128;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0.2425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201052199;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:162,0,277
chr1	201085069	rs41267505	G	T	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.547;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=2.22;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.169;SOR=0.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41267505;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|8/43|c.1151-38C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=644;p3_1000G_AF=0.128594;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=16618;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0.1799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201054197;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=639,3767;ESP6500_AA_AGE=266.8+/-267.5;ESP6500_AA_GTC=54,531,1618;ESP6500_CDS_SIZES=NM_000069.2:5622;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=29;ESP6500_EA_AC=1406,7194;ESP6500_EA_AGE=265.3+/-286.1;ESP6500_EA_GTC=116,1174,3010;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000069.2:intron;ESP6500_GL=CACNA1S;ESP6500_GRCh38_POSITION=1:201085069;ESP6500_GTC=170,1705,4628;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000069.2:c.1151-38C>A;ESP6500_MAF=16.3488,14.503,15.7235;ESP6500_TAC=2045,10961	GT:AD:DP:GQ:PL	0/1:36,25:61:99:557,0,975
chr1	201110107	rs1325310;17628	C	T	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.55;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.647;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.38;SOR=0.194;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376546085,rs1325310;dbSNPBuildID=88;ANN=T|downstream_gene_variant|MODIFIER|ASCL5|ASCL5|transcript|NM_001270601.1|protein_coding||c.*4645G>A|||||3846|,T|intron_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|2/43|c.258+57G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2022;p3_1000G_AF=0.403754;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=19280;p3_1000G_EAS_AF=0.6399;p3_1000G_EUR_AF=0.2664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201079235;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.4038;CLINVAR_ALLELEID=32667;CLINVAR_CLNDISDB=MedGen:C0268446,OMIM:188580,Orphanet:ORPHA79102,SNOMED_CT:30967002;CLINVAR_CLNDN=Thyrotoxic_periodic_paralysis;CLINVAR_CLNHGVS=NC_000001.11:g.201110107C>T;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=risk_factor;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:114208.0006;CLINVAR_GENEINFO=CACNA1S:779;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1325310	GT:AD:DP:GQ:PL	0/1:21,14:35:99:353,0,622
chr1	201110330	rs1325309	T	A	657.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.272;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.649;SOR=1.047;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1325309;dbSNPBuildID=88;ANN=A|downstream_gene_variant|MODIFIER|ASCL5|ASCL5|transcript|NM_001270601.1|protein_coding||c.*4422A>T|||||3623|,A|intron_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding|1/43|c.153-61A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2862;p3_1000G_AF=0.571486;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=22098;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201079458;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,25:41:99:686,0,342
chr1	201112570	rs4506487;368842	T	C	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.711;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4506487;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding||c.-231A>G|||||4|,C|downstream_gene_variant|MODIFIER|ASCL5|ASCL5|transcript|NM_001270601.1|protein_coding||c.*2182A>G|||||1383|,C|intergenic_region|MODIFIER|CACNA1S-ASCL5|CACNA1S-ASCL5|intergenic_region|CACNA1S-ASCL5|||n.201112570T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1844;p3_1000G_AF=0.368211;p3_1000G_AFR_AF=0.2874;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=11894;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201081698;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.3682;CLINVAR_ALLELEID=353071;CLINVAR_CLNDISDB=MedGen:C0024591,Orphanet:ORPHA423|MedGen:C0238358,Orphanet:ORPHA681;CLINVAR_CLNDN=Malignant_hyperthermia_susceptibility|Hypokalemic_periodic_paralysis;CLINVAR_CLNHGVS=NC_000001.11:g.201112570T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CACNA1S:779;CLINVAR_MC=SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4506487	GT:AD:DP:GQ:PL	0/1:7,5:12:99:141,0,180
chr1	201112649	rs2281846	C	G	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2281846;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|CACNA1S|CACNA1S|transcript|NM_000069.2|protein_coding||c.-310G>C|||||83|,G|downstream_gene_variant|MODIFIER|ASCL5|ASCL5|transcript|NM_001270601.1|protein_coding||c.*2103G>C|||||1304|,G|intergenic_region|MODIFIER|CACNA1S-ASCL5|CACNA1S-ASCL5|intergenic_region|CACNA1S-ASCL5|||n.201112649C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=2470;p3_1000G_AF=0.493211;p3_1000G_AFR_AF=0.6672;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=11671;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.2783;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201081777;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:64:73,0,64
chr1	201143853	rs8158	A	G	1461.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=0.741;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8158;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288571.1|protein_coding|5/6|c.441T>C|p.Tyr147Tyr|588/1666|441/627|147/208||,G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288565.1|protein_coding|4/5|c.366T>C|p.Tyr122Tyr|998/2076|366/552|122/183||,G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288566.1|protein_coding|5/6|c.366T>C|p.Tyr122Tyr|596/1674|366/552|122/183||,G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288567.1|protein_coding|5/6|c.366T>C|p.Tyr122Tyr|810/1888|366/552|122/183||,G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288568.1|protein_coding|5/6|c.366T>C|p.Tyr122Tyr|648/1726|366/552|122/183||,G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288569.1|protein_coding|5/6|c.366T>C|p.Tyr122Tyr|509/1587|366/552|122/183||,G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288570.1|protein_coding|5/6|c.375T>C|p.Tyr125Tyr|522/1600|375/561|125/186||,G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_016456.4|protein_coding|5/6|c.366T>C|p.Tyr122Tyr|513/1591|366/552|122/183||,G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288564.1|protein_coding|5/6|c.366T>C|p.Tyr122Tyr|495/1573|366/552|122/183||,G|non_coding_transcript_exon_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109920.1|pseudogene|6/7|n.740T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109921.1|pseudogene|4/5|n.967T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3471;p3_1000G_AF=0.693091;p3_1000G_AFR_AF=0.6362;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=21567;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.7644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201112981;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2910,1496;ESP6500_AA_AGE=477.9+/-358.1;ESP6500_AA_GTC=966,978,259;ESP6500_CDS_SIZES=NM_016456.3:552;ESP6500_CG=3.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=115;ESP6500_EA_AC=6611,1989;ESP6500_EA_AGE=350.2+/-327.8;ESP6500_EA_GTC=2532,1547,221;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016456.3:coding-synonymous;ESP6500_GL=TMEM9;ESP6500_GRCh38_POSITION=1:201143853;ESP6500_GTC=3498,2525,480;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016456.3:c.366T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016456.3:p.(Y122);ESP6500_MAF=23.1279,33.9537,26.7953;ESP6500_TAC=9521,3485	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1490,123,0
chr1	201143990	rs3738266	A	G	1168.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738266;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288571.1|protein_coding|4/5|c.343-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288565.1|protein_coding|3/4|c.268-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288566.1|protein_coding|4/5|c.268-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288567.1|protein_coding|4/5|c.268-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288568.1|protein_coding|4/5|c.268-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288569.1|protein_coding|4/5|c.268-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288570.1|protein_coding|4/5|c.277-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_016456.4|protein_coding|4/5|c.268-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109920.1|pseudogene|5/6|n.642-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109921.1|pseudogene|3/4|n.869-39T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288564.1|protein_coding|4/5|c.268-39T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4701;p3_1000G_AF=0.938698;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=20135;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9543;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201113118;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4131,275;ESP6500_AA_AGE=151.0+/-185.0;ESP6500_AA_GTC=1935,261,7;ESP6500_CDS_SIZES=NM_016456.3:552;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=8197,403;ESP6500_EA_AGE=127.3+/-185.7;ESP6500_EA_GTC=3908,381,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016456.3:intron;ESP6500_GL=TMEM9;ESP6500_GRCh38_POSITION=1:201143990;ESP6500_GTC=5843,642,18;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016456.3:c.268-39T>C;ESP6500_MAF=4.686,6.2415,5.213;ESP6500_TAC=12328,678	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1197,108,0
chr1	201146694	rs3752978	A	G	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.33;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=4.499;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.61;SOR=1.855;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752978;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288571.1|protein_coding|4/5|c.342+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288565.1|protein_coding|3/4|c.267+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288566.1|protein_coding|4/5|c.267+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288567.1|protein_coding|4/5|c.267+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288568.1|protein_coding|4/5|c.267+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288569.1|protein_coding|4/5|c.267+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288570.1|protein_coding|4/5|c.276+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_016456.4|protein_coding|4/5|c.267+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109920.1|pseudogene|4/6|n.414+46T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109921.1|pseudogene|3/4|n.868+77T>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288564.1|protein_coding|4/5|c.267+46T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1789;p3_1000G_AF=0.357228;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=21529;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201115822;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1820,2586;ESP6500_AA_AGE=529.7+/-372.7;ESP6500_AA_GTC=371,1078,754;ESP6500_CDS_SIZES=NM_016456.3:552;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=117;ESP6500_EA_AC=2780,5820;ESP6500_EA_AGE=438.9+/-359.0;ESP6500_EA_GTC=462,1856,1982;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016456.3:intron;ESP6500_GL=TMEM9;ESP6500_GRCh38_POSITION=1:201146694;ESP6500_GTC=833,2934,2736;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016456.3:c.267+46T>C;ESP6500_MAF=32.3256,41.3073,35.3683;ESP6500_TAC=4600,8406	GT:AD:DP:GQ:PL	0/1:17,13:30:99:398,0,542
chr1	201146890	rs3752979	C	G	1064.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=2.376;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3752979;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288571.1|protein_coding|3/5|c.234-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288565.1|protein_coding|2/4|c.159-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288566.1|protein_coding|3/5|c.159-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288567.1|protein_coding|3/5|c.159-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288568.1|protein_coding|3/5|c.159-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288569.1|protein_coding|3/5|c.159-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288570.1|protein_coding|3/5|c.168-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_016456.4|protein_coding|3/5|c.159-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109920.1|pseudogene|3/6|n.306-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109921.1|pseudogene|2/4|n.791-42G>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288564.1|protein_coding|3/5|c.159-42G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4701;p3_1000G_AF=0.938698;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=18282;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201116018;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4131,275;ESP6500_AA_AGE=151.4+/-185.3;ESP6500_AA_GTC=1935,261,7;ESP6500_CDS_SIZES=NM_016456.3:552;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=29;ESP6500_EA_AC=8196,402;ESP6500_EA_AGE=126.5+/-185.0;ESP6500_EA_GTC=3908,380,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016456.3:intron;ESP6500_GL=TMEM9;ESP6500_GRCh38_POSITION=1:201146890;ESP6500_GTC=5843,641,18;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_016456.3:c.159-42G>C;ESP6500_MAF=4.6755,6.2415,5.2061;ESP6500_TAC=12327,677	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1093,93,0
chr1	201151602	rs2068152	C	A	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-1.117;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2068152;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288571.1|protein_coding|3/5|c.233+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288565.1|protein_coding|2/4|c.158+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288566.1|protein_coding|3/5|c.158+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288567.1|protein_coding|3/5|c.158+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288568.1|protein_coding|3/5|c.158+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288569.1|protein_coding|3/5|c.158+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288570.1|protein_coding|3/5|c.167+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_016456.4|protein_coding|3/5|c.158+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109920.1|pseudogene|3/6|n.305+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109921.1|pseudogene|2/4|n.790+159G>T||||||,A|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288564.1|protein_coding|3/5|c.158+159G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1454;p3_1000G_AF=0.290335;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=21595;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.3837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201120730;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:272,0,330
chr1	201153819	rs1925361	T	G	704.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1925361;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|TMEM9|TMEM9|transcript|NM_001288571.1|protein_coding|2/6|c.105A>C|p.Thr35Thr|252/1666|105/627|35/208||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288565.1|protein_coding|1/4|c.66+39A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288566.1|protein_coding|2/5|c.66+39A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288567.1|protein_coding|2/5|c.66+39A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288568.1|protein_coding|2/5|c.66+39A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288569.1|protein_coding|2/5|c.66+39A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288570.1|protein_coding|2/5|c.75+30A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_016456.4|protein_coding|2/5|c.66+39A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109920.1|pseudogene|2/6|n.213+39A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NR_109921.1|pseudogene|1/4|n.698+39A>C||||||,G|intron_variant|MODIFIER|TMEM9|TMEM9|transcript|NM_001288564.1|protein_coding|2/5|c.66+39A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4705;p3_1000G_AF=0.939497;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=18476;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.9543;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201122947;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4137,269;ESP6500_AA_AGE=148.4+/-182.8;ESP6500_AA_GTC=1940,257,6;ESP6500_CDS_SIZES=NM_016456.3:552;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=40;ESP6500_EA_AC=8187,413;ESP6500_EA_AGE=125.3+/-183.9;ESP6500_EA_GTC=3899,389,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016456.3:intron;ESP6500_GL=TMEM9;ESP6500_GRCh38_POSITION=1:201153819;ESP6500_GTC=5839,646,18;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_016456.3:c.66+39A>C;ESP6500_MAF=4.8023,6.1053,5.2437;ESP6500_TAC=12324,682	GT:AD:DP:GQ:PL	1/1:0,23:23:69:733,69,0
chr1	201194063	rs1107128	G	T	338.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.08;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=1.17;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1107128;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|2/23|c.8-91G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3693;p3_1000G_AF=0.73742;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=20240;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201163191;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,14:18:99:367,0,113
chr1	201197255	rs4915221	G	A	626.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.3;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=1.975;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=0.625;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915221;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|5/24|c.305G>A|p.Arg102His|435/11810|305/11127|102/3708||;p3_1000G_AA=g|||;p3_1000G_AC=3669;p3_1000G_AF=0.732628;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=22538;p3_1000G_EAS_AF=0.8562;p3_1000G_EUR_AF=0.5547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201166383;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1065,319;ESP6500_AA_GTC=406,253,33;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=138;ESP6500_EA_AC=1812,1370;ESP6500_EA_GTC=519,774,298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201197255;ESP6500_GS=29;ESP6500_GTC=925,1027,331;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.305G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(R102H);ESP6500_MAF=43.0547,23.0491,36.9908;ESP6500_TAC=2877,1689	GT:AD:DP:GQ:PL	0/1:41,29:70:99:655,0,1121
chr1	201197307	rs11589317	T	C	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.74;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=5.807;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=1.82;SOR=1.524;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11589317;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|5/24|c.357T>C|p.Thr119Thr|487/11810|357/11127|119/3708||;p3_1000G_AA=C|||;p3_1000G_AC=4345;p3_1000G_AF=0.867612;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=21947;p3_1000G_EAS_AF=0.8552;p3_1000G_EUR_AF=0.9364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201166435;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1186,198;ESP6500_AA_GTC=504,178,10;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-10.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=161;ESP6500_EA_AC=2948,234;ESP6500_EA_GTC=1369,210,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:coding-synonymous;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201197307;ESP6500_GTC=1873,388,22;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.357T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(T119);ESP6500_MAF=7.3539,14.3064,9.4612;ESP6500_TAC=4134,432	GT:AD:DP:GQ:PL	0/1:35,19:54:99:438,0,903
chr1	201199371	rs1534057	G	A	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.194;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.117;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1534057;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|6/24|c.405G>A|p.Pro135Pro|535/11810|405/11127|135/3708||;p3_1000G_AA=G|||;p3_1000G_AC=994;p3_1000G_AF=0.198482;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=20083;p3_1000G_EAS_AF=0.256;p3_1000G_EUR_AF=0.1501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201168499;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=184,1200;ESP6500_AA_GTC=10,164,518;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-3.7;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=117;ESP6500_EA_AC=457,2725;ESP6500_EA_GTC=32,393,1166;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:coding-synonymous;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201199371;ESP6500_GTC=42,557,1684;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.405G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(P135);ESP6500_MAF=14.362,13.2948,14.0385;ESP6500_TAC=641,3925	GT:AD:DP:GQ:PL	0/1:13,20:33:99:446,0,339
chr1	201199461	rs1534056	T	C	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.06;ReadPosRankSum=0.494;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1534056;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|6/23|c.412+83T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1042;p3_1000G_AF=0.208067;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=19594;p3_1000G_EAS_AF=0.256;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201168589;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:257,0,153
chr1	201200426	rs2365299	T	G	505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.51;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.069;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2365299;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|8/23|c.633+15T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1040;p3_1000G_AF=0.207668;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=17635;p3_1000G_EAS_AF=0.255;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201169554;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=220,1164;ESP6500_AA_GTC=16,188,488;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=121;ESP6500_EA_AC=437,2745;ESP6500_EA_GTC=30,377,1184;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:intron;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201200426;ESP6500_GTC=46,565,1672;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.633+15T>G;ESP6500_MAF=13.7335,15.896,14.389;ESP6500_TAC=657,3909	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,17:39:99:0|1:201200426_T_G:534,0,614
chr1	201201644	rs10157730	A	G	1001.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10157730;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|8/23|c.634-75A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4655;p3_1000G_AF=0.929513;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=19951;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201170772;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1030,93,0
chr1	201201696	rs10158976	C	G	1527.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=0.813;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10158976;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|8/23|c.634-23C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4656;p3_1000G_AF=0.929712;p3_1000G_AFR_AF=0.8865;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=20271;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201170824;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1224,160;ESP6500_AA_GTC=536,152,4;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=64;ESP6500_EA_AC=2967,215;ESP6500_EA_GTC=1385,197,9;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:intron;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201201696;ESP6500_GTC=1921,349,13;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.634-23C>G;ESP6500_MAF=6.7568,11.5607,8.2129;ESP6500_TAC=4191,375	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1556,153,0
chr1	201201879	rs10800762	T	G	489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10800762;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|9/23|c.747+47T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3513;p3_1000G_AF=0.701478;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=17077;p3_1000G_EAS_AF=0.9435;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201171007;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=788,596;ESP6500_AA_GTC=224,340,128;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=2362,820;ESP6500_EA_GTC=877,608,106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:intron;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201201879;ESP6500_GTC=1101,948,234;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.747+47T>G;ESP6500_MAF=25.77,43.0636,31.0118;ESP6500_TAC=3150,1416	GT:AD:DP:GQ:PL	1/1:0,13:13:39:518,39,0
chr1	201206099	rs832156	C	A	661.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs832156;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.1206C>A|p.Asp402Glu|1336/11810|1206/11127|402/3708||;p3_1000G_AA=C|||;p3_1000G_AC=3821;p3_1000G_AF=0.762979;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=20659;p3_1000G_EAS_AF=0.6687;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201175227;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1158,226;ESP6500_AA_GTC=487,184,21;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=21;ESP6500_EA_AC=2269,913;ESP6500_EA_GTC=824,621,146;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201206099;ESP6500_GS=45;ESP6500_GTC=1311,805,167;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.1206C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(D402E);ESP6500_MAF=28.6926,16.3295,24.9452;ESP6500_TAC=3427,1139	GT:AD:DP:GQ:PL	1/1:0,21:21:63:690,63,0
chr1	201206587	rs1341631	G	T	700.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1341631;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.1694G>T|p.Arg565Leu|1824/11810|1694/11127|565/3708||;p3_1000G_AA=T|||;p3_1000G_AC=3826;p3_1000G_AF=0.763978;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=19674;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201175715;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1159,225;ESP6500_AA_GTC=487,185,20;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=67;ESP6500_EA_AC=2266,916;ESP6500_EA_GTC=821,624,146;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201206587;ESP6500_GS=102;ESP6500_GTC=1308,809,166;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.1694G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(R565L);ESP6500_MAF=28.7869,16.2572,24.989;ESP6500_TAC=3425,1141	GT:AD:DP:GQ:PL	1/1:0,23:23:69:729,69,0
chr1	201206890	rs10753895	A	G	1595.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.69;SOR=0.78;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10753895;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.1997A>G|p.Asp666Gly|2127/11810|1997/11127|666/3708||;p3_1000G_AA=A|||;p3_1000G_AC=3825;p3_1000G_AF=0.763778;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=18974;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201176018;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1159,225;ESP6500_AA_GTC=487,185,20;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=77;ESP6500_EA_AC=2270,912;ESP6500_EA_GTC=824,622,145;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201206890;ESP6500_GS=94;ESP6500_GTC=1311,807,165;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.1997A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(D666G);ESP6500_MAF=28.6612,16.2572,24.9014;ESP6500_TAC=3429,1137	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1624,138,0
chr1	201206980	rs12094334	G	A	1457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12094334;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.2087G>A|p.Gly696Asp|2217/11810|2087/11127|696/3708||;p3_1000G_AA=G|||;p3_1000G_AC=1550;p3_1000G_AF=0.309505;p3_1000G_AFR_AF=0.1997;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=19176;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.3489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201176108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=287,1097;ESP6500_AA_GTC=31,225,436;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=46;ESP6500_EA_AC=1072,2110;ESP6500_EA_GTC=180,712,699;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201206980;ESP6500_GS=94;ESP6500_GTC=211,937,1135;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.2087G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(G696D);ESP6500_MAF=33.6895,20.737,29.7635;ESP6500_TAC=1359,3207	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1486,138,0
chr1	201207840	rs12063867	A	G	1007.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12063867;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.2947A>G|p.Met983Val|3077/11810|2947/11127|983/3708||;p3_1000G_AA=A|||;p3_1000G_AC=1521;p3_1000G_AF=0.303714;p3_1000G_AFR_AF=0.1762;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17189;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201176968;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=272,1112;ESP6500_AA_GTC=29,214,449;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=1071,2111;ESP6500_EA_GTC=180,711,700;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201207840;ESP6500_GS=21;ESP6500_GTC=209,925,1149;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.2947A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(M983V);ESP6500_MAF=33.6581,19.6532,29.4131;ESP6500_TAC=1343,3223	GT:AD:DP:GQ:PL	1/1:0,27:27:81:1036,81,0
chr1	201208118	rs72751165	T	C	1518.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=29.21;ReadPosRankSum=-0.583;SOR=0.588;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72751165;dbSNPBuildID=130;ANN=C|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.3225T>C|p.Gly1075Gly|3355/11810|3225/11127|1075/3708||;p3_1000G_AA=t|||;p3_1000G_AC=1561;p3_1000G_AF=0.311701;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=17489;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201177246;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=299,1085;ESP6500_AA_GTC=33,233,426;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=46;ESP6500_EA_AC=1074,2108;ESP6500_EA_GTC=181,712,698;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:coding-synonymous;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201208118;ESP6500_GTC=214,945,1124;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.3225T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(G1075);ESP6500_MAF=33.7524,21.604,30.0701;ESP6500_TAC=1373,3193	GT:AD:DP:GQ:PL	1/1:1,51:52:99:1547,120,0
chr1	201208150	rs7551098	C	T	1197.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7551098;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.3257C>T|p.Ala1086Val|3387/11810|3257/11127|1086/3708||;p3_1000G_AA=T|||;p3_1000G_AC=1560;p3_1000G_AF=0.311502;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17934;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201177278;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=299,1085;ESP6500_AA_GTC=33,233,426;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=1078,2104;ESP6500_EA_GTC=182,714,695;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201208150;ESP6500_GS=64;ESP6500_GTC=215,947,1121;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.3257C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(A1086V);ESP6500_MAF=33.8781,21.604,30.1577;ESP6500_TAC=1377,3189	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1226,125,0
chr1	201208410	rs7551538	G	T	1322.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7551538;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.3517G>T|p.Ala1173Ser|3647/11810|3517/11127|1173/3708||;p3_1000G_AA=G|||;p3_1000G_AC=1523;p3_1000G_AF=0.304113;p3_1000G_AFR_AF=0.1778;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17585;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201177538;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=272,1112;ESP6500_AA_GTC=29,214,449;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=13;ESP6500_EA_AC=1060,2122;ESP6500_EA_GTC=180,700,711;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201208410;ESP6500_GS=99;ESP6500_GTC=209,914,1160;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.3517G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(A1173S);ESP6500_MAF=33.3124,19.6532,29.1721;ESP6500_TAC=1332,3234	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1351,129,0
chr1	201209342	rs12757706	G	A	1688.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12757706;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.4449G>A|p.Arg1483Arg|4579/11810|4449/11127|1483/3708||;p3_1000G_AA=G|||;p3_1000G_AC=1523;p3_1000G_AF=0.304113;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=16820;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201178470;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1717,156,0
chr1	201209796	rs6678538	A	G	1748.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.13;MQRankSum=-4.974;QD=16.34;ReadPosRankSum=-3.019;SOR=0.678;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6678538;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.4903A>G|p.Lys1635Glu|5033/11810|4903/11127|1635/3708||;p3_1000G_AA=-|||;p3_1000G_AC=2213;p3_1000G_AF=0.441893;p3_1000G_AFR_AF=0.444;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=21217;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201178924;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:57,50:107:99:0|1:201209796_A_G:1777,0,2040
chr1	201209798	rs6702960	G	A	1748.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.467;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.05;MQRankSum=-4.912;QD=16.5;ReadPosRankSum=-2.765;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6702960;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.4905G>A|p.Lys1635Lys|5035/11810|4905/11127|1635/3708||;p3_1000G_AA=-|||;p3_1000G_AC=2215;p3_1000G_AF=0.442292;p3_1000G_AFR_AF=0.444;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=20517;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201178926;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:56,50:106:99:0|1:201209796_A_G:1777,0,2040
chr1	201209837	rs12758143	A	G	607.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.13;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=1.912;MLEAC=1;MLEAF=0.5;MQ=49.82;MQRankSum=1.31;QD=5.63;ReadPosRankSum=-3.286;SOR=0.957;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12758143;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.4944A>G|p.Ile1648Met|5074/11810|4944/11127|1648/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:84,24:108:99:0|1:201209837_A_G:636,0,3463
chr1	201209849	rs368642483	C	T	408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.958;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=0.989;MLEAC=1;MLEAF=0.5;MQ=49.42;MQRankSum=0.286;QD=3.68;ReadPosRankSum=-4.083;SOR=0.932;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368642483;dbSNPBuildID=138;ANN=T|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.4956C>T|p.Ser1652Ser|5086/11810|4956/11127|1652/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:93,18:111:99:0|1:201209837_A_G:437,0,3859
chr1	201209856	rs12758581	G	A	222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.991;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=1.24;MLEAC=1;MLEAF=0.5;MQ=49.15;MQRankSum=-1.199;QD=2.03;ReadPosRankSum=-3.228;SOR=1.026;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12758581;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.4963G>A|p.Gly1655Ser|5093/11810|4963/11127|1655/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:99,11:110:99:0|1:201209837_A_G:251,0,4102
chr1	201210956	rs61396495	G	T	1980.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-3.26;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.86;MQRankSum=-0.534;QD=22.01;ReadPosRankSum=6.36;SOR=0.768;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61396495;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6063G>T|p.Gly2021Gly|6193/11810|6063/11127|2021/3708||	GT:AD:DP:GQ:PL	1/1:19,71:90:99:2009,165,0
chr1	201211012	rs58792551	C	T	1768.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.481;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=52.44;MQRankSum=0.869;QD=26.01;ReadPosRankSum=3.23;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58792551;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6119C>T|p.Ala2040Val|6249/11810|6119/11127|2040/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,44:68:99:0|1:201211012_C_T:1797,0,834
chr1	201211017	rs12022767	G	A	1739.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.558;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=3.366;MLEAC=1;MLEAF=0.5;MQ=52.28;MQRankSum=0.561;QD=25.21;ReadPosRankSum=1.34;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12022767;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6124G>A|p.Glu2042Lys|6254/11810|6124/11127|2042/3708||;p3_1000G_AA=G|||;p3_1000G_AC=2089;p3_1000G_AF=0.417133;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19401;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.3976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201180145;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,44:69:99:0|1:201211012_C_T:1768,0,960
chr1	201211020	rs145517342	A	G	1736.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.939;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=6.677;MLEAC=1;MLEAF=0.5;MQ=52.28;MQRankSum=0.346;QD=25.17;ReadPosRankSum=0.904;SOR=1.242;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145517342;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6127A>G|p.Arg2043Gly|6257/11810|6127/11127|2043/3708||;p3_1000G_AA=G|||;p3_1000G_AC=2100;p3_1000G_AF=0.419329;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=18452;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201180148;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,43:69:99:0|1:201211012_C_T:1765,0,1002
chr1	201211025	rs12029808	A	G	1599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=6.741;MLEAC=1;MLEAF=0.5;MQ=52.2;MQRankSum=-0.091;QD=23.88;ReadPosRankSum=0.359;SOR=1.327;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12029808;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6132A>G|p.Ile2044Met|6262/11810|6132/11127|2044/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,39:67:99:0|1:201211012_C_T:1628,0,1178
chr1	201211034	rs12029809	A	C	1158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.49;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=8.612;MLEAC=1;MLEAF=0.5;MQ=51.82;MQRankSum=-1.451;QD=17.3;ReadPosRankSum=0.27;SOR=1.571;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12029809;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6141A>C|p.Gly2047Gly|6271/11810|6141/11127|2047/3708||;p3_1000G_AA=G|||;p3_1000G_AC=1541;p3_1000G_AF=0.307708;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=21242;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201180162;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:36,31:67:99:0|1:201211012_C_T:1187,0,1502
chr1	201211044	rs12022770	G	A	1011.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.911;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=8.829;MLEAC=1;MLEAF=0.5;MQ=52.56;MQRankSum=-2.109;QD=14.88;ReadPosRankSum=-1.055;SOR=1.666;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12022770;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6151G>A|p.Gly2051Ser|6281/11810|6151/11127|2051/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:42,26:68:99:0|1:201211012_C_T:1040,0,1805
chr1	201211065	rs59199921	A	G	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.58;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=14.929;MLEAC=1;MLEAF=0.5;MQ=54.94;MQRankSum=-5.094;QD=4.47;ReadPosRankSum=-1.205;SOR=2.774;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59199921;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6172A>G|p.Ser2058Gly|6302/11810|6172/11127|2058/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:61,13:74:99:0|1:201211012_C_T:359,0,2540
chr1	201211072	rs12026461	T	G	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.19;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=15.189;MLEAC=1;MLEAF=0.5;MQ=55.21;MQRankSum=-5.31;QD=4.01;ReadPosRankSum=-2.68;SOR=2.83;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12026461;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6179T>G|p.Val2060Gly|6309/11810|6179/11127|2060/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:65,13:78:99:0|1:201211012_C_T:341,0,2785
chr1	201211094	rs28465285	G	A	37.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.562;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=56.48;MQRankSum=-3.988;QD=0.46;ReadPosRankSum=-2.385;SOR=1.149;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28465285;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6201G>A|p.Glu2067Glu|6331/11810|6201/11127|2067/3708||	GT:AD:DP:GQ:PGT:PID:PL	0/1:77,6:83:66:0|1:201211012_C_T:66,0,2969
chr1	201211373	rs71635536	T	C	2799.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=3.57;MLEAC=2;MLEAF=1;MQ=58.15;MQRankSum=7.37;QD=26.41;ReadPosRankSum=-1.523;SOR=0.231;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71635536;dbSNPBuildID=130;ANN=C|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.6480T>C|p.Phe2160Phe|6610/11810|6480/11127|2160/3708||	GT:AD:DP:GQ:PGT:PID:PL	1/1:7,99:106:35:1|1:201211357_A_G:2828,35,0
chr1	201212089	rs12070918	A	G	2881.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.48;SOR=0.754;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12070918;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.7196A>G|p.Asp2399Gly|7326/11810|7196/11127|2399/3708||;p3_1000G_AA=g|||;p3_1000G_AC=1626;p3_1000G_AF=0.324681;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=19262;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201181217;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA_AC=362,1022;ESP6500_AA_GTC=47,268,377;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=1074,2108;ESP6500_EA_GTC=181,712,698;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201212089;ESP6500_GS=94;ESP6500_GTC=228,980,1075;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.7196A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(D2399G);ESP6500_MAF=33.7524,26.1561,31.4498;ESP6500_TAC=1436,3130	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,66:66:99:1|1:201212089_A_G:2910,202,0
chr1	201212095	rs12070919	A	G	2720.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12070919;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.7202A>G|p.Asn2401Ser|7332/11810|7202/11127|2401/3708||;p3_1000G_AA=g|||;p3_1000G_AC=4998;p3_1000G_AF=0.998003;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19564;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201181223;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA_AC=1365,19;ESP6500_AA_GTC=673,19,0;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=31;ESP6500_EA_AC=3177,5;ESP6500_EA_GTC=1586,5,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201212095;ESP6500_GS=46;ESP6500_GTC=2259,24,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.7202A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(N2401S);ESP6500_MAF=0.1571,1.3728,0.5256;ESP6500_TAC=4542,24	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,61:61:99:1|1:201212089_A_G:2749,187,0
chr1	201212792	rs12060924	G	T	1315.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12060924;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/24|c.7899G>T|p.Gly2633Gly|8029/11810|7899/11127|2633/3708||;p3_1000G_AA=g|||;p3_1000G_AC=1537;p3_1000G_AF=0.306909;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18307;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201181920;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA_AC=272,1112;ESP6500_AA_GTC=28,216,448;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=29;ESP6500_EA_AC=1062,2120;ESP6500_EA_GTC=180,702,709;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:coding-synonymous;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201212792;ESP6500_GTC=208,918,1157;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.7899G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(G2633);ESP6500_MAF=33.3752,19.6532,29.2159;ESP6500_TAC=1334,3232	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1344,126,0
chr1	201213651	rs2282413	A	G	663.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2282413;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|12/23|c.8728+30A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1537;p3_1000G_AF=0.306909;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=17078;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201182779;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=941,3465;ESP6500_AA_AGE=357.6+/-314.0;ESP6500_AA_GTC=97,747,1359;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=2873,5727;ESP6500_EA_AGE=446.3+/-361.2;ESP6500_EA_GTC=495,1883,1922;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:intron;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201213651;ESP6500_GTC=592,2630,3281;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.8728+30A>G;ESP6500_MAF=33.407,21.3572,29.3249;ESP6500_TAC=3814,9192	GT:AD:DP:GQ:PL	1/1:0,20:20:60:692,60,0
chr1	201214235	rs2282415	C	T	1033.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2282415;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|13/24|c.8787C>T|p.Ala2929Ala|8917/11810|8787/11127|2929/3708||;p3_1000G_AA=T|||;p3_1000G_AC=1628;p3_1000G_AF=0.32508;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=15865;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.3479;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201183363;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1188,3218;ESP6500_AA_AGE=690.3+/-405.2;ESP6500_AA_GTC=151,886,1166;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=2867,5731;ESP6500_EA_AGE=652.2+/-400.9;ESP6500_EA_GTC=492,1883,1924;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:coding-synonymous;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201214235;ESP6500_GTC=643,2769,3090;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.8787C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(A2929);ESP6500_MAF=33.345,26.9632,31.1827;ESP6500_TAC=4055,8949	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1062,102,0
chr1	201214274	rs1568810	T	C	1047.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1568810;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|13/24|c.8826T>C|p.Pro2942Pro|8956/11810|8826/11127|2942/3708||;p3_1000G_AA=C|||;p3_1000G_AC=1581;p3_1000G_AF=0.315695;p3_1000G_AFR_AF=0.1891;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=16461;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.3509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201183402;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=966,3440;ESP6500_AA_AGE=727.6+/-409.9;ESP6500_AA_GTC=100,766,1337;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-4.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=59;ESP6500_EA_AC=2869,5731;ESP6500_EA_AGE=666.2+/-402.3;ESP6500_EA_GTC=494,1881,1925;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:coding-synonymous;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201214274;ESP6500_GTC=594,2647,3262;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.8826T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(P2942);ESP6500_MAF=33.3605,21.9246,29.4864;ESP6500_TAC=3835,9171	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1076,105,0
chr1	201215147	rs2275673	C	T	879.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275673;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|14/24|c.8988C>T|p.Thr2996Thr|9118/11810|8988/11127|2996/3708||;p3_1000G_AA=T|||;p3_1000G_AC=1652;p3_1000G_AF=0.329872;p3_1000G_AFR_AF=0.2383;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=19691;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.3509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201184275;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1176,3230;ESP6500_AA_AGE=710.0+/-407.8;ESP6500_AA_GTC=148,880,1175;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=2885,5715;ESP6500_EA_AGE=670.8+/-402.8;ESP6500_EA_GTC=495,1895,1910;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:coding-synonymous;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201215147;ESP6500_GTC=643,2775,3085;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.8988C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(T2996);ESP6500_MAF=33.5465,26.6909,31.2241;ESP6500_TAC=4061,8945	GT:AD:DP:GQ:PL	1/1:0,30:30:90:908,90,0
chr1	201218636	rs10920144	T	C	831.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10920144;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|18/24|c.9876T>C|p.Ala3292Ala|10006/11810|9876/11127|3292/3708||;p3_1000G_AA=C|||;p3_1000G_AC=4656;p3_1000G_AF=0.929712;p3_1000G_AFR_AF=0.9592;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=12560;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201187764;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4185,221;ESP6500_AA_AGE=133.3+/-169.7;ESP6500_AA_GTC=1988,209,6;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=7537,1063;ESP6500_EA_AGE=221.5+/-258.9;ESP6500_EA_GTC=3299,939,62;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:coding-synonymous;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201218636;ESP6500_GTC=5287,1148,68;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.9876T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(A3292);ESP6500_MAF=12.3605,5.0159,9.8724;ESP6500_TAC=11722,1284	GT:AD:DP:GQ:PL	1/1:0,28:28:84:860,84,0
chr1	201218700	rs3738268	T	C	695.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738268;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|18/23|c.9898+42T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4655;p3_1000G_AF=0.929513;p3_1000G_AFR_AF=0.9592;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=14269;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.8946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201187828;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4178,226;ESP6500_AA_GTC=1984,210,8;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=22;ESP6500_EA_AC=7524,1070;ESP6500_EA_GTC=3295,934,68;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001164586.1:intron;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201218700;ESP6500_GTC=5279,1144,76;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.9898+42T>C;ESP6500_MAF=12.4505,5.1317,9.9708;ESP6500_TAC=11702,1296	GT:AD:DP:GQ:PL	1/1:0,24:24:72:724,72,0
chr1	201225991	rs3738270	C	T	2626.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738270;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|22/24|c.10654C>T|p.His3552Tyr|10784/11810|10654/11127|3552/3708||;p3_1000G_AA=C|||;p3_1000G_AC=2843;p3_1000G_AF=0.567692;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=17777;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201195119;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6391;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1280,3126;ESP6500_AA_AGE=433.7+/-343.7;ESP6500_AA_GTC=181,918,1104;ESP6500_CDS_SIZES=NM_001164586.1:11127;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=5752,2848;ESP6500_EA_AGE=672.2+/-402.9;ESP6500_EA_GTC=1914,1924,462;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001164586.1:missense;ESP6500_GL=IGFN1;ESP6500_GRCh38_POSITION=1:201225991;ESP6500_GS=83;ESP6500_GTC=2095,2842,1566;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001164586.1:c.10654C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001164586.1:p.(H3552Y);ESP6500_MAF=33.1163,29.0513,45.9326;ESP6500_PH=benign:0.076;ESP6500_TAC=7032,5974	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2655,249,0
chr1	201228203	rs3753971	G	A	793.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3753971;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|IGFN1|IGFN1|transcript|NM_001164586.1|protein_coding|23/23|c.11114-183G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3552;p3_1000G_AF=0.709265;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=18910;p3_1000G_EAS_AF=0.6657;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201197331;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:822,75,0
chr1	201313039	rs1772860	C	G	98.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1772860;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|2/14|c.307-127C>G||||||,G|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|2/13|c.307-127C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2526;p3_1000G_AF=0.504393;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=17887;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.6392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201282167;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:126,9,0
chr1	201316781	rs1534051	A	G	333.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1534051;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|4/14|c.846+84A>G||||||,G|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|4/13|c.846+84A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4064;p3_1000G_AF=0.811502;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=18518;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201285909;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:362,27,0
chr1	201317486	rs11336457;rs796394618;rs565162755	GA	G	163.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.4;SOR=2.584;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11336457;dbSNPBuildID=130,146;ANN=G|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|4/14|c.847-76delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|4/13|c.847-76delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3969;p3_1000G_AF=0.792532;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=22362;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201286614;p3_1000G_GRCH37_REF=GA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:201,21,0
chr1	201317500	rs1772823	C	G	314.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1772823;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|4/14|c.847-72C>G||||||,G|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|4/13|c.847-72C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3974;p3_1000G_AF=0.79353;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=19632;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201286628;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:343,27,0
chr1	201318879	rs1794868	G	A	614.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1794868;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|6/14|c.1232+84G>A||||||,A|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|6/13|c.1232+84G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3975;p3_1000G_AF=0.79373;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=18431;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201288007;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:643,57,0
chr1	201319770	rs1722759	A	C	1013.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=1.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1722759;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|6/14|c.1233-46A>C||||||,C|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|6/13|c.1233-497A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4955;p3_1000G_AF=0.989417;p3_1000G_AFR_AF=0.9622;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16882;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201288898;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4253,153;ESP6500_AA_AGE=104.3+/-142.8;ESP6500_AA_GTC=2053,147,3;ESP6500_CDS_SIZES=NM_001005337.2:2181,NM_000299.3:2244;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=36;ESP6500_EA_AC=8591,9;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=4291,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005337.2:intron,NM_000299.3:intron;ESP6500_GL=PKP1;ESP6500_GRCh38_POSITION=1:201319770;ESP6500_GTC=6344,156,3;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001005337.2:c.1233-497A>C,NM_000299.3:c.1233-46A>C;ESP6500_MAF=0.1047,3.4725,1.2456;ESP6500_TAC=12844,162	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1042,87,0
chr1	201321938	rs2071960	C	T	2519.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2071960;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|8/14|c.1411-40C>T||||||,T|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|7/13|c.1348-40C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3148;p3_1000G_AF=0.628594;p3_1000G_AFR_AF=0.3759;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=18572;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.7008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201291066;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1935,2471;ESP6500_AA_AGE=549.1+/-377.7;ESP6500_AA_GTC=438,1059,706;ESP6500_CDS_SIZES=NM_001005337.2:2181,NM_000299.3:2244;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=58;ESP6500_EA_AC=5932,2668;ESP6500_EA_AGE=682.7+/-403.8;ESP6500_EA_GTC=2046,1840,414;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005337.2:intron,NM_000299.3:intron;ESP6500_GL=PKP1;ESP6500_GRCh38_POSITION=1:201321938;ESP6500_GTC=2484,2899,1120;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001005337.2:c.1348-40C>T,NM_000299.3:c.1411-40C>T;ESP6500_MAF=31.0233,43.9174,39.5125;ESP6500_TAC=7867,5139	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2548,234,0
chr1	201322982	rs1779288	T	C	652.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1779288;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|9/14|c.1567-31T>C||||||,C|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|8/13|c.1504-31T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4955;p3_1000G_AF=0.989417;p3_1000G_AFR_AF=0.9622;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=15559;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201292110;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4258,148;ESP6500_AA_AGE=102.1+/-140.7;ESP6500_AA_GTC=2058,142,3;ESP6500_CDS_SIZES=NM_001005337.2:2181,NM_000299.3:2244;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=63;ESP6500_EA_AC=8591,9;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=4291,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005337.2:intron,NM_000299.3:intron;ESP6500_GL=PKP1;ESP6500_GRCh38_POSITION=1:201322982;ESP6500_GTC=6349,151,3;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005337.2:c.1504-31T>C,NM_000299.3:c.1567-31T>C;ESP6500_MAF=0.1047,3.3591,1.2071;ESP6500_TAC=12849,157	GT:AD:DP:GQ:PL	1/1:0,22:22:66:681,66,0
chr1	201324384	rs36076398;rs398049993;rs398074571	TG	T	659.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.721;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs36076398;dbSNPBuildID=126,138,138;ANN=T|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|10/14|c.1744-41delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|9/13|c.1681-41delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GGG|GG|deletion;p3_1000G_AC=2648;p3_1000G_AF=0.528754;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=20270;p3_1000G_EAS_AF=0.7361;p3_1000G_EUR_AF=0.6392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201293512;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=INDEL;ESP6500_AA_AC=888,3376;ESP6500_AA_GTC=103,682,1347;ESP6500_CDS_SIZES=NM_001005337.2:2181,NM_000299.3:2244;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=32;ESP6500_EA_AC=5217,3037;ESP6500_EA_GTC=1653,1911,563;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005337.2:intron,NM_000299.3:intron;ESP6500_GL=PKP1;ESP6500_GRCh38_POSITION=1:201324384;ESP6500_GTC=1756,2593,1910;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001005337.2:c.1681-43del1,NM_000299.3:c.1744-43del1;ESP6500_MAF=36.7943,20.8255,48.7698;ESP6500_TAC=6105,6413	GT:AD:DP:GQ:PL	1/1:0,20:20:60:697,60,0
chr1	201324842	rs1620046	C	T	917.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=3.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1620046;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|11/14|c.1898-99C>T||||||,T|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|10/13|c.1835-99C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4730;p3_1000G_AF=0.944489;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=19567;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201293970;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:946,75,0
chr1	201324857	rs854505	G	A	921.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs854505;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_000299.3|protein_coding|11/14|c.1898-84G>A||||||,A|intron_variant|MODIFIER|PKP1|PKP1|transcript|NM_001005337.2|protein_coding|10/13|c.1835-84G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3439;p3_1000G_AF=0.686701;p3_1000G_AFR_AF=0.4584;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=19388;p3_1000G_EAS_AF=0.746;p3_1000G_EUR_AF=0.7386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201293985;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:950,84,0
chr1	201359696	rs2275863;256846	G	A	699.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.553;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.145;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-1.612;SOR=1.017;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275863;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|15/16|c.811-33C>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|14/15|c.802-33C>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|14/15|c.781-33C>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|13/14|c.772-33C>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|12/13|c.763-33C>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|13/14|c.682-33C>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|14/15|c.781-33C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1388;p3_1000G_AF=0.277157;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=19367;p3_1000G_EAS_AF=0.2847;p3_1000G_EUR_AF=0.0944;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201328824;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2044,2362;ESP6500_AA_GTC=484,1076,643;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=877,7719;ESP6500_EA_GTC=46,785,3467;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201359696;ESP6500_GTC=530,1861,4110;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.763-33C>T,NM_001001431.1:c.772-33C>T,NM_001001430.1:c.781-33C>T,NM_000364.2:c.802-33C>T;ESP6500_MAF=10.2024,46.3913,22.4658;ESP6500_TAC=2921,10081;CLINVAR_AF_ESP=0.2247;CLINVAR_AF_EXAC=0.20840;CLINVAR_AF_TGP=0.2772;CLINVAR_ALLELEID=249664;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.201359696G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TNNT2:7139;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2275863	GT:AD:DP:GQ:PL	0/1:21,28:49:99:728,0,485
chr1	201359785	rs45509695	G	C	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.056;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.55;ReadPosRankSum=-1.38;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45509695;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|15/16|c.811-122C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|14/15|c.802-122C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|14/15|c.781-122C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|13/14|c.772-122C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|12/13|c.763-122C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|13/14|c.682-122C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|14/15|c.781-122C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1392;p3_1000G_AF=0.277955;p3_1000G_AFR_AF=0.5461;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=16443;p3_1000G_EAS_AF=0.2857;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201328913;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,17:25:99:467,0,249
chr1	201361238	rs2275862;188689	G	C	339.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.062;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275862;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|15/16|c.810+41C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|14/15|c.801+41C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|14/15|c.780+41C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|13/14|c.771+41C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|12/13|c.762+41C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|13/14|c.681+41C>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|14/15|c.780+41C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=290;p3_1000G_AF=0.0579073;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=18939;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201330366;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=136,4270;ESP6500_AA_AGE=96.7+/-135.4;ESP6500_AA_GTC=3,130,2070;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=175;ESP6500_EA_AC=7,8593;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=0,7,4293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201361238;ESP6500_GTC=3,137,6363;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.762+41C>G,NM_001001431.1:c.771+41C>G,NM_001001430.1:c.780+41C>G,NM_000364.2:c.801+41C>G;ESP6500_MAF=0.0814,3.0867,1.0995;ESP6500_TAC=143,12863;CLINVAR_AF_ESP=0.0110;CLINVAR_AF_EXAC=0.02234;CLINVAR_AF_TGP=0.0579;CLINVAR_ALLELEID=186298;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.201361238G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TNNT2:7139;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2275862	GT:AD:DP:GQ:PL	0/1:12,12:24:99:368,0,336
chr1	201361455	rs2275861	A	G	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275861;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|14/16|c.720-86T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|13/15|c.711-86T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|13/15|c.690-86T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|12/14|c.681-86T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|11/13|c.672-86T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|12/14|c.591-86T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|13/15|c.690-86T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=856;p3_1000G_AF=0.170927;p3_1000G_AFR_AF=0.2557;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=14833;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201330583;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:56:56,0,185
chr1	201362207	rs11807637	A	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=-0.431;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11807637;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|12/16|c.601-92T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|12/15|c.601-185T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|11/15|c.571-92T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|11/14|c.571-185T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|10/13|c.557-180T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|11/14|c.481-185T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|11/15|c.571-92T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=829;p3_1000G_AF=0.165535;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=16200;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201331335;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=338,1046;ESP6500_AA_GTC=45,248,399;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=77;ESP6500_EA_AC=324,2858;ESP6500_EA_GTC=16,292,1283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201362207;ESP6500_GTC=61,540,1682;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.561+179T>C,NM_001001431.1:c.571-185T>C,NM_001001430.1:c.579+179T>C,NM_000364.2:c.601-185T>C;ESP6500_MAF=10.1823,24.422,14.4985;ESP6500_TAC=662,3904	GT:AD:DP:GQ:PL	0/1:3,6:9:60:192,0,60
chr1	201362251	rs11806184	T	C	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.998;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=-0.699;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11806184;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|12/16|c.601-136A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|12/15|c.601-229A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|11/15|c.571-136A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|11/14|c.571-229A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|10/13|c.557-224A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|11/14|c.481-229A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|11/15|c.571-136A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=828;p3_1000G_AF=0.165335;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=16090;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201331379;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:108,0,171
chr1	201362426	rs1104859;256845	T	G	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-1.272;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1104859;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|12/16|c.601-311A>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|12/15|c.601-404A>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|11/15|c.571-311A>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|11/14|c.571-404A>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|10/13|c.557-399A>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|11/14|c.481-404A>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|11/15|c.571-311A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3717;p3_1000G_AF=0.742212;p3_1000G_AFR_AF=0.7995;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=18841;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.7445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201331554;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8446;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3363,1043;ESP6500_AA_AGE=379.2+/-323.2;ESP6500_AA_GTC=1274,815,114;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=42;ESP6500_EA_AC=6185,2415;ESP6500_EA_AGE=398.8+/-346.2;ESP6500_EA_GTC=2225,1735,340;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201362426;ESP6500_GTC=3499,2550,454;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.556-35A>C,NM_001001431.1:c.571-404A>C,NM_001001430.1:c.571-32A>C,NM_000364.2:c.601-404A>C;ESP6500_MAF=28.0814,23.6723,26.5877;ESP6500_TAC=9548,3458;CLINVAR_ALLELEID=249665;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.201362426T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TNNT2:7139;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1104859	GT:AD:DP:GQ:PL	0/1:3,11:14:42:354,0,42
chr1	201362536	rs2365652	C	A	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.05;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.765;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2365652;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|12/16|c.601-421G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|12/15|c.601-514G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|11/15|c.571-421G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|11/14|c.571-514G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|10/13|c.557-509G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|11/14|c.481-514G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|11/15|c.571-421G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2602;p3_1000G_AF=0.519569;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=19009;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201331664;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:155,0,108
chr1	201364241	rs45527945	C	G	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.698;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.41;ReadPosRankSum=0.433;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45527945;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|11/16|c.489+57G>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|11/15|c.489+57G>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|10/15|c.459+57G>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|10/14|c.459+57G>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|9/13|c.444+57G>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|10/14|c.369+57G>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|10/15|c.459+57G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=249;p3_1000G_AF=0.0497204;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=15848;p3_1000G_EAS_AF=0.2163;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201333369;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,11:14:78:314,0,78
chr1	201365254	rs3729547;43632	G	A	577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.882;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.33;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3729547;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|10/17|c.348C>T|p.Ile116Ile|440/1191|348/897|116/298||,A|synonymous_variant|LOW|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|10/16|c.348C>T|p.Ile116Ile|440/1182|348/888|116/295||,A|synonymous_variant|LOW|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|9/16|c.318C>T|p.Ile106Ile|410/1161|318/867|106/288||,A|synonymous_variant|LOW|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|9/15|c.318C>T|p.Ile106Ile|410/1152|318/858|106/285||,A|synonymous_variant|LOW|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|8/14|c.303C>T|p.Ile101Ile|395/1143|303/849|101/282||,A|synonymous_variant|LOW|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|9/16|c.318C>T|p.Ile106Ile|543/1294|318/867|106/288||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|9/14|c.291+356C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3481;p3_1000G_AF=0.695088;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=20398;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.7416;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201334382;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2702,1704;ESP6500_AA_AGE=651.8+/-399.3;ESP6500_AA_GTC=827,1048,328;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=183;ESP6500_EA_AC=6178,2422;ESP6500_EA_AGE=698.3+/-405.0;ESP6500_EA_GTC=2224,1730,346;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:coding-synonymous,NM_001001431.1:coding-synonymous,NM_001001430.1:coding-synonymous,NM_000364.2:coding-synonymous;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201365254;ESP6500_GTC=3051,2778,674;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.303C>T,NM_001001431.1:c.318C>T,NM_001001430.1:c.318C>T,NM_000364.2:c.348C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001001432.1:p.(I101),NM_001001431.1:p.(I106),NM_001001430.1:p.(I106),NM_000364.2:p.(I116);ESP6500_MAF=28.1628,38.6745,31.7238;ESP6500_TAC=8880,4126;CLINVAR_ALLELEID=52801;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.201365254G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:833775;CLINVAR_GENEINFO=TNNT2:7139;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3729547	GT:AD:DP:GQ:PL	0/1:23,25:48:99:606,0,633
chr1	201366771	rs1573230	C	T	578.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.94;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1573230;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|8/16|c.233+67G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|8/15|c.233+67G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|7/15|c.203+67G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|7/14|c.203+67G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|6/13|c.188+67G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|8/14|c.230+67G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|7/15|c.203+67G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4915;p3_1000G_AF=0.98143;p3_1000G_AFR_AF=0.9312;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20170;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201335899;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1278,106;ESP6500_AA_GTC=590,98,4;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=50;ESP6500_EA_AC=3179,3;ESP6500_EA_GTC=1588,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201366771;ESP6500_GTC=2178,101,4;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.188+67G>A,NM_001001431.1:c.203+67G>A,NM_001001430.1:c.203+67G>A,NM_000364.2:c.233+67G>A;ESP6500_MAF=0.0943,7.659,2.3872;ESP6500_TAC=4457,109	GT:AD:DP:GQ:PL	1/1:0,20:20:60:607,60,0
chr1	201367856	rs3729843;256843	C	T	728.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.507;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0.977;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.832;SOR=0.955;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3729843;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|6/16|c.164-50G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|6/15|c.164-50G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|5/15|c.134-50G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|5/14|c.134-50G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|4/13|c.119-50G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|6/14|c.164-53G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|5/15|c.134-50G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1430;p3_1000G_AF=0.285543;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=20411;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.4722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201336984;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=410,3996;ESP6500_AA_AGE=181.9+/-209.8;ESP6500_AA_GTC=24,362,1817;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=130;ESP6500_EA_AC=3841,4759;ESP6500_EA_AGE=521.4+/-379.9;ESP6500_EA_GTC=864,2113,1323;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201367856;ESP6500_GTC=888,2475,3140;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.119-50G>A,NM_001001431.1:c.134-50G>A,NM_001001430.1:c.134-50G>A,NM_000364.2:c.164-50G>A;ESP6500_MAF=44.6628,9.3055,32.6849;ESP6500_TAC=4251,8755;CLINVAR_AF_ESP=0.3269;CLINVAR_AF_EXAC=0.41283;CLINVAR_AF_TGP=0.2855;CLINVAR_ALLELEID=249666;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.201367856C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TNNT2:7139;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3729843	GT:AD:DP:GQ:PL	0/1:37,29:66:99:757,0,1157
chr1	201368042	rs3729842	A	G	938.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.988;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.37;ReadPosRankSum=-0.742;SOR=0.446;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3729842;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|6/16|c.163+120T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|6/15|c.163+120T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|5/15|c.133+120T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|5/14|c.133+120T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|4/13|c.118+120T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|6/14|c.163+120T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|5/15|c.133+120T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4318;p3_1000G_AF=0.86222;p3_1000G_AFR_AF=0.8676;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=18930;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201337170;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,28:29:51:967,51,0
chr1	201369425	rs10800776	T	C	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.849;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=0.371;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10800776;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|5/16|c.97+391A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|5/15|c.97+391A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|4/15|c.68-1198A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|4/14|c.68-1198A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|2/13|c.43-83A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|5/14|c.97+391A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|4/15|c.68-1198A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3679;p3_1000G_AF=0.734625;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=18573;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.7435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201338553;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1022,362;ESP6500_AA_GTC=376,270,46;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=71;ESP6500_EA_AC=2297,885;ESP6500_EA_GTC=831,635,125;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201369425;ESP6500_GTC=1207,905,171;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.53-1198A>G,NM_001001431.1:c.68-1198A>G,NM_001001430.1:c.68-1198A>G,NM_000364.2:c.97+391A>G;ESP6500_MAF=27.8127,26.1561,27.3106;ESP6500_TAC=3319,1247	GT:AD:DP:GQ:PL	0/1:20,12:32:99:272,0,511
chr1	201369458	rs10920183	A	G	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.05;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10920183;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|5/16|c.97+358T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|5/15|c.97+358T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|4/15|c.68-1231T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|4/14|c.68-1231T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|2/13|c.43-116T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|5/14|c.97+358T>C||||||,G|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|4/15|c.68-1231T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2600;p3_1000G_AF=0.519169;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=18582;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201338586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,8:23:99:235,0,491
chr1	201369768	rs10920184	T	C	576.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=8.94;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=0.197;SOR=1.606;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10920184;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|5/16|c.97+48A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|5/15|c.97+48A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|4/15|c.68-1541A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|4/14|c.68-1541A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|2/13|c.43-426A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|5/14|c.97+48A>G||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|4/15|c.68-1541A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2654;p3_1000G_AF=0.529952;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=18402;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.6511;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201338896;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1518,2888;ESP6500_AA_AGE=674.2+/-402.9;ESP6500_AA_GTC=273,972,958;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=113;ESP6500_EA_AC=5341,3259;ESP6500_EA_AGE=490.9+/-373.0;ESP6500_EA_GTC=1656,2029,615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201369768;ESP6500_GTC=1929,3001,1573;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.53-1541A>G,NM_001001431.1:c.68-1541A>G,NM_001001430.1:c.68-1541A>G,NM_000364.2:c.97+48A>G;ESP6500_MAF=37.8953,34.453,47.2628;ESP6500_TAC=6859,6147	GT:AD:DP:GQ:PL	0/1:11,20:31:99:605,0,236
chr1	201369915	rs12049476	C	A	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.31;SOR=1.931;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12049476;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|4/16|c.68-70G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|4/15|c.68-70G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|4/15|c.68-1688G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|4/14|c.68-1688G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|2/13|c.43-573G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|4/14|c.68-70G>T||||||,A|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|4/15|c.68-1688G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=248;p3_1000G_AF=0.0495208;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=16877;p3_1000G_EAS_AF=0.2153;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201339043;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/0:0,5:5:99:673,489,474
chr1	201369915	rs12049476	C	T	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.31;SOR=1.931;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12049476;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|4/16|c.68-70G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|4/15|c.68-70G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|4/15|c.68-1688G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|4/14|c.68-1688G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|2/13|c.43-573G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|4/14|c.68-70G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|4/15|c.68-1688G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2685;p3_1000G_AF=0.536142;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=16877;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.6581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201339043;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=472,912;ESP6500_AA_GTC=83,306,303;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=38;ESP6500_EA_AC=2015,1167;ESP6500_EA_GTC=642,731,218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201369915;ESP6500_GTC=725,1037,521;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.53-1688G>A,NM_001001431.1:c.68-1688G>A,NM_001001430.1:c.68-1688G>A,NM_000364.2:c.68-70G>A;ESP6500_MAF=36.675,34.104,45.5322;ESP6500_TAC=2487,2079	GT:AD:DP:GQ:PL	0/1:0,17:17:99:673,184,133
chr1	201372047	rs45533739;43652	CAGAAG	C	487.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.965;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=6.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.59;SOR=0.444;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs45533739,rs4019985;dbSNPBuildID=127;ANN=C|splice_region_variant&intron_variant|LOW|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|3/16|c.53-11_53-7delCTTCT||||||,C|splice_region_variant&intron_variant|LOW|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|3/15|c.53-11_53-7delCTTCT||||||,C|splice_region_variant&intron_variant|LOW|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|3/15|c.53-11_53-7delCTTCT||||||,C|splice_region_variant&intron_variant|LOW|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|3/14|c.53-11_53-7delCTTCT||||||,C|splice_region_variant&intron_variant|LOW|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|3/14|c.53-11_53-7delCTTCT||||||,C|splice_region_variant&intron_variant|LOW|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|3/15|c.53-11_53-7delCTTCT||||||,C|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|2/13|c.42+1161_42+1165delCTTCT||||||;p3_1000G_AC=2606;p3_1000G_AF=0.520367;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=20900;p3_1000G_EAS_AF=0.4663;p3_1000G_EUR_AF=0.6491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201341175;p3_1000G_GRCH37_REF=CAGAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=52821;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN169374|MedGen:CN239310;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|not_specified|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.201372048_201372052delAGAAG;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:833781;CLINVAR_GENEINFO=TNNT2:7139;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=45533739	GT:AD:DP:GQ:PL	0/1:35,15:50:99:525,0,2345
chr1	201372213	rs868407	C	T	1434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=2.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs868407;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding|2/16|c.42-58G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding|2/15|c.42-58G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding|2/15|c.42-58G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding|2/14|c.42-58G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding|2/13|c.42+1000G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding|2/14|c.42-58G>A||||||,T|intron_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding|2/15|c.42-58G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3865;p3_1000G_AF=0.771765;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=23038;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.7465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201341341;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=986,398;ESP6500_AA_GTC=348,290,54;ESP6500_CDS_SIZES=NM_001001432.1:849,NM_001001431.1:858,NM_001001430.1:867,NM_000364.2:888;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=136;ESP6500_EA_AC=2305,877;ESP6500_EA_GTC=833,639,119;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001432.1:intron,NM_001001431.1:intron,NM_001001430.1:intron,NM_000364.2:intron;ESP6500_GL=TNNT2;ESP6500_GRCh38_POSITION=1:201372213;ESP6500_GTC=1181,929,173;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001432.1:c.42-58G>A,NM_001001431.1:c.42-58G>A,NM_001001430.1:c.42-58G>A,NM_000364.2:c.42-58G>A;ESP6500_MAF=27.5613,28.7572,27.9238;ESP6500_TAC=3291,1275	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1463,140,0
chr1	201382516	rs555476522	TGAAATGACTCCTCCTCTCCC	T	274.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.506;SOR=1.863;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=T|upstream_gene_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276345.1|protein_coding||c.-9282_-9263delGGGAGAGGAGGAGTCATTTC|||||4817|,T|upstream_gene_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_000364.3|protein_coding||c.-9282_-9263delGGGAGAGGAGGAGTCATTTC|||||4817|,T|upstream_gene_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001430.2|protein_coding||c.-9282_-9263delGGGAGAGGAGGAGTCATTTC|||||4817|,T|upstream_gene_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001431.2|protein_coding||c.-9282_-9263delGGGAGAGGAGGAGTCATTTC|||||4817|,T|upstream_gene_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001001432.2|protein_coding||c.-9282_-9263delGGGAGAGGAGGAGTCATTTC|||||4817|,T|upstream_gene_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276346.1|protein_coding||c.-9282_-9263delGGGAGAGGAGGAGTCATTTC|||||4817|,T|upstream_gene_variant|MODIFIER|TNNT2|TNNT2|transcript|NM_001276347.1|protein_coding||c.-9282_-9263delGGGAGAGGAGGAGTCATTTC|||||4817|,T|intron_variant|MODIFIER|LAD1|LAD1|transcript|NM_005558.3|protein_coding|8/9|c.1473+117_1473+136delGGGAGAGGAGGAGTCATTTC||||||	GT:AD:DP:GQ:PL	0/1:8,8:16:99:312,0,1378
chr1	201384699	rs10920189	G	C	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.366;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10920189;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LAD1|LAD1|transcript|NM_005558.3|protein_coding|5/9|c.1175+93C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2518;p3_1000G_AF=0.502796;p3_1000G_AFR_AF=0.2526;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=17807;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201353827;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:135,0,121
chr1	201386394	rs4128458	T	C	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.176;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=-0.799;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4128458;dbSNPBuildID=108;ANN=C|missense_variant|MODERATE|LAD1|LAD1|transcript|NM_005558.3|protein_coding|3/10|c.967A>G|p.Lys323Glu|1202/2839|967/1554|323/517||;p3_1000G_AA=C|||;p3_1000G_AC=2770;p3_1000G_AF=0.553115;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=15336;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.4612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201355522;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3531,871;ESP6500_AA_GTC=1427,677,97;ESP6500_CDS_SIZES=NM_005558.3:1554;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=28;ESP6500_EA_AC=4209,4391;ESP6500_EA_GTC=1011,2187,1102;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005558.3:missense;ESP6500_GL=LAD1;ESP6500_GRCh38_POSITION=1:201386394;ESP6500_GS=56;ESP6500_GTC=2438,2864,1199;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005558.3:c.967A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005558.3:p.(K323E);ESP6500_MAF=48.9419,19.7865,40.4707;ESP6500_PH=benign:0.0;ESP6500_TAC=7740,5262	GT:AD:DP:GQ:PL	0/1:8,4:12:97:97,0,237
chr1	201386815	rs2799677	C	T	555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.674;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.358;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2799677;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|LAD1|LAD1|transcript|NM_005558.3|protein_coding|3/10|c.546G>A|p.Lys182Lys|781/2839|546/1554|182/517||;p3_1000G_AA=T|||;p3_1000G_AC=2592;p3_1000G_AF=0.517572;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=14011;p3_1000G_EAS_AF=0.5179;p3_1000G_EUR_AF=0.4622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201355943;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3042,1364;ESP6500_AA_AGE=446.3+/-348.0;ESP6500_AA_GTC=1054,934,215;ESP6500_CDS_SIZES=NM_005558.3:1554;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=4199,4401;ESP6500_EA_AGE=573.6+/-389.9;ESP6500_EA_GTC=1000,2199,1101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005558.3:coding-synonymous;ESP6500_GL=LAD1;ESP6500_GRCh38_POSITION=1:201386815;ESP6500_GTC=2054,3133,1316;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005558.3:c.546G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005558.3:p.(K182);ESP6500_MAF=48.8256,30.9578,44.3257;ESP6500_TAC=7241,5765	GT:AD:DP:GQ:PL	0/1:24,25:49:99:584,0,741
chr1	201387300	rs4915230	C	A	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.101;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.425;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4915230;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|LAD1|LAD1|transcript|NM_005558.3|protein_coding|2/9|c.183-122G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2155;p3_1000G_AF=0.430312;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=20455;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.5328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201356428;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:235,0,288
chr1	201397071	rs2799679	T	C	313.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.77;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2799679;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LAD1|LAD1|transcript|NM_005558.3|protein_coding|1/9|c.38+2198A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4963;p3_1000G_AF=0.991014;p3_1000G_AFR_AF=0.9682;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=17685;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201366199;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:342,24,0
chr1	201397381	rs2719188	C	G	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.13;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=5.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=0.306;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2719188;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|LAD1|LAD1|transcript|NM_005558.3|protein_coding|1/9|c.38+1888G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1755;p3_1000G_AF=0.350439;p3_1000G_AFR_AF=0.5605;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=17627;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201366509;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:332,0,182
chr1	201399335	rs28364652	G	GT	894.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.346;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.095;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.478;SOR=0.957;INS;HET;VARTYPE=INS;dbSNP138_ID=rs28364652;dbSNPBuildID=125;ANN=GT|5_prime_UTR_variant|MODIFIER|LAD1|LAD1|transcript|NM_005558.3|protein_coding|1/10|c.-30_-29insA|||||30|,GT|downstream_gene_variant|MODIFIER|TNNI1|TNNI1|transcript|NM_003281.3|protein_coding||c.*10992_*10993insA|||||4431|;ESP6500_AA_AC=147,1451;ESP6500_AA_GTC=55,37,707;ESP6500_CDS_SIZES=NM_005558.3:1554;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=2;ESP6500_EA_AC=1134,2910;ESP6500_EA_GTC=429,276,1317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005558.3:utr-5;ESP6500_GL=LAD1;ESP6500_GRCh38_POSITION=1:201399335;ESP6500_GTC=484,313,2024;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005558.3:c.-30_-29insA;ESP6500_MAF=28.0415,9.199,22.7047;ESP6500_TAC=1281,4361	GT:AD:DP:GQ:PL	0/1:24,28:52:99:932,0,787
chr1	201414488	rs2026593	A	G	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.914;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.494;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2026593;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|TNNI1|TNNI1|transcript|NM_003281.3|protein_coding|4/7|c.189+30T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3895;p3_1000G_AF=0.777756;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=13224;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.8608;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201383616;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3387,933;ESP6500_AA_GTC=1317,753,90;ESP6500_CDS_SIZES=NM_003281.3:564;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=7;ESP6500_EA_AC=7308,1142;ESP6500_EA_GTC=3158,992,75;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003281.3:intron;ESP6500_GL=TNNI1;ESP6500_GRCh38_POSITION=1:201414488;ESP6500_GTC=4475,1745,165;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003281.3:c.189+30T>C;ESP6500_MAF=13.5148,21.5972,16.249;ESP6500_TAC=10695,2075	GT:AD:DP:GQ:PL	0/1:7,8:15:99:197,0,145
chr1	201414515	rs2026594	A	C	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.246;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.6;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2026594;dbSNPBuildID=94;ANN=C|splice_region_variant&intron_variant|LOW|TNNI1|TNNI1|transcript|NM_003281.3|protein_coding|4/7|c.189+3T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3897;p3_1000G_AF=0.778155;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=15206;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.8618;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201383643;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3334,1070;ESP6500_AA_GTC=1261,812,129;ESP6500_CDS_SIZES=NM_003281.3:564;ESP6500_CG=0.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=14;ESP6500_EA_AC=7330,1256;ESP6500_EA_GTC=3119,1092,82;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003281.3:intron;ESP6500_GL=TNNI1;ESP6500_GRCh38_POSITION=1:201414515;ESP6500_GTC=4380,1904,211;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_003281.3:c.189+3T>G;ESP6500_MAF=14.6285,24.2961,17.9061;ESP6500_TAC=10664,2326	GT:AD:DP:GQ:PL	0/1:13,11:24:99:327,0,346
chr1	201468349	rs1256930	A	T	462.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1256930;dbSNPBuildID=87;ANN=T|3_prime_UTR_variant|MODIFIER|PHLDA3|PHLDA3|transcript|NM_012396.4|protein_coding|1/2|c.*54T>A|||||54|,T|non_coding_transcript_exon_variant|MODIFIER|PHLDA3|PHLDA3|transcript|NR_073080.1|pseudogene|1/3|n.823T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1912;p3_1000G_AF=0.381789;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=18953;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.2356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201437477;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:491,42,0
chr1	201484161	rs576697	T	C	161.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.97;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs576697;dbSNPBuildID=83;ANN=C|3_prime_UTR_variant|MODIFIER|CSRP1|CSRP1|transcript|NM_001193571.1|protein_coding|6/6|c.*552A>G|||||552|,C|3_prime_UTR_variant|MODIFIER|CSRP1|CSRP1|transcript|NM_001193572.1|protein_coding|6/6|c.*552A>G|||||552|,C|3_prime_UTR_variant|MODIFIER|CSRP1|CSRP1|transcript|NM_001193570.1|protein_coding|6/6|c.*552A>G|||||552|,C|3_prime_UTR_variant|MODIFIER|CSRP1|CSRP1|transcript|NM_004078.2|protein_coding|6/6|c.*552A>G|||||552|;p3_1000G_AA=C|||;p3_1000G_AC=4330;p3_1000G_AF=0.864617;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=17630;p3_1000G_EAS_AF=0.8185;p3_1000G_EUR_AF=0.8907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201453289;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:190,18,0
chr1	201622828	rs11337755;rs796527029	CT	C	300.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.526;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.885;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.601;SOR=0.275;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11337755;dbSNPBuildID=137,146;ANN=C|intergenic_region|MODIFIER|RPS10P7-NAV1|RPS10P7-NAV1|intergenic_region|RPS10P7-NAV1|||n.201622829delT||||||;p3_1000G_AA=TTTTTTT|TTTTTTT|TTTTTT|deletion;p3_1000G_AC=327;p3_1000G_AF=0.0652955;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=18185;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.0099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201591956;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,13:22:99:338,0,213
chr1	201780392	rs529581	G	C	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.53;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.659;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-0.078;SOR=1.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs529581;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_020443.4|protein_coding|3/29|c.1227-29G>C||||||,C|intron_variant|MODIFIER|IPO9-AS1|IPO9-AS1|transcript|NR_046696.1|pseudogene|2/2|n.684+36835C>G||||||,C|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_001167738.1|protein_coding|1/26|c.54-29G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1454;p3_1000G_AF=0.290335;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=20119;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.3976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201749520;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=768,3638;ESP6500_AA_AGE=753.4+/-412.4;ESP6500_AA_GTC=76,616,1511;ESP6500_CDS_SIZES=NM_020443.4:5634,NM_001167738.1:4452;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=75;ESP6500_EA_AC=3389,5211;ESP6500_EA_AGE=640.5+/-399.6;ESP6500_EA_GTC=696,1997,1607;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020443.4:intron,NM_001167738.1:intron;ESP6500_GL=NAV1;ESP6500_GRCh38_POSITION=1:201780392;ESP6500_GTC=772,2613,3118;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020443.4:c.1227-29G>C,NM_001167738.1:c.54-29G>C;ESP6500_MAF=39.407,17.4308,31.9622;ESP6500_TAC=4157,8849	GT:AD:DP:GQ:PL	0/1:18,21:39:99:638,0,459
chr1	201783301	rs527725	A	C	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.17;ReadPosRankSum=-0.725;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs527725;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_020443.4|protein_coding|6/29|c.2358-105A>C||||||,C|intron_variant|MODIFIER|IPO9-AS1|IPO9-AS1|transcript|NR_046696.1|pseudogene|2/2|n.684+33926T>G||||||,C|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_001167738.1|protein_coding|4/26|c.1185-105A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1430;p3_1000G_AF=0.285543;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=20364;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.3976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201752429;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,10:16:99:335,0,171
chr1	201785282	rs36061932;rs56117427;rs753560474	CT	C	131.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.794;SOR=1.426;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs36061932,rs56117427;dbSNPBuildID=126,144,129;ANN=C|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_020443.4|protein_coding|7/29|c.2805-11delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|IPO9-AS1|IPO9-AS1|transcript|NR_046696.1|pseudogene|2/2|n.684+31944delA||||||,C|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_001167738.1|protein_coding|5/26|c.1632-11delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4231;p3_1000G_AF=0.844848;p3_1000G_AFR_AF=0.7579;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=15383;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.8748;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201754410;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,9:12:34:169,0,34
chr1	201786341	rs12563363	C	G	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=7.375;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=-0.342;SOR=3.145;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12563363;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_020443.4|protein_coding|8/29|c.2847-88C>G||||||,G|intron_variant|MODIFIER|IPO9-AS1|IPO9-AS1|transcript|NR_046696.1|pseudogene|2/2|n.684+30886G>C||||||,G|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_001167738.1|protein_coding|6/26|c.1674-88C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1118;p3_1000G_AF=0.223243;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=20349;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.1402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201755469;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:375,0,252
chr1	201794371	rs567185	C	T	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.11;ReadPosRankSum=-0.366;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs567185;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_020443.4|protein_coding|14/29|c.3406-95C>T||||||,T|intron_variant|MODIFIER|IPO9-AS1|IPO9-AS1|transcript|NR_046696.1|pseudogene|2/2|n.684+22856G>A||||||,T|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_001167738.1|protein_coding|12/26|c.2233-95C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2519;p3_1000G_AF=0.502995;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=15800;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201763499;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:62:169,0,62
chr1	201803735	rs34105833;~rs58235462	T	TG	893.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=1.382;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34105833;dbSNPBuildID=126;ANN=TG|upstream_gene_variant|MODIFIER|MIR1231|MIR1231|transcript|NR_031599.1|pseudogene||n.-4876_-4875insG|||||4875|,TG|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_020443.4|protein_coding|16/29|c.3641+22dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|IPO9-AS1|IPO9-AS1|transcript|NR_046696.1|pseudogene|2/2|n.684+13491dupC||||||,TG|intron_variant|MODIFIER|NAV1|NAV1|transcript|NM_001167738.1|protein_coding|14/26|c.2466+24dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGG|GGG|GGGG|deletion;p3_1000G_AC=4910;p3_1000G_AF=0.980431;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=19738;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201772863;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3995,271;ESP6500_AA_GTC=1866,263,4;ESP6500_CDS_SIZES=NM_020443.4:5634,NM_001167738.1:4452;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=38;ESP6500_EA_AC=8251,3;ESP6500_EA_GTC=4124,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020443.4:intron,NM_001167738.1:intron;ESP6500_GL=NAV1;ESP6500_GRCh38_POSITION=1:201803735;ESP6500_GTC=5990,266,4;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020443.4:c.3639+21_3639+22insG,NM_001167738.1:c.2466+21_2466+22insG;ESP6500_MAF=0.0363,6.3526,2.1885;ESP6500_TAC=12246,274	GT:AD:DP:GQ:PL	1/1:0,28:28:84:931,84,0
chr1	201808440	rs2292822	C	G	1088.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.203;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=6.292;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-1.533;SOR=1.485;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292822;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|NAV1|NAV1|transcript|NM_020443.4|protein_coding|19/30|c.3868C>G|p.His1290Asp|4215/13023|3868/5634|1290/1877||,G|missense_variant|MODERATE|NAV1|NAV1|transcript|NM_001167738.1|protein_coding|16/27|c.2686C>G|p.His896Asp|2875/11683|2686/4452|896/1483||,G|upstream_gene_variant|MODIFIER|MIR1231|MIR1231|transcript|NR_031599.1|pseudogene||n.-171C>G|||||171|,G|intron_variant|MODIFIER|IPO9-AS1|IPO9-AS1|transcript|NR_046696.1|pseudogene|2/2|n.684+8787G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=284;p3_1000G_AF=0.0567093;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=21074;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201777568;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP;ESP6500_AA_AC=8,4398;ESP6500_AA_AGE=14.3+/-33.2;ESP6500_AA_GTC=0,8,2195;ESP6500_CDS_SIZES=NM_020443.4:5634,NM_001167738.1:4452;ESP6500_CG=5.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=28,8572;ESP6500_EA_AGE=18.5+/-59.3;ESP6500_EA_GTC=0,28,4272;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020443.4:missense,NM_001167738.1:missense;ESP6500_GL=NAV1;ESP6500_GRCh38_POSITION=1:201808440;ESP6500_GS=81,81;ESP6500_GTC=0,36,6467;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020443.4:c.3868C>G,NM_001167738.1:c.2686C>G;ESP6500_HGVS_PROTEIN_VAR=NM_020443.4:p.(H1290D),NM_001167738.1:p.(H896D);ESP6500_MAF=0.3256,0.1816,0.2768;ESP6500_PH=benign:0.039,benign:0.039;ESP6500_TAC=36,12970	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1117,0,1012
chr1	201847511	rs146207613;rs377102135	ATCTTTT	A	391.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.275;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.066;SOR=1.552;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs146207613,rs377102135;dbSNPBuildID=134,138;ANN=A|intron_variant|MODIFIER|IPO9|IPO9|transcript|NM_018085.4|protein_coding|2/23|c.226-36_226-31delTTTCTT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=886,3380;ESP6500_AA_GTC=82,722,1329;ESP6500_CDS_SIZES=NM_018085.4:3126;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=65;ESP6500_EA_AC=2538,5712;ESP6500_EA_GTC=402,1734,1989;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018085.4:intron;ESP6500_GL=IPO9;ESP6500_GRCh38_POSITION=1:201847511;ESP6500_GTC=484,2456,3318;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018085.4:c.226-40_226-35del6;ESP6500_MAF=30.7636,20.7689,27.357;ESP6500_TAC=3424,9092	GT:AD:DP:GQ:PL	0/1:11,11:22:99:429,0,839
chr1	201855262	rs11576508	G	A	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.703;SOR=1.901;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11576508;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|IPO9|IPO9|transcript|NM_018085.4|protein_coding|9/23|c.970+80G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1489;p3_1000G_AF=0.297324;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=17247;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.3648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201824390;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:99:139,0,103
chr1	201857212	rs2172935	C	T	757.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.929;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.381;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=2.52;SOR=1.088;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2172935;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|IPO9|IPO9|transcript|NM_018085.4|protein_coding|11/23|c.1221+18C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1110;p3_1000G_AF=0.221645;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=17961;p3_1000G_EAS_AF=0.1022;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201826340;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1009,3397;ESP6500_AA_AGE=373.7+/-320.9;ESP6500_AA_GTC=109,791,1303;ESP6500_CDS_SIZES=NM_018085.4:3126;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=123;ESP6500_EA_AC=2719,5881;ESP6500_EA_AGE=432.8+/-357.2;ESP6500_EA_GTC=421,1877,2002;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018085.4:intron;ESP6500_GL=IPO9;ESP6500_GRCh38_POSITION=1:201857212;ESP6500_GTC=530,2668,3305;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018085.4:c.1221+18C>T;ESP6500_MAF=31.6163,22.9006,28.6637;ESP6500_TAC=3728,9278	GT:AD:DP:GQ:PL	0/1:24,27:51:99:786,0,596
chr1	201868806	rs1491428027;rs34353605;rs55642143;rs567467470	CGT	C	520.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.561;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.8;ReadPosRankSum=1.86;SOR=1.23;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34353605,rs55642143;dbSNPBuildID=126,142,137,151;ANN=C|intron_variant|MODIFIER|IPO9|IPO9|transcript|NM_018085.4|protein_coding|16/23|c.2004+32_2004+33delTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,18:21:31:558,0,31
chr1	201870931	rs112851536;rs150361248;rs2067311;rs869279944	GTTATT	G	991.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.59;SOR=1.708;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs2067311,rs150361248,rs112851536;dbSNPBuildID=134,147,132,130;ANN=G|intron_variant|MODIFIER|IPO9|IPO9|transcript|NM_018085.4|protein_coding|18/23|c.2409+82_2409+86delTTTTA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4328;p3_1000G_AF=0.864217;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=20318;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.9811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201840059;p3_1000G_GRCH37_REF=GTTATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,23:23:70:1029,70,0
chr1	201871336	rs2644124	T	C	998.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.99;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2644124;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|IPO9|IPO9|transcript|NM_018085.4|protein_coding|19/23|c.2576+9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16368;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201840464;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4320,86;ESP6500_AA_AGE=72.0+/-110.0;ESP6500_AA_GTC=2117,86,0;ESP6500_CDS_SIZES=NM_018085.4:3126;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018085.4:intron;ESP6500_GL=IPO9;ESP6500_GRCh38_POSITION=1:201871336;ESP6500_GTC=6417,86,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018085.4:c.2576+9T>C;ESP6500_MAF=0.0,1.9519,0.6612;ESP6500_TAC=12920,86	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1027,84,0
chr1	201874929	rs2271764	T	C	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.48;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.409;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271764;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|IPO9|IPO9|transcript|NM_018085.4|protein_coding|22/24|c.2931T>C|p.Ser977Ser|2981/11416|2931/3126|977/1041||;p3_1000G_AA=T|||;p3_1000G_AC=70;p3_1000G_AF=0.0139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20950;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201844057;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,16:33:99:470,0,403
chr1	201875000	rs2678203	G	A	838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2678203;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IPO9|IPO9|transcript|NM_018085.4|protein_coding|22/23|c.2938+64G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4862;p3_1000G_AF=0.970847;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21070;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201844128;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:867,69,0
chr1	201891498	rs2250377	A	G	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.53;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2250377;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|SHISA4|SHISA4|transcript|NM_198149.2|protein_coding|4/5|c.477A>G|p.Ile159Met|795/1653|477/594|159/197||,G|downstream_gene_variant|MODIFIER|LMOD1|LMOD1|transcript|NM_012134.2|protein_coding||c.*6874T>C|||||4958|,G|non_coding_transcript_exon_variant|MODIFIER|SHISA4|SHISA4|transcript|NR_030775.1|pseudogene|4/5|n.517A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3928;p3_1000G_AF=0.784345;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=16314;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.6988;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201860626;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3471,935;ESP6500_AA_AGE=359.1+/-314.7;ESP6500_AA_GTC=1352,767,84;ESP6500_CDS_SIZES=NM_198149.2:594;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=114;ESP6500_EA_AC=5872,2728;ESP6500_EA_AGE=436.7+/-358.4;ESP6500_EA_GTC=1994,1884,422;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198149.2:missense;ESP6500_GL=SHISA4;ESP6500_GRCh38_POSITION=1:201891498;ESP6500_GS=10;ESP6500_GTC=3346,2651,506;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198149.2:c.477A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198149.2:p.(I159M);ESP6500_MAF=31.7209,21.2211,28.1639;ESP6500_PH=benign:0.0;ESP6500_TAC=9343,3663	GT:AD:DP:GQ:PL	0/1:15,16:31:99:438,0,324
chr1	201969354	rs58623305	C	T	95.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs58623305;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|TIMM17A|TIMM17A|transcript|NM_006335.2|protein_coding|5/5|c.431-115C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1713;p3_1000G_AF=0.342053;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=16563;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201938482;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:123,12,0
chr1	201983166	rs73074403	C	G	22.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.75;ReadPosRankSum=0.934;SOR=2.24;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73074403;dbSNPBuildID=130;ANN=G|upstream_gene_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding||c.-297C>G|||||164|,G|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|1/10|c.447+53C>G||||||,G|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|1/9|c.-421+53C>G||||||,G|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|1/9|c.-275+53C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2570;p3_1000G_AF=0.513179;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=12162;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201952294;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,2:13:51:0|1:201983166_C_G:51,0,722
chr1	201983182	rs112370844	T	G	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=-1.534;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112370844;dbSNPBuildID=132;ANN=G|upstream_gene_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding||c.-281T>G|||||148|,G|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|1/10|c.447+69T>G||||||,G|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|1/9|c.-421+69T>G||||||,G|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|1/9|c.-275+69T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2571;p3_1000G_AF=0.513379;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=12484;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201952310;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,4:16:99:0|1:201983166_C_G:113,0,719
chr1	201983278	rs375065405	T	C	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.539;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.52;SOR=0.184;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375065405;dbSNPBuildID=138;ANN=C|upstream_gene_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding||c.-185T>C|||||52|,C|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|1/10|c.447+165T>C||||||,C|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|1/9|c.-421+165T>C||||||,C|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|1/9|c.-275+165T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15711;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201952406;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:247,0,268
chr1	201983446	rs4950806	T	C	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.145;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.609;SOR=0.731;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4950806;dbSNPBuildID=111;ANN=C|5_prime_UTR_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding|1/11|c.-17T>C|||||17|,C|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|1/10|c.447+333T>C||||||,C|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|1/9|c.-421+333T>C||||||,C|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|1/9|c.-275+333T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2825;p3_1000G_AF=0.564097;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=19484;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201952574;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,24:46:99:670,0,531
chr1	201983470	rs56768485	G	A	664.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.714;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.022;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56768485;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding|1/11|c.8G>A|p.Cys3Tyr|141/2124|8/1560|3/519||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|1/10|c.447+357G>A||||||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|1/9|c.-421+357G>A||||||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|1/9|c.-275+357G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1733;p3_1000G_AF=0.346046;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=20206;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201952598;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,27:51:99:693,0,687
chr1	201983627	rs4950807	T	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.951;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=1.12;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4950807;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|1/10|c.447+514T>A||||||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|1/9|c.-421+514T>A||||||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|1/9|c.-275+514T>A||||||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding|1/10|c.54+111T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2568;p3_1000G_AF=0.51278;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=19954;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.6054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201952755;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:237,0,399
chr1	201999954	rs1130790	G	A	650.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.77;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.082;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1130790;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|6/11|c.1143G>A|p.Gln381Gln|1172/2413|1143/1953|381/650||,A|synonymous_variant|LOW|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|5/10|c.273G>A|p.Gln91Gln|1169/2410|273/1083|91/360||,A|synonymous_variant|LOW|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|5/10|c.273G>A|p.Gln91Gln|1023/2264|273/1083|91/360||,A|synonymous_variant|LOW|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding|6/11|c.750G>A|p.Gln250Gln|883/2124|750/1560|250/519||,A|upstream_gene_variant|MODIFIER|MIR6740|MIR6740|transcript|NR_106798.1|pseudogene||n.-3170G>A|||||3170|;p3_1000G_AA=G|||;p3_1000G_AC=1545;p3_1000G_AF=0.308506;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=18265;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.4284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201969082;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=802,3604;ESP6500_AA_AGE=320.2+/-296.5;ESP6500_AA_GTC=72,658,1473;ESP6500_CDS_SIZES=NM_020216.3:1953;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=87;ESP6500_EA_AC=3723,4877;ESP6500_EA_AGE=529.8+/-381.7;ESP6500_EA_GTC=795,2133,1372;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020216.3:coding-synonymous;ESP6500_GL=RNPEP;ESP6500_GRCh38_POSITION=1:201999954;ESP6500_GTC=867,2791,2845;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020216.3:c.1143G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020216.3:p.(Q381);ESP6500_MAF=43.2907,18.2025,34.7916;ESP6500_TAC=4525,8481	GT:AD:DP:GQ:PL	0/1:36,27:63:99:679,0,1094
chr1	202001434	rs4332408	T	C	2606.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4332408;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|7/11|c.1263T>C|p.Val421Val|1292/2413|1263/1953|421/650||,C|synonymous_variant|LOW|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|6/10|c.393T>C|p.Val131Val|1289/2410|393/1083|131/360||,C|synonymous_variant|LOW|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|6/10|c.393T>C|p.Val131Val|1143/2264|393/1083|131/360||,C|synonymous_variant|LOW|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding|7/11|c.870T>C|p.Val290Val|1003/2124|870/1560|290/519||,C|upstream_gene_variant|MODIFIER|MIR6740|MIR6740|transcript|NR_106798.1|pseudogene||n.-1690T>C|||||1690|;p3_1000G_AA=C|||;p3_1000G_AC=4901;p3_1000G_AF=0.978634;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20418;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201970562;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4139,267;ESP6500_AA_AGE=151.0+/-185.0;ESP6500_AA_GTC=1948,243,12;ESP6500_CDS_SIZES=NM_020216.3:1953;ESP6500_CG=0.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=105;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020216.3:coding-synonymous;ESP6500_GL=RNPEP;ESP6500_GRCh38_POSITION=1:202001434;ESP6500_GTC=6245,246,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020216.3:c.1263T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020216.3:p.(V421);ESP6500_MAF=0.0349,6.0599,2.076;ESP6500_TAC=12736,270	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2635,234,0
chr1	202001620	rs4131469	G	A	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.638;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.29;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.131;SOR=1.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4131469;dbSNPBuildID=108;ANN=A|upstream_gene_variant|MODIFIER|MIR6740|MIR6740|transcript|NR_106798.1|pseudogene||n.-1504G>A|||||1504|,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|7/10|c.1318-39G>A||||||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|6/9|c.448-39G>A||||||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|6/9|c.448-39G>A||||||,A|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding|7/10|c.925-39G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=17715;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.4294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201970748;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=811,3595;ESP6500_AA_AGE=323.2+/-298.0;ESP6500_AA_GTC=72,667,1464;ESP6500_CDS_SIZES=NM_020216.3:1953;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=78;ESP6500_EA_AC=3731,4869;ESP6500_EA_AGE=532.2+/-382.1;ESP6500_EA_GTC=798,2135,1367;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020216.3:intron;ESP6500_GL=RNPEP;ESP6500_GRCh38_POSITION=1:202001620;ESP6500_GTC=870,2802,2831;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020216.3:c.1318-39G>A;ESP6500_MAF=43.3837,18.4067,34.9223;ESP6500_TAC=4542,8464	GT:AD:DP:GQ:PL	0/1:18,15:33:99:402,0,436
chr1	202001858	rs35227221;rs397962821	C	CA	110.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.691;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=2.13;SOR=0.33;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35227221;dbSNPBuildID=126,138;ANN=CA|upstream_gene_variant|MODIFIER|MIR6740|MIR6740|transcript|NR_106798.1|pseudogene||n.-1266_-1265insA|||||1265|,CA|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|8/10|c.1426+92dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|7/9|c.556+92dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|7/9|c.556+92dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding|8/10|c.1033+92dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=A|A|AA|insertion;p3_1000G_AC=1636;p3_1000G_AF=0.326677;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=18225;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.2942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201970986;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,5:13:99:148,0,261
chr1	202004437	rs3820439	G	A	487.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.356;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=6.267;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.31;SOR=1.222;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820439;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|RNPEP|RNPEP|transcript|NM_020216.3|protein_coding|10/11|c.1735G>A|p.Val579Ile|1764/2413|1735/1953|579/650||,A|missense_variant|MODERATE|RNPEP|RNPEP|transcript|NM_001319183.1|protein_coding|9/10|c.865G>A|p.Val289Ile|1761/2410|865/1083|289/360||,A|missense_variant|MODERATE|RNPEP|RNPEP|transcript|NM_001319184.1|protein_coding|9/10|c.865G>A|p.Val289Ile|1615/2264|865/1083|289/360||,A|missense_variant|MODERATE|RNPEP|RNPEP|transcript|NM_001319182.1|protein_coding|10/11|c.1342G>A|p.Val448Ile|1475/2124|1342/1560|448/519||,A|downstream_gene_variant|MODIFIER|MIR6740|MIR6740|transcript|NR_106798.1|pseudogene||n.*1201G>A|||||1201|;p3_1000G_AA=G|||;p3_1000G_AC=1658;p3_1000G_AF=0.33107;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=19561;p3_1000G_EAS_AF=0.3968;p3_1000G_EUR_AF=0.2942;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201973565;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1130,3276;ESP6500_AA_AGE=404.6+/-333.2;ESP6500_AA_GTC=125,880,1198;ESP6500_CDS_SIZES=NM_020216.3:1953;ESP6500_CG=2.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=117;ESP6500_EA_AC=2440,6160;ESP6500_EA_AGE=403.3+/-347.8;ESP6500_EA_GTC=354,1732,2214;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020216.3:missense;ESP6500_GL=RNPEP;ESP6500_GRCh38_POSITION=1:202004437;ESP6500_GS=29;ESP6500_GTC=479,2612,3412;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020216.3:c.1735G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020216.3:p.(V579I);ESP6500_MAF=28.3721,25.6468,27.4489;ESP6500_PH=benign:0.018;ESP6500_TAC=3570,9436	GT:AD:DP:GQ:PL	0/1:23,22:45:99:516,0,686
chr1	202012217	rs148049760	ATGT	A	463.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.12;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.518;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.438;SOR=0.586;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs148049760;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ELF3|ELF3|transcript|NM_001114309.1|protein_coding|3/8|c.385+42_385+44delTTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ELF3|ELF3|transcript|NM_004433.4|protein_coding|3/8|c.385+42_385+44delTTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=90;p3_1000G_AF=0.0179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18437;p3_1000G_EAS_AF=0.0784;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201981345;p3_1000G_GRCH37_REF=ATGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:15,13:28:99:501,0,712
chr1	202012734	rs2819362	T	C	260.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.044;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.21;SOR=1.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2819362;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|ELF3|ELF3|transcript|NM_001114309.1|protein_coding|5/9|c.573T>C|p.Pro191Pro|840/3247|573/1116|191/371||,C|synonymous_variant|LOW|ELF3|ELF3|transcript|NM_004433.4|protein_coding|5/9|c.573T>C|p.Pro191Pro|726/3133|573/1116|191/371||;p3_1000G_AA=t|||;p3_1000G_AC=3527;p3_1000G_AF=0.704273;p3_1000G_AFR_AF=0.8464;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=15478;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.5467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201981862;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3421,985;ESP6500_AA_GTC=1335,751,117;ESP6500_CDS_SIZES=NM_004433.4:1116,NM_001114309.1:1116;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=31;ESP6500_EA_AC=4458,4140;ESP6500_EA_GTC=1166,2126,1007;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004433.4:coding-synonymous,NM_001114309.1:coding-synonymous;ESP6500_GL=ELF3;ESP6500_GRCh38_POSITION=1:202012734;ESP6500_GTC=2501,2877,1124;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004433.4:c.573T>C,NM_001114309.1:c.573T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004433.4:p.(P191),NM_001114309.1:p.(P191);ESP6500_MAF=48.1507,22.3559,39.411;ESP6500_TAC=7879,5125	GT:AD:DP:GQ:PL	0/1:19,13:32:99:289,0,471
chr1	202122918	rs3795593	C	T	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-0.842;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795593;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|GPR37L1|GPR37L1|transcript|NM_004767.3|protein_coding|1/2|c.-46C>T|||||46|;p3_1000G_AA=C|||;p3_1000G_AC=3003;p3_1000G_AF=0.599641;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=16719;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.8449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202092046;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2138,2210;ESP6500_AA_GTC=549,1040,585;ESP6500_CDS_SIZES=NM_004767.3:1446;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=21;ESP6500_EA_AC=7071,1387;ESP6500_EA_GTC=2961,1149,119;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004767.3:utr-5;ESP6500_GL=GPR37L1;ESP6500_GRCh38_POSITION=1:202122918;ESP6500_GTC=3510,2189,704;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004767.3:c.-46C>T;ESP6500_MAF=16.3987,49.172,28.0884;ESP6500_TAC=9209,3597	GT:AD:DP:GQ:PL	0/1:2,4:6:67:124,0,67
chr1	202123232	rs3795595	G	A	630.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.08;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.642;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.7;SOR=0.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795595;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|GPR37L1|GPR37L1|transcript|NM_004767.3|protein_coding|1/2|c.269G>A|p.Gly90Asp|332/2459|269/1446|90/481||;p3_1000G_AA=A|||;p3_1000G_AC=4259;p3_1000G_AF=0.850439;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.83;p3_1000G_AN=5008;p3_1000G_DP=18005;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.9066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202092360;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3577,829;ESP6500_AA_AGE=328.3+/-300.5;ESP6500_AA_GTC=1455,667,81;ESP6500_CDS_SIZES=NM_004767.3:1446;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=42;ESP6500_EA_AC=7684,916;ESP6500_EA_AGE=201.4+/-244.9;ESP6500_EA_GTC=3426,832,42;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004767.3:missense;ESP6500_GL=GPR37L1;ESP6500_GRCh38_POSITION=1:202123232;ESP6500_GS=94;ESP6500_GTC=4881,1499,123;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004767.3:c.269G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004767.3:p.(G90D);ESP6500_MAF=10.6512,18.8153,13.4169;ESP6500_PH=benign:0.0;ESP6500_TAC=11261,1745	GT:AD:DP:GQ:PL	0/1:31,26:57:99:659,0,896
chr1	202123287	rs3795596	A	G	981.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.387;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=3.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.869;SOR=0.373;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795596;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|GPR37L1|GPR37L1|transcript|NM_004767.3|protein_coding|1/2|c.324A>G|p.Gly108Gly|387/2459|324/1446|108/481||;p3_1000G_AA=G|||;p3_1000G_AC=4265;p3_1000G_AF=0.851637;p3_1000G_AFR_AF=0.7814;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=18029;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.9066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202092415;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3601,805;ESP6500_AA_AGE=321.5+/-297.2;ESP6500_AA_GTC=1476,649,78;ESP6500_CDS_SIZES=NM_004767.3:1446;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=93;ESP6500_EA_AC=7685,915;ESP6500_EA_AGE=200.7+/-244.4;ESP6500_EA_GTC=3428,829,43;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004767.3:coding-synonymous;ESP6500_GL=GPR37L1;ESP6500_GRCh38_POSITION=1:202123287;ESP6500_GTC=4904,1478,121;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004767.3:c.324A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004767.3:p.(G108);ESP6500_MAF=10.6395,18.2705,13.2247;ESP6500_TAC=11286,1720	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1010,0,1075
chr1	202123451	rs778224488	G	A	1148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.244;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=1.801;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.272;SOR=0.879;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|GPR37L1|GPR37L1|transcript|NM_004767.3|protein_coding|1/2|c.488G>A|p.Ser163Asn|551/2459|488/1446|163/481||	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1177,0,1413
chr1	202123452	rs7516762	T	C	846.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.452;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=1.801;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.546;SOR=0.572;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7516762;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|GPR37L1|GPR37L1|transcript|NM_004767.3|protein_coding|1/2|c.489T>C|p.Ser163Ser|552/2459|489/1446|163/481||;p3_1000G_AA=t|||;p3_1000G_AC=4164;p3_1000G_AF=0.83147;p3_1000G_AFR_AF=0.7088;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=19480;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.9066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202092580;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3362,1044;ESP6500_AA_AGE=725.2+/-409.6;ESP6500_AA_GTC=1285,792,126;ESP6500_CDS_SIZES=NM_004767.3:1446;ESP6500_CG=-5.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=119;ESP6500_EA_AC=7687,913;ESP6500_EA_AGE=777.9+/-407.7;ESP6500_EA_GTC=3428,831,41;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004767.3:coding-synonymous;ESP6500_GL=GPR37L1;ESP6500_GRCh38_POSITION=1:202123452;ESP6500_GTC=4713,1623,167;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004767.3:c.489T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004767.3:p.(S163);ESP6500_MAF=10.6163,23.695,15.0469;ESP6500_TAC=11049,1957	GT:AD:DP:GQ:PL	0/1:47,37:84:99:875,0,1852
chr1	202127687	rs3820380	G	A	712.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.794;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=1.17;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820380;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|GPR37L1|GPR37L1|transcript|NM_004767.3|protein_coding|1/1|c.631-54G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2595;p3_1000G_AF=0.518171;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=21316;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.7773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202096815;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,28:46:99:741,0,496
chr1	202138294	rs140055888;rs60365890	AACACAC	A	403.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.12;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.92;ReadPosRankSum=0.284;SOR=1.061;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72390540,rs140055888,rs60365890;dbSNPBuildID=134,129;ANN=A|intron_variant|MODIFIER|ARL8A|ARL8A|transcript|NM_138795.3|protein_coding|2/6|c.204+68_204+73delGTGTGT||||||,A|intron_variant|MODIFIER|ARL8A|ARL8A|transcript|NM_001256129.1|protein_coding|2/5|c.204+68_204+73delGTGTGT||||||	GT:AD:DP:GQ:PL	0/1:4,11:15:99:441,0,303
chr1	202144707	rs4989100	T	G	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.189;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4989100;dbSNPBuildID=126;ANN=G|5_prime_UTR_variant|MODIFIER|ARL8A|ARL8A|transcript|NM_138795.3|protein_coding|1/7|c.-135A>C|||||135|,G|5_prime_UTR_variant|MODIFIER|ARL8A|ARL8A|transcript|NM_001256129.1|protein_coding|1/6|c.-135A>C|||||135|,G|downstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_002832.3|protein_coding||c.*3899A>C|||||2306|,G|downstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_080588.2|protein_coding||c.*3899A>C|||||2306|,G|downstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_001199797.1|protein_coding||c.*3899A>C|||||2306|,G|downstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037663.1|pseudogene||n.*2306A>C|||||2306|,G|downstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037664.1|pseudogene||n.*2306A>C|||||2306|;p3_1000G_AA=G|||;p3_1000G_AC=3558;p3_1000G_AF=0.710463;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=4890;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.5984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202113835;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:88:102,0,88
chr1	202150180	rs7551879	T	C	630.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.52;ReadPosRankSum=0.554;SOR=0.57;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7551879;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_002832.3|protein_coding|9/9|c.1304+131A>G||||||,C|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_080588.2|protein_coding|8/8|c.1106+131A>G||||||,C|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_001199797.1|protein_coding|9/9|c.1211+131A>G||||||,C|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037663.1|pseudogene|9/9|n.2032+131A>G||||||,C|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037664.1|pseudogene|8/8|n.1901+131A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1227;p3_1000G_AF=0.245008;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=18989;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202119308;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,22:36:99:659,0,384
chr1	202152515	rs10920337	G	A	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.358;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10920337;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_002832.3|protein_coding|8/9|c.1190+27C>T||||||,A|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_080588.2|protein_coding|7/8|c.992+27C>T||||||,A|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_001199797.1|protein_coding|8/9|c.1097+27C>T||||||,A|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037663.1|pseudogene|8/9|n.1918+27C>T||||||,A|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037664.1|pseudogene|7/8|n.1787+27C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2197;p3_1000G_AF=0.438698;p3_1000G_AFR_AF=0.7247;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=16580;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.2565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202121643;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2730,1676;ESP6500_AA_GTC=842,1046,315;ESP6500_CDS_SIZES=NM_080588.2:1200,NM_002832.3:1398,NM_001199797.1:1305;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=17;ESP6500_EA_AC=2132,6466;ESP6500_EA_GTC=271,1590,2438;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080588.2:intron,NM_002832.3:intron,NM_001199797.1:intron;ESP6500_GL=PTPN7;ESP6500_GRCh38_POSITION=1:202152515;ESP6500_GTC=1113,2636,2753;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080588.2:c.992+27C>T,NM_002832.3:c.1190+27C>T,NM_001199797.1:c.1097+27C>T;ESP6500_MAF=24.7965,38.039,37.3885;ESP6500_TAC=4862,8142	GT:AD:DP:GQ:PL	0/1:13,15:28:99:429,0,393
chr1	202160489	rs376769605	C	T	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.998;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-0.605;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376769605;dbSNPBuildID=138;ANN=T|upstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_080588.2|protein_coding||c.-970G>A|||||498|,T|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_002832.3|protein_coding|1/9|c.263+56G>A||||||,T|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_001199797.1|protein_coding|1/9|c.174+898G>A||||||,T|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037663.1|pseudogene|1/9|n.1044+56G>A||||||,T|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037664.1|pseudogene|1/8|n.1044+56G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=16;p3_1000G_AF=0.00319489;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15874;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202129617;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,6:11:99:0|1:202160489_C_T:216,0,107
chr1	202160698	rs4309039;rs79109068	T	C	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.21;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=2.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.322;SOR=1.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371513634,rs4309039;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|PTPN7|PTPN7|transcript|NM_002832.3|protein_coding|1/10|c.110A>G|p.Gln37Arg|891/3772|110/1398|37/465||,C|upstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_080588.2|protein_coding||c.-1179A>G|||||707|,C|intron_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_001199797.1|protein_coding|1/9|c.174+689A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037663.1|pseudogene|1/10|n.891A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037664.1|pseudogene|1/9|n.891A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2120;p3_1000G_AF=0.423323;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=13966;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202129826;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=171,1191;ESP6500_AA_GTC=30,111,540;ESP6500_CDS_SIZES=NM_002832.3:1398,NM_001199797.1:1305;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=2;ESP6500_EA_AC=1133,2023;ESP6500_EA_GTC=267,599,712;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002832.3:missense,NM_001199797.1:intron;ESP6500_GL=PTPN7;ESP6500_GRCh38_POSITION=1:202160698;ESP6500_GS=43,.;ESP6500_GTC=297,710,1252;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002832.3:c.110A>G,NM_001199797.1:c.174+689A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002832.3:p.(Q37R),.;ESP6500_MAF=35.8999,12.5551,28.8623;ESP6500_TAC=1304,3214	GT:AD:DP:GQ:PL	0/1:16,19:35:99:432,0,368
chr1	202161626	rs3934648	T	C	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.554;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3934648;dbSNPBuildID=108;ANN=C|upstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_002832.3|protein_coding||c.-819A>G|||||38|,C|upstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_080588.2|protein_coding||c.-2107A>G|||||1635|,C|upstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NM_001199797.1|protein_coding||c.-66A>G|||||38|,C|upstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037663.1|pseudogene||n.-38A>G|||||38|,C|upstream_gene_variant|MODIFIER|PTPN7|PTPN7|transcript|NR_037664.1|pseudogene||n.-38A>G|||||38|,C|intergenic_region|MODIFIER|PTPN7-PTPRVP|PTPN7-PTPRVP|intergenic_region|PTPN7-PTPRVP|||n.202161626T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3984;p3_1000G_AF=0.795527;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=18022;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.7664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202130754;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:130,0,146
chr1	202193935	rs2361431	T	C	230.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2361431;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017403.1|protein_coding||c.-55T>C|||||55|,C|downstream_gene_variant|MODIFIER|PTPRVP|PTPRVP|transcript|NR_002930.2|pseudogene||n.*4486T>C|||||4486|,C|intergenic_region|MODIFIER|PTPRVP-LGR6|PTPRVP-LGR6|intergenic_region|PTPRVP-LGR6|||n.202193935T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3410;p3_1000G_AF=0.680911;p3_1000G_AFR_AF=0.2897;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=7359;p3_1000G_EAS_AF=0.7192;p3_1000G_EUR_AF=0.831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202163063;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:259,21,0
chr1	202194236	rs2077598	C	G	766.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2077598;dbSNPBuildID=96;ANN=G|downstream_gene_variant|MODIFIER|PTPRVP|PTPRVP|transcript|NR_002930.2|pseudogene||n.*4787C>G|||||4787|,G|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|1/17|c.212+35C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3111;p3_1000G_AF=0.621206;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=12476;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.7654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202163364;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1566,2152;ESP6500_AA_GTC=356,854,649;ESP6500_CDS_SIZES=NM_001017403.1:2904;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=9;ESP6500_EA_AC=5847,1609;ESP6500_EA_GTC=2350,1147,231;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017403.1:intron;ESP6500_GL=LGR6;ESP6500_GRCh38_POSITION=1:202194236;ESP6500_GTC=2706,2001,880;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001017403.1:c.212+35C>G;ESP6500_MAF=21.5799,42.1194,33.6585;ESP6500_TAC=7413,3761	GT:AD:DP:GQ:PL	1/1:0,25:25:75:795,75,0
chr1	202228033	rs3795598	C	T	672.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.326;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=2.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.235;SOR=1.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795598;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|3/17|c.356+26C>T||||||,T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_021636.2|protein_coding|3/17|c.200+26C>T||||||,T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|3/15|c.227+26C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1247;p3_1000G_AF=0.249002;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=19667;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.4235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202197161;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=622,3784;ESP6500_AA_AGE=270.1+/-269.4;ESP6500_AA_GTC=60,502,1641;ESP6500_CDS_SIZES=NM_021636.2:2748,NM_001017404.1:2487,NM_001017403.1:2904;ESP6500_CG=4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=86;ESP6500_EA_AC=3488,5112;ESP6500_EA_AGE=510.1+/-377.4;ESP6500_EA_GTC=719,2050,1531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021636.2:intron,NM_001017404.1:intron,NM_001017403.1:intron;ESP6500_GL=LGR6;ESP6500_GRCh38_POSITION=1:202228033;ESP6500_GTC=779,2552,3172;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021636.2:c.200+26C>T,NM_001017404.1:c.227+26C>T,NM_001017403.1:c.356+26C>T;ESP6500_MAF=40.5581,14.1171,31.6008;ESP6500_TAC=4110,8896	GT:AD:DP:GQ:PL	0/1:28,31:59:99:701,0,625
chr1	202236057	rs372854653	GC	G	128.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.876;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.24;SOR=2.303;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs372854653;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|4/17|c.428+69delC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_021636.2|protein_coding|4/17|c.272+69delC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|4/15|c.299+69delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCCCC|CCCCC|CCCC|deletion;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15101;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202205185;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,6:10:92:166,0,92
chr1	202297419	rs788827	C	T	795.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs788827;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|6/17|c.717-89C>T||||||,T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_021636.2|protein_coding|6/17|c.561-89C>T||||||,T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|4/15|c.300-89C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3216;p3_1000G_AF=0.642173;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=16390;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.6352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202266547;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:824,72,0
chr1	202297479	rs788826	C	T	1184.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.62;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs788826;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|6/17|c.717-29C>T||||||,T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_021636.2|protein_coding|6/17|c.561-29C>T||||||,T|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|4/15|c.300-29C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2734;p3_1000G_AF=0.545927;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=14803;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.5457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202266607;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1506,2900;ESP6500_AA_AGE=675.0+/-403.0;ESP6500_AA_GTC=255,996,952;ESP6500_CDS_SIZES=NM_021636.2:2748,NM_001017404.1:2487,NM_001017403.1:2904;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=91;ESP6500_EA_AC=4317,4283;ESP6500_EA_AGE=576.0+/-390.3;ESP6500_EA_GTC=1067,2183,1050;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021636.2:intron,NM_001017404.1:intron,NM_001017403.1:intron;ESP6500_GL=LGR6;ESP6500_GRCh38_POSITION=1:202297479;ESP6500_GTC=1322,3179,2002;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021636.2:c.561-29C>T,NM_001017404.1:c.300-29C>T,NM_001017403.1:c.717-29C>T;ESP6500_MAF=49.8023,34.1807,44.7716;ESP6500_TAC=5823,7183	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1213,120,0
chr1	202305808	rs705762	T	C	2581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs705762;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|12/17|c.1136+59T>C||||||,C|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_021636.2|protein_coding|12/17|c.980+59T>C||||||,C|intron_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|10/15|c.719+59T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2684;p3_1000G_AF=0.535942;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=20510;p3_1000G_EAS_AF=0.7183;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202274936;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6084;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=444,940;ESP6500_AA_GTC=67,310,315;ESP6500_CDS_SIZES=NM_021636.2:2748,NM_001017404.1:2487,NM_001017403.1:2904;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=36;ESP6500_EA_AC=1637,1545;ESP6500_EA_GTC=419,799,373;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021636.2:intron,NM_001017404.1:intron,NM_001017403.1:intron;ESP6500_GL=LGR6;ESP6500_GRCh38_POSITION=1:202305808;ESP6500_GTC=486,1109,688;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021636.2:c.980+59T>C,NM_001017404.1:c.719+59T>C,NM_001017403.1:c.1136+59T>C;ESP6500_MAF=48.5544,32.0809,45.576;ESP6500_TAC=2081,2485	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2610,234,0
chr1	202307366	rs896551	C	T	1667.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=0.97;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs896551;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|14/18|c.1245C>T|p.Pro415Pro|1245/3458|1245/2904|415/967||,T|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_021636.2|protein_coding|14/18|c.1089C>T|p.Pro363Pro|1132/3345|1089/2748|363/915||,T|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|12/16|c.828C>T|p.Pro276Pro|828/3041|828/2487|276/828||;p3_1000G_AA=C|||;p3_1000G_AC=2674;p3_1000G_AF=0.533946;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=20510;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.5447;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202276494;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6084;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1385,3021;ESP6500_AA_AGE=457.1+/-351.5;ESP6500_AA_GTC=216,953,1034;ESP6500_CDS_SIZES=NM_021636.2:2748,NM_001017404.1:2487,NM_001017403.1:2904;ESP6500_CG=-10.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=153;ESP6500_EA_AC=4312,4288;ESP6500_EA_AGE=578.0+/-390.6;ESP6500_EA_GTC=1065,2182,1053;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021636.2:coding-synonymous,NM_001017404.1:coding-synonymous,NM_001017403.1:coding-synonymous;ESP6500_GL=LGR6;ESP6500_GRCh38_POSITION=1:202307366;ESP6500_GTC=1281,3135,2087;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021636.2:c.1089C>T,NM_001017404.1:c.828C>T,NM_001017403.1:c.1245C>T;ESP6500_HGVS_PROTEIN_VAR=NM_021636.2:p.(P363),NM_001017404.1:p.(P276),NM_001017403.1:p.(P415);ESP6500_MAF=49.8605,31.4344,43.8029;ESP6500_TAC=5697,7309	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1696,165,0
chr1	202318078	rs788795	T	C	1607.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.21;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs788795;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|18/18|c.1775T>C|p.Val592Ala|1775/3458|1775/2904|592/967||,C|missense_variant|MODERATE|LGR6|LGR6|transcript|NM_021636.2|protein_coding|18/18|c.1619T>C|p.Val540Ala|1662/3345|1619/2748|540/915||,C|missense_variant|MODERATE|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|16/16|c.1358T>C|p.Val453Ala|1358/3041|1358/2487|453/828||;p3_1000G_AA=T|||;p3_1000G_AC=3055;p3_1000G_AF=0.610024;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=18029;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.6392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202287206;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1627,2779;ESP6500_AA_AGE=496.4+/-363.5;ESP6500_AA_GTC=295,1037,871;ESP6500_CDS_SIZES=NM_021636.2:2748,NM_001017404.1:2487,NM_001017403.1:2904;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=79;ESP6500_EA_AC=5242,3358;ESP6500_EA_AGE=638.1+/-399.3;ESP6500_EA_GTC=1602,2038,660;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021636.2:missense,NM_001017404.1:missense,NM_001017403.1:missense;ESP6500_GL=LGR6;ESP6500_GRCh38_POSITION=1:202318078;ESP6500_GS=64,64,64;ESP6500_GTC=1897,3075,1531;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021636.2:c.1619T>C,NM_001017404.1:c.1358T>C,NM_001017403.1:c.1775T>C;ESP6500_HGVS_PROTEIN_VAR=NM_021636.2:p.(V540A),NM_001017404.1:p.(V453A),NM_001017403.1:p.(V592A);ESP6500_MAF=39.0465,36.9269,47.1859;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=6869,6137	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1636,141,0
chr1	202318409	rs788794	G	A	1566.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=1.958;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs788794;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|18/18|c.2106G>A|p.Ala702Ala|2106/3458|2106/2904|702/967||,A|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_021636.2|protein_coding|18/18|c.1950G>A|p.Ala650Ala|1993/3345|1950/2748|650/915||,A|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|16/16|c.1689G>A|p.Ala563Ala|1689/3041|1689/2487|563/828||;p3_1000G_AA=G|||;p3_1000G_AC=2644;p3_1000G_AF=0.527955;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=14115;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.5268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202287537;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1383,3019;ESP6500_AA_GTC=216,951,1034;ESP6500_CDS_SIZES=NM_021636.2:2748,NM_001017404.1:2487,NM_001017403.1:2904;ESP6500_CG=-5.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=18;ESP6500_EA_AC=4113,4481;ESP6500_EA_GTC=990,2133,1174;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021636.2:coding-synonymous,NM_001017404.1:coding-synonymous,NM_001017403.1:coding-synonymous;ESP6500_GL=LGR6;ESP6500_GRCh38_POSITION=1:202318409;ESP6500_GTC=1206,3084,2208;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021636.2:c.1950G>A,NM_001017404.1:c.1689G>A,NM_001017403.1:c.2106G>A;ESP6500_HGVS_PROTEIN_VAR=NM_021636.2:p.(A650),NM_001017404.1:p.(A563),NM_001017403.1:p.(A702);ESP6500_MAF=47.859,31.4175,42.2899;ESP6500_TAC=5496,7500	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1595,150,0
chr1	202318685	rs788793	T	C	2597.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs788793;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|18/18|c.2382T>C|p.Phe794Phe|2382/3458|2382/2904|794/967||,C|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_021636.2|protein_coding|18/18|c.2226T>C|p.Phe742Phe|2269/3345|2226/2748|742/915||,C|synonymous_variant|LOW|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|16/16|c.1965T>C|p.Phe655Phe|1965/3041|1965/2487|655/828||;p3_1000G_AA=C|||;p3_1000G_AC=3057;p3_1000G_AF=0.610423;p3_1000G_AFR_AF=0.3389;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=16498;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.6392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202287813;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1644,2762;ESP6500_AA_AGE=659.1+/-400.5;ESP6500_AA_GTC=301,1042,860;ESP6500_CDS_SIZES=NM_021636.2:2748,NM_001017404.1:2487,NM_001017403.1:2904;ESP6500_CG=-6.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=87;ESP6500_EA_AC=5260,3340;ESP6500_EA_AGE=497.1+/-374.4;ESP6500_EA_GTC=1601,2058,641;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021636.2:coding-synonymous,NM_001017404.1:coding-synonymous,NM_001017403.1:coding-synonymous;ESP6500_GL=LGR6;ESP6500_GRCh38_POSITION=1:202318685;ESP6500_GTC=1902,3100,1501;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021636.2:c.2226T>C,NM_001017404.1:c.1965T>C,NM_001017403.1:c.2382T>C;ESP6500_HGVS_PROTEIN_VAR=NM_021636.2:p.(F742),NM_001017404.1:p.(F655),NM_001017403.1:p.(F794);ESP6500_MAF=38.8372,37.3128,46.9168;ESP6500_TAC=6904,6102	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2626,228,0
chr1	202319334	rs788792	C	A	2454.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=2.055;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs788792;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017403.1|protein_coding|18/18|c.*127C>A|||||127|,A|3_prime_UTR_variant|MODIFIER|LGR6|LGR6|transcript|NM_021636.2|protein_coding|18/18|c.*127C>A|||||127|,A|3_prime_UTR_variant|MODIFIER|LGR6|LGR6|transcript|NM_001017404.1|protein_coding|16/16|c.*127C>A|||||127|;p3_1000G_AA=C|||;p3_1000G_AC=3056;p3_1000G_AF=0.610224;p3_1000G_AFR_AF=0.3389;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=20617;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.6382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202288462;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2483,243,0
chr1	202335740	rs14451	T	C	1250.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.8;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs14451;dbSNPBuildID=52;ANN=C|protein_protein_contact|HIGH|UBE2T|UBE2T|interaction|4CCG:A_5-X_310:NM_014176.3-NM_018062.3|protein_coding|2/7|c.15A>G||||||,C|protein_protein_contact|HIGH|UBE2T|UBE2T|interaction|4CCG:B_5-Y_310:NM_014176.3-NM_018062.3|protein_coding|2/7|c.15A>G||||||,C|synonymous_variant|LOW|UBE2T|UBE2T|transcript|NM_014176.3|protein_coding|2/7|c.15A>G|p.Ser5Ser|151/908|15/594|5/197||,C|5_prime_UTR_variant|MODIFIER|UBE2T|UBE2T|transcript|NM_001310326.1|protein_coding|2/7|c.-80A>G|||||80|;p3_1000G_AA=T|||;p3_1000G_AC=1956;p3_1000G_AF=0.390575;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=18539;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202304868;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1971,2435;ESP6500_AA_AGE=556.3+/-379.5;ESP6500_AA_GTC=462,1047,694;ESP6500_CDS_SIZES=NM_014176.3:594;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=124;ESP6500_EA_AC=4378,4222;ESP6500_EA_AGE=584.2+/-391.7;ESP6500_EA_GTC=1088,2202,1010;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014176.3:coding-synonymous;ESP6500_GL=UBE2T;ESP6500_GRCh38_POSITION=1:202335740;ESP6500_GTC=1550,3249,1704;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014176.3:c.15A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014176.3:p.(S5);ESP6500_MAF=49.093,44.7345,48.8159;ESP6500_TAC=6349,6657	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1279,111,0
chr1	202416947	rs2843413	T	C	741.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2843413;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PPP1R12B|PPP1R12B|transcript|NM_002481.3|protein_coding|2/23|c.422+30T>C||||||,C|intron_variant|MODIFIER|PPP1R12B|PPP1R12B|transcript|NM_001167857.1|protein_coding|2/9|c.422+30T>C||||||,C|intron_variant|MODIFIER|PPP1R12B|PPP1R12B|transcript|NM_001167858.1|protein_coding|2/8|c.422+30T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4855;p3_1000G_AF=0.969449;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=18840;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202386075;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4032,374;ESP6500_AA_AGE=189.5+/-215.6;ESP6500_AA_GTC=1841,350,12;ESP6500_CDS_SIZES=NM_002481.3:2949,NM_001167858.1:1161,NM_001167857.1:1548;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=105;ESP6500_EA_AC=8552,48;ESP6500_EA_AGE=31.7+/-84.0;ESP6500_EA_GTC=4252,48,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002481.3:intron,NM_001167858.1:intron,NM_001167857.1:intron;ESP6500_GL=PPP1R12B;ESP6500_GRCh38_POSITION=1:202416947;ESP6500_GTC=6093,398,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002481.3:c.422+30T>C,NM_001167858.1:c.422+30T>C,NM_001167857.1:c.422+30T>C;ESP6500_MAF=0.5581,8.4884,3.2447;ESP6500_TAC=12584,422	GT:AD:DP:GQ:PL	1/1:0,23:23:69:770,69,0
chr1	202427174	rs569635559	G	A	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.556;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.851;MLEAC=1;MLEAF=0.5;MQ=58.7;MQRankSum=-0.204;QD=14.28;ReadPosRankSum=-0.346;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|missense_variant|MODERATE|PPP1R12B|PPP1R12B|transcript|NM_002481.3|protein_coding|5/24|c.836G>A|p.Arg279Gln|986/11108|836/2949|279/982||,A|missense_variant|MODERATE|PPP1R12B|PPP1R12B|transcript|NM_001167857.1|protein_coding|5/10|c.836G>A|p.Arg279Gln|986/1826|836/1548|279/515||,A|missense_variant|MODERATE|PPP1R12B|PPP1R12B|transcript|NM_001167858.1|protein_coding|5/9|c.836G>A|p.Arg279Gln|986/1713|836/1161|279/386||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19130;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202396302;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,14:24:99:371,0,307
chr1	202596820	rs504261	G	A	1572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs504261;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|SYT2|SYT2|transcript|NM_001136504.1|protein_coding|9/9|c.1197C>T|p.Ile399Ile|1390/7613|1197/1260|399/419||,A|synonymous_variant|LOW|SYT2|SYT2|transcript|NM_177402.4|protein_coding|9/9|c.1197C>T|p.Ile399Ile|1380/7603|1197/1260|399/419||;p3_1000G_AA=G|||;p3_1000G_AC=1542;p3_1000G_AF=0.307907;p3_1000G_AFR_AF=0.3033;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=18163;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.3509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202565948;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1381,3025;ESP6500_AA_AGE=456.9+/-351.5;ESP6500_AA_GTC=215,951,1037;ESP6500_CDS_SIZES=NM_177402.4:1260,NM_001136504.1:1260;ESP6500_CG=-3.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=64;ESP6500_EA_AC=3318,5282;ESP6500_EA_AGE=495.3+/-374.0;ESP6500_EA_GTC=623,2072,1605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_177402.4:coding-synonymous,NM_001136504.1:coding-synonymous;ESP6500_GL=SYT2;ESP6500_GRCh38_POSITION=1:202596820;ESP6500_GTC=838,3023,2642;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_177402.4:c.1197C>T,NM_001136504.1:c.1197C>T;ESP6500_HGVS_PROTEIN_VAR=NM_177402.4:p.(I399),NM_001136504.1:p.(I399);ESP6500_MAF=38.5814,31.3436,36.1295;ESP6500_TAC=4699,8307	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,52:52:99:1|1:202596816_G_T:1601,155,0
chr1	202730777	.	A	C	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.14;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=5.902;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=1.38;SOR=2.712;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|26/27|c.4284+132T>G||||||,C|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|25/26|c.4176+132T>G||||||	GT:AD:DP:GQ:PL	0/1:15,8:23:99:257,0,379
chr1	202733925	rs4310498	G	A	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.347;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.6;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4310498;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|23/27|c.3532-39C>T||||||,A|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|22/26|c.3424-39C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3559;p3_1000G_AF=0.710663;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=20039;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202703053;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2201,2191;ESP6500_AA_GTC=542,1117,537;ESP6500_CDS_SIZES=NM_006618.3:4635;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=59;ESP6500_EA_AC=7325,1221;ESP6500_EA_GTC=3148,1029,96;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006618.3:intron;ESP6500_GL=KDM5B;ESP6500_GRCh38_POSITION=1:202733925;ESP6500_GTC=3690,2146,633;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006618.3:c.3424-39C>T;ESP6500_MAF=14.2874,49.8862,26.3719;ESP6500_TAC=9526,3412	GT:AD:DP:GQ:PL	0/1:5,9:14:99:226,0,129
chr1	202736327	rs1141109	G	C	808.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.237;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.057;SOR=0.594;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1141109;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|22/28|c.3258C>G|p.Pro1086Pro|4423/9759|3258/4743|1086/1580||,C|synonymous_variant|LOW|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|21/27|c.3150C>G|p.Pro1050Pro|4315/9651|3150/4635|1050/1544||;p3_1000G_AA=C|||;p3_1000G_AC=3203;p3_1000G_AF=0.639577;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=20197;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.7714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202705455;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6452;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1659,2747;ESP6500_AA_AGE=658.0+/-400.3;ESP6500_AA_GTC=320,1019,864;ESP6500_CDS_SIZES=NM_006618.3:4635;ESP6500_CG=-11.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=102;ESP6500_EA_AC=6686,1914;ESP6500_EA_AGE=338.7+/-322.9;ESP6500_EA_GTC=2615,1456,229;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006618.3:coding-synonymous;ESP6500_GL=KDM5B;ESP6500_GRCh38_POSITION=1:202736327;ESP6500_GTC=2935,2475,1093;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_006618.3:c.3150C>G;ESP6500_HGVS_PROTEIN_VAR=NM_006618.3:p.(P1050);ESP6500_MAF=22.2558,37.6532,35.8373;ESP6500_TAC=8345,4661	GT:AD:DP:GQ:PL	0/1:19,34:53:99:837,0,438
chr1	202746116	rs3216061;~rs3216061	G	GA	339.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.482;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=-1.476;SOR=0.489;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3216061;dbSNPBuildID=106;ANN=GA|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|16/27|c.2306+25dupT||||||,GA|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|15/26|c.2198+25dupT||||||;p3_1000G_AA=AAAAAAAAA|AAAAAAAA|AAAAAAAAA|deletion;p3_1000G_AC=3198;p3_1000G_AF=0.638578;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=22668;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.7714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202715244;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=INDEL;ESP6500_AA_AC=1611,1,2654;ESP6500_AA_GTC=310,0,991,0,1,831;ESP6500_CDS_SIZES=NM_006618.3:4635,NM_006618.3:4635;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=62;ESP6500_EA_AC=6415,1,1838;ESP6500_EA_GTC=2511,1,1392,0,0,223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006618.3:intron,NM_006618.3:intron;ESP6500_GL=KDM5B;ESP6500_GRCh38_POSITION=1:202746116;ESP6500_GTC=2821,1,2383,0,1,1054;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_006618.3:c.2198+25_2198+26insTT,NM_006618.3:c.2198+25_2198+26insT;ESP6500_MAF=22.2801,37.7872,35.8946;ESP6500_TAC=8026,2,4492	GT:AD:DP:GQ:PL	0/1:22,17:39:99:377,0,544
chr1	202746156	rs1141108	G	A	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.237;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=4.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=1.14;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1141108;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|16/28|c.2292C>T|p.Tyr764Tyr|3457/9759|2292/4743|764/1580||,A|synonymous_variant|LOW|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|15/27|c.2184C>T|p.Tyr728Tyr|3349/9651|2184/4635|728/1544||;p3_1000G_AA=A|||;p3_1000G_AC=3201;p3_1000G_AF=0.639177;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=20178;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.7714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202715284;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1658,2748;ESP6500_AA_AGE=657.2+/-400.2;ESP6500_AA_GTC=319,1020,864;ESP6500_CDS_SIZES=NM_006618.3:4635;ESP6500_CG=0.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=101;ESP6500_EA_AC=6687,1913;ESP6500_EA_AGE=338.1+/-322.6;ESP6500_EA_GTC=2613,1461,226;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006618.3:coding-synonymous;ESP6500_GL=KDM5B;ESP6500_GRCh38_POSITION=1:202746156;ESP6500_GTC=2932,2481,1090;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006618.3:c.2184C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006618.3:p.(Y728);ESP6500_MAF=22.2442,37.6305,35.8373;ESP6500_TAC=8345,4661	GT:AD:DP:GQ:PL	0/1:26,18:44:99:412,0,837
chr1	202746409	.	GAAA	G	26.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.282;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-1.383;SOR=0.223;DEL;HET;VARTYPE=DEL;ANN=G|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|15/27|c.2125-89_2125-87delTTT||||||,G|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|14/26|c.2017-89_2017-87delTTT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,2:9:64:0|1:202746409_GAAA_G:64,0,259
chr1	202748900	rs1892163	A	G	471.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.699;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1892163;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|15/27|c.2124+45T>C||||||,G|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|14/26|c.2016+45T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2606;p3_1000G_AF=0.520367;p3_1000G_AFR_AF=0.236;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=20083;p3_1000G_EAS_AF=0.5208;p3_1000G_EUR_AF=0.7425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202718028;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1364,3038;ESP6500_AA_GTC=220,924,1057;ESP6500_CDS_SIZES=NM_006618.3:4635;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=41;ESP6500_EA_AC=6422,2178;ESP6500_EA_GTC=2424,1574,302;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006618.3:intron;ESP6500_GL=KDM5B;ESP6500_GRCh38_POSITION=1:202748900;ESP6500_GTC=2644,2498,1359;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006618.3:c.2016+45T>C;ESP6500_MAF=25.3256,30.9859,40.1169;ESP6500_TAC=7786,5216	GT:AD:DP:GQ:PL	0/1:20,17:37:99:500,0,646
chr1	202749074	rs1892164	G	A	1230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.364;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.564;SOR=0.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1892164;dbSNPBuildID=92;ANN=A|structural_interaction_variant|HIGH|KDM5B|KDM5B|interaction|5A1F:A_629-A_654:NM_006618.4|protein_coding|14/27|c.1887C>T||||||,A|synonymous_variant|LOW|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|15/28|c.1995C>T|p.His665His|3160/9759|1995/4743|665/1580||,A|synonymous_variant|LOW|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|14/27|c.1887C>T|p.His629His|3052/9651|1887/4635|629/1544||,A|sequence_feature|LOW|KDM5B|KDM5B|helix:combinatorial_evidence_used_in_manual_assertion|NM_006618.4|protein_coding|14/27|c.1887C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2605;p3_1000G_AF=0.520168;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=20534;p3_1000G_EAS_AF=0.5208;p3_1000G_EUR_AF=0.7425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202718202;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1361,3045;ESP6500_AA_AGE=451.6+/-349.7;ESP6500_AA_GTC=217,927,1059;ESP6500_CDS_SIZES=NM_006618.3:4635;ESP6500_CG=-8.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=110;ESP6500_EA_AC=6422,2178;ESP6500_EA_AGE=712.6+/-405.9;ESP6500_EA_GTC=2414,1594,292;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006618.3:coding-synonymous;ESP6500_GL=KDM5B;ESP6500_GRCh38_POSITION=1:202749074;ESP6500_GTC=2631,2521,1351;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006618.3:c.1887C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006618.3:p.(H629);ESP6500_MAF=25.3256,30.8897,40.1584;ESP6500_TAC=7783,5223	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1259,0,1485
chr1	202753149	rs4950742	G	A	48.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4950742;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|12/27|c.1647-82C>T||||||,A|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|11/26|c.1539-82C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2605;p3_1000G_AF=0.520168;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=20936;p3_1000G_EAS_AF=0.5208;p3_1000G_EUR_AF=0.7425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202722277;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:76,6,0
chr1	202762858	rs140328663;~rs67462020	C	CCTCAA	178.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.455;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.926;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.42;ReadPosRankSum=-0.155;SOR=1.321;INS;HET;VARTYPE=INS;dbSNP138_ID=rs140328663;dbSNPBuildID=134;ANN=CCTCAA|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|7/27|c.917-51_917-50insTTGAG||||||,CCTCAA|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|6/26|c.809-51_809-50insTTGAG||||||;p3_1000G_AC=3124;p3_1000G_AF=0.623802;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=20261;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.8022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202731986;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=INDEL;ESP6500_AA_AC=2226,2040;ESP6500_AA_GTC=588,1050,495;ESP6500_CDS_SIZES=NM_006618.3:4635;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=97;ESP6500_EA_AC=6748,1502;ESP6500_EA_GTC=2798,1152,175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006618.3:intron;ESP6500_GL=KDM5B;ESP6500_GRCh38_POSITION=1:202762858;ESP6500_GTC=3386,2202,670;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006618.3:c.809-51_809-50insTTGAG;ESP6500_MAF=18.2061,47.82,28.2998;ESP6500_TAC=8974,3542	GT:AD:DP:GQ:PL	0/1:26,7:33:99:216,0,1721
chr1	202764110	rs3196669	C	T	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.56;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.282;SOR=0.917;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3196669;dbSNPBuildID=105;ANN=T|synonymous_variant|LOW|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|7/28|c.855G>A|p.Thr285Thr|2020/9759|855/4743|285/1580||,T|synonymous_variant|LOW|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|6/27|c.747G>A|p.Thr249Thr|1912/9651|747/4635|249/1544||;p3_1000G_AA=T|||;p3_1000G_AC=3182;p3_1000G_AF=0.635383;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=16383;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.7714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202733238;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1660,2746;ESP6500_AA_AGE=657.7+/-400.3;ESP6500_AA_GTC=320,1020,863;ESP6500_CDS_SIZES=NM_006618.3:4635;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=100;ESP6500_EA_AC=6691,1909;ESP6500_EA_AGE=338.1+/-322.6;ESP6500_EA_GTC=2616,1459,225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006618.3:coding-synonymous;ESP6500_GL=KDM5B;ESP6500_GRCh38_POSITION=1:202764110;ESP6500_GTC=2936,2479,1088;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006618.3:c.747G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006618.3:p.(T249);ESP6500_MAF=22.1977,37.6759,35.7912;ESP6500_TAC=8351,4655	GT:AD:DP:GQ:PL	0/1:13,10:23:99:253,0,265
chr1	202766506	rs764735197	TA	T	97.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.079;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=-0.239;SOR=0.836;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|splice_region_variant&intron_variant|LOW|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|5/27|c.712-3delT||||||,T|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|5/26|c.711+419delT||||||	GT:AD:DP:GQ:PL	0/1:22,9:31:99:135,0,510
chr1	202766623	rs12140729	T	C	500.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.574;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12140729;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|5/27|c.712-119A>G||||||,C|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|5/26|c.711+303A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2588;p3_1000G_AF=0.516773;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=20290;p3_1000G_EAS_AF=0.5069;p3_1000G_EUR_AF=0.7435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202735751;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,20:38:99:529,0,424
chr1	202774506	rs12410981	G	T	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.414;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12410981;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|3/27|c.405+107C>A||||||,T|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|3/26|c.405+107C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=20494;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202743634;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:96:153,0,96
chr1	202776301	rs4950946	A	C	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4950946;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|2/27|c.282+716T>G||||||,C|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|2/26|c.282+716T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2539;p3_1000G_AF=0.506989;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=15121;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.7435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202745429;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:67:67,0,111
chr1	202776916	rs371225070	G	A	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.05;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.21;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371225070;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_001314042.1|protein_coding|2/27|c.282+101C>T||||||,A|intron_variant|MODIFIER|KDM5B|KDM5B|transcript|NM_006618.4|protein_coding|2/26|c.282+101C>T||||||	GT:AD:DP:GQ:PL	0/1:4,5:9:99:178,0,108
chr1	202965633	rs141825609	C	CT	26.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.204;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=0.411;SOR=3.258;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141825609;dbSNPBuildID=134;ANN=CT|intron_variant|MODIFIER|CYB5R1|CYB5R1|transcript|NM_016243.2|protein_coding|4/8|c.346-134dupA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,4:10:64:0|1:202965633_C_CT:64,0,102
chr1	202965637	rs12125832	C	T	469.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.55;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12125832;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CYB5R1|CYB5R1|transcript|NM_016243.2|protein_coding|4/8|c.346-137G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4119;p3_1000G_AF=0.822484;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=18337;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.8579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202934765;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:202965633_C_CT:498,42,0
chr1	203008537	rs3834027	G	GT	28.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.328;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.11;ReadPosRankSum=-1.368;SOR=0.446;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3834027;dbSNPBuildID=107;ANN=GT|upstream_gene_variant|MODIFIER|LOC100506747|LOC100506747|transcript|NR_036557.1|pseudogene||n.-1273dupA|||||1273|,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_138391.4|protein_coding|2/7|c.200-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322955.1|protein_coding|2/7|c.200-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322956.1|protein_coding|2/7|c.200-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322957.1|protein_coding|2/7|c.200-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322958.1|protein_coding|1/6|c.110-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322959.1|protein_coding|1/6|c.110-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136530.1|pseudogene|2/8|n.299-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136531.1|pseudogene|2/7|n.299-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136532.1|pseudogene|2/7|n.299-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136533.1|pseudogene|2/8|n.299-98dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136534.1|pseudogene|2/8|n.299-98dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,3:7:66:66,0,99
chr1	203008904	rs1418444	C	G	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.095;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1418444;dbSNPBuildID=88;ANN=G|upstream_gene_variant|MODIFIER|LOC100506747|LOC100506747|transcript|NR_036557.1|pseudogene||n.-1639G>C|||||1639|,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_138391.4|protein_coding|3/7|c.367+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322955.1|protein_coding|3/7|c.367+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322956.1|protein_coding|3/7|c.367+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322957.1|protein_coding|3/7|c.367+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322958.1|protein_coding|2/6|c.277+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322959.1|protein_coding|2/6|c.277+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136530.1|pseudogene|3/8|n.466+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136531.1|pseudogene|3/7|n.466+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136532.1|pseudogene|3/7|n.466+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136533.1|pseudogene|3/8|n.466+94C>G||||||,G|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136534.1|pseudogene|3/8|n.466+94C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2303;p3_1000G_AF=0.459864;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=18277;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202978032;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:129,0,189
chr1	203018642	rs782788	T	C	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.81;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.967;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs782788;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_138391.4|protein_coding|6/7|c.789+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322955.1|protein_coding|6/7|c.786+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322956.1|protein_coding|6/7|c.786+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322957.1|protein_coding|6/7|c.789+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322958.1|protein_coding|5/6|c.699+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322959.1|protein_coding|5/6|c.696+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136530.1|pseudogene|7/8|n.1052+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136531.1|pseudogene|6/7|n.865+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136532.1|pseudogene|6/7|n.868+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136533.1|pseudogene|7/8|n.1049+81T>C||||||,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136534.1|pseudogene|7/8|n.1049+81T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1748;p3_1000G_AF=0.349042;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=19867;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202987770;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:221,0,205
chr1	203018668	rs782787	G	A	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs782787;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_138391.4|protein_coding|6/7|c.789+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322955.1|protein_coding|6/7|c.786+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322956.1|protein_coding|6/7|c.786+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322957.1|protein_coding|6/7|c.789+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322958.1|protein_coding|5/6|c.699+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322959.1|protein_coding|5/6|c.696+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136530.1|pseudogene|7/8|n.1052+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136531.1|pseudogene|6/7|n.865+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136532.1|pseudogene|6/7|n.868+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136533.1|pseudogene|7/8|n.1049+107G>A||||||,A|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136534.1|pseudogene|7/8|n.1049+107G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1668;p3_1000G_AF=0.333067;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=19252;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202987796;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:166,0,214
chr1	203020982	rs140916058;rs539813188;rs570021692	CTTT	C	319.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.772;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=2.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.64;ReadPosRankSum=-2.607;SOR=2.303;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs140916058;dbSNPBuildID=134,142;ANN=C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_138391.4|protein_coding|7/7|c.945+49_945+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322955.1|protein_coding|7/7|c.934+49_934+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322956.1|protein_coding|7/7|c.942+49_942+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322957.1|protein_coding|7/7|c.937+49_937+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322958.1|protein_coding|6/6|c.855+49_855+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NM_001322959.1|protein_coding|6/6|c.852+49_852+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136530.1|pseudogene|8/8|n.1208+49_1208+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136531.1|pseudogene|7/7|n.1021+49_1021+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136532.1|pseudogene|7/7|n.1024+49_1024+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136533.1|pseudogene|8/8|n.1205+49_1205+51delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM183A|TMEM183A|transcript|NR_136534.1|pseudogene|8/8|n.1205+49_1205+51delTTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1604;p3_1000G_AF=0.320288;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=19737;p3_1000G_EAS_AF=0.1389;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202990110;p3_1000G_GRCH37_REF=CTTT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,8:12:99:357,0,204
chr1	203039046	rs61821060	G	C	1021.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61821060;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|2/30|c.38G>C|p.Arg13Pro|546/6478|38/3624|13/1207||,C|missense_variant|MODERATE|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|2/29|c.38G>C|p.Arg13Pro|546/6451|38/3597|13/1198||;p3_1000G_AA=c|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16057;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203008174;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1050,102,0
chr1	203039158	rs10920553	C	G	756.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.501;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.179;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=-0.434;SOR=0.482;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10920553;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|2/30|c.150C>G|p.Thr50Thr|658/6478|150/3624|50/1207||,G|synonymous_variant|LOW|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|2/29|c.150C>G|p.Thr50Thr|658/6451|150/3597|50/1198||;p3_1000G_AA=C|||;p3_1000G_AC=2524;p3_1000G_AF=0.503994;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=15227;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.6163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203008286;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=588,1164;ESP6500_AA_GTC=101,386,389;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=15;ESP6500_EA_AC=2379,1601;ESP6500_EA_GTC=736,907,347;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=1:203039158;ESP6500_GTC=837,1293,736;ESP6500_GTS=GG,GC,CC;ESP6500_MAF=40.2261,33.5616,48.238;ESP6500_TAC=2967,2765	GT:AD:DP:GQ:PL	0/1:18,30:48:99:785,0,427
chr1	203043577	rs7547566	C	G	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.268;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.998;SOR=0.055;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7547566;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|3/29|c.336+79C>G||||||,G|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|3/28|c.336+79C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1803;p3_1000G_AF=0.360024;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=18443;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203012705;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:148,0,227
chr1	203049062	rs6696772	G	C	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.654;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.852;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=-1.654;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6696772;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|12/29|c.1419+82G>C||||||,C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|12/28|c.1419+82G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1261;p3_1000G_AF=0.251797;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=17215;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203018190;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,10:28:99:234,0,579
chr1	203053724	rs77851622	C	T	673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.879;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=1.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=0.288;SOR=0.498;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77851622;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|14/29|c.1621-29C>T||||||,T|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|14/28|c.1621-29C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=36;p3_1000G_AF=0.0071885;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16938;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203022852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,3606;ESP6500_AA_GTC=0,0,1803;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=18;ESP6500_EA_AC=2,7536;ESP6500_EA_GTC=0,2,3767;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:intron;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203053724;ESP6500_GTC=0,2,5570;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.103-29C>T;ESP6500_MAF=0.0265,0.0,0.0179;ESP6500_TAC=2,11142	GT:AD:DP:GQ:PL	0/1:48,32:80:99:702,0,1233
chr1	203053994	rs2291691	A	C	1108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-1.216;SOR=0.658;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291691;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|15/29|c.1829+33A>C||||||,C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|15/28|c.1829+33A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1103;p3_1000G_AF=0.220248;p3_1000G_AFR_AF=0.2905;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=20158;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203023122;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=945,2993;ESP6500_AA_GTC=125,695,1149;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=2.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=6;ESP6500_EA_AC=1863,6423;ESP6500_EA_GTC=241,1381,2521;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:intron;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203053994;ESP6500_GTC=366,2076,3670;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.311+33A>C;ESP6500_MAF=22.4837,23.997,22.9712;ESP6500_TAC=2808,9416	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1137,0,1234
chr1	203054112	rs10635298	G	GGC	1070.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.278;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.19;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=-0.073;SOR=1.071;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10635298;dbSNPBuildID=130;ANN=GGC|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|15/29|c.1829+151_1829+152insGC||||||,GGC|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|15/28|c.1829+151_1829+152insGC||||||;p3_1000G_AC=1102;p3_1000G_AF=0.220048;p3_1000G_AFR_AF=0.2905;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=21107;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203023240;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:20,28:48:99:1108,0,865
chr1	203056081	rs11590950	G	C	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.002;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11590950;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|16/29|c.2071-39G>C||||||,C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|16/28|c.2071-39G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=909;p3_1000G_AF=0.18151;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=16765;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203025209;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA_AC=621,3509;ESP6500_AA_GTC=47,527,1491;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=60;ESP6500_EA_AC=1774,6658;ESP6500_EA_GTC=190,1394,2632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:intron;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203056081;ESP6500_GTC=237,1921,4123;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.553-39G>C;ESP6500_MAF=21.0389,15.0363,19.0654;ESP6500_TAC=2395,10167	GT:AD:DP:GQ:PL	0/1:11,6:17:99:164,0,344
chr1	203059243	rs61732315	G	T	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.093;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.533;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61732315;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|20/30|c.2473G>T|p.Ala825Ser|2981/6478|2473/3624|825/1207||,T|missense_variant|MODERATE|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|20/29|c.2473G>T|p.Ala825Ser|2981/6451|2473/3597|825/1198||;p3_1000G_AA=G|||;p3_1000G_AC=610;p3_1000G_AF=0.121805;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=18586;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203028371;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=150,3658;ESP6500_AA_GTC=5,140,1759;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=19;ESP6500_EA_AC=1379,6841;ESP6500_EA_GTC=122,1135,2853;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015053.1:missense;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203059243;ESP6500_GS=99;ESP6500_GTC=127,1275,4612;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.955G>T;ESP6500_HGVS_PROTEIN_VAR=NM_015053.1:p.(A319S);ESP6500_MAF=16.7762,3.9391,12.712;ESP6500_PH=possibly-damaging:0.905;ESP6500_TAC=1529,10499	GT:AD:DP:GQ:PL	0/1:20,15:35:99:360,0,500
chr1	203059889	rs2270546	A	C	394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.453;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.926;SOR=1.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270546;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|21/29|c.2583+38A>C||||||,C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|21/28|c.2583+38A>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=1402;p3_1000G_AF=0.279952;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=18529;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203029017;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP;ESP6500_AA_AC=973,3003;ESP6500_AA_GTC=112,749,1127;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=-3.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=2782,5540;ESP6500_EA_GTC=477,1828,1856;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:intron;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203059889;ESP6500_GTC=589,2577,2983;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.1065+38A>C;ESP6500_MAF=33.4295,24.4718,30.5334;ESP6500_TAC=3755,8543	GT:AD:DP:GQ:PL	0/1:16,15:31:99:423,0,413
chr1	203061557	rs2270543	T	C	830.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270543;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|23/29|c.2848-95T>C||||||,C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|23/28|c.2847+525T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2468;p3_1000G_AF=0.492812;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=21126;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.5586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203030685;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:859,87,0
chr1	203063794	rs1416262;rs62816261	C	T	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.453;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.266;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.526;SOR=1.035;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369017852,rs1416262;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|24/29|c.2875-34C>T||||||,T|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|23/28|c.2848-34C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1451;p3_1000G_AF=0.289736;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=16744;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.3807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203032922;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3538;p3_1000G_VT=SNP;ESP6500_AA_AC=1197,3165;ESP6500_AA_GTC=198,801,1182;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=48;ESP6500_EA_AC=3237,5355;ESP6500_EA_GTC=614,2009,1673;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:intron;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203063794;ESP6500_GTC=812,2810,2855;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.1357-34C>T;ESP6500_MAF=37.6746,27.4415,34.2288;ESP6500_TAC=4434,8520	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,17:40:99:0|1:203063794_C_T:402,0,592
chr1	203067629	rs2275354	T	C	617.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275354;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|25/29|c.3051-66T>C||||||,C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|24/28|c.3024-66T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2432;p3_1000G_AF=0.485623;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=18814;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.5606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203036757;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:646,57,0
chr1	203068346	rs3831931	CA	C	253.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.55;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.07;ReadPosRankSum=-1.184;SOR=0.293;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3831931;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|26/29|c.3149-106delA||||||,C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|25/28|c.3122-106delA||||||;p3_1000G_AA=A|A|-|deletion;p3_1000G_AC=665;p3_1000G_AF=0.132788;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=19129;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203037474;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,8:11:88:291,0,88
chr1	203071545	rs9803710	A	G	346.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9803710;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|27/29|c.3325-147A>G||||||,G|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|26/28|c.3298-147A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20788;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203040673;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:375,27,0
chr1	203071612	rs11583155	T	C	1068.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11583155;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|27/29|c.3325-80T>C||||||,C|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|26/28|c.3298-80T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2844;p3_1000G_AF=0.567891;p3_1000G_AFR_AF=0.593;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=19212;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.6223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203040740;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1097,93,0
chr1	203071688	rs2270540	G	C	2285.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=1.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270540;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|27/29|c.3325-4G>C||||||,C|splice_region_variant&intron_variant|LOW|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|26/28|c.3298-4G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2750;p3_1000G_AF=0.549121;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=19846;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203040816;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2231,1779;ESP6500_AA_GTC=640,951,414;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=74;ESP6500_EA_AC=5226,3116;ESP6500_EA_GTC=1649,1928,594;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:intron;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203071688;ESP6500_GTC=2289,2879,1008;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.1807-4G>C;ESP6500_MAF=37.3532,44.3641,39.6292;ESP6500_TAC=7457,4895	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2314,204,0
chr1	203071794	rs2270541	G	T	569.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.487;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-2.276;SOR=0.637;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270541;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|28/29|c.3393+34G>T||||||,T|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|27/28|c.3366+34G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1717;p3_1000G_AF=0.342851;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=20262;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.333;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203040922;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1680,2282;ESP6500_AA_GTC=354,972,655;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=2790,5520;ESP6500_EA_GTC=472,1846,1837;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:intron;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203071794;ESP6500_GTC=826,2818,2492;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.1875+34G>T;ESP6500_MAF=33.574,42.4028,36.4244;ESP6500_TAC=4470,7802	GT:AD:DP:GQ:PL	0/1:39,27:66:99:598,0,991
chr1	203076285	rs11578206	G	T	1216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=126;ExcessHet=3.0103;FS=8.571;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=0.115;SOR=1.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11578206;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|29/29|c.3575-56G>T||||||,T|intron_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|28/28|c.3548-56G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1710;p3_1000G_AF=0.341454;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=19021;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203045413;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=509,875;ESP6500_AA_GTC=96,317,279;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=1137,2045;ESP6500_EA_GTC=205,727,659;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:intron;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203076285;ESP6500_GTC=301,1044,938;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.2057-56G>T;ESP6500_MAF=35.7322,36.7775,36.0491;ESP6500_TAC=1646,2920	GT:AD:DP:GQ:PL	0/1:76,50:126:99:1245,0,1980
chr1	203076455	rs6682652	T	C	1315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.355;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=8.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-0.916;SOR=0.213;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6682652;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304331.1|protein_coding|30/30|c.*65T>C|||||65|,C|3_prime_UTR_variant|MODIFIER|PPFIA4|PPFIA4|transcript|NM_001304332.1|protein_coding|29/29|c.*65T>C|||||65|;p3_1000G_AA=C|||;p3_1000G_AC=1839;p3_1000G_AF=0.367212;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=18001;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203045583;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=622,762;ESP6500_AA_GTC=139,344,209;ESP6500_CDS_SIZES=NM_015053.1:2106;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=57;ESP6500_EA_AC=1140,2042;ESP6500_EA_GTC=206,728,657;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015053.1:utr-3;ESP6500_GL=PPFIA4;ESP6500_GRCh38_POSITION=1:203076455;ESP6500_GTC=345,1072,866;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015053.1:c.*65T>C;ESP6500_MAF=35.8265,44.9422,38.5896;ESP6500_TAC=1762,2804	GT:AD:DP:GQ:PL	0/1:35,45:80:99:1344,0,1045
chr1	203084640	rs903356	T	C	644.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.94;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs903356;dbSNPBuildID=86;ANN=C|splice_region_variant&intron_variant|LOW|MYOG|MYOG|transcript|NM_002479.5|protein_coding|2/2|c.553+7A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4788;p3_1000G_AF=0.95607;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=19550;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.9742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203053768;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4364,42;ESP6500_AA_AGE=44.6+/-78.6;ESP6500_AA_GTC=2161,42,0;ESP6500_CDS_SIZES=NM_002479.4:675;ESP6500_CG=2.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=55;ESP6500_EA_AC=8292,308;ESP6500_EA_AGE=107.0+/-167.8;ESP6500_EA_GTC=3999,294,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002479.4:intron;ESP6500_GL=MYOG;ESP6500_GRCh38_POSITION=1:203084640;ESP6500_GTC=6160,336,7;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002479.4:c.553+7A>G;ESP6500_MAF=3.5814,0.9532,2.6911;ESP6500_TAC=12656,350	GT:AD:DP:GQ:PL	1/1:0,19:19:57:673,57,0
chr1	203129147	rs2228079	T	G	2883.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=1.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228079;dbSNPBuildID=105;ANN=G|synonymous_variant|LOW|ADORA1|ADORA1|transcript|NM_000674.2|protein_coding|3/4|c.306T>G|p.Ala102Ala|739/2919|306/981|102/326||,G|synonymous_variant|LOW|ADORA1|ADORA1|transcript|NM_001048230.1|protein_coding|2/3|c.306T>G|p.Ala102Ala|584/2764|306/981|102/326||;p3_1000G_AA=C|||;p3_1000G_AC=1170;p3_1000G_AF=0.233626;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=19241;p3_1000G_EAS_AF=0.1448;p3_1000G_EUR_AF=0.338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203098275;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=556,3850;ESP6500_AA_GTC=36,484,1683;ESP6500_CDS_SIZES=NM_001048230.1:981,NM_000674.2:981;ESP6500_CG=-5.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=120;ESP6500_EA_AC=2871,5729;ESP6500_EA_GTC=487,1897,1916;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001048230.1:coding-synonymous,NM_000674.2:coding-synonymous;ESP6500_GL=ADORA1;ESP6500_GRCh38_POSITION=1:203129147;ESP6500_GTC=523,2381,3599;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001048230.1:c.306T>G,NM_000674.2:c.306T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001048230.1:p.(A102),NM_000674.2:p.(A102);ESP6500_MAF=33.3837,12.6192,26.3494;ESP6500_TAC=3427,9579	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2912,264,0
chr1	203168656	rs35823777;rs397705228;~rs34556384	A	ACT	2347.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.04;SOR=1.524;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35823777;dbSNPBuildID=132,138;ANN=ACT|3_prime_UTR_variant|MODIFIER|MYBPH|MYBPH|transcript|NM_004997.2|protein_coding|10/11|c.*1_*2dupAG|||||2|,ACT|downstream_gene_variant|MODIFIER|ADORA1|ADORA1|transcript|NM_000674.2|protein_coding||c.*2756_*2757insCT|||||1252|,ACT|downstream_gene_variant|MODIFIER|ADORA1|ADORA1|transcript|NM_001048230.1|protein_coding||c.*2756_*2757insCT|||||1252|;p3_1000G_AC=3627;p3_1000G_AF=0.724241;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=20254;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.8857;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203137784;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=INDEL;ESP6500_AA_AC=3306,2,920;ESP6500_AA_GTC=1315,2,674,0,0,123;ESP6500_CDS_SIZES=NM_004997.2:1434,NM_004997.2:1434;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=56;ESP6500_EA_AC=7092,1,1059;ESP6500_EA_GTC=3119,1,853,0,0,103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004997.2:utr-3,NM_004997.2:utr-3;ESP6500_GL=MYBPH;ESP6500_GRCh38_POSITION=1:203168656;ESP6500_GTC=4434,3,1527,0,0,226;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_004997.2:c.*2_*3insGG,NM_004997.2:c.*2_*3insAG;ESP6500_MAF=13.0029,21.807,16.0097;ESP6500_TAC=10398,3,1979	GT:AD:DP:GQ:PL	1/1:0,53:53:99:2385,160,0
chr1	203179505	rs4950927	A	G	1986.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=1.01;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4950927;dbSNPBuildID=111;ANN=G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJV:A_300-A_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJV:B_300-B_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJV:C_300-C_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJV:D_300-D_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJW:A_300-A_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJW:B_300-B_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJX:A_300-A_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJX:B_300-B_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJX:C_300-C_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1HJX:D_300-D_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWR:A_300-A_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWR:B_300-B_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWR:C_300-C_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWR:D_300-D_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWS:A_300-A_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWS:B_300-B_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWS:C_300-C_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWS:D_300-D_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWT:A_300-A_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWT:B_300-B_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWT:C_300-C_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWT:D_300-D_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWU:A_300-A_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWU:B_300-B_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWU:C_300-C_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|structural_interaction_variant|HIGH|CHI3L1|CHI3L1|interaction|1NWU:D_300-D_364:NM_001276.2|protein_coding|10/10|c.1092T>C||||||,G|synonymous_variant|LOW|CHI3L1|CHI3L1|transcript|NM_001276.2|protein_coding|10/10|c.1092T>C|p.Cys364Cys|1263/1837|1092/1152|364/383||,G|upstream_gene_variant|MODIFIER|MYBPH|MYBPH|transcript|NM_004997.2|protein_coding||c.-3750T>C|||||3691|;p3_1000G_AA=G|||;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20397;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203148633;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4405,1;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=2202,1,0;ESP6500_CDS_SIZES=NM_001276.2:1152;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=54;ESP6500_EA_AC=8577,23;ESP6500_EA_AGE=16.6+/-54.9;ESP6500_EA_GTC=4277,23,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001276.2:coding-synonymous;ESP6500_GL=CHI3L1;ESP6500_GRCh38_POSITION=1:203179505;ESP6500_GTC=6479,24,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001276.2:c.1092T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001276.2:p.(C364);ESP6500_MAF=0.2674,0.0227,0.1845;ESP6500_TAC=12982,24	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2015,189,0
chr1	203348034	rs7543148	C	T	3394.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=1.098;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7543148;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|FMOD|FMOD|transcript|NM_002023.4|protein_coding|2/3|c.237G>A|p.Glu79Glu|641/3257|237/1131|79/376||,T|intron_variant|MODIFIER|FMOD|FMOD|transcript|NR_103757.1|pseudogene|1/1|n.397+2999G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3097;p3_1000G_AF=0.618411;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=19125;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.8608;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203317162;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1497,2909;ESP6500_AA_AGE=477.9+/-358.1;ESP6500_AA_GTC=269,959,975;ESP6500_CDS_SIZES=NM_002023.3:1131;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=7199,1401;ESP6500_EA_AGE=752.3+/-407.4;ESP6500_EA_GTC=3013,1173,114;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002023.3:coding-synonymous;ESP6500_GL=FMOD;ESP6500_GRCh38_POSITION=1:203348034;ESP6500_GTC=3282,2132,1089;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002023.3:c.237G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002023.3:p.(E79);ESP6500_MAF=16.2907,33.9764,33.1386;ESP6500_TAC=8696,4310	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3423,326,0
chr1	203483685	rs2233727	G	A	608.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.221;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.502;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.068;SOR=1.106;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2233727;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|PRELP|PRELP|transcript|NM_002725.3|protein_coding|2/3|c.501G>A|p.Ser167Ser|701/5819|501/1149|167/382||,A|synonymous_variant|LOW|PRELP|PRELP|transcript|NM_201348.1|protein_coding|2/3|c.501G>A|p.Ser167Ser|691/5809|501/1149|167/382||;p3_1000G_AA=G|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16236;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203452813;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_201348.1:1149,NM_002725.3:1149;ESP6500_CG=-2.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=75;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201348.1:coding-synonymous,NM_002725.3:coding-synonymous;ESP6500_GL=PRELP;ESP6500_GRCh38_POSITION=1:203483685;ESP6500_GTC=0,2,6501;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201348.1:c.501G>A,NM_002725.3:c.501G>A;ESP6500_HGVS_PROTEIN_VAR=NM_201348.1:p.(S167),NM_002725.3:p.(S167);ESP6500_MAF=0.0116,0.0227,0.0154;ESP6500_TAC=2,13004	GT:AD:DP:GQ:PL	0/1:39,25:64:99:637,0,1153
chr1	203683012	rs1541254	C	G	1141.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1541254;dbSNPBuildID=88;ANN=G|5_prime_UTR_variant|MODIFIER|ATP2B4|ATP2B4|transcript|NM_001684.4|protein_coding|2/21|c.-194C>G|||||194|,G|5_prime_UTR_variant|MODIFIER|ATP2B4|ATP2B4|transcript|NM_001001396.2|protein_coding|2/22|c.-194C>G|||||194|;p3_1000G_AA=C|||;p3_1000G_AC=4256;p3_1000G_AF=0.84984;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=21294;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203652140;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:203683012_C_G:1170,78,0
chr1	203683013	rs1541255	G	A	1141.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1541255;dbSNPBuildID=88;ANN=A|5_prime_UTR_variant|MODIFIER|ATP2B4|ATP2B4|transcript|NM_001684.4|protein_coding|2/21|c.-193G>A|||||193|,A|5_prime_UTR_variant|MODIFIER|ATP2B4|ATP2B4|transcript|NM_001001396.2|protein_coding|2/22|c.-193G>A|||||193|;p3_1000G_AA=A|||;p3_1000G_AC=4256;p3_1000G_AF=0.84984;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=21285;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203652141;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:203683012_C_G:1170,78,0
chr1	203683316	rs1419114	A	G	3974.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1419114;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|ATP2B4|ATP2B4|transcript|NM_001684.4|protein_coding|2/21|c.111A>G|p.Ser37Ser|1008/8742|111/3618|37/1205||,G|synonymous_variant|LOW|ATP2B4|ATP2B4|transcript|NM_001001396.2|protein_coding|2/22|c.111A>G|p.Ser37Ser|1008/8920|111/3513|37/1170||;p3_1000G_AA=G|||;p3_1000G_AC=4257;p3_1000G_AF=0.85004;p3_1000G_AFR_AF=0.6354;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=19278;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203652444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3061,1345;ESP6500_AA_AGE=448.8+/-348.8;ESP6500_AA_GTC=1067,927,209;ESP6500_CDS_SIZES=NM_001684.4:3618,NM_001001396.2:3513;ESP6500_CG=-11.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=155;ESP6500_EA_AC=7720,880;ESP6500_EA_AGE=198.6+/-242.9;ESP6500_EA_GTC=3467,786,47;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001684.4:coding-synonymous,NM_001001396.2:coding-synonymous;ESP6500_GL=ATP2B4;ESP6500_GRCh38_POSITION=1:203683316;ESP6500_GTC=4534,1713,256;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001684.4:c.111A>G,NM_001001396.2:c.111A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001684.4:p.(S37),NM_001001396.2:p.(S37);ESP6500_MAF=10.2326,30.5266,17.1075;ESP6500_TAC=10781,2225	GT:AD:DP:GQ:PL	1/1:0,124:124:99:4003,372,0
chr1	203698281	rs2228445	T	C	1644.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228445;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|ATP2B4|ATP2B4|transcript|NM_001684.4|protein_coding|3/21|c.318T>C|p.Leu106Leu|1215/8742|318/3618|106/1205||,C|synonymous_variant|LOW|ATP2B4|ATP2B4|transcript|NM_001001396.2|protein_coding|3/22|c.318T>C|p.Leu106Leu|1215/8920|318/3513|106/1170||;p3_1000G_AA=C|||;p3_1000G_AC=4306;p3_1000G_AF=0.859824;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=16276;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203667409;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3269,1137;ESP6500_AA_AGE=404.6+/-333.2;ESP6500_AA_GTC=1217,835,151;ESP6500_CDS_SIZES=NM_001684.4:3618,NM_001001396.2:3513;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=144;ESP6500_EA_AC=7719,881;ESP6500_EA_AGE=198.7+/-243.0;ESP6500_EA_GTC=3466,787,47;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001684.4:coding-synonymous,NM_001001396.2:coding-synonymous;ESP6500_GL=ATP2B4;ESP6500_GRCh38_POSITION=1:203698281;ESP6500_GTC=4683,1622,198;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001684.4:c.318T>C,NM_001001396.2:c.318T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001684.4:p.(L106),NM_001001396.2:p.(L106);ESP6500_MAF=10.2442,25.8057,15.5159;ESP6500_TAC=10988,2018	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1673,147,0
chr1	203771330	rs3820196	C	A	1001.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820196;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|LAX1|LAX1|transcript|NM_017773.3|protein_coding|2/4|c.200-37C>A||||||,A|intron_variant|MODIFIER|LAX1|LAX1|transcript|NM_001136190.1|protein_coding|2/4|c.152-37C>A||||||,A|intron_variant|MODIFIER|LAX1|LAX1|transcript|NM_001282878.1|protein_coding|2/4|c.-29-37C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1455;p3_1000G_AF=0.290535;p3_1000G_AFR_AF=0.2345;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=19719;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203740458;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=936,3470;ESP6500_AA_AGE=350.8+/-311.0;ESP6500_AA_GTC=129,678,1396;ESP6500_CDS_SIZES=NM_017773.3:1197,NM_001136190.1:1149;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=133;ESP6500_EA_AC=571,8029;ESP6500_EA_AGE=151.5+/-206.2;ESP6500_EA_GTC=24,523,3753;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017773.3:intron,NM_001136190.1:intron;ESP6500_GL=LAX1;ESP6500_GRCh38_POSITION=1:203771330;ESP6500_GTC=153,1201,5149;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_017773.3:c.200-37C>A,NM_001136190.1:c.152-37C>A;ESP6500_MAF=6.6395,21.2438,11.587;ESP6500_TAC=1507,11499	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:72:1|1:203771330_C_A:1030,72,0
chr1	203771334	rs3820195	G	A	952.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820195;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|LAX1|LAX1|transcript|NM_017773.3|protein_coding|2/4|c.200-33G>A||||||,A|intron_variant|MODIFIER|LAX1|LAX1|transcript|NM_001136190.1|protein_coding|2/4|c.152-33G>A||||||,A|intron_variant|MODIFIER|LAX1|LAX1|transcript|NM_001282878.1|protein_coding|2/4|c.-29-33G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1455;p3_1000G_AF=0.290535;p3_1000G_AFR_AF=0.2345;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=19918;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.0666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203740462;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=936,3470;ESP6500_AA_AGE=357.1+/-313.8;ESP6500_AA_GTC=129,678,1396;ESP6500_CDS_SIZES=NM_017773.3:1197,NM_001136190.1:1149;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=144;ESP6500_EA_AC=571,8029;ESP6500_EA_AGE=153.9+/-208.2;ESP6500_EA_GTC=24,523,3753;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017773.3:intron,NM_001136190.1:intron;ESP6500_GL=LAX1;ESP6500_GRCh38_POSITION=1:203771334;ESP6500_GTC=153,1201,5149;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017773.3:c.200-33G>A,NM_001136190.1:c.152-33G>A;ESP6500_MAF=6.6395,21.2438,11.587;ESP6500_TAC=1507,11499	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:203771330_C_A:981,66,0
chr1	203797836	rs3737972	A	G	882.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.131;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=-0.679;SOR=0.471;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737972;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|ZBED6|ZBED6|transcript|NM_001174108.2|protein_coding|1/1|c.314A>G|p.Asn105Ser|314/3550|314/2940|105/979||,G|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|2/19|c.-565+1235A>G||||||,G|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|2/19|c.-565+1340A>G||||||,G|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|2/19|c.-260+1340A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=675;p3_1000G_AF=0.134784;p3_1000G_AFR_AF=0.1604;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=20167;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.0189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203766964;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,31:51:99:911,0,462
chr1	203799200	rs7552670	T	C	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.91;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=1.045;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.6;ReadPosRankSum=-0.289;SOR=0.97;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7552670;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|ZBED6|ZBED6|transcript|NM_001174108.2|protein_coding|1/1|c.1678T>C|p.Phe560Leu|1678/3550|1678/2940|560/979||,C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|2/19|c.-564-2375T>C||||||,C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|2/19|c.-564-2375T>C||||||,C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|2/19|c.-259-2375T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=920;p3_1000G_AF=0.183706;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=21095;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203768328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:47,19:66:99:464,0,1324
chr1	203800404	rs7540041	G	A	347.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.619;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=6.576;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.18;SOR=0.094;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7540041;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|ZBED6|ZBED6|transcript|NM_001174108.2|protein_coding|1/1|c.2882G>A|p.Ser961Asn|2882/3550|2882/2940|961/979||,A|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|2/19|c.-564-1171G>A||||||,A|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|2/19|c.-564-1171G>A||||||,A|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|2/19|c.-259-1171G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=920;p3_1000G_AF=0.183706;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=18652;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203769532;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,16:32:99:376,0,483
chr1	203817024	rs3753589	A	C	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.211;MLEAC=1;MLEAF=0.5;MQ=54.76;MQRankSum=-1.913;QD=14.9;ReadPosRankSum=-0.293;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7555435;dbSNPBuildID=107;ANN=C|5_prime_UTR_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|5/20|c.-47A>C|||||47|,C|5_prime_UTR_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|5/20|c.-47A>C|||||47|,C|5_prime_UTR_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|5/20|c.-47A>C|||||47|;p3_1000G_AA=A|||;p3_1000G_AC=1200;p3_1000G_AF=0.239617;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs7555435;p3_1000G_DP=16214;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.1402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203786152;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,20:34:99:535,0,307
chr1	203818572	rs4951260	T	C	2209.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=1.163;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4951260;dbSNPBuildID=111;ANN=C|splice_region_variant&synonymous_variant|LOW|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|6/20|c.57T>C|p.Gly19Gly|1188/5293|57/2433|19/810||,C|splice_region_variant&synonymous_variant|LOW|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|6/20|c.57T>C|p.Gly19Gly|1083/5188|57/2433|19/810||,C|splice_region_variant&synonymous_variant|LOW|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|6/20|c.57T>C|p.Gly19Gly|759/4864|57/2433|19/810||;p3_1000G_AA=C|||;p3_1000G_AC=4902;p3_1000G_AF=0.978834;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18371;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203787700;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4097,309;ESP6500_AA_AGE=166.2+/-197.5;ESP6500_AA_GTC=1905,287,11;ESP6500_CDS_SIZES=NM_014827.4:2433;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=83;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=5.0+/-18.6;ESP6500_EA_GTC=4294,5,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014827.4:coding-synonymous;ESP6500_GL=ZC3H11A;ESP6500_GRCh38_POSITION=1:203818572;ESP6500_GTC=6199,292,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014827.4:c.57T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014827.4:p.(G19);ESP6500_MAF=0.0814,7.0132,2.4296;ESP6500_TAC=12690,316	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2238,209,0
chr1	203831607	rs2275325	G	C	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.524;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275325;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|10/19|c.701-54G>C||||||,C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|10/19|c.701-54G>C||||||,C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|10/19|c.701-54G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1370;p3_1000G_AF=0.273562;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=18112;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203800735;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:140,0,190
chr1	203833888	rs6694647	A	G	692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.12;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6694647;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|12/19|c.874+35A>G||||||,G|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|12/19|c.874+35A>G||||||,G|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|12/19|c.874+35A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4902;p3_1000G_AF=0.978834;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=15381;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203803016;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4099,307;ESP6500_AA_AGE=165.4+/-196.9;ESP6500_AA_GTC=1907,285,11;ESP6500_CDS_SIZES=NM_014827.4:2433;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=94;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=5.0+/-18.6;ESP6500_EA_GTC=4294,5,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014827.4:intron;ESP6500_GL=ZC3H11A;ESP6500_GRCh38_POSITION=1:203833888;ESP6500_GTC=6201,290,12;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014827.4:c.874+35A>G;ESP6500_MAF=0.0814,6.9678,2.4143;ESP6500_TAC=12692,314	GT:AD:DP:GQ:PL	1/1:0,23:23:68:721,68,0
chr1	203850312	rs10494847	A	C	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.09;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.319;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10494847;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|17/19|c.1940-203A>C||||||,C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|17/19|c.1940-203A>C||||||,C|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|17/19|c.1940-203A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=17586;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203819440;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:98:151,0,98
chr1	203852005	rs16830293	C	T	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.452;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=-1.03;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16830293;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|19/19|c.2175-136C>T||||||,T|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|19/19|c.2175-136C>T||||||,T|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|19/19|c.2175-136C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=701;p3_1000G_AF=0.139976;p3_1000G_AFR_AF=0.1104;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=13450;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203821133;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:79:79,0,182
chr1	203852072	rs7512877	G	A	898.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7512877;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319238.1|protein_coding|19/19|c.2175-69G>A||||||,A|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_001319239.1|protein_coding|19/19|c.2175-69G>A||||||,A|intron_variant|MODIFIER|ZC3H11A|ZC3H11A|transcript|NM_014827.5|protein_coding|19/19|c.2175-69G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4902;p3_1000G_AF=0.978834;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16792;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203821200;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:927,93,0
chr1	204112764	rs2250538	C	T	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.27;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0.736;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2250538;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SOX13|SOX13|transcript|NM_005686.2|protein_coding|1/13|c.-1-151C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1734;p3_1000G_AF=0.346246;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=19648;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204081892;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:99:110,0,268
chr1	204116481	rs7551756	A	G	986.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.03;SOR=1.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7551756;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SOX13|SOX13|transcript|NM_005686.2|protein_coding|4/13|c.419-26A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1981;p3_1000G_AF=0.395567;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=20912;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.3887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204085609;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1028,2822;ESP6500_AA_GTC=148,732,1045;ESP6500_CDS_SIZES=NM_005686.2:1869;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=2915,5363;ESP6500_EA_GTC=523,1869,1747;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005686.2:intron;ESP6500_GL=SOX13;ESP6500_GRCh38_POSITION=1:204116481;ESP6500_GTC=671,2601,2792;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005686.2:c.419-26A>G;ESP6500_MAF=35.2138,26.7013,32.5115;ESP6500_TAC=3943,8185	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1015,87,0
chr1	204117077	rs372878442	G	T	394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.414;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.291;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372878442;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|SOX13|SOX13|transcript|NM_005686.2|protein_coding|5/13|c.592-45G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18169;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204086205;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4123;ESP6500_AA_GTC=0,1,2061;ESP6500_CDS_SIZES=NM_005686.2:1869;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=22;ESP6500_EA_AC=0,8386;ESP6500_EA_GTC=0,0,4193;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005686.2:intron;ESP6500_GL=SOX13;ESP6500_GRCh38_POSITION=1:204117077;ESP6500_GTC=0,1,6254;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005686.2:c.592-45G>T;ESP6500_MAF=0.0,0.0242,0.0080;ESP6500_TAC=1,12509	GT:AD:DP:GQ:PL	0/1:12,16:28:99:423,0,276
chr1	204123001	rs74139464	C	T	461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.866;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=-0.827;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74139464;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|SOX13|SOX13|transcript|NM_005686.2|protein_coding|10/13|c.1134+38C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=194;p3_1000G_AF=0.038738;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=22565;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204092129;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=273,3825;ESP6500_AA_GTC=9,255,1785;ESP6500_CDS_SIZES=NM_005686.2:1869;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=27;ESP6500_EA_AC=319,8073;ESP6500_EA_GTC=5,309,3882;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005686.2:intron;ESP6500_GL=SOX13;ESP6500_GRCh38_POSITION=1:204123001;ESP6500_GTC=14,564,5667;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005686.2:c.1134+38C>T;ESP6500_MAF=3.8012,6.6618,4.7398;ESP6500_TAC=592,11898	GT:AD:DP:GQ:PL	0/1:11,18:29:99:490,0,306
chr1	204141206	rs10793755	A	G	1363.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10793755;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|LOC101929441|LOC101929441|transcript|NR_123739.1|pseudogene||n.-202A>G|||||202|,G|intron_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297760.1|protein_coding|4/7|c.784+109T>C||||||,G|intron_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297761.1|protein_coding|3/6|c.250+109T>C||||||,G|intron_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297762.1|protein_coding|3/6|c.661+109T>C||||||,G|intron_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_018208.3|protein_coding|4/7|c.784+109T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4751;p3_1000G_AF=0.948682;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=19244;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204110334;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1392,129,0
chr1	204155242	rs11571092;rs3215332	AC	A	420.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=0.976;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11571092,rs3215332;dbSNPBuildID=106,120;ANN=A|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297760.1|protein_coding||c.-3391delG|||||3061|,A|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297761.1|protein_coding||c.-8495delG|||||3061|,A|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297762.1|protein_coding||c.-3391delG|||||3061|,A|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_018208.3|protein_coding||c.-3391delG|||||3061|,A|intron_variant|MODIFIER|REN|REN|transcript|NM_000537.3|protein_coding|9/9|c.1060-66delG||||||;p3_1000G_AA=CCCC|CCCCC|CCCC|insertion;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=18077;p3_1000G_EAS_AF=0.2063;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204124370;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:42:458,42,0
chr1	204155737	rs2368564	C	T	291.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2368564;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297760.1|protein_coding||c.-3885G>A|||||3555|,T|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297761.1|protein_coding||c.-8989G>A|||||3555|,T|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297762.1|protein_coding||c.-3885G>A|||||3555|,T|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_018208.3|protein_coding||c.-3885G>A|||||3555|,T|intron_variant|MODIFIER|REN|REN|transcript|NM_000537.3|protein_coding|9/9|c.1059+83G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1855;p3_1000G_AF=0.370407;p3_1000G_AFR_AF=0.7405;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=19402;p3_1000G_EAS_AF=0.2063;p3_1000G_EUR_AF=0.2594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204124865;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:320,30,0
chr1	204156144	rs3795574	C	A	968.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795574;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297760.1|protein_coding||c.-4292G>T|||||3962|,A|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297761.1|protein_coding||c.-9396G>T|||||3962|,A|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297762.1|protein_coding||c.-4292G>T|||||3962|,A|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_018208.3|protein_coding||c.-4292G>T|||||3962|,A|intron_variant|MODIFIER|REN|REN|transcript|NM_000537.3|protein_coding|8/9|c.960+34G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1082;p3_1000G_AF=0.216054;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=19067;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.1223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204125272;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1721,2685;ESP6500_AA_AGE=517.2+/-369.4;ESP6500_AA_GTC=341,1039,823;ESP6500_CDS_SIZES=NM_000537.3:1221;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=220;ESP6500_EA_AC=1125,7475;ESP6500_EA_AGE=231.5+/-265.5;ESP6500_EA_GTC=73,979,3248;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000537.3:intron;ESP6500_GL=REN;ESP6500_GRCh38_POSITION=1:204156144;ESP6500_GTC=414,2018,4071;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000537.3:c.960+34G>T;ESP6500_MAF=13.0814,39.0604,21.8822;ESP6500_TAC=2846,10160	GT:AD:DP:GQ:PL	1/1:0,34:34:99:997,102,0
chr1	204156336	rs3839003	T	TCAGACAGA	181.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNPBuildID=107;ANN=TCAGACAGA|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297760.1|protein_coding||c.-4492_-4485dupTCTGTCTG|||||4155|,TCAGACAGA|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297761.1|protein_coding||c.-9596_-9589dupTCTGTCTG|||||4155|,TCAGACAGA|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297762.1|protein_coding||c.-4492_-4485dupTCTGTCTG|||||4155|,TCAGACAGA|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_018208.3|protein_coding||c.-4492_-4485dupTCTGTCTG|||||4155|,TCAGACAGA|intron_variant|MODIFIER|REN|REN|transcript|NM_000537.3|protein_coding|7/9|c.819-25_819-18dupTCTGTCTG||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:14:219,14,0
chr1	204156381	rs11571088	T	G	171.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11571088;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297760.1|protein_coding||c.-4529A>C|||||4199|,G|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297761.1|protein_coding||c.-9633A>C|||||4199|,G|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_001297762.1|protein_coding||c.-4529A>C|||||4199|,G|upstream_gene_variant|MODIFIER|ETNK2|ETNK2|transcript|NM_018208.3|protein_coding||c.-4529A>C|||||4199|,G|intron_variant|MODIFIER|REN|REN|transcript|NM_000537.3|protein_coding|7/9|c.819-62A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=428;p3_1000G_AF=0.0854633;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=16596;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.0696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204125509;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:200,15,0
chr1	204160543	rs5707;256380	A	C	705.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.813;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.129;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.256;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5707;dbSNPBuildID=52;ANN=C|intron_variant|MODIFIER|REN|REN|transcript|NM_000537.3|protein_coding|4/9|c.492+17T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1408;p3_1000G_AF=0.28115;p3_1000G_AFR_AF=0.2837;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=19292;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204129671;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1188,3218;ESP6500_AA_AGE=415.2+/-337.1;ESP6500_AA_GTC=178,832,1193;ESP6500_CDS_SIZES=NM_000537.3:1221;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=115;ESP6500_EA_AC=2017,6583;ESP6500_EA_AGE=352.5+/-328.7;ESP6500_EA_GTC=261,1495,2544;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000537.3:intron;ESP6500_GL=REN;ESP6500_GRCh38_POSITION=1:204160543;ESP6500_GTC=439,2327,3737;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_000537.3:c.492+17T>G;ESP6500_MAF=23.4535,26.9632,24.6425;ESP6500_TAC=3205,9801;CLINVAR_AF_ESP=0.2464;CLINVAR_AF_EXAC=0.25309;CLINVAR_AF_TGP=0.2812;CLINVAR_ALLELEID=249672;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.204160543A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=REN:5972;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5707	GT:AD:DP:GQ:PL	0/1:20,28:48:99:734,0,533
chr1	204190483	rs71745629;403018	CT	C	217.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.701;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.425;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71745629;dbSNPBuildID=138;ANN=C|frameshift_variant&stop_lost|HIGH|KISS1|KISS1|transcript|NM_002256.3|protein_coding|3/3|c.417delA|p.Ter139fs|571/714|417/417|139/138||;p3_1000G_AA=T|T|-|deletion;p3_1000G_AC=1111;p3_1000G_AF=0.221845;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=7486;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.2167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204159611;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=INDEL;ESP6500_AA_AC=293,3157;ESP6500_AA_GTC=49,195,1481;ESP6500_CDS_SIZES=NM_002256.3:417;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=8;ESP6500_EA_AC=1549,6015;ESP6500_EA_GTC=276,997,2509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002256.3:frameshift;ESP6500_GL=KISS1;ESP6500_GRCh38_POSITION=1:204190483;ESP6500_GTC=325,1192,3990;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002256.3:c.417del1;ESP6500_HGVS_PROTEIN_VAR=NM_002256.3:p.(*139Wfs*8);ESP6500_MAF=20.4786,8.4928,16.7242;ESP6500_TAC=1842,9172;CLINVAR_ALLELEID=389367;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.204190484delT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=KISS1:3814;CLINVAR_MC=SO:0001589|frameshift_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=71745629	GT:AD:DP:GQ:PL	0/1:12,8:20:99:255,0,425
chr1	204190659	rs4889	G	C	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.261;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=6.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.391;SOR=0.814;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4889;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|KISS1|KISS1|transcript|NM_002256.3|protein_coding|3/3|c.242C>G|p.Pro81Arg|396/714|242/417|81/138||;p3_1000G_AA=G|||;p3_1000G_AC=1652;p3_1000G_AF=0.329872;p3_1000G_AFR_AF=0.4009;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=8959;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204159787;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=673,1913;ESP6500_AA_GTC=94,485,714;ESP6500_CDS_SIZES=NM_002256.3:417;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=4;ESP6500_EA_AC=1170,5064;ESP6500_EA_GTC=125,920,2072;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002256.3:missense;ESP6500_GL=KISS1;ESP6500_GRCh38_POSITION=1:204190659;ESP6500_GS=103;ESP6500_GTC=219,1405,2786;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002256.3:c.242C>G;ESP6500_HGVS_PROTEIN_VAR=NM_002256.3:p.(P81R);ESP6500_MAF=18.768,26.0247,20.8957;ESP6500_PH=possibly-damaging:0.524;ESP6500_TAC=1843,6977	GT:AD:DP:GQ:PL	0/1:15,10:25:99:267,0,443
chr1	204229081	rs3795571	A	G	690.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.253;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.027;SOR=0.487;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795571;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|19/23|c.2607T>C|p.His869His|2937/7414|2607/3147|869/1048||;p3_1000G_AA=G|||;p3_1000G_AC=2566;p3_1000G_AF=0.51238;p3_1000G_AFR_AF=0.6967;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=19143;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.4344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204198209;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2912,1494;ESP6500_AA_AGE=475.3+/-357.3;ESP6500_AA_GTC=971,970,262;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=-2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=42;ESP6500_EA_AC=3938,4662;ESP6500_EA_AGE=598.8+/-394.0;ESP6500_EA_GTC=891,2156,1253;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014935.4:coding-synonymous;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204229081;ESP6500_GTC=1862,3126,1515;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.2607T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014935.4:p.(H869);ESP6500_MAF=45.7907,33.9083,47.332;ESP6500_TAC=6850,6156	GT:AD:DP:GQ:PL	0/1:20,26:46:99:719,0,509
chr1	204230486	rs10900562	C	T	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.384;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.179;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.167;SOR=0.243;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10900562;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|18/23|c.2510G>A|p.Arg837Lys|2840/7414|2510/3147|837/1048||;p3_1000G_AA=T|||;p3_1000G_AC=2557;p3_1000G_AF=0.510583;p3_1000G_AFR_AF=0.6914;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=13874;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.4334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204199614;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2895,1507;ESP6500_AA_GTC=980,935,286;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=22;ESP6500_EA_AC=3909,4671;ESP6500_EA_GTC=909,2091,1290;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014935.4:missense;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204230486;ESP6500_GS=26;ESP6500_GTC=1889,3026,1576;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.2510G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014935.4:p.(R837K);ESP6500_MAF=45.5594,34.2344,47.589;ESP6500_PH=benign:0.0;ESP6500_TAC=6804,6178	GT:AD:DP:GQ:PL	0/1:20,15:35:99:409,0,579
chr1	204241622	rs4412655	C	A	338.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.3;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.583;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.131;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4412655;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|16/22|c.2302+63G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1641;p3_1000G_AF=0.327676;p3_1000G_AFR_AF=0.1846;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=19804;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204210750;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:367,0,446
chr1	204241663	rs4951325	G	A	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.831;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.193;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4951325;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|16/22|c.2302+22C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1642;p3_1000G_AF=0.327875;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=19020;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204210791;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1060,3346;ESP6500_AA_AGE=386.8+/-326.2;ESP6500_AA_GTC=116,828,1259;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=106;ESP6500_EA_AC=3148,5452;ESP6500_EA_AGE=479.2+/-370.1;ESP6500_EA_GTC=566,2016,1718;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014935.4:intron;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204241663;ESP6500_GTC=682,2844,2977;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.2302+22C>T;ESP6500_MAF=36.6047,24.0581,32.3543;ESP6500_TAC=4208,8798	GT:AD:DP:GQ:PL	0/1:17,18:35:99:460,0,438
chr1	204245847	rs533951551;rs58927549;rs67340416	TACACAC	T	638.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=5.549;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58927549,rs72114224,rs66602475,rs67340416;dbSNPBuildID=135,142,129;ANN=T|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|13/22|c.1921-127_1921-122delGTGTGT||||||	GT:AD:DP:GQ:PL	1/1:0,15:15:45:676,45,0
chr1	204247282	rs4951329	C	T	1089.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4951329;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|13/22|c.1920+83G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3527;p3_1000G_AF=0.704273;p3_1000G_AFR_AF=0.767;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=20526;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204216410;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1118,108,0
chr1	204247340	rs4512713	C	T	1344.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.44;SOR=0.909;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4512713;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|13/22|c.1920+25G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3350;p3_1000G_AF=0.66893;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=18960;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204216468;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2972,1434;ESP6500_AA_AGE=682.0+/-404.1;ESP6500_AA_GTC=1017,938,248;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=-9.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=43;ESP6500_EA_AC=5479,3121;ESP6500_EA_AGE=653.9+/-401.1;ESP6500_EA_GTC=1744,1991,565;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014935.4:intron;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204247340;ESP6500_GTC=2761,2929,813;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.1920+25G>A;ESP6500_MAF=36.2907,32.5465,35.0223;ESP6500_TAC=8451,4555	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1373,147,0
chr1	204247473	rs4288652	G	A	468.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4288652;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|12/22|c.1825-13C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3344;p3_1000G_AF=0.667732;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=18850;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204216601;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2972,1434;ESP6500_AA_AGE=683.5+/-404.3;ESP6500_AA_GTC=1017,938,248;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=5.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=56;ESP6500_EA_AC=5481,3119;ESP6500_EA_AGE=657.2+/-401.4;ESP6500_EA_GTC=1747,1987,566;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014935.4:intron;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204247473;ESP6500_GTC=2764,2925,814;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.1825-13C>T;ESP6500_MAF=36.2674,32.5465,35.0069;ESP6500_TAC=8453,4553	GT:AD:DP:GQ:PL	1/1:0,15:15:45:497,45,0
chr1	204250431	rs3795570	T	G	262.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.12;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795570;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|10/22|c.1593+115A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3475;p3_1000G_AF=0.69389;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=19148;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.6193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204219559;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:291,21,0
chr1	204250722	rs4951331	G	A	230.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4951331;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|9/22|c.1525-108C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3531;p3_1000G_AF=0.705072;p3_1000G_AFR_AF=0.767;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=19481;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204219850;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:259,21,0
chr1	204261453	rs3795569	G	A	901.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795569;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|6/22|c.382-5C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2993;p3_1000G_AF=0.597644;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=19411;p3_1000G_EAS_AF=0.8095;p3_1000G_EUR_AF=0.5268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204230581;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2489,1917;ESP6500_AA_AGE=607.8+/-391.0;ESP6500_AA_GTC=716,1057,430;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=33;ESP6500_EA_AC=4754,3846;ESP6500_EA_AGE=595.6+/-393.5;ESP6500_EA_GTC=1322,2110,868;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014935.4:intron;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204261453;ESP6500_GTC=2038,3167,1298;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.382-5C>T;ESP6500_MAF=44.7209,43.5089,44.3103;ESP6500_TAC=7243,5763	GT:AD:DP:GQ:PL	1/1:0,29:29:87:930,87,0
chr1	204265068	rs765726933;rs796127200;rs796534073	GGT	G	711.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.032;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.96;ReadPosRankSum=0.413;SOR=0.462;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs367707561,rs372137072;dbSNPBuildID=144,146,146;ANN=G|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|5/22|c.281-28_281-27delAC||||||	GT:AD:DP:GQ:PL	1/0:4,16:20:99:749,254,448
chr1	204265068	rs372137072	GGT	GGTGT	711.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.032;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.96;ReadPosRankSum=0.413;SOR=0.462;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GGTGT|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|5/22|c.281-30_281-29dupAC||||||	GT:AD:DP:GQ:PL	0/1:4,11:15:99:749,434,631
chr1	204265094	rs4076020	T	C	1403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.85;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4076020;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|5/22|c.281-52A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3516;p3_1000G_AF=0.702077;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=22295;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204234222;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1975,679;ESP6500_AA_GTC=754,467,106;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=33;ESP6500_EA_AC=3061,1557;ESP6500_EA_GTC=1071,919,319;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014935.4:intron;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204265094;ESP6500_GTC=1825,1386,425;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.281-52A>G;ESP6500_MAF=33.7159,25.584,30.7481;ESP6500_TAC=5036,2236	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1432,96,0
chr1	204265097	rs4073136	G	A	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.112;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.845;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0;SOR=1.214;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4073136;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|5/22|c.281-55C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2325;p3_1000G_AF=0.464257;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=21568;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204234225;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,16:31:99:476,0,476
chr1	204268288	rs10900571	C	T	1110.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.48;SOR=0.85;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10900571;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|4/23|c.127G>A|p.Val43Ile|457/7414|127/3147|43/1048||;p3_1000G_AA=C|||;p3_1000G_AC=3168;p3_1000G_AF=0.632588;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=15353;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.661;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204237416;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2220,2186;ESP6500_AA_AGE=590.6+/-387.4;ESP6500_AA_GTC=573,1074,556;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=84;ESP6500_EA_AC=5795,2805;ESP6500_EA_AGE=677.5+/-403.4;ESP6500_EA_GTC=1967,1861,472;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014935.4:missense;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204268288;ESP6500_GS=29;ESP6500_GTC=2540,2935,1028;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.127G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014935.4:p.(V43I);ESP6500_MAF=32.6163,49.6142,38.3746;ESP6500_PH=benign:0.0;ESP6500_TAC=8015,4991	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1139,117,0
chr1	204273603	rs35803438	C	A	329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.186;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.496;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-1.224;SOR=0.35;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35803438;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|3/22|c.102+23G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1003;p3_1000G_AF=0.20028;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=19146;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204242731;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=631,3775;ESP6500_AA_AGE=271.9+/-270.5;ESP6500_AA_GTC=50,531,1622;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=96;ESP6500_EA_AC=1478,7122;ESP6500_EA_AGE=281.0+/-294.8;ESP6500_EA_GTC=144,1190,2966;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014935.4:intron;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204273603;ESP6500_GTC=194,1721,4588;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.102+23G>T;ESP6500_MAF=17.186,14.3214,16.2156;ESP6500_TAC=2109,10897	GT:AD:DP:GQ:PL	0/1:21,15:36:99:358,0,626
chr1	204273710	rs33911350	A	C	686.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0.995;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.58;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs33911350;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|3/23|c.18T>G|p.Gly6Gly|348/7414|18/3147|6/1048||;p3_1000G_AA=A|||;p3_1000G_AC=1004;p3_1000G_AF=0.200479;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=18200;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204242838;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=641,3765;ESP6500_AA_AGE=270.7+/-269.8;ESP6500_AA_GTC=50,541,1612;ESP6500_CDS_SIZES=NM_014935.4:3147;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=144;ESP6500_EA_AC=1474,7126;ESP6500_EA_AGE=276.4+/-292.3;ESP6500_EA_GTC=144,1186,2970;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014935.4:coding-synonymous;ESP6500_GL=PLEKHA6;ESP6500_GRCh38_POSITION=1:204273710;ESP6500_GTC=194,1727,4582;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014935.4:c.18T>G;ESP6500_HGVS_PROTEIN_VAR=NM_014935.4:p.(G6);ESP6500_MAF=17.1395,14.5483,16.2617;ESP6500_TAC=2115,10891	GT:AD:DP:GQ:PL	0/1:29,27:56:99:715,0,667
chr1	204346711	rs34421009	T	G	57.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34421009;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|1/22|c.-95+12983A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=844;p3_1000G_AF=0.16853;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=19939;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.2644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204315839;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:85,6,0
chr1	204346754	rs200317938;rs35603588;rs544552522	C	CT	37.0	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-1.282;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35603588,rs200317938;dbSNPBuildID=142,126,138;ANN=CT|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|1/22|c.-95+12939dupA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2755;p3_1000G_AF=0.55012;p3_1000G_AFR_AF=0.2753;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=19311;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204315882;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5992;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,4:5:12:74,0,12
chr1	204346954	rs11240724	C	T	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.18;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=7.782;MLEAC=1;MLEAF=0.5;MQ=53.3;MQRankSum=-0.262;QD=14.31;ReadPosRankSum=-1.085;SOR=0.598;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240724;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PLEKHA6|PLEKHA6|transcript|NM_014935.4|protein_coding|1/22|c.-95+12740G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3560;p3_1000G_AF=0.710863;p3_1000G_AFR_AF=0.618;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=21579;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.6541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204316082;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:157,0,119
chr1	204411355	rs34146119	C	G	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.653;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=0.413;SOR=0.792;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34146119;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|PPP1R15B|PPP1R15B|transcript|NM_032833.4|protein_coding|1/2|c.57G>C|p.Arg19Arg|463/5276|57/2142|19/713||;p3_1000G_AA=C|||;p3_1000G_AC=351;p3_1000G_AF=0.0700879;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=15133;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204380483;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=499,3899;ESP6500_AA_GTC=23,453,1723;ESP6500_CDS_SIZES=NM_032833.3:2142;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=46;ESP6500_EA_AC=28,8560;ESP6500_EA_GTC=1,26,4267;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032833.3:coding-synonymous;ESP6500_GL=PPP1R15B;ESP6500_GRCh38_POSITION=1:204411355;ESP6500_GTC=24,479,5990;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_032833.3:c.57G>C;ESP6500_HGVS_PROTEIN_VAR=NM_032833.3:p.(R19);ESP6500_MAF=0.326,11.3461,4.0582;ESP6500_TAC=527,12459	GT:AD:DP:GQ:PL	0/1:21,15:36:99:337,0,682
chr1	204425760	rs372358199;rs56126116;rs796791328	CA	C	51.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.033;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.616;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=2.32;SOR=0.169;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs372358199,rs56126116;dbSNPBuildID=137,138,146;ANN=C|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|32/33|c.4588-20delT||||||;p3_1000G_AA=AAAAAA|AAAAAAA|AAAAAA|insertion;p3_1000G_AC=738;p3_1000G_AF=0.147364;p3_1000G_AFR_AF=0.3116;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=19436;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204394888;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=INDEL;ESP6500_AA_AC=1232,3034;ESP6500_AA_GTC=177,878,1078;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=75;ESP6500_EA_AC=709,7545;ESP6500_EA_GTC=25,659,3443;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204425760;ESP6500_GTC=202,1537,4521;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.4588-20del1;ESP6500_MAF=8.5898,28.8795,15.5032;ESP6500_TAC=1941,10579	GT:AD:DP:GQ:PL	0/1:8,4:12:89:89,0,212
chr1	204427600	rs17406271	A	C	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.216;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.614;SOR=0.579;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17406271;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|32/33|c.4587+48T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=718;p3_1000G_AF=0.143371;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=20099;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204396728;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1221,3185;ESP6500_AA_AGE=703.3+/-407.0;ESP6500_AA_GTC=165,891,1147;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=66;ESP6500_EA_AC=743,7857;ESP6500_EA_AGE=784.7+/-407.6;ESP6500_EA_GTC=28,687,3585;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204427600;ESP6500_GTC=193,1578,4732;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.4587+48T>G;ESP6500_MAF=8.6395,27.7122,15.1007;ESP6500_TAC=1964,11042	GT:AD:DP:GQ:PL	0/1:15,23:38:99:592,0,412
chr1	204427617	rs370349965;rs66929882	GA	G	635.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.206;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.448;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.463;SOR=0.392;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs370349965,rs66929882;dbSNPBuildID=137,138;ANN=G|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|32/33|c.4587+30delT||||||;p3_1000G_AA=AAAAAAA|AAAAAAAA|AAAAAAA|insertion;p3_1000G_AC=688;p3_1000G_AF=0.13738;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=23180;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204396745;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:23,27:50:99:673,0,548
chr1	204427702	rs17334387	G	A	777.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.346;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.377;SOR=0.521;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17334387;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|32/34|c.4533C>T|p.Ser1511Ser|5012/7606|4533/4905|1511/1634||;p3_1000G_AA=G|||;p3_1000G_AC=688;p3_1000G_AF=0.13738;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=19457;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204396830;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1131,3275;ESP6500_AA_AGE=405.1+/-333.4;ESP6500_AA_GTC=142,847,1214;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=191;ESP6500_EA_AC=741,7859;ESP6500_EA_AGE=178.0+/-227.5;ESP6500_EA_GTC=28,685,3587;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204427702;ESP6500_GTC=170,1532,4801;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.4533C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(S1511);ESP6500_MAF=8.6163,25.6695,14.3934;ESP6500_TAC=1872,11134	GT:AD:DP:GQ:PL	0/1:33,33:66:99:806,0,822
chr1	204429810	rs2271418	G	A	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.891;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.601;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271418;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|30/33|c.4398+111C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=690;p3_1000G_AF=0.13778;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=17337;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204398938;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,14:27:99:395,0,391
chr1	204429933	rs2271419	A	G	1280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.58;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.454;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271419;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|30/34|c.4386T>C|p.Pro1462Pro|4865/7606|4386/4905|1462/1634||;p3_1000G_AA=G|||;p3_1000G_AC=690;p3_1000G_AF=0.13778;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=17000;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204399061;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=130,4276;ESP6500_AA_GTC=55,20,2128;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=34,8566;ESP6500_EA_GTC=11,12,4277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204429933;ESP6500_GTC=66,32,6405;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.4386T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(P1462);ESP6500_MAF=0.3953,2.9505,1.261;ESP6500_TAC=164,12842	GT:AD:DP:GQ:PGT:PID:PL	0/1:47,34:81:99:0|1:204429933_A_G:1309,0,2449
chr1	204429936	rs2271420	G	A	1283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=0.209;SOR=0.887;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271420;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|30/34|c.4383C>T|p.Pro1461Pro|4862/7606|4383/4905|1461/1634||;p3_1000G_AA=G|||;p3_1000G_AC=690;p3_1000G_AF=0.13778;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=16736;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204399064;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=117,4289;ESP6500_AA_GTC=49,19,2135;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=81;ESP6500_EA_AC=33,8567;ESP6500_EA_GTC=10,13,4277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204429936;ESP6500_GTC=59,32,6412;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.4383C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(P1461);ESP6500_MAF=0.3837,2.6555,1.1533;ESP6500_TAC=150,12856	GT:AD:DP:GQ:PGT:PID:PL	0/1:47,35:82:99:0|1:204429933_A_G:1312,0,2427
chr1	204433372	rs2271422	C	T	273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.159;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.394;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-1.28;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271422;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|27/34|c.3897G>A|p.Val1299Val|4376/7606|3897/4905|1299/1634||;p3_1000G_AA=C|||;p3_1000G_AC=224;p3_1000G_AF=0.0447284;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=23446;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204402500;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=283,4123;ESP6500_AA_AGE=157.8+/-190.6;ESP6500_AA_GTC=3,277,1923;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=109;ESP6500_EA_AC=26,8574;ESP6500_EA_AGE=19.2+/-60.6;ESP6500_EA_GTC=0,26,4274;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204433372;ESP6500_GTC=3,303,6197;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.3897G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(V1299);ESP6500_MAF=0.3023,6.4231,2.3758;ESP6500_TAC=309,12697	GT:AD:DP:GQ:PL	0/1:21,13:34:99:302,0,545
chr1	204433770	rs2271423	C	T	469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.568;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.423;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.811;SOR=0.338;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271423;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|26/33|c.3843+23G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=232;p3_1000G_AF=0.0463259;p3_1000G_AFR_AF=0.0802;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=22114;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204402898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=303,4103;ESP6500_AA_AGE=165.1+/-196.6;ESP6500_AA_GTC=4,295,1904;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=173;ESP6500_EA_AC=27,8573;ESP6500_EA_AGE=19.8+/-62.0;ESP6500_EA_GTC=0,27,4273;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204433770;ESP6500_GTC=4,322,6177;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.3843+23G>A;ESP6500_MAF=0.314,6.877,2.5373;ESP6500_TAC=330,12676	GT:AD:DP:GQ:PL	0/1:17,17:34:99:498,0,439
chr1	204434531	rs3747636	A	G	866.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.36;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=6.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.403;SOR=0.989;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747636;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|25/34|c.3594T>C|p.Asn1198Asn|4073/7606|3594/4905|1198/1634||;p3_1000G_AA=G|||;p3_1000G_AC=2028;p3_1000G_AF=0.404952;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=23776;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.2594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204403659;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2104,2302;ESP6500_AA_AGE=601.4+/-389.7;ESP6500_AA_GTC=495,1114,594;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-7.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=78;ESP6500_EA_AC=1876,6724;ESP6500_EA_AGE=728.1+/-406.7;ESP6500_EA_GTC=189,1498,2613;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204434531;ESP6500_GTC=684,2612,3207;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.3594T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(N1198);ESP6500_MAF=21.814,47.7531,30.6013;ESP6500_TAC=3980,9026	GT:AD:DP:GQ:PL	0/1:32,37:69:99:895,0,769
chr1	204439007	rs41302123	G	A	795.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.99;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=10.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.479;SOR=1.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41302123;dbSNPBuildID=127;ANN=A|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|24/34|c.3444C>T|p.Thr1148Thr|3923/7606|3444/4905|1148/1634||;p3_1000G_AA=G|||;p3_1000G_AC=234;p3_1000G_AF=0.0467252;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=18945;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204408135;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=308,4098;ESP6500_AA_AGE=166.5+/-197.7;ESP6500_AA_GTC=6,296,1901;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-8.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=83;ESP6500_EA_AC=26,8574;ESP6500_EA_AGE=19.2+/-60.6;ESP6500_EA_GTC=0,26,4274;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204439007;ESP6500_GTC=6,322,6175;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.3444C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(T1148);ESP6500_MAF=0.3023,6.9905,2.568;ESP6500_TAC=334,12672	GT:AD:DP:GQ:PL	0/1:34,30:64:99:824,0,939
chr1	204440153	rs3014631	C	G	2012.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=2.256;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3014631;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|23/33|c.3379+39G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4568;p3_1000G_AF=0.912141;p3_1000G_AFR_AF=0.6732;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=18184;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204409281;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3293,1113;ESP6500_AA_AGE=395.4+/-329.6;ESP6500_AA_GTC=1243,807,153;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=65;ESP6500_EA_AC=8589,11;ESP6500_EA_AGE=8.4+/-32.0;ESP6500_EA_GTC=4289,11,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204440153;ESP6500_GTC=5532,818,153;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.3379+39G>C;ESP6500_MAF=0.1279,25.261,8.6422;ESP6500_TAC=11882,1124	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,49:49:99:1|1:204440153_C_G:2041,150,0
chr1	204440160	rs17847763	C	A	852.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.606;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.77;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.831;SOR=0.36;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17847763;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|23/33|c.3379+32G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=243;p3_1000G_AF=0.0485224;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=18230;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204409288;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=340,4066;ESP6500_AA_AGE=175.9+/-205.1;ESP6500_AA_GTC=6,328,1869;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=71;ESP6500_EA_AC=26,8574;ESP6500_EA_AGE=18.5+/-59.3;ESP6500_EA_GTC=0,26,4274;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204440160;ESP6500_GTC=6,354,6143;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.3379+32G>T;ESP6500_MAF=0.3023,7.7167,2.8141;ESP6500_TAC=366,12640	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,33:55:99:0|1:204440153_C_G:881,0,593
chr1	204441319	rs2999496	A	G	305.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2999496;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|22/33|c.3249+152T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4568;p3_1000G_AF=0.912141;p3_1000G_AFR_AF=0.6732;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=21622;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204410447;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:334,27,0
chr1	204441404	rs79390725	T	C	452.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-0.214;SOR=0.848;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79390725;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|22/33|c.3249+67A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=229;p3_1000G_AF=0.0457268;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=22066;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204410532;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,16:27:99:481,0,278
chr1	204441667	rs3747635	G	A	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=-0.431;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747635;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|21/33|c.3157-104C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=229;p3_1000G_AF=0.0457268;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=19790;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204410795;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:62:140,0,62
chr1	204444169	rs2292459	C	T	769.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.238;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.244;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.465;SOR=0.439;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292459;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|18/33|c.2773-7G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3059;p3_1000G_AF=0.610823;p3_1000G_AFR_AF=0.4236;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=22811;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204413297;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2251,2155;ESP6500_AA_AGE=593.5+/-388.0;ESP6500_AA_GTC=584,1083,536;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=6990,1610;ESP6500_EA_AGE=741.8+/-407.2;ESP6500_EA_GTC=2826,1338,136;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204444169;ESP6500_GTC=3410,2421,672;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.2773-7G>A;ESP6500_MAF=18.7209,48.9106,28.9482;ESP6500_TAC=9241,3765	GT:AD:DP:GQ:PL	0/1:27,29:56:99:798,0,702
chr1	204449070	rs2271427	T	C	412.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271427;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|15/33|c.2346+115A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3370;p3_1000G_AF=0.672923;p3_1000G_AFR_AF=0.5666;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=21233;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.7803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204418198;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:441,39,0
chr1	204449236	rs17847754	G	A	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=5.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.675;SOR=1.327;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17847754;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|15/34|c.2295C>T|p.Ser765Ser|2774/7606|2295/4905|765/1634||;p3_1000G_AA=g|||;p3_1000G_AC=178;p3_1000G_AF=0.0355431;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=18144;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204418364;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=87,4319;ESP6500_AA_AGE=72.5+/-110.5;ESP6500_AA_GTC=0,87,2116;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=61;ESP6500_EA_AC=17,8583;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=0,17,4283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204449236;ESP6500_GTC=0,104,6399;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.2295C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(S765);ESP6500_MAF=0.1977,1.9746,0.7996;ESP6500_TAC=104,12902	GT:AD:DP:GQ:PL	0/1:17,12:29:99:301,0,399
chr1	204449761	rs2999492	C	T	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.637;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.366;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2999492;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|14/33|c.2234+89G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3098;p3_1000G_AF=0.61861;p3_1000G_AFR_AF=0.4614;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=17483;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.7744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204418889;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:95:95,0,141
chr1	204456873	rs1242023567;rs781749049	A	AACAC	241.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.485;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=1.15;SOR=0.293;INS;HET;VARTYPE=INS;dbSNPBuildID=151,144;ANN=AACAC|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|11/33|c.1747+160_1747+163dupGTGT||||||	GT:AD:DP:GQ:PL	0/1:5,7:12:99:279,0,184
chr1	204456878	rs202074192	ACACACACACACACACACACACACACACACC	A	97.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.521;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-1.177;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs202074192;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|11/33|c.1747+129_1747+158delGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG||||||	GT:AD:DP:GQ:PL	0/1:11,4:15:99:135,0,490
chr1	204457652	rs61762599	T	C	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.792;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61762599;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|10/33|c.1713+76A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=313;p3_1000G_AF=0.0625;p3_1000G_AFR_AF=0.1354;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=20643;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204426780;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:100,0,108
chr1	204457979	rs17847747	G	C	24.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.25;ReadPosRankSum=-1.282;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17847747;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|9/33|c.1567-105C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=376;p3_1000G_AF=0.0750799;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=19434;p3_1000G_EAS_AF=0.0744;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204427107;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,2:11:53:53,0,343
chr1	204459870	rs17847745	G	C	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.812;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=1.42;SOR=0.707;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17847745;dbSNPBuildID=123;ANN=C|splice_region_variant&intron_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|9/33|c.1566+8C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=184;p3_1000G_AF=0.0367412;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=17555;p3_1000G_EAS_AF=0.1022;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204428998;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=101,4305;ESP6500_AA_AGE=80.4+/-118.8;ESP6500_AA_GTC=2,97,2104;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=64;ESP6500_EA_AC=13,8587;ESP6500_EA_AGE=9.8+/-36.6;ESP6500_EA_GTC=0,13,4287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204459870;ESP6500_GTC=2,110,6391;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.1566+8C>G;ESP6500_MAF=0.1512,2.2923,0.8765;ESP6500_TAC=114,12892	GT:AD:DP:GQ:PL	0/1:19,12:31:99:322,0,488
chr1	204460007	rs17847744	C	G	444.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.738;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=-0.995;SOR=1.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17847744;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|8/33|c.1503-66G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=184;p3_1000G_AF=0.0367412;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=19038;p3_1000G_EAS_AF=0.0744;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204429135;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=62,1322;ESP6500_AA_GTC=0,62,630;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=53;ESP6500_EA_AC=12,3170;ESP6500_EA_GTC=0,12,1579;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204460007;ESP6500_GTC=0,74,2209;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.1503-66G>C;ESP6500_MAF=0.3771,4.4798,1.6207;ESP6500_TAC=74,4492	GT:AD:DP:GQ:PL	0/1:6,17:23:99:473,0,149
chr1	204460084	rs5013460	A	T	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.203;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.6;ReadPosRankSum=0.854;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5013460;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|8/33|c.1503-143T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4443;p3_1000G_AF=0.887181;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18698;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204429212;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:99:0|1:204460084_A_T:201,0,111
chr1	204460085	rs5013459	T	G	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.6;ReadPosRankSum=0.703;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5013459;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|8/33|c.1503-144A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4443;p3_1000G_AF=0.887181;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18675;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204429213;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:99:0|1:204460084_A_T:201,0,111
chr1	204460087	rs5013458	T	A	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.6;ReadPosRankSum=0.703;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5013458;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|8/33|c.1503-146A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4443;p3_1000G_AF=0.887181;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18693;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204429215;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:99:0|1:204460084_A_T:201,0,111
chr1	204460088	rs5013457	A	G	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.6;ReadPosRankSum=0.703;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5013457;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|8/33|c.1503-147T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4443;p3_1000G_AF=0.887181;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=19690;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204429216;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:99:0|1:204460084_A_T:201,0,111
chr1	204460673	rs2271413	G	A	876.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.578;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.488;SOR=0.806;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271413;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|6/33|c.1311-12C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=150;p3_1000G_AF=0.0299521;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=20645;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204429801;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=27,4379;ESP6500_AA_AGE=33.5+/-64.1;ESP6500_AA_GTC=0,27,2176;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=96;ESP6500_EA_AC=13,8587;ESP6500_EA_AGE=9.8+/-36.6;ESP6500_EA_GTC=0,13,4287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204460673;ESP6500_GTC=0,40,6463;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.1311-12C>T;ESP6500_MAF=0.1512,0.6128,0.3076;ESP6500_TAC=40,12966	GT:AD:DP:GQ:PL	0/1:39,34:73:99:905,0,1157
chr1	204464383	rs11455991;rs397729249	T	TC	1142.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.46;SOR=3.545;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11455991;dbSNPBuildID=135,138;ANN=TC|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|5/33|c.1189+66dupG||||||;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=4585;p3_1000G_AF=0.915535;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=21156;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204433511;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1180,96,0
chr1	204465149	rs2942149	T	C	394.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2942149;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|4/33|c.1034+70A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=4585;p3_1000G_AF=0.915535;p3_1000G_AFR_AF=0.6982;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=14741;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204434277;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:423,39,0
chr1	204465197	rs58247897	C	CCT	952.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs58247897;dbSNPBuildID=129;ANN=CCT|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|4/33|c.1034+21_1034+22insAG||||||;p3_1000G_AC=1711;p3_1000G_AF=0.341653;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=13784;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.2157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204434325;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=INDEL;ESP6500_AA_AC=1404,2862;ESP6500_AA_GTC=237,930,966;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=76;ESP6500_EA_AC=1487,6767;ESP6500_EA_GTC=114,1259,2754;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204465197;ESP6500_GTC=351,2189,3720;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.1034+21_1034+22insAG;ESP6500_MAF=18.0155,32.9114,23.0911;ESP6500_TAC=2891,9629	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:204465197_C_CCT:990,66,0
chr1	204465198	rs17847779	A	G	961.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17847779;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|4/33|c.1034+21T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1711;p3_1000G_AF=0.341653;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=13201;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.2157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204434326;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:204465197_C_CCT:990,66,0
chr1	204466938	rs16853773	G	A	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.242;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.781;SOR=0.717;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16853773;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|3/33|c.934-1619C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1020;p3_1000G_AF=0.203674;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=15914;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.2068;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204436066;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=151,1601;ESP6500_AA_GTC=7,137,732;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=5.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=22;ESP6500_EA_AC=672,3306;ESP6500_EA_GTC=49,574,1366;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002646.3:intron;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204466938;ESP6500_GTC=56,711,2098;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.934-1619C>T;ESP6500_MAF=16.8929,8.6187,14.363;ESP6500_TAC=823,4907	GT:AD:DP:GQ:PL	0/1:26,22:48:99:522,0,711
chr1	204469206	rs1124777	C	T	816.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.657;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.163;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=-0.7;SOR=0.452;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1124777;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|3/34|c.597G>A|p.Pro199Pro|1076/7606|597/4905|199/1634||;p3_1000G_AA=C|||;p3_1000G_AC=3646;p3_1000G_AF=0.728035;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=16842;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.9841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204438334;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1649,2757;ESP6500_AA_AGE=505.1+/-366.0;ESP6500_AA_GTC=352,945,906;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=158;ESP6500_EA_AC=8453,147;ESP6500_EA_AGE=812.7+/-407.1;ESP6500_EA_GTC=4154,145,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204469206;ESP6500_GTC=4506,1090,907;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.597G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(P199);ESP6500_MAF=1.7093,37.4262,22.3282;ESP6500_TAC=10102,2904	GT:AD:DP:GQ:PL	0/1:18,30:48:99:845,0,458
chr1	204469515	rs1553921	G	T	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.595;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=4.144;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.33;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1553921;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|PIK3C2B|PIK3C2B|transcript|NM_002646.3|protein_coding|3/34|c.288C>A|p.Leu96Leu|767/7606|288/4905|96/1634||;p3_1000G_AA=G|||;p3_1000G_AC=3642;p3_1000G_AF=0.727236;p3_1000G_AFR_AF=0.2368;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=18482;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.9841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204438643;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.911;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1643,2763;ESP6500_AA_AGE=504.7+/-365.9;ESP6500_AA_GTC=358,927,918;ESP6500_CDS_SIZES=NM_002646.3:4905;ESP6500_CG=0.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=102;ESP6500_EA_AC=8453,147;ESP6500_EA_AGE=812.8+/-407.0;ESP6500_EA_GTC=4154,145,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002646.3:coding-synonymous;ESP6500_GL=PIK3C2B;ESP6500_GRCh38_POSITION=1:204469515;ESP6500_GTC=4512,1072,919;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002646.3:c.288C>A;ESP6500_HGVS_PROTEIN_VAR=NM_002646.3:p.(L96);ESP6500_MAF=1.7093,37.2901,22.3743;ESP6500_TAC=10096,2910	GT:AD:DP:GQ:PL	0/1:23,24:47:99:571,0,663
chr1	204526467	rs200388119;rs575722286	G	GT	12.96	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.93;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=1.29;SOR=0.307;INS;HET;VARTYPE=INS;dbSNP138_ID=rs200388119,rs373025364;dbSNPBuildID=137,142;ANN=GT|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_002393.4|protein_coding|3/10|c.153+47dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204171.1|protein_coding|3/9|c.153+47dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204172.1|protein_coding|2/2|c.78+885dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278516.1|protein_coding|3/9|c.153+47dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278517.1|protein_coding|2/7|c.78+885dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278518.1|protein_coding|3/6|c.153+47dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278519.1|protein_coding|3/4|c.153+47dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:5,3:8:50:50,0,105
chr1	204532255	rs4252697	C	T	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.207;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.406;SOR=0.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4252697;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_002393.4|protein_coding|5/10|c.343+9C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204171.1|protein_coding|5/9|c.343+9C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204172.1|protein_coding|2/2|c.78+6659C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278516.1|protein_coding|5/9|c.343+9C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278517.1|protein_coding|2/7|c.79-5204C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278518.1|protein_coding|5/6|c.343+9C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278519.1|protein_coding|3/4|c.153+5821C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=992;p3_1000G_AF=0.198083;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=16777;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.2207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204501383;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=361,4045;ESP6500_AA_AGE=186.0+/-213.0;ESP6500_AA_GTC=17,327,1859;ESP6500_CDS_SIZES=NM_002393.4:1473,NM_001204172.1:495,NM_001204171.1:1323;ESP6500_CG=2.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=129;ESP6500_EA_AC=1664,6936;ESP6500_EA_AGE=306.0+/-307.7;ESP6500_EA_GTC=143,1378,2779;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002393.4:intron,NM_001204172.1:intron,NM_001204171.1:intron;ESP6500_GL=MDM4;ESP6500_GRCh38_POSITION=1:204532255;ESP6500_GTC=160,1705,4638;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002393.4:c.343+9C>T,NM_001204172.1:c.78+6659C>T,NM_001204171.1:c.343+9C>T;ESP6500_MAF=19.3488,8.1934,15.5697;ESP6500_TAC=2025,10981	GT:AD:DP:GQ:PL	0/1:15,19:34:99:453,0,385
chr1	204536979	rs4245738	C	T	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.272;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4245738;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_002393.4|protein_coding|5/10|c.344-451C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204171.1|protein_coding|5/9|c.344-451C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204172.1|protein_coding|2/2|c.78+11383C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278516.1|protein_coding|5/9|c.344-1230C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278517.1|protein_coding|2/7|c.79-480C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278518.1|protein_coding|5/6|c.343+4733C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278519.1|protein_coding|3/4|c.154-9818C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2762;p3_1000G_AF=0.551518;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=16589;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204506107;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:100,0,112
chr1	204537046	rs398089823;rs4252704	CT	C	22.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=0;SOR=2.225;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs4252704;dbSNPBuildID=111,138;ANN=C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_002393.4|protein_coding|5/10|c.344-380delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204171.1|protein_coding|5/9|c.344-380delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204172.1|protein_coding|2/2|c.78+11454delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278516.1|protein_coding|5/9|c.344-1159delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278517.1|protein_coding|2/7|c.79-409delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278518.1|protein_coding|5/6|c.343+4804delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278519.1|protein_coding|3/4|c.154-9747delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTT|TTTT|TTT|deletion;p3_1000G_AC=985;p3_1000G_AF=0.196685;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=17085;p3_1000G_EAS_AF=0.4008;p3_1000G_EUR_AF=0.2187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204506174;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,2:3:25:60,0,25
chr1	204542972	rs4252717	T	C	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.92;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=2.07;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4252717;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_002393.4|protein_coding|8/10|c.672+28T>C||||||,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204171.1|protein_coding|8/9|c.672+28T>C||||||,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204172.1|protein_coding|2/2|c.79-6294T>C||||||,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278516.1|protein_coding|7/9|c.*181+28T>C||||||,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278517.1|protein_coding|5/7|c.378+28T>C||||||,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278518.1|protein_coding|5/6|c.344-3825T>C||||||,C|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278519.1|protein_coding|3/4|c.154-3825T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2680;p3_1000G_AF=0.535144;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=19776;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.6879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204512100;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1231,3175;ESP6500_AA_GTC=188,855,1160;ESP6500_CDS_SIZES=NM_002393.4:1473,NM_001204172.1:495,NM_001204171.1:1323;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=58;ESP6500_EA_AC=5812,2788;ESP6500_EA_GTC=1999,1814,487;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002393.4:intron,NM_001204172.1:intron,NM_001204171.1:intron;ESP6500_GL=MDM4;ESP6500_GRCh38_POSITION=1:204542972;ESP6500_GTC=2187,2669,1647;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002393.4:c.672+28T>C,NM_001204172.1:c.79-6294T>C,NM_001204171.1:c.672+28T>C;ESP6500_MAF=32.4186,27.9392,45.8481;ESP6500_TAC=7043,5963	GT:AD:DP:GQ:PL	0/1:8,8:16:99:150,0,233
chr1	204546735	rs2290855	C	T	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.476;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=7.14;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.09;SOR=0.098;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290855;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_002393.4|protein_coding|9/10|c.823-62C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204171.1|protein_coding|8/9|c.673-62C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204172.1|protein_coding|2/2|c.79-2531C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278516.1|protein_coding|8/9|c.*332-62C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278517.1|protein_coding|6/7|c.529-62C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278518.1|protein_coding|5/6|c.344-62C>T||||||,T|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278519.1|protein_coding|3/4|c.154-62C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2688;p3_1000G_AF=0.536741;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=18742;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.6879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204515863;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,15:22:99:363,0,196
chr1	204546897	rs2290854	A	G	655.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.143;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-1.735;SOR=0.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290854;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_002393.4|protein_coding|10/10|c.903+20A>G||||||,G|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204171.1|protein_coding|9/9|c.753+20A>G||||||,G|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204172.1|protein_coding|2/2|c.79-2369A>G||||||,G|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278516.1|protein_coding|9/9|c.*412+20A>G||||||,G|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278517.1|protein_coding|7/7|c.609+20A>G||||||,G|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278518.1|protein_coding|6/6|c.*73+20A>G||||||,G|intron_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278519.1|protein_coding|4/4|c.234+20A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=18701;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204516025;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1285,3121;ESP6500_AA_AGE=698.5+/-406.4;ESP6500_AA_GTC=194,897,1112;ESP6500_CDS_SIZES=NM_002393.4:1473,NM_001204172.1:495,NM_001204171.1:1323;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=5915,2685;ESP6500_EA_AGE=431.1+/-356.7;ESP6500_EA_GTC=2033,1849,418;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002393.4:intron,NM_001204172.1:intron,NM_001204171.1:intron;ESP6500_GL=MDM4;ESP6500_GRCh38_POSITION=1:204546897;ESP6500_GTC=2227,2746,1530;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002393.4:c.903+20A>G,NM_001204172.1:c.79-2369A>G,NM_001204171.1:c.753+20A>G;ESP6500_MAF=31.2209,29.1648,44.6409;ESP6500_TAC=7200,5806	GT:AD:DP:GQ:PL	0/1:20,26:46:99:684,0,434
chr1	204549714	rs4245739	C	A	921.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=2.753;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4245739;dbSNPBuildID=111;ANN=A|3_prime_UTR_variant|MODIFIER|MDM4|MDM4|transcript|NM_002393.4|protein_coding|11/11|c.*32C>A|||||32|,A|3_prime_UTR_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204171.1|protein_coding|10/10|c.*32C>A|||||32|,A|3_prime_UTR_variant|MODIFIER|MDM4|MDM4|transcript|NM_001204172.1|protein_coding|3/3|c.*32C>A|||||32|,A|3_prime_UTR_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278516.1|protein_coding|10/10|c.*1014C>A|||||11426|,A|3_prime_UTR_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278517.1|protein_coding|8/8|c.*32C>A|||||32|,A|3_prime_UTR_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278518.1|protein_coding|7/7|c.*675C>A|||||2910|,A|3_prime_UTR_variant|MODIFIER|MDM4|MDM4|transcript|NM_001278519.1|protein_coding|5/5|c.*32C>A|||||32|;p3_1000G_AA=A|||;p3_1000G_AC=3936;p3_1000G_AF=0.785942;p3_1000G_AFR_AF=0.7685;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=20877;p3_1000G_EAS_AF=0.9504;p3_1000G_EUR_AF=0.7396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204518842;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2425,621;ESP6500_AA_GTC=966,493,64;ESP6500_CDS_SIZES=NM_002393.4:1473,NM_001204172.1:495,NM_001204171.1:1323;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=21;ESP6500_EA_AC=4760,1552;ESP6500_EA_GTC=1781,1198,177;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002393.4:utr-3,NM_001204172.1:utr-3,NM_001204171.1:utr-3;ESP6500_GL=MDM4;ESP6500_GRCh38_POSITION=1:204549714;ESP6500_GTC=2747,1691,241;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002393.4:c.*32C>A,NM_001204172.1:c.*32C>A,NM_001204171.1:c.*32C>A;ESP6500_MAF=24.5881,20.3874,23.2208;ESP6500_TAC=7185,2173	GT:AD:DP:GQ:PL	1/1:0,27:27:81:950,81,0
chr1	204617919	rs11588857	G	A	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.21;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=-0.064;SOR=0.895;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11588857;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|LRRN2|LRRN2|transcript|NM_006338.2|protein_coding|3/3|c.2074C>T|p.Pro692Ser|2462/3208|2074/2142|692/713||,A|missense_variant|MODERATE|LRRN2|LRRN2|transcript|NM_201630.1|protein_coding|2/2|c.2074C>T|p.Pro692Ser|2450/3196|2074/2142|692/713||;p3_1000G_AA=G|||;p3_1000G_AC=923;p3_1000G_AF=0.184305;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=8413;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204587047;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=357,4049;ESP6500_AA_AGE=183.6+/-211.2;ESP6500_AA_GTC=16,325,1862;ESP6500_CDS_SIZES=NM_201630.1:2142,NM_006338.2:2142;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=96;ESP6500_EA_AC=1832,6768;ESP6500_EA_AGE=326.2+/-317.3;ESP6500_EA_GTC=182,1468,2650;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201630.1:missense,NM_006338.2:missense;ESP6500_GL=LRRN2;ESP6500_GRCh38_POSITION=1:204617919;ESP6500_GS=74,74;ESP6500_GTC=198,1793,4512;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201630.1:c.2074C>T,NM_006338.2:c.2074C>T;ESP6500_HGVS_PROTEIN_VAR=NM_201630.1:p.(P692S),NM_006338.2:p.(P692S);ESP6500_MAF=21.3023,8.1026,16.8307;ESP6500_PH=benign:0.047,benign:0.047;ESP6500_TAC=2189,10817	GT:AD:DP:GQ:PL	0/1:13,17:30:99:515,0,249
chr1	204618441	rs3747631	G	C	1296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.822;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0.827;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=1.04;SOR=0.557;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747631;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|LRRN2|LRRN2|transcript|NM_006338.2|protein_coding|3/3|c.1552C>G|p.Leu518Val|1940/3208|1552/2142|518/713||,C|missense_variant|MODERATE|LRRN2|LRRN2|transcript|NM_201630.1|protein_coding|2/2|c.1552C>G|p.Leu518Val|1928/3196|1552/2142|518/713||;p3_1000G_AA=G|||;p3_1000G_AC=925;p3_1000G_AF=0.184704;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=16939;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204587569;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=358,4048;ESP6500_AA_AGE=184.3+/-211.7;ESP6500_AA_GTC=16,326,1861;ESP6500_CDS_SIZES=NM_201630.1:2142,NM_006338.2:2142;ESP6500_CG=3.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=1835,6765;ESP6500_EA_AGE=329.0+/-318.6;ESP6500_EA_GTC=182,1471,2647;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201630.1:missense,NM_006338.2:missense;ESP6500_GL=LRRN2;ESP6500_GRCh38_POSITION=1:204618441;ESP6500_GS=32,32;ESP6500_GTC=198,1797,4508;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_201630.1:c.1552C>G,NM_006338.2:c.1552C>G;ESP6500_HGVS_PROTEIN_VAR=NM_201630.1:p.(L518V),NM_006338.2:p.(L518V);ESP6500_MAF=21.3372,8.1253,16.8614;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=2193,10813	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1325,0,1276
chr1	204619012	rs3747630	G	A	951.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.033;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.946;SOR=0.788;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747630;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|LRRN2|LRRN2|transcript|NM_006338.2|protein_coding|3/3|c.981C>T|p.His327His|1369/3208|981/2142|327/713||,A|synonymous_variant|LOW|LRRN2|LRRN2|transcript|NM_201630.1|protein_coding|2/2|c.981C>T|p.His327His|1357/3196|981/2142|327/713||;p3_1000G_AA=G|||;p3_1000G_AC=1055;p3_1000G_AF=0.210663;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=18119;p3_1000G_EAS_AF=0.3234;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204588140;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=486,3920;ESP6500_AA_AGE=226.5+/-242.0;ESP6500_AA_GTC=27,432,1744;ESP6500_CDS_SIZES=NM_201630.1:2142,NM_006338.2:2142;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=71;ESP6500_EA_AC=2109,6491;ESP6500_EA_AGE=359.4+/-331.5;ESP6500_EA_GTC=249,1611,2440;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201630.1:coding-synonymous,NM_006338.2:coding-synonymous;ESP6500_GL=LRRN2;ESP6500_GRCh38_POSITION=1:204619012;ESP6500_GTC=276,2043,4184;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201630.1:c.981C>T,NM_006338.2:c.981C>T;ESP6500_HGVS_PROTEIN_VAR=NM_201630.1:p.(H327),NM_006338.2:p.(H327);ESP6500_MAF=24.5233,11.0304,19.9523;ESP6500_TAC=2595,10411	GT:AD:DP:GQ:PL	0/1:28,35:63:99:980,0,780
chr1	204619973	rs3789044	G	A	540.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.828;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=8.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-1.155;SOR=0.946;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3789044;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|LRRN2|LRRN2|transcript|NM_006338.2|protein_coding|3/3|c.20C>T|p.Pro7Leu|408/3208|20/2142|7/713||,A|missense_variant|MODERATE|LRRN2|LRRN2|transcript|NM_201630.1|protein_coding|2/2|c.20C>T|p.Pro7Leu|396/3196|20/2142|7/713||;p3_1000G_AA=G|||;p3_1000G_AC=895;p3_1000G_AF=0.178714;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=17566;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204589101;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=306,4064;ESP6500_AA_GTC=13,280,1892;ESP6500_CDS_SIZES=NM_201630.1:2142,NM_006338.2:2142;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=16;ESP6500_EA_AC=1859,6727;ESP6500_EA_GTC=196,1467,2630;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201630.1:missense,NM_006338.2:missense;ESP6500_GL=LRRN2;ESP6500_GRCh38_POSITION=1:204619973;ESP6500_GS=98,98;ESP6500_GTC=209,1747,4522;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201630.1:c.20C>T,NM_006338.2:c.20C>T;ESP6500_HGVS_PROTEIN_VAR=NM_201630.1:p.(P7L),NM_006338.2:p.(P7L);ESP6500_MAF=21.6515,7.0023,16.7104;ESP6500_PH=benign:0.005,benign:0.005;ESP6500_TAC=2165,10791	GT:AD:DP:GQ:PL	0/1:20,23:43:99:569,0,548
chr1	204974157	rs2595945	A	T	1597.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=0.9;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2595945;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001005388.2|protein_coding|12/29|c.1280-22A>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001005389.1|protein_coding|12/15|c.1280-22A>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160333.1|protein_coding|11/14|c.1262-22A>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160332.1|protein_coding|12/27|c.1313-22A>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_015090.3|protein_coding|12/26|c.1313-22A>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160331.1|protein_coding|10/26|c.1313-22A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4583;p3_1000G_AF=0.915136;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=20307;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.993;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204943285;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3346,1060;ESP6500_AA_AGE=715.5+/-408.5;ESP6500_AA_GTC=1265,816,122;ESP6500_CDS_SIZES=NM_015090.3:3510,NM_001160333.1:1842,NM_001160332.1:3525,NM_001160331.1:3570,NM_001005389.1:1860,NM_001005388.2:3723;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=8550,50;ESP6500_EA_AGE=801.2+/-407.4;ESP6500_EA_GTC=4250,50,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015090.3:intron,NM_001160333.1:intron,NM_001160332.1:intron,NM_001160331.1:intron,NM_001005389.1:intron,NM_001005388.2:intron;ESP6500_GL=NFASC;ESP6500_GRCh38_POSITION=1:204974157;ESP6500_GTC=5515,866,122;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015090.3:c.1313-22A>T,NM_001160333.1:c.1262-22A>T,NM_001160332.1:c.1313-22A>T,NM_001160331.1:c.1313-22A>T,NM_001005389.1:c.1280-22A>T,NM_001005388.2:c.1280-22A>T;ESP6500_MAF=0.5814,24.0581,8.5345;ESP6500_TAC=11896,1110	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1626,153,0
chr1	204974819	rs2246662	C	A	1277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=2.191;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2246662;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|NFASC|NFASC|transcript|NM_001005388.2|protein_coding|14/30|c.1554C>A|p.Val518Val|1882/10334|1554/3723|518/1240||,A|synonymous_variant|LOW|NFASC|NFASC|transcript|NM_001005389.1|protein_coding|14/16|c.1554C>A|p.Val518Val|1882/2510|1554/1860|518/619||,A|synonymous_variant|LOW|NFASC|NFASC|transcript|NM_001160333.1|protein_coding|13/15|c.1536C>A|p.Val512Val|1864/2492|1536/1842|512/613||,A|synonymous_variant|LOW|NFASC|NFASC|transcript|NM_001160332.1|protein_coding|14/28|c.1587C>A|p.Val529Val|1915/10136|1587/3525|529/1174||,A|synonymous_variant|LOW|NFASC|NFASC|transcript|NM_015090.3|protein_coding|14/27|c.1587C>A|p.Val529Val|1915/10121|1587/3510|529/1169||,A|synonymous_variant|LOW|NFASC|NFASC|transcript|NM_001160331.1|protein_coding|12/27|c.1587C>A|p.Val529Val|1677/9943|1587/3570|529/1189||;p3_1000G_AA=C|||;p3_1000G_AC=2342;p3_1000G_AF=0.467652;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=21316;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.4125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204943947;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=958,3448;ESP6500_AA_AGE=362.6+/-316.2;ESP6500_AA_GTC=107,744,1352;ESP6500_CDS_SIZES=NM_015090.3:3510,NM_001160333.1:1842,NM_001160332.1:3525,NM_001160331.1:3570,NM_001005389.1:1860,NM_001005388.2:3723;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=81;ESP6500_EA_AC=3338,5262;ESP6500_EA_AGE=496.4+/-374.3;ESP6500_EA_GTC=644,2050,1606;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015090.3:coding-synonymous,NM_001160333.1:coding-synonymous,NM_001160332.1:coding-synonymous,NM_001160331.1:coding-synonymous,NM_001005389.1:coding-synonymous,NM_001005388.2:coding-synonymous;ESP6500_GL=NFASC;ESP6500_GRCh38_POSITION=1:204974819;ESP6500_GTC=751,2794,2958;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015090.3:c.1587C>A,NM_001160333.1:c.1536C>A,NM_001160332.1:c.1587C>A,NM_001160331.1:c.1587C>A,NM_001005389.1:c.1554C>A,NM_001005388.2:c.1554C>A;ESP6500_HGVS_PROTEIN_VAR=NM_015090.3:p.(V529),NM_001160333.1:p.(V512),NM_001160332.1:p.(V529),NM_001160331.1:p.(V529),NM_001005389.1:p.(V518),NM_001005388.2:p.(V518);ESP6500_MAF=38.814,21.7431,33.0309;ESP6500_TAC=4296,8710	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1306,120,0
chr1	204974863	rs2246661	C	T	1096.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.17;SOR=3.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2246661;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001005388.2|protein_coding|14/29|c.1558+40C>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001005389.1|protein_coding|14/15|c.1558+40C>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160333.1|protein_coding|13/14|c.1540+40C>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160332.1|protein_coding|14/27|c.1591+40C>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_015090.3|protein_coding|14/26|c.1591+40C>T||||||,T|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160331.1|protein_coding|12/26|c.1591+40C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2564;p3_1000G_AF=0.511981;p3_1000G_AFR_AF=0.3374;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=20308;p3_1000G_EAS_AF=0.6875;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204943991;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1294,3112;ESP6500_AA_GTC=251,792,1160;ESP6500_CDS_SIZES=NM_015090.3:3510,NM_001160333.1:1842,NM_001160332.1:3525,NM_001160331.1:3570,NM_001005389.1:1860,NM_001005388.2:3723;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=2702,5898;ESP6500_EA_GTC=643,1416,2241;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015090.3:intron,NM_001160333.1:intron,NM_001160332.1:intron,NM_001160331.1:intron,NM_001005389.1:intron,NM_001005388.2:intron;ESP6500_GL=NFASC;ESP6500_GRCh38_POSITION=1:204974863;ESP6500_GTC=894,2208,3401;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015090.3:c.1591+40C>T,NM_001160333.1:c.1540+40C>T,NM_001160332.1:c.1591+40C>T,NM_001160331.1:c.1591+40C>T,NM_001005389.1:c.1558+40C>T,NM_001005388.2:c.1558+40C>T;ESP6500_MAF=31.4186,29.369,30.7243;ESP6500_TAC=3996,9010	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:204974863_C_T:1125,75,0
chr1	204974864	rs2794861	A	G	1096.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.88;SOR=3.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2794861;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001005388.2|protein_coding|14/29|c.1558+41A>G||||||,G|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001005389.1|protein_coding|14/15|c.1558+41A>G||||||,G|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160333.1|protein_coding|13/14|c.1540+41A>G||||||,G|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160332.1|protein_coding|14/27|c.1591+41A>G||||||,G|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_015090.3|protein_coding|14/26|c.1591+41A>G||||||,G|intron_variant|MODIFIER|NFASC|NFASC|transcript|NM_001160331.1|protein_coding|12/26|c.1591+41A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4647;p3_1000G_AF=0.927915;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=20298;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.993;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204943992;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3501,905;ESP6500_AA_AGE=724.3+/-409.5;ESP6500_AA_GTC=1396,709,98;ESP6500_CDS_SIZES=NM_015090.3:3510,NM_001160333.1:1842,NM_001160332.1:3525,NM_001160331.1:3570,NM_001005389.1:1860,NM_001005388.2:3723;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=8551,49;ESP6500_EA_AGE=816.0+/-406.9;ESP6500_EA_GTC=4251,49,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015090.3:intron,NM_001160333.1:intron,NM_001160332.1:intron,NM_001160331.1:intron,NM_001005389.1:intron,NM_001005388.2:intron;ESP6500_GL=NFASC;ESP6500_GRCh38_POSITION=1:204974864;ESP6500_GTC=5647,758,98;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015090.3:c.1591+41A>G,NM_001160333.1:c.1540+41A>G,NM_001160332.1:c.1591+41A>G,NM_001160331.1:c.1591+41A>G,NM_001005389.1:c.1558+41A>G,NM_001005388.2:c.1558+41A>G;ESP6500_MAF=0.5698,20.5402,7.3351;ESP6500_TAC=12052,954	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:204974863_C_T:1125,75,0
chr1	205058433	rs9787409	G	T	789.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.104;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.656;SOR=0.729;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9787409;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|4/22|c.391+77G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1471;p3_1000G_AF=0.29373;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=17004;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.1501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205027561;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,34:56:99:818,0,583
chr1	205058609	rs2275697	G	A	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.017;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.675;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275697;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|5/23|c.433G>A|p.Ala145Thr|702/7670|433/3123|145/1040||;p3_1000G_AA=A|||;p3_1000G_AC=1469;p3_1000G_AF=0.293331;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=16061;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.1511;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205027737;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=657,3749;ESP6500_AA_AGE=764.0+/-413.3;ESP6500_AA_GTC=52,553,1598;ESP6500_CDS_SIZES=NM_005076.3:3123;ESP6500_CG=2.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=1349,7251;ESP6500_EA_AGE=755.2+/-407.5;ESP6500_EA_GTC=121,1107,3072;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005076.3:missense;ESP6500_GL=CNTN2;ESP6500_GRCh38_POSITION=1:205058609;ESP6500_GS=58;ESP6500_GTC=173,1660,4670;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005076.3:c.433G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005076.3:p.(A145T);ESP6500_MAF=15.686,14.9115,15.4237;ESP6500_PH=benign:0.0;ESP6500_TAC=2006,11000	GT:AD:DP:GQ:PL	0/1:10,16:26:99:411,0,309
chr1	205059024	rs397964257;rs57918586	A	AC	718.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.381;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=-0.536;SOR=0.474;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57918586;dbSNPBuildID=138,138;ANN=AC|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|5/22|c.488-57dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCC|CCC|CCCC|insertion;p3_1000G_AC=1091;p3_1000G_AF=0.217851;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=18152;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205028152;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:12,25:37:99:756,0,298
chr1	205059695	rs397821332;rs5780262;~rs5780262	A	AG	321.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.171;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=6.956;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.385;SOR=0.078;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5780262;dbSNPBuildID=130,138;ANN=AG|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|7/22|c.797+16dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GGG|GGGG|insertion;p3_1000G_AC=1089;p3_1000G_AF=0.217452;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=19771;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205028823;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=INDEL;ESP6500_AA_AC=240,4026;ESP6500_AA_GTC=8,224,1901;ESP6500_CDS_SIZES=NM_005076.3:3123;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=52;ESP6500_EA_AC=1092,7162;ESP6500_EA_GTC=87,918,3122;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005076.3:intron;ESP6500_GL=CNTN2;ESP6500_GRCh38_POSITION=1:205059695;ESP6500_GTC=95,1142,5023;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005076.3:c.797+13_797+14insG;ESP6500_MAF=13.2299,5.6259,10.639;ESP6500_TAC=1332,11188	GT:AD:DP:GQ:PL	0/1:13,13:26:99:359,0,369
chr1	205061988	rs2229866	C	T	531.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.651;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=0.52;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229866;dbSNPBuildID=98;ANN=T|missense_variant|MODERATE|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|9/23|c.1097C>T|p.Pro366Leu|1366/7670|1097/3123|366/1040||;p3_1000G_AA=C|||;p3_1000G_AC=2760;p3_1000G_AF=0.551118;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=15503;p3_1000G_EAS_AF=0.876;p3_1000G_EUR_AF=0.339;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205031116;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1480,2924;ESP6500_AA_GTC=251,978,973;ESP6500_CDS_SIZES=NM_005076.3:3123;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=17;ESP6500_EA_AC=2953,5641;ESP6500_EA_GTC=552,1849,1896;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005076.3:missense;ESP6500_GL=CNTN2;ESP6500_GRCh38_POSITION=1:205061988;ESP6500_GS=98;ESP6500_GTC=803,2827,2869;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005076.3:c.1097C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005076.3:p.(P366L);ESP6500_MAF=34.3612,33.6058,34.1052;ESP6500_PH=benign:0.029;ESP6500_TAC=4433,8565	GT:AD:DP:GQ:PL	0/1:13,20:33:99:560,0,315
chr1	205064246	rs2305277	T	C	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.059;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.85;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.444;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305277;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|10/22|c.1241-76T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2790;p3_1000G_AF=0.557109;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=13654;p3_1000G_EAS_AF=0.876;p3_1000G_EUR_AF=0.339;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205033374;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,10:25:99:235,0,424
chr1	205065306	rs3901740	G	T	744.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.477;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=1.69;SOR=0.821;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3901740;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|13/22|c.1695+44G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1056;p3_1000G_AF=0.210863;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=17967;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205034434;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=175,4231;ESP6500_AA_AGE=114.2+/-152.2;ESP6500_AA_GTC=1,173,2029;ESP6500_CDS_SIZES=NM_005076.3:3123;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=50;ESP6500_EA_AC=1141,7459;ESP6500_EA_AGE=229.7+/-264.3;ESP6500_EA_GTC=91,959,3250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005076.3:intron;ESP6500_GL=CNTN2;ESP6500_GRCh38_POSITION=1:205065306;ESP6500_GTC=92,1132,5279;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005076.3:c.1695+44G>T;ESP6500_MAF=13.2674,3.9719,10.1184;ESP6500_TAC=1316,11690	GT:AD:DP:GQ:PL	0/1:15,26:41:99:773,0,471
chr1	205069603	rs2305275	C	T	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.869;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=1.15;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305275;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|17/22|c.2196+42C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2902;p3_1000G_AF=0.579473;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=17835;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.7097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205038731;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2397,2009;ESP6500_AA_AGE=538.2+/-374.9;ESP6500_AA_GTC=662,1073,468;ESP6500_CDS_SIZES=NM_005076.3:3123;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=5986,2614;ESP6500_EA_AGE=404.7+/-348.2;ESP6500_EA_GTC=2074,1838,388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005076.3:intron;ESP6500_GL=CNTN2;ESP6500_GRCh38_POSITION=1:205069603;ESP6500_GTC=2736,2911,856;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005076.3:c.2196+42C>T;ESP6500_MAF=30.3953,45.5969,35.5451;ESP6500_TAC=8383,4623	GT:AD:DP:GQ:PL	0/1:8,8:16:99:266,0,285
chr1	205070081	rs4951165	C	A	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.927;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.157;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4951165;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|18/22|c.2431+20C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=641;p3_1000G_AF=0.127995;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=16591;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0.0586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205039209;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=851,3553;ESP6500_AA_GTC=98,655,1449;ESP6500_CDS_SIZES=NM_005076.3:3123;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=20;ESP6500_EA_AC=386,8212;ESP6500_EA_GTC=8,370,3921;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005076.3:intron;ESP6500_GL=CNTN2;ESP6500_GRCh38_POSITION=1:205070081;ESP6500_GTC=106,1025,5370;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005076.3:c.2431+20C>A;ESP6500_MAF=4.4894,19.3233,9.5139;ESP6500_TAC=1237,11765	GT:AD:DP:GQ:PL	0/1:14,12:26:99:334,0,409
chr1	205072030	rs2229868	C	T	2032.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.63;SOR=0.84;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229868;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|20/23|c.2628C>T|p.Ser876Ser|2897/7670|2628/3123|876/1040||;p3_1000G_AA=c|||;p3_1000G_AC=1786;p3_1000G_AF=0.356629;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=17685;p3_1000G_EAS_AF=0.5486;p3_1000G_EUR_AF=0.1988;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205041158;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP;ESP6500_AA_AC=1071,3335;ESP6500_AA_AGE=390.0+/-327.5;ESP6500_AA_GTC=143,785,1275;ESP6500_CDS_SIZES=NM_005076.3:3123;ESP6500_CG=-9.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=94;ESP6500_EA_AC=1829,6771;ESP6500_EA_AGE=327.6+/-317.9;ESP6500_EA_GTC=199,1431,2670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005076.3:coding-synonymous;ESP6500_GL=CNTN2;ESP6500_GRCh38_POSITION=1:205072030;ESP6500_GTC=342,2216,3945;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005076.3:c.2628C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005076.3:p.(S876);ESP6500_MAF=21.2674,24.3078,22.2974;ESP6500_TAC=2900,10106	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2061,213,0
chr1	205072359	rs10664521;rs10665437	A	ATGGG	457.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10664521,rs10665437;dbSNPBuildID=130,129;ANN=ATGGG|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|20/22|c.2732-122_2732-121insGGTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4021;p3_1000G_AF=0.802915;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=19898;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.8479;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205041487;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:33:495,33,0
chr1	205072414	rs3903399	T	C	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.623;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.462;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3903399;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|CNTN2|CNTN2|transcript|NM_005076.3|protein_coding|20/22|c.2732-69T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1349;p3_1000G_AF=0.269369;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18221;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.2058;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205041542;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:399,0,371
chr1	205083811	rs4950979	G	A	1467.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=0.733;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4950979;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|TMEM81|TMEM81|transcript|NM_203376.1|protein_coding|1/1|c.510C>T|p.Leu170Leu|650/1332|510/768|170/255||,A|downstream_gene_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_005057.3|protein_coding||c.*4976C>T|||||2331|,A|downstream_gene_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_001193272.1|protein_coding||c.*4976C>T|||||2331|,A|downstream_gene_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_001193273.1|protein_coding||c.*4976C>T|||||2331|;p3_1000G_AA=A|||;p3_1000G_AC=4000;p3_1000G_AF=0.798722;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.8718;p3_1000G_AN=5008;p3_1000G_DP=21334;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.84;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205052939;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2476,1930;ESP6500_AA_AGE=546.3+/-377.0;ESP6500_AA_GTC=700,1076,427;ESP6500_CDS_SIZES=NM_203376.1:768;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=78;ESP6500_EA_AC=7374,1226;ESP6500_EA_AGE=246.8+/-275.1;ESP6500_EA_GTC=3158,1058,84;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203376.1:coding-synonymous;ESP6500_GL=TMEM81;ESP6500_GRCh38_POSITION=1:205083811;ESP6500_GTC=3858,2134,511;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_203376.1:c.510C>T;ESP6500_HGVS_PROTEIN_VAR=NM_203376.1:p.(L170);ESP6500_MAF=14.2558,43.8039,24.2657;ESP6500_TAC=9850,3156	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,49:49:99:1|1:205083811_G_A:1496,147,0
chr1	205084091	rs4951168	C	T	2818.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=1.218;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4951168;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|TMEM81|TMEM81|transcript|NM_203376.1|protein_coding|1/1|c.230G>A|p.Arg77Gln|370/1332|230/768|77/255||,T|downstream_gene_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_005057.3|protein_coding||c.*4696G>A|||||2051|,T|downstream_gene_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_001193272.1|protein_coding||c.*4696G>A|||||2051|,T|downstream_gene_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_001193273.1|protein_coding||c.*4696G>A|||||2051|;p3_1000G_AA=T|||;p3_1000G_AC=4093;p3_1000G_AF=0.817292;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=21648;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.8489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205053219;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2657,1749;ESP6500_AA_AGE=520.1+/-370.2;ESP6500_AA_GTC=800,1057,346;ESP6500_CDS_SIZES=NM_203376.1:768;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=140;ESP6500_EA_AC=7424,1176;ESP6500_EA_AGE=240.0+/-270.9;ESP6500_EA_GTC=3199,1026,75;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_203376.1:missense;ESP6500_GL=TMEM81;ESP6500_GRCh38_POSITION=1:205084091;ESP6500_GS=43;ESP6500_GTC=3999,2083,421;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_203376.1:c.230G>A;ESP6500_HGVS_PROTEIN_VAR=NM_203376.1:p.(R77Q);ESP6500_MAF=13.6744,39.6959,22.4896;ESP6500_PH=benign:0.0;ESP6500_TAC=10081,2925	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2847,261,0
chr1	205100276	rs11240356	G	A	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.519;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.344;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240356;dbSNPBuildID=120;ANN=A|sequence_feature|MODERATE|RBBP5|RBBP5|modified-residue:phosphoserine|NM_005057.3|protein_coding|6/13|c.633-5C>T||||||,A|sequence_feature|MODERATE|RBBP5|RBBP5|modified-residue:phosphoserine|NM_001193272.1|protein_coding|6/13|c.633-5C>T||||||,A|splice_region_variant&intron_variant|LOW|RBBP5|RBBP5|transcript|NM_005057.3|protein_coding|6/13|c.633-5C>T||||||,A|splice_region_variant&intron_variant|LOW|RBBP5|RBBP5|transcript|NM_001193272.1|protein_coding|6/13|c.633-5C>T||||||,A|splice_region_variant&intron_variant|LOW|RBBP5|RBBP5|transcript|NM_001193273.1|protein_coding|6/13|c.252-5C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1196;p3_1000G_AF=0.238818;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=19752;p3_1000G_EAS_AF=0.4563;p3_1000G_EUR_AF=0.167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205069404;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=199,4207;ESP6500_AA_AGE=125.7+/-162.9;ESP6500_AA_GTC=4,191,2008;ESP6500_CDS_SIZES=NM_005057.3:1617,NM_001193273.1:1233,NM_001193272.1:1503;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=59;ESP6500_EA_AC=1619,6981;ESP6500_EA_AGE=295.0+/-302.2;ESP6500_EA_GTC=157,1305,2838;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005057.3:intron,NM_001193273.1:intron,NM_001193272.1:intron;ESP6500_GL=RBBP5;ESP6500_GRCh38_POSITION=1:205100276;ESP6500_GTC=161,1496,4846;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005057.3:c.633-5C>T,NM_001193273.1:c.252-5C>T,NM_001193272.1:c.633-5C>T;ESP6500_MAF=18.8256,4.5166,13.9782;ESP6500_TAC=1818,11188	GT:AD:DP:GQ:PL	0/1:7,7:14:99:199,0,210
chr1	205100299	rs2050957	C	G	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.377;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.508;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2050957;dbSNPBuildID=94;ANN=G|sequence_feature|MODERATE|RBBP5|RBBP5|modified-residue:phosphoserine|NM_005057.3|protein_coding|6/13|c.633-28G>C||||||,G|sequence_feature|MODERATE|RBBP5|RBBP5|modified-residue:phosphoserine|NM_001193272.1|protein_coding|6/13|c.633-28G>C||||||,G|intron_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_005057.3|protein_coding|6/13|c.633-28G>C||||||,G|intron_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_001193272.1|protein_coding|6/13|c.633-28G>C||||||,G|intron_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_001193273.1|protein_coding|6/13|c.252-28G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=161;p3_1000G_AF=0.0321486;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=19690;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0.0139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205069427;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=111,4295;ESP6500_AA_AGE=85.8+/-124.5;ESP6500_AA_GTC=4,103,2096;ESP6500_CDS_SIZES=NM_005057.3:1617,NM_001193273.1:1233,NM_001193272.1:1503;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=47;ESP6500_EA_AC=154,8446;ESP6500_EA_AGE=73.2+/-135.9;ESP6500_EA_GTC=2,150,4148;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005057.3:intron,NM_001193273.1:intron,NM_001193272.1:intron;ESP6500_GL=RBBP5;ESP6500_GRCh38_POSITION=1:205100299;ESP6500_GTC=6,253,6244;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005057.3:c.633-28G>C,NM_001193273.1:c.252-28G>C,NM_001193272.1:c.633-28G>C;ESP6500_MAF=1.7907,2.5193,2.0375;ESP6500_TAC=265,12741	GT:AD:DP:GQ:PL	0/1:5,4:9:99:143,0,154
chr1	205121977	rs12033568	G	C	827.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.57;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12033568;dbSNPBuildID=120;ANN=C|5_prime_UTR_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_005057.3|protein_coding|1/14|c.-104C>G|||||104|,C|5_prime_UTR_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_001193272.1|protein_coding|1/14|c.-104C>G|||||104|,C|5_prime_UTR_variant|MODIFIER|RBBP5|RBBP5|transcript|NM_001193273.1|protein_coding|1/14|c.-429C>G|||||17980|;p3_1000G_AA=G|||;p3_1000G_AC=1365;p3_1000G_AF=0.272564;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=16782;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.1809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205091105;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:856,63,0
chr1	205147507	rs11367	A	T	746.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11367;dbSNPBuildID=52;ANN=T|3_prime_UTR_variant|MODIFIER|DSTYK|DSTYK|transcript|NM_015375.2|protein_coding|13/13|c.*51T>A|||||51|,T|3_prime_UTR_variant|MODIFIER|DSTYK|DSTYK|transcript|NM_199462.2|protein_coding|12/12|c.*51T>A|||||51|;p3_1000G_AA=A|||;p3_1000G_AC=1367;p3_1000G_AF=0.272963;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=21437;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.1809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205116635;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=337,4069;ESP6500_AA_AGE=177.6+/-206.5;ESP6500_AA_GTC=17,303,1883;ESP6500_CDS_SIZES=NM_199462.2:2655,NM_015375.2:2790;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=66;ESP6500_EA_AC=1771,6829;ESP6500_EA_AGE=318.3+/-313.6;ESP6500_EA_GTC=188,1395,2717;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199462.2:utr-3,NM_015375.2:utr-3;ESP6500_GL=DSTYK;ESP6500_GRCh38_POSITION=1:205147507;ESP6500_GTC=205,1698,4600;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_199462.2:c.*51T>A,NM_015375.2:c.*51T>A;ESP6500_MAF=20.593,7.6487,16.2079;ESP6500_TAC=2108,10898	GT:AD:DP:GQ:PL	1/1:0,26:26:77:775,77,0
chr1	205150853	rs3851295	C	T	936.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.635;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=5.667;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.87;SOR=1.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3851295;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|DSTYK|DSTYK|transcript|NM_015375.2|protein_coding|10/12|c.2353-59G>A||||||,T|intron_variant|MODIFIER|DSTYK|DSTYK|transcript|NM_199462.2|protein_coding|10/11|c.2353-59G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1185;p3_1000G_AF=0.236621;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=23727;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205119981;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,38:58:99:965,0,470
chr1	205161285	rs3851294;260657	A	G	2292.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.39;SOR=1.04;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3851294;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|DSTYK|DSTYK|transcript|NM_015375.2|protein_coding|7/13|c.1921T>C|p.Cys641Arg|1985/7909|1921/2790|641/929||,G|missense_variant|MODERATE|DSTYK|DSTYK|transcript|NM_199462.2|protein_coding|7/12|c.1921T>C|p.Cys641Arg|1985/7774|1921/2655|641/884||;p3_1000G_AA=G|||;p3_1000G_AC=4813;p3_1000G_AF=0.961062;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=17349;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205130413;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4317,89;ESP6500_AA_AGE=73.6+/-111.7;ESP6500_AA_GTC=2116,85,2;ESP6500_CDS_SIZES=NM_199462.2:2655,NM_015375.2:2790;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=103;ESP6500_EA_AC=7781,819;ESP6500_EA_AGE=190.7+/-237.1;ESP6500_EA_GTC=3518,745,37;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199462.2:missense,NM_015375.2:missense;ESP6500_GL=DSTYK;ESP6500_GRCh38_POSITION=1:205161285;ESP6500_GS=180,180;ESP6500_GTC=5634,830,39;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_199462.2:c.1921T>C,NM_015375.2:c.1921T>C;ESP6500_HGVS_PROTEIN_VAR=NM_199462.2:p.(C641R),NM_015375.2:p.(C641R);ESP6500_MAF=9.5233,2.02,6.9814;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12098,908;CLINVAR_ALLELEID=249675;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.205161285A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DSTYK:25778;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3851294	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2321,234,0
chr1	205161931	rs10631913	G	GAC	1876.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=2.208;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10631913;dbSNPBuildID=135;ANN=GAC|intron_variant|MODIFIER|DSTYK|DSTYK|transcript|NM_015375.2|protein_coding|6/12|c.1818+103_1818+104dupGT||||||,GAC|intron_variant|MODIFIER|DSTYK|DSTYK|transcript|NM_199462.2|protein_coding|6/11|c.1818+103_1818+104dupGT||||||;p3_1000G_AC=4649;p3_1000G_AF=0.928315;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=19420;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205131059;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1914,150,0
chr1	205169862	rs76346293	G	A	466.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.552;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.645;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.182;SOR=0.343;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76346293;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|DSTYK|DSTYK|transcript|NM_015375.2|protein_coding|2/12|c.655-30C>T||||||,A|intron_variant|MODIFIER|DSTYK|DSTYK|transcript|NM_199462.2|protein_coding|2/11|c.655-30C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=171;p3_1000G_AF=0.0341454;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=17923;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205138990;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=132,4274;ESP6500_AA_GTC=4,124,2075;ESP6500_CDS_SIZES=NM_199462.2:2655,NM_015375.2:2790;ESP6500_CG=0.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=24;ESP6500_EA_AC=150,8448;ESP6500_EA_GTC=1,148,4150;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199462.2:intron,NM_015375.2:intron;ESP6500_GL=DSTYK;ESP6500_GRCh38_POSITION=1:205169862;ESP6500_GTC=5,272,6225;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_199462.2:c.655-30C>T,NM_015375.2:c.655-30C>T;ESP6500_MAF=1.7446,2.9959,2.1686;ESP6500_TAC=282,12722	GT:AD:DP:GQ:PL	0/1:22,19:41:99:495,0,730
chr1	205211346	rs78212113	G	A	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.098;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.266;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=0.87;SOR=0.439;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78212113;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|DSTYK|DSTYK|transcript|NM_015375.2|protein_coding|1/13|c.190C>T|p.Leu64Phe|254/7909|190/2790|64/929||,A|missense_variant|MODERATE|DSTYK|DSTYK|transcript|NM_199462.2|protein_coding|1/12|c.190C>T|p.Leu64Phe|254/7774|190/2655|64/884||;p3_1000G_AA=G|||;p3_1000G_AC=174;p3_1000G_AF=0.0347444;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=14141;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205180474;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=119,4285;ESP6500_AA_AGE=81.4+/-119.9;ESP6500_AA_GTC=4,111,2087;ESP6500_CDS_SIZES=NM_199462.2:2655,NM_015375.2:2790;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=27;ESP6500_EA_AC=161,8439;ESP6500_EA_AGE=71.6+/-134.2;ESP6500_EA_GTC=1,159,4140;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199462.2:missense,NM_015375.2:missense;ESP6500_GL=DSTYK;ESP6500_GRCh38_POSITION=1:205211346;ESP6500_GS=22,22;ESP6500_GTC=5,270,6227;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_199462.2:c.190C>T,NM_015375.2:c.190C>T;ESP6500_HGVS_PROTEIN_VAR=NM_199462.2:p.(L64F),NM_015375.2:p.(L64F);ESP6500_MAF=1.8721,2.7021,2.1532;ESP6500_PH=benign:0.027,benign:0.027;ESP6500_TAC=280,12724	GT:AD:DP:GQ:PL	0/1:17,23:40:99:678,0,497
chr1	205228680	rs112979653	C	T	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.083;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=-0.288;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112979653;dbSNPBuildID=132;ANN=T|missense_variant|MODERATE|TMCC2|TMCC2|transcript|NM_014858.3|protein_coding|1/5|c.116C>T|p.Thr39Met|771/4004|116/2130|39/709||,T|upstream_gene_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001242925.1|protein_coding||c.-12852C>T|||||251|;p3_1000G_AA=C|||;p3_1000G_AC=176;p3_1000G_AF=0.0351438;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=13502;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205197808;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=119,4285;ESP6500_AA_AGE=81.9+/-120.4;ESP6500_AA_GTC=3,113,2086;ESP6500_CDS_SIZES=NM_014858.3:2130;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=26;ESP6500_EA_AC=161,8435;ESP6500_EA_AGE=72.3+/-134.9;ESP6500_EA_GTC=1,159,4138;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014858.3:missense;ESP6500_GL=TMCC2;ESP6500_GRCh38_POSITION=1:205228680;ESP6500_GS=81;ESP6500_GTC=4,272,6224;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014858.3:c.116C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014858.3:p.(T39M);ESP6500_MAF=1.873,2.7021,2.1538;ESP6500_PH=benign:0.004;ESP6500_TAC=280,12720	GT:AD:DP:GQ:PL	0/1:16,11:27:99:252,0,402
chr1	205257160	rs1172113	T	C	118.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.76;ReadPosRankSum=1.28;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1172113;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_014858.3|protein_coding|2/4|c.748-11790T>C||||||,C|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001242925.1|protein_coding|2/4|c.514-11790T>C||||||,C|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001297611.1|protein_coding|1/3|c.72+10469T>C||||||,C|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001297613.1|protein_coding|1/3|c.27+744T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=974;p3_1000G_AF=0.194489;p3_1000G_AFR_AF=0.1467;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=13788;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205226288;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:24:147,0,24
chr1	205271013	rs1668868	G	T	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=-0.674;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1668868;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_014858.3|protein_coding|3/4|c.1683-107G>T||||||,T|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001242925.1|protein_coding|3/4|c.1449-107G>T||||||,T|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001297611.1|protein_coding|2/3|c.1008-107G>T||||||,T|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001297613.1|protein_coding|2/3|c.963-107G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1637;p3_1000G_AF=0.326877;p3_1000G_AFR_AF=0.556;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=22913;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205240141;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,6:10:99:0|1:205271013_G_T:240,0,281
chr1	205271017	rs1768584	A	G	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.939;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=-1.383;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1768584;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_014858.3|protein_coding|3/4|c.1683-103A>G||||||,G|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001242925.1|protein_coding|3/4|c.1449-103A>G||||||,G|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001297611.1|protein_coding|2/3|c.1008-103A>G||||||,G|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001297613.1|protein_coding|2/3|c.963-103A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=924;p3_1000G_AF=0.184505;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=22553;p3_1000G_EAS_AF=0.1071;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205240145;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,6:10:99:0|1:205271013_G_T:240,0,281
chr1	205271785	rs9659978	A	G	1945.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=1.078;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9659978;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_014858.3|protein_coding|4/4|c.1819-28A>G||||||,G|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001242925.1|protein_coding|4/4|c.1585-28A>G||||||,G|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001297611.1|protein_coding|3/3|c.1144-28A>G||||||,G|intron_variant|MODIFIER|TMCC2|TMCC2|transcript|NM_001297613.1|protein_coding|3/3|c.1099-28A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4816;p3_1000G_AF=0.961661;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=17739;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205240913;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4318,88;ESP6500_AA_AGE=67.6+/-105.2;ESP6500_AA_GTC=2117,84,2;ESP6500_CDS_SIZES=NM_014858.3:2130,NM_001242925.1:1896;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=26;ESP6500_EA_AC=7793,807;ESP6500_EA_AGE=178.6+/-228.0;ESP6500_EA_GTC=3531,731,38;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014858.3:intron,NM_001242925.1:intron;ESP6500_GL=TMCC2;ESP6500_GRCh38_POSITION=1:205271785;ESP6500_GTC=5648,815,40;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014858.3:c.1819-28A>G,NM_001242925.1:c.1585-28A>G;ESP6500_MAF=9.3837,1.9973,6.8814;ESP6500_TAC=12111,895	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1974,195,0
chr1	205303798	rs1106201	C	T	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.922;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.134;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=1.07;SOR=0.489;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1106201;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|NUAK2|NUAK2|transcript|NM_030952.2|protein_coding|7/7|c.1671G>A|p.Leu557Leu|1702/3437|1671/2019|557/672||;p3_1000G_AA=C|||;p3_1000G_AC=1618;p3_1000G_AF=0.323083;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=16669;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.2962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205272926;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=693,3713;ESP6500_AA_AGE=270.1+/-269.4;ESP6500_AA_GTC=54,585,1564;ESP6500_CDS_SIZES=NM_030952.1:1887;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=50;ESP6500_EA_AC=2561,6037;ESP6500_EA_AGE=397.3+/-345.7;ESP6500_EA_GTC=382,1797,2120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030952.1:coding-synonymous;ESP6500_GL=NUAK2;ESP6500_GRCh38_POSITION=1:205303798;ESP6500_GTC=436,2382,3684;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_030952.1:c.1539G>A;ESP6500_HGVS_PROTEIN_VAR=NM_030952.1:p.(L513);ESP6500_MAF=29.786,15.7286,25.0231;ESP6500_TAC=3254,9750	GT:AD:DP:GQ:PL	0/1:29,19:48:99:445,0,783
chr1	205303855	rs1106202	C	G	572.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.525;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.347;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.169;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1106202;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|NUAK2|NUAK2|transcript|NM_030952.2|protein_coding|7/7|c.1614G>C|p.Leu538Leu|1645/3437|1614/2019|538/672||;p3_1000G_AA=C|||;p3_1000G_AC=1615;p3_1000G_AF=0.322484;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=17689;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.2952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205272983;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=691,3715;ESP6500_AA_AGE=285.5+/-278.2;ESP6500_AA_GTC=53,585,1565;ESP6500_CDS_SIZES=NM_030952.1:1887;ESP6500_CG=1.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=49;ESP6500_EA_AC=2548,6052;ESP6500_EA_AGE=408.5+/-349.5;ESP6500_EA_GTC=380,1788,2132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030952.1:coding-synonymous;ESP6500_GL=NUAK2;ESP6500_GRCh38_POSITION=1:205303855;ESP6500_GTC=433,2373,3697;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_030952.1:c.1482G>C;ESP6500_HGVS_PROTEIN_VAR=NM_030952.1:p.(L494);ESP6500_MAF=29.6279,15.6832,24.9039;ESP6500_TAC=3239,9767	GT:AD:DP:GQ:PL	0/1:31,23:54:99:601,0,918
chr1	205306293	rs4951197	A	G	1407.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.89;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4951197;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|NUAK2|NUAK2|transcript|NM_030952.2|protein_coding|5/7|c.717T>C|p.Gly239Gly|748/3437|717/2019|239/672||;p3_1000G_AA=G|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=17893;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205275421;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4147,259;ESP6500_AA_AGE=148.0+/-182.4;ESP6500_AA_GTC=1955,237,11;ESP6500_CDS_SIZES=NM_030952.1:1887;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=110;ESP6500_EA_AC=8592,8;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=4292,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030952.1:coding-synonymous;ESP6500_GL=NUAK2;ESP6500_GRCh38_POSITION=1:205306293;ESP6500_GTC=6247,245,11;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_030952.1:c.585T>C;ESP6500_HGVS_PROTEIN_VAR=NM_030952.1:p.(G195);ESP6500_MAF=0.093,5.8783,2.0529;ESP6500_TAC=12739,267	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1436,120,0
chr1	205306376	rs138150875	G	A	472.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.684;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.133;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.028;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138150875;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|NUAK2|NUAK2|transcript|NM_030952.2|protein_coding|4/6|c.703-69C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=29;p3_1000G_AF=0.00579073;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17520;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205275504;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,21:33:99:501,0,292
chr1	205337462	rs3210952	G	A	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.577;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-2.501;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3210952;dbSNPBuildID=105;ANN=A|synonymous_variant|LOW|KLHDC8A|KLHDC8A|transcript|NM_001271863.1|protein_coding|9/9|c.990C>T|p.Ala330Ala|1859/3256|990/1053|330/350||,A|synonymous_variant|LOW|KLHDC8A|KLHDC8A|transcript|NM_018203.2|protein_coding|6/6|c.990C>T|p.Ala330Ala|1647/3044|990/1053|330/350||,A|synonymous_variant|LOW|KLHDC8A|KLHDC8A|transcript|NM_001271864.1|protein_coding|7/7|c.990C>T|p.Ala330Ala|1319/2716|990/1053|330/350||,A|synonymous_variant|LOW|KLHDC8A|KLHDC8A|transcript|NM_001271865.1|protein_coding|8/8|c.990C>T|p.Ala330Ala|1534/2931|990/1053|330/350||;p3_1000G_AA=g|||;p3_1000G_AC=894;p3_1000G_AF=0.178514;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=19856;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.2127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205306590;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=203,4203;ESP6500_AA_AGE=126.6+/-163.6;ESP6500_AA_GTC=1,201,2001;ESP6500_CDS_SIZES=NM_018203.1:1053;ESP6500_CG=-10.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=184;ESP6500_EA_AC=1604,6996;ESP6500_EA_AGE=299.3+/-304.4;ESP6500_EA_GTC=151,1302,2847;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018203.1:coding-synonymous;ESP6500_GL=KLHDC8A;ESP6500_GRCh38_POSITION=1:205337462;ESP6500_GTC=152,1503,4848;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018203.1:c.990C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018203.1:p.(A330);ESP6500_MAF=18.6512,4.6074,13.8936;ESP6500_TAC=1807,11199	GT:AD:DP:GQ:PL	0/1:20,14:34:99:339,0,525
chr1	205343152	rs7549293	C	G	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.806;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=-2.085;SOR=0.856;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7549293;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|KLHDC8A|KLHDC8A|transcript|NM_001271863.1|protein_coding|5/8|c.376+77G>C||||||,G|intron_variant|MODIFIER|KLHDC8A|KLHDC8A|transcript|NM_018203.2|protein_coding|2/5|c.376+77G>C||||||,G|intron_variant|MODIFIER|KLHDC8A|KLHDC8A|transcript|NM_001271864.1|protein_coding|3/6|c.376+77G>C||||||,G|intron_variant|MODIFIER|KLHDC8A|KLHDC8A|transcript|NM_001271865.1|protein_coding|4/7|c.376+77G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3125;p3_1000G_AF=0.624002;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=18843;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.5467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205312280;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,19:32:99:532,0,338
chr1	205343639	rs7526603	G	T	222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.023;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.25;ReadPosRankSum=0.349;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7526603;dbSNPBuildID=116;ANN=T|5_prime_UTR_variant|MODIFIER|KLHDC8A|KLHDC8A|transcript|NM_001271863.1|protein_coding|5/9|c.-35C>A|||||35|,T|5_prime_UTR_variant|MODIFIER|KLHDC8A|KLHDC8A|transcript|NM_018203.2|protein_coding|2/6|c.-35C>A|||||35|,T|5_prime_UTR_variant|MODIFIER|KLHDC8A|KLHDC8A|transcript|NM_001271864.1|protein_coding|3/7|c.-35C>A|||||35|,T|5_prime_UTR_variant|MODIFIER|KLHDC8A|KLHDC8A|transcript|NM_001271865.1|protein_coding|4/8|c.-35C>A|||||35|;p3_1000G_AA=G|||;p3_1000G_AC=1599;p3_1000G_AF=0.319289;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=12294;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205312767;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=808,2964;ESP6500_AA_GTC=139,530,1217;ESP6500_CDS_SIZES=NM_018203.1:1053;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=7;ESP6500_EA_AC=2846,4940;ESP6500_EA_GTC=600,1646,1647;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018203.1:utr-5;ESP6500_GL=KLHDC8A;ESP6500_GRCh38_POSITION=1:205343639;ESP6500_GTC=739,2176,2864;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018203.1:c.-35C>A;ESP6500_MAF=36.5528,21.421,31.6145;ESP6500_TAC=3654,7904	GT:AD:DP:GQ:PL	0/1:4,7:11:99:251,0,133
chr1	205384364	rs2274702	A	C	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.382;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=-0.046;SOR=0.263;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274702;dbSNPBuildID=100;ANN=C|missense_variant&splice_region_variant|MODERATE|LEMD1|LEMD1|transcript|NM_001199050.1|protein_coding|5/6|c.271T>G|p.Trp91Gly|406/960|271/546|91/181||,C|missense_variant&splice_region_variant|MODERATE|LEMD1|LEMD1|transcript|NM_001199051.1|protein_coding|4/5|c.148T>G|p.Trp50Gly|283/837|148/423|50/140||,C|splice_region_variant&non_coding_transcript_exon_variant|LOW|LEMD1|LEMD1|transcript|NR_037583.1|pseudogene|3/4|n.218T>G||||||,C|intron_variant|MODIFIER|LEMD1-AS1|LEMD1-AS1|transcript|NR_038425.1|pseudogene|3/3|n.574-869A>C||||||,C|intron_variant|MODIFIER|LEMD1|LEMD1|transcript|NM_001001552.4|protein_coding|3/3|c.206-2508T>G||||||,C|intron_variant|MODIFIER|LEMD1|LEMD1|transcript|NM_001199052.1|protein_coding|2/2|c.83-2508T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=361;p3_1000G_AF=0.0720847;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=19063;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.0915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205353492;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,12:34:99:293,0,585
chr1	205416370	rs6688045	C	T	897.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=3.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6688045;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LEMD1|LEMD1|transcript|NM_001199050.1|protein_coding|3/5|c.206-74G>A||||||,T|intron_variant|MODIFIER|LEMD1|LEMD1|transcript|NM_001001552.4|protein_coding|3/3|c.205+2860G>A||||||,T|intron_variant|MODIFIER|LEMD1|LEMD1|transcript|NM_001199051.1|protein_coding|2/4|c.83-74G>A||||||,T|intron_variant|MODIFIER|LEMD1|LEMD1|transcript|NM_001199052.1|protein_coding|2/2|c.82+4085G>A||||||,T|intron_variant|MODIFIER|LEMD1|LEMD1|transcript|NR_037583.1|pseudogene|2/3|n.217+4085G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4057;p3_1000G_AF=0.810104;p3_1000G_AFR_AF=0.5272;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=20783;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205385498;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:926,75,0
chr1	205523628	rs7529442	A	G	1048.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.17;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=6.475;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=-0.032;SOR=1.816;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7529442;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|CDK18|CDK18|transcript|NM_002596.3|protein_coding|3/15|c.273+3A>G||||||,G|splice_region_variant&intron_variant|LOW|CDK18|CDK18|transcript|NM_212502.2|protein_coding|3/15|c.273+3A>G||||||,G|synonymous_variant|LOW|CDK18|CDK18|transcript|NM_212503.2|protein_coding|3/16|c.276A>G|p.Val92Val|538/3192|276/1515|92/504||;p3_1000G_AA=G|||;p3_1000G_AC=4614;p3_1000G_AF=0.921326;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=14937;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.9642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205492756;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4114,230;ESP6500_AA_GTC=1950,214,8;ESP6500_CDS_SIZES=NM_212503.2:1515,NM_212502.2:1425,NM_002596.3:1425;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=19;ESP6500_EA_AC=8239,293;ESP6500_EA_GTC=3979,281,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212503.2:coding-synonymous,NM_212502.2:intron,NM_002596.3:intron;ESP6500_GL=CDK18;ESP6500_GRCh38_POSITION=1:205523628;ESP6500_GTC=5929,495,14;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_212503.2:c.276A>G,NM_212502.2:c.273+3A>G,NM_002596.3:c.273+3A>G;ESP6500_HGVS_PROTEIN_VAR=NM_212503.2:p.(V92),.,.;ESP6500_MAF=3.4341,5.2947,4.0618;ESP6500_TAC=12353,523	GT:AD:DP:GQ:PL	0/1:25,32:57:99:1077,0,634
chr1	205526264	rs2297837	A	G	415.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.44;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=3;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.036;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297837;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|6/15|c.661+85A>G||||||,G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|6/15|c.571+85A>G||||||,G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|6/15|c.571+85A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4491;p3_1000G_AF=0.896765;p3_1000G_AFR_AF=0.8669;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=18563;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205495392;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,14:50:99:444,0,1012
chr1	205528893	rs7531230	T	C	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=0.792;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7531230;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|10/15|c.1065-106T>C||||||,C|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|10/15|c.975-106T>C||||||,C|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|10/15|c.975-106T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3186;p3_1000G_AF=0.636182;p3_1000G_AFR_AF=0.6271;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=14258;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205498021;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:66:145,0,66
chr1	205529215	rs4951235	C	G	388.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.543;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.279;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371333022,rs4951235;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|11/15|c.1163-109C>G||||||,G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|11/15|c.1073-109C>G||||||,G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|11/15|c.1073-109C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=750;p3_1000G_AF=0.14976;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=13154;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.0716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205498343;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,14:26:99:417,0,364
chr1	205530227	rs12042887	C	A	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.417;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.301;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.343;SOR=0.459;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12042887;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|13/15|c.1312-32C>A||||||,A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|13/15|c.1222-32C>A||||||,A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|13/15|c.1222-32C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1420;p3_1000G_AF=0.283546;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=17708;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205499355;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=924,3482;ESP6500_AA_AGE=327.7+/-300.2;ESP6500_AA_GTC=96,732,1375;ESP6500_CDS_SIZES=NM_212503.2:1515,NM_212502.2:1425,NM_002596.3:1425;ESP6500_CG=0.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=34;ESP6500_EA_AC=1170,7430;ESP6500_EA_AGE=233.2+/-266.6;ESP6500_EA_GTC=94,982,3224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212503.2:intron,NM_212502.2:intron,NM_002596.3:intron;ESP6500_GL=CDK18;ESP6500_GRCh38_POSITION=1:205530227;ESP6500_GTC=190,1714,4599;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_212503.2:c.1312-32C>A,NM_212502.2:c.1222-32C>A,NM_002596.3:c.1222-32C>A;ESP6500_MAF=13.6047,20.9714,16.1003;ESP6500_TAC=2094,10912	GT:AD:DP:GQ:PL	0/1:16,20:36:99:536,0,462
chr1	205530367	rs12035825	G	A	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.061;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.865;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12035825;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|14/15|c.1402+18G>A||||||,A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|14/15|c.1312+18G>A||||||,A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|14/15|c.1312+18G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1176;p3_1000G_AF=0.234824;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=16818;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.1223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205499495;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=721,3685;ESP6500_AA_AGE=297.0+/-284.5;ESP6500_AA_GTC=47,627,1529;ESP6500_CDS_SIZES=NM_212503.2:1515,NM_212502.2:1425,NM_002596.3:1425;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=52;ESP6500_EA_AC=971,7629;ESP6500_EA_AGE=210.8+/-251.6;ESP6500_EA_GTC=69,833,3398;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212503.2:intron,NM_212502.2:intron,NM_002596.3:intron;ESP6500_GL=CDK18;ESP6500_GRCh38_POSITION=1:205530367;ESP6500_GTC=116,1460,4927;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_212503.2:c.1402+18G>A,NM_212502.2:c.1312+18G>A,NM_002596.3:c.1312+18G>A;ESP6500_MAF=11.2907,16.364,13.0094;ESP6500_TAC=1692,11314	GT:AD:DP:GQ:PL	0/1:21,16:37:99:371,0,551
chr1	205530449	rs6668356	C	G	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.748;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=1.07;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6668356;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|14/15|c.1402+100C>G||||||,G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|14/15|c.1312+100C>G||||||,G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|14/15|c.1312+100C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2850;p3_1000G_AF=0.569089;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=17292;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205499577;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:217,0,180
chr1	205530467	rs41264891	G	A	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.087;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.32;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41264891;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|14/15|c.1402+118G>A||||||,A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|14/15|c.1312+118G>A||||||,A|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|14/15|c.1312+118G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1212;p3_1000G_AF=0.242013;p3_1000G_AFR_AF=0.2005;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=17435;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.1223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205499595;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:171,0,153
chr1	205530483	rs41264893	C	T	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.972;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.136;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41264893;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|14/15|c.1402+134C>T||||||,T|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|14/15|c.1312+134C>T||||||,T|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|14/15|c.1312+134C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1398;p3_1000G_AF=0.279153;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=17611;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205499611;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:224,0,137
chr1	205530573	rs12748821	T	C	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.2;ReadPosRankSum=1.01;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12748821;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|14/15|c.1403-55T>C||||||,C|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|14/15|c.1313-55T>C||||||,C|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|14/15|c.1313-55T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1399;p3_1000G_AF=0.279353;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=17822;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205499701;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=276,1108;ESP6500_AA_GTC=22,232,438;ESP6500_CDS_SIZES=NM_212503.2:1515,NM_212502.2:1425,NM_002596.3:1425;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=43;ESP6500_EA_AC=465,2717;ESP6500_EA_GTC=36,393,1162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212503.2:intron,NM_212502.2:intron,NM_002596.3:intron;ESP6500_GL=CDK18;ESP6500_GRCh38_POSITION=1:205530573;ESP6500_GTC=58,625,1600;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_212503.2:c.1403-55T>C,NM_212502.2:c.1313-55T>C,NM_002596.3:c.1313-55T>C;ESP6500_MAF=14.6135,19.9422,16.2286;ESP6500_TAC=741,3825	GT:AD:DP:GQ:PL	0/1:6,13:19:87:393,0,87
chr1	205530793	rs11240505	C	G	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240505;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212503.2|protein_coding|15/15|c.1480+88C>G||||||,G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_002596.3|protein_coding|15/15|c.1390+88C>G||||||,G|intron_variant|MODIFIER|CDK18|CDK18|transcript|NM_212502.2|protein_coding|15/15|c.1390+88C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1180;p3_1000G_AF=0.235623;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=15964;p3_1000G_EAS_AF=0.3016;p3_1000G_EUR_AF=0.1233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205499921;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:68:68,0,117
chr1	205584218	rs201629112	ATTTTTTTT	A	245.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.34;ReadPosRankSum=-0.179;SOR=1.27;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201629112;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|MFSD4A|MFSD4A|transcript|NM_181644.4|protein_coding|4/9|c.859+108_859+115delTTTTTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,7:11:99:283,0,173
chr1	205586017	rs7531623	G	A	247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.197;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.541;SOR=0.098;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7531623;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MFSD4A|MFSD4A|transcript|NM_181644.4|protein_coding|5/9|c.976-17G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2093;p3_1000G_AF=0.417931;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=18261;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.4235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205555145;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2217,2189;ESP6500_AA_AGE=582.7+/-385.6;ESP6500_AA_GTC=571,1075,557;ESP6500_CDS_SIZES=NM_181644.4:1545;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=34;ESP6500_EA_AC=3773,4827;ESP6500_EA_AGE=611.3+/-395.8;ESP6500_EA_GTC=806,2161,1333;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181644.4:intron;ESP6500_GL=MFSD4;ESP6500_GRCh38_POSITION=1:205586017;ESP6500_GTC=1377,3236,1890;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181644.4:c.976-17G>A;ESP6500_MAF=43.8721,49.6823,46.0557;ESP6500_TAC=5990,7016	GT:AD:DP:GQ:PL	0/1:6,11:17:99:276,0,169
chr1	205599085	rs2282449	C	T	1055.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2282449;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MFSD4A|MFSD4A|transcript|NM_181644.4|protein_coding|8/9|c.1369-46C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1769;p3_1000G_AF=0.353235;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=20707;p3_1000G_EAS_AF=0.6399;p3_1000G_EUR_AF=0.1849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205568213;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=677,3729;ESP6500_AA_AGE=288.7+/-280.0;ESP6500_AA_GTC=60,557,1586;ESP6500_CDS_SIZES=NM_181644.4:1545;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=249;ESP6500_EA_AC=1891,6709;ESP6500_EA_AGE=336.9+/-322.1;ESP6500_EA_GTC=215,1461,2624;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181644.4:intron;ESP6500_GL=MFSD4;ESP6500_GRCh38_POSITION=1:205599085;ESP6500_GTC=275,2018,4210;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181644.4:c.1369-46C>T;ESP6500_MAF=21.9884,15.3654,19.7447;ESP6500_TAC=2568,10438	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1084,110,0
chr1	205599262	rs2282450	T	A	1091.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2282450;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MFSD4A|MFSD4A|transcript|NM_181644.4|protein_coding|9/9|c.1489+11T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2223;p3_1000G_AF=0.44389;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=18505;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.2157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205568390;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1785,2621;ESP6500_AA_AGE=642.1+/-397.6;ESP6500_AA_GTC=349,1087,767;ESP6500_CDS_SIZES=NM_181644.4:1545;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=164;ESP6500_EA_AC=2071,6529;ESP6500_EA_AGE=718.3+/-406.2;ESP6500_EA_GTC=264,1543,2493;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181644.4:intron;ESP6500_GL=MFSD4;ESP6500_GRCh38_POSITION=1:205599262;ESP6500_GTC=613,2630,3260;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_181644.4:c.1489+11T>A;ESP6500_MAF=24.0814,40.5129,29.6479;ESP6500_TAC=3856,9150	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1120,114,0
chr1	205599310	rs2282451;rs71582041	G	T	701.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71582041,rs2282451;dbSNPBuildID=130,100;ANN=T|intron_variant|MODIFIER|MFSD4A|MFSD4A|transcript|NM_181644.4|protein_coding|9/9|c.1489+59G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1760;p3_1000G_AF=0.351438;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=19046;p3_1000G_EAS_AF=0.6399;p3_1000G_EUR_AF=0.1859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205568438;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:730,69,0
chr1	205620446	rs1064406	C	T	845.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.241;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=3.37;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.893;SOR=0.943;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1064406;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|ELK4|ELK4|transcript|NM_001973.3|protein_coding|3/5|c.600G>A|p.Pro200Pro|1850/11149|600/1296|200/431||,T|synonymous_variant|LOW|ELK4|ELK4|transcript|NM_021795.2|protein_coding|3/3|c.600G>A|p.Pro200Pro|1850/3028|600/1218|200/405||;p3_1000G_AA=C|||;p3_1000G_AC=981;p3_1000G_AF=0.195887;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=19202;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205589574;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=574,3832;ESP6500_AA_AGE=257.0+/-261.6;ESP6500_AA_GTC=45,484,1674;ESP6500_CDS_SIZES=NM_021795.2:1218,NM_001973.3:1296;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=75;ESP6500_EA_AC=780,7820;ESP6500_EA_AGE=184.2+/-232.2;ESP6500_EA_GTC=37,706,3557;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021795.2:coding-synonymous,NM_001973.3:coding-synonymous;ESP6500_GL=ELK4;ESP6500_GRCh38_POSITION=1:205620446;ESP6500_GTC=82,1190,5231;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021795.2:c.600G>A,NM_001973.3:c.600G>A;ESP6500_HGVS_PROTEIN_VAR=NM_021795.2:p.(P200),NM_001973.3:p.(P200);ESP6500_MAF=9.0698,13.0277,10.4106;ESP6500_TAC=1354,11652	GT:AD:DP:GQ:PL	0/1:32,33:65:99:874,0,838
chr1	205623570	rs34310773	C	T	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.16;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.745;SOR=0.072;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34310773;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|ELK4|ELK4|transcript|NM_001973.3|protein_coding|2/4|c.207+106G>A||||||,T|intron_variant|MODIFIER|ELK4|ELK4|transcript|NM_021795.2|protein_coding|2/2|c.207+106G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=984;p3_1000G_AF=0.196486;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=18576;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205592698;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:308,0,344
chr1	205661765	rs3761916	A	G	775.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.367;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=0.502;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3761916;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SLC45A3|SLC45A3|transcript|NM_033102.2|protein_coding|4/4|c.1224+96T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1740;p3_1000G_AF=0.347444;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=19058;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.2555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205630893;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,26:41:99:804,0,419
chr1	205663804	rs11240547	A	G	522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.167;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=6.227;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.738;SOR=0.134;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240547;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SLC45A3|SLC45A3|transcript|NM_033102.2|protein_coding|2/4|c.173-186T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1712;p3_1000G_AF=0.341853;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=23705;p3_1000G_EAS_AF=0.4454;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205632932;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,20:38:99:551,0,523
chr1	205770268	rs823139	T	G	546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs823139;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|RAB29|RAB29|transcript|NM_001135662.1|protein_coding|6/6|c.*74A>C|||||74|,G|3_prime_UTR_variant|MODIFIER|RAB29|RAB29|transcript|NM_001135663.1|protein_coding|4/4|c.*74A>C|||||74|,G|3_prime_UTR_variant|MODIFIER|RAB29|RAB29|transcript|NM_001135664.1|protein_coding|5/5|c.*74A>C|||||74|,G|3_prime_UTR_variant|MODIFIER|RAB29|RAB29|transcript|NM_003929.2|protein_coding|6/6|c.*74A>C|||||74|;p3_1000G_AA=T|||;p3_1000G_AC=3611;p3_1000G_AF=0.721046;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=20074;p3_1000G_EAS_AF=0.8462;p3_1000G_EUR_AF=0.8579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205739396;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:575,48,0
chr1	205772688	rs823142	A	T	147.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.64;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs823142;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|RAB29|RAB29|transcript|NM_001135662.1|protein_coding|2/5|c.125-121T>A||||||,T|intron_variant|MODIFIER|RAB29|RAB29|transcript|NM_001135663.1|protein_coding|1/3|c.125-1035T>A||||||,T|intron_variant|MODIFIER|RAB29|RAB29|transcript|NM_001135664.1|protein_coding|1/4|c.-92-121T>A||||||,T|intron_variant|MODIFIER|RAB29|RAB29|transcript|NM_003929.2|protein_coding|2/5|c.125-121T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4126;p3_1000G_AF=0.823882;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.8458;p3_1000G_AN=5008;p3_1000G_DP=16339;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.9672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205741816;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:176,18,0
chr1	205842700	rs4951025	A	T	1903.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=0.822;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4951025;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|PM20D1|PM20D1|transcript|NM_152491.4|protein_coding|7/13|c.879T>A|p.Thr293Thr|955/2183|879/1509|293/502||,T|non_coding_transcript_exon_variant|MODIFIER|PM20D1|PM20D1|transcript|NR_135186.1|pseudogene|7/12|n.955T>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1425;p3_1000G_AF=0.284545;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=22567;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.1352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205811828;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1618,2788;ESP6500_AA_GTC=313,992,898;ESP6500_CDS_SIZES=NM_152491.4:1509;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=122;ESP6500_EA_AC=1150,7450;ESP6500_EA_GTC=76,998,3226;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152491.4:coding-synonymous;ESP6500_GL=PM20D1;ESP6500_GRCh38_POSITION=1:205842700;ESP6500_GTC=389,1990,4124;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_152491.4:c.879T>A;ESP6500_HGVS_PROTEIN_VAR=NM_152491.4:p.(T293);ESP6500_MAF=13.3721,36.7227,21.2825;ESP6500_TAC=2768,10238	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1932,192,0
chr1	205845357	rs1104899	G	A	1165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.186;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=4.826;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=2.34;SOR=0.316;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1104899;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|PM20D1|PM20D1|transcript|NM_152491.4|protein_coding|3/13|c.457C>T|p.Arg153Trp|533/2183|457/1509|153/502||,A|non_coding_transcript_exon_variant|MODIFIER|PM20D1|PM20D1|transcript|NR_135186.1|pseudogene|3/12|n.533C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1251;p3_1000G_AF=0.2498;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=19480;p3_1000G_EAS_AF=0.255;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205814485;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=895,3511;ESP6500_AA_AGE=346.2+/-308.9;ESP6500_AA_GTC=80,735,1388;ESP6500_CDS_SIZES=NM_152491.4:1509;ESP6500_CG=4.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=100;ESP6500_EA_AC=2145,6455;ESP6500_EA_AGE=368.8+/-335.2;ESP6500_EA_GTC=247,1651,2402;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152491.4:missense;ESP6500_GL=PM20D1;ESP6500_GRCh38_POSITION=1:205845357;ESP6500_GS=101;ESP6500_GTC=327,2386,3790;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152491.4:c.457C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152491.4:p.(R153W);ESP6500_MAF=24.9419,20.3132,23.3738;ESP6500_PH=probably-damaging:0.996;ESP6500_TAC=3040,9966	GT:AD:DP:GQ:PGT:PID:PL	0/1:38,32:70:99:0|1:205845357_G_A:1194,0,2283
chr1	205845369	rs1891460	T	C	1163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.863;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=6.202;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.802;SOR=0.37;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1891460;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|PM20D1|PM20D1|transcript|NM_152491.4|protein_coding|3/13|c.445A>G|p.Ile149Val|521/2183|445/1509|149/502||,C|non_coding_transcript_exon_variant|MODIFIER|PM20D1|PM20D1|transcript|NR_135186.1|pseudogene|3/12|n.521A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4199;p3_1000G_AF=0.838458;p3_1000G_AFR_AF=0.8744;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=19135;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.9344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205814497;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3895,511;ESP6500_AA_AGE=236.1+/-248.4;ESP6500_AA_GTC=1715,465,23;ESP6500_CDS_SIZES=NM_152491.4:1509;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=101;ESP6500_EA_AC=8135,465;ESP6500_EA_AGE=137.5+/-194.4;ESP6500_EA_GTC=3845,445,10;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152491.4:missense;ESP6500_GL=PM20D1;ESP6500_GRCh38_POSITION=1:205845369;ESP6500_GS=29;ESP6500_GTC=5560,910,33;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152491.4:c.445A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152491.4:p.(I149V);ESP6500_MAF=5.407,11.5978,7.5042;ESP6500_PH=benign:0.0;ESP6500_TAC=12030,976	GT:AD:DP:GQ:PGT:PID:PL	0/1:42,33:75:99:0|1:205845357_G_A:1192,0,2379
chr1	205915518	rs113527464;rs1491168730	C	CTG	94.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.319;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10689324,rs113527464;dbSNPBuildID=151,132;ANN=CTG|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|20/21|c.2329-116_2329-115dupCA||||||,CTG|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|20/20|c.2329-116_2329-115dupCA||||||	GT:AD:DP:GQ:PL	0/1:2,6:8:28:132,0,28
chr1	205917253	rs11240591	C	T	553.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.491;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.142;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=2.07;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240591;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|20/21|c.2328+30G>A||||||,T|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|20/20|c.2328+30G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1096;p3_1000G_AF=0.21885;p3_1000G_AFR_AF=0.0613;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=16311;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.1243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205886381;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=320,4086;ESP6500_AA_AGE=172.3+/-202.3;ESP6500_AA_GTC=12,296,1895;ESP6500_CDS_SIZES=NM_134325.2:2664,NM_052934.3:2376;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=189;ESP6500_EA_AC=879,7721;ESP6500_EA_AGE=199.3+/-243.4;ESP6500_EA_GTC=56,767,3477;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_134325.2:intron,NM_052934.3:intron;ESP6500_GL=SLC26A9;ESP6500_GRCh38_POSITION=1:205917253;ESP6500_GTC=68,1063,5372;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_134325.2:c.2328+30G>A,NM_052934.3:c.2328+30G>A;ESP6500_MAF=10.2209,7.2628,9.2188;ESP6500_TAC=1199,11807	GT:AD:DP:GQ:PL	0/1:25,24:49:99:582,0,644
chr1	205919015	rs11240593	G	C	556.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.423;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=1.44;SOR=1.14;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240593;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|18/21|c.2111-30C>G||||||,C|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|18/20|c.2111-30C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1092;p3_1000G_AF=0.218051;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=21062;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.1252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205888143;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=311,4095;ESP6500_AA_AGE=168.0+/-198.9;ESP6500_AA_GTC=12,287,1904;ESP6500_CDS_SIZES=NM_134325.2:2664,NM_052934.3:2376;ESP6500_CG=3.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=124;ESP6500_EA_AC=893,7707;ESP6500_EA_AGE=201.0+/-244.6;ESP6500_EA_GTC=58,777,3465;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_134325.2:intron,NM_052934.3:intron;ESP6500_GL=SLC26A9;ESP6500_GRCh38_POSITION=1:205919015;ESP6500_GTC=70,1064,5369;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_134325.2:c.2111-30C>G,NM_052934.3:c.2111-30C>G;ESP6500_MAF=10.3837,7.0586,9.2573;ESP6500_TAC=1204,11802	GT:AD:DP:GQ:PL	0/1:17,19:36:99:585,0,436
chr1	205921551	rs12759719;403454	T	C	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.629;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.037;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.418;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12759719;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|17/21|c.2055+15A>G||||||,C|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|17/20|c.2055+15A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4578;p3_1000G_AF=0.914137;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=17696;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.8926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205890679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9448;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4042,364;ESP6500_AA_GTC=1857,328,18;ESP6500_CDS_SIZES=NM_134325.2:2664,NM_052934.3:2376;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=21;ESP6500_EA_AC=7719,881;ESP6500_EA_GTC=3460,799,41;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_134325.2:intron,NM_052934.3:intron;ESP6500_GL=SLC26A9;ESP6500_GRCh38_POSITION=1:205921551;ESP6500_GTC=5317,1127,59;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_134325.2:c.2055+15A>G,NM_052934.3:c.2055+15A>G;ESP6500_MAF=10.2442,8.2615,9.5725;ESP6500_TAC=11761,1245;CLINVAR_ALLELEID=389371;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.205921551T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SLC26A9:115019;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12759719	GT:AD:DP:GQ:PL	0/1:19,14:33:99:319,0,436
chr1	205923283	rs3811427	T	C	945.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=0.895;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.119;SOR=0.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811427;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|15/21|c.1659+52A>G||||||,C|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|15/20|c.1659+52A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1062;p3_1000G_AF=0.212061;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=17766;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205892411;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=206,2930;ESP6500_AA_GTC=6,194,1368;ESP6500_CDS_SIZES=NM_134325.2:2664,NM_052934.3:2376;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=79;ESP6500_EA_AC=631,6533;ESP6500_EA_GTC=33,565,2984;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_134325.2:intron,NM_052934.3:intron;ESP6500_GL=SLC26A9;ESP6500_GRCh38_POSITION=1:205923283;ESP6500_GTC=39,759,4352;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_134325.2:c.1659+52A>G,NM_052934.3:c.1659+52A>G;ESP6500_MAF=8.8079,6.5689,8.1262;ESP6500_TAC=837,9463	GT:AD:DP:GQ:PGT:PID:PL	0/1:49,28:77:99:0|1:205923283_T_C:974,0,3024
chr1	205923287	rs3811426	C	T	923.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.434;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.783;SOR=0.619;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811426;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|15/21|c.1659+48G>A||||||,T|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|15/20|c.1659+48G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1063;p3_1000G_AF=0.21226;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=17963;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205892415;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=284,4122;ESP6500_AA_AGE=800.0+/-415.5;ESP6500_AA_GTC=6,272,1925;ESP6500_CDS_SIZES=NM_134325.2:2664,NM_052934.3:2376;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=72;ESP6500_EA_AC=746,7854;ESP6500_EA_AGE=785.2+/-407.6;ESP6500_EA_GTC=40,666,3594;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_134325.2:intron,NM_052934.3:intron;ESP6500_GL=SLC26A9;ESP6500_GRCh38_POSITION=1:205923287;ESP6500_GTC=46,938,5519;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_134325.2:c.1659+48G>A,NM_052934.3:c.1659+48G>A;ESP6500_MAF=8.6744,6.4458,7.9194;ESP6500_TAC=1030,11976	GT:AD:DP:GQ:PGT:PID:PL	0/1:50,26:76:99:0|1:205923283_T_C:952,0,3027
chr1	205924571	rs9438402	T	C	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=1.14;SOR=2.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9438402;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|12/21|c.1390-82A>G||||||,C|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|12/20|c.1390-82A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1069;p3_1000G_AF=0.213458;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=21915;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205893699;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:99:133,0,187
chr1	205924625	rs34907090;rs397790611	AT	A	36.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.792;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.25;ReadPosRankSum=0;SOR=0.495;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34907090;dbSNPBuildID=134,138;ANN=A|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|12/21|c.1390-137delA||||||,A|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|12/20|c.1390-137delA||||||;p3_1000G_AA=TTTTT|TTTTTT|TTTTT|insertion;p3_1000G_AC=1464;p3_1000G_AF=0.292332;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=21034;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205893753;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,3:7:74:74,0,106
chr1	205927107	rs11240594	G	A	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.028;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.211;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240594;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|11/21|c.1293+104C>T||||||,A|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|11/20|c.1293+104C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1444;p3_1000G_AF=0.288339;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=22511;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205896235;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,12:22:99:321,0,365
chr1	205927347	rs7366204	C	T	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.272;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-2.304;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7366204;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|10/21|c.1216-59G>A||||||,T|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|10/20|c.1216-59G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4360;p3_1000G_AF=0.870607;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=19179;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.8897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205896475;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:311,0,362
chr1	205928748	rs12568779	C	T	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.2;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=8.931;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.784;SOR=2.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12568779;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_134325.2|protein_coding|8/21|c.953+79G>A||||||,T|intron_variant|MODIFIER|SLC26A9|SLC26A9|transcript|NM_052934.3|protein_coding|8/20|c.953+79G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1054;p3_1000G_AF=0.210463;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=18556;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205897876;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,17:36:99:476,0,490
chr1	205984127	rs878961933	T	C	1419.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=2.777;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.039;SOR=0.988;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|5/5|c.522+1413A>G||||||,C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|4/4|c.522+1413A>G||||||,C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.397-5199A>G||||||	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1448,0,907
chr1	205984165	rs36180704	G	T	700.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.886;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=5.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-1.902;SOR=1.154;SNP;HET;VARTYPE=SNP;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|5/5|c.522+1375C>A||||||,T|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|4/4|c.522+1375C>A||||||,T|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.397-5237C>A||||||	GT:AD:DP:GQ:PL	0/1:53,31:84:99:729,0,1454
chr1	205985674	rs1207121887	G	A	627.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.859;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.687;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=2.01;SOR=0.361;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|4/5|c.397-9C>T||||||,A|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|3/4|c.397-9C>T||||||,A|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.397-6746C>T||||||	GT:AD:DP:GQ:PL	0/1:22,24:46:99:656,0,640
chr1	205985751	rs1332517761	T	C	476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|4/5|c.397-86A>G||||||,C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|3/4|c.397-86A>G||||||,C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.396+6729A>G||||||	GT:AD:DP:GQ:PL	1/1:0,12:12:36:505,36,0
chr1	205985755	rs1441906564	GCCCACCATCCCCACCATCCCCATCATC	G	106.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.366;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.465;SOR=0.105;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|4/5|c.397-117_397-91delGATGATGGGGATGGTGGGGATGGTGGG||||||,G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|3/4|c.397-117_397-91delGATGATGGGGATGGTGGGGATGGTGGG||||||,G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.396+6698_396+6724delGATGATGGGGATGGTGGGGATGGTGGG||||||	GT:AD:DP:GQ:PL	0/1:5,4:9:99:144,0,197
chr1	205985763	rs1393004380	T	G	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.508;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.75;ReadPosRankSum=2.66;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|4/5|c.397-98A>C||||||,G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|3/4|c.397-98A>C||||||,G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.396+6717A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,5:9:99:0|1:205985763_T_G:197,0,144
chr1	205985764	rs1372818413	C	G	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.75;ReadPosRankSum=2.66;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|4/5|c.397-99G>C||||||,G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|3/4|c.397-99G>C||||||,G|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.396+6716G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,5:9:99:0|1:205985763_T_G:197,0,144
chr1	205985778	rs1480202927	T	C	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.819;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.75;ReadPosRankSum=2.26;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|4/5|c.397-113A>G||||||,C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|3/4|c.397-113A>G||||||,C|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.396+6702A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,5:9:99:0|1:205985763_T_G:197,0,144
chr1	205985784	rs1378448331	C	CCACCAGGCT	159.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.847;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.75;SOR=2.303;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=CCACCAGGCT|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001164522.2|protein_coding|4/5|c.397-120_397-119insAGCCTGGTG||||||,CCACCAGGCT|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_177403.5|protein_coding|3/4|c.397-120_397-119insAGCCTGGTG||||||,CCACCAGGCT|intron_variant|MODIFIER|RAB7B|RAB7B|transcript|NM_001304839.1|protein_coding|4/4|c.396+6695_396+6696insAGCCTGGTG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,5:9:99:0|1:205985763_T_G:197,0,144
chr1	206101060	rs28523378	C	T	762.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.574;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=4.083;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-1.469;SOR=1.383;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28523378;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|C1orf186|C1orf186|transcript|NM_001007544.3|protein_coding|4/5|c.257-76C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1005;p3_1000G_AF=0.200679;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=19701;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.0686;p3_1000G_GRCH37_POS=206240271;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,30:53:99:791,0,696
chr1	206101757	rs28391411	A	G	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.187;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.757;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28391411;dbSNPBuildID=125;ANN=G|synonymous_variant|LOW|C1orf186|C1orf186|transcript|NM_001007544.3|protein_coding|6/6|c.324A>G|p.Thr108Thr|963/1665|324/519|108/172||;p3_1000G_AA=t|||;p3_1000G_AC=1000;p3_1000G_AF=0.199681;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=20620;p3_1000G_EAS_AF=0.0744;p3_1000G_EUR_AF=0.0646;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=206239574;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,15:31:99:374,0,416
chr1	206101916	rs28639473	G	A	668.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.549;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=6.457;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.742;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28639473;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|C1orf186|C1orf186|transcript|NM_001007544.3|protein_coding|6/6|c.483G>A|p.Leu161Leu|1122/1665|483/519|161/172||;p3_1000G_AA=C|||;p3_1000G_AC=391;p3_1000G_AF=0.0780751;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=20370;p3_1000G_EAS_AF=0.0744;p3_1000G_EUR_AF=0.0626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=206239415;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,28:48:99:697,0,593
chr1	206101928	rs28602496	G	A	566.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.058;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=8.917;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.601;SOR=0.135;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28602496;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|C1orf186|C1orf186|transcript|NM_001007544.3|protein_coding|6/6|c.495G>A|p.Ala165Ala|1134/1665|495/519|165/172||;p3_1000G_AA=C|||;p3_1000G_AC=547;p3_1000G_AF=0.109225;p3_1000G_AFR_AF=0.1218;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=19829;p3_1000G_EAS_AF=0.0744;p3_1000G_EUR_AF=0.0626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=206239403;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,25:46:99:595,0,591
chr1	206430185	rs2297539	G	A	919.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.091;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.295;SOR=0.854;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297539;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|SRGAP2|SRGAP2|transcript|NM_015326.4|protein_coding|13/22|c.1518G>A|p.Leu506Leu|2060/6781|1518/3216|506/1071||,A|synonymous_variant|LOW|SRGAP2|SRGAP2|transcript|NM_001300952.1|protein_coding|13/20|c.1515G>A|p.Leu505Leu|2057/4917|1515/2370|505/789||,A|synonymous_variant|LOW|SRGAP2|SRGAP2|transcript|NM_001170637.3|protein_coding|13/22|c.1515G>A|p.Leu505Leu|2057/6778|1515/3213|505/1070||;p3_1000G_AA=G|||;p3_1000G_AC=2629;p3_1000G_AF=0.52496;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=20669;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.4334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206603535;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1538,2264;ESP6500_AA_GTC=305,928,668;ESP6500_CDS_SIZES=NM_015326.2:2959,NM_001170637.1:2956,NM_001042758.1:2254;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=174;ESP6500_EA_AC=3731,4527;ESP6500_EA_GTC=848,2035,1246;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015326.2:coding-synonymous,NM_001170637.1:coding-synonymous,NM_001042758.1:coding-synonymous;ESP6500_GL=SRGAP2;ESP6500_GRCh38_POSITION=1:206430185;ESP6500_GTC=1153,2963,1914;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015326.2:c.1261G>A,NM_001170637.1:c.1258G>A,NM_001042758.1:c.1261G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015326.2:p.(G506),NM_001170637.1:p.(G505),NM_001042758.1:p.(G506);ESP6500_MAF=45.1804,40.4524,43.6899;ESP6500_TAC=5269,6791	GT:AD:DP:GQ:PL	0/1:22,39:61:99:948,0,541
chr1	206450340	rs12725078	T	G	1006.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=3.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.087;SOR=1.197;SNP;HET;VARTYPE=SNP;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_015326.4|protein_coding|17/21|c.2100-46T>G||||||,G|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_001300952.1|protein_coding|17/19|c.2097-46T>G||||||,G|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_001170637.3|protein_coding|17/21|c.2097-46T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2168;p3_1000G_AF=0.43290700000000004;p3_1000G_AFR_AF=0.5053000000000001;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=20930;p3_1000G_EAS_AF=0.6457999999999999;p3_1000G_EUR_AF=0.26439999999999997;p3_1000G_GRCH37_POS=206623685;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1035,0,957
chr1	206450521	rs11809494	T	C	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.019;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_015326.4|protein_coding|18/21|c.2179+56T>C||||||,C|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_001300952.1|protein_coding|18/19|c.2176+56T>C||||||,C|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_001170637.3|protein_coding|18/21|c.2176+56T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3168;p3_1000G_AF=0.6325879999999999;p3_1000G_AFR_AF=0.7171000000000001;p3_1000G_AMR_AF=0.5993999999999999;p3_1000G_AN=5008;p3_1000G_DP=18927;p3_1000G_EAS_AF=0.7292000000000001;p3_1000G_EUR_AF=0.47319999999999995;p3_1000G_GRCH37_POS=206623866;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6063000000000001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,18:37:99:474,0,523
chr1	206453261	rs11120575	A	G	639.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.28;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.484;SOR=0.666;SNP;HET;VARTYPE=SNP;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|SRGAP2|SRGAP2|transcript|NM_015326.4|protein_coding|19/22|c.2241A>G|p.Leu747Leu|2783/6781|2241/3216|747/1071||,G|synonymous_variant|LOW|SRGAP2|SRGAP2|transcript|NM_001300952.1|protein_coding|19/20|c.2238A>G|p.Leu746Leu|2780/4917|2238/2370|746/789||,G|synonymous_variant|LOW|SRGAP2|SRGAP2|transcript|NM_001170637.3|protein_coding|19/22|c.2238A>G|p.Leu746Leu|2780/6778|2238/3213|746/1070||;p3_1000G_AA=G|||;p3_1000G_AC=3275;p3_1000G_AF=0.6539539999999999;p3_1000G_AFR_AF=0.8011;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=18024;p3_1000G_EAS_AF=0.7292000000000001;p3_1000G_EUR_AF=0.46619999999999995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=206626607;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,22:51:99:668,0,651
chr1	206453433	rs2483059	G	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.349;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_015326.4|protein_coding|19/21|c.2360+53G>A||||||,A|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_001300952.1|protein_coding|19/19|c.2357+53G>A||||||,A|intron_variant|MODIFIER|SRGAP2|SRGAP2|transcript|NM_001170637.3|protein_coding|19/21|c.2357+53G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1641;p3_1000G_AF=0.32767599999999997;p3_1000G_AFR_AF=0.21409999999999996;p3_1000G_AMR_AF=0.37029999999999996;p3_1000G_AN=5008;p3_1000G_DP=14517;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.18489999999999995;p3_1000G_GRCH37_POS=206626779;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:150,0,147
chr1	206474444	rs1539243	T	C	872.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1539243;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|IKBKE|IKBKE|transcript|NM_014002.3|protein_coding|4/22|c.201T>C|p.Ile67Ile|779/3474|201/2151|67/716||,C|synonymous_variant|LOW|IKBKE|IKBKE|transcript|NM_001193322.1|protein_coding|4/21|c.201T>C|p.Ile67Ile|779/3361|201/1974|67/657||,C|5_prime_UTR_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193321.1|protein_coding|3/21|c.-55T>C|||||448|,C|upstream_gene_variant|MODIFIER|MIR6769B|MIR6769B|transcript|NR_106919.1|pseudogene||n.-359T>C|||||359|;p3_1000G_AA=C|||;p3_1000G_AC=4503;p3_1000G_AF=0.899161;p3_1000G_AFR_AF=0.8797;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=20227;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206647787;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3833,573;ESP6500_AA_AGE=255.5+/-260.7;ESP6500_AA_GTC=1666,501,36;ESP6500_CDS_SIZES=NM_014002.3:2151,NM_001193322.1:1974,NM_001193321.1:1896;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=66;ESP6500_EA_AC=7169,1431;ESP6500_EA_AGE=275.3+/-291.7;ESP6500_EA_GTC=2995,1179,126;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014002.3:coding-synonymous,NM_001193322.1:coding-synonymous,NM_001193321.1:utr-5;ESP6500_GL=IKBKE;ESP6500_GRCh38_POSITION=1:206474444;ESP6500_GTC=4661,1680,162;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014002.3:c.201T>C,NM_001193322.1:c.201T>C,NM_001193321.1:c.-448T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014002.3:p.(I67),NM_001193322.1:p.(I67),.;ESP6500_MAF=16.6395,13.005,15.4083;ESP6500_TAC=11002,2004	GT:AD:DP:GQ:PL	1/1:0,27:27:81:901,81,0
chr1	206474694	rs2297546	C	G	105.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297546;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|MIR6769B|MIR6769B|transcript|NR_106919.1|pseudogene||n.-109C>G|||||109|,G|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_014002.3|protein_coding|4/21|c.229-171C>G||||||,G|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193321.1|protein_coding|3/20|c.-27-171C>G||||||,G|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193322.1|protein_coding|4/20|c.229-171C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3197;p3_1000G_AF=0.638379;p3_1000G_AFR_AF=0.8502;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=18578;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206648037;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:133,12,0
chr1	206475035	rs1059704	G	A	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.573;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=0.355;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1059704;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|MIR6769B|MIR6769B|transcript|NR_106919.1|pseudogene||n.*171G>A|||||171|,A|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_014002.3|protein_coding|5/21|c.358+41G>A||||||,A|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193321.1|protein_coding|4/20|c.103+41G>A||||||,A|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193322.1|protein_coding|5/20|c.358+41G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2546;p3_1000G_AF=0.508387;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=18477;p3_1000G_EAS_AF=0.3532;p3_1000G_EUR_AF=0.6809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206648378;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6391;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1850,2556;ESP6500_AA_AGE=634.3+/-396.2;ESP6500_AA_GTC=385,1080,738;ESP6500_CDS_SIZES=NM_014002.3:2151,NM_001193322.1:1974,NM_001193321.1:1896;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=77;ESP6500_EA_AC=5918,2682;ESP6500_EA_AGE=429.8+/-356.3;ESP6500_EA_GTC=2045,1828,427;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014002.3:intron,NM_001193322.1:intron,NM_001193321.1:intron;ESP6500_GL=IKBKE;ESP6500_GRCh38_POSITION=1:206475035;ESP6500_GTC=2430,2908,1165;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014002.3:c.358+41G>A,NM_001193322.1:c.358+41G>A,NM_001193321.1:c.103+41G>A;ESP6500_MAF=31.186,41.9882,40.2737;ESP6500_TAC=7768,5238	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,8:20:99:0|1:206475031_C_A:153,0,323
chr1	206477764	rs2297545	G	A	609.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297545;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|IKBKE|IKBKE|transcript|NM_014002.3|protein_coding|8/22|c.717G>A|p.Thr239Thr|1295/3474|717/2151|239/716||,A|synonymous_variant|LOW|IKBKE|IKBKE|transcript|NM_001193321.1|protein_coding|7/21|c.462G>A|p.Thr154Thr|1176/3355|462/1896|154/631||,A|synonymous_variant|LOW|IKBKE|IKBKE|transcript|NM_001193322.1|protein_coding|8/21|c.717G>A|p.Thr239Thr|1295/3361|717/1974|239/657||,A|downstream_gene_variant|MODIFIER|MIR6769B|MIR6769B|transcript|NR_106919.1|pseudogene||n.*2900G>A|||||2900|;p3_1000G_AA=G|||;p3_1000G_AC=1580;p3_1000G_AF=0.315495;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=15713;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.2286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206651107;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=716,3650;ESP6500_AA_GTC=56,604,1523;ESP6500_CDS_SIZES=NM_014002.3:2151,NM_001193322.1:1974,NM_001193321.1:1896;ESP6500_CG=-9.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=13;ESP6500_EA_AC=1791,6755;ESP6500_EA_GTC=176,1439,2658;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014002.3:coding-synonymous,NM_001193322.1:coding-synonymous,NM_001193321.1:coding-synonymous;ESP6500_GL=IKBKE;ESP6500_GRCh38_POSITION=1:206477764;ESP6500_GTC=232,2043,4181;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014002.3:c.717G>A,NM_001193322.1:c.717G>A,NM_001193321.1:c.462G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014002.3:p.(T239),NM_001193322.1:p.(T239),NM_001193321.1:p.(T154);ESP6500_MAF=20.9572,16.3995,19.416;ESP6500_TAC=2507,10405	GT:AD:DP:GQ:PL	1/1:0,22:22:66:638,66,0
chr1	206480621	rs1218057294	TC	T	616.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=2.093;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_014002.3|protein_coding|13/21|c.1427+93delC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193321.1|protein_coding|12/20|c.1172+93delC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193322.1|protein_coding|13/20|c.1427+93delC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,20:20:60:654,60,0
chr1	206491719	rs12059562	C	T	809.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.19;SOR=0.521;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12059562;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|IKBKE|IKBKE|transcript|NM_014002.3|protein_coding|18/22|c.1805C>T|p.Ala602Val|2383/3474|1805/2151|602/716||,T|missense_variant|MODERATE|IKBKE|IKBKE|transcript|NM_001193321.1|protein_coding|17/21|c.1550C>T|p.Ala517Val|2264/3355|1550/1896|517/631||,T|missense_variant|MODERATE|IKBKE|IKBKE|transcript|NM_001193322.1|protein_coding|18/21|c.1805C>T|p.Ala602Val|2383/3361|1805/1974|602/657||;p3_1000G_AA=C|||;p3_1000G_AC=1159;p3_1000G_AF=0.23143;p3_1000G_AFR_AF=0.2534;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=22562;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.0099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206665052;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1037,3369;ESP6500_AA_AGE=382.5+/-324.5;ESP6500_AA_GTC=125,787,1291;ESP6500_CDS_SIZES=NM_014002.3:2151,NM_001193322.1:1974,NM_001193321.1:1896;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=105;ESP6500_EA_AC=24,8576;ESP6500_EA_AGE=18.5+/-59.3;ESP6500_EA_GTC=0,24,4276;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014002.3:missense,NM_001193322.1:missense,NM_001193321.1:missense;ESP6500_GL=IKBKE;ESP6500_GRCh38_POSITION=1:206491719;ESP6500_GS=64,64,64;ESP6500_GTC=125,811,5567;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014002.3:c.1805C>T,NM_001193322.1:c.1805C>T,NM_001193321.1:c.1550C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014002.3:p.(A602V),NM_001193322.1:p.(A602V),NM_001193321.1:p.(A517V);ESP6500_MAF=0.2791,23.5361,8.1578;ESP6500_PH=benign:0.011,benign:0.011,benign:0.011;ESP6500_TAC=1061,11945	GT:AD:DP:GQ:PL	0/1:27,34:61:99:838,0,615
chr1	206493401	rs12026566	T	G	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.705;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.656;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12026566;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_014002.3|protein_coding|20/21|c.2045+23T>G||||||,G|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193321.1|protein_coding|19/20|c.1790+23T>G||||||,G|intron_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193322.1|protein_coding|19/20|c.1932+282T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1468;p3_1000G_AF=0.293131;p3_1000G_AFR_AF=0.3782;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=19438;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206666734;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1520,2886;ESP6500_AA_GTC=266,988,949;ESP6500_CDS_SIZES=NM_014002.3:2151,NM_001193322.1:1974,NM_001193321.1:1896;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=25;ESP6500_EA_AC=2440,6160;ESP6500_EA_GTC=322,1796,2182;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014002.3:intron,NM_001193322.1:intron,NM_001193321.1:intron;ESP6500_GL=IKBKE;ESP6500_GRCh38_POSITION=1:206493401;ESP6500_GTC=588,2784,3131;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014002.3:c.2045+23T>G,NM_001193322.1:c.1932+282T>G,NM_001193321.1:c.1790+23T>G;ESP6500_MAF=28.3721,34.4984,30.4475;ESP6500_TAC=3960,9046	GT:AD:DP:GQ:PL	0/1:14,20:34:99:528,0,364
chr1	206496132	rs3748022	C	T	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.75;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.671;SOR=1.041;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748022;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|IKBKE|IKBKE|transcript|NM_014002.3|protein_coding|22/22|c.2138C>T|p.Pro713Leu|2716/3474|2138/2151|713/716||,T|missense_variant|MODERATE|IKBKE|IKBKE|transcript|NM_001193321.1|protein_coding|21/21|c.1883C>T|p.Pro628Leu|2597/3355|1883/1896|628/631||,T|3_prime_UTR_variant|MODIFIER|IKBKE|IKBKE|transcript|NM_001193322.1|protein_coding|21/21|c.*51C>T|||||2171|;p3_1000G_AA=C|||;p3_1000G_AC=742;p3_1000G_AF=0.148163;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=22926;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.2326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206669465;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0644;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=195,4211;ESP6500_AA_AGE=122.9+/-160.3;ESP6500_AA_GTC=7,181,2015;ESP6500_CDS_SIZES=NM_014002.3:2151,NM_001193322.1:1974,NM_001193321.1:1896;ESP6500_CG=3.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=116;ESP6500_EA_AC=1876,6724;ESP6500_EA_AGE=335.6+/-321.5;ESP6500_EA_GTC=182,1512,2606;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014002.3:missense,NM_001193322.1:utr-3,NM_001193321.1:missense;ESP6500_GL=IKBKE;ESP6500_GRCh38_POSITION=1:206496132;ESP6500_GS=98,.,98;ESP6500_GTC=189,1693,4621;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014002.3:c.2138C>T,NM_001193322.1:c.*2171C>T,NM_001193321.1:c.1883C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014002.3:p.(P713L),.,NM_001193321.1:p.(P628L);ESP6500_MAF=21.814,4.4258,15.9234;ESP6500_PH=benign:0.03,.,benign:0.03;ESP6500_TAC=2071,10935	GT:AD:DP:GQ:PL	0/1:15,15:30:99:324,0,366
chr1	206507650	rs2095124	A	C	530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2095124;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|RASSF5|RASSF5|transcript|NM_182663.3|protein_coding|1/6|c.48A>C|p.Leu16Leu|121/3636|48/1257|16/418||,C|synonymous_variant|LOW|RASSF5|RASSF5|transcript|NM_182664.3|protein_coding|1/5|c.48A>C|p.Leu16Leu|121/3520|48/1011|16/336||;p3_1000G_AA=C|||;p3_1000G_AC=4776;p3_1000G_AF=0.953674;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=9108;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206680983;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2879,81;ESP6500_AA_GTC=1400,79,1;ESP6500_CDS_SIZES=NM_182664.2:1011,NM_182663.2:1257;ESP6500_CG=0.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=3;ESP6500_EA_AC=5574,982;ESP6500_EA_GTC=2366,842,70;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182664.2:coding-synonymous,NM_182663.2:coding-synonymous;ESP6500_GL=RASSF5;ESP6500_GRCh38_POSITION=1:206507650;ESP6500_GTC=3766,921,71;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_182664.2:c.48A>C,NM_182663.2:c.48A>C;ESP6500_HGVS_PROTEIN_VAR=NM_182664.2:p.(L16),NM_182663.2:p.(L16);ESP6500_MAF=14.9786,2.7365,11.1707;ESP6500_TAC=8453,1063	GT:AD:DP:GQ:PL	1/1:0,19:19:57:559,57,0
chr1	206581295	rs1930436	T	C	525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182663.3|protein_coding|2/5|c.580-1974T>C||||||,C|intron_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182664.3|protein_coding|2/4|c.580-1974T>C||||||,C|intron_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182665.3|protein_coding|1/4|c.121-1974T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4471;p3_1000G_AF=0.892772;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.8991;p3_1000G_AN=5008;p3_1000G_DP=18971;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.8221;p3_1000G_GRCH37_POS=206754627;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:554,51,0
chr1	206584525	rs4845112	C	A	681.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.269;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0.975;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.53;SOR=0.902;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845112;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|RASSF5|RASSF5|transcript|NM_182663.3|protein_coding|4/6|c.829C>A|p.Arg277Arg|902/3636|829/1257|277/418||,A|synonymous_variant|LOW|RASSF5|RASSF5|transcript|NM_182664.3|protein_coding|4/5|c.829C>A|p.Arg277Arg|902/3520|829/1011|277/336||,A|synonymous_variant|LOW|RASSF5|RASSF5|transcript|NM_182665.3|protein_coding|3/5|c.370C>A|p.Arg124Arg|780/3514|370/798|124/265||;p3_1000G_AA=C|||;p3_1000G_AC=539;p3_1000G_AF=0.107628;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=17694;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206757857;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=556,3850;ESP6500_AA_AGE=251.2+/-258.0;ESP6500_AA_GTC=29,498,1676;ESP6500_CDS_SIZES=NM_182665.2:798,NM_182664.2:1011,NM_182663.2:1257;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=143;ESP6500_EA_AC=487,8113;ESP6500_EA_AGE=141.1+/-197.5;ESP6500_EA_GTC=14,459,3827;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182665.2:coding-synonymous,NM_182664.2:coding-synonymous,NM_182663.2:coding-synonymous;ESP6500_GL=RASSF5;ESP6500_GRCh38_POSITION=1:206584525;ESP6500_GTC=43,957,5503;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_182665.2:c.370C>A,NM_182664.2:c.829C>A,NM_182663.2:c.829C>A;ESP6500_HGVS_PROTEIN_VAR=NM_182665.2:p.(R124),NM_182664.2:p.(R277),NM_182663.2:p.(R277);ESP6500_MAF=5.6628,12.6192,8.0194;ESP6500_TAC=1043,11963	GT:AD:DP:GQ:PL	0/1:31,28:59:99:710,0,906
chr1	206593506	rs1286437460	A	AGTGTGTGTGTGCGTGTGT	121.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.29;ReadPosRankSum=0.189;SOR=0.693;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=AGTGTGTGTGTGCGTGTGT|downstream_gene_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182663.3|protein_coding||c.*6528_*6529insGTGTGTGTGTGCGTGTGT|||||4223|,AGTGTGTGTGTGCGTGTGT|downstream_gene_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182664.3|protein_coding||c.*6658_*6659insGTGTGTGTGTGCGTGTGT|||||4223|,AGTGTGTGTGTGCGTGTGT|downstream_gene_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182665.3|protein_coding||c.*6528_*6529insGTGTGTGTGTGCGTGTGT|||||4223|,AGTGTGTGTGTGCGTGTGT|intron_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_006893.2|protein_coding|14/14|c.1684+112_1684+113insACACACGCACACACACAC||||||,AGTGTGTGTGTGCGTGTGT|intron_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_001201478.1|protein_coding|12/12|c.1312+112_1312+113insACACACGCACACACACAC||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,3:6:99:0|1:206593506_A_AGTGTGTGTGTGCGTGTGT:159,0,631
chr1	206593508	rs75706892	A	T	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=-0.328;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75706892;dbSNPBuildID=131;ANN=T|downstream_gene_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182663.3|protein_coding||c.*6530A>T|||||4224|,T|downstream_gene_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182664.3|protein_coding||c.*6660A>T|||||4224|,T|downstream_gene_variant|MODIFIER|RASSF5|RASSF5|transcript|NM_182665.3|protein_coding||c.*6530A>T|||||4224|,T|intron_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_006893.2|protein_coding|14/14|c.1684+111T>A||||||,T|intron_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_001201478.1|protein_coding|12/12|c.1312+111T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:99:0|1:206593506_A_AGTGTGTGTGTGCGTGTGT:159,0,631
chr1	206595698	rs11584983	T	C	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.796;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=11.572;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-2.69;SOR=0.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11584983;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_006893.2|protein_coding|13/14|c.1509+20A>G||||||,C|intron_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_001201478.1|protein_coding|11/12|c.1137+20A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1295;p3_1000G_AF=0.258586;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=19883;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206769047;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1352,3054;ESP6500_AA_AGE=450.2+/-349.3;ESP6500_AA_GTC=211,930,1062;ESP6500_CDS_SIZES=NM_006893.2:1755,NM_001201478.1:1383;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=124;ESP6500_EA_AC=2212,6388;ESP6500_EA_AGE=377.0+/-338.4;ESP6500_EA_GTC=278,1656,2366;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006893.2:intron,NM_001201478.1:intron;ESP6500_GL=EIF2D;ESP6500_GRCh38_POSITION=1:206595698;ESP6500_GTC=489,2586,3428;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006893.2:c.1509+20A>G,NM_001201478.1:c.1137+20A>G;ESP6500_MAF=25.7209,30.6854,27.4027;ESP6500_TAC=3564,9442	GT:AD:DP:GQ:PL	0/1:15,18:33:99:445,0,411
chr1	206605289	rs4077413	A	C	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=-0.875;SOR=0.175;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4077413;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_006893.2|protein_coding|5/14|c.530+111T>G||||||,C|intron_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_001201478.1|protein_coding|5/12|c.530+111T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1313;p3_1000G_AF=0.262181;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=19589;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.2594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206778642;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:60:280,0,60
chr1	206612413	rs1207940687	T	G	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.12;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.563;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.214;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|5_prime_UTR_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_006893.2|protein_coding|1/15|c.-71A>C|||||71|,G|5_prime_UTR_variant|MODIFIER|EIF2D|EIF2D|transcript|NM_001201478.1|protein_coding|1/13|c.-71A>C|||||71|	GT:AD:DP:GQ:PL	0/1:16,11:27:99:334,0,418
chr1	206637601	rs17013271	C	T	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.293;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-1.559;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17013271;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|DYRK3|DYRK3|transcript|NM_003582.2|protein_coding|1/2|c.78-49C>T||||||,T|intron_variant|MODIFIER|DYRK3|DYRK3|transcript|NM_001004023.1|protein_coding|2/3|c.18-49C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1528;p3_1000G_AF=0.305112;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=19253;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206810946;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1376,3030;ESP6500_AA_AGE=677.3+/-403.4;ESP6500_AA_GTC=224,928,1051;ESP6500_CDS_SIZES=NM_003582.2:1767,NM_001004023.1:1707;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=40;ESP6500_EA_AC=3428,5172;ESP6500_EA_AGE=621.0+/-397.1;ESP6500_EA_GTC=686,2056,1558;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003582.2:intron,NM_001004023.1:intron;ESP6500_GL=DYRK3;ESP6500_GRCh38_POSITION=1:206637601;ESP6500_GTC=910,2984,2609;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003582.2:c.78-49C>T,NM_001004023.1:c.18-49C>T;ESP6500_MAF=39.8605,31.2301,36.9368;ESP6500_TAC=4804,8202	GT:AD:DP:GQ:PL	0/1:9,12:21:99:312,0,250
chr1	206647192	rs4845123	G	A	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.524;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4845123;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|DYRK3|DYRK3|transcript|NM_003582.2|protein_coding|2/2|c.190-196G>A||||||,A|intron_variant|MODIFIER|DYRK3|DYRK3|transcript|NM_001004023.1|protein_coding|3/3|c.130-196G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=851;p3_1000G_AF=0.169928;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=19232;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206820537;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:57:57,0,71
chr1	206731119	rs10863805	C	T	915.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.454;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0.877;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.37;SOR=0.862;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10863805;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MAPKAPK2|MAPKAPK2|transcript|NM_032960.3|protein_coding|6/9|c.768-19C>T||||||,T|intron_variant|MODIFIER|MAPKAPK2|MAPKAPK2|transcript|NM_004759.4|protein_coding|6/9|c.768-19C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1532;p3_1000G_AF=0.305911;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=16652;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.3161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206904464;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=862,3544;ESP6500_AA_AGE=336.0+/-304.2;ESP6500_AA_GTC=82,698,1423;ESP6500_CDS_SIZES=NM_032960.3:1203,NM_004759.4:1113;ESP6500_CG=2.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=102;ESP6500_EA_AC=2722,5878;ESP6500_EA_AGE=434.5+/-357.7;ESP6500_EA_GTC=424,1874,2002;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032960.3:intron,NM_004759.4:intron;ESP6500_GL=MAPKAPK2;ESP6500_GRCh38_POSITION=1:206731119;ESP6500_GTC=506,2572,3425;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032960.3:c.768-19C>T,NM_004759.4:c.768-19C>T;ESP6500_MAF=31.6512,19.5642,27.5565;ESP6500_TAC=3584,9422	GT:AD:DP:GQ:PL	0/1:42,38:80:99:944,0,1047
chr1	206770006	rs3024494	T	C	462.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3024494;dbSNPBuildID=102;ANN=C|intron_variant|MODIFIER|IL10|IL10|transcript|NM_000572.2|protein_coding|3/4|c.379-112A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4892;p3_1000G_AF=0.976837;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21322;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206943351;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:491,42,0
chr1	206770888	rs1554286	A	G	776.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.613;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.441;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1554286;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|IL10|IL10|transcript|NM_000572.2|protein_coding|3/4|c.378+19T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2964;p3_1000G_AF=0.591853;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=19606;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.8151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206944233;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5818;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2650,1756;ESP6500_AA_AGE=523.3+/-371.0;ESP6500_AA_GTC=809,1032,362;ESP6500_CDS_SIZES=NM_000572.2:537;ESP6500_CG=5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=106;ESP6500_EA_AC=7116,1484;ESP6500_EA_AGE=281.3+/-295.0;ESP6500_EA_GTC=2961,1194,145;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000572.2:intron;ESP6500_GL=IL10;ESP6500_GRCh38_POSITION=1:206770888;ESP6500_GTC=3770,2226,507;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000572.2:c.378+19T>C;ESP6500_MAF=17.2558,39.8547,24.9116;ESP6500_TAC=9766,3240	GT:AD:DP:GQ:PL	0/1:30,31:61:99:805,0,778
chr1	206771300	rs1518111	T	C	550.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.76;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.985;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1518111;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|IL10|IL10|transcript|NM_000572.2|protein_coding|2/4|c.225+56A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2870;p3_1000G_AF=0.573083;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=18419;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.7793;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206944645;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=830,554;ESP6500_AA_GTC=253,324,115;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20622878;ESP6500_CDS_SIZES=NM_000572.2:537;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=75;ESP6500_EA_AC=2515,667;ESP6500_EA_GTC=994,527,70;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000572.2:intron;ESP6500_GL=IL10;ESP6500_GRCh38_POSITION=1:206771300;ESP6500_GTC=1247,851,185;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20622878;ESP6500_HGVS_CDNA_VAR=NM_000572.2:c.225+56A>G;ESP6500_MAF=20.9617,40.0289,26.7411;ESP6500_TAC=3345,1221	GT:AD:DP:GQ:PL	0/1:8,18:26:99:579,0,197
chr1	206771516	rs1518110	A	C	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.465;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1518110;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|IL10|IL10|transcript|NM_000572.2|protein_coding|1/4|c.166-101T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2876;p3_1000G_AF=0.574281;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=17938;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.7803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206944861;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:108,0,127
chr1	206836565	rs2243170	T	C	615.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.41;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2243170;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|IL19|IL19|transcript|NM_153758.2|protein_coding|1/5|c.113-96T>C||||||,C|intron_variant|MODIFIER|IL19|IL19|transcript|NM_013371.3|protein_coding|2/6|c.-2-96T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4126;p3_1000G_AF=0.823882;p3_1000G_AFR_AF=0.6762;p3_1000G_AMR_AF=0.8617;p3_1000G_AN=5008;p3_1000G_DP=17346;p3_1000G_EAS_AF=0.7976;p3_1000G_EUR_AF=0.9185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207009910;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:644,57,0
chr1	206841127	rs2243188	A	C	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=2.944;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.024;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2243188;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|IL19|IL19|transcript|NM_153758.2|protein_coding|5/5|c.552+49A>C||||||,C|intron_variant|MODIFIER|IL19|IL19|transcript|NM_013371.3|protein_coding|6/6|c.438+49A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3074;p3_1000G_AF=0.613818;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=21862;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207014472;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2680,1726;ESP6500_AA_AGE=646.9+/-398.4;ESP6500_AA_GTC=811,1058,334;ESP6500_CDS_SIZES=NM_153758.2:648,NM_013371.3:534;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=58;ESP6500_EA_AC=6600,2000;ESP6500_EA_AGE=719.7+/-406.3;ESP6500_EA_GTC=2520,1560,220;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153758.2:intron,NM_013371.3:intron;ESP6500_GL=IL19;ESP6500_GRCh38_POSITION=1:206841127;ESP6500_GTC=3331,2618,554;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_153758.2:c.552+49A>C,NM_013371.3:c.438+49A>C;ESP6500_MAF=23.2558,39.1739,28.6483;ESP6500_TAC=9280,3726	GT:AD:DP:GQ:PL	0/1:18,19:37:99:499,0,416
chr1	206842612	rs2243191	T	C	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.697;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.48;ReadPosRankSum=1.41;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2243191;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|IL19|IL19|transcript|NM_153758.2|protein_coding|6/6|c.638T>C|p.Phe213Ser|663/1032|638/648|213/215||,C|missense_variant|MODERATE|IL19|IL19|transcript|NM_013371.3|protein_coding|7/7|c.524T>C|p.Phe175Ser|1463/1832|524/534|175/177||;p3_1000G_AA=C|||;p3_1000G_AC=3370;p3_1000G_AF=0.672923;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=18183;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.7724;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207015957;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3663,741;ESP6500_AA_GTC=1527,609,66;ESP6500_CDS_SIZES=NM_153758.2:648,NM_013371.3:534;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=58;ESP6500_EA_AC=6682,1906;ESP6500_EA_GTC=2610,1462,222;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153758.2:missense,NM_013371.3:missense;ESP6500_GL=IL19;ESP6500_GRCh38_POSITION=1:206842612;ESP6500_GS=155,155;ESP6500_GTC=4137,2071,288;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153758.2:c.638T>C,NM_013371.3:c.524T>C;ESP6500_HGVS_PROTEIN_VAR=NM_153758.2:p.(F213S),NM_013371.3:p.(F175S);ESP6500_MAF=22.1938,16.8256,20.3741;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10345,2647	GT:AD:DP:GQ:PL	0/1:7,5:12:99:106,0,233
chr1	206867314	rs2232360	G	A	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.515;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.447;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2232360;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|IL20|IL20|transcript|NM_018724.3|protein_coding|3/4|c.379-70G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3372;p3_1000G_AF=0.673323;p3_1000G_AFR_AF=0.8124;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=18826;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.7694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207040659;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:99:170,0,104
chr1	206913708	rs72758947	A	G	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.432;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.491;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72758947;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|FCMR|FCMR|transcript|NM_005449.4|protein_coding|2/7|c.373+51T>C||||||,G|intron_variant|MODIFIER|FCMR|FCMR|transcript|NM_001193338.1|protein_coding|2/6|c.373+51T>C||||||,G|intron_variant|MODIFIER|FCMR|FCMR|transcript|NM_001142473.1|protein_coding|1/6|c.38-666T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=549;p3_1000G_AF=0.109625;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=20397;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207087053;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1176;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=265,4127;ESP6500_AA_GTC=11,243,1942;ESP6500_CDS_SIZES=NM_005449.4:1173,NM_001193338.1:921,NM_001142473.1:837;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=48;ESP6500_EA_AC=990,7596;ESP6500_EA_GTC=54,882,3357;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005449.4:intron,NM_001193338.1:intron,NM_001142473.1:intron;ESP6500_GL=FAIM3;ESP6500_GRCh38_POSITION=1:206913708;ESP6500_GTC=65,1125,5299;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005449.4:c.373+51T>C,NM_001193338.1:c.373+51T>C,NM_001142473.1:c.38-666T>C;ESP6500_MAF=11.5304,6.0337,9.6702;ESP6500_TAC=1255,11723	GT:AD:DP:GQ:PL	0/1:13,15:28:99:438,0,380
chr1	206931468	rs291100	T	C	397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=8.822;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=0.161;SOR=0.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs291100;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|PIGR|PIGR|transcript|NM_002644.3|protein_coding|10/10|c.2199+29A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1336;p3_1000G_AF=0.266773;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=20873;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207104813;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2890,1516;ESP6500_AA_AGE=481.4+/-359.1;ESP6500_AA_GTC=975,940,288;ESP6500_CDS_SIZES=NM_002644.3:2295;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=174;ESP6500_EA_AC=255,8345;ESP6500_EA_AGE=808.2+/-407.2;ESP6500_EA_GTC=7,241,4052;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002644.3:intron;ESP6500_GL=PIGR;ESP6500_GRCh38_POSITION=1:206931468;ESP6500_GTC=982,1181,4340;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002644.3:c.2199+29A>G;ESP6500_MAF=2.9651,34.4076,24.1811;ESP6500_TAC=3145,9861	GT:AD:DP:GQ:PL	0/1:8,13:21:99:426,0,236
chr1	206933099	rs172361	A	G	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.316;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.666;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs172361;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|PIGR|PIGR|transcript|NM_002644.3|protein_coding|7/11|c.1773T>C|p.Phe591Phe|1957/4275|1773/2295|591/764||;p3_1000G_AA=A|||;p3_1000G_AC=1304;p3_1000G_AF=0.260383;p3_1000G_AFR_AF=0.7398;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=20444;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207106444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2791,1615;ESP6500_AA_AGE=662.4+/-401.0;ESP6500_AA_GTC=915,961,327;ESP6500_CDS_SIZES=NM_002644.3:2295;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=84;ESP6500_EA_AC=251,8349;ESP6500_EA_AGE=98.1+/-159.7;ESP6500_EA_GTC=7,237,4056;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002644.3:coding-synonymous;ESP6500_GL=PIGR;ESP6500_GRCh38_POSITION=1:206933099;ESP6500_GTC=922,1198,4383;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002644.3:c.1773T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002644.3:p.(F591);ESP6500_MAF=2.9186,36.6546,23.3892;ESP6500_TAC=3042,9964	GT:AD:DP:GQ:PL	0/1:26,14:40:99:364,0,632
chr1	206933133	rs291102;13526	G	A	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.177;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.879;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs291102;dbSNPBuildID=79;ANN=A|missense_variant|MODERATE|PIGR|PIGR|transcript|NM_002644.3|protein_coding|7/11|c.1739C>T|p.Ala580Val|1923/4275|1739/2295|580/764||;p3_1000G_AA=G|||;p3_1000G_AC=1336;p3_1000G_AF=0.266773;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=20941;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207106478;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2890,1516;ESP6500_AA_AGE=674.5+/-402.9;ESP6500_AA_GTC=975,940,288;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...5284&amp%3Brs...291102|http://www.ncbi.nlm.nih.gov/omim/161950,173880|http://omim.org/entry/173880#0001;ESP6500_CDS_SIZES=NM_002644.3:2295;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=66;ESP6500_EA_AC=252,8348;ESP6500_EA_AGE=98.4+/-159.9;ESP6500_EA_GTC=7,238,4055;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002644.3:missense;ESP6500_GL=PIGR;ESP6500_GRCh38_POSITION=1:206933133;ESP6500_GS=64;ESP6500_GTC=982,1178,4343;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002644.3:c.1739C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002644.3:p.(A580V);ESP6500_MAF=2.9302,34.4076,24.1581;ESP6500_PH=benign:0.008;ESP6500_TAC=3142,9864;CLINVAR_AF_ESP=0.2416;CLINVAR_AF_EXAC=0.10874;CLINVAR_AF_TGP=0.2668;CLINVAR_ALLELEID=28565;CLINVAR_CLNDISDB=Gene:60498,MedGen:C0017661;CLINVAR_CLNDN=Berger_disease;CLINVAR_CLNHGVS=NC_000001.11:g.206933133G>A;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:173880.0001|UniProtKB_(protein):P01833#VAR_003920;CLINVAR_GENEINFO=PIGR:5284;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=291102	GT:AD:DP:GQ:PL	0/1:20,13:33:99:339,0,538
chr1	206934351	rs908701	C	T	847.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.028;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.28;ReadPosRankSum=0.233;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs908701;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PIGR|PIGR|transcript|NM_002644.3|protein_coding|6/10|c.1705+69G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1147;p3_1000G_AF=0.229034;p3_1000G_AFR_AF=0.6316;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=18270;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207107696;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,21:28:99:0|1:206934351_C_T:876,0,584
chr1	206934354	rs908700	G	A	847.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.378;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=2.696;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.35;ReadPosRankSum=1.53;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs908700;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PIGR|PIGR|transcript|NM_002644.3|protein_coding|6/10|c.1705+66C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1146;p3_1000G_AF=0.228834;p3_1000G_AFR_AF=0.6309;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=18279;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207107699;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,22:31:99:0|1:206934351_C_T:876,0,584
chr1	206937070	rs397955967;rs58368090;~rs58368090	T	TC	641.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.544;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.266;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.561;SOR=1.096;INS;HET;VARTYPE=INS;dbSNP138_ID=rs58368090;dbSNPBuildID=137,138;ANN=TC|intron_variant|MODIFIER|PIGR|PIGR|transcript|NM_002644.3|protein_coding|4/10|c.1045+24dupG||||||;p3_1000G_AA=CCCCC|CCCCC|CCCCCC|insertion;p3_1000G_AC=1162;p3_1000G_AF=0.232029;p3_1000G_AFR_AF=0.6921;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=21244;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.0249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207110415;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=INDEL;ESP6500_AA_AC=1,2542,1723;ESP6500_AA_GTC=0,1,0,781,979,372;ESP6500_CDS_SIZES=NM_002644.3:2295,NM_002644.3:2295;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=34;ESP6500_EA_AC=0,228,8026;ESP6500_EA_GTC=0,0,0,5,218,3904;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002644.3:intron,NM_002644.3:intron;ESP6500_GL=PIGR;ESP6500_GRCh38_POSITION=1:206937070;ESP6500_GTC=0,1,0,786,1197,4276;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_002644.3:c.1045+24_1045+25insG,NM_002644.3:c.1045+24_1045+25insT;ESP6500_MAF=2.7623,40.4126,22.1326;ESP6500_TAC=1,2770,9749	GT:AD:DP:GQ:PL	0/1:23,26:49:99:679,0,577
chr1	206937543	rs291097	G	A	1455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.279;ClippingRankSum=0;DP=114;ExcessHet=3.0103;FS=7.3;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.126;SOR=0.367;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs291097;dbSNPBuildID=79;ANN=A|synonymous_variant|LOW|PIGR|PIGR|transcript|NM_002644.3|protein_coding|4/11|c.597C>T|p.Gly199Gly|781/4275|597/2295|199/764||;p3_1000G_AA=G|||;p3_1000G_AC=1162;p3_1000G_AF=0.232029;p3_1000G_AFR_AF=0.6921;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=23475;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.0249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207110888;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2629,1777;ESP6500_AA_AGE=643.2+/-397.8;ESP6500_AA_GTC=813,1003,387;ESP6500_CDS_SIZES=NM_002644.3:2295;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=75;ESP6500_EA_AC=235,8365;ESP6500_EA_AGE=94.2+/-156.2;ESP6500_EA_GTC=5,225,4070;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002644.3:coding-synonymous;ESP6500_GL=PIGR;ESP6500_GRCh38_POSITION=1:206937543;ESP6500_GTC=818,1228,4457;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002644.3:c.597C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002644.3:p.(G199);ESP6500_MAF=2.7326,40.3314,22.0206;ESP6500_TAC=2864,10142	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1484,0,1685
chr1	206937591	rs291096	T	C	1289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.809;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=1.55;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.097;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs291096;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|PIGR|PIGR|transcript|NM_002644.3|protein_coding|4/11|c.549A>G|p.Val183Val|733/4275|549/2295|183/764||;p3_1000G_AA=C|||;p3_1000G_AC=2759;p3_1000G_AF=0.550919;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=23720;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207110936;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3739,667;ESP6500_AA_AGE=281.6+/-276.1;ESP6500_AA_GTC=1592,555,56;ESP6500_CDS_SIZES=NM_002644.3:2295;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=83;ESP6500_EA_AC=4022,4578;ESP6500_EA_AGE=596.9+/-393.7;ESP6500_EA_GTC=942,2138,1220;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002644.3:coding-synonymous;ESP6500_GL=PIGR;ESP6500_GRCh38_POSITION=1:206937591;ESP6500_GTC=2534,2693,1276;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002644.3:c.549A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002644.3:p.(V183);ESP6500_MAF=46.7674,15.1384,40.3275;ESP6500_TAC=7761,5245	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1318,0,1577
chr1	206940692	rs291090	A	G	89.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=0.524;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs291090;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|PIGR|PIGR|transcript|NM_002644.3|protein_coding|1/10|c.-53-108T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1245;p3_1000G_AF=0.248602;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=22949;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207114037;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:23:118,0,23
chr1	206962201	rs1572808	G	A	679.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.912;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.902;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=1.3;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1572808;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_001170631.1|protein_coding|5/7|c.652+12C>T||||||,A|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_001122979.2|protein_coding|6/7|c.652+12C>T||||||,A|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_032029.4|protein_coding|5/6|c.652+12C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1648;p3_1000G_AF=0.329073;p3_1000G_AFR_AF=0.6596;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=20717;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207135546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1929,1207;ESP6500_AA_GTC=592,745,231;ESP6500_CDS_SIZES=NM_032029.4:798,NM_001170631.1:1734,NM_001122979.2:798;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=65;ESP6500_EA_AC=1967,5197;ESP6500_EA_GTC=257,1453,1872;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032029.4:intron,NM_001170631.1:intron,NM_001122979.2:intron;ESP6500_GL=FCAMR;ESP6500_GRCh38_POSITION=1:206962201;ESP6500_GTC=849,2198,2103;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032029.4:c.652+12C>T,NM_001170631.1:c.652+12C>T,NM_001122979.2:c.652+12C>T;ESP6500_MAF=27.4567,38.4885,37.8252;ESP6500_TAC=3896,6404	GT:AD:DP:GQ:PL	0/1:10,26:36:99:708,0,234
chr1	206962646	rs11119925	C	T	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.803;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.623;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11119925;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_001170631.1|protein_coding|4/7|c.314-95G>A||||||,T|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_001122979.2|protein_coding|5/7|c.314-95G>A||||||,T|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_032029.4|protein_coding|4/6|c.314-95G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1752;p3_1000G_AF=0.34984;p3_1000G_AFR_AF=0.6868;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=23781;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207135991;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:107,0,198
chr1	206970077	rs1856746	A	G	446.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.994;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1856746;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_001170631.1|protein_coding|1/7|c.39+10T>C||||||,G|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_001122979.2|protein_coding|2/7|c.39+10T>C||||||,G|intron_variant|MODIFIER|FCAMR|FCAMR|transcript|NM_032029.4|protein_coding|1/6|c.39+10T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2755;p3_1000G_AF=0.55012;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=19144;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207143422;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2678,458;ESP6500_AA_GTC=1148,382,38;ESP6500_CDS_SIZES=NM_032029.4:798,NM_001170631.1:1734,NM_001122979.2:798;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=143;ESP6500_EA_AC=3353,3811;ESP6500_EA_GTC=773,1807,1002;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032029.4:intron,NM_001170631.1:intron,NM_001122979.2:intron;ESP6500_GL=FCAMR;ESP6500_GRCh38_POSITION=1:206970077;ESP6500_GTC=1921,2189,1040;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032029.4:c.39+10T>C,NM_001170631.1:c.39+10T>C,NM_001122979.2:c.39+10T>C;ESP6500_MAF=46.8035,14.6046,41.4466;ESP6500_TAC=6031,4269	GT:AD:DP:GQ:PL	0/1:19,18:37:99:475,0,462
chr1	207022434	rs2842726	A	G	1575.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=1.007;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2842726;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|C1orf116|C1orf116|transcript|NM_023938.5|protein_coding|4/4|c.1330T>C|p.Ser444Pro|1589/5502|1330/1806|444/601||,G|missense_variant|MODERATE|C1orf116|C1orf116|transcript|NM_001083924.1|protein_coding|3/3|c.592T>C|p.Ser198Pro|1403/5316|592/1068|198/355||;p3_1000G_AA=G|||;p3_1000G_AC=4984;p3_1000G_AF=0.995208;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20666;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207195779;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4395,11;ESP6500_AA_AGE=15.5+/-35.6;ESP6500_AA_GTC=2192,11,0;ESP6500_CDS_SIZES=NM_023938.5:1806,NM_001083924.1:1068;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=8464,136;ESP6500_EA_AGE=66.3+/-128.7;ESP6500_EA_GTC=4166,132,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_023938.5:missense,NM_001083924.1:missense;ESP6500_GL=C1orf116;ESP6500_GRCh38_POSITION=1:207022434;ESP6500_GS=74,74;ESP6500_GTC=6358,143,2;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_023938.5:c.1330T>C,NM_001083924.1:c.592T>C;ESP6500_HGVS_PROTEIN_VAR=NM_023938.5:p.(S444P),NM_001083924.1:p.(S198P);ESP6500_MAF=1.5814,0.2497,1.1302;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12859,147	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1604,147,0
chr1	207063888	rs1491580337;rs543401609	GGT	G	72.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.946;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.97;ReadPosRankSum=0.544;SOR=0.502;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151,142;ANN=G|intron_variant|MODIFIER|PFKFB2|PFKFB2|transcript|NM_006212.2|protein_coding|7/14|c.507+86_507+87delGT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PFKFB2|PFKFB2|transcript|NM_001018053.1|protein_coding|7/14|c.507+86_507+87delGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:30,7:37:99:110,0,868
chr1	207070506	rs923109	A	G	475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs923109;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PFKFB2|PFKFB2|transcript|NM_006212.2|protein_coding|12/14|c.1222+97A>G||||||,G|intron_variant|MODIFIER|PFKFB2|PFKFB2|transcript|NM_001018053.1|protein_coding|12/14|c.1222+97A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4393;p3_1000G_AF=0.877196;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=20480;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.7306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207243851;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:504,36,0
chr1	207071700	rs11120137	T	C	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.78;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.623;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11120137;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PFKFB2|PFKFB2|transcript|NM_006212.2|protein_coding|14/14|c.1350+127T>C||||||,C|intron_variant|MODIFIER|PFKFB2|PFKFB2|transcript|NM_001018053.1|protein_coding|14/14|c.1350+127T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2570;p3_1000G_AF=0.513179;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=20740;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207245045;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:250,0,203
chr1	207089635	rs12711513	T	G	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.339;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.213;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12711513;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_000716.3|protein_coding|1/5|c.58+46T>G||||||,G|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_001017365.2|protein_coding|2/6|c.58+46T>G||||||,G|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_001017366.2|protein_coding|2/6|c.58+46T>G||||||,G|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_001017364.1|protein_coding|1/5|c.58+46T>G||||||,G|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_001017367.1|protein_coding|2/6|c.58+46T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3067;p3_1000G_AF=0.61242;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=18580;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207262980;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2281,2125;ESP6500_AA_AGE=576.0+/-384.1;ESP6500_AA_GTC=605,1071,527;ESP6500_CDS_SIZES=NM_001017367.1:759,NM_001017366.1:756,NM_001017365.1:759,NM_001017364.1:756,NM_000716.3:759;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=209;ESP6500_EA_AC=4226,4374;ESP6500_EA_AGE=579.6+/-390.9;ESP6500_EA_GTC=1044,2138,1118;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017367.1:intron,NM_001017366.1:intron,NM_001017365.1:intron,NM_001017364.1:intron,NM_000716.3:intron;ESP6500_GL=C4BPB;ESP6500_GRCh38_POSITION=1:207089635;ESP6500_GTC=1649,3209,1645;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001017367.1:c.58+46T>G,NM_001017366.1:c.58+46T>G,NM_001017365.1:c.58+46T>G,NM_001017364.1:c.58+46T>G,NM_000716.3:c.58+46T>G;ESP6500_MAF=49.1395,48.2297,49.9692;ESP6500_TAC=6507,6499	GT:AD:DP:GQ:PL	0/1:17,13:30:99:345,0,474
chr1	207090484	rs6690037;402446	A	G	837.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.527;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.343;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=0.118;SOR=1.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6690037;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|C4BPB|C4BPB|transcript|NM_000716.3|protein_coding|2/5|c.232+3A>G||||||,G|splice_region_variant&intron_variant|LOW|C4BPB|C4BPB|transcript|NM_001017365.2|protein_coding|3/6|c.232+3A>G||||||,G|splice_region_variant&intron_variant|LOW|C4BPB|C4BPB|transcript|NM_001017366.2|protein_coding|3/6|c.229+3A>G||||||,G|splice_region_variant&intron_variant|LOW|C4BPB|C4BPB|transcript|NM_001017364.1|protein_coding|2/5|c.229+3A>G||||||,G|splice_region_variant&intron_variant|LOW|C4BPB|C4BPB|transcript|NM_001017367.1|protein_coding|3/6|c.232+3A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2221;p3_1000G_AF=0.44349;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=19018;p3_1000G_EAS_AF=0.747;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207263829;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=634,3772;ESP6500_AA_AGE=272.5+/-270.8;ESP6500_AA_GTC=52,530,1621;ESP6500_CDS_SIZES=NM_001017367.1:759,NM_001017366.1:756,NM_001017365.1:759,NM_001017364.1:756,NM_000716.3:759;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=98;ESP6500_EA_AC=4188,4412;ESP6500_EA_AGE=569.1+/-389.1;ESP6500_EA_GTC=1024,2140,1136;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017367.1:intron,NM_001017366.1:intron,NM_001017365.1:intron,NM_001017364.1:intron,NM_000716.3:intron;ESP6500_GL=C4BPB;ESP6500_GRCh38_POSITION=1:207090484;ESP6500_GTC=1076,2670,2757;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001017367.1:c.232+3A>G,NM_001017366.1:c.229+3A>G,NM_001017365.1:c.232+3A>G,NM_001017364.1:c.229+3A>G,NM_000716.3:c.232+3A>G;ESP6500_MAF=48.6977,14.3895,37.0752;ESP6500_TAC=4822,8184;CLINVAR_ALLELEID=389372;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.207090484A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=C4BPB:725;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6690037	GT:AD:DP:GQ:PL	0/1:14,31:45:99:866,0,311
chr1	207096513	rs3813948;402448	T	C	887.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.8;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.953;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813948;dbSNPBuildID=107;ANN=C|sequence_feature|LOW|C4BPB|C4BPB|domain:Sushi_3|NM_001017365.2|protein_coding|4/6|c.410-9T>C||||||,C|sequence_feature|LOW|C4BPB|C4BPB|domain:Sushi_3|NM_001017364.1|protein_coding|3/5|c.407-9T>C||||||,C|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_000716.3|protein_coding|3/5|c.410-9T>C||||||,C|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_001017365.2|protein_coding|4/6|c.410-9T>C||||||,C|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_001017366.2|protein_coding|4/6|c.407-9T>C||||||,C|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_001017364.1|protein_coding|3/5|c.407-9T>C||||||,C|intron_variant|MODIFIER|C4BPB|C4BPB|transcript|NM_001017367.1|protein_coding|4/6|c.410-9T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=617;p3_1000G_AF=0.123203;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=20169;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207269858;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=712,3694;ESP6500_AA_AGE=294.7+/-283.3;ESP6500_AA_GTC=63,586,1554;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20212171;ESP6500_CDS_SIZES=NM_001017367.1:759,NM_001017366.1:756,NM_001017365.1:759,NM_001017364.1:756,NM_000716.3:759;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=94;ESP6500_EA_AC=672,7928;ESP6500_EA_AGE=168.3+/-219.8;ESP6500_EA_GTC=26,620,3654;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001017367.1:intron,NM_001017366.1:intron,NM_001017365.1:intron,NM_001017364.1:intron,NM_000716.3:intron;ESP6500_GL=C4BPB;ESP6500_GRCh38_POSITION=1:207096513;ESP6500_GTC=89,1206,5208;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20212171;ESP6500_HGVS_CDNA_VAR=NM_001017367.1:c.410-9T>C,NM_001017366.1:c.407-9T>C,NM_001017365.1:c.410-9T>C,NM_001017364.1:c.407-9T>C,NM_000716.3:c.410-9T>C;ESP6500_MAF=7.814,16.1598,10.6412;ESP6500_TAC=1384,11622;CLINVAR_ALLELEID=389356;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.207096513T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=C4BPB:725;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3813948	GT:AD:DP:GQ:PL	0/1:21,31:52:99:916,0,436
chr1	207096574	rs8942;402449	C	T	899.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.136;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=5.425;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-1.211;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8942;dbSNPBuildID=102;ANN=T|sequence_feature|MODERATE|C4BPB|C4BPB|glycosylation-site:N-linked_(GlcNAc...)|NM_001017365.2|protein_coding|5/7|c.462C>T||||||,T|sequence_feature|MODERATE|C4BPB|C4BPB|glycosylation-site:N-linked_(GlcNAc...)|NM_001017364.1|protein_coding|4/6|c.459C>T||||||,T|synonymous_variant|LOW|C4BPB|C4BPB|transcript|NM_000716.3|protein_coding|4/6|c.462C>T|p.Asn154Asn|755/1115|462/759|154/252||,T|synonymous_variant|LOW|C4BPB|C4BPB|transcript|NM_001017365.2|protein_coding|5/7|c.462C>T|p.Asn154Asn|617/977|462/759|154/252||,T|synonymous_variant|LOW|C4BPB|C4BPB|transcript|NM_001017366.2|protein_coding|5/7|c.459C>T|p.Asn153Asn|614/974|459/756|153/251||,T|synonymous_variant|LOW|C4BPB|C4BPB|transcript|NM_001017364.1|protein_coding|4/6|c.459C>T|p.Asn153Asn|752/1112|459/756|153/251||,T|synonymous_variant|LOW|C4BPB|C4BPB|transcript|NM_001017367.1|protein_coding|5/7|c.462C>T|p.Asn154Asn|591/951|462/759|154/252||;p3_1000G_AA=T|||;p3_1000G_AC=1952;p3_1000G_AF=0.389776;p3_1000G_AFR_AF=0.885;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=20355;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207269919;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3366,1040;ESP6500_AA_AGE=381.8+/-324.2;ESP6500_AA_GTC=1304,758,141;ESP6500_CDS_SIZES=NM_001017367.1:759,NM_001017366.1:756,NM_001017365.1:759,NM_001017364.1:756,NM_000716.3:759;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=101;ESP6500_EA_AC=1614,6986;ESP6500_EA_AGE=742.6+/-407.2;ESP6500_EA_GTC=155,1304,2841;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001017367.1:coding-synonymous,NM_001017366.1:coding-synonymous,NM_001017365.1:coding-synonymous,NM_001017364.1:coding-synonymous,NM_000716.3:coding-synonymous;ESP6500_GL=C4BPB;ESP6500_GRCh38_POSITION=1:207096574;ESP6500_GTC=1459,2062,2982;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001017367.1:c.462C>T,NM_001017366.1:c.459C>T,NM_001017365.1:c.462C>T,NM_001017364.1:c.459C>T,NM_000716.3:c.462C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001017367.1:p.(N154),NM_001017366.1:p.(N153),NM_001017365.1:p.(N154),NM_001017364.1:p.(N153),NM_000716.3:p.(N154);ESP6500_MAF=18.7674,23.6042,38.29;ESP6500_TAC=4980,8026;CLINVAR_ALLELEID=389341;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.207096574C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=C4BPB:725;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=8942	GT:AD:DP:GQ:PL	0/1:22,38:60:99:928,0,509
chr1	207124139	rs2842707	G	C	1048.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.34;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2842707;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|C4BPA|C4BPA|transcript|NM_000715.3|protein_coding|5/11|c.515-36G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2633;p3_1000G_AF=0.525759;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=20373;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207297484;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2267,2139;ESP6500_AA_AGE=570.5+/-382.9;ESP6500_AA_GTC=575,1117,511;ESP6500_CDS_SIZES=NM_000715.3:1794;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=3515,5085;ESP6500_EA_AGE=629.1+/-398.2;ESP6500_EA_GTC=716,2083,1501;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000715.3:intron;ESP6500_GL=C4BPA;ESP6500_GRCh38_POSITION=1:207124139;ESP6500_GTC=1291,3200,2012;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000715.3:c.515-36G>C;ESP6500_MAF=40.8721,48.5474,44.4564;ESP6500_TAC=5782,7224	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1077,87,0
chr1	207124335	rs1126618;402444	T	C	1180.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1126618;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|C4BPA|C4BPA|transcript|NM_000715.3|protein_coding|6/12|c.675T>C|p.Gly225Gly|869/2243|675/1794|225/597||;p3_1000G_AA=T|||;p3_1000G_AC=4296;p3_1000G_AF=0.857827;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.8646;p3_1000G_AN=5008;p3_1000G_DP=19499;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207297680;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4018,388;ESP6500_AA_AGE=790.5+/-415.0;ESP6500_AA_GTC=1834,350,19;ESP6500_CDS_SIZES=NM_000715.3:1794;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=74;ESP6500_EA_AC=7180,1420;ESP6500_EA_AGE=752.4+/-407.4;ESP6500_EA_GTC=2994,1192,114;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000715.3:coding-synonymous;ESP6500_GL=C4BPA;ESP6500_GRCh38_POSITION=1:207124335;ESP6500_GTC=4828,1542,133;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000715.3:c.675T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000715.3:p.(G225);ESP6500_MAF=16.5116,8.8062,13.9013;ESP6500_TAC=11198,1808;CLINVAR_ALLELEID=389358;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.207124335T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=C4BPA:722;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1126618	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1209,114,0
chr1	207336944	rs2490257	T	C	5265.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=162;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2490257;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001300902.1|protein_coding|7/9|c.979+126T>C||||||,C|intron_variant|MODIFIER|CD55|CD55|transcript|NM_000574.4|protein_coding|7/9|c.979+126T>C||||||,C|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001114752.2|protein_coding|7/10|c.979+126T>C||||||,C|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001300903.1|protein_coding|7/10|c.979+126T>C||||||,C|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001300904.1|protein_coding|7/10|c.979+126T>C||||||,C|intron_variant|MODIFIER|CD55|CD55|transcript|NR_125349.1|pseudogene|7/10|n.1273+126T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4978;p3_1000G_AF=0.99401;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20232;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207510289;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,162:162:99:5294,442,0
chr1	207339232	rs10641442;rs59976929	T	TTAA	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59976929,rs10641442;dbSNPBuildID=134,129;ANN=TTAA|sequence_feature|LOW|CD55|CD55|propeptide:Removed_in_mature_form|NM_001114752.2|protein_coding|8/10|c.1061-165_1061-164insTAA||||||,TTAA|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001300902.1|protein_coding|8/9|c.1061-163_1061-161dupAAT||||||INFO_REALIGN_3_PRIME,TTAA|intron_variant|MODIFIER|CD55|CD55|transcript|NM_000574.4|protein_coding|8/9|c.1061-163_1061-161dupAAT||||||INFO_REALIGN_3_PRIME,TTAA|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001114752.2|protein_coding|8/10|c.1061-163_1061-161dupAAT||||||INFO_REALIGN_3_PRIME,TTAA|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001300903.1|protein_coding|8/10|c.1061-163_1061-161dupAAT||||||INFO_REALIGN_3_PRIME,TTAA|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001300904.1|protein_coding|8/10|c.1061-163_1061-161dupAAT||||||INFO_REALIGN_3_PRIME,TTAA|intron_variant|MODIFIER|CD55|CD55|transcript|NR_125349.1|pseudogene|8/10|n.1355-163_1355-161dupAAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4977;p3_1000G_AF=0.99381;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=14943;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207512577;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0
chr1	207347443	rs1257729	G	A	504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1257729;dbSNPBuildID=87;ANN=A|splice_region_variant&intron_variant|LOW|CD55|CD55|transcript|NM_001300903.1|protein_coding|9/10|c.1082-4G>A||||||,A|intron_variant|MODIFIER|CD55|CD55|transcript|NM_000574.4|protein_coding|9/9|c.1081+8026G>A||||||,A|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001114752.2|protein_coding|10/10|c.1199+6935G>A||||||,A|intron_variant|MODIFIER|CD55|CD55|transcript|NM_001300904.1|protein_coding|9/10|c.1082-6564G>A||||||,A|intron_variant|MODIFIER|CD55|CD55|transcript|NR_125349.1|pseudogene|9/10|n.1376-2695G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1506;p3_1000G_AF=0.300719;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=17537;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.2545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207520788;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:533,39,0
chr1	207470604	rs10863322	G	A	311.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.64;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10863322;dbSNPBuildID=120;ANN=A|sequence_feature|LOW|CR2|CR2|domain:Sushi_7|NM_001006658.2|protein_coding|6/19|c.1226-136G>A||||||,A|sequence_feature|LOW|CR2|CR2|domain:Sushi_7|NM_001877.4|protein_coding|6/18|c.1226-136G>A||||||,A|intron_variant|MODIFIER|CR2|CR2|transcript|NM_001006658.2|protein_coding|6/19|c.1226-136G>A||||||,A|intron_variant|MODIFIER|CR2|CR2|transcript|NM_001877.4|protein_coding|6/18|c.1226-136G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2708;p3_1000G_AF=0.540735;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=20631;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.5189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207643949;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:340,27,0
chr1	207479833	rs12032512	C	G	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.229;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.57;ReadPosRankSum=1.95;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12032512;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CR2|CR2|transcript|NM_001006658.2|protein_coding|17/19|c.3113-145C>G||||||,G|intron_variant|MODIFIER|CR2|CR2|transcript|NM_001877.4|protein_coding|16/18|c.2936-145C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1922;p3_1000G_AF=0.383786;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=20011;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.4274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207653178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,13:19:99:400,0,196
chr1	207480050	rs17617;rs6540433;402562	C	A	1373.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17617;dbSNPBuildID=136;ANN=A|missense_variant|MODERATE|CR2|CR2|transcript|NM_001006658.2|protein_coding|18/20|c.3185C>A|p.Ala1062Glu|3304/4170|3185/3279|1062/1092||,A|missense_variant|MODERATE|CR2|CR2|transcript|NM_001877.4|protein_coding|17/19|c.3008C>A|p.Ala1003Glu|3127/3993|3008/3102|1003/1033||;p3_1000G_AA=A|||;p3_1000G_AC=4722;p3_1000G_AF=0.942891;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=21110;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207653395;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9427;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4299,107;ESP6500_AA_AGE=85.3+/-124.0;ESP6500_AA_GTC=2100,99,4;ESP6500_CDS_SIZES=NM_001877.4:3102,NM_001006658.2:3279;ESP6500_CG=-2.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=160;ESP6500_EA_AC=7127,1469;ESP6500_EA_AGE=280.2+/-294.4;ESP6500_EA_GTC=2963,1201,134;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001877.4:missense,NM_001006658.2:missense;ESP6500_GL=CR2;ESP6500_GRCh38_POSITION=1:207480050;ESP6500_GS=107,107;ESP6500_GTC=5063,1300,138;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001877.4:c.3008C>A,NM_001006658.2:c.3185C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001877.4:p.(A1003E),NM_001006658.2:p.(A1062E);ESP6500_MAF=17.0893,2.4285,12.1212;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11426,1576;CLINVAR_ALLELEID=389350;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.207480050C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CR2:1380;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17617	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1402,126,0
chr1	207505884	rs4844599	T	G	766.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=1.55;SOR=0.571;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368370061,rs4844599;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|1/46|c.122-20T>G||||||,G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|1/38|c.122-20T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1360;p3_1000G_AF=0.271565;p3_1000G_AFR_AF=0.1467;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=21312;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.1839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207679229;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=591,3143;ESP6500_AA_GTC=46,499,1322;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=108;ESP6500_EA_AC=1535,6661;ESP6500_EA_GTC=128,1279,2691;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000651.4:intron,NM_000573.3:intron;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207505884;ESP6500_GTC=174,1778,4013;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.122-20T>G,NM_000573.3:c.122-20T>G;ESP6500_MAF=18.7286,15.8275,17.8206;ESP6500_TAC=2126,9804	GT:AD:DP:GQ:PL	0/1:22,24:46:99:795,0,634
chr1	207505962	rs4844600	A	G	2390.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.65;SOR=1.211;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4844600;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|CR1|CR1|transcript|NM_000651.4|protein_coding|2/47|c.180A>G|p.Glu60Glu|320/9966|180/7470|60/2489||,G|synonymous_variant|LOW|CR1|CR1|transcript|NM_000573.3|protein_coding|2/39|c.180A>G|p.Glu60Glu|320/8616|180/6120|60/2039||;p3_1000G_AA=G|||;p3_1000G_AC=4259;p3_1000G_AF=0.850439;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=19608;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.8111;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207679307;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3501,229;ESP6500_AA_GTC=1641,219,5;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=144;ESP6500_EA_AC=6609,1565;ESP6500_EA_GTC=2667,1275,145;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000651.4:coding-synonymous,NM_000573.3:coding-synonymous;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207505962;ESP6500_GTC=4308,1494,150;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.180A>G,NM_000573.3:c.180A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000651.4:p.(E60),NM_000573.3:p.(E60);ESP6500_MAF=19.1461,6.1394,15.0706;ESP6500_TAC=10110,1794	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2419,207,0
chr1	207527003	rs9429784	G	A	277.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=26.88;QD=27.78;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs146366639;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|6/46|c.1064-18G>A||||||,A|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|6/38|c.1064-18G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4255;p3_1000G_AF=0.849641;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs146366639;p3_1000G_DP=13672;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.8052;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207700348;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:306,30,0
chr1	207542754	rs9429953	A	C	204.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.953;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.17;MQRankSum=0.186;QD=7.31;ReadPosRankSum=0.204;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75711253;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|13/46|c.2236+174A>C||||||,C|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|8/38|c.1253-7981A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1766;p3_1000G_AF=0.352636;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs75711253;p3_1000G_DP=20232;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.1879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207716099;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:233,0,375
chr1	207545558	rs150543427	G	A	536.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=25;QD=28.25;SOR=5.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs150543427;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|14/46|c.2414-18G>A||||||,A|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|8/38|c.1253-5177G>A||||||	GT:AD:DP:GQ:PL	1/1:0,19:19:57:565,57,0
chr1	207552655	rs4844605	G	A	183.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.463;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.25;MQRankSum=0.135;QD=5.25;ReadPosRankSum=1.12;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115073977;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|18/46|c.3002-97G>A||||||,A|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|10/38|c.1652-97G>A||||||	GT:AD:DP:GQ:PL	0/1:24,11:35:99:212,0,589
chr1	207552694	rs4844606	C	T	152.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.226;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27.43;MQRankSum=0.082;QD=4.93;ReadPosRankSum=-1.922;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145305229;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|18/46|c.3002-58C>T||||||,T|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|10/38|c.1652-58C>T||||||	GT:AD:DP:GQ:PL	0/1:21,10:31:99:181,0,536
chr1	207552816	rs3738467	G	T	128.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.476;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.738;MLEAC=1;MLEAF=0.5;MQ=25;MQRankSum=0;QD=4.77;ReadPosRankSum=-1.508;SOR=1.702;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200082366;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|CR1|CR1|transcript|NM_000651.4|protein_coding|19/47|c.3066G>T|p.Gln1022His|3206/9966|3066/7470|1022/2489||,T|missense_variant|MODERATE|CR1|CR1|transcript|NM_000573.3|protein_coding|11/39|c.1716G>T|p.Gln572His|1856/8616|1716/6120|572/2039||	GT:AD:DP:GQ:PL	0/1:19,8:27:99:157,0,484
chr1	207552943	rs557359271	C	CT	62.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=25;MQRankSum=0;QD=8.96;ReadPosRankSum=-1.368;SOR=0.495;INS;HET;VARTYPE=INS;dbSNPBuildID=142;ANN=CT|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|19/46|c.3101+92_3101+93insT||||||,CT|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|11/38|c.1751+92_1751+93insT||||||;p3_1000G_AA=-|-|T|insertion;p3_1000G_AC=866;p3_1000G_AF=0.172923;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=18024;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.1044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207726288;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,3:7:99:100,0,141
chr1	207565782	rs3886100	A	G	794.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.17;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=-0.448;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3886100;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|23/46|c.3867-56A>G||||||,G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|15/38|c.2517-56A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1961;p3_1000G_AF=0.391573;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=19907;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207739127;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=289,1071;ESP6500_AA_GTC=61,167,452;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=244;ESP6500_EA_AC=1891,1289;ESP6500_EA_GTC=557,777,256;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000651.4:intron,NM_000573.3:intron;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207565782;ESP6500_GTC=618,944,708;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.3867-56A>G,NM_000573.3:c.2517-56A>G;ESP6500_MAF=40.5346,21.25,48.0176;ESP6500_TAC=2180,2360	GT:AD:DP:GQ:PL	0/1:18,26:44:99:823,0,511
chr1	207575448	rs650877	A	G	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.231;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.139;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.623;SOR=0.129;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs650877;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|27/46|c.4452-147A>G||||||,G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|19/38|c.3102-147A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2239;p3_1000G_AF=0.447085;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=18707;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207748793;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:336,0,274
chr1	207580202	rs117447527	C	A	827.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.793;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=3.002;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.728;SOR=1.059;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117447527;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|29/46|c.4937-38C>A||||||,A|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|21/38|c.3587-38C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=41;p3_1000G_AF=0.0081869;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19462;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207753547;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,39:80:99:856,0,1134
chr1	207580276	rs2274567	A	G	1234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.146;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.525;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274567;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CR1|CR1|transcript|NM_000651.4|protein_coding|30/47|c.4973A>G|p.His1658Arg|5113/9966|4973/7470|1658/2489||,G|missense_variant|MODERATE|CR1|CR1|transcript|NM_000573.3|protein_coding|22/39|c.3623A>G|p.His1208Arg|3763/8616|3623/6120|1208/2039||;p3_1000G_AA=A|||;p3_1000G_AC=1474;p3_1000G_AF=0.294329;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=18110;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207753621;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=875,3049;ESP6500_AA_GTC=94,687,1181;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=126;ESP6500_EA_AC=1524,6788;ESP6500_EA_GTC=129,1266,2761;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000651.4:missense,NM_000573.3:missense;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207580276;ESP6500_GS=29,29;ESP6500_GTC=223,1953,3942;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.4973A>G,NM_000573.3:c.3623A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000651.4:p.(H1658R),NM_000573.3:p.(H1208R);ESP6500_MAF=18.3349,22.2987,19.6061;ESP6500_PH=probably-damaging:0.995,probably-damaging:0.995;ESP6500_TAC=2399,9837	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1263,0,1175
chr1	207580486	rs767000185	CT	C	38.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.61;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=0.589;SOR=0.765;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|30/46|c.5114-11delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|22/38|c.3764-11delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:24,7:31:76:76,0,511
chr1	207584591	rs646817	A	G	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-1.712;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs646817;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|32/46|c.5303-58A>G||||||,G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|24/38|c.3953-58A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=17654;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207757936;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:344,0,199
chr1	207584887	rs1752688	A	G	708.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.16;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=5.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.797;SOR=1.532;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1752688;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|33/46|c.5530+11A>G||||||,G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|25/38|c.4180+11A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=19613;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207758232;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2885,1013;ESP6500_AA_GTC=1074,737,138;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=89;ESP6500_EA_AC=1772,6528;ESP6500_EA_GTC=168,1436,2546;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000651.4:intron,NM_000573.3:intron;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207584887;ESP6500_GTC=1242,2173,2684;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.5530+11A>G,NM_000573.3:c.4180+11A>G;ESP6500_MAF=21.3494,25.9877,38.1784;ESP6500_TAC=4657,7541	GT:AD:DP:GQ:PL	0/1:33,25:58:99:737,0,863
chr1	207587428	rs3737002	C	T	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.197;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.492;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=0.852;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737002;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|CR1|CR1|transcript|NM_000651.4|protein_coding|34/47|c.5573C>T|p.Thr1858Met|5713/9966|5573/7470|1858/2489||,T|missense_variant|MODERATE|CR1|CR1|transcript|NM_000573.3|protein_coding|26/39|c.4223C>T|p.Thr1408Met|4363/8616|4223/6120|1408/2039||;p3_1000G_AA=C|||;p3_1000G_AC=1246;p3_1000G_AF=0.248802;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=20146;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.2873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207760773;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=272,3364;ESP6500_AA_GTC=11,250,1557;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=132;ESP6500_EA_AC=2253,5915;ESP6500_EA_GTC=327,1599,2158;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000651.4:missense,NM_000573.3:missense;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207587428;ESP6500_GS=81,81;ESP6500_GTC=338,1849,3715;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.5573C>T,NM_000573.3:c.4223C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000651.4:p.(T1858M),NM_000573.3:p.(T1408M);ESP6500_MAF=27.5833,7.4807,21.3911;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=2525,9279	GT:AD:DP:GQ:PL	0/1:17,10:27:99:218,0,558
chr1	207609571	rs4844609	A	T	1159.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.35;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4844609;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|CR1|CR1|transcript|NM_000651.4|protein_coding|37/47|c.6178A>T|p.Thr2060Ser|6318/9966|6178/7470|2060/2489||,T|missense_variant|MODERATE|CR1|CR1|transcript|NM_000573.3|protein_coding|29/39|c.4828A>T|p.Thr1610Ser|4968/8616|4828/6120|1610/2039||;p3_1000G_AA=T|||;p3_1000G_AC=4983;p3_1000G_AF=0.995008;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19811;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207782916;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3818,16;ESP6500_AA_GTC=1901,16,0;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=45;ESP6500_EA_AC=8041,207;ESP6500_EA_GTC=3921,199,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000651.4:missense,NM_000573.3:missense;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207609571;ESP6500_GS=58,58;ESP6500_GTC=5822,215,4;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.6178A>T,NM_000573.3:c.4828A>T;ESP6500_HGVS_PROTEIN_VAR=NM_000651.4:p.(T2060S),NM_000573.3:p.(T1610S);ESP6500_MAF=2.5097,0.4173,1.8457;ESP6500_PH=benign:0.003,benign:0.003;ESP6500_TAC=11859,223	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1188,111,0
chr1	207609586	rs6691117	A	G	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.31;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.47;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6691117;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CR1|CR1|transcript|NM_000651.4|protein_coding|37/47|c.6193A>G|p.Ile2065Val|6333/9966|6193/7470|2065/2489||,G|missense_variant|MODERATE|CR1|CR1|transcript|NM_000573.3|protein_coding|29/39|c.4843A>G|p.Ile1615Val|4983/8616|4843/6120|1615/2039||;p3_1000G_AA=G|||;p3_1000G_AC=2471;p3_1000G_AF=0.493411;p3_1000G_AFR_AF=0.8722;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19776;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207782931;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2892,958;ESP6500_AA_GTC=1089,714,122;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=1761,6497;ESP6500_EA_GTC=162,1437,2530;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000651.4:missense,NM_000573.3:missense;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207609586;ESP6500_GS=29,29;ESP6500_GTC=1251,2151,2652;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.6193A>G,NM_000573.3:c.4843A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000651.4:p.(I2065V),NM_000573.3:p.(I1615V);ESP6500_MAF=21.3248,24.8831,38.4291;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=4653,7455	GT:AD:DP:GQ:PL	0/1:19,19:38:99:457,0,476
chr1	207611623	rs3818361	A	G	3081.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.44;SOR=1.42;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3818361;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding|37/46|c.6296-54A>G||||||,G|intron_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding|29/38|c.4946-54A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3763;p3_1000G_AF=0.751398;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=22013;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.8161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207784968;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3110,285,0
chr1	207616743	rs3811381	C	G	1334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.862;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=2.49;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-1.191;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811381;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|CR1|CR1|transcript|NM_000651.4|protein_coding|41/47|c.6830C>G|p.Pro2277Arg|6970/9966|6830/7470|2277/2489||,G|missense_variant|MODERATE|CR1|CR1|transcript|NM_000573.3|protein_coding|33/39|c.5480C>G|p.Pro1827Arg|5620/8616|5480/6120|1827/2039||;p3_1000G_AA=C|||;p3_1000G_AC=1316;p3_1000G_AF=0.26278;p3_1000G_AFR_AF=0.1172;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=19452;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.1809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207790088;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=498,3414;ESP6500_AA_GTC=34,430,1492;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=147;ESP6500_EA_AC=1508,6762;ESP6500_EA_GTC=125,1258,2752;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000651.4:missense,NM_000573.3:missense;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207616743;ESP6500_GS=103,103;ESP6500_GTC=159,1688,4244;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.6830C>G,NM_000573.3:c.5480C>G;ESP6500_HGVS_PROTEIN_VAR=NM_000651.4:p.(P2277R),NM_000573.3:p.(P1827R);ESP6500_MAF=18.2346,12.7301,16.4669;ESP6500_PH=possibly-damaging:0.643,possibly-damaging:0.643;ESP6500_TAC=2006,10176	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1363,0,1451
chr1	207621975	rs2296160	A	G	1917.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296160;dbSNPBuildID=100;ANN=G|missense_variant&splice_region_variant|MODERATE|CR1|CR1|transcript|NM_000651.4|protein_coding|44/47|c.7255A>G|p.Thr2419Ala|7395/9966|7255/7470|2419/2489||,G|missense_variant&splice_region_variant|MODERATE|CR1|CR1|transcript|NM_000573.3|protein_coding|36/39|c.5905A>G|p.Thr1969Ala|6045/8616|5905/6120|1969/2039||;p3_1000G_AA=G|||;p3_1000G_AC=4147;p3_1000G_AF=0.828075;p3_1000G_AFR_AF=0.8162;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=17855;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.8221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207795320;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3108,694;ESP6500_AA_GTC=1274,560,67;ESP6500_CDS_SIZES=NM_000651.4:7470,NM_000573.3:6120;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=189;ESP6500_EA_AC=6750,1514;ESP6500_EA_GTC=2754,1242,136;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000651.4:missense,NM_000573.3:missense;ESP6500_GL=CR1;ESP6500_GRCh38_POSITION=1:207621975;ESP6500_GS=58,58;ESP6500_GTC=4028,1802,203;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000651.4:c.7255A>G,NM_000573.3:c.5905A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000651.4:p.(T2419A),NM_000573.3:p.(T1969A);ESP6500_MAF=18.3204,18.2536,18.2994;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9858,2208	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1946,189,0
chr1	207645374	rs11118237	G	A	664.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.103;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.695;SOR=0.852;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11118237;dbSNPBuildID=120;ANN=A|sequence_feature|LOW|CR1L|CR1L|domain:Sushi_1|NM_175710.1|protein_coding|1/11|c.97+44G>A||||||,A|downstream_gene_variant|MODIFIER|CR1|CR1|transcript|NM_000651.4|protein_coding||c.*5965G>A|||||3609|,A|downstream_gene_variant|MODIFIER|CR1|CR1|transcript|NM_000573.3|protein_coding||c.*5965G>A|||||3609|,A|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|1/11|c.97+44G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1465;p3_1000G_AF=0.292532;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=14542;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.3767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207818719;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=961,3445;ESP6500_AA_AGE=328.3+/-300.5;ESP6500_AA_GTC=107,747,1349;ESP6500_CDS_SIZES=NM_175710.1:1710;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=3442,5156;ESP6500_EA_AGE=486.0+/-371.8;ESP6500_EA_GTC=693,2056,1550;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175710.1:intron;ESP6500_GL=CR1L;ESP6500_GRCh38_POSITION=1:207645374;ESP6500_GTC=800,2803,2899;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_175710.1:c.97+44G>A;ESP6500_MAF=40.0326,21.8112,33.8588;ESP6500_TAC=4403,8601	GT:AD:DP:GQ:PL	0/1:19,26:45:99:693,0,533
chr1	207677372	rs74231794	G	A	531.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.977;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=0.728;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74231794;dbSNPBuildID=130;ANN=A|sequence_feature|LOW|CR1L|CR1L|domain:Sushi_1|NM_175710.1|protein_coding|1/11|c.98-17G>A||||||,A|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|1/11|c.98-17G>A||||||;p3_1000G_AA=N|||;p3_1000G_AC=607;p3_1000G_AF=0.121206;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=15156;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207850717;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=94,3654;ESP6500_AA_GTC=0,94,1780;ESP6500_CDS_SIZES=NM_175710.1:1710;ESP6500_CG=1.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=111;ESP6500_EA_AC=511,7677;ESP6500_EA_GTC=14,483,3597;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175710.1:intron;ESP6500_GL=CR1L;ESP6500_GRCh38_POSITION=1:207677372;ESP6500_GTC=14,577,5377;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_175710.1:c.98-17G>A;ESP6500_MAF=6.2408,2.508,5.0687;ESP6500_TAC=605,11331	GT:AD:DP:GQ:PL	0/1:10,19:29:99:560,0,295
chr1	207678142	rs3215758;rs397840139	T	TA	502.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.767;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=3.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.553;SOR=0.301;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3215758;dbSNPBuildID=137,138;ANN=TA|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|2/11|c.278-47dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(ALL_OTHER_Ns);p3_1000G_AC=606;p3_1000G_AF=0.121006;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=19873;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207851487;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:18,23:41:99:540,0,390
chr1	207678266	rs2296158	A	G	1762.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=0.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296158;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CR1L|CR1L|transcript|NM_175710.1|protein_coding|3/12|c.346A>G|p.Arg116Gly|467/1837|346/1710|116/569||;p3_1000G_AA=N|||;p3_1000G_AC=2637;p3_1000G_AF=0.526558;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=21965;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.492;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207851611;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1799,1957;ESP6500_AA_GTC=420,959,499;ESP6500_CDS_SIZES=NM_175710.1:1710;ESP6500_CG=2.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=149;ESP6500_EA_AC=4309,3941;ESP6500_EA_GTC=1127,2055,943;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_175710.1:missense;ESP6500_GL=CR1L;ESP6500_GRCh38_POSITION=1:207678266;ESP6500_GS=125;ESP6500_GTC=1547,3014,1442;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175710.1:c.346A>G;ESP6500_HGVS_PROTEIN_VAR=NM_175710.1:p.(R116G);ESP6500_MAF=47.7697,47.8967,49.1254;ESP6500_PH=benign:0.0;ESP6500_TAC=6108,5898	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1791,185,0
chr1	207683813	rs12411037	T	C	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.599;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.06;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=1.11;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12411037;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|3/11|c.378-59T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1492;p3_1000G_AF=0.297923;p3_1000G_AFR_AF=0.1906;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=17786;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.3787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207857158;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,10:24:99:215,0,375
chr1	207683909	rs3085	A	G	653.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=1.17;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3085;dbSNPBuildID=36;ANN=G|missense_variant|MODERATE|CR1L|CR1L|transcript|NM_175710.1|protein_coding|4/12|c.415A>G|p.Ile139Val|536/1837|415/1710|139/569||;p3_1000G_AA=N|||;p3_1000G_AC=807;p3_1000G_AF=0.161142;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=20001;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207857254;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=141,3869;ESP6500_AA_GTC=1,139,1865;ESP6500_CDS_SIZES=NM_175710.1:1710;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=170;ESP6500_EA_AC=951,7415;ESP6500_EA_GTC=55,841,3287;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_175710.1:missense;ESP6500_GL=CR1L;ESP6500_GRCh38_POSITION=1:207683909;ESP6500_GS=29;ESP6500_GTC=56,980,5152;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175710.1:c.415A>G;ESP6500_HGVS_PROTEIN_VAR=NM_175710.1:p.(I139V);ESP6500_MAF=11.3674,3.5162,8.8235;ESP6500_PH=benign:0.005;ESP6500_TAC=1092,11284	GT:AD:DP:GQ:PL	0/1:19,25:44:99:682,0,445
chr1	207697337	rs111340461	A	C	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.15;ReadPosRankSum=0.967;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111340461;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|5/11|c.863-166A>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=614;p3_1000G_AF=0.122604;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=22960;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207870682;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:306,0,115
chr1	207699162	rs41313728	G	A	756.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.148;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.533;MLEAC=1;MLEAF=0.5;MQ=57.47;MQRankSum=-3.692;QD=13.28;ReadPosRankSum=-0.019;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41313728;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|7/11|c.1143-27G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.1936;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=18919;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207872507;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=671,3055;ESP6500_AA_GTC=62,547,1254;ESP6500_CDS_SIZES=NM_175710.1:1710;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=185;ESP6500_EA_AC=951,7233;ESP6500_EA_GTC=57,837,3198;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175710.1:intron;ESP6500_GL=CR1L;ESP6500_GRCh38_POSITION=1:207699162;ESP6500_GTC=119,1384,4452;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_175710.1:c.1143-27G>A;ESP6500_MAF=11.6202,18.0086,13.6188;ESP6500_TAC=1622,10288	GT:AD:DP:GQ:PL	0/1:26,31:57:99:785,0,726
chr1	207701771	rs150293968	GAGA	G	1195.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.396;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.66;ReadPosRankSum=-0.05;SOR=0.489;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs150293968;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|9/11|c.1328+157_1328+159delAGA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=611;p3_1000G_AF=0.122005;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=22659;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207875116;p3_1000G_GRCH37_REF=GAGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,30:39:99:1233,0,352
chr1	207708140	rs11302038	TA	T	3067.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27;SOR=1.263;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11302038;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|9/11|c.1329-37delA||||||;p3_1000G_AA=a|A|-|deletion;p3_1000G_AC=3727;p3_1000G_AF=0.744209;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=18511;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207881485;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=INDEL;ESP6500_AA_AC=2628,1044;ESP6500_AA_GTC=961,706,169;ESP6500_CDS_SIZES=NM_175710.1:1710;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=147;ESP6500_EA_AC=4438,3440;ESP6500_EA_GTC=1240,1958,741;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175710.1:intron;ESP6500_GL=CR1L;ESP6500_GRCh38_POSITION=1:207708140;ESP6500_GTC=2201,2664,910;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_175710.1:c.1329-37del1;ESP6500_MAF=43.6659,28.4314,38.8225;ESP6500_TAC=7066,4484	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,68:68:99:1|1:207708140_TA_T:3105,208,0
chr1	207708144	rs35438924	T	G	3076.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.7;SOR=1.296;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35438924;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|9/11|c.1329-34T>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3534;p3_1000G_AF=0.705671;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=18280;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.5626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207881489;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,69:69:99:1|1:207708140_TA_T:3105,208,0
chr1	207708146	rs34277355	C	A	3076.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.78;SOR=1.296;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34277355;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|9/11|c.1329-32C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=3534;p3_1000G_AF=0.705671;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=18375;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.5626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207881491;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2612,1180;ESP6500_AA_GTC=984,644,268;ESP6500_CDS_SIZES=NM_175710.1:1710;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=165;ESP6500_EA_AC=4348,3860;ESP6500_EA_GTC=1293,1762,1049;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175710.1:intron;ESP6500_GL=CR1L;ESP6500_GRCh38_POSITION=1:207708146;ESP6500_GTC=2277,2406,1317;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_175710.1:c.1329-32C>A;ESP6500_MAF=47.0273,31.1181,42.0;ESP6500_TAC=6960,5040	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,69:69:99:1|1:207708140_TA_T:3105,208,0
chr1	207708212	rs6683902	A	G	2923.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6683902;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CR1L|CR1L|transcript|NM_175710.1|protein_coding|10/12|c.1363A>G|p.Ile455Val|1484/1837|1363/1710|455/569||;p3_1000G_AA=a|||;p3_1000G_AC=3532;p3_1000G_AF=0.705272;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=19952;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.5626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207881557;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2752,1040;ESP6500_AA_GTC=993,766,137;ESP6500_CDS_SIZES=NM_175710.1:1710;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=272;ESP6500_EA_AC=4665,3559;ESP6500_EA_GTC=1299,2067,746;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175710.1:missense;ESP6500_GL=CR1L;ESP6500_GRCh38_POSITION=1:207708212;ESP6500_GS=29;ESP6500_GTC=2292,2833,883;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175710.1:c.1363A>G;ESP6500_HGVS_PROTEIN_VAR=NM_175710.1:p.(I455V);ESP6500_MAF=43.2758,27.4262,38.274;ESP6500_PH=benign:0.0;ESP6500_TAC=7417,4599	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2952,276,0
chr1	207710562	rs3927459	T	G	3169.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.43;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3927459;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|10/11|c.1414+2299T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=3695;p3_1000G_AF=0.737819;p3_1000G_AFR_AF=0.8865;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=19720;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207883907;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,90:90:99:3198,270,0
chr1	207710760	rs10779386	C	A	1895.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.25;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10779386;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|10/11|c.1414+2497C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=3646;p3_1000G_AF=0.728035;p3_1000G_AFR_AF=0.7526;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18999;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207884105;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:207710760_C_A:1924,129,0
chr1	207710762	rs10779387	G	A	1895.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.19;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10779387;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|10/11|c.1414+2499G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=3646;p3_1000G_AF=0.728035;p3_1000G_AFR_AF=0.7526;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=19070;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207884107;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:207710760_C_A:1924,129,0
chr1	207715394	rs7553211	G	T	3259.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.96;QD=31.34;SOR=1.702;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7553211;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CR1L|CR1L|transcript|NM_175710.1|protein_coding|10/11|c.1415-2070G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.3941;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=18101;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207888739;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3288,312,0
chr1	207761142	rs2466572	A	C	519.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.18;QD=27.36;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2466572;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172359.2|protein_coding|4/12|c.476-107A>C||||||,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_002389.4|protein_coding|4/13|c.476-107A>C||||||,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_153826.3|protein_coding|4/11|c.476-107A>C||||||,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172350.2|protein_coding|4/9|c.476-107A>C||||||,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172351.2|protein_coding|4/12|c.476-107A>C||||||,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172352.2|protein_coding|4/11|c.476-107A>C||||||,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172353.2|protein_coding|4/10|c.476-107A>C||||||,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172361.2|protein_coding|4/9|c.476-107A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4174;p3_1000G_AF=0.833466;p3_1000G_AFR_AF=0.7844;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=18211;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.7972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207934487;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:548,57,0
chr1	207767846	rs2724374	G	T	393.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2724374;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172359.2|protein_coding|8/12|c.946+23G>T||||||,T|intron_variant|MODIFIER|CD46|CD46|transcript|NM_002389.4|protein_coding|8/13|c.946+23G>T||||||,T|intron_variant|MODIFIER|CD46|CD46|transcript|NM_153826.3|protein_coding|7/11|c.901+23G>T||||||,T|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172350.2|protein_coding|6/9|c.856+651G>T||||||,T|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172351.2|protein_coding|7/12|c.901+23G>T||||||,T|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172352.2|protein_coding|6/11|c.856+651G>T||||||,T|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172353.2|protein_coding|6/10|c.856+651G>T||||||,T|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172361.2|protein_coding|6/9|c.856+651G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4172;p3_1000G_AF=0.833067;p3_1000G_AFR_AF=0.7844;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=15633;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.7942;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207941191;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8579;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3520,884;ESP6500_AA_AGE=324.2+/-298.5;ESP6500_AA_GTC=1413,694,95;ESP6500_CDS_SIZES=NM_172361.2:1068,NM_172359.2:1200,NM_172353.2:1110,NM_172352.2:1089,NM_172351.2:1134,NM_172350.2:1050,NM_153826.3:1155,NM_002389.4:1179;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=6741,1859;ESP6500_EA_AGE=313.0+/-311.1;ESP6500_EA_GTC=2642,1457,201;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172361.2:intron,NM_172359.2:intron,NM_172353.2:intron,NM_172352.2:intron,NM_172351.2:intron,NM_172350.2:intron,NM_153826.3:intron,NM_002389.4:intron;ESP6500_GL=CD46;ESP6500_GRCh38_POSITION=1:207767846;ESP6500_GTC=4055,2151,296;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_172361.2:c.856+651G>T,NM_172359.2:c.946+23G>T,NM_172353.2:c.856+651G>T,NM_172352.2:c.856+651G>T,NM_172351.2:c.901+23G>T,NM_172350.2:c.856+651G>T,NM_153826.3:c.901+23G>T,NM_002389.4:c.946+23G>T;ESP6500_MAF=21.6163,20.0727,21.0935;ESP6500_TAC=10261,2743	GT:AD:DP:GQ:PL	1/1:0,12:12:36:422,36,0
chr1	207785777	rs878945755	CTTT	C	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.01;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=147;ANN=C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172359.2|protein_coding|12/12|c.1127+107_1127+109delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_002389.4|protein_coding|12/13|c.1127+107_1127+109delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_153826.3|protein_coding|11/11|c.1082+107_1082+109delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172350.2|protein_coding|9/9|c.973+683_973+685delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172351.2|protein_coding|11/12|c.1082+107_1082+109delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172352.2|protein_coding|10/11|c.1037+107_1037+109delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172353.2|protein_coding|10/10|c.1037+107_1037+109delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172361.2|protein_coding|9/9|c.995+107_995+109delTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:207785777_CTTT_C:180,12,0
chr1	207785791	rs1459310361;rs373519619	T	TAA	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs373519619;dbSNPBuildID=151,138;ANN=TAA|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172359.2|protein_coding|12/12|c.1127+115_1127+116dupAA||||||INFO_REALIGN_3_PRIME,TAA|intron_variant|MODIFIER|CD46|CD46|transcript|NM_002389.4|protein_coding|12/13|c.1127+115_1127+116dupAA||||||INFO_REALIGN_3_PRIME,TAA|intron_variant|MODIFIER|CD46|CD46|transcript|NM_153826.3|protein_coding|11/11|c.1082+115_1082+116dupAA||||||INFO_REALIGN_3_PRIME,TAA|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172350.2|protein_coding|9/9|c.973+691_973+692dupAA||||||INFO_REALIGN_3_PRIME,TAA|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172351.2|protein_coding|11/12|c.1082+115_1082+116dupAA||||||INFO_REALIGN_3_PRIME,TAA|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172352.2|protein_coding|10/11|c.1037+115_1037+116dupAA||||||INFO_REALIGN_3_PRIME,TAA|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172353.2|protein_coding|10/10|c.1037+115_1037+116dupAA||||||INFO_REALIGN_3_PRIME,TAA|intron_variant|MODIFIER|CD46|CD46|transcript|NM_172361.2|protein_coding|9/9|c.995+115_995+116dupAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:207785777_CTTT_C:180,12,0
chr1	207888185	rs2235766	A	G	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.71;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=6.396;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.52;ReadPosRankSum=-0.861;SOR=1.821;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235766;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001025109.1|protein_coding|7/7|c.973-262T>C||||||,G|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001773.2|protein_coding|7/7|c.973-67T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=892;p3_1000G_AF=0.178115;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=14166;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.0954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208061530;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=200,1184;ESP6500_AA_GTC=17,166,509;ESP6500_CDS_SIZES=NM_001773.2:987,NM_001025109.1:1158;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=37;ESP6500_EA_AC=320,2862;ESP6500_EA_GTC=20,280,1291;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001773.2:intron,NM_001025109.1:intron;ESP6500_GL=CD34;ESP6500_GRCh38_POSITION=1:207888185;ESP6500_GTC=37,446,1800;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001773.2:c.973-67T>C,NM_001025109.1:c.973-262T>C;ESP6500_MAF=10.0566,14.4509,11.3885;ESP6500_TAC=520,4046	GT:AD:DP:GQ:PL	0/1:24,8:32:99:173,0,565
chr1	207888915	rs2745952	T	C	695.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2745952;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001025109.1|protein_coding|6/7|c.808-69A>G||||||,C|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001773.2|protein_coding|6/7|c.808-69A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3831;p3_1000G_AF=0.764976;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=18776;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208062260;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:724,60,0
chr1	207889126	rs2073070;rs77775474	A	C	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.472;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.796;SOR=0.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370805940,rs2073070;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001025109.1|protein_coding|6/7|c.807+35T>G||||||,C|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001773.2|protein_coding|6/7|c.807+35T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1397;p3_1000G_AF=0.278954;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=16995;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.2773;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208062471;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=805,3601;ESP6500_AA_AGE=315.8+/-294.3;ESP6500_AA_GTC=83,639,1481;ESP6500_CDS_SIZES=NM_001773.2:987,NM_001025109.1:1158;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=110;ESP6500_EA_AC=2403,6197;ESP6500_EA_AGE=391.5+/-343.7;ESP6500_EA_GTC=326,1751,2223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001773.2:intron,NM_001025109.1:intron;ESP6500_GL=CD34;ESP6500_GRCh38_POSITION=1:207889126;ESP6500_GTC=409,2390,3704;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001773.2:c.807+35T>G,NM_001025109.1:c.807+35T>G;ESP6500_MAF=27.9419,18.2705,24.6655;ESP6500_TAC=3208,9798	GT:AD:DP:GQ:PL	0/1:11,11:22:99:290,0,278
chr1	207889722	rs2179634	G	A	517.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.858;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.261;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=1.17;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2179634;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001025109.1|protein_coding|4/7|c.598-101C>T||||||,A|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001773.2|protein_coding|4/7|c.598-101C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1167;p3_1000G_AF=0.233027;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=17170;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0.3559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208063067;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=346,1406;ESP6500_AA_GTC=33,280,563;ESP6500_CDS_SIZES=NM_001773.2:987,NM_001025109.1:1158;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=38;ESP6500_EA_AC=1350,2632;ESP6500_EA_GTC=243,864,884;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001773.2:intron,NM_001025109.1:intron;ESP6500_GL=CD34;ESP6500_GRCh38_POSITION=1:207889722;ESP6500_GTC=276,1144,1447;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001773.2:c.598-101C>T,NM_001025109.1:c.598-101C>T;ESP6500_MAF=33.9026,19.7489,29.578;ESP6500_TAC=1696,4038	GT:AD:DP:GQ:PL	0/1:18,21:39:99:546,0,488
chr1	207889755	rs3043874;rs397861623;rs546561927	GA	G	531.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.29;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.27;ReadPosRankSum=-1.349;SOR=0.458;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3043874;dbSNPBuildID=138,138;ANN=G|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001025109.1|protein_coding|4/7|c.598-135delT||||||,G|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001773.2|protein_coding|4/7|c.598-135delT||||||;p3_1000G_AC=400;p3_1000G_AF=0.0798722;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=18762;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.0089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208063100;p3_1000G_GRCH37_REF=GA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:1,16:17:99:569,204,272
chr1	207889755	rs3043874;rs546561927	GA	GAA	531.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.29;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.27;ReadPosRankSum=-1.349;SOR=0.458;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3043874;ANN=GAA|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001025109.1|protein_coding|4/7|c.598-136dupT||||||,GAA|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001773.2|protein_coding|4/7|c.598-136dupT||||||;p3_1000G_AC=2442;p3_1000G_AF=0.48762;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=18762;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208063100;p3_1000G_GRCH37_REF=GA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,8:9:99:569,410,519
chr1	207899281	rs12029239	A	C	1148.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12029239;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001025109.1|protein_coding|2/7|c.263-55T>G||||||,C|intron_variant|MODIFIER|CD34|CD34|transcript|NM_001773.2|protein_coding|2/7|c.263-55T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1476;p3_1000G_AF=0.294728;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=23970;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.1243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208072626;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1177,105,0
chr1	208027392	rs659192	C	G	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.062;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.646;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs659192;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|31/31|c.5590-54G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=901;p3_1000G_AF=0.179912;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=21255;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208200737;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=54,1330;ESP6500_AA_GTC=0,54,638;ESP6500_CDS_SIZES=NM_025179.3:5685;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=20;ESP6500_EA_AC=481,2701;ESP6500_EA_GTC=43,395,1153;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025179.3:intron;ESP6500_GL=PLXNA2;ESP6500_GRCh38_POSITION=1:208027392;ESP6500_GTC=43,449,1791;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_025179.3:c.5590-54G>C;ESP6500_MAF=15.1163,3.9017,11.717;ESP6500_TAC=535,4031	GT:AD:DP:GQ:PL	0/1:9,13:22:99:347,0,275
chr1	208038542	rs905100	T	C	647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.48;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs905100;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|25/31|c.4661-68A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.7337;p3_1000G_AMR_AF=0.8646;p3_1000G_AN=5008;p3_1000G_DP=17499;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.9791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208211887;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9632;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:676,48,0
chr1	208039052	rs2767566	A	G	655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.84;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2767566;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|24/31|c.4501-68T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2423;p3_1000G_AF=0.483826;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=20653;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208212397;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:684,51,0
chr1	208039478	rs1359769	C	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.044;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=4.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.21;ReadPosRankSum=1.47;SOR=0.074;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1359769;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|24/31|c.4500+143G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=978;p3_1000G_AF=0.195288;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=11849;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.1471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208212823;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:96:96,0,286
chr1	208039780	rs1751580	A	G	2582.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1751580;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|23/31|c.4354-13T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4779;p3_1000G_AF=0.954273;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=14459;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208213125;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3822,584;ESP6500_AA_AGE=258.6+/-262.5;ESP6500_AA_GTC=1653,516,34;ESP6500_CDS_SIZES=NM_025179.3:5685;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=52;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025179.3:intron;ESP6500_GL=PLXNA2;ESP6500_GRCh38_POSITION=1:208039780;ESP6500_GTC=5951,518,34;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_025179.3:c.4354-13T>C;ESP6500_MAF=0.0233,13.2547,4.5056;ESP6500_TAC=12420,586	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2611,228,0
chr1	208045819	rs1536471	A	C	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.546;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.245;SOR=0.288;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1536471;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|18/31|c.3495+59T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3782;p3_1000G_AF=0.755192;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=18063;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.836;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208219164;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,16:36:99:430,0,619
chr1	208052564	rs841865	G	A	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.571;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs841865;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|14/31|c.2857-101C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=907;p3_1000G_AF=0.18111;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=19767;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.1551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208225909;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:152,0,256
chr1	208082532	rs6540453	T	C	509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.552;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.821;SOR=0.922;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6540453;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|10/31|c.2299-24A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2824;p3_1000G_AF=0.563898;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=18936;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208255877;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2141,2265;ESP6500_AA_AGE=594.7+/-388.3;ESP6500_AA_GTC=505,1131,567;ESP6500_CDS_SIZES=NM_025179.3:5685;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=55;ESP6500_EA_AC=6007,2593;ESP6500_EA_AGE=418.6+/-352.8;ESP6500_EA_GTC=2104,1799,397;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025179.3:intron;ESP6500_GL=PLXNA2;ESP6500_GRCh38_POSITION=1:208082532;ESP6500_GTC=2609,2930,964;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_025179.3:c.2299-24A>G;ESP6500_MAF=30.1512,48.5928,37.352;ESP6500_TAC=8148,4858	GT:AD:DP:GQ:PL	0/1:18,21:39:99:538,0,440
chr1	208096899	rs3818517	A	C	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.356;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.654;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818517;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|6/31|c.1732-16T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1509;p3_1000G_AF=0.301318;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=17136;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.3817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208270244;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1086,3320;ESP6500_AA_AGE=383.0+/-324.7;ESP6500_AA_GTC=125,836,1242;ESP6500_CDS_SIZES=NM_025179.3:5685;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=39;ESP6500_EA_AC=2999,5601;ESP6500_EA_AGE=455.6+/-363.8;ESP6500_EA_GTC=517,1965,1818;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025179.3:intron;ESP6500_GL=PLXNA2;ESP6500_GRCh38_POSITION=1:208096899;ESP6500_GTC=642,2801,3060;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_025179.3:c.1732-16T>G;ESP6500_MAF=34.8721,24.6482,31.4086;ESP6500_TAC=4085,8921	GT:AD:DP:GQ:PL	0/1:5,8:13:99:207,0,115
chr1	208103054	rs10654695;rs397764739	C	CCTCT	1795.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10654695;dbSNPBuildID=137,138;ANN=CCTCT|intron_variant|MODIFIER|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|5/31|c.1607+89_1607+92dupAGAG||||||;p3_1000G_AC=4726;p3_1000G_AF=0.94369;p3_1000G_AFR_AF=0.7995;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=22872;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208276399;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1833,123,0
chr1	208217124	rs3748735	C	T	736.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.662;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-1.354;SOR=0.768;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748735;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|2/32|c.799G>A|p.Ala267Thr|1557/11443|799/5685|267/1894||;p3_1000G_AA=C|||;p3_1000G_AC=699;p3_1000G_AF=0.139577;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=19639;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.1988;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208390469;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=386,4020;ESP6500_AA_AGE=195.3+/-220.0;ESP6500_AA_GTC=19,348,1836;ESP6500_CDS_SIZES=NM_025179.3:5685;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=114;ESP6500_EA_AC=1686,6914;ESP6500_EA_AGE=308.6+/-309.0;ESP6500_EA_GTC=189,1308,2803;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025179.3:missense;ESP6500_GL=PLXNA2;ESP6500_GRCh38_POSITION=1:208217124;ESP6500_GS=58;ESP6500_GTC=208,1656,4639;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025179.3:c.799G>A;ESP6500_HGVS_PROTEIN_VAR=NM_025179.3:p.(A267T);ESP6500_MAF=19.6047,8.7608,15.9311;ESP6500_PH=possibly-damaging:0.649;ESP6500_TAC=2072,10934	GT:AD:DP:GQ:PL	0/1:34,27:61:99:765,0,1112
chr1	208217753	rs11119014	T	C	1054.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.004;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=1.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.315;SOR=0.958;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11119014;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|PLXNA2|PLXNA2|transcript|NM_025179.3|protein_coding|2/32|c.170A>G|p.Gln57Arg|928/11443|170/5685|57/1894||;p3_1000G_AA=C|||;p3_1000G_AC=432;p3_1000G_AF=0.086262;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=18144;p3_1000G_EAS_AF=0.1448;p3_1000G_EUR_AF=0.0537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208391098;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=129,4277;ESP6500_AA_AGE=814.4+/-416.2;ESP6500_AA_GTC=1,127,2075;ESP6500_CDS_SIZES=NM_025179.3:5685;ESP6500_CG=1.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=563,8037;ESP6500_EA_AGE=793.4+/-407.5;ESP6500_EA_GTC=15,533,3752;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025179.3:missense;ESP6500_GL=PLXNA2;ESP6500_GRCh38_POSITION=1:208217753;ESP6500_GS=43;ESP6500_GTC=16,660,5827;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_025179.3:c.170A>G;ESP6500_HGVS_PROTEIN_VAR=NM_025179.3:p.(Q57R);ESP6500_MAF=6.5465,2.9278,5.3206;ESP6500_PH=benign:0.0;ESP6500_TAC=692,12314	GT:AD:DP:GQ:PL	0/1:44,43:87:99:1083,0,1132
chr1	209432291	rs3842530;rs74820836;rs756110851	TAGCAGCAGCAGC	T	677.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=4.341;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.368;SOR=0.435;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs74820836,rs3842530;dbSNPBuildID=135,144,131;ANN=T|conservative_inframe_deletion|MODERATE|MIR205HG|MIR205HG|transcript|NM_001104548.1|protein_coding|4/4|c.280_291delGCAGCAGCAGCA|p.Ala94_Ala97del|663/890|280/309|94/102||INFO_REALIGN_3_PRIME,T|downstream_gene_variant|MODIFIER|MIR205|MIR205|transcript|NR_029622.1|pseudogene||n.*50_*61delAGCAGCAGCAGC|||||50|	GT:AD:DP:GQ:PL	0/1:28,19:47:99:715,0,3375
chr1	209608072	rs143460578;rs35151738;rs66750598;rs71782038	TACAC	T	1311.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=35.55;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66750598,rs143460578,rs71782038,rs35151738;dbSNPBuildID=135,134,135,129;ANN=T|intron_variant|MODIFIER|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding|7/12|c.635+161_635+164delCACA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,30:30:98:1339,98,0
chr1	209608998	rs11119314	A	G	805.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11119314;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding|8/13|c.654A>G|p.Pro218Pro|756/2470|654/1431|218/476||,G|sequence_feature|LOW|CAMK1G|CAMK1G|turn:combinatorial_evidence_used_in_manual_assertion|NM_020439.2|protein_coding|8/13|c.654A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2732;p3_1000G_AF=0.545527;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=20101;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.3867;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209782343;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2909,1497;ESP6500_AA_AGE=675.5+/-403.1;ESP6500_AA_GTC=957,995,251;ESP6500_CDS_SIZES=NM_020439.2:1431;ESP6500_CG=-10.2;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=114;ESP6500_EA_AC=3346,5254;ESP6500_EA_AGE=497.4+/-374.5;ESP6500_EA_GTC=643,2060,1597;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020439.2:coding-synonymous;ESP6500_GL=CAMK1G;ESP6500_GRCh38_POSITION=1:209608998;ESP6500_GTC=1600,3055,1848;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020439.2:c.654A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020439.2:p.(P218);ESP6500_MAF=38.907,33.9764,48.0932;ESP6500_TAC=6255,6751	GT:AD:DP:GQ:PL	1/1:0,24:24:72:834,72,0
chr1	209611318	rs10746421	A	C	925.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10746421;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding||c.*3953T>G|||||3555|,C|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding||c.*3953T>G|||||3555|,C|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding||c.*3953T>G|||||3555|,C|intron_variant|MODIFIER|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding|9/12|c.828-147A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3894;p3_1000G_AF=0.777556;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=19472;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.6392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209784663;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:954,72,0
chr1	209611666	rs2076226	G	C	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.478;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.195;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076226;dbSNPBuildID=96;ANN=C|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding||c.*3605C>G|||||3207|,C|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding||c.*3605C>G|||||3207|,C|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding||c.*3605C>G|||||3207|,C|intron_variant|MODIFIER|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding|10/12|c.915+114G>C||||||	GT:AD:DP:GQ:PL	0/1:11,10:21:99:319,0,365
chr1	209612733	rs2272880	G	A	1194.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.45;SOR=1.259;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272880;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding||c.*2538C>T|||||2140|,A|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding||c.*2538C>T|||||2140|,A|downstream_gene_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding||c.*2538C>T|||||2140|,A|intron_variant|MODIFIER|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding|11/12|c.1341-52G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3798;p3_1000G_AF=0.758387;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=18863;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209786078;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2667,469;ESP6500_AA_GTC=1125,417,26;ESP6500_CDS_SIZES=NM_020439.2:1431;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=4472,2692;ESP6500_EA_GTC=1403,1666,513;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020439.2:intron;ESP6500_GL=CAMK1G;ESP6500_GRCh38_POSITION=1:209612733;ESP6500_GTC=2528,2083,539;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020439.2:c.1341-52G>A;ESP6500_MAF=37.5768,14.9554,30.6893;ESP6500_TAC=7139,3161	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1223,126,0
chr1	209615169	rs2566;295059	G	A	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.351;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.063;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2566;dbSNPBuildID=36;ANN=A|3_prime_UTR_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|23/23|c.*102C>T|||||102|,A|3_prime_UTR_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|22/22|c.*102C>T|||||102|,A|3_prime_UTR_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|23/23|c.*102C>T|||||102|,A|downstream_gene_variant|MODIFIER|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding||c.*2294G>A|||||1230|;p3_1000G_AA=G|||;p3_1000G_AC=1478;p3_1000G_AF=0.295128;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=17656;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209788514;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.2951;CLINVAR_ALLELEID=280031;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional;CLINVAR_CLNHGVS=NC_000001.11:g.209615169G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3555;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2566	GT:AD:DP:GQ:PL	0/1:12,13:25:99:315,0,412
chr1	209615358	rs1049607;255595	T	C	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.06;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1049607;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|23/23|c.3432A>G|p.Ser1144Ser|3576/4061|3432/3519|1144/1172||,C|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|22/22|c.3432A>G|p.Ser1144Ser|3822/4307|3432/3519|1144/1172||,C|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|23/23|c.3432A>G|p.Ser1144Ser|3550/4035|3432/3519|1144/1172||,C|downstream_gene_variant|MODIFIER|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding||c.*2483T>C|||||1419|;p3_1000G_AA=t|||;p3_1000G_AC=2320;p3_1000G_AF=0.463259;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=19698;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209788703;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2646,1760;ESP6500_AA_AGE=646.2+/-398.3;ESP6500_AA_GTC=791,1064,348;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-10.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=100;ESP6500_EA_AC=3088,5512;ESP6500_EA_AGE=471.9+/-368.2;ESP6500_EA_GTC=555,1978,1767;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:coding-synonymous,NM_001017402.1:coding-synonymous,NM_000228.2:coding-synonymous;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209615358;ESP6500_GTC=1346,3042,2115;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.3432A>G,NM_001017402.1:c.3432A>G,NM_000228.2:c.3432A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(S1144),NM_001017402.1:p.(S1144),NM_000228.2:p.(S1144);ESP6500_MAF=35.907,39.9455,44.0873;ESP6500_TAC=5734,7272;CLINVAR_AF_ESP=0.4409;CLINVAR_AF_EXAC=0.40190;CLINVAR_AF_TGP=0.4633;CLINVAR_ALLELEID=249679;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209615358T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3567;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1049607	GT:AD:DP:GQ:PL	0/1:25,17:42:99:464,0,610
chr1	209618584	rs2076222;255591	G	T	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=3.337;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.263;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076222;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|19/23|c.2777C>A|p.Ala926Asp|2921/4061|2777/3519|926/1172||,T|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|18/22|c.2777C>A|p.Ala926Asp|3167/4307|2777/3519|926/1172||,T|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|19/23|c.2777C>A|p.Ala926Asp|2895/4035|2777/3519|926/1172||,T|downstream_gene_variant|MODIFIER|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding||c.*5709G>T|||||4645|,T|downstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.*4860C>A|||||4860|;p3_1000G_AA=G|||;p3_1000G_AC=446;p3_1000G_AF=0.0890575;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=20091;p3_1000G_EAS_AF=0.2669;p3_1000G_EUR_AF=0.0209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209791929;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=37,4369;ESP6500_AA_AGE=40.8+/-73.8;ESP6500_AA_GTC=1,35,2167;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=87;ESP6500_EA_AC=193,8407;ESP6500_EA_AGE=85.3+/-147.7;ESP6500_EA_GTC=1,191,4108;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001127641.1:missense,NM_001017402.1:missense,NM_000228.2:missense;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209618584;ESP6500_GS=126,126,126;ESP6500_GTC=2,226,6275;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.2777C>A,NM_001017402.1:c.2777C>A,NM_000228.2:c.2777C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(A926D),NM_001017402.1:p.(A926D),NM_000228.2:p.(A926D);ESP6500_MAF=2.2442,0.8398,1.7684;ESP6500_PH=probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=230,12776;CLINVAR_AF_ESP=0.0177;CLINVAR_AF_EXAC=0.05581;CLINVAR_AF_TGP=0.0891;CLINVAR_ALLELEID=249680;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209618584G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59744|UniProtKB_(protein):Q13751#VAR_037314;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2076222	GT:AD:DP:GQ:PL	0/1:38,30:68:99:673,0,1088
chr1	209618670	rs1418651256;rs5780528;255590	A	AC	1323.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=2.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5780528;dbSNPBuildID=151;ANN=AC|downstream_gene_variant|MODIFIER|CAMK1G|CAMK1G|transcript|NM_020439.2|protein_coding||c.*5795_*5796insC|||||4732|,AC|downstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.*4773dupG|||||4773|,AC|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|18/22|c.2702-12dupG||||||,AC|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|17/21|c.2702-12dupG||||||,AC|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|18/22|c.2702-12dupG||||||;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=4926;p3_1000G_AF=0.983626;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=19044;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9394;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209792015;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=INDEL;ESP6500_AA_AC=4198,68;ESP6500_AA_GTC=2066,66,1;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=1.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=38;ESP6500_EA_AC=7719,535;ESP6500_EA_GTC=3606,507,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:intron,NM_001017402.1:intron,NM_000228.2:intron;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209618670;ESP6500_GTC=5672,573,15;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.2702-12_2702-11insG,NM_001017402.1:c.2702-12_2702-11insG,NM_000228.2:c.2702-12_2702-11insG;ESP6500_MAF=6.4817,1.594,4.8163;ESP6500_TAC=11917,603;CLINVAR_ALLELEID=249681;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000001.11:g.209618671dupC;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:495836;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=397807887	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1361,108,0
chr1	209622922	rs3737913	G	A	945.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.745;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.411;SOR=0.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737913;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.*522C>T|||||522|,A|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|17/22|c.2556+60C>T||||||,A|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|16/21|c.2556+60C>T||||||,A|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|17/22|c.2556+60C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1486;p3_1000G_AF=0.296725;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=17750;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209796267;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:46,41:87:99:974,0,1126
chr1	209623853	rs2072937;295095	A	G	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.859;SOR=0.628;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072937;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|15/23|c.2124T>C|p.Ser708Ser|2268/4061|2124/3519|708/1172||,G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|14/22|c.2124T>C|p.Ser708Ser|2514/4307|2124/3519|708/1172||,G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|15/23|c.2124T>C|p.Ser708Ser|2242/4035|2124/3519|708/1172||,G|upstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.-343T>C|||||343|;p3_1000G_AA=A|||;p3_1000G_AC=444;p3_1000G_AF=0.0886581;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=16361;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.0209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209797198;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=37,4369;ESP6500_AA_AGE=40.8+/-73.8;ESP6500_AA_GTC=1,35,2167;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=95;ESP6500_EA_AC=193,8407;ESP6500_EA_AGE=85.3+/-147.7;ESP6500_EA_GTC=1,191,4108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:coding-synonymous,NM_001017402.1:coding-synonymous,NM_000228.2:coding-synonymous;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209623853;ESP6500_GTC=2,226,6275;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.2124T>C,NM_001017402.1:c.2124T>C,NM_000228.2:c.2124T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(S708),NM_001017402.1:p.(S708),NM_000228.2:p.(S708);ESP6500_MAF=2.2442,0.8398,1.7684;ESP6500_TAC=230,12776;CLINVAR_AF_ESP=0.0177;CLINVAR_AF_EXAC=0.05566;CLINVAR_AF_TGP=0.0887;CLINVAR_ALLELEID=279994;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional;CLINVAR_CLNHGVS=NC_000001.11:g.209623853A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59755;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2072937	GT:AD:DP:GQ:PL	0/1:18,13:31:99:357,0,440
chr1	209623908	rs2229466;295096	T	C	604.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-1.747;SOR=0.824;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229466;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|15/23|c.2069A>G|p.Asn690Ser|2213/4061|2069/3519|690/1172||,C|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|14/22|c.2069A>G|p.Asn690Ser|2459/4307|2069/3519|690/1172||,C|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|15/23|c.2069A>G|p.Asn690Ser|2187/4035|2069/3519|690/1172||,C|upstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.-398A>G|||||398|;p3_1000G_AA=T|||;p3_1000G_AC=448;p3_1000G_AF=0.0894569;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=20458;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.0209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209797253;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=28,4378;ESP6500_AA_AGE=33.5+/-64.1;ESP6500_AA_GTC=1,26,2176;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=99;ESP6500_EA_AC=193,8407;ESP6500_EA_AGE=85.0+/-147.5;ESP6500_EA_GTC=1,191,4108;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001127641.1:missense,NM_001017402.1:missense,NM_000228.2:missense;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209623908;ESP6500_GS=46,46,46;ESP6500_GTC=2,217,6284;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.2069A>G,NM_001017402.1:c.2069A>G,NM_000228.2:c.2069A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(N690S),NM_001017402.1:p.(N690S),NM_000228.2:p.(N690S);ESP6500_MAF=2.2442,0.6355,1.6992;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=221,12785;CLINVAR_AF_ESP=0.0170;CLINVAR_AF_EXAC=0.05556;CLINVAR_AF_TGP=0.0895;CLINVAR_ALLELEID=280084;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional;CLINVAR_CLNHGVS=NC_000001.11:g.209623908T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59765|UniProtKB_(protein):Q13751#VAR_034061;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229466	GT:AD:DP:GQ:PL	0/1:17,21:38:99:633,0,426
chr1	209625860	rs2229465;295099	A	G	1369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.412;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229465;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|14/23|c.1764T>C|p.Tyr588Tyr|1908/4061|1764/3519|588/1172||,G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|13/22|c.1764T>C|p.Tyr588Tyr|2154/4307|1764/3519|588/1172||,G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|14/23|c.1764T>C|p.Tyr588Tyr|1882/4035|1764/3519|588/1172||,G|upstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.-2350T>C|||||2350|;p3_1000G_AA=A|||;p3_1000G_AC=471;p3_1000G_AF=0.0940495;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=17350;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209799205;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=25,4381;ESP6500_AA_AGE=29.9+/-59.1;ESP6500_AA_GTC=1,23,2179;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-4.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=35;ESP6500_EA_AC=196,8402;ESP6500_EA_AGE=85.3+/-147.7;ESP6500_EA_GTC=1,194,4104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:coding-synonymous,NM_001017402.1:coding-synonymous,NM_000228.2:coding-synonymous;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209625860;ESP6500_GTC=2,217,6283;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.1764T>C,NM_001017402.1:c.1764T>C,NM_000228.2:c.1764T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(Y588),NM_001017402.1:p.(Y588),NM_000228.2:p.(Y588);ESP6500_MAF=2.2796,0.5674,1.6995;ESP6500_TAC=221,12783;CLINVAR_AF_ESP=0.0170;CLINVAR_AF_EXAC=0.05908;CLINVAR_AF_TGP=0.0941;CLINVAR_ALLELEID=280098;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional;CLINVAR_CLNHGVS=NC_000001.11:g.209625860A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59783;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229465	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1398,0,1122
chr1	209625908	rs2179402;255587	A	G	2528.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.32;SOR=1.643;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2179402;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|14/23|c.1716T>C|p.Cys572Cys|1860/4061|1716/3519|572/1172||,G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|13/22|c.1716T>C|p.Cys572Cys|2106/4307|1716/3519|572/1172||,G|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|14/23|c.1716T>C|p.Cys572Cys|1834/4035|1716/3519|572/1172||,G|upstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.-2398T>C|||||2398|;p3_1000G_AA=G|||;p3_1000G_AC=3831;p3_1000G_AF=0.764976;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=17718;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.7326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209799253;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3380,1024;ESP6500_AA_AGE=360.4+/-315.2;ESP6500_AA_GTC=1302,776,124;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-5.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=28;ESP6500_EA_AC=6321,2279;ESP6500_EA_AGE=368.6+/-335.1;ESP6500_EA_GTC=2344,1633,323;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:coding-synonymous,NM_001017402.1:coding-synonymous,NM_000228.2:coding-synonymous;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209625908;ESP6500_GTC=3646,2409,447;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.1716T>C,NM_001017402.1:c.1716T>C,NM_000228.2:c.1716T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(C572),NM_001017402.1:p.(C572),NM_000228.2:p.(C572);ESP6500_MAF=26.5,23.2516,25.3999;ESP6500_TAC=9701,3303;CLINVAR_ALLELEID=249684;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209625908A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3576;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2179402	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2557,213,0
chr1	209626885	rs2076349;255586	C	T	2589.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=0.815;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076349;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|13/23|c.1579G>A|p.Val527Met|1723/4061|1579/3519|527/1172||,T|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|12/22|c.1579G>A|p.Val527Met|1969/4307|1579/3519|527/1172||,T|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|13/23|c.1579G>A|p.Val527Met|1697/4035|1579/3519|527/1172||,T|upstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.-3375G>A|||||3375|;p3_1000G_AA=C|||;p3_1000G_AC=1278;p3_1000G_AF=0.255192;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=20189;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209800230;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1119,3287;ESP6500_AA_AGE=391.2+/-328.0;ESP6500_AA_GTC=145,829,1229;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=46;ESP6500_EA_AC=233,8367;ESP6500_EA_AGE=93.3+/-155.3;ESP6500_EA_GTC=2,229,4069;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001127641.1:missense,NM_001017402.1:missense,NM_000228.2:missense;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209626885;ESP6500_GS=21,21,21;ESP6500_GTC=147,1058,5298;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.1579G>A,NM_001017402.1:c.1579G>A,NM_000228.2:c.1579G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(V527M),NM_001017402.1:p.(V527M),NM_000228.2:p.(V527M);ESP6500_MAF=2.7093,25.3972,10.3952;ESP6500_PH=possibly-damaging:0.596,possibly-damaging:0.596,possibly-damaging:0.596;ESP6500_TAC=1352,11654;CLINVAR_AF_ESP=0.1040;CLINVAR_AF_EXAC=0.12785;CLINVAR_AF_TGP=0.2552;CLINVAR_ALLELEID=249685;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209626885C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59798|UniProtKB_(protein):Q13751#VAR_037313;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2076349	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2618,255,0
chr1	209626996	rs2076350;255585	C	T	1681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076350;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.-3486G>A|||||3486|,T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|12/22|c.1486-18G>A||||||,T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|11/21|c.1486-18G>A||||||,T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|12/22|c.1486-18G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1288;p3_1000G_AF=0.257188;p3_1000G_AFR_AF=0.3185;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=19814;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209800341;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1099,3305;ESP6500_AA_GTC=138,823,1241;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=39;ESP6500_EA_AC=231,8363;ESP6500_EA_GTC=2,227,4068;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:intron,NM_001017402.1:intron,NM_000228.2:intron;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209626996;ESP6500_GTC=140,1050,5309;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.1486-18G>A,NM_001017402.1:c.1486-18G>A,NM_000228.2:c.1486-18G>A;ESP6500_MAF=2.6879,24.9546,10.2323;ESP6500_TAC=1330,11668;CLINVAR_AF_ESP=0.1023;CLINVAR_AF_EXAC=0.14703;CLINVAR_AF_TGP=0.2572;CLINVAR_ALLELEID=249686;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209626996C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2076350	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1710,159,0
chr1	209628174	rs2076351;255582	C	T	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.218;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.92;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.582;SOR=0.238;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076351;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|11/23|c.1149G>A|p.Pro383Pro|1293/4061|1149/3519|383/1172||,T|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|10/22|c.1149G>A|p.Pro383Pro|1539/4307|1149/3519|383/1172||,T|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|11/23|c.1149G>A|p.Pro383Pro|1267/4035|1149/3519|383/1172||,T|upstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.-4664G>A|||||4664|;p3_1000G_AA=C|||;p3_1000G_AC=578;p3_1000G_AF=0.115415;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=17031;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209801519;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=496,3894;ESP6500_AA_GTC=29,438,1728;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-10.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=30;ESP6500_EA_AC=34,8516;ESP6500_EA_GTC=0,34,4241;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:coding-synonymous,NM_001017402.1:coding-synonymous,NM_000228.2:coding-synonymous;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209628174;ESP6500_GTC=29,472,5969;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.1149G>A,NM_001017402.1:c.1149G>A,NM_000228.2:c.1149G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(P383),NM_001017402.1:p.(P383),NM_000228.2:p.(P383);ESP6500_MAF=0.3977,11.2984,4.0958;ESP6500_TAC=530,12410;CLINVAR_AF_ESP=0.0410;CLINVAR_AF_EXAC=0.05761;CLINVAR_AF_TGP=0.1154;CLINVAR_ALLELEID=249688;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209628174C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:78267;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2076351	GT:AD:DP:GQ:PL	0/1:18,21:39:99:535,0,531
chr1	209628224	rs2076352	A	G	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.87;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.426;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076352;dbSNPBuildID=96;ANN=G|upstream_gene_variant|MODIFIER|MIR4260|MIR4260|transcript|NR_036213.1|pseudogene||n.-4714T>C|||||4714|,G|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|10/22|c.1133-34T>C||||||,G|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|9/21|c.1133-34T>C||||||,G|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|10/22|c.1133-34T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=465;p3_1000G_AF=0.0928514;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=17168;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209801569;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA_AC=22,4236;ESP6500_AA_GTC=0,22,2107;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=14;ESP6500_EA_AC=156,8102;ESP6500_EA_GTC=1,154,3974;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:intron,NM_001017402.1:intron,NM_000228.2:intron;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209628224;ESP6500_GTC=1,176,6081;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.1133-34T>C,NM_001017402.1:c.1133-34T>C,NM_000228.2:c.1133-34T>C;ESP6500_MAF=1.8891,0.5167,1.4222;ESP6500_TAC=178,12338	GT:AD:DP:GQ:PL	0/1:12,11:23:99:364,0,353
chr1	209630750	rs4844863;255598	G	A	782.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4844863;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|8/22|c.823-15C>T||||||,A|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|7/21|c.823-15C>T||||||,A|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|8/22|c.823-15C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4123;p3_1000G_AF=0.823283;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=18267;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.8668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209804095;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3636,770;ESP6500_AA_AGE=310.0+/-291.3;ESP6500_AA_GTC=1504,628,71;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=41;ESP6500_EA_AC=7297,1303;ESP6500_EA_AGE=258.4+/-282.1;ESP6500_EA_GTC=3095,1107,98;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:intron,NM_001017402.1:intron,NM_000228.2:intron;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209630750;ESP6500_GTC=4599,1735,169;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.823-15C>T,NM_001017402.1:c.823-15C>T,NM_000228.2:c.823-15C>T;ESP6500_MAF=15.1512,17.4762,15.9388;ESP6500_TAC=10933,2073;CLINVAR_ALLELEID=249689;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209630750G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3585;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4844863	GT:AD:DP:GQ:PL	1/1:0,26:26:78:811,78,0
chr1	209634437	rs12410975;295136	C	T	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.427;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.544;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.97;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12410975;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|6/22|c.564+10G>A||||||,T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|5/21|c.564+10G>A||||||,T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|6/22|c.564+10G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=398;p3_1000G_AF=0.0794728;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=18442;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209807782;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=24,4382;ESP6500_AA_AGE=29.0+/-57.7;ESP6500_AA_GTC=0,24,2179;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=70;ESP6500_EA_AC=166,8434;ESP6500_EA_AGE=74.8+/-137.4;ESP6500_EA_GTC=1,164,4135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:intron,NM_001017402.1:intron,NM_000228.2:intron;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209634437;ESP6500_GTC=1,188,6314;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.564+10G>A,NM_001017402.1:c.564+10G>A,NM_000228.2:c.564+10G>A;ESP6500_MAF=1.9302,0.5447,1.4609;ESP6500_TAC=190,12816;CLINVAR_AF_ESP=0.0146;CLINVAR_AF_EXAC=0.04954;CLINVAR_AF_TGP=0.0795;CLINVAR_ALLELEID=278677;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional;CLINVAR_CLNHGVS=NC_000001.11:g.209634437C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59811;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12410975	GT:AD:DP:GQ:PL	0/1:13,18:31:99:470,0,310
chr1	209634470	rs2235542;295139	T	C	626.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.242;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=0.736;SOR=1.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2235542;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|6/23|c.541A>G|p.Asn181Asp|685/4061|541/3519|181/1172||,C|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|5/22|c.541A>G|p.Asn181Asp|931/4307|541/3519|181/1172||,C|missense_variant|MODERATE|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|6/23|c.541A>G|p.Asn181Asp|659/4035|541/3519|181/1172||;p3_1000G_AA=T|||;p3_1000G_AC=426;p3_1000G_AF=0.0850639;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=19211;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209807815;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=24,4382;ESP6500_AA_AGE=29.9+/-59.1;ESP6500_AA_GTC=0,24,2179;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=3.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=78;ESP6500_EA_AC=188,8412;ESP6500_EA_AGE=84.0+/-146.5;ESP6500_EA_GTC=1,186,4113;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001127641.1:missense,NM_001017402.1:missense,NM_000228.2:missense;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209634470;ESP6500_GS=23,23,23;ESP6500_GTC=1,210,6292;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.541A>G,NM_001017402.1:c.541A>G,NM_000228.2:c.541A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(N181D),NM_001017402.1:p.(N181D),NM_000228.2:p.(N181D);ESP6500_MAF=2.186,0.5447,1.63;ESP6500_PH=benign:0.036,benign:0.036,benign:0.036;ESP6500_TAC=212,12794;CLINVAR_AF_ESP=0.0163;CLINVAR_AF_EXAC=0.05354;CLINVAR_AF_TGP=0.0851;CLINVAR_ALLELEID=280043;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional;CLINVAR_CLNHGVS=NC_000001.11:g.209634470T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:59816|UniProtKB_(protein):Q13751#VAR_037309;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2235542	GT:AD:DP:GQ:PL	0/1:13,23:36:99:655,0,298
chr1	209638461	rs2072942	A	G	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.43;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=4.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.186;SOR=1.405;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072942;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|4/22|c.298+73T>C||||||,G|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|3/21|c.298+73T>C||||||,G|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|4/22|c.298+73T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=474;p3_1000G_AF=0.0946486;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=20386;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.0229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209811806;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,22:51:99:581,0,648
chr1	209638484	rs2076355;255593	A	T	1661.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076355;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|4/22|c.298+50T>A||||||,T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|3/21|c.298+50T>A||||||,T|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|4/22|c.298+50T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2279;p3_1000G_AF=0.455072;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=20007;p3_1000G_EAS_AF=0.7153;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209811829;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1333,3073;ESP6500_AA_AGE=436.6+/-344.7;ESP6500_AA_GTC=196,941,1066;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=40;ESP6500_EA_AC=2054,6546;ESP6500_EA_AGE=353.0+/-328.9;ESP6500_EA_GTC=240,1574,2486;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:intron,NM_001017402.1:intron,NM_000228.2:intron;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209638484;ESP6500_GTC=436,2515,3552;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.298+50T>A,NM_001017402.1:c.298+50T>A,NM_000228.2:c.298+50T>A;ESP6500_MAF=23.8837,30.2542,26.0418;ESP6500_TAC=3387,9619;CLINVAR_AF_ESP=0.2604;CLINVAR_AF_EXAC=0.33963;CLINVAR_AF_TGP=0.4551;CLINVAR_ALLELEID=249693;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209638484A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2076355	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1690,174,0
chr1	209638718	rs2076357	T	C	570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.86;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2076357;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|3/22|c.184-70A>G||||||,C|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|2/21|c.184-70A>G||||||,C|intron_variant|MODIFIER|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|3/22|c.184-70A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2899;p3_1000G_AF=0.578874;p3_1000G_AFR_AF=0.3419;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=18148;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.6849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209812063;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:599,48,0
chr1	209650009	rs2228339;255584	G	A	437.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.272;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.155;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.156;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228339;dbSNPBuildID=137;ANN=A|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_000228.2|protein_coding|3/23|c.138C>T|p.Thr46Thr|282/4061|138/3519|46/1172||,A|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001017402.1|protein_coding|2/22|c.138C>T|p.Thr46Thr|528/4307|138/3519|46/1172||,A|synonymous_variant|LOW|LAMB3|LAMB3|transcript|NM_001127641.1|protein_coding|3/23|c.138C>T|p.Thr46Thr|256/4035|138/3519|46/1172||;p3_1000G_AA=G|||;p3_1000G_AC=1492;p3_1000G_AF=0.297923;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=17612;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.2674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209823354;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1002,3404;ESP6500_AA_AGE=373.7+/-320.9;ESP6500_AA_GTC=106,790,1307;ESP6500_CDS_SIZES=NM_001127641.1:3519,NM_001017402.1:3519,NM_000228.2:3519;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=82;ESP6500_EA_AC=2150,6450;ESP6500_EA_AGE=370.0+/-335.7;ESP6500_EA_GTC=277,1596,2427;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001127641.1:coding-synonymous,NM_001017402.1:coding-synonymous,NM_000228.2:coding-synonymous;ESP6500_GL=LAMB3;ESP6500_GRCh38_POSITION=1:209650009;ESP6500_GTC=383,2386,3734;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001127641.1:c.138C>T,NM_001017402.1:c.138C>T,NM_000228.2:c.138C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001127641.1:p.(T46),NM_001017402.1:p.(T46),NM_000228.2:p.(T46);ESP6500_MAF=25.0,22.7417,24.235;ESP6500_TAC=3152,9854;CLINVAR_AF_ESP=0.2424;CLINVAR_AF_EXAC=0.27791;CLINVAR_AF_TGP=0.2979;CLINVAR_ALLELEID=249695;CLINVAR_CLNDISDB=MedGen:C0079301,Orphanet:ORPHA305|MedGen:CN169374;CLINVAR_CLNDN=Epidermolysis_bullosa,_junctional|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.209650009G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3614;CLINVAR_GENEINFO=LAMB3:3914;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2228339	GT:AD:DP:GQ:PL	0/1:15,19:34:99:466,0,453
chr1	209675657	rs3817870	T	C	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.983;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=1.78;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3817870;dbSNPBuildID=107;ANN=C|5_prime_UTR_variant|MODIFIER|G0S2|G0S2|transcript|NM_015714.3|protein_coding|2/2|c.-28T>C|||||28|,C|upstream_gene_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134511.1|pseudogene||n.-408A>G|||||408|,C|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134509.1|pseudogene|1/2|n.97-12596A>G||||||,C|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134510.1|pseudogene|1/2|n.67-12596A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3038;p3_1000G_AF=0.606629;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=16309;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.7356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209849002;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2223,2153;ESP6500_AA_GTC=591,1041,556;ESP6500_CDS_SIZES=NM_015714.3:312;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=14;ESP6500_EA_AC=6322,2246;ESP6500_EA_GTC=2377,1568,339;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015714.3:utr-5;ESP6500_GL=G0S2;ESP6500_GRCh38_POSITION=1:209675657;ESP6500_GTC=2968,2609,895;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015714.3:c.-28T>C;ESP6500_MAF=26.2138,49.2002,33.9849;ESP6500_TAC=8545,4399	GT:AD:DP:GQ:PL	0/1:14,15:29:99:403,0,336
chr1	209676054	rs3830766	AG	A	97.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.391;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-0.984;SOR=1.371;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3830766;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|G0S2|G0S2|transcript|NM_015714.3|protein_coding|2/2|c.*59delG|||||59|,A|upstream_gene_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134511.1|pseudogene||n.-806delC|||||806|,A|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134509.1|pseudogene|1/2|n.97-12994delC||||||,A|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134510.1|pseudogene|1/2|n.67-12994delC||||||;p3_1000G_AA=G|G|-|deletion;p3_1000G_AC=2994;p3_1000G_AF=0.597843;p3_1000G_AFR_AF=0.4349;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=16801;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.7346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209849399;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,4:15:99:0|1:209676054_AG_A:135,0,691
chr1	209676061	rs1473683	T	G	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.49;ReadPosRankSum=-0.548;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1473683;dbSNPBuildID=88;ANN=G|3_prime_UTR_variant|MODIFIER|G0S2|G0S2|transcript|NM_015714.3|protein_coding|2/2|c.*65T>G|||||65|,G|upstream_gene_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134511.1|pseudogene||n.-812A>C|||||812|,G|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134509.1|pseudogene|1/2|n.97-13000A>C||||||,G|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134510.1|pseudogene|1/2|n.67-13000A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4604;p3_1000G_AF=0.919329;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=16899;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.9871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209849406;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,4:16:99:0|1:209676054_AG_A:132,0,717
chr1	209706871	rs72215241;~rs72215241;375731	C	CA	1945.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.208;ClippingRankSum=0;DP=109;ExcessHet=3.0103;FS=3.683;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=-1.695;SOR=1.098;INS;HET;VARTYPE=INS;dbSNP138_ID=rs72215241;dbSNPBuildID=138;ANN=CA|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134509.1|pseudogene|1/2|n.96+17158dupT||||||,CA|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_001206741.1|protein_coding|4/6|c.331+53dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134510.1|pseudogene|1/2|n.66+35625dupT||||||,CA|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_181755.2|protein_coding|4/6|c.331+53dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_005525.3|protein_coding|3/5|c.331+53dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAA|AA|AAA|deletion;p3_1000G_AC=992;p3_1000G_AF=0.198083;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=20826;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209880216;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=INDEL;ESP6500_AA_AC=799,3467;ESP6500_AA_GTC=83,633,1417;ESP6500_CDS_SIZES=NM_181755.2:879,NM_005525.3:879,NM_001206741.1:879;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=87;ESP6500_EA_AC=1593,6661;ESP6500_EA_GTC=154,1285,2688;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181755.2:intron,NM_005525.3:intron,NM_001206741.1:intron;ESP6500_GL=HSD11B1;ESP6500_GRCh38_POSITION=1:209706871;ESP6500_GTC=237,1918,4105;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_181755.2:c.331+51_331+52insA,NM_005525.3:c.331+51_331+52insA,NM_001206741.1:c.331+51_331+52insA;ESP6500_MAF=19.2997,18.7295,19.1054;ESP6500_TAC=2392,10128;CLINVAR_ALLELEID=23950;CLINVAR_CLNDISDBINCL=MedGen:C3553382,OMIM:614662;CLINVAR_CLNDNINCL=Cortisone_reductase_deficiency_2;CLINVAR_CLNHGVS=NC_000001.11:g.209706873dupA;CLINVAR_CLNREVSTAT=no_interpretation_for_the_single_variant;CLINVAR_CLNSIGINCL=8911:Uncertain_significance;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_CLNVI=OMIM_Allelic_Variant:600713.0001;CLINVAR_GENEINFO=HSD11B1:3290|LOC101930114:101930114;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=45487298	GT:AD:DP:GQ:PL	0/1:43,66:109:99:1983,0,1204
chr1	209706914	rs12086634;375729	T	G	1936.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.4;ClippingRankSum=0;DP=120;ExcessHet=3.0103;FS=0.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=1.81;SOR=0.819;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12086634;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134509.1|pseudogene|1/2|n.96+17116A>C||||||,G|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_001206741.1|protein_coding|4/6|c.332-29T>G||||||,G|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134510.1|pseudogene|1/2|n.66+35583A>C||||||,G|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_181755.2|protein_coding|4/6|c.332-29T>G||||||,G|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_005525.3|protein_coding|3/5|c.332-29T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=987;p3_1000G_AF=0.197085;p3_1000G_AFR_AF=0.1808;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=20924;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209880259;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=818,3588;ESP6500_AA_AGE=325.6+/-299.2;ESP6500_AA_GTC=85,648,1470;ESP6500_CDS_SIZES=NM_181755.2:879,NM_005525.3:879,NM_001206741.1:879;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=119;ESP6500_EA_AC=1663,6937;ESP6500_EA_AGE=306.8+/-308.1;ESP6500_EA_GTC=164,1335,2801;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181755.2:intron,NM_005525.3:intron,NM_001206741.1:intron;ESP6500_GL=HSD11B1;ESP6500_GRCh38_POSITION=1:209706914;ESP6500_GTC=249,1983,4271;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_181755.2:c.332-29T>G,NM_005525.3:c.332-29T>G,NM_001206741.1:c.332-29T>G;ESP6500_MAF=19.3372,18.5656,19.0758;ESP6500_TAC=2481,10525;CLINVAR_AF_ESP=0.1908;CLINVAR_AF_EXAC=0.20664;CLINVAR_AF_TGP=0.1971;CLINVAR_ALLELEID=76328;CLINVAR_CLNDISDBINCL=MedGen:C3553382,OMIM:614662;CLINVAR_CLNDNINCL=Cortisone_reductase_deficiency_2;CLINVAR_CLNHGVS=NC_000001.11:g.209706914T>G;CLINVAR_CLNREVSTAT=no_interpretation_for_the_single_variant;CLINVAR_CLNSIGINCL=8911:Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:600713.0001;CLINVAR_GENEINFO=HSD11B1:3290|LOC101930114:101930114;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12086634	GT:AD:DP:GQ:PL	0/1:47,73:120:99:1965,0,1172
chr1	209707163	rs537845450;rs58182526;rs796500373	GA	G	605.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.952;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.091;SOR=1.096;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs58182526;dbSNPBuildID=134,142,146;ANN=G|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134509.1|pseudogene|1/2|n.96+16866delT||||||,G|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_001206741.1|protein_coding|5/6|c.517+46delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134510.1|pseudogene|1/2|n.66+35333delT||||||,G|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_181755.2|protein_coding|5/6|c.517+46delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_005525.3|protein_coding|4/5|c.517+46delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:21,28:49:99:643,0,443
chr1	209732389	rs932335	G	C	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.227;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=1.5;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs932335;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_001206741.1|protein_coding|5/6|c.518-47G>C||||||,C|intron_variant|MODIFIER|LOC101930114|LOC101930114|transcript|NR_134510.1|pseudogene|1/2|n.66+10108C>G||||||,C|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_181755.2|protein_coding|5/6|c.518-47G>C||||||,C|intron_variant|MODIFIER|HSD11B1|HSD11B1|transcript|NM_005525.3|protein_coding|4/5|c.518-47G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1056;p3_1000G_AF=0.210863;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=20203;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.2078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209905734;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1697;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=951,3455;ESP6500_AA_AGE=734.6+/-410.6;ESP6500_AA_GTC=117,717,1369;ESP6500_CDS_SIZES=NM_181755.2:879,NM_005525.3:879,NM_001206741.1:879;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=1720,6880;ESP6500_EA_AGE=736.3+/-407.0;ESP6500_EA_GTC=171,1378,2751;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181755.2:intron,NM_005525.3:intron,NM_001206741.1:intron;ESP6500_GL=HSD11B1;ESP6500_GRCh38_POSITION=1:209732389;ESP6500_GTC=288,2095,4120;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_181755.2:c.518-47G>C,NM_005525.3:c.518-47G>C,NM_001206741.1:c.518-47G>C;ESP6500_MAF=20.0,21.5842,20.5367;ESP6500_TAC=2671,10335	GT:AD:DP:GQ:PL	0/1:17,13:30:99:349,0,525
chr1	209759986	rs6685077	A	G	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.89;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.349;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6685077;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|3/17|c.-54A>G|||||54|,G|5_prime_UTR_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|3/17|c.-54A>G|||||54|,G|5_prime_UTR_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|3/17|c.-54A>G|||||54|,G|non_coding_transcript_exon_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|3/13|n.384A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1869;p3_1000G_AF=0.373203;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=18648;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209933331;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,15:33:99:428,0,458
chr1	209760195	rs2076150	A	G	719.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.26;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0.945;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.313;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2076150;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|3/17|c.156A>G|p.Gln52Gln|672/2347|156/1656|52/551||,G|synonymous_variant|LOW|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|3/17|c.156A>G|p.Gln52Gln|593/2208|156/1596|52/531||,G|synonymous_variant|LOW|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|3/17|c.156A>G|p.Gln52Gln|593/2268|156/1656|52/551||,G|non_coding_transcript_exon_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|3/13|n.593A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1868;p3_1000G_AF=0.373003;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=20472;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209933540;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2998,1408;ESP6500_AA_AGE=456.1+/-351.2;ESP6500_AA_GTC=1030,938,235;ESP6500_CDS_SIZES=NM_025228.2:1656;ESP6500_CG=2.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=43;ESP6500_EA_AC=1916,6684;ESP6500_EA_AGE=724.4+/-406.5;ESP6500_EA_GTC=213,1490,2597;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025228.2:coding-synonymous;ESP6500_GL=TRAF3IP3;ESP6500_GRCh38_POSITION=1:209760195;ESP6500_GTC=1243,2428,2832;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_025228.2:c.156A>G;ESP6500_HGVS_PROTEIN_VAR=NM_025228.2:p.(Q52);ESP6500_MAF=22.2791,31.9564,37.7826;ESP6500_TAC=4914,8092	GT:AD:DP:GQ:PL	0/1:44,26:70:99:748,0,1221
chr1	209760412	rs6696463	G	C	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.252;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.3;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6696463;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|3/16|c.345+28G>C||||||,C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|3/12|n.782+28G>C||||||,C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|3/16|c.285+88G>C||||||,C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|3/16|c.345+28G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1871;p3_1000G_AF=0.373602;p3_1000G_AFR_AF=0.7458;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=17400;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209933757;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,18:39:99:542,0,505
chr1	209762433	rs10489342	A	G	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.417;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10489342;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|3/16|c.346-82A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|3/12|n.783-82A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|3/16|c.286-82A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|3/16|c.346-82A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1868;p3_1000G_AF=0.373003;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=20623;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209935778;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,12:26:99:371,0,412
chr1	209763121	rs7548219	A	G	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.326;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.132;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7548219;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|6/16|c.576+29A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|6/12|n.1013+29A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|6/16|c.516+29A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|6/16|c.576+29A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1828;p3_1000G_AF=0.365016;p3_1000G_AFR_AF=0.7231;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=20224;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.2396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209936466;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2937,1467;ESP6500_AA_AGE=434.7+/-344.0;ESP6500_AA_GTC=986,965,251;ESP6500_CDS_SIZES=NM_025228.2:1656;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=1938,6662;ESP6500_EA_AGE=712.9+/-405.9;ESP6500_EA_GTC=218,1502,2580;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025228.2:intron;ESP6500_GL=TRAF3IP3;ESP6500_GRCh38_POSITION=1:209763121;ESP6500_GTC=1204,2467,2831;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_025228.2:c.576+29A>G;ESP6500_MAF=22.5349,33.3106,37.4885;ESP6500_TAC=4875,8129	GT:AD:DP:GQ:PL	0/1:12,10:22:99:241,0,299
chr1	209763226	rs6540555	A	G	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.723;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.77;ReadPosRankSum=-1.331;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6540555;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|6/16|c.576+134A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|6/12|n.1013+134A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|6/16|c.516+134A>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|6/16|c.576+134A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1834;p3_1000G_AF=0.366214;p3_1000G_AFR_AF=0.7224;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=17020;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.2416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209936571;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,10:14:99:291,0,107
chr1	209763286	rs6540556	G	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.65;ReadPosRankSum=2.28;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6540556;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|6/16|c.577-77G>A||||||,A|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|6/12|n.1014-77G>A||||||,A|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|6/16|c.517-77G>A||||||,A|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|6/16|c.577-77G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1810;p3_1000G_AF=0.361422;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=17970;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209936631;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=933,451;ESP6500_AA_GTC=299,335,58;ESP6500_CDS_SIZES=NM_025228.2:1656;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=60;ESP6500_EA_AC=706,2476;ESP6500_EA_GTC=69,568,954;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025228.2:intron;ESP6500_GL=TRAF3IP3;ESP6500_GRCh38_POSITION=1:209763286;ESP6500_GTC=368,903,1012;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025228.2:c.577-77G>A;ESP6500_MAF=22.1873,32.5867,35.8958;ESP6500_TAC=1639,2927	GT:AD:DP:GQ:PL	0/1:5,7:12:99:240,0,178
chr1	209763328	rs7536882	C	G	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=0.158;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7536882;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|6/16|c.577-35C>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|6/12|n.1014-35C>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|6/16|c.517-35C>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|6/16|c.577-35C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1821;p3_1000G_AF=0.363618;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=18192;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209936673;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2929,1477;ESP6500_AA_AGE=473.9+/-356.8;ESP6500_AA_GTC=976,977,250;ESP6500_CDS_SIZES=NM_025228.2:1656;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=100;ESP6500_EA_AC=1928,6672;ESP6500_EA_AGE=726.2+/-406.6;ESP6500_EA_GTC=214,1500,2586;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025228.2:intron;ESP6500_GL=TRAF3IP3;ESP6500_GRCh38_POSITION=1:209763328;ESP6500_GTC=1190,2477,2836;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_025228.2:c.577-35C>G;ESP6500_MAF=22.4186,33.5225,37.3443;ESP6500_TAC=4857,8149	GT:AD:DP:GQ:PL	0/1:4,9:13:94:301,0,94
chr1	209763569	rs17015169	C	T	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.67;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.439;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17015169;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|8/17|c.684C>T|p.Ala228Ala|1200/2347|684/1656|228/551||,T|synonymous_variant|LOW|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|8/17|c.624C>T|p.Ala208Ala|1061/2208|624/1596|208/531||,T|synonymous_variant|LOW|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|8/17|c.684C>T|p.Ala228Ala|1121/2268|684/1656|228/551||,T|upstream_gene_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001287754.1|protein_coding||c.-11798C>T|||||4919|,T|non_coding_transcript_exon_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|8/13|n.1121C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1906;p3_1000G_AF=0.380591;p3_1000G_AFR_AF=0.6906;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=19722;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.2306;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209936914;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2815,1591;ESP6500_AA_AGE=664.0+/-401.3;ESP6500_AA_GTC=909,997,297;ESP6500_CDS_SIZES=NM_025228.2:1656;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=84;ESP6500_EA_AC=1900,6700;ESP6500_EA_AGE=336.9+/-322.1;ESP6500_EA_GTC=213,1474,2613;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025228.2:coding-synonymous;ESP6500_GL=TRAF3IP3;ESP6500_GRCh38_POSITION=1:209763569;ESP6500_GTC=1122,2471,2910;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025228.2:c.684C>T;ESP6500_HGVS_PROTEIN_VAR=NM_025228.2:p.(A228);ESP6500_MAF=22.093,36.1099,36.2525;ESP6500_TAC=4715,8291	GT:AD:DP:GQ:PL	0/1:7,7:14:99:207,0,221
chr1	209763619	rs34406510;~rs67192274	T	TCA	199.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.534;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-0.437;SOR=2.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34406510;dbSNPBuildID=126;ANN=TCA|upstream_gene_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001287754.1|protein_coding||c.-11748_-11747insCA|||||4868|,TCA|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|8/16|c.702+32_702+33insCA||||||,TCA|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|8/12|n.1139+32_1139+33insCA||||||,TCA|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|8/16|c.642+32_642+33insCA||||||,TCA|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|8/16|c.702+32_702+33insCA||||||;p3_1000G_AC=1971;p3_1000G_AF=0.39357;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=19136;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209936964;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=INDEL;ESP6500_AA_AC=2834,1432;ESP6500_AA_GTC=948,938,247;ESP6500_CDS_SIZES=NM_025228.2:1656;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=57;ESP6500_EA_AC=1868,6384;ESP6500_EA_GTC=208,1452,2466;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025228.2:intron;ESP6500_GL=TRAF3IP3;ESP6500_GRCh38_POSITION=1:209763619;ESP6500_GTC=1156,2390,2713;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025228.2:c.702+32_702+33insCA;ESP6500_MAF=22.6369,33.5677,37.5619;ESP6500_TAC=4702,7816	GT:AD:DP:GQ:PL	0/1:5,6:11:99:237,0,199
chr1	209777336	rs649275	T	C	518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.385;SOR=1.106;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs649275;dbSNPBuildID=83;ANN=C|downstream_gene_variant|MODIFIER|C1orf74|C1orf74|transcript|NM_152485.3|protein_coding||c.*5489A>G|||||1872|,C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|11/16|c.1054-16T>C||||||,C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|11/12|n.1491-775T>C||||||,C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|11/16|c.994-16T>C||||||,C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|11/16|c.1054-16T>C||||||,C|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001287754.1|protein_coding|4/6|c.262-16T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3074;p3_1000G_AF=0.613818;p3_1000G_AFR_AF=0.5923;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=15561;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.6243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209950681;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2488,1918;ESP6500_AA_AGE=520.1+/-370.2;ESP6500_AA_GTC=707,1074,422;ESP6500_CDS_SIZES=NM_025228.2:1656;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=51;ESP6500_EA_AC=5462,3138;ESP6500_EA_AGE=452.6+/-363.0;ESP6500_EA_GTC=1772,1918,610;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025228.2:intron;ESP6500_GL=TRAF3IP3;ESP6500_GRCh38_POSITION=1:209777336;ESP6500_GTC=2479,2992,1032;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_025228.2:c.1054-16T>C;ESP6500_MAF=36.4884,43.5315,38.8744;ESP6500_TAC=7950,5056	GT:AD:DP:GQ:PL	0/1:21,20:41:99:547,0,561
chr1	209777415	rs669694	C	G	559.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-2.555;SOR=0.645;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs669694;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|12/17|c.1117C>G|p.Gln373Glu|1633/2347|1117/1656|373/551||,G|missense_variant|MODERATE|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|12/17|c.1057C>G|p.Gln353Glu|1494/2208|1057/1596|353/531||,G|missense_variant|MODERATE|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|12/17|c.1117C>G|p.Gln373Glu|1554/2268|1117/1656|373/551||,G|missense_variant|MODERATE|TRAF3IP3|TRAF3IP3|transcript|NM_001287754.1|protein_coding|5/7|c.325C>G|p.Gln109Glu|588/1066|325/549|109/182||,G|downstream_gene_variant|MODIFIER|C1orf74|C1orf74|transcript|NM_152485.3|protein_coding||c.*5410G>C|||||1793|,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|11/12|n.1491-696C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4068;p3_1000G_AF=0.8123;p3_1000G_AFR_AF=0.8828;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=15884;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.7674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209950760;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3778,628;ESP6500_AA_AGE=270.7+/-269.8;ESP6500_AA_GTC=1627,524,52;ESP6500_CDS_SIZES=NM_025228.2:1656;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=62;ESP6500_EA_AC=6870,1730;ESP6500_EA_AGE=316.6+/-312.8;ESP6500_EA_GTC=2756,1358,186;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025228.2:missense;ESP6500_GL=TRAF3IP3;ESP6500_GRCh38_POSITION=1:209777415;ESP6500_GS=29;ESP6500_GTC=4383,1882,238;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_025228.2:c.1117C>G;ESP6500_HGVS_PROTEIN_VAR=NM_025228.2:p.(Q373E);ESP6500_MAF=20.1163,14.2533,18.1301;ESP6500_PH=benign:0.0;ESP6500_TAC=10648,2358	GT:AD:DP:GQ:PL	0/1:39,25:64:99:588,0,928
chr1	209779520	rs623360	C	G	198.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.896;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs623360;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|C1orf74|C1orf74|transcript|NM_152485.3|protein_coding|2/2|c.*3305G>C|||||3305|,G|3_prime_UTR_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001287754.1|protein_coding|7/7|c.*117C>G|||||117|,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320143.1|protein_coding|14/16|c.1312+146C>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_001320144.1|protein_coding|14/16|c.1252+146C>G||||||,G|intron_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NM_025228.3|protein_coding|14/16|c.1312+146C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|TRAF3IP3|TRAF3IP3|transcript|NR_109871.1|pseudogene|13/13|n.1759C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1408;p3_1000G_AF=0.28115;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=18213;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209952865;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,8:20:99:227,0,383
chr1	209796634	rs3028134;rs71571914;rs753335157	A	AAC	306.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.958;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.2;ReadPosRankSum=1.2;SOR=2.303;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71571914;dbSNPBuildID=144,130,102;ANN=AAC|intron_variant|MODIFIER|IRF6|IRF6|transcript|NM_006147.3|protein_coding|3/8|c.175-84_175-83dupGT||||||,AAC|intron_variant|MODIFIER|IRF6|IRF6|transcript|NM_001206696.1|protein_coding|1/6|c.-111-84_-111-83dupGT||||||	GT:AD:DP:GQ:PL	0/1:1,4:5:0:152,0,0
chr1	209801183	rs772934319	C	CA	173.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.701;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.82;ReadPosRankSum=-0.171;SOR=2.147;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35878470;dbSNPBuildID=144;ANN=CA|intron_variant|MODIFIER|IRF6|IRF6|transcript|NM_006147.3|protein_coding|3/8|c.174+56dupT||||||,CA|intron_variant|MODIFIER|IRF6|IRF6|transcript|NM_001206696.1|protein_coding|1/6|c.-111-4632dupT||||||	GT:AD:DP:GQ:PL	0/1:2,5:7:53:53,0,57
chr1	209828241	rs616227	A	G	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.386;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.83;ReadPosRankSum=1.13;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs616227;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|DIEXF|DIEXF|transcript|NM_014388.6|protein_coding|1/11|c.107+71A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2337;p3_1000G_AF=0.466653;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=13124;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210001586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:91:91,0,228
chr1	209830043	rs599663	A	C	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.84;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=4.868;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=1.49;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs599663;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|DIEXF|DIEXF|transcript|NM_014388.6|protein_coding|1/11|c.108-65A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1520;p3_1000G_AF=0.303514;p3_1000G_AFR_AF=0.3033;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=17596;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210003388;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=422,962;ESP6500_AA_GTC=70,282,340;ESP6500_CDS_SIZES=NM_014388.6:2271;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=149;ESP6500_EA_AC=1296,1886;ESP6500_EA_GTC=252,792,547;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014388.6:intron;ESP6500_GL=DIEXF;ESP6500_GRCh38_POSITION=1:209830043;ESP6500_GTC=322,1074,887;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014388.6:c.108-65A>C;ESP6500_MAF=40.7291,30.4913,37.6259;ESP6500_TAC=1718,2848	GT:AD:DP:GQ:PL	0/1:7,11:18:99:329,0,156
chr1	209830057	rs599649	T	C	339.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.22;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.718;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=1.47;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs599649;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|DIEXF|DIEXF|transcript|NM_014388.6|protein_coding|1/11|c.108-51T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2957;p3_1000G_AF=0.590455;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=18101;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.7286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210003402;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2640,1766;ESP6500_AA_AGE=639.2+/-397.1;ESP6500_AA_GTC=788,1064,351;ESP6500_CDS_SIZES=NM_014388.6:2271;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=93;ESP6500_EA_AC=6550,2050;ESP6500_EA_AGE=716.1+/-406.1;ESP6500_EA_GTC=2510,1530,260;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014388.6:intron;ESP6500_GL=DIEXF;ESP6500_GRCh38_POSITION=1:209830057;ESP6500_GTC=3298,2594,611;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014388.6:c.108-51T>C;ESP6500_MAF=23.8372,40.0817,29.3403;ESP6500_TAC=9190,3816	GT:AD:DP:GQ:PL	0/1:10,14:24:99:368,0,257
chr1	209830854	rs585627	C	G	569.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.327;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.907;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs585627;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|DIEXF|DIEXF|transcript|NM_014388.6|protein_coding|3/12|c.199C>G|p.Gln67Glu|296/8486|199/2271|67/756||;p3_1000G_AA=G|||;p3_1000G_AC=2955;p3_1000G_AF=0.590056;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=20577;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.7286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210004199;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2593,1813;ESP6500_AA_AGE=530.6+/-373.0;ESP6500_AA_GTC=759,1075,369;ESP6500_CDS_SIZES=NM_014388.6:2271;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=73;ESP6500_EA_AC=6552,2048;ESP6500_EA_AGE=357.1+/-330.6;ESP6500_EA_GTC=2510,1532,258;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014388.6:missense;ESP6500_GL=DIEXF;ESP6500_GRCh38_POSITION=1:209830854;ESP6500_GS=29;ESP6500_GTC=3269,2607,627;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014388.6:c.199C>G;ESP6500_HGVS_PROTEIN_VAR=NM_014388.6:p.(Q67E);ESP6500_MAF=23.814,41.1484,29.6863;ESP6500_PH=benign:0.0;ESP6500_TAC=9145,3861	GT:AD:DP:GQ:PL	0/1:29,22:51:99:598,0,888
chr1	209833258	rs656566	C	T	524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.889;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.057;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.769;SOR=0.287;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs656566;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|DIEXF|DIEXF|transcript|NM_014388.6|protein_coding|4/12|c.462C>T|p.Pro154Pro|559/8486|462/2271|154/756||;p3_1000G_AA=C|||;p3_1000G_AC=2956;p3_1000G_AF=0.590256;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=17529;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.7286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210006603;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2636,1770;ESP6500_AA_AGE=644.2+/-398.0;ESP6500_AA_GTC=786,1064,353;ESP6500_CDS_SIZES=NM_014388.6:2271;ESP6500_CG=-11.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=90;ESP6500_EA_AC=6552,2048;ESP6500_EA_AGE=719.5+/-406.3;ESP6500_EA_GTC=2510,1532,258;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014388.6:coding-synonymous;ESP6500_GL=DIEXF;ESP6500_GRCh38_POSITION=1:209833258;ESP6500_GTC=3296,2596,611;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014388.6:c.462C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014388.6:p.(P154);ESP6500_MAF=23.814,40.1725,29.3557;ESP6500_TAC=9188,3818	GT:AD:DP:GQ:PL	0/1:16,23:39:99:553,0,405
chr1	209835022	rs685248	C	G	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.104;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.389;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs685248;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|DIEXF|DIEXF|transcript|NM_014388.6|protein_coding|4/11|c.563-53C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2956;p3_1000G_AF=0.590256;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=18457;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.7286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210008367;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=848,536;ESP6500_AA_GTC=253,342,97;ESP6500_CDS_SIZES=NM_014388.6:2271;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=132;ESP6500_EA_AC=2394,788;ESP6500_EA_GTC=902,590,99;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014388.6:intron;ESP6500_GL=DIEXF;ESP6500_GRCh38_POSITION=1:209835022;ESP6500_GTC=1155,932,196;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014388.6:c.563-53C>G;ESP6500_MAF=24.7643,38.7283,28.9969;ESP6500_TAC=3242,1324	GT:AD:DP:GQ:PL	0/1:13,12:25:99:293,0,402
chr1	209838757	rs1962735	A	G	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.47;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.399;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1962735;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|DIEXF|DIEXF|transcript|NM_014388.6|protein_coding|6/11|c.1063-152A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3629;p3_1000G_AF=0.724641;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=19720;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.7445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210012102;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,7:21:99:202,0,450
chr1	209842223	rs10570454;rs35511439	GCT	G	393.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.174;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.242;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.72;ReadPosRankSum=-0.33;SOR=1.802;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10570454,rs35511439;dbSNPBuildID=131,132;ANN=G|intron_variant|MODIFIER|DIEXF|DIEXF|transcript|NM_014388.6|protein_coding|8/11|c.1486-38_1486-37delTC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3905;p3_1000G_AF=0.779752;p3_1000G_AFR_AF=0.82;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=22451;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.7515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210015568;p3_1000G_GRCH37_REF=GCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7597;p3_1000G_VT=INDEL;ESP6500_AA_AC=3480,784;ESP6500_AA_GTC=1417,646,69;ESP6500_CDS_SIZES=NM_014388.6:2271;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=46;ESP6500_EA_AC=6460,1794;ESP6500_EA_GTC=2541,1378,208;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014388.6:intron;ESP6500_GL=DIEXF;ESP6500_GRCh38_POSITION=1:209842223;ESP6500_GTC=3958,2024,277;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014388.6:c.1486-41_1486-40del2;ESP6500_MAF=21.7349,18.3865,20.5943;ESP6500_TAC=9940,2578	GT:AD:DP:GQ:PL	0/1:8,11:19:99:431,0,298
chr1	209938388	rs12025114	G	A	583.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.34;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12025114;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_001146261.2|protein_coding|1/9|c.27+111G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_001146262.2|protein_coding|1/8|c.13+111G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_001146264.2|protein_coding|1/8|c.27+111G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_001256006.1|protein_coding|1/8|c.-307+111G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_153262.3|protein_coding|1/7|c.13+111G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NR_027459.2|pseudogene|1/8|n.104+111G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1971;p3_1000G_AF=0.39357;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=5411;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210111733;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:612,51,0
chr1	209965724	rs10779518	G	A	151.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.38;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10779518;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_001146261.2|protein_coding|2/9|c.76-169G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_001146262.2|protein_coding|2/8|c.61+12968G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_001146264.2|protein_coding|2/8|c.76-169G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_001256006.1|protein_coding|3/8|c.-54+12465G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NM_153262.3|protein_coding|2/7|c.61+12968G>A||||||,A|intron_variant|MODIFIER|SYT14|SYT14|transcript|NR_027459.2|pseudogene|3/8|n.357+12465G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3667;p3_1000G_AF=0.732228;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=17488;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.5855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210139069;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:180,15,0
chr1	210237921	rs11347154;rs397982772	GT	G	282.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=0.076;SOR=0.725;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11347154;dbSNPBuildID=137,138;ANN=G|upstream_gene_variant|MODIFIER|SERTAD4-AS1|SERTAD4-AS1|transcript|NR_024337.1|pseudogene||n.-3801delA|||||3801|,G|intron_variant|MODIFIER|SERTAD4|SERTAD4|transcript|NM_019605.3|protein_coding|1/3|c.-17-9delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:22,17:39:99:320,0,474
chr1	210241526	rs67121079;~rs67121079	G	GT	89.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.218;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=1.69;SOR=1.802;INS;HET;VARTYPE=INS;dbSNP138_ID=rs67121079;dbSNPBuildID=138;ANN=GT|intron_variant|MODIFIER|SERTAD4|SERTAD4|transcript|NM_019605.3|protein_coding|3/3|c.292-25dupT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=2623,1367;ESP6500_AA_GTC=922,779,294;ESP6500_CDS_SIZES=NM_019605.3:1071;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=24;ESP6500_EA_AC=3450,4648;ESP6500_EA_GTC=816,1818,1415;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019605.3:intron;ESP6500_GL=SERTAD4;ESP6500_GRCh38_POSITION=1:210241526;ESP6500_GTC=1738,2597,1709;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_019605.3:c.292-32_292-31insT;ESP6500_MAF=42.6031,34.2607,49.7601;ESP6500_TAC=6073,6015	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,6:18:99:0|1:210241526_G_GT:127,0,312
chr1	210404529	rs2066721	G	C	750.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2066721;dbSNPBuildID=94;ANN=C|synonymous_variant|LOW|HHAT|HHAT|transcript|NM_001170587.2|protein_coding|5/11|c.537G>C|p.Leu179Leu|642/3507|537/1485|179/494||,C|synonymous_variant|LOW|HHAT|HHAT|transcript|NM_001122834.3|protein_coding|6/12|c.534G>C|p.Leu178Leu|710/3575|534/1482|178/493||,C|synonymous_variant|LOW|HHAT|HHAT|transcript|NM_001170588.2|protein_coding|5/11|c.339G>C|p.Leu113Leu|581/3446|339/1287|113/428||,C|synonymous_variant|LOW|HHAT|HHAT|transcript|NM_018194.5|protein_coding|6/12|c.534G>C|p.Leu178Leu|776/3641|534/1482|178/493||,C|synonymous_variant|LOW|HHAT|HHAT|transcript|NM_001170580.2|protein_coding|6/12|c.534G>C|p.Leu178Leu|765/3630|534/1482|178/493||,C|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170564.2|protein_coding|4/9|c.274-13625G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3806;p3_1000G_AF=0.759984;p3_1000G_AFR_AF=0.8517;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=20352;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210577873;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7086;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3574,832;ESP6500_AA_AGE=332.0+/-302.3;ESP6500_AA_GTC=1447,680,76;ESP6500_CDS_SIZES=NM_018194.4:1482,NM_001170588.1:1287,NM_001170587.1:1485,NM_001170580.1:1482,NM_001170564.1:1071,NM_001122834.2:1482;ESP6500_CG=-0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=92;ESP6500_EA_AC=6557,2043;ESP6500_EA_AGE=357.8+/-330.9;ESP6500_EA_GTC=2507,1543,250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018194.4:coding-synonymous,NM_001170588.1:coding-synonymous,NM_001170587.1:coding-synonymous,NM_001170580.1:coding-synonymous,NM_001170564.1:intron,NM_001122834.2:coding-synonymous;ESP6500_GL=HHAT;ESP6500_GRCh38_POSITION=1:210404529;ESP6500_GTC=3954,2223,326;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018194.4:c.534G>C,NM_001170588.1:c.339G>C,NM_001170587.1:c.537G>C,NM_001170580.1:c.534G>C,NM_001170564.1:c.274-13625G>C,NM_001122834.2:c.534G>C;ESP6500_HGVS_PROTEIN_VAR=NM_018194.4:p.(L178),NM_001170588.1:p.(L113),NM_001170587.1:p.(L179),NM_001170580.1:p.(L178),.,NM_001122834.2:p.(L178);ESP6500_MAF=23.7558,18.8833,22.1052;ESP6500_TAC=10131,2875	GT:AD:DP:GQ:PL	1/1:0,25:25:75:779,75,0
chr1	210418398	rs3215542;rs397982779;rs398074604	TG	T	472.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=2.584;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3215542;dbSNPBuildID=106,138,138;ANN=T|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170587.2|protein_coding|6/10|c.859+79delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001122834.3|protein_coding|7/11|c.856+79delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170564.2|protein_coding|5/9|c.445+79delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170588.2|protein_coding|6/10|c.661+79delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_018194.5|protein_coding|7/11|c.856+79delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170580.2|protein_coding|7/11|c.856+79delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGG|GGGGGG|GGGGG|insertion;p3_1000G_AC=3064;p3_1000G_AF=0.611821;p3_1000G_AFR_AF=0.4592;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=20236;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.5984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210591742;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,16:16:48:510,48,0
chr1	210513226	rs4545340	A	G	700.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4545340;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170587.2|protein_coding|8/10|c.1046+38A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001122834.3|protein_coding|9/11|c.1043+38A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170564.2|protein_coding|7/9|c.632+38A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170588.2|protein_coding|8/10|c.848+38A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_018194.5|protein_coding|9/11|c.1043+38A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170580.2|protein_coding|9/11|c.1043+38A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3562;p3_1000G_AF=0.711262;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=16804;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.7823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210686570;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2850,1524;ESP6500_AA_AGE=451.2+/-349.6;ESP6500_AA_GTC=938,974,275;ESP6500_CDS_SIZES=NM_018194.4:1482,NM_001170588.1:1287,NM_001170587.1:1485,NM_001170580.1:1482,NM_001170564.1:1071,NM_001122834.2:1482;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=55;ESP6500_EA_AC=6600,1986;ESP6500_EA_AGE=334.7+/-321.1;ESP6500_EA_GTC=2534,1532,227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018194.4:intron,NM_001170588.1:intron,NM_001170587.1:intron,NM_001170580.1:intron,NM_001170564.1:intron,NM_001122834.2:intron;ESP6500_GL=HHAT;ESP6500_GRCh38_POSITION=1:210513226;ESP6500_GTC=3472,2506,502;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018194.4:c.1043+38A>G,NM_001170588.1:c.848+38A>G,NM_001170587.1:c.1046+38A>G,NM_001170580.1:c.1043+38A>G,NM_001170564.1:c.632+38A>G,NM_001122834.2:c.1043+38A>G;ESP6500_MAF=23.1307,34.8422,27.0833;ESP6500_TAC=9450,3510	GT:AD:DP:GQ:PL	1/1:0,23:23:69:729,69,0
chr1	210513270	rs12142231	A	G	274.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=-0.393;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12142231;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170587.2|protein_coding|8/10|c.1046+82A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001122834.3|protein_coding|9/11|c.1043+82A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170564.2|protein_coding|7/9|c.632+82A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170588.2|protein_coding|8/10|c.848+82A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_018194.5|protein_coding|9/11|c.1043+82A>G||||||,G|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170580.2|protein_coding|9/11|c.1043+82A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=522;p3_1000G_AF=0.104233;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=16712;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210686614;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=37,1347;ESP6500_AA_GTC=0,37,655;ESP6500_CDS_SIZES=NM_018194.4:1482,NM_001170588.1:1287,NM_001170587.1:1485,NM_001170580.1:1482,NM_001170564.1:1071,NM_001122834.2:1482;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=48;ESP6500_EA_AC=474,2684;ESP6500_EA_GTC=36,402,1141;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018194.4:intron,NM_001170588.1:intron,NM_001170587.1:intron,NM_001170580.1:intron,NM_001170564.1:intron,NM_001122834.2:intron;ESP6500_GL=HHAT;ESP6500_GRCh38_POSITION=1:210513270;ESP6500_GTC=36,439,1796;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018194.4:c.1043+82A>G,NM_001170588.1:c.848+82A>G,NM_001170587.1:c.1046+82A>G,NM_001170580.1:c.1043+82A>G,NM_001170564.1:c.632+82A>G,NM_001122834.2:c.1043+82A>G;ESP6500_MAF=15.0095,2.6734,11.2506;ESP6500_TAC=511,4031	GT:AD:DP:GQ:PL	0/1:5,10:15:92:303,0,92
chr1	210588118	rs4297293	G	C	1281.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.64;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4297293;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170587.2|protein_coding|9/10|c.1248+19G>C||||||,C|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001122834.3|protein_coding|10/11|c.1245+19G>C||||||,C|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170564.2|protein_coding|8/9|c.834+19G>C||||||,C|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170588.2|protein_coding|9/10|c.1050+19G>C||||||,C|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_018194.5|protein_coding|10/11|c.1245+19G>C||||||,C|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170580.2|protein_coding|10/11|c.1245+19G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4757;p3_1000G_AF=0.94988;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=16496;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210761462;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3762,640;ESP6500_AA_GTC=1607,548,46;ESP6500_CDS_SIZES=NM_018194.4:1482,NM_001170588.1:1287,NM_001170587.1:1485,NM_001170580.1:1482,NM_001170564.1:1071,NM_001122834.2:1482;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=26;ESP6500_EA_AC=8587,11;ESP6500_EA_GTC=4288,11,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018194.4:intron,NM_001170588.1:intron,NM_001170587.1:intron,NM_001170580.1:intron,NM_001170564.1:intron,NM_001122834.2:intron;ESP6500_GL=HHAT;ESP6500_GRCh38_POSITION=1:210588118;ESP6500_GTC=5895,559,46;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018194.4:c.1245+19G>C,NM_001170588.1:c.1050+19G>C,NM_001170587.1:c.1248+19G>C,NM_001170580.1:c.1245+19G>C,NM_001170564.1:c.834+19G>C,NM_001122834.2:c.1245+19G>C;ESP6500_MAF=0.1279,14.5388,5.0077;ESP6500_TAC=12349,651	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1310,111,0
chr1	210674172	rs1934615	T	A	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.855;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=-1.271;SOR=0.178;SNP;HET;VARTYPE=SNP;dbSNPBuildID=92;ANN=A|downstream_gene_variant|MODIFIER|KCNH1|KCNH1|transcript|NM_172362.2|protein_coding||c.*9109A>T|||||4143|,A|downstream_gene_variant|MODIFIER|KCNH1|KCNH1|transcript|NM_002238.3|protein_coding||c.*9109A>T|||||4143|,A|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170587.2|protein_coding|10/10|c.1394-116T>A||||||,A|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001122834.3|protein_coding|11/11|c.1391-116T>A||||||,A|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170564.2|protein_coding|9/9|c.980-116T>A||||||,A|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170588.2|protein_coding|10/10|c.1196-116T>A||||||,A|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_018194.5|protein_coding|11/11|c.1391-116T>A||||||,A|intron_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170580.2|protein_coding|11/11|c.1391-116T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.2693;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=17835;p3_1000G_EAS_AF=0.34819999999999995;p3_1000G_EUR_AF=0.40059999999999996;p3_1000G_GRCH37_POS=210847514;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,5:23:86:86,0,606
chr1	210674398	rs4366378	A	C	497.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.159;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.924;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4366378;dbSNPBuildID=111;ANN=C|3_prime_UTR_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170587.2|protein_coding|11/11|c.*19A>C|||||19|,C|3_prime_UTR_variant|MODIFIER|HHAT|HHAT|transcript|NM_001122834.3|protein_coding|12/12|c.*19A>C|||||19|,C|3_prime_UTR_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170564.2|protein_coding|10/10|c.*19A>C|||||19|,C|3_prime_UTR_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170588.2|protein_coding|11/11|c.*19A>C|||||19|,C|3_prime_UTR_variant|MODIFIER|HHAT|HHAT|transcript|NM_018194.5|protein_coding|12/12|c.*19A>C|||||19|,C|3_prime_UTR_variant|MODIFIER|HHAT|HHAT|transcript|NM_001170580.2|protein_coding|12/12|c.*19A>C|||||19|,C|downstream_gene_variant|MODIFIER|KCNH1|KCNH1|transcript|NM_172362.2|protein_coding||c.*8883T>G|||||3917|,C|downstream_gene_variant|MODIFIER|KCNH1|KCNH1|transcript|NM_002238.3|protein_coding||c.*8883T>G|||||3917|;p3_1000G_AA=A|||;p3_1000G_AC=1076;p3_1000G_AF=0.214856;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=21287;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210847740;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1736,2670;ESP6500_AA_AGE=516.2+/-369.1;ESP6500_AA_GTC=348,1040,815;ESP6500_CDS_SIZES=NM_018194.4:1482,NM_001170588.1:1287,NM_001170587.1:1485,NM_001170580.1:1482,NM_001170564.1:1071,NM_001122834.2:1482;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=54;ESP6500_EA_AC=59,8541;ESP6500_EA_AGE=35.9+/-90.5;ESP6500_EA_GTC=0,59,4241;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018194.4:utr-3,NM_001170588.1:utr-3,NM_001170587.1:utr-3,NM_001170580.1:utr-3,NM_001170564.1:utr-3,NM_001122834.2:utr-3;ESP6500_GL=HHAT;ESP6500_GRCh38_POSITION=1:210674398;ESP6500_GTC=348,1099,5056;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_018194.4:c.*19A>C,NM_001170588.1:c.*19A>C,NM_001170587.1:c.*19A>C,NM_001170580.1:c.*19A>C,NM_001170564.1:c.*19A>C,NM_001122834.2:c.*19A>C;ESP6500_MAF=0.686,39.4008,13.8013;ESP6500_TAC=1795,11211	GT:AD:DP:GQ:PL	0/1:25,22:47:99:526,0,648
chr1	210683243	rs3135473	G	T	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.636;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.918;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-1.464;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3135473;dbSNPBuildID=103;ANN=T|3_prime_UTR_variant|MODIFIER|KCNH1|KCNH1|transcript|NM_172362.2|protein_coding|11/11|c.*38C>A|||||38|,T|3_prime_UTR_variant|MODIFIER|KCNH1|KCNH1|transcript|NM_002238.3|protein_coding|11/11|c.*38C>A|||||38|;p3_1000G_AA=T|||;p3_1000G_AC=3790;p3_1000G_AF=0.756789;p3_1000G_AFR_AF=0.8744;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=16571;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.6909;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210856585;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3773,621;ESP6500_AA_GTC=1629,515,53;ESP6500_CDS_SIZES=NM_172362.2:2970,NM_002238.3:2889;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=106;ESP6500_EA_AC=6069,2517;ESP6500_EA_GTC=2144,1781,368;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172362.2:utr-3,NM_002238.3:utr-3;ESP6500_GL=KCNH1;ESP6500_GRCh38_POSITION=1:210683243;ESP6500_GTC=3773,2296,421;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_172362.2:c.*38C>A,NM_002238.3:c.*38C>A;ESP6500_MAF=29.3152,14.1329,24.1757;ESP6500_TAC=9842,3138	GT:AD:DP:GQ:PL	0/1:9,14:23:99:369,0,277
chr1	210684115	rs1135317	A	G	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.516;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=1.01;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1135317;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|KCNH1|KCNH1|transcript|NM_172362.2|protein_coding|11/11|c.2136T>C|p.Asp712Asp|2306/8106|2136/2970|712/989||,G|synonymous_variant|LOW|KCNH1|KCNH1|transcript|NM_002238.3|protein_coding|11/11|c.2055T>C|p.Asp685Asp|2225/8025|2055/2889|685/962||;p3_1000G_AA=G|||;p3_1000G_AC=3703;p3_1000G_AF=0.739417;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=20379;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.7117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210857457;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3505,901;ESP6500_AA_AGE=337.3+/-304.8;ESP6500_AA_GTC=1410,685,108;ESP6500_CDS_SIZES=NM_172362.2:2970,NM_002238.3:2889;ESP6500_CG=-5.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=60;ESP6500_EA_AC=6136,2462;ESP6500_EA_AGE=390.1+/-343.2;ESP6500_EA_GTC=2176,1784,339;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172362.2:coding-synonymous,NM_002238.3:coding-synonymous;ESP6500_GL=KCNH1;ESP6500_GRCh38_POSITION=1:210684115;ESP6500_GTC=3586,2469,447;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172362.2:c.2136T>C,NM_002238.3:c.2055T>C;ESP6500_HGVS_PROTEIN_VAR=NM_172362.2:p.(D712),NM_002238.3:p.(D685);ESP6500_MAF=28.6346,20.4494,25.8613;ESP6500_TAC=9641,3363	GT:AD:DP:GQ:PL	0/1:19,9:28:99:188,0,542
chr1	211107382	rs111658240;rs558365456;rs767287394	TA	T	96.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.744;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=0.172;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs111658240;dbSNPBuildID=137,144,142;ANN=T|splice_region_variant&intron_variant|LOW|KCNH1|KCNH1|transcript|NM_172362.2|protein_coding|1/10|c.80-6delT||||||,T|splice_region_variant&intron_variant|LOW|KCNH1|KCNH1|transcript|NM_002238.3|protein_coding|1/10|c.80-6delT||||||	GT:AD:DP:GQ:PL	0/1:9,6:15:99:134,0,342
chr1	211107395	rs56223346;rs77214996;~rs56223346	A	AC	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.157;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.691;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs56223346;dbSNPBuildID=137;ANN=AC|intron_variant|MODIFIER|KCNH1|KCNH1|transcript|NM_172362.2|protein_coding|1/10|c.80-19_80-18insG||||||,AC|intron_variant|MODIFIER|KCNH1|KCNH1|transcript|NM_002238.3|protein_coding|1/10|c.80-19_80-18insG||||||;p3_1000G_AC=477;p3_1000G_AF=0.0952476;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=18971;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.1113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211280737;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=526,90,2,42,3606;ESP6500_AA_GTC=10,6,0,1,499,4,0,0,76,0,0,2,0,41,1494;ESP6500_CDS_SIZES=NM_172362.2:2970,NM_172362.2:2970,NM_172362.2:2970,NM_172362.2:2970,NM_002238.3:2889,NM_002238.3:2889,NM_002238.3:2889,NM_002238.3:2889;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=55;ESP6500_EA_AC=106,842,12,138,7156;ESP6500_EA_GTC=1,2,0,0,102,40,9,2,749,0,0,3,0,136,3083;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172362.2:intron,NM_172362.2:intron,NM_172362.2:intron,NM_172362.2:intron,NM_002238.3:intron,NM_002238.3:intron,NM_002238.3:intron,NM_002238.3:intron;ESP6500_GL=KCNH1;ESP6500_GRCh38_POSITION=1:211107395;ESP6500_GTC=11,8,0,1,601,44,9,2,825,0,0,5,0,177,4577;ESP6500_GTS=A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR;ESP6500_HGVS_CDNA_VAR=NM_172362.2:c.80-20_80-19del2,NM_172362.2:c.80-19_80-18insCTGTT,NM_172362.2:c.80-19_80-18insCTGT,NM_172362.2:c.80-19_80-18insCTTT,NM_002238.3:c.80-20_80-19del2,NM_002238.3:c.80-19_80-18insCTGTT,NM_002238.3:c.80-19_80-18insCTGT,NM_002238.3:c.80-19_80-18insCTTT;ESP6500_MAF=13.3026,15.4712,14.0415;ESP6500_TAC=632,932,14,180,10762	GT:AD:DP:GQ:PL	0/1:9,5:14:99:189,0,359
chr1	211260078	rs9887769	T	A	73.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.967;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9887769;dbSNPBuildID=119;ANN=A|5_prime_UTR_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_018254.3|protein_coding|1/11|c.-38T>A|||||38|,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136223.1|protein_coding|1/11|c.167-30T>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136225.1|protein_coding|1/10|c.167-30T>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136224.2|protein_coding|1/10|c.167-30T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=443;p3_1000G_AF=0.0884585;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=7855;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.0457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211433420;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=92,4168;ESP6500_AA_GTC=1,90,2039;ESP6500_CDS_SIZES=NM_018254.3:1488,NM_001136225.1:1350,NM_001136224.2:1311,NM_001136223.1:1662;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=13;ESP6500_EA_AC=240,8328;ESP6500_EA_GTC=4,232,4048;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018254.3:utr-5,NM_001136225.1:intron,NM_001136224.2:intron,NM_001136223.1:intron;ESP6500_GL=RCOR3;ESP6500_GRCh38_POSITION=1:211260078;ESP6500_GTC=5,322,6087;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_018254.3:c.-38T>A,NM_001136225.1:c.167-30T>A,NM_001136224.2:c.167-30T>A,NM_001136223.1:c.167-30T>A;ESP6500_MAF=2.8011,2.1596,2.5881;ESP6500_TAC=332,12496	GT:AD:DP:GQ:PL	0/1:1,5:6:15:102,0,15
chr1	211274093	rs397982796;rs5780634	CT	C	49.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5780634;dbSNPBuildID=134,138;ANN=C|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136223.1|protein_coding|3/11|c.302-107delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136225.1|protein_coding|3/10|c.302-107delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136224.2|protein_coding|3/10|c.302-107delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_018254.3|protein_coding|2/10|c.128-107delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4723;p3_1000G_AF=0.943091;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=18494;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211447435;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:86,9,0
chr1	211274283	rs11580084	G	A	636.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.486;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.854;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11580084;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136223.1|protein_coding|4/11|c.354+21G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136225.1|protein_coding|4/10|c.354+21G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136224.2|protein_coding|4/10|c.354+21G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_018254.3|protein_coding|3/10|c.180+21G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2284;p3_1000G_AF=0.45607;p3_1000G_AFR_AF=0.1475;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=16716;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.5994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211447625;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=926,3480;ESP6500_AA_AGE=350.8+/-311.0;ESP6500_AA_GTC=89,748,1366;ESP6500_CDS_SIZES=NM_018254.3:1488,NM_001136225.1:1350,NM_001136224.2:1311,NM_001136223.1:1662;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=67;ESP6500_EA_AC=5224,3376;ESP6500_EA_AGE=632.7+/-398.6;ESP6500_EA_GTC=1585,2054,661;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018254.3:intron,NM_001136225.1:intron,NM_001136224.2:intron,NM_001136223.1:intron;ESP6500_GL=RCOR3;ESP6500_GRCh38_POSITION=1:211274283;ESP6500_GTC=1674,2802,2027;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018254.3:c.180+21G>A,NM_001136225.1:c.354+21G>A,NM_001136224.2:c.354+21G>A,NM_001136223.1:c.354+21G>A;ESP6500_MAF=39.2558,21.0168,47.2859;ESP6500_TAC=6150,6856	GT:AD:DP:GQ:PL	0/1:20,28:48:99:665,0,487
chr1	211279187	rs10708960;rs397861805;rs556823002;rs564217764	TA	T	233.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.97;SOR=1.402;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10708960;dbSNPBuildID=132,142,142,138;ANN=T|sequence_feature|MODERATE|RCOR3|RCOR3|modified-residue:phosphoserine|NM_001136223.1|protein_coding|6/11|c.642-50delA||||||,T|sequence_feature|MODERATE|RCOR3|RCOR3|modified-residue:phosphoserine|NM_001136225.1|protein_coding|6/10|c.642-50delA||||||,T|sequence_feature|MODERATE|RCOR3|RCOR3|modified-residue:phosphoserine|NM_001136224.2|protein_coding|6/10|c.642-50delA||||||,T|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136223.1|protein_coding|6/11|c.642-36delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136225.1|protein_coding|6/10|c.642-36delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136224.2|protein_coding|6/10|c.642-36delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_018254.3|protein_coding|5/10|c.468-36delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:211279187_TA_T:271,27,0
chr1	211279336	rs3767377	G	A	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.501;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.03;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767377;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136223.1|protein_coding|7/11|c.720+20G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136225.1|protein_coding|7/10|c.720+20G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136224.2|protein_coding|7/10|c.720+20G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_018254.3|protein_coding|6/10|c.546+20G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2287;p3_1000G_AF=0.456669;p3_1000G_AFR_AF=0.1475;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=19536;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.5994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211452678;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=930,3476;ESP6500_AA_AGE=354.9+/-312.8;ESP6500_AA_GTC=90,750,1363;ESP6500_CDS_SIZES=NM_018254.3:1488,NM_001136225.1:1350,NM_001136224.2:1311,NM_001136223.1:1662;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=107;ESP6500_EA_AC=5222,3378;ESP6500_EA_AGE=640.0+/-399.5;ESP6500_EA_GTC=1578,2066,656;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018254.3:intron,NM_001136225.1:intron,NM_001136224.2:intron,NM_001136223.1:intron;ESP6500_GL=RCOR3;ESP6500_GRCh38_POSITION=1:211279336;ESP6500_GTC=1668,2816,2019;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018254.3:c.546+20G>A,NM_001136225.1:c.720+20G>A,NM_001136224.2:c.720+20G>A,NM_001136223.1:c.720+20G>A;ESP6500_MAF=39.2791,21.1076,47.3012;ESP6500_TAC=6152,6854	GT:AD:DP:GQ:PL	0/1:4,7:11:99:153,0,100
chr1	211279386	rs3767378	G	A	90.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.674;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767378;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136223.1|protein_coding|7/11|c.720+70G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136225.1|protein_coding|7/10|c.720+70G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136224.2|protein_coding|7/10|c.720+70G>A||||||,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_018254.3|protein_coding|6/10|c.546+70G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2287;p3_1000G_AF=0.456669;p3_1000G_AFR_AF=0.1475;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=18854;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.5994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211452728;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,5:6:23:119,0,23
chr1	211291714	rs59941407;rs67923485	ACATAGGC	A	61.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.14;ReadPosRankSum=0.422;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs67923485,rs59941407;dbSNPBuildID=135,129;ANN=A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136223.1|protein_coding|8/11|c.939+2321_939+2327delTAGGCCA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136225.1|protein_coding|8/10|c.939+2321_939+2327delTAGGCCA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_001136224.2|protein_coding|8/10|c.939+2321_939+2327delTAGGCCA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RCOR3|RCOR3|transcript|NM_018254.3|protein_coding|7/10|c.765+2321_765+2327delTAGGCCA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=439;p3_1000G_AF=0.0876597;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=20501;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211465056;p3_1000G_GRCH37_REF=ACATAGGC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,3:12:99:99,0,821
chr1	211354267	rs7530570	C	A	342.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.16;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7530570;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001319207.1|protein_coding|2/10|c.219-143C>A||||||,A|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_004619.3|protein_coding|2/10|c.219-143C>A||||||,A|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001033910.2|protein_coding|2/10|c.219-143C>A||||||,A|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_145759.2|protein_coding|2/10|c.219-143C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19521;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211527609;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:371,33,0
chr1	211356227	rs7550702	T	C	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.591;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7550702;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001319207.1|protein_coding|3/10|c.277-140T>C||||||,C|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_004619.3|protein_coding|3/10|c.277-140T>C||||||,C|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001033910.2|protein_coding|3/10|c.277-140T>C||||||,C|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_145759.2|protein_coding|3/10|c.277-140T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2366;p3_1000G_AF=0.472444;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=23459;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211529569;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:173,0,255
chr1	211371266	rs2289758	A	G	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=0.531;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289758;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001319207.1|protein_coding|9/10|c.964-36A>G||||||,G|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_004619.3|protein_coding|9/10|c.931-36A>G||||||,G|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001033910.2|protein_coding|9/10|c.931-36A>G||||||,G|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_145759.2|protein_coding|9/10|c.931-36A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=431;p3_1000G_AF=0.0860623;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=16631;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211544608;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=235,4155;ESP6500_AA_GTC=5,225,1965;ESP6500_CDS_SIZES=NM_145759.2:1674,NM_004619.3:1674,NM_001033910.2:1674;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=153,8443;ESP6500_EA_GTC=1,151,4146;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145759.2:intron,NM_004619.3:intron,NM_001033910.2:intron;ESP6500_GL=TRAF5;ESP6500_GRCh38_POSITION=1:211371266;ESP6500_GTC=6,376,6111;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145759.2:c.931-36A>G,NM_004619.3:c.931-36A>G,NM_001033910.2:c.931-36A>G;ESP6500_MAF=1.7799,5.3531,2.9878;ESP6500_TAC=388,12598	GT:AD:DP:GQ:PL	0/1:6,3:9:99:99,0,149
chr1	211372002	rs3738199	A	G	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.674;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738199;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001319207.1|protein_coding|10/10|c.1133-126A>G||||||,G|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_004619.3|protein_coding|10/10|c.1100-126A>G||||||,G|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001033910.2|protein_coding|10/10|c.1100-126A>G||||||,G|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_145759.2|protein_coding|10/10|c.1100-126A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2282;p3_1000G_AF=0.455671;p3_1000G_AFR_AF=0.5946;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=18018;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.3777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211545344;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:61:61,0,62
chr1	211372100	rs10717294;rs397699281;rs574701888	CT	C	218.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.34;SOR=1.27;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10717294;dbSNPBuildID=137,142,138;ANN=C|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001319207.1|protein_coding|10/10|c.1133-12delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_004619.3|protein_coding|10/10|c.1100-12delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_001033910.2|protein_coding|10/10|c.1100-12delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TRAF5|TRAF5|transcript|NM_145759.2|protein_coding|10/10|c.1100-12delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,8:8:31:211,31,0
chr1	211417793	rs1707247	T	C	1230.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.69;QD=32.39;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1707247;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|LINC00467|LINC00467|transcript|NR_026761.2|pseudogene|4/5|n.469-8418T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4715;p3_1000G_AF=0.941494;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=19355;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211591135;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1259,114,0
chr1	211481102	rs112790429	C	T	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.455;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.687;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.476;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112790429;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|RD3|RD3|transcript|NM_001164688.1|protein_coding|2/2|c.296+18G>A||||||,T|intron_variant|MODIFIER|RD3|RD3|transcript|NM_183059.2|protein_coding|2/2|c.296+18G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=48;p3_1000G_AF=0.00958466;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19124;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211654444;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=114,4292;ESP6500_AA_AGE=77.3+/-115.6;ESP6500_AA_GTC=2,110,2091;ESP6500_CDS_SIZES=NM_183059.2:588,NM_001164688.1:588;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=36;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183059.2:intron,NM_001164688.1:intron;ESP6500_GL=RD3;ESP6500_GRCh38_POSITION=1:211481102;ESP6500_GTC=2,111,6390;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_183059.2:c.296+18G>A,NM_001164688.1:c.296+18G>A;ESP6500_MAF=0.0116,2.5874,0.8842;ESP6500_TAC=115,12891	GT:AD:DP:GQ:PL	0/1:15,11:26:99:285,0,383
chr1	211670267	rs2289725;403227	C	A	2105.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289725;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_002497.3|protein_coding|5/7|c.765+14G>T||||||,A|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_001204182.1|protein_coding|5/7|c.765+14G>T||||||,A|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_001204183.1|protein_coding|5/6|c.765+14G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=395;p3_1000G_AF=0.0788738;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=19817;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.0388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211843609;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=45,4361;ESP6500_AA_AGE=45.3+/-79.5;ESP6500_AA_GTC=0,45,2158;ESP6500_CDS_SIZES=NM_002497.3:1338,NM_001204183.1:1155,NM_001204182.1:1167;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=121;ESP6500_EA_AC=302,8298;ESP6500_EA_AGE=109.2+/-169.8;ESP6500_EA_GTC=6,290,4004;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002497.3:intron,NM_001204183.1:intron,NM_001204182.1:intron;ESP6500_GL=NEK2;ESP6500_GRCh38_POSITION=1:211670267;ESP6500_GTC=6,335,6162;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002497.3:c.765+14G>T,NM_001204183.1:c.765+14G>T,NM_001204182.1:c.765+14G>T;ESP6500_MAF=3.5116,1.0213,2.668;ESP6500_TAC=347,12659;CLINVAR_ALLELEID=389374;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.211670267C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEK2:4751;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2289725	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2134,210,0
chr1	211674237	rs2305015	G	T	536.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.26;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305015;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_002497.3|protein_coding|2/7|c.314+59C>A||||||,T|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_001204182.1|protein_coding|2/7|c.314+59C>A||||||,T|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_001204183.1|protein_coding|2/6|c.314+59C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=396;p3_1000G_AF=0.0790735;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=20801;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.0388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211847579;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:39:1|1:211674237_G_T:565,39,0
chr1	211674244	rs2305014	A	T	572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305014;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_002497.3|protein_coding|2/7|c.314+52T>A||||||,T|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_001204182.1|protein_coding|2/7|c.314+52T>A||||||,T|intron_variant|MODIFIER|NEK2|NEK2|transcript|NM_001204183.1|protein_coding|2/6|c.314+52T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=398;p3_1000G_AF=0.0794728;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=20556;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.0388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211847586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=28,1722;ESP6500_AA_GTC=0,28,847;ESP6500_CDS_SIZES=NM_002497.3:1338,NM_001204183.1:1155,NM_001204182.1:1167;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=130,3852;ESP6500_EA_GTC=3,124,1864;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002497.3:intron,NM_001204183.1:intron,NM_001204182.1:intron;ESP6500_GL=NEK2;ESP6500_GRCh38_POSITION=1:211674244;ESP6500_GTC=3,152,2711;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002497.3:c.314+52T>A,NM_001204183.1:c.314+52T>A,NM_001204182.1:c.314+52T>A;ESP6500_MAF=3.2647,1.6,2.7565;ESP6500_TAC=158,5574	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:211674237_G_T:601,42,0
chr1	211968712	rs751125261	G	GA	25.74	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.263;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.45;SOR=1.262;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=GA|splice_region_variant&intron_variant|LOW|INTS7|INTS7|transcript|NM_015434.3|protein_coding|13/19|c.1816-6dupT||||||,GA|splice_region_variant&intron_variant|LOW|INTS7|INTS7|transcript|NM_001199809.1|protein_coding|12/18|c.1669-6dupT||||||,GA|splice_region_variant&intron_variant|LOW|INTS7|INTS7|transcript|NM_001199811.1|protein_coding|13/19|c.1816-6dupT||||||,GA|splice_region_variant&intron_variant|LOW|INTS7|INTS7|transcript|NM_001199812.1|protein_coding|13/19|c.1816-6dupT||||||,GA|splice_region_variant&intron_variant|LOW|INTS7|INTS7|transcript|NR_037667.1|pseudogene|14/20|n.2073-6dupT||||||	GT:AD:DP:GQ:PL	0/1:16,5:21:63:63,0,318
chr1	212030889	rs2993550	C	T	2525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=0.917;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2993550;dbSNPBuildID=101;ANN=T|upstream_gene_variant|MODIFIER|DTL|DTL|transcript|NM_016448.3|protein_coding||c.-5002C>T|||||4664|,T|upstream_gene_variant|MODIFIER|DTL|DTL|transcript|NM_001286229.1|protein_coding||c.-35993C>T|||||4664|,T|upstream_gene_variant|MODIFIER|DTL|DTL|transcript|NM_001286230.1|protein_coding||c.-5002C>T|||||4664|,T|intron_variant|MODIFIER|INTS7|INTS7|transcript|NM_015434.3|protein_coding|1/19|c.94+4455G>A||||||,T|intron_variant|MODIFIER|INTS7|INTS7|transcript|NM_001199809.1|protein_coding|1/18|c.94+4455G>A||||||,T|intron_variant|MODIFIER|INTS7|INTS7|transcript|NM_001199811.1|protein_coding|1/19|c.94+4455G>A||||||,T|intron_variant|MODIFIER|INTS7|INTS7|transcript|NM_001199812.1|protein_coding|1/19|c.94+4455G>A||||||,T|intron_variant|MODIFIER|INTS7|INTS7|transcript|NR_037667.1|pseudogene|1/20|n.317+4455G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20988;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212204231;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2554,261,0
chr1	212052001	rs2993547	T	C	339.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.41;QD=33.98;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2993547;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|DTL|DTL|transcript|NM_016448.3|protein_coding|5/14|c.460+4584T>C||||||,C|intron_variant|MODIFIER|DTL|DTL|transcript|NM_001286229.1|protein_coding|4/12|c.-250+4584T>C||||||,C|intron_variant|MODIFIER|DTL|DTL|transcript|NM_001286230.1|protein_coding|4/13|c.334+4584T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|RPL21P28|RPL21P28|transcript|NR_026911.1|pseudogene|1/1|n.51A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=13922;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212225343;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:368,30,0
chr1	212062815	rs4951436	G	T	373.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.7;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4951436;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|DTL|DTL|transcript|NM_016448.3|protein_coding|5/14|c.461-69G>T||||||,T|intron_variant|MODIFIER|DTL|DTL|transcript|NM_001286229.1|protein_coding|4/12|c.-249-69G>T||||||,T|intron_variant|MODIFIER|DTL|DTL|transcript|NM_001286230.1|protein_coding|4/13|c.335-69G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4702;p3_1000G_AF=0.938898;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=17431;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212236157;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:402,42,0
chr1	212066721	rs3738449	G	A	856.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738449;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|DTL|DTL|transcript|NM_016448.3|protein_coding|7/14|c.640-91G>A||||||,A|intron_variant|MODIFIER|DTL|DTL|transcript|NM_001286229.1|protein_coding|6/12|c.-70-91G>A||||||,A|intron_variant|MODIFIER|DTL|DTL|transcript|NM_001286230.1|protein_coding|6/13|c.514-91G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2261;p3_1000G_AF=0.451478;p3_1000G_AFR_AF=0.4955;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=21185;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212240063;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:885,75,0
chr1	212068506	rs2248191	T	C	1032.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2248191;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DTL|DTL|transcript|NM_016448.3|protein_coding|9/14|c.818-93T>C||||||,C|intron_variant|MODIFIER|DTL|DTL|transcript|NM_001286229.1|protein_coding|7/12|c.5-93T>C||||||,C|intron_variant|MODIFIER|DTL|DTL|transcript|NM_001286230.1|protein_coding|8/13|c.692-93T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=802;p3_1000G_AF=0.160144;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=18113;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.0398;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212241848;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1061,84,0
chr1	212100297	rs3135474	C	T	1055.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=0.746;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3135474;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|DTL|DTL|transcript|NM_016448.3|protein_coding|14/15|c.1307C>T|p.Ala436Val|1645/4597|1307/2193|436/730||,T|missense_variant|MODERATE|DTL|DTL|transcript|NM_001286229.1|protein_coding|12/13|c.494C>T|p.Ala165Val|1415/4367|494/1380|165/459||,T|missense_variant|MODERATE|DTL|DTL|transcript|NM_001286230.1|protein_coding|13/14|c.1181C>T|p.Ala394Val|1519/4471|1181/2067|394/688||;p3_1000G_AA=T|||;p3_1000G_AC=4805;p3_1000G_AF=0.959465;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=18727;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212273639;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4050,356;ESP6500_AA_AGE=182.9+/-210.6;ESP6500_AA_GTC=1865,320,18;ESP6500_CDS_SIZES=NM_016448.2:2193;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=99;ESP6500_EA_AC=8297,303;ESP6500_EA_AGE=110.0+/-170.5;ESP6500_EA_GTC=4009,279,12;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016448.2:missense;ESP6500_GL=DTL;ESP6500_GRCh38_POSITION=1:212100297;ESP6500_GS=64;ESP6500_GTC=5874,599,30;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016448.2:c.1307C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016448.2:p.(A436V);ESP6500_MAF=3.5233,8.0799,5.0669;ESP6500_PH=benign:0.0;ESP6500_TAC=12347,659	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1084,110,0
chr1	212101071	rs6540718	A	C	558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6540718;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|DTL|DTL|transcript|NM_016448.3|protein_coding|14/15|c.2081A>C|p.Lys694Thr|2419/4597|2081/2193|694/730||,C|missense_variant|MODERATE|DTL|DTL|transcript|NM_001286229.1|protein_coding|12/13|c.1268A>C|p.Lys423Thr|2189/4367|1268/1380|423/459||,C|missense_variant|MODERATE|DTL|DTL|transcript|NM_001286230.1|protein_coding|13/14|c.1955A>C|p.Lys652Thr|2293/4471|1955/2067|652/688||;p3_1000G_AA=C|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17820;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212274413;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4396,10;ESP6500_AA_AGE=15.5+/-35.6;ESP6500_AA_GTC=2193,10,0;ESP6500_CDS_SIZES=NM_016448.2:2193;ESP6500_CG=2.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=32;ESP6500_EA_AC=8488,112;ESP6500_EA_AGE=58.7+/-120.3;ESP6500_EA_GTC=4188,112,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016448.2:missense;ESP6500_GL=DTL;ESP6500_GRCh38_POSITION=1:212101071;ESP6500_GS=78;ESP6500_GTC=6381,122,0;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_016448.2:c.2081A>C;ESP6500_HGVS_PROTEIN_VAR=NM_016448.2:p.(K694T);ESP6500_MAF=1.3023,0.227,0.938;ESP6500_PH=benign:0.0;ESP6500_TAC=12884,122	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:212101068_A_G:587,51,0
chr1	212302231	rs2298114	T	C	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0.728;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298114;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PPP2R5A|PPP2R5A|transcript|NM_006243.3|protein_coding|1/12|c.181+15940T>C||||||,C|intron_variant|MODIFIER|PPP2R5A|PPP2R5A|transcript|NM_001199756.1|protein_coding|1/12|c.10+139T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=634;p3_1000G_AF=0.126597;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=15938;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.0557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212475573;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:98:98,0,246
chr1	212342271	rs1774249	C	T	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.183;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.675;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.424;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1774249;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|PPP2R5A|PPP2R5A|transcript|NM_006243.3|protein_coding|4/13|c.564C>T|p.Phe188Phe|1138/3128|564/1461|188/486||,T|synonymous_variant|LOW|PPP2R5A|PPP2R5A|transcript|NM_001199756.1|protein_coding|4/13|c.393C>T|p.Phe131Phe|670/2660|393/1290|131/429||;p3_1000G_AA=C|||;p3_1000G_AC=1410;p3_1000G_AF=0.28155;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=15520;p3_1000G_EAS_AF=0.2837;p3_1000G_EUR_AF=0.34;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212515613;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=936,3470;ESP6500_AA_AGE=354.1+/-312.5;ESP6500_AA_GTC=99,738,1366;ESP6500_CDS_SIZES=NM_006243.3:1461,NM_001199756.1:1290;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=105;ESP6500_EA_AC=3045,5555;ESP6500_EA_AGE=468.4+/-367.3;ESP6500_EA_GTC=542,1961,1797;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006243.3:coding-synonymous,NM_001199756.1:coding-synonymous;ESP6500_GL=PPP2R5A;ESP6500_GRCh38_POSITION=1:212342271;ESP6500_GTC=641,2699,3163;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006243.3:c.564C>T,NM_001199756.1:c.393C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006243.3:p.(F188),NM_001199756.1:p.(F131);ESP6500_MAF=35.407,21.2438,30.6089;ESP6500_TAC=3981,9025	GT:AD:DP:GQ:PL	0/1:10,14:24:99:363,0,269
chr1	212348297	rs701908	T	G	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-1.202;SOR=0.922;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs701908;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|SNORA16B|SNORA16B|transcript|NR_004389.1|pseudogene||n.-4521T>G|||||4521|,G|intron_variant|MODIFIER|PPP2R5A|PPP2R5A|transcript|NM_006243.3|protein_coding|6/12|c.765-92T>G||||||,G|intron_variant|MODIFIER|PPP2R5A|PPP2R5A|transcript|NM_001199756.1|protein_coding|6/12|c.594-92T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4069;p3_1000G_AF=0.8125;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=18605;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.7873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212521639;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,9:26:99:233,0,457
chr1	212444518	rs775582565	CGTGTGT	C	383.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=1.802;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|NENF|NENF|transcript|NM_013349.4|protein_coding|3/3|c.342+121_342+126delGTGTGT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NENF|NENF|transcript|NR_026598.1|pseudogene|2/2|n.338+121_338+126delGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,11:11:34:421,34,0
chr1	212626528	rs3122713	A	G	1903.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3122713;dbSNPBuildID=103;ANN=G|missense_variant|MODERATE|FAM71A|FAM71A|transcript|NM_153606.3|protein_coding|1/1|c.1651A>G|p.Asn551Asp|2082/2332|1651/1785|551/594||;p3_1000G_AA=G|||;p3_1000G_AC=3927;p3_1000G_AF=0.784145;p3_1000G_AFR_AF=0.7731;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=19201;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212799870;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3483,923;ESP6500_AA_AGE=353.8+/-312.3;ESP6500_AA_GTC=1379,725,99;ESP6500_CDS_SIZES=NM_153606.3:1785;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=76;ESP6500_EA_AC=7452,1148;ESP6500_EA_AGE=235.7+/-268.2;ESP6500_EA_GTC=3229,994,77;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153606.3:missense;ESP6500_GL=FAM71A;ESP6500_GRCh38_POSITION=1:212626528;ESP6500_GS=23;ESP6500_GTC=4608,1719,176;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153606.3:c.1651A>G;ESP6500_HGVS_PROTEIN_VAR=NM_153606.3:p.(N551D);ESP6500_MAF=13.3488,20.9487,15.9234;ESP6500_PH=benign:0.0;ESP6500_TAC=10935,2071	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1932,165,0
chr1	212626607	rs3795842	C	T	1457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=0.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795842;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|FAM71A|FAM71A|transcript|NM_153606.3|protein_coding|1/1|c.1730C>T|p.Thr577Met|2161/2332|1730/1785|577/594||;p3_1000G_AA=T|||;p3_1000G_AC=2429;p3_1000G_AF=0.485024;p3_1000G_AFR_AF=0.3359;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=18743;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.6451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212799949;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1719,2687;ESP6500_AA_AGE=647.8+/-398.6;ESP6500_AA_GTC=324,1071,808;ESP6500_CDS_SIZES=NM_153606.3:1785;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=95;ESP6500_EA_AC=5453,3147;ESP6500_EA_AGE=476.2+/-369.3;ESP6500_EA_GTC=1746,1961,593;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153606.3:missense;ESP6500_GL=FAM71A;ESP6500_GRCh38_POSITION=1:212626607;ESP6500_GS=81;ESP6500_GTC=2070,3032,1401;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153606.3:c.1730C>T;ESP6500_HGVS_PROTEIN_VAR=NM_153606.3:p.(T577M);ESP6500_MAF=36.593,39.015,44.8562;ESP6500_PH=benign:0.0;ESP6500_TAC=7172,5834	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1486,159,0
chr1	212697068	rs2233924	G	A	778.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.661;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=4.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=-0.571;SOR=1.536;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2233924;dbSNPBuildID=98;ANN=A|splice_region_variant&intron_variant|LOW|BATF3|BATF3|transcript|NM_018664.2|protein_coding|1/2|c.91-3C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=492;p3_1000G_AF=0.0982428;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=20617;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212870410;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=595,3811;ESP6500_AA_AGE=258.9+/-262.7;ESP6500_AA_GTC=32,531,1640;ESP6500_CDS_SIZES=NM_018664.2:384;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=85;ESP6500_EA_AC=611,7989;ESP6500_EA_AGE=159.1+/-212.4;ESP6500_EA_GTC=28,555,3717;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018664.2:intron;ESP6500_GL=BATF3;ESP6500_GRCh38_POSITION=1:212697068;ESP6500_GTC=60,1086,5357;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018664.2:c.91-3C>T;ESP6500_MAF=7.1047,13.5043,9.2726;ESP6500_TAC=1206,11800	GT:AD:DP:GQ:PL	0/1:16,30:46:99:807,0,501
chr1	212727091	.	G	GT	151.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.238;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.381;SOR=0.693;INS;HET;VARTYPE=INS;ANN=GT|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|6/6|c.*11316_*11317insA|||||11316|,GT|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|7/7|c.*11605_*11606insA|||||12452|,GT|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|4/4|c.*11316_*11317insA|||||11316|,GT|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|5/5|c.*11575_*11576insA|||||11575|,GT|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|5/5|c.*50_*51insA|||||50|	GT:AD:DP:GQ:PL	0/1:3,8:11:59:189,0,59
chr1	212727092	rs367736229	C	G	419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.83;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs367736229;dbSNPBuildID=138;ANN=G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|6/6|c.*11316G>C|||||11316|,G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|7/7|c.*11605G>C|||||12452|,G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|4/4|c.*11316G>C|||||11316|,G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|5/5|c.*11575G>C|||||11575|,G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|5/5|c.*50G>C|||||50|	GT:AD:DP:GQ:PL	1/1:0,8:8:29:389,29,0
chr1	212727145	rs2244935	A	G	643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2244935;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|5/5|c.534T>C|p.Val178Val|568/1560|534/537|178/178||,G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|6/6|c.*11263T>C|||||11263|,G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|7/7|c.*11552T>C|||||12399|,G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|4/4|c.*11263T>C|||||11263|,G|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|5/5|c.*11522T>C|||||11522|;p3_1000G_AA=G|||;p3_1000G_AC=4557;p3_1000G_AF=0.909944;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=19106;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.9155;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212900487;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1606,146;ESP6500_AA_GTC=735,136,5;ESP6500_CDS_SIZES=NM_015471.3:846,NM_001042549.1:642;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=3635,345;ESP6500_EA_GTC=1658,319,13;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015471.3:utr-3,NM_001042549.1:utr-3;ESP6500_GL=NSL1;ESP6500_GRCh38_POSITION=1:212727145;ESP6500_GTC=2393,455,18;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015471.3:c.*11263T>C,NM_001042549.1:c.*12399T>C;ESP6500_MAF=8.6683,8.3333,8.5659;ESP6500_TAC=5241,491	GT:AD:DP:GQ:PL	1/1:0,20:20:60:672,60,0
chr1	212738494	rs15702	T	C	1226.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=1.209;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs15702;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|NSL1|NSL1|transcript|NM_015471.3|protein_coding|6/6|c.760A>G|p.Met254Val|794/13135|760/846|254/281||,C|missense_variant|MODERATE|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|4/4|c.637A>G|p.Met213Val|671/13012|637/723|213/240||,C|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|7/7|c.*203A>G|||||1050|,C|3_prime_UTR_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|5/5|c.*173A>G|||||173|,C|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.500-11315A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3042;p3_1000G_AF=0.607428;p3_1000G_AFR_AF=0.6513;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=17247;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.6859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212911836;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6626;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3007,1399;ESP6500_AA_AGE=460.2+/-352.5;ESP6500_AA_GTC=1020,967,216;ESP6500_CDS_SIZES=NM_015471.3:846,NM_001042549.1:642;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=169;ESP6500_EA_AC=5818,2782;ESP6500_EA_AGE=442.7+/-360.2;ESP6500_EA_GTC=1980,1858,462;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015471.3:missense,NM_001042549.1:utr-3;ESP6500_GL=NSL1;ESP6500_GRCh38_POSITION=1:212738494;ESP6500_GS=21,.;ESP6500_GTC=3000,2825,678;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015471.3:c.760A>G,NM_001042549.1:c.*1050A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015471.3:p.(M254V),.;ESP6500_MAF=32.3488,31.7522,32.1467;ESP6500_PH=benign:0.0,.;ESP6500_TAC=8825,4181	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1255,108,0
chr1	212738766	rs76008099;rs574702230	ATT	A	434.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.44;SOR=2.147;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs76008099,rs67229635;dbSNPBuildID=135;ANN=A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|5/5|c.568-82_568-81delAA||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|6/6|c.*11-82_*11-81delAA||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.445-82_445-81delAA||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.500-82_500-81delAA||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.500-11589_500-11588delAA||||||;p3_1000G_AC=1307;p3_1000G_AF=0.260982;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=22926;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212912108;p3_1000G_GRCH37_REF=ATT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,13:13:39:472,39,0
chr1	212778544	rs895253390	G	A	18.59	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=150;ANN=A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3828C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3828C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5819C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3828C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3828C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,1:1:3:1|1:212778544_G_A:45,3,0
chr1	212778545	rs1324525259	C	T	18.59	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3827G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3827G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5818G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3827G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3827G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,1:1:3:1|1:212778544_G_A:45,3,0
chr1	212778547	rs989867296	C	T	18.59	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3825G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3825G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5816G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3825G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3825G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,1:1:3:1|1:212778544_G_A:45,3,0
chr1	212778551	rs1045294034	G	A	18.59	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=150;ANN=A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3821C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3821C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5812C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3821C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3821C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,1:1:3:1|1:212778544_G_A:45,3,0
chr1	212778555	rs1010977493	C	T	18.59	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3817G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3817G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5808G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3817G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3817G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,1:1:3:1|1:212778544_G_A:45,3,0
chr1	212778565	rs1490068787	G	A	18.59	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3807C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3807C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5798C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3807C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3807C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,1:1:3:1|1:212778544_G_A:45,3,0
chr1	212778590	rs1056468263	G	A	62.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=150;ANN=A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3782C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3782C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5773C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3782C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3782C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:212778544_G_A:90,6,0
chr1	212778609	rs1300241256	C	T	62.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3763G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3763G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5754G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3763G>A||||||,T|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3763G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:212778544_G_A:90,6,0
chr1	212778633	rs1291808124	G	A	18.59	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3739C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3739C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5730C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3739C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3739C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,1:1:3:1|1:212778544_G_A:45,3,0
chr1	212778653	rs1425432632	G	A	18.59	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding|4/5|c.499+3719C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding|4/6|c.499+3719C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding|3/3|c.444+5710C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding|4/4|c.499+3719C>T||||||,A|intron_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding|4/4|c.499+3719C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,1:1:3:1|1:212778544_G_A:45,3,0
chr1	212796500	rs11421046;rs397785164;rs533729772;rs763898688	C	CT	107.5	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.489;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11421046;dbSNPBuildID=144,137,142,138;ANN=CT|splice_region_variant&intron_variant|LOW|TATDN3|TATDN3|transcript|NM_001146171.1|protein_coding|2/9|c.100-4dupT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|TATDN3|TATDN3|transcript|NM_001042552.2|protein_coding|2/9|c.100-4dupT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|TATDN3|TATDN3|transcript|NM_001042553.2|protein_coding|2/9|c.100-4dupT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|TATDN3|TATDN3|transcript|NM_001146169.1|protein_coding|2/9|c.100-4dupT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|TATDN3|TATDN3|transcript|NM_001146170.1|protein_coding|2/8|c.100-4dupT||||||INFO_REALIGN_3_PRIME,CT|upstream_gene_variant|MODIFIER|NSL1|NSL1|transcript|NM_015471.3|protein_coding||c.-4738dupA|||||4704|,CT|upstream_gene_variant|MODIFIER|NSL1|NSL1|transcript|NM_001042549.1|protein_coding||c.-4738dupA|||||4704|,CT|upstream_gene_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297736.1|protein_coding||c.-4738dupA|||||4704|,CT|upstream_gene_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297737.1|protein_coding||c.-4738dupA|||||4704|,CT|upstream_gene_variant|MODIFIER|NSL1|NSL1|transcript|NM_001297739.1|protein_coding||c.-4738dupA|||||4704|;p3_1000G_AC=1808;p3_1000G_AF=0.3615996337188879;p3_1000G_AFR_AF=0.3095285857572718;p3_1000G_AMR_AF=0.3208304081837328;p3_1000G_AN=5000;p3_1000G_DEPRECATED_RSID=rs565871052;p3_1000G_DP=15464;p3_1000G_EAS_AF=0.35390781563126256;p3_1000G_EUR_AF=0.4284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212969842;p3_1000G_GRCH37_REF=CTT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_RSID_REMOVED=rs11421046;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,7:8:3:143,0,3
chr1	212797033	rs1284800	A	G	636.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1284800;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001146171.1|protein_coding|3/9|c.174-79A>G||||||,G|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001042552.2|protein_coding|3/9|c.174-79A>G||||||,G|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001042553.2|protein_coding|3/9|c.174-79A>G||||||,G|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001146169.1|protein_coding|3/9|c.174-79A>G||||||,G|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001146170.1|protein_coding|3/8|c.174-79A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4898;p3_1000G_AF=0.978035;p3_1000G_AFR_AF=0.9183;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18262;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212970375;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:665,63,0
chr1	212812124	rs12130945	C	T	224.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12130945;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001146171.1|protein_coding|8/9|c.601-103C>T||||||,T|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001042552.2|protein_coding|8/9|c.601-124C>T||||||,T|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001042553.2|protein_coding|8/9|c.601-127C>T||||||,T|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001146169.1|protein_coding|8/9|c.601-103C>T||||||,T|intron_variant|MODIFIER|TATDN3|TATDN3|transcript|NM_001146170.1|protein_coding|7/8|c.538-124C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1730;p3_1000G_AF=0.345447;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=18350;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212985466;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:253,21,0
chr1	212835836	rs369495200	CA	C	36.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.59;ReadPosRankSum=0.405;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369495200;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|SPATA45|SPATA45|transcript|NM_001024601.2|protein_coding|2/2|c.277+36delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2324;p3_1000G_AF=0.464058;p3_1000G_AFR_AF=0.4856;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=20449;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.4543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213009178;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,4:8:56:74,0,56
chr1	212836041	rs80161538	G	A	917.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.067;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.671;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=0.902;SOR=0.921;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80161538;dbSNPBuildID=132;ANN=A|stop_gained|HIGH|SPATA45|SPATA45|transcript|NM_001024601.2|protein_coding|2/3|c.109C>T|p.Arg37*|217/504|109/297|37/98||;LOF=(SPATA45|SPATA45|1|1.00);NMD=(SPATA45|SPATA45|1|1.00);p3_1000G_AA=G|||;p3_1000G_AC=129;p3_1000G_AF=0.0257588;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17926;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213009383;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_001024601.2:297;ESP6500_CG=-0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=186;ESP6500_EA_AC=1,8593;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4296;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001024601.2:stop-gained;ESP6500_GL=C1orf227;ESP6500_GRCh38_POSITION=1:212836041;ESP6500_GTC=0,1,6499;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001024601.2:c.109C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001024601.2:p.(R37*);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_TAC=1,12999	GT:AD:DP:GQ:PL	0/1:24,33:57:99:946,0,621
chr1	212836127	rs10864004	A	G	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.385;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864004;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|SPATA45|SPATA45|transcript|NM_001024601.2|protein_coding|2/3|c.23T>C|p.Ile8Thr|131/504|23/297|8/98||;p3_1000G_AA=G|||;p3_1000G_AC=3308;p3_1000G_AF=0.660543;p3_1000G_AFR_AF=0.7943;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=19824;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.7366;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213009469;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3511,895;ESP6500_AA_GTC=1408,695,100;ESP6500_CDS_SIZES=NM_001024601.2:297;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=141;ESP6500_EA_AC=6078,2516;ESP6500_EA_GTC=2217,1644,436;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001024601.2:missense;ESP6500_GL=C1orf227;ESP6500_GRCh38_POSITION=1:212836127;ESP6500_GS=89;ESP6500_GTC=3625,2339,536;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001024601.2:c.23T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001024601.2:p.(I8T);ESP6500_MAF=29.2762,20.3132,26.2385;ESP6500_PH=benign:0.0;ESP6500_TAC=9589,3411	GT:AD:DP:GQ:PL	0/1:24,14:38:99:400,0,686
chr1	212858367	rs2201603;295309	C	T	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.126;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371498591,rs2201603;dbSNPBuildID=96;ANN=T|5_prime_UTR_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|1/10|c.-86C>T|||||86|,T|upstream_gene_variant|MODIFIER|FLVCR1-AS1|FLVCR1-AS1|transcript|NR_027285.1|pseudogene||n.-229G>A|||||229|,T|upstream_gene_variant|MODIFIER|FLVCR1-AS1|FLVCR1-AS1|transcript|NR_027286.1|pseudogene||n.-229G>A|||||229|;p3_1000G_AA=T|||;p3_1000G_AC=2224;p3_1000G_AF=0.444089;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=10355;p3_1000G_EAS_AF=0.5456;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213031709;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.4441;CLINVAR_ALLELEID=278979;CLINVAR_CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628;CLINVAR_CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa;CLINVAR_CLNHGVS=NC_000001.11:g.212858367C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3660;CLINVAR_GENEINFO=FLVCR1:28982;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2201603	GT:AD:DP:GQ:PL	0/1:2,3:5:52:82,0,52
chr1	212858606	rs11120047;129102	G	C	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.183;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.348;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.89;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11120047;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|1/10|c.154G>C|p.Ala52Pro|352/5939|154/1668|52/555||,C|upstream_gene_variant|MODIFIER|FLVCR1-AS1|FLVCR1-AS1|transcript|NR_027285.1|pseudogene||n.-468C>G|||||468|,C|upstream_gene_variant|MODIFIER|FLVCR1-AS1|FLVCR1-AS1|transcript|NR_027286.1|pseudogene||n.-468C>G|||||468|;p3_1000G_AA=G|||;p3_1000G_AC=2226;p3_1000G_AF=0.444489;p3_1000G_AFR_AF=0.2269;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=12077;p3_1000G_EAS_AF=0.5476;p3_1000G_EUR_AF=0.5646;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213031948;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=992,2868;ESP6500_AA_GTC=199,594,1137;ESP6500_CDS_SIZES=NM_014053.3:1668;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=5;ESP6500_EA_AC=3551,4103;ESP6500_EA_GTC=951,1649,1227;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014053.3:missense;ESP6500_GL=FLVCR1;ESP6500_GRCh38_POSITION=1:212858606;ESP6500_GS=27;ESP6500_GTC=1150,2243,2364;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014053.3:c.154G>C;ESP6500_HGVS_PROTEIN_VAR=NM_014053.3:p.(A52P);ESP6500_MAF=46.394,25.6995,39.4563;ESP6500_PH=benign:0.072;ESP6500_TAC=4543,6971;CLINVAR_AF_ESP=0.3946;CLINVAR_AF_TGP=0.4445;CLINVAR_ALLELEID=134548;CLINVAR_CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628|MedGen:CN169374;CLINVAR_CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.212858606G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:250215|UniProtKB_(protein):Q9Y5Y0#VAR_050297;CLINVAR_GENEINFO=FLVCR1:28982;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11120047	GT:AD:DP:GQ:PL	0/1:18,17:35:99:403,0,541
chr1	212859226	rs12023052	T	A	311.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.661;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.302;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12023052;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|FLVCR1-AS1|FLVCR1-AS1|transcript|NR_027285.1|pseudogene||n.-1088A>T|||||1088|,A|upstream_gene_variant|MODIFIER|FLVCR1-AS1|FLVCR1-AS1|transcript|NR_027286.1|pseudogene||n.-1088A>T|||||1088|,A|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|1/9|c.738+36T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2109;p3_1000G_AF=0.421126;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=19373;p3_1000G_EAS_AF=0.5327;p3_1000G_EUR_AF=0.5268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213032568;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1205,3201;ESP6500_AA_GTC=171,863,1169;ESP6500_CDS_SIZES=NM_014053.3:1668;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=47;ESP6500_EA_AC=4305,4295;ESP6500_EA_GTC=1096,2113,1091;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014053.3:intron;ESP6500_GL=FLVCR1;ESP6500_GRCh38_POSITION=1:212859226;ESP6500_GTC=1267,2976,2260;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_014053.3:c.738+36T>A;ESP6500_MAF=49.9419,27.3491,42.3651;ESP6500_TAC=5510,7496	GT:AD:DP:GQ:PL	0/1:15,12:27:99:340,0,373
chr1	212863968	rs3768548	T	C	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.71;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.741;SOR=2.517;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768548;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|2/9|c.883+99T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1437;p3_1000G_AF=0.286941;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=21701;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213037310;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:243,0,225
chr1	212872894	rs1890932	G	A	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1890932;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|3/9|c.1024+76G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1431;p3_1000G_AF=0.285743;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=15346;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213046236;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:92:92,0,146
chr1	212883477	rs2644547	A	G	1853.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=1.692;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2644547;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|4/9|c.1092+39A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18046;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213056819;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4350,54;ESP6500_AA_GTC=2148,54,0;ESP6500_CDS_SIZES=NM_014053.3:1668;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=8587,1;ESP6500_EA_GTC=4293,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014053.3:intron;ESP6500_GL=FLVCR1;ESP6500_GRCh38_POSITION=1:212883477;ESP6500_GTC=6441,55,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014053.3:c.1092+39A>G;ESP6500_MAF=0.0116,1.2262,0.4233;ESP6500_TAC=12937,55	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1882,171,0
chr1	212883550	rs12125982	A	G	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=1.34;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12125982;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|4/9|c.1092+112A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2129;p3_1000G_AF=0.42512;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=18687;p3_1000G_EAS_AF=0.5397;p3_1000G_EUR_AF=0.5268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213056892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:287,0,324
chr1	212885510	rs7536716	T	A	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.524;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7536716;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|5/9|c.1196+114T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2233;p3_1000G_AF=0.445887;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=16068;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213058852;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:212885510_T_A:75,0,188
chr1	212885529	rs7522693	C	G	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.524;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7522693;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|5/9|c.1196+133C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2232;p3_1000G_AF=0.445687;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=14693;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213058871;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:212885510_T_A:75,0,183
chr1	212888020	rs2291772;518312	T	A	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.199;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.767;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291772;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|6/9|c.1307+19T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1426;p3_1000G_AF=0.284744;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=16095;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213061362;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=769,3635;ESP6500_AA_AGE=309.1+/-290.9;ESP6500_AA_GTC=77,615,1510;ESP6500_CDS_SIZES=NM_014053.3:1668;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=136;ESP6500_EA_AC=1803,6797;ESP6500_EA_AGE=319.2+/-314.1;ESP6500_EA_GTC=194,1415,2691;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014053.3:intron;ESP6500_GL=FLVCR1;ESP6500_GRCh38_POSITION=1:212888020;ESP6500_GTC=271,2030,4201;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_014053.3:c.1307+19T>A;ESP6500_MAF=20.9651,17.4614,19.7785;ESP6500_TAC=2572,10432;CLINVAR_ALLELEID=508766;CLINVAR_CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628;CLINVAR_CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa;CLINVAR_CLNHGVS=NC_000001.11:g.212888020T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=FLVCR1:28982;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2291772	GT:AD:DP:GQ:PL	0/1:17,11:28:99:252,0,462
chr1	212888675	rs112024320	T	TTTG	500.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs112024320;dbSNPBuildID=132;ANN=TTTG|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|7/9|c.1413+96_1413+98dupGTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,12:12:36:538,36,0
chr1	212894891	rs12408694	C	T	227.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12408694;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|8/9|c.1526-95C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3323;p3_1000G_AF=0.663538;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=17850;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.6879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213068233;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:256,21,0
chr1	212895062	rs17019870;295325	T	C	477.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.184;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.093;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.62;SOR=0.819;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17019870;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|9/9|c.1593+9T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1424;p3_1000G_AF=0.284345;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=19245;p3_1000G_EAS_AF=0.4454;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213068404;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=764,3642;ESP6500_AA_AGE=296.1+/-284.1;ESP6500_AA_GTC=78,608,1517;ESP6500_CDS_SIZES=NM_014053.3:1668;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=61;ESP6500_EA_AC=1799,6787;ESP6500_EA_AGE=319.5+/-314.2;ESP6500_EA_GTC=191,1417,2685;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014053.3:intron;ESP6500_GL=FLVCR1;ESP6500_GRCh38_POSITION=1:212895062;ESP6500_GTC=269,2025,4202;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014053.3:c.1593+9T>C;ESP6500_MAF=20.9527,17.34,19.7275;ESP6500_TAC=2563,10429;CLINVAR_AF_ESP=0.1973;CLINVAR_AF_EXAC=0.25971;CLINVAR_AF_TGP=0.2844;CLINVAR_ALLELEID=279015;CLINVAR_CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628;CLINVAR_CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa;CLINVAR_CLNHGVS=NC_000001.11:g.212895062T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3755;CLINVAR_GENEINFO=FLVCR1:28982;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17019870	GT:AD:DP:GQ:PL	0/1:15,19:34:99:506,0,378
chr1	212895094	rs17019873	A	G	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.365;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.607;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17019873;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|9/9|c.1593+41A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1424;p3_1000G_AF=0.284345;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=19435;p3_1000G_EAS_AF=0.4454;p3_1000G_EUR_AF=0.1879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213068436;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=761,3637;ESP6500_AA_GTC=78,605,1516;ESP6500_CDS_SIZES=NM_014053.3:1668;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=47;ESP6500_EA_AC=1795,6793;ESP6500_EA_GTC=193,1409,2692;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014053.3:intron;ESP6500_GL=FLVCR1;ESP6500_GRCh38_POSITION=1:212895094;ESP6500_GTC=271,2014,4208;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014053.3:c.1593+41A>G;ESP6500_MAF=20.9013,17.3033,19.6827;ESP6500_TAC=2556,10430	GT:AD:DP:GQ:PL	0/1:12,19:31:99:571,0,301
chr1	212895200	rs146462077;522301	C	CTGAT	759.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.169;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.166;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.02;ReadPosRankSum=-0.602;SOR=0.451;INS;HET;VARTYPE=INS;dbSNP138_ID=rs146462077;dbSNPBuildID=134;ANN=CTGAT|intron_variant|MODIFIER|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|9/9|c.1594-13_1594-10dupATTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1427;p3_1000G_AF=0.284944;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=19531;p3_1000G_EAS_AF=0.4454;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213068542;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=INDEL;ESP6500_AA_AC=3,738,3525;ESP6500_AA_GTC=0,1,2,72,593,1465;ESP6500_CDS_SIZES=NM_014053.3:1668,NM_014053.3:1668;ESP6500_CG=4.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=77;ESP6500_EA_AC=0,1729,6525;ESP6500_EA_GTC=0,0,0,183,1363,2581;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014053.3:intron,NM_014053.3:intron;ESP6500_GL=FLVCR1;ESP6500_GRCh38_POSITION=1:212895200;ESP6500_GTC=0,1,2,255,1956,4046;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_014053.3:c.1594-16_1594-15insTGAT,NM_014053.3:c.1594-16_1594-15insCGAT;ESP6500_MAF=20.9474,17.3699,19.7284;ESP6500_TAC=3,2467,10050;CLINVAR_ALLELEID=512887;CLINVAR_CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628;CLINVAR_CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa;CLINVAR_CLNHGVS=NC_000001.11:g.212895200_212895201insTGAT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_GENEINFO=FLVCR1:28982;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=146462077	GT:AD:DP:GQ:PL	0/1:14,19:33:99:797,0,528
chr1	212895253	rs3207090;129103	C	T	439.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.819;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=4.506;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.353;SOR=0.954;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3207090;dbSNPBuildID=105;ANN=T|missense_variant|MODERATE|FLVCR1|FLVCR1|transcript|NM_014053.3|protein_coding|10/10|c.1631C>T|p.Thr544Met|1829/5939|1631/1668|544/555||;p3_1000G_AA=C|||;p3_1000G_AC=1900;p3_1000G_AF=0.379393;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=18284;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213068595;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=920,3486;ESP6500_AA_AGE=351.6+/-311.3;ESP6500_AA_GTC=102,716,1385;ESP6500_CDS_SIZES=NM_014053.3:1668;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=111;ESP6500_EA_AC=4086,4514;ESP6500_EA_AGE=560.3+/-387.6;ESP6500_EA_GTC=986,2114,1200;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014053.3:missense;ESP6500_GL=FLVCR1;ESP6500_GRCh38_POSITION=1:212895253;ESP6500_GS=81;ESP6500_GTC=1088,2830,2585;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014053.3:c.1631C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014053.3:p.(T544M);ESP6500_MAF=47.5116,20.8806,38.4899;ESP6500_PH=possibly-damaging:0.863;ESP6500_TAC=5006,8000;CLINVAR_AF_ESP=0.3849;CLINVAR_AF_EXAC=0.44923;CLINVAR_AF_TGP=0.3794;CLINVAR_ALLELEID=134549;CLINVAR_CLNDISDB=MedGen:C1836916,OMIM:609033,Orphanet:ORPHA88628|MedGen:CN169374;CLINVAR_CLNDN=Posterior_column_ataxia_with_retinitis_pigmentosa|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.212895253C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3669|UniProtKB_(protein):Q9Y5Y0#VAR_050298;CLINVAR_GENEINFO=FLVCR1:28982;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3207090	GT:AD:DP:GQ:PL	0/1:22,20:42:99:468,0,579
chr1	212965643	rs1191314860	CA	C	238.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.153;SOR=2.093;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|VASH2|VASH2|transcript|NM_001301056.1|protein_coding|3/7|c.366-78delA||||||,C|intron_variant|MODIFIER|VASH2|VASH2|transcript|NM_001136474.2|protein_coding|4/8|c.171-78delA||||||,C|intron_variant|MODIFIER|VASH2|VASH2|transcript|NM_001136475.2|protein_coding|2/6|c.54-78delA||||||,C|intron_variant|MODIFIER|VASH2|VASH2|transcript|NM_024749.4|protein_coding|3/5|c.365+4390delA||||||	GT:AD:DP:GQ:PL	0/1:8,8:16:99:276,0,275
chr1	213007099	rs202124670;rs71147054	GA	G	420.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.054;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.528;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-1.187;SOR=0.877;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs202124670;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|ANGEL2|ANGEL2|transcript|NM_144567.4|protein_coding|4/8|c.712+29delT||||||,G|intron_variant|MODIFIER|ANGEL2|ANGEL2|transcript|NM_001300755.1|protein_coding|4/8|c.334+29delT||||||,G|intron_variant|MODIFIER|ANGEL2|ANGEL2|transcript|NM_001300753.1|protein_coding|4/8|c.334+29delT||||||,G|intron_variant|MODIFIER|ANGEL2|ANGEL2|transcript|NM_001300757.1|protein_coding|3/7|c.205+29delT||||||,G|intron_variant|MODIFIER|ANGEL2|ANGEL2|transcript|NM_001300758.1|protein_coding|3/7|c.205+29delT||||||,G|intron_variant|MODIFIER|ANGEL2|ANGEL2|transcript|NR_125333.1|pseudogene|3/6|n.590+29delT||||||;p3_1000G_AC=1671;p3_1000G_AF=0.333666;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=15388;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.2614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213180441;p3_1000G_GRCH37_REF=GA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,21:30:89:458,0,89
chr1	214305116	rs6540819	G	A	793.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.617;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.097;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.077;SOR=1.109;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6540819;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SMYD2|SMYD2|transcript|NM_020197.2|protein_coding|1/11|c.174-71G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2885;p3_1000G_AF=0.576078;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=24632;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.4692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214478459;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,33:66:99:822,0,902
chr1	214318748	rs370961529	GT	G	135.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.05;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=0.564;SOR=2.517;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs370961529;dbSNPBuildID=138;ANN=G|sequence_feature|LOW|SMYD2|SMYD2|binding-site:S-adenosyl-L-methionine|NM_020197.2|protein_coding|4/11|c.410-110delT||||||,G|intron_variant|MODIFIER|SMYD2|SMYD2|transcript|NM_020197.2|protein_coding|4/11|c.410-99delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,8:17:99:0|1:214318748_GT_G:173,0,327
chr1	214318766	rs141303606	G	A	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.008;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=6.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=1.47;SOR=0.082;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141303606;dbSNPBuildID=134;ANN=A|sequence_feature|LOW|SMYD2|SMYD2|binding-site:S-adenosyl-L-methionine|NM_020197.2|protein_coding|4/11|c.410-93G>A||||||,A|intron_variant|MODIFIER|SMYD2|SMYD2|transcript|NM_020197.2|protein_coding|4/11|c.410-93G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19037;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214492109;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,8:24:99:1|0:214318748_GT_G:177,0,558
chr1	214318943	rs1134647	G	A	961.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.455;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-1.968;SOR=0.651;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1134647;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|SMYD2|SMYD2|transcript|NM_020197.2|protein_coding|5/12|c.494G>A|p.Gly165Glu|527/1685|494/1302|165/433||;p3_1000G_AA=A|||;p3_1000G_AC=4160;p3_1000G_AF=0.830671;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=20618;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.9076;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214492286;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4314,92;ESP6500_AA_AGE=76.2+/-114.5;ESP6500_AA_GTC=2112,90,1;ESP6500_CDS_SIZES=NM_020197.2:1302;ESP6500_CG=5.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=137;ESP6500_EA_AC=7890,710;ESP6500_EA_AGE=174.0+/-224.4;ESP6500_EA_GTC=3624,642,34;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020197.2:missense;ESP6500_GL=SMYD2;ESP6500_GRCh38_POSITION=1:214318943;ESP6500_GS=98;ESP6500_GTC=5736,732,35;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020197.2:c.494G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020197.2:p.(G165E);ESP6500_MAF=8.2558,2.0881,6.1664;ESP6500_PH=benign:0.001;ESP6500_TAC=12204,802	GT:AD:DP:GQ:PL	0/1:23,37:60:99:990,0,586
chr1	214327509	rs115367134	A	T	150.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.76;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.82;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115367134;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|SMYD2|SMYD2|transcript|NM_020197.2|protein_coding|6/11|c.603-113A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=360;p3_1000G_AF=0.071885;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=20045;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214500852;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:179,0,205
chr1	214330146	rs2291830	T	G	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.991;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.054;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.49;SOR=0.498;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291830;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SMYD2|SMYD2|transcript|NM_020197.2|protein_coding|7/11|c.706-22T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2814;p3_1000G_AF=0.561901;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=21568;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214503489;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2372,2034;ESP6500_AA_AGE=603.5+/-390.1;ESP6500_AA_GTC=640,1092,471;ESP6500_CDS_SIZES=NM_020197.2:1302;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=4862,3738;ESP6500_EA_AGE=608.6+/-395.4;ESP6500_EA_GTC=1376,2110,814;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020197.2:intron;ESP6500_GL=SMYD2;ESP6500_GRCh38_POSITION=1:214330146;ESP6500_GTC=2016,3202,1285;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_020197.2:c.706-22T>G;ESP6500_MAF=43.4651,46.1643,44.3795;ESP6500_TAC=7234,5772	GT:AD:DP:GQ:PL	0/1:26,27:53:99:670,0,697
chr1	214336772	rs11120301	T	G	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.002;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.319;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.02;SOR=1.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11120301;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|SMYD2|SMYD2|transcript|NM_020197.2|protein_coding|12/12|c.1290T>G|p.Ile430Met|1323/1685|1290/1302|430/433||;p3_1000G_AA=T|||;p3_1000G_AC=390;p3_1000G_AF=0.0778754;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=17190;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214510115;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=13,4393;ESP6500_AA_AGE=20.2+/-43.8;ESP6500_AA_GTC=0,13,2190;ESP6500_CDS_SIZES=NM_020197.2:1302;ESP6500_CG=-7.7;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=94;ESP6500_EA_AC=19,8581;ESP6500_EA_AGE=14.0+/-48.4;ESP6500_EA_GTC=0,19,4281;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020197.2:missense;ESP6500_GL=SMYD2;ESP6500_GRCh38_POSITION=1:214336772;ESP6500_GS=10;ESP6500_GTC=0,32,6471;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_020197.2:c.1290T>G;ESP6500_HGVS_PROTEIN_VAR=NM_020197.2:p.(I430M);ESP6500_MAF=0.2209,0.2951,0.246;ESP6500_PH=benign:0.004;ESP6500_TAC=32,12974	GT:AD:DP:GQ:PL	0/1:11,18:29:99:422,0,292
chr1	214357735	rs3830398;rs397840516	GA	G	141.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.578;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.693;SOR=0.892;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3830398;dbSNPBuildID=137,138;ANN=G|3_prime_UTR_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|19/19|c.*186delT|||||186|	GT:AD:DP:GQ:PL	0/1:6,7:13:99:179,0,168
chr1	214364766	rs777034530	AGTGT	A	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.842;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71732304;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|17/18|c.3272-95_3272-92delACAC||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:75:86,0,75
chr1	214369476	rs1135352	T	C	901.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.763;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.63;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=0.288;SOR=0.338;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1135352;dbSNPBuildID=102;ANN=C|synonymous_variant|LOW|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|17/19|c.3252A>G|p.Glu1084Glu|3905/13443|3252/3564|1084/1187||;p3_1000G_AA=C|||;p3_1000G_AC=3926;p3_1000G_AF=0.783946;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=19506;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.7763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214542819;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4081,325;ESP6500_AA_AGE=173.7+/-203.5;ESP6500_AA_GTC=1890,301,12;ESP6500_CDS_SIZES=NM_005401.4:3564;ESP6500_CG=-0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=134;ESP6500_EA_AC=6671,1929;ESP6500_EA_AGE=340.8+/-323.8;ESP6500_EA_GTC=2589,1493,218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005401.4:coding-synonymous;ESP6500_GL=PTPN14;ESP6500_GRCh38_POSITION=1:214369476;ESP6500_GTC=4479,1794,230;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005401.4:c.3252A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005401.4:p.(E1084);ESP6500_MAF=22.4302,7.3763,17.3305;ESP6500_TAC=10752,2254	GT:AD:DP:GQ:PL	0/1:20,33:53:99:930,0,526
chr1	214377933	rs3013451	G	A	410.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.618;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.519;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3013451;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|14/18|c.2688+26C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3939;p3_1000G_AF=0.786542;p3_1000G_AFR_AF=0.9607;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=15451;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.7863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214551276;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4120,286;ESP6500_AA_AGE=159.2+/-191.8;ESP6500_AA_GTC=1928,264,11;ESP6500_CDS_SIZES=NM_005401.4:3564;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=92;ESP6500_EA_AC=6698,1902;ESP6500_EA_AGE=337.7+/-322.4;ESP6500_EA_GTC=2607,1484,209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005401.4:intron;ESP6500_GL=PTPN14;ESP6500_GRCh38_POSITION=1:214377933;ESP6500_GTC=4535,1748,220;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005401.4:c.2688+26C>T;ESP6500_MAF=22.1163,6.4911,16.823;ESP6500_TAC=10818,2188	GT:AD:DP:GQ:PL	0/1:18,16:34:99:439,0,590
chr1	214384652	rs528354799	T	C	1283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.41;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=5.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.35;SOR=1.211;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|synonymous_variant|LOW|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|13/19|c.1203A>G|p.Gln401Gln|1856/13443|1203/3564|401/1187||	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1312,0,1452
chr1	214384885	rs3013446	A	G	518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.101;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3013446;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|12/18|c.1067-97T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4003;p3_1000G_AF=0.799321;p3_1000G_AFR_AF=0.9909;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=20992;p3_1000G_EAS_AF=0.6389;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214558228;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,18:37:99:547,0,555
chr1	214386950	rs2270703	G	T	653.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.051;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.589;SOR=0.558;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270703;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|11/18|c.988-28C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=425;p3_1000G_AF=0.0848642;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=16471;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214560293;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=212,4194;ESP6500_AA_AGE=120.0+/-157.7;ESP6500_AA_GTC=3,206,1994;ESP6500_CDS_SIZES=NM_005401.4:3564;ESP6500_CG=4.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=53;ESP6500_EA_AC=397,8203;ESP6500_EA_AGE=115.9+/-175.7;ESP6500_EA_GTC=5,387,3908;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005401.4:intron;ESP6500_GL=PTPN14;ESP6500_GRCh38_POSITION=1:214386950;ESP6500_GTC=8,593,5902;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005401.4:c.988-28C>A;ESP6500_MAF=4.6163,4.8116,4.6825;ESP6500_TAC=609,12397	GT:AD:DP:GQ:PL	0/1:23,27:50:99:682,0,625
chr1	214390997	rs7550799	T	C	387.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.333;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-1.574;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7550799;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|11/19|c.978A>G|p.Arg326Arg|1631/13443|978/3564|326/1187||;p3_1000G_AA=C|||;p3_1000G_AC=3938;p3_1000G_AF=0.786342;p3_1000G_AFR_AF=0.9909;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=18207;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.7704;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214564340;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7597;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4200,206;ESP6500_AA_AGE=128.6+/-165.4;ESP6500_AA_GTC=2003,194,6;ESP6500_CDS_SIZES=NM_005401.4:3564;ESP6500_CG=-3.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=53;ESP6500_EA_AC=6715,1885;ESP6500_EA_AGE=335.6+/-321.5;ESP6500_EA_GTC=2625,1465,210;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005401.4:coding-synonymous;ESP6500_GL=PTPN14;ESP6500_GRCh38_POSITION=1:214390997;ESP6500_GTC=4628,1659,216;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005401.4:c.978A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005401.4:p.(R326);ESP6500_MAF=21.9186,4.6754,16.0772;ESP6500_TAC=10915,2091	GT:AD:DP:GQ:PL	0/1:7,16:23:99:416,0,146
chr1	214391099	rs11120307	C	G	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.765;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.08;ReadPosRankSum=0.311;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11120307;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|10/18|c.930-54G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2335;p3_1000G_AF=0.466254;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=16659;p3_1000G_EAS_AF=0.4663;p3_1000G_EUR_AF=0.3797;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214564442;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=737,647;ESP6500_AA_GTC=194,349,149;ESP6500_CDS_SIZES=NM_005401.4:3564;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=1175,2007;ESP6500_EA_GTC=213,749,629;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005401.4:intron;ESP6500_GL=PTPN14;ESP6500_GRCh38_POSITION=1:214391099;ESP6500_GTC=407,1098,778;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005401.4:c.930-54G>C;ESP6500_MAF=36.9265,46.7486,41.8747;ESP6500_TAC=1912,2654	GT:AD:DP:GQ:PL	0/1:2,8:10:54:239,0,54
chr1	214393609	rs4655342	A	G	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=1.29;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4655342;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|10/18|c.929+86T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3936;p3_1000G_AF=0.785942;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=17893;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.7753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214566952;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:106,0,163
chr1	214393670	rs11322819;rs796202184	CG	C	95.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.121;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=0.38;SOR=0.619;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11322819;dbSNPBuildID=130,146;ANN=C|intron_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|10/18|c.929+24delC||||||;ESP6500_AA_AC=4064,202;ESP6500_AA_GTC=1938,188,7;ESP6500_CDS_SIZES=NM_005401.4:3564;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=47;ESP6500_EA_AC=6428,1826;ESP6500_EA_GTC=2502,1424,201;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005401.4:intron;ESP6500_GL=PTPN14;ESP6500_GRCh38_POSITION=1:214393670;ESP6500_GTC=4440,1612,208;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005401.4:c.929+24del1;ESP6500_MAF=22.1226,4.7351,16.1981;ESP6500_TAC=10492,2028	GT:AD:DP:GQ:PL	0/1:12,6:18:99:133,0,318
chr1	214395128	rs11120308	C	A	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.801;SOR=0.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11120308;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|8/18|c.759-142G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3953;p3_1000G_AF=0.789337;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=20483;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.7704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214568471;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7536;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:225,0,321
chr1	214464829	rs10864100	C	T	1005.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.421;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0.977;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.256;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864100;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|PTPN14|PTPN14|transcript|NM_005401.4|protein_coding|2/19|c.-26G>A|||||26|;p3_1000G_AA=C|||;p3_1000G_AC=4137;p3_1000G_AF=0.826078;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=18539;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214638172;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3926,478;ESP6500_AA_AGE=748.2+/-411.9;ESP6500_AA_GTC=1761,404,37;ESP6500_CDS_SIZES=NM_005401.4:3564;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=6923,1675;ESP6500_EA_AGE=709.0+/-405.7;ESP6500_EA_GTC=2808,1307,184;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005401.4:utr-5;ESP6500_GL=PTPN14;ESP6500_GRCh38_POSITION=1:214464829;ESP6500_GTC=4569,1711,221;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005401.4:c.-26G>A;ESP6500_MAF=19.4813,10.8538,16.559;ESP6500_TAC=10849,2153	GT:AD:DP:GQ:PL	0/1:35,36:71:99:1034,0,892
chr1	214652853	rs335524	G	A	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs335524;dbSNPBuildID=79;ANN=A|missense_variant|MODERATE|CENPF|CENPF|transcript|NM_016343.3|protein_coding|16/20|c.8186G>A|p.Arg2729Gln|8360/10296|8186/9345|2729/3114||;p3_1000G_AA=G|||;p3_1000G_AC=2810;p3_1000G_AF=0.561102;p3_1000G_AFR_AF=0.2874;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=18335;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.4443;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214826196;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1400,3006;ESP6500_AA_AGE=453.2+/-350.3;ESP6500_AA_GTC=212,976,1015;ESP6500_CDS_SIZES=NM_016343.3:9345;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=71;ESP6500_EA_AC=3691,4909;ESP6500_EA_AGE=526.1+/-380.9;ESP6500_EA_GTC=762,2167,1371;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016343.3:missense;ESP6500_GL=CENPF;ESP6500_GRCh38_POSITION=1:214652853;ESP6500_GS=43;ESP6500_GTC=974,3143,2386;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016343.3:c.8186G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016343.3:p.(R2729Q);ESP6500_MAF=42.9186,31.7749,39.1435;ESP6500_PH=benign:0.003;ESP6500_TAC=5091,7915	GT:AD:DP:GQ:PL	1/1:0,15:15:45:463,45,0
chr1	214653021	rs335523	G	A	718.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs335523;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|CENPF|CENPF|transcript|NM_016343.3|protein_coding|16/19|c.8322+32G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2696;p3_1000G_AF=0.538339;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=18514;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.4503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214826364;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1398,3006;ESP6500_AA_AGE=437.6+/-345.0;ESP6500_AA_GTC=220,958,1024;ESP6500_CDS_SIZES=NM_016343.3:9345;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=56;ESP6500_EA_AC=3855,4743;ESP6500_EA_AGE=537.6+/-383.2;ESP6500_EA_GTC=845,2165,1289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016343.3:intron;ESP6500_GL=CENPF;ESP6500_GRCh38_POSITION=1:214653021;ESP6500_GTC=1065,3123,2313;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016343.3:c.8322+32G>A;ESP6500_MAF=44.836,31.7439,40.4015;ESP6500_TAC=5253,7749	GT:AD:DP:GQ:PL	1/1:0,24:24:72:747,72,0
chr1	214653467	rs11303309;rs1314980570;rs5780800	CT	C	901.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.362;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.342;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=21.99;ReadPosRankSum=0.233;SOR=0.713;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11303309,rs5780800;dbSNPBuildID=134,151,126;ANN=C|intron_variant|MODIFIER|CENPF|CENPF|transcript|NM_016343.3|protein_coding|16/19|c.8322+493delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2570;p3_1000G_AF=0.513179;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=15924;p3_1000G_EAS_AF=0.5744;p3_1000G_EUR_AF=0.5944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214826810;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:3,38:41:57:939,57,0
chr1	214653645	rs335522	A	C	535.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.18;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs335522;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|CENPF|CENPF|transcript|NM_016343.3|protein_coding|16/19|c.8322+656A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4240;p3_1000G_AF=0.846645;p3_1000G_AFR_AF=0.4365;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=15259;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214826988;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:564,42,0
chr1	214655469	rs435043	A	G	313.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs435043;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|CENPF|CENPF|transcript|NM_016343.3|protein_coding|17/19|c.8485+66A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3688;p3_1000G_AF=0.736422;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=17538;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.5616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214828812;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:342,27,0
chr1	214657274	rs438034	A	G	1071.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs438034;dbSNPBuildID=80;ANN=G|missense_variant|MODERATE|CENPF|CENPF|transcript|NM_016343.3|protein_coding|18/20|c.8827A>G|p.Arg2943Gly|9001/10296|8827/9345|2943/3114||;p3_1000G_AA=A|||;p3_1000G_AC=3097;p3_1000G_AF=0.618411;p3_1000G_AFR_AF=0.354;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=18995;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.5606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214830617;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1750,2656;ESP6500_AA_AGE=521.2+/-370.5;ESP6500_AA_GTC=351,1048,804;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21659360;ESP6500_CDS_SIZES=NM_016343.3:9345;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=66;ESP6500_EA_AC=4649,3951;ESP6500_EA_AGE=602.8+/-394.6;ESP6500_EA_GTC=1236,2177,887;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016343.3:missense;ESP6500_GL=CENPF;ESP6500_GRCh38_POSITION=1:214657274;ESP6500_GS=125;ESP6500_GTC=1587,3225,1691;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21659360;ESP6500_HGVS_CDNA_VAR=NM_016343.3:c.8827A>G;ESP6500_HGVS_PROTEIN_VAR=NM_016343.3:p.(R2943G);ESP6500_MAF=45.9419,39.7186,49.2004;ESP6500_PH=benign:0.0;ESP6500_TAC=6399,6607	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1100,99,0
chr1	214663767	rs7289	C	G	929.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.94;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7289;dbSNPBuildID=52;ANN=G|missense_variant|MODERATE|CENPF|CENPF|transcript|NM_016343.3|protein_coding|20/20|c.9318C>G|p.Asn3106Lys|9492/10296|9318/9345|3106/3114||;p3_1000G_AA=G|||;p3_1000G_AC=3160;p3_1000G_AF=0.63099;p3_1000G_AFR_AF=0.3775;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=17041;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.5606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214837110;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7474;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1845,2561;ESP6500_AA_AGE=632.2+/-395.8;ESP6500_AA_GTC=384,1077,742;ESP6500_CDS_SIZES=NM_016343.3:9345;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=39;ESP6500_EA_AC=4709,3891;ESP6500_EA_AGE=540.5+/-383.8;ESP6500_EA_GTC=1276,2157,867;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016343.3:missense;ESP6500_GL=CENPF;ESP6500_GRCh38_POSITION=1:214663767;ESP6500_GS=94;ESP6500_GTC=1660,3234,1609;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_016343.3:c.9318C>G;ESP6500_HGVS_PROTEIN_VAR=NM_016343.3:p.(N3106K);ESP6500_MAF=45.2442,41.8747,49.6079;ESP6500_PH=benign:0.0;ESP6500_TAC=6554,6452	GT:AD:DP:GQ:PL	1/1:0,26:26:78:958,78,0
chr1	215171920	rs3834061;rs71167811;rs763911617	GTCTCTC	G	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3834061,rs71868745,rs71167811;dbSNPBuildID=107,144,130;ANN=G|intron_variant|MODIFIER|KCNK2|KCNK2|transcript|NM_001017425.2|protein_coding|4/6|c.637-60_637-55delTCTCTC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|KCNK2|KCNK2|transcript|NM_001017424.2|protein_coding|4/6|c.625-60_625-55delTCTCTC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|KCNK2|KCNK2|transcript|NM_014217.3|protein_coding|4/6|c.592-60_592-55delTCTCTC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr1	215620492	rs14137	G	A	430.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.77;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs14137;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|KCTD3|KCTD3|transcript|NM_016121.4|protein_coding|18/18|c.2322G>A|p.Ala774Ala|2629/3958|2322/2448|774/815||,A|synonymous_variant|LOW|KCTD3|KCTD3|transcript|NM_001319294.1|protein_coding|18/18|c.2316G>A|p.Ala772Ala|2623/3952|2316/2442|772/813||,A|synonymous_variant|LOW|KCTD3|KCTD3|transcript|NM_001319295.1|protein_coding|18/18|c.2010G>A|p.Ala670Ala|2695/4024|2010/2136|670/711||,A|downstream_gene_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding||c.*5289C>T|||||2402|;p3_1000G_AA=G|||;p3_1000G_AC=2075;p3_1000G_AF=0.414337;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=16915;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.6372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215793834;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1399,3007;ESP6500_AA_AGE=452.0+/-349.9;ESP6500_AA_GTC=252,895,1056;ESP6500_CDS_SIZES=NM_016121.3:2448;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=114;ESP6500_EA_AC=5634,2966;ESP6500_EA_AGE=663.1+/-402.0;ESP6500_EA_GTC=1858,1918,524;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016121.3:coding-synonymous;ESP6500_GL=KCTD3;ESP6500_GRCh38_POSITION=1:215620492;ESP6500_GTC=2110,2813,1580;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016121.3:c.2322G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016121.3:p.(A774);ESP6500_MAF=34.4884,31.7522,45.925;ESP6500_TAC=7033,5973	GT:AD:DP:GQ:PL	1/1:0,14:14:42:459,42,0
chr1	215640800	rs371387260	TA	T	100.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.511;SOR=1.085;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs371387260;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|67/71|c.14792-67delT||||||	GT:AD:DP:GQ:PL	0/1:4,6:10:78:138,0,78
chr1	215674720	rs2009923;48413	C	T	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.804;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-1.114;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2009923;dbSNPBuildID=92;ANN=T|synonymous_variant|LOW|USH2A|USH2A|transcript|NM_206933.2|protein_coding|63/72|c.13191G>A|p.Glu4397Glu|13578/18883|13191/15609|4397/5202||;p3_1000G_AA=C|||;p3_1000G_AC=1019;p3_1000G_AF=0.203474;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=18977;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.1859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215848062;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=274,4132;ESP6500_AA_AGE=153.7+/-187.2;ESP6500_AA_GTC=7,260,1936;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...7399&amp%3Brs...2009923;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=2.9;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=63;ESP6500_EA_AC=1605,6995;ESP6500_EA_AGE=298.9+/-304.1;ESP6500_EA_GTC=152,1301,2847;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:coding-synonymous;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:215674720;ESP6500_GTC=159,1561,4783;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.13191G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(E4397);ESP6500_MAF=18.6628,6.2188,14.4472;ESP6500_TAC=1879,11127;CLINVAR_AF_ESP=0.1445;CLINVAR_AF_EXAC=0.19933;CLINVAR_AF_TGP=0.2035;CLINVAR_ALLELEID=57575;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.215674720C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2009923	GT:AD:DP:GQ:PL	0/1:16,10:26:99:291,0,524
chr1	215675245	rs2797234;48403	T	C	1357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=3.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.055;SOR=0.857;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2797234;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|USH2A|USH2A|transcript|NM_206933.2|protein_coding|63/72|c.12666A>G|p.Thr4222Thr|13053/18883|12666/15609|4222/5202||;p3_1000G_AA=T|||;p3_1000G_AC=1518;p3_1000G_AF=0.303115;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=20174;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.3738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215848587;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=983,3423;ESP6500_AA_AGE=369.8+/-319.3;ESP6500_AA_GTC=127,729,1347;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...7399&amp%3Brs...2797234;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=113;ESP6500_EA_AC=3357,5243;ESP6500_EA_AGE=498.4+/-374.7;ESP6500_EA_GTC=670,2017,1613;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:coding-synonymous;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:215675245;ESP6500_GTC=797,2746,2960;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.12666A>G;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(T4222);ESP6500_MAF=39.0349,22.3105,33.3692;ESP6500_TAC=4340,8666;CLINVAR_AF_ESP=0.3337;CLINVAR_AF_EXAC=0.36509;CLINVAR_AF_TGP=0.3031;CLINVAR_ALLELEID=57565;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.215675245T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2797234	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1386,0,1036
chr1	215675299	rs2797235;177993	T	C	1367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=3.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.27;SOR=1.108;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2797235;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|USH2A|USH2A|transcript|NM_206933.2|protein_coding|63/72|c.12612A>G|p.Thr4204Thr|12999/18883|12612/15609|4204/5202||;p3_1000G_AA=T|||;p3_1000G_AC=3454;p3_1000G_AF=0.689696;p3_1000G_AFR_AF=0.6127;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=21060;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.8091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215848641;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2812,1594;ESP6500_AA_AGE=665.9+/-401.6;ESP6500_AA_GTC=894,1024,285;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=-2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=123;ESP6500_EA_AC=7000,1600;ESP6500_EA_AGE=742.9+/-407.2;ESP6500_EA_GTC=2845,1310,145;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:coding-synonymous;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:215675299;ESP6500_GTC=3739,2334,430;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.12612A>G;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(T4204);ESP6500_MAF=18.6047,36.1779,24.5579;ESP6500_TAC=9812,3194;CLINVAR_ALLELEID=172380;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.215675299T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2797235	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1396,0,967
chr1	215675702	rs4443864	C	G	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.732;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.53;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4443864;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|62/71|c.12295-86G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1227;p3_1000G_AF=0.245008;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=18783;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215849044;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:58:222,0,58
chr1	215680406	rs397828675;rs569390636;rs5780842	GT	G	945.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.27;SOR=1.209;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5780842;dbSNPBuildID=134,142,138;ANN=G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|61/71|c.12067-31delA||||||;p3_1000G_AC=3984;p3_1000G_AF=0.8046857643862336;p3_1000G_AFR_AF=0.6859923387514234;p3_1000G_AMR_AF=0.8946525135189264;p3_1000G_AN=4951;p3_1000G_DP=17632;p3_1000G_EAS_AF=0.846046046046046;p3_1000G_EUR_AF=0.8824649298597195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215853748;p3_1000G_GRCH37_REF=GTT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_RSID_REMOVED=rs536836954,rs550693192,rs529516454;p3_1000G_SAS_AF=0.7732405726961081;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,36:36:99:983,108,0
chr1	215680493	rs12140451	A	G	715.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12140451;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|61/71|c.12067-117T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1277;p3_1000G_AF=0.254992;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=19591;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.2117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215853835;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:744,63,0
chr1	215680558	rs4375237	G	C	170.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4375237;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|61/71|c.12067-182C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1811;p3_1000G_AF=0.361621;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=19329;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.2187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215853900;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:199,15,0
chr1	215741304	rs6694510	T	A	870.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6694510;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|60/71|c.11711+71A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1392;p3_1000G_AF=0.277955;p3_1000G_AFR_AF=0.23;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=18365;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.2425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215914646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:899,78,0
chr1	215759615	rs17025373	G	A	241.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17025373;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|57/71|c.11231+45C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=662;p3_1000G_AF=0.132188;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=16793;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215932957;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=54,4352;ESP6500_AA_AGE=54.9+/-90.9;ESP6500_AA_GTC=1,52,2150;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=79;ESP6500_EA_AC=542,8058;ESP6500_EA_AGE=150.4+/-205.3;ESP6500_EA_GTC=11,520,3769;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:intron;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:215759615;ESP6500_GTC=12,572,5919;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.11231+45C>T;ESP6500_MAF=6.3023,1.2256,4.5825;ESP6500_TAC=596,12410	GT:AD:DP:GQ:PL	1/1:0,8:8:24:270,24,0
chr1	215782962	rs7518466	A	G	204.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7518466;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|52/71|c.10388-27T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3013;p3_1000G_AF=0.601637;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=14268;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215956304;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3136,1266;ESP6500_AA_GTC=1129,878,194;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=24;ESP6500_EA_AC=4456,4142;ESP6500_EA_GTC=1157,2142,1000;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:intron;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:215782962;ESP6500_GTC=2286,3020,1194;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.10388-27T>C;ESP6500_MAF=48.174,28.7597,41.6;ESP6500_TAC=7592,5408	GT:AD:DP:GQ:PL	1/1:0,6:6:18:233,18,0
chr1	215786825	rs10864198;48344	T	G	1820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=1.848;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10864198;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|USH2A|USH2A|transcript|NM_206933.2|protein_coding|52/72|c.10232A>C|p.Glu3411Ala|10619/18883|10232/15609|3411/5202||;p3_1000G_AA=G|||;p3_1000G_AC=2948;p3_1000G_AF=0.588658;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=17203;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.5358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215960167;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2959,1447;ESP6500_AA_AGE=468.1+/-355.0;ESP6500_AA_GTC=1004,951,248;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=4.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=61;ESP6500_EA_AC=4462,4138;ESP6500_EA_AGE=563.2+/-388.1;ESP6500_EA_GTC=1153,2156,991;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206933.2:missense;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:215786825;ESP6500_GS=107;ESP6500_GTC=2157,3107,1239;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.10232A>C;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(E3411A);ESP6500_MAF=48.1163,32.8416,42.9417;ESP6500_PH=benign:0.0;ESP6500_TAC=7421,5585;CLINVAR_ALLELEID=57506;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.215786825T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):O75445#VAR_050087;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10864198	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1849,153,0
chr1	215999038	rs10864219;48562	A	G	2123.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=1.41;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10864219;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|USH2A|USH2A|transcript|NM_206933.2|protein_coding|34/72|c.6506T>C|p.Ile2169Thr|6893/18883|6506/15609|2169/5202||;p3_1000G_AA=A|||;p3_1000G_AC=2972;p3_1000G_AF=0.59345;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=16630;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216172380;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1932,2474;ESP6500_AA_AGE=549.4+/-377.8;ESP6500_AA_GTC=449,1034,720;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...7399&amp%3Brs...10864219;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=5.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=123;ESP6500_EA_AC=4323,4277;ESP6500_EA_AGE=576.9+/-390.5;ESP6500_EA_GTC=1088,2147,1065;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206933.2:missense;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:215999038;ESP6500_GS=89;ESP6500_GTC=1537,3181,1785;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.6506T>C;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(I2169T);ESP6500_MAF=49.7326,43.8493,48.0932;ESP6500_PH=benign:0.094;ESP6500_TAC=6255,6751;CLINVAR_AF_ESP=0.4809;CLINVAR_ALLELEID=57724;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.215999038A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):O75445#VAR_038364;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10864219	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2152,201,0
chr1	216000310	rs142413495	A	AAAT	79.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.598;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.598;SOR=2.093;INS;HET;VARTYPE=INS;dbSNP138_ID=rs142413495;dbSNPBuildID=134;ANN=AAAT|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|33/71|c.6485+90_6485+92dupATT||||||;p3_1000G_AC=64;p3_1000G_AF=0.0127796;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19539;p3_1000G_EAS_AF=0.0585;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216173652;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,3:6:99:117,0,144
chr1	216046439	rs6657250;167815	A	G	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.649;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.715;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.42;ReadPosRankSum=0.928;SOR=0.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6657250;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|USH2A|USH2A|transcript|NM_206933.2|protein_coding|32/72|c.6317T>C|p.Ile2106Thr|6704/18883|6317/15609|2106/5202||;p3_1000G_AA=G|||;p3_1000G_AC=2983;p3_1000G_AF=0.595647;p3_1000G_AFR_AF=0.7965;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=15317;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216219781;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3352,1054;ESP6500_AA_AGE=385.8+/-325.9;ESP6500_AA_GTC=1266,820,117;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=93;ESP6500_EA_AC=5758,2842;ESP6500_EA_AGE=448.5+/-361.8;ESP6500_EA_GTC=1946,1866,488;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206933.2:missense;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:216046439;ESP6500_GS=89;ESP6500_GTC=3212,2686,605;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.6317T>C;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(I2106T);ESP6500_MAF=33.0465,23.9219,29.9554;ESP6500_PH=benign:0.0;ESP6500_TAC=9110,3896;CLINVAR_ALLELEID=172908;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.216046439A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6657250	GT:AD:DP:GQ:PL	0/1:24,9:33:99:141,0,640
chr1	216073333	rs35944387;rs397829042	AG	A	1640.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=1.981;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35944387;dbSNPBuildID=132,138;ANN=A|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|27/71|c.5573-34delC||||||,A|intron_variant|MODIFIER|LOC102723833|LOC102723833|transcript|NR_125992.1|pseudogene|1/2|n.136+736delG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LOC102723833|LOC102723833|transcript|NR_125993.1|pseudogene|1/1|n.136+736delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GGG|GG|deletion;p3_1000G_AC=3943;p3_1000G_AF=0.78734;p3_1000G_AFR_AF=0.7398;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=18551;p3_1000G_EAS_AF=0.9454;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216246675;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=INDEL;ESP6500_AA_AC=3160,1106;ESP6500_AA_GTC=1170,820,143;ESP6500_CDS_SIZES=NM_206933.2:15609;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=35;ESP6500_EA_AC=5711,2543;ESP6500_EA_GTC=2009,1693,425;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:intron;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:216073333;ESP6500_GTC=3179,2513,568;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.5573-34del1;ESP6500_MAF=30.8093,25.9259,29.1454;ESP6500_TAC=8871,3649	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1678,141,0
chr1	216175422	rs1805049;177992	C	T	944.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1805049;dbSNPBuildID=89;ANN=T|missense_variant|MODERATE|USH2A|USH2A|transcript|NM_206933.2|protein_coding|21/72|c.4457G>A|p.Arg1486Lys|4844/18883|4457/15609|1486/5202||,T|missense_variant|MODERATE|USH2A|USH2A|transcript|NM_007123.5|protein_coding|21/21|c.4457G>A|p.Arg1486Lys|4844/6318|4457/4641|1486/1546||;p3_1000G_AA=C|||;p3_1000G_AC=3317;p3_1000G_AF=0.66234;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=16521;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.6143;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216348764;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2626,1780;ESP6500_AA_AGE=641.4+/-397.5;ESP6500_AA_GTC=804,1018,381;ESP6500_CDS_SIZES=NM_206933.2:15609,NM_007123.5:4641;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=124;ESP6500_EA_AC=5261,3339;ESP6500_EA_AGE=644.1+/-400.0;ESP6500_EA_GTC=1625,2011,664;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206933.2:missense,NM_007123.5:missense;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:216175422;ESP6500_GS=26,26;ESP6500_GTC=2429,3029,1045;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.4457G>A,NM_007123.5:c.4457G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(R1486K),NM_007123.5:p.(R1486K);ESP6500_MAF=38.8256,40.3995,39.3588;ESP6500_PH=benign:0.118,benign:0.118;ESP6500_TAC=7887,5119;CLINVAR_ALLELEID=172529;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.216175422C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1805049	GT:AD:DP:GQ:PL	1/1:0,30:30:90:973,90,0
chr1	216196788	rs386851	T	G	358.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.75;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs386851;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|18/71|c.4082-66A>C||||||,G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_007123.5|protein_coding|18/20|c.4082-66A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4701;p3_1000G_AF=0.938698;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=16859;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.832;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216370130;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:387,30,0
chr1	216217352	rs1324330	C	T	818.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1324330;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|15/71|c.3157+35G>A||||||,T|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_007123.5|protein_coding|15/20|c.3157+35G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2942;p3_1000G_AF=0.58746;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=19388;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216390694;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1579,2827;ESP6500_AA_AGE=488.3+/-361.2;ESP6500_AA_GTC=289,1001,913;ESP6500_CDS_SIZES=NM_206933.2:15609,NM_007123.5:4641;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=69;ESP6500_EA_AC=5222,3378;ESP6500_EA_AGE=633.4+/-398.7;ESP6500_EA_GTC=1602,2018,680;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:intron,NM_007123.5:intron;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:216217352;ESP6500_GTC=1891,3019,1593;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.3157+35G>A,NM_007123.5:c.3157+35G>A;ESP6500_MAF=39.2791,35.8375,47.7087;ESP6500_TAC=6801,6205	GT:AD:DP:GQ:PL	1/1:0,28:28:84:847,84,0
chr1	216321849	rs7515253	T	G	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.411;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.854;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7515253;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|9/71|c.1644+34A>C||||||,G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_007123.5|protein_coding|9/20|c.1644+34A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1320;p3_1000G_AF=0.263578;p3_1000G_AFR_AF=0.3918;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=17006;p3_1000G_EAS_AF=0.129;p3_1000G_EUR_AF=0.2406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216495191;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1613,2793;ESP6500_AA_GTC=340,933,930;ESP6500_CDS_SIZES=NM_206933.2:15609,NM_007123.5:4641;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=66;ESP6500_EA_AC=2058,6542;ESP6500_EA_GTC=289,1480,2531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:intron,NM_007123.5:intron;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:216321849;ESP6500_GTC=629,2413,3461;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.1644+34A>C,NM_007123.5:c.1644+34A>C;ESP6500_MAF=23.9302,36.6092,28.2254;ESP6500_TAC=3671,9335	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,17:31:99:1|0:216321844_AT_A:430,0,377
chr1	216322058	rs2089947	A	G	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.92;ReadPosRankSum=-0.379;SOR=0.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2089947;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|8/71|c.1551-82T>C||||||,G|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_007123.5|protein_coding|8/20|c.1551-82T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1285;p3_1000G_AF=0.256589;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=17327;p3_1000G_EAS_AF=0.129;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216495400;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,19:27:99:620,0,195
chr1	216323605	rs1805050;48431	G	A	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.794;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.13;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805050;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|USH2A|USH2A|transcript|NM_206933.2|protein_coding|8/72|c.1419C>T|p.Thr473Thr|1806/18883|1419/15609|473/5202||,A|synonymous_variant|LOW|USH2A|USH2A|transcript|NM_007123.5|protein_coding|8/21|c.1419C>T|p.Thr473Thr|1806/6318|1419/4641|473/1546||;p3_1000G_AA=G|||;p3_1000G_AC=1317;p3_1000G_AF=0.262979;p3_1000G_AFR_AF=0.3911;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=13391;p3_1000G_EAS_AF=0.129;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216496947;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1694,2712;ESP6500_AA_AGE=512.1+/-368.0;ESP6500_AA_GTC=340,1014,849;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...7399&amp%3Brs...1805050;ESP6500_CDS_SIZES=NM_206933.2:15609,NM_007123.5:4641;ESP6500_CG=0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=148;ESP6500_EA_AC=2149,6451;ESP6500_EA_AGE=369.5+/-335.5;ESP6500_EA_GTC=280,1589,2431;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:coding-synonymous,NM_007123.5:coding-synonymous;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:216323605;ESP6500_GTC=620,2603,3280;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.1419C>T,NM_007123.5:c.1419C>T;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(T473),NM_007123.5:p.(T473);ESP6500_MAF=24.9884,38.4476,29.5479;ESP6500_TAC=3843,9163;CLINVAR_AF_ESP=0.2955;CLINVAR_AF_EXAC=0.25207;CLINVAR_AF_TGP=0.2630;CLINVAR_ALLELEID=57593;CLINVAR_CLNDISDB=MedGen:CN033130,OMIM:500004,SNOMED_CT:57838006|MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=Retinitis_pigmentosa-deafness_syndrome|not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.216323605G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3901;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1805050	GT:AD:DP:GQ:PL	0/1:24,16:40:99:453,0,603
chr1	216327488	rs1339963	G	C	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.316;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=0.404;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1339963;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_206933.2|protein_coding|5/71|c.848+103C>G||||||,C|intron_variant|MODIFIER|USH2A|USH2A|transcript|NM_007123.5|protein_coding|5/20|c.848+103C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.5741;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=17145;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216500830;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,16:26:99:460,0,275
chr1	216418661	rs4253963;48528	T	C	1208.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4253963;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|USH2A|USH2A|transcript|NM_206933.2|protein_coding|3/72|c.504A>G|p.Thr168Thr|891/18883|504/15609|168/5202||,C|synonymous_variant|LOW|USH2A|USH2A|transcript|NM_007123.5|protein_coding|3/21|c.504A>G|p.Thr168Thr|891/6318|504/4641|168/1546||;p3_1000G_AA=t|||;p3_1000G_AC=3169;p3_1000G_AF=0.632788;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=17096;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216592003;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2225,2181;ESP6500_AA_AGE=592.2+/-387.7;ESP6500_AA_GTC=562,1101,540;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...7399&amp%3Brs...4253963;ESP6500_CDS_SIZES=NM_206933.2:15609,NM_007123.5:4641;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=114;ESP6500_EA_AC=5531,3069;ESP6500_EA_AGE=659.9+/-401.7;ESP6500_EA_GTC=1766,1999,535;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206933.2:coding-synonymous,NM_007123.5:coding-synonymous;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:216418661;ESP6500_GTC=2328,3100,1075;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.504A>G,NM_007123.5:c.504A>G;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(T168),NM_007123.5:p.(T168);ESP6500_MAF=35.686,49.5007,40.366;ESP6500_TAC=7756,5250;CLINVAR_ALLELEID=57690;CLINVAR_CLNDISDB=MedGen:CN033130,OMIM:500004,SNOMED_CT:57838006|MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=Retinitis_pigmentosa-deafness_syndrome|not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.216418661T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3758;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4253963	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1237,120,0
chr1	216421964	rs10779261;48507	C	T	2144.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10779261;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|USH2A|USH2A|transcript|NM_206933.2|protein_coding|2/72|c.373G>A|p.Ala125Thr|760/18883|373/15609|125/5202||,T|missense_variant|MODERATE|USH2A|USH2A|transcript|NM_007123.5|protein_coding|2/21|c.373G>A|p.Ala125Thr|760/6318|373/4641|125/1546||;p3_1000G_AA=T|||;p3_1000G_AC=3812;p3_1000G_AF=0.761182;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=19002;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.7326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216595306;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3339,1067;ESP6500_AA_AGE=387.9+/-326.7;ESP6500_AA_GTC=1253,833,117;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...7399&amp%3Brs...10779261;ESP6500_CDS_SIZES=NM_206933.2:15609,NM_007123.5:4641;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=95;ESP6500_EA_AC=6012,2588;ESP6500_EA_AGE=420.6+/-353.4;ESP6500_EA_GTC=2087,1838,375;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206933.2:missense,NM_007123.5:missense;ESP6500_GL=USH2A;ESP6500_GRCh38_POSITION=1:216421964;ESP6500_GS=58,58;ESP6500_GTC=3340,2671,492;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206933.2:c.373G>A,NM_007123.5:c.373G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206933.2:p.(A125T),NM_007123.5:p.(A125T);ESP6500_MAF=30.093,24.217,28.1024;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9351,3655;CLINVAR_ALLELEID=57669;CLINVAR_CLNDISDB=MedGen:CN033130,OMIM:500004,SNOMED_CT:57838006|MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=Retinitis_pigmentosa-deafness_syndrome|not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.216421964C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3766|UniProtKB_(protein):O75445#VAR_025760;CLINVAR_GENEINFO=USH2A:7399;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10779261	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2173,218,0
chr1	216519327	rs945453	C	T	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.64;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=8.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.54;ReadPosRankSum=-1.644;SOR=2.288;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs945453;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243518.1|protein_coding|7/8|c.993G>A|p.Ser331Ser|1279/5392|993/1413|331/470||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243515.1|protein_coding|8/9|c.888G>A|p.Ser296Ser|1425/5538|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243519.1|protein_coding|8/9|c.888G>A|p.Ser296Ser|1429/5542|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001438.3|protein_coding|6/7|c.957G>A|p.Ser319Ser|1130/5243|957/1377|319/458||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243514.1|protein_coding|6/7|c.888G>A|p.Ser296Ser|1326/5439|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243512.1|protein_coding|8/9|c.888G>A|p.Ser296Ser|1149/5262|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243513.1|protein_coding|7/8|c.888G>A|p.Ser296Ser|1169/5282|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243507.1|protein_coding|7/8|c.771G>A|p.Ser257Ser|1493/5606|771/1191|257/396||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243509.1|protein_coding|8/9|c.888G>A|p.Ser296Ser|1584/5697|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243506.1|protein_coding|6/7|c.402G>A|p.Ser134Ser|716/4829|402/822|134/273||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_206594.2|protein_coding|8/9|c.888G>A|p.Ser296Ser|1250/5363|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_206595.2|protein_coding|7/8|c.888G>A|p.Ser296Ser|1132/5245|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243505.1|protein_coding|6/7|c.204G>A|p.Ser68Ser|646/4759|204/624|68/207||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001134285.2|protein_coding|8/9|c.888G>A|p.Ser296Ser|1206/5319|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243510.2|protein_coding|8/9|c.888G>A|p.Ser296Ser|1200/5313|888/1308|296/435||,T|synonymous_variant|LOW|ESRRG|ESRRG|transcript|NM_001243511.2|protein_coding|7/8|c.888G>A|p.Ser296Ser|1082/5195|888/1308|296/435||;p3_1000G_AA=C|||;p3_1000G_AC=3168;p3_1000G_AF=0.632588;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=15698;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.4344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216692669;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2915,1491;ESP6500_AA_AGE=676.3+/-403.2;ESP6500_AA_GTC=956,1003,244;ESP6500_CDS_SIZES=NM_206595.2:1308,NM_206594.2:1308,NM_001438.3:1377,NM_001243519.1:1308,NM_001243518.1:1413,NM_001243515.1:1308,NM_001243514.1:1308,NM_001243513.1:1308,NM_001243512.1:1308,NM_001243511.1:1308,NM_001243510.1:1308,NM_001243509.1:1308,NM_001243507.1:1191,NM_001243506.1:822,NM_001243505.1:624,NM_001134285.2:1308;ESP6500_CG=-11.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=87;ESP6500_EA_AC=3563,5037;ESP6500_EA_AGE=516.1+/-378.7;ESP6500_EA_GTC=742,2079,1479;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206595.2:coding-synonymous,NM_206594.2:coding-synonymous,NM_001438.3:coding-synonymous,NM_001243519.1:coding-synonymous,NM_001243518.1:coding-synonymous,NM_001243515.1:coding-synonymous,NM_001243514.1:coding-synonymous,NM_001243513.1:coding-synonymous,NM_001243512.1:coding-synonymous,NM_001243511.1:coding-synonymous,NM_001243510.1:coding-synonymous,NM_001243509.1:coding-synonymous,NM_001243507.1:coding-synonymous,NM_001243506.1:coding-synonymous,NM_001243505.1:coding-synonymous,NM_001134285.2:coding-synonymous;ESP6500_GL=ESRRG;ESP6500_GRCh38_POSITION=1:216519327;ESP6500_GTC=1698,3082,1723;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206595.2:c.888G>A,NM_206594.2:c.888G>A,NM_001438.3:c.957G>A,NM_001243519.1:c.888G>A,NM_001243518.1:c.993G>A,NM_001243515.1:c.888G>A,NM_001243514.1:c.888G>A,NM_001243513.1:c.888G>A,NM_001243512.1:c.888G>A,NM_001243511.1:c.888G>A,NM_001243510.1:c.888G>A,NM_001243509.1:c.888G>A,NM_001243507.1:c.771G>A,NM_001243506.1:c.402G>A,NM_001243505.1:c.204G>A,NM_001134285.2:c.888G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206595.2:p.(S296),NM_206594.2:p.(S296),NM_001438.3:p.(S319),NM_001243519.1:p.(S296),NM_001243518.1:p.(S331),NM_001243515.1:p.(S296),NM_001243514.1:p.(S296),NM_001243513.1:p.(S296),NM_001243512.1:p.(S296),NM_001243511.1:p.(S296),NM_001243510.1:p.(S296),NM_001243509.1:p.(S296),NM_001243507.1:p.(S257),NM_001243506.1:p.(S134),NM_001243505.1:p.(S68),NM_001134285.2:p.(S296);ESP6500_MAF=41.4302,33.8402,49.8078;ESP6500_TAC=6478,6528	GT:AD:DP:GQ:PL	0/1:23,10:33:99:211,0,615
chr1	216707320	rs11572672	G	A	820.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.566;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=1.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-2.165;SOR=0.929;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11572672;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243518.1|protein_coding|2/7|c.71+39C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243515.1|protein_coding|3/8|c.-14+7196C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243519.1|protein_coding|3/8|c.-14+7196C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001438.3|protein_coding|1/6|c.56+15924C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243514.1|protein_coding|1/6|c.-13-29829C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243512.1|protein_coding|3/8|c.-13-29829C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243513.1|protein_coding|2/7|c.-14+7754C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243507.1|protein_coding|3/7|c.-13-29829C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243509.1|protein_coding|3/8|c.-13-29829C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243506.1|protein_coding|2/6|c.-83-56231C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_206594.2|protein_coding|3/8|c.-13-29829C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_206595.2|protein_coding|2/7|c.-13-29829C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243505.1|protein_coding|3/6|c.-164-139222C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001134285.2|protein_coding|3/8|c.-13-29829C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243510.2|protein_coding|3/8|c.-13-29829C>T||||||,A|intron_variant|MODIFIER|ESRRG|ESRRG|transcript|NM_001243511.2|protein_coding|2/7|c.-13-29829C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=764;p3_1000G_AF=0.152556;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=17675;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.1571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216880662;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,32:59:99:849,0,753
chr1	217491862	rs1242314927;rs34921892;rs771336820	CT	C	11.99	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=5.99;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34921892;dbSNPBuildID=151,144,134;ANN=C|intron_variant|MODIFIER|GPATCH2|GPATCH2|transcript|NM_018040.3|protein_coding|7/9|c.1207-113delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2450;p3_1000G_AF=0.489217;p3_1000G_AFR_AF=0.5136;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=15998;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217665204;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:48,6,0
chr1	217774396	rs6604561	G	A	768.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6604561;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|SPATA17|SPATA17|transcript|NM_138796.3|protein_coding|7/11|c.582G>A|p.Gln194Gln|637/2275|582/1086|194/361||;p3_1000G_AA=A|||;p3_1000G_AC=3640;p3_1000G_AF=0.726837;p3_1000G_AFR_AF=0.6861;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=15725;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.8101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217947738;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3132,1274;ESP6500_AA_AGE=434.3+/-343.9;ESP6500_AA_GTC=1097,938,168;ESP6500_CDS_SIZES=NM_138796.2:1086;ESP6500_CG=2.5;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=99;ESP6500_EA_AC=6872,1728;ESP6500_EA_AGE=315.7+/-312.4;ESP6500_EA_GTC=2756,1360,184;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138796.2:coding-synonymous;ESP6500_GL=SPATA17;ESP6500_GRCh38_POSITION=1:217774396;ESP6500_GTC=3853,2298,352;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_138796.2:c.582G>A;ESP6500_HGVS_PROTEIN_VAR=NM_138796.2:p.(Q194);ESP6500_MAF=20.093,28.9151,23.0817;ESP6500_TAC=10004,3002	GT:AD:DP:GQ:PL	1/1:0,25:25:75:797,75,0
chr1	218437320	rs555940010;rs760989007	CTT	C	1487.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=0;SOR=0.797;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144,142;ANN=C|splice_region_variant&intron_variant|LOW|TGFB2|TGFB2|transcript|NM_001135599.3|protein_coding|6/7|c.1017-7_1017-6delTT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|TGFB2|TGFB2|transcript|NM_003238.4|protein_coding|5/6|c.933-7_933-6delTT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|TGFB2|TGFB2|transcript|NR_138148.1|pseudogene|5/6|n.2236-7_2236-6delTT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|TGFB2|TGFB2|transcript|NR_138149.1|pseudogene|6/7|n.2320-7_2320-6delTT||||||INFO_REALIGN_3_PRIME,C|upstream_gene_variant|MODIFIER|MIR548F3|MIR548F3|transcript|NR_031644.1|pseudogene||n.-312_-311delTT|||||312|	GT:AD:DP:GQ:PL	1/0:10,16:26:99:1525,946,1230
chr1	218437320	.	CTT	CT	1487.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=0;SOR=0.797;DEL;HET;VARTYPE=DEL;ANN=CT|splice_region_variant&intron_variant|LOW|TGFB2|TGFB2|transcript|NM_001135599.3|protein_coding|6/7|c.1017-6delT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|TGFB2|TGFB2|transcript|NM_003238.4|protein_coding|5/6|c.933-6delT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|TGFB2|TGFB2|transcript|NR_138148.1|pseudogene|5/6|n.2236-6delT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|TGFB2|TGFB2|transcript|NR_138149.1|pseudogene|6/7|n.2320-6delT||||||INFO_REALIGN_3_PRIME,CT|upstream_gene_variant|MODIFIER|MIR548F3|MIR548F3|transcript|NR_031644.1|pseudogene||n.-311delT|||||311|	GT:AD:DP:GQ:PL	0/1:10,54:64:99:1525,205,188
chr1	219193058	rs60036848;rs28760441	T	TG	312.76	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=24.06;ReadPosRankSum=-1.338;SOR=3.767;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35359058,rs60036848;dbSNPBuildID=129;ANN=TG|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_138794.4|protein_coding|2/4|c.192-15dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_001300769.1|protein_coding|2/3|c.191+13821dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_001300770.1|protein_coding|2/4|c.192-63dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_001300771.1|protein_coding|2/4|c.78-15dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_001300772.1|protein_coding|2/4|c.78-15dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3673;p3_1000G_AF=0.733427;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=15290;p3_1000G_EAS_AF=0.6438;p3_1000G_EUR_AF=0.7823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219366400;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:1,12:13:22:350,22,0
chr1	219210506	rs3087015;rs5781096	A	ACTTTTT	260.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.72;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5781096,rs3087015;dbSNPBuildID=132,102;ANN=ACTTTTT|splice_region_variant&intron_variant|LOW|LYPLAL1|LYPLAL1|transcript|NM_001300769.1|protein_coding|2/3|c.192-4_192-3insTCTTTT||||||INFO_REALIGN_3_PRIME,ACTTTTT|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_138794.4|protein_coding|3/4|c.362-21_362-20insTCTTTT||||||INFO_REALIGN_3_PRIME,ACTTTTT|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_001300770.1|protein_coding|3/4|c.314-21_314-20insTCTTTT||||||INFO_REALIGN_3_PRIME,ACTTTTT|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_001300771.1|protein_coding|3/4|c.248-21_248-20insTCTTTT||||||INFO_REALIGN_3_PRIME,ACTTTTT|intron_variant|MODIFIER|LYPLAL1|LYPLAL1|transcript|NM_001300772.1|protein_coding|3/4|c.248-21_248-20insTCTTTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4815;p3_1000G_AF=0.961462;p3_1000G_AFR_AF=0.8563;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=14289;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219383848;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:21:298,21,0
chr1	219210525	rs940571	T	C	307.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.65;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs940571;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|LYPLAL1|LYPLAL1|transcript|NM_001300769.1|protein_coding|3/4|c.202T>C|p.Phe68Leu|262/1758|202/561|68/186||,C|splice_region_variant&intron_variant|LOW|LYPLAL1|LYPLAL1|transcript|NM_138794.4|protein_coding|3/4|c.362-7T>C||||||,C|splice_region_variant&intron_variant|LOW|LYPLAL1|LYPLAL1|transcript|NM_001300770.1|protein_coding|3/4|c.314-7T>C||||||,C|splice_region_variant&intron_variant|LOW|LYPLAL1|LYPLAL1|transcript|NM_001300771.1|protein_coding|3/4|c.248-7T>C||||||,C|splice_region_variant&intron_variant|LOW|LYPLAL1|LYPLAL1|transcript|NM_001300772.1|protein_coding|3/4|c.248-7T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4809;p3_1000G_AF=0.960264;p3_1000G_AFR_AF=0.8517;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=13725;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219383867;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3885,521;ESP6500_AA_AGE=220.7+/-238.1;ESP6500_AA_GTC=1711,463,29;ESP6500_CDS_SIZES=NM_138794.3:714;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=55;ESP6500_EA_AC=8593,3;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4295,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138794.3:intron;ESP6500_GL=LYPLAL1;ESP6500_GRCh38_POSITION=1:219210525;ESP6500_GTC=6006,466,29;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138794.3:c.362-7T>C;ESP6500_MAF=0.0349,11.8248,4.0301;ESP6500_TAC=12478,524	GT:AD:DP:GQ:PL	1/1:0,12:12:35:336,35,0
chr1	219210563	rs940570	A	G	383.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.58;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs940570;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|LYPLAL1|LYPLAL1|transcript|NM_138794.4|protein_coding|4/5|c.393A>G|p.Ile131Met|453/1911|393/714|131/237||,G|missense_variant|MODERATE|LYPLAL1|LYPLAL1|transcript|NM_001300769.1|protein_coding|3/4|c.240A>G|p.Ile80Met|300/1758|240/561|80/186||,G|missense_variant|MODERATE|LYPLAL1|LYPLAL1|transcript|NM_001300770.1|protein_coding|4/5|c.345A>G|p.Ile115Met|405/1863|345/666|115/221||,G|missense_variant|MODERATE|LYPLAL1|LYPLAL1|transcript|NM_001300771.1|protein_coding|4/5|c.279A>G|p.Ile93Met|436/1894|279/600|93/199||,G|missense_variant|MODERATE|LYPLAL1|LYPLAL1|transcript|NM_001300772.1|protein_coding|4/5|c.279A>G|p.Ile93Met|354/1812|279/600|93/199||;p3_1000G_AA=G|||;p3_1000G_AC=4824;p3_1000G_AF=0.963259;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=14459;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219383905;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3947,459;ESP6500_AA_AGE=219.7+/-237.4;ESP6500_AA_GTC=1765,417,21;ESP6500_CDS_SIZES=NM_138794.3:714;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=84;ESP6500_EA_AC=8596,2;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4297,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138794.3:missense;ESP6500_GL=LYPLAL1;ESP6500_GRCh38_POSITION=1:219210563;ESP6500_GS=10;ESP6500_GTC=6062,419,21;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138794.3:c.393A>G;ESP6500_HGVS_PROTEIN_VAR=NM_138794.3:p.(I131M);ESP6500_MAF=0.0233,10.4176,3.5451;ESP6500_PH=benign:0.0;ESP6500_TAC=12543,461	GT:AD:DP:GQ:PL	1/1:0,15:15:45:412,45,0
chr1	219609937	rs2653989	T	A	3598.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.211;ClippingRankSum=0;DP=226;ExcessHet=3.0103;FS=3.198;MLEAC=1;MLEAF=0.5;MQ=43.9;MQRankSum=-9.8;QD=15.92;ReadPosRankSum=0.497;SOR=0.942;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79789352;dbSNPBuildID=100;ANN=A|intergenic_region|MODIFIER|LOC102723886-SLC30A10|LOC102723886-SLC30A10|intergenic_region|LOC102723886-SLC30A10|||n.219609937T>A||||||	GT:AD:DP:GQ:PL	0/1:75,151:226:99:3627,0,1630
chr1	219610367	rs3799941	G	A	142.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.426;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=8.92;ReadPosRankSum=-0.063;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368783050;dbSNPBuildID=111;ANN=A|intergenic_region|MODIFIER|LOC102723886-SLC30A10|LOC102723886-SLC30A10|intergenic_region|LOC102723886-SLC30A10|||n.219610367G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1894;p3_1000G_AF=0.378195;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs368783050;p3_1000G_DP=20745;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219783709;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:171,0,238
chr1	219916010	rs2231734	A	C	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.984;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=0.042;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2231734;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|SLC30A10|SLC30A10|transcript|NM_018713.2|protein_coding|3/3|c.959-62T>G||||||,C|intron_variant|MODIFIER|SLC30A10|SLC30A10|transcript|NR_046437.1|pseudogene|3/3|n.1208-62T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1465;p3_1000G_AF=0.292532;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=21159;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.3857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220089352;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,8:23:99:198,0,494
chr1	219972029	rs2795315	T	G	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=8.195;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=-1.408;SOR=3.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2795315;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|30/31|c.4323+40A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4458;p3_1000G_AF=0.890176;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=12721;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220145371;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8487;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4221,179;ESP6500_AA_AGE=105.2+/-143.6;ESP6500_AA_GTC=2032,157,11;ESP6500_CDS_SIZES=NM_004446.2:4539;ESP6500_CG=2.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=7059,1519;ESP6500_EA_AGE=268.3+/-287.8;ESP6500_EA_GTC=2892,1275,122;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004446.2:intron;ESP6500_GL=EPRS;ESP6500_GRCh38_POSITION=1:219972029;ESP6500_GTC=4924,1432,133;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004446.2:c.4323+40A>C;ESP6500_MAF=17.7081,4.0682,13.0837;ESP6500_TAC=11280,1698	GT:AD:DP:GQ:PL	0/1:5,7:12:99:268,0,100
chr1	219972242	rs1982986	C	T	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.13;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=11.335;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.57;ReadPosRankSum=-0.82;SOR=4.565;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1982986;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|29/31|c.4245-95G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2386;p3_1000G_AF=0.476438;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=16922;p3_1000G_EAS_AF=0.5804;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220145584;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,12:17:90:446,0,90
chr1	219978466	rs3215088;rs144201093	C	CAA	181.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.151;SOR=0.963;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3215088;dbSNPBuildID=106;ANN=CAA|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|28/31|c.4083+79_4083+80insTT||||||;p3_1000G_AC=2390;p3_1000G_AF=0.477236;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=16900;p3_1000G_EAS_AF=0.5804;p3_1000G_EUR_AF=0.501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220151808;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:11,6:17:99:219,0,504
chr1	219979990	rs3835619;rs386369689	T	TAA	354.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.71;ReadPosRankSum=-0.865;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34917248,rs3835619;dbSNPBuildID=107,138;ANN=TAA|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|26/31|c.3711+93_3711+94dupTT||||||;p3_1000G_AC=4189;p3_1000G_AF=0.836462;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=17175;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.8111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220153332;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,9:18:99:392,0,352
chr1	219980904	rs35193743;rs531832951	AT	A	25.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-0.484;SOR=0.086;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35193743;dbSNPBuildID=126,142;ANN=A|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|24/31|c.3454-48delA||||||	GT:AD:DP:GQ:PL	0/1:4,3:7:63:63,0,86
chr1	219981317	rs1448395044	TAA	T	22.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=0.967;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|24/31|c.3453+59_3453+60delTT||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:24:60,0,24
chr1	219982748	rs2647462	T	C	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.356;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=0.954;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2647462;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|23/31|c.3373+24A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4189;p3_1000G_AF=0.836462;p3_1000G_AFR_AF=0.7995;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=15785;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.8111;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220156090;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3500,906;ESP6500_AA_AGE=349.3+/-310.3;ESP6500_AA_GTC=1391,718,94;ESP6500_CDS_SIZES=NM_004446.2:4539;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=133;ESP6500_EA_AC=7066,1534;ESP6500_EA_AGE=288.0+/-298.5;ESP6500_EA_GTC=2889,1288,123;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004446.2:intron;ESP6500_GL=EPRS;ESP6500_GRCh38_POSITION=1:219982748;ESP6500_GTC=4280,2006,217;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004446.2:c.3373+24A>G;ESP6500_MAF=17.8372,20.5629,18.7606;ESP6500_TAC=10566,2440	GT:AD:DP:GQ:PL	0/1:20,12:32:99:267,0,494
chr1	219987091	rs2647434	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.345;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.123;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.72;SOR=0.141;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2647434;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|20/31|c.3038+51T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4487;p3_1000G_AF=0.895966;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=17877;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.7952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220160433;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4217,189;ESP6500_AA_AGE=113.3+/-151.4;ESP6500_AA_GTC=2024,169,10;ESP6500_CDS_SIZES=NM_004446.2:4539;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=6956,1642;ESP6500_EA_AGE=290.1+/-299.6;ESP6500_EA_GTC=2815,1326,158;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004446.2:intron;ESP6500_GL=EPRS;ESP6500_GRCh38_POSITION=1:219987091;ESP6500_GTC=4839,1495,168;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004446.2:c.3038+51T>C;ESP6500_MAF=19.0975,4.2896,14.0803;ESP6500_TAC=11173,1831	GT:AD:DP:GQ:PL	0/1:5,8:13:99:229,0,155
chr1	219988853	rs2254494	T	C	130.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.16;ReadPosRankSum=0.524;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2254494;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|18/31|c.2542-30A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2806;p3_1000G_AF=0.560304;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=14651;p3_1000G_EAS_AF=0.5804;p3_1000G_EUR_AF=0.666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220162195;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1878,2314;ESP6500_AA_GTC=459,960,677;ESP6500_CDS_SIZES=NM_004446.2:4539;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=28;ESP6500_EA_AC=5954,2588;ESP6500_EA_GTC=2096,1762,413;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004446.2:intron;ESP6500_GL=EPRS;ESP6500_GRCh38_POSITION=1:219988853;ESP6500_GTC=2555,2722,1090;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004446.2:c.2542-30A>G;ESP6500_MAF=30.2974,44.7996,38.4954;ESP6500_TAC=7832,4902	GT:AD:DP:GQ:PL	0/1:1,4:5:21:159,0,21
chr1	220005375	rs5781162;~rs5781162	T	TA	246.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.586;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.542;SOR=0.732;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5781162;dbSNPBuildID=132;ANN=TA|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|15/31|c.1951-16dupT||||||;p3_1000G_AA=AAAA|AAA|AAAA|deletion;p3_1000G_AC=4502;p3_1000G_AF=0.898962;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=17359;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220178717;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=INDEL;ESP6500_AA_AC=4077,187;ESP6500_AA_GTC=1956,165,11;ESP6500_CDS_SIZES=NM_004446.2:4539;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=66;ESP6500_EA_AC=6676,1570;ESP6500_EA_GTC=2699,1278,146;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004446.2:intron;ESP6500_GL=EPRS;ESP6500_GRCh38_POSITION=1:220005375;ESP6500_GTC=4655,1443,157;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004446.2:c.1951-16_1951-15insT;ESP6500_MAF=19.0395,4.3856,14.0448;ESP6500_TAC=10753,1757	GT:AD:DP:GQ:PL	0/1:17,11:28:99:284,0,502
chr1	220010822	.	A	AAAAG	93.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.253;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-1.834;SOR=1.329;INS;HET;VARTYPE=INS;ANN=AAAAG|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|13/31|c.1605+120_1605+123dupCTTT||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:50:131,0,50
chr1	220018590	rs35962858;rs397950364	G	GA	24.91	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=1.15;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35962858;dbSNPBuildID=126,138;ANN=GA|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|11/31|c.1435-83dupT||||||	GT:AD:DP:GQ:PL	0/1:1,3:4:14:62,0,14
chr1	220019153	rs2245457	C	G	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.309;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.637;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2245457;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|10/31|c.1350-74G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4502;p3_1000G_AF=0.898962;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=17476;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220192495;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:246,0,308
chr1	220024203	rs2577159	C	T	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.2;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.22;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2577159;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|8/31|c.943+61G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4149;p3_1000G_AF=0.828474;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=19353;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220197545;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:133,0,173
chr1	220024244	.	T	A	15.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.602;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=4.616;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=-1.602;SOR=0.048;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|8/31|c.943+20A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:44:0|1:220024244_T_A:44,0,427
chr1	220024246	.	T	A	15.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.602;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=4.616;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=-1.922;SOR=0.048;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|8/31|c.943+18A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:44:0|1:220024244_T_A:44,0,427
chr1	220024283	rs2230301	G	T	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.447;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=2.32;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230301;dbSNPBuildID=102;ANN=T|missense_variant|MODERATE|EPRS|EPRS|transcript|NM_004446.2|protein_coding|8/32|c.924C>A|p.Asp308Glu|1194/5015|924/4539|308/1512||;p3_1000G_AA=T|||;p3_1000G_AC=4502;p3_1000G_AF=0.898962;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=18373;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.7932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220197625;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4216,190;ESP6500_AA_AGE=119.6+/-157.3;ESP6500_AA_GTC=2023,170,10;ESP6500_CDS_SIZES=NM_004446.2:4539;ESP6500_CG=-1.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=81;ESP6500_EA_AC=6957,1643;ESP6500_EA_AGE=302.8+/-306.1;ESP6500_EA_GTC=2812,1333,155;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004446.2:missense;ESP6500_GL=EPRS;ESP6500_GRCh38_POSITION=1:220024283;ESP6500_GS=45;ESP6500_GTC=4835,1503,165;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_004446.2:c.924C>A;ESP6500_HGVS_PROTEIN_VAR=NM_004446.2:p.(D308E);ESP6500_MAF=19.1047,4.3123,14.0935;ESP6500_PH=benign:0.0;ESP6500_TAC=11173,1833	GT:AD:DP:GQ:PL	0/1:11,9:20:99:226,0,334
chr1	220032362	rs3738339;rs28612895	T	A	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=-0.484;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738339;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|5/31|c.528+25A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1053;p3_1000G_AF=0.210264;p3_1000G_AFR_AF=0.2526;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=14190;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220205704;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=479,3927;ESP6500_AA_GTC=59,361,1783;ESP6500_CDS_SIZES=NM_004446.2:4539;ESP6500_CG=0.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=24;ESP6500_EA_AC=172,8428;ESP6500_EA_GTC=15,142,4143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004446.2:intron;ESP6500_GL=EPRS;ESP6500_GRCh38_POSITION=1:220032362;ESP6500_GTC=74,503,5926;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004446.2:c.528+25A>T;ESP6500_MAF=2.0,10.8715,5.0054;ESP6500_TAC=651,12355	GT:AD:DP:GQ:PL	0/1:4,3:7:79:79,0,94
chr1	220032601	rs2789816	G	A	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.843;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.304;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2789816;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|4/31|c.389-75C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4148;p3_1000G_AF=0.828275;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=18803;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220205943;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:234,0,138
chr1	220032638	rs2577138	A	C	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.11;ReadPosRankSum=0.712;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2577138;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|4/31|c.389-112T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4149;p3_1000G_AF=0.828474;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=18292;p3_1000G_EAS_AF=0.9385;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220205980;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:52:197,0,52
chr1	220033675	rs2647456	C	T	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.083;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.51;SOR=0.175;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2647456;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|3/31|c.232-17G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4503;p3_1000G_AF=0.899161;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=15843;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.7932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220207017;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4215,191;ESP6500_AA_AGE=115.4+/-153.4;ESP6500_AA_GTC=2023,169,11;ESP6500_CDS_SIZES=NM_004446.2:4539;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=6958,1642;ESP6500_EA_AGE=295.9+/-302.6;ESP6500_EA_GTC=2814,1330,156;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004446.2:intron;ESP6500_GL=EPRS;ESP6500_GRCh38_POSITION=1:220033675;ESP6500_GTC=4837,1499,167;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004446.2:c.232-17G>A;ESP6500_MAF=19.093,4.335,14.0935;ESP6500_TAC=11173,1833	GT:AD:DP:GQ:PL	0/1:13,9:22:99:218,0,424
chr1	220034812	rs2789817	C	A	274.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.384;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-1.639;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2789817;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EPRS|EPRS|transcript|NM_004446.2|protein_coding|3/31|c.231+102G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4146;p3_1000G_AF=0.827875;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=18664;p3_1000G_EAS_AF=0.9385;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220208154;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,10:16:99:303,0,208
chr1	220066106	rs1146773	T	C	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.516;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.712;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1146773;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|BPNT1|BPNT1|transcript|NM_006085.5|protein_coding|6/8|c.474+1196A>G||||||,C|intron_variant|MODIFIER|BPNT1|BPNT1|transcript|NM_001286149.1|protein_coding|5/7|c.309+1196A>G||||||,C|intron_variant|MODIFIER|BPNT1|BPNT1|transcript|NM_001286150.1|protein_coding|5/7|c.366+1196A>G||||||,C|intron_variant|MODIFIER|BPNT1|BPNT1|transcript|NM_001286151.1|protein_coding|5/7|c.309+1196A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3294;p3_1000G_AF=0.657748;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=17747;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.8559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220239448;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:270,0,454
chr1	220066223	rs41274794	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.875;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.629;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41274794;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|BPNT1|BPNT1|transcript|NM_006085.5|protein_coding|6/8|c.474+1079T>C||||||,G|intron_variant|MODIFIER|BPNT1|BPNT1|transcript|NM_001286149.1|protein_coding|5/7|c.309+1079T>C||||||,G|intron_variant|MODIFIER|BPNT1|BPNT1|transcript|NM_001286150.1|protein_coding|5/7|c.366+1079T>C||||||,G|intron_variant|MODIFIER|BPNT1|BPNT1|transcript|NM_001286151.1|protein_coding|5/7|c.309+1079T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=293;p3_1000G_AF=0.0585064;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=17505;p3_1000G_EAS_AF=0.0506;p3_1000G_EUR_AF=0.0815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220239565;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:255,0,202
chr1	220096097	rs78836180;380023	A	T	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=-0.921;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78836180;dbSNPBuildID=134;ANN=T|splice_region_variant&intron_variant|LOW|IARS2|IARS2|transcript|NM_018060.3|protein_coding|1/22|c.268-7A>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=357;p3_1000G_AF=0.0712859;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=16379;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.0855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220269439;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=61,4341;ESP6500_AA_GTC=2,57,2142;ESP6500_CDS_SIZES=NM_018060.3:3039;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_133;ESP6500_DP=31;ESP6500_EA_AC=388,8210;ESP6500_EA_GTC=35,318,3946;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018060.3:intron;ESP6500_GL=IARS2;ESP6500_GRCh38_POSITION=1:220096097;ESP6500_GTC=37,375,6088;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_018060.3:c.268-7A>T;ESP6500_MAF=4.5127,1.3857,3.4538;ESP6500_TAC=449,12551;CLINVAR_ALLELEID=364786;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.220096097A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=IARS2:55699;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=78836180	GT:AD:DP:GQ:PL	0/1:2,6:8:48:176,0,48
chr1	220126693	rs2289191	T	C	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.624;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.365;SOR=1.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289191;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|IARS2|IARS2|transcript|NM_018060.3|protein_coding|13/22|c.1744-57T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=194;p3_1000G_AF=0.038738;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=18426;p3_1000G_EAS_AF=0.0308;p3_1000G_EUR_AF=0.0726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220300035;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,16:33:99:454,0,383
chr1	220145665	rs75519000;380024	A	G	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.76;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=0.66;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75519000;dbSNPBuildID=132;ANN=G|downstream_gene_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding||c.*5586T>C|||||2603|,G|intron_variant|MODIFIER|IARS2|IARS2|transcript|NM_018060.3|protein_coding|22/22|c.2896+12A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=346;p3_1000G_AF=0.0690895;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=19452;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.0855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220319007;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=203,4203;ESP6500_AA_AGE=801.1+/-415.6;ESP6500_AA_GTC=7,189,2007;ESP6500_CDS_SIZES=NM_018060.3:3039;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=38;ESP6500_EA_AC=810,7790;ESP6500_EA_AGE=774.6+/-407.7;ESP6500_EA_GTC=41,728,3531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018060.3:intron;ESP6500_GL=IARS2;ESP6500_GRCh38_POSITION=1:220145665;ESP6500_GTC=48,917,5538;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018060.3:c.2896+12A>G;ESP6500_MAF=9.4186,4.6074,7.7887;ESP6500_TAC=1013,11993;CLINVAR_ALLELEID=364901;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.220145665A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=IARS2:55699;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=75519000	GT:AD:DP:GQ:PL	0/1:8,3:11:82:82,0,221
chr1	220157330	rs11547779;130080	C	T	1521.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.612;ClippingRankSum=0;DP=125;ExcessHet=3.0103;FS=0.669;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.101;SOR=0.6;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11547779;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|31/35|c.3495G>A|p.Leu1165Leu|3659/7329|3495/4182|1165/1393||;p3_1000G_AA=C|||;p3_1000G_AC=303;p3_1000G_AF=0.0605032;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=19662;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.0885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220330672;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=95,4311;ESP6500_AA_AGE=76.8+/-115.0;ESP6500_AA_GTC=2,91,2110;ESP6500_CDS_SIZES=NM_012414.3:4182;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=805,7795;ESP6500_EA_AGE=187.2+/-234.5;ESP6500_EA_GTC=40,725,3535;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012414.3:coding-synonymous;ESP6500_GL=RAB3GAP2;ESP6500_GRCh38_POSITION=1:220157330;ESP6500_GTC=42,816,5645;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012414.3:c.3495G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012414.3:p.(L1165);ESP6500_MAF=9.3605,2.1562,6.9199;ESP6500_TAC=900,12106;CLINVAR_AF_ESP=0.0692;CLINVAR_AF_EXAC=0.08763;CLINVAR_AF_TGP=0.0605;CLINVAR_ALLELEID=135526;CLINVAR_CLNDISDB=MedGen:C0796037,OMIM:212720,Orphanet:ORPHA1387|MedGen:CN158709,Orphanet:ORPHA2510|MedGen:CN169374;CLINVAR_CLNDN=Martsolf_syndrome|Warburg_micro_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.220157330C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3964;CLINVAR_GENEINFO=RAB3GAP2:25782;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11547779	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1550,0,1662
chr1	220157863	rs2289189;130079	C	G	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.6;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.574;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.253;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289189;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|30/35|c.3275G>C|p.Ser1092Thr|3439/7329|3275/4182|1092/1393||;p3_1000G_AA=C|||;p3_1000G_AC=302;p3_1000G_AF=0.0603035;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=18060;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.0885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220331205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=95,4311;ESP6500_AA_AGE=76.2+/-114.5;ESP6500_AA_GTC=2,91,2110;ESP6500_CDS_SIZES=NM_012414.3:4182;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=97;ESP6500_EA_AC=805,7795;ESP6500_EA_AGE=186.9+/-234.3;ESP6500_EA_GTC=40,725,3535;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012414.3:missense;ESP6500_GL=RAB3GAP2;ESP6500_GRCh38_POSITION=1:220157863;ESP6500_GS=58;ESP6500_GTC=42,816,5645;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_012414.3:c.3275G>C;ESP6500_HGVS_PROTEIN_VAR=NM_012414.3:p.(S1092T);ESP6500_MAF=9.3605,2.1562,6.9199;ESP6500_PH=probably-damaging:0.989;ESP6500_TAC=900,12106;CLINVAR_AF_ESP=0.0692;CLINVAR_AF_EXAC=0.08945;CLINVAR_AF_TGP=0.0603;CLINVAR_ALLELEID=135525;CLINVAR_CLNDISDB=MedGen:C0796037,OMIM:212720,Orphanet:ORPHA1387|MedGen:CN158709,Orphanet:ORPHA2510|MedGen:CN169374;CLINVAR_CLNDN=Martsolf_syndrome|Warburg_micro_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.220157863C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3974|UniProtKB_(protein):Q9H2M9#VAR_021589;CLINVAR_GENEINFO=RAB3GAP2:25782;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2289189	GT:AD:DP:GQ:PL	0/1:15,12:27:99:284,0,446
chr1	220157956	rs3767655	C	G	23.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.943;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=0.447;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3767655;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|29/34|c.3262-80G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=303;p3_1000G_AF=0.0605032;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=19879;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.0885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220331298;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,2:11:52:52,0,321
chr1	220159210	rs2789792	C	T	82.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2789792;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|29/34|c.3261+176G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2768;p3_1000G_AF=0.552716;p3_1000G_AFR_AF=0.7458;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=16375;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.3101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220332552;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:110,9,0
chr1	220159534	rs2808026	G	A	45.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2808026;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|28/34|c.3226-113C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2768;p3_1000G_AF=0.552716;p3_1000G_AFR_AF=0.7458;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=14544;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.3101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220332876;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:73,6,0
chr1	220162088	rs2164790	A	G	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.833;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=0.164;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2164790;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|28/34|c.3225+110T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1493;p3_1000G_AF=0.298123;p3_1000G_AFR_AF=0.3835;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=15946;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.1789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220335430;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:374,0,196
chr1	220172536	rs41303055	A	G	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.024;SOR=2.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41303055;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|22/34|c.2416+101T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=324;p3_1000G_AF=0.0646965;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=16858;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.0885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220345878;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:189,0,99
chr1	220193155	rs78010602	T	A	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.921;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.239;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78010602;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|13/34|c.1270+85A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=269;p3_1000G_AF=0.0537141;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=20063;p3_1000G_EAS_AF=0.0506;p3_1000G_EUR_AF=0.0885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220366497;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,17:28:99:480,0,279
chr1	220196403	rs35396665;295665	TA	T	252.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.613;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-1.479;SOR=0.519;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35396665;dbSNPBuildID=136;ANN=T|splice_region_variant&intron_variant|LOW|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|9/34|c.812-6delT||||||,T|downstream_gene_variant|MODIFIER|MIR664A|MIR664A|transcript|NR_031705.1|pseudogene||n.*4138delT|||||4138|,T|downstream_gene_variant|MODIFIER|SNORA36B|SNORA36B|transcript|NR_002994.2|pseudogene||n.*4144delT|||||4144|;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1523;p3_1000G_AF=0.304113;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=16889;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.2296;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220369745;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=INDEL;CLINVAR_AF_EXAC=0.00611;CLINVAR_AF_TGP=0.3041;CLINVAR_ALLELEID=280845;CLINVAR_CLNDISDB=MedGen:C0796037,OMIM:212720,Orphanet:ORPHA1387|MedGen:CN158709,Orphanet:ORPHA2510;CLINVAR_CLNDN=Martsolf_syndrome|Warburg_micro_syndrome;CLINVAR_CLNHGVS=NC_000001.11:g.220196404delA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:502789;CLINVAR_GENEINFO=RAB3GAP2:25782;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35396665	GT:AD:DP:GQ:PL	0/1:11,13:24:99:290,0,218
chr1	220202133	.	C	A	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=A|upstream_gene_variant|MODIFIER|MIR664A|MIR664A|transcript|NR_031705.1|pseudogene||n.-1514G>T|||||1514|,A|upstream_gene_variant|MODIFIER|SNORA36B|SNORA36B|transcript|NR_002994.2|pseudogene||n.-1457G>T|||||1457|,A|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|9/34|c.811+143G>T||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr1	220232949	rs10863538	A	G	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.95;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=0.368;SOR=2.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10863538;dbSNPBuildID=120;ANN=G|sequence_feature|MODERATE|RAB3GAP2|RAB3GAP2|modified-residue:Phosphoserine|NM_012414.3|protein_coding|1/34|c.116-86T>C||||||,G|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|1/34|c.116-86T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2508;p3_1000G_AF=0.500799;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=17271;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220406291;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:288,0,223
chr1	220267543	rs34147613;rs397814336	C	CT	457.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.237;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.777;SOR=0.859;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34147613;dbSNPBuildID=137,138;ANN=CT|sequence_feature|MODERATE|RAB3GAP2|RAB3GAP2|modified-residue:Phosphoserine|NM_012414.3|protein_coding|1/34|c.115+4679dupA||||||,CT|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|1/34|c.115+4679dupA||||||,CT|non_coding_transcript_exon_variant|MODIFIER|AURKAPS1|AURKAPS1|transcript|NR_001587.1|pseudogene|1/1|n.172dupA||||||;p3_1000G_AA=TTTTTT|TTTTT|TTTTTT|deletion;p3_1000G_AC=2485;p3_1000G_AF=0.496206;p3_1000G_AFR_AF=0.7897;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=20633;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.2992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220440885;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:17,19:36:99:495,0,433
chr1	220267644	rs45626633	T	C	791.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.547;SOR=0.655;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45626633;dbSNPBuildID=127;ANN=C|sequence_feature|MODERATE|RAB3GAP2|RAB3GAP2|modified-residue:Phosphoserine|NM_012414.3|protein_coding|1/34|c.115+4579A>G||||||,C|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|1/34|c.115+4579A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|AURKAPS1|AURKAPS1|transcript|NR_001587.1|pseudogene|1/1|n.72A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=379;p3_1000G_AF=0.0756789;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=19816;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.0338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220440986;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,30:55:99:820,0,565
chr1	220272146	rs2292418	C	T	516.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.548;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.67;ReadPosRankSum=0.192;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292418;dbSNPBuildID=100;ANN=T|sequence_feature|MODERATE|RAB3GAP2|RAB3GAP2|modified-residue:Phosphoserine|NM_012414.3|protein_coding|1/34|c.115+77G>A||||||,T|upstream_gene_variant|MODIFIER|AURKAPS1|AURKAPS1|transcript|NR_001587.1|pseudogene||n.-4431G>A|||||4431|,T|intron_variant|MODIFIER|RAB3GAP2|RAB3GAP2|transcript|NM_012414.3|protein_coding|1/34|c.115+77G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=307;p3_1000G_AF=0.0613019;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=13293;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220445488;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,19:25:99:545,0,160
chr1	220615894	rs2786599	C	T	268.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.4;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2786599;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286124.1|protein_coding|6/17|c.496-45C>T||||||,T|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286126.1|protein_coding|6/16|c.496-45C>T||||||,T|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286128.1|protein_coding|5/15|c.430-45C>T||||||,T|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_018650.4|protein_coding|6/17|c.496-45C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4670;p3_1000G_AF=0.932508;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=13096;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220789236;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3421,979;ESP6500_AA_AGE=355.9+/-313.2;ESP6500_AA_GTC=1342,737,121;ESP6500_CDS_SIZES=NM_018650.3:2388;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=99;ESP6500_EA_AC=8580,6;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4287,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018650.3:intron;ESP6500_GL=MARK1;ESP6500_GRCh38_POSITION=1:220615894;ESP6500_GTC=5629,743,121;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018650.3:c.496-45C>T;ESP6500_MAF=0.0699,22.25,7.5851;ESP6500_TAC=12001,985	GT:AD:DP:GQ:PL	1/1:0,12:12:36:297,36,0
chr1	220616013	rs777601572	ATT	A	42.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.35;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs373447898;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286124.1|protein_coding|7/17|c.552+24_552+25delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286126.1|protein_coding|7/16|c.552+24_552+25delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286128.1|protein_coding|6/15|c.486+24_486+25delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_018650.4|protein_coding|7/17|c.552+24_552+25delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr1	220657687	.	G	A	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286124.1|protein_coding|16/17|c.1992-103G>A||||||,A|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286126.1|protein_coding|16/16|c.1989-4125G>A||||||,A|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_001286128.1|protein_coding|15/15|c.1923-4125G>A||||||,A|intron_variant|MODIFIER|MARK1|MARK1|transcript|NM_018650.4|protein_coding|16/17|c.1989-103G>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	220748603	rs337188	G	C	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=-0.598;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs337188;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|MARC2|MARC2|transcript|NM_001317338.1|protein_coding|1/8|c.72G>C|p.Gly24Gly|358/2229|72/1008|24/335||,C|synonymous_variant|LOW|MARC2|MARC2|transcript|NM_017898.4|protein_coding|1/8|c.72G>C|p.Gly24Gly|358/2222|72/1008|24/335||;p3_1000G_AA=G|||;p3_1000G_AC=1036;p3_1000G_AF=0.206869;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=8880;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.1501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220921945;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=207,2383;ESP6500_AA_GTC=4,199,1092;ESP6500_CDS_SIZES=NM_017898.3:1008;ESP6500_CG=2.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=3;ESP6500_EA_AC=417,5147;ESP6500_EA_GTC=10,397,2375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017898.3:coding-synonymous;ESP6500_GL=MARC2;ESP6500_GRCh38_POSITION=1:220748603;ESP6500_GTC=14,596,3467;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017898.3:c.72G>C;ESP6500_HGVS_PROTEIN_VAR=NM_017898.3:p.(G24);ESP6500_MAF=7.4946,7.9923,7.6527;ESP6500_TAC=624,7530	GT:AD:DP:GQ:PL	0/1:3,3:6:67:67,0,72
chr1	220754429	rs41314538	C	T	1060.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41314538;dbSNPBuildID=127;ANN=T|sequence_feature|LOW|MARC2|MARC2|antibody-mapping:heterologous_protein_expression_evidence|NM_017898.4|protein_coding|1/7|c.273-518C>T||||||,T|intron_variant|MODIFIER|MARC2|MARC2|transcript|NM_001317338.1|protein_coding|1/7|c.273-518C>T||||||,T|intron_variant|MODIFIER|MARC2|MARC2|transcript|NM_017898.4|protein_coding|1/7|c.273-518C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=917;p3_1000G_AF=0.183107;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=18650;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.1471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220927771;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1089,104,0
chr1	220761739	rs2275575	G	A	819.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.27;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275575;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|MARC2|MARC2|transcript|NM_001317338.1|protein_coding|3/8|c.528G>A|p.Ala176Ala|814/2229|528/1008|176/335||,A|synonymous_variant|LOW|MARC2|MARC2|transcript|NM_017898.4|protein_coding|3/8|c.528G>A|p.Ala176Ala|814/2222|528/1008|176/335||;p3_1000G_AA=G|||;p3_1000G_AC=1042;p3_1000G_AF=0.208067;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=21869;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220935081;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=740,3666;ESP6500_AA_AGE=306.3+/-289.4;ESP6500_AA_GTC=60,620,1523;ESP6500_CDS_SIZES=NM_017898.3:1008;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=112;ESP6500_EA_AC=1159,7441;ESP6500_EA_AGE=237.4+/-269.2;ESP6500_EA_GTC=91,977,3232;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017898.3:coding-synonymous;ESP6500_GL=MARC2;ESP6500_GRCh38_POSITION=1:220761739;ESP6500_GTC=151,1597,4755;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017898.3:c.528G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017898.3:p.(A176);ESP6500_MAF=13.4767,16.7953,14.601;ESP6500_TAC=1899,11107	GT:AD:DP:GQ:PL	1/1:0,29:29:87:848,87,0
chr1	220796686	rs2642438	A	G	3442.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=29.94;ReadPosRankSum=-0.799;SOR=1.282;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2642438;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|MARC1|MARC1|transcript|NM_022746.3|protein_coding|3/7|c.493A>G|p.Thr165Ala|741/2243|493/1014|165/337||;p3_1000G_AA=G|||;p3_1000G_AC=4054;p3_1000G_AF=0.809505;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=17172;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.7217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220970028;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4053,353;ESP6500_AA_AGE=180.8+/-209.0;ESP6500_AA_GTC=1868,317,18;ESP6500_CDS_SIZES=NM_022746.3:1014;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=6048,2552;ESP6500_EA_AGE=416.0+/-352.0;ESP6500_EA_GTC=2143,1762,395;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022746.3:missense;ESP6500_GL=MARC1;ESP6500_GRCh38_POSITION=1:220796686;ESP6500_GS=58;ESP6500_GTC=4011,2079,413;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022746.3:c.493A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022746.3:p.(T165A);ESP6500_MAF=29.6744,8.0118,22.3358;ESP6500_PH=benign:0.0;ESP6500_TAC=10101,2905	GT:AD:DP:GQ:PL	1/1:2,113:115:99:3471,296,0
chr1	220813174	rs12144830	C	T	678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12144830;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MARC1|MARC1|transcript|NM_022746.3|protein_coding|6/6|c.888-118C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1147;p3_1000G_AF=0.229034;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=19608;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.2932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220986516;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:707,69,0
chr1	220813204	rs17650107	G	A	748.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17650107;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|MARC1|MARC1|transcript|NM_022746.3|protein_coding|6/6|c.888-88G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1110;p3_1000G_AF=0.221645;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=19476;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.2932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220986546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:777,72,0
chr1	220880203	rs12141189	T	C	1550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=0.813;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12141189;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|HLX|HLX|transcript|NM_021958.3|protein_coding|1/4|c.346T>C|p.Ser116Pro|803/2278|346/1467|116/488||,C|upstream_gene_variant|MODIFIER|HLX-AS1|HLX-AS1|transcript|NR_046901.1|pseudogene||n.-63A>G|||||63|;p3_1000G_AA=T|||;p3_1000G_AC=1056;p3_1000G_AF=0.210863;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=10735;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=221053545;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=846,3544;ESP6500_AA_GTC=97,652,1446;ESP6500_CDS_SIZES=NM_021958.3:1467;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=16;ESP6500_EA_AC=1904,6676;ESP6500_EA_GTC=215,1474,2601;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021958.3:missense;ESP6500_GL=HLX;ESP6500_GRCh38_POSITION=1:220880203;ESP6500_GS=74;ESP6500_GTC=312,2126,4047;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021958.3:c.346T>C;ESP6500_HGVS_PROTEIN_VAR=NM_021958.3:p.(S116P);ESP6500_MAF=22.1911,19.2711,21.2028;ESP6500_PH=benign:0.048;ESP6500_TAC=2750,10220	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1579,153,0
chr1	220881419	rs17597773	C	G	1478.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.39;SOR=1.775;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17597773;dbSNPBuildID=123;ANN=G|upstream_gene_variant|MODIFIER|HLX-AS1|HLX-AS1|transcript|NR_046901.1|pseudogene||n.-1279G>C|||||1279|,G|intron_variant|MODIFIER|HLX|HLX|transcript|NM_021958.3|protein_coding|2/3|c.772+46C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1055;p3_1000G_AF=0.210663;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=16372;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=221054761;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=887,3519;ESP6500_AA_AGE=337.3+/-304.8;ESP6500_AA_GTC=99,689,1415;ESP6500_CDS_SIZES=NM_021958.3:1467;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=35;ESP6500_EA_AC=1973,6627;ESP6500_EA_AGE=342.3+/-324.4;ESP6500_EA_GTC=217,1539,2544;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021958.3:intron;ESP6500_GL=HLX;ESP6500_GRCh38_POSITION=1:220881419;ESP6500_GTC=316,2228,3959;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_021958.3:c.772+46C>G;ESP6500_MAF=22.9419,20.1316,21.9899;ESP6500_TAC=2860,10146	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1507,129,0
chr1	221739019	rs1141714	T	C	612.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.935;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.504;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.554;SOR=0.357;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1141714;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|DUSP10|DUSP10|transcript|NM_007207.5|protein_coding|2/4|c.726A>G|p.Glu242Glu|965/2680|726/1449|242/482||,C|upstream_gene_variant|MODIFIER|DUSP10|DUSP10|transcript|NR_111939.1|pseudogene||n.-2119A>G|||||2119|,C|intron_variant|MODIFIER|DUSP10|DUSP10|transcript|NR_111940.1|pseudogene|1/2|n.196+2962A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3607;p3_1000G_AF=0.720248;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=18892;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.6412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=221912361;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3611,795;ESP6500_AA_AGE=320.2+/-296.5;ESP6500_AA_GTC=1481,649,73;ESP6500_CDS_SIZES=NM_144729.2:423,NM_007207.4:1449;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=141;ESP6500_EA_AC=5603,2997;ESP6500_EA_AGE=464.3+/-366.2;ESP6500_EA_GTC=1820,1963,517;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144729.2:intron,NM_007207.4:coding-synonymous;ESP6500_GL=DUSP10;ESP6500_GRCh38_POSITION=1:221739019;ESP6500_GTC=3301,2612,590;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144729.2:c.-32768A>G,NM_007207.4:c.726A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_007207.4:p.(E242);ESP6500_MAF=34.8488,18.0436,29.1558;ESP6500_TAC=9214,3792	GT:AD:DP:GQ:PL	0/1:27,25:52:99:641,0,668
chr1	221739466	rs1136448	T	C	1138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.54;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=3.093;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=0.431;SOR=1.073;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1136448;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|DUSP10|DUSP10|transcript|NM_007207.5|protein_coding|2/4|c.279A>G|p.Gln93Gln|518/2680|279/1449|93/482||,C|upstream_gene_variant|MODIFIER|DUSP10|DUSP10|transcript|NR_111939.1|pseudogene||n.-2566A>G|||||2566|,C|intron_variant|MODIFIER|DUSP10|DUSP10|transcript|NR_111940.1|pseudogene|1/2|n.196+2515A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1719;p3_1000G_AF=0.343251;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=20999;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=221912808;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=638,3768;ESP6500_AA_AGE=274.3+/-271.8;ESP6500_AA_GTC=48,542,1613;ESP6500_CDS_SIZES=NM_144729.2:423,NM_007207.4:1449;ESP6500_CG=-4.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=80;ESP6500_EA_AC=3506,5094;ESP6500_EA_AGE=510.5+/-377.5;ESP6500_EA_GTC=684,2138,1478;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144729.2:intron,NM_007207.4:coding-synonymous;ESP6500_GL=DUSP10;ESP6500_GRCh38_POSITION=1:221739466;ESP6500_GTC=732,2680,3091;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144729.2:c.-33215A>G,NM_007207.4:c.279A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_007207.4:p.(Q93);ESP6500_MAF=40.7674,14.4803,31.8622;ESP6500_TAC=4144,8862	GT:AD:DP:GQ:PL	0/1:38,36:74:99:1167,0,1061
chr1	222523746	rs3748662	G	A	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.733;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.59;ReadPosRankSum=0.323;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748662;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|HHIPL2|HHIPL2|transcript|NM_024746.3|protein_coding|7/8|c.1806-52C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1327;p3_1000G_AF=0.264976;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=23601;p3_1000G_EAS_AF=0.3254;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222697088;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=647,2007;ESP6500_AA_GTC=81,485,761;ESP6500_CDS_SIZES=NM_024746.3:2175;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=59;ESP6500_EA_AC=1326,3292;ESP6500_EA_GTC=179,968,1162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024746.3:intron;ESP6500_GL=HHIPL2;ESP6500_GRCh38_POSITION=1:222523746;ESP6500_GTC=260,1453,1923;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024746.3:c.1806-52C>T;ESP6500_MAF=28.7137,24.3783,27.1315;ESP6500_TAC=1973,5299	GT:AD:DP:GQ:PL	0/1:15,5:20:99:120,0,394
chr1	222527074	rs1487523	C	T	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.471;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.512;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1487523;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|HHIPL2|HHIPL2|transcript|NM_024746.3|protein_coding|6/8|c.1724-24G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1598;p3_1000G_AF=0.319089;p3_1000G_AFR_AF=0.4365;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=21613;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222700416;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1808,2598;ESP6500_AA_AGE=523.8+/-371.2;ESP6500_AA_GTC=364,1080,759;ESP6500_CDS_SIZES=NM_024746.3:2175;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=63;ESP6500_EA_AC=2470,6130;ESP6500_EA_AGE=399.1+/-346.3;ESP6500_EA_GTC=354,1762,2184;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024746.3:intron;ESP6500_GL=HHIPL2;ESP6500_GRCh38_POSITION=1:222527074;ESP6500_GTC=718,2842,2943;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024746.3:c.1724-24G>A;ESP6500_MAF=28.7209,41.035,32.8925;ESP6500_TAC=4278,8728	GT:AD:DP:GQ:PL	0/1:15,5:20:99:99,0,441
chr1	222531928	rs4846373	T	C	713.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4846373;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|HHIPL2|HHIPL2|transcript|NM_024746.3|protein_coding|6/8|c.1723+38A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2757;p3_1000G_AF=0.550519;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=16179;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.3569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222705270;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3045,1361;ESP6500_AA_AGE=450.8+/-349.5;ESP6500_AA_GTC=1049,947,207;ESP6500_CDS_SIZES=NM_024746.3:2175;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=51;ESP6500_EA_AC=3253,5347;ESP6500_EA_AGE=648.7+/-400.5;ESP6500_EA_GTC=624,2005,1671;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024746.3:intron;ESP6500_GL=HHIPL2;ESP6500_GRCh38_POSITION=1:222531928;ESP6500_GTC=1673,2952,1878;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024746.3:c.1723+38A>G;ESP6500_MAF=37.8256,30.8897,48.4238;ESP6500_TAC=6298,6708	GT:AD:DP:GQ:PL	1/1:0,21:21:63:742,63,0
chr1	222532204	rs17163175	G	A	160.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17163175;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|HHIPL2|HHIPL2|transcript|NM_024746.3|protein_coding|5/8|c.1578-93C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2590;p3_1000G_AF=0.517173;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=20003;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.3569;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222705546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:189,15,0
chr1	222540161	rs3748664	C	G	2541.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.77;SOR=0.908;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748664;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|HHIPL2|HHIPL2|transcript|NM_024746.3|protein_coding|4/9|c.1299G>C|p.Thr433Thr|1357/2574|1299/2175|433/724||;p3_1000G_AA=C|||;p3_1000G_AC=1881;p3_1000G_AF=0.375599;p3_1000G_AFR_AF=0.3434;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=17111;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.2604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222713503;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1446,2960;ESP6500_AA_AGE=466.2+/-354.4;ESP6500_AA_GTC=222,1002,979;ESP6500_CDS_SIZES=NM_024746.3:2175;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=70;ESP6500_EA_AC=2505,6095;ESP6500_EA_AGE=408.3+/-349.4;ESP6500_EA_GTC=366,1773,2161;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024746.3:coding-synonymous;ESP6500_GL=HHIPL2;ESP6500_GRCh38_POSITION=1:222540161;ESP6500_GTC=588,2775,3140;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024746.3:c.1299G>C;ESP6500_HGVS_PROTEIN_VAR=NM_024746.3:p.(T433);ESP6500_MAF=29.1279,32.8189,30.3783;ESP6500_TAC=3951,9055	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2570,240,0
chr1	222540289	rs3748666	G	C	813.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.91;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748666;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|HHIPL2|HHIPL2|transcript|NM_024746.3|protein_coding|4/9|c.1171C>G|p.His391Asp|1229/2574|1171/2175|391/724||;p3_1000G_AA=C|||;p3_1000G_AC=1881;p3_1000G_AF=0.375599;p3_1000G_AFR_AF=0.3434;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=17707;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.2604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222713631;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1448,2958;ESP6500_AA_AGE=681.8+/-404.0;ESP6500_AA_GTC=222,1004,977;ESP6500_CDS_SIZES=NM_024746.3:2175;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=2505,6095;ESP6500_EA_AGE=694.4+/-404.7;ESP6500_EA_GTC=365,1775,2160;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024746.3:missense;ESP6500_GL=HHIPL2;ESP6500_GRCh38_POSITION=1:222540289;ESP6500_GS=81;ESP6500_GTC=587,2779,3137;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_024746.3:c.1171C>G;ESP6500_HGVS_PROTEIN_VAR=NM_024746.3:p.(H391D);ESP6500_MAF=29.1279,32.8643,30.3937;ESP6500_PH=benign:0.0;ESP6500_TAC=3953,9053	GT:AD:DP:GQ:PL	1/1:0,24:24:72:842,72,0
chr1	222543790	rs3811466	C	T	1185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.699;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.802;SOR=0.621;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811466;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|HHIPL2|HHIPL2|transcript|NM_024746.3|protein_coding|2/9|c.721G>A|p.Val241Met|779/2574|721/2175|241/724||;p3_1000G_AA=C|||;p3_1000G_AC=493;p3_1000G_AF=0.0984425;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=17314;p3_1000G_EAS_AF=0.2669;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222717132;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=21,4385;ESP6500_AA_AGE=29.0+/-57.7;ESP6500_AA_GTC=0,21,2182;ESP6500_CDS_SIZES=NM_024746.3:2175;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=76;ESP6500_EA_AC=33,8567;ESP6500_EA_AGE=22.8+/-68.1;ESP6500_EA_GTC=0,33,4267;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024746.3:missense;ESP6500_GL=HHIPL2;ESP6500_GRCh38_POSITION=1:222543790;ESP6500_GS=21;ESP6500_GTC=0,54,6449;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024746.3:c.721G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024746.3:p.(V241M);ESP6500_MAF=0.3837,0.4766,0.4152;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=54,12952	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1214,0,1647
chr1	222547946	rs4846382	C	T	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.709;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.916;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4846382;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|HHIPL2|HHIPL2|transcript|NM_024746.3|protein_coding|1/9|c.99G>A|p.Leu33Leu|157/2574|99/2175|33/724||;p3_1000G_AA=C|||;p3_1000G_AC=2914;p3_1000G_AF=0.581869;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=16120;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.6044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222721288;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7669;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1464,2374;ESP6500_AA_GTC=291,882,746;ESP6500_CDS_SIZES=NM_024746.3:2175;ESP6500_CG=1.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=42;ESP6500_EA_AC=5085,3161;ESP6500_EA_GTC=1574,1937,612;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024746.3:coding-synonymous;ESP6500_GL=HHIPL2;ESP6500_GRCh38_POSITION=1:222547946;ESP6500_GTC=1865,2819,1358;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024746.3:c.99G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024746.3:p.(L33);ESP6500_MAF=38.3337,38.1449,45.8044;ESP6500_TAC=6549,5535	GT:AD:DP:GQ:PL	0/1:12,11:23:99:290,0,332
chr1	222561461	rs1134898	G	C	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.52;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.19;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1134898;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|TAF1A|TAF1A|transcript|NM_001201536.1|protein_coding|10/12|c.1143C>G|p.Gly381Gly|1352/1966|1143/1353|381/450||,C|synonymous_variant|LOW|TAF1A|TAF1A|transcript|NM_139352.2|protein_coding|9/11|c.801C>G|p.Gly267Gly|1182/1796|801/1011|267/336||,C|synonymous_variant|LOW|TAF1A|TAF1A|transcript|NM_005681.3|protein_coding|10/11|c.1143C>G|p.Gly381Gly|1352/1914|1143/1353|381/450||;p3_1000G_AA=G|||;p3_1000G_AC=1565;p3_1000G_AF=0.3125;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=19439;p3_1000G_EAS_AF=0.3671;p3_1000G_EUR_AF=0.5119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222734803;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=458,3948;ESP6500_AA_AGE=216.1+/-234.9;ESP6500_AA_GTC=29,400,1774;ESP6500_CDS_SIZES=NM_139352.2:1011,NM_005681.3:1353,NM_001201536.1:1353;ESP6500_CG=1.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=85;ESP6500_EA_AC=4170,4430;ESP6500_EA_AGE=566.0+/-388.6;ESP6500_EA_GTC=1027,2116,1157;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139352.2:coding-synonymous,NM_005681.3:coding-synonymous,NM_001201536.1:coding-synonymous;ESP6500_GL=TAF1A;ESP6500_GRCh38_POSITION=1:222561461;ESP6500_GTC=1056,2516,2931;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_139352.2:c.801C>G,NM_005681.3:c.1143C>G,NM_001201536.1:c.1143C>G;ESP6500_HGVS_PROTEIN_VAR=NM_139352.2:p.(G267),NM_005681.3:p.(G381),NM_001201536.1:p.(G381);ESP6500_MAF=48.4884,10.3949,35.5836;ESP6500_TAC=4628,8378	GT:AD:DP:GQ:PL	0/1:17,20:37:99:523,0,435
chr1	222563063	rs11485179	A	G	240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.08;ReadPosRankSum=-0.385;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11485179;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_001201536.1|protein_coding|9/11|c.1085+110T>C||||||,G|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_139352.2|protein_coding|8/10|c.743+110T>C||||||,G|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_005681.3|protein_coding|9/10|c.1085+110T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1571;p3_1000G_AF=0.313698;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=17820;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222736405;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:95:269,0,95
chr1	222563156	rs11485180	C	T	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.202;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.762;SOR=0.745;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11485180;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_001201536.1|protein_coding|9/11|c.1085+17G>A||||||,T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_139352.2|protein_coding|8/10|c.743+17G>A||||||,T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_005681.3|protein_coding|9/10|c.1085+17G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1007;p3_1000G_AF=0.201078;p3_1000G_AFR_AF=0.4365;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=16793;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.1382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222736498;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1750,2654;ESP6500_AA_AGE=618.4+/-393.2;ESP6500_AA_GTC=368,1014,820;ESP6500_CDS_SIZES=NM_139352.2:1011,NM_005681.3:1353,NM_001201536.1:1353;ESP6500_CG=-11.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=60;ESP6500_EA_AC=1142,7440;ESP6500_EA_AGE=756.3+/-407.5;ESP6500_EA_GTC=77,988,3226;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139352.2:intron,NM_005681.3:intron,NM_001201536.1:intron;ESP6500_GL=TAF1A;ESP6500_GRCh38_POSITION=1:222563156;ESP6500_GTC=445,2002,4046;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_139352.2:c.743+17G>A,NM_005681.3:c.1085+17G>A,NM_001201536.1:c.1085+17G>A;ESP6500_MAF=13.3069,39.7366,22.2701;ESP6500_TAC=2892,10094	GT:AD:DP:GQ:PL	0/1:18,14:32:99:326,0,436
chr1	222563923	rs35877231	G	T	353.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35877231;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_001201536.1|protein_coding|8/11|c.961+136C>A||||||,T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_139352.2|protein_coding|7/10|c.619+136C>A||||||,T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_005681.3|protein_coding|8/10|c.961+136C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16297;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222737265;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:382,33,0
chr1	222564226	rs3008640	C	T	83.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3008640;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_001201536.1|protein_coding|7/11|c.895-101G>A||||||,T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_139352.2|protein_coding|6/10|c.553-101G>A||||||,T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_005681.3|protein_coding|7/10|c.895-101G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=14770;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222737568;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:111,9,0
chr1	222577402	rs3008644	C	T	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.15;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.344;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3008644;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_001201536.1|protein_coding|5/11|c.604+43G>A||||||,T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_139352.2|protein_coding|4/10|c.262+43G>A||||||,T|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_005681.3|protein_coding|5/10|c.604+43G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=455;p3_1000G_AF=0.0908546;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=16743;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222750744;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=273,4131;ESP6500_AA_AGE=140.4+/-175.9;ESP6500_AA_GTC=4,265,1933;ESP6500_CDS_SIZES=NM_139352.2:1011,NM_005681.3:1353,NM_001201536.1:1353;ESP6500_CG=0.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=43;ESP6500_EA_AC=1116,7484;ESP6500_EA_AGE=216.0+/-255.2;ESP6500_EA_GTC=71,974,3255;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139352.2:intron,NM_005681.3:intron,NM_001201536.1:intron;ESP6500_GL=TAF1A;ESP6500_GRCh38_POSITION=1:222577402;ESP6500_GTC=75,1239,5188;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_139352.2:c.262+43G>A,NM_005681.3:c.604+43G>A,NM_001201536.1:c.604+43G>A;ESP6500_MAF=12.9767,6.1989,10.6813;ESP6500_TAC=1389,11615	GT:AD:DP:GQ:PL	0/1:7,10:17:99:285,0,145
chr1	222577692	rs2936033	T	C	441.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.59;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2936033;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_001201536.1|protein_coding|4/11|c.406-49A>G||||||,C|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_139352.2|protein_coding|3/10|c.64-49A>G||||||,C|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_005681.3|protein_coding|4/10|c.406-49A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2734;p3_1000G_AF=0.545927;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=18921;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222751034;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1876,2524;ESP6500_AA_GTC=424,1028,748;ESP6500_CDS_SIZES=NM_139352.2:1011,NM_005681.3:1353,NM_001201536.1:1353;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=36;ESP6500_EA_AC=6059,2541;ESP6500_EA_GTC=2147,1765,388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139352.2:intron,NM_005681.3:intron,NM_001201536.1:intron;ESP6500_GL=TAF1A;ESP6500_GRCh38_POSITION=1:222577692;ESP6500_GTC=2571,2793,1136;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_139352.2:c.64-49A>G,NM_005681.3:c.406-49A>G,NM_001201536.1:c.406-49A>G;ESP6500_MAF=29.5465,42.6364,38.9615;ESP6500_TAC=7935,5065	GT:AD:DP:GQ:PL	1/1:0,12:12:36:470,36,0
chr1	222588307	rs4525045	C	A	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.842;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4525045;dbSNPBuildID=111;ANN=A|upstream_gene_variant|MODIFIER|TAF1A-AS1|TAF1A-AS1|transcript|NR_110614.1|pseudogene||n.-1652C>A|||||1652|,A|upstream_gene_variant|MODIFIER|TAF1A-AS1|TAF1A-AS1|transcript|NR_110613.1|pseudogene||n.-1613C>A|||||1613|,A|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_001201536.1|protein_coding|2/11|c.121+136G>T||||||,A|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_139352.2|protein_coding|2/10|c.-52+136G>T||||||,A|intron_variant|MODIFIER|TAF1A|TAF1A|transcript|NM_005681.3|protein_coding|2/10|c.121+136G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3451;p3_1000G_AF=0.689097;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=16946;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222761649;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:68:95,0,68
chr1	222624764	rs3008617	G	A	629.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.38;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3008617;dbSNPBuildID=101;ANN=A|splice_region_variant&intron_variant|LOW|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|2/28|c.268-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|2/25|c.268-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|3/28|c.-225-4G>A||||||,A|splice_region_variant&intron_variant|LOW|MIA3|MIA3|transcript|NM_198551.3|protein_coding|2/27|c.268-4G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17421;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222798106;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3638,46;ESP6500_AA_GTC=1796,46,0;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=1.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=99;ESP6500_EA_AC=8170,0;ESP6500_EA_GTC=4085,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198551.2:intron;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222624764;ESP6500_GTC=5881,46,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.268-4G>A;ESP6500_MAF=0.0,1.2486,0.3881;ESP6500_TAC=11808,46	GT:AD:DP:GQ:PL	1/1:0,23:23:69:658,69,0
chr1	222628664	rs2936053	A	G	1465.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=0.929;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2936053;dbSNPBuildID=101;ANN=G|missense_variant|MODERATE|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|4/29|c.1444A>G|p.Lys482Glu|1453/8198|1444/5796|482/1931||,G|missense_variant|MODERATE|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|4/26|c.1444A>G|p.Lys482Glu|1453/7949|1444/5547|482/1848||,G|missense_variant|MODERATE|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|5/29|c.952A>G|p.Lys318Glu|1498/8171|952/5232|318/1743||,G|missense_variant|MODERATE|MIA3|MIA3|transcript|NM_198551.3|protein_coding|4/28|c.1444A>G|p.Lys482Glu|1453/8126|1444/5724|482/1907||;p3_1000G_AA=G|||;p3_1000G_AC=4986;p3_1000G_AF=0.995607;p3_1000G_AFR_AF=0.9834;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20984;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222802006;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3741,87;ESP6500_AA_GTC=1828,85,1;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=101;ESP6500_EA_AC=8211,1;ESP6500_EA_GTC=4105,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198551.2:missense;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222628664;ESP6500_GS=56;ESP6500_GTC=5933,86,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.1444A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198551.2:p.(K482E);ESP6500_MAF=0.0122,2.2727,0.7309;ESP6500_PH=benign:0.0;ESP6500_TAC=11952,88	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1494,135,0
chr1	222629461	rs3748626	T	G	1188.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748626;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|4/29|c.2241T>G|p.Pro747Pro|2250/8198|2241/5796|747/1931||,G|synonymous_variant|LOW|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|4/26|c.2241T>G|p.Pro747Pro|2250/7949|2241/5547|747/1848||,G|synonymous_variant|LOW|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|5/29|c.1749T>G|p.Pro583Pro|2295/8171|1749/5232|583/1743||,G|synonymous_variant|LOW|MIA3|MIA3|transcript|NM_198551.3|protein_coding|4/28|c.2241T>G|p.Pro747Pro|2250/8126|2241/5724|747/1907||;p3_1000G_AA=T|||;p3_1000G_AC=2541;p3_1000G_AF=0.507388;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=19931;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.7296;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222802803;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1156,2516;ESP6500_AA_GTC=182,792,862;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=66;ESP6500_EA_AC=5769,2393;ESP6500_EA_GTC=2060,1649,372;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198551.2:coding-synonymous;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222629461;ESP6500_GTC=2242,2441,1234;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.2241T>G;ESP6500_HGVS_PROTEIN_VAR=NM_198551.2:p.(P747);ESP6500_MAF=29.3188,31.4815,41.4822;ESP6500_TAC=6925,4909	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1217,105,0
chr1	222629584	rs3008620	C	T	1175.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3008620;dbSNPBuildID=101;ANN=T|synonymous_variant|LOW|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|4/29|c.2364C>T|p.Ser788Ser|2373/8198|2364/5796|788/1931||,T|synonymous_variant|LOW|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|4/26|c.2364C>T|p.Ser788Ser|2373/7949|2364/5547|788/1848||,T|synonymous_variant|LOW|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|5/29|c.1872C>T|p.Ser624Ser|2418/8171|1872/5232|624/1743||,T|synonymous_variant|LOW|MIA3|MIA3|transcript|NM_198551.3|protein_coding|4/28|c.2364C>T|p.Ser788Ser|2373/8126|2364/5724|788/1907||;p3_1000G_AA=T|||;p3_1000G_AC=4009;p3_1000G_AF=0.800519;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=18862;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.8976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222802926;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2294,1442;ESP6500_AA_GTC=698,898,272;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=61;ESP6500_EA_AC=7267,949;ESP6500_EA_GTC=3221,825,62;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198551.2:coding-synonymous;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222629584;ESP6500_GTC=3919,1723,334;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.2364C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198551.2:p.(S788);ESP6500_MAF=11.5506,38.5974,20.005;ESP6500_TAC=9561,2391	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1204,111,0
chr1	222629862	rs2936051	A	G	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.42;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.376;SOR=0.448;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2936051;dbSNPBuildID=101;ANN=G|missense_variant|MODERATE|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|4/29|c.2642A>G|p.Glu881Gly|2651/8198|2642/5796|881/1931||,G|missense_variant|MODERATE|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|4/26|c.2642A>G|p.Glu881Gly|2651/7949|2642/5547|881/1848||,G|missense_variant|MODERATE|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|5/29|c.2150A>G|p.Glu717Gly|2696/8171|2150/5232|717/1743||,G|missense_variant|MODERATE|MIA3|MIA3|transcript|NM_198551.3|protein_coding|4/28|c.2642A>G|p.Glu881Gly|2651/8126|2642/5724|881/1907||;p3_1000G_AA=a|||;p3_1000G_AC=1609;p3_1000G_AF=0.321286;p3_1000G_AFR_AF=0.3374;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=19303;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.168;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222803204;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP;ESP6500_AA_AC=1144,2716;ESP6500_AA_GTC=158,828,944;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=35;ESP6500_EA_AC=1457,6799;ESP6500_EA_GTC=136,1185,2807;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198551.2:missense;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222629862;ESP6500_GS=98;ESP6500_GTC=294,2013,3751;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.2642A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198551.2:p.(E881G);ESP6500_MAF=17.6478,29.6373,21.4675;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=2601,9515	GT:AD:DP:GQ:PL	0/1:19,18:37:99:571,0,493
chr1	222650187	rs17465637	A	C	310.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.53;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17465637;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|8/28|c.3632-105A>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|8/25|c.3632-105A>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|9/28|c.3140-105A>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_198551.3|protein_coding|8/27|c.3632-105A>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001300867.1|protein_coding|3/22|c.266-105A>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324065.1|protein_coding|3/23|c.266-105A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2523;p3_1000G_AF=0.503794;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=18898;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222823529;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:339,27,0
chr1	222650401	rs67180937	T	G	713.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs67180937;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|9/28|c.3720+21T>G||||||,G|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|9/25|c.3720+21T>G||||||,G|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|10/28|c.3228+21T>G||||||,G|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_198551.3|protein_coding|9/27|c.3720+21T>G||||||,G|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001300867.1|protein_coding|4/22|c.354+21T>G||||||,G|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324065.1|protein_coding|4/23|c.354+21T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2469;p3_1000G_AF=0.493011;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=15157;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222823743;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1059,2507;ESP6500_AA_GTC=195,669,919;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=23;ESP6500_EA_AC=5846,2248;ESP6500_EA_GTC=2154,1538,355;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198551.2:intron;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222650401;ESP6500_GTC=2349,2207,1274;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.3720+21T>G;ESP6500_MAF=27.7737,29.6971,40.7804;ESP6500_TAC=6905,4755	GT:AD:DP:GQ:PL	1/1:0,23:23:69:742,69,0
chr1	222652061	rs3002150	G	A	973.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.64;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3002150;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|12/28|c.3981+13G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|11/25|c.3910-947G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|13/28|c.3489+13G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_198551.3|protein_coding|12/27|c.3981+13G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001300867.1|protein_coding|7/22|c.615+13G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324065.1|protein_coding|7/23|c.615+13G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4670;p3_1000G_AF=0.932508;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18769;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.9771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222825403;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3350,242;ESP6500_AA_GTC=1560,230,6;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=54;ESP6500_EA_AC=7895,253;ESP6500_EA_GTC=3824,247,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198551.2:intron;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222652061;ESP6500_GTC=5384,477,9;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.3981+13G>A;ESP6500_MAF=3.1051,6.7372,4.2164;ESP6500_TAC=11245,495	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1002,102,0
chr1	222652375	rs10495198	T	C	546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10495198;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|13/28|c.4086+43T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|11/25|c.3910-633T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|14/28|c.3594+43T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_198551.3|protein_coding|13/27|c.4086+43T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001300867.1|protein_coding|8/22|c.720+43T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324065.1|protein_coding|8/23|c.720+43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2523;p3_1000G_AF=0.503794;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=20161;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222825717;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1038,2698;ESP6500_AA_GTC=149,740,979;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=73;ESP6500_EA_AC=5891,2321;ESP6500_EA_GTC=2133,1625,348;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198551.2:intron;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222652375;ESP6500_GTC=2282,2365,1327;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.4086+43T>C;ESP6500_MAF=28.2635,27.7837,42.007;ESP6500_TAC=6929,5019	GT:AD:DP:GQ:PL	1/1:0,16:16:48:575,48,0
chr1	222652419	rs2936019	G	A	367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2936019;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|13/28|c.4086+87G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|11/25|c.3910-589G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|14/28|c.3594+87G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_198551.3|protein_coding|13/27|c.4086+87G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001300867.1|protein_coding|8/22|c.720+87G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324065.1|protein_coding|8/23|c.720+87G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4670;p3_1000G_AF=0.932508;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=19818;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.9771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222825761;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:396,30,0
chr1	222653139	rs2291832	G	A	1887.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.95;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291832;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|14/28|c.4209+9G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|12/25|c.4032+9G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|15/28|c.3717+9G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_198551.3|protein_coding|14/27|c.4209+9G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001300867.1|protein_coding|9/22|c.843+9G>A||||||,A|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324065.1|protein_coding|9/23|c.843+9G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=23142;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222826481;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=949,2741;ESP6500_AA_GTC=130,689,1026;ESP6500_CDS_SIZES=NM_198551.2:5724;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=105;ESP6500_EA_AC=5863,2311;ESP6500_EA_GTC=2121,1621,345;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198551.2:intron;ESP6500_GL=MIA3;ESP6500_GRCh38_POSITION=1:222653139;ESP6500_GTC=2251,2310,1371;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198551.2:c.4209+9G>A;ESP6500_MAF=28.2726,25.7182,42.5826;ESP6500_TAC=6812,5052	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1916,183,0
chr1	222658953	rs2291834	T	C	394.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.67;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291834;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|19/28|c.4709+130T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|17/25|c.4532+130T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|20/28|c.4217+130T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_198551.3|protein_coding|19/27|c.4709+130T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001300867.1|protein_coding|14/22|c.1343+130T>C||||||,C|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324065.1|protein_coding|14/23|c.1343+130T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2469;p3_1000G_AF=0.493011;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=18921;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.7386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222832295;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:423,33,0
chr1	222664874	rs2936026	C	T	1119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=1.418;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2936026;dbSNPBuildID=101;ANN=T|downstream_gene_variant|MODIFIER|AIDA|AIDA|transcript|NM_022831.2|protein_coding||c.*5019G>A|||||3139|,T|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324062.1|protein_coding|28/28|c.5486-435C>T||||||,T|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324063.1|protein_coding|25/25|c.5237-435C>T||||||,T|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324064.1|protein_coding|28/28|c.4922-435C>T||||||,T|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_198551.3|protein_coding|27/27|c.5414-435C>T||||||,T|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001300867.1|protein_coding|22/22|c.2048-435C>T||||||,T|intron_variant|MODIFIER|MIA3|MIA3|transcript|NM_001324065.1|protein_coding|23/23|c.2120-435C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4668;p3_1000G_AF=0.932109;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=19262;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.9771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222838216;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1148,102,0
chr1	222673540	rs12138316	G	A	263.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12138316;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|AIDA|AIDA|transcript|NM_022831.2|protein_coding|7/9|c.584-105C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=16511;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.7425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222846882;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:292,24,0
chr1	222746406	rs2378606	G	A	717.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2378606;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|FAM177B|FAM177B|transcript|NM_001324080.1|protein_coding|1/4|c.-15-125G>A||||||,A|intron_variant|MODIFIER|FAM177B|FAM177B|transcript|NM_207468.2|protein_coding|2/5|c.-15-125G>A||||||,A|intron_variant|MODIFIER|FAM177B|FAM177B|transcript|NR_136691.1|pseudogene|2/5|n.252-125G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3932;p3_1000G_AF=0.785144;p3_1000G_AFR_AF=0.7307;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=19153;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.826;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222919748;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:746,66,0
chr1	222746553	rs2378607	T	G	2362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.5;SOR=0.955;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2378607;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|FAM177B|FAM177B|transcript|NM_001324080.1|protein_coding|2/5|c.8T>G|p.Ile3Ser|172/1388|8/477|3/158||,G|missense_variant|MODERATE|FAM177B|FAM177B|transcript|NM_207468.2|protein_coding|3/6|c.8T>G|p.Ile3Ser|274/1345|8/477|3/158||,G|non_coding_transcript_exon_variant|MODIFIER|FAM177B|FAM177B|transcript|NR_136691.1|pseudogene|3/6|n.274T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2951;p3_1000G_AF=0.589257;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=19808;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.6998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222919895;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1306,3100;ESP6500_AA_AGE=439.4+/-345.7;ESP6500_AA_GTC=216,874,1113;ESP6500_CDS_SIZES=NM_207468.2:477;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=71;ESP6500_EA_AC=5820,2780;ESP6500_EA_AGE=676.7+/-403.3;ESP6500_EA_GTC=1987,1846,467;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207468.2:missense;ESP6500_GL=FAM177B;ESP6500_GRCh38_POSITION=1:222746553;ESP6500_GS=142;ESP6500_GTC=2203,2720,1580;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_207468.2:c.8T>G;ESP6500_HGVS_PROTEIN_VAR=NM_207468.2:p.(I3S);ESP6500_MAF=32.3256,29.6414,45.2099;ESP6500_PH=benign:0.006;ESP6500_TAC=7126,5880	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2391,225,0
chr1	222749659	rs2068814	A	G	453.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2068814;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|FAM177B|FAM177B|transcript|NM_001324080.1|protein_coding|4/4|c.339+97A>G||||||,G|intron_variant|MODIFIER|FAM177B|FAM177B|transcript|NM_207468.2|protein_coding|5/5|c.339+97A>G||||||,G|intron_variant|MODIFIER|FAM177B|FAM177B|transcript|NR_136691.1|pseudogene|5/5|n.1109+97A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2946;p3_1000G_AF=0.588259;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=18350;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222923001;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:482,39,0
chr1	222750009	rs6683071	A	G	1227.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=0.746;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6683071;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|FAM177B|FAM177B|transcript|NM_001324080.1|protein_coding|5/5|c.428A>G|p.Gln143Arg|592/1388|428/477|143/158||,G|missense_variant|MODERATE|FAM177B|FAM177B|transcript|NM_207468.2|protein_coding|6/6|c.428A>G|p.Gln143Arg|694/1345|428/477|143/158||,G|non_coding_transcript_exon_variant|MODIFIER|FAM177B|FAM177B|transcript|NR_136691.1|pseudogene|6/6|n.1198A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3964;p3_1000G_AF=0.791534;p3_1000G_AFR_AF=0.7481;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=18920;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.826;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222923351;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3039,923;ESP6500_AA_GTC=1167,705,109;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...19734545;ESP6500_CDS_SIZES=NM_207468.2:477;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=89;ESP6500_EA_AC=6775,1587;ESP6500_EA_GTC=2758,1259,164;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207468.2:missense;ESP6500_GL=FAM177B;ESP6500_GRCh38_POSITION=1:222750009;ESP6500_GS=43;ESP6500_GTC=3925,1964,273;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...19734545;ESP6500_HGVS_CDNA_VAR=NM_207468.2:c.428A>G;ESP6500_HGVS_PROTEIN_VAR=NM_207468.2:p.(Q143R);ESP6500_MAF=18.9787,23.2963,20.3668;ESP6500_PH=benign:0.0;ESP6500_TAC=9814,2510	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1256,111,0
chr1	222943130	rs2609383;262129	G	A	2555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.231;ClippingRankSum=0;DP=136;ExcessHet=3.0103;FS=4.032;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.79;ReadPosRankSum=0.109;SOR=1.029;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2609383;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|DISP1|DISP1|transcript|NM_032890.3|protein_coding|4/10|c.307G>A|p.Glu103Lys|633/4924|307/4575|103/1524||;p3_1000G_AA=G|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=23581;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.1352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223116472;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=738,3668;ESP6500_AA_AGE=304.1+/-288.3;ESP6500_AA_GTC=59,620,1524;ESP6500_CDS_SIZES=NM_032890.3:4575;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=126;ESP6500_EA_AC=1176,7424;ESP6500_EA_AGE=239.7+/-270.7;ESP6500_EA_GTC=86,1004,3210;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032890.3:missense;ESP6500_GL=DISP1;ESP6500_GRCh38_POSITION=1:222943130;ESP6500_GS=56;ESP6500_GTC=145,1624,4734;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032890.3:c.307G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032890.3:p.(E103K);ESP6500_MAF=13.6744,16.7499,14.7163;ESP6500_PH=benign:0.226;ESP6500_TAC=1914,11092;CLINVAR_AF_ESP=0.1472;CLINVAR_AF_EXAC=0.17852;CLINVAR_AF_TGP=0.2117;CLINVAR_ALLELEID=249733;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.222943130G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:77451|UniProtKB_(protein):Q96F81#VAR_037077;CLINVAR_GENEINFO=DISP1:84976;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2609383	GT:AD:DP:GQ:PGT:PID:PL	0/1:69,67:136:99:0|1:222943130_G_A:2584,0,4127
chr1	222943132	rs2789975;262130	G	T	2555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.86;ClippingRankSum=0;DP=136;ExcessHet=3.0103;FS=4.032;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.79;ReadPosRankSum=-0.041;SOR=1.029;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2789975;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|DISP1|DISP1|transcript|NM_032890.3|protein_coding|4/10|c.309G>T|p.Glu103Asp|635/4924|309/4575|103/1524||;p3_1000G_AA=G|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=23499;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.1352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223116474;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=738,3668;ESP6500_AA_AGE=304.1+/-288.3;ESP6500_AA_GTC=59,620,1524;ESP6500_CDS_SIZES=NM_032890.3:4575;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=127;ESP6500_EA_AC=1176,7424;ESP6500_EA_AGE=239.7+/-270.7;ESP6500_EA_GTC=86,1004,3210;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032890.3:missense;ESP6500_GL=DISP1;ESP6500_GRCh38_POSITION=1:222943132;ESP6500_GS=45;ESP6500_GTC=145,1624,4734;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_032890.3:c.309G>T;ESP6500_HGVS_PROTEIN_VAR=NM_032890.3:p.(E103D);ESP6500_MAF=13.6744,16.7499,14.7163;ESP6500_PH=benign:0.094;ESP6500_TAC=1914,11092;CLINVAR_AF_ESP=0.1472;CLINVAR_AF_EXAC=0.17853;CLINVAR_AF_TGP=0.2117;CLINVAR_ALLELEID=249734;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.222943132G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:77450;CLINVAR_GENEINFO=DISP1:84976;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2789975	GT:AD:DP:GQ:PGT:PID:PL	0/1:69,67:136:99:0|1:222943130_G_A:2584,0,4127
chr1	222983040	rs2926159	C	T	424.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.32;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2926159;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|DISP1|DISP1|transcript|NM_032890.3|protein_coding|4/9|c.510-40C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17746;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223156382;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4404,2;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=2201,2,0;ESP6500_CDS_SIZES=NM_032890.3:4575;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=105;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032890.3:intron;ESP6500_GL=DISP1;ESP6500_GRCh38_POSITION=1:222983040;ESP6500_GTC=6501,2,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032890.3:c.510-40C>T;ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_TAC=13004,2	GT:AD:DP:GQ:PL	1/1:0,15:15:45:453,45,0
chr1	223005219	rs9441941;262131	A	C	5635.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=174;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=1.096;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9441941;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|DISP1|DISP1|transcript|NM_032890.3|protein_coding|10/10|c.3822A>C|p.Pro1274Pro|4148/4924|3822/4575|1274/1524||;p3_1000G_AA=A|||;p3_1000G_AC=2494;p3_1000G_AF=0.498003;p3_1000G_AFR_AF=0.4153;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=19766;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.6163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223178561;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1997,2409;ESP6500_AA_AGE=559.2+/-380.2;ESP6500_AA_GTC=412,1173,618;ESP6500_CDS_SIZES=NM_032890.3:4575;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=131;ESP6500_EA_AC=4960,3640;ESP6500_EA_AGE=624.2+/-397.5;ESP6500_EA_GTC=1419,2122,759;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032890.3:coding-synonymous;ESP6500_GL=DISP1;ESP6500_GRCh38_POSITION=1:223005219;ESP6500_GTC=1831,3295,1377;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_032890.3:c.3822A>C;ESP6500_HGVS_PROTEIN_VAR=NM_032890.3:p.(P1274);ESP6500_MAF=42.3256,45.3246,46.5093;ESP6500_TAC=6957,6049;CLINVAR_AF_TGP=0.4980;CLINVAR_ALLELEID=249737;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.223005219A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DISP1:84976;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9441941	GT:AD:DP:GQ:PL	1/1:0,174:174:99:5664,522,0
chr1	223111257	rs2072493;6659	T	C	1593.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=0.866;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2072493;dbSNPBuildID=96;ANN=C|missense_variant|MODERATE|TLR5|TLR5|transcript|NM_003268.5|protein_coding|6/6|c.1775A>G|p.Asn592Ser|2416/4267|1775/2577|592/858||;p3_1000G_AA=T|||;p3_1000G_AC=702;p3_1000G_AF=0.140176;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=21205;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.162;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223284599;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=144,4262;ESP6500_AA_AGE=102.1+/-140.7;ESP6500_AA_GTC=1,142,2060;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...7100&amp%3Brs...2072493|http://www.ncbi.nlm.nih.gov/omim/603031,608556|http://omim.org/entry/603031#0002;ESP6500_CDS_SIZES=NM_003268.5:2577;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=79;ESP6500_EA_AC=1373,7227;ESP6500_EA_AGE=265.4+/-286.1;ESP6500_EA_GTC=112,1149,3039;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003268.5:missense;ESP6500_GL=TLR5;ESP6500_GRCh38_POSITION=1:223111257;ESP6500_GS=46;ESP6500_GTC=113,1291,5099;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003268.5:c.1775A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003268.5:p.(N592S);ESP6500_MAF=15.9651,3.2683,11.6638;ESP6500_PH=benign:0.0;ESP6500_TAC=1517,11489;CLINVAR_AF_ESP=0.1166;CLINVAR_AF_EXAC=0.14872;CLINVAR_AF_TGP=0.1402;CLINVAR_ALLELEID=21698;CLINVAR_CLNDISDB=MedGen:C1837872,OMIM:608556;CLINVAR_CLNDN=Legionellosis;CLINVAR_CLNHGVS=NC_000001.11:g.223111257T>C;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=risk_factor;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:603031.0002;CLINVAR_GENEINFO=TLR5:7100;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2072493	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1622,144,0
chr1	223220886	rs3768284	T	C	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.906;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.14;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768284;dbSNPBuildID=107;ANN=C|3_prime_UTR_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_017982.3|protein_coding|9/9|c.*1306A>G|||||1306|;p3_1000G_AA=T|||;p3_1000G_AC=250;p3_1000G_AF=0.0499201;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=21702;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223394228;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,12:25:99:338,0,345
chr1	223223496	rs76683056	G	T	795.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.969;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=2.175;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.842;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76683056;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|SUSD4|SUSD4|transcript|NM_017982.3|protein_coding|8/9|c.1197C>A|p.Gly399Gly|1378/3027|1197/1473|399/490||;p3_1000G_AA=G|||;p3_1000G_AC=126;p3_1000G_AF=0.0251597;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=15425;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223396838;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=9,4257;ESP6500_AA_GTC=0,9,2124;ESP6500_CDS_SIZES=NM_017982.3:1473;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=25;ESP6500_EA_AC=10,8424;ESP6500_EA_GTC=0,10,4207;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017982.3:coding-synonymous;ESP6500_GL=SUSD4;ESP6500_GRCh38_POSITION=1:223223496;ESP6500_GTC=0,19,6331;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_017982.3:c.1197C>A;ESP6500_HGVS_PROTEIN_VAR=NM_017982.3:p.(G399);ESP6500_MAF=0.1186,0.211,0.1496;ESP6500_TAC=19,12681	GT:AD:DP:GQ:PL	0/1:28,33:61:99:824,0,757
chr1	223229098	rs75029427	G	T	706.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.122;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.129;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.1;ReadPosRankSum=-1.435;SOR=1.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75029427;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_017982.3|protein_coding|6/8|c.916+99C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=336;p3_1000G_AF=0.0670927;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=20793;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223402440;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,19:37:99:0|1:223229098_G_T:735,0,1277
chr1	223229099	rs79446368	G	A	706.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.408;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.129;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.1;ReadPosRankSum=-1.456;SOR=1.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79446368;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_017982.3|protein_coding|6/8|c.916+98C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=160;p3_1000G_AF=0.0319489;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=20786;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223402441;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,19:37:99:0|1:223229098_G_T:735,0,1277
chr1	223234882	rs11485987	T	C	179.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11485987;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_001037175.2|protein_coding||c.*70A>G|||||28|,C|intron_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_017982.3|protein_coding|5/8|c.725-5494A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=208;p3_1000G_AF=0.0415335;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=20760;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223408224;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:208,15,0
chr1	223268720	rs3738594	C	T	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.032;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.194;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738594;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_017982.3|protein_coding|3/8|c.362-45G>A||||||,T|intron_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_001037175.2|protein_coding|3/5|c.362-45G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=151;p3_1000G_AF=0.0301518;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=19752;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223442062;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0245;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=8,4398;ESP6500_AA_AGE=15.5+/-35.6;ESP6500_AA_GTC=0,8,2195;ESP6500_CDS_SIZES=NM_017982.3:1473,NM_001037175.2:873;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=65;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017982.3:intron,NM_001037175.2:intron;ESP6500_GL=SUSD4;ESP6500_GRCh38_POSITION=1:223268720;ESP6500_GTC=0,9,6494;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017982.3:c.362-45G>A,NM_001037175.2:c.362-45G>A;ESP6500_MAF=0.0116,0.1816,0.0692;ESP6500_TAC=9,12997	GT:AD:DP:GQ:PL	0/1:19,13:32:99:345,0,536
chr1	223363265	rs75318848	C	G	879.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.55;ReadPosRankSum=0.486;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75318848;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_017982.3|protein_coding|2/8|c.148+13G>C||||||,G|intron_variant|MODIFIER|SUSD4|SUSD4|transcript|NM_001037175.2|protein_coding|2/5|c.148+13G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=160;p3_1000G_AF=0.0319489;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=10525;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223536607;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=9,4391;ESP6500_AA_GTC=0,9,2191;ESP6500_CDS_SIZES=NM_017982.3:1473,NM_001037175.2:873;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=19;ESP6500_EA_AC=2,8594;ESP6500_EA_GTC=0,2,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017982.3:intron,NM_001037175.2:intron;ESP6500_GL=SUSD4;ESP6500_GRCh38_POSITION=1:223363265;ESP6500_GTC=0,11,6487;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_017982.3:c.148+13G>C,NM_001037175.2:c.148+13G>C;ESP6500_MAF=0.0233,0.2045,0.0846;ESP6500_TAC=11,12985	GT:AD:DP:GQ:PL	0/1:17,28:45:99:908,0,410
chr1	223363360	rs143929528;rs568360954;~rs143929528	TTGC	T	1363.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.351;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=5.457;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.51;ReadPosRankSum=-0.437;SOR=1.018;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143929528;dbSNPBuildID=134;ANN=T|disruptive_inframe_deletion|MODERATE|SUSD4|SUSD4|transcript|NM_017982.3|protein_coding|2/9|c.63_65delGCA|p.Gln22del|246/3027|63/1473|21/490||,T|disruptive_inframe_deletion|MODERATE|SUSD4|SUSD4|transcript|NM_001037175.2|protein_coding|2/6|c.63_65delGCA|p.Gln22del|246/1096|63/873|21/290||;p3_1000G_AC=161;p3_1000G_AF=0.0321486;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=16437;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223536702;p3_1000G_GRCH37_REF=TTGC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=INDEL;ESP6500_AA_AC=73,323,3854;ESP6500_AA_GTC=0,1,72,15,292,1745;ESP6500_CDS_SIZES=NM_017982.3:1473,NM_017982.3:1473,NM_001037175.2:873,NM_001037175.2:873;ESP6500_CG=1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=32;ESP6500_EA_AC=171,5,8058;ESP6500_EA_GTC=1,0,169,0,5,3942;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017982.3:coding,NM_017982.3:coding,NM_001037175.2:coding,NM_001037175.2:coding;ESP6500_GL=SUSD4;ESP6500_GRCh38_POSITION=1:223363360;ESP6500_GTC=1,1,241,15,297,5687;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_017982.3:c.65_66insGCA,NM_017982.3:c.63_65del3,NM_001037175.2:c.65_66insGCA,NM_001037175.2:c.63_65del3;ESP6500_HGVS_PROTEIN_VAR=NM_017982.3:p.(Q22delinsQQ),NM_017982.3:p.(Q21_Q22delinsQ),NM_001037175.2:p.(Q22delinsQQ),NM_001037175.2:p.(Q21_Q22delinsQ);ESP6500_MAF=2.1375,9.3176,4.5819;ESP6500_TAC=244,328,11912	GT:AD:DP:GQ:PL	0/1:23,35:58:99:1401,0,893
chr1	223393517	rs111306873	T	C	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.761;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.405;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111306873;dbSNPBuildID=132;ANN=C|synonymous_variant|LOW|CCDC185|CCDC185|transcript|NM_152610.2|protein_coding|1/1|c.42T>C|p.Asp14Asp|145/2098|42/1872|14/623||;p3_1000G_AA=C|||;p3_1000G_AC=460;p3_1000G_AF=0.091853;p3_1000G_AFR_AF=0.1218;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=10160;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.0398;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223566859;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=331,3661;ESP6500_AA_GTC=4,323,1669;ESP6500_CDS_SIZES=NM_152610.2:1872;ESP6500_CG=1.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=5;ESP6500_EA_AC=244,7760;ESP6500_EA_GTC=0,244,3758;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152610.2:coding-synonymous;ESP6500_GL=C1orf65;ESP6500_GRCh38_POSITION=1:223393517;ESP6500_GTC=4,567,5427;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152610.2:c.42T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152610.2:p.(D14);ESP6500_MAF=3.0485,8.2916,4.7933;ESP6500_TAC=575,11421	GT:AD:DP:GQ:PL	0/1:8,11:19:99:300,0,191
chr1	223393534	rs75945379	G	A	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.245;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-1.744;SOR=0.209;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75945379;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|CCDC185|CCDC185|transcript|NM_152610.2|protein_coding|1/1|c.59G>A|p.Arg20Gln|162/2098|59/1872|20/623||;p3_1000G_AA=G|||;p3_1000G_AC=406;p3_1000G_AF=0.0810703;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=10145;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.0398;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223566876;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=233,3717;ESP6500_AA_GTC=5,223,1747;ESP6500_CDS_SIZES=NM_152610.2:1872;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=5;ESP6500_EA_AC=244,7682;ESP6500_EA_GTC=2,240,3721;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152610.2:missense;ESP6500_GL=C1orf65;ESP6500_GRCh38_POSITION=1:223393534;ESP6500_GS=43;ESP6500_GTC=7,463,5468;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152610.2:c.59G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152610.2:p.(R20Q);ESP6500_MAF=3.0785,5.8987,4.0165;ESP6500_PH=possibly-damaging:0.824;ESP6500_TAC=477,11399	GT:AD:DP:GQ:PL	0/1:8,15:23:99:382,0,177
chr1	223393925	rs6679661	C	T	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.69;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=5.62;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=0.833;SOR=1.561;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6679661;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|CCDC185|CCDC185|transcript|NM_152610.2|protein_coding|1/1|c.450C>T|p.Pro150Pro|553/2098|450/1872|150/623||;p3_1000G_AA=C|||;p3_1000G_AC=437;p3_1000G_AF=0.0872604;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=15567;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0398;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223567267;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=455,3939;ESP6500_AA_GTC=25,405,1767;ESP6500_CDS_SIZES=NM_152610.2:1872;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=15;ESP6500_EA_AC=321,8275;ESP6500_EA_GTC=6,309,3983;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152610.2:coding-synonymous;ESP6500_GL=C1orf65;ESP6500_GRCh38_POSITION=1:223393925;ESP6500_GTC=31,714,5750;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152610.2:c.450C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152610.2:p.(P150);ESP6500_MAF=3.7343,10.355,5.9738;ESP6500_TAC=776,12214	GT:AD:DP:GQ:PL	0/1:13,16:29:99:502,0,318
chr1	223394059	rs6689850	T	C	576.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.27;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.02;ReadPosRankSum=1.99;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6689850;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|CCDC185|CCDC185|transcript|NM_152610.2|protein_coding|1/1|c.584T>C|p.Val195Ala|687/2098|584/1872|195/623||;p3_1000G_AA=T|||;p3_1000G_AC=403;p3_1000G_AF=0.0804712;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=17152;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223567401;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=359,4047;ESP6500_AA_AGE=182.6+/-210.3;ESP6500_AA_GTC=19,321,1863;ESP6500_CDS_SIZES=NM_152610.2:1872;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=331,8269;ESP6500_EA_AGE=115.3+/-175.2;ESP6500_EA_GTC=6,319,3975;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152610.2:missense;ESP6500_GL=C1orf65;ESP6500_GRCh38_POSITION=1:223394059;ESP6500_GS=64;ESP6500_GTC=25,640,5838;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152610.2:c.584T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152610.2:p.(V195A);ESP6500_MAF=3.8488,8.148,5.3052;ESP6500_PH=benign:0.02;ESP6500_TAC=690,12316	GT:AD:DP:GQ:PL	0/1:12,20:32:99:605,0,291
chr1	223394189	rs2298063	G	A	671.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.608;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.365;SOR=0.647;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298063;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|CCDC185|CCDC185|transcript|NM_152610.2|protein_coding|1/1|c.714G>A|p.Pro238Pro|817/2098|714/1872|238/623||;p3_1000G_AA=G|||;p3_1000G_AC=403;p3_1000G_AF=0.0804712;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=16355;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223567531;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=359,4047;ESP6500_AA_AGE=179.4+/-207.9;ESP6500_AA_GTC=19,321,1863;ESP6500_CDS_SIZES=NM_152610.2:1872;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=331,8269;ESP6500_EA_AGE=114.6+/-174.5;ESP6500_EA_GTC=6,319,3975;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152610.2:coding-synonymous;ESP6500_GL=C1orf65;ESP6500_GRCh38_POSITION=1:223394189;ESP6500_GTC=25,640,5838;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152610.2:c.714G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152610.2:p.(P238);ESP6500_MAF=3.8488,8.148,5.3052;ESP6500_TAC=690,12316	GT:AD:DP:GQ:PL	0/1:23,29:52:99:700,0,506
chr1	223394466	rs6682552	C	T	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.086;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.24;ReadPosRankSum=1.88;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6682552;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|CCDC185|CCDC185|transcript|NM_152610.2|protein_coding|1/1|c.991C>T|p.Arg331Trp|1094/2098|991/1872|331/623||;p3_1000G_AA=C|||;p3_1000G_AC=403;p3_1000G_AF=0.0804712;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=14331;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223567808;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=302,3938;ESP6500_AA_GTC=10,282,1828;ESP6500_CDS_SIZES=NM_152610.2:1872;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=291,8107;ESP6500_EA_GTC=7,277,3915;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152610.2:missense;ESP6500_GL=C1orf65;ESP6500_GRCh38_POSITION=1:223394466;ESP6500_GS=101;ESP6500_GTC=17,559,5743;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152610.2:c.991C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152610.2:p.(R331W);ESP6500_MAF=3.4651,7.1226,4.6922;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=593,12045	GT:AD:DP:GQ:PL	0/1:14,6:20:99:133,0,383
chr1	223541885	rs1437449559	G	GT	500.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=4.268;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.058;SOR=0.689;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=GT|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|20/20|c.2089-27dupA||||||	GT:AD:DP:GQ:PL	0/1:27,18:45:99:538,0,874
chr1	223542987	rs4072246	A	G	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.79;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.286;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|20/20|c.2088+121T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1538;p3_1000G_AF=0.30710899999999997;p3_1000G_AFR_AF=0.46819999999999995;p3_1000G_AMR_AF=0.24780000000000002;p3_1000G_AN=5008;p3_1000G_DP=17355;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_POS=223716349;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.23309999999999997;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,8:22:99:232,0,367
chr1	223544122	rs34158997	A	G	532.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.623;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.945;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.11;SOR=0.207;SNP;HET;VARTYPE=SNP;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|19/21|c.1974T>C|p.Leu658Leu|2062/2427|1974/2112|658/703||;p3_1000G_AA=G|||;p3_1000G_AC=1629;p3_1000G_AF=0.32528;p3_1000G_AFR_AF=0.46440000000000003;p3_1000G_AMR_AF=0.25070000000000003;p3_1000G_AN=5008;p3_1000G_DP=21197;p3_1000G_EAS_AF=0.33130000000000004;p3_1000G_EUR_AF=0.24450000000000005;p3_1000G_GRCH37_POS=223717484;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,20:39:99:561,0,502
chr1	223545156	rs61823552	A	C	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.586;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=0.242;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|17/20|c.1833+75T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1581;p3_1000G_AF=0.31569499999999995;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.25070000000000003;p3_1000G_AN=5008;p3_1000G_DP=22043;p3_1000G_EAS_AF=0.3254;p3_1000G_EUR_AF=0.24450000000000005;p3_1000G_GRCH37_POS=223718518;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.26580000000000004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:332,0,199
chr1	223545289	rs61823553	G	A	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.054;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=0.514;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61823553;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|17/21|c.1775C>T|p.Thr592Met|1863/2427|1775/2112|592/703||;p3_1000G_AA=G|||;p3_1000G_AC=2209;p3_1000G_AF=0.441094;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=21453;p3_1000G_EAS_AF=0.5397;p3_1000G_EUR_AF=0.5586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223718651;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=349,1035;ESP6500_AA_GTC=41,267,384;ESP6500_CDS_SIZES=NM_001143962.1:1812;ESP6500_CG=3.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=106;ESP6500_EA_AC=1733,1449;ESP6500_EA_GTC=459,815,317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001143962.1:missense;ESP6500_GL=CAPN8;ESP6500_GRCh38_POSITION=1:223545289;ESP6500_GS=81;ESP6500_GTC=500,1082,701;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001143962.1:c.1475C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001143962.1:p.(T492M);ESP6500_MAF=45.5374,25.2168,45.5979;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=2082,2484	GT:AD:DP:GQ:PL	0/1:30,14:44:99:307,0,792
chr1	223545308	rs61823554	A	G	763.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.157;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=1.35;SOR=0.592;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|16/20|c.1765-9T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2710;p3_1000G_AF=0.541134;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=21570;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_POS=223718670;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,29:47:99:792,0,379
chr1	223545350	rs74145908	T	C	1298.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|16/20|c.1765-51A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4994;p3_1000G_AF=0.99720447;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=1.0;p3_1000G_AN=5008;p3_1000G_DP=21291;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=1.0;p3_1000G_GRCH37_POS=223718712;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1327,120,0
chr1	223545402	rs35808016	C	T	573.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.82;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-0.553;SOR=0.638;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35808016;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|16/20|c.1765-103G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=372;p3_1000G_AF=0.0742812;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=22015;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.2018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223718764;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,21:31:99:602,0,262
chr1	223549282	rs1197432977;rs763673602	TA	T	328.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.436;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.484;SOR=0.648;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151,144;ANN=T|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|16/20|c.1764+35delT||||||	GT:AD:DP:GQ:PL	0/1:15,19:34:99:366,0,303
chr1	223549417	rs34606532	G	A	415.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.58;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.537;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34606532;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|15/20|c.1700-35C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2221;p3_1000G_AF=0.44349;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=18352;p3_1000G_EAS_AF=0.5496;p3_1000G_EUR_AF=0.5586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223722780;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=352,1032;ESP6500_AA_GTC=41,270,381;ESP6500_CDS_SIZES=NM_001143962.1:1812;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=116;ESP6500_EA_AC=1732,1450;ESP6500_EA_GTC=458,816,317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001143962.1:intron;ESP6500_GL=CAPN8;ESP6500_GRCh38_POSITION=1:223549417;ESP6500_GTC=499,1086,698;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001143962.1:c.1400-35C>T;ESP6500_MAF=45.5688,25.4335,45.6417;ESP6500_TAC=2084,2482	GT:AD:DP:GQ:PL	0/1:22,18:40:99:444,0,520
chr1	223553668	rs920712850	A	G	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.245;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.327;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=G|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|14/20|c.1641+164T>C||||||	GT:AD:DP:GQ:PL	0/1:6,9:15:99:243,0,163
chr1	223553719	rs1045662286	T	C	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.73;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=9.432;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.529;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=C|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|14/20|c.1641+113A>G||||||	GT:AD:DP:GQ:PL	0/1:14,10:24:99:298,0,393
chr1	223553772	rs892681708	C	T	454.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.595;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.143;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|14/20|c.1641+60G>A||||||	GT:AD:DP:GQ:PL	0/1:27,20:47:99:483,0,746
chr1	223612155	rs34786756	C	T	858.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34786756;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|11/20|c.1323+91G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3850;p3_1000G_AF=0.76877;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=21134;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.6531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223799857;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:887,84,0
chr1	223612169	rs35116708	C	T	945.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35116708;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|11/20|c.1323+77G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2730;p3_1000G_AF=0.545128;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=20802;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223799871;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:974,93,0
chr1	223618102	rs34893034	C	T	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.398;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=0.21;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34893034;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|9/20|c.1135+1191G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=715;p3_1000G_AF=0.142772;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=22335;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223805804;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:94:94,0,115
chr1	223619537	rs34693465	C	G	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.657;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=-1.405;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34693465;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|8/20|c.975-84G>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=971;p3_1000G_AF=0.19389;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=19764;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223807239;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,13:23:99:434,0,322
chr1	223625884	rs35539373	G	T	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.907;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.438;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=0.168;SOR=1.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35539373;dbSNPBuildID=126;ANN=T|missense_variant|MODERATE|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|6/21|c.734C>A|p.Ser245Tyr|822/2427|734/2112|245/703||;p3_1000G_AA=G|||;p3_1000G_AC=3026;p3_1000G_AF=0.604233;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=18138;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223813586;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=918,466;ESP6500_AA_GTC=298,322,72;ESP6500_CDS_SIZES=NM_001143962.1:1812;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=80;ESP6500_EA_AC=1729,1453;ESP6500_EA_GTC=485,759,347;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001143962.1:missense;ESP6500_GL=CAPN8;ESP6500_GRCh38_POSITION=1:223625884;ESP6500_GS=144;ESP6500_GTC=783,1081,419;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001143962.1:c.734C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001143962.1:p.(S245Y);ESP6500_MAF=45.6631,33.6705,42.028;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=2647,1919	GT:AD:DP:GQ:PL	0/1:25,11:36:99:218,0,705
chr1	223626969	rs61825208	A	T	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61825208;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|5/20|c.729+20T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3025;p3_1000G_AF=0.604034;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=13184;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223814671;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=918,466;ESP6500_AA_GTC=298,322,72;ESP6500_CDS_SIZES=NM_001143962.1:1812;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=65;ESP6500_EA_AC=1729,1453;ESP6500_EA_GTC=485,759,347;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001143962.1:intron;ESP6500_GL=CAPN8;ESP6500_GRCh38_POSITION=1:223626969;ESP6500_GTC=783,1081,419;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001143962.1:c.729+20T>A;ESP6500_MAF=45.6631,33.6705,42.028;ESP6500_TAC=2647,1919	GT:AD:DP:GQ:PL	0/1:2,4:6:57:105,0,57
chr1	223626980	rs67990281	A	T	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.272;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=-0.854;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67990281;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|5/20|c.729+9T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=718;p3_1000G_AF=0.143371;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=13896;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0.2058;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223814682;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=240,1144;ESP6500_AA_GTC=20,200,472;ESP6500_CDS_SIZES=NM_001143962.1:1812;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=82;ESP6500_EA_AC=637,2545;ESP6500_EA_GTC=68,501,1022;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001143962.1:intron;ESP6500_GL=CAPN8;ESP6500_GRCh38_POSITION=1:223626980;ESP6500_GTC=88,701,1494;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001143962.1:c.729+9T>A;ESP6500_MAF=20.0189,17.341,19.2072;ESP6500_TAC=877,3689	GT:AD:DP:GQ:PL	0/1:5,3:8:63:63,0,121
chr1	223627873	rs34187970	G	A	500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=5.549;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34187970;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|4/20|c.560+136C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3989;p3_1000G_AF=0.796526;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=15829;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223815575;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:529,45,0
chr1	223628149	rs138483593	AG	A	485.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.934;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=1.189;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.048;SOR=1.028;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs138483593;dbSNPBuildID=134;ANN=A|splice_region_variant&intron_variant|LOW|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|3/20|c.427-8delC||||||;p3_1000G_AA=GGGGGG|GGGGGG|GGGGG|deletion;p3_1000G_AC=352;p3_1000G_AF=0.0702875;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=18884;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223815851;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=INDEL;ESP6500_AA_AC=82,3530;ESP6500_AA_GTC=15,52,1739;ESP6500_CDS_SIZES=NM_001143962.1:1812;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=31;ESP6500_EA_AC=733,6331;ESP6500_EA_GTC=127,479,2926;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001143962.1:intron;ESP6500_GL=CAPN8;ESP6500_GRCh38_POSITION=1:223628149;ESP6500_GTC=142,531,4665;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001143962.1:c.427-8del1;ESP6500_MAF=10.3766,2.2702,7.6339;ESP6500_TAC=815,9861	GT:AD:DP:GQ:PL	0/1:35,23:58:99:523,0,937
chr1	223628620	rs66602040	A	G	780.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs66602040;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|3/20|c.426+42T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3987;p3_1000G_AF=0.796126;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=21539;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.7356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223816322;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1288,96;ESP6500_AA_GTC=602,84,6;ESP6500_CDS_SIZES=NM_001143962.1:1812;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=50;ESP6500_EA_AC=2390,792;ESP6500_EA_GTC=911,568,112;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001143962.1:intron;ESP6500_GL=CAPN8;ESP6500_GRCh38_POSITION=1:223628620;ESP6500_GTC=1513,652,118;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001143962.1:c.426+42T>C;ESP6500_MAF=24.89,6.9364,19.4481;ESP6500_TAC=3678,888	GT:AD:DP:GQ:PL	1/1:0,24:24:72:809,72,0
chr1	223628645	rs61825210	A	G	846.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61825210;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|3/20|c.426+17T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4000;p3_1000G_AF=0.798722;p3_1000G_AFR_AF=0.9592;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=21550;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.7396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223816347;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1304,80;ESP6500_AA_GTC=617,70,5;ESP6500_CDS_SIZES=NM_001143962.1:1812;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=66;ESP6500_EA_AC=2395,787;ESP6500_EA_GTC=914,567,110;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001143962.1:intron;ESP6500_GL=CAPN8;ESP6500_GRCh38_POSITION=1:223628645;ESP6500_GTC=1531,637,115;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001143962.1:c.426+17T>C;ESP6500_MAF=24.7329,5.7803,18.9882;ESP6500_TAC=3699,867	GT:AD:DP:GQ:PL	1/1:0,27:27:81:875,81,0
chr1	223628875	rs61825211	T	C	263.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61825211;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|2/20|c.308-95A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3990;p3_1000G_AF=0.796725;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=18946;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.7356;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223816577;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7843;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:292,24,0
chr1	223642864	rs11584107	G	A	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.096;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.301;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.783;SOR=0.999;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11584107;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|2/20|c.307+11466C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1338;p3_1000G_AF=0.267173;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=16649;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.4801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223830566;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,16:36:99:336,0,507
chr1	223654211	rs11585533	C	A	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.162;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.77;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11585533;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CAPN8|CAPN8|transcript|NM_001143962.1|protein_coding|2/20|c.307+119G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1567;p3_1000G_AF=0.312899;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=21406;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223841913;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:318,0,178
chr1	223712706	rs25655	C	G	1543.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=1.298;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs25655;dbSNPBuildID=72;ANN=G|missense_variant|MODERATE|CAPN2|CAPN2|transcript|NM_001748.4|protein_coding|1/21|c.66C>G|p.Asp22Glu|290/3488|66/2103|22/700||,G|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001146068.1|protein_coding|1/20|c.4-5056C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4945;p3_1000G_AF=0.98742;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=7548;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223900408;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4194,200;ESP6500_AA_GTC=2000,194,3;ESP6500_CDS_SIZES=NM_001748.4:2103,NM_001146068.1:1869;ESP6500_CG=2.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_72;ESP6500_DP=24;ESP6500_EA_AC=8586,2;ESP6500_EA_GTC=4292,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001748.4:missense,NM_001146068.1:intron;ESP6500_GL=CAPN2;ESP6500_GRCh38_POSITION=1:223712706;ESP6500_GS=45,.;ESP6500_GTC=6292,196,3;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001748.4:c.66C>G,NM_001146068.1:c.4-5056C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001748.4:p.(D22E),.;ESP6500_MAF=0.0233,4.5517,1.556;ESP6500_PH=benign:0.0,.;ESP6500_TAC=12780,202	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1572,144,0
chr1	223717830	rs17596	G	A	1151.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.79;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17596;dbSNPBuildID=137;ANN=A|splice_region_variant&synonymous_variant|LOW|CAPN2|CAPN2|transcript|NM_001748.4|protein_coding|2/21|c.306G>A|p.Leu102Leu|530/3488|306/2103|102/700||,A|splice_region_variant&synonymous_variant|LOW|CAPN2|CAPN2|transcript|NM_001146068.1|protein_coding|2/21|c.72G>A|p.Leu24Leu|308/3266|72/1869|24/622||;p3_1000G_AA=G|||;p3_1000G_AC=2982;p3_1000G_AF=0.595447;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=19640;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223905532;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1925,2481;ESP6500_AA_AGE=548.1+/-377.4;ESP6500_AA_GTC=416,1093,694;ESP6500_CDS_SIZES=NM_001748.4:2103,NM_001146068.1:1869;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_63;ESP6500_DP=50;ESP6500_EA_AC=6692,1908;ESP6500_EA_AGE=727.2+/-406.6;ESP6500_EA_GTC=2604,1484,212;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001748.4:coding-synonymous-near-splice,NM_001146068.1:coding-synonymous-near-splice;ESP6500_GL=CAPN2;ESP6500_GRCh38_POSITION=1:223717830;ESP6500_GTC=3020,2577,906;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001748.4:c.306G>A,NM_001146068.1:c.72G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001748.4:p.(L102),NM_001146068.1:p.(L24);ESP6500_MAF=22.186,43.6904,33.746;ESP6500_TAC=8617,4389	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1180,120,0
chr1	223745392	rs3738377	C	T	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.617;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.819;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738377;dbSNPBuildID=107;ANN=T|structural_interaction_variant|HIGH|CAPN2|CAPN2|interaction|1KFU:L_96-L_171:NM_001748.4|protein_coding|4/21|c.513C>T||||||,T|synonymous_variant|LOW|CAPN2|CAPN2|transcript|NM_001748.4|protein_coding|4/21|c.513C>T|p.Ala171Ala|737/3488|513/2103|171/700||,T|synonymous_variant|LOW|CAPN2|CAPN2|transcript|NM_001146068.1|protein_coding|4/21|c.279C>T|p.Ala93Ala|515/3266|279/1869|93/622||;p3_1000G_AA=C|||;p3_1000G_AC=158;p3_1000G_AF=0.0315495;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=18520;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223933094;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=5,4401;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,5,2198;ESP6500_CDS_SIZES=NM_001748.4:2103,NM_001146068.1:1869;ESP6500_CG=-10.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=92;ESP6500_EA_AC=15,8585;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=0,15,4285;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001748.4:coding-synonymous,NM_001146068.1:coding-synonymous;ESP6500_GL=CAPN2;ESP6500_GRCh38_POSITION=1:223745392;ESP6500_GTC=0,20,6483;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001748.4:c.513C>T,NM_001146068.1:c.279C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001748.4:p.(A171),NM_001146068.1:p.(A93);ESP6500_MAF=0.1744,0.1135,0.1538;ESP6500_TAC=20,12986	GT:AD:DP:GQ:PL	0/1:8,16:24:99:399,0,177
chr1	223747018	rs17600	G	A	2410.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17600;dbSNPBuildID=102;ANN=A|synonymous_variant|LOW|CAPN2|CAPN2|transcript|NM_001748.4|protein_coding|5/21|c.582G>A|p.Ala194Ala|806/3488|582/2103|194/700||,A|synonymous_variant|LOW|CAPN2|CAPN2|transcript|NM_001146068.1|protein_coding|5/21|c.348G>A|p.Ala116Ala|584/3266|348/1869|116/622||;p3_1000G_AA=G|||;p3_1000G_AC=3425;p3_1000G_AF=0.683906;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=17869;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.9016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223934720;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9346;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1781,2625;ESP6500_AA_AGE=525.9+/-371.7;ESP6500_AA_GTC=355,1071,777;ESP6500_CDS_SIZES=NM_001748.4:2103,NM_001146068.1:1869;ESP6500_CG=-10.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_63;ESP6500_DP=107;ESP6500_EA_AC=7788,812;ESP6500_EA_AGE=782.8+/-407.6;ESP6500_EA_GTC=3525,738,37;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001748.4:coding-synonymous,NM_001146068.1:coding-synonymous;ESP6500_GL=CAPN2;ESP6500_GRCh38_POSITION=1:223747018;ESP6500_GTC=3880,1809,814;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001748.4:c.582G>A,NM_001146068.1:c.348G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001748.4:p.(A194),NM_001146068.1:p.(A116);ESP6500_MAF=9.4419,40.4222,26.4263;ESP6500_TAC=9569,3437	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2439,246,0
chr1	223750863	rs1153968	A	C	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.81;ReadPosRankSum=1.71;SOR=1.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1153968;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001748.4|protein_coding|6/20|c.814-27A>C||||||,C|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001146068.1|protein_coding|6/20|c.580-27A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2605;p3_1000G_AF=0.520168;p3_1000G_AFR_AF=0.879;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=18206;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.327;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223938565;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2994,1096;ESP6500_AA_GTC=1110,774,161;ESP6500_CDS_SIZES=NM_001748.4:2103,NM_001146068.1:1869;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=30;ESP6500_EA_AC=2635,5353;ESP6500_EA_GTC=491,1653,1850;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001748.4:intron,NM_001146068.1:intron;ESP6500_GL=CAPN2;ESP6500_GRCh38_POSITION=1:223750863;ESP6500_GTC=1601,2427,2011;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001748.4:c.814-27A>C,NM_001146068.1:c.580-27A>C;ESP6500_MAF=32.987,26.7971,46.6054;ESP6500_TAC=5629,6449	GT:AD:DP:GQ:PL	0/1:12,5:17:99:127,0,318
chr1	223761477	.	T	A	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.483;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=15.681;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=3.77;SOR=4.255;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001748.4|protein_coding|12/20|c.1530-104T>A||||||,A|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001146068.1|protein_coding|12/20|c.1296-104T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,9:29:99:0|1:223761463_T_A:107,0,720
chr1	223761484	.	T	A	14.91	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.971;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=8.671;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.58;SOR=3.258;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001748.4|protein_coding|12/20|c.1530-97T>A||||||,A|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001146068.1|protein_coding|12/20|c.1296-97T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,6:28:43:1|0:223761463_T_A:43,0,980
chr1	223764139	rs751128	T	C	782.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.817;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=-0.468;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs751128;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001748.4|protein_coding|14/20|c.1633-11T>C||||||,C|intron_variant|MODIFIER|CAPN2|CAPN2|transcript|NM_001146068.1|protein_coding|14/20|c.1399-11T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2151;p3_1000G_AF=0.429513;p3_1000G_AFR_AF=0.5197;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=19425;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.4284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223951841;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2135,2271;ESP6500_AA_AGE=598.5+/-389.1;ESP6500_AA_GTC=520,1095,588;ESP6500_CDS_SIZES=NM_001748.4:2103,NM_001146068.1:1869;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=165;ESP6500_EA_AC=3617,4983;ESP6500_EA_AGE=625.6+/-397.7;ESP6500_EA_GTC=799,2019,1482;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001748.4:intron,NM_001146068.1:intron;ESP6500_GL=CAPN2;ESP6500_GRCh38_POSITION=1:223764139;ESP6500_GTC=1319,3114,2070;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001748.4:c.1633-11T>C,NM_001146068.1:c.1399-11T>C;ESP6500_MAF=42.0581,48.4567,44.2257;ESP6500_TAC=5752,7254	GT:AD:DP:GQ:PL	0/1:17,33:50:99:811,0,431
chr1	224030727	rs12131321	G	A	169.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.253;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.68;MQRankSum=-0.8;QD=10.61;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199851169;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LOC100287497|LOC100287497|transcript|NR_136593.1|pseudogene|4/4|n.949-513G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1194;p3_1000G_AF=0.238419;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs199851169;p3_1000G_DP=23236;p3_1000G_EAS_AF=0.0853;p3_1000G_EUR_AF=0.3867;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224218429;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:198,0,227
chr1	224101336	rs12748539	A	G	210.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.19;QD=23.42;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12748539;dbSNPBuildID=121;ANN=G|intergenic_region|MODIFIER|LOC100287497-FBXO28|LOC100287497-FBXO28|intergenic_region|LOC100287497-FBXO28|||n.224101336A>G||||||	GT:AD:DP:GQ:PL	1/1:0,9:9:27:239,27,0
chr1	224114452	rs554014228	T	TGAG	1291.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.48;SOR=1.536;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3066024;dbSNPBuildID=142;ANN=TGAG|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NM_015176.3|protein_coding|1/4|c.267+57_267+59dupGAG||||||INFO_REALIGN_3_PRIME,TGAG|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NM_001136115.2|protein_coding|1/3|c.267+57_267+59dupGAG||||||INFO_REALIGN_3_PRIME,TGAG|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NR_049764.1|pseudogene|1/3|n.310+57_310+59dupGAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4932;p3_1000G_AF=0.984824;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=13141;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224302154;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1329,90,0
chr1	224130449	rs10651854;rs3065998	T	TTTG	1366.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=1.839;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3065998,rs10651854;dbSNPBuildID=102,130;ANN=TTTG|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NM_015176.3|protein_coding|1/4|c.268-20_268-18dupGTT||||||INFO_REALIGN_3_PRIME,TTTG|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NM_001136115.2|protein_coding|1/3|c.268-20_268-18dupGTT||||||INFO_REALIGN_3_PRIME,TTTG|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NR_049764.1|pseudogene|1/3|n.311-20_311-18dupGTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4933;p3_1000G_AF=0.985024;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20960;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224318151;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4095,171;ESP6500_AA_GTC=1964,167,2;ESP6500_CDS_SIZES=NM_015176.3:1107,NM_001136115.2:540;ESP6500_CG=4.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=57;ESP6500_EA_AC=8252,2;ESP6500_EA_GTC=4125,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015176.3:intron,NM_001136115.2:intron;ESP6500_GL=FBXO28;ESP6500_GRCh38_POSITION=1:224130449;ESP6500_GTC=6089,169,2;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015176.3:c.268-23_268-22insTTG,NM_001136115.2:c.268-23_268-22insTTG;ESP6500_MAF=0.0242,4.0084,1.3818;ESP6500_TAC=12347,173	GT:AD:DP:GQ:PL	1/1:0,31:31:96:1404,96,0
chr1	224134282	rs1472167	C	T	218.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1472167;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NM_015176.3|protein_coding|3/4|c.516+70C>T||||||,T|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NM_001136115.2|protein_coding|3/3|c.516+70C>T||||||,T|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NR_049764.1|pseudogene|2/3|n.420+3701C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4981;p3_1000G_AF=0.994609;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=15790;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224321984;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:247,21,0
chr1	224157310	rs7543762	G	A	256.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7543762;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NM_015176.3|protein_coding|4/4|c.713-42G>A||||||,A|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NM_001136115.2|protein_coding|3/3|c.517-42G>A||||||,A|intron_variant|MODIFIER|FBXO28|FBXO28|transcript|NR_049764.1|pseudogene|3/3|n.617-42G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4981;p3_1000G_AF=0.994609;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=17398;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224345012;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4330,70;ESP6500_AA_AGE=62.9+/-100.1;ESP6500_AA_GTC=2130,70,0;ESP6500_CDS_SIZES=NM_015176.3:1107,NM_001136115.2:540;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=58;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015176.3:intron,NM_001136115.2:intron;ESP6500_GL=FBXO28;ESP6500_GRCh38_POSITION=1:224157310;ESP6500_GTC=6430,70,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015176.3:c.713-42G>A,NM_001136115.2:c.517-42G>A;ESP6500_MAF=0.0,1.5909,0.5385;ESP6500_TAC=12930,70	GT:AD:DP:GQ:PL	1/1:0,9:9:26:285,26,0
chr1	224175972	rs200913375	C	CT	79.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.65;SOR=0.132;INS;HET;VARTYPE=INS;dbSNP138_ID=rs200913375;dbSNPBuildID=137;ANN=CT|intergenic_region|MODIFIER|FBXO28-DEGS1|FBXO28-DEGS1|intergenic_region|FBXO28-DEGS1|||n.224175972_224175973insT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,3:6:99:0|1:224175972_C_CT:117,0,125
chr1	224175981	rs45522536	C	T	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=1.65;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45522536;dbSNPBuildID=127;ANN=T|intergenic_region|MODIFIER|FBXO28-DEGS1|FBXO28-DEGS1|intergenic_region|FBXO28-DEGS1|||n.224175981C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=704;p3_1000G_AF=0.140575;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=17791;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224363683;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,3:6:99:0|1:224175972_C_CT:117,0,125
chr1	224183256	rs531583910;rs550491332	AGCCGCC	A	85.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.43;ReadPosRankSum=-0.674;SOR=1.609;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=A|5_prime_UTR_variant|MODIFIER|DEGS1|DEGS1|transcript|NM_003676.3|protein_coding|1/3|c.-68_-63delGCCGCC|||||63|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|DEGS1|DEGS1|transcript|NM_001321541.1|protein_coding|1/4|c.-68_-63delGCCGCC|||||63|INFO_REALIGN_3_PRIME,A|upstream_gene_variant|MODIFIER|DEGS1|DEGS1|transcript|NM_001321542.1|protein_coding||c.-6346_-6341delGCCGCC|||||254|;p3_1000G_AC=58;p3_1000G_AF=0.0115815;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=9592;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224370958;p3_1000G_GRCH37_REF=AGCCGCC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,3:4:66:123,0,66
chr1	224183488	.	C	T	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=T|upstream_gene_variant|MODIFIER|DEGS1|DEGS1|transcript|NM_001321542.1|protein_coding||c.-6115C>T|||||23|,T|intron_variant|MODIFIER|DEGS1|DEGS1|transcript|NM_003676.3|protein_coding|1/2|c.82+70C>T||||||,T|intron_variant|MODIFIER|DEGS1|DEGS1|transcript|NM_001321541.1|protein_coding|1/3|c.82+70C>T||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	224281284	rs34156240	C	CGTGT	251.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.46;ReadPosRankSum=-0.253;SOR=1.802;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34156240;dbSNPBuildID=126;ANN=CGTGT|intron_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding|15/22|c.1900-103_1900-100dupACAC||||||,CGTGT|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding|13/20|c.1333-103_1333-100dupACAC||||||,CGTGT|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding|14/21|c.1627-103_1627-100dupACAC||||||,CGTGT|intron_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding|14/21|c.1582-103_1582-100dupACAC||||||	GT:AD:DP:GQ:PL	0/1:1,5:6:35:207,0,35
chr1	224303800	rs12084919	C	T	794.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.574;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.139;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=0.123;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12084919;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|NVL|NVL|transcript|NM_002533.3|protein_coding|9/23|c.883G>A|p.Val295Ile|945/2925|883/2571|295/856||,T|missense_variant|MODERATE|NVL|NVL|transcript|NM_001243146.1|protein_coding|6/21|c.235G>A|p.Val79Ile|540/2601|235/2004|79/667||,T|missense_variant|MODERATE|NVL|NVL|transcript|NM_001243147.1|protein_coding|8/22|c.610G>A|p.Val204Ile|672/2652|610/2298|204/765||,T|missense_variant|MODERATE|NVL|NVL|transcript|NM_206840.2|protein_coding|8/22|c.565G>A|p.Val189Ile|871/2851|565/2253|189/750||;p3_1000G_AA=.|||;p3_1000G_AC=57;p3_1000G_AF=0.0113818;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19168;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224491502;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,4403;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,3,2200;ESP6500_CDS_SIZES=NM_206840.2:2253,NM_002533.3:2571,NM_001243147.1:2298,NM_001243146.1:2004;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=88;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_206840.2:missense,NM_002533.3:missense,NM_001243147.1:missense,NM_001243146.1:missense;ESP6500_GL=NVL;ESP6500_GRCh38_POSITION=1:224303800;ESP6500_GS=29,29,29,29;ESP6500_GTC=0,5,6498;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206840.2:c.565G>A,NM_002533.3:c.883G>A,NM_001243147.1:c.610G>A,NM_001243146.1:c.235G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206840.2:p.(V189I),NM_002533.3:p.(V295I),NM_001243147.1:p.(V204I),NM_001243146.1:p.(V79I);ESP6500_MAF=0.0233,0.0681,0.0384;ESP6500_PH=benign:0.057,benign:0.057,benign:0.057,benign:0.057;ESP6500_TAC=5,13001	GT:AD:DP:GQ:PL	0/1:18,34:52:99:823,0,345
chr1	224304679	rs7522125	C	T	580.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7522125;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding|8/22|c.825+57G>A||||||,T|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding|5/20|c.177+57G>A||||||,T|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding|7/21|c.552+57G>A||||||,T|intron_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding|7/21|c.507+57G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=4956;p3_1000G_AF=0.989617;p3_1000G_AFR_AF=0.9622;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=12286;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224492381;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1337,47;ESP6500_AA_GTC=647,43,2;ESP6500_CDS_SIZES=NM_206840.2:2253,NM_002533.3:2571,NM_001243147.1:2298,NM_001243146.1:2004;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=63;ESP6500_EA_AC=3180,2;ESP6500_EA_GTC=1589,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206840.2:intron,NM_002533.3:intron,NM_001243147.1:intron,NM_001243146.1:intron;ESP6500_GL=NVL;ESP6500_GRCh38_POSITION=1:224304679;ESP6500_GTC=2236,45,2;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206840.2:c.507+57G>A,NM_002533.3:c.825+57G>A,NM_001243147.1:c.552+57G>A,NM_001243146.1:c.177+57G>A;ESP6500_MAF=0.0629,3.396,1.0731;ESP6500_TAC=4517,49	GT:AD:DP:GQ:PL	1/1:0,17:17:51:609,51,0
chr1	224305044	rs3754090	C	T	2198.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.83;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3754090;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|NVL|NVL|transcript|NM_002533.3|protein_coding|7/23|c.738G>A|p.Leu246Leu|800/2925|738/2571|246/856||,T|synonymous_variant|LOW|NVL|NVL|transcript|NM_001243146.1|protein_coding|4/21|c.90G>A|p.Leu30Leu|395/2601|90/2004|30/667||,T|synonymous_variant|LOW|NVL|NVL|transcript|NM_001243147.1|protein_coding|6/22|c.465G>A|p.Leu155Leu|527/2652|465/2298|155/765||,T|synonymous_variant|LOW|NVL|NVL|transcript|NM_206840.2|protein_coding|6/22|c.420G>A|p.Leu140Leu|726/2851|420/2253|140/750||;p3_1000G_AA=.|||;p3_1000G_AC=4107;p3_1000G_AF=0.820088;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=17164;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224492746;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2619,1787;ESP6500_AA_AGE=641.4+/-397.5;ESP6500_AA_GTC=760,1099,344;ESP6500_CDS_SIZES=NM_206840.2:2253,NM_002533.3:2571,NM_001243147.1:2298,NM_001243146.1:2004;ESP6500_CG=2.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=285;ESP6500_EA_AC=8114,486;ESP6500_EA_AGE=797.7+/-407.4;ESP6500_EA_GTC=3830,454,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206840.2:coding-synonymous,NM_002533.3:coding-synonymous,NM_001243147.1:coding-synonymous,NM_001243146.1:coding-synonymous;ESP6500_GL=NVL;ESP6500_GRCh38_POSITION=1:224305044;ESP6500_GTC=4590,1553,360;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206840.2:c.420G>A,NM_002533.3:c.738G>A,NM_001243147.1:c.465G>A,NM_001243146.1:c.90G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206840.2:p.(L140),NM_002533.3:p.(L246),NM_001243147.1:p.(L155),NM_001243146.1:p.(L30);ESP6500_MAF=5.6512,40.5583,17.4765;ESP6500_TAC=10733,2273	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2227,237,0
chr1	224308150	rs7534447	C	T	1084.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7534447;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|NVL|NVL|transcript|NM_002533.3|protein_coding|6/23|c.456G>A|p.Arg152Arg|518/2925|456/2571|152/856||,T|synonymous_variant|LOW|NVL|NVL|transcript|NM_206840.2|protein_coding|5/22|c.138G>A|p.Arg46Arg|444/2851|138/2253|46/750||,T|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding|3/20|c.-33-2984G>A||||||,T|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding|5/21|c.343-2984G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=4115;p3_1000G_AF=0.821685;p3_1000G_AFR_AF=0.5295;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=16067;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224495852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2644,1762;ESP6500_AA_AGE=644.4+/-398.0;ESP6500_AA_GTC=775,1094,334;ESP6500_CDS_SIZES=NM_206840.2:2253,NM_002533.3:2571,NM_001243147.1:2298,NM_001243146.1:2004;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=171;ESP6500_EA_AC=8114,486;ESP6500_EA_AGE=797.7+/-407.4;ESP6500_EA_GTC=3830,454,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206840.2:coding-synonymous,NM_002533.3:coding-synonymous,NM_001243147.1:intron,NM_001243146.1:intron;ESP6500_GL=NVL;ESP6500_GRCh38_POSITION=1:224308150;ESP6500_GTC=4605,1548,350;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206840.2:c.138G>A,NM_002533.3:c.456G>A,NM_001243147.1:c.343-2984G>A,NM_001243146.1:c.-3017G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206840.2:p.(R46),NM_002533.3:p.(R152),.,.;ESP6500_MAF=5.6512,39.9909,17.2843;ESP6500_TAC=10758,2248	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1113,108,0
chr1	224313158	rs764405800	CAA	C	131.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding|4/22|c.285-1303_285-1302delTT||||||,C|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding|3/20|c.-34+4534_-34+4535delTT||||||,C|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding|4/21|c.285-1303_285-1302delTT||||||,C|intron_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding|3/21|c.-34-1303_-34-1302delTT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:224313158_CAA_C:168,12,0
chr1	224313179	rs6684300	A	G	140.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6684300;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding|4/22|c.285-1322T>C||||||,G|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding|3/20|c.-34+4515T>C||||||,G|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding|4/21|c.285-1322T>C||||||,G|intron_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding|3/21|c.-34-1322T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:224313158_CAA_C:168,12,0
chr1	224317868	rs3066969;rs386369780;~rs3066969	T	TAA	1208.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=38.63;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3066969;dbSNPBuildID=102,138;ANN=TAA|intron_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding|3/22|c.184+8_184+9dupTT||||||,TAA|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding|2/20|c.-134+8_-134+9dupTT||||||,TAA|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding|3/21|c.184+8_184+9dupTT||||||,TAA|intron_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding|2/21|c.-135+8_-135+9dupTT||||||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17462;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224505570;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4256,4;ESP6500_AA_GTC=2126,4,0;ESP6500_CDS_SIZES=NM_206840.2:2253,NM_002533.3:2571,NM_001243147.1:2298,NM_001243146.1:2004;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=86;ESP6500_EA_AC=8250,2;ESP6500_EA_GTC=4125,0,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206840.2:intron,NM_002533.3:intron,NM_001243147.1:intron,NM_001243146.1:intron;ESP6500_GL=NVL;ESP6500_GRCh38_POSITION=1:224317868;ESP6500_GTC=6251,4,1;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_206840.2:c.-6046_-6045insTT,NM_002533.3:c.184+9_184+10insTT,NM_001243147.1:c.184+9_184+10insTT,NM_001243146.1:c.-12736_-12735insTT;ESP6500_MAF=0.0242,0.0939,0.048;ESP6500_TAC=12506,6	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1246,84,0
chr1	224326573	rs4653578	G	A	294.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4653578;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding|1/22|c.58-109C>T||||||,A|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding|1/20|c.-187+3498C>T||||||,A|intron_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding|1/21|c.58-109C>T||||||,A|intron_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding|1/21|c.-188+3498C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17419;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224514275;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:323,30,0
chr1	224330140	rs2896990	C	T	1346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2896990;dbSNPBuildID=101;ANN=T|5_prime_UTR_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding|1/23|c.-13G>A|||||13|,T|5_prime_UTR_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding|1/21|c.-256G>A|||||25007|,T|5_prime_UTR_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding|1/22|c.-13G>A|||||13|,T|5_prime_UTR_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding|1/22|c.-257G>A|||||18317|;p3_1000G_AA=C|||;p3_1000G_AC=4156;p3_1000G_AF=0.829872;p3_1000G_AFR_AF=0.5605;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=14194;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224517842;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2725,1681;ESP6500_AA_AGE=649.3+/-398.9;ESP6500_AA_GTC=829,1067,307;ESP6500_CDS_SIZES=NM_206840.2:2253,NM_002533.3:2571,NM_001243147.1:2298,NM_001243146.1:2004;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=50;ESP6500_EA_AC=8113,487;ESP6500_EA_AGE=789.4+/-407.6;ESP6500_EA_GTC=3832,449,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206840.2:utr-5,NM_002533.3:utr-5,NM_001243147.1:utr-5,NM_001243146.1:utr-5;ESP6500_GL=NVL;ESP6500_GRCh38_POSITION=1:224330140;ESP6500_GTC=4661,1516,326;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206840.2:c.-18317G>A,NM_002533.3:c.-13G>A,NM_001243147.1:c.-13G>A,NM_001243146.1:c.-25007G>A;ESP6500_MAF=5.6628,38.1525,16.6692;ESP6500_TAC=10838,2168	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1375,144,0
chr1	224330205	rs4146965	A	T	747.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4146965;dbSNPBuildID=110;ANN=T|upstream_gene_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding||c.-78T>A|||||16|,T|upstream_gene_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding||c.-25072T>A|||||16|,T|upstream_gene_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding||c.-78T>A|||||16|,T|upstream_gene_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding||c.-18382T>A|||||16|,T|intergenic_region|MODIFIER|NVL-CNIH4|NVL-CNIH4|intergenic_region|NVL-CNIH4|||n.224330205A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4108;p3_1000G_AF=0.820288;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=14588;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.9672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224517907;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:776,75,0
chr1	224330222	rs3738381	A	T	287.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-2.197;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738381;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|NVL|NVL|transcript|NM_002533.3|protein_coding||c.-95T>A|||||33|,T|upstream_gene_variant|MODIFIER|NVL|NVL|transcript|NM_001243146.1|protein_coding||c.-25089T>A|||||33|,T|upstream_gene_variant|MODIFIER|NVL|NVL|transcript|NM_001243147.1|protein_coding||c.-95T>A|||||33|,T|upstream_gene_variant|MODIFIER|NVL|NVL|transcript|NM_206840.2|protein_coding||c.-18399T>A|||||33|,T|intergenic_region|MODIFIER|NVL-CNIH4|NVL-CNIH4|intergenic_region|NVL-CNIH4|||n.224330222A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=56;p3_1000G_AF=0.0111821;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15160;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224517924;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:316,0,270
chr1	224356827	rs7517754	A	G	743.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7517754;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|CNIH4|CNIH4|transcript|NM_014184.3|protein_coding|1/5|c.-98A>G|||||98|,G|5_prime_UTR_variant|MODIFIER|CNIH4|CNIH4|transcript|NM_001277197.1|protein_coding|1/4|c.-98A>G|||||98|,G|5_prime_UTR_variant|MODIFIER|CNIH4|CNIH4|transcript|NM_001277198.1|protein_coding|1/5|c.-98A>G|||||98|,G|5_prime_UTR_variant|MODIFIER|CNIH4|CNIH4|transcript|NM_001277199.1|protein_coding|1/5|c.-565A>G|||||9103|,G|5_prime_UTR_variant|MODIFIER|CNIH4|CNIH4|transcript|NM_001277200.1|protein_coding|1/5|c.-98A>G|||||98|,G|non_coding_transcript_exon_variant|MODIFIER|CNIH4|CNIH4|transcript|NR_102347.1|pseudogene|1/4|n.17A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3664;p3_1000G_AF=0.731629;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=14098;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.7505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224544529;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:772,57,0
chr1	224433666	rs2405033	G	C	487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2405033;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322302.1|protein_coding||c.-1423G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136288.1|pseudogene||n.-974G>C|||||974|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136289.1|pseudogene||n.-974G>C|||||974|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136290.1|pseudogene||n.-974G>C|||||974|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322303.1|protein_coding||c.-1423G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322304.1|protein_coding||c.-82192G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136291.1|pseudogene||n.-1229G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136292.1|pseudogene||n.-1229G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136293.1|pseudogene||n.-1229G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136294.1|pseudogene||n.-1229G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136295.1|pseudogene||n.-1229G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136296.1|pseudogene||n.-1229G>C|||||1229|,C|upstream_gene_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136297.1|pseudogene||n.-1229G>C|||||1229|,C|intron_variant|MODIFIER|WDR26|WDR26|transcript|NM_025160.6|protein_coding|1/13|c.422+18C>G||||||,C|intron_variant|MODIFIER|WDR26|WDR26|transcript|NM_001115113.2|protein_coding|1/13|c.422+18C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=6447;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224621368;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1383,1;ESP6500_AA_GTC=691,1,0;ESP6500_CDS_SIZES=NM_025160.6:1986,NM_001115113.2:1938;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025160.6:intron,NM_001115113.2:intron;ESP6500_GL=WDR26;ESP6500_GRCh38_POSITION=1:224433666;ESP6500_GTC=2282,1,0;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_025160.6:c.422+18C>G,NM_001115113.2:c.422+18C>G;ESP6500_MAF=0.0,0.0723,0.0219;ESP6500_TAC=4565,1	GT:AD:DP:GQ:PL	1/1:0,14:14:42:516,42,0
chr1	224515746	rs2786563	A	G	314.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2786563;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322304.1|protein_coding|2/7|c.-112A>G|||||112|,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322302.1|protein_coding|2/6|c.165+61403A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136288.1|pseudogene|1/6|n.224-50453A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322303.1|protein_coding|1/5|c.99+80559A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136295.1|pseudogene|1/7|n.294-31083A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136297.1|pseudogene|1/6|n.294-50453A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136289.1|pseudogene|2/8|n.229A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136290.1|pseudogene|2/7|n.229A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136291.1|pseudogene|3/8|n.365A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136292.1|pseudogene|2/7|n.299A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136293.1|pseudogene|4/10|n.469A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136294.1|pseudogene|2/9|n.299A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136296.1|pseudogene|2/8|n.299A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4756;p3_1000G_AF=0.949681;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=16897;p3_1000G_EAS_AF=0.9583;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224703448;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:343,30,0
chr1	224617410	rs1532557	C	T	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.588;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-0.349;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1532557;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322302.1|protein_coding|2/6|c.166-63548C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136288.1|pseudogene|2/6|n.289+51146C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136289.1|pseudogene|3/7|n.425+51146C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136290.1|pseudogene|2/6|n.360-63548C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322303.1|protein_coding|1/5|c.100-63548C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322304.1|protein_coding|2/6|c.28-63548C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136291.1|pseudogene|3/7|n.496-63548C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136292.1|pseudogene|2/6|n.430-63548C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136293.1|pseudogene|5/9|n.665+51146C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136294.1|pseudogene|4/8|n.599+34143C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136295.1|pseudogene|3/7|n.470+51146C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136296.1|pseudogene|3/7|n.495+51146C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136297.1|pseudogene|2/6|n.359+51146C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_152495.1|protein_coding|1/5|c.81+155C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322305.1|protein_coding|1/4|c.81+155C>T||||||,T|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136287.1|pseudogene|1/4|n.779+155C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1482;p3_1000G_AF=0.295927;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=13562;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224805112;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:213,0,214
chr1	224684741	rs3738364	A	G	713.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.313;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=1.07;SOR=0.685;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738364;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322302.1|protein_coding|3/6|c.235-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136288.1|pseudogene|3/6|n.359-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136289.1|pseudogene|4/7|n.495-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136290.1|pseudogene|3/6|n.429-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322303.1|protein_coding|2/5|c.169-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322304.1|protein_coding|3/6|c.97-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136291.1|pseudogene|4/7|n.565-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136292.1|pseudogene|3/6|n.499-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136293.1|pseudogene|6/9|n.735-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136294.1|pseudogene|5/8|n.669-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136295.1|pseudogene|4/7|n.540-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136296.1|pseudogene|4/7|n.565-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136297.1|pseudogene|3/6|n.429-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_152495.1|protein_coding|2/5|c.151-55A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NM_001322305.1|protein_coding|2/4|c.150+3715A>G||||||,G|intron_variant|MODIFIER|CNIH3|CNIH3|transcript|NR_136287.1|pseudogene|2/4|n.849-55A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1423;p3_1000G_AF=0.284145;p3_1000G_AFR_AF=0.413;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=19947;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.1978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224872443;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=484,900;ESP6500_AA_GTC=83,318,291;ESP6500_CDS_SIZES=NM_152495.1:483;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=139;ESP6500_EA_AC=658,2524;ESP6500_EA_GTC=61,536,994;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152495.1:intron;ESP6500_GL=CNIH3;ESP6500_GRCh38_POSITION=1:224684741;ESP6500_GTC=144,854,1285;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152495.1:c.151-55A>G;ESP6500_MAF=20.6788,34.9711,25.011;ESP6500_TAC=1142,3424	GT:AD:DP:GQ:PL	0/1:15,27:42:99:742,0,353
chr1	225023982	rs2501114	G	A	196.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501114;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001145154.1|protein_coding|11/11|c.*113G>A|||||113|,A|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|11/83|c.1358+117G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3881;p3_1000G_AF=0.77496;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=16418;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225211684;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:225,18,0
chr1	225042906	rs2501107;402644	C	T	712.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501107;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|13/84|c.1560C>T|p.Cys520Cys|1775/13788|1560/13548|520/4515||;p3_1000G_AA=C|||;p3_1000G_AC=3512;p3_1000G_AF=0.701278;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=17033;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225230608;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=707,677;ESP6500_AA_GTC=184,339,169;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=3057,125;ESP6500_EA_GTC=1470,117,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:coding-synonymous;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225042906;ESP6500_GTC=1654,456,173;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.1560C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(C520);ESP6500_MAF=3.9283,48.9162,17.5646;ESP6500_TAC=3764,802;CLINVAR_ALLELEID=389376;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225042906C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2501107	GT:AD:DP:GQ:PL	1/1:0,25:25:75:741,75,0
chr1	225050148	rs2501086	A	C	270.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2501086;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|15/83|c.1913-62A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3512;p3_1000G_AF=0.701278;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=16787;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225237850;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:299,24,0
chr1	225079264	rs3105559;402645	C	G	655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3105559;dbSNPBuildID=103;ANN=G|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|18/84|c.2482C>G|p.Leu828Val|2697/13788|2482/13548|828/4515||;p3_1000G_AA=G|||;p3_1000G_AC=3517;p3_1000G_AF=0.702276;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=15963;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225266966;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=718,666;ESP6500_AA_GTC=189,340,163;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=2.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=43;ESP6500_EA_AC=3053,125;ESP6500_EA_GTC=1468,117,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225079264;ESP6500_GS=32;ESP6500_GTC=1657,457,167;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.2482C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(L828V);ESP6500_MAF=3.9333,48.1214,17.3389;ESP6500_PH=benign:0.0;ESP6500_TAC=3771,791;CLINVAR_ALLELEID=389361;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225079264C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3105559	GT:AD:DP:GQ:PL	1/1:0,21:21:63:684,63,0
chr1	225080641	rs3128651;402647	A	G	1760.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.32;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128651;dbSNPBuildID=103;ANN=G|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|19/84|c.3029A>G|p.Lys1010Arg|3244/13788|3029/13548|1010/4515||;p3_1000G_AA=G|||;p3_1000G_AC=3522;p3_1000G_AF=0.703275;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=19233;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225268343;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=718,666;ESP6500_AA_GTC=189,340,163;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=53;ESP6500_EA_AC=3057,125;ESP6500_EA_GTC=1470,117,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225080641;ESP6500_GS=26;ESP6500_GTC=1659,457,167;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.3029A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(K1010R);ESP6500_MAF=3.9283,48.1214,17.3237;ESP6500_PH=benign:0.0;ESP6500_TAC=3775,791;CLINVAR_ALLELEID=389366;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225080641A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3128651	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:225080641_A_G:1789,120,0
chr1	225080644	rs3128652;402648	G	A	1760.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128652;dbSNPBuildID=103;ANN=A|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|19/84|c.3032G>A|p.Arg1011Gln|3247/13788|3032/13548|1011/4515||;p3_1000G_AA=A|||;p3_1000G_AC=3519;p3_1000G_AF=0.702676;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=19891;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225268346;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=718,666;ESP6500_AA_GTC=189,340,163;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=50;ESP6500_EA_AC=3057,125;ESP6500_EA_GTC=1470,117,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225080644;ESP6500_GS=43;ESP6500_GTC=1659,457,167;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.3032G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(R1011Q);ESP6500_MAF=3.9283,48.1214,17.3237;ESP6500_PH=benign:0.0;ESP6500_TAC=3775,791;CLINVAR_ALLELEID=389396;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225080644G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3128652	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:225080641_A_G:1789,120,0
chr1	225082707	rs3128655;402649	A	T	194.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.35;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128655;dbSNPBuildID=103;ANN=T|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|20/84|c.3295A>T|p.Asn1099Tyr|3510/13788|3295/13548|1099/4515||;p3_1000G_AA=A|||;p3_1000G_AC=3316;p3_1000G_AF=0.662141;p3_1000G_AFR_AF=0.3366;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=14483;p3_1000G_EAS_AF=0.7133;p3_1000G_EUR_AF=0.8817;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225270409;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=649,735;ESP6500_AA_GTC=152,345,195;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=74;ESP6500_EA_AC=2829,353;ESP6500_EA_GTC=1257,315,19;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225082707;ESP6500_GS=143;ESP6500_GTC=1409,660,214;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.3295A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(N1099Y);ESP6500_MAF=11.0937,46.8931,23.8283;ESP6500_PH=probably-damaging:0.965;ESP6500_TAC=3478,1088;CLINVAR_ALLELEID=389369;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225082707A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3128655	GT:AD:DP:GQ:PL	1/1:0,8:8:24:223,24,0
chr1	225085546	rs3128658;402650	G	T	791.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3128658;dbSNPBuildID=103;ANN=T|missense_variant&splice_region_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|21/84|c.3330G>T|p.Met1110Ile|3545/13788|3330/13548|1110/4515||;p3_1000G_AA=G|||;p3_1000G_AC=3516;p3_1000G_AF=0.702077;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=18461;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225273248;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=714,670;ESP6500_AA_GTC=189,336,167;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=65;ESP6500_EA_AC=3042,126;ESP6500_EA_GTC=1463,116,5;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225085546;ESP6500_GS=10;ESP6500_GTC=1652,452,172;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.3330G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(M1110I);ESP6500_MAF=3.9773,48.4104,17.4868;ESP6500_PH=benign:0.11;ESP6500_TAC=3756,796;CLINVAR_ALLELEID=389401;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225085546G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3128658	GT:AD:DP:GQ:PL	1/1:0,26:26:78:820,78,0
chr1	225123422	.	A	G	12.05	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=-0.431;SOR=0.223;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|26/83|c.4166+4128A>G||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31
chr1	225207225	rs148175906	GT	G	207.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=1.25;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs148175906;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|40/83|c.6373+12delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=ttttttt|TTTTTTT|TTTTTT|deletion;p3_1000G_AC=173;p3_1000G_AF=0.0345447;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=17068;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225394927;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=INDEL;ESP6500_AA_AC=4,2026;ESP6500_AA_GTC=1,2,1012;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=60;ESP6500_EA_AC=9,4173;ESP6500_EA_GTC=1,7,2083;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225207225;ESP6500_GTC=2,9,3095;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.6373+6del1;ESP6500_MAF=0.2152,0.197,0.2093;ESP6500_TAC=13,6199	GT:AD:DP:GQ:PL	0/1:10,10:20:99:245,0,252
chr1	225259136	rs41303311	G	A	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.467;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.612;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0.119;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41303311;dbSNPBuildID=127;ANN=A|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|46/84|c.7022G>A|p.Gly2341Glu|7237/13788|7022/13548|2341/4515||;p3_1000G_AA=G|||;p3_1000G_AC=131;p3_1000G_AF=0.0261581;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=14622;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225446838;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=17,1367;ESP6500_AA_GTC=0,17,675;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=41;ESP6500_EA_AC=61,3121;ESP6500_EA_GTC=0,61,1530;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225259136;ESP6500_GS=98;ESP6500_GTC=0,78,2205;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.7022G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(G2341E);ESP6500_MAF=1.917,1.2283,1.7083;ESP6500_PH=possibly-damaging:0.93;ESP6500_TAC=78,4488	GT:AD:DP:GQ:PL	0/1:13,8:21:99:157,0,369
chr1	225289844	rs12042076	A	C	78.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=-0.319;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12042076;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|52/83|c.7993-41A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1696;p3_1000G_AF=0.338658;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=14696;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225477546;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=202,1182;ESP6500_AA_GTC=12,178,502;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=72;ESP6500_EA_AC=1139,2043;ESP6500_EA_GTC=207,725,659;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225289844;ESP6500_GTC=219,903,1161;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.7993-41A>C;ESP6500_MAF=35.7951,14.5954,29.3693;ESP6500_TAC=1341,3225	GT:AD:DP:GQ:PL	0/1:1,3:4:24:107,0,24
chr1	225290091	rs12042900;402654	T	G	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.82;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.054;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12042900;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|53/83|c.8190+9T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1695;p3_1000G_AF=0.338458;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=16064;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225477793;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=204,1180;ESP6500_AA_GTC=12,180,500;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=91;ESP6500_EA_AC=1139,2043;ESP6500_EA_GTC=207,725,659;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225290091;ESP6500_GTC=219,905,1159;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.8190+9T>G;ESP6500_MAF=35.7951,14.7399,29.4131;ESP6500_TAC=1343,3223;CLINVAR_ALLELEID=389402;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225290091T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12042900	GT:AD:DP:GQ:PL	0/1:9,11:20:99:295,0,211
chr1	225304843	rs1995482	A	G	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.854;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=-0.022;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1995482;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|55/83|c.8545-65A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1631;p3_1000G_AF=0.325679;p3_1000G_AFR_AF=0.1142;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=15093;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225492545;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:84:165,0,84
chr1	225305143	rs12034925	C	T	18.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=-0.09;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12034925;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|56/83|c.8726+54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1693;p3_1000G_AF=0.338059;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=17442;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225492845;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:47:47,0,164
chr1	225318560	rs4653418	G	A	314.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.381;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.279;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4653418;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|58/83|c.8962-23G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1079;p3_1000G_AF=0.215455;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=19197;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225506262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=136,1248;ESP6500_AA_GTC=5,126,561;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=78;ESP6500_EA_AC=720,2462;ESP6500_EA_GTC=81,558,952;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225318560;ESP6500_GTC=86,684,1513;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.8962-23G>A;ESP6500_MAF=22.6273,9.8266,18.7473;ESP6500_TAC=856,3710	GT:AD:DP:GQ:PL	0/1:6,12:18:99:343,0,199
chr1	225322939	rs1532771	T	C	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.259;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1532771;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|60/83|c.9216+116T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2132;p3_1000G_AF=0.425719;p3_1000G_AFR_AF=0.3389;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=20395;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225510641;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:183,0,222
chr1	225324700	rs75859387	GT	G	83.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.631;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=0.064;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs75859387;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|61/83|c.9349-32delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTT|TTTTT|TTTT|deletion;p3_1000G_AC=1090;p3_1000G_AF=0.217652;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=15395;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225512402;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=INDEL;ESP6500_AA_AC=202,1678;ESP6500_AA_GTC=27,148,765;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=82;ESP6500_EA_AC=884,3026;ESP6500_EA_GTC=158,568,1229;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225324700;ESP6500_GTC=185,716,1994;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.9349-36del1;ESP6500_MAF=22.6087,10.7447,18.7565;ESP6500_TAC=1086,4704	GT:AD:DP:GQ:PL	0/1:9,5:14:99:121,0,251
chr1	225340481	rs3856145;402656	C	A	638.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.562;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=4.012;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.96;ReadPosRankSum=0.211;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3856145;dbSNPBuildID=108;ANN=A|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|67/84|c.10179C>A|p.Asp3393Glu|10394/13788|10179/13548|3393/4515||;p3_1000G_AA=C|||;p3_1000G_AC=2653;p3_1000G_AF=0.529752;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=17622;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.4046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225528183;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=846,538;ESP6500_AA_GTC=270,306,116;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=103;ESP6500_EA_AC=1403,1779;ESP6500_EA_GTC=323,757,511;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225340481;ESP6500_GS=45;ESP6500_GTC=593,1063,627;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.10179C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(D3393E);ESP6500_MAF=44.0918,38.8728,49.2554;ESP6500_PH=benign:0.341;ESP6500_TAC=2249,2317;CLINVAR_ALLELEID=389404;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225340481C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3856145	GT:AD:DP:GQ:PL	0/1:8,24:32:99:667,0,138
chr1	225345982	rs6667999;402657	A	G	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.48;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6667999;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|68/84|c.10420A>G|p.Lys3474Glu|10635/13788|10420/13548|3474/4515||;p3_1000G_AA=G|||;p3_1000G_AC=2649;p3_1000G_AF=0.528954;p3_1000G_AFR_AF=0.6399;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=18280;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.4046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225533684;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=842,542;ESP6500_AA_GTC=268,306,118;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=1406,1776;ESP6500_EA_GTC=323,760,508;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225345982;ESP6500_GS=56;ESP6500_GTC=591,1066,626;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.10420A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(K3474E);ESP6500_MAF=44.186,39.1618,49.2335;ESP6500_PH=benign:0.0;ESP6500_TAC=2248,2318;CLINVAR_ALLELEID=389385;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225345982A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6667999	GT:AD:DP:GQ:PL	0/1:8,8:16:99:203,0,227
chr1	225346517	rs7527925;402659	T	C	1222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=5.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.72;ReadPosRankSum=1.47;SOR=1.003;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7527925;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|69/84|c.10880T>C|p.Val3627Ala|11095/13788|10880/13548|3627/4515||;p3_1000G_AA=C|||;p3_1000G_AC=2650;p3_1000G_AF=0.529153;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=17450;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.4046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225534219;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=842,542;ESP6500_AA_GTC=268,306,118;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=3.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=63;ESP6500_EA_AC=1404,1770;ESP6500_EA_GTC=323,758,506;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225346517;ESP6500_GS=64;ESP6500_GTC=591,1064,624;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.10880T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(V3627A);ESP6500_MAF=44.2344,39.1618,49.276;ESP6500_PH=benign:0.0;ESP6500_TAC=2246,2312;CLINVAR_ALLELEID=389383;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225346517T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7527925	GT:AD:DP:GQ:PL	0/1:19,40:59:99:1251,0,448
chr1	225346646	rs7535953;402660	G	A	432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.037;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.21;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7535953;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|69/84|c.11009G>A|p.Arg3670Lys|11224/13788|11009/13548|3670/4515||;p3_1000G_AA=G|||;p3_1000G_AC=2650;p3_1000G_AF=0.529153;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=17939;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.4046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225534348;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP;CLINVAR_ALLELEID=389387;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225346646G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7535953	GT:AD:DP:GQ:PL	0/1:16,17:33:99:461,0,486
chr1	225351963	rs3856150	T	A	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3856150;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|70/83|c.11254+80T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3559;p3_1000G_AF=0.710663;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=19829;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.5368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225539665;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:68:98,0,68
chr1	225357878	rs12745950	A	C	695.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.26;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.192;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.824;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12745950;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|71/83|c.11341-618A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2256;p3_1000G_AF=0.450479;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=16159;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225545580;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,19:44:99:0|1:225357878_A_C:724,0,1169
chr1	225357886	rs34993311	A	G	670.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.31;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.661;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-1.268;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34993311;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|71/83|c.11341-610A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1093;p3_1000G_AF=0.218251;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=16169;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.2137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225545588;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,19:43:99:0|1:225357878_A_C:699,0,1194
chr1	225358470	rs9659299	C	G	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.693;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.611;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9659299;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|71/83|c.11341-26C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2258;p3_1000G_AF=0.450879;p3_1000G_AFR_AF=0.5098;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18557;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225546172;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=665,719;ESP6500_AA_GTC=171,323,198;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=19;ESP6500_EA_AC=938,2236;ESP6500_EA_GTC=139,660,788;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225358470;ESP6500_GTC=310,983,986;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.11341-26C>G;ESP6500_MAF=29.5526,48.0491,35.1689;ESP6500_TAC=1603,2955	GT:AD:DP:GQ:PL	0/1:11,9:20:99:204,0,292
chr1	225364922	rs10495239	G	A	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.589;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.86;ReadPosRankSum=0.847;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10495239;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|74/83|c.11811+28G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2413;p3_1000G_AF=0.481829;p3_1000G_AFR_AF=0.5129;p3_1000G_AMR_AF=0.5159;p3_1000G_AN=5008;p3_1000G_DP=15706;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.3479;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225552624;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=676,708;ESP6500_AA_GTC=174,328,190;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=82;ESP6500_EA_AC=1109,2073;ESP6500_EA_GTC=188,733,670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225364922;ESP6500_GTC=362,1061,860;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.11811+28G>A;ESP6500_MAF=34.8523,48.8439,39.0933;ESP6500_TAC=1785,2781	GT:AD:DP:GQ:PL	0/1:5,4:9:72:72,0,116
chr1	225367810	rs11578981;402661	C	T	1760.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=164;ExcessHet=3.0103;FS=1.227;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.275;SOR=0.571;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11578981;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|75/84|c.11817C>T|p.Ala3939Ala|12032/13788|11817/13548|3939/4515||;p3_1000G_AA=C|||;p3_1000G_AC=1628;p3_1000G_AF=0.32508;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=18169;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.5696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225555512;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=347,1037;ESP6500_AA_GTC=48,251,393;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=107;ESP6500_EA_AC=1772,1410;ESP6500_EA_GTC=474,824,293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:coding-synonymous;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225367810;ESP6500_GTC=522,1075,686;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.11817C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(A3939);ESP6500_MAF=44.3118,25.0723,46.4082;ESP6500_TAC=2119,2447;CLINVAR_ALLELEID=389391;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225367810C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11578981	GT:AD:DP:GQ:PL	0/1:90,74:164:99:1789,0,2091
chr1	225367900	rs12737248;402662	T	G	1549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=1.656;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.28;SOR=0.505;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12737248;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|75/84|c.11907T>G|p.Asn3969Lys|12122/13788|11907/13548|3969/4515||;p3_1000G_AA=T|||;p3_1000G_AC=1650;p3_1000G_AF=0.329473;p3_1000G_AFR_AF=0.1914;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=19879;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225555602;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=358,1026;ESP6500_AA_GTC=51,256,385;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=156;ESP6500_EA_AC=1781,1401;ESP6500_EA_GTC=478,825,288;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225367900;ESP6500_GS=94;ESP6500_GTC=529,1081,673;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.11907T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(N3969K);ESP6500_MAF=44.0289,25.8671,46.8463;ESP6500_PH=benign:0.001;ESP6500_TAC=2139,2427;CLINVAR_ALLELEID=389393;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225367900T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12737248	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1578,0,1255
chr1	225374683	rs10915816;402663	C	T	331.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10915816;dbSNPBuildID=120;ANN=T|splice_region_variant&intron_variant|LOW|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|75/83|c.12040-5C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3554;p3_1000G_AF=0.709665;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=15442;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225562385;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=630,754;ESP6500_AA_GTC=143,344,205;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=77;ESP6500_EA_AC=2673,509;ESP6500_EA_GTC=1126,421,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225374683;ESP6500_GTC=1269,765,249;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.12040-5C>T;ESP6500_MAF=15.9962,45.5202,27.661;ESP6500_TAC=3303,1263;CLINVAR_ALLELEID=389386;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225374683C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10915816	GT:AD:DP:GQ:PL	1/1:0,11:11:33:360,33,0
chr1	225377313	rs3856154;402664	T	C	378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.101;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=6.306;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.378;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3856154;dbSNPBuildID=108;ANN=C|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|77/84|c.12287T>C|p.Leu4096Pro|12502/13788|12287/13548|4096/4515||;p3_1000G_AA=C|||;p3_1000G_AC=2786;p3_1000G_AF=0.55631;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=18536;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.659;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225565015;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=474,910;ESP6500_AA_GTC=89,296,307;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=4.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=89;ESP6500_EA_AC=2091,1091;ESP6500_EA_GTC=680,731,180;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225377313;ESP6500_GS=98;ESP6500_GTC=769,1027,487;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.12287T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(L4096P);ESP6500_MAF=34.2866,34.2486,43.8239;ESP6500_PH=benign:0.0;ESP6500_TAC=2565,2001;CLINVAR_ALLELEID=389408;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225377313T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3856154	GT:AD:DP:GQ:PL	0/1:12,17:29:99:407,0,322
chr1	225377371	rs3856155;402665	C	T	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.69;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=3.005;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.27;ReadPosRankSum=-1.343;SOR=1.068;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3856155;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|77/84|c.12345C>T|p.Gly4115Gly|12560/13788|12345/13548|4115/4515||;p3_1000G_AA=c|||;p3_1000G_AC=2463;p3_1000G_AF=0.491813;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=17842;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.6123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225565073;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=315,1069;ESP6500_AA_GTC=38,239,415;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=82;ESP6500_EA_AC=1923,1259;ESP6500_EA_GTC=574,775,242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:coding-synonymous;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225377371;ESP6500_GTC=612,1014,657;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.12345C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(G4115);ESP6500_MAF=39.5663,22.7601,49.0145;ESP6500_TAC=2238,2328;CLINVAR_ALLELEID=389410;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225377371C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3856155	GT:AD:DP:GQ:PL	0/1:27,13:40:99:279,0,617
chr1	225380111	rs61615439	C	T	198.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.466;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.804;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.24;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61615439;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|77/83|c.12411-48C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=444;p3_1000G_AF=0.0886581;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=19024;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0.1233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225567813;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=129,1255;ESP6500_AA_GTC=4,121,567;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=44;ESP6500_EA_AC=405,2777;ESP6500_EA_GTC=27,351,1213;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225380111;ESP6500_GTC=31,472,1780;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.12411-48C>T;ESP6500_MAF=12.7278,9.3208,11.6951;ESP6500_TAC=534,4032	GT:AD:DP:GQ:PL	0/1:13,10:23:99:227,0,378
chr1	225381539	rs950210;402666	T	G	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.875;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.195;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs950210;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|79/84|c.12731T>G|p.Phe4244Cys|12946/13788|12731/13548|4244/4515||;p3_1000G_AA=T|||;p3_1000G_AC=2646;p3_1000G_AF=0.528355;p3_1000G_AFR_AF=0.1936;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=19810;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225569241;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=339,1045;ESP6500_AA_GTC=46,247,399;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=103;ESP6500_EA_AC=2090,1092;ESP6500_EA_GTC=681,728,182;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001373.1:missense;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225381539;ESP6500_GS=205;ESP6500_GTC=727,975,581;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.12731T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001373.1:p.(F4244C);ESP6500_MAF=34.318,24.4942,46.8025;ESP6500_PH=benign:0.0;ESP6500_TAC=2429,2137;CLINVAR_ALLELEID=389388;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225381539T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH14:127602;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=950210	GT:AD:DP:GQ:PL	0/1:18,14:32:99:348,0,438
chr1	225388356	rs6679430	T	C	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.499;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6679430;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|79/83|c.12772-23T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2634;p3_1000G_AF=0.525958;p3_1000G_AFR_AF=0.1831;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=19525;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.6581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225576058;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=331,1053;ESP6500_AA_GTC=45,241,406;ESP6500_CDS_SIZES=NM_001373.1:13548;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=101;ESP6500_EA_AC=2088,1094;ESP6500_EA_GTC=678,732,181;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001373.1:intron;ESP6500_GL=DNAH14;ESP6500_GRCh38_POSITION=1:225388356;ESP6500_GTC=723,973,587;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001373.1:c.12772-23T>C;ESP6500_MAF=34.3809,23.9162,47.0215;ESP6500_TAC=2419,2147	GT:AD:DP:GQ:PL	0/1:10,6:16:99:170,0,292
chr1	225388609	rs10753405	A	G	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.664;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10753405;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|80/83|c.12884+118A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2457;p3_1000G_AF=0.490615;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=20241;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.6123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225576311;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:218,0,161
chr1	225389946	rs12134158	C	T	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.292;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.64;SOR=2.03;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12134158;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|81/83|c.13024+73C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2458;p3_1000G_AF=0.490815;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=19085;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225577648;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:272,0,290
chr1	225392216	rs41268717	A	T	93.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.366;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41268717;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding|81/83|c.13025-75A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=452;p3_1000G_AF=0.0902556;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=21518;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.1243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225579918;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:122,0,134
chr1	225404293	rs77692907	C	T	638.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.833;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=7.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.889;SOR=2.007;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77692907;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|DNAH14|DNAH14|transcript|NM_001373.1|protein_coding||c.*5024C>T|||||4999|,T|intron_variant|MODIFIER|LBR|LBR|transcript|NM_002296.3|protein_coding|13/13|c.1687+111G>A||||||,T|intron_variant|MODIFIER|LBR|LBR|transcript|NM_194442.2|protein_coding|13/13|c.1687+111G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=323;p3_1000G_AF=0.0644968;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=12960;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225591995;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,26:46:99:667,0,517
chr1	225415121	rs6666171	A	T	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.8;ReadPosRankSum=0.842;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6666171;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LBR|LBR|transcript|NM_002296.3|protein_coding|7/13|c.892+157T>A||||||,T|intron_variant|MODIFIER|LBR|LBR|transcript|NM_194442.2|protein_coding|7/13|c.892+157T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=420;p3_1000G_AF=0.0838658;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=19830;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225602823;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:57:57,0,103
chr1	225415401	rs6702433	C	T	81.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6702433;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LBR|LBR|transcript|NM_002296.3|protein_coding|6/13|c.838-69G>A||||||,T|intron_variant|MODIFIER|LBR|LBR|transcript|NM_194442.2|protein_coding|6/13|c.838-69G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=3565;p3_1000G_AF=0.711861;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=18678;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.8419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225603103;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:109,9,0
chr1	225419442	rs2230419;258619	C	T	483.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.55;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2230419;dbSNPBuildID=98;ANN=T|missense_variant|MODERATE|LBR|LBR|transcript|NM_002296.3|protein_coding|5/14|c.461G>A|p.Ser154Asn|635/3823|461/1848|154/615||,T|missense_variant|MODERATE|LBR|LBR|transcript|NM_194442.2|protein_coding|5/14|c.461G>A|p.Ser154Asn|625/3813|461/1848|154/615||;p3_1000G_AA=c|||;p3_1000G_AC=3567;p3_1000G_AF=0.71226;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=18592;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.8419;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225607144;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1926,2480;ESP6500_AA_AGE=537.3+/-374.7;ESP6500_AA_GTC=410,1106,687;ESP6500_CDS_SIZES=NM_194442.2:1848,NM_002296.3:1848;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=57;ESP6500_EA_AC=7221,1379;ESP6500_EA_AGE=748.5+/-407.3;ESP6500_EA_GTC=3032,1157,111;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194442.2:missense,NM_002296.3:missense;ESP6500_GL=LBR;ESP6500_GRCh38_POSITION=1:225419442;ESP6500_GS=46,46;ESP6500_GTC=3442,2263,798;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_194442.2:c.461G>A,NM_002296.3:c.461G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194442.2:p.(S154N),NM_002296.3:p.(S154N);ESP6500_MAF=16.0349,43.7131,29.6709;ESP6500_PH=benign:0.014,benign:0.014;ESP6500_TAC=9147,3859;CLINVAR_ALLELEID=249738;CLINVAR_CLNDISDB=MedGen:C2931048,OMIM:215140,SNOMED_CT:389261002|MedGen:CN169374;CLINVAR_CLNDN=Greenberg_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225419442C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3841|UniProtKB_(protein):Q14739#VAR_024318;CLINVAR_GENEINFO=LBR:3930;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2230419	GT:AD:DP:GQ:PL	1/1:0,14:14:42:512,42,0
chr1	225422061	rs12410357;258618	G	A	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.347;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.25;ReadPosRankSum=0.695;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12410357;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LBR|LBR|transcript|NM_002296.3|protein_coding|3/13|c.366+16C>T||||||,A|intron_variant|MODIFIER|LBR|LBR|transcript|NM_194442.2|protein_coding|3/13|c.366+16C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=416;p3_1000G_AF=0.0830671;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=18538;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.1223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225609763;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=278,4128;ESP6500_AA_AGE=147.6+/-182.1;ESP6500_AA_GTC=4,270,1929;ESP6500_CDS_SIZES=NM_194442.2:1848,NM_002296.3:1848;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=69;ESP6500_EA_AC=1102,7498;ESP6500_EA_AGE=219.0+/-257.2;ESP6500_EA_GTC=68,966,3266;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194442.2:intron,NM_002296.3:intron;ESP6500_GL=LBR;ESP6500_GRCh38_POSITION=1:225422061;ESP6500_GTC=72,1236,5195;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_194442.2:c.366+16C>T,NM_002296.3:c.366+16C>T;ESP6500_MAF=12.814,6.3096,10.6105;ESP6500_TAC=1380,11626;CLINVAR_AF_ESP=0.1061;CLINVAR_AF_EXAC=0.10506;CLINVAR_AF_TGP=0.0831;CLINVAR_ALLELEID=249739;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225422061G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LBR:3930;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12410357	GT:AD:DP:GQ:PL	0/1:14,5:19:99:109,0,412
chr1	225422182	rs1056608;258617	A	G	824.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1056608;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|LBR|LBR|transcript|NM_002296.3|protein_coding|3/14|c.261T>C|p.Pro87Pro|435/3823|261/1848|87/615||,G|synonymous_variant|LOW|LBR|LBR|transcript|NM_194442.2|protein_coding|3/14|c.261T>C|p.Pro87Pro|425/3813|261/1848|87/615||;p3_1000G_AA=A|||;p3_1000G_AC=3360;p3_1000G_AF=0.670927;p3_1000G_AFR_AF=0.3328;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=13788;p3_1000G_EAS_AF=0.9018;p3_1000G_EUR_AF=0.8022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225609884;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1771,2635;ESP6500_AA_AGE=523.3+/-371.0;ESP6500_AA_GTC=342,1087,774;ESP6500_CDS_SIZES=NM_194442.2:1848,NM_002296.3:1848;ESP6500_CG=-3.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=68;ESP6500_EA_AC=6802,1798;ESP6500_EA_AGE=732.0+/-406.8;ESP6500_EA_GTC=2695,1412,193;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194442.2:coding-synonymous,NM_002296.3:coding-synonymous;ESP6500_GL=LBR;ESP6500_GRCh38_POSITION=1:225422182;ESP6500_GTC=3037,2499,967;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_194442.2:c.261T>C,NM_002296.3:c.261T>C;ESP6500_HGVS_PROTEIN_VAR=NM_194442.2:p.(P87),NM_002296.3:p.(P87);ESP6500_MAF=20.907,40.1952,34.0843;ESP6500_TAC=8573,4433;CLINVAR_ALLELEID=249740;CLINVAR_CLNDISDB=MedGen:C2931048,OMIM:215140,SNOMED_CT:389261002|MedGen:CN169374;CLINVAR_CLNDN=Greenberg_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225422182A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3848;CLINVAR_GENEINFO=LBR:3930;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1056608	GT:AD:DP:GQ:PL	1/1:0,28:28:84:853,84,0
chr1	225423959	rs1056607;258616	C	T	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.574;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.21;ReadPosRankSum=0.455;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056607;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|LBR|LBR|transcript|NM_002296.3|protein_coding|2/14|c.117G>A|p.Val39Val|291/3823|117/1848|39/615||,T|synonymous_variant|LOW|LBR|LBR|transcript|NM_194442.2|protein_coding|2/14|c.117G>A|p.Val39Val|281/3813|117/1848|39/615||;p3_1000G_AA=T|||;p3_1000G_AC=3291;p3_1000G_AF=0.657149;p3_1000G_AFR_AF=0.6286;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=19253;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.7058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225611661;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2802,1604;ESP6500_AA_AGE=498.1+/-364.0;ESP6500_AA_GTC=890,1022,291;ESP6500_CDS_SIZES=NM_194442.2:1848,NM_002296.3:1848;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=230;ESP6500_EA_AC=6289,2311;ESP6500_EA_AGE=388.2+/-342.5;ESP6500_EA_GTC=2274,1741,285;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194442.2:coding-synonymous,NM_002296.3:coding-synonymous;ESP6500_GL=LBR;ESP6500_GRCh38_POSITION=1:225423959;ESP6500_GTC=3164,2763,576;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_194442.2:c.117G>A,NM_002296.3:c.117G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194442.2:p.(V39),NM_002296.3:p.(V39);ESP6500_MAF=26.8721,36.4049,30.1015;ESP6500_TAC=9091,3915;CLINVAR_ALLELEID=249741;CLINVAR_CLNDISDB=MedGen:C2931048,OMIM:215140,SNOMED_CT:389261002|MedGen:CN169374;CLINVAR_CLNDN=Greenberg_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225423959C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:15983|Illumina_Clinical_Services_Laboratory,Illumina:3853;CLINVAR_GENEINFO=LBR:3930;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1056607	GT:AD:DP:GQ:PL	0/1:16,7:23:99:102,0,428
chr1	225424098	rs375540112	T	C	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=5.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.571;SOR=1.93;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375540112;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|LBR|LBR|transcript|NM_002296.3|protein_coding|1/13|c.-14-9A>G||||||,C|intron_variant|MODIFIER|LBR|LBR|transcript|NM_194442.2|protein_coding|1/13|c.-14-9A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18981;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225611800;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:142,0,149
chr1	225424143	rs1340867	C	T	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.345;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=-0.18;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1340867;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|LBR|LBR|transcript|NM_002296.3|protein_coding|1/13|c.-14-54G>A||||||,T|intron_variant|MODIFIER|LBR|LBR|transcript|NM_194442.2|protein_coding|1/13|c.-14-54G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3014;p3_1000G_AF=0.601837;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=19190;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225611845;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:48:168,0,48
chr1	225498323	rs2297747	T	C	398.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.28;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=4.092;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.808;SOR=1.325;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297747;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ENAH|ENAH|transcript|NM_001008493.1|protein_coding|14/14|c.1738+24A>G||||||,C|intron_variant|MODIFIER|ENAH|ENAH|transcript|NM_018212.4|protein_coding|13/13|c.1675+24A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=162;p3_1000G_AF=0.0323482;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=17354;p3_1000G_EAS_AF=0.0784;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225686025;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=21,4381;ESP6500_AA_AGE=29.0+/-57.7;ESP6500_AA_GTC=0,21,2180;ESP6500_CDS_SIZES=NM_018212.4:1713,NM_001008493.1:1776;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=130,8464;ESP6500_EA_AGE=65.3+/-127.6;ESP6500_EA_GTC=1,128,4168;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018212.4:intron,NM_001008493.1:intron;ESP6500_GL=ENAH;ESP6500_GRCh38_POSITION=1:225498323;ESP6500_GTC=1,149,6348;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018212.4:c.1675+24A>G,NM_001008493.1:c.1738+24A>G;ESP6500_MAF=1.5127,0.4771,1.1619;ESP6500_TAC=151,12845	GT:AD:DP:GQ:PL	0/1:34,18:52:99:427,0,784
chr1	225511979	rs2184778	G	A	195.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.47;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2184778;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|ENAH|ENAH|transcript|NM_001008493.1|protein_coding|9/14|c.1423-120C>T||||||,A|intron_variant|MODIFIER|ENAH|ENAH|transcript|NM_018212.4|protein_coding|9/13|c.1423-120C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=542;p3_1000G_AF=0.108227;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=19083;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.1193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225699681;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:224,24,0
chr1	225514908	rs151230297	A	G	469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.052;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.209;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.3;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs151230297;dbSNPBuildID=134;ANN=G|splice_region_variant&intron_variant|LOW|ENAH|ENAH|transcript|NM_001008493.1|protein_coding|6/14|c.914-8T>C||||||,G|splice_region_variant&intron_variant|LOW|ENAH|ENAH|transcript|NM_018212.4|protein_coding|6/13|c.914-8T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=163;p3_1000G_AF=0.0325479;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=11177;p3_1000G_EAS_AF=0.0784;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225702610;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=22,4384;ESP6500_AA_AGE=28.1+/-56.4;ESP6500_AA_GTC=0,22,2181;ESP6500_CDS_SIZES=NM_018212.4:1713,NM_001008493.1:1776;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=52;ESP6500_EA_AC=129,8471;ESP6500_EA_AGE=64.2+/-126.4;ESP6500_EA_GTC=1,127,4172;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018212.4:intron,NM_001008493.1:intron;ESP6500_GL=ENAH;ESP6500_GRCh38_POSITION=1:225514908;ESP6500_GTC=1,149,6353;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018212.4:c.914-8T>C,NM_001008493.1:c.914-8T>C;ESP6500_MAF=1.5,0.4993,1.161;ESP6500_TAC=151,12855	GT:AD:DP:GQ:PL	0/1:16,20:36:99:498,0,405
chr1	225519569	rs749919131;218481	GA	G	20.77	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.442;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=7.501;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=-0.677;SOR=2.517;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|splice_region_variant&intron_variant|LOW|ENAH|ENAH|transcript|NM_001008493.1|protein_coding|4/14|c.435-5delT||||||,G|splice_region_variant&intron_variant|LOW|ENAH|ENAH|transcript|NM_018212.4|protein_coding|4/13|c.435-5delT||||||;CLINVAR_AF_EXAC=0.16890;CLINVAR_ALLELEID=215193;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.225519570delA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=ENAH:55740;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=0;CLINVAR_RS=749919131	GT:AD:DP:GQ:PL	0/1:12,6:18:58:58,0,262
chr1	225778130	rs1461957	G	T	14.91	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=0.728;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1461957;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|SRP9|SRP9|transcript|NM_003133.5|protein_coding|1/2|c.72+118G>T||||||,T|intron_variant|MODIFIER|SRP9|SRP9|transcript|NM_001130440.1|protein_coding|1/3|c.72+118G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=615;p3_1000G_AF=0.122804;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=18132;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225965832;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:43:43,0,275
chr1	225786784	rs11441169;rs397936158	T	TG	863.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.836;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.55;SOR=0.643;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11441169;dbSNPBuildID=126,138;ANN=TG|intron_variant|MODIFIER|SRP9|SRP9|transcript|NM_003133.5|protein_coding|2/2|c.142-2455dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|SRP9|SRP9|transcript|NM_001130440.1|protein_coding|2/3|c.142-77dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=G|G|GG|insertion;p3_1000G_AC=2566;p3_1000G_AF=0.51238;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=20365;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225974486;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:30,29:59:99:901,0,946
chr1	225786829	rs4653433	A	G	724.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.58;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=3.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.117;SOR=0.912;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4653433;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|SRP9|SRP9|transcript|NM_003133.5|protein_coding|2/2|c.142-2411A>G||||||,G|intron_variant|MODIFIER|SRP9|SRP9|transcript|NM_001130440.1|protein_coding|2/3|c.142-33A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3105;p3_1000G_AF=0.620008;p3_1000G_AFR_AF=0.3896;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=19521;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.5775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225974531;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,28:58:99:753,0,634
chr1	225786845	rs746059871	CT	C	66.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.601;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=6.936;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=-0.306;SOR=1.73;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|splice_region_variant&intron_variant|LOW|SRP9|SRP9|transcript|NM_001130440.1|protein_coding|2/3|c.142-3delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SRP9|SRP9|transcript|NM_003133.5|protein_coding|2/2|c.142-2381delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:34,10:44:99:104,0,781
chr1	225828680	rs41266229	G	A	418.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.099;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.17;ReadPosRankSum=0.967;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41266229;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|1/8|c.-5-45G>A||||||,A|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|1/8|c.-5-45G>A||||||,A|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|1/8|c.-5-45G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1145;p3_1000G_AF=0.228634;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=9692;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.325;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226016381;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1024,3376;ESP6500_AA_GTC=124,776,1300;ESP6500_CDS_SIZES=NM_001136018.2:1368,NM_000120.3:1368;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=16;ESP6500_EA_AC=2584,6000;ESP6500_EA_GTC=412,1760,2120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001136018.2:intron,NM_000120.3:intron;ESP6500_GL=EPHX1;ESP6500_GRCh38_POSITION=1:225828680;ESP6500_GTC=536,2536,3420;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001136018.2:c.-50G>A,NM_000120.3:c.-50G>A;ESP6500_MAF=30.1025,23.2727,27.788;ESP6500_TAC=3608,9376	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,11:16:99:0|1:225828680_G_A:447,0,259
chr1	225828696	rs41266231	G	A	549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.52;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.91;ReadPosRankSum=-0.183;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41266231;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|1/8|c.-5-29G>A||||||,A|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|1/8|c.-5-29G>A||||||,A|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|1/8|c.-5-29G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1233;p3_1000G_AF=0.246206;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=9586;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.325;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226016397;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1204,3194;ESP6500_AA_GTC=175,854,1170;ESP6500_CDS_SIZES=NM_001136018.2:1368,NM_000120.3:1368;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=23;ESP6500_EA_AC=2588,5990;ESP6500_EA_GTC=408,1772,2109;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001136018.2:intron,NM_000120.3:intron;ESP6500_GL=EPHX1;ESP6500_GRCh38_POSITION=1:225828696;ESP6500_GTC=583,2626,3279;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001136018.2:c.-34G>A,NM_000120.3:c.-34G>A;ESP6500_MAF=30.1702,27.3761,29.2232;ESP6500_TAC=3792,9184	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,17:24:99:0|1:225828680_G_A:578,0,296
chr1	225831952	rs1131873;rs2292566	G	A	675.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.639;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=4.546;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-1.694;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1131873;dbSNPBuildID=137;ANN=A|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|3/9|c.357G>A|p.Lys119Lys|606/1831|357/1368|119/455||,A|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|3/9|c.357G>A|p.Lys119Lys|458/1683|357/1368|119/455||,A|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|3/9|c.357G>A|p.Lys119Lys|844/2069|357/1368|119/455||;p3_1000G_AA=G|||;p3_1000G_AC=957;p3_1000G_AF=0.191094;p3_1000G_AFR_AF=0.1165;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=23249;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.162;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226019653;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=643,3763;ESP6500_AA_AGE=275.7+/-272.7;ESP6500_AA_GTC=50,543,1610;ESP6500_CDS_SIZES=NM_001136018.2:1368,NM_000120.3:1368;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=1236,7364;ESP6500_EA_AGE=247.8+/-275.7;ESP6500_EA_GTC=82,1072,3146;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001136018.2:coding-synonymous,NM_000120.3:coding-synonymous;ESP6500_GL=EPHX1;ESP6500_GRCh38_POSITION=1:225831952;ESP6500_GTC=132,1615,4756;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001136018.2:c.357G>A,NM_000120.3:c.357G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001136018.2:p.(K119),NM_000120.3:p.(K119);ESP6500_MAF=14.3721,14.5937,14.4472;ESP6500_TAC=1879,11127	GT:AD:DP:GQ:PL	0/1:19,26:45:99:704,0,559
chr1	225838525	rs79860830	A	G	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.94;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.737;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.53;ReadPosRankSum=-0.813;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79860830;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|3/8|c.365-129A>G||||||,G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|3/8|c.365-129A>G||||||,G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|3/8|c.365-129A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=90;p3_1000G_AF=0.0179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17191;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226026226;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,16:22:99:480,0,146
chr1	225838540	rs4149223	C	G	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.522;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.395;SOR=1.414;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4149223;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|3/8|c.365-114C>G||||||,G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|3/8|c.365-114C>G||||||,G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|3/8|c.365-114C>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=2490;p3_1000G_AF=0.497204;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=16263;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226026241;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,10:31:99:336,0,680
chr1	225839366	rs1491173274	GGT	G	242.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.022;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=-0.108;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|5/8|c.722+55_722+56delGT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|5/8|c.722+55_722+56delGT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|5/8|c.722+55_722+56delGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:2,5:7:91:280,150,212
chr1	225839366	.	GGT	GGTGTGTGTGTGT	242.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.022;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=-0.108;SOR=0.368;INS;HET;VARTYPE=INS;ANN=GGTGTGTGTGTGT|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|5/8|c.722+47_722+56dupGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,GGTGTGTGTGTGT|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|5/8|c.722+47_722+56dupGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,GGTGTGTGTGTGT|intron_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|5/8|c.722+47_722+56dupGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,5:7:91:280,91,277
chr1	225839958	rs2292568	C	T	585.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.429;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.107;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.059;SOR=0.451;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292568;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|6/9|c.852C>T|p.Pro284Pro|1101/1831|852/1368|284/455||,T|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|6/9|c.852C>T|p.Pro284Pro|953/1683|852/1368|284/455||,T|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|6/9|c.852C>T|p.Pro284Pro|1339/2069|852/1368|284/455||;p3_1000G_AA=C|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.0227;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=18608;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226027659;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=106,4300;ESP6500_AA_AGE=84.4+/-122.9;ESP6500_AA_GTC=0,106,2097;ESP6500_CDS_SIZES=NM_001136018.2:1368,NM_000120.3:1368;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=154;ESP6500_EA_AC=350,8250;ESP6500_EA_AGE=118.3+/-177.8;ESP6500_EA_GTC=3,344,3953;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001136018.2:coding-synonymous,NM_000120.3:coding-synonymous;ESP6500_GL=EPHX1;ESP6500_GRCh38_POSITION=1:225839958;ESP6500_GTC=3,450,6050;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001136018.2:c.852C>T,NM_000120.3:c.852C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001136018.2:p.(P284),NM_000120.3:p.(P284);ESP6500_MAF=4.0698,2.4058,3.5061;ESP6500_TAC=456,12550	GT:AD:DP:GQ:PL	0/1:26,24:50:99:614,0,676
chr1	225845329	rs4149230	G	C	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.653;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.903;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4149230;dbSNPBuildID=110;ANN=C|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding|9/9|c.1350G>C|p.Ser450Ser|1599/1831|1350/1368|450/455||,C|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding|9/9|c.1350G>C|p.Ser450Ser|1451/1683|1350/1368|450/455||,C|synonymous_variant|LOW|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding|9/9|c.1350G>C|p.Ser450Ser|1837/2069|1350/1368|450/455||,C|downstream_gene_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding||c.*1711C>G|||||203|;p3_1000G_AA=G|||;p3_1000G_AC=353;p3_1000G_AF=0.0704872;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=8496;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226033030;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=31,4375;ESP6500_AA_AGE=36.8+/-68.6;ESP6500_AA_GTC=0,31,2172;ESP6500_CDS_SIZES=NM_001136018.2:1368,NM_000120.3:1368;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=32;ESP6500_EA_AC=349,8251;ESP6500_EA_AGE=115.3+/-175.2;ESP6500_EA_GTC=3,343,3954;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001136018.2:coding-synonymous,NM_000120.3:coding-synonymous;ESP6500_GL=EPHX1;ESP6500_GRCh38_POSITION=1:225845329;ESP6500_GTC=3,374,6126;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001136018.2:c.1350G>C,NM_000120.3:c.1350G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001136018.2:p.(S450),NM_000120.3:p.(S450);ESP6500_MAF=4.0581,0.7036,2.9217;ESP6500_TAC=380,12626	GT:AD:DP:GQ:PL	0/1:18,15:33:99:401,0,478
chr1	225847073	rs2292559	C	T	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.497;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.449;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292559;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|24/25|c.2391G>A|p.Thr797Thr|3013/4453|2391/2424|797/807||,T|downstream_gene_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding||c.*1726C>T|||||1512|,T|downstream_gene_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding||c.*1726C>T|||||1512|,T|downstream_gene_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding||c.*1726C>T|||||1512|;p3_1000G_AA=C|||;p3_1000G_AC=353;p3_1000G_AF=0.0704872;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=18801;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226034774;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=32,4372;ESP6500_AA_AGE=36.8+/-68.6;ESP6500_AA_GTC=0,32,2170;ESP6500_CDS_SIZES=NM_014698.2:2424;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=349,8251;ESP6500_EA_AGE=114.8+/-174.7;ESP6500_EA_GTC=4,341,3955;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014698.2:coding-synonymous;ESP6500_GL=TMEM63A;ESP6500_GRCh38_POSITION=1:225847073;ESP6500_GTC=4,373,6125;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014698.2:c.2391G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014698.2:p.(T797);ESP6500_MAF=4.0581,0.7266,2.9299;ESP6500_TAC=381,12623	GT:AD:DP:GQ:PL	0/1:15,13:28:99:334,0,446
chr1	225848608	rs360063	A	G	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.48;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=0.431;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs360063;dbSNPBuildID=79;ANN=G|downstream_gene_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_000120.3|protein_coding||c.*3261A>G|||||3047|,G|downstream_gene_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001136018.3|protein_coding||c.*3261A>G|||||3047|,G|downstream_gene_variant|MODIFIER|EPHX1|EPHX1|transcript|NM_001291163.1|protein_coding||c.*3261A>G|||||3047|,G|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|22/24|c.2188-54T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3481;p3_1000G_AF=0.695088;p3_1000G_AFR_AF=0.826;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=18248;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.5765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226036309;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1064,320;ESP6500_AA_GTC=399,266,27;ESP6500_CDS_SIZES=NM_014698.2:2424;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=62;ESP6500_EA_AC=1941,1241;ESP6500_EA_GTC=579,783,229;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014698.2:intron;ESP6500_GL=TMEM63A;ESP6500_GRCh38_POSITION=1:225848608;ESP6500_GTC=978,1049,256;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014698.2:c.2188-54T>C;ESP6500_MAF=39.0006,23.1214,34.1875;ESP6500_TAC=3005,1561	GT:AD:DP:GQ:PL	0/1:6,3:9:65:65,0,147
chr1	225853737	rs2292556	C	T	574.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.214;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=4.288;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.512;SOR=0.428;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292556;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|19/25|c.1689G>A|p.Ser563Ser|2311/4453|1689/2424|563/807||;p3_1000G_AA=C|||;p3_1000G_AC=344;p3_1000G_AF=0.0686901;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=20098;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226041438;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=43,4363;ESP6500_AA_AGE=43.1+/-76.7;ESP6500_AA_GTC=0,43,2160;ESP6500_CDS_SIZES=NM_014698.2:2424;ESP6500_CG=-4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=349,8249;ESP6500_EA_AGE=110.2+/-170.6;ESP6500_EA_GTC=3,343,3953;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014698.2:coding-synonymous;ESP6500_GL=TMEM63A;ESP6500_GRCh38_POSITION=1:225853737;ESP6500_GTC=3,386,6113;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014698.2:c.1689G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014698.2:p.(S563);ESP6500_MAF=4.0591,0.9759,3.0145;ESP6500_TAC=392,12612	GT:AD:DP:GQ:PL	0/1:22,23:45:99:603,0,539
chr1	225856800	rs3215220;rs796248921	GC	G	169.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.597;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=0;SOR=1.112;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3215220;dbSNPBuildID=106,146;ANN=G|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|16/24|c.1485-63delG||||||;p3_1000G_AA=CCCC|CCCC|CCC|deletion;p3_1000G_AC=340;p3_1000G_AF=0.0678914;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=19527;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226044500;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:15,8:23:99:207,0,435
chr1	225856891	rs2292560	C	T	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.565;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=1.29;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292560;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|16/24|c.1484+20G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=351;p3_1000G_AF=0.0700879;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=18067;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226044591;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=43,4363;ESP6500_AA_AGE=46.7+/-81.2;ESP6500_AA_GTC=1,41,2161;ESP6500_CDS_SIZES=NM_014698.2:2424;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=30;ESP6500_EA_AC=428,8172;ESP6500_EA_AGE=130.2+/-188.1;ESP6500_EA_GTC=7,414,3879;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014698.2:intron;ESP6500_GL=TMEM63A;ESP6500_GRCh38_POSITION=1:225856891;ESP6500_GTC=8,455,6040;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014698.2:c.1484+20G>A;ESP6500_MAF=4.9767,0.9759,3.6214;ESP6500_TAC=471,12535	GT:AD:DP:GQ:PL	0/1:21,14:35:99:301,0,606
chr1	225859274	rs2292561	T	C	1665.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.51;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0.781;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.346;SOR=0.832;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292561;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|15/25|c.1299A>G|p.Leu433Leu|1921/4453|1299/2424|433/807||;p3_1000G_AA=C|||;p3_1000G_AC=548;p3_1000G_AF=0.109425;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=17585;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226046974;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=628,3778;ESP6500_AA_AGE=767.6+/-413.5;ESP6500_AA_GTC=44,540,1619;ESP6500_CDS_SIZES=NM_014698.2:2424;ESP6500_CG=-4.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=122;ESP6500_EA_AC=354,8246;ESP6500_EA_AGE=803.7+/-407.3;ESP6500_EA_GTC=3,348,3949;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014698.2:coding-synonymous;ESP6500_GL=TMEM63A;ESP6500_GRCh38_POSITION=1:225859274;ESP6500_GTC=47,888,5568;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014698.2:c.1299A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014698.2:p.(L433);ESP6500_MAF=4.1163,14.2533,7.5504;ESP6500_TAC=982,12024	GT:AD:DP:GQ:PL	0/1:38,59:97:99:1694,0,843
chr1	225861044	rs3215221;rs34700682	CA	C	320.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.467;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.82;ReadPosRankSum=0.045;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34700682;dbSNPBuildID=126,130;ANN=C|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|13/24|c.1086-48delT||||||;p3_1000G_AA=AC|AA|A|complex_deletion;p3_1000G_AC=1554;p3_1000G_AF=0.310304;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=23789;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226048744;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=INDEL;ESP6500_AA_AC=1025,3241;ESP6500_AA_GTC=117,791,1225;ESP6500_CDS_SIZES=NM_014698.2:2424;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=55;ESP6500_EA_AC=3243,5011;ESP6500_EA_GTC=639,1965,1523;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014698.2:intron;ESP6500_GL=TMEM63A;ESP6500_GRCh38_POSITION=1:225861044;ESP6500_GTC=756,2756,2748;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014698.2:c.1086-48del1;ESP6500_MAF=39.29,24.0272,34.0895;ESP6500_TAC=4268,8252	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,11:18:99:0|1:225861044_CA_C:358,0,229
chr1	225861046	rs74150534	A	C	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.212;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3215221,rs74150534;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|13/24|c.1086-49T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=547;p3_1000G_AF=0.109225;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=23360;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226048746;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,7:18:99:1|0:225861044_CA_C:183,0,391
chr1	225862209	rs74150536	T	C	628.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.662;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=6.873;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.67;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74150536;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|13/24|c.1085+9A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=544;p3_1000G_AF=0.108626;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=20799;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226049909;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=618,3788;ESP6500_AA_AGE=768.4+/-413.6;ESP6500_AA_GTC=44,530,1629;ESP6500_CDS_SIZES=NM_014698.2:2424;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=85;ESP6500_EA_AC=354,8246;ESP6500_EA_AGE=803.6+/-407.3;ESP6500_EA_GTC=3,348,3949;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014698.2:intron;ESP6500_GL=TMEM63A;ESP6500_GRCh38_POSITION=1:225862209;ESP6500_GTC=47,878,5578;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014698.2:c.1085+9A>G;ESP6500_MAF=4.1163,14.0263,7.4735;ESP6500_TAC=972,12034	GT:AD:DP:GQ:PL	0/1:32,25:57:99:657,0,934
chr1	225862978	rs74229306	G	A	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.138;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=-0.737;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74229306;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|10/24|c.747-127C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=349;p3_1000G_AF=0.0696885;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=19596;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226050678;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:378,0,224
chr1	225866956	rs360084	G	A	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.398;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.71;ReadPosRankSum=0.685;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs360084;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|8/24|c.566+156C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4301;p3_1000G_AF=0.858826;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=19421;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226054656;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:167,0,364
chr1	225866981	rs360085	T	A	602.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs360085;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|8/24|c.566+131A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4846;p3_1000G_AF=0.967652;p3_1000G_AFR_AF=0.9312;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=18686;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226054681;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:631,57,0
chr1	225874256	rs2271544	G	A	553.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.958;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.588;SOR=0.524;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271544;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding|4/24|c.266+32C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=337;p3_1000G_AF=0.0672923;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=22731;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226061956;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=30,4376;ESP6500_AA_AGE=37.6+/-69.7;ESP6500_AA_GTC=0,30,2173;ESP6500_CDS_SIZES=NM_014698.2:2424;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=105;ESP6500_EA_AC=350,8250;ESP6500_EA_AGE=118.3+/-177.8;ESP6500_EA_GTC=3,344,3953;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014698.2:intron;ESP6500_GL=TMEM63A;ESP6500_GRCh38_POSITION=1:225874256;ESP6500_GTC=3,374,6126;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014698.2:c.266+32C>T;ESP6500_MAF=4.0698,0.6809,2.9217;ESP6500_TAC=380,12626	GT:AD:DP:GQ:PL	0/1:20,23:43:99:582,0,503
chr1	225886673	rs3766941	C	A	1074.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.502;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=5.498;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.672;SOR=1.363;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3766941;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|LEFTY1|LEFTY1|transcript|NM_020997.3|protein_coding|4/4|c.*54G>T|||||54|,A|upstream_gene_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding||c.-9093G>T|||||3953|;p3_1000G_AA=A|||;p3_1000G_AC=817;p3_1000G_AF=0.163139;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=19835;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.0517;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226074373;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1103,0,1189
chr1	225887285	rs2236143	T	C	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.877;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=5.614;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.582;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236143;dbSNPBuildID=98;ANN=C|upstream_gene_variant|MODIFIER|TMEM63A|TMEM63A|transcript|NM_014698.2|protein_coding||c.-9705A>G|||||4565|,C|intron_variant|MODIFIER|LEFTY1|LEFTY1|transcript|NM_020997.3|protein_coding|3/3|c.737+114A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=814;p3_1000G_AF=0.16254;p3_1000G_AFR_AF=0.2753;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=19977;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.0517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226074985;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:296,0,229
chr1	225887773	rs77296604	C	G	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.857;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=6.262;MLEAC=1;MLEAF=0.5;MQ=58.73;MQRankSum=-1.335;QD=14.84;ReadPosRankSum=2.14;SOR=2.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77296604;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|LEFTY1|LEFTY1|transcript|NM_020997.3|protein_coding|2/3|c.497+13G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=816;p3_1000G_AF=0.162939;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=7596;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.0517;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226075473;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,14:27:99:429,0,412
chr1	225887858	rs191758097	C	T	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.916;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.964;MLEAC=1;MLEAF=0.5;MQ=51.16;MQRankSum=-1.077;QD=4.51;ReadPosRankSum=-0.748;SOR=1.108;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs191758097;dbSNPBuildID=135;ANN=T|missense_variant|MODERATE|LEFTY1|LEFTY1|transcript|NM_020997.3|protein_coding|2/4|c.425G>A|p.Arg142Gln|505/1626|425/1101|142/366||;p3_1000G_AA=C|||;p3_1000G_AC=849;p3_1000G_AF=0.169529;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=8395;p3_1000G_EAS_AF=0.2361;p3_1000G_EUR_AF=0.0507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226075558;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:114,0,362
chr1	225887908	rs12753531	G	A	412.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.723;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.197;MLEAC=1;MLEAF=0.5;MQ=48.81;MQRankSum=2.89;QD=20.65;ReadPosRankSum=-0.759;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12753531;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|LEFTY1|LEFTY1|transcript|NM_020997.3|protein_coding|2/4|c.375C>T|p.Val125Val|455/1626|375/1101|125/366||;p3_1000G_AA=G|||;p3_1000G_AC=803;p3_1000G_AF=0.160343;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=10390;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0.2674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226075608;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,18:20:15:441,0,15
chr1	225888969	rs41310561	C	T	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.278;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.287;SOR=0.732;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41310561;dbSNPBuildID=127;ANN=T|missense_variant|MODERATE|LEFTY1|LEFTY1|transcript|NM_020997.3|protein_coding|1/4|c.98G>A|p.Arg33Gln|178/1626|98/1101|33/366||;p3_1000G_AA=C|||;p3_1000G_AC=328;p3_1000G_AF=0.0654952;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=15639;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226076669;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=29,4257;ESP6500_AA_GTC=0,29,2114;ESP6500_CDS_SIZES=NM_020997.3:1101;ESP6500_CG=-5.9;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=12;ESP6500_EA_AC=348,8060;ESP6500_EA_GTC=8,332,3864;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020997.3:missense;ESP6500_GL=LEFTY1;ESP6500_GRCh38_POSITION=1:225888969;ESP6500_GS=43;ESP6500_GTC=8,361,5978;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020997.3:c.98G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020997.3:p.(R33Q);ESP6500_MAF=4.1389,0.6766,2.9699;ESP6500_PH=benign:0.001;ESP6500_TAC=377,12317	GT:AD:DP:GQ:PL	0/1:17,11:28:99:255,0,418
chr1	225921194	rs10915897	C	T	527.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.786;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.175;SOR=0.931;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10915897;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|MIR6741|MIR6741|transcript|NR_106799.1|pseudogene||n.*886G>A|||||886|,T|intron_variant|MODIFIER|PYCR2|PYCR2|transcript|NM_013328.3|protein_coding|6/6|c.797+14G>A||||||,T|intron_variant|MODIFIER|PYCR2|PYCR2|transcript|NM_001271681.1|protein_coding|5/5|c.575+14G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1201;p3_1000G_AF=0.239816;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=19689;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226108894;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=897,3509;ESP6500_AA_AGE=347.7+/-309.6;ESP6500_AA_GTC=97,703,1403;ESP6500_CDS_SIZES=NM_013328.2:963;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=57;ESP6500_EA_AC=1197,7403;ESP6500_EA_AGE=242.5+/-272.5;ESP6500_EA_GTC=82,1033,3185;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013328.2:intron;ESP6500_GL=PYCR2;ESP6500_GRCh38_POSITION=1:225921194;ESP6500_GTC=179,1736,4588;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_013328.2:c.797+14G>A;ESP6500_MAF=13.9186,20.3586,16.1003;ESP6500_TAC=2094,10912	GT:AD:DP:GQ:PL	0/1:17,23:40:99:556,0,420
chr1	225924018	rs138311498;rs3830909	G	GCCGCCTC	387.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.093;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=1.987;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.23;ReadPosRankSum=0.051;SOR=0.307;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3830909,rs138311498;dbSNPBuildID=134,107;ANN=GCCGCCTC|upstream_gene_variant|MODIFIER|MIR6741|MIR6741|transcript|NR_106799.1|pseudogene||n.-1883_-1877dupGAGGCGG|||||1877|,GCCGCCTC|intron_variant|MODIFIER|PYCR2|PYCR2|transcript|NM_013328.3|protein_coding|1/6|c.67+19_67+25dupGAGGCGG||||||,GCCGCCTC|intron_variant|MODIFIER|PYCR2|PYCR2|transcript|NM_001271681.1|protein_coding|1/5|c.67+19_67+25dupGAGGCGG||||||;p3_1000G_AC=445;p3_1000G_AF=0.0888578;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=12635;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.0368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226111718;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=INDEL;ESP6500_AA_AC=15,2767;ESP6500_AA_GTC=4,7,1380;ESP6500_CDS_SIZES=NM_013328.2:963;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=4;ESP6500_EA_AC=107,5869;ESP6500_EA_GTC=23,61,2904;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013328.2:intron;ESP6500_GL=PYCR2;ESP6500_GRCh38_POSITION=1:225924018;ESP6500_GTC=27,68,4284;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_013328.2:c.67+25_67+26insGAGGCGG;ESP6500_MAF=1.7905,0.5392,1.393;ESP6500_TAC=122,8636	GT:AD:DP:GQ:PL	0/1:7,9:16:99:425,0,526
chr1	225924237	rs11543045	G	C	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.91;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.06;ReadPosRankSum=0.863;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11543045;dbSNPBuildID=120;ANN=C|5_prime_UTR_variant|MODIFIER|PYCR2|PYCR2|transcript|NM_013328.3|protein_coding|1/7|c.-127C>G|||||127|,C|5_prime_UTR_variant|MODIFIER|PYCR2|PYCR2|transcript|NM_001271681.1|protein_coding|1/6|c.-127C>G|||||127|,C|upstream_gene_variant|MODIFIER|MIR6741|MIR6741|transcript|NR_106799.1|pseudogene||n.-2095C>G|||||2095|;p3_1000G_AA=G|||;p3_1000G_AC=86;p3_1000G_AF=0.0171725;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12229;p3_1000G_EAS_AF=0.0853;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226111937;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:98:305,0,98
chr1	225937843	rs397691660;rs60825997;~rs60825997	G	GA	596.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.66;QD=32.55;SOR=2.712;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs60825997;dbSNPBuildID=132,138;ANN=GA|intron_variant|MODIFIER|LEFTY2|LEFTY2|transcript|NM_003240.4|protein_coding|3/3|c.738-40dupT||||||,GA|intron_variant|MODIFIER|LEFTY2|LEFTY2|transcript|NM_001172425.2|protein_coding|4/4|c.636-40dupT||||||;p3_1000G_AA=AA|A|AA|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17307;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226125543;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4236,28;ESP6500_AA_GTC=2105,26,1;ESP6500_CDS_SIZES=NM_003240.3:1101,NM_001172425.1:999;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=11;ESP6500_EA_AC=8216,32;ESP6500_EA_GTC=4093,30,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003240.3:intron,NM_001172425.1:intron;ESP6500_GL=LEFTY2;ESP6500_GRCh38_POSITION=1:225937843;ESP6500_GTC=6198,56,2;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003240.3:c.738-40_738-39insT,NM_001172425.1:c.636-40_636-39insT;ESP6500_MAF=0.388,0.6567,0.4795;ESP6500_TAC=12452,60	GT:AD:DP:GQ:PL	1/1:0,17:17:51:634,51,0
chr1	225940046	rs428237	C	G	12.99	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.02;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.3;MQRankSum=-2.885;QD=0.54;ReadPosRankSum=-0.054;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs428237;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|LEFTY2|LEFTY2|transcript|NM_003240.4|protein_coding|1/3|c.251-44G>C||||||,G|intron_variant|MODIFIER|LEFTY2|LEFTY2|transcript|NM_001172425.2|protein_coding|1/4|c.251-44G>C||||||	GT:AD:DP:GQ:PL	0/1:21,3:24:41:41,0,601
chr1	225940089	rs201495449	C	T	34.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.769;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.47;MQRankSum=-2.976;QD=1.74;ReadPosRankSum=-0.331;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201495449;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|LEFTY2|LEFTY2|transcript|NM_003240.4|protein_coding|1/3|c.251-87G>A||||||,T|intron_variant|MODIFIER|LEFTY2|LEFTY2|transcript|NM_001172425.2|protein_coding|1/4|c.251-87G>A||||||	GT:AD:DP:GQ:PL	0/1:16,4:20:63:63,0,476
chr1	225940141	rs199816744	T	C	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.35;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.48;MQRankSum=-2.173;QD=0.85;ReadPosRankSum=1.49;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199816744;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|LEFTY2|LEFTY2|transcript|NM_003240.4|protein_coding|1/3|c.251-139A>G||||||,C|intron_variant|MODIFIER|LEFTY2|LEFTY2|transcript|NM_001172425.2|protein_coding|1/4|c.251-139A>G||||||	GT:AD:DP:GQ:PL	0/1:10,2:12:38:38,0,313
chr1	225991315	.	T	C	1109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=7.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.837;SOR=0.758;SNP;HET;VARTYPE=SNP;ANN=C|missense_variant|MODERATE|SDE2|SDE2|transcript|NM_152608.3|protein_coding|5/7|c.569A>G|p.Asn190Ser|622/4009|569/1356|190/451||	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1138,0,733
chr1	226064531	rs2036870	C	T	299.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.98;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2036870;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|H3F3A|H3F3A|transcript|NM_002107.4|protein_coding|2/3|c.128+52C>T||||||,T|intron_variant|MODIFIER|H3F3AP4|H3F3AP4|transcript|NR_002315.1|pseudogene|2/3|n.236+52C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4921;p3_1000G_AF=0.982628;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=16691;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226252232;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2400,148;ESP6500_AA_GTC=1130,140,4;ESP6500_CDS_SIZES=NM_002107.4:411;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=18;ESP6500_EA_AC=4528,0;ESP6500_EA_GTC=2264,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002107.4:intron;ESP6500_GL=H3F3A;ESP6500_GRCh38_POSITION=1:226064531;ESP6500_GTC=3394,140,4;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002107.4:c.128+52C>T;ESP6500_MAF=0.0,5.8085,2.0916;ESP6500_TAC=6928,148	GT:AD:DP:GQ:PL	1/1:0,12:12:36:328,36,0
chr1	226065426	rs1511056	T	G	79.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1511056;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|H3F3A|H3F3A|transcript|NM_002107.4|protein_coding|2/3|c.129-230T>G||||||,G|intron_variant|MODIFIER|H3F3AP4|H3F3AP4|transcript|NR_002315.1|pseudogene|2/3|n.237-230T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4884;p3_1000G_AF=0.97524;p3_1000G_AFR_AF=0.913;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=18180;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226253127;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:107,9,0
chr1	226065615	rs1849032	G	T	943.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1849032;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|H3F3A|H3F3A|transcript|NM_002107.4|protein_coding|2/3|c.129-41G>T||||||,T|intron_variant|MODIFIER|H3F3AP4|H3F3AP4|transcript|NR_002315.1|pseudogene|2/3|n.237-41G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4921;p3_1000G_AF=0.982628;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=17605;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226253316;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4140,266;ESP6500_AA_AGE=138.8+/-174.5;ESP6500_AA_GTC=1942,256,5;ESP6500_CDS_SIZES=NM_002107.4:411;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=47;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002107.4:intron;ESP6500_GL=H3F3A;ESP6500_GRCh38_POSITION=1:226065615;ESP6500_GTC=6239,259,5;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002107.4:c.129-41G>T;ESP6500_MAF=0.0349,6.0372,2.0683;ESP6500_TAC=12737,269	GT:AD:DP:GQ:PL	1/1:0,34:34:99:972,102,0
chr1	226146877	rs1219666	G	A	677.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1219666;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|ACBD3|ACBD3|transcript|NM_022735.3|protein_coding|7/7|c.1376-56C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=22361;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226334578;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:706,57,0
chr1	226223616	rs10915962	C	T	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.341;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.15;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10915962;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|MIXL1|MIXL1|transcript|NM_001282402.1|protein_coding||c.-66C>T|||||2|,T|upstream_gene_variant|MODIFIER|MIXL1|MIXL1|transcript|NM_031944.2|protein_coding||c.-66C>T|||||2|,T|intergenic_region|MODIFIER|ACBD3-MIXL1|ACBD3-MIXL1|intergenic_region|ACBD3-MIXL1|||n.226223616C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3096;p3_1000G_AF=0.618211;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=7343;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226411317;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,2:12:40:40,0,318
chr1	226250748	rs6678137	T	C	190.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6678137;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_173083.3|protein_coding|11/14|c.1167+91A>G||||||,C|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_001270409.1|protein_coding|10/13|c.1062+91A>G||||||,C|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_001270410.1|protein_coding|11/14|c.963+91A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4300;p3_1000G_AF=0.858626;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=17455;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.8678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226438449;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:219,18,0
chr1	226286431	rs10799347	G	A	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=-2.007;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10799347;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|LIN9|LIN9|transcript|NM_173083.3|protein_coding|6/15|c.474C>T|p.Phe158Phe|790/3345|474/1677|158/558||,A|synonymous_variant|LOW|LIN9|LIN9|transcript|NM_001270409.1|protein_coding|5/14|c.369C>T|p.Phe123Phe|685/3240|369/1572|123/523||,A|synonymous_variant|LOW|LIN9|LIN9|transcript|NM_001270410.1|protein_coding|6/15|c.270C>T|p.Phe90Phe|518/3073|270/1473|90/490||;p3_1000G_AA=G|||;p3_1000G_AC=3543;p3_1000G_AF=0.707468;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=17002;p3_1000G_EAS_AF=0.745;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226474132;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3263,1141;ESP6500_AA_AGE=706.0+/-407.3;ESP6500_AA_GTC=1196,871,135;ESP6500_CDS_SIZES=NM_173083.3:1677,NM_001270410.1:1473,NM_001270409.1:1572;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=62;ESP6500_EA_AC=5897,2699;ESP6500_EA_AGE=678.4+/-403.5;ESP6500_EA_GTC=2018,1861,419;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173083.3:coding-synonymous,NM_001270410.1:coding-synonymous,NM_001270409.1:coding-synonymous;ESP6500_GL=LIN9;ESP6500_GRCh38_POSITION=1:226286431;ESP6500_GTC=3214,2732,554;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173083.3:c.474C>T,NM_001270410.1:c.270C>T,NM_001270409.1:c.369C>T;ESP6500_HGVS_PROTEIN_VAR=NM_173083.3:p.(F158),NM_001270410.1:p.(F90),NM_001270409.1:p.(F123);ESP6500_MAF=31.3983,25.9083,29.5385;ESP6500_TAC=9160,3840	GT:AD:DP:GQ:PL	0/1:19,8:27:99:173,0,425
chr1	226297626	rs11390947;rs11397221	A	AT	69.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.719;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=1.65;SOR=1.445;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11390947,rs11397221;dbSNPBuildID=130,126;ANN=AT|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_173083.3|protein_coding|3/14|c.207+92dupA||||||,AT|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_001270409.1|protein_coding|3/13|c.207+92dupA||||||,AT|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_001270410.1|protein_coding|3/14|c.3+92dupA||||||;p3_1000G_AA=TTTTTT|TTTTTT|TTTTTTT|insertion;p3_1000G_AC=3168;p3_1000G_AF=0.632588;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=15335;p3_1000G_EAS_AF=0.7123;p3_1000G_EUR_AF=0.6819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226485327;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:11,5:16:99:107,0,287
chr1	226301125	rs11577454	A	G	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.78;ReadPosRankSum=-0.21;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11577454;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_173083.3|protein_coding|2/14|c.112+48T>C||||||,G|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_001270409.1|protein_coding|2/13|c.112+48T>C||||||,G|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_001270410.1|protein_coding|2/14|c.-93+48T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1191;p3_1000G_AF=0.237819;p3_1000G_AFR_AF=0.149;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=15245;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.2893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226488826;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=655,3747;ESP6500_AA_AGE=743.3+/-411.4;ESP6500_AA_GTC=44,567,1590;ESP6500_CDS_SIZES=NM_173083.3:1677,NM_001270410.1:1473,NM_001270409.1:1572;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=2290,6288;ESP6500_EA_AGE=692.4+/-404.6;ESP6500_EA_GTC=304,1682,2303;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173083.3:intron,NM_001270410.1:intron,NM_001270409.1:intron;ESP6500_GL=LIN9;ESP6500_GRCh38_POSITION=1:226301125;ESP6500_GTC=348,2249,3893;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173083.3:c.112+48T>C,NM_001270410.1:c.-3404T>C,NM_001270409.1:c.112+48T>C;ESP6500_MAF=26.6962,14.8796,22.6888;ESP6500_TAC=2945,10035	GT:AD:DP:GQ:PL	0/1:7,3:10:86:86,0,139
chr1	226308968	rs75017829	G	A	93.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.967;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75017829;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_173083.3|protein_coding|1/14|c.79+141C>T||||||,A|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_001270409.1|protein_coding|1/13|c.79+141C>T||||||,A|intron_variant|MODIFIER|LIN9|LIN9|transcript|NM_001270410.1|protein_coding|1/14|c.-126+658C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=117;p3_1000G_AF=0.0233626;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=10205;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226496669;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:64:122,0,64
chr1	226363223	rs747657	G	C	347.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-1.068;SOR=0.519;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs747657;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|20/22|c.2787-63C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2437;p3_1000G_AF=0.486621;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=19870;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.6759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226550924;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=647,737;ESP6500_AA_GTC=150,347,195;ESP6500_CDS_SIZES=NM_001618.3:3045;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=2108,1074;ESP6500_EA_GTC=694,720,177;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001618.3:intron;ESP6500_GL=PARP1;ESP6500_GRCh38_POSITION=1:226363223;ESP6500_GTC=844,1067,372;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001618.3:c.2787-63C>G;ESP6500_MAF=33.7524,46.7486,39.6627;ESP6500_TAC=2755,1811	GT:AD:DP:GQ:PL	0/1:11,13:24:99:376,0,356
chr1	226363828	rs752307	C	G	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.135;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.39;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs752307;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|20/22|c.2786+115G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3918;p3_1000G_AF=0.782348;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=20501;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.8459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226551529;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:247,0,370
chr1	226367601	rs1136410	A	G	489.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.33;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.09;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1136410;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|PARP1|PARP1|transcript|NM_001618.3|protein_coding|17/23|c.2285T>C|p.Val762Ala|2456/3985|2285/3045|762/1014||;p3_1000G_AA=A|||;p3_1000G_AC=986;p3_1000G_AF=0.196885;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=22171;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.1541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226555302;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=233,4173;ESP6500_AA_AGE=138.8+/-174.5;ESP6500_AA_GTC=10,213,1980;ESP6500_CDS_SIZES=NM_001618.3:3045;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=98;ESP6500_EA_AC=1371,7229;ESP6500_EA_AGE=267.6+/-287.4;ESP6500_EA_GTC=125,1121,3054;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001618.3:missense;ESP6500_GL=PARP1;ESP6500_GRCh38_POSITION=1:226367601;ESP6500_GS=64;ESP6500_GTC=135,1334,5034;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001618.3:c.2285T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001618.3:p.(V762A);ESP6500_MAF=15.9419,5.2882,12.3328;ESP6500_PH=possibly-damaging:0.728;ESP6500_TAC=1604,11402	GT:AD:DP:GQ:PL	0/1:16,19:35:99:518,0,359
chr1	226368136	rs1805413	G	A	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.501;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.57;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805413;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|16/22|c.2277+63C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=20699;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226555837;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,19:32:99:521,0,342
chr1	226368393	rs1805400	T	C	572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.18;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1805400;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|15/22|c.2155-72A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4940;p3_1000G_AF=0.986422;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18042;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226556094;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:601,45,0
chr1	226379025	rs907190	A	C	570.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.5;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.14;ReadPosRankSum=-1.564;SOR=0.468;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs907190;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|12/22|c.1745+117T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3712;p3_1000G_AF=0.741214;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=18735;p3_1000G_EAS_AF=0.5179;p3_1000G_EUR_AF=0.8459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226566726;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8098;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,17:27:99:599,0,257
chr1	226379532	rs752344346	G	A	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.341;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=4.598;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.315;SOR=1.221;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|11/22|c.1612+41C>T||||||	GT:AD:DP:GQ:PL	0/1:9,9:18:99:244,0,285
chr1	226383139	rs1805415	T	C	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=-1.15;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805415;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|PARP1|PARP1|transcript|NM_001618.3|protein_coding|8/23|c.1056A>G|p.Lys352Lys|1227/3985|1056/3045|352/1014||;p3_1000G_AA=C|||;p3_1000G_AC=3953;p3_1000G_AF=0.789337;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=15584;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.8459;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226570840;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3955,451;ESP6500_AA_AGE=213.8+/-233.3;ESP6500_AA_GTC=1776,403,24;ESP6500_CDS_SIZES=NM_001618.3:3045;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=134;ESP6500_EA_AC=7231,1369;ESP6500_EA_AGE=262.8+/-284.6;ESP6500_EA_GTC=3056,1119,125;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001618.3:coding-synonymous;ESP6500_GL=PARP1;ESP6500_GRCh38_POSITION=1:226383139;ESP6500_GTC=4832,1522,149;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001618.3:c.1056A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001618.3:p.(K352);ESP6500_MAF=15.9186,10.236,13.9935;ESP6500_TAC=11186,1820	GT:AD:DP:GQ:PL	0/1:6,2:8:62:62,0,143
chr1	226385663	rs1805414	A	G	631.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.061;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.716;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.975;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805414;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|PARP1|PARP1|transcript|NM_001618.3|protein_coding|7/23|c.852T>C|p.Ala284Ala|1023/3985|852/3045|284/1014||;p3_1000G_AA=G|||;p3_1000G_AC=2587;p3_1000G_AF=0.516573;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=19644;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.329;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226573364;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2366,2040;ESP6500_AA_AGE=564.7+/-381.5;ESP6500_AA_GTC=626,1114,463;ESP6500_CDS_SIZES=NM_001618.3:3045;ESP6500_CG=-4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=75;ESP6500_EA_AC=2937,5663;ESP6500_EA_AGE=668.7+/-402.6;ESP6500_EA_GTC=501,1935,1864;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001618.3:coding-synonymous;ESP6500_GL=PARP1;ESP6500_GRCh38_POSITION=1:226385663;ESP6500_GTC=1127,3049,2327;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001618.3:c.852T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001618.3:p.(A284);ESP6500_MAF=34.1512,46.3005,40.7735;ESP6500_TAC=5303,7703	GT:AD:DP:GQ:PL	0/1:19,25:44:99:660,0,522
chr1	226388569	rs2255403	A	G	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.119;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2255403;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|5/22|c.717+87T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1263;p3_1000G_AF=0.252196;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=20152;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226576270;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,10:30:99:292,0,603
chr1	226390346	rs1805411	G	T	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.05;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-2.386;SOR=1.536;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805411;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|4/22|c.617+64C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1053;p3_1000G_AF=0.210264;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=18876;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226578047;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,18:36:99:515,0,480
chr1	226390398	rs1805403	T	C	1918.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1805403;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|4/22|c.617+12A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=4295;p3_1000G_AF=0.857628;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=18493;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.7734;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226578099;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4113,293;ESP6500_AA_AGE=796.8+/-415.4;ESP6500_AA_GTC=1924,265,14;ESP6500_CDS_SIZES=NM_001618.3:3045;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=47;ESP6500_EA_AC=6595,2005;ESP6500_EA_AGE=721.0+/-406.3;ESP6500_EA_GTC=2518,1559,223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001618.3:intron;ESP6500_GL=PARP1;ESP6500_GRCh38_POSITION=1:226390398;ESP6500_GTC=4442,1824,237;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001618.3:c.617+12A>G;ESP6500_MAF=23.314,6.65,17.6688;ESP6500_TAC=10708,2298	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1947,168,0
chr1	226402008	rs2666428	C	T	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.732;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=0.812;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2666428;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|2/22|c.286+206G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2712;p3_1000G_AF=0.541534;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=21038;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.325;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226589709;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:86:86,0,188
chr1	226402257	rs1805404	G	A	971.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.308;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.97;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=1.02;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805404;dbSNPBuildID=92;ANN=A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3OD8:A_13-A_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3OD8:B_13-B_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3OD8:C_13-C_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3OD8:D_13-D_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3OD8:E_13-E_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3OD8:F_13-F_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3OD8:G_13-G_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3OD8:H_13-H_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3ODA:A_13-A_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3ODA:B_13-B_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3ODA:C_13-C_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3ODA:D_13-D_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3ODA:E_13-E_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3ODA:F_13-F_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3ODA:G_13-G_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|structural_interaction_variant|HIGH|PARP1|PARP1|interaction|3ODA:H_13-H_81:NM_001618.3|protein_coding|2/23|c.243C>T||||||,A|synonymous_variant|LOW|PARP1|PARP1|transcript|NM_001618.3|protein_coding|2/23|c.243C>T|p.Asp81Asp|414/3985|243/3045|81/1014||;p3_1000G_AA=G|||;p3_1000G_AC=1093;p3_1000G_AF=0.218251;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=18540;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.1541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226589958;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=553,3853;ESP6500_AA_AGE=250.3+/-257.4;ESP6500_AA_GTC=37,479,1687;ESP6500_CDS_SIZES=NM_001618.3:3045;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=93;ESP6500_EA_AC=1368,7232;ESP6500_EA_AGE=267.2+/-287.2;ESP6500_EA_GTC=124,1120,3056;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001618.3:coding-synonymous;ESP6500_GL=PARP1;ESP6500_GRCh38_POSITION=1:226402257;ESP6500_GTC=161,1599,4743;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001618.3:c.243C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001618.3:p.(D81);ESP6500_MAF=15.907,12.5511,14.7701;ESP6500_TAC=1921,11085	GT:AD:DP:GQ:PL	0/1:26,38:64:99:1000,0,693
chr1	226407946	rs907187	C	G	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.152;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.727;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs907187;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|PARP1|PARP1|transcript|NM_001618.3|protein_coding|1/23|c.-17G>C|||||17|;p3_1000G_AA=C|||;p3_1000G_AC=997;p3_1000G_AF=0.199081;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=9598;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226595647;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=218,4186;ESP6500_AA_GTC=7,204,1991;ESP6500_CDS_SIZES=NM_001618.3:3045;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=25;ESP6500_EA_AC=1330,7264;ESP6500_EA_GTC=116,1098,3083;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001618.3:utr-5;ESP6500_GL=PARP1;ESP6500_GRCh38_POSITION=1:226407946;ESP6500_GTC=123,1302,5074;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001618.3:c.-17G>C;ESP6500_MAF=15.4759,4.95,11.9095;ESP6500_TAC=1548,11450	GT:AD:DP:GQ:PL	0/1:18,19:37:99:449,0,433
chr1	226600795	rs116312651	A	C	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.51;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116312651;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|STUM|STUM|transcript|NM_001003665.3|protein_coding|3/3|c.390-1209A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=236;p3_1000G_AF=0.0471246;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=15707;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226788496;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:180,0,153
chr1	226637640	rs2236604	G	A	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.29;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.47;ReadPosRankSum=0.071;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236604;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|ITPKB|ITPKB|transcript|NM_002221.3|protein_coding|7/7|c.2625+39C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=947;p3_1000G_AF=0.189097;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=18535;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226825341;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=883,3523;ESP6500_AA_AGE=341.2+/-306.6;ESP6500_AA_GTC=93,697,1413;ESP6500_CDS_SIZES=NM_002221.3:2841;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=60;ESP6500_EA_AC=1057,7543;ESP6500_EA_AGE=221.6+/-259.0;ESP6500_EA_GTC=65,927,3308;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002221.3:intron;ESP6500_GL=ITPKB;ESP6500_GRCh38_POSITION=1:226637640;ESP6500_GTC=158,1624,4721;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002221.3:c.2625+39C>T;ESP6500_MAF=12.2907,20.0409,14.9162;ESP6500_TAC=1940,11066	GT:AD:DP:GQ:PL	0/1:18,9:27:99:176,0,491
chr1	226648889	rs2298169	A	G	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.951;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.38;ReadPosRankSum=-0.728;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298169;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ITPKB|ITPKB|transcript|NM_002221.3|protein_coding|2/7|c.1933-118T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2731;p3_1000G_AF=0.545327;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=18832;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226836590;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:80:232,0,80
chr1	226735804	rs708776	G	T	1472.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs708776;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|ITPKB|ITPKB|transcript|NM_002221.3|protein_coding|2/8|c.1655C>A|p.Pro552Gln|1995/6162|1655/2841|552/946||,T|sequence_feature|LOW|ITPKB|ITPKB|antibody-mapping:heterologous_protein_expression_evidence|NM_002221.3|protein_coding|2/8|c.1655C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4907;p3_1000G_AF=0.979832;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9553;p3_1000G_AN=5008;p3_1000G_DP=17662;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9423;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226923505;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4368,38;ESP6500_AA_AGE=42.3+/-75.8;ESP6500_AA_GTC=2165,38,0;ESP6500_CDS_SIZES=NM_002221.3:2841;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=45;ESP6500_EA_AC=8102,498;ESP6500_EA_AGE=142.2+/-198.4;ESP6500_EA_GTC=3812,478,10;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002221.3:missense;ESP6500_GL=ITPKB;ESP6500_GRCh38_POSITION=1:226735804;ESP6500_GS=76;ESP6500_GTC=5977,516,10;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002221.3:c.1655C>A;ESP6500_HGVS_PROTEIN_VAR=NM_002221.3:p.(P552Q);ESP6500_MAF=5.7907,0.8625,4.1212;ESP6500_PH=benign:0.0;ESP6500_TAC=12470,536	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1501,129,0
chr1	226736237	rs6667260	A	C	847.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=0.058;SOR=0.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6667260;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|ITPKB|ITPKB|transcript|NM_002221.3|protein_coding|2/8|c.1222T>G|p.Ser408Ala|1562/6162|1222/2841|408/946||;p3_1000G_AA=C|||;p3_1000G_AC=3057;p3_1000G_AF=0.610423;p3_1000G_AFR_AF=0.6067;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=16260;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.5258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226923938;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2536,1860;ESP6500_AA_GTC=729,1078,391;ESP6500_CDS_SIZES=NM_002221.3:2841;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=38;ESP6500_EA_AC=4146,4452;ESP6500_EA_GTC=1040,2066,1193;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002221.3:missense;ESP6500_GL=ITPKB;ESP6500_GRCh38_POSITION=1:226736237;ESP6500_GS=99;ESP6500_GTC=1769,3144,1584;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002221.3:c.1222T>G;ESP6500_HGVS_PROTEIN_VAR=NM_002221.3:p.(S408A);ESP6500_MAF=48.2205,42.3112,48.5763;ESP6500_PH=benign:0.0;ESP6500_TAC=6682,6312	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,27:49:99:0|1:226736227_C_A:876,0,565
chr1	226736941	rs3754415	C	T	1009.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.856;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=7.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.052;SOR=0.208;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754415;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|ITPKB|ITPKB|transcript|NM_002221.3|protein_coding|2/8|c.518G>A|p.Arg173His|858/6162|518/2841|173/946||;p3_1000G_AA=C|||;p3_1000G_AC=1137;p3_1000G_AF=0.227037;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=15203;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.2127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226924642;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=773,3615;ESP6500_AA_GTC=65,643,1486;ESP6500_CDS_SIZES=NM_002221.3:2841;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=1557,7003;ESP6500_EA_GTC=156,1245,2879;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002221.3:missense;ESP6500_GL=ITPKB;ESP6500_GRCh38_POSITION=1:226736941;ESP6500_GS=29;ESP6500_GTC=221,1888,4365;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002221.3:c.518G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002221.3:p.(R173H);ESP6500_MAF=18.1893,17.6162,17.9951;ESP6500_PH=possibly-damaging:0.946;ESP6500_TAC=2330,10618	GT:AD:DP:GQ:PL	0/1:27,41:68:99:1038,0,645
chr1	226880545	.	A	AGACAGCGATCACTCAGCCTCTG	541.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.07;SOR=2.093;INS;HOM;VARTYPE=INS;ANN=AGACAGCGATCACTCAGCCTCTG|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|3/12|c.-20-1289_-20-1268dupCACTCAGCCTCTGGACAGCGAT||||||INFO_REALIGN_3_PRIME,AGACAGCGATCACTCAGCCTCTG|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|3/12|c.-20-1289_-20-1268dupCACTCAGCCTCTGGACAGCGAT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:37:1|1:226880545_A_AGACAGCGATCACTCAGCCTCTG:579,37,0
chr1	226881976	rs11405;256184	T	C	926.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.72;ReadPosRankSum=-0.27;SOR=0.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11405;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|4/13|c.69T>C|p.Ala23Ala|496/2298|69/1347|23/448||,C|synonymous_variant|LOW|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|4/13|c.69T>C|p.Ala23Ala|496/2295|69/1344|23/447||;p3_1000G_AA=C|||;p3_1000G_AC=3684;p3_1000G_AF=0.735623;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=19714;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.8022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227069677;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3606,800;ESP6500_AA_AGE=319.6+/-296.2;ESP6500_AA_GTC=1479,648,76;ESP6500_CDS_SIZES=NM_012486.2:1344,NM_000447.2:1347;ESP6500_CG=-5.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=63;ESP6500_EA_AC=6709,1891;ESP6500_EA_AGE=335.8+/-321.6;ESP6500_EA_GTC=2603,1503,194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012486.2:coding-synonymous,NM_000447.2:coding-synonymous;ESP6500_GL=PSEN2;ESP6500_GRCh38_POSITION=1:226881976;ESP6500_GTC=4082,2151,270;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012486.2:c.69T>C,NM_000447.2:c.69T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012486.2:p.(A23),NM_000447.2:p.(A23);ESP6500_MAF=21.9884,18.1571,20.6905;ESP6500_TAC=10315,2691;CLINVAR_ALLELEID=249746;CLINVAR_CLNDISDB=MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLINVAR_CLNDN=Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.226881976T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3875;CLINVAR_GENEINFO=PSEN2:5664;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11405	GT:AD:DP:GQ:PL	0/1:14,33:47:99:955,0,252
chr1	226882036	rs6759;256180	C	T	463.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.756;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.739;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=-0.187;SOR=0.316;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6759;dbSNPBuildID=102;ANN=T|synonymous_variant|LOW|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|4/13|c.129C>T|p.Asn43Asn|556/2298|129/1347|43/448||,T|synonymous_variant|LOW|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|4/13|c.129C>T|p.Asn43Asn|556/2295|129/1344|43/447||;p3_1000G_AA=C|||;p3_1000G_AC=2220;p3_1000G_AF=0.443291;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=19385;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227069737;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1733,2673;ESP6500_AA_AGE=506.2+/-366.3;ESP6500_AA_GTC=342,1049,812;ESP6500_CDS_SIZES=NM_012486.2:1344,NM_000447.2:1347;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=35;ESP6500_EA_AC=4633,3965;ESP6500_EA_AGE=585.4+/-391.9;ESP6500_EA_GTC=1271,2091,937;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012486.2:coding-synonymous,NM_000447.2:coding-synonymous;ESP6500_GL=PSEN2;ESP6500_GRCh38_POSITION=1:226882036;ESP6500_GTC=1613,3140,1749;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012486.2:c.129C>T,NM_000447.2:c.129C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012486.2:p.(N43),NM_000447.2:p.(N43);ESP6500_MAF=46.1154,39.3327,48.9542;ESP6500_TAC=6366,6638;CLINVAR_AF_ESP=0.4895;CLINVAR_AF_EXAC=0.49948;CLINVAR_AF_TGP=0.4433;CLINVAR_ALLELEID=249747;CLINVAR_CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLINVAR_CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.226882036C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:14650|Illumina_Clinical_Services_Laboratory,Illumina:3889;CLINVAR_GENEINFO=PSEN2:5664;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6759	GT:AD:DP:GQ:PL	0/1:9,19:28:99:492,0,294
chr1	226883663	rs1295643	G	A	1939.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.441;ClippingRankSum=0;DP=146;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.543;SOR=0.689;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1295643;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|4/12|c.142-42G>A||||||,A|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|4/12|c.142-42G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2220;p3_1000G_AF=0.443291;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=15675;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.5934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227071364;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1727,2677;ESP6500_AA_GTC=349,1029,824;ESP6500_CDS_SIZES=NM_012486.2:1344,NM_000447.2:1347;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=17;ESP6500_EA_AC=4623,3973;ESP6500_EA_GTC=1271,2081,946;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012486.2:intron,NM_000447.2:intron;ESP6500_GL=PSEN2;ESP6500_GRCh38_POSITION=1:226883663;ESP6500_GTC=1620,3110,1770;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012486.2:c.142-42G>A,NM_000447.2:c.142-42G>A;ESP6500_MAF=46.2192,39.2144,48.8462;ESP6500_TAC=6350,6650	GT:AD:DP:GQ:PL	0/1:67,79:146:99:1968,0,1630
chr1	226883676	rs1295644	T	C	2027.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=147;ExcessHet=3.0103;FS=1.295;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.065;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1295644;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|4/12|c.142-29T>C||||||,C|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|4/12|c.142-29T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3127;p3_1000G_AF=0.624401;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=15334;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.7982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227071377;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2591,1815;ESP6500_AA_GTC=748,1095,360;ESP6500_CDS_SIZES=NM_012486.2:1344,NM_000447.2:1347;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=21;ESP6500_EA_AC=6665,1935;ESP6500_EA_GTC=2575,1515,210;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012486.2:intron,NM_000447.2:intron;ESP6500_GL=PSEN2;ESP6500_GRCh38_POSITION=1:226883676;ESP6500_GTC=3323,2610,570;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012486.2:c.142-29T>C,NM_000447.2:c.142-29T>C;ESP6500_MAF=22.5,41.1938,28.8328;ESP6500_TAC=9256,3750	GT:AD:DP:GQ:PL	0/1:70,77:147:99:2056,0,1709
chr1	226883824	rs1046240;256181	C	T	1398.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.703;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.03;SOR=0.679;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1046240;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|5/13|c.261C>T|p.His87His|688/2298|261/1347|87/448||,T|synonymous_variant|LOW|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|5/13|c.261C>T|p.His87His|688/2295|261/1344|87/447||;p3_1000G_AA=C|||;p3_1000G_AC=2220;p3_1000G_AF=0.443291;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=14633;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227071525;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1735,2671;ESP6500_AA_AGE=519.3+/-369.9;ESP6500_AA_GTC=342,1051,810;ESP6500_CDS_SIZES=NM_012486.2:1344,NM_000447.2:1347;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=121;ESP6500_EA_AC=4640,3960;ESP6500_EA_AGE=602.1+/-394.5;ESP6500_EA_GTC=1273,2094,933;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012486.2:coding-synonymous,NM_000447.2:coding-synonymous;ESP6500_GL=PSEN2;ESP6500_GRCh38_POSITION=1:226883824;ESP6500_GTC=1615,3145,1743;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012486.2:c.261C>T,NM_000447.2:c.261C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012486.2:p.(H87),NM_000447.2:p.(H87);ESP6500_MAF=46.0465,39.3781,49.0158;ESP6500_TAC=6375,6631;CLINVAR_AF_ESP=0.4902;CLINVAR_AF_EXAC=0.49907;CLINVAR_AF_TGP=0.4433;CLINVAR_ALLELEID=249748;CLINVAR_CLNDISDB=MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310;CLINVAR_CLNDN=Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.226883824C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:14657|Illumina_Clinical_Services_Laboratory,Illumina:3904;CLINVAR_GENEINFO=PSEN2:5664;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1046240	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1427,0,1173
chr1	226885709	rs2236910	G	C	779.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.728;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.853;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.386;SOR=0.304;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236910;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|6/12|c.498+30G>C||||||,C|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|6/12|c.498+30G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3684;p3_1000G_AF=0.735623;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=17216;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.8022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227073410;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3605,801;ESP6500_AA_AGE=320.2+/-296.5;ESP6500_AA_GTC=1478,649,76;ESP6500_CDS_SIZES=NM_012486.2:1344,NM_000447.2:1347;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=85;ESP6500_EA_AC=6708,1892;ESP6500_EA_AGE=335.0+/-321.2;ESP6500_EA_GTC=2602,1504,194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012486.2:intron,NM_000447.2:intron;ESP6500_GL=PSEN2;ESP6500_GRCh38_POSITION=1:226885709;ESP6500_GTC=4080,2153,270;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_012486.2:c.498+30G>C,NM_000447.2:c.498+30G>C;ESP6500_MAF=22.0,18.1798,20.7058;ESP6500_TAC=10313,2693	GT:AD:DP:GQ:PL	0/1:19,30:49:99:808,0,550
chr1	226891254	rs2802267	T	C	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.247;SOR=0.509;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2802267;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|9/12|c.887-24T>C||||||,C|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|9/12|c.887-24T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3620;p3_1000G_AF=0.722843;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=18088;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.8022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227078955;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7505;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3441,965;ESP6500_AA_AGE=350.5+/-310.9;ESP6500_AA_GTC=1371,699,133;ESP6500_CDS_SIZES=NM_012486.2:1344,NM_000447.2:1347;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=6705,1895;ESP6500_EA_AGE=324.9+/-316.7;ESP6500_EA_GTC=2598,1509,193;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012486.2:intron,NM_000447.2:intron;ESP6500_GL=PSEN2;ESP6500_GRCh38_POSITION=1:226891254;ESP6500_GTC=3969,2208,326;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012486.2:c.887-24T>C,NM_000447.2:c.887-24T>C;ESP6500_MAF=22.0349,21.902,21.9899;ESP6500_TAC=10146,2860	GT:AD:DP:GQ:PL	0/1:24,17:41:99:451,0,584
chr1	226893921	rs10753428	A	G	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.98;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=12.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.034;SOR=3.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10753428;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|11/12|c.1073-86A>G||||||,G|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|11/12|c.1070-86A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3506;p3_1000G_AF=0.70008;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=14922;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.8032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227081622;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,10:25:99:277,0,355
chr1	226894149	rs2855562	G	A	643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2855562;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_000447.2|protein_coding|12/12|c.1191+24G>A||||||,A|intron_variant|MODIFIER|PSEN2|PSEN2|transcript|NM_012486.2|protein_coding|12/12|c.1188+24G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2875;p3_1000G_AF=0.574081;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=15765;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227081850;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2170,2234;ESP6500_AA_AGE=558.6+/-380.0;ESP6500_AA_GTC=531,1108,563;ESP6500_CDS_SIZES=NM_012486.2:1344,NM_000447.2:1347;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=4823,3777;ESP6500_EA_AGE=508.1+/-377.0;ESP6500_EA_GTC=1365,2093,842;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012486.2:intron,NM_000447.2:intron;ESP6500_GL=PSEN2;ESP6500_GRCh38_POSITION=1:226894149;ESP6500_GTC=1896,3201,1405;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012486.2:c.1188+24G>A,NM_000447.2:c.1191+24G>A;ESP6500_MAF=43.9186,49.2734,46.2242;ESP6500_TAC=6993,6011	GT:AD:DP:GQ:PL	1/1:0,21:21:63:672,63,0
chr1	226977783	rs1888826	T	C	189.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1888826;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|5/14|c.730+260T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4333;p3_1000G_AF=0.865216;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=17019;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.8748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227165484;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:218,18,0
chr1	226982597	rs2297412	A	G	14.91	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=0.967;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297412;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|6/14|c.854-81A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1783;p3_1000G_AF=0.35603;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=14185;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227170298;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:43:43,0,252
chr1	226982842	rs2297413	C	G	1260.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=0.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297413;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|7/14|c.940-52C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=993;p3_1000G_AF=0.198283;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=15757;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.2286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227170543;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=235,1515;ESP6500_AA_GTC=14,207,654;ESP6500_CDS_SIZES=NM_020247.4:1944;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=23;ESP6500_EA_AC=930,3052;ESP6500_EA_GTC=109,712,1170;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020247.4:intron;ESP6500_GL=ADCK3;ESP6500_GRCh38_POSITION=1:226982842;ESP6500_GTC=123,919,1824;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020247.4:c.940-52C>G;ESP6500_MAF=23.3551,13.4286,20.3245;ESP6500_TAC=1165,4567	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1289,123,0
chr1	226983883	rs3215919;rs397840166	GT	G	362.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.592;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=-0.29;SOR=0.399;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3215919;dbSNPBuildID=137,138;ANN=G|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|10/14|c.1256+32delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TTT|TT|deletion;p3_1000G_AC=1313;p3_1000G_AF=0.262181;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=14710;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227171584;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=INDEL;ESP6500_AA_AC=1251,2975;ESP6500_AA_GTC=219,813,1081;ESP6500_CDS_SIZES=NM_020247.4:1944;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=11;ESP6500_EA_AC=3630,4580;ESP6500_EA_GTC=850,1930,1325;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020247.4:intron;ESP6500_GL=ADCK3;ESP6500_GRCh38_POSITION=1:226983883;ESP6500_GTC=1069,2743,2406;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020247.4:c.1256+30del1;ESP6500_MAF=44.2144,29.6025,39.249;ESP6500_TAC=4881,7555	GT:AD:DP:GQ:PL	0/1:8,13:21:99:400,0,221
chr1	226984036	rs1574184	G	T	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.949;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=1.07;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1574184;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|10/14|c.1257-58G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1408;p3_1000G_AF=0.28115;p3_1000G_AFR_AF=0.2829;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=12588;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.3877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227171737;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:99:0|1:226984036_G_T:133,0,169
chr1	226984038	rs1574185	G	T	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.949;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.652;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1574185;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|10/14|c.1257-56G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1403;p3_1000G_AF=0.280152;p3_1000G_AFR_AF=0.2655;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=12507;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.3569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227171739;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:99:0|1:226984036_G_T:133,0,169
chr1	226984589	rs12593;128274	C	T	800.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.748;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.299;SOR=0.752;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12593;dbSNPBuildID=52;ANN=T|structural_interaction_variant|HIGH|COQ8A|COQ8A|interaction|4PED:A_480-A_522:NM_020247.4|protein_coding|12/15|c.1440C>T||||||,T|structural_interaction_variant|HIGH|COQ8A|COQ8A|interaction|4PED:A_480-A_523:NM_020247.4|protein_coding|12/15|c.1440C>T||||||,T|structural_interaction_variant|HIGH|COQ8A|COQ8A|interaction|4PED:A_480-A_636:NM_020247.4|protein_coding|12/15|c.1440C>T||||||,T|structural_interaction_variant|HIGH|COQ8A|COQ8A|interaction|4PED:A_480-A_640:NM_020247.4|protein_coding|12/15|c.1440C>T||||||,T|structural_interaction_variant|HIGH|COQ8A|COQ8A|interaction|4PED:A_480-A_643:NM_020247.4|protein_coding|12/15|c.1440C>T||||||,T|synonymous_variant|LOW|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|12/15|c.1440C>T|p.Phe480Phe|1612/2924|1440/1944|480/647||;p3_1000G_AA=C|||;p3_1000G_AC=1195;p3_1000G_AF=0.238618;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=18538;p3_1000G_EAS_AF=0.1716;p3_1000G_EUR_AF=0.4274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227172290;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=921,3485;ESP6500_AA_AGE=353.8+/-312.3;ESP6500_AA_GTC=101,719,1383;ESP6500_CDS_SIZES=NM_020247.4:1944;ESP6500_CG=-3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=113;ESP6500_EA_AC=3939,4661;ESP6500_EA_AGE=549.1+/-385.5;ESP6500_EA_GTC=898,2143,1259;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020247.4:coding-synonymous;ESP6500_GL=ADCK3;ESP6500_GRCh38_POSITION=1:226984589;ESP6500_GTC=999,2862,2642;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020247.4:c.1440C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020247.4:p.(F480);ESP6500_MAF=45.8023,20.9033,37.3674;ESP6500_TAC=4860,8146;CLINVAR_AF_ESP=0.3737;CLINVAR_AF_EXAC=0.35251;CLINVAR_AF_TGP=0.2386;CLINVAR_ALLELEID=133723;CLINVAR_CLNDISDB=MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485|MedGen:CN169374|MedGen:CN226644,Orphanet:ORPHA1172|MedGen:CN239204;CLINVAR_CLNDN=Coenzyme_Q10_deficiency,_primary,_4|not_specified|Autosomal_recessive_cerebellar_ataxia|Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type;CLINVAR_CLNHGVS=NC_000001.11:g.226984589C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3953;CLINVAR_GENEINFO=COQ8A:56997;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12593	GT:AD:DP:GQ:PL	0/1:38,33:71:99:829,0,935
chr1	226985202	rs2297415	G	A	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.017;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=10.139;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.825;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297415;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding||c.*9066C>T|||||4663|,A|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding||c.*9066C>T|||||4663|,A|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|13/14|c.1573-52G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1350;p3_1000G_AF=0.269569;p3_1000G_AFR_AF=0.2731;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=13509;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227172903;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=928,2208;ESP6500_AA_GTC=142,644,782;ESP6500_CDS_SIZES=NM_020247.4:1944;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=3335,3829;ESP6500_EA_GTC=775,1785,1022;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020247.4:intron;ESP6500_GL=ADCK3;ESP6500_GRCh38_POSITION=1:226985202;ESP6500_GTC=917,2429,1804;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020247.4:c.1573-52G>A;ESP6500_MAF=46.5522,29.5918,41.3883;ESP6500_TAC=4263,6037	GT:AD:DP:GQ:PL	0/1:12,13:25:99:346,0,317
chr1	226985234	rs2297416;518313	C	G	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.526;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.354;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=-1.304;SOR=1.069;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297416;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding||c.*9034G>C|||||4631|,G|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding||c.*9034G>C|||||4631|,G|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|13/14|c.1573-20C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1328;p3_1000G_AF=0.265176;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=14718;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.4414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227172935;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1206,3200;ESP6500_AA_AGE=418.9+/-338.5;ESP6500_AA_GTC=157,892,1154;ESP6500_CDS_SIZES=NM_020247.4:1944;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=96;ESP6500_EA_AC=3978,4622;ESP6500_EA_AGE=550.5+/-385.8;ESP6500_EA_GTC=915,2148,1237;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020247.4:intron;ESP6500_GL=ADCK3;ESP6500_GRCh38_POSITION=1:226985234;ESP6500_GTC=1072,3040,2391;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020247.4:c.1573-20C>G;ESP6500_MAF=46.2558,27.3718,39.8585;ESP6500_TAC=5184,7822;CLINVAR_ALLELEID=508767;CLINVAR_CLNDISDB=MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485;CLINVAR_CLNDN=Coenzyme_Q10_deficiency,_primary,_4;CLINVAR_CLNHGVS=NC_000001.11:g.226985234C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COQ8A:56997;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2297416	GT:AD:DP:GQ:PL	0/1:14,23:37:99:638,0,398
chr1	226985469	rs187052153	G	A	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.076;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.538;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187052153;dbSNPBuildID=135;ANN=A|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding||c.*8799C>T|||||4396|,A|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding||c.*8799C>T|||||4396|,A|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|14/14|c.1659+129G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15154;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227173170;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:200,0,205
chr1	226986444	rs7552783;296024	T	C	886.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.959;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=7.628;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=0.67;SOR=0.146;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7552783;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding||c.*7824A>G|||||3421|,C|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding||c.*7824A>G|||||3421|,C|intron_variant|MODIFIER|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|14/14|c.1660-9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1761;p3_1000G_AF=0.351637;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=15906;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227174145;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1844,2562;ESP6500_AA_AGE=630.9+/-395.5;ESP6500_AA_GTC=378,1088,737;ESP6500_CDS_SIZES=NM_020247.4:1944;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=78;ESP6500_EA_AC=4343,4257;ESP6500_EA_AGE=569.8+/-389.2;ESP6500_EA_GTC=1090,2163,1047;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020247.4:intron;ESP6500_GL=ADCK3;ESP6500_GRCh38_POSITION=1:226986444;ESP6500_GTC=1468,3251,1784;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020247.4:c.1660-9T>C;ESP6500_MAF=49.5,41.852,47.5704;ESP6500_TAC=6187,6819;CLINVAR_AF_ESP=0.4757;CLINVAR_AF_EXAC=0.41548;CLINVAR_AF_TGP=0.3516;CLINVAR_ALLELEID=279683;CLINVAR_CLNDISDB=MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485|MedGen:CN226644,Orphanet:ORPHA1172|MedGen:CN239204;CLINVAR_CLNDN=Coenzyme_Q10_deficiency,_primary,_4|Autosomal_recessive_cerebellar_ataxia|Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type;CLINVAR_CLNHGVS=NC_000001.11:g.226986444T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3917;CLINVAR_GENEINFO=COQ8A:56997;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7552783	GT:AD:DP:GQ:PL	0/1:22,32:54:99:915,0,640
chr1	226986509	rs3738725;128275	T	C	1261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.144;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=2.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.965;SOR=0.417;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738725;dbSNPBuildID=107;ANN=C|structural_interaction_variant|HIGH|COQ8A|COQ8A|interaction|4PED:A_572-A_630:NM_020247.4|protein_coding|15/15|c.1716T>C||||||,C|synonymous_variant|LOW|COQ8A|COQ8A|transcript|NM_020247.4|protein_coding|15/15|c.1716T>C|p.Ser572Ser|1888/2924|1716/1944|572/647||,C|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding||c.*7759A>G|||||3356|,C|downstream_gene_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding||c.*7759A>G|||||3356|;p3_1000G_AA=C|||;p3_1000G_AC=1572;p3_1000G_AF=0.313898;p3_1000G_AFR_AF=0.2882;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=17137;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.494;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227174210;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1405,3001;ESP6500_AA_AGE=687.2+/-404.8;ESP6500_AA_GTC=222,961,1020;ESP6500_CDS_SIZES=NM_020247.4:1944;ESP6500_CG=-11.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=97;ESP6500_EA_AC=4346,4254;ESP6500_EA_AGE=574.0+/-390.0;ESP6500_EA_GTC=1088,2170,1042;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020247.4:coding-synonymous;ESP6500_GL=ADCK3;ESP6500_GRCh38_POSITION=1:226986509;ESP6500_GTC=1310,3131,2062;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020247.4:c.1716T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020247.4:p.(S572);ESP6500_MAF=49.4651,31.8883,44.2181;ESP6500_TAC=5751,7255;CLINVAR_AF_ESP=0.4422;CLINVAR_AF_EXAC=0.40536;CLINVAR_AF_TGP=0.3139;CLINVAR_ALLELEID=133724;CLINVAR_CLNDISDB=MedGen:C2677589,OMIM:612016,Orphanet:ORPHA139485|MedGen:CN169374|MedGen:CN226644,Orphanet:ORPHA1172|MedGen:CN239204;CLINVAR_CLNDN=Coenzyme_Q10_deficiency,_primary,_4|not_specified|Autosomal_recessive_cerebellar_ataxia|Coenzyme_Q10_deficiency,_Spinocerebellar_Ataxia_Type;CLINVAR_CLNHGVS=NC_000001.11:g.226986509T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:3937;CLINVAR_GENEINFO=COQ8A:56997;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3738725	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1290,0,1267
chr1	226994222	rs3795451	C	T	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.548;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-1.169;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795451;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|36/36|c.*46G>A|||||46|,T|3_prime_UTR_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|35/35|c.*46G>A|||||46|;p3_1000G_AA=C|||;p3_1000G_AC=1428;p3_1000G_AF=0.285144;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=17528;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227181923;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1229,3123;ESP6500_AA_GTC=191,847,1138;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=15;ESP6500_EA_AC=3845,4671;ESP6500_EA_GTC=942,1961,1355;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:utr-3,NM_003607.3:utr-3;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:226994222;ESP6500_GTC=1133,2808,2493;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.*46G>A,NM_003607.3:c.*46G>A;ESP6500_MAF=45.1503,28.2399,39.4311;ESP6500_TAC=5074,7794	GT:AD:DP:GQ:PL	0/1:6,5:11:99:129,0,218
chr1	226994332	rs2802269	G	A	978.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2802269;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|36/36|c.5096C>T|p.Ala1699Val|6039/10506|5096/5160|1699/1719||,A|missense_variant|MODERATE|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|35/35|c.4853C>T|p.Ala1618Val|5796/10263|4853/4917|1618/1638||;p3_1000G_AA=A|||;p3_1000G_AC=4398;p3_1000G_AF=0.878195;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.8718;p3_1000G_AN=5008;p3_1000G_DP=17197;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.8738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227182033;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4053,351;ESP6500_AA_GTC=1863,327,12;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=37;ESP6500_EA_AC=7694,906;ESP6500_EA_GTC=3445,804,51;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014826.4:missense,NM_003607.3:missense;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:226994332;ESP6500_GS=64,64;ESP6500_GTC=5308,1131,63;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.4853C>T,NM_003607.3:c.5096C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014826.4:p.(A1618V),NM_003607.3:p.(A1699V);ESP6500_MAF=10.5349,7.97,9.6663;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11747,1257	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1007,99,0
chr1	226994874	rs1045247	A	G	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.662;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1045247;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|35/36|c.4977T>C|p.Ser1659Ser|5920/10506|4977/5160|1659/1719||,G|synonymous_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|34/35|c.4734T>C|p.Ser1578Ser|5677/10263|4734/4917|1578/1638||;p3_1000G_AA=g|||;p3_1000G_AC=4141;p3_1000G_AF=0.826877;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=18869;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.826;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227182575;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6125;p3_1000G_VT=SNP;ESP6500_AA_AC=4158,248;ESP6500_AA_AGE=143.5+/-178.5;ESP6500_AA_GTC=1957,244,2;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-9.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=90;ESP6500_EA_AC=6969,1631;ESP6500_EA_AGE=302.5+/-306.0;ESP6500_EA_GTC=2837,1295,168;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:coding-synonymous,NM_003607.3:coding-synonymous;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:226994874;ESP6500_GTC=4794,1539,170;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.4734T>C,NM_003607.3:c.4977T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014826.4:p.(S1578),NM_003607.3:p.(S1659);ESP6500_MAF=18.9651,5.6287,14.4472;ESP6500_TAC=11127,1879	GT:AD:DP:GQ:PL	0/1:20,22:42:99:592,0,427
chr1	226995053	rs2297419	G	A	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.809;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-1.071;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297419;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|34/35|c.4871-73C>T||||||,A|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|33/34|c.4628-73C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=708;p3_1000G_AF=0.141374;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=21741;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.2207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227182754;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,13:20:99:364,0,171
chr1	227004878	rs2297418	A	C	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.958;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=9.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.379;SOR=0.029;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2297418;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|34/35|c.4870+116T>G||||||,C|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|33/34|c.4627+116T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1340;p3_1000G_AF=0.267572;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=21109;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227192579;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,15:28:99:432,0,379
chr1	227016856	rs17600747	T	C	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.16;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=1.67;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17600747;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|32/35|c.4634+71A>G||||||,C|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|31/34|c.4391+71A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=738;p3_1000G_AF=0.147364;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=19593;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227204557;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,12:26:99:389,0,420
chr1	227023119	rs11580229	G	A	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.368;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.566;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11580229;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|31/35|c.4510+144C>T||||||,A|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|30/34|c.4267+144C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1431;p3_1000G_AF=0.285743;p3_1000G_AFR_AF=0.3404;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=15717;p3_1000G_EAS_AF=0.1478;p3_1000G_EUR_AF=0.4364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227210820;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:103,0,148
chr1	227023187	rs11578479	A	T	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.589;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11578479;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|31/35|c.4510+76T>A||||||,T|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|30/34|c.4267+76T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1433;p3_1000G_AF=0.286142;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=16137;p3_1000G_EAS_AF=0.1478;p3_1000G_EUR_AF=0.4374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227210888;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:124,0,109
chr1	227025974	rs1300009429	TA	T	30.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.44;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.12;ReadPosRankSum=0.189;SOR=0.132;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|30/35|c.4425+80delT||||||,T|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|29/34|c.4182+80delT||||||	GT:AD:DP:GQ:PL	0/1:3,3:6:68:68,0,68
chr1	227028961	rs1929861	T	C	1126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.031;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0.803;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.58;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1929861;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|29/36|c.4023A>G|p.Lys1341Lys|4966/10506|4023/5160|1341/1719||,C|synonymous_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|28/35|c.3780A>G|p.Lys1260Lys|4723/10263|3780/4917|1260/1638||;p3_1000G_AA=C|||;p3_1000G_AC=2025;p3_1000G_AF=0.404353;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=19580;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.4652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227216662;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2058,2348;ESP6500_AA_AGE=606.5+/-390.8;ESP6500_AA_GTC=470,1118,615;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=74;ESP6500_EA_AC=3933,4667;ESP6500_EA_AGE=603.0+/-394.6;ESP6500_EA_GTC=883,2167,1250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:coding-synonymous,NM_003607.3:coding-synonymous;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227028961;ESP6500_GTC=1353,3285,1865;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.3780A>G,NM_003607.3:c.4023A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014826.4:p.(K1260),NM_003607.3:p.(K1341);ESP6500_MAF=45.7326,46.709,46.0634;ESP6500_TAC=5991,7015	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1155,0,1245
chr1	227029074	rs1929860	C	T	777.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.243;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.691;SOR=0.62;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1929860;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|29/36|c.3910G>A|p.Val1304Ile|4853/10506|3910/5160|1304/1719||,T|missense_variant|MODERATE|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|28/35|c.3667G>A|p.Val1223Ile|4610/10263|3667/4917|1223/1638||;p3_1000G_AA=T|||;p3_1000G_AC=1403;p3_1000G_AF=0.280152;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=18097;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227216775;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=962,3444;ESP6500_AA_AGE=733.3+/-410.5;ESP6500_AA_GTC=109,744,1350;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=60;ESP6500_EA_AC=2711,5889;ESP6500_EA_AGE=681.9+/-403.8;ESP6500_EA_GTC=406,1899,1995;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014826.4:missense,NM_003607.3:missense;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227029074;ESP6500_GS=29,29;ESP6500_GTC=515,2643,3345;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.3667G>A,NM_003607.3:c.3910G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014826.4:p.(V1223I),NM_003607.3:p.(V1304I);ESP6500_MAF=31.5233,21.8339,28.2408;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=3673,9333	GT:AD:DP:GQ:PL	0/1:47,36:83:99:806,0,1197
chr1	227029304	rs3820651	C	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.329;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-0.349;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820651;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|28/35|c.3734-54G>A||||||,T|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|27/34|c.3491-54G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=798;p3_1000G_AF=0.159345;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=18621;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.1521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227217005;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:96:96,0,195
chr1	227030368	rs5781458;rs543534305	C	CAT	682.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=2.049;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5781458;dbSNPBuildID=130;ANN=CAT|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|28/35|c.3733+39_3733+40insAT||||||,CAT|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|27/34|c.3490+39_3490+40insAT||||||;p3_1000G_AC=3760;p3_1000G_AF=0.750799;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=13079;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.7276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227218069;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=3549,659;ESP6500_AA_GTC=1507,535,62;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=23;ESP6500_EA_AC=6759,1437;ESP6500_EA_GTC=2802,1155,141;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:intron,NM_003607.3:intron;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227030368;ESP6500_GTC=4309,1690,203;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.3490+39_3490+40insAT,NM_003607.3:c.3733+39_3733+40insAT;ESP6500_MAF=17.5329,15.6606,16.8978;ESP6500_TAC=10308,2096	GT:AD:DP:GQ:PL	1/1:0,16:16:48:720,48,0
chr1	227033422	rs11582863	G	A	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.323;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-1.293;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11582863;dbSNPBuildID=120;ANN=A|splice_region_variant&intron_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|25/35|c.3372-7C>T||||||,A|splice_region_variant&intron_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|24/34|c.3129-7C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=740;p3_1000G_AF=0.147764;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=16209;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.2038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227221123;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=542,3864;ESP6500_AA_AGE=245.3+/-254.3;ESP6500_AA_GTC=29,484,1690;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-1.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=68;ESP6500_EA_AC=1698,6902;ESP6500_EA_AGE=306.5+/-307.9;ESP6500_EA_GTC=153,1392,2755;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:intron,NM_003607.3:intron;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227033422;ESP6500_GTC=182,1876,4445;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.3129-7C>T,NM_003607.3:c.3372-7C>T;ESP6500_MAF=19.7442,12.3014,17.2228;ESP6500_TAC=2240,10766	GT:AD:DP:GQ:PL	0/1:20,21:41:99:430,0,474
chr1	227033521	rs11586734	C	G	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.985;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.705;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11586734;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|25/35|c.3372-106G>C||||||,G|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|24/34|c.3129-106G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=803;p3_1000G_AF=0.160343;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=16798;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.1521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227221222;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:177,0,184
chr1	227034814	rs112562427;rs113874316;rs61703280	G	GACAA	1492.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=1.819;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61703280,rs113874316,rs112562427;dbSNPBuildID=132,132,137;ANN=GACAA|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|24/35|c.3232-24_3232-21dupTTGT||||||,GACAA|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|23/34|c.2989-24_2989-21dupTTGT||||||;p3_1000G_AC=4985;p3_1000G_AF=0.995407;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=19937;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227222515;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=INDEL;ESP6500_AA_AC=4261,5;ESP6500_AA_GTC=2128,5,0;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=87;ESP6500_EA_AC=8244,10;ESP6500_EA_GTC=4117,10,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:intron,NM_003607.3:intron;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227034814;ESP6500_GTC=6245,15,0;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.2989-21_2989-20insTTGT,NM_003607.3:c.3232-21_3232-20insTTGT;ESP6500_MAF=0.1212,0.1172,0.1198;ESP6500_TAC=12505,15	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1530,102,0
chr1	227051861	rs34111989	G	C	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=5.379;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.016;SOR=1.714;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34111989;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|21/35|c.2905-3851C>G||||||,C|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|20/34|c.2662-3851C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=738;p3_1000G_AF=0.147364;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=17916;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.2028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227239562;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=220,1532;ESP6500_AA_GTC=10,200,666;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=81;ESP6500_EA_AC=791,3191;ESP6500_EA_GTC=67,657,1267;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:intron,NM_003607.3:intron;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227051861;ESP6500_GTC=77,857,1933;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.2662-3851C>G,NM_003607.3:c.2905-3851C>G;ESP6500_MAF=19.8644,12.5571,17.6317;ESP6500_TAC=1011,4723	GT:AD:DP:GQ:PL	0/1:21,18:39:99:528,0,549
chr1	227052045	rs10799381	G	T	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.664;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.075;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-0.823;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10799381;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|21/35|c.2905-4035C>A||||||,T|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|20/34|c.2662-4035C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3297;p3_1000G_AF=0.658347;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=22342;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227239746;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,9:23:99:253,0,521
chr1	227100954	rs2104863	G	A	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2104863;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|15/35|c.2249+38C>T||||||,A|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|14/34|c.2006+38C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=4181;p3_1000G_AF=0.834864;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=17203;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.8111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227288655;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP;ESP6500_AA_AC=3654,740;ESP6500_AA_GTC=1515,624,58;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=22;ESP6500_EA_AC=7038,1500;ESP6500_EA_GTC=2913,1212,144;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:intron,NM_003607.3:intron;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227100954;ESP6500_GTC=4428,1836,202;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.2006+38C>T,NM_003607.3:c.2249+38C>T;ESP6500_MAF=17.5685,16.8411,17.3214;ESP6500_TAC=10692,2240	GT:AD:DP:GQ:PL	1/1:0,12:12:36:463,36,0
chr1	227112576	rs488104	G	A	49.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs488104;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|13/35|c.1890+95C>T||||||,A|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|12/34|c.1648-154C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3299;p3_1000G_AF=0.658746;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=10333;p3_1000G_EAS_AF=0.7192;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227300277;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:77,6,0
chr1	227143058	rs12139502	A	G	361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.83;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12139502;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|8/35|c.1144-34T>C||||||,G|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|8/34|c.1144-34T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3716;p3_1000G_AF=0.742013;p3_1000G_AFR_AF=0.6286;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=17025;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227330759;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2865,1541;ESP6500_AA_AGE=668.2+/-402.0;ESP6500_AA_GTC=925,1015,263;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=40;ESP6500_EA_AC=6363,2237;ESP6500_EA_AGE=704.7+/-405.4;ESP6500_EA_GTC=2356,1651,293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:intron,NM_003607.3:intron;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227143058;ESP6500_GTC=3281,2666,556;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.1144-34T>C,NM_003607.3:c.1144-34T>C;ESP6500_MAF=26.0116,34.975,29.0481;ESP6500_TAC=9228,3778	GT:AD:DP:GQ:PL	1/1:0,13:13:39:390,39,0
chr1	227199442	rs3768435	A	G	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768435;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|4/35|c.450+115T>C||||||,G|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|4/34|c.450+115T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3353;p3_1000G_AF=0.669529;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=16608;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.7187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227387143;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:57:108,0,57
chr1	227199660	rs3768434	A	G	86.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.1;ReadPosRankSum=1.27;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768434;dbSNPBuildID=107;ANN=G|splice_region_variant&intron_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|3/35|c.355-8T>C||||||,G|splice_region_variant&intron_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|3/34|c.355-8T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4003;p3_1000G_AF=0.799321;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=14063;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.8519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227387361;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3929,475;ESP6500_AA_AGE=222.6+/-239.4;ESP6500_AA_GTC=1758,413,31;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=7380,1212;ESP6500_EA_AGE=243.3+/-273.0;ESP6500_EA_GTC=3161,1058,77;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:intron,NM_003607.3:intron;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227199660;ESP6500_GTC=4919,1471,108;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.355-8T>C,NM_003607.3:c.355-8T>C;ESP6500_MAF=14.1061,10.7856,12.9809;ESP6500_TAC=11309,1687	GT:AD:DP:GQ:PL	0/1:12,5:17:99:115,0,290
chr1	227316912	rs4653822	G	C	655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4653822;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|1/35|c.178+93C>G||||||,C|intron_variant|MODIFIER|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|1/34|c.178+93C>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4255;p3_1000G_AF=0.849641;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=17822;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.7942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227504613;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:684,54,0
chr1	227317093	rs11804613	T	C	463.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.677;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=0.518;SOR=0.309;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11804613;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_003607.3|protein_coding|1/36|c.90A>G|p.Thr30Thr|1033/10506|90/5160|30/1719||,C|synonymous_variant|LOW|CDC42BPA|CDC42BPA|transcript|NM_014826.4|protein_coding|1/35|c.90A>G|p.Thr30Thr|1033/10263|90/4917|30/1638||;p3_1000G_AA=N|||;p3_1000G_AC=1358;p3_1000G_AF=0.271166;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=16521;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.1521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227504794;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1318,3088;ESP6500_AA_AGE=696.9+/-406.1;ESP6500_AA_GTC=191,936,1076;ESP6500_CDS_SIZES=NM_014826.4:4917,NM_003607.3:5160;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=126;ESP6500_EA_AC=1229,7371;ESP6500_EA_AGE=762.3+/-407.6;ESP6500_EA_GTC=80,1069,3151;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014826.4:coding-synonymous,NM_003607.3:coding-synonymous;ESP6500_GL=CDC42BPA;ESP6500_GRCh38_POSITION=1:227317093;ESP6500_GTC=271,2005,4227;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014826.4:c.90A>G,NM_003607.3:c.90A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014826.4:p.(T30),NM_003607.3:p.(T30);ESP6500_MAF=14.2907,29.9138,19.5833;ESP6500_TAC=2547,10459	GT:AD:DP:GQ:PL	0/1:26,23:49:99:492,0,607
chr1	227582487	.	ATT	A	12.02	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3;ReadPosRankSum=-0.674;SOR=0.693;DEL;HET;VARTYPE=DEL;ANN=A|splice_region_variant&intron_variant|LOW|ZNF678|ZNF678|transcript|NM_178549.3|protein_coding|1/3|c.31-6_31-5delTT||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|ZNF678|ZNF678|transcript|NR_102302.1|pseudogene|1/5|n.207-6_207-5delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ZNF678|ZNF678|transcript|NR_033184.1|pseudogene|1/3|n.206+18784_206+18785delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,2:4:28:49,0,28
chr1	227646527	rs79145640	AT	A	334.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.551;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=-1.318;SOR=1.101;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs79145640;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ZNF678|ZNF678|transcript|NM_178549.3|protein_coding|2/3|c.124-12delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ZNF678|ZNF678|transcript|NR_033184.1|pseudogene|1/3|n.207-12delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ZNF678|ZNF678|transcript|NR_102302.1|pseudogene|2/5|n.300-12delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTT|TTTTT|TTTT|insertion;p3_1000G_AC=1082;p3_1000G_AF=0.216054;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=17876;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.17;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227834228;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:34,21:55:99:372,0,902
chr1	227646532	rs398074708;rs78467777;rs9426531	TC	T	614.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.376;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.61;SOR=0.634;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs78467777;dbSNPBuildID=137,138;ANN=T|splice_region_variant&intron_variant|LOW|ZNF678|ZNF678|transcript|NM_178549.3|protein_coding|2/3|c.124-3delC||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|ZNF678|ZNF678|transcript|NR_033184.1|pseudogene|1/3|n.207-3delC||||||INFO_REALIGN_3_PRIME,T|splice_region_variant&intron_variant|LOW|ZNF678|ZNF678|transcript|NR_102302.1|pseudogene|2/5|n.300-3delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2681;p3_1000G_AF=0.535343;p3_1000G_AFR_AF=0.6619;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=16253;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227834233;p3_1000G_GRCH37_REF=TC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:23,30:53:99:643,0,735
chr1	227646699	rs6426468	G	A	2637.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=1.455;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426468;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ZNF678|ZNF678|transcript|NM_178549.3|protein_coding|3/3|c.250+29G>A||||||,A|intron_variant|MODIFIER|ZNF678|ZNF678|transcript|NR_033184.1|pseudogene|2/3|n.333+29G>A||||||,A|intron_variant|MODIFIER|ZNF678|ZNF678|transcript|NR_102302.1|pseudogene|3/5|n.426+29G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3869;p3_1000G_AF=0.772564;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=18084;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.5736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227834400;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1192,192;ESP6500_AA_GTC=513,166,13;ESP6500_CDS_SIZES=NM_178549.3:1743;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=27;ESP6500_EA_AC=1891,1291;ESP6500_EA_GTC=564,763,264;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178549.3:intron;ESP6500_GL=ZNF678;ESP6500_GRCh38_POSITION=1:227646699;ESP6500_GTC=1077,929,277;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178549.3:c.250+29G>A;ESP6500_MAF=40.572,13.8728,32.4792;ESP6500_TAC=3083,1483	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2666,263,0
chr1	227732360	rs1060295	T	G	701.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1060295;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|JMJD4|JMJD4|transcript|NM_023007.2|protein_coding|6/6|c.*32A>C|||||32|,G|3_prime_UTR_variant|MODIFIER|JMJD4|JMJD4|transcript|NM_001161465.1|protein_coding|6/6|c.*32A>C|||||32|,G|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding||c.-3050T>G|||||2636|,G|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding||c.-3050T>G|||||2636|,G|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene||n.-2636T>G|||||2636|,G|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding||c.-15377T>G|||||2636|,G|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene||n.-2636T>G|||||2636|,G|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene||n.-2636T>G|||||2636|,G|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding||c.-15377T>G|||||3335|,G|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|3/6|c.-46+613T>G||||||,G|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|1/4|c.-46+3574T>G||||||,G|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|2/5|c.-46+613T>G||||||,G|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.269+3574T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3750;p3_1000G_AF=0.748802;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=18085;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.5557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227920061;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3937,459;ESP6500_AA_GTC=1775,387,36;ESP6500_CDS_SIZES=NM_023007.2:1392,NM_001161465.1:1344;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=32;ESP6500_EA_AC=4922,3668;ESP6500_EA_GTC=1417,2088,790;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023007.2:utr-3,NM_001161465.1:utr-3;ESP6500_GL=JMJD4;ESP6500_GRCh38_POSITION=1:227732360;ESP6500_GTC=3192,2475,826;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_023007.2:c.*32A>C,NM_001161465.1:c.*32A>C;ESP6500_MAF=42.7008,10.4413,31.7804;ESP6500_TAC=8859,4127	GT:AD:DP:GQ:PL	1/1:0,21:21:63:730,63,0
chr1	227732402	rs3087908	G	A	449.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.907;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.959;SOR=1.264;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087908;dbSNPBuildID=102;ANN=A|missense_variant|MODERATE|JMJD4|JMJD4|transcript|NM_023007.2|protein_coding|6/6|c.1382C>T|p.Ala461Val|1382/2595|1382/1392|461/463||,A|missense_variant|MODERATE|JMJD4|JMJD4|transcript|NM_001161465.1|protein_coding|6/6|c.1334C>T|p.Ala445Val|1334/2547|1334/1344|445/447||,A|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding||c.-3008G>A|||||2594|,A|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding||c.-3008G>A|||||2594|,A|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene||n.-2594G>A|||||2594|,A|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding||c.-15335G>A|||||2594|,A|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene||n.-2594G>A|||||2594|,A|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene||n.-2594G>A|||||2594|,A|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding||c.-15335G>A|||||3293|,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|3/6|c.-46+655G>A||||||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|1/4|c.-46+3616G>A||||||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|2/5|c.-46+655G>A||||||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.269+3616G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=881;p3_1000G_AF=0.175919;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=18954;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.1531;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227920103;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=668,3738;ESP6500_AA_AGE=272.2+/-270.6;ESP6500_AA_GTC=61,546,1596;ESP6500_CDS_SIZES=NM_023007.2:1392,NM_001161465.1:1344;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=40;ESP6500_EA_AC=1621,6979;ESP6500_EA_AGE=293.0+/-301.1;ESP6500_EA_GTC=134,1353,2813;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_023007.2:missense,NM_001161465.1:missense;ESP6500_GL=JMJD4;ESP6500_GRCh38_POSITION=1:227732402;ESP6500_GS=64,64;ESP6500_GTC=195,1899,4409;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_023007.2:c.1382C>T,NM_001161465.1:c.1334C>T;ESP6500_HGVS_PROTEIN_VAR=NM_023007.2:p.(A461V),NM_001161465.1:p.(A445V);ESP6500_MAF=18.8488,15.1611,17.5996;ESP6500_PH=benign:0.032,benign:0.032;ESP6500_TAC=2289,10717	GT:AD:DP:GQ:PL	0/1:17,17:34:99:478,0,466
chr1	227732746	rs751748	C	T	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.392;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=1.2;SOR=0.724;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs751748;dbSNPBuildID=86;ANN=T|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding||c.-2664C>T|||||2250|,T|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding||c.-2664C>T|||||2250|,T|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene||n.-2250C>T|||||2250|,T|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding||c.-14991C>T|||||2250|,T|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene||n.-2250C>T|||||2250|,T|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene||n.-2250C>T|||||2250|,T|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding||c.-14991C>T|||||2949|,T|intron_variant|MODIFIER|JMJD4|JMJD4|transcript|NM_023007.2|protein_coding|5/5|c.1108-70G>A||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|3/6|c.-46+999C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|1/4|c.-46+3960C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|2/5|c.-46+999C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.269+3960C>T||||||,T|intron_variant|MODIFIER|JMJD4|JMJD4|transcript|NM_001161465.1|protein_coding|5/5|c.1060-70G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=881;p3_1000G_AF=0.175919;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=21127;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.1531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227920447;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,15:38:99:348,0,772
chr1	227734939	rs2273938	T	C	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=1.05;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273938;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding||c.-471T>C|||||57|,C|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding||c.-471T>C|||||57|,C|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene||n.-57T>C|||||57|,C|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding||c.-12798T>C|||||57|,C|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene||n.-57T>C|||||57|,C|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene||n.-57T>C|||||57|,C|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding||c.-12798T>C|||||756|,C|intron_variant|MODIFIER|JMJD4|JMJD4|transcript|NM_023007.2|protein_coding|1/5|c.400+73A>G||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|3/6|c.-46+3192T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|1/4|c.-46+6153T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|2/5|c.-46+3192T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.269+6153T>C||||||,C|intron_variant|MODIFIER|JMJD4|JMJD4|transcript|NM_001161465.1|protein_coding|1/5|c.400+73A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=790;p3_1000G_AF=0.157748;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=13369;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227922640;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:94:94,0,196
chr1	227735217	rs2295994	A	C	841.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.18;SOR=0.514;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2295994;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|JMJD4|JMJD4|transcript|NM_023007.2|protein_coding|1/6|c.195T>G|p.Asp65Glu|195/2595|195/1392|65/463||,C|missense_variant|MODERATE|JMJD4|JMJD4|transcript|NM_001161465.1|protein_coding|1/6|c.195T>G|p.Asp65Glu|195/2547|195/1344|65/447||,C|5_prime_UTR_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding|1/5|c.-193A>C|||||193|,C|5_prime_UTR_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding|1/5|c.-193A>C|||||193|,C|5_prime_UTR_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding|1/6|c.-425A>C|||||12520|,C|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding||c.-12520A>C|||||478|,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|3/6|c.-46+3470A>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|1/4|c.-46+6431A>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|2/5|c.-46+3470A>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.269+6431A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene|1/4|n.222A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene|1/6|n.222A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene|1/4|n.222A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2080;p3_1000G_AF=0.415335;p3_1000G_AFR_AF=0.4682;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=12997;p3_1000G_EAS_AF=0.3671;p3_1000G_EUR_AF=0.3976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227922918;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1536,2512;ESP6500_AA_GTC=358,820,846;ESP6500_CDS_SIZES=NM_053052.3:1395,NM_023007.2:1392,NM_001161465.1:1344;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=6;ESP6500_EA_AC=3051,5001;ESP6500_EA_GTC=653,1745,1628;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053052.3:utr-5,NM_023007.2:missense,NM_001161465.1:missense;ESP6500_GL=JMJD4,SNAP47;ESP6500_GRCh38_POSITION=1:227735217;ESP6500_GS=.,45,45;ESP6500_GTC=1011,2565,2474;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_053052.3:c.-193A>C,NM_023007.2:c.195T>G,NM_001161465.1:c.195T>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_023007.2:p.(D65E),NM_001161465.1:p.(D65E);ESP6500_MAF=37.8912,37.9447,37.9091;ESP6500_PH=.,benign:0.001,benign:0.001;ESP6500_TAC=4587,7513	GT:AD:DP:GQ:PL	0/1:33,34:67:99:870,0,758
chr1	227735380	rs7419238	G	A	1990.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.28;SOR=1.263;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7419238;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|JMJD4|JMJD4|transcript|NM_023007.2|protein_coding|1/6|c.32C>T|p.Ala11Val|32/2595|32/1392|11/463||,A|missense_variant|MODERATE|JMJD4|JMJD4|transcript|NM_001161465.1|protein_coding|1/6|c.32C>T|p.Ala11Val|32/2547|32/1344|11/447||,A|5_prime_UTR_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding|1/5|c.-30G>A|||||30|,A|5_prime_UTR_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding|1/5|c.-30G>A|||||30|,A|5_prime_UTR_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding|1/6|c.-262G>A|||||12357|,A|upstream_gene_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding||c.-12357G>A|||||315|,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|3/6|c.-46+3633G>A||||||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|1/4|c.-46+6594G>A||||||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|2/5|c.-46+3633G>A||||||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.269+6594G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene|1/4|n.385G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene|1/6|n.385G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene|1/4|n.385G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=11222;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227923081;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4035,1;ESP6500_AA_GTC=2017,1,0;ESP6500_CDS_SIZES=NM_053052.3:1395,NM_023007.2:1392,NM_001161465.1:1344;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=7;ESP6500_EA_AC=8000,0;ESP6500_EA_GTC=4000,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_053052.3:utr-5,NM_023007.2:missense,NM_001161465.1:missense;ESP6500_GL=JMJD4,SNAP47;ESP6500_GRCh38_POSITION=1:227735380;ESP6500_GS=.,64,64;ESP6500_GTC=6017,1,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_053052.3:c.-30G>A,NM_023007.2:c.32C>T,NM_001161465.1:c.32C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_023007.2:p.(A11V),NM_001161465.1:p.(A11V);ESP6500_MAF=0.0,0.0248,0.0083;ESP6500_PH=.,benign:0.0,benign:0.0;ESP6500_TAC=12035,1	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2019,204,0
chr1	227747579	rs2236361	C	T	472.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236361;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding|1/4|c.91-113C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|3/6|c.-45-113C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|1/4|c.-45-113C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|2/5|c.-45-113C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.270-11416C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding|1/4|c.91-113C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene|1/3|n.505-11416C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding|2/5|c.-45-113C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene|1/5|n.505-113C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene|1/3|n.505-11416C>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding|1/4|c.-45-113C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3746;p3_1000G_AF=0.748003;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=21085;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.5567;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227935280;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:501,42,0
chr1	227747654	rs2236360	T	C	1063.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.24;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2236360;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding|1/4|c.91-38T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|3/6|c.-45-38T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|1/4|c.-45-38T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|2/5|c.-45-38T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.270-11341T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding|1/4|c.91-38T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene|1/3|n.505-11341T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding|2/5|c.-45-38T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene|1/5|n.505-38T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene|1/3|n.505-11341T>C||||||,C|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding|1/4|c.-45-38T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3737;p3_1000G_AF=0.746206;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=21237;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.5567;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227935355;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3943,463;ESP6500_AA_AGE=214.1+/-233.5;ESP6500_AA_GTC=1773,397,33;ESP6500_CDS_SIZES=NM_053052.3:1395;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=37;ESP6500_EA_AC=4894,3706;ESP6500_EA_AGE=516.1+/-378.7;ESP6500_EA_GTC=1397,2100,803;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053052.3:intron;ESP6500_GL=SNAP47;ESP6500_GRCh38_POSITION=1:227747654;ESP6500_GTC=3170,2497,836;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_053052.3:c.91-38T>C;ESP6500_MAF=43.093,10.5084,32.0544;ESP6500_TAC=8837,4169	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1092,96,0
chr1	227747743	rs2236359	A	G	746.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.19;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=6.22;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.878;SOR=1.758;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236359;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding|2/5|c.142A>G|p.Arg48Gly|556/2367|142/1395|48/464||,G|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|4/7|c.7A>G|p.Arg3Gly|429/2240|7/1260|3/419||,G|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|2/5|c.7A>G|p.Arg3Gly|321/2132|7/1260|3/419||,G|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|3/6|c.7A>G|p.Arg3Gly|484/2295|7/1260|3/419||,G|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding|2/5|c.142A>G|p.Arg48Gly|556/2844|142/1341|48/446||,G|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding|3/6|c.7A>G|p.Arg3Gly|653/2464|7/1260|3/419||,G|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding|2/5|c.7A>G|p.Arg3Gly|88/1899|7/1260|3/419||,G|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.270-11252A>G||||||,G|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene|1/3|n.505-11252A>G||||||,G|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene|1/3|n.505-11252A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene|2/6|n.556A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2100;p3_1000G_AF=0.419329;p3_1000G_AFR_AF=0.4826;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=20212;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227935444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1937,2469;ESP6500_AA_AGE=549.3+/-377.7;ESP6500_AA_GTC=427,1083,693;ESP6500_CDS_SIZES=NM_053052.3:1395;ESP6500_CG=1.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=72;ESP6500_EA_AC=3550,5050;ESP6500_EA_AGE=515.5+/-378.6;ESP6500_EA_GTC=722,2106,1472;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_053052.3:missense;ESP6500_GL=SNAP47;ESP6500_GRCh38_POSITION=1:227747743;ESP6500_GS=125;ESP6500_GTC=1149,3189,2165;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_053052.3:c.142A>G;ESP6500_HGVS_PROTEIN_VAR=NM_053052.3:p.(R48G);ESP6500_MAF=41.2791,43.9628,42.1882;ESP6500_PH=benign:0.001;ESP6500_TAC=5487,7519	GT:AD:DP:GQ:PL	0/1:31,27:58:99:775,0,812
chr1	227748061	rs2236358	G	A	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.725;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=3.28;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.008;SOR=1.115;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236358;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding|2/5|c.460G>A|p.Val154Met|874/2367|460/1395|154/464||,A|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|4/7|c.325G>A|p.Val109Met|747/2240|325/1260|109/419||,A|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|2/5|c.325G>A|p.Val109Met|639/2132|325/1260|109/419||,A|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|3/6|c.325G>A|p.Val109Met|802/2295|325/1260|109/419||,A|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding|2/5|c.460G>A|p.Val154Met|874/2844|460/1341|154/446||,A|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding|3/6|c.325G>A|p.Val109Met|971/2464|325/1260|109/419||,A|missense_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding|2/5|c.325G>A|p.Val109Met|406/1899|325/1260|109/419||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|1/3|n.270-10934G>A||||||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene|1/3|n.505-10934G>A||||||,A|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene|1/3|n.505-10934G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene|2/6|n.874G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=738;p3_1000G_AF=0.147364;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=20552;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.0457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227935762;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=479,3927;ESP6500_AA_AGE=222.0+/-238.9;ESP6500_AA_GTC=29,421,1753;ESP6500_CDS_SIZES=NM_053052.3:1395;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=48;ESP6500_EA_AC=390,8210;ESP6500_EA_AGE=124.6+/-183.3;ESP6500_EA_GTC=10,370,3920;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_053052.3:missense;ESP6500_GL=SNAP47;ESP6500_GRCh38_POSITION=1:227748061;ESP6500_GS=21;ESP6500_GTC=39,791,5673;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_053052.3:c.460G>A;ESP6500_HGVS_PROTEIN_VAR=NM_053052.3:p.(V154M);ESP6500_MAF=4.5349,10.8715,6.6815;ESP6500_PH=probably-damaging:0.99;ESP6500_TAC=869,12137	GT:AD:DP:GQ:PL	0/1:41,28:69:99:654,0,1152
chr1	227775790	rs754224	G	T	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.473;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.325;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs754224;dbSNPBuildID=86;ANN=T|missense_variant&splice_region_variant|MODERATE|SNAP47|SNAP47|transcript|NM_001323935.1|protein_coding|5/5|c.1250G>T|p.Gly417Val|1664/2844|1250/1341|417/446||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|SNAP47|SNAP47|transcript|NR_136657.1|pseudogene|4/4|n.1122G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_053052.3|protein_coding|4/4|c.1249-4737G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323933.1|protein_coding|6/6|c.1114-4737G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323930.1|protein_coding|4/4|c.1114-4737G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323932.1|protein_coding|5/5|c.1114-4737G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136654.1|pseudogene|3/3|n.886-4737G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323931.1|protein_coding|5/5|c.1114-4737G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136655.1|pseudogene|5/5|n.1779-4737G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NR_136656.1|pseudogene|3/3|n.1121-4737G>T||||||,T|intron_variant|MODIFIER|SNAP47|SNAP47|transcript|NM_001323934.1|protein_coding|4/4|c.1114-4737G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=701;p3_1000G_AF=0.139976;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=20805;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.1441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227963491;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,14:31:99:327,0,524
chr1	227815948	rs45576341	C	T	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.791;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=0.214;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45576341;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|PRSS38|PRSS38|transcript|NM_183062.2|protein_coding|1/4|c.148+84C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=452;p3_1000G_AF=0.0902556;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=10861;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228003649;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,6:22:99:124,0,488
chr1	227816045	rs59917153	C	T	41.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.879;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=0;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59917153;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|PRSS38|PRSS38|transcript|NM_183062.2|protein_coding|1/4|c.149-45C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=450;p3_1000G_AF=0.0898562;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=10908;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228003746;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=215,4167;ESP6500_AA_GTC=4,207,1980;ESP6500_CDS_SIZES=NM_183062.2:981;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=27;ESP6500_EA_AC=211,8347;ESP6500_EA_GTC=1,209,4069;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183062.2:intron;ESP6500_GL=PRSS38;ESP6500_GRCh38_POSITION=1:227816045;ESP6500_GTC=5,416,6049;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_183062.2:c.149-45C>T;ESP6500_MAF=2.4655,4.9064,3.2921;ESP6500_TAC=426,12514	GT:AD:DP:GQ:PL	0/1:12,3:15:70:70,0,369
chr1	227816138	rs79840641	C	T	427.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.238;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.225;SOR=0.738;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79840641;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|PRSS38|PRSS38|transcript|NM_183062.2|protein_coding|2/5|c.197C>T|p.Ala66Val|197/1243|197/981|66/326||;p3_1000G_AA=C|||;p3_1000G_AC=633;p3_1000G_AF=0.126398;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=13767;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.1322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228003839;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=123,4283;ESP6500_AA_AGE=89.7+/-128.4;ESP6500_AA_GTC=0,123,2080;ESP6500_CDS_SIZES=NM_183062.2:981;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=70;ESP6500_EA_AC=1257,7341;ESP6500_EA_AGE=247.2+/-275.4;ESP6500_EA_GTC=86,1085,3128;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_183062.2:missense;ESP6500_GL=PRSS38;ESP6500_GRCh38_POSITION=1:227816138;ESP6500_GS=64;ESP6500_GTC=86,1208,5208;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_183062.2:c.197C>T;ESP6500_HGVS_PROTEIN_VAR=NM_183062.2:p.(A66V);ESP6500_MAF=14.6197,2.7916,10.6121;ESP6500_PH=possibly-damaging:0.892;ESP6500_TAC=1380,11624	GT:AD:DP:GQ:PL	0/1:21,19:40:99:456,0,576
chr1	227845496	rs9426581	A	G	432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.873;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.45;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9426581;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|PRSS38|PRSS38|transcript|NM_183062.2|protein_coding|4/5|c.610A>G|p.Met204Val|610/1243|610/981|204/326||;p3_1000G_AA=G|||;p3_1000G_AC=3993;p3_1000G_AF=0.797324;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=17895;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.8439;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228033197;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3505,901;ESP6500_AA_AGE=348.7+/-310.1;ESP6500_AA_GTC=1407,691,105;ESP6500_CDS_SIZES=NM_183062.2:981;ESP6500_CG=3.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=85;ESP6500_EA_AC=7390,1210;ESP6500_EA_AGE=243.8+/-273.2;ESP6500_EA_GTC=3165,1060,75;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_183062.2:missense;ESP6500_GL=PRSS38;ESP6500_GRCh38_POSITION=1:227845496;ESP6500_GS=21;ESP6500_GTC=4572,1751,180;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_183062.2:c.610A>G;ESP6500_HGVS_PROTEIN_VAR=NM_183062.2:p.(M204V);ESP6500_MAF=14.0698,20.4494,16.231;ESP6500_PH=benign:0.0;ESP6500_TAC=10895,2111	GT:AD:DP:GQ:PL	0/1:27,20:47:99:461,0,770
chr1	227845632	rs16848162	T	A	571.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.157;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=1.46;SOR=0.957;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16848162;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|PRSS38|PRSS38|transcript|NM_183062.2|protein_coding|4/4|c.726+20T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=654;p3_1000G_AF=0.130591;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=21026;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.1332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228033333;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=138,4268;ESP6500_AA_AGE=98.5+/-137.1;ESP6500_AA_GTC=1,136,2066;ESP6500_CDS_SIZES=NM_183062.2:981;ESP6500_CG=0.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=134;ESP6500_EA_AC=1279,7321;ESP6500_EA_AGE=253.9+/-279.4;ESP6500_EA_GTC=86,1107,3107;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183062.2:intron;ESP6500_GL=PRSS38;ESP6500_GRCh38_POSITION=1:227845632;ESP6500_GTC=87,1243,5173;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_183062.2:c.726+20T>A;ESP6500_MAF=14.8721,3.1321,10.895;ESP6500_TAC=1417,11589	GT:AD:DP:GQ:PL	0/1:25,24:49:99:600,0,698
chr1	227924420	rs4653889	A	G	593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.284;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.285;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4653889;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|WNT9A|WNT9A|transcript|NM_003395.2|protein_coding|2/3|c.353-20T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2585;p3_1000G_AF=0.516174;p3_1000G_AFR_AF=0.6861;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=14154;p3_1000G_EAS_AF=0.3899;p3_1000G_EUR_AF=0.4801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228112121;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2953,1453;ESP6500_AA_AGE=456.5+/-351.3;ESP6500_AA_GTC=992,969,242;ESP6500_CDS_SIZES=NM_003395.2:1098;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=36;ESP6500_EA_AC=4463,4137;ESP6500_EA_AGE=554.2+/-386.4;ESP6500_EA_GTC=1143,2177,980;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003395.2:intron;ESP6500_GL=WNT9A;ESP6500_GRCh38_POSITION=1:227924420;ESP6500_GTC=2135,3146,1222;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003395.2:c.353-20T>C;ESP6500_MAF=48.1047,32.9778,42.9802;ESP6500_TAC=7416,5590	GT:AD:DP:GQ:PL	0/1:16,22:38:99:622,0,405
chr1	227925462	rs3795768	A	G	855.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795768;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|WNT9A|WNT9A|transcript|NM_003395.2|protein_coding|2/4|c.153T>C|p.Ala51Ala|241/1240|153/1098|51/365||;p3_1000G_AA=G|||;p3_1000G_AC=3444;p3_1000G_AF=0.6877;p3_1000G_AFR_AF=0.8752;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=14409;p3_1000G_EAS_AF=0.6091;p3_1000G_EUR_AF=0.67;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228113163;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3563,701;ESP6500_AA_GTC=1502,559,71;ESP6500_CDS_SIZES=NM_003395.2:1098;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=7;ESP6500_EA_AC=5999,2427;ESP6500_EA_GTC=2147,1705,361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003395.2:coding-synonymous;ESP6500_GL=WNT9A;ESP6500_GRCh38_POSITION=1:227925462;ESP6500_GTC=3649,2264,432;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003395.2:c.153T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003395.2:p.(A51);ESP6500_MAF=28.8037,16.44,24.6493;ESP6500_TAC=9562,3128	GT:AD:DP:GQ:PL	1/1:0,30:30:90:884,90,0
chr1	228059650	rs752107	T	C	114.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.98;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs752107;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|WNT3A|WNT3A|transcript|NM_033131.3|protein_coding|4/4|c.*185T>C|||||185|;p3_1000G_AA=C|||;p3_1000G_AC=3892;p3_1000G_AF=0.777157;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=12569;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.6909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228247351;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:143,15,0
chr1	228097290	rs2070960	C	T	802.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.359;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-2.013;SOR=0.442;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2070960;dbSNPBuildID=96;ANN=T|downstream_gene_variant|MODIFIER|C1orf35|C1orf35|transcript|NM_024319.3|protein_coding||c.*3841G>A|||||3437|,T|downstream_gene_variant|MODIFIER|C1orf35|C1orf35|transcript|NR_130975.1|pseudogene||n.*3437G>A|||||3437|,T|intron_variant|MODIFIER|ARF1|ARF1|transcript|NM_001024226.1|protein_coding|2/4|c.148+28C>T||||||,T|intron_variant|MODIFIER|ARF1|ARF1|transcript|NM_001658.3|protein_coding|2/4|c.148+28C>T||||||,T|intron_variant|MODIFIER|ARF1|ARF1|transcript|NM_001024227.1|protein_coding|2/4|c.148+28C>T||||||,T|intron_variant|MODIFIER|ARF1|ARF1|transcript|NM_001024228.1|protein_coding|2/4|c.148+28C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MIR3620|MIR3620|transcript|NR_037415.1|pseudogene|1/1|n.28C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=475;p3_1000G_AF=0.0948482;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=18274;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228284991;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=336,4070;ESP6500_AA_AGE=176.2+/-205.4;ESP6500_AA_GTC=9,318,1876;ESP6500_CDS_SIZES=NM_001658.3:546,NM_001024228.1:546,NM_001024227.1:546,NM_001024226.1:546;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=56;ESP6500_EA_AC=666,7934;ESP6500_EA_AGE=169.6+/-220.9;ESP6500_EA_GTC=28,610,3662;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001658.3:intron,NM_001024228.1:intron,NM_001024227.1:intron,NM_001024226.1:intron;ESP6500_GL=ARF1;ESP6500_GRCh38_POSITION=1:228097290;ESP6500_GTC=37,928,5538;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001658.3:c.148+28C>T,NM_001024228.1:c.148+28C>T,NM_001024227.1:c.148+28C>T,NM_001024226.1:c.148+28C>T;ESP6500_MAF=7.7442,7.626,7.7041;ESP6500_TAC=1002,12004	GT:AD:DP:GQ:PL	0/1:33,32:65:99:831,0,1018
chr1	228145951	rs11577976	G	A	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.916;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=0.2;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11577976;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|GJC2|GJC2|transcript|NM_020435.3|protein_coding||c.-11808G>A|||||3763|,A|intron_variant|MODIFIER|GUK1|GUK1|transcript|NM_001242840.1|protein_coding|2/6|c.176-75G>A||||||,A|intron_variant|MODIFIER|GUK1|GUK1|transcript|NM_001242839.1|protein_coding|2/7|c.113-75G>A||||||,A|intron_variant|MODIFIER|GUK1|GUK1|transcript|NM_000858.5|protein_coding|3/8|c.113-75G>A||||||,A|intron_variant|MODIFIER|GUK1|GUK1|transcript|NM_001159390.1|protein_coding|2/7|c.176-75G>A||||||,A|intron_variant|MODIFIER|GUK1|GUK1|transcript|NM_001159391.1|protein_coding|2/7|c.113-75G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=440;p3_1000G_AF=0.0878594;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=18348;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228333652;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=117,1267;ESP6500_AA_GTC=2,113,577;ESP6500_CDS_SIZES=NM_001242840.1:726,NM_001242839.1:594,NM_001159391.1:594,NM_001159390.1:657,NM_000858.5:594;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=136,3046;ESP6500_EA_GTC=1,134,1456;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001242840.1:intron,NM_001242839.1:intron,NM_001159391.1:intron,NM_001159390.1:intron,NM_000858.5:intron;ESP6500_GL=GUK1;ESP6500_GRCh38_POSITION=1:228145951;ESP6500_GTC=3,247,2033;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001242840.1:c.176-75G>A,NM_001242839.1:c.113-75G>A,NM_001159391.1:c.113-75G>A,NM_001159390.1:c.176-75G>A,NM_000858.5:c.113-75G>A;ESP6500_MAF=4.274,8.4538,5.541;ESP6500_TAC=253,4313	GT:AD:DP:GQ:PL	0/1:12,18:30:99:515,0,309
chr1	228147424	rs1803695	C	T	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.441;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.704;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.094;SOR=0.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1803695;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|GUK1|GUK1|transcript|NM_001242840.1|protein_coding|5/7|c.333C>T|p.Ala111Ala|408/903|333/726|111/241||,T|synonymous_variant|LOW|GUK1|GUK1|transcript|NM_001242839.1|protein_coding|5/8|c.270C>T|p.Ala90Ala|348/929|270/594|90/197||,T|synonymous_variant|LOW|GUK1|GUK1|transcript|NM_000858.5|protein_coding|6/9|c.270C>T|p.Ala90Ala|573/1154|270/594|90/197||,T|synonymous_variant|LOW|GUK1|GUK1|transcript|NM_001159390.1|protein_coding|5/8|c.333C>T|p.Ala111Ala|408/989|333/657|111/218||,T|synonymous_variant|LOW|GUK1|GUK1|transcript|NM_001159391.1|protein_coding|5/8|c.270C>T|p.Ala90Ala|322/903|270/594|90/197||,T|upstream_gene_variant|MODIFIER|GJC2|GJC2|transcript|NM_020435.3|protein_coding||c.-10335C>T|||||2290|;p3_1000G_AA=C|||;p3_1000G_AC=435;p3_1000G_AF=0.086861;p3_1000G_AFR_AF=0.0734;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=16787;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.0358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228335125;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=365,4041;ESP6500_AA_AGE=181.9+/-209.8;ESP6500_AA_GTC=7,351,1845;ESP6500_CDS_SIZES=NM_001242840.1:726,NM_001242839.1:594,NM_001159391.1:594,NM_001159390.1:657,NM_000858.5:594;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=76;ESP6500_EA_AC=350,8250;ESP6500_EA_AGE=119.0+/-178.4;ESP6500_EA_GTC=9,332,3959;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001242840.1:coding-synonymous,NM_001242839.1:coding-synonymous,NM_001159391.1:coding-synonymous,NM_001159390.1:coding-synonymous,NM_000858.5:coding-synonymous;ESP6500_GL=GUK1;ESP6500_GRCh38_POSITION=1:228147424;ESP6500_GTC=16,683,5804;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001242840.1:c.333C>T,NM_001242839.1:c.270C>T,NM_001159391.1:c.270C>T,NM_001159390.1:c.333C>T,NM_000858.5:c.270C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001242840.1:p.(A111),NM_001242839.1:p.(A90),NM_001159391.1:p.(A90),NM_001159390.1:p.(A111),NM_000858.5:p.(A90);ESP6500_MAF=4.0698,8.2842,5.4975;ESP6500_TAC=715,12291	GT:AD:DP:GQ:PL	0/1:22,22:44:99:567,0,563
chr1	228166080	rs13375853;382792	C	G	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.027;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.947;SOR=0.711;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13375853;dbSNPBuildID=121;ANN=G|synonymous_variant|LOW|IBA57|IBA57|transcript|NM_001010867.3|protein_coding|1/3|c.264C>G|p.Ala88Ala|273/7824|264/1071|88/356||,G|upstream_gene_variant|MODIFIER|IBA57-AS1|IBA57-AS1|transcript|NR_103539.1|pseudogene||n.-1232G>C|||||1232|,G|upstream_gene_variant|MODIFIER|IBA57-AS1|IBA57-AS1|transcript|NR_103540.1|pseudogene||n.-568G>C|||||568|;p3_1000G_AA=.|||;p3_1000G_AC=135;p3_1000G_AF=0.0269569;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=8554;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228353781;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=38,3580;ESP6500_AA_GTC=0,38,1771;ESP6500_CDS_SIZES=NM_001010867.2:1071;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=3;ESP6500_EA_AC=4,7308;ESP6500_EA_GTC=0,4,3652;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001010867.2:coding-synonymous;ESP6500_GL=IBA57;ESP6500_GRCh38_POSITION=1:228166080;ESP6500_GTC=0,42,5423;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001010867.2:c.264C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001010867.2:p.(A88);ESP6500_MAF=0.0547,1.0503,0.3843;ESP6500_TAC=42,10888;CLINVAR_ALLELEID=364869;CLINVAR_CLNDISDB=MedGen:C3809165,OMIM:615330,Orphanet:ORPHA363424|MedGen:C4225322,OMIM:616451,Orphanet:ORPHA468661|MedGen:CN169374;CLINVAR_CLNDN=Multiple_mitochondrial_dysfunctions_syndrome_3|Spastic_paraplegia_74,_autosomal_recessive|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.228166080C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=IBA57:200205;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13375853	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,11:27:99:0|1:228166066_G_A:315,0,449
chr1	228204107	rs11800309	G	T	432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.428;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.444;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.333;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11800309;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding||c.-7677G>T|||||4023|,T|upstream_gene_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding||c.-7677G>T|||||4023|,T|upstream_gene_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding||c.-7677G>T|||||4023|,T|downstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene||n.*368C>A|||||368|,T|non_coding_transcript_exon_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene|2/2|n.283C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=884;p3_1000G_AF=0.176518;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=19028;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228391808;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,19:31:99:461,0,275
chr1	228211781	rs11804508	C	G	2649.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=0.812;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11804508;dbSNPBuildID=120;ANN=G|5_prime_UTR_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|2/116|c.-3C>G|||||3|,G|5_prime_UTR_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|2/81|c.-3C>G|||||3|,G|5_prime_UTR_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|2/105|c.-3C>G|||||3|,G|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene|2/3|n.630+740G>C||||||,G|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene|1/1|n.234+1641G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3611;p3_1000G_AF=0.721046;p3_1000G_AFR_AF=0.6815;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=13643;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.6362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228399482;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2616,1238;ESP6500_AA_GTC=920,776,231;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-2.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=9;ESP6500_EA_AC=4947,3125;ESP6500_EA_GTC=1585,1777,674;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:utr-5,NM_001098623.1:utr-5;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228211781;ESP6500_GTC=2505,2553,905;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.-3C>G,NM_001098623.1:c.-3C>G;ESP6500_MAF=38.7141,32.1225,36.5839;ESP6500_TAC=7563,4363	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2678,261,0
chr1	228211970	rs117484136	G	A	662.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.923;SOR=0.751;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117484136;dbSNPBuildID=132;ANN=A|structural_interaction_variant|HIGH|OBSCN|OBSCN|interaction|4C4K:O_32-O_63:NM_052843.3|protein_coding|2/81|c.187G>A||||||,A|structural_interaction_variant|HIGH|OBSCN|OBSCN|interaction|4C4K:O_33-O_63:NM_052843.3|protein_coding|2/81|c.187G>A||||||,A|structural_interaction_variant|HIGH|OBSCN|OBSCN|interaction|4C4K:O_32-O_63:NM_001098623.2|protein_coding|2/105|c.187G>A||||||,A|structural_interaction_variant|HIGH|OBSCN|OBSCN|interaction|4C4K:O_33-O_63:NM_001098623.2|protein_coding|2/105|c.187G>A||||||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|2/116|c.187G>A|p.Asp63Asn|261/26925|187/26772|63/8923||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|2/81|c.187G>A|p.Asp63Asn|261/20432|187/19863|63/6620||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|2/105|c.187G>A|p.Asp63Asn|261/24060|187/23907|63/7968||,A|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene|2/3|n.630+551C>T||||||,A|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene|1/1|n.234+1452C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=123;p3_1000G_AF=0.0245607;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=10690;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228399671;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=74,4000;ESP6500_AA_GTC=1,72,1964;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=12;ESP6500_EA_AC=15,8287;ESP6500_EA_GTC=0,15,4136;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228211970;ESP6500_GS=23,23;ESP6500_GTC=1,87,6100;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.187G>A,NM_001098623.1:c.187G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(D63N),NM_001098623.1:p.(D63N);ESP6500_MAF=0.1807,1.8164,0.7191;ESP6500_PH=possibly-damaging:0.881,possibly-damaging:0.881;ESP6500_TAC=89,12287	GT:AD:DP:GQ:PL	0/1:21,26:47:99:691,0,484
chr1	228212065	rs55971985	T	C	1349.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=1.251;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55971985;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|2/116|c.282T>C|p.Ala94Ala|356/26925|282/26772|94/8923||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|2/81|c.282T>C|p.Ala94Ala|356/20432|282/19863|94/6620||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|2/105|c.282T>C|p.Ala94Ala|356/24060|282/23907|94/7968||,C|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene|2/3|n.630+456A>G||||||,C|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene|1/1|n.234+1357A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3637;p3_1000G_AF=0.726238;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=9624;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.6372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228399766;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2546,1150;ESP6500_AA_GTC=933,680,235;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-9.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=7;ESP6500_EA_AC=4756,2942;ESP6500_EA_GTC=1563,1630,656;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228212065;ESP6500_GTC=2496,2310,891;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.282T>C,NM_001098623.1:c.282T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(A94),NM_001098623.1:p.(A94);ESP6500_MAF=38.2177,31.1147,35.9136;ESP6500_TAC=7302,4092	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1378,141,0
chr1	228212945	rs3121192	T	C	327.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3121192;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene|1/3|n.244-38A>G||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|2/115|c.988+174T>C||||||,C|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene|1/1|n.234+477A>G||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|2/80|c.988+174T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|2/104|c.988+174T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3604;p3_1000G_AF=0.719649;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=8365;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228400646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:228212945_T_C:356,24,0
chr1	228212952	rs3121191	A	T	286.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.96;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3121191;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene|1/3|n.244-45T>A||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|2/115|c.988+181A>T||||||,T|intron_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene|1/1|n.234+470T>A||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|2/80|c.988+181A>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|2/104|c.988+181A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3604;p3_1000G_AF=0.719649;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=7898;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228400653;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:228212945_T_C:315,21,0
chr1	228214346	rs1620111	A	G	1749.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=0.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1620111;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|4/116|c.1431A>G|p.Leu477Leu|1505/26925|1431/26772|477/8923||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|4/81|c.1431A>G|p.Leu477Leu|1505/20432|1431/19863|477/6620||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|4/105|c.1431A>G|p.Leu477Leu|1505/24060|1431/23907|477/7968||,G|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene||n.-682T>C|||||682|,G|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene||n.-691T>C|||||691|;p3_1000G_AA=G|||;p3_1000G_AC=3605;p3_1000G_AF=0.719848;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=12933;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.6372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228402047;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2874,1402;ESP6500_AA_GTC=980,914,244;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=53;ESP6500_EA_AC=5149,3299;ESP6500_EA_GTC=1591,1967,666;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228214346;ESP6500_GTC=2571,2881,910;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.1431A>G,NM_001098623.1:c.1431A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(L477),NM_001098623.1:p.(L477);ESP6500_MAF=39.0507,32.7877,36.9459;ESP6500_TAC=8023,4701	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1778,162,0
chr1	228214420	rs1771487	A	G	1178.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1771487;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|4/116|c.1505A>G|p.Gln502Arg|1579/26925|1505/26772|502/8923||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|4/81|c.1505A>G|p.Gln502Arg|1579/20432|1505/19863|502/6620||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|4/105|c.1505A>G|p.Gln502Arg|1579/24060|1505/23907|502/7968||,G|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene||n.-756T>C|||||756|,G|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene||n.-765T>C|||||765|;p3_1000G_AA=A|||;p3_1000G_AC=3604;p3_1000G_AF=0.719649;p3_1000G_AFR_AF=0.6815;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=13804;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.6362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228402121;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2861,1453;ESP6500_AA_GTC=966,929,262;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=74;ESP6500_EA_AC=5135,3331;ESP6500_EA_GTC=1588,1959,686;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228214420;ESP6500_GS=43,43;ESP6500_GTC=2554,2888,948;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.1505A>G,NM_001098623.1:c.1505A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(Q502R),NM_001098623.1:p.(Q502R);ESP6500_MAF=39.3456,33.681,37.4335;ESP6500_PH=benign:0.018,benign:0.018;ESP6500_TAC=7996,4784	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1207,105,0
chr1	228215391	rs77944446	C	T	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.225;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-0.146;SOR=0.942;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77944446;dbSNPBuildID=131;ANN=T|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene||n.-1727G>A|||||1727|,T|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene||n.-1736G>A|||||1736|,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|5/115|c.1829-172C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|5/80|c.1829-172C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|5/104|c.1829-172C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=152;p3_1000G_AF=0.0303514;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=18130;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228403092;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,10:24:99:201,0,417
chr1	228216196	rs6661539	T	C	629.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6661539;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene||n.-2532A>G|||||2532|,C|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene||n.-2541A>G|||||2541|,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|6/115|c.2096-225T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|6/80|c.2096-225T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|6/104|c.2096-225T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1185;p3_1000G_AF=0.236621;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=19770;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.333;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228403897;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:658,54,0
chr1	228216846	rs10157758	G	A	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.566;SOR=1.492;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10157758;dbSNPBuildID=119;ANN=A|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene||n.-3182C>T|||||3182|,A|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene||n.-3191C>T|||||3191|,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|7/115|c.2377+144G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|7/80|c.2377+144G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|7/104|c.2377+144G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=123;p3_1000G_AF=0.0245607;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=16166;p3_1000G_EAS_AF=0.0675;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228404547;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:111,0,99
chr1	228216967	rs3795777	T	C	647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795777;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073154.1|pseudogene||n.-3303A>G|||||3303|,C|upstream_gene_variant|MODIFIER|C1orf145|C1orf145|transcript|NR_073155.1|pseudogene||n.-3312A>G|||||3312|,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|7/115|c.2378-46T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|7/80|c.2378-46T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|7/104|c.2378-46T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1685;p3_1000G_AF=0.336462;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=18009;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228404668;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1649,2625;ESP6500_AA_GTC=338,973,826;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=11;ESP6500_EA_AC=3355,5131;ESP6500_EA_GTC=705,1945,1593;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228216967;ESP6500_GTC=1043,2918,2419;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.2378-46T>C,NM_001098623.1:c.2378-46T>C;ESP6500_MAF=39.5357,38.5821,39.2163;ESP6500_TAC=5004,7756	GT:AD:DP:GQ:PL	1/1:0,17:17:51:676,51,0
chr1	228219584	rs61537173	C	T	518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.532;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=5.648;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.65;SOR=0.187;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61537173;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|9/116|c.2914C>T|p.Arg972Cys|2988/26925|2914/26772|972/8923||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|8/80|c.2653+2296C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|8/104|c.2653+2296C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=154;p3_1000G_AF=0.0307508;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=19961;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228407285;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,21:48:99:547,0,765
chr1	228224405	rs1771482	T	C	979.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1771482;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|9/115|c.2930-54T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|8/80|c.2654-54T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|8/104|c.2654-54T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2064;p3_1000G_AF=0.412141;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19939;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228412106;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1008,87,0
chr1	228224526	rs1771480	T	C	3517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1771480;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|10/116|c.2997T>C|p.Ser999Ser|3071/26925|2997/26772|999/8923||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|9/81|c.2721T>C|p.Ser907Ser|2795/20432|2721/19863|907/6620||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|9/105|c.2721T>C|p.Ser907Ser|2795/24060|2721/23907|907/7968||;p3_1000G_AA=T|||;p3_1000G_AC=2066;p3_1000G_AF=0.41254;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=17552;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.3668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228412227;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3546,318,0
chr1	228224607	rs1757152	G	A	4082.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=138;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=0.768;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1757152;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|10/116|c.3078G>A|p.Ser1026Ser|3152/26925|3078/26772|1026/8923||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|9/81|c.2802G>A|p.Ser934Ser|2876/20432|2802/19863|934/6620||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|9/105|c.2802G>A|p.Ser934Ser|2876/24060|2802/23907|934/7968||;p3_1000G_AA=G|||;p3_1000G_AC=2066;p3_1000G_AF=0.41254;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19773;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.3678;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228412308;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2342,1864;ESP6500_AA_GTC=643,1056,404;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=59;ESP6500_EA_AC=3317,5133;ESP6500_EA_GTC=663,1991,1571;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228224607;ESP6500_GTC=1306,3047,1975;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.2802G>A,NM_001098623.1:c.2802G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(S934),NM_001098623.1:p.(S934);ESP6500_MAF=39.2544,44.3176,44.714;ESP6500_TAC=5659,6997	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4111,410,0
chr1	228224836	rs16848404	G	A	1416.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16848404;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|10/115|c.3205+102G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|9/80|c.2929+102G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|9/104|c.2929+102G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=403;p3_1000G_AF=0.0804712;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=19906;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228412537;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1445,132,0
chr1	228242996	rs1771456	A	G	455.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1771456;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|10/115|c.3206-187A>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|9/80|c.2930-187A>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|9/104|c.2930-187A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3087;p3_1000G_AF=0.616414;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=21161;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228430697;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:484,42,0
chr1	228243394	rs1771455	A	G	2312.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=1.852;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1771455;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|11/116|c.3417A>G|p.Thr1139Thr|3491/26925|3417/26772|1139/8923||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|10/81|c.3141A>G|p.Thr1047Thr|3215/20432|3141/19863|1047/6620||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|10/105|c.3141A>G|p.Thr1047Thr|3215/24060|3141/23907|1047/7968||;p3_1000G_AA=G|||;p3_1000G_AC=3088;p3_1000G_AF=0.616613;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=18464;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.6412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228431095;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3067,1103;ESP6500_AA_GTC=1120,827,138;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=45;ESP6500_EA_AC=5745,2669;ESP6500_EA_GTC=1990,1765,452;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228243394;ESP6500_GTC=3110,2592,590;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.3141A>G,NM_001098623.1:c.3141A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(T1047),NM_001098623.1:p.(T1047);ESP6500_MAF=31.7209,26.4508,29.9746;ESP6500_TAC=8812,3772	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2341,213,0
chr1	228244229	rs10916293	C	T	2664.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10916293;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|11/115|c.3482-67C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|10/80|c.3206-67C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|10/104|c.3206-67C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3089;p3_1000G_AF=0.616813;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=18740;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228431930;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2693,249,0
chr1	228244622	rs12077365	T	C	1776.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=2.348;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12077365;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|12/115|c.3757+51T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|11/80|c.3481+51T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|11/104|c.3481+51T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=417;p3_1000G_AF=0.0832668;p3_1000G_AFR_AF=0.1165;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=17481;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228432323;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=222,1762;ESP6500_AA_GTC=13,196,783;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=23,4183;ESP6500_EA_GTC=0,23,2080;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228244622;ESP6500_GTC=13,219,2863;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.3481+51T>C,NM_001098623.1:c.3481+51T>C;ESP6500_MAF=0.5468,11.1895,3.958;ESP6500_TAC=245,5945	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1805,153,0
chr1	228245516	rs2487384	A	G	3642.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=0.748;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2487384;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|13/116|c.3861A>G|p.Thr1287Thr|3935/26925|3861/26772|1287/8923||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|12/81|c.3585A>G|p.Thr1195Thr|3659/20432|3585/19863|1195/6620||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|12/105|c.3585A>G|p.Thr1195Thr|3659/24060|3585/23907|1195/7968||;p3_1000G_AA=G|||;p3_1000G_AC=3088;p3_1000G_AF=0.616613;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=17687;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.6412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228433217;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3040,1116;ESP6500_AA_GTC=1101,838,139;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=86;ESP6500_EA_AC=5725,2663;ESP6500_EA_GTC=1984,1757,453;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228245516;ESP6500_GTC=3085,2595,592;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.3585A>G,NM_001098623.1:c.3585A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(T1195),NM_001098623.1:p.(T1195);ESP6500_MAF=31.7477,26.8527,30.126;ESP6500_TAC=8765,3779	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3671,333,0
chr1	228245645	rs75801409	C	T	2315.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75801409;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|13/116|c.3990C>T|p.Cys1330Cys|4064/26925|3990/26772|1330/8923||,T|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|12/81|c.3714C>T|p.Cys1238Cys|3788/20432|3714/19863|1238/6620||,T|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|12/105|c.3714C>T|p.Cys1238Cys|3788/24060|3714/23907|1238/7968||;p3_1000G_AA=C|||;p3_1000G_AC=294;p3_1000G_AF=0.0587061;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=19064;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228433346;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=105,3959;ESP6500_AA_GTC=2,101,1929;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-8.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=93;ESP6500_EA_AC=23,8329;ESP6500_EA_GTC=0,23,4153;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228245645;ESP6500_GTC=2,124,6082;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.3714C>T,NM_001098623.1:c.3714C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(C1238),NM_001098623.1:p.(C1238);ESP6500_MAF=0.2754,2.5837,1.0309;ESP6500_TAC=128,12288	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2344,240,0
chr1	228246694	rs7517088	T	C	4403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=145;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=0.707;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7517088;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|14/116|c.4200T>C|p.Ala1400Ala|4274/26925|4200/26772|1400/8923||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|13/81|c.3924T>C|p.Ala1308Ala|3998/20432|3924/19863|1308/6620||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|13/105|c.3924T>C|p.Ala1308Ala|3998/24060|3924/23907|1308/7968||;p3_1000G_AA=C|||;p3_1000G_AC=3093;p3_1000G_AF=0.617612;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=20385;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.6412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228434395;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3010,1108;ESP6500_AA_GTC=1089,832,138;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=3.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=83;ESP6500_EA_AC=5752,2666;ESP6500_EA_GTC=1994,1764,451;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228246694;ESP6500_GTC=3083,2596,589;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.3924T>C,NM_001098623.1:c.3924T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(A1308),NM_001098623.1:p.(A1308);ESP6500_MAF=31.6702,26.9063,30.1053;ESP6500_TAC=8762,3774	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4432,434,0
chr1	228246766	rs7517108	T	C	3224.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.93;SOR=1.633;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7517108;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|14/116|c.4272T>C|p.Ala1424Ala|4346/26925|4272/26772|1424/8923||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|13/81|c.3996T>C|p.Ala1332Ala|4070/20432|3996/19863|1332/6620||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|13/105|c.3996T>C|p.Ala1332Ala|4070/24060|3996/23907|1332/7968||;p3_1000G_AA=t|||;p3_1000G_AC=3318;p3_1000G_AF=0.66254;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=19733;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.6421;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228434467;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3317,691;ESP6500_AA_GTC=1369,579,56;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-7.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=77;ESP6500_EA_AC=5702,2654;ESP6500_EA_GTC=1978,1746,454;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228246766;ESP6500_GTC=3347,2325,510;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.3996T>C,NM_001098623.1:c.3996T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(A1332),NM_001098623.1:p.(A1332);ESP6500_MAF=31.7616,17.2405,27.0544;ESP6500_TAC=9019,3345	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3253,303,0
chr1	228249902	rs6426494	T	C	2046.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426494;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|14/115|c.4310-63T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|13/80|c.4034-63T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|13/104|c.4034-63T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3324;p3_1000G_AF=0.663738;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=21993;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228437603;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:2075,156,0
chr1	228250071	rs12080655	G	A	4792.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=141;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=0.827;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12080655;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|15/116|c.4416G>A|p.Glu1472Glu|4490/26925|4416/26772|1472/8923||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|14/81|c.4140G>A|p.Glu1380Glu|4214/20432|4140/19863|1380/6620||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|14/105|c.4140G>A|p.Glu1380Glu|4214/24060|4140/23907|1380/7968||;p3_1000G_AA=G|||;p3_1000G_AC=306;p3_1000G_AF=0.0611022;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=16429;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228437772;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=221,3917;ESP6500_AA_GTC=8,205,1856;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=3.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=81;ESP6500_EA_AC=21,8375;ESP6500_EA_GTC=0,21,4177;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228250071;ESP6500_GTC=8,226,6033;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.4140G>A,NM_001098623.1:c.4140G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(E1380),NM_001098623.1:p.(E1380);ESP6500_MAF=0.2501,5.3407,1.9307;ESP6500_TAC=242,12292	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4821,422,0
chr1	228250197	rs117627593	C	T	1929.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.112;ClippingRankSum=0;DP=141;ExcessHet=3.0103;FS=2.2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.4;SOR=0.516;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117627593;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|15/116|c.4542C>T|p.Cys1514Cys|4616/26925|4542/26772|1514/8923||,T|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|14/81|c.4266C>T|p.Cys1422Cys|4340/20432|4266/19863|1422/6620||,T|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|14/105|c.4266C>T|p.Cys1422Cys|4340/24060|4266/23907|1422/7968||;p3_1000G_AA=C|||;p3_1000G_AC=84;p3_1000G_AF=0.0167732;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17893;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228437898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,4081;ESP6500_AA_GTC=0,1,2040;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-5.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=75;ESP6500_EA_AC=3,8347;ESP6500_EA_GTC=0,3,4172;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228250197;ESP6500_GTC=0,4,6212;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.4266C>T,NM_001098623.1:c.4266C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(C1422),NM_001098623.1:p.(C1422);ESP6500_MAF=0.0359,0.0245,0.0322;ESP6500_TAC=4,12428	GT:AD:DP:GQ:PL	0/1:63,78:141:99:1958,0,1652
chr1	228256617	rs7532144	T	G	2333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7532144;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|15/115|c.4586-34T>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|14/80|c.4310-34T>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|14/104|c.4310-34T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3090;p3_1000G_AF=0.617013;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=18843;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.6402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228444318;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3095,1125;ESP6500_AA_GTC=1127,841,142;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=34;ESP6500_EA_AC=5757,2683;ESP6500_EA_GTC=1994,1769,457;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228256617;ESP6500_GTC=3121,2610,599;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.4310-34T>G,NM_001098623.1:c.4310-34T>G;ESP6500_MAF=31.7891,26.6588,30.079;ESP6500_TAC=8852,3808	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2362,198,0
chr1	228256864	rs7532342	T	A	3027.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.88;QD=31.87;SOR=1.872;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7532342;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|16/116|c.4799T>A|p.Val1600Asp|4873/26925|4799/26772|1600/8923||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|15/81|c.4523T>A|p.Val1508Asp|4597/20432|4523/19863|1508/6620||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|15/105|c.4523T>A|p.Val1508Asp|4597/24060|4523/23907|1508/7968||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16233;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228444565;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3056,285,0
chr1	228257040	rs3795780	C	T	348.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795780;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|16/115|c.4861+114C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|15/80|c.4585+114C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|15/104|c.4585+114C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3090;p3_1000G_AF=0.617013;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=19228;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228444741;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:377,33,0
chr1	228264125	rs453140	C	T	3349.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=1.365;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs453140;dbSNPBuildID=80;ANN=T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|18/116|c.5147C>T|p.Ala1716Val|5221/26925|5147/26772|1716/8923||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|16/81|c.4595C>T|p.Ala1532Val|4669/20432|4595/19863|1532/6620||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|16/105|c.4595C>T|p.Ala1532Val|4669/24060|4595/23907|1532/7968||;p3_1000G_AA=C|||;p3_1000G_AC=1534;p3_1000G_AF=0.30631;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=18890;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.2823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228451826;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1025,3213;ESP6500_AA_GTC=112,801,1206;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=51;ESP6500_EA_AC=2373,6073;ESP6500_EA_GTC=356,1661,2206;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228264125;ESP6500_GS=64,64;ESP6500_GTC=468,2462,3412;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.4595C>T,NM_001098623.1:c.4595C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(A1532V),NM_001098623.1:p.(A1532V);ESP6500_MAF=28.0961,24.1859,26.7897;ESP6500_PH=benign:0.448,benign:0.448;ESP6500_TAC=3398,9286	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3378,327,0
chr1	228264331	rs55706639	G	A	2884.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=1.099;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55706639;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|18/116|c.5353G>A|p.Ala1785Thr|5427/26925|5353/26772|1785/8923||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|16/81|c.4801G>A|p.Ala1601Thr|4875/20432|4801/19863|1601/6620||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|16/105|c.4801G>A|p.Ala1601Thr|4875/24060|4801/23907|1601/7968||;p3_1000G_AA=G|||;p3_1000G_AC=286;p3_1000G_AF=0.0571086;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=17405;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228452032;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=100,4130;ESP6500_AA_GTC=2,96,2017;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=44;ESP6500_EA_AC=37,8411;ESP6500_EA_GTC=0,37,4187;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228264331;ESP6500_GS=58,58;ESP6500_GTC=2,133,6204;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.4801G>A,NM_001098623.1:c.4801G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(A1601T),NM_001098623.1:p.(A1601T);ESP6500_MAF=0.438,2.3641,1.0806;ESP6500_PH=probably-damaging:0.998,probably-damaging:0.998;ESP6500_TAC=137,12541	GT:AD:DP:GQ:PL	1/1:0,97:97:99:2913,290,0
chr1	228268446	rs878388	T	C	2609.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs878388;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|18/115|c.5414-84T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|16/80|c.4862-84T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|16/104|c.4862-84T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3361;p3_1000G_AF=0.671126;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=20995;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.671;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228456147;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2638,234,0
chr1	228273428	rs1188724	A	G	3694.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.9;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1188724;dbSNPBuildID=87;ANN=G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|21/116|c.6143A>G|p.His2048Arg|6217/26925|6143/26772|2048/8923||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|17/80|c.5138-342A>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|17/104|c.5138-342A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3473;p3_1000G_AF=0.69349;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=19047;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.663;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228461129;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3426,768;ESP6500_AA_GTC=1390,646,61;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=43;ESP6500_EA_AC=5859,2567;ESP6500_EA_GTC=2060,1739,414;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228273428;ESP6500_GTC=3450,2385,475;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.5138-342A>G,NM_001098623.1:c.5138-342A>G;ESP6500_MAF=30.4652,18.3119,26.4263;ESP6500_TAC=9285,3335	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3723,327,0
chr1	228273707	rs11398292;rs397701959;rs869120087	A	AG	667.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=0.784;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11398292;dbSNPBuildID=135,147,138;ANN=AG|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|21/115|c.6263-60dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|17/80|c.5138-60dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|17/104|c.5138-60dupG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,21:21:63:705,63,0
chr1	228276547	rs1188721	T	G	1550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.46;SOR=1.28;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1188721;dbSNPBuildID=87;ANN=G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|26/116|c.7443T>G|p.Asp2481Glu|7517/26925|7443/26772|2481/8923||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|22/81|c.6318T>G|p.Asp2106Glu|6392/20432|6318/19863|2106/6620||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|22/105|c.6318T>G|p.Asp2106Glu|6392/24060|6318/23907|2106/7968||;p3_1000G_AA=G|||;p3_1000G_AC=3483;p3_1000G_AF=0.695487;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=13144;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228464248;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3554,776;ESP6500_AA_GTC=1457,640,68;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=30;ESP6500_EA_AC=5934,2586;ESP6500_EA_GTC=2097,1740,423;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228276547;ESP6500_GS=45,45;ESP6500_GTC=3554,2380,491;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.6318T>G,NM_001098623.1:c.6318T>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(D2106E),NM_001098623.1:p.(D2106E);ESP6500_MAF=30.3521,17.9215,26.1634;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=9488,3362	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1579,135,0
chr1	228276575	rs1188722	T	C	1635.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.8;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1188722;dbSNPBuildID=87;ANN=C|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|26/116|c.7471T>C|p.Phe2491Leu|7545/26925|7471/26772|2491/8923||,C|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|22/81|c.6346T>C|p.Phe2116Leu|6420/20432|6346/19863|2116/6620||,C|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|22/105|c.6346T>C|p.Phe2116Leu|6420/24060|6346/23907|2116/7968||;p3_1000G_AA=C|||;p3_1000G_AC=3323;p3_1000G_AF=0.663538;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=14563;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.663;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228464276;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3119,1127;ESP6500_AA_GTC=1141,837,145;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=4.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=24;ESP6500_EA_AC=5899,2577;ESP6500_EA_GTC=2082,1735,421;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228276575;ESP6500_GS=22,22;ESP6500_GTC=3223,2572,566;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.6346T>C,NM_001098623.1:c.6346T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(F2116L),NM_001098623.1:p.(F2116L);ESP6500_MAF=30.4035,26.5426,29.1149;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=9018,3704	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1664,141,0
chr1	228277141	rs936885	C	G	1863.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs936885;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|27/115|c.7726-19C>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|23/80|c.6601-19C>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|23/104|c.6601-19C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3474;p3_1000G_AF=0.69369;p3_1000G_AFR_AF=0.8487;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=15999;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.659;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228464842;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3443,723;ESP6500_AA_GTC=1425,593,65;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=36;ESP6500_EA_AC=5863,2569;ESP6500_EA_GTC=2086,1691,439;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228277141;ESP6500_GTC=3511,2284,504;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.6601-19C>G,NM_001098623.1:c.6601-19C>G;ESP6500_MAF=30.4673,17.3548,26.1311;ESP6500_TAC=9306,3292	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1892,162,0
chr1	228277645	rs493945	A	G	1265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=104;ExcessHet=3.0103;FS=0.739;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.041;SOR=0.815;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs493945;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|29/116|c.8020A>G|p.Asn2674Asp|8094/26925|8020/26772|2674/8923||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|24/80|c.6755-109A>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|24/104|c.6755-109A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1653;p3_1000G_AF=0.330072;p3_1000G_AFR_AF=0.3585;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=15447;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228465346;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1294,0,1454
chr1	228277669	rs867599	T	G	4250.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=115;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs867599;dbSNPBuildID=86;ANN=G|splice_region_variant&intron_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|29/115|c.8041+3T>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|24/80|c.6755-85T>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|24/104|c.6755-85T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3353;p3_1000G_AF=0.669529;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=14665;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.67;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228465370;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,115:115:99:4279,346,0
chr1	228277702	rs13376694	G	T	4004.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=130;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=0.822;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13376694;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|29/115|c.8041+36G>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|24/80|c.6755-52G>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|24/104|c.6755-52G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=515;p3_1000G_AF=0.102835;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=12724;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228465403;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,130:130:99:4033,390,0
chr1	228280010	rs3795783	G	A	652.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.458;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=2.161;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.257;SOR=0.998;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795783;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|33/116|c.8873G>A|p.Arg2958Gln|8947/26925|8873/26772|2958/8923||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|28/81|c.7586G>A|p.Arg2529Gln|7660/20432|7586/19863|2529/6620||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|28/105|c.7586G>A|p.Arg2529Gln|7660/24060|7586/23907|2529/7968||;p3_1000G_AA=g|||;p3_1000G_AC=419;p3_1000G_AF=0.0836661;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=19444;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228467711;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP;ESP6500_AA_AC=77,4129;ESP6500_AA_GTC=2,73,2028;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=3.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=22;ESP6500_EA_AC=155,8283;ESP6500_EA_GTC=0,155,4064;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228280010;ESP6500_GS=43,43;ESP6500_GTC=2,228,6092;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.7586G>A,NM_001098623.1:c.7586G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(R2529Q),NM_001098623.1:p.(R2529Q);ESP6500_MAF=1.8369,1.8307,1.8349;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=232,12412	GT:AD:DP:GQ:PL	0/1:38,24:62:99:681,0,1085
chr1	228280543	rs12061320	G	A	1688.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=0.808;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12061320;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|35/116|c.9231G>A|p.Val3077Val|9305/26925|9231/26772|3077/8923||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|30/81|c.7944G>A|p.Val2648Val|8018/20432|7944/19863|2648/6620||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|30/105|c.7944G>A|p.Val2648Val|8018/24060|7944/23907|2648/7968||;p3_1000G_AA=g|||;p3_1000G_AC=569;p3_1000G_AF=0.113618;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=16189;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228468244;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA_AC=452,3880;ESP6500_AA_GTC=24,404,1738;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=51;ESP6500_EA_AC=156,8368;ESP6500_EA_GTC=0,156,4106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228280543;ESP6500_GTC=24,560,5844;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.7944G>A,NM_001098623.1:c.7944G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(V2648),NM_001098623.1:p.(V2648);ESP6500_MAF=1.8301,10.434,4.7293;ESP6500_TAC=608,12248	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1717,159,0
chr1	228282169	rs3795785	C	T	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.134;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.536;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.56;SOR=0.219;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795785;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|36/116|c.9721C>T|p.Arg3241Trp|9795/26925|9721/26772|3241/8923||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|31/81|c.8434C>T|p.Arg2812Trp|8508/20432|8434/19863|2812/6620||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|31/105|c.8434C>T|p.Arg2812Trp|8508/24060|8434/23907|2812/7968||;p3_1000G_AA=C|||;p3_1000G_AC=437;p3_1000G_AF=0.0872604;p3_1000G_AFR_AF=0.0439;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=16137;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.0249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228469870;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=187,3787;ESP6500_AA_GTC=6,175,1806;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=35;ESP6500_EA_AC=148,8144;ESP6500_EA_GTC=0,148,3998;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228282169;ESP6500_GS=101,101;ESP6500_GTC=6,323,5804;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.8434C>T,NM_001098623.1:c.8434C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(R2812W),NM_001098623.1:p.(R2812W);ESP6500_MAF=1.7849,4.7056,2.7311;ESP6500_PH=benign:0.058,benign:0.058;ESP6500_TAC=335,11931	GT:AD:DP:GQ:PL	0/1:17,18:35:99:452,0,475
chr1	228282202	rs3795786	A	T	764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795786;dbSNPBuildID=107;ANN=T|stop_gained|HIGH|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|36/116|c.9754A>T|p.Arg3252*|9828/26925|9754/26772|3252/8923||,T|stop_gained|HIGH|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|31/81|c.8467A>T|p.Arg2823*|8541/20432|8467/19863|2823/6620||,T|stop_gained|HIGH|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|31/105|c.8467A>T|p.Arg2823*|8541/24060|8467/23907|2823/7968||;LOF=(OBSCN|OBSCN|3|1.00);NMD=(OBSCN|OBSCN|3|1.00);p3_1000G_AA=A|||;p3_1000G_AC=384;p3_1000G_AF=0.0766773;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=15849;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228469903;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0573;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=42,3812;ESP6500_AA_GTC=1,40,1886;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=4.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=27;ESP6500_EA_AC=21,8219;ESP6500_EA_GTC=0,21,4099;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:stop-gained,NM_001098623.1:stop-gained;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228282202;ESP6500_GTC=1,61,5985;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.8467A>T,NM_001098623.1:c.8467A>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(R2823*),NM_001098623.1:p.(R2823*);ESP6500_MAF=0.2549,1.0898,0.5209;ESP6500_TAC=63,12031	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:228282202_A_T:793,57,0
chr1	228282203	rs3795787	G	T	764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795787;dbSNPBuildID=107;ANN=T|missense_variant&splice_region_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|36/116|c.9755G>T|p.Arg3252Ile|9829/26925|9755/26772|3252/8923||,T|missense_variant&splice_region_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|31/81|c.8468G>T|p.Arg2823Ile|8542/20432|8468/19863|2823/6620||,T|missense_variant&splice_region_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|31/105|c.8468G>T|p.Arg2823Ile|8542/24060|8468/23907|2823/7968||;p3_1000G_AA=G|||;p3_1000G_AC=384;p3_1000G_AF=0.0766773;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=15826;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228469904;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0573;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=44,3810;ESP6500_AA_GTC=1,42,1884;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-7.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=27;ESP6500_EA_AC=20,8218;ESP6500_EA_GTC=0,20,4099;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228282203;ESP6500_GS=97,97;ESP6500_GTC=1,62,5983;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.8468G>T,NM_001098623.1:c.8468G>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(R2823I),NM_001098623.1:p.(R2823I);ESP6500_MAF=0.2428,1.1417,0.5293;ESP6500_PH=possibly-damaging:0.59,possibly-damaging:0.59;ESP6500_TAC=64,12028	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:228282202_A_T:793,57,0
chr1	228288665	rs3795789	G	T	5435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795789;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|43/116|c.11403G>T|p.Glu3801Asp|11477/26925|11403/26772|3801/8923||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|38/81|c.10116G>T|p.Glu3372Asp|10190/20432|10116/19863|3372/6620||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|38/105|c.10116G>T|p.Glu3372Asp|10190/24060|10116/23907|3372/7968||;p3_1000G_AA=G|||;p3_1000G_AC=480;p3_1000G_AF=0.0958466;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=21025;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228476366;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=186,3926;ESP6500_AA_GTC=8,170,1878;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=3.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=75;ESP6500_EA_AC=125,8281;ESP6500_EA_GTC=0,125,4078;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228288665;ESP6500_GS=45,45;ESP6500_GTC=8,295,5956;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.10116G>T,NM_001098623.1:c.10116G>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(E3372D),NM_001098623.1:p.(E3372D);ESP6500_MAF=1.487,4.5233,2.4844;ESP6500_PH=possibly-damaging:0.65,possibly-damaging:0.65;ESP6500_TAC=311,12207	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,122:122:99:1|1:228288665_G_T:5464,373,0
chr1	228288666	rs3795790	A	T	5435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=0.759;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795790;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|43/116|c.11404A>T|p.Ser3802Cys|11478/26925|11404/26772|3802/8923||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|38/81|c.10117A>T|p.Ser3373Cys|10191/20432|10117/19863|3373/6620||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|38/105|c.10117A>T|p.Ser3373Cys|10191/24060|10117/23907|3373/7968||;p3_1000G_AA=A|||;p3_1000G_AC=480;p3_1000G_AF=0.0958466;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=20986;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228476367;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=182,3930;ESP6500_AA_GTC=8,166,1882;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-1.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=75;ESP6500_EA_AC=119,8285;ESP6500_EA_GTC=0,119,4083;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228288666;ESP6500_GS=112,112;ESP6500_GTC=8,285,5965;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.10117A>T,NM_001098623.1:c.10117A>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(S3373C),NM_001098623.1:p.(S3373C);ESP6500_MAF=1.416,4.4261,2.4049;ESP6500_PH=possibly-damaging:0.951,possibly-damaging:0.951;ESP6500_TAC=301,12215	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,124:124:99:1|1:228288665_G_T:5464,373,0
chr1	228288713	rs3795791	G	A	3321.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=0.905;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795791;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|43/116|c.11451G>A|p.Ala3817Ala|11525/26925|11451/26772|3817/8923||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|38/81|c.10164G>A|p.Ala3388Ala|10238/20432|10164/19863|3388/6620||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|38/105|c.10164G>A|p.Ala3388Ala|10238/24060|10164/23907|3388/7968||;p3_1000G_AA=G|||;p3_1000G_AC=470;p3_1000G_AF=0.0938498;p3_1000G_AFR_AF=0.0439;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=20753;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228476414;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=193,3981;ESP6500_AA_GTC=5,183,1899;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=94;ESP6500_EA_AC=156,8232;ESP6500_EA_GTC=0,156,4038;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228288713;ESP6500_GTC=5,339,5937;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.10164G>A,NM_001098623.1:c.10164G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(A3388),NM_001098623.1:p.(A3388);ESP6500_MAF=1.8598,4.6239,2.7782;ESP6500_TAC=349,12213	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3350,306,0
chr1	228292581	rs1150908	A	G	2649.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1150908;dbSNPBuildID=87;ANN=G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|45/116|c.11949A>G|p.Thr3983Thr|12023/26925|11949/26772|3983/8923||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|40/81|c.10662A>G|p.Thr3554Thr|10736/20432|10662/19863|3554/6620||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|40/105|c.10662A>G|p.Thr3554Thr|10736/24060|10662/23907|3554/7968||;p3_1000G_AA=G|||;p3_1000G_AC=3500;p3_1000G_AF=0.698882;p3_1000G_AFR_AF=0.8669;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=19841;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228480282;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3292,666;ESP6500_AA_GTC=1364,564,51;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=94;ESP6500_EA_AC=5863,2487;ESP6500_EA_GTC=2087,1689,399;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228292581;ESP6500_GTC=3451,2253,450;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.10662A>G,NM_001098623.1:c.10662A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(T3554),NM_001098623.1:p.(T3554);ESP6500_MAF=29.7844,16.8267,25.6175;ESP6500_TAC=9155,3153	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2678,246,0
chr1	228293263	rs10158357	A	G	923.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10158357;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|45/115|c.12155-90A>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|40/80|c.10868-90A>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|40/104|c.10868-90A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=1905;p3_1000G_AF=0.380391;p3_1000G_AFR_AF=0.3956;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=23514;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.3787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228480964;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:952,78,0
chr1	228294584	rs1150909	T	C	2214.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.3;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1150909;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|47/115|c.12682+169T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|42/80|c.11395+169T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|42/104|c.11395+169T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3499;p3_1000G_AF=0.698682;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=22721;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228482285;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,58:58:99:2243,174,0
chr1	228306681	rs1150911	T	C	3167.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=1.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1150911;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|55/115|c.14797+43T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|44/80|c.11926+43T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|44/104|c.11926+43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1610;p3_1000G_AF=0.321486;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=19048;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228494382;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,83:83:99:3196,250,0
chr1	228306995	rs4653939	G	A	2631.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.759;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4653939;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|56/116|c.14892G>A|p.Ala4964Ala|14966/26925|14892/26772|4964/8923||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|45/81|c.12021G>A|p.Ala4007Ala|12095/20432|12021/19863|4007/6620||,A|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|45/105|c.12021G>A|p.Ala4007Ala|12095/24060|12021/23907|4007/7968||;p3_1000G_AA=G|||;p3_1000G_AC=1545;p3_1000G_AF=0.308506;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=20661;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228494696;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1627,2743;ESP6500_AA_GTC=313,1001,871;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=45;ESP6500_EA_AC=1661,6879;ESP6500_EA_GTC=162,1337,2771;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228306995;ESP6500_GTC=475,2338,3642;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.12021G>A,NM_001098623.1:c.12021G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(A4007),NM_001098623.1:p.(A4007);ESP6500_MAF=19.4496,37.2311,25.4686;ESP6500_TAC=3288,9622	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2660,243,0
chr1	228307995	rs419173	T	C	554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs419173;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|57/115|c.15338-116T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|46/80|c.12467-116T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|46/104|c.12467-116T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3508;p3_1000G_AF=0.700479;p3_1000G_AFR_AF=0.8714;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=19481;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.673;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228495696;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:583,48,0
chr1	228309352	rs379620	A	G	2181.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=1.453;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs379620;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|59/115|c.15807+57A>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|48/80|c.12936+57A>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|48/104|c.12936+57A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3499;p3_1000G_AF=0.698682;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=20425;p3_1000G_EAS_AF=0.746;p3_1000G_EUR_AF=0.673;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228497053;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2210,171,0
chr1	228309585	rs56852844	C	A	1914.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56852844;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|60/115|c.15883+26C>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|49/80|c.13012+26C>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|49/104|c.13012+26C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=467;p3_1000G_AF=0.0932508;p3_1000G_AFR_AF=0.0439;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=20530;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228497286;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=184,3860;ESP6500_AA_GTC=6,172,1844;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=46;ESP6500_EA_AC=157,8189;ESP6500_EA_GTC=0,157,4016;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228309585;ESP6500_GTC=6,329,5860;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.13012+26C>A,NM_001098623.1:c.13012+26C>A;ESP6500_MAF=1.8811,4.55,2.7522;ESP6500_TAC=341,12049	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1943,174,0
chr1	228315976	rs1150912	A	G	1881.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=0.8;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1150912;dbSNPBuildID=87;ANN=G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|61/116|c.16013A>G|p.His5338Arg|16087/26925|16013/26772|5338/8923||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|50/81|c.13142A>G|p.His4381Arg|13216/20432|13142/19863|4381/6620||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|50/105|c.13142A>G|p.His4381Arg|13216/24060|13142/23907|4381/7968||;p3_1000G_AA=G|||;p3_1000G_AC=3510;p3_1000G_AF=0.700879;p3_1000G_AFR_AF=0.8722;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=13554;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228503677;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3514,678;ESP6500_AA_GTC=1474,566,56;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=30;ESP6500_EA_AC=5897,2461;ESP6500_EA_GTC=2117,1663,399;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228315976;ESP6500_GS=29,29;ESP6500_GTC=3591,2229,455;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.13142A>G,NM_001098623.1:c.13142A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(H4381R),NM_001098623.1:p.(H4381R);ESP6500_MAF=29.4448,16.1737,25.012;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9411,3139	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1910,171,0
chr1	228316771	rs1188732	T	C	1377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1188732;dbSNPBuildID=87;ANN=C|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|62/116|c.16219T>C|p.Cys5407Arg|16293/26925|16219/26772|5407/8923||,C|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|51/81|c.13348T>C|p.Cys4450Arg|13422/20432|13348/19863|4450/6620||,C|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|51/105|c.13348T>C|p.Cys4450Arg|13422/24060|13348/23907|4450/7968||;p3_1000G_AA=c|||;p3_1000G_AC=3502;p3_1000G_AF=0.699281;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=15124;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228504472;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA_AC=3469,705;ESP6500_AA_GTC=1434,601,52;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=19;ESP6500_EA_AC=5878,2510;ESP6500_EA_GTC=2087,1704,403;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228316771;ESP6500_GS=180,180;ESP6500_GTC=3521,2305,455;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.13348T>C,NM_001098623.1:c.13348T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(C4450R),NM_001098623.1:p.(C4450R);ESP6500_MAF=29.9237,16.8903,25.5931;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9347,3215	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1406,120,0
chr1	228317000	rs111792077	G	GCTCC	862.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.54;SOR=4.615;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs111792077;dbSNPBuildID=132;ANN=GCTCC|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|62/115|c.16432+18_16432+19insCCCT||||||INFO_REALIGN_3_PRIME,GCTCC|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|51/80|c.13561+18_13561+19insCCCT||||||INFO_REALIGN_3_PRIME,GCTCC|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|51/104|c.13561+18_13561+19insCCCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3501;p3_1000G_AF=0.699081;p3_1000G_AFR_AF=0.8654;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=14096;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228504701;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=INDEL;ESP6500_AA_AC=2276,714;ESP6500_AA_GTC=996,284,215;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=3;ESP6500_EA_AC=3936,2326;ESP6500_EA_GTC=1605,726,800;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228317000;ESP6500_GTC=2601,1010,1015;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.13561+16_13561+17insCTCC,NM_001098623.1:c.13561+16_13561+17insCTCC;ESP6500_MAF=37.1447,23.8796,32.8578;ESP6500_TAC=6212,3040	GT:AD:DP:GQ:PL	1/1:0,20:20:60:900,60,0
chr1	228317503	rs4653942	G	A	1405.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.29;SOR=1.298;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4653942;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|63/116|c.16472G>A|p.Arg5491His|16546/26925|16472/26772|5491/8923||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|52/81|c.13601G>A|p.Arg4534His|13675/20432|13601/19863|4534/6620||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|52/105|c.13601G>A|p.Arg4534His|13675/24060|13601/23907|4534/7968||;p3_1000G_AA=g|||;p3_1000G_AC=1579;p3_1000G_AF=0.315296;p3_1000G_AFR_AF=0.3941;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=15262;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228505204;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA_AC=1547,2561;ESP6500_AA_GTC=304,939,811;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=31;ESP6500_EA_AC=1632,6764;ESP6500_EA_GTC=158,1316,2724;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228317503;ESP6500_GS=29,29;ESP6500_GTC=462,2255,3535;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.13601G>A,NM_001098623.1:c.13601G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(R4534H),NM_001098623.1:p.(R4534H);ESP6500_MAF=19.4378,37.6582,25.4239;ESP6500_PH=probably-damaging:0.994,probably-damaging:0.994;ESP6500_TAC=3179,9325	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1434,144,0
chr1	228317967	rs1188729	C	G	1403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.18;SOR=1.236;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1188729;dbSNPBuildID=87;ANN=G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|64/116|c.16796C>G|p.Ser5599Cys|16870/26925|16796/26772|5599/8923||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|53/81|c.13925C>G|p.Ser4642Cys|13999/20432|13925/19863|4642/6620||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|53/105|c.13925C>G|p.Ser4642Cys|13999/24060|13925/23907|4642/7968||;p3_1000G_AA=g|||;p3_1000G_AC=3502;p3_1000G_AF=0.699281;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=18143;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228505668;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA_AC=3525,709;ESP6500_AA_GTC=1463,599,55;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=2.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=58;ESP6500_EA_AC=5924,2520;ESP6500_EA_GTC=2102,1720,400;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228317967;ESP6500_GS=112,112;ESP6500_GTC=3565,2319,455;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.13925C>G,NM_001098623.1:c.13925C>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(S4642C),NM_001098623.1:p.(S4642C);ESP6500_MAF=29.8437,16.7454,25.4693;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9449,3229	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1432,117,0
chr1	228317998	rs1188728	T	C	1323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=1.04;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1188728;dbSNPBuildID=87;ANN=C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|64/116|c.16827T>C|p.Gly5609Gly|16901/26925|16827/26772|5609/8923||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|53/81|c.13956T>C|p.Gly4652Gly|14030/20432|13956/19863|4652/6620||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|53/105|c.13956T>C|p.Gly4652Gly|14030/24060|13956/23907|4652/7968||;p3_1000G_AA=c|||;p3_1000G_AC=3535;p3_1000G_AF=0.705871;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=17728;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228505699;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA_AC=3658,612;ESP6500_AA_GTC=1564,530,41;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=76;ESP6500_EA_AC=5933,2533;ESP6500_EA_GTC=2108,1717,408;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228317998;ESP6500_GTC=3672,2247,449;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.13956T>C,NM_001098623.1:c.13956T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(G4652),NM_001098623.1:p.(G4652);ESP6500_MAF=29.9197,14.3326,24.6938;ESP6500_TAC=9591,3145	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1352,113,0
chr1	228318026	rs3795800	C	T	1510.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795800;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|64/116|c.16855C>T|p.Arg5619Cys|16929/26925|16855/26772|5619/8923||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|53/81|c.13984C>T|p.Arg4662Cys|14058/20432|13984/19863|4662/6620||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|53/105|c.13984C>T|p.Arg4662Cys|14058/24060|13984/23907|4662/7968||;p3_1000G_AA=c|||;p3_1000G_AC=432;p3_1000G_AF=0.086262;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=17760;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228505727;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA_AC=76,4206;ESP6500_AA_GTC=2,72,2067;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=0.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=93;ESP6500_EA_AC=158,8324;ESP6500_EA_GTC=0,158,4083;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228318026;ESP6500_GS=180,180;ESP6500_GTC=2,230,6150;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.13984C>T,NM_001098623.1:c.13984C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(R4662C),NM_001098623.1:p.(R4662C);ESP6500_MAF=1.8628,1.7749,1.8333;ESP6500_PH=benign:0.016,benign:0.016;ESP6500_TAC=234,12530	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1539,141,0
chr1	228321726	rs373610	A	G	2323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.68;SOR=0.849;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs373610;dbSNPBuildID=80;ANN=G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|66/116|c.17756A>G|p.Asp5919Gly|17830/26925|17756/26772|5919/8923||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|55/81|c.14885A>G|p.Asp4962Gly|14959/20432|14885/19863|4962/6620||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|55/105|c.14885A>G|p.Asp4962Gly|14959/24060|14885/23907|4962/7968||;p3_1000G_AA=G|||;p3_1000G_AC=3429;p3_1000G_AF=0.684704;p3_1000G_AFR_AF=0.8684;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=19311;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228509427;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3568,760;ESP6500_AA_GTC=1472,624,68;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=1.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=62;ESP6500_EA_AC=5945,2587;ESP6500_EA_GTC=2101,1743,422;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228321726;ESP6500_GS=94,94;ESP6500_GTC=3573,2367,490;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.14885A>G,NM_001098623.1:c.14885A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(D4962G),NM_001098623.1:p.(D4962G);ESP6500_MAF=30.3211,17.5601,26.0264;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9513,3347	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2352,201,0
chr1	228334328	rs57891072	TA	T	223.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57891072;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|70/115|c.18926-183delA||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|59/80|c.16055-183delA||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|59/104|c.16055-183delA||||||;p3_1000G_AA=-|A|-|insertion;p3_1000G_AC=2617;p3_1000G_AF=0.522564;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=17468;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.5139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228522029;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:261,21,0
chr1	228335711	rs12061733	G	A	651.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12061733;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|73/115|c.19277-80G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|62/80|c.16406-80G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|62/104|c.16406-80G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=635;p3_1000G_AF=0.126797;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=15137;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228523412;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:680,66,0
chr1	228335741	rs1684868	T	C	1141.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1684868;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|73/115|c.19277-50T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|62/80|c.16406-50T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|62/104|c.16406-50T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2396;p3_1000G_AF=0.478435;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=16479;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.5129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228523442;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1846,2100;ESP6500_AA_GTC=412,1022,539;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=62;ESP6500_EA_AC=4299,4015;ESP6500_EA_GTC=1122,2055,980;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228335741;ESP6500_GTC=1534,3077,1519;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.16406-50T>C,NM_001098623.1:c.16406-50T>C;ESP6500_MAF=48.292,46.7816,49.8777;ESP6500_TAC=6145,6115	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:228335741_T_C:1170,78,0
chr1	228335746	rs10799473	T	C	1180.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10799473;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|73/115|c.19277-45T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|62/80|c.16406-45T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|62/104|c.16406-45T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4074;p3_1000G_AF=0.813498;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=16748;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228523447;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3815,125;ESP6500_AA_GTC=1850,115,5;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=66;ESP6500_EA_AC=6853,1453;ESP6500_EA_GTC=2859,1135,159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228335746;ESP6500_GTC=4709,1250,164;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.16406-45T>C,NM_001098623.1:c.16406-45T>C;ESP6500_MAF=17.4934,3.1726,12.8858;ESP6500_TAC=10668,1578	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:228335741_T_C:1209,81,0
chr1	228335917	rs1757160	G	A	1004.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1757160;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|74/115|c.19337+66G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|63/80|c.16466+66G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|63/104|c.16466+66G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2375;p3_1000G_AF=0.474241;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=16592;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.5129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228523618;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=643,741;ESP6500_AA_GTC=155,333,204;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=66;ESP6500_EA_AC=1653,1529;ESP6500_EA_GTC=443,767,381;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228335917;ESP6500_GTC=598,1100,585;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.16466+66G>A,NM_001098623.1:c.16466+66G>A;ESP6500_MAF=48.0515,46.4595,49.7153;ESP6500_TAC=2296,2270	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1033,96,0
chr1	228338197	rs1188717	C	G	662.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1188717;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|78/115|c.19872+53C>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|67/80|c.17001+53C>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|67/104|c.17001+53C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2696;p3_1000G_AF=0.538339;p3_1000G_AFR_AF=0.6672;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=15231;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.5199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228525898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:691,57,0
chr1	228338964	rs505629	T	C	1097.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.29;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs505629;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|80/116|c.20067T>C|p.Ala6689Ala|20141/26925|20067/26772|6689/8923||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|69/81|c.17196T>C|p.Ala5732Ala|17270/20432|17196/19863|5732/6620||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|69/105|c.17196T>C|p.Ala5732Ala|17270/24060|17196/23907|5732/7968||;p3_1000G_AA=C|||;p3_1000G_AC=2476;p3_1000G_AF=0.494409;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=19542;p3_1000G_EAS_AF=0.5665;p3_1000G_EUR_AF=0.5209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228526665;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2109,1709;ESP6500_AA_GTC=638,833,438;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=14;ESP6500_EA_AC=4313,3431;ESP6500_EA_GTC=1295,1723,854;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:coding-synonymous,NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228338964;ESP6500_GTC=1933,2556,1292;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.17196T>C,NM_001098623.1:c.17196T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(A5732),NM_001098623.1:p.(A5732);ESP6500_MAF=44.3053,44.7617,44.456;ESP6500_TAC=6422,5140	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1126,102,0
chr1	228339041	rs780118525	CCACA	C	592.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.64;SOR=1.127;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|80/115|c.20129+47_20129+50delACAC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|69/80|c.17258+47_17258+50delACAC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|69/104|c.17258+47_17258+50delACAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,5:5:85:630,428,420
chr1	228339041	.	CCACA	CCA	592.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.64;SOR=1.127;DEL;HET;VARTYPE=DEL;ANN=CCA|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|80/115|c.20129+49_20129+50delAC||||||INFO_REALIGN_3_PRIME,CCA|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|69/80|c.17258+49_17258+50delAC||||||INFO_REALIGN_3_PRIME,CCA|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|69/104|c.17258+49_17258+50delAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,15:15:85:630,144,85
chr1	228340862	rs1188710	C	G	1269.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1188710;dbSNPBuildID=87;ANN=G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|83/116|c.20542C>G|p.Gln6848Glu|20616/26925|20542/26772|6848/8923||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|72/81|c.17671C>G|p.Gln5891Glu|17745/20432|17671/19863|5891/6620||,G|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|72/105|c.17671C>G|p.Gln5891Glu|17745/24060|17671/23907|5891/7968||;p3_1000G_AA=G|||;p3_1000G_AC=2698;p3_1000G_AF=0.538738;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=14531;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.5229;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228528563;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2409,1553;ESP6500_AA_GTC=745,919,317;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=14;ESP6500_EA_AC=4299,3963;ESP6500_EA_GTC=1174,1951,1006;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228340862;ESP6500_GS=29,29;ESP6500_GTC=1919,2870,1323;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.17671C>G,NM_001098623.1:c.17671C>G;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(Q5891E),NM_001098623.1:p.(Q5891E);ESP6500_MAF=47.9666,39.1974,45.1243;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=6708,5516	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1298,114,0
chr1	228341428	rs3795810	C	A	1218.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795810;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|84/115|c.20728-9C>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|73/80|c.17857-9C>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|73/104|c.17857-9C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=692;p3_1000G_AF=0.138179;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=14549;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.1034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228529129;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=260,3922;ESP6500_AA_GTC=5,250,1836;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=28;ESP6500_EA_AC=795,7621;ESP6500_EA_GTC=33,729,3446;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228341428;ESP6500_GTC=38,979,5282;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.17857-9C>A,NM_001098623.1:c.17857-9C>A;ESP6500_MAF=9.4463,6.2171,8.3743;ESP6500_TAC=1055,11543	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1247,111,0
chr1	228341728	rs141828109;rs71180792	A	AGACGGCTCAGCCAGCCTGTGGCATGG	501.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=4.977;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141828109,rs71180792;dbSNPBuildID=134,130;ANN=AGACGGCTCAGCCAGCCTGTGGCATGG|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|85/115|c.20905+121_20905+122insCAGCCAGCCTGTGGCATGGGACGGCT||||||INFO_REALIGN_3_PRIME,AGACGGCTCAGCCAGCCTGTGGCATGG|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|74/80|c.18034+121_18034+122insCAGCCAGCCTGTGGCATGGGACGGCT||||||INFO_REALIGN_3_PRIME,AGACGGCTCAGCCAGCCTGTGGCATGG|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|74/104|c.18034+121_18034+122insCAGCCAGCCTGTGGCATGGGACGGCT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,11:11:36:539,36,0
chr1	228350769	rs12031395	C	G	550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12031395;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|87/115|c.21188-72C>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|76/80|c.18317-72C>G||||||,G|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|76/104|c.18317-72C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=740;p3_1000G_AF=0.147764;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=19734;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228538470;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:579,48,0
chr1	228351267	rs3795811	C	T	654.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795811;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|88/115|c.21291-54C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|77/80|c.18420-54C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|77/104|c.18420-54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=699;p3_1000G_AF=0.139577;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=17414;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.1342;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228538968;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:683,66,0
chr1	228351599	rs3795812	G	A	275.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795812;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|89/115|c.21420+149G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|78/80|c.18549+149G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|78/104|c.18549+149G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3006;p3_1000G_AF=0.60024;p3_1000G_AFR_AF=0.4024;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=16122;p3_1000G_EAS_AF=0.7302;p3_1000G_EUR_AF=0.5765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228539300;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:304,27,0
chr1	228356099	rs3795814	C	T	906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=3.098;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795814;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|90/115|c.21532+3037C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|79/80|c.18662-52C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|79/104|c.18661+3037C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=862;p3_1000G_AF=0.172125;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=20933;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228543800;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=220,1164;ESP6500_AA_GTC=19,182,491;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=116;ESP6500_EA_AC=286,2896;ESP6500_EA_GTC=11,264,1316;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228356099;ESP6500_GTC=30,446,1807;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.18662-52C>T,NM_001098623.1:c.18661+3037C>T;ESP6500_MAF=8.9881,15.896,11.0819;ESP6500_TAC=506,4060	GT:AD:DP:GQ:PL	1/1:0,26:26:78:935,78,0
chr1	228359555	rs12027720	G	A	710.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.62;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12027720;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|90/115|c.21533-3021G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|80/80|c.18705-42G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|79/104|c.18662-3021G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=739;p3_1000G_AF=0.147564;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=17098;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228547256;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=419,3905;ESP6500_AA_GTC=17,385,1760;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=12;ESP6500_EA_AC=712,7800;ESP6500_EA_GTC=25,662,3569;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052843.2:intron,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228359555;ESP6500_GTC=42,1047,5329;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.18705-42G>A,NM_001098623.1:c.18662-3021G>A;ESP6500_MAF=8.3647,9.6901,8.8112;ESP6500_TAC=1131,11705	GT:AD:DP:GQ:PL	1/1:0,24:24:72:739,72,0
chr1	228360496	rs10158354	G	A	1421.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=1.464;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10158354;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding|81/81|c.19604G>A|p.Arg6535His|19678/20432|19604/19863|6535/6620||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|90/115|c.21533-2080G>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|79/104|c.18662-2080G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=740;p3_1000G_AF=0.147764;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=17345;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228548197;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=386,3526;ESP6500_AA_GTC=18,350,1588;ESP6500_CDS_SIZES=NM_052843.2:19863,NM_001098623.1:23907;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=18;ESP6500_EA_AC=710,7576;ESP6500_EA_GTC=29,652,3462;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052843.2:missense,NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228360496;ESP6500_GS=29,.;ESP6500_GTC=47,1002,5050;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052843.2:c.19604G>A,NM_001098623.1:c.18662-2080G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052843.2:p.(R6535H),.;ESP6500_MAF=8.5687,9.8671,8.9851;ESP6500_PH=benign:0.0,.;ESP6500_TAC=1096,11102	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1450,138,0
chr1	228362725	rs35155240	C	T	258.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35155240;dbSNPBuildID=126;ANN=T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|91/116|c.21682C>T|p.Pro7228Ser|21756/26925|21682/26772|7228/8923||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|80/105|c.18811C>T|p.Pro6271Ser|18885/24060|18811/23907|6271/7968||,T|downstream_gene_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding||c.*1970C>T|||||1475|;p3_1000G_AA=C|||;p3_1000G_AC=736;p3_1000G_AF=0.146965;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=14923;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.0984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228550426;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=358,3460;ESP6500_AA_GTC=17,324,1568;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=17;ESP6500_EA_AC=685,7533;ESP6500_EA_GTC=24,637,3448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228362725;ESP6500_GS=74;ESP6500_GTC=41,961,5016;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.18811C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001098623.1:p.(P6271S);ESP6500_MAF=8.3354,9.3766,8.6657;ESP6500_PH=benign:0.002;ESP6500_TAC=1043,10993	GT:AD:DP:GQ:PL	1/1:0,8:8:24:287,24,0
chr1	228364870	rs541959	T	C	2424.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=1.236;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs541959;dbSNPBuildID=83;ANN=C|downstream_gene_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding||c.*4115T>C|||||3620|,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|91/115|c.21713-111T>C||||||,C|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|80/104|c.18842-111T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1513;p3_1000G_AF=0.302117;p3_1000G_AFR_AF=0.6399;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=18404;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228552571;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2453,240,0
chr1	228365974	rs573128	C	T	1010.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.85;SOR=3.841;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs573128;dbSNPBuildID=83;ANN=T|downstream_gene_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_052843.3|protein_coding||c.*5219C>T|||||4724|,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|93/115|c.21935-100C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|82/104|c.19064-100C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1347;p3_1000G_AF=0.26897;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=19356;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228553675;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1039,87,0
chr1	228368702	rs35711644	C	T	1146.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35711644;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|99/115|c.22639-20C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|88/104|c.19768-20C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=629;p3_1000G_AF=0.125599;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=17831;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.0994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228556403;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1462;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=167,3835;ESP6500_AA_GTC=4,159,1838;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=145;ESP6500_EA_AC=714,7600;ESP6500_EA_GTC=30,654,3473;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228368702;ESP6500_GTC=34,813,5311;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.19768-20C>T;ESP6500_MAF=8.5879,4.1729,7.1533;ESP6500_TAC=881,11435	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1175,113,0
chr1	228369080	rs78101947	C	T	703.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.265;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.539;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=0.062;SOR=0.195;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78101947;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|100/115|c.22812-56C>T||||||,T|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|89/104|c.19941-56C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=169;p3_1000G_AF=0.033746;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=18528;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228556781;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=6,1378;ESP6500_AA_GTC=0,6,686;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=82;ESP6500_EA_AC=2,3180;ESP6500_EA_GTC=0,2,1589;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228369080;ESP6500_GTC=0,8,2275;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.19941-56C>T;ESP6500_MAF=0.0629,0.4335,0.1752;ESP6500_TAC=8,4558	GT:AD:DP:GQ:PL	0/1:11,26:37:99:732,0,306
chr1	228372293	rs500049	C	T	1622.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs500049;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|105/116|c.24386C>T|p.Ala8129Val|24460/26925|24386/26772|8129/8923||,T|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|94/105|c.21515C>T|p.Ala7172Val|21589/24060|21515/23907|7172/7968||;p3_1000G_AA=C|||;p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=17715;p3_1000G_EAS_AF=0.5625;p3_1000G_EUR_AF=0.504;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228559994;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2727,1409;ESP6500_AA_GTC=914,899,255;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=3.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=14;ESP6500_EA_AC=4210,4154;ESP6500_EA_GTC=1110,1990,1082;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228372293;ESP6500_GS=64;ESP6500_GTC=2024,2889,1337;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.21515C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001098623.1:p.(A7172V);ESP6500_MAF=49.6652,34.0667,44.504;ESP6500_PH=benign:0.004;ESP6500_TAC=6937,5563	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1651,159,0
chr1	228372333	rs36119328	C	T	688.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.033;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=1.012;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.216;SOR=0.52;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36119328;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|105/116|c.24426C>T|p.Tyr8142Tyr|24500/26925|24426/26772|8142/8923||,T|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|94/105|c.21555C>T|p.Tyr7185Tyr|21629/24060|21555/23907|7185/7968||;p3_1000G_AA=C|||;p3_1000G_AC=69;p3_1000G_AF=0.013778;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17422;p3_1000G_EAS_AF=0.0575;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228560034;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2,4042;ESP6500_AA_GTC=0,2,2020;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=12;ESP6500_EA_AC=4,8322;ESP6500_EA_GTC=0,4,4159;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228372333;ESP6500_GTC=0,6,6179;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.21555C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001098623.1:p.(Y7185);ESP6500_MAF=0.048,0.0495,0.0485;ESP6500_TAC=6,12364	GT:AD:DP:GQ:PL	0/1:29,28:57:99:717,0,748
chr1	228372438	rs498382	A	G	1567.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs498382;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|105/116|c.24531A>G|p.Ser8177Ser|24605/26925|24531/26772|8177/8923||,G|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|94/105|c.21660A>G|p.Ser7220Ser|21734/24060|21660/23907|7220/7968||;p3_1000G_AA=a|||;p3_1000G_AC=4879;p3_1000G_AF=0.974241;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=15498;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228560139;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4046,68;ESP6500_AA_GTC=1989,68,0;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=0.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=17;ESP6500_EA_AC=7733,619;ESP6500_EA_GTC=3581,571,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228372438;ESP6500_GTC=5570,639,24;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.21660A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001098623.1:p.(S7220);ESP6500_MAF=7.4114,1.6529,5.511;ESP6500_TAC=11779,687	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1596,129,0
chr1	228372999	rs512253	T	C	975.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs512253;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|105/116|c.25092T>C|p.Asp8364Asp|25166/26925|25092/26772|8364/8923||,C|synonymous_variant|LOW|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|94/105|c.22221T>C|p.Asp7407Asp|22295/24060|22221/23907|7407/7968||;p3_1000G_AA=C|||;p3_1000G_AC=3796;p3_1000G_AF=0.757987;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=15865;p3_1000G_EAS_AF=0.752;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228560700;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3642,576;ESP6500_AA_GTC=1602,438,69;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=-7.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=20;ESP6500_EA_AC=4624,3806;ESP6500_EA_GTC=1316,1992,907;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001098623.1:coding-synonymous;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228372999;ESP6500_GTC=2918,2430,976;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.22221T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001098623.1:p.(D7407);ESP6500_MAF=45.1483,13.6558,34.6458;ESP6500_TAC=8266,4382	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1004,96,0
chr1	228377183	rs56174824	G	A	2755.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=0.919;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56174824;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|112/116|c.26042G>A|p.Arg8681His|26116/26925|26042/26772|8681/8923||,A|missense_variant|MODERATE|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|101/105|c.23171G>A|p.Arg7724His|23245/24060|23171/23907|7724/7968||;p3_1000G_AA=G|||;p3_1000G_AC=705;p3_1000G_AF=0.140775;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=16390;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.0974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228564884;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=400,3686;ESP6500_AA_GTC=14,372,1657;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=-2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=14;ESP6500_EA_AC=712,7690;ESP6500_EA_GTC=31,650,3520;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001098623.1:missense;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228377183;ESP6500_GS=29;ESP6500_GTC=45,1022,5177;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.23171G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001098623.1:p.(R7724H);ESP6500_MAF=8.4742,9.7895,8.9045;ESP6500_PH=benign:0.0;ESP6500_TAC=1112,11376	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2784,288,0
chr1	228377744	rs3738687	C	A	956.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=24.53;ReadPosRankSum=-0.748;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738687;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001271223.2|protein_coding|113/115|c.26374+32C>A||||||,A|intron_variant|MODIFIER|OBSCN|OBSCN|transcript|NM_001098623.2|protein_coding|102/104|c.23503+32C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=622;p3_1000G_AF=0.124201;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=17094;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.0974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228565445;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=228,3986;ESP6500_AA_GTC=6,216,1885;ESP6500_CDS_SIZES=NM_001098623.1:23907;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=35;ESP6500_EA_AC=719,7719;ESP6500_EA_GTC=31,657,3531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001098623.1:intron;ESP6500_GL=OBSCN;ESP6500_GRCh38_POSITION=1:228377744;ESP6500_GTC=37,873,5416;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001098623.1:c.23503+32C>A;ESP6500_MAF=8.521,5.4105,7.485;ESP6500_TAC=947,11705	GT:AD:DP:GQ:PL	1/1:1,38:39:99:985,102,0
chr1	228400979	rs11555960	A	C	2228.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.82;SOR=2.231;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11555960;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|TRIM11|TRIM11|transcript|NM_145214.2|protein_coding|3/6|c.720T>G|p.Ala240Ala|975/2691|720/1407|240/468||,C|upstream_gene_variant|MODIFIER|MIR6742|MIR6742|transcript|NR_106800.1|pseudogene||n.-3870T>G|||||3870|;p3_1000G_AA=t|||;p3_1000G_AC=1088;p3_1000G_AF=0.217252;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=14129;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228588680;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA_AC=812,3244;ESP6500_AA_GTC=65,682,1281;ESP6500_CDS_SIZES=NM_145214.2:1407;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=7;ESP6500_EA_AC=753,7355;ESP6500_EA_GTC=33,687,3334;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145214.2:coding-synonymous;ESP6500_GL=TRIM11;ESP6500_GRCh38_POSITION=1:228400979;ESP6500_GTC=98,1369,4615;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_145214.2:c.720T>G;ESP6500_HGVS_PROTEIN_VAR=NM_145214.2:p.(A240);ESP6500_MAF=9.2871,20.0197,12.8658;ESP6500_TAC=1565,10599	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2257,192,0
chr1	228413937	rs472594	T	C	1384.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.364;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs472594;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|TRIM17|TRIM17|transcript|NM_001024940.2|protein_coding|2/6|c.430-45A>G||||||,C|intron_variant|MODIFIER|TRIM17|TRIM17|transcript|NM_016102.3|protein_coding|2/6|c.430-45A>G||||||,C|intron_variant|MODIFIER|TRIM17|TRIM17|transcript|NM_001134855.1|protein_coding|2/5|c.430-45A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2227;p3_1000G_AF=0.444688;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=19732;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228601638;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3252,1154;ESP6500_AA_AGE=371.0+/-319.8;ESP6500_AA_GTC=1218,816,169;ESP6500_CDS_SIZES=NM_016102.3:1434,NM_001134855.1:1032,NM_001024940.2:1434;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=51;ESP6500_EA_AC=1907,6693;ESP6500_EA_AGE=712.8+/-405.9;ESP6500_EA_GTC=221,1465,2614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016102.3:intron,NM_001134855.1:intron,NM_001024940.2:intron;ESP6500_GL=TRIM17;ESP6500_GRCh38_POSITION=1:228413937;ESP6500_GTC=1439,2281,2783;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016102.3:c.430-45A>G,NM_001134855.1:c.430-45A>G,NM_001024940.2:c.430-45A>G;ESP6500_MAF=22.1744,26.1916,39.6663;ESP6500_TAC=5159,7847	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1413,132,0
chr1	228414959	rs503203	G	C	1380.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=0.883;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs503203;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|TRIM17|TRIM17|transcript|NM_001024940.2|protein_coding|2/7|c.114C>G|p.Ala38Ala|463/2049|114/1434|38/477||,C|synonymous_variant|LOW|TRIM17|TRIM17|transcript|NM_016102.3|protein_coding|2/7|c.114C>G|p.Ala38Ala|499/2085|114/1434|38/477||,C|synonymous_variant|LOW|TRIM17|TRIM17|transcript|NM_001134855.1|protein_coding|2/6|c.114C>G|p.Ala38Ala|615/1782|114/1032|38/343||;p3_1000G_AA=C|||;p3_1000G_AC=1482;p3_1000G_AF=0.295927;p3_1000G_AFR_AF=0.6513;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=18452;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228602660;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2358,2048;ESP6500_AA_AGE=556.5+/-379.5;ESP6500_AA_GTC=615,1128,460;ESP6500_CDS_SIZES=NM_016102.3:1434,NM_001134855.1:1032,NM_001024940.2:1434;ESP6500_CG=1.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=33;ESP6500_EA_AC=824,7776;ESP6500_EA_AGE=767.5+/-407.6;ESP6500_EA_GTC=41,742,3517;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016102.3:coding-synonymous,NM_001134855.1:coding-synonymous,NM_001024940.2:coding-synonymous;ESP6500_GL=TRIM17;ESP6500_GRCh38_POSITION=1:228414959;ESP6500_GTC=656,1870,3977;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_016102.3:c.114C>G,NM_001134855.1:c.114C>G,NM_001024940.2:c.114C>G;ESP6500_HGVS_PROTEIN_VAR=NM_016102.3:p.(A38),NM_001134855.1:p.(A38),NM_001024940.2:p.(A38);ESP6500_MAF=9.5814,46.4821,24.4656;ESP6500_TAC=3182,9824	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1409,131,0
chr1	228458606	rs56781799	A	C	844.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.31;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=16.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.504;SOR=3.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56781799;dbSNPBuildID=129;ANN=C|upstream_gene_variant|MODIFIER|HIST3H2A|HIST3H2A|transcript|NM_033445.2|protein_coding||c.-789T>G|||||747|,C|upstream_gene_variant|MODIFIER|MIR4666A|MIR4666A|transcript|NR_039812.1|pseudogene||n.-3468A>C|||||3468|,C|downstream_gene_variant|MODIFIER|HIST3H2BB|HIST3H2BB|transcript|NM_175055.2|protein_coding||c.*96A>C|||||48|,C|intergenic_region|MODIFIER|HIST3H2BB-MIR4666A|HIST3H2BB-MIR4666A|intergenic_region|HIST3H2BB-MIR4666A|||n.228458606A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=172;p3_1000G_AF=0.034345;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16741;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228646307;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,25:52:99:873,0,702
chr1	228489123	rs12034519	C	T	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.364;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=1.2;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12034519;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|RNF187|RNF187|transcript|NM_001010858.2|protein_coding|2/3|c.483+71C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=450;p3_1000G_AF=0.0898562;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=15813;p3_1000G_EAS_AF=0.2014;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228676824;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,8:22:99:215,0,423
chr1	228511776	rs6665115	T	C	1970.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=144;ExcessHet=3.0103;FS=6.244;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-1.973;SOR=1.182;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6665115;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|BTNL10|BTNL10|transcript|NM_001287262.1|protein_coding|2/3|c.182A>G|p.His61Arg|335/780|182/627|61/208||;p3_1000G_AA=T|||;p3_1000G_AC=2516;p3_1000G_AF=0.502396;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=23442;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.5905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228699477;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:68,76:144:99:1999,0,1660
chr1	228735726	.	C	A	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=A|5_prime_UTR_variant|MODIFIER|RHOU|RHOU|transcript|NM_021205.5|protein_coding|1/3|c.-17C>A|||||17|,A|intron_variant|MODIFIER|RHOU|RHOU|transcript|NR_037962.1|pseudogene|1/2|n.387-1947C>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	229249660	rs9435867	G	C	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.588;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=12.217;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.659;SOR=0.035;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9435867;dbSNPBuildID=119;ANN=C|intergenic_region|MODIFIER|MIR4454-RAB4A|MIR4454-RAB4A|intergenic_region|MIR4454-RAB4A|||n.229249660G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=578;p3_1000G_AF=0.115415;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=18316;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.1481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229385407;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,12:31:99:311,0,713
chr1	229286446	rs237764	T	C	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.584;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs237764;dbSNPBuildID=79;ANN=C|sequence_feature|LOW|RAB4A|RAB4A|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_004578.3|protein_coding|1/7|c.32-40T>C||||||,C|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NM_004578.3|protein_coding|1/7|c.32-40T>C||||||,C|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NM_001271998.1|protein_coding|1/5|c.-50-9402T>C||||||,C|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NR_073545.1|pseudogene|1/7|n.310-40T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3041;p3_1000G_AF=0.607228;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=17815;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.673;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229422193;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3171,1209;ESP6500_AA_GTC=1154,863,173;ESP6500_CDS_SIZES=NM_004578.2:657;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=64;ESP6500_EA_AC=5562,3016;ESP6500_EA_GTC=1814,1934,541;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004578.2:intron;ESP6500_GL=RAB4A;ESP6500_GRCh38_POSITION=1:229286446;ESP6500_GTC=2968,2797,714;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004578.2:c.32-40T>C;ESP6500_MAF=35.1597,27.6027,32.6053;ESP6500_TAC=8733,4225	GT:AD:DP:GQ:PL	0/1:12,10:22:99:265,0,286
chr1	229302783	rs563708134	C	CT	172.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.024;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.066;SOR=0.097;INS;HET;VARTYPE=INS;dbSNPBuildID=142;ANN=CT|upstream_gene_variant|MODIFIER|SPHAR|SPHAR|transcript|NM_006542.3|protein_coding||c.-2352_-2351insT|||||1598|,CT|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NM_004578.3|protein_coding|6/7|c.542-66dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NM_001271998.1|protein_coding|4/5|c.227-66dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NR_073545.1|pseudogene|6/7|n.782-66dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,9:13:61:210,0,61
chr1	229303081	rs237787	G	A	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.09;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.78;ReadPosRankSum=1.26;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs237787;dbSNPBuildID=79;ANN=A|upstream_gene_variant|MODIFIER|SPHAR|SPHAR|transcript|NM_006542.3|protein_coding||c.-2054G>A|||||1301|,A|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NM_004578.3|protein_coding|7/7|c.*12+92G>A||||||,A|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NM_001271998.1|protein_coding|5/5|c.*12+92G>A||||||,A|intron_variant|MODIFIER|RAB4A|RAB4A|transcript|NR_073545.1|pseudogene|7/7|n.909+92G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3030;p3_1000G_AF=0.605032;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=15462;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.671;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229438828;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:206,0,101
chr1	229342020	rs12756927	A	G	805.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.067;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.625;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12756927;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|CCSAP|CCSAP|transcript|NM_145257.4|protein_coding|2/3|c.367+79T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=937;p3_1000G_AF=0.187101;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=12609;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229477767;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,32:54:99:834,0,545
chr1	229432484	rs527621	T	G	386.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs527621;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|ACTA1|ACTA1|transcript|NM_001100.3|protein_coding|3/6|c.455-53A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=3486;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229568231;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:415,30,0
chr1	229527317	rs113712941;rs140542677;rs55677147	GAGGAA	G	997.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.07;SOR=0.776;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs140542677,rs113712941,rs55677147;dbSNPBuildID=132,134,129;ANN=G|intron_variant|MODIFIER|ABCB10|ABCB10|transcript|NM_012089.2|protein_coding|8/12|c.1646-14_1646-10delTTCCT||||||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18904;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229663064;p3_1000G_GRCH37_REF=GAGGAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4210,12;ESP6500_AA_GTC=2105,0,6;ESP6500_CDS_SIZES=NM_012089.2:2217;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=89;ESP6500_EA_AC=8021,49;ESP6500_EA_GTC=4010,1,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012089.2:intron;ESP6500_GL=ABCB10;ESP6500_GRCh38_POSITION=1:229527317;ESP6500_GTC=6115,1,30;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_012089.2:c.1646-14_1646-10del5;ESP6500_MAF=0.6072,0.2842,0.4963;ESP6500_TAC=12231,61	GT:AD:DP:GQ:PL	1/1:0,23:23:69:1035,69,0
chr1	229602423	rs3753886	T	G	2441.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.252;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3753886;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|TAF5L|TAF5L|transcript|NM_014409.3|protein_coding|4/5|c.744A>C|p.Arg248Arg|910/3115|744/1770|248/589||,G|synonymous_variant|LOW|TAF5L|TAF5L|transcript|NM_001025247.1|protein_coding|4/4|c.744A>C|p.Arg248Arg|910/4139|744/978|248/325||;p3_1000G_AA=G|||;p3_1000G_AC=2873;p3_1000G_AF=0.573682;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=19925;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229738170;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2246,2160;ESP6500_AA_AGE=581.4+/-385.4;ESP6500_AA_GTC=571,1104,528;ESP6500_CDS_SIZES=NM_014409.3:1770,NM_001025247.1:978;ESP6500_CG=-11.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=90;ESP6500_EA_AC=4407,4193;ESP6500_EA_AGE=569.8+/-389.2;ESP6500_EA_GTC=1100,2207,993;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014409.3:coding-synonymous,NM_001025247.1:coding-synonymous;ESP6500_GL=TAF5L;ESP6500_GRCh38_POSITION=1:229602423;ESP6500_GTC=1671,3311,1521;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014409.3:c.744A>C,NM_001025247.1:c.744A>C;ESP6500_HGVS_PROTEIN_VAR=NM_014409.3:p.(R248),NM_001025247.1:p.(R248);ESP6500_MAF=48.7558,49.0241,48.8467;ESP6500_TAC=6653,6353	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2470,234,0
chr1	229602489	rs4925500	G	A	2655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=0.719;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925500;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|TAF5L|TAF5L|transcript|NM_014409.3|protein_coding|4/5|c.678C>T|p.Pro226Pro|844/3115|678/1770|226/589||,A|synonymous_variant|LOW|TAF5L|TAF5L|transcript|NM_001025247.1|protein_coding|4/4|c.678C>T|p.Pro226Pro|844/4139|678/978|226/325||;p3_1000G_AA=A|||;p3_1000G_AC=4217;p3_1000G_AF=0.842053;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=18807;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.7614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229738236;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4035,371;ESP6500_AA_AGE=188.1+/-214.6;ESP6500_AA_GTC=1847,341,15;ESP6500_CDS_SIZES=NM_014409.3:1770,NM_001025247.1:978;ESP6500_CG=-11.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=77;ESP6500_EA_AC=6467,2133;ESP6500_EA_AGE=366.0+/-334.1;ESP6500_EA_GTC=2444,1579,277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014409.3:coding-synonymous,NM_001025247.1:coding-synonymous;ESP6500_GL=TAF5L;ESP6500_GRCh38_POSITION=1:229602489;ESP6500_GTC=4291,1920,292;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014409.3:c.678C>T,NM_001025247.1:c.678C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014409.3:p.(P226),NM_001025247.1:p.(P226);ESP6500_MAF=24.8023,8.4203,19.2527;ESP6500_TAC=10502,2504	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2684,232,0
chr1	229610272	rs2273573	C	T	289.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273573;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TAF5L|TAF5L|transcript|NM_014409.3|protein_coding|2/4|c.143-62G>A||||||,T|intron_variant|MODIFIER|TAF5L|TAF5L|transcript|NM_001025247.1|protein_coding|2/3|c.143-62G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2875;p3_1000G_AF=0.574081;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=20753;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229746019;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:318,30,0
chr1	229632550	rs1473719	C	T	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.9;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1473719;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|URB2|URB2|transcript|NM_001314021.1|protein_coding|3/9|c.303+105C>T||||||,T|intron_variant|MODIFIER|URB2|URB2|transcript|NM_014777.3|protein_coding|3/9|c.303+105C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2864;p3_1000G_AF=0.571885;p3_1000G_AFR_AF=0.4818;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=18062;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229768297;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:465,36,0
chr1	229636946	rs3811473	T	G	1664.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=1.094;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811473;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|URB2|URB2|transcript|NM_001314021.1|protein_coding|4/10|c.2333T>G|p.Val778Gly|2518/5663|2333/4575|778/1524||,G|missense_variant|MODERATE|URB2|URB2|transcript|NM_014777.3|protein_coding|4/10|c.2333T>G|p.Val778Gly|2487/5632|2333/4575|778/1524||;p3_1000G_AA=G|||;p3_1000G_AC=2864;p3_1000G_AF=0.571885;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=21764;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.5189;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229772693;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2223,2183;ESP6500_AA_AGE=583.2+/-385.8;ESP6500_AA_GTC=559,1105,539;ESP6500_CDS_SIZES=NM_014777.2:4575;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=80;ESP6500_EA_AC=4410,4190;ESP6500_EA_AGE=569.7+/-389.2;ESP6500_EA_GTC=1104,2202,994;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014777.2:missense;ESP6500_GL=URB2;ESP6500_GRCh38_POSITION=1:229636946;ESP6500_GS=109;ESP6500_GTC=1663,3307,1533;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014777.2:c.2333T>G;ESP6500_HGVS_PROTEIN_VAR=NM_014777.2:p.(V778G);ESP6500_MAF=48.7209,49.5461,49.0005;ESP6500_PH=benign:0.0;ESP6500_TAC=6633,6373	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1693,152,0
chr1	229637185	rs3811474	A	G	2499.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=0.752;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811474;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|URB2|URB2|transcript|NM_001314021.1|protein_coding|4/10|c.2572A>G|p.Lys858Glu|2757/5663|2572/4575|858/1524||,G|missense_variant|MODERATE|URB2|URB2|transcript|NM_014777.3|protein_coding|4/10|c.2572A>G|p.Lys858Glu|2726/5632|2572/4575|858/1524||,G|sequence_feature|MODERATE|URB2|URB2|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_014777.3|protein_coding|4/10|c.2572A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=998;p3_1000G_AF=0.199281;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=20179;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.0636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229772932;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=844,3562;ESP6500_AA_AGE=332.5+/-302.5;ESP6500_AA_GTC=85,674,1444;ESP6500_CDS_SIZES=NM_014777.2:4575;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=89;ESP6500_EA_AC=553,8047;ESP6500_EA_AGE=150.6+/-205.5;ESP6500_EA_GTC=14,525,3761;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014777.2:missense;ESP6500_GL=URB2;ESP6500_GRCh38_POSITION=1:229637185;ESP6500_GS=56;ESP6500_GTC=99,1199,5205;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014777.2:c.2572A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014777.2:p.(K858E);ESP6500_MAF=6.4302,19.1557,10.7412;ESP6500_PH=benign:0.055;ESP6500_TAC=1397,11609	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2528,204,0
chr1	229637694	rs3811475	C	T	1785.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811475;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|URB2|URB2|transcript|NM_001314021.1|protein_coding|4/10|c.3081C>T|p.Thr1027Thr|3266/5663|3081/4575|1027/1524||,T|synonymous_variant|LOW|URB2|URB2|transcript|NM_014777.3|protein_coding|4/10|c.3081C>T|p.Thr1027Thr|3235/5632|3081/4575|1027/1524||;p3_1000G_AA=C|||;p3_1000G_AC=1027;p3_1000G_AF=0.205072;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=20811;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.0626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229773441;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=932,3474;ESP6500_AA_AGE=354.1+/-312.5;ESP6500_AA_GTC=101,730,1372;ESP6500_CDS_SIZES=NM_014777.2:4575;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=555,8045;ESP6500_EA_AGE=150.6+/-205.5;ESP6500_EA_GTC=14,527,3759;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014777.2:coding-synonymous;ESP6500_GL=URB2;ESP6500_GRCh38_POSITION=1:229637694;ESP6500_GTC=115,1257,5131;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014777.2:c.3081C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014777.2:p.(T1027);ESP6500_MAF=6.4535,21.153,11.4332;ESP6500_TAC=1487,11519	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1814,165,0
chr1	229645785	rs881694	T	G	1262.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.75;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs881694;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|URB2|URB2|transcript|NM_001314021.1|protein_coding|5/9|c.3796-74T>G||||||,G|intron_variant|MODIFIER|URB2|URB2|transcript|NM_014777.3|protein_coding|5/9|c.3796-74T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2860;p3_1000G_AF=0.571086;p3_1000G_AFR_AF=0.4788;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=20467;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229781532;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1291,99,0
chr1	229645997	rs2274994	T	C	1972.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.7;SOR=1.651;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274994;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|URB2|URB2|transcript|NM_001314021.1|protein_coding|6/9|c.3906+28T>C||||||,C|intron_variant|MODIFIER|URB2|URB2|transcript|NM_014777.3|protein_coding|6/9|c.3906+28T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2860;p3_1000G_AF=0.571086;p3_1000G_AFR_AF=0.4788;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=18407;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229781744;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2201,2205;ESP6500_AA_AGE=587.5+/-386.7;ESP6500_AA_GTC=549,1103,551;ESP6500_CDS_SIZES=NM_014777.2:4575;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=112;ESP6500_EA_AC=4405,4195;ESP6500_EA_AGE=569.8+/-389.3;ESP6500_EA_GTC=1101,2203,996;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014777.2:intron;ESP6500_GL=URB2;ESP6500_GRCh38_POSITION=1:229645997;ESP6500_GTC=1650,3306,1547;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014777.2:c.3906+28T>C;ESP6500_MAF=48.7791,49.9546,49.2081;ESP6500_TAC=6606,6400	GT:AD:DP:GQ:PL	1/1:0,56:56:99:2001,168,0
chr1	229647489	rs6587349	T	C	735.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587349;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|URB2|URB2|transcript|NM_001314021.1|protein_coding|6/9|c.3907-21T>C||||||,C|intron_variant|MODIFIER|URB2|URB2|transcript|NM_014777.3|protein_coding|6/9|c.3907-21T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4825;p3_1000G_AF=0.963458;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=20120;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8807;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229783236;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4295,111;ESP6500_AA_AGE=80.4+/-118.8;ESP6500_AA_GTC=2092,111,0;ESP6500_CDS_SIZES=NM_014777.2:4575;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=39;ESP6500_EA_AC=7523,1077;ESP6500_EA_AGE=219.4+/-257.5;ESP6500_EA_GTC=3305,913,82;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014777.2:intron;ESP6500_GL=URB2;ESP6500_GRCh38_POSITION=1:229647489;ESP6500_GTC=5397,1024,82;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014777.2:c.3907-21T>C;ESP6500_MAF=12.5233,2.5193,9.1342;ESP6500_TAC=11818,1188	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:229647489_T_C:764,54,0
chr1	229647493	rs2274995	T	C	735.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2274995;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|URB2|URB2|transcript|NM_001314021.1|protein_coding|6/9|c.3907-17T>C||||||,C|intron_variant|MODIFIER|URB2|URB2|transcript|NM_014777.3|protein_coding|6/9|c.3907-17T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2812;p3_1000G_AF=0.561502;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=20125;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229783240;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2075,2331;ESP6500_AA_AGE=586.8+/-386.5;ESP6500_AA_GTC=491,1093,619;ESP6500_CDS_SIZES=NM_014777.2:4575;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=42;ESP6500_EA_AC=4407,4193;ESP6500_EA_AGE=559.4+/-387.4;ESP6500_EA_GTC=1104,2199,997;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014777.2:intron;ESP6500_GL=URB2;ESP6500_GRCh38_POSITION=1:229647493;ESP6500_GTC=1595,3292,1616;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014777.2:c.3907-17T>C;ESP6500_MAF=48.7558,47.0949,49.8385;ESP6500_TAC=6482,6524	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:54:1|1:229647489_T_C:764,54,0
chr1	229654301	rs7521953	A	G	2322.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=1.079;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7521953;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|URB2|URB2|transcript|NM_001314021.1|protein_coding|9/10|c.4290A>G|p.Arg1430Arg|4475/5663|4290/4575|1430/1524||,G|synonymous_variant|LOW|URB2|URB2|transcript|NM_014777.3|protein_coding|9/10|c.4290A>G|p.Arg1430Arg|4444/5632|4290/4575|1430/1524||;p3_1000G_AA=G|||;p3_1000G_AC=3025;p3_1000G_AF=0.604034;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=19875;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.5457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229790048;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2312,2094;ESP6500_AA_AGE=572.4+/-383.3;ESP6500_AA_GTC=612,1088,503;ESP6500_CDS_SIZES=NM_014777.2:4575;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=220;ESP6500_EA_AC=4439,4161;ESP6500_EA_AGE=568.1+/-388.9;ESP6500_EA_GTC=1134,2171,995;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014777.2:coding-synonymous;ESP6500_GL=URB2;ESP6500_GRCh38_POSITION=1:229654301;ESP6500_GTC=1746,3259,1498;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014777.2:c.4290A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014777.2:p.(R1430);ESP6500_MAF=48.3837,47.5261,48.0932;ESP6500_TAC=6751,6255	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2351,230,0
chr1	229659323	rs1048306	T	G	1809.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=1.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1048306;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|URB2|URB2|transcript|NM_001314021.1|protein_coding|10/10|c.*26T>G|||||26|,G|3_prime_UTR_variant|MODIFIER|URB2|URB2|transcript|NM_014777.3|protein_coding|10/10|c.*26T>G|||||26|;p3_1000G_AA=G|||;p3_1000G_AC=3015;p3_1000G_AF=0.602037;p3_1000G_AFR_AF=0.5083;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=18873;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=229795070;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2361,2045;ESP6500_AA_AGE=546.6+/-377.1;ESP6500_AA_GTC=632,1097,474;ESP6500_CDS_SIZES=NM_014777.2:4575;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=53;ESP6500_EA_AC=4437,4163;ESP6500_EA_AGE=545.4+/-384.8;ESP6500_EA_GTC=1138,2161,1001;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014777.2:utr-3;ESP6500_GL=URB2;ESP6500_GRCh38_POSITION=1:229659323;ESP6500_GTC=1770,3258,1475;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014777.2:c.*26T>G;ESP6500_MAF=48.407,46.414,47.7318;ESP6500_TAC=6798,6208	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1838,177,0
chr1	230279279	rs6698963	A	G	667.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.29;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=6.344;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.171;SOR=1.697;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6698963;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|GALNT2|GALNT2|transcript|NM_004481.4|protein_coding|15/15|c.1561-24A>G||||||,G|intron_variant|MODIFIER|GALNT2|GALNT2|transcript|NM_001291866.1|protein_coding|15/15|c.1447-24A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3620;p3_1000G_AF=0.722843;p3_1000G_AFR_AF=0.8911;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=19481;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230415025;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3672,732;ESP6500_AA_AGE=752.1+/-412.3;ESP6500_AA_GTC=1537,598,67;ESP6500_CDS_SIZES=NM_004481.3:1716;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=4043,4557;ESP6500_EA_AGE=555.7+/-386.7;ESP6500_EA_GTC=962,2119,1219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004481.3:intron;ESP6500_GL=GALNT2;ESP6500_GRCh38_POSITION=1:230279279;ESP6500_GTC=2499,2717,1286;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004481.3:c.1561-24A>G;ESP6500_MAF=47.0116,16.6213,40.6721;ESP6500_TAC=7715,5289	GT:AD:DP:GQ:PL	0/1:28,23:51:99:696,0,711
chr1	230323687	rs35048134;rs398050157;rs398074723	GC	G	306.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.344;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.379;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-1.468;SOR=2.419;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35048134;dbSNPBuildID=126,138,138;ANN=G|intron_variant|MODIFIER|PGBD5|PGBD5|transcript|NM_001258311.1|protein_coding|6/6|c.1380-68delG||||||	GT:AD:DP:GQ:PL	0/1:7,13:20:99:344,0,157
chr1	230325333	rs2306813	G	A	581.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.574;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0.939;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=0.23;SOR=0.794;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306813;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|PGBD5|PGBD5|transcript|NM_001258311.1|protein_coding|6/7|c.1356C>T|p.Cys452Cys|1356/3354|1356/1575|452/524||;p3_1000G_AA=G|||;p3_1000G_AC=1179;p3_1000G_AF=0.235423;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=22434;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.1551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230461079;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=705,3701;ESP6500_AA_AGE=295.0+/-283.4;ESP6500_AA_GTC=60,585,1558;ESP6500_CDS_SIZES=NM_001258311.1:1575;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=232;ESP6500_EA_AC=1492,7108;ESP6500_EA_AGE=284.2+/-296.5;ESP6500_EA_GTC=122,1248,2930;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001258311.1:coding-synonymous;ESP6500_GL=PGBD5;ESP6500_GRCh38_POSITION=1:230325333;ESP6500_GTC=182,1833,4488;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001258311.1:c.1356C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001258311.1:p.(C452);ESP6500_MAF=17.3488,16.0009,16.8922;ESP6500_TAC=2197,10809	GT:AD:DP:GQ:PL	0/1:39,28:67:99:610,0,1050
chr1	230642497	rs11361885;rs397844076	AC	A	82.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.306;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.36;ReadPosRankSum=-0.79;SOR=0.33;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11361885;dbSNPBuildID=137,138;ANN=A|5_prime_UTR_variant|MODIFIER|COG2|COG2|transcript|NM_007357.2|protein_coding|1/18|c.-104delC|||||104|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|COG2|COG2|transcript|NM_001145036.1|protein_coding|1/18|c.-104delC|||||104|INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,5:13:99:120,0,215
chr1	230642745	rs4846864	G	C	931.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.12;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4846864;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|COG2|COG2|transcript|NM_007357.2|protein_coding|1/17|c.72+67G>C||||||,C|intron_variant|MODIFIER|COG2|COG2|transcript|NM_001145036.1|protein_coding|1/17|c.72+67G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4109;p3_1000G_AF=0.820487;p3_1000G_AFR_AF=0.8343;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=16112;p3_1000G_EAS_AF=0.9504;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230778491;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:960,96,0
chr1	230659431	rs1359866	T	C	530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1359866;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|COG2|COG2|transcript|NM_007357.2|protein_coding|1/17|c.73-33T>C||||||,C|intron_variant|MODIFIER|COG2|COG2|transcript|NM_001145036.1|protein_coding|1/17|c.73-33T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3785;p3_1000G_AF=0.755791;p3_1000G_AFR_AF=0.7731;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=17667;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.5994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230795177;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3257,1131;ESP6500_AA_GTC=1215,827,152;ESP6500_CDS_SIZES=NM_007357.2:2217,NM_001145036.1:2214;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=39;ESP6500_EA_AC=5242,3354;ESP6500_EA_GTC=1590,2062,646;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007357.2:intron,NM_001145036.1:intron;ESP6500_GL=COG2;ESP6500_GRCh38_POSITION=1:230659431;ESP6500_GTC=2805,2889,798;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007357.2:c.73-33T>C,NM_001145036.1:c.73-33T>C;ESP6500_MAF=39.0181,25.7748,34.5425;ESP6500_TAC=8499,4485	GT:AD:DP:GQ:PL	1/1:0,14:14:42:559,42,0
chr1	230660629	rs3736982	A	C	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.959;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.332;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736982;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|COG2|COG2|transcript|NM_007357.2|protein_coding|2/17|c.235-129A>C||||||,C|intron_variant|MODIFIER|COG2|COG2|transcript|NM_001145036.1|protein_coding|2/17|c.235-129A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1619;p3_1000G_AF=0.323283;p3_1000G_AFR_AF=0.3328;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=16836;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230796375;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:203,0,140
chr1	230661320	rs2296794	G	A	156.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.4;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296794;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|COG2|COG2|transcript|NM_007357.2|protein_coding|3/17|c.300+497G>A||||||,A|intron_variant|MODIFIER|COG2|COG2|transcript|NM_001145036.1|protein_coding|3/17|c.300+497G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4039;p3_1000G_AF=0.80651;p3_1000G_AFR_AF=0.7905;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=17777;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230797066;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:185,21,0
chr1	230683549	rs5781596;rs6143664	ATTC	A	1357.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.22;SOR=1.402;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs6143664,rs5781596;dbSNPBuildID=130,131;ANN=A|intron_variant|MODIFIER|COG2|COG2|transcript|NM_007357.2|protein_coding|10/17|c.1167-16_1167-14delCTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|COG2|COG2|transcript|NM_001145036.1|protein_coding|10/17|c.1167-16_1167-14delCTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1758;p3_1000G_AF=0.351038;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=17286;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.2107;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230819295;p3_1000G_GRCH37_REF=ATTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=INDEL;ESP6500_AA_AC=935,3331;ESP6500_AA_GTC=102,731,1300;ESP6500_CDS_SIZES=NM_007357.2:2217,NM_001145036.1:2214;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=142;ESP6500_EA_AC=1827,6427;ESP6500_EA_GTC=212,1403,2512;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007357.2:intron,NM_001145036.1:intron;ESP6500_GL=COG2;ESP6500_GRCh38_POSITION=1:230683549;ESP6500_GTC=314,2134,3812;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_007357.2:c.1167-24_1167-22del3,NM_001145036.1:c.1167-24_1167-22del3;ESP6500_MAF=22.1347,21.9175,22.0607;ESP6500_TAC=2762,9758	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1395,93,0
chr1	230693393	rs1051038	A	G	848.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1051038;dbSNPBuildID=86;ANN=G|stop_retained_variant|LOW|COG2|COG2|transcript|NM_007357.2|protein_coding|18/18|c.2217A>G|p.Ter739Ter|2368/2960|2217/2217|739/738||,G|stop_retained_variant|LOW|COG2|COG2|transcript|NM_001145036.1|protein_coding|18/18|c.2214A>G|p.Ter738Ter|2365/2957|2214/2214|738/737||;p3_1000G_AA=A|||;p3_1000G_AC=1726;p3_1000G_AF=0.344649;p3_1000G_AFR_AF=0.2345;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=17468;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230829139;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=887,3519;ESP6500_AA_AGE=340.2+/-306.1;ESP6500_AA_GTC=89,709,1405;ESP6500_CDS_SIZES=NM_007357.2:2217,NM_001145036.1:2214;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=53;ESP6500_EA_AC=1891,6709;ESP6500_EA_AGE=329.3+/-318.7;ESP6500_EA_GTC=217,1457,2626;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007357.2:coding-synonymous,NM_001145036.1:coding-synonymous;ESP6500_GL=COG2;ESP6500_GRCh38_POSITION=1:230693393;ESP6500_GTC=306,2166,4031;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007357.2:c.2217A>G,NM_001145036.1:c.2214A>G;ESP6500_HGVS_PROTEIN_VAR=NM_007357.2:p.(*739),NM_001145036.1:p.(*738);ESP6500_MAF=21.9884,20.1316,21.3594;ESP6500_TAC=2778,10228	GT:AD:DP:GQ:PL	1/1:0,27:27:81:877,81,0
chr1	230705813	rs3827749	G	A	114.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3827749;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|AGT|AGT|transcript|NM_000029.3|protein_coding|3/4|c.1124+120C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1725;p3_1000G_AF=0.344449;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=14841;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230841559;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:142,12,0
chr1	230705941	rs7080;254725	T	C	1195.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7080;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|AGT|AGT|transcript|NM_000029.3|protein_coding|3/5|c.1116A>G|p.Leu372Leu|1624/2584|1116/1458|372/485||;p3_1000G_AA=C|||;p3_1000G_AC=4871;p3_1000G_AF=0.972644;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=17641;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9155;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230841687;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4336,70;ESP6500_AA_AGE=62.3+/-99.4;ESP6500_AA_GTC=2134,68,1;ESP6500_CDS_SIZES=NM_000029.3:1458;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=100;ESP6500_EA_AC=7901,699;ESP6500_EA_AGE=173.7+/-224.2;ESP6500_EA_GTC=3628,645,27;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000029.3:coding-synonymous;ESP6500_GL=AGT;ESP6500_GRCh38_POSITION=1:230705941;ESP6500_GTC=5762,713,28;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000029.3:c.1116A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000029.3:p.(L372);ESP6500_MAF=8.1279,1.5887,5.9127;ESP6500_TAC=12237,769;CLINVAR_ALLELEID=249765;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED_CT:204949001|MedGen:CN169374;CLINVAR_CLNDN=Renal_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.230705941T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4019;CLINVAR_GENEINFO=AGT:183;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7080	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1224,105,0
chr1	230710048	rs699;18068	A	G	2822.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=1.533;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs699;dbSNPBuildID=36;ANN=G|missense_variant|MODERATE|AGT|AGT|transcript|NM_000029.3|protein_coding|2/5|c.803T>C|p.Met268Thr|1311/2584|803/1458|268/485||;p3_1000G_AA=G|||;p3_1000G_AC=3531;p3_1000G_AF=0.705072;p3_1000G_AFR_AF=0.9032;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=18819;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230845794;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3643,763;ESP6500_AA_AGE=308.8+/-290.8;ESP6500_AA_GTC=1504,635,64;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...183&amp%3Brs...699|http://omim.org/entry/106150#0001;ESP6500_CDS_SIZES=NM_000029.3:1458;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=88;ESP6500_EA_AC=3662,4938;ESP6500_EA_AGE=620.8+/-397.1;ESP6500_EA_GTC=801,2060,1439;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000029.3:missense;ESP6500_GL=AGT;ESP6500_GRCh38_POSITION=1:230710048;ESP6500_GS=81;ESP6500_GTC=2305,2695,1503;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000029.3:c.803T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000029.3:p.(M268T);ESP6500_MAF=42.5814,17.3173,43.8336;ESP6500_PH=benign:0.0;ESP6500_TAC=7305,5701;CLINVAR_ALLELEID=33107;CLINVAR_CLNDISDB=.|.|Human_Phenotype_Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED_CT:204949001|MedGen:C1862886|MedGen:CN169374;CLINVAR_CLNDN=Hypertension,_essential,_susceptibility_to|Preeclampsia,_susceptibility_to|Renal_dysplasia|Susceptibility_to_progression_to_renal_failure_in_IgA_nephropathy|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.230710048A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4036|OMIM_Allelic_Variant:106150.0001|UniProtKB_(protein):P01019#VAR_007096;CLINVAR_GENEINFO=AGT:183;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=699	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2851,273,0
chr1	230710231	rs4762;296083	G	A	1073.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.146;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.49;SOR=0.65;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4762;dbSNPBuildID=52;ANN=A|missense_variant|MODERATE|AGT|AGT|transcript|NM_000029.3|protein_coding|2/5|c.620C>T|p.Thr207Met|1128/2584|620/1458|207/485||;p3_1000G_AA=G|||;p3_1000G_AC=509;p3_1000G_AF=0.101637;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=19740;p3_1000G_EAS_AF=0.1071;p3_1000G_EUR_AF=0.1302;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230845977;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=291,4115;ESP6500_AA_AGE=151.8+/-185.6;ESP6500_AA_GTC=13,265,1925;ESP6500_CDS_SIZES=NM_000029.3:1458;ESP6500_CG=4.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=33;ESP6500_EA_AC=1130,7470;ESP6500_EA_AGE=222.9+/-259.8;ESP6500_EA_GTC=71,988,3241;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000029.3:missense;ESP6500_GL=AGT;ESP6500_GRCh38_POSITION=1:230710231;ESP6500_GS=81;ESP6500_GTC=84,1253,5166;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000029.3:c.620C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000029.3:p.(T207M);ESP6500_MAF=13.1395,6.6046,10.9257;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=1421,11585;CLINVAR_AF_ESP=0.1093;CLINVAR_AF_EXAC=0.12301;CLINVAR_AF_TGP=0.1016;CLINVAR_ALLELEID=280975;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0008660,MedGen:C0266313,OMIM:267430,SNOMED_CT:204949001;CLINVAR_CLNDN=Renal_dysplasia;CLINVAR_CLNHGVS=NC_000001.11:g.230710231G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:47933|UniProtKB_(protein):P01019#VAR_007093;CLINVAR_GENEINFO=AGT:183;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4762	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1102,0,1172
chr1	230710933	rs11122576	T	C	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=8.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122576;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|AGT|AGT|transcript|NM_000029.3|protein_coding|1/4|c.-3-80A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=687;p3_1000G_AF=0.137181;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=22439;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.0686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230846679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:219,0,224
chr1	230747720	rs12143120	C	T	379.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.018;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-1;SOR=0.384;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12143120;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_006615.2|protein_coding|1/19|c.213+11C>T||||||,T|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_001319676.1|protein_coding|1/17|c.213+11C>T||||||,T|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_016452.2|protein_coding|1/18|c.213+11C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1819;p3_1000G_AF=0.363219;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=17749;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.4314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230883466;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1616,2790;ESP6500_AA_AGE=493.1+/-362.6;ESP6500_AA_GTC=307,1002,894;ESP6500_CDS_SIZES=NM_016452.1:1995,NM_006615.2:2073;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=32;ESP6500_EA_AC=3495,5105;ESP6500_EA_AGE=505.3+/-376.3;ESP6500_EA_GTC=703,2089,1508;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016452.1:intron,NM_006615.2:intron;ESP6500_GL=CAPN9;ESP6500_GRCh38_POSITION=1:230747720;ESP6500_GTC=1010,3091,2402;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016452.1:c.213+11C>T,NM_006615.2:c.213+11C>T;ESP6500_MAF=40.6395,36.6773,39.2972;ESP6500_TAC=5111,7895	GT:AD:DP:GQ:PL	0/1:19,17:36:99:408,0,542
chr1	230747738	rs6690251	T	C	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.362;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.044;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6690251;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_006615.2|protein_coding|1/19|c.213+29T>C||||||,C|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_001319676.1|protein_coding|1/17|c.213+29T>C||||||,C|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_016452.2|protein_coding|1/18|c.213+29T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2478;p3_1000G_AF=0.494808;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=17824;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230883484;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2251,2155;ESP6500_AA_AGE=564.8+/-381.5;ESP6500_AA_GTC=603,1045,555;ESP6500_CDS_SIZES=NM_016452.1:1995,NM_006615.2:2073;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=24;ESP6500_EA_AC=5685,2915;ESP6500_EA_AGE=438.5+/-358.9;ESP6500_EA_GTC=1861,1963,476;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016452.1:intron,NM_006615.2:intron;ESP6500_GL=CAPN9;ESP6500_GRCh38_POSITION=1:230747738;ESP6500_GTC=2464,3008,1031;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016452.1:c.213+29T>C,NM_006615.2:c.213+29T>C;ESP6500_MAF=33.8953,48.9106,38.982;ESP6500_TAC=7936,5070	GT:AD:DP:GQ:PL	0/1:18,12:30:99:352,0,477
chr1	230747753	rs6690254	T	C	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.202;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.224;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.91;ReadPosRankSum=-0.219;SOR=0.17;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6690254;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_006615.2|protein_coding|1/19|c.213+44T>C||||||,C|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_001319676.1|protein_coding|1/17|c.213+44T>C||||||,C|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_016452.2|protein_coding|1/18|c.213+44T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2479;p3_1000G_AF=0.495008;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=17645;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.7147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230883499;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2247,2159;ESP6500_AA_GTC=604,1039,560;ESP6500_CDS_SIZES=NM_016452.1:1995,NM_006615.2:2073;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=18;ESP6500_EA_AC=5676,2924;ESP6500_EA_GTC=1860,1956,484;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016452.1:intron,NM_006615.2:intron;ESP6500_GL=CAPN9;ESP6500_GRCh38_POSITION=1:230747753;ESP6500_GTC=2464,2995,1044;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016452.1:c.213+44T>C,NM_006615.2:c.213+44T>C;ESP6500_MAF=34.0,49.0014,39.082;ESP6500_TAC=7923,5083	GT:AD:DP:GQ:PL	0/1:15,10:25:99:226,0,405
chr1	230762748	rs2282319	C	T	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.251;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.277;SOR=0.939;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282319;dbSNPBuildID=100;ANN=T|structural_interaction_variant|HIGH|CAPN9|CAPN9|interaction|1ZIV:A_74-A_166:NM_006615.2|protein_coding|4/20|c.498C>T||||||,T|structural_interaction_variant|HIGH|CAPN9|CAPN9|interaction|1ZIV:A_78-A_166:NM_006615.2|protein_coding|4/20|c.498C>T||||||,T|structural_interaction_variant|HIGH|CAPN9|CAPN9|interaction|2P0R:A_78-A_166:NM_006615.2|protein_coding|4/20|c.498C>T||||||,T|structural_interaction_variant|HIGH|CAPN9|CAPN9|interaction|2P0R:B_74-B_166:NM_006615.2|protein_coding|4/20|c.498C>T||||||,T|structural_interaction_variant|HIGH|CAPN9|CAPN9|interaction|2P0R:B_78-B_166:NM_006615.2|protein_coding|4/20|c.498C>T||||||,T|synonymous_variant|LOW|CAPN9|CAPN9|transcript|NM_006615.2|protein_coding|4/20|c.498C>T|p.Asn166Asn|611/2362|498/2073|166/690||,T|synonymous_variant|LOW|CAPN9|CAPN9|transcript|NM_001319676.1|protein_coding|2/18|c.309C>T|p.Asn103Asn|422/2173|309/1884|103/627||,T|synonymous_variant|LOW|CAPN9|CAPN9|transcript|NM_016452.2|protein_coding|4/19|c.498C>T|p.Asn166Asn|611/2284|498/1995|166/664||;p3_1000G_AA=T|||;p3_1000G_AC=1667;p3_1000G_AF=0.332867;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=18360;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.3797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230898494;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1176,3230;ESP6500_AA_AGE=711.9+/-408.0;ESP6500_AA_GTC=159,858,1186;ESP6500_CDS_SIZES=NM_016452.1:1995,NM_006615.2:2073;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=85;ESP6500_EA_AC=3211,5389;ESP6500_EA_AGE=652.4+/-400.9;ESP6500_EA_GTC=610,1991,1699;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016452.1:coding-synonymous,NM_006615.2:coding-synonymous;ESP6500_GL=CAPN9;ESP6500_GRCh38_POSITION=1:230762748;ESP6500_GTC=769,2849,2885;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016452.1:c.498C>T,NM_006615.2:c.498C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016452.1:p.(N166),NM_006615.2:p.(N166);ESP6500_MAF=37.3372,26.6909,33.7306;ESP6500_TAC=4387,8619	GT:AD:DP:GQ:PL	0/1:30,19:49:99:434,0,763
chr1	230780081	rs878883284	C	CGT	107.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.157;SOR=1.402;INS;HET;VARTYPE=INS;dbSNPBuildID=147;ANN=CGT|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_006615.2|protein_coding|9/19|c.1115-58_1115-57dupTG||||||INFO_REALIGN_3_PRIME,CGT|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_001319676.1|protein_coding|7/17|c.926-58_926-57dupTG||||||INFO_REALIGN_3_PRIME,CGT|intron_variant|MODIFIER|CAPN9|CAPN9|transcript|NM_016452.2|protein_coding|8/18|c.1037-58_1037-57dupTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,4:5:39:90,0,39
chr1	230839708	rs1202550	A	G	148.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1202550;dbSNPBuildID=87;ANN=G|3_prime_UTR_variant|MODIFIER|C1orf198|C1orf198|transcript|NM_032800.2|protein_coding|4/4|c.*144T>C|||||144|,G|3_prime_UTR_variant|MODIFIER|C1orf198|C1orf198|transcript|NM_001136495.1|protein_coding|4/4|c.*144T>C|||||144|,G|3_prime_UTR_variant|MODIFIER|C1orf198|C1orf198|transcript|NM_001136494.1|protein_coding|6/6|c.*144T>C|||||144|;p3_1000G_AA=A|||;p3_1000G_AC=3788;p3_1000G_AF=0.75639;p3_1000G_AFR_AF=0.5318;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=16091;p3_1000G_EAS_AF=0.9325;p3_1000G_EUR_AF=0.7018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230975454;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:177,15,0
chr1	230843911	rs41314280	G	A	434.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.462;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=1.38;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41314280;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|C1orf198|C1orf198|transcript|NM_032800.2|protein_coding|2/3|c.385-15C>T||||||,A|intron_variant|MODIFIER|C1orf198|C1orf198|transcript|NM_001136495.1|protein_coding|2/3|c.-6-15C>T||||||,A|intron_variant|MODIFIER|C1orf198|C1orf198|transcript|NM_001136494.1|protein_coding|4/5|c.271-15C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=930;p3_1000G_AF=0.185703;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=20362;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230979657;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=255,4035;ESP6500_AA_GTC=6,243,1896;ESP6500_CDS_SIZES=NM_032800.2:984,NM_001136495.1:594,NM_001136494.1:870;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=66;ESP6500_EA_AC=1445,6941;ESP6500_EA_GTC=112,1221,2860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032800.2:intron,NM_001136495.1:intron,NM_001136494.1:intron;ESP6500_GL=C1orf198;ESP6500_GRCh38_POSITION=1:230843911;ESP6500_GTC=118,1464,4756;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032800.2:c.385-15C>T,NM_001136495.1:c.-21C>T,NM_001136494.1:c.271-15C>T;ESP6500_MAF=17.2311,5.9441,13.4112;ESP6500_TAC=1700,10976	GT:AD:DP:GQ:PL	0/1:30,19:49:99:463,0,984
chr1	230868105	rs11122619	G	C	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.189;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122619;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|C1orf198|C1orf198|transcript|NM_032800.2|protein_coding|1/3|c.333+75C>G||||||,C|intron_variant|MODIFIER|C1orf198|C1orf198|transcript|NM_001136494.1|protein_coding|3/5|c.219+75C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1011;p3_1000G_AF=0.201877;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=9752;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.1352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231003851;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:95:97,0,95
chr1	230906986	rs3811502	T	A	296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.6;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.744;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-1.206;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811502;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|TTC13|TTC13|transcript|NM_024525.4|protein_coding|23/23|c.2502A>T|p.Val834Val|2544/3289|2502/2583|834/860||,A|synonymous_variant|LOW|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|21/21|c.2340A>T|p.Val780Val|2382/3127|2340/2421|780/806||;p3_1000G_AA=T|||;p3_1000G_AC=2582;p3_1000G_AF=0.515575;p3_1000G_AFR_AF=0.4198;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=15841;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.5338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231042732;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1789,2617;ESP6500_AA_AGE=528.6+/-372.4;ESP6500_AA_GTC=353,1083,767;ESP6500_CDS_SIZES=NM_024525.4:2583,NM_001122835.2:2421;ESP6500_CG=-2.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=81;ESP6500_EA_AC=4480,4120;ESP6500_EA_AGE=589.4+/-392.5;ESP6500_EA_GTC=1167,2146,987;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024525.4:coding-synonymous,NM_001122835.2:coding-synonymous;ESP6500_GL=TTC13;ESP6500_GRCh38_POSITION=1:230906986;ESP6500_GTC=1520,3229,1754;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_024525.4:c.2502A>T,NM_001122835.2:c.2340A>T;ESP6500_HGVS_PROTEIN_VAR=NM_024525.4:p.(V834),NM_001122835.2:p.(V780);ESP6500_MAF=47.907,40.6037,48.2008;ESP6500_TAC=6269,6737	GT:AD:DP:GQ:PL	0/1:10,13:23:99:325,0,224
chr1	230911564	rs10568287;rs10580953;rs140027784	TAC	T	238.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.178;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.332;SOR=0.732;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10580953,rs10568287;dbSNPBuildID=134,130;ANN=T|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|19/22|c.2230-17_2230-16delGT||||||,T|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|17/20|c.2068-17_2068-16delGT||||||;ESP6500_AA_AC=2600,1600;ESP6500_AA_GTC=828,944,328;ESP6500_CDS_SIZES=NM_024525.4:2583,NM_001122835.2:2421;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=28;ESP6500_EA_AC=5548,2646;ESP6500_EA_GTC=1888,1772,437;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024525.4:intron,NM_001122835.2:intron;ESP6500_GL=TTC13;ESP6500_GRCh38_POSITION=1:230911564;ESP6500_GTC=2716,2716,765;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024525.4:c.2230-17_2230-16del2,NM_001122835.2:c.2068-17_2068-16del2;ESP6500_MAF=32.2919,38.0952,34.2585;ESP6500_TAC=8148,4246	GT:AD:DP:GQ:PL	0/1:20,8:28:99:276,0,839
chr1	230911646	rs2153049	G	A	15.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=-0.157;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2153049;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|19/22|c.2230-97C>T||||||,A|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|17/20|c.2068-97C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3195;p3_1000G_AF=0.637979;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=16054;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.667;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231047392;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,3:14:44:44,0,282
chr1	230920400	rs143999135	A	C	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=1.77;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143999135;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|17/22|c.1983+110T>G||||||,C|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|15/20|c.1824+110T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=39;p3_1000G_AF=0.00778754;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17374;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231056146;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:247,0,212
chr1	230921501	rs2275333	A	T	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-1.357;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275333;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TTC13|TTC13|transcript|NM_024525.4|protein_coding|16/23|c.1818T>A|p.Gly606Gly|1860/3289|1818/2583|606/860||,T|synonymous_variant|LOW|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|14/21|c.1659T>A|p.Gly553Gly|1701/3127|1659/2421|553/806||;p3_1000G_AA=A|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.1354;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=14479;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231057247;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=657,3687;ESP6500_AA_GTC=41,575,1556;ESP6500_CDS_SIZES=NM_024525.4:2583,NM_001122835.2:2421;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=31;ESP6500_EA_AC=1515,7005;ESP6500_EA_GTC=135,1245,2880;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024525.4:coding-synonymous,NM_001122835.2:coding-synonymous;ESP6500_GL=TTC13;ESP6500_GRCh38_POSITION=1:230921501;ESP6500_GTC=176,1820,4436;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_024525.4:c.1818T>A,NM_001122835.2:c.1659T>A;ESP6500_HGVS_PROTEIN_VAR=NM_024525.4:p.(G606),NM_001122835.2:p.(G553);ESP6500_MAF=17.7817,15.1243,16.8843;ESP6500_TAC=2172,10692	GT:AD:DP:GQ:PL	0/1:6,7:13:99:208,0,154
chr1	230924038	rs3748774	C	T	135.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=0.967;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748774;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|14/22|c.1722-105G>A||||||,T|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|12/20|c.1563-105G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3330;p3_1000G_AF=0.664936;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=19855;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231059784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,5:6:25:164,0,25
chr1	230924990	rs3748775	T	C	840.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.698;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=4.196;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.349;SOR=0.305;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748775;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|13/22|c.1589-17A>G||||||,C|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|11/20|c.1430-17A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2430;p3_1000G_AF=0.485224;p3_1000G_AFR_AF=0.3351;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=20811;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231060736;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1486,2920;ESP6500_AA_AGE=475.0+/-357.2;ESP6500_AA_GTC=250,986,967;ESP6500_CDS_SIZES=NM_024525.4:2583,NM_001122835.2:2421;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=97;ESP6500_EA_AC=4307,4293;ESP6500_EA_AGE=576.1+/-390.3;ESP6500_EA_GTC=1086,2135,1079;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024525.4:intron,NM_001122835.2:intron;ESP6500_GL=TTC13;ESP6500_GRCh38_POSITION=1:230924990;ESP6500_GTC=1336,3121,2046;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024525.4:c.1589-17A>G,NM_001122835.2:c.1430-17A>G;ESP6500_MAF=49.9186,33.7267,44.541;ESP6500_TAC=5793,7213	GT:AD:DP:GQ:PL	0/1:25,32:57:99:869,0,664
chr1	230928832	rs5781609;rs5781610	T	TCTC	79.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.96;SOR=2.093;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5781610,rs5781609;dbSNPBuildID=132,131;ANN=TCTC|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|12/22|c.1457+104_1457+105insGAG||||||,TCTC|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|10/20|c.1298+104_1298+105insGAG||||||;p3_1000G_AC=3326;p3_1000G_AF=0.664137;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=18760;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231064578;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,3:6:99:117,0,117
chr1	230928865	rs950029	G	A	132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.12;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.825;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs950029;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|12/22|c.1457+72C>T||||||,A|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|10/20|c.1298+72C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2427;p3_1000G_AF=0.484625;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=18257;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231064611;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:92:161,0,92
chr1	230931490	rs11122624	C	T	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.291;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.702;SOR=0.896;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122624;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|10/22|c.1126-18G>A||||||,T|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|8/20|c.967-18G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2429;p3_1000G_AF=0.485024;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=20556;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231067236;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1474,2932;ESP6500_AA_AGE=471.7+/-356.1;ESP6500_AA_GTC=245,984,974;ESP6500_CDS_SIZES=NM_024525.4:2583,NM_001122835.2:2421;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=76;ESP6500_EA_AC=4308,4292;ESP6500_EA_AGE=576.5+/-390.4;ESP6500_EA_GTC=1086,2136,1078;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024525.4:intron,NM_001122835.2:intron;ESP6500_GL=TTC13;ESP6500_GRCh38_POSITION=1:230931490;ESP6500_GTC=1331,3120,2052;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024525.4:c.1126-18G>A,NM_001122835.2:c.967-18G>A;ESP6500_MAF=49.907,33.4544,44.4564;ESP6500_TAC=5782,7224	GT:AD:DP:GQ:PL	0/1:12,17:29:99:434,0,358
chr1	230933906	rs1890351	A	C	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.795;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.307;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.894;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1890351;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|8/22|c.901-45T>G||||||,C|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|6/20|c.742-45T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3329;p3_1000G_AF=0.664736;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=15392;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231069652;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2972,1402;ESP6500_AA_GTC=1014,944,229;ESP6500_CDS_SIZES=NM_024525.4:2583,NM_001122835.2:2421;ESP6500_CG=2.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=22;ESP6500_EA_AC=5842,2714;ESP6500_EA_GTC=2003,1836,439;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024525.4:intron,NM_001122835.2:intron;ESP6500_GL=TTC13;ESP6500_GRCh38_POSITION=1:230933906;ESP6500_GTC=3017,2780,668;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_024525.4:c.901-45T>G,NM_001122835.2:c.742-45T>G;ESP6500_MAF=31.7204,32.053,31.8329;ESP6500_TAC=8814,4116	GT:AD:DP:GQ:PL	0/1:5,11:16:99:243,0,111
chr1	230945558	rs6673085	T	G	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.35;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6673085;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|4/22|c.514-104A>C||||||,G|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|4/20|c.514-5002A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2774;p3_1000G_AF=0.553914;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=22907;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.5358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231081304;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,18:36:99:521,0,559
chr1	230956434	rs11122161	G	A	14.91	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=2.58;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122161;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|3/22|c.442+1790C>T||||||,A|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|3/20|c.442+1790C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1701;p3_1000G_AF=0.339657;p3_1000G_AFR_AF=0.3086;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=18050;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231092180;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,3:14:43:43,0,271
chr1	230956465	rs34436246	T	TG	27.74	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.589;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=0.548;SOR=0.971;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34436246;dbSNPBuildID=126;ANN=TG|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|3/22|c.442+1758dupC||||||,TG|intron_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|3/20|c.442+1758dupC||||||;p3_1000G_AA=GGG|GG|GGG|deletion;p3_1000G_AC=1721;p3_1000G_AF=0.34365;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=17267;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231092211;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:11,3:14:65:65,0,351
chr1	230958304	rs577641506;rs60736833;rs796751969	GA	G	90.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.751;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=-0.055;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs60736833;dbSNPBuildID=130,142,146;ANN=G|splice_region_variant&intron_variant|LOW|TTC13|TTC13|transcript|NM_024525.4|protein_coding|2/22|c.367-6delT||||||,G|splice_region_variant&intron_variant|LOW|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|2/20|c.367-6delT||||||	GT:AD:DP:GQ:PL	0/1:8,7:15:99:128,0,125
chr1	230978719	rs76376323	C	G	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.039;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=10.414;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=0.584;SOR=1.044;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76376323;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|TTC13|TTC13|transcript|NM_024525.4|protein_coding|1/23|c.112G>C|p.Gly38Arg|154/3289|112/2583|38/860||,G|missense_variant|MODERATE|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|1/21|c.112G>C|p.Gly38Arg|154/3127|112/2421|38/806||,G|upstream_gene_variant|MODIFIER|ARV1|ARV1|transcript|NM_022786.1|protein_coding||c.-387C>G|||||358|;p3_1000G_AA=C|||;p3_1000G_AC=1288;p3_1000G_AF=0.257188;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=7397;p3_1000G_EAS_AF=0.3899;p3_1000G_EUR_AF=0.2396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231114465;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:156,0,249
chr1	230978849	rs11122174	C	T	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.796;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.164;SOR=1.104;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122174;dbSNPBuildID=120;ANN=T|5_prime_UTR_variant|MODIFIER|TTC13|TTC13|transcript|NM_024525.4|protein_coding|1/23|c.-19G>A|||||19|,T|5_prime_UTR_variant|MODIFIER|TTC13|TTC13|transcript|NM_001122835.2|protein_coding|1/21|c.-19G>A|||||19|,T|upstream_gene_variant|MODIFIER|ARV1|ARV1|transcript|NM_022786.1|protein_coding||c.-257C>T|||||228|;p3_1000G_AA=T|||;p3_1000G_AC=2560;p3_1000G_AF=0.511182;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=10201;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.4274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231114595;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,3:16:39:39,0,289
chr1	230988309	rs10779804	T	C	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.418;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.895;SOR=0.421;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10779804;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ARV1|ARV1|transcript|NM_022786.1|protein_coding|1/5|c.175-11T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1927;p3_1000G_AF=0.384784;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=14498;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.3469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231124055;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1499,2907;ESP6500_AA_AGE=667.6+/-401.9;ESP6500_AA_GTC=256,987,960;ESP6500_CDS_SIZES=NM_022786.1:816;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=110;ESP6500_EA_AC=2893,5691;ESP6500_EA_AGE=665.8+/-402.3;ESP6500_EA_GTC=476,1941,1875;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022786.1:intron;ESP6500_GL=ARV1;ESP6500_GRCh38_POSITION=1:230988309;ESP6500_GTC=732,2928,2835;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022786.1:c.175-11T>C;ESP6500_MAF=33.7022,34.0218,33.8106;ESP6500_TAC=4392,8598	GT:AD:DP:GQ:PL	0/1:21,15:36:99:354,0,564
chr1	230990426	rs10864648	T	G	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.28;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10864648;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|ARV1|ARV1|transcript|NM_022786.1|protein_coding|3/5|c.448+163T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1906;p3_1000G_AF=0.380591;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=15922;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.3469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231126172;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:90:104,0,90
chr1	231162953	rs112692510	T	G	2062.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=4.649;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=29.47;ReadPosRankSum=-0.673;SOR=1.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs112692510;dbSNPBuildID=132;ANN=G|5_prime_UTR_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001004342.3|protein_coding|1/10|c.-17T>G|||||17|,G|5_prime_UTR_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001300889.1|protein_coding|1/12|c.-17T>G|||||17|;p3_1000G_AA=G|||;p3_1000G_AC=763;p3_1000G_AF=0.152356;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=13586;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.0755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231298699;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=660,3222;ESP6500_AA_GTC=57,546,1338;ESP6500_CDS_SIZES=NM_001004342.3:2352;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=22;ESP6500_EA_AC=523,7755;ESP6500_EA_GTC=17,489,3633;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004342.3:utr-5;ESP6500_GL=TRIM67;ESP6500_GRCh38_POSITION=1:231162953;ESP6500_GTC=74,1035,4971;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004342.3:c.-17T>G;ESP6500_MAF=6.318,17.0015,9.7286;ESP6500_TAC=1183,10977	GT:AD:DP:GQ:PL	1/1:1,69:70:99:2091,200,0
chr1	231163152	rs61750990	C	A	2097.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.78;SOR=1.503;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61750990;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|TRIM67|TRIM67|transcript|NM_001004342.3|protein_coding|1/10|c.183C>A|p.Ala61Ala|225/8522|183/2352|61/783||,A|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001300889.1|protein_coding|1/11|c.122-59C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=431;p3_1000G_AF=0.0860623;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=8764;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231298898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2126,192,0
chr1	231186197	rs12070228	C	A	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.928;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.904;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12070228;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001004342.3|protein_coding|1/9|c.1045-11174C>A||||||,A|intron_variant|MODIFIER|LOC149373|LOC149373|transcript|NM_001256615.1|protein_coding|1/2|c.52-24G>T||||||,A|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001300889.1|protein_coding|3/11|c.859-11174C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1553;p3_1000G_AF=0.310104;p3_1000G_AFR_AF=0.5098;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=19671;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231321943;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,12:21:99:312,0,321
chr1	231187593	rs16853942	A	G	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.582;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.18;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-0.603;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16853942;dbSNPBuildID=123;ANN=G|5_prime_UTR_variant|MODIFIER|LOC149373|LOC149373|transcript|NM_001256615.1|protein_coding|1/3|c.-26T>C|||||26|,G|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001004342.3|protein_coding|1/9|c.1045-9778A>G||||||,G|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001300889.1|protein_coding|3/11|c.859-9778A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=939;p3_1000G_AF=0.1875;p3_1000G_AFR_AF=0.3964;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=17505;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231323339;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,14:31:99:288,0,391
chr1	231199034	rs11122249	C	A	337.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.639;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.108;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=1.94;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122249;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001004342.3|protein_coding|2/9|c.1141-13C>A||||||,A|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001300889.1|protein_coding|4/11|c.955-13C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=755;p3_1000G_AF=0.150759;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=19352;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231334780;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1034,2762;ESP6500_AA_GTC=161,712,1025;ESP6500_CDS_SIZES=NM_001004342.3:2352;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=155;ESP6500_EA_AC=581,7663;ESP6500_EA_GTC=20,541,3561;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004342.3:intron;ESP6500_GL=TRIM67;ESP6500_GRCh38_POSITION=1:231199034;ESP6500_GTC=181,1253,4586;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004342.3:c.1141-13C>A;ESP6500_MAF=7.0475,27.2392,13.4136;ESP6500_TAC=1615,10425	GT:AD:DP:GQ:PL	0/1:34,18:52:99:366,0,1020
chr1	231201285	rs11122252	C	A	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.256;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.588;SOR=1.276;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11122252;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001004342.3|protein_coding|4/9|c.1375-73C>A||||||,A|intron_variant|MODIFIER|TRIM67|TRIM67|transcript|NM_001300889.1|protein_coding|6/11|c.1189-73C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1024;p3_1000G_AF=0.204473;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=18639;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231337031;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:291,0,288
chr1	231227177	rs491182	G	A	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.621;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.998;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs491182;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|C1orf131|C1orf131|transcript|NM_152379.3|protein_coding|3/6|c.511-109C>T||||||,A|intron_variant|MODIFIER|C1orf131|C1orf131|transcript|NM_001300830.1|protein_coding|3/6|c.508-109C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1627;p3_1000G_AF=0.32488;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=21751;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231362923;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:326,0,276
chr1	231241060	rs2274067	G	C	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.9;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2274067;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|C1orf131|C1orf131|transcript|NM_152379.3|protein_coding|1/7|c.82C>G|p.Leu28Val|128/1444|82/882|28/293||,C|missense_variant|MODERATE|C1orf131|C1orf131|transcript|NM_001300830.1|protein_coding|1/7|c.82C>G|p.Leu28Val|128/1441|82/879|28/292||,C|upstream_gene_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_014236.3|protein_coding||c.-319G>C|||||113|,C|upstream_gene_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_001316350.1|protein_coding||c.-319G>C|||||113|;p3_1000G_AA=G|||;p3_1000G_AC=441;p3_1000G_AF=0.0880591;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=15558;p3_1000G_EAS_AF=0.0863;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231376806;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=210,4196;ESP6500_AA_AGE=129.4+/-166.1;ESP6500_AA_GTC=4,202,1997;ESP6500_CDS_SIZES=NM_152379.2:882;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=113;ESP6500_EA_AC=888,7712;ESP6500_EA_AGE=199.7+/-243.7;ESP6500_EA_GTC=52,784,3464;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152379.2:missense;ESP6500_GL=C1orf131;ESP6500_GRCh38_POSITION=1:231241060;ESP6500_GS=32;ESP6500_GTC=56,986,5461;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_152379.2:c.82C>G;ESP6500_HGVS_PROTEIN_VAR=NM_152379.2:p.(L28V);ESP6500_MAF=10.3256,4.7662,8.4423;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=1098,11908	GT:AD:DP:GQ:PL	0/1:20,17:37:99:464,0,488
chr1	231241335	rs518686;296108	C	T	574.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.74;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs518686;dbSNPBuildID=83;ANN=T|5_prime_UTR_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_014236.3|protein_coding|1/16|c.-44C>T|||||44|,T|5_prime_UTR_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_001316350.1|protein_coding|1/15|c.-44C>T|||||44|,T|upstream_gene_variant|MODIFIER|C1orf131|C1orf131|transcript|NM_152379.3|protein_coding||c.-194G>A|||||148|,T|upstream_gene_variant|MODIFIER|C1orf131|C1orf131|transcript|NM_001300830.1|protein_coding||c.-194G>A|||||148|;p3_1000G_AA=C|||;p3_1000G_AC=2914;p3_1000G_AF=0.581869;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=14647;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.5229;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231377081;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2536,1870;ESP6500_AA_AGE=629.7+/-395.3;ESP6500_AA_GTC=710,1116,377;ESP6500_CDS_SIZES=NM_014236.3:2043;ESP6500_CG=2.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=79;ESP6500_EA_AC=4629,3971;ESP6500_EA_AGE=600.6+/-394.2;ESP6500_EA_GTC=1244,2141,915;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014236.3:utr-5;ESP6500_GL=GNPAT;ESP6500_GRCh38_POSITION=1:231241335;ESP6500_GTC=1954,3257,1292;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014236.3:c.-44C>T;ESP6500_MAF=46.1744,42.4421,44.91;ESP6500_TAC=7165,5841;CLINVAR_ALLELEID=279735;CLINVAR_CLNDISDB=MedGen:C0282529,Orphanet:ORPHA177,SNOMED_CT:56692003|MedGen:CN169374;CLINVAR_CLNDN=Rhizomelic_chondrodysplasia_punctata|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.231241335C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4013;CLINVAR_GENEINFO=GNPAT:8443;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=518686	GT:AD:DP:GQ:PL	1/1:0,20:20:60:603,60,0
chr1	231260500	rs371186260	C	T	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.268;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371186260;dbSNPBuildID=138;ANN=T|splice_region_variant&intron_variant|LOW|GNPAT|GNPAT|transcript|NM_014236.3|protein_coding|2/15|c.262-7C>T||||||,T|splice_region_variant&intron_variant|LOW|GNPAT|GNPAT|transcript|NM_001316350.1|protein_coding|1/14|c.79-7C>T||||||;ESP6500_AA=C;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_014236.3:2043;ESP6500_CG=-1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=123;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014236.3:intron;ESP6500_GL=GNPAT;ESP6500_GRCh38_POSITION=1:231260500;ESP6500_GTC=0,1,6502;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014236.3:c.262-7C>T;ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:16,14:30:99:332,0,337
chr1	231265159	rs849714	A	G	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs849714;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_014236.3|protein_coding|4/15|c.569-134A>G||||||,G|intron_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_001316350.1|protein_coding|3/14|c.386-134A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3072;p3_1000G_AF=0.613419;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=14703;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.5348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231400905;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	231265458	rs6702011	T	C	198.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=9.7;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=0.854;SOR=2.209;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6702011;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_014236.3|protein_coding|5/15|c.696+38T>C||||||,C|intron_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_001316350.1|protein_coding|4/14|c.513+38T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1341;p3_1000G_AF=0.267772;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=17787;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.2306;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231401204;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1297,3109;ESP6500_AA_AGE=422.5+/-339.8;ESP6500_AA_GTC=169,959,1075;ESP6500_CDS_SIZES=NM_014236.3:2043;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=2217,6383;ESP6500_EA_AGE=362.4+/-332.7;ESP6500_EA_GTC=278,1661,2361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014236.3:intron;ESP6500_GL=GNPAT;ESP6500_GRCh38_POSITION=1:231265458;ESP6500_GTC=447,2620,3436;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014236.3:c.696+38T>C;ESP6500_MAF=25.7791,29.4371,27.0183;ESP6500_TAC=3514,9492	GT:AD:DP:GQ:PL	0/1:2,6:8:59:227,0,59
chr1	231265850	rs532226	T	C	730.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.15;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs532226;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_014236.3|protein_coding|6/15|c.772+63T>C||||||,C|intron_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_001316350.1|protein_coding|5/14|c.589+63T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2881;p3_1000G_AF=0.57528;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=20240;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.5189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231401596;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=781,603;ESP6500_AA_GTC=216,349,127;ESP6500_CDS_SIZES=NM_014236.3:2043;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=42;ESP6500_EA_AC=1710,1472;ESP6500_EA_GTC=463,784,344;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014236.3:intron;ESP6500_GL=GNPAT;ESP6500_GRCh38_POSITION=1:231265850;ESP6500_GTC=679,1133,471;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014236.3:c.772+63T>C;ESP6500_MAF=46.2602,43.5694,45.4446;ESP6500_TAC=2491,2075	GT:AD:DP:GQ:PL	1/1:0,19:19:57:759,57,0
chr1	231266156	rs574553;260363	G	A	3306.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=105;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=0.921;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs574553;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|GNPAT|GNPAT|transcript|NM_014236.3|protein_coding|7/16|c.915G>A|p.Glu305Glu|1121/2680|915/2043|305/680||,A|synonymous_variant|LOW|GNPAT|GNPAT|transcript|NM_001316350.1|protein_coding|6/15|c.732G>A|p.Glu244Glu|938/2497|732/1860|244/619||;p3_1000G_AA=A|||;p3_1000G_AC=3148;p3_1000G_AF=0.628594;p3_1000G_AFR_AF=0.7012;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=19809;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.5318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231401902;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3020,1386;ESP6500_AA_AGE=455.9+/-351.1;ESP6500_AA_GTC=1038,944,221;ESP6500_CDS_SIZES=NM_014236.3:2043;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=109;ESP6500_EA_AC=4716,3884;ESP6500_EA_AGE=544.7+/-384.6;ESP6500_EA_GTC=1291,2134,875;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014236.3:coding-synonymous;ESP6500_GL=GNPAT;ESP6500_GRCh38_POSITION=1:231266156;ESP6500_GTC=2329,3078,1096;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014236.3:c.915G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014236.3:p.(E305);ESP6500_MAF=45.1628,31.4571,40.5198;ESP6500_TAC=7736,5270;CLINVAR_ALLELEID=249768;CLINVAR_CLNDISDB=MedGen:C0282529,Orphanet:ORPHA177,SNOMED_CT:56692003|MedGen:CN169374;CLINVAR_CLNDN=Rhizomelic_chondrodysplasia_punctata|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.231266156G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4022;CLINVAR_GENEINFO=GNPAT:8443;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=574553	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3335,315,0
chr1	231277560	rs150776112	T	C	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.171;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.485;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.369;SOR=0.951;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150776112;dbSNPBuildID=134;ANN=C|3_prime_UTR_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_014236.3|protein_coding|16/16|c.*18T>C|||||18|,C|3_prime_UTR_variant|MODIFIER|GNPAT|GNPAT|transcript|NM_001316350.1|protein_coding|15/15|c.*18T>C|||||18|;p3_1000G_AA=T|||;p3_1000G_AC=18;p3_1000G_AF=0.00359425;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21671;p3_1000G_EAS_AF=0.0179;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231413306;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_014236.3:2043;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=77;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014236.3:utr-3;ESP6500_GL=GNPAT;ESP6500_GRCh38_POSITION=1:231277560;ESP6500_GTC=0,2,6501;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014236.3:c.*18T>C;ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_TAC=2,13004	GT:AD:DP:GQ:PL	0/1:17,12:29:99:273,0,413
chr1	231335522	rs35468792	AT	A	157.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.921;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=-0.511;SOR=2.584;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35468792;dbSNPBuildID=126;ANN=A|3_prime_UTR_variant|MODIFIER|EXOC8|EXOC8|transcript|NM_175876.4|protein_coding|1/1|c.*45delA|||||45|,A|upstream_gene_variant|MODIFIER|SPRTN|SPRTN|transcript|NM_032018.6|protein_coding||c.-2861delT|||||2413|,A|upstream_gene_variant|MODIFIER|SPRTN|SPRTN|transcript|NM_001010984.3|protein_coding||c.-2861delT|||||2413|,A|upstream_gene_variant|MODIFIER|SPRTN|SPRTN|transcript|NM_001261462.2|protein_coding||c.-2861delT|||||2413|;p3_1000G_AA=T|T|-|deletion;p3_1000G_AC=1344;p3_1000G_AF=0.268371;p3_1000G_AFR_AF=0.3185;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=12586;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231471268;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2331;p3_1000G_VT=INDEL;ESP6500_AA_AC=1309,2953;ESP6500_AA_GTC=233,843,1055;ESP6500_CDS_SIZES=NM_175876.3:2178;ESP6500_CG=4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=24;ESP6500_EA_AC=1620,6626;ESP6500_EA_GTC=178,1264,2681;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175876.3:utr-3;ESP6500_GL=EXOC8;ESP6500_GRCh38_POSITION=1:231335522;ESP6500_GTC=411,2107,3736;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_175876.3:c.*45del1;ESP6500_MAF=19.6459,30.7133,23.417;ESP6500_TAC=2929,9579	GT:AD:DP:GQ:PL	0/1:4,6:10:99:195,0,131
chr1	231421509	rs12097901;242640	C	G	787.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12097901;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|EGLN1|EGLN1|transcript|NM_022051.2|protein_coding|1/5|c.380G>C|p.Cys127Ser|3536/7097|380/1281|127/426||;p3_1000G_AA=G|||;p3_1000G_AC=1304;p3_1000G_AF=0.260383;p3_1000G_AFR_AF=0.3366;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=7389;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.0596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231557255;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.29630;CLINVAR_AF_TGP=0.2604;CLINVAR_ALLELEID=165954;CLINVAR_CLNDISDB=MedGen:C0152264,Orphanet:ORPHA90042,SNOMED_CT:17342003;CLINVAR_CLNDISDBINCL=MedGen:C1836778,OMIM:609070;CLINVAR_CLNDN=Familial_erythrocytosis;CLINVAR_CLNDNINCL=Hemoglobin,_high_altitude_adaptation;CLINVAR_CLNHGVS=NC_000001.11:g.231421509C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNSIGINCL=156155:Affects;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:67280|OMIM_Allelic_Variant:606425.0004|UniProtKB_(protein):Q9GZT9#VAR_071859;CLINVAR_GENEINFO=EGLN1:54583;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12097901	GT:AD:DP:GQ:PL	1/1:0,25:25:75:816,75,0
chr1	231529007	rs1621135	T	A	353.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1621135;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|TSNAX|TSNAX|transcript|NM_005999.2|protein_coding|1/5|c.16+181T>A||||||,A|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028393.1|pseudogene|1/15|n.174+181T>A||||||,A|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028399.1|pseudogene|1/8|n.174+181T>A||||||,A|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028400.1|pseudogene|1/7|n.174+181T>A||||||,A|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028394.1|pseudogene|1/13|n.174+181T>A||||||,A|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028395.1|pseudogene|1/12|n.174+181T>A||||||,A|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028396.1|pseudogene|1/12|n.174+181T>A||||||,A|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028397.1|pseudogene|1/12|n.174+181T>A||||||,A|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028398.1|pseudogene|1/10|n.174+181T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1457;p3_1000G_AF=0.290935;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=16875;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.1093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231664753;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:382,33,0
chr1	231616560	rs9661331	C	T	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.357;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-0.697;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9661331;dbSNPBuildID=119;ANN=T|upstream_gene_variant|MODIFIER|LINC00582|LINC00582|transcript|NR_034037.1|pseudogene||n.-4470G>A|||||4470|,T|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028393.1|pseudogene|4/15|n.526-84C>T||||||,T|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028399.1|pseudogene|5/8|n.654-84C>T||||||,T|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028400.1|pseudogene|4/7|n.526-84C>T||||||,T|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028394.1|pseudogene|5/13|n.654-84C>T||||||,T|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028395.1|pseudogene|5/12|n.654-84C>T||||||,T|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028396.1|pseudogene|4/12|n.526-84C>T||||||,T|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028397.1|pseudogene|5/12|n.653+55305C>T||||||,T|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028398.1|pseudogene|3/10|n.407+55305C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2231;p3_1000G_AF=0.445487;p3_1000G_AFR_AF=0.3525;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=22705;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231752306;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,14:22:99:363,0,164
chr1	231795302	rs2273890	T	C	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.572;SOR=0.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273890;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001164537.1|protein_coding|8/13|c.1785+6T>C||||||,C|splice_region_variant&intron_variant|LOW|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028394.1|pseudogene|12/13|n.2538+6T>C||||||,C|splice_region_variant&intron_variant|LOW|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028395.1|pseudogene|12/12|n.2538+6T>C||||||,C|splice_region_variant&intron_variant|LOW|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028396.1|pseudogene|11/12|n.2410+6T>C||||||,C|splice_region_variant&intron_variant|LOW|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028397.1|pseudogene|11/12|n.2275+6T>C||||||,C|splice_region_variant&intron_variant|LOW|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028398.1|pseudogene|9/10|n.2029+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001164544.1|protein_coding|7/8|c.1689+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001164545.1|protein_coding|7/7|c.1689+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001164539.1|protein_coding|7/9|c.1689+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001012959.1|protein_coding|7/9|c.1689+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001164542.1|protein_coding|7/9|c.1689+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001164538.1|protein_coding|7/10|c.1689+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001164541.1|protein_coding|7/9|c.1689+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001012957.1|protein_coding|7/12|c.1689+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_001164540.1|protein_coding|5/10|c.1323+6T>C||||||,C|splice_region_variant&intron_variant|LOW|DISC1|DISC1|transcript|NM_018662.2|protein_coding|7/12|c.1689+6T>C||||||,C|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028393.1|pseudogene|10/15|n.2356-4806T>C||||||,C|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164548.1|protein_coding|6/6|c.1635-23027T>C||||||,C|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164556.1|protein_coding|4/4|c.585-23027T>C||||||,C|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164546.1|protein_coding|6/6|c.1634+24232T>C||||||,C|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164547.1|protein_coding|6/7|c.1634+24232T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=523;p3_1000G_AF=0.104433;p3_1000G_AFR_AF=0.121;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=19979;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.1252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231931048;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=457,3949;ESP6500_AA_AGE=215.1+/-234.2;ESP6500_AA_GTC=27,403,1773;ESP6500_CDS_SIZES=NM_018662.2:2565,NM_001164556.1:606,NM_001164548.1:1656,NM_001164547.1:1680,NM_001164546.1:1680,NM_001164545.1:1740,NM_001164544.1:1989,NM_001164542.1:2046,NM_001164541.1:2088,NM_001164540.1:2199,NM_001164539.1:2268,NM_001164538.1:2412,NM_001164537.1:2661,NM_001012959.1:2037,NM_001012957.1:2499;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=1200,7400;ESP6500_EA_AGE=239.9+/-270.8;ESP6500_EA_GTC=87,1026,3187;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018662.2:intron,NM_001164556.1:intron,NM_001164548.1:intron,NM_001164547.1:intron,NM_001164546.1:intron,NM_001164545.1:intron,NM_001164544.1:intron,NM_001164542.1:intron,NM_001164541.1:intron,NM_001164540.1:intron,NM_001164539.1:intron,NM_001164538.1:intron,NM_001164537.1:intron,NM_001012959.1:intron,NM_001012957.1:intron;ESP6500_GL=DISC1;ESP6500_GRCh38_POSITION=1:231795302;ESP6500_GTC=114,1429,4960;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018662.2:c.1689+6T>C,NM_001164556.1:c.585-23027T>C,NM_001164548.1:c.1635-23027T>C,NM_001164547.1:c.1634+24232T>C,NM_001164546.1:c.1634+24232T>C,NM_001164545.1:c.1689+6T>C,NM_001164544.1:c.1689+6T>C,NM_001164542.1:c.1689+6T>C,NM_001164541.1:c.1689+6T>C,NM_001164540.1:c.1323+6T>C,NM_001164539.1:c.1689+6T>C,NM_001164538.1:c.1689+6T>C,NM_001164537.1:c.1785+6T>C,NM_001012959.1:c.1689+6T>C,NM_001012957.1:c.1689+6T>C;ESP6500_MAF=13.9535,10.3722,12.7403;ESP6500_TAC=1657,11349	GT:AD:DP:GQ:PL	0/1:25,18:43:99:464,0,595
chr1	231800270	rs2759354	A	G	1080.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.58;SOR=2.621;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2759354;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028393.1|pseudogene|11/15|n.2458+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164537.1|protein_coding|9/13|c.1888+60A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028394.1|pseudogene|13/13|n.2641+60A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028395.1|pseudogene|12/12|n.2538+4974A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028396.1|pseudogene|12/12|n.2513+60A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028397.1|pseudogene|12/12|n.2378+60A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028398.1|pseudogene|10/10|n.2132+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164544.1|protein_coding|8/8|c.1792+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164545.1|protein_coding|7/7|c.1689+4974A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164548.1|protein_coding|6/6|c.1635-18059A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164556.1|protein_coding|4/4|c.585-18059A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164539.1|protein_coding|8/9|c.1792+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001012959.1|protein_coding|8/9|c.1792+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164542.1|protein_coding|8/9|c.1792+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164546.1|protein_coding|6/6|c.1634+29200A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164538.1|protein_coding|8/10|c.1792+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164541.1|protein_coding|8/9|c.1792+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164547.1|protein_coding|6/7|c.1634+29200A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001012957.1|protein_coding|8/12|c.1792+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164540.1|protein_coding|6/10|c.1426+60A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_018662.2|protein_coding|8/12|c.1792+60A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4950;p3_1000G_AF=0.988419;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=18568;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231936016;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1109,90,0
chr1	231813075	rs2759346	A	G	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.3;ReadPosRankSum=-0.431;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2759346;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|DISC2|DISC2|transcript|NR_002227.2|pseudogene||n.*1551T>C|||||1551|,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028393.1|pseudogene|11/15|n.2459-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164537.1|protein_coding|9/13|c.1889-5254A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028394.1|pseudogene|13/13|n.2642-5254A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028395.1|pseudogene|12/12|n.2539-5254A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028396.1|pseudogene|12/12|n.2514-5254A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028397.1|pseudogene|12/12|n.2379-5254A>G||||||,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028398.1|pseudogene|10/10|n.2133-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164544.1|protein_coding|8/8|c.1793-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164545.1|protein_coding|7/7|c.1690-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164548.1|protein_coding|6/6|c.1635-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164556.1|protein_coding|4/4|c.585-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164539.1|protein_coding|8/9|c.1793-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001012959.1|protein_coding|8/9|c.1793-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164542.1|protein_coding|8/9|c.1793-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164546.1|protein_coding|6/6|c.1634+42005A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164538.1|protein_coding|8/10|c.1793-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164541.1|protein_coding|8/9|c.1793-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164547.1|protein_coding|6/7|c.1634+42005A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001012957.1|protein_coding|8/12|c.1793-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164540.1|protein_coding|6/10|c.1427-5254A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_018662.2|protein_coding|8/12|c.1793-5254A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2541;p3_1000G_AF=0.507388;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=19332;p3_1000G_EAS_AF=0.4187;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231948821;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:31:156,0,31
chr1	231866646	rs3082	A	G	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.091;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.721;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-1.937;SOR=0.357;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3082;dbSNPBuildID=36;ANN=G|3_prime_UTR_variant|MODIFIER|DISC1|DISC1|transcript|NM_001012959.1|protein_coding|10/10|c.*68A>G|||||68|,G|intron_variant|MODIFIER|TSNAX-DISC1|TSNAX-DISC1|transcript|NR_028393.1|pseudogene|12/15|n.2647+48129A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164537.1|protein_coding|10/13|c.2077+48129A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164542.1|protein_coding|9/9|c.1981+48129A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164546.1|protein_coding|6/6|c.1635-92182A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164538.1|protein_coding|9/10|c.1981+48129A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164541.1|protein_coding|9/9|c.1981+48129A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164547.1|protein_coding|6/7|c.1635-92182A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001012957.1|protein_coding|9/12|c.1981+48129A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_001164540.1|protein_coding|7/10|c.1615+48129A>G||||||,G|intron_variant|MODIFIER|DISC1|DISC1|transcript|NM_018662.2|protein_coding|9/12|c.1981+48129A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1726;p3_1000G_AF=0.344649;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=16674;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.3847;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232002392;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=311,1073;ESP6500_AA_GTC=27,257,408;ESP6500_CDS_SIZES=NM_018662.2:2565,NM_001164547.1:1680,NM_001164546.1:1680,NM_001164542.1:2046,NM_001164541.1:2088,NM_001164540.1:2199,NM_001164538.1:2412,NM_001164537.1:2661,NM_001012959.1:2037,NM_001012957.1:2499;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=34;ESP6500_EA_AC=1114,2068;ESP6500_EA_GTC=197,720,674;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018662.2:intron,NM_001164547.1:intron,NM_001164546.1:intron,NM_001164542.1:intron,NM_001164541.1:intron,NM_001164540.1:intron,NM_001164538.1:intron,NM_001164537.1:intron,NM_001012959.1:utr-3,NM_001012957.1:intron;ESP6500_GL=DISC1;ESP6500_GRCh38_POSITION=1:231866646;ESP6500_GTC=224,977,1082;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018662.2:c.1981+48129A>G,NM_001164547.1:c.1635-92182A>G,NM_001164546.1:c.1635-92182A>G,NM_001164542.1:c.1981+48129A>G,NM_001164541.1:c.1981+48129A>G,NM_001164540.1:c.1615+48129A>G,NM_001164538.1:c.1981+48129A>G,NM_001164537.1:c.2077+48129A>G,NM_001012959.1:c.*68A>G,NM_001012957.1:c.1981+48129A>G;ESP6500_MAF=35.0094,22.4711,31.2089;ESP6500_TAC=1425,3141	GT:AD:DP:GQ:PL	0/1:13,12:25:99:294,0,331
chr1	232399211	rs12043251	T	C	2132.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=0.723;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12043251;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|21/21|c.5085A>G|p.Arg1695Arg|5354/6599|5085/5169|1695/1722||;p3_1000G_AA=C|||;p3_1000G_AC=2011;p3_1000G_AF=0.401558;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=19239;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.2654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232534957;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1049,3137;ESP6500_AA_GTC=147,755,1191;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=120;ESP6500_EA_AC=2166,6344;ESP6500_EA_GTC=268,1630,2357;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:coding-synonymous;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232399211;ESP6500_GTC=415,2385,3548;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.5085A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020808.3:p.(R1695);ESP6500_MAF=25.4524,25.0597,25.3229;ESP6500_TAC=3215,9481	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2161,195,0
chr1	232399284	rs629939	C	T	1150.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs629939;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|20/20|c.5023-11G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4996;p3_1000G_AF=0.997604;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19358;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.993;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232535030;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4029,1;ESP6500_AA_GTC=2014,1,0;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=73;ESP6500_EA_AC=8361,53;ESP6500_EA_GTC=4155,51,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:intron;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232399284;ESP6500_GTC=6169,52,1;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.5023-11G>A;ESP6500_MAF=0.6299,0.0248,0.4339;ESP6500_TAC=12390,54	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1179,111,0
chr1	232403473	rs2275303	C	T	951.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.84;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275303;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|19/21|c.4915G>A|p.Gly1639Ser|5184/6599|4915/5169|1639/1722||;p3_1000G_AA=C|||;p3_1000G_AC=617;p3_1000G_AF=0.123203;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=17239;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.0089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232539219;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=18,3958;ESP6500_AA_GTC=0,18,1970;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=2.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=98;ESP6500_EA_AC=52,8272;ESP6500_EA_GTC=0,52,4110;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020808.3:missense;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232403473;ESP6500_GS=56;ESP6500_GTC=0,70,6080;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.4915G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020808.3:p.(G1639S);ESP6500_MAF=0.6247,0.4527,0.5691;ESP6500_PH=benign:0.09;ESP6500_TAC=70,12230	GT:AD:DP:GQ:PL	1/1:0,33:33:99:980,99,0
chr1	232403666	rs2275304	T	C	174.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275304;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|18/20|c.4817-95A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=682;p3_1000G_AF=0.136182;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=20575;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.0517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232539412;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:203,15,0
chr1	232404065	rs2275306	T	A	686.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275306;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|18/20|c.4816+60A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=681;p3_1000G_AF=0.135982;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=18999;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.0507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232539811;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=13,1371;ESP6500_AA_GTC=0,13,679;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=181,3001;ESP6500_EA_GTC=5,171,1415;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:intron;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232404065;ESP6500_GTC=5,184,2094;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.4816+60A>T;ESP6500_MAF=5.6882,0.9393,4.2488;ESP6500_TAC=194,4372	GT:AD:DP:GQ:PL	1/1:0,23:23:69:715,69,0
chr1	232415670	rs12569188	G	A	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.037;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.285;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12569188;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|16/20|c.4631-45C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1578;p3_1000G_AF=0.315096;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=22106;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.3827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232551416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=871,3453;ESP6500_AA_GTC=90,691,1381;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=3186,5332;ESP6500_EA_GTC=614,1958,1687;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:intron;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232415670;ESP6500_GTC=704,2649,3068;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.4631-45C>T;ESP6500_MAF=37.4031,20.1434,31.5917;ESP6500_TAC=4057,8785	GT:AD:DP:GQ:PL	0/1:12,9:21:99:256,0,326
chr1	232432200	rs3765572	C	T	404.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.77;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3765572;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|14/20|c.4256+47G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=571;p3_1000G_AF=0.114018;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=16908;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.0099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232567946;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=22,3684;ESP6500_AA_GTC=0,22,1831;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=17;ESP6500_EA_AC=97,8107;ESP6500_EA_GTC=1,95,4006;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:intron;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232432200;ESP6500_GTC=1,117,5837;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.4256+47G>A;ESP6500_MAF=1.1824,0.5936,0.9992;ESP6500_TAC=119,11791	GT:AD:DP:GQ:PL	1/1:0,11:11:33:433,33,0
chr1	232432547	rs1547741	A	G	490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1547741;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|13/20|c.4032-76T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4897;p3_1000G_AF=0.977835;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=19612;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232568293;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:519,42,0
chr1	232439175	rs2275307	T	C	1233.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=0.746;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275307;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|13/21|c.3964A>G|p.Thr1322Ala|4233/6599|3964/5169|1322/1722||;p3_1000G_AA=C|||;p3_1000G_AC=1764;p3_1000G_AF=0.352236;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=19452;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.2008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232574921;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1603,2551;ESP6500_AA_GTC=312,979,786;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=1823,6619;ESP6500_EA_GTC=204,1415,2602;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020808.3:missense;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232439175;ESP6500_GS=58;ESP6500_GTC=516,2394,3388;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.3964A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020808.3:p.(T1322A);ESP6500_MAF=21.5944,38.5893,27.1991;ESP6500_PH=benign:0.0;ESP6500_TAC=3426,9170	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1262,111,0
chr1	232441252	rs12036020	T	A	675.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12036020;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|12/20|c.3642+39A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1246;p3_1000G_AF=0.248802;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=19711;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.0308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232576998;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=599,3243;ESP6500_AA_GTC=42,515,1364;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=203;ESP6500_EA_AC=272,7964;ESP6500_EA_GTC=10,252,3856;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:intron;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232441252;ESP6500_GTC=52,767,5220;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.3642+39A>T;ESP6500_MAF=3.3026,15.5908,7.2115;ESP6500_TAC=871,11207	GT:AD:DP:GQ:PL	1/1:0,23:23:69:704,69,0
chr1	232445501	rs1409369	C	G	1258.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1409369;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|9/20|c.3353+28G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1931;p3_1000G_AF=0.385583;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=18753;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.2197;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232581247;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1436,2526;ESP6500_AA_GTC=259,918,804;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=32;ESP6500_EA_AC=1984,6356;ESP6500_EA_GTC=249,1486,2435;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:intron;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232445501;ESP6500_GTC=508,2404,3239;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.3353+28G>C;ESP6500_MAF=23.789,36.2443,27.8004;ESP6500_TAC=3420,8882	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1287,114,0
chr1	232465462	rs7536385	A	G	262.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7536385;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|6/20|c.2244-46T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1442;p3_1000G_AF=0.287939;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=19195;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.0398;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232601208;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=619,3307;ESP6500_AA_GTC=48,523,1392;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=24;ESP6500_EA_AC=268,8022;ESP6500_EA_GTC=8,252,3885;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:intron;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232465462;ESP6500_GTC=56,775,5277;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.2244-46T>C;ESP6500_MAF=3.2328,15.7667,7.261;ESP6500_TAC=887,11329	GT:AD:DP:GQ:PL	1/1:0,7:7:21:291,21,0
chr1	232471319	rs16857291	G	A	699.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16857291;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|6/20|c.2243+52C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=710;p3_1000G_AF=0.141773;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=18027;p3_1000G_EAS_AF=0.5506;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232607065;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=10,1742;ESP6500_AA_GTC=0,10,866;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=111;ESP6500_EA_AC=22,3960;ESP6500_EA_GTC=0,22,1969;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:intron;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232471319;ESP6500_GTC=0,32,2835;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.2243+52C>T;ESP6500_MAF=0.5525,0.5708,0.5581;ESP6500_TAC=32,5702	GT:AD:DP:GQ:PL	1/1:0,23:23:69:728,69,0
chr1	232515004	rs3795366	A	G	1597.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.89;SOR=0.736;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795366;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|1/21|c.336T>C|p.Ser112Ser|605/6599|336/5169|112/1722||;p3_1000G_AA=G|||;p3_1000G_AC=4182;p3_1000G_AF=0.835064;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=21353;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.9463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232650750;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8446;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4020,68;ESP6500_AA_GTC=1976,68,0;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=146;ESP6500_EA_AC=7837,577;ESP6500_EA_GTC=3644,549,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:coding-synonymous;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232515004;ESP6500_GTC=5620,617,14;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.336T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020808.3:p.(S112);ESP6500_MAF=6.8576,1.6634,5.1592;ESP6500_TAC=11857,645	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1626,0,1769
chr1	232515121	rs4649383	C	T	1324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.387;ClippingRankSum=0;DP=118;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.086;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4649383;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|SIPA1L2|SIPA1L2|transcript|NM_020808.4|protein_coding|1/21|c.219G>A|p.Lys73Lys|488/6599|219/5169|73/1722||;p3_1000G_AA=C|||;p3_1000G_AC=2782;p3_1000G_AF=0.555511;p3_1000G_AFR_AF=0.4569;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=19169;p3_1000G_EAS_AF=0.3333;p3_1000G_EUR_AF=0.7952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232650867;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1948,1900;ESP6500_AA_GTC=515,918,491;ESP6500_CDS_SIZES=NM_020808.3:5169;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=112;ESP6500_EA_AC=6614,1660;ESP6500_EA_GTC=2637,1340,160;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020808.3:coding-synonymous;ESP6500_GL=SIPA1L2;ESP6500_GRCh38_POSITION=1:232515121;ESP6500_GTC=3152,2258,651;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020808.3:c.219G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020808.3:p.(K73);ESP6500_MAF=20.0628,49.3763,29.3681;ESP6500_TAC=8562,3560	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1353,0,1931
chr1	232805407	rs12409898	C	T	1004.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12409898;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|MAP10|MAP10|transcript|NM_019090.2|protein_coding|1/1|c.384C>T|p.Phe128Phe|516/5455|384/3144|128/1047||;p3_1000G_AA=C|||;p3_1000G_AC=2641;p3_1000G_AF=0.527356;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=14834;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.7097;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232941153;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=728,3094;ESP6500_AA_GTC=76,576,1259;ESP6500_CDS_SIZES=NM_019090.2:3144;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=20;ESP6500_EA_AC=5672,2558;ESP6500_EA_GTC=1954,1764,397;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019090.2:coding-synonymous;ESP6500_GL=KIAA1383;ESP6500_GRCh38_POSITION=1:232805407;ESP6500_GTC=2030,2340,1656;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019090.2:c.384C>T;ESP6500_HGVS_PROTEIN_VAR=NM_019090.2:p.(F128);ESP6500_MAF=31.0814,19.0476,46.8968;ESP6500_TAC=6400,5652	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1033,84,0
chr1	232950710	rs13381	T	C	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=1.02;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13381;dbSNPBuildID=52;ANN=C|5_prime_UTR_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_032324.2|protein_coding|1/5|c.-1T>C|||||1|,C|5_prime_UTR_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_001329452.1|protein_coding|1/4|c.-1T>C|||||1|,C|5_prime_UTR_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_001329453.1|protein_coding|1/4|c.-1T>C|||||1|,C|upstream_gene_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138027.1|pseudogene||n.-132T>C|||||132|,C|non_coding_transcript_exon_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138024.1|pseudogene|1/4|n.180T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138025.1|pseudogene|1/3|n.180T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138026.1|pseudogene|1/4|n.180T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138028.1|pseudogene|1/3|n.180T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1138;p3_1000G_AF=0.227236;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=12286;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.1988;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233086456;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1441,2965;ESP6500_AA_AGE=655.5+/-399.9;ESP6500_AA_GTC=241,959,1003;ESP6500_CDS_SIZES=NM_032324.1:573;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=31;ESP6500_EA_AC=2070,6528;ESP6500_EA_AGE=691.9+/-404.5;ESP6500_EA_GTC=252,1566,2481;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032324.1:utr-5;ESP6500_GL=NTPCR;ESP6500_GRCh38_POSITION=1:232950710;ESP6500_GTC=493,2525,3484;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032324.1:c.-1T>C;ESP6500_MAF=24.0754,32.7054,26.9994;ESP6500_TAC=3511,9493	GT:AD:DP:GQ:PL	0/1:12,20:32:99:576,0,217
chr1	232955530	rs756129677	CT	C	76.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.792;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|splice_region_variant&intron_variant|LOW|NTPCR|NTPCR|transcript|NM_032324.2|protein_coding|1/4|c.35-8delT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|NTPCR|NTPCR|transcript|NM_001329452.1|protein_coding|1/3|c.35-8delT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|NTPCR|NTPCR|transcript|NM_001329453.1|protein_coding|1/3|c.35-8delT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|NTPCR|NTPCR|transcript|NR_138027.1|pseudogene|1/4|n.292-8delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138024.1|pseudogene|1/3|n.215-798delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138025.1|pseudogene|1/2|n.214+4805delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138026.1|pseudogene|1/3|n.215-798delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138028.1|pseudogene|1/2|n.215-798delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,6:7:0:111,0,0
chr1	232976205	rs1885004	G	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.674;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1885004;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_032324.2|protein_coding|4/4|c.505-1958G>A||||||,A|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_001329452.1|protein_coding|3/3|c.299-1958G>A||||||,A|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_001329453.1|protein_coding|3/3|c.295-1958G>A||||||,A|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138024.1|pseudogene|3/3|n.526-1958G>A||||||,A|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138025.1|pseudogene|2/2|n.425-1958G>A||||||,A|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138026.1|pseudogene|3/3|n.522-1958G>A||||||,A|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138028.1|pseudogene|2/2|n.312-1958G>A||||||,A|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138027.1|pseudogene|4/4|n.762-1958G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1169;p3_1000G_AF=0.233427;p3_1000G_AFR_AF=0.326;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=19918;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.2416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233111951;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:189,0,144
chr1	232978081	rs1045158	G	T	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.223;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.838;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1045158;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_032324.2|protein_coding|4/4|c.505-82G>T||||||,T|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_001329452.1|protein_coding|3/3|c.299-82G>T||||||,T|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NM_001329453.1|protein_coding|3/3|c.295-82G>T||||||,T|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138024.1|pseudogene|3/3|n.526-82G>T||||||,T|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138025.1|pseudogene|2/2|n.425-82G>T||||||,T|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138026.1|pseudogene|3/3|n.522-82G>T||||||,T|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138028.1|pseudogene|2/2|n.312-82G>T||||||,T|intron_variant|MODIFIER|NTPCR|NTPCR|transcript|NR_138027.1|pseudogene|4/4|n.762-82G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1049;p3_1000G_AF=0.209465;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18359;p3_1000G_EAS_AF=0.1756;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233113827;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,14:27:99:383,0,387
chr1	232986045	rs12038915	G	A	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.471;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.302;SOR=1.172;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12038915;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|33/33|c.6240+47C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=880;p3_1000G_AF=0.175719;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=15963;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.2008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233121791;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=864,3058;ESP6500_AA_GTC=109,646,1206;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=10;ESP6500_EA_AC=1735,6237;ESP6500_EA_GTC=228,1279,2479;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014801.3:intron;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:232986045;ESP6500_GTC=337,1925,3685;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.6240+47C>T;ESP6500_MAF=21.7637,22.0296,21.8514;ESP6500_TAC=2599,9295	GT:AD:DP:GQ:PL	0/1:18,11:29:99:295,0,525
chr1	232986381	rs41309639	C	T	467.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.326;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.111;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.048;SOR=0.876;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41309639;dbSNPBuildID=127;ANN=T|missense_variant|MODERATE|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|33/34|c.5951G>A|p.Arg1984Gln|6186/6817|5951/6414|1984/2137||;p3_1000G_AA=C|||;p3_1000G_AC=863;p3_1000G_AF=0.172324;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=15104;p3_1000G_EAS_AF=0.1667;p3_1000G_EUR_AF=0.2008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233122127;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=941,3155;ESP6500_AA_GTC=122,697,1229;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=23;ESP6500_EA_AC=1981,6397;ESP6500_EA_GTC=239,1503,2447;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014801.3:missense;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:232986381;ESP6500_GS=43;ESP6500_GTC=361,2200,3676;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.5951G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014801.3:p.(R1984Q);ESP6500_MAF=23.6453,22.9736,23.4247;ESP6500_PH=benign:0.013;ESP6500_TAC=2922,9552	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,21:50:99:1|0:232986374_G_A:496,0,854
chr1	232998340	rs56231757	C	T	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.192;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.742;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.554;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56231757;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|32/34|c.5702G>A|p.Ser1901Asn|5937/6817|5702/6414|1901/2137||;p3_1000G_AA=C|||;p3_1000G_AC=919;p3_1000G_AF=0.183506;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=18270;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.2147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233134086;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1011,3043;ESP6500_AA_GTC=106,799,1122;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=48;ESP6500_EA_AC=1921,6477;ESP6500_EA_GTC=222,1477,2500;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014801.3:missense;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:232998340;ESP6500_GS=46;ESP6500_GTC=328,2276,3622;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.5702G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014801.3:p.(S1901N);ESP6500_MAF=22.8745,24.9383,23.5464;ESP6500_PH=benign:0.004;ESP6500_TAC=2932,9520	GT:AD:DP:GQ:PL	0/1:20,18:38:99:445,0,518
chr1	233014524	rs6424263	T	C	388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6424263;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|28/33|c.4952+141A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2369;p3_1000G_AF=0.473043;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=20219;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233150270;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:417,30,0
chr1	233017164	rs11271054	A	AAAAGCAAGATTTTGAGTCCTCACAGCTATTCT	725.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.7;SOR=4.294;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59041465,rs11271054;dbSNPBuildID=135;ANN=AAAAGCAAGATTTTGAGTCCTCACAGCTATTCT|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|26/33|c.4606-11_4606-10insAGAATAGCTGTGAGGACTCAAAATCTTGCTTT||||||;p3_1000G_AC=2308;p3_1000G_AF=0.460863;p3_1000G_AFR_AF=0.6271;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=15137;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233152910;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:50:763,50,0
chr1	233160246	rs561944611;~rs78656857	CT	C	401.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.316;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.577;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.064;SOR=1.138;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|19/33|c.3517+36delA||||||;ESP6500_AA_AC=91,403,619,2369;ESP6500_AA_GTC=2,8,0,79,7,8,373,3,605,656;ESP6500_CDS_SIZES=NM_014801.3:6414,NM_014801.3:6414,NM_014801.3:6414;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=29;ESP6500_EA_AC=153,741,1563,5321;ESP6500_EA_GTC=9,17,3,115,5,13,701,8,1531,1487;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014801.3:intron,NM_014801.3:intron,NM_014801.3:intron;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:233160246;ESP6500_GTC=11,25,3,194,12,21,1074,11,2136,2143;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.3517+36del1,NM_014801.3:c.3517+36_3517+37insA,NM_014801.3:c.3517+36_3517+37insAAGG;ESP6500_MAF=31.5891,31.9644,31.7052;ESP6500_TAC=244,1144,2182,7690	GT:AD:DP:GQ:PL	0/1:24,24:48:99:439,0,552
chr1	233160653	rs35864442	A	AG	1155.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35864442;dbSNPBuildID=126;ANN=AG|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|18/33|c.3367-221_3367-220insC||||||;p3_1000G_AA=G|-|G|deletion;p3_1000G_AC=3415;p3_1000G_AF=0.681909;p3_1000G_AFR_AF=0.6104;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=20220;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.6958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233296399;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1193,90,0
chr1	233161162	rs2296516	T	G	344.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2296516;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|18/33|c.3366+109A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2827;p3_1000G_AF=0.564497;p3_1000G_AFR_AF=0.5666;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=20105;p3_1000G_EAS_AF=0.4117;p3_1000G_EUR_AF=0.6332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233296908;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:373,27,0
chr1	233227184	rs701176	G	A	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.211;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.23;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs701176;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|10/33|c.2504+42C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1701;p3_1000G_AF=0.339657;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=15046;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.2336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233362930;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=982,3182;ESP6500_AA_GTC=115,752,1215;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=95;ESP6500_EA_AC=1772,6674;ESP6500_EA_GTC=190,1392,2641;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014801.3:intron;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:233227184;ESP6500_GTC=305,2144,3856;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.2504+42C>T;ESP6500_MAF=20.9803,23.5831,21.8398;ESP6500_TAC=2754,9856	GT:AD:DP:GQ:PL	0/1:8,10:18:99:259,0,216
chr1	233261255	rs45467006	G	T	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.755;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.122;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45467006;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|4/33|c.517+30C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=82;p3_1000G_AF=0.0163738;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=17761;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.0189;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233397001;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=5,3615;ESP6500_AA_GTC=0,5,1805;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=93;ESP6500_EA_AC=100,8056;ESP6500_EA_GTC=0,100,3978;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014801.3:intron;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:233261255;ESP6500_GTC=0,105,5783;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.517+30C>A;ESP6500_MAF=1.2261,0.1381,0.8916;ESP6500_TAC=105,11671	GT:AD:DP:GQ:PL	0/1:15,11:26:99:241,0,328
chr1	233261352	rs45559931	G	C	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.571;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=1.45;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45559931;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|3/33|c.481-31C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=82;p3_1000G_AF=0.0163738;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=18302;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.0189;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233397098;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=8,3764;ESP6500_AA_GTC=0,8,1878;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=88;ESP6500_EA_AC=100,8118;ESP6500_EA_GTC=0,100,4009;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014801.3:intron;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:233261352;ESP6500_GTC=0,108,5887;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.481-31C>G;ESP6500_MAF=1.2168,0.2121,0.9008;ESP6500_TAC=108,11882	GT:AD:DP:GQ:PL	0/1:15,9:24:99:208,0,388
chr1	233262006	rs6701073	T	C	557.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.916;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.316;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.064;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6701073;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|3/33|c.480+39A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1389;p3_1000G_AF=0.277356;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=20827;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233397752;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=895,3095;ESP6500_AA_GTC=100,695,1200;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=122;ESP6500_EA_AC=2692,5648;ESP6500_EA_GTC=434,1824,1912;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014801.3:intron;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:233262006;ESP6500_GTC=534,2519,3112;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.480+39A>G;ESP6500_MAF=32.2782,22.4311,29.0916;ESP6500_TAC=3587,8743	GT:AD:DP:GQ:PL	0/1:16,21:37:99:586,0,415
chr1	233262163	rs78404265	T	C	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.791;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.863;SOR=1.286;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78404265;dbSNPBuildID=131;ANN=C|missense_variant&splice_region_variant|MODERATE|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|3/34|c.362A>G|p.Asn121Ser|597/6817|362/6414|121/2137||;p3_1000G_AA=T|||;p3_1000G_AC=82;p3_1000G_AF=0.0163738;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=20897;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.0189;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233397909;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=6,3888;ESP6500_AA_GTC=0,6,1941;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=186;ESP6500_EA_AC=100,8180;ESP6500_EA_GTC=0,100,4040;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014801.3:missense;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:233262163;ESP6500_GS=46;ESP6500_GTC=0,106,5981;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.362A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014801.3:p.(N121S);ESP6500_MAF=1.2077,0.1541,0.8707;ESP6500_PH=benign:0.002;ESP6500_TAC=106,12068	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,19:45:99:0|1:233262156_C_T:554,0,622
chr1	233262924	rs12132556	C	A	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.143;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=-0.483;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12132556;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|2/33|c.359+34G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1388;p3_1000G_AF=0.277157;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=18271;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233398670;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=775,2833;ESP6500_AA_GTC=97,581,1126;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=119;ESP6500_EA_AC=2544,5600;ESP6500_EA_GTC=432,1680,1960;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014801.3:intron;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:233262924;ESP6500_GTC=529,2261,3086;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.359+34G>T;ESP6500_MAF=31.2377,21.48,28.242;ESP6500_TAC=3319,8433	GT:AD:DP:GQ:PL	0/1:15,9:24:99:199,0,372
chr1	233262967	rs1033325	C	T	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.398;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.568;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1033325;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|2/34|c.350G>A|p.Arg117Lys|585/6817|350/6414|117/2137||;p3_1000G_AA=T|||;p3_1000G_AC=1387;p3_1000G_AF=0.276957;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=17451;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233398713;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=843,2805;ESP6500_AA_GTC=98,647,1079;ESP6500_CDS_SIZES=NM_014801.3:6414;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=193;ESP6500_EA_AC=2655,5511;ESP6500_EA_GTC=432,1791,1860;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014801.3:missense;ESP6500_GL=PCNXL2;ESP6500_GRCh38_POSITION=1:233262967;ESP6500_GS=26;ESP6500_GTC=530,2438,2939;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014801.3:c.350G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014801.3:p.(R117K);ESP6500_MAF=32.5129,23.1086,29.6089;ESP6500_PH=benign:0.0;ESP6500_TAC=3498,8316	GT:AD:DP:GQ:PL	0/1:15,16:31:99:380,0,403
chr1	233263181	rs1033324	C	G	59.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.958;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.6;ReadPosRankSum=0.675;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1033324;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PCNX2|PCNX2|transcript|NM_014801.3|protein_coding|1/33|c.154-18G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1390;p3_1000G_AF=0.277556;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=15536;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233398927;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,3:13:88:88,0,304
chr1	233328039	rs78916182	G	C	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.623;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=-0.842;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78916182;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|MLK4|MLK4|transcript|NM_032435.2|protein_coding|1/10|c.11G>C|p.Arg4Pro|272/5809|11/3111|4/1036||;p3_1000G_AA=C|||;p3_1000G_AC=505;p3_1000G_AF=0.100839;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=7559;p3_1000G_EAS_AF=0.0665;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233463785;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:60:0|1:233328039_G_C:60,0,215
chr1	233328064	rs199635611	C	G	20.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-1.068;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199635611;dbSNPBuildID=137;ANN=G|synonymous_variant|LOW|MLK4|MLK4|transcript|NM_032435.2|protein_coding|1/10|c.36C>G|p.Thr12Thr|297/5809|36/3111|12/1036||;p3_1000G_AA=C|||;p3_1000G_AC=121;p3_1000G_AF=0.0241613;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=8001;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233463810;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,2:7:49:0|1:233328039_G_C:49,0,237
chr1	233328190	rs189326455	G	C	84.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.524;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189326455;dbSNPBuildID=135;ANN=C|missense_variant|MODERATE|MLK4|MLK4|transcript|NM_032435.2|protein_coding|1/10|c.162G>C|p.Glu54Asp|423/5809|162/3111|54/1036||;p3_1000G_AA=G|||;p3_1000G_AC=121;p3_1000G_AF=0.0241613;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=8345;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233463936;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:26:113,0,26
chr1	233328799	rs79952117	G	C	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.746;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.598;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79952117;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|MLK4|MLK4|transcript|NM_032435.2|protein_coding|1/10|c.771G>C|p.Val257Val|1032/5809|771/3111|257/1036||;p3_1000G_AA=G|||;p3_1000G_AC=121;p3_1000G_AF=0.0241613;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=12914;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233464545;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3,3883;ESP6500_AA_GTC=0,3,1940;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=10;ESP6500_EA_AC=0,7742;ESP6500_EA_GTC=0,0,3871;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032435.2:coding-synonymous;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233328799;ESP6500_GTC=0,3,5811;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.771G>C;ESP6500_HGVS_PROTEIN_VAR=NM_032435.2:p.(V257);ESP6500_MAF=0.0,0.0772,0.0258;ESP6500_TAC=3,11625	GT:AD:DP:GQ:PL	0/1:15,11:26:99:284,0,424
chr1	233353753	rs7539016	A	G	391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.91;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=0.309;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7539016;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MLK4|MLK4|transcript|NM_032435.2|protein_coding|2/9|c.987-54A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=19414;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233489499;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,14:23:99:420,0,247
chr1	233353783	rs7549137	G	A	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.843;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=4.494;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.582;SOR=0.172;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7549137;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MLK4|MLK4|transcript|NM_032435.2|protein_coding|2/9|c.987-24G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=19229;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.4095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233489529;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2167,2239;ESP6500_AA_AGE=593.8+/-388.1;ESP6500_AA_GTC=532,1103,568;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=74;ESP6500_EA_AC=3289,5311;ESP6500_EA_AGE=647.2+/-400.4;ESP6500_EA_GTC=624,2041,1635;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032435.2:intron;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233353783;ESP6500_GTC=1156,3144,2203;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.987-24G>A;ESP6500_MAF=38.2442,49.1829,41.9499;ESP6500_TAC=5456,7550	GT:AD:DP:GQ:PL	0/1:12,16:28:99:476,0,410
chr1	233353961	rs7551511	G	T	534.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.636;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.288;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7551511;dbSNPBuildID=116;ANN=T|splice_region_variant&intron_variant|LOW|MLK4|MLK4|transcript|NM_032435.2|protein_coding|3/9|c.1135+6G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=19444;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.4095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233489707;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2161,2245;ESP6500_AA_AGE=581.3+/-385.3;ESP6500_AA_GTC=532,1097,574;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=100;ESP6500_EA_AC=3283,5317;ESP6500_EA_AGE=640.1+/-399.5;ESP6500_EA_GTC=624,2035,1641;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032435.2:intron;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233353961;ESP6500_GTC=1156,3132,2215;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.1135+6G>T;ESP6500_MAF=38.1744,49.0468,41.8576;ESP6500_TAC=5444,7562	GT:AD:DP:GQ:PL	0/1:21,20:41:99:563,0,599
chr1	233354790	rs137943316;~rs6143674	A	AATGTCTTGGGGATAATCTG	274.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.137;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=-1.49;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs137943316;dbSNPBuildID=134;ANN=AATGTCTTGGGGATAATCTG|intron_variant|MODIFIER|MLK4|MLK4|transcript|NM_032435.2|protein_coding|3/9|c.1136-45_1136-44insTGTCTTGGGGATAATCTGA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2204;p3_1000G_AF=0.440096;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=21055;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.3221;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233490536;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=INDEL;ESP6500_AA_AC=117,1905,2244;ESP6500_AA_GTC=37,1,42,454,996,603;ESP6500_CDS_SIZES=NM_032435.2:3111,NM_032435.2:3111;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=54;ESP6500_EA_AC=215,2805,5218;ESP6500_EA_GTC=44,0,127,510,1785,1653;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032435.2:intron,NM_032435.2:intron;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233354790;ESP6500_GTC=81,1,169,964,2781,2256;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.1136-46_1136-45insATGTCTTGGGGATAATCTG,NM_032435.2:c.1136-46_1136-45insATGTCTTGGGGGTAATCTG;ESP6500_MAF=36.6594,47.398,40.3231;ESP6500_TAC=332,4710,7462	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,7:15:99:0|1:233354790_A_AATGTCTTGGGGATAATCTG:312,0,1899
chr1	233354797	rs2049182	G	A	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.853;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-1.672;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2049182;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|MLK4|MLK4|transcript|NM_032435.2|protein_coding|3/9|c.1136-39G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2559;p3_1000G_AF=0.510982;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=17863;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233490543;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2136,2270;ESP6500_AA_AGE=564.4+/-381.4;ESP6500_AA_GTC=535,1066,602;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=67;ESP6500_EA_AC=3202,5396;ESP6500_EA_AGE=458.2+/-364.5;ESP6500_EA_GTC=617,1968,1714;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032435.2:intron;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233354797;ESP6500_GTC=1152,3034,2316;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.1136-39G>A;ESP6500_MAF=37.2412,48.4793,41.0489;ESP6500_TAC=5338,7666	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,6:14:99:0|1:233354790_A_AATGTCTTGGGGATAATCTG:228,0,1905
chr1	233355018	rs4649219	G	T	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.95;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.727;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4649219;dbSNPBuildID=111;ANN=T|splice_region_variant&intron_variant|LOW|MLK4|MLK4|transcript|NM_032435.2|protein_coding|4/9|c.1311+7G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1663;p3_1000G_AF=0.332069;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=18807;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.2396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233490764;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1506,2900;ESP6500_AA_AGE=462.3+/-353.2;ESP6500_AA_GTC=260,986,957;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=43;ESP6500_EA_AC=1959,6641;ESP6500_EA_AGE=334.9+/-321.2;ESP6500_EA_GTC=215,1529,2556;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032435.2:intron;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233355018;ESP6500_GTC=475,2515,3513;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.1311+7G>T;ESP6500_MAF=22.7791,34.1807,26.6416;ESP6500_TAC=3465,9541	GT:AD:DP:GQ:PL	0/1:11,7:18:99:217,0,369
chr1	233355030	rs4649220	C	T	422.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4649220;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MLK4|MLK4|transcript|NM_032435.2|protein_coding|4/9|c.1311+19C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1787;p3_1000G_AF=0.356829;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=18911;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.2425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233490776;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1503,2903;ESP6500_AA_AGE=655.7+/-399.9;ESP6500_AA_GTC=260,983,960;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=36;ESP6500_EA_AC=1959,6641;ESP6500_EA_AGE=709.6+/-405.7;ESP6500_EA_GTC=217,1525,2558;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032435.2:intron;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233355030;ESP6500_GTC=477,2508,3518;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.1311+19C>T;ESP6500_MAF=22.7791,34.1126,26.6185;ESP6500_TAC=3462,9544	GT:AD:DP:GQ:PL	1/1:0,13:13:39:451,39,0
chr1	233376616	rs10489691	A	G	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.3;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=1.21;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10489691;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|MLK4|MLK4|transcript|NM_032435.2|protein_coding|8/9|c.1924+89A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1064;p3_1000G_AF=0.21246;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=18739;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233512362;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:329,0,243
chr1	233379188	rs3795375	G	A	848.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.439;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.371;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795375;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|MLK4|MLK4|transcript|NM_032435.2|protein_coding|9/10|c.2182G>A|p.Val728Ile|2443/5809|2182/3111|728/1036||;p3_1000G_AA=G|||;p3_1000G_AC=1308;p3_1000G_AF=0.261182;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.3415;p3_1000G_AN=5008;p3_1000G_DP=18088;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.172;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233514934;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=793,3613;ESP6500_AA_AGE=320.4+/-296.6;ESP6500_AA_GTC=64,665,1474;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=1573,7027;ESP6500_EA_AGE=293.9+/-301.6;ESP6500_EA_GTC=147,1279,2874;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032435.2:missense;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233379188;ESP6500_GS=29;ESP6500_GTC=211,1944,4348;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.2182G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032435.2:p.(V728I);ESP6500_MAF=18.2907,17.9982,18.1916;ESP6500_PH=possibly-damaging:0.901;ESP6500_TAC=2366,10640	GT:AD:DP:GQ:PL	0/1:23,37:60:99:877,0,650
chr1	233379229	rs3795374	G	T	876.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.928;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=2.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.367;SOR=0.886;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795374;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|MLK4|MLK4|transcript|NM_032435.2|protein_coding|9/10|c.2223G>T|p.Glu741Asp|2484/5809|2223/3111|741/1036||;p3_1000G_AA=G|||;p3_1000G_AC=1385;p3_1000G_AF=0.276558;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=19126;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233514975;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=996,3410;ESP6500_AA_AGE=372.7+/-320.5;ESP6500_AA_GTC=105,786,1312;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=1.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=73;ESP6500_EA_AC=1571,7029;ESP6500_EA_AGE=294.2+/-301.7;ESP6500_EA_GTC=146,1279,2875;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032435.2:missense;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233379229;ESP6500_GS=45;ESP6500_GTC=251,2065,4187;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.2223G>T;ESP6500_HGVS_PROTEIN_VAR=NM_032435.2:p.(E741D);ESP6500_MAF=18.2674,22.6055,19.737;ESP6500_PH=probably-damaging:0.997;ESP6500_TAC=2567,10439	GT:AD:DP:GQ:PL	0/1:25,34:59:99:905,0,733
chr1	233379325	rs963982	C	T	764.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.177;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=7.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.983;SOR=1.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs963982;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|MLK4|MLK4|transcript|NM_032435.2|protein_coding|9/10|c.2319C>T|p.Ser773Ser|2580/5809|2319/3111|773/1036||;p3_1000G_AA=C|||;p3_1000G_AC=1386;p3_1000G_AF=0.276757;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=17877;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233515071;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=994,3412;ESP6500_AA_AGE=371.5+/-320.0;ESP6500_AA_GTC=105,784,1314;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=62;ESP6500_EA_AC=1572,7028;ESP6500_EA_AGE=293.9+/-301.6;ESP6500_EA_GTC=147,1278,2875;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032435.2:coding-synonymous;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233379325;ESP6500_GTC=252,2062,4189;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.2319C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032435.2:p.(S773);ESP6500_MAF=18.2791,22.5601,19.7294;ESP6500_TAC=2566,10440	GT:AD:DP:GQ:PL	0/1:25,30:55:99:793,0,709
chr1	233379356	rs963981	T	G	928.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=3.459;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.052;SOR=1.172;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs963981;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|MLK4|MLK4|transcript|NM_032435.2|protein_coding|9/10|c.2350T>G|p.Cys784Gly|2611/5809|2350/3111|784/1036||;p3_1000G_AA=G|||;p3_1000G_AC=1384;p3_1000G_AF=0.276358;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=17780;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233515102;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=995,3411;ESP6500_AA_AGE=729.8+/-410.1;ESP6500_AA_GTC=105,785,1313;ESP6500_CDS_SIZES=NM_032435.2:3111;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=55;ESP6500_EA_AC=1571,7029;ESP6500_EA_AGE=743.5+/-407.2;ESP6500_EA_GTC=147,1277,2876;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032435.2:missense;ESP6500_GL=KIAA1804;ESP6500_GRCh38_POSITION=1:233379356;ESP6500_GS=159;ESP6500_GTC=252,2062,4189;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_032435.2:c.2350T>G;ESP6500_HGVS_PROTEIN_VAR=NM_032435.2:p.(C784G);ESP6500_MAF=18.2674,22.5828,19.7294;ESP6500_PH=benign:0.0;ESP6500_TAC=2566,10440	GT:AD:DP:GQ:PL	0/1:30,33:63:99:957,0,831
chr1	233614109	rs2795294	A	G	182.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.03;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2795294;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|KCNK1|KCNK1|transcript|NM_002245.3|protein_coding|1/3|c.-63A>G|||||63|;p3_1000G_AA=G|||;p3_1000G_AC=3383;p3_1000G_AF=0.675519;p3_1000G_AFR_AF=0.6914;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=3367;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233749855;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:211,15,0
chr1	233614150	rs140745317;rs3831930;~rs72009233	C	CTTGGCTTTGGCT	475.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.79;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs140745317;dbSNPBuildID=134;ANN=CTTGGCTTTGGCT|5_prime_UTR_variant|MODIFIER|KCNK1|KCNK1|transcript|NM_002245.3|protein_coding|1/3|c.-17_-16insTTTGGCTTTGGC|||||16|INFO_REALIGN_3_PRIME;p3_1000G_AC=1439;p3_1000G_AF=0.28734;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=5658;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.1899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233749896;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=3125,841;ESP6500_AA_GTC=1359,407,217;ESP6500_CDS_SIZES=NM_002245.3:1011;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=6;ESP6500_EA_AC=3107,4875;ESP6500_EA_GTC=749,1609,1633;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002245.3:utr-5;ESP6500_GL=KCNK1;ESP6500_GRCh38_POSITION=1:233614150;ESP6500_GTC=2108,2016,1850;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002245.3:c.-22_-21insTTGGCTTTGGCT;ESP6500_MAF=38.9251,21.2052,47.8406;ESP6500_TAC=6232,5716	GT:AD:DP:GQ:PL	1/1:0,10:10:38:513,38,0
chr1	233650040	rs4649241	A	C	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.014;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.548;SOR=1.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4649241;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|KCNK1|KCNK1|transcript|NM_002245.3|protein_coding|1/2|c.356-16555A>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=2683;p3_1000G_AF=0.535743;p3_1000G_AFR_AF=0.5809;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=20349;p3_1000G_EAS_AF=0.5704;p3_1000G_EUR_AF=0.4085;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233785786;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=974,778;ESP6500_AA_GTC=266,442,168;ESP6500_CDS_SIZES=NM_002245.3:1011;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=70;ESP6500_EA_AC=1696,2286;ESP6500_EA_GTC=364,968,659;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002245.3:intron;ESP6500_GL=KCNK1;ESP6500_GRCh38_POSITION=1:233650040;ESP6500_GTC=630,1410,827;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002245.3:c.356-16555A>C;ESP6500_MAF=42.5917,44.4064,46.5644;ESP6500_TAC=2670,3064	GT:AD:DP:GQ:PL	0/1:26,18:44:99:412,0,687
chr1	234322922	rs35870005	G	A	564.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35870005;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|SLC35F3|SLC35F3|transcript|NM_173508.3|protein_coding|7/7|c.1238-86G>A||||||,A|intron_variant|MODIFIER|SLC35F3|SLC35F3|transcript|NM_001300845.1|protein_coding|6/6|c.1031-86G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1932;p3_1000G_AF=0.385783;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=16179;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.329;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234458668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:593,51,0
chr1	234373513	rs10910420;380009	G	C	1054.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10910420;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|COA6|COA6|transcript|NM_001206641.2|protein_coding|1/3|c.47G>C|p.Ser16Thr|77/729|47/468|16/155||,C|upstream_gene_variant|MODIFIER|LOC101927765|LOC101927765|transcript|NR_125962.1|pseudogene||n.-110C>G|||||110|,C|upstream_gene_variant|MODIFIER|COA6|COA6|transcript|NM_001012985.2|protein_coding||c.-206G>C|||||170|,C|upstream_gene_variant|MODIFIER|COA6|COA6|transcript|NM_001301733.1|protein_coding||c.-733G>C|||||188|,C|non_coding_transcript_exon_variant|MODIFIER|LOC101927765|LOC101927765|transcript|NR_125961.1|pseudogene|1/2|n.81C>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3037;p3_1000G_AF=0.60643;p3_1000G_AFR_AF=0.8865;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=15662;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234509259;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;CLINVAR_ALLELEID=364957;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.234373513G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COA6:388753|LOC101927765:101927765;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10910420	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1083,99,0
chr1	234383639	rs10797539	T	C	139.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10797539;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|COA6|COA6|transcript|NM_001206641.2|protein_coding|2/2|c.373-84T>C||||||,C|intron_variant|MODIFIER|COA6|COA6|transcript|NM_001012985.2|protein_coding|2/2|c.283-84T>C||||||,C|intron_variant|MODIFIER|COA6|COA6|transcript|NM_001301733.1|protein_coding|1/1|c.145-84T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=15025;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.3648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234519385;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:167,12,0
chr1	234383706	rs58896934;419305	C	CT	248.52	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.393;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=20.71;ReadPosRankSum=-0.291;SOR=0.477;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs58896934;dbSNPBuildID=137;ANN=CT|splice_region_variant&intron_variant|LOW|COA6|COA6|transcript|NM_001206641.2|protein_coding|2/2|c.373-8dupT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|COA6|COA6|transcript|NM_001012985.2|protein_coding|2/2|c.283-8dupT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|COA6|COA6|transcript|NM_001301733.1|protein_coding|1/1|c.145-8dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2961;p3_1000G_AF=0.591254;p3_1000G_AFR_AF=0.8464;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=15058;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.492;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234519452;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=405083;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.234383707dupT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_GENEINFO=COA6:388753;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=58896934	GT:AD:DP:GQ:PL	1/1:1,11:12:7:285,7,0
chr1	234391829	rs3862040	C	T	292.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3862040;dbSNPBuildID=108;ANN=T|sequence_feature|LOW|TARBP1|TARBP1|binding-site:S-adenosyl-L-methionine|NM_005646.3|protein_coding|29/29|c.4698-84G>A||||||,T|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|29/29|c.4698-84G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2544;p3_1000G_AF=0.507987;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=18340;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.4334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234527575;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:321,27,0
chr1	234392627	rs7523423	C	T	263.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7523423;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|28/29|c.4561-75G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2544;p3_1000G_AF=0.507987;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=16614;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.4334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234528373;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:292,27,0
chr1	234393806	rs2175594	C	T	1360.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2175594;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|27/30|c.4275G>A|p.Ala1425Ala|4275/5130|4275/4866|1425/1621||;p3_1000G_AA=C|||;p3_1000G_AC=2554;p3_1000G_AF=0.509984;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=17424;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.4384;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234529552;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2594,1812;ESP6500_AA_AGE=636.1+/-396.5;ESP6500_AA_GTC=786,1022,395;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=81;ESP6500_EA_AC=3737,4863;ESP6500_EA_AGE=530.8+/-381.9;ESP6500_EA_GTC=806,2125,1369;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005646.3:coding-synonymous;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234393806;ESP6500_GTC=1592,3147,1764;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.4275G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005646.3:p.(A1425);ESP6500_MAF=43.4535,41.1257,48.6775;ESP6500_TAC=6331,6675	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:96:1|1:234393806_C_T:1389,96,0
chr1	234393824	rs2175593	G	A	1265.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.79;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2175593;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|27/30|c.4257C>T|p.Val1419Val|4257/5130|4257/4866|1419/1621||;p3_1000G_AA=G|||;p3_1000G_AC=2524;p3_1000G_AF=0.503994;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=17325;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.4334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234529570;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2501,1905;ESP6500_AA_AGE=621.0+/-393.7;ESP6500_AA_GTC=735,1031,437;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=64;ESP6500_EA_AC=3675,4925;ESP6500_EA_AGE=524.7+/-380.6;ESP6500_EA_GTC=779,2117,1404;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005646.3:coding-synonymous;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234393824;ESP6500_GTC=1514,3148,1841;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.4257C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005646.3:p.(V1419);ESP6500_MAF=42.7326,43.2365,47.4858;ESP6500_TAC=6176,6830	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,29:29:87:1|1:234393806_C_T:1294,87,0
chr1	234405876	rs2271444	G	T	1031.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271444;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|24/29|c.3989+27C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1158;p3_1000G_AF=0.23123;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=19096;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234541622;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=614,3792;ESP6500_AA_AGE=266.5+/-267.3;ESP6500_AA_GTC=52,510,1641;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=1923,6677;ESP6500_EA_AGE=337.1+/-322.1;ESP6500_EA_GTC=226,1471,2603;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005646.3:intron;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234405876;ESP6500_GTC=278,1981,4244;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.3989+27C>A;ESP6500_MAF=22.3605,13.9355,19.5064;ESP6500_TAC=2537,10469	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1060,96,0
chr1	234410499	rs1141264	C	T	1073.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.26;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1141264;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|23/30|c.3738G>A|p.Thr1246Thr|3738/5130|3738/4866|1246/1621||;p3_1000G_AA=T|||;p3_1000G_AC=1688;p3_1000G_AF=0.337061;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=18371;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.3907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234546245;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1057,3343;ESP6500_AA_AGE=692.5+/-405.5;ESP6500_AA_GTC=132,793,1275;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=-0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=55;ESP6500_EA_AC=3311,5281;ESP6500_EA_AGE=633.0+/-398.7;ESP6500_EA_GTC=618,2075,1603;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005646.3:coding-synonymous;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234410499;ESP6500_GTC=750,2868,2878;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.3738G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005646.3:p.(T1246);ESP6500_MAF=38.5358,24.0227,33.6207;ESP6500_TAC=4368,8624	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1102,114,0
chr1	234420884	rs6661926	C	T	179.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.69;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6661926;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|20/29|c.3445-72G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1364;p3_1000G_AF=0.272364;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=14327;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.2485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234556630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:208,21,0
chr1	234420900	rs6669819	T	A	139.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6669819;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|20/29|c.3445-88A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1363;p3_1000G_AF=0.272165;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=14397;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.2485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234556646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:168,15,0
chr1	234425844	rs4920240	T	A	202.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.97;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4920240;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|19/29|c.3324-51A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1416;p3_1000G_AF=0.282748;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=16710;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.2008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234561590;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1042,3258;ESP6500_AA_GTC=137,768,1245;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=17;ESP6500_EA_AC=1655,6873;ESP6500_EA_GTC=187,1281,2796;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005646.3:intron;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234425844;ESP6500_GTC=324,2049,4041;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.3324-51A>T;ESP6500_MAF=19.4067,24.2326,21.0243;ESP6500_TAC=2697,10131	GT:AD:DP:GQ:PL	1/1:0,7:7:21:231,21,0
chr1	234446905	rs4920246	T	C	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.355;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.323;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.811;SOR=0.845;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4920246;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|12/30|c.2032A>G|p.Ser678Gly|2032/5130|2032/4866|678/1621||;p3_1000G_AA=C|||;p3_1000G_AC=1518;p3_1000G_AF=0.303115;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=13837;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.2932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234582651;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1452,2954;ESP6500_AA_AGE=681.9+/-404.1;ESP6500_AA_GTC=242,968,993;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=168;ESP6500_EA_AC=2344,6256;ESP6500_EA_AGE=703.8+/-405.4;ESP6500_EA_GTC=305,1734,2261;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005646.3:missense;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234446905;ESP6500_GS=56;ESP6500_GTC=547,2702,3254;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.2032A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005646.3:p.(S678G);ESP6500_MAF=27.2558,32.9551,29.1865;ESP6500_PH=benign:0.0;ESP6500_TAC=3796,9210	GT:AD:DP:GQ:PL	0/1:28,25:53:99:535,0,638
chr1	234448485	rs2102596	C	T	314.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.088;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=4.901;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.159;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2102596;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|11/30|c.1956G>A|p.Gln652Gln|1956/5130|1956/4866|652/1621||;p3_1000G_AA=T|||;p3_1000G_AC=1438;p3_1000G_AF=0.287141;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=17667;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.2893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234584231;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1255,3151;ESP6500_AA_AGE=703.5+/-407.0;ESP6500_AA_GTC=181,893,1129;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=88;ESP6500_EA_AC=2315,6285;ESP6500_EA_AGE=705.4+/-405.5;ESP6500_EA_GTC=302,1711,2287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005646.3:coding-synonymous;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234448485;ESP6500_GTC=483,2604,3416;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.1956G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005646.3:p.(Q652);ESP6500_MAF=26.9186,28.4839,27.4489;ESP6500_TAC=3570,9436	GT:AD:DP:GQ:PL	0/1:22,16:38:99:343,0,507
chr1	234459201	rs12402937	T	C	394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=-1.374;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12402937;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|8/29|c.1632+29A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=899;p3_1000G_AF=0.179513;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=18578;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234594947;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=514,3892;ESP6500_AA_AGE=233.0+/-246.3;ESP6500_AA_GTC=32,450,1721;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=52;ESP6500_EA_AC=744,7856;ESP6500_EA_AGE=178.3+/-227.7;ESP6500_EA_GTC=36,672,3592;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005646.3:intron;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234459201;ESP6500_GTC=68,1122,5313;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.1632+29A>G;ESP6500_MAF=8.6512,11.6659,9.6725;ESP6500_TAC=1258,11748	GT:AD:DP:GQ:PL	0/1:9,15:24:99:423,0,186
chr1	234460456	rs270511	T	A	162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=1.11;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs270511;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|6/29|c.1400-60A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1747;p3_1000G_AF=0.348842;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=22091;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234596202;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:191,0,188
chr1	234471252	rs3754307	A	G	308.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.07;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3754307;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|3/30|c.1035T>C|p.His345His|1035/5130|1035/4866|345/1621||;p3_1000G_AA=A|||;p3_1000G_AC=1472;p3_1000G_AF=0.29393;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=18483;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234606998;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=497,3905;ESP6500_AA_AGE=217.8+/-236.0;ESP6500_AA_GTC=35,427,1739;ESP6500_CDS_SIZES=NM_005646.3:4866;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=51;ESP6500_EA_AC=391,8187;ESP6500_EA_AGE=123.8+/-182.6;ESP6500_EA_GTC=7,377,3905;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005646.3:coding-synonymous;ESP6500_GL=TARBP1;ESP6500_GRCh38_POSITION=1:234471252;ESP6500_GTC=42,804,5644;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005646.3:c.1035T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005646.3:p.(H345);ESP6500_MAF=4.5582,11.2903,6.8413;ESP6500_TAC=888,12092	GT:AD:DP:GQ:PL	1/1:0,11:11:33:337,33,0
chr1	234472580	rs271775	C	A	129.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs271775;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|2/29|c.1029+134G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3616;p3_1000G_AF=0.722045;p3_1000G_AFR_AF=0.7859;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=15833;p3_1000G_EAS_AF=0.9226;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234608326;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:157,12,0
chr1	234478644	rs117698521	G	C	334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.9;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs117698521;dbSNPBuildID=132;ANN=C|missense_variant|MODERATE|TARBP1|TARBP1|transcript|NM_005646.3|protein_coding|1/30|c.460C>G|p.Arg154Gly|460/5130|460/4866|154/1621||;p3_1000G_AA=G|||;p3_1000G_AC=1528;p3_1000G_AF=0.305112;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=4809;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.0666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234614390;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:363,36,0
chr1	234818087	rs822832	A	C	89.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.34;QD=29.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200007946;dbSNPBuildID=86;ANN=C|intergenic_region|MODIFIER|LINC01132-LOC101927851|LINC01132-LOC101927851|intergenic_region|LINC01132-LOC101927851|||n.234818087A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3420;p3_1000G_AF=0.682907;p3_1000G_AFR_AF=0.4894;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200007946;p3_1000G_DP=10156;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.8022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234953834;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:117,9,0
chr1	235122425	rs4659823	C	T	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.603;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.039;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.27;ReadPosRankSum=3.01;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4659823;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TOMM20|TOMM20|transcript|NM_014765.2|protein_coding|1/4|c.122-53G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1405;p3_1000G_AF=0.280551;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=17423;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235285740;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=93,1291;ESP6500_AA_GTC=2,89,601;ESP6500_CDS_SIZES=NM_014765.2:438;ESP6500_CG=-2.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=22;ESP6500_EA_AC=961,2215;ESP6500_EA_GTC=129,703,756;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014765.2:intron;ESP6500_GL=TOMM20;ESP6500_GRCh38_POSITION=1:235122425;ESP6500_GTC=131,792,1357;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014765.2:c.122-53G>A;ESP6500_MAF=30.2582,6.7197,23.114;ESP6500_TAC=1054,3506	GT:AD:DP:GQ:PL	0/1:2,16:18:32:393,0,32
chr1	235193988	rs34768226	A	ATG	334.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.23;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.43;ReadPosRankSum=-0.447;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34768226;dbSNPBuildID=126;ANN=ATG|upstream_gene_variant|MODIFIER|MIR4753|MIR4753|transcript|NR_039908.1|pseudogene||n.-3873_-3872insCA|||||3873|,ATG|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_001206794.1|protein_coding|19/23|c.2125+24_2125+25insCA||||||,ATG|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_016374.5|protein_coding|19/23|c.2125+24_2125+25insCA||||||,ATG|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_031371.3|protein_coding|18/22|c.1867+24_1867+25insCA||||||,ATG|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NR_135074.1|pseudogene|19/24|n.2625+24_2625+25insCA||||||;p3_1000G_AC=2227;p3_1000G_AF=0.444688;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=17911;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.4742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235357303;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=INDEL;ESP6500_AA_AC=1912,2352;ESP6500_AA_GTC=422,1068,642;ESP6500_CDS_SIZES=NM_031371.3:3681,NM_016374.5:3939,NM_001206794.1:3939;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=72;ESP6500_EA_AC=3743,4509;ESP6500_EA_GTC=851,2041,1234;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031371.3:intron,NM_016374.5:intron,NM_001206794.1:intron;ESP6500_GL=ARID4B;ESP6500_GRCh38_POSITION=1:235193988;ESP6500_GTC=1273,3109,1876;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_031371.3:c.1867+24_1867+25insCA,NM_016374.5:c.2125+24_2125+25insCA,NM_001206794.1:c.2125+24_2125+25insCA;ESP6500_MAF=45.3587,44.8405,45.1822;ESP6500_TAC=5655,6861	GT:AD:DP:GQ:PL	0/1:2,9:11:68:372,0,68
chr1	235193999	rs35180803	AT	A	266.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.447;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=-0.875;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35180803;dbSNPBuildID=126;ANN=A|upstream_gene_variant|MODIFIER|MIR4753|MIR4753|transcript|NR_039908.1|pseudogene||n.-3884delA|||||3884|,A|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_001206794.1|protein_coding|19/23|c.2125+13delA||||||,A|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_016374.5|protein_coding|19/23|c.2125+13delA||||||,A|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_031371.3|protein_coding|18/22|c.1867+13delA||||||,A|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NR_135074.1|pseudogene|19/24|n.2625+13delA||||||;ESP6500_AA_AC=297,3969;ESP6500_AA_GTC=16,265,1852;ESP6500_CDS_SIZES=NM_031371.3:3681,NM_016374.5:3939,NM_001206794.1:3939;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=103;ESP6500_EA_AC=2767,5487;ESP6500_EA_GTC=459,1849,1819;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031371.3:intron,NM_016374.5:intron,NM_001206794.1:intron;ESP6500_GL=ARID4B;ESP6500_GRCh38_POSITION=1:235193999;ESP6500_GTC=475,2114,3671;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_031371.3:c.1867+13del1,NM_016374.5:c.2125+13del1,NM_001206794.1:c.2125+13del1;ESP6500_MAF=33.5231,6.962,24.4728;ESP6500_TAC=3064,9456	GT:AD:DP:GQ:PL	0/1:2,9:11:42:304,0,42
chr1	235194228	rs10802438	A	G	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.842;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10802438;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|MIR4753|MIR4753|transcript|NR_039908.1|pseudogene||n.-4112T>C|||||4112|,G|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_001206794.1|protein_coding|18/23|c.1927-17T>C||||||,G|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_016374.5|protein_coding|18/23|c.1927-17T>C||||||,G|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_031371.3|protein_coding|17/22|c.1669-17T>C||||||,G|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NR_135074.1|pseudogene|18/24|n.2427-17T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1454;p3_1000G_AF=0.290335;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=16981;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.3559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235357543;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=361,4043;ESP6500_AA_GTC=22,317,1863;ESP6500_CDS_SIZES=NM_031371.3:3681,NM_016374.5:3939,NM_001206794.1:3939;ESP6500_CG=3.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=34;ESP6500_EA_AC=2727,5871;ESP6500_EA_GTC=483,1761,2055;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031371.3:intron,NM_016374.5:intron,NM_001206794.1:intron;ESP6500_GL=ARID4B;ESP6500_GRCh38_POSITION=1:235194228;ESP6500_GTC=505,2078,3918;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031371.3:c.1669-17T>C,NM_016374.5:c.1927-17T>C,NM_001206794.1:c.1927-17T>C;ESP6500_MAF=31.7167,8.1971,23.7502;ESP6500_TAC=3088,9914	GT:AD:DP:GQ:PL	0/1:4,6:10:98:182,0,98
chr1	235219873	rs4659654	A	G	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=-0.296;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4659654;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|ARID4B|ARID4B|transcript|NM_001206794.1|protein_coding|16/24|c.1503T>C|p.Asp501Asp|1880/5946|1503/3939|501/1312||,G|synonymous_variant|LOW|ARID4B|ARID4B|transcript|NM_016374.5|protein_coding|16/24|c.1503T>C|p.Asp501Asp|2001/6067|1503/3939|501/1312||,G|synonymous_variant|LOW|ARID4B|ARID4B|transcript|NM_031371.3|protein_coding|16/23|c.1503T>C|p.Asp501Asp|2001/5809|1503/3681|501/1226||,G|non_coding_transcript_exon_variant|MODIFIER|ARID4B|ARID4B|transcript|NR_135074.1|pseudogene|16/25|n.2003T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2261;p3_1000G_AF=0.451478;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=15454;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.4791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235383188;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2101,2305;ESP6500_AA_AGE=601.5+/-389.7;ESP6500_AA_GTC=494,1113,596;ESP6500_CDS_SIZES=NM_031371.3:3681,NM_016374.5:3939,NM_001206794.1:3939;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=197;ESP6500_EA_AC=3988,4610;ESP6500_EA_AGE=599.8+/-394.1;ESP6500_EA_GTC=924,2140,1235;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031371.3:coding-synonymous,NM_016374.5:coding-synonymous,NM_001206794.1:coding-synonymous;ESP6500_GL=ARID4B;ESP6500_GRCh38_POSITION=1:235219873;ESP6500_GTC=1418,3253,1831;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031371.3:c.1503T>C,NM_016374.5:c.1503T>C,NM_001206794.1:c.1503T>C;ESP6500_HGVS_PROTEIN_VAR=NM_031371.3:p.(D501),NM_016374.5:p.(D501),NM_001206794.1:p.(D501);ESP6500_MAF=46.3829,47.685,46.8241;ESP6500_TAC=6089,6915	GT:AD:DP:GQ:PL	0/1:17,10:27:99:224,0,363
chr1	235220036	rs3795250	T	C	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=0.967;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795250;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_001206794.1|protein_coding|15/23|c.1408-68A>G||||||,C|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_016374.5|protein_coding|15/23|c.1408-68A>G||||||,C|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_031371.3|protein_coding|15/22|c.1408-68A>G||||||,C|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NR_135074.1|pseudogene|15/24|n.1908-68A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1502;p3_1000G_AF=0.29992;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=13721;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.3648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235383351;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:61:142,0,61
chr1	235221523	rs12117563	G	A	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.976;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.494;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12117563;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_001206794.1|protein_coding|14/23|c.1163+42C>T||||||,A|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_016374.5|protein_coding|14/23|c.1163+42C>T||||||,A|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_031371.3|protein_coding|14/22|c.1163+42C>T||||||,A|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NR_135074.1|pseudogene|14/24|n.1663+42C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1282;p3_1000G_AF=0.25599;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=16312;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.1441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235384838;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=319,4081;ESP6500_AA_GTC=11,297,1892;ESP6500_CDS_SIZES=NM_031371.3:3681,NM_016374.5:3939,NM_001206794.1:3939;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=28;ESP6500_EA_AC=1313,7263;ESP6500_EA_GTC=100,1113,3075;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031371.3:intron,NM_016374.5:intron,NM_001206794.1:intron;ESP6500_GL=ARID4B;ESP6500_GRCh38_POSITION=1:235221523;ESP6500_GTC=111,1410,4967;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031371.3:c.1163+42C>T,NM_016374.5:c.1163+42C>T,NM_001206794.1:c.1163+42C>T;ESP6500_MAF=15.3102,7.25,12.5771;ESP6500_TAC=1632,11344	GT:AD:DP:GQ:PL	0/1:5,6:11:99:174,0,142
chr1	235229231	rs12731746	T	C	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.03;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.561;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12731746;dbSNPBuildID=121;ANN=C|splice_region_variant&synonymous_variant|LOW|ARID4B|ARID4B|transcript|NM_001206794.1|protein_coding|11/24|c.897A>G|p.Glu299Glu|1274/5946|897/3939|299/1312||,C|splice_region_variant&synonymous_variant|LOW|ARID4B|ARID4B|transcript|NM_016374.5|protein_coding|11/24|c.897A>G|p.Glu299Glu|1395/6067|897/3939|299/1312||,C|splice_region_variant&synonymous_variant|LOW|ARID4B|ARID4B|transcript|NM_031371.3|protein_coding|11/23|c.897A>G|p.Glu299Glu|1395/5809|897/3681|299/1226||,C|splice_region_variant&non_coding_transcript_exon_variant|LOW|ARID4B|ARID4B|transcript|NR_135074.1|pseudogene|11/25|n.1397A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2247;p3_1000G_AF=0.448682;p3_1000G_AFR_AF=0.4342;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17805;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.4791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235392546;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2060,2346;ESP6500_AA_AGE=605.0+/-390.5;ESP6500_AA_GTC=474,1112,617;ESP6500_CDS_SIZES=NM_031371.3:3681,NM_016374.5:3939,NM_001206794.1:3939;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=90;ESP6500_EA_AC=3983,4617;ESP6500_EA_AGE=598.5+/-393.9;ESP6500_EA_GTC=920,2143,1237;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031371.3:coding-synonymous-near-splice,NM_016374.5:coding-synonymous-near-splice,NM_001206794.1:coding-synonymous-near-splice;ESP6500_GL=ARID4B;ESP6500_GRCh38_POSITION=1:235229231;ESP6500_GTC=1394,3255,1854;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_031371.3:c.897A>G,NM_016374.5:c.897A>G,NM_001206794.1:c.897A>G;ESP6500_HGVS_PROTEIN_VAR=NM_031371.3:p.(E299),NM_016374.5:p.(E299),NM_001206794.1:p.(E299);ESP6500_MAF=46.314,46.7544,46.4632;ESP6500_TAC=6043,6963	GT:AD:DP:GQ:PL	0/1:22,11:33:99:307,0,620
chr1	235231226	rs7518225	A	C	42.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.319;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7518225;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_001206794.1|protein_coding|9/23|c.666-37T>G||||||,C|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_016374.5|protein_coding|9/23|c.666-37T>G||||||,C|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NM_031371.3|protein_coding|9/22|c.666-37T>G||||||,C|intron_variant|MODIFIER|ARID4B|ARID4B|transcript|NR_135074.1|pseudogene|9/24|n.1166-37T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2244;p3_1000G_AF=0.448083;p3_1000G_AFR_AF=0.4342;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=13872;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235394541;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1804,2472;ESP6500_AA_GTC=467,870,801;ESP6500_CDS_SIZES=NM_031371.3:3681,NM_016374.5:3939,NM_001206794.1:3939;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=13;ESP6500_EA_AC=3530,4904;ESP6500_EA_GTC=929,1672,1616;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031371.3:intron,NM_016374.5:intron,NM_001206794.1:intron;ESP6500_GL=ARID4B;ESP6500_GRCh38_POSITION=1:235231226;ESP6500_GTC=1396,2542,2417;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_031371.3:c.666-37T>G,NM_016374.5:c.666-37T>G,NM_001206794.1:c.666-37T>G;ESP6500_MAF=41.8544,42.189,41.967;ESP6500_TAC=5334,7376	GT:AD:DP:GQ:PL	0/1:1,3:4:25:71,0,25
chr1	235341998	rs3841735;rs397983318;rs869239571	A	AT	197.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.286;SOR=2.093;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3841735;dbSNPBuildID=107,147,138;ANN=AT|splice_region_variant&intron_variant|LOW|GGPS1|GGPS1|transcript|NM_001037277.1|protein_coding|3/3|c.142-6dupT||||||INFO_REALIGN_3_PRIME,AT|splice_region_variant&intron_variant|LOW|GGPS1|GGPS1|transcript|NR_036605.1|pseudogene|2/2|n.297-6dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|TTTTTTT|TTTTTTTT|unsure;p3_1000G_AC=1595;p3_1000G_AF=0.31849;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=17009;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.3549;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235505313;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=INDEL;ESP6500_AA_AC=1078,2948;ESP6500_AA_GTC=190,698,1125;ESP6500_CDS_SIZES=NM_001037277.1:903;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=13;ESP6500_EA_AC=2751,5371;ESP6500_EA_GTC=537,1677,1847;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001037277.1:intron;ESP6500_GL=GGPS1;ESP6500_GRCh38_POSITION=1:235341998;ESP6500_GTC=727,2375,2972;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001037277.1:c.142-13_142-12insT;ESP6500_MAF=33.871,26.776,31.5196;ESP6500_TAC=3829,8319	GT:AD:DP:GQ:PL	0/1:4,9:13:83:235,0,83
chr1	235379947	rs36068852	C	CA	34.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.895;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.89;ReadPosRankSum=-0.705;SOR=0.105;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11425048,rs36068852;dbSNPBuildID=126;ANN=CA|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287801.1|protein_coding|1/17|c.-31-55dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001079515.2|protein_coding|1/16|c.-31-55dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287802.1|protein_coding|1/15|c.-341-55dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_003193.4|protein_coding|1/16|c.-31-55dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2453;p3_1000G_AF=0.489816;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=18748;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235543262;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,7:12:53:72,0,53
chr1	235380161	rs766306474	TTGTGTGTGTGTGTGTGTGTG	T	789.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=24.35;SOR=3.816;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287801.1|protein_coding|2/17|c.100+46_100+65delGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001079515.2|protein_coding|2/16|c.100+46_100+65delGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287802.1|protein_coding|2/15|c.-211+46_-211+65delGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_003193.4|protein_coding|2/16|c.100+46_100+65delGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,6:6:99:827,421,383
chr1	235380161	.	TTGTGTGTGTGTGTGTGTGTG	TTG	789.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=24.35;SOR=3.816;DEL;HET;VARTYPE=DEL;ANN=TTG|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287801.1|protein_coding|2/17|c.100+48_100+65delGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,TTG|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001079515.2|protein_coding|2/16|c.100+48_100+65delGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,TTG|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287802.1|protein_coding|2/15|c.-211+48_-211+65delGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,TTG|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_003193.4|protein_coding|2/16|c.100+48_100+65delGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,13:13:99:827,188,123
chr1	235430867	rs2291687	A	G	180.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.83;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291687;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287801.1|protein_coding|7/17|c.660+63A>G||||||,G|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001079515.2|protein_coding|7/16|c.660+63A>G||||||,G|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287802.1|protein_coding|6/15|c.321+63A>G||||||,G|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_003193.4|protein_coding|7/16|c.660+63A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3675;p3_1000G_AF=0.733826;p3_1000G_AFR_AF=0.9644;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=17945;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235594182;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:209,21,0
chr1	235430935	rs2291688	A	G	84.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291688;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287801.1|protein_coding|7/17|c.660+131A>G||||||,G|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001079515.2|protein_coding|7/16|c.660+131A>G||||||,G|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287802.1|protein_coding|6/15|c.321+131A>G||||||,G|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_003193.4|protein_coding|7/16|c.660+131A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2527;p3_1000G_AF=0.504593;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=18902;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.504;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235594250;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:112,9,0
chr1	235435658	rs2055127	C	T	230.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2055127;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287801.1|protein_coding|9/17|c.891-87C>T||||||,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001079515.2|protein_coding|8/16|c.738-87C>T||||||,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287802.1|protein_coding|7/15|c.399-87C>T||||||,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_003193.4|protein_coding|8/16|c.738-87C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2535;p3_1000G_AF=0.50619;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=16276;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235598973;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:259,21,0
chr1	235438643	rs3819974	G	T	194.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3819974;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287801.1|protein_coding|13/17|c.1270-126G>T||||||,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001079515.2|protein_coding|12/16|c.1117-126G>T||||||,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287802.1|protein_coding|11/15|c.778-126G>T||||||,T|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_003193.4|protein_coding|12/16|c.1117-126G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3623;p3_1000G_AF=0.723442;p3_1000G_AFR_AF=0.9357;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=8070;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.6332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235601958;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:223,21,0
chr1	235448220	.	CAA	C	46.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;ANN=C|3_prime_UTR_variant|MODIFIER|B3GALNT2|B3GALNT2|transcript|NM_152490.4|protein_coding|12/12|c.*1984_*1985delTT|||||1984|,C|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287801.1|protein_coding|16/17|c.1553-110_1553-109delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001079515.2|protein_coding|15/16|c.1400-110_1400-109delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_001287802.1|protein_coding|14/15|c.1061-110_1061-109delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TBCE|TBCE|transcript|NM_003193.4|protein_coding|15/16|c.1400-110_1400-109delAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:83,9,0
chr1	235496168	rs12026526	G	A	168.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.14;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12026526;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|B3GALNT2|B3GALNT2|transcript|NM_152490.4|protein_coding|1/11|c.113-1340C>T||||||,A|intron_variant|MODIFIER|B3GALNT2|B3GALNT2|transcript|NM_001277155.2|protein_coding|2/7|c.235+18C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1582;p3_1000G_AF=0.315895;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=12763;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235659478;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:197,18,0
chr1	235496311	rs397959512;rs57723180	G	GA	152.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.068;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.66;SOR=0.892;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57723180;dbSNPBuildID=137,138;ANN=GA|splice_region_variant&intron_variant|LOW|B3GALNT2|B3GALNT2|transcript|NM_001277155.2|protein_coding|1/7|c.113-4dupT||||||,GA|intron_variant|MODIFIER|B3GALNT2|B3GALNT2|transcript|NM_152490.4|protein_coding|1/11|c.113-1484dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1494;p3_1000G_AF=0.298323;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=17216;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235659621;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,9:11:19:190,0,19
chr1	235504098	rs149884283	AC	A	300.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.34;SOR=1.802;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs149884283;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|B3GALNT2|B3GALNT2|transcript|NM_152490.4|protein_coding|1/11|c.112+42delG||||||,A|intron_variant|MODIFIER|B3GALNT2|B3GALNT2|transcript|NM_001277155.2|protein_coding|1/7|c.112+42delG||||||;p3_1000G_AA=CCCCCcC|CCCCCCC|CCCCCC|deletion;p3_1000G_AC=1832;p3_1000G_AF=0.365815;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=8071;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.1471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235667398;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=INDEL;ESP6500_AA_AC=73,143;ESP6500_AA_GTC=33,7,68;ESP6500_CDS_SIZES=NM_152490.2:1503;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=1;ESP6500_EA_AC=63,341;ESP6500_EA_GTC=29,5,168;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152490.2:intron;ESP6500_GL=B3GALNT2;ESP6500_GRCh38_POSITION=1:235504098;ESP6500_GTC=62,12,236;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_152490.2:c.112+42del1;ESP6500_MAF=15.5941,33.7963,21.9355;ESP6500_TAC=136,484	GT:AD:DP:GQ:PL	1/1:0,11:11:33:338,33,0
chr1	235504442	rs75700660	G	T	178.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.54;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75700660;dbSNPBuildID=132;ANN=T|5_prime_UTR_variant|MODIFIER|B3GALNT2|B3GALNT2|transcript|NM_152490.4|protein_coding|1/12|c.-190C>A|||||190|,T|5_prime_UTR_variant|MODIFIER|B3GALNT2|B3GALNT2|transcript|NM_001277155.2|protein_coding|1/8|c.-190C>A|||||190|;p3_1000G_AA=G|||;p3_1000G_AC=1129;p3_1000G_AF=0.225439;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=9657;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235667742;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:207,21,0
chr1	235552223	rs14326	A	G	1999.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs14326;dbSNPBuildID=105;ANN=G|synonymous_variant|LOW|GNG4|GNG4|transcript|NM_001098721.1|protein_coding|4/4|c.114T>C|p.Ala38Ala|442/4980|114/228|38/75||,G|synonymous_variant|LOW|GNG4|GNG4|transcript|NM_001098722.1|protein_coding|4/4|c.114T>C|p.Ala38Ala|568/5106|114/228|38/75||,G|synonymous_variant|LOW|GNG4|GNG4|transcript|NM_004485.3|protein_coding|3/3|c.114T>C|p.Ala38Ala|330/4868|114/228|38/75||,G|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.51+39350A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3161;p3_1000G_AF=0.63119;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=19704;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235715523;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2636,1770;ESP6500_AA_AGE=644.4+/-398.0;ESP6500_AA_GTC=795,1046,362;ESP6500_CDS_SIZES=NM_004485.3:228,NM_001098722.1:228,NM_001098721.1:228;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=91;ESP6500_EA_AC=4376,4224;ESP6500_EA_AGE=583.3+/-391.5;ESP6500_EA_GTC=1110,2156,1034;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004485.3:coding-synonymous,NM_001098722.1:coding-synonymous,NM_001098721.1:coding-synonymous;ESP6500_GL=GNG4;ESP6500_GRCh38_POSITION=1:235552223;ESP6500_GTC=1905,3202,1396;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004485.3:c.114T>C,NM_001098722.1:c.114T>C,NM_001098721.1:c.114T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004485.3:p.(A38),NM_001098722.1:p.(A38),NM_001098721.1:p.(A38);ESP6500_MAF=49.1163,40.1725,46.0864;ESP6500_TAC=7012,5994	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2028,189,0
chr1	235552256	rs423026	C	G	1545.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=1.659;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs423026;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.51+39383C>G||||||,G|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_001098721.1|protein_coding|3/3|c.100-19G>C||||||,G|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_001098722.1|protein_coding|3/3|c.100-19G>C||||||,G|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_004485.3|protein_coding|2/2|c.100-19G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3122;p3_1000G_AF=0.623403;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=19548;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235715556;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2534,1872;ESP6500_AA_AGE=631.6+/-395.7;ESP6500_AA_GTC=730,1074,399;ESP6500_CDS_SIZES=NM_004485.3:228,NM_001098722.1:228,NM_001098721.1:228;ESP6500_CG=-0.4;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=67;ESP6500_EA_AC=4375,4225;ESP6500_EA_AGE=583.1+/-391.5;ESP6500_EA_GTC=1110,2155,1035;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004485.3:intron,NM_001098722.1:intron,NM_001098721.1:intron;ESP6500_GL=GNG4;ESP6500_GRCh38_POSITION=1:235552256;ESP6500_GTC=1840,3229,1434;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004485.3:c.100-19G>C,NM_001098722.1:c.100-19G>C,NM_001098721.1:c.100-19G>C;ESP6500_MAF=49.1279,42.4875,46.8784;ESP6500_TAC=6909,6097	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1574,141,0
chr1	235552301	rs400948	A	G	1049.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs400948;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.51+39428A>G||||||,G|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_001098721.1|protein_coding|3/3|c.100-64T>C||||||,G|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_001098722.1|protein_coding|3/3|c.100-64T>C||||||,G|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_004485.3|protein_coding|2/2|c.100-64T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3124;p3_1000G_AF=0.623802;p3_1000G_AFR_AF=0.5635;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=20399;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235715601;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1078,84,0
chr1	235552317	rs452950	A	C	863.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=4.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs452950;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.51+39444A>C||||||,C|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_001098721.1|protein_coding|3/3|c.100-80T>G||||||,C|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_001098722.1|protein_coding|3/3|c.100-80T>G||||||,C|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_004485.3|protein_coding|2/2|c.100-80T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3124;p3_1000G_AF=0.623802;p3_1000G_AFR_AF=0.5635;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=21595;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235715617;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:892,72,0
chr1	235583705	rs2774335	C	T	948.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2774335;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.51+70832C>T||||||,T|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_001098721.1|protein_coding|3/3|c.99+35G>A||||||,T|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_001098722.1|protein_coding|3/3|c.99+35G>A||||||,T|intron_variant|MODIFIER|GNG4|GNG4|transcript|NM_004485.3|protein_coding|2/2|c.99+35G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2501;p3_1000G_AF=0.499401;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=21108;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.3757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235747005;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1728,2678;ESP6500_AA_AGE=518.1+/-369.6;ESP6500_AA_GTC=340,1048,815;ESP6500_CDS_SIZES=NM_004485.3:228,NM_001098722.1:228,NM_001098721.1:228;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=3089,5511;ESP6500_EA_AGE=473.7+/-368.7;ESP6500_EA_GTC=588,1913,1799;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004485.3:intron,NM_001098722.1:intron,NM_001098721.1:intron;ESP6500_GL=GNG4;ESP6500_GRCh38_POSITION=1:235583705;ESP6500_GTC=928,2961,2614;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004485.3:c.99+35G>A,NM_001098722.1:c.99+35G>A,NM_001098721.1:c.99+35G>A;ESP6500_MAF=35.9186,39.2192,37.0368;ESP6500_TAC=4817,8189	GT:AD:DP:GQ:PL	1/1:0,31:31:93:977,93,0
chr1	235583854	rs2774336	A	G	1488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=1.364;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2774336;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|GNG4|GNG4|transcript|NM_001098721.1|protein_coding|2/3|c.-10-6T>C||||||,G|splice_region_variant&intron_variant|LOW|GNG4|GNG4|transcript|NM_001098722.1|protein_coding|2/3|c.-10-6T>C||||||,G|splice_region_variant&intron_variant|LOW|GNG4|GNG4|transcript|NM_004485.3|protein_coding|1/2|c.-10-6T>C||||||,G|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.51+70981A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2478;p3_1000G_AF=0.494808;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=20671;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.3767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235747154;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1655,2751;ESP6500_AA_AGE=503.5+/-365.6;ESP6500_AA_GTC=310,1035,858;ESP6500_CDS_SIZES=NM_004485.3:228,NM_001098722.1:228,NM_001098721.1:228;ESP6500_CG=4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=114;ESP6500_EA_AC=3087,5513;ESP6500_EA_AGE=470.9+/-367.9;ESP6500_EA_GTC=586,1915,1799;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004485.3:intron,NM_001098722.1:intron,NM_001098721.1:intron;ESP6500_GL=GNG4;ESP6500_GRCh38_POSITION=1:235583854;ESP6500_GTC=896,2950,2657;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004485.3:c.-16T>C,NM_001098722.1:c.-16T>C,NM_001098721.1:c.-16T>C;ESP6500_MAF=35.8953,37.5624,36.4601;ESP6500_TAC=4742,8264	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1517,132,0
chr1	235663082	rs36014994;rs556428133;rs796277765;403065	TA	T	250.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.452;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.132;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs36014994;dbSNPBuildID=126,142,146;ANN=T|splice_region_variant&intron_variant|LOW|LYST|LYST|transcript|NM_000081.3|protein_coding|52/52|c.11268-5delT||||||,T|splice_region_variant&intron_variant|LOW|LYST|LYST|transcript|NM_001301365.1|protein_coding|52/52|c.11268-5delT||||||,T|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.52-55000delA||||||INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=389398;CLINVAR_CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLINVAR_CLNDN=Chédiak-Higashi_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235663083delA;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=556428133|36014994	GT:AD:DP:GQ:PL	0/1:6,13:19:99:288,0,101
chr1	235664143	rs3819013	T	C	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.674;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3819013;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.52-53952T>C||||||,C|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|51/52|c.11196-88A>G||||||,C|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|51/52|c.11196-88A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1234;p3_1000G_AF=0.246406;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=16459;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.5577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235827443;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:87:97,0,87
chr1	235693238	rs5781839	G	GC	106.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.5;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5781839;dbSNPBuildID=132;ANN=GC|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.52-24855dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|47/52|c.10701+111dupG||||||,GC|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|47/52|c.10701+111dupG||||||;p3_1000G_AA=CCc|CC|CCC|deletion;p3_1000G_AC=4875;p3_1000G_AF=0.973442;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=16503;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.9344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235856538;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:143,12,0
chr1	235697040	rs7541057;254908	C	T	584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.377;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=1.11;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7541057;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MIR5096|MIR5096.2|transcript|NR_039973.1.2|pseudogene|1/1|n.52-21055C>T||||||,T|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|46/52|c.10564+43G>A||||||,T|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|46/52|c.10564+43G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2003;p3_1000G_AF=0.39996;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=21889;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.5497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235860340;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3193,1213;ESP6500_AA_AGE=411.7+/-335.8;ESP6500_AA_GTC=1130,933,140;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=4379,4219;ESP6500_EA_AGE=560.9+/-387.7;ESP6500_EA_GTC=1128,2123,1048;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:intron;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235697040;ESP6500_GTC=2258,3056,1188;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.10564+43G>A;ESP6500_MAF=49.0696,27.5306,41.7718;ESP6500_TAC=7572,5432;CLINVAR_AF_EXAC=0.43660;CLINVAR_AF_TGP=0.4000;CLINVAR_ALLELEID=249775;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235697040C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7541057	GT:AD:DP:GQ:PL	0/1:28,24:52:99:613,0,829
chr1	235723976	rs6667717	G	T	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.13;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.026;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6667717;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|39/52|c.9315+52C>A||||||,T|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|39/52|c.9315+52C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2062;p3_1000G_AF=0.411741;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=18848;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235887276;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1440,312;ESP6500_AA_GTC=598,244,34;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=1589,2393;ESP6500_EA_GTC=318,953,720;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:intron;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235723976;ESP6500_GTC=916,1197,754;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.9315+52C>A;ESP6500_MAF=39.9046,17.8082,47.1747;ESP6500_TAC=3029,2705	GT:AD:DP:GQ:PL	0/1:6,7:13:99:203,0,216
chr1	235733426	rs6429275	C	T	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.807;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.549;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6429275;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|34/52|c.8801+77G>A||||||,T|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|34/52|c.8801+77G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2066;p3_1000G_AF=0.41254;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=16296;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.4264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235896726;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:207,0,157
chr1	235747092	rs6676149	A	G	81.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.45;ReadPosRankSum=1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6676149;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|28/52|c.7781-565T>C||||||,G|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|28/52|c.7781-565T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1525;p3_1000G_AF=0.304513;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=18218;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.4294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235910392;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:24:110,0,24
chr1	235747242	rs3754234	C	T	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.493;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.19;ReadPosRankSum=0.905;SOR=1.22;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754234;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|28/52|c.7781-715G>A||||||,T|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|28/52|c.7781-715G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2063;p3_1000G_AF=0.411941;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=16452;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.4264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235910542;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,11:30:99:214,0,424
chr1	235770048	rs11443965;rs397939532;rs561142172	G	GA	150.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.516;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.335;SOR=0.495;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11443965;dbSNPBuildID=142,126,138;ANN=GA|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|20/52|c.5922+111dupT||||||,GA|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|20/52|c.5922+111dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=644;p3_1000G_AF=0.128594;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=18707;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.1531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235933348;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,8:12:77:188,0,77
chr1	235777150	rs2273584;254927	C	T	592.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.282;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.18;SOR=1.234;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2273584;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|LYST|LYST|transcript|NM_000081.3|protein_coding|17/53|c.5373G>A|p.Lys1791Lys|5555/13497|5373/11406|1791/3801||,T|synonymous_variant|LOW|LYST|LYST|transcript|NM_001301365.1|protein_coding|17/53|c.5373G>A|p.Lys1791Lys|5992/13934|5373/11406|1791/3801||;p3_1000G_AA=C|||;p3_1000G_AC=1507;p3_1000G_AF=0.300919;p3_1000G_AFR_AF=0.4871;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=16012;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235940450;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2229,2177;ESP6500_AA_AGE=588.0+/-386.8;ESP6500_AA_GTC=567,1095,541;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=152;ESP6500_EA_AC=3434,5166;ESP6500_EA_AGE=505.0+/-376.3;ESP6500_EA_GTC=679,2076,1545;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:coding-synonymous;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235777150;ESP6500_GTC=1246,3171,2086;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.5373G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000081.2:p.(K1791);ESP6500_MAF=39.9302,49.4099,43.5414;ESP6500_TAC=5663,7343;CLINVAR_AF_ESP=0.4354;CLINVAR_AF_EXAC=0.34832;CLINVAR_AF_TGP=0.3009;CLINVAR_ALLELEID=249791;CLINVAR_CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLINVAR_CLNDN=Chédiak-Higashi_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235777150C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:834242;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2273584	GT:AD:DP:GQ:PL	0/1:26,26:52:99:621,0,630
chr1	235781886	rs72763416;254924	G	A	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.763;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0;SOR=0.074;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72763416;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|15/52|c.5023+41C>T||||||,A|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|15/52|c.5023+41C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=354;p3_1000G_AF=0.0706869;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=14424;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0.1481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235945186;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=338,4068;ESP6500_AA_AGE=174.1+/-203.8;ESP6500_AA_GTC=6,326,1871;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=47;ESP6500_EA_AC=1175,7425;ESP6500_EA_AGE=238.1+/-269.7;ESP6500_EA_GTC=74,1027,3199;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:intron;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235781886;ESP6500_GTC=80,1353,5070;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.5023+41C>T;ESP6500_MAF=13.6628,7.6714,11.6331;ESP6500_TAC=1513,11493;CLINVAR_AF_ESP=0.1163;CLINVAR_AF_EXAC=0.10574;CLINVAR_AF_TGP=0.0707;CLINVAR_ALLELEID=249794;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235781886G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=72763416	GT:AD:DP:GQ:PL	0/1:5,6:11:99:159,0,149
chr1	235781994	rs6696123;254923	T	C	541.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.437;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=-0.314;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6696123;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|LYST|LYST|transcript|NM_000081.3|protein_coding|15/53|c.4956A>G|p.Leu1652Leu|5138/13497|4956/11406|1652/3801||,C|synonymous_variant|LOW|LYST|LYST|transcript|NM_001301365.1|protein_coding|15/53|c.4956A>G|p.Leu1652Leu|5575/13934|4956/11406|1652/3801||;p3_1000G_AA=T|||;p3_1000G_AC=1520;p3_1000G_AF=0.303514;p3_1000G_AFR_AF=0.4879;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=15207;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235945294;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2237,2169;ESP6500_AA_AGE=593.4+/-388.0;ESP6500_AA_GTC=570,1097,536;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=-6.4;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=107;ESP6500_EA_AC=3435,5165;ESP6500_EA_AGE=506.2+/-376.5;ESP6500_EA_GTC=679,2077,1544;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:coding-synonymous;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235781994;ESP6500_GTC=1249,3174,2080;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.4956A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000081.2:p.(L1652);ESP6500_MAF=39.9419,49.2283,43.6106;ESP6500_TAC=5672,7334;CLINVAR_AF_ESP=0.4361;CLINVAR_AF_EXAC=0.35012;CLINVAR_AF_TGP=0.3035;CLINVAR_ALLELEID=249795;CLINVAR_CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLINVAR_CLNDN=Chédiak-Higashi_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235781994T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:834245;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6696123	GT:AD:DP:GQ:PL	0/1:9,21:30:99:570,0,197
chr1	235782202	rs2011390	A	G	231.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2011390;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|LYST|LYST|transcript|NM_000081.3|protein_coding|14/52|c.4863-115T>C||||||,G|intron_variant|MODIFIER|LYST|LYST|transcript|NM_001301365.1|protein_coding|14/52|c.4863-115T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4096;p3_1000G_AF=0.817891;p3_1000G_AFR_AF=0.9138;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=11076;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.7694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235945502;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:235782180_CT_C:260,21,0
chr1	235791850	rs11583387;254921	G	A	607.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.554;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.608;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.809;SOR=1.06;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11583387;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|LYST|LYST|transcript|NM_000081.3|protein_coding|12/53|c.4392C>T|p.Asn1464Asn|4574/13497|4392/11406|1464/3801||,A|synonymous_variant|LOW|LYST|LYST|transcript|NM_001301365.1|protein_coding|12/53|c.4392C>T|p.Asn1464Asn|5011/13934|4392/11406|1464/3801||;p3_1000G_AA=G|||;p3_1000G_AC=322;p3_1000G_AF=0.0642971;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=17612;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0.1272;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235955150;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=310,4096;ESP6500_AA_AGE=164.7+/-196.3;ESP6500_AA_GTC=5,300,1898;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=114;ESP6500_EA_AC=961,7639;ESP6500_EA_AGE=211.0+/-251.7;ESP6500_EA_GTC=49,863,3388;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:coding-synonymous;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235791850;ESP6500_GTC=54,1163,5286;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.4392C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000081.2:p.(N1464);ESP6500_MAF=11.1744,7.0359,9.7724;ESP6500_TAC=1271,11735;CLINVAR_AF_ESP=0.0977;CLINVAR_AF_EXAC=0.08586;CLINVAR_AF_TGP=0.0643;CLINVAR_ALLELEID=249797;CLINVAR_CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLINVAR_CLNDN=Chédiak-Higashi_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235791850G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:834248;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11583387	GT:AD:DP:GQ:PL	0/1:29,27:56:99:636,0,778
chr1	235808463	rs3768066;254915	A	G	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.113;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768066;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|LYST|LYST|transcript|NM_000081.3|protein_coding|5/53|c.2355T>C|p.Leu785Leu|2537/13497|2355/11406|785/3801||,G|synonymous_variant|LOW|LYST|LYST|transcript|NM_001301365.1|protein_coding|5/53|c.2355T>C|p.Leu785Leu|2974/13934|2355/11406|785/3801||;p3_1000G_AA=A|||;p3_1000G_AC=354;p3_1000G_AF=0.0706869;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=16372;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0.1481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235971763;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=340,4066;ESP6500_AA_AGE=175.9+/-205.1;ESP6500_AA_GTC=6,328,1869;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=-5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=64;ESP6500_EA_AC=1175,7425;ESP6500_EA_AGE=241.0+/-271.5;ESP6500_EA_GTC=74,1027,3199;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:coding-synonymous;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235808463;ESP6500_GTC=80,1355,5068;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.2355T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000081.2:p.(L785);ESP6500_MAF=13.6628,7.7167,11.6485;ESP6500_TAC=1515,11491;CLINVAR_AF_ESP=0.1165;CLINVAR_AF_EXAC=0.10350;CLINVAR_AF_TGP=0.0707;CLINVAR_ALLELEID=249803;CLINVAR_CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLINVAR_CLNDN=Chédiak-Higashi_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235808463A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:834251;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3768066	GT:AD:DP:GQ:PL	0/1:17,14:31:99:388,0,422
chr1	235809135	rs3820553;254912	T	C	1450.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.54;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0.849;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=1.71;SOR=0.816;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820553;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|LYST|LYST|transcript|NM_000081.3|protein_coding|5/53|c.1683A>G|p.Leu561Leu|1865/13497|1683/11406|561/3801||,C|synonymous_variant|LOW|LYST|LYST|transcript|NM_001301365.1|protein_coding|5/53|c.1683A>G|p.Leu561Leu|2302/13934|1683/11406|561/3801||;p3_1000G_AA=T|||;p3_1000G_AC=1516;p3_1000G_AF=0.302716;p3_1000G_AFR_AF=0.4879;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=19124;p3_1000G_EAS_AF=0.0665;p3_1000G_EUR_AF=0.4235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235972435;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2242,2164;ESP6500_AA_AGE=591.9+/-387.7;ESP6500_AA_GTC=572,1098,533;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=-4.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=104;ESP6500_EA_AC=3437,5163;ESP6500_EA_AGE=502.3+/-375.6;ESP6500_EA_GTC=680,2077,1543;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:coding-synonymous;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235809135;ESP6500_GTC=1252,3175,2076;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.1683A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000081.2:p.(L561);ESP6500_MAF=39.9651,49.1148,43.6645;ESP6500_TAC=5679,7327;CLINVAR_AF_ESP=0.4367;CLINVAR_AF_EXAC=0.34992;CLINVAR_AF_TGP=0.3027;CLINVAR_ALLELEID=249806;CLINVAR_CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLINVAR_CLNDN=Chédiak-Higashi_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235809135T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:834254;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3820553	GT:AD:DP:GQ:PL	0/1:33,47:80:99:1479,0,773
chr1	235809567	rs1063128;254910	T	C	714.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.23;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.575;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1063128;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|LYST|LYST|transcript|NM_000081.3|protein_coding|5/53|c.1251A>G|p.Gln417Gln|1433/13497|1251/11406|417/3801||,C|synonymous_variant|LOW|LYST|LYST|transcript|NM_001301365.1|protein_coding|5/53|c.1251A>G|p.Gln417Gln|1870/13934|1251/11406|417/3801||;p3_1000G_AA=T|||;p3_1000G_AC=1519;p3_1000G_AF=0.303315;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=19059;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=235972867;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2242,2164;ESP6500_AA_AGE=582.9+/-385.7;ESP6500_AA_GTC=572,1098,533;ESP6500_CDS_SIZES=NM_000081.2:11406;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=85;ESP6500_EA_AC=3435,5165;ESP6500_EA_AGE=503.9+/-376.0;ESP6500_EA_GTC=678,2079,1543;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000081.2:coding-synonymous;ESP6500_GL=LYST;ESP6500_GRCh38_POSITION=1:235809567;ESP6500_GTC=1250,3177,2076;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000081.2:c.1251A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000081.2:p.(Q417);ESP6500_MAF=39.9419,49.1148,43.6491;ESP6500_TAC=5677,7329;CLINVAR_AF_ESP=0.4365;CLINVAR_AF_EXAC=0.34999;CLINVAR_AF_TGP=0.3033;CLINVAR_ALLELEID=249807;CLINVAR_CLNDISDB=MedGen:C0007965,OMIM:214500,Orphanet:ORPHA167,SNOMED_CT:111396008|MedGen:CN169374;CLINVAR_CLNDN=Chédiak-Higashi_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.235809567T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:834257;CLINVAR_GENEINFO=LYST:1130;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1063128	GT:AD:DP:GQ:PL	0/1:32,25:57:99:743,0,856
chr1	235977874	rs3213190	T	C	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.944;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.085;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-0.966;SOR=0.994;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213190;dbSNPBuildID=106;ANN=C|missense_variant|MODERATE|NID1|NID1|transcript|NM_002508.2|protein_coding|20/20|c.3737A>G|p.Gln1246Arg|3839/5881|3737/3744|1246/1247||;p3_1000G_AA=C|||;p3_1000G_AC=1724;p3_1000G_AF=0.344249;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=21512;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.1451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236141174;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1539,2867;ESP6500_AA_AGE=671.9+/-402.5;ESP6500_AA_GTC=257,1025,921;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=107;ESP6500_EA_AC=1504,7096;ESP6500_EA_AGE=748.1+/-407.3;ESP6500_EA_GTC=123,1258,2919;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002508.2:missense;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:235977874;ESP6500_GS=43;ESP6500_GTC=380,2283,3840;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.3737A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002508.2:p.(Q1246R);ESP6500_MAF=17.4884,34.9296,23.3969;ESP6500_PH=benign:0.0;ESP6500_TAC=3043,9963	GT:AD:DP:GQ:PL	0/1:36,22:58:99:519,0,937
chr1	235978953	rs12032474	T	G	598.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.21;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=6.032;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.921;SOR=1.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12032474;dbSNPBuildID=120;ANN=G|sequence_feature|LOW|NID1|NID1|domain:EGF-like_6|NM_002508.2|protein_coding|19/19|c.3622+42A>C||||||,G|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|19/19|c.3622+42A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1722;p3_1000G_AF=0.34385;p3_1000G_AFR_AF=0.3843;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=19066;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.1441;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236142253;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1529,2877;ESP6500_AA_AGE=672.8+/-402.7;ESP6500_AA_GTC=253,1023,927;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=82;ESP6500_EA_AC=1504,7096;ESP6500_EA_AGE=747.9+/-407.3;ESP6500_EA_GTC=123,1258,2919;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002508.2:intron;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:235978953;ESP6500_GTC=376,2281,3846;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.3622+42A>C;ESP6500_MAF=17.4884,34.7027,23.32;ESP6500_TAC=3033,9973	GT:AD:DP:GQ:PL	0/1:31,22:53:99:627,0,746
chr1	235980002	rs3831989;rs577463598	C	CA	217.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.93;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=2.062;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.286;SOR=0.199;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3831989;dbSNPBuildID=142,137;ANN=CA|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|17/19|c.3386-58dupT||||||;p3_1000G_AA=?|AAAAAAAA|AAAAAAAAA|unsure;p3_1000G_AC=1692;p3_1000G_AF=0.337859;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=20726;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.1451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236143302;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:17,12:29:99:255,0,424
chr1	235981651	rs3738525	A	G	1152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=1.937;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-0.288;SOR=0.974;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738525;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|NID1|NID1|transcript|NM_002508.2|protein_coding|16/20|c.3187T>C|p.Leu1063Leu|3289/5881|3187/3744|1063/1247||;p3_1000G_AA=G|||;p3_1000G_AC=1675;p3_1000G_AF=0.334465;p3_1000G_AFR_AF=0.3555;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=19135;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236144951;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1481,2925;ESP6500_AA_AGE=678.6+/-403.6;ESP6500_AA_GTC=235,1011,957;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=91;ESP6500_EA_AC=1478,7122;ESP6500_EA_AGE=749.6+/-407.4;ESP6500_EA_GTC=118,1242,2940;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002508.2:coding-synonymous;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:235981651;ESP6500_GTC=353,2253,3897;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.3187T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002508.2:p.(L1063);ESP6500_MAF=17.186,33.6133,22.751;ESP6500_TAC=2959,10047	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1181,0,771
chr1	235981845	rs715956	T	C	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.61;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=-0.37;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs715956;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|15/19|c.3056-63A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1677;p3_1000G_AF=0.334864;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=21008;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.1402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236145145;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:374,0,225
chr1	235991065	rs4660137	G	T	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.802;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.564;SOR=2.03;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660137;dbSNPBuildID=111;ANN=T|splice_region_variant&intron_variant|LOW|NID1|NID1|transcript|NM_002508.2|protein_coding|13/19|c.2756-7C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1742;p3_1000G_AF=0.347843;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=18788;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.1412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236154365;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1633,2773;ESP6500_AA_AGE=490.1+/-361.7;ESP6500_AA_GTC=281,1071,851;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=39;ESP6500_EA_AC=1485,7115;ESP6500_EA_AGE=275.8+/-292.0;ESP6500_EA_GTC=122,1241,2937;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002508.2:intron;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:235991065;ESP6500_GTC=403,2312,3788;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.2756-7C>A;ESP6500_MAF=17.2674,37.0631,23.9736;ESP6500_TAC=3118,9888	GT:AD:DP:GQ:PL	0/1:9,9:18:99:243,0,251
chr1	235991128	rs569425269	C	CA	138.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=6.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.473;SOR=3.18;INS;HET;VARTYPE=INS;dbSNP138_ID=rs67633802;dbSNPBuildID=142;ANN=CA|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|13/19|c.2756-71_2756-70insT||||||;p3_1000G_AA=|||unknown(STR2?);p3_1000G_AC=1546;p3_1000G_AF=0.308706;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=18092;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236154428;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:235991128_C_CA:176,0,413
chr1	235991129	rs536964808	C	CA	138.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.53;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=6.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.165;SOR=3.18;INS;HET;VARTYPE=INS;dbSNP138_ID=rs371931174;dbSNPBuildID=142;ANN=CA|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|13/19|c.2756-72_2756-71insT||||||;p3_1000G_AA=|||unknown(STR2?);p3_1000G_AC=1546;p3_1000G_AF=0.308706;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=18188;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236154429;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:235991128_C_CA:176,0,413
chr1	236011853	rs2031486	T	C	1063.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=1.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=0.094;SOR=0.994;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2031486;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|12/19|c.2527+68A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=809;p3_1000G_AF=0.161542;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18139;p3_1000G_EAS_AF=0.0873;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236175153;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,37:64:99:1092,0,687
chr1	236012039	rs2031487	T	C	2520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=1.673;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2031487;dbSNPBuildID=94;ANN=C|synonymous_variant|LOW|NID1|NID1|transcript|NM_002508.2|protein_coding|12/20|c.2409A>G|p.Val803Val|2511/5881|2409/3744|803/1247||;p3_1000G_AA=C|||;p3_1000G_AC=3489;p3_1000G_AF=0.696685;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=14566;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236175339;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3351,1055;ESP6500_AA_AGE=386.5+/-326.1;ESP6500_AA_GTC=1280,791,132;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=80;ESP6500_EA_AC=4259,4341;ESP6500_EA_AGE=580.9+/-391.1;ESP6500_EA_GTC=1062,2135,1103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002508.2:coding-synonymous;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:236012039;ESP6500_GTC=2342,2926,1235;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.2409A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002508.2:p.(V803);ESP6500_MAF=49.5233,23.9446,41.4885;ESP6500_TAC=7610,5396	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2549,225,0
chr1	236013690	rs10803217	T	C	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10803217;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|10/19|c.2255-130A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1413;p3_1000G_AF=0.282149;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=20329;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.3847;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236176990;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:58:61,0,58
chr1	236017280	rs3768081	C	G	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.076;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.11;ReadPosRankSum=0.689;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768081;dbSNPBuildID=107;ANN=G|splice_region_variant&intron_variant|LOW|NID1|NID1|transcript|NM_002508.2|protein_coding|9/19|c.2129-7G>C||||||,G|sequence_feature|LOW|NID1|NID1|domain:EGF-like_3|NM_002508.2|protein_coding|9/19|c.2129-7G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2025;p3_1000G_AF=0.404353;p3_1000G_AFR_AF=0.3585;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=16614;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.1093;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236180580;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1460,2946;ESP6500_AA_AGE=446.7+/-348.1;ESP6500_AA_GTC=263,934,1006;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=72;ESP6500_EA_AC=992,7608;ESP6500_EA_AGE=212.5+/-252.8;ESP6500_EA_GTC=58,876,3366;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002508.2:intron;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:236017280;ESP6500_GTC=321,1810,4372;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.2129-7G>C;ESP6500_MAF=11.5349,33.1366,18.8528;ESP6500_TAC=2452,10554	GT:AD:DP:GQ:PL	0/1:5,11:16:99:382,0,168
chr1	236024192	rs3738534	T	C	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.62;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=2.747;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=2.25;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738534;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|NID1|NID1|transcript|NM_002508.2|protein_coding|9/20|c.2006A>G|p.Gln669Arg|2108/5881|2006/3744|669/1247||;p3_1000G_AA=T|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20780;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236187492;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=58;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002508.2:missense;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:236024192;ESP6500_GS=43;ESP6500_GTC=0,1,6502;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.2006A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002508.2:p.(Q669R);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=benign:0.005;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:22,17:39:99:484,0,518
chr1	236029482	rs3818238	G	A	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.361;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=0.917;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3818238;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|7/19|c.1738+68C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1098;p3_1000G_AF=0.219249;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=14547;p3_1000G_EAS_AF=0.4117;p3_1000G_EUR_AF=0.0447;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236192782;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:132,0,256
chr1	236029845	rs2273586	G	C	639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.85;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273586;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|6/19|c.1538-95C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2216;p3_1000G_AF=0.442492;p3_1000G_AFR_AF=0.5825;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=18561;p3_1000G_EAS_AF=0.498;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236193145;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:668,48,0
chr1	236038309	rs4659620	T	G	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.402;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.875;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4659620;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|4/19|c.1136-56A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=675;p3_1000G_AF=0.134784;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=17635;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236201609;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:187,0,110
chr1	236041821	rs4297282	T	C	30.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.925;SOR=1.954;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4297282;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|4/19|c.1135+89A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2929;p3_1000G_AF=0.584864;p3_1000G_AFR_AF=0.6452;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=21393;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236205121;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,3:22:59:59,0,517
chr1	236045388	rs10733131	A	G	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.81;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10733131;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|3/19|c.752+69T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2933;p3_1000G_AF=0.585663;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=16642;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236208688;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:236045388_A_G:189,0,464
chr1	236045389	rs10733132	T	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.81;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10733132;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|3/19|c.752+68A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:236045388_A_G:189,0,464
chr1	236045473	rs10733133	C	T	571.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.94;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.681;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-2.112;SOR=0.411;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10733133;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|NID1|NID1|transcript|NM_002508.2|protein_coding|3/20|c.736G>A|p.Val246Ile|838/5881|736/3744|246/1247||;p3_1000G_AA=T|||;p3_1000G_AC=2941;p3_1000G_AF=0.58726;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=17367;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.4334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236208773;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2717,1689;ESP6500_AA_AGE=509.9+/-367.4;ESP6500_AA_GTC=824,1069,310;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=81;ESP6500_EA_AC=3699,4901;ESP6500_EA_AGE=619.4+/-396.9;ESP6500_EA_GTC=801,2097,1402;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002508.2:missense;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:236045473;ESP6500_GS=29;ESP6500_GTC=1625,3166,1712;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.736G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002508.2:p.(V246I);ESP6500_MAF=43.0116,38.3341,49.3311;ESP6500_PH=benign:0.0;ESP6500_TAC=6416,6590	GT:AD:DP:GQ:PL	0/1:17,22:39:99:600,0,515
chr1	236045724	rs3768088	C	G	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.46;ReadPosRankSum=-1.82;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768088;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|NID1|NID1|transcript|NM_002508.2|protein_coding|2/19|c.526-41G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2941;p3_1000G_AF=0.58726;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=20375;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.4334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236209024;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2708,1690;ESP6500_AA_GTC=829,1050,320;ESP6500_CDS_SIZES=NM_002508.2:3744;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=19;ESP6500_EA_AC=3673,4923;ESP6500_EA_GTC=807,2059,1432;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002508.2:intron;ESP6500_GL=NID1;ESP6500_GRCh38_POSITION=1:236045724;ESP6500_GTC=1636,3109,1752;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002508.2:c.526-41G>C;ESP6500_MAF=42.7292,38.4266,49.1073;ESP6500_TAC=6381,6613	GT:AD:DP:GQ:PL	0/1:5,14:19:99:474,0,127
chr1	236205091	rs3215798;~rs3215798	C	CT	2166.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.649;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3215798;dbSNPBuildID=135;ANN=CT|intron_variant|MODIFIER|GPR137B|GPR137B|transcript|NM_003272.3|protein_coding|5/6|c.967-34dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=1955;p3_1000G_AF=0.390375;p3_1000G_AFR_AF=0.3328;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=22149;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.2594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236368391;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=INDEL;ESP6500_AA_AC=1396,2870;ESP6500_AA_GTC=240,916,977;ESP6500_CDS_SIZES=NM_003272.3:1200;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=97;ESP6500_EA_AC=2154,6100;ESP6500_EA_GTC=242,1670,2215;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003272.3:intron;ESP6500_GL=GPR137B;ESP6500_GRCh38_POSITION=1:236205091;ESP6500_GTC=482,2586,3192;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003272.3:c.967-35_967-34insT;ESP6500_MAF=26.0964,32.7239,28.3546;ESP6500_TAC=3550,8970	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2204,178,0
chr1	236218525	rs1055851	G	C	389.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.84;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1055851;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|16/16|c.1395C>G|p.His465Gln|1651/5054|1395/1404|465/467||;p3_1000G_AA=G|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=15123;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236381825;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2147,2251;ESP6500_AA_AGE=560.0+/-380.4;ESP6500_AA_GTC=511,1125,563;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=61;ESP6500_EA_AC=3443,5119;ESP6500_EA_AGE=496.6+/-374.3;ESP6500_EA_GTC=679,2085,1517;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019891.3:missense;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236218525;ESP6500_GS=24;ESP6500_GTC=1190,3210,2080;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.1395C>G;ESP6500_HGVS_PROTEIN_VAR=NM_019891.3:p.(H465Q);ESP6500_MAF=40.2126,48.8176,43.1327;ESP6500_PH=benign:0.001;ESP6500_TAC=5590,7370	GT:AD:DP:GQ:PL	1/1:0,14:14:42:418,42,0
chr1	236218597	rs1615601	T	A	340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1615601;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|15/15|c.1344-21A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=16500;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236381897;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2124,2276;ESP6500_AA_AGE=570.5+/-382.9;ESP6500_AA_GTC=506,1112,582;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=47;ESP6500_EA_AC=3442,5130;ESP6500_EA_AGE=623.9+/-397.5;ESP6500_EA_GTC=681,2080,1525;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236218597;ESP6500_GTC=1187,3192,2107;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.1344-21A>T;ESP6500_MAF=40.154,48.2727,42.9078;ESP6500_TAC=5566,7406	GT:AD:DP:GQ:PL	1/1:0,12:12:36:369,36,0
chr1	236218617	rs1614938	T	A	301.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.43;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1614938;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|15/15|c.1344-41A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=17027;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236381917;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2120,2270;ESP6500_AA_AGE=560.3+/-380.4;ESP6500_AA_GTC=505,1110,580;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=39;ESP6500_EA_AC=3429,5137;ESP6500_EA_AGE=617.9+/-396.7;ESP6500_EA_GTC=680,2069,1534;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236218617;ESP6500_GTC=1185,3179,2114;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.1344-41A>T;ESP6500_MAF=40.0304,48.2916,42.8296;ESP6500_TAC=5549,7407	GT:AD:DP:GQ:PL	1/1:0,11:11:33:330,33,0
chr1	236218648	rs67032008	AC	A	205.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67032008;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|15/15|c.1344-73delG||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=658;p3_1000G_AF=0.13139;p3_1000G_AFR_AF=0.0582;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=17565;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236381948;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=INDEL;ESP6500_AA_AC=239,3971;ESP6500_AA_GTC=16,207,1882;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=26;ESP6500_EA_AC=244,7928;ESP6500_EA_GTC=7,230,3849;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236218648;ESP6500_GTC=23,437,5731;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.1344-73del1;ESP6500_MAF=2.9858,5.677,3.9008;ESP6500_TAC=483,11899	GT:AD:DP:GQ:PL	1/1:0,6:6:18:243,18,0
chr1	236218687	rs1749598	A	G	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1749598;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|15/15|c.1344-111T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2841;p3_1000G_AF=0.567292;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18060;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236381987;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:236218687_A_G:180,12,0
chr1	236218689	rs1749599	C	A	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1749599;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|15/15|c.1344-113G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=17637;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236381989;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:236218687_A_G:180,12,0
chr1	236220722	rs34880815;rs397805818;rs547545197	A	ATTT	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.73;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34880815,rs3835672;dbSNPBuildID=126,138;ANN=ATTT|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|15/15|c.1343+107_1343+109dupAAA||||||;p3_1000G_AC=2751;p3_1000G_AF=0.549321;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=14335;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236384022;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0
chr1	236220978	rs1405624	G	C	323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1405624;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|14/15|c.1210-13C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2852;p3_1000G_AF=0.569489;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=13980;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236384278;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2133,2261;ESP6500_AA_GTC=519,1095,583;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=30;ESP6500_EA_AC=3440,5152;ESP6500_EA_GTC=679,2082,1535;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236220978;ESP6500_GTC=1198,3177,2118;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.1210-13C>G;ESP6500_MAF=40.0372,48.5435,42.9154;ESP6500_TAC=5573,7413	GT:AD:DP:GQ:PL	1/1:0,10:10:30:352,30,0
chr1	236221816	rs2463190	C	T	397.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2463190;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|14/15|c.1209+108G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=16705;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236385116;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:426,36,0
chr1	236221865	rs2463189	G	C	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.28;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2463189;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|14/15|c.1209+59C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=16614;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236385165;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:236221865_G_C:1035,69,0
chr1	236221873	rs41305554	G	A	1041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41305554;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|14/15|c.1209+51C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=656;p3_1000G_AF=0.13099;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=16523;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236385173;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=263,4143;ESP6500_AA_AGE=143.1+/-178.2;ESP6500_AA_GTC=11,241,1951;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=47;ESP6500_EA_AC=259,8339;ESP6500_EA_AGE=96.6+/-158.3;ESP6500_EA_GTC=4,251,4044;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236221873;ESP6500_GTC=15,492,5995;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.1209+51C>T;ESP6500_MAF=3.0123,5.9691,4.0141;ESP6500_TAC=522,12482	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:72:1|1:236221865_G_C:1070,72,0
chr1	236222060	rs2477587	C	T	382.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.52;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2477587;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|13/15|c.1123-50G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2852;p3_1000G_AF=0.569489;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=20298;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236385360;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2149,2251;ESP6500_AA_GTC=514,1121,565;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=36;ESP6500_EA_AC=3465,5131;ESP6500_EA_GTC=684,2097,1517;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236222060;ESP6500_GTC=1198,3218,2082;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.1123-50G>A;ESP6500_MAF=40.3094,48.8409,43.1979;ESP6500_TAC=5614,7382	GT:AD:DP:GQ:PL	1/1:0,17:17:49:411,49,0
chr1	236222079	rs2463188	A	G	457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2463188;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|13/15|c.1123-69T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2852;p3_1000G_AF=0.569489;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=20097;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236385379;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:486,39,0
chr1	236226200	rs12023983	T	A	291.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12023983;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|12/15|c.1052+69A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=720;p3_1000G_AF=0.14377;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=17356;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236389500;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:320,27,0
chr1	236226559	rs35475164	AT	A	994.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=1.418;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35475164;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|11/15|c.806-45delA||||||;p3_1000G_AA=TTTTTTT|TTTTTTTT|TTTTTTT|insertion;p3_1000G_AC=720;p3_1000G_AF=0.14377;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=16739;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236389859;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1032,102,0
chr1	236226626	rs10924789	T	C	1318.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10924789;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|11/15|c.805+21A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=720;p3_1000G_AF=0.14377;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=16573;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236389926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=396,3996;ESP6500_AA_GTC=13,370,1813;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=53;ESP6500_EA_AC=251,8345;ESP6500_EA_GTC=4,243,4051;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236226626;ESP6500_GTC=17,613,5864;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.805+21A>G;ESP6500_MAF=2.92,9.0164,4.9815;ESP6500_TAC=647,12341	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1347,120,0
chr1	236226699	rs10924790	C	T	709.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10924790;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|11/16|c.753G>A|p.Ser251Ser|1009/5054|753/1404|251/467||,T|sequence_feature|LOW|ERO1B|ERO1B|binding-site:FAD|NM_019891.3|protein_coding|11/16|c.753G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=721;p3_1000G_AF=0.14397;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=17369;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236389999;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=413,3987;ESP6500_AA_AGE=187.4+/-214.1;ESP6500_AA_GTC=14,385,1801;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=-11.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=80;ESP6500_EA_AC=253,8339;ESP6500_EA_AGE=98.1+/-159.7;ESP6500_EA_GTC=4,245,4047;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:coding-synonymous;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236226699;ESP6500_GTC=18,630,5848;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.753G>A;ESP6500_HGVS_PROTEIN_VAR=NM_019891.3:p.(S251);ESP6500_MAF=2.9446,9.3864,5.1262;ESP6500_TAC=666,12326	GT:AD:DP:GQ:PL	1/1:0,23:23:69:738,69,0
chr1	236230354	rs2812471	A	G	187.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2812471;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|9/15|c.686-104T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4789;p3_1000G_AF=0.95627;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=15429;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236393654;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:216,18,0
chr1	236230387	rs12022809	T	C	116.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.01;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12022809;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|9/15|c.686-137A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=726;p3_1000G_AF=0.144968;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=14597;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236393687;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:144,12,0
chr1	236232748	rs3768097	C	A	78.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3768097;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|9/15|c.685+80G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=726;p3_1000G_AF=0.144968;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=13562;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236396048;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=126,1258;ESP6500_AA_GTC=5,116,571;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=37;ESP6500_EA_AC=95,3071;ESP6500_EA_GTC=3,89,1491;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236232748;ESP6500_GTC=8,205,2062;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.685+80G>T;ESP6500_MAF=3.0006,9.104,4.8571;ESP6500_TAC=221,4329	GT:AD:DP:GQ:PL	1/1:0,4:4:12:106,12,0
chr1	236232997	rs12406204	C	T	95.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12406204;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|8/15|c.674-158G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=730;p3_1000G_AF=0.145767;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=16636;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236396297;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:123,12,0
chr1	236236452	rs3768099	T	C	843.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.83;SOR=4.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3768099;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|6/15|c.506-54A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=726;p3_1000G_AF=0.144968;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=19275;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236399752;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:68:872,68,0
chr1	236236472	rs3768100	C	T	667.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=6.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3768100;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|6/15|c.506-74G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=614;p3_1000G_AF=0.122604;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=19841;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236399772;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:696,60,0
chr1	236269835	rs3834089	AT	A	320.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.89;SOR=0.892;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3834089;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|2/15|c.222+39delA||||||;p3_1000G_AA=-|T|-|insertion;p3_1000G_AC=4056;p3_1000G_AF=0.809904;p3_1000G_AFR_AF=0.7163;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=17353;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.8897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236433135;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=INDEL;ESP6500_AA_AC=3122,1144;ESP6500_AA_GTC=1152,818,163;ESP6500_CDS_SIZES=NM_019891.3:1404;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=46;ESP6500_EA_AC=7178,1070;ESP6500_EA_GTC=3127,924,73;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019891.3:intron;ESP6500_GL=ERO1LB;ESP6500_GRCh38_POSITION=1:236269835;ESP6500_GTC=4279,1742,236;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_019891.3:c.222+39del1;ESP6500_MAF=12.9728,26.8167,17.6922;ESP6500_TAC=10300,2214	GT:AD:DP:GQ:PL	1/1:0,9:9:27:358,27,0
chr1	236281579	rs11281666	G	GGCCCGGCCCT	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11281666,rs56307934;dbSNPBuildID=135;ANN=GGCCCGGCCCT|intron_variant|MODIFIER|ERO1B|ERO1B|transcript|NM_019891.3|protein_coding|1/15|c.102+93_102+102dupAGGGCCGGGC||||||;p3_1000G_AC=3192;p3_1000G_AF=0.63738;p3_1000G_AFR_AF=0.5265;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=12365;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.663;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236444879;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5583;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:270,18,0
chr1	236394471	rs966365;262600	G	A	956.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.14;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs966365;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|EDARADD|EDARADD|transcript|NM_145861.2|protein_coding|1/6|c.27G>A|p.Met9Ile|92/2772|27/648|9/215||,A|upstream_gene_variant|MODIFIER|EDARADD|EDARADD|transcript|NM_080738.3|protein_coding||c.-1159G>A|||||945|;p3_1000G_AA=G|||;p3_1000G_AC=3890;p3_1000G_AF=0.776757;p3_1000G_AFR_AF=0.4682;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=17810;p3_1000G_EAS_AF=0.9187;p3_1000G_EUR_AF=0.825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236557771;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2381,2025;ESP6500_AA_AGE=612.1+/-391.9;ESP6500_AA_GTC=620,1141,442;ESP6500_CDS_SIZES=NM_145861.2:648;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=139;ESP6500_EA_AC=7222,1378;ESP6500_EA_AGE=755.0+/-407.5;ESP6500_EA_GTC=3029,1164,107;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145861.2:missense;ESP6500_GL=EDARADD;ESP6500_GRCh38_POSITION=1:236394471;ESP6500_GS=10;ESP6500_GTC=3649,2305,549;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145861.2:c.27G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145861.2:p.(M9I);ESP6500_MAF=16.0233,45.9601,26.1648;ESP6500_PH=benign:0.0;ESP6500_TAC=9603,3403;CLINVAR_ALLELEID=249813;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239465;CLINVAR_CLNDN=not_specified|Hypohidrotic_Ectodermal_Dysplasia,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.236394471G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:57220|Illumina_Clinical_Services_Laboratory,Illumina:4049|UniProtKB_(protein):Q8WWZ3#VAR_050963;CLINVAR_GENEINFO=EDARADD:128178;CLINVAR_MC=SO:0001583|missense_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=966365	GT:AD:DP:GQ:PL	1/1:0,34:34:99:985,102,0
chr1	236394504	rs60808129;282055	G	A	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=0.217;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60808129;dbSNPBuildID=129;ANN=A|splice_region_variant&synonymous_variant|LOW|EDARADD|EDARADD|transcript|NM_145861.2|protein_coding|1/6|c.60G>A|p.Glu20Glu|125/2772|60/648|20/215||,A|upstream_gene_variant|MODIFIER|EDARADD|EDARADD|transcript|NM_080738.3|protein_coding||c.-1126G>A|||||912|;p3_1000G_AA=G|||;p3_1000G_AC=456;p3_1000G_AF=0.0910543;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=18154;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236557804;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=21,4385;ESP6500_AA_AGE=28.1+/-56.4;ESP6500_AA_GTC=0,21,2182;ESP6500_CDS_SIZES=NM_145861.2:648;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=133;ESP6500_EA_AC=59,8541;ESP6500_EA_AGE=36.9+/-92.0;ESP6500_EA_GTC=0,59,4241;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145861.2:coding-synonymous-near-splice;ESP6500_GL=EDARADD;ESP6500_GRCh38_POSITION=1:236394504;ESP6500_GTC=0,80,6423;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145861.2:c.60G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145861.2:p.(E20);ESP6500_MAF=0.686,0.4766,0.6151;ESP6500_TAC=80,12926;CLINVAR_AF_ESP=0.0062;CLINVAR_AF_EXAC=0.04400;CLINVAR_AF_TGP=0.0911;CLINVAR_ALLELEID=266292;CLINVAR_CLNDISDB=MedGen:C3539920,OMIM:614941|MedGen:C3541517,OMIM:614940|MedGen:CN169374|MedGen:CN239465;CLINVAR_CLNDN=Ectodermal_dysplasia_11b,_hypohidrotic/hair/tooth_type,_autosomal_recessive|Ectodermal_dysplasia_11a,_hypohidrotic/hair/tooth_type,_autosomal_dominant|not_specified|Hypohidrotic_Ectodermal_Dysplasia,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.236394504G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:99866;CLINVAR_GENEINFO=EDARADD:128178;CLINVAR_MC=SO:0001636|2KB_upstream_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=60808129	GT:AD:DP:GQ:PL	0/1:21,8:29:99:173,0,480
chr1	236394628	rs966364;439637	G	A	48.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs966364;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|EDARADD|EDARADD|transcript|NM_080738.3|protein_coding||c.-1002G>A|||||788|,A|intron_variant|MODIFIER|EDARADD|EDARADD|transcript|NM_145861.2|protein_coding|1/5|c.61+123G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3868;p3_1000G_AF=0.772364;p3_1000G_AFR_AF=0.4516;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=18165;p3_1000G_EAS_AF=0.9187;p3_1000G_EUR_AF=0.825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236557928;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;CLINVAR_ALLELEID=433521;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.236394628G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:68825;CLINVAR_GENEINFO=EDARADD:128178;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=966364	GT:AD:DP:GQ:PL	1/1:0,2:2:6:76,6,0
chr1	236482370	rs604070;262602	C	T	2239.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.55;SOR=0.84;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs604070;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|EDARADD|EDARADD|transcript|NM_145861.2|protein_coding|6/6|c.369C>T|p.Asp123Asp|434/2772|369/648|123/215||,T|synonymous_variant|LOW|EDARADD|EDARADD|transcript|NM_080738.3|protein_coding|6/6|c.339C>T|p.Asp113Asp|553/2891|339/618|113/205||,T|sequence_feature|LOW|EDARADD|EDARADD|domain:Death|NM_145861.2|protein_coding|6/6|c.369C>T||||||,T|sequence_feature|LOW|EDARADD|EDARADD|domain:Death|NM_080738.3|protein_coding|6/6|c.339C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=667;p3_1000G_AF=0.133187;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=17837;p3_1000G_EAS_AF=0.1062;p3_1000G_EUR_AF=0.2753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236645670;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=354,4052;ESP6500_AA_AGE=182.9+/-210.6;ESP6500_AA_GTC=13,328,1862;ESP6500_CDS_SIZES=NM_145861.2:648,NM_080738.3:618;ESP6500_CG=-5.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=95;ESP6500_EA_AC=2113,6487;ESP6500_EA_AGE=363.5+/-333.2;ESP6500_EA_GTC=275,1563,2462;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145861.2:coding-synonymous,NM_080738.3:coding-synonymous;ESP6500_GL=EDARADD;ESP6500_GRCh38_POSITION=1:236482370;ESP6500_GTC=288,1891,4324;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145861.2:c.369C>T,NM_080738.3:c.339C>T;ESP6500_HGVS_PROTEIN_VAR=NM_145861.2:p.(D123),NM_080738.3:p.(D113);ESP6500_MAF=24.5698,8.0345,18.9682;ESP6500_TAC=2467,10539;CLINVAR_AF_ESP=0.1897;CLINVAR_AF_EXAC=0.20239;CLINVAR_AF_TGP=0.1332;CLINVAR_ALLELEID=249816;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239465;CLINVAR_CLNDN=not_specified|Hypohidrotic_Ectodermal_Dysplasia,_Recessive;CLINVAR_CLNHGVS=NC_000001.11:g.236482370C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:57221|Illumina_Clinical_Services_Laboratory,Illumina:4114;CLINVAR_GENEINFO=EDARADD:128178;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=604070	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2268,213,0
chr1	236526268	rs2251642	A	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.015;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=-0.48;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2251642;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|LGALS8-AS1|LGALS8-AS1|transcript|NR_034040.1|pseudogene||n.-1760T>C|||||1760|,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|3/11|c.45+153A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|3/11|c.45+153A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|3/10|c.45+153A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|2/9|c.45+153A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2065;p3_1000G_AF=0.41234;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=18941;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.6292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236689568;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,6:9:60:0|1:236526268_A_G:192,0,60
chr1	236537373	rs34691668;rs62670060	GAGC	G	181.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.599;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.124;SOR=0.473;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs62670060;dbSNPBuildID=132,138;ANN=G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|3/11|c.46-121_46-119delCAG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|3/11|c.46-121_46-119delCAG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|3/10|c.46-121_46-119delCAG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|2/9|c.46-121_46-119delCAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2503;p3_1000G_AF=0.4998;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18530;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.6759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236700673;p3_1000G_GRCH37_REF=GAGC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,6:14:99:219,0,339
chr1	236537507	rs1126407	T	A	948.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.437;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.153;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.34;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1126407;dbSNPBuildID=137;ANN=A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_19-B_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_19-C_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_19-D_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_19-B_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_19-C_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_19-D_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_19-B_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_19-A_139:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_19-B_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_19-B_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_19-A_140:NM_006499.4|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_19-B_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_19-C_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_19-D_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_19-B_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_19-C_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_19-D_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_19-B_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_19-A_139:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_19-B_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_19-B_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_19-A_140:NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_19-B_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_19-C_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_19-D_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_19-B_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_19-C_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_19-D_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_19-B_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:B_19-B_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_19-B_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_19-A_139:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_19-B_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_19-B_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4FQZ:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:A_19-A_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:B_19-B_140:NM_201543.2|protein_coding|4/11|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_19-B_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_19-C_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_19-D_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_19-B_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_19-C_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_19-D_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_19-B_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:B_19-B_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_19-B_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_19-A_139:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_19-B_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_19-B_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4FQZ:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:A_19-A_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:B_19-B_140:NM_201544.2|protein_coding|3/10|c.56T>A||||||,A|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|4/12|c.56T>A|p.Phe19Tyr|437/6279|56/1080|19/359||,A|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|4/12|c.56T>A|p.Phe19Tyr|307/6149|56/1080|19/359||,A|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|4/11|c.56T>A|p.Phe19Tyr|437/6153|56/954|19/317||,A|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|3/10|c.56T>A|p.Phe19Tyr|494/6210|56/954|19/317||,A|sequence_feature|LOW|LGALS8|LGALS8|domain:Galectin_1|NM_201545.2|protein_coding|4/12|c.56T>A||||||,A|sequence_feature|LOW|LGALS8|LGALS8|domain:Galectin_1|NM_201544.2|protein_coding|3/10|c.56T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2503;p3_1000G_AF=0.4998;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18511;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236700807;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2173,2233;ESP6500_AA_AGE=592.2+/-387.7;ESP6500_AA_GTC=530,1113,560;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=98;ESP6500_EA_AC=5870,2730;ESP6500_EA_AGE=433.9+/-357.6;ESP6500_EA_GTC=2017,1836,447;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201545.2:missense,NM_201544.2:missense,NM_201543.2:missense,NM_006499.4:missense;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236537507;ESP6500_GS=22,22,22,22;ESP6500_GTC=2547,2949,1007;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.56T>A,NM_201544.2:c.56T>A,NM_201543.2:c.56T>A,NM_006499.4:c.56T>A;ESP6500_HGVS_PROTEIN_VAR=NM_201545.2:p.(F19Y),NM_201544.2:p.(F19Y),NM_201543.2:p.(F19Y),NM_006499.4:p.(F19Y);ESP6500_MAF=31.7442,49.3191,38.1593;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=8043,4963	GT:AD:DP:GQ:PL	0/1:26,40:66:99:977,0,607
chr1	236537523	rs1041934	T	C	1045.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.119;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0.949;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-1.87;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1041934;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|4/12|c.72T>C|p.Pro24Pro|453/6279|72/1080|24/359||,C|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|4/12|c.72T>C|p.Pro24Pro|323/6149|72/1080|24/359||,C|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|4/11|c.72T>C|p.Pro24Pro|453/6153|72/954|24/317||,C|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|3/10|c.72T>C|p.Pro24Pro|510/6210|72/954|24/317||;p3_1000G_AA=T|||;p3_1000G_AC=2504;p3_1000G_AF=0.5;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18298;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236700823;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2169,2237;ESP6500_AA_AGE=582.4+/-385.6;ESP6500_AA_GTC=530,1109,564;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=102;ESP6500_EA_AC=5869,2731;ESP6500_EA_AGE=681.4+/-403.7;ESP6500_EA_GTC=2017,1835,448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201545.2:coding-synonymous,NM_201544.2:coding-synonymous,NM_201543.2:coding-synonymous,NM_006499.4:coding-synonymous;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236537523;ESP6500_GTC=2547,2944,1012;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.72T>C,NM_201544.2:c.72T>C,NM_201543.2:c.72T>C,NM_006499.4:c.72T>C;ESP6500_HGVS_PROTEIN_VAR=NM_201545.2:p.(P24),NM_201544.2:p.(P24),NM_201543.2:p.(P24),NM_006499.4:p.(P24);ESP6500_MAF=31.7558,49.2283,38.1978;ESP6500_TAC=8038,4968	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1074,0,578
chr1	236537557	rs1041935	C	T	869.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.163;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.516;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1041935;dbSNPBuildID=86;ANN=T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_36-A_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_36-B_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_36-B_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_36-D_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_36-D_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_36-A_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_36-A_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_36-B_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_36-B_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_36-A_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_104:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:A_36-A_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:B_36-B_147:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:B_36-B_148:NM_006499.4|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_36-A_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_36-B_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_36-B_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_36-D_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_36-D_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_36-A_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_36-A_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_36-B_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_36-B_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_36-A_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_104:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:A_36-A_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:B_36-B_147:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:B_36-B_148:NM_201545.2|protein_coding|4/12|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_36-A_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_36-B_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_36-D_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_36-D_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:B_36-B_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:A_36-A_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_36-B_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_36-B_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_36-B_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:B_36-B_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4FQZ:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4FQZ:A_36-A_148:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:A_36-A_104:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:A_36-A_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:B_36-B_147:NM_201543.2|protein_coding|4/11|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_36-A_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_36-B_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:C_36-C_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_36-D_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP4:D_36-D_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP5:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:B_36-B_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:C_36-C_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP6:D_36-D_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP7:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3AP9:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3APB:B_36-B_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKL:B_36-B_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:A_36-A_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_36-B_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_36-B_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_36-B_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKN:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKO:B_36-B_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BMB:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4BME:B_36-B_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4FQZ:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4FQZ:A_36-A_148:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:A_36-A_104:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:A_36-A_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|4HAN:B_36-B_147:NM_201544.2|protein_coding|3/10|c.106C>T||||||,T|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|4/12|c.106C>T|p.Arg36Cys|487/6279|106/1080|36/359||,T|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|4/12|c.106C>T|p.Arg36Cys|357/6149|106/1080|36/359||,T|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|4/11|c.106C>T|p.Arg36Cys|487/6153|106/954|36/317||,T|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|3/10|c.106C>T|p.Arg36Cys|544/6210|106/954|36/317||;p3_1000G_AA=C|||;p3_1000G_AC=2504;p3_1000G_AF=0.5;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18036;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236700857;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2174,2232;ESP6500_AA_AGE=584.3+/-386.0;ESP6500_AA_GTC=530,1114,559;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=102;ESP6500_EA_AC=5868,2732;ESP6500_EA_AGE=681.7+/-403.7;ESP6500_EA_GTC=2016,1836,448;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201545.2:missense,NM_201544.2:missense,NM_201543.2:missense,NM_006499.4:missense;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236537557;ESP6500_GS=180,180,180,180;ESP6500_GTC=2546,2950,1007;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.106C>T,NM_201544.2:c.106C>T,NM_201543.2:c.106C>T,NM_006499.4:c.106C>T;ESP6500_HGVS_PROTEIN_VAR=NM_201545.2:p.(R36C),NM_201544.2:p.(R36C),NM_201543.2:p.(R36C),NM_006499.4:p.(R36C);ESP6500_MAF=31.7674,49.3418,38.167;ESP6500_PH=benign:0.42,benign:0.42,benign:0.42,benign:0.42;ESP6500_TAC=8042,4964	GT:AD:DP:GQ:PL	0/1:26,37:63:99:898,0,586
chr1	236537682	rs2737706	T	C	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.44;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=0.842;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2737706;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|4/11|c.134+97T>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|4/11|c.134+97T>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|4/10|c.134+97T>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|3/9|c.134+97T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=17566;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236700982;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:329,0,286
chr1	236538817	rs2244809	T	G	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.99;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.564;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=-0.638;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2244809;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|4/11|c.135-62T>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|4/11|c.135-62T>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|4/10|c.135-62T>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|3/9|c.135-62T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3161;p3_1000G_AF=0.63119;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=17020;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.7078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236702117;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,8:30:99:215,0,555
chr1	236538909	rs1041936	C	T	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.14;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=11.552;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.167;SOR=2.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1041936;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|5/12|c.165C>T|p.Ser55Ser|546/6279|165/1080|55/359||,T|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|5/12|c.165C>T|p.Ser55Ser|416/6149|165/1080|55/359||,T|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|5/11|c.165C>T|p.Ser55Ser|546/6153|165/954|55/317||,T|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|4/10|c.165C>T|p.Ser55Ser|603/6210|165/954|55/317||;p3_1000G_AA=C|||;p3_1000G_AC=2089;p3_1000G_AF=0.417133;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=14554;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.6014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236702209;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1228,3178;ESP6500_AA_GTC=193,842,1168;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=-2.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=58;ESP6500_EA_AC=5014,3586;ESP6500_EA_GTC=1669,1676,955;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201545.2:coding-synonymous,NM_201544.2:coding-synonymous,NM_201543.2:coding-synonymous,NM_006499.4:coding-synonymous;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236538909;ESP6500_GTC=1862,2518,2123;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.165C>T,NM_201544.2:c.165C>T,NM_201543.2:c.165C>T,NM_006499.4:c.165C>T;ESP6500_HGVS_PROTEIN_VAR=NM_201545.2:p.(S55),NM_201544.2:p.(S55),NM_201543.2:p.(S55),NM_006499.4:p.(S55);ESP6500_MAF=41.6977,27.8711,47.9932;ESP6500_TAC=6242,6764	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,11:38:99:0|1:236538909_C_T:381,0,1552
chr1	236538910	rs1041937	A	G	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.17;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=11.552;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.384;SOR=2.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1041937;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|5/12|c.166A>G|p.Met56Val|547/6279|166/1080|56/359||,G|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|5/12|c.166A>G|p.Met56Val|417/6149|166/1080|56/359||,G|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|5/11|c.166A>G|p.Met56Val|547/6153|166/954|56/317||,G|missense_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|4/10|c.166A>G|p.Met56Val|604/6210|166/954|56/317||,G|sequence_feature|LOW|LGALS8|LGALS8|turn:combinatorial_evidence_used_in_manual_assertion|NM_201545.2|protein_coding|5/12|c.166A>G||||||,G|sequence_feature|LOW|LGALS8|LGALS8|turn:combinatorial_evidence_used_in_manual_assertion|NM_201544.2|protein_coding|4/10|c.166A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3157;p3_1000G_AF=0.630391;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=14522;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.7048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236702210;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2995,1411;ESP6500_AA_GTC=1045,905,253;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=2.0;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=58;ESP6500_EA_AC=6077,2523;ESP6500_EA_GTC=2234,1609,457;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201545.2:missense,NM_201544.2:missense,NM_201543.2:missense,NM_006499.4:missense;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236538910;ESP6500_GS=21,21,21,21;ESP6500_GTC=3279,2514,710;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.166A>G,NM_201544.2:c.166A>G,NM_201543.2:c.166A>G,NM_006499.4:c.166A>G;ESP6500_HGVS_PROTEIN_VAR=NM_201545.2:p.(M56V),NM_201544.2:p.(M56V),NM_201543.2:p.(M56V),NM_006499.4:p.(M56V);ESP6500_MAF=29.3372,32.0245,30.2476;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=9072,3934	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,11:38:99:0|1:236538909_C_T:381,0,1552
chr1	236539074	rs2472126	G	A	375.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.911;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=6.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-1.625;SOR=0.548;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2472126;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|5/12|c.330G>A|p.Leu110Leu|711/6279|330/1080|110/359||,A|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|5/12|c.330G>A|p.Leu110Leu|581/6149|330/1080|110/359||,A|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|5/11|c.330G>A|p.Leu110Leu|711/6153|330/954|110/317||,A|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|4/10|c.330G>A|p.Leu110Leu|768/6210|330/954|110/317||;p3_1000G_AA=C|||;p3_1000G_AC=2170;p3_1000G_AF=0.433307;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=19869;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.6173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236702374;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1812,2594;ESP6500_AA_GTC=309,1194,700;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=5551,3049;ESP6500_EA_GTC=1747,2057,496;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201545.2:coding-synonymous,NM_201544.2:coding-synonymous,NM_201543.2:coding-synonymous,NM_006499.4:coding-synonymous;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236539074;ESP6500_GTC=2056,3251,1196;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.330G>A,NM_201544.2:c.330G>A,NM_201543.2:c.330G>A,NM_006499.4:c.330G>A;ESP6500_HGVS_PROTEIN_VAR=NM_201545.2:p.(L110),NM_201544.2:p.(L110),NM_201543.2:p.(L110),NM_006499.4:p.(L110);ESP6500_MAF=35.4535,41.1257,43.3877;ESP6500_TAC=7363,5643	GT:AD:DP:GQ:PL	0/1:18,20:38:99:404,0,513
chr1	236539147	rs12744425	T	G	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.21;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=-0.396;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12744425;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|5/11|c.345+58T>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|5/11|c.345+58T>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|5/10|c.345+58T>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|4/9|c.345+58T>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=2327;p3_1000G_AF=0.464657;p3_1000G_AFR_AF=0.4085;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=17547;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.671;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236702447;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,9:17:99:0|1:236539147_T_G:354,0,400
chr1	236539150	rs12744427	T	C	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=-0.396;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12744427;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|5/11|c.345+61T>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|5/11|c.345+61T>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|5/10|c.345+61T>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|4/9|c.345+61T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2500;p3_1000G_AF=0.499201;p3_1000G_AFR_AF=0.444;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=17382;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.6759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236702450;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.41;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,9:17:99:0|1:236539147_T_G:354,0,400
chr1	236539175	rs11807205	A	G	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.263;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11807205;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|5/11|c.345+86A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|5/11|c.345+86A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|5/10|c.345+86A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|4/9|c.345+86A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=2459;p3_1000G_AF=0.491014;p3_1000G_AFR_AF=0.4425;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=15975;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236702475;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:256,0,167
chr1	236540467	rs2758994	C	T	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.189;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2758994;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|5/11|c.346-97C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|5/11|c.346-97C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|5/10|c.346-97C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|4/9|c.346-97C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2520;p3_1000G_AF=0.503195;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=19471;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.6859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236703767;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:94:94,0,108
chr1	236540532	rs34818366;rs796090637	CG	C	210.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.07;ReadPosRankSum=-0.674;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34818366;dbSNPBuildID=126,146;ANN=C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|5/11|c.346-24delG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|5/11|c.346-24delG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|5/10|c.346-24delG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|4/9|c.346-24delG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,9:10:0:245,0,0
chr1	236541588	rs376867259	A	AACAGGT	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.2;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNPBuildID=138;ANN=AACAGGT|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|6/11|c.466-66_466-65insACAGGT||||||,AACAGGT|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|6/11|c.466-66_466-65insACAGGT||||||,AACAGGT|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|6/10|c.466-66_466-65insACAGGT||||||,AACAGGT|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|5/9|c.466-66_466-65insACAGGT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:9:1|1:236541588_A_AACAGGT:135,9,0
chr1	236541591	rs774847783	TAAA	T	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|6/11|c.466-61_466-59delAAA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|6/11|c.466-61_466-59delAAA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|6/10|c.466-61_466-59delAAA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|5/9|c.466-61_466-59delAAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:236541588_A_AACAGGT:135,9,0
chr1	236541597	rs770499714	ATT	A	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|6/11|c.466-55_466-54delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|6/11|c.466-55_466-54delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|6/10|c.466-55_466-54delTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|5/9|c.466-55_466-54delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:236541588_A_AACAGGT:135,9,0
chr1	236543052	rs2758174	A	C	584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.245;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=6.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=0.95;SOR=0.11;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2758174;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|9/11|c.675+12A>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|9/11|c.675+12A>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|8/10|c.549+265A>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|7/9|c.549+265A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17787;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236706352;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2166,2240;ESP6500_AA_AGE=581.6+/-385.4;ESP6500_AA_GTC=530,1106,567;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=1.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=67;ESP6500_EA_AC=5859,2741;ESP6500_EA_AGE=421.4+/-353.7;ESP6500_EA_GTC=2017,1825,458;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201545.2:intron,NM_201544.2:intron,NM_201543.2:intron,NM_006499.4:intron;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236543052;ESP6500_GTC=2547,2931,1025;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.675+12A>C,NM_201544.2:c.549+265A>C,NM_201543.2:c.549+265A>C,NM_006499.4:c.675+12A>C;ESP6500_MAF=31.8721,49.1602,38.2977;ESP6500_TAC=8025,4981	GT:AD:DP:GQ:PL	0/1:11,21:32:99:613,0,300
chr1	236543071	rs2758175	A	G	468.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.455;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=-0.996;SOR=0.238;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2758175;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|9/11|c.675+31A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|9/11|c.675+31A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|8/10|c.549+284A>G||||||,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|7/9|c.549+284A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17724;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236706371;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2183,2223;ESP6500_AA_AGE=561.2+/-380.7;ESP6500_AA_GTC=537,1109,557;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=5869,2731;ESP6500_EA_AGE=674.0+/-403.1;ESP6500_EA_GTC=2017,1835,448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201545.2:intron,NM_201544.2:intron,NM_201543.2:intron,NM_006499.4:intron;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236543071;ESP6500_GTC=2554,2944,1005;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.675+31A>G,NM_201544.2:c.549+284A>G,NM_201543.2:c.549+284A>G,NM_006499.4:c.675+31A>G;ESP6500_MAF=31.7558,49.5461,38.0901;ESP6500_TAC=8052,4954	GT:AD:DP:GQ:PL	0/1:9,18:27:99:497,0,257
chr1	236543125	rs2244267	G	A	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.491;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=-0.42;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2244267;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|9/11|c.675+85G>A||||||,A|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|9/11|c.675+85G>A||||||,A|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|8/10|c.549+338G>A||||||,A|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|7/9|c.549+338G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=18094;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236706425;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:247,0,153
chr1	236543480	rs2243527	C	T	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.73;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.826;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.197;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2243527;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|9/11|c.676-80C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|9/11|c.676-80C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|8/10|c.550-80C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|7/9|c.550-80C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3395;p3_1000G_AF=0.677915;p3_1000G_AFR_AF=0.7005;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=20435;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.7406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236706780;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,14:30:99:402,0,481
chr1	236543562	rs2243525	G	C	687.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.739;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0.946;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.657;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2243525;dbSNPBuildID=100;ANN=C|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_9-B_184:NM_201543.2|protein_coding|9/11|c.552G>C||||||,C|structural_interaction_variant|HIGH|LGALS8|LGALS8|interaction|3VKM:B_9-B_184:NM_201544.2|protein_coding|8/10|c.552G>C||||||,C|missense_variant&splice_region_variant|MODERATE|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|10/12|c.678G>C|p.Arg226Ser|1059/6279|678/1080|226/359||,C|missense_variant&splice_region_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|10/12|c.678G>C|p.Arg226Ser|929/6149|678/1080|226/359||,C|missense_variant&splice_region_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|9/11|c.552G>C|p.Arg184Ser|933/6153|552/954|184/317||,C|missense_variant&splice_region_variant|MODERATE|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|8/10|c.552G>C|p.Arg184Ser|990/6210|552/954|184/317||;p3_1000G_AA=C|||;p3_1000G_AC=3394;p3_1000G_AF=0.677716;p3_1000G_AFR_AF=0.7005;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=20458;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.7396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236706862;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3184,1222;ESP6500_AA_AGE=423.4+/-340.1;ESP6500_AA_GTC=1149,886,168;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=-3.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=6475,2125;ESP6500_EA_AGE=364.9+/-333.7;ESP6500_EA_GTC=2429,1617,254;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201545.2:missense,NM_201544.2:missense,NM_201543.2:missense,NM_006499.4:missense;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236543562;ESP6500_GS=110,110,110,110;ESP6500_GTC=3578,2503,422;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.678G>C,NM_201544.2:c.552G>C,NM_201543.2:c.552G>C,NM_006499.4:c.678G>C;ESP6500_HGVS_PROTEIN_VAR=NM_201545.2:p.(R226S),NM_201544.2:p.(R184S),NM_201543.2:p.(R184S),NM_006499.4:p.(R226S);ESP6500_MAF=24.7093,27.7349,25.7343;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=9659,3347	GT:AD:DP:GQ:PL	0/1:36,28:64:99:716,0,912
chr1	236543707	rs2799410	C	T	463.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.991;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.093;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2799410;dbSNPBuildID=100;ANN=T|sequence_feature|LOW|LGALS8|LGALS8|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_201545.2|protein_coding|10/11|c.764+59C>T||||||,T|sequence_feature|LOW|LGALS8|LGALS8|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_201544.2|protein_coding|8/9|c.638+59C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|10/11|c.764+59C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|10/11|c.764+59C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|9/10|c.638+59C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|8/9|c.638+59C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2150;p3_1000G_AF=0.429313;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=21139;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236707007;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,19:40:99:492,0,594
chr1	236543736	rs2794786	A	T	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.19;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.737;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=0.078;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794786;dbSNPBuildID=100;ANN=T|sequence_feature|LOW|LGALS8|LGALS8|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_201545.2|protein_coding|10/11|c.764+88A>T||||||,T|sequence_feature|LOW|LGALS8|LGALS8|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_201544.2|protein_coding|8/9|c.638+88A>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|10/11|c.764+88A>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|10/11|c.764+88A>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|9/10|c.638+88A>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|8/9|c.638+88A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19670;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236707036;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,13:28:99:0|1:236543736_A_T:482,0,790
chr1	236543745	rs2799409	C	T	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.418;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=-0.447;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2799409;dbSNPBuildID=100;ANN=T|sequence_feature|LOW|LGALS8|LGALS8|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_201545.2|protein_coding|10/11|c.764+97C>T||||||,T|sequence_feature|LOW|LGALS8|LGALS8|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_201544.2|protein_coding|8/9|c.638+97C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|10/11|c.764+97C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|10/11|c.764+97C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|9/10|c.638+97C>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|8/9|c.638+97C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2506;p3_1000G_AF=0.500399;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19219;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236707045;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,12:24:99:0|1:236543736_A_T:451,0,763
chr1	236544722	rs556048936;rs5781896;rs796261350	GT	G	86.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.778;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.259;SOR=1.255;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5781896;dbSNPBuildID=126,142,146;ANN=G|sequence_feature|LOW|LGALS8|LGALS8|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_201545.2|protein_coding|10/11|c.765-27delT||||||,G|sequence_feature|LOW|LGALS8|LGALS8|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_201544.2|protein_coding|8/9|c.639-27delT||||||,G|downstream_gene_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding||c.*6179delA|||||4282|,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|10/11|c.765-17delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|10/11|c.765-17delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|9/10|c.639-17delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|8/9|c.639-17delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,5:8:91:124,0,91
chr1	236544924	rs2244063	A	C	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.275;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.771;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2244063;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding||c.*5978T>G|||||4081|,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|11/11|c.930+9A>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|11/11|c.930+9A>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|10/10|c.804+9A>C||||||,C|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|9/9|c.804+9A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19251;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236708224;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2172,2234;ESP6500_AA_AGE=563.4+/-381.2;ESP6500_AA_GTC=530,1112,561;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=60;ESP6500_EA_AC=5868,2732;ESP6500_EA_AGE=678.2+/-403.4;ESP6500_EA_GTC=2017,1834,449;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201545.2:intron,NM_201544.2:intron,NM_201543.2:intron,NM_006499.4:intron;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236544924;ESP6500_GTC=2547,2946,1010;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.930+9A>C,NM_201544.2:c.804+9A>C,NM_201543.2:c.804+9A>C,NM_006499.4:c.930+9A>C;ESP6500_MAF=31.7674,49.2964,38.1824;ESP6500_TAC=8040,4966	GT:AD:DP:GQ:PL	0/1:5,9:14:99:232,0,118
chr1	236547997	rs2254823	A	T	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.288;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=-1.512;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2254823;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding||c.*2905T>A|||||1008|,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|11/11|c.931-15A>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|11/11|c.931-15A>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|10/10|c.805-15A>T||||||,T|intron_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|9/9|c.805-15A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2506;p3_1000G_AF=0.500399;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=22226;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236711297;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2173,2233;ESP6500_AA_AGE=593.0+/-387.9;ESP6500_AA_GTC=531,1111,561;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=97;ESP6500_EA_AC=5869,2731;ESP6500_EA_AGE=434.1+/-357.6;ESP6500_EA_GTC=2017,1835,448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201545.2:intron,NM_201544.2:intron,NM_201543.2:intron,NM_006499.4:intron;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236547997;ESP6500_GTC=2548,2946,1009;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.931-15A>T,NM_201544.2:c.805-15A>T,NM_201543.2:c.805-15A>T,NM_006499.4:c.931-15A>T;ESP6500_MAF=31.7558,49.3191,38.167;ESP6500_TAC=8042,4964	GT:AD:DP:GQ:PL	0/1:9,19:28:99:491,0,200
chr1	236548023	rs15701	T	C	549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.527;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=1.88;SOR=0.807;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs15701;dbSNPBuildID=102;ANN=C|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|12/12|c.942T>C|p.Tyr314Tyr|1323/6279|942/1080|314/359||,C|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|12/12|c.942T>C|p.Tyr314Tyr|1193/6149|942/1080|314/359||,C|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|11/11|c.816T>C|p.Tyr272Tyr|1197/6153|816/954|272/317||,C|synonymous_variant|LOW|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|10/10|c.816T>C|p.Tyr272Tyr|1254/6210|816/954|272/317||,C|downstream_gene_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding||c.*2879A>G|||||982|;p3_1000G_AA=T|||;p3_1000G_AC=2506;p3_1000G_AF=0.500399;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=22107;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236711323;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2171,2235;ESP6500_AA_AGE=583.9+/-385.9;ESP6500_AA_GTC=530,1111,562;ESP6500_CDS_SIZES=NM_201545.2:1080,NM_201544.2:954,NM_201543.2:954,NM_006499.4:1080;ESP6500_CG=-3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=112;ESP6500_EA_AC=5869,2731;ESP6500_EA_AGE=681.6+/-403.7;ESP6500_EA_GTC=2017,1835,448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201545.2:coding-synonymous,NM_201544.2:coding-synonymous,NM_201543.2:coding-synonymous,NM_006499.4:coding-synonymous;ESP6500_GL=LGALS8;ESP6500_GRCh38_POSITION=1:236548023;ESP6500_GTC=2547,2946,1010;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201545.2:c.942T>C,NM_201544.2:c.816T>C,NM_201543.2:c.816T>C,NM_006499.4:c.942T>C;ESP6500_HGVS_PROTEIN_VAR=NM_201545.2:p.(Y314),NM_201544.2:p.(Y272),NM_201543.2:p.(Y272),NM_006499.4:p.(Y314);ESP6500_MAF=31.7558,49.2737,38.1824;ESP6500_TAC=8040,4966	GT:AD:DP:GQ:PL	0/1:11,21:32:99:578,0,248
chr1	236550764	rs6989	A	C	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6989;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding|12/12|c.*2603A>C|||||2603|,C|3_prime_UTR_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|45/45|c.*138T>G|||||138|,C|3_prime_UTR_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding|12/12|c.*2603A>C|||||2603|,C|3_prime_UTR_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding|11/11|c.*2603A>C|||||2603|,C|3_prime_UTR_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding|10/10|c.*2603A>C|||||2603|;p3_1000G_AA=A|||;p3_1000G_AC=2489;p3_1000G_AF=0.497005;p3_1000G_AFR_AF=0.4342;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17071;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236714064;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:37:71,0,37
chr1	236553659	rs2275685	C	T	808.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.238;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.13;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275685;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|43/45|c.6159G>A|p.Ser2053Ser|6311/8484|6159/6435|2053/2144||,T|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*5498C>T|||||680|,T|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*5498C>T|||||680|,T|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*5498C>T|||||680|,T|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*5498C>T|||||680|;p3_1000G_AA=c|||;p3_1000G_AC=2427;p3_1000G_AF=0.484625;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=19061;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236716959;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1951,2455;ESP6500_AA_AGE=552.6+/-378.6;ESP6500_AA_GTC=430,1091,682;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-10.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=144;ESP6500_EA_AC=5869,2731;ESP6500_EA_AGE=681.7+/-403.7;ESP6500_EA_GTC=2017,1835,448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:coding-synonymous;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236553659;ESP6500_GTC=2447,2926,1130;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.6159G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(S2053);ESP6500_MAF=31.7558,44.2805,39.8739;ESP6500_TAC=7820,5186	GT:AD:DP:GQ:PL	0/1:48,37:85:99:837,0,1161
chr1	236553804	rs2275686	A	G	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=1.33;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275686;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*5643A>G|||||825|,G|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*5643A>G|||||825|,G|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*5643A>G|||||825|,G|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*5643A>G|||||825|,G|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|42/44|c.6079-65T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19761;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236717104;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:171,0,288
chr1	236554626	rs2275687	T	C	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.397;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=5.756;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.857;SOR=0.515;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275687;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|42/45|c.6050A>G|p.Glu2017Gly|6202/8484|6050/6435|2017/2144||,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*6465T>C|||||1647|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*6465T>C|||||1647|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*6465T>C|||||1647|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*6465T>C|||||1647|;p3_1000G_AA=T|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17003;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236717926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1951,2455;ESP6500_AA_AGE=552.1+/-378.4;ESP6500_AA_GTC=430,1091,682;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=91;ESP6500_EA_AC=5871,2729;ESP6500_EA_AGE=681.9+/-403.8;ESP6500_EA_GTC=2018,1835,447;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018072.5:missense;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236554626;ESP6500_GS=98;ESP6500_GTC=2448,2926,1129;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.6050A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(E2017G);ESP6500_MAF=31.7326,44.2805,39.8585;ESP6500_PH=probably-damaging:0.996;ESP6500_TAC=7822,5184	GT:AD:DP:GQ:PL	0/1:6,7:13:99:188,0,186
chr1	236555261	rs6668926	G	A	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.05;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.444;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6668926;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*7100G>A|||||2282|,A|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*7100G>A|||||2282|,A|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*7100G>A|||||2282|,A|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*7100G>A|||||2282|,A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|41/44|c.5923+35C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2427;p3_1000G_AF=0.484625;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=20408;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236718561;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1950,2456;ESP6500_AA_AGE=551.2+/-378.2;ESP6500_AA_GTC=429,1092,682;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=103;ESP6500_EA_AC=5871,2729;ESP6500_EA_AGE=680.4+/-403.6;ESP6500_EA_GTC=2018,1835,447;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236555261;ESP6500_GTC=2447,2927,1129;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.5923+35C>T;ESP6500_MAF=31.7326,44.2578,39.8662;ESP6500_TAC=7821,5185	GT:AD:DP:GQ:PL	0/1:8,7:15:99:201,0,259
chr1	236555320	rs1126627	T	C	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=1.3;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1126627;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|41/45|c.5899A>G|p.Asn1967Asp|6051/8484|5899/6435|1967/2144||,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*7159T>C|||||2341|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*7159T>C|||||2341|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*7159T>C|||||2341|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*7159T>C|||||2341|;p3_1000G_AA=T|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=20405;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236718620;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1952,2454;ESP6500_AA_AGE=552.4+/-378.5;ESP6500_AA_GTC=431,1090,682;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=122;ESP6500_EA_AC=5871,2729;ESP6500_EA_AGE=681.9+/-403.8;ESP6500_EA_GTC=2018,1835,447;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018072.5:missense;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236555320;ESP6500_GS=23;ESP6500_GTC=2449,2925,1129;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.5899A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(N1967D);ESP6500_MAF=31.7326,44.3032,39.8508;ESP6500_PH=possibly-damaging:0.465;ESP6500_TAC=7823,5183	GT:AD:DP:GQ:PL	0/1:12,10:22:99:324,0,311
chr1	236555835	rs1885532	T	C	1647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.33;SOR=1.298;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1885532;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|39/45|c.5619A>G|p.Glu1873Glu|5771/8484|5619/6435|1873/2144||,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*7674T>C|||||2856|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*7674T>C|||||2856|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*7674T>C|||||2856|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*7674T>C|||||2856|;p3_1000G_AA=C|||;p3_1000G_AC=4372;p3_1000G_AF=0.873003;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DP=19133;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.8022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236719135;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3866,540;ESP6500_AA_AGE=243.7+/-253.3;ESP6500_AA_GTC=1692,482,29;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=116;ESP6500_EA_AC=7069,1531;ESP6500_EA_AGE=284.0+/-296.4;ESP6500_EA_GTC=2902,1265,133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:coding-synonymous;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236555835;ESP6500_GTC=4594,1747,162;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.5619A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(E1873);ESP6500_MAF=17.8023,12.256,15.9234;ESP6500_TAC=10935,2071	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1676,144,0
chr1	236555893	rs1885533	A	G	590.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=3.933;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.018;SOR=0.894;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1885533;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|39/45|c.5561T>C|p.Val1854Ala|5713/8484|5561/6435|1854/2144||,G|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*7732A>G|||||2914|,G|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*7732A>G|||||2914|,G|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*7732A>G|||||2914|,G|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*7732A>G|||||2914|;p3_1000G_AA=A|||;p3_1000G_AC=2429;p3_1000G_AF=0.485024;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19236;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236719193;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1951,2455;ESP6500_AA_AGE=552.6+/-378.6;ESP6500_AA_GTC=430,1091,682;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=137;ESP6500_EA_AC=5871,2729;ESP6500_EA_AGE=682.0+/-403.8;ESP6500_EA_GTC=2018,1835,447;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018072.5:missense;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236555893;ESP6500_GS=64;ESP6500_GTC=2448,2926,1129;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.5561T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(V1854A);ESP6500_MAF=31.7326,44.2805,39.8585;ESP6500_PH=benign:0.002;ESP6500_TAC=7822,5184	GT:AD:DP:GQ:PL	0/1:28,24:52:99:619,0,696
chr1	236555959	rs1885534	G	A	557.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.246;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=1.32;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1885534;dbSNPBuildID=92;ANN=A|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*7798G>A|||||2980|,A|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*7798G>A|||||2980|,A|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*7798G>A|||||2980|,A|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*7798G>A|||||2980|,A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|38/44|c.5515-20C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1753;p3_1000G_AF=0.35004;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=21831;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.6233;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236719259;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=559,3847;ESP6500_AA_AGE=247.8+/-255.9;ESP6500_AA_GTC=44,471,1688;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=121;ESP6500_EA_AC=5356,3244;ESP6500_EA_AGE=649.6+/-400.6;ESP6500_EA_GTC=1691,1974,635;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236555959;ESP6500_GTC=1735,2445,2323;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.5515-20C>T;ESP6500_MAF=37.7209,12.6872,45.479;ESP6500_TAC=5915,7091	GT:AD:DP:GQ:PL	0/1:19,20:39:99:586,0,579
chr1	236557461	rs2799404	T	C	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.389;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2799404;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_006499.4|protein_coding||c.*9300T>C|||||4482|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201545.2|protein_coding||c.*9300T>C|||||4482|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201543.2|protein_coding||c.*9300T>C|||||4482|,C|downstream_gene_variant|MODIFIER|LGALS8|LGALS8|transcript|NM_201544.2|protein_coding||c.*9300T>C|||||4482|,C|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|36/44|c.5205-116A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3079;p3_1000G_AF=0.614816;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=24155;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.7078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236720761;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:211,0,139
chr1	236558310	rs2275688	G	A	440.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=8.012;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.81;SOR=2.336;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275688;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|36/45|c.5131C>T|p.Leu1711Leu|5283/8484|5131/6435|1711/2144||;p3_1000G_AA=G|||;p3_1000G_AC=3079;p3_1000G_AF=0.614816;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=17739;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.7078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236721610;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2805,1601;ESP6500_AA_AGE=664.3+/-401.3;ESP6500_AA_GTC=893,1019,291;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-11.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=103;ESP6500_EA_AC=6207,2393;ESP6500_EA_AGE=701.1+/-405.2;ESP6500_EA_GTC=2236,1735,329;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:coding-synonymous;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236558310;ESP6500_GTC=3129,2754,620;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.5131C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(L1711);ESP6500_MAF=27.8256,36.3368,30.7089;ESP6500_TAC=9012,3994	GT:AD:DP:GQ:PL	0/1:27,16:43:99:469,0,754
chr1	236558360	rs2275689	T	C	993.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.23;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=14.341;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=0.019;SOR=2.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275689;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|36/45|c.5081A>G|p.Asn1694Ser|5233/8484|5081/6435|1694/2144||;p3_1000G_AA=C|||;p3_1000G_AC=3392;p3_1000G_AF=0.677316;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=20238;p3_1000G_EAS_AF=0.6825;p3_1000G_EUR_AF=0.7406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236721660;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3187,1219;ESP6500_AA_AGE=423.6+/-340.2;ESP6500_AA_GTC=1151,885,167;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=136;ESP6500_EA_AC=6475,2125;ESP6500_EA_AGE=365.6+/-334.0;ESP6500_EA_GTC=2429,1617,254;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018072.5:missense;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236558360;ESP6500_GS=46;ESP6500_GTC=3580,2502,421;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.5081A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(N1694S);ESP6500_MAF=24.7093,27.6668,25.7112;ESP6500_PH=benign:0.0;ESP6500_TAC=9662,3344	GT:AD:DP:GQ:PL	0/1:33,30:63:99:1022,0,903
chr1	236558882	rs819432	A	T	120.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs819432;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|35/44|c.4911+113T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19708;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236722182;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:148,12,0
chr1	236559189	rs2146122	C	T	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=-1.036;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2146122;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|34/44|c.4771-54G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3083;p3_1000G_AF=0.615615;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=17010;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.7097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236722489;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:62:62,0,112
chr1	236559877	rs10754576	G	A	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.461;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=1.51;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10754576;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|33/44|c.4647-40C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2149;p3_1000G_AF=0.429113;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=15897;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236723177;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1178,3228;ESP6500_AA_GTC=202,774,1227;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=52;ESP6500_EA_AC=5131,3469;ESP6500_EA_GTC=1784,1563,953;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236559877;ESP6500_GTC=1986,2337,2180;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.4647-40C>T;ESP6500_MAF=40.3372,26.7363,48.5084;ESP6500_TAC=6309,6697	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,7:14:99:0|1:236559877_G_A:273,0,347
chr1	236559878	rs10754577	C	A	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.465;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=5.756;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.83;ReadPosRankSum=1.12;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10754577;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|33/44|c.4647-41G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2149;p3_1000G_AF=0.429113;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=16012;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236723178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1178,3228;ESP6500_AA_GTC=201,776,1226;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=51;ESP6500_EA_AC=5131,3469;ESP6500_EA_GTC=1784,1563,953;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236559878;ESP6500_GTC=1985,2339,2179;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.4647-41G>T;ESP6500_MAF=40.3372,26.7363,48.5084;ESP6500_TAC=6309,6697	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,7:13:99:0|1:236559877_G_A:273,0,347
chr1	236561204	rs1077439	G	A	596.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.148;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.293;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-0.388;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1077439;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|33/44|c.4646+21C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2899;p3_1000G_AF=0.578874;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=17599;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.7078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236724504;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2188,2218;ESP6500_AA_AGE=563.5+/-381.2;ESP6500_AA_GTC=558,1072,573;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=58;ESP6500_EA_AC=6177,2423;ESP6500_EA_AGE=375.9+/-337.9;ESP6500_EA_GTC=2224,1729,347;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236561204;ESP6500_GTC=2782,2801,920;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.4646+21C>T;ESP6500_MAF=28.1744,49.6596,35.6835;ESP6500_TAC=8365,4641	GT:AD:DP:GQ:PL	0/1:15,23:38:99:625,0,346
chr1	236561305	rs1077438	G	T	626.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.795;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.894;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.976;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1077438;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|32/44|c.4600-34C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2898;p3_1000G_AF=0.578674;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=17832;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.7078;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236724605;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2202,2204;ESP6500_AA_AGE=585.4+/-386.2;ESP6500_AA_GTC=558,1086,559;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=88;ESP6500_EA_AC=6187,2411;ESP6500_EA_AGE=395.9+/-345.2;ESP6500_EA_GTC=2223,1741,335;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236561305;ESP6500_GTC=2781,2827,894;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.4600-34C>A;ESP6500_MAF=28.0414,49.9773,35.4891;ESP6500_TAC=8389,4615	GT:AD:DP:GQ:PL	0/1:13,30:43:99:655,0,336
chr1	236561415	rs1077437	T	G	279.98	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.11;ReadPosRankSum=0;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1077437;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|32/44|c.4600-144A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2899;p3_1000G_AF=0.578874;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=18979;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.7078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236724715;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,8:9:13:308,0,13
chr1	236572639	rs2853602	T	C	676.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.387;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.657;SOR=0.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2853602;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|25/44|c.3564-85A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=21683;p3_1000G_EAS_AF=0.4712;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236735939;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,25:49:99:705,0,682
chr1	236576739	rs6658793	G	C	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.528;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=2.22;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6658793;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|21/44|c.2925+41C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2802;p3_1000G_AF=0.559505;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=18642;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236740039;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2105,2301;ESP6500_AA_AGE=599.9+/-389.4;ESP6500_AA_GTC=504,1097,602;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=64;ESP6500_EA_AC=6155,2445;ESP6500_EA_AGE=401.7+/-347.2;ESP6500_EA_GTC=2195,1765,340;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236576739;ESP6500_GTC=2699,2862,942;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.2925+41C>G;ESP6500_MAF=28.4302,47.7758,36.4909;ESP6500_TAC=8260,4746	GT:AD:DP:GQ:PL	0/1:6,13:19:99:388,0,127
chr1	236581412	rs4518892	C	A	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.713;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.348;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4518892;dbSNPBuildID=111;ANN=A|splice_region_variant&synonymous_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|20/45|c.2565G>T|p.Val855Val|2717/8484|2565/6435|855/2144||;p3_1000G_AA=C|||;p3_1000G_AC=2077;p3_1000G_AF=0.414736;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=15230;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.671;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236744712;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=957,3449;ESP6500_AA_AGE=357.9+/-314.1;ESP6500_AA_GTC=115,727,1361;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=59;ESP6500_EA_AC=5825,2775;ESP6500_EA_AGE=677.2+/-403.4;ESP6500_EA_GTC=1977,1871,452;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:coding-synonymous;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236581412;ESP6500_GTC=2092,2598,1813;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.2565G>T;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(V855);ESP6500_MAF=32.2674,21.7204,47.8548;ESP6500_TAC=6782,6224	GT:AD:DP:GQ:PL	0/1:10,6:16:99:178,0,288
chr1	236582975	rs2794769	G	C	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.94;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=4.364;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=0;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794769;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|18/44|c.2425+38C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2597;p3_1000G_AF=0.51857;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=20724;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.6849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236746275;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1622,2784;ESP6500_AA_AGE=488.0+/-361.1;ESP6500_AA_GTC=297,1028,878;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=5926,2674;ESP6500_EA_AGE=680.7+/-403.7;ESP6500_EA_GTC=2045,1836,419;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236582975;ESP6500_GTC=2342,2864,1297;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.2425+38C>G;ESP6500_MAF=31.093,36.8134,41.9652;ESP6500_TAC=7548,5458	GT:AD:DP:GQ:PL	0/1:24,21:45:99:499,0,690
chr1	236583143	rs2794768	C	T	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.776;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=1.17;SOR=0.868;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794768;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|18/45|c.2295G>A|p.Val765Val|2447/8484|2295/6435|765/2144||;p3_1000G_AA=C|||;p3_1000G_AC=2597;p3_1000G_AF=0.51857;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=18399;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.6849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236746443;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1621,2785;ESP6500_AA_AGE=498.9+/-364.3;ESP6500_AA_GTC=296,1029,878;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=165;ESP6500_EA_AC=5926,2674;ESP6500_EA_AGE=685.1+/-404.0;ESP6500_EA_GTC=2045,1836,419;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:coding-synonymous;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236583143;ESP6500_GTC=2341,2865,1297;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.2295G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(V765);ESP6500_MAF=31.093,36.7907,41.9729;ESP6500_TAC=7547,5459	GT:AD:DP:GQ:PL	0/1:14,5:19:99:100,0,468
chr1	236585205	rs1006456	T	C	450.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.41;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.47;SOR=1.119;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1006456;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|17/45|c.2061A>G|p.Leu687Leu|2213/8484|2061/6435|687/2144||;p3_1000G_AA=T|||;p3_1000G_AC=2597;p3_1000G_AF=0.51857;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=18001;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.6849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236748505;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1622,2784;ESP6500_AA_AGE=498.9+/-364.3;ESP6500_AA_GTC=296,1030,877;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=0.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=101;ESP6500_EA_AC=5924,2676;ESP6500_EA_AGE=684.6+/-404.0;ESP6500_EA_GTC=2043,1838,419;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:coding-synonymous;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236585205;ESP6500_GTC=2339,2868,1296;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.2061A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(L687);ESP6500_MAF=31.1163,36.8134,41.9806;ESP6500_TAC=7546,5460	GT:AD:DP:GQ:PL	0/1:15,15:30:99:479,0,385
chr1	236585722	rs10925166	G	A	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.04;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10925166;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|16/44|c.2049+98C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2597;p3_1000G_AF=0.51857;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=15121;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.6849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236749022;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:236585722_G_A:75,0,197
chr1	236585726	rs10925167	T	A	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=1.47;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10925167;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|16/44|c.2049+94A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2548;p3_1000G_AF=0.508786;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=14956;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.6511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236749026;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:40:40,0,251
chr1	236586048	rs2794764	C	T	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.902;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-1.368;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794764;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|15/44|c.1928-107G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2597;p3_1000G_AF=0.51857;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=16715;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.6849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236749348;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:101,0,149
chr1	236586349	rs2794763	T	C	1056.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.677;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=3.02;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.734;SOR=1.055;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794763;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|15/45|c.1819A>G|p.Met607Val|1971/8484|1819/6435|607/2144||;p3_1000G_AA=T|||;p3_1000G_AC=1848;p3_1000G_AF=0.36901;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=17902;p3_1000G_EAS_AF=0.4712;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236749649;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=561,3845;ESP6500_AA_AGE=246.8+/-255.3;ESP6500_AA_GTC=45,471,1687;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=106;ESP6500_EA_AC=5371,3227;ESP6500_EA_AGE=649.3+/-400.6;ESP6500_EA_GTC=1688,1995,616;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018072.5:missense;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236586349;ESP6500_GS=21;ESP6500_GTC=1733,2466,2303;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.1819A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(M607V);ESP6500_MAF=37.532,12.7326,45.6167;ESP6500_PH=possibly-damaging:0.584;ESP6500_TAC=5932,7072	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1085,0,847
chr1	236586517	rs2799420	C	T	362.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.584;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.067;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2799420;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|14/44|c.1716-65G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2597;p3_1000G_AF=0.51857;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=16329;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.6849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236749817;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,14:24:99:391,0,355
chr1	236592127	rs2794759	A	G	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.392;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.349;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794759;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|10/44|c.1305-17T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2802;p3_1000G_AF=0.559505;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=16946;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.6998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236755427;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1725,2677;ESP6500_AA_AGE=598.6+/-389.1;ESP6500_AA_GTC=341,1043,817;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=63;ESP6500_EA_AC=6150,2450;ESP6500_EA_AGE=381.8+/-340.2;ESP6500_EA_GTC=2196,1758,346;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236592127;ESP6500_GTC=2537,2801,1163;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.1305-17T>C;ESP6500_MAF=28.4884,39.1867,39.4324;ESP6500_TAC=7875,5127	GT:AD:DP:GQ:PL	0/1:6,6:12:99:152,0,159
chr1	236592390	rs2794758	G	A	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.524;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794758;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|10/44|c.1304+133C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2803;p3_1000G_AF=0.559704;p3_1000G_AFR_AF=0.3298;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=15782;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236755690;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:58:93,0,58
chr1	236592514	rs2794757	G	A	55.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=0.787;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794757;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|10/44|c.1304+9C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2801;p3_1000G_AF=0.559305;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=16848;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236755814;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1701,2687;ESP6500_AA_GTC=340,1021,833;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=6086,2478;ESP6500_EA_GTC=2179,1728,375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:intron;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236592514;ESP6500_GTC=2519,2749,1208;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.1304+9C>T;ESP6500_MAF=28.9351,38.7648,39.878;ESP6500_TAC=7787,5165	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,3:17:84:0|1:236592514_G_A:84,0,756
chr1	236592537	rs2564739	C	T	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.32;ReadPosRankSum=-0.572;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2564739;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|10/45|c.1290G>A|p.Arg430Arg|1442/8484|1290/6435|430/2144||;p3_1000G_AA=C|||;p3_1000G_AC=2802;p3_1000G_AF=0.559505;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=17465;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.6998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236755837;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1698,2694;ESP6500_AA_GTC=336,1026,834;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=6104,2470;ESP6500_EA_GTC=2183,1738,366;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:coding-synonymous;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236592537;ESP6500_GTC=2519,2764,1200;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.1290G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(R430);ESP6500_MAF=28.808,38.6612,39.8272;ESP6500_TAC=7802,5164	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,4:18:99:0|1:236592514_G_A:106,0,753
chr1	236592637	rs67239913;rs562513145	TA	T	26.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.82;ReadPosRankSum=2.19;SOR=0.086;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs67239913;dbSNPBuildID=134;ANN=T|splice_region_variant&intron_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|9/44|c.1194-5delT||||||;p3_1000G_AC=2739;p3_1000G_AF=0.546925;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=19509;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.6819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236755937;p3_1000G_GRCH37_REF=TA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,3:7:64:64,0,92
chr1	236593929	rs2794754	G	A	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.712;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=0.431;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794754;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|9/44|c.1193+83C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2802;p3_1000G_AF=0.559505;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=17497;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236757229;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:56:56,0,163
chr1	236595587	rs2794751	T	C	427.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.047;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.057;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-1.924;SOR=0.521;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794751;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|8/45|c.1043A>G|p.His348Arg|1195/8484|1043/6435|348/2144||;p3_1000G_AA=C|||;p3_1000G_AC=2802;p3_1000G_AF=0.559505;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=17059;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.6998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236758887;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1723,2683;ESP6500_AA_AGE=650.4+/-399.0;ESP6500_AA_GTC=336,1051,816;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=100;ESP6500_EA_AC=6153,2447;ESP6500_EA_AGE=402.8+/-347.6;ESP6500_EA_GTC=2194,1765,341;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018072.5:missense;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236595587;ESP6500_GS=29;ESP6500_GTC=2530,2816,1157;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.1043A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(H348R);ESP6500_MAF=28.4535,39.1058,39.4433;ESP6500_PH=benign:0.0;ESP6500_TAC=7876,5130	GT:AD:DP:GQ:PL	0/1:32,22:54:99:456,0,732
chr1	236595760	rs2794750	T	C	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=2.06;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794750;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|7/44|c.956+73A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2757;p3_1000G_AF=0.550519;p3_1000G_AFR_AF=0.3177;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=16720;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.6849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236759060;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:147,0,133
chr1	236597068	rs2564737	T	C	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.56;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.398;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2564737;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|5/44|c.604-92A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2183;p3_1000G_AF=0.435903;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=14144;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236760368;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:172,0,286
chr1	236603876	rs1529541	C	G	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.453;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-1.856;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1529541;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|2/44|c.142+78G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2146;p3_1000G_AF=0.428514;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=17281;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.6312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236767176;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:236603876_C_G:151,0,249
chr1	236603878	rs375752396;rs5781902;rs772402386	AG	A	113.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.71;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs375752396,rs5781902;dbSNPBuildID=126,144,138;ANN=A|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|2/44|c.142+75delC||||||;p3_1000G_AA=?|GGGG|GGG|unsure;p3_1000G_AC=2778;p3_1000G_AF=0.554712;p3_1000G_AFR_AF=0.4062;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=17199;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.6282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236767178;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:236603876_C_G:151,0,249
chr1	236603882	rs1491339221;rs560195028	G	GA	12.01	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=0.755;SOR=0.446;INS;HET;VARTYPE=INS;dbSNPBuildID=151,142;ANN=GA|intron_variant|MODIFIER|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|2/44|c.142+71dupT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,3:10:49:1|0:236603876_C_G:49,0,225
chr1	236604030	rs10802551	A	G	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.415;SOR=0.671;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10802551;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|HEATR1|HEATR1|transcript|NM_018072.5|protein_coding|2/45|c.66T>C|p.Ser22Ser|218/8484|66/6435|22/2144||;p3_1000G_AA=A|||;p3_1000G_AC=2921;p3_1000G_AF=0.583267;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=16664;p3_1000G_EAS_AF=0.752;p3_1000G_EUR_AF=0.6928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236767330;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1756,2650;ESP6500_AA_AGE=521.4+/-370.5;ESP6500_AA_GTC=348,1060,795;ESP6500_CDS_SIZES=NM_018072.5:6435;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=73;ESP6500_EA_AC=6065,2535;ESP6500_EA_AGE=692.7+/-404.6;ESP6500_EA_GTC=2134,1797,369;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018072.5:coding-synonymous;ESP6500_GL=HEATR1;ESP6500_GRCh38_POSITION=1:236604030;ESP6500_GTC=2482,2857,1164;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018072.5:c.66T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018072.5:p.(S22);ESP6500_MAF=29.4767,39.8547,39.8662;ESP6500_TAC=7821,5185	GT:AD:DP:GQ:PL	0/1:16,18:34:99:486,0,344
chr1	236718810	rs1341865	G	A	610.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.93;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1341865;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|2/20|c.242-84G>A||||||,A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|2/20|c.242-84G>A||||||,A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|2/22|c.-580-84G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4971;p3_1000G_AF=0.992612;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20612;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236882110;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:639,54,0
chr1	236719003	rs1341864;43937	T	C	1127.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1341864;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|3/21|c.351T>C|p.Ile117Ile|571/4913|351/2685|117/894||,C|synonymous_variant|LOW|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|3/21|c.351T>C|p.Ile117Ile|571/4913|351/2685|117/894||,C|5_prime_UTR_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|3/23|c.-471T>C|||||16670|;p3_1000G_AA=C|||;p3_1000G_AC=4971;p3_1000G_AF=0.992612;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20349;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236882303;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4307,99;ESP6500_AA_AGE=80.4+/-118.8;ESP6500_AA_GTC=2104,99,0;ESP6500_CDS_SIZES=NM_001103.2:2685;ESP6500_CG=-1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=127;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001103.2:coding-synonymous;ESP6500_GL=ACTN2;ESP6500_GRCh38_POSITION=1:236719003;ESP6500_GTC=6402,101,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001103.2:c.351T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001103.2:p.(I117);ESP6500_MAF=0.0233,2.2469,0.7766;ESP6500_TAC=12905,101;CLINVAR_ALLELEID=53106;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.236719003T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ACTN2:88;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1341864	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1156,111,0
chr1	236720121	rs1341863;43938	C	T	1584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1341863;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|4/21|c.378C>T|p.Asn126Asn|598/4913|378/2685|126/894||,T|synonymous_variant|LOW|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|4/21|c.378C>T|p.Asn126Asn|598/4913|378/2685|126/894||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|4/23|c.-444C>T||||||,T|5_prime_UTR_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|4/23|c.-444C>T|||||15552|;p3_1000G_AA=C|||;p3_1000G_AC=4611;p3_1000G_AF=0.920727;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=18511;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236883421;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3636,770;ESP6500_AA_AGE=753.4+/-412.4;ESP6500_AA_GTC=1508,620,75;ESP6500_CDS_SIZES=NM_001103.2:2685;ESP6500_CG=-5.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=121;ESP6500_EA_AC=8560,40;ESP6500_EA_AGE=817.7+/-406.9;ESP6500_EA_GTC=4260,40,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001103.2:coding-synonymous;ESP6500_GL=ACTN2;ESP6500_GRCh38_POSITION=1:236720121;ESP6500_GTC=5768,660,75;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001103.2:c.378C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001103.2:p.(N126);ESP6500_MAF=0.4651,17.4762,6.2279;ESP6500_TAC=12196,810;CLINVAR_ALLELEID=53107;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.236720121C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ACTN2:88;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1341863	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1613,162,0
chr1	236720264	rs1341862	G	A	533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.08;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1341862;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|4/20|c.448+73G>A||||||,A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|4/20|c.448+73G>A||||||,A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|4/22|c.-374+73G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4619;p3_1000G_AF=0.922324;p3_1000G_AFR_AF=0.8192;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=18946;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236883564;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:562,45,0
chr1	236731347	rs819640	G	A	558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs819640;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|7/20|c.697+33G>A||||||,A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|7/20|c.697+33G>A||||||,A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|7/22|c.-125+33G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2462;p3_1000G_AF=0.491613;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=16833;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.3111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236894647;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2509,1897;ESP6500_AA_AGE=618.1+/-393.1;ESP6500_AA_GTC=712,1085,406;ESP6500_CDS_SIZES=NM_001103.2:2685;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=83;ESP6500_EA_AC=2668,5932;ESP6500_EA_AGE=416.7+/-352.2;ESP6500_EA_GTC=436,1796,2068;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001103.2:intron;ESP6500_GL=ACTN2;ESP6500_GRCh38_POSITION=1:236731347;ESP6500_GTC=1148,2881,2474;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001103.2:c.697+33G>A;ESP6500_MAF=31.0233,43.0549,39.8047;ESP6500_TAC=5177,7829	GT:AD:DP:GQ:PL	1/1:0,19:19:57:587,57,0
chr1	236734333	rs707203	A	G	874.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs707203;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|7/20|c.698-1302A>G||||||,G|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|7/20|c.698-100A>G||||||,G|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|7/22|c.-124-100A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19618;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236897633;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:903,75,0
chr1	236734567	rs16834301	T	C	1003.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16834301;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|7/20|c.698-1068T>C||||||,C|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|8/20|c.783+49T>C||||||,C|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|8/22|c.-39+49T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=829;p3_1000G_AF=0.165535;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=21242;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236897867;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1032,90,0
chr1	236739294	rs2288601;43950	C	G	962.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288601;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|9/20|c.877-8C>G||||||,G|splice_region_variant&intron_variant|LOW|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|9/20|c.877-8C>G||||||,G|splice_region_variant&intron_variant|LOW|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|11/22|c.253-8C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3844;p3_1000G_AF=0.767572;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=17586;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236902594;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3436,970;ESP6500_AA_AGE=356.1+/-313.4;ESP6500_AA_GTC=1351,734,118;ESP6500_CDS_SIZES=NM_001103.2:2685;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=6676,1924;ESP6500_EA_AGE=336.0+/-321.7;ESP6500_EA_GTC=2605,1466,229;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001103.2:intron;ESP6500_GL=ACTN2;ESP6500_GRCh38_POSITION=1:236739294;ESP6500_GTC=3956,2200,347;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001103.2:c.877-8C>G;ESP6500_MAF=22.3721,22.0154,22.2513;ESP6500_TAC=10112,2894;CLINVAR_ALLELEID=53119;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000001.11:g.236739294C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:834270;CLINVAR_GENEINFO=ACTN2:88;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288601	GT:AD:DP:GQ:PL	1/1:0,28:28:84:991,84,0
chr1	236747563	rs10802557	T	C	223.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10802557;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|12/20|c.1407-104T>C||||||,C|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|12/20|c.1407-104T>C||||||,C|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|14/22|c.783-104T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1642;p3_1000G_AF=0.327875;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=17755;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.2823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236910863;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:252,21,0
chr1	236747822	rs79971593	C	T	195.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.75;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs79971593;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|13/20|c.1515+47C>T||||||,T|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|13/20|c.1515+47C>T||||||,T|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|15/22|c.891+47C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=392;p3_1000G_AF=0.0782748;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=17042;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236911122;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=142,4264;ESP6500_AA_GTC=6,130,2067;ESP6500_CDS_SIZES=NM_001103.2:2685;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=21;ESP6500_EA_AC=279,8321;ESP6500_EA_GTC=3,273,4024;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001103.2:intron;ESP6500_GL=ACTN2;ESP6500_GRCh38_POSITION=1:236747822;ESP6500_GTC=9,403,6091;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001103.2:c.1515+47C>T;ESP6500_MAF=3.2442,3.2229,3.237;ESP6500_TAC=421,12585	GT:AD:DP:GQ:PL	1/1:0,9:9:27:224,27,0
chr1	236748986	rs2297956	G	A	198.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2297956;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001103.3|protein_coding|13/20|c.1516-138G>A||||||,A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278343.1|protein_coding|13/20|c.1516-138G>A||||||,A|intron_variant|MODIFIER|ACTN2|ACTN2|transcript|NM_001278344.1|protein_coding|15/22|c.892-138G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4589;p3_1000G_AF=0.916334;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=21678;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236912286;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9448;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0
chr1	236815692	rs5781924	T	TTCTG	691.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5781924;dbSNPBuildID=126;ANN=TTCTG|intron_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|7/32|c.669+32_669+33insGTCT||||||INFO_REALIGN_3_PRIME,TTCTG|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|7/31|c.669+32_669+33insGTCT||||||INFO_REALIGN_3_PRIME,TTCTG|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|7/31|c.-440+32_-440+33insGTCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3854;p3_1000G_AF=0.769569;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=20108;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.5875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236978992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=INDEL;ESP6500_AA_AC=3899,367;ESP6500_AA_GTC=1781,337,15;ESP6500_CDS_SIZES=NM_000254.2:3798;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=57;ESP6500_EA_AC=5246,3006;ESP6500_EA_GTC=1673,1900,553;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000254.2:intron;ESP6500_GL=MTR;ESP6500_GRCh38_POSITION=1:236815692;ESP6500_GTC=3454,2237,568;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000254.2:c.669+29_669+30insTCTG;ESP6500_MAF=36.4275,8.6029,26.9452;ESP6500_TAC=9145,3373	GT:AD:DP:GQ:PL	1/1:0,16:16:51:729,51,0
chr1	236861104	rs12078297	T	C	1059.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=2.165;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12078297;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|19/32|c.2044-21T>C||||||,C|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|19/31|c.2044-1132T>C||||||,C|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|18/31|c.823-21T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=410;p3_1000G_AF=0.081869;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=15381;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237024404;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=384,3786;ESP6500_AA_GTC=25,334,1726;ESP6500_CDS_SIZES=NM_000254.2:3798;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=14;ESP6500_EA_AC=12,8502;ESP6500_EA_GTC=0,12,4245;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000254.2:intron;ESP6500_GL=MTR;ESP6500_GRCh38_POSITION=1:236861104;ESP6500_GTC=25,346,5971;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000254.2:c.2044-21T>C;ESP6500_MAF=0.1409,9.2086,3.122;ESP6500_TAC=396,12288	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1088,96,0
chr1	236873931	rs200001208	GCCC	G	952.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.99;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200001208;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|23/32|c.2473+93_2473+95delCCC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|22/31|c.2320+93_2320+95delCCC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|22/31|c.1252+93_1252+95delCCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=410;p3_1000G_AF=0.081869;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=20521;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237037231;p3_1000G_GRCH37_REF=GCCC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:236873931_GCCC_G:990,66,0
chr1	236873935	rs541441537	C	T	961.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.72;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|23/32|c.2473+95C>T||||||,T|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|22/31|c.2320+95C>T||||||,T|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|22/31|c.1252+95C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=410;p3_1000G_AF=0.081869;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=17749;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237037235;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:236873931_GCCC_G:990,66,0
chr1	236873938	rs201508556	GAGGGT	G	952.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=2.2;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs201508556;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|23/32|c.2473+99_2473+103delAGGGT||||||,G|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|22/31|c.2320+99_2320+103delAGGGT||||||,G|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|22/31|c.1252+99_1252+103delAGGGT||||||;p3_1000G_AC=410;p3_1000G_AF=0.081869;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=18809;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237037238;p3_1000G_GRCH37_REF=GAGGGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,21:21:66:1|1:236873931_GCCC_G:990,66,0
chr1	236874698	rs150727404;rs543283391	CT	C	237.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.77;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs150727404,rs368064543;dbSNPBuildID=134,142;ANN=C|intron_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|23/32|c.2474-18delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|22/31|c.2321-18delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|22/31|c.1253-18delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,10:10:30:275,30,0
chr1	236885262	rs2275566	G	A	1570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.21;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2275566;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|26/32|c.2775+43G>A||||||,A|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|25/31|c.2622+43G>A||||||,A|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|25/31|c.1554+43G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3815;p3_1000G_AF=0.761781;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=19332;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.5905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237048562;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3917,487;ESP6500_AA_AGE=197.1+/-221.3;ESP6500_AA_GTC=1747,423,32;ESP6500_CDS_SIZES=NM_000254.2:3798;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=5473,3121;ESP6500_EA_AGE=456.4+/-364.1;ESP6500_EA_GTC=1741,1991,565;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000254.2:intron;ESP6500_GL=MTR;ESP6500_GRCh38_POSITION=1:236885262;ESP6500_GTC=3488,2414,597;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000254.2:c.2775+43G>A;ESP6500_MAF=36.316,11.0581,27.7581;ESP6500_TAC=9390,3608	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1599,156,0
chr1	236895448	rs12030699;296579	C	T	1101.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12030699;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|MTR|MTR|transcript|NM_000254.2|protein_coding|31/33|c.3496C>T|p.Leu1166Leu|3919/10558|3496/3798|1166/1265||,T|synonymous_variant|LOW|MTR|MTR|transcript|NM_001291939.1|protein_coding|30/32|c.3343C>T|p.Leu1115Leu|3766/10405|3343/3645|1115/1214||,T|synonymous_variant|LOW|MTR|MTR|transcript|NM_001291940.1|protein_coding|30/32|c.2275C>T|p.Leu759Leu|3806/10445|2275/2577|759/858||;p3_1000G_AA=C|||;p3_1000G_AC=243;p3_1000G_AF=0.0485224;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=16730;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237058748;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=12,4394;ESP6500_AA_GTC=0,12,2191;ESP6500_CDS_SIZES=NM_000254.2:3798;ESP6500_CG=2.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=26;ESP6500_EA_AC=2,8598;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000254.2:coding-synonymous;ESP6500_GL=MTR;ESP6500_GRCh38_POSITION=1:236895448;ESP6500_GTC=0,14,6489;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000254.2:c.3496C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000254.2:p.(L1166);ESP6500_MAF=0.0233,0.2724,0.1076;ESP6500_TAC=14,12992;CLINVAR_AF_ESP=0.0011;CLINVAR_AF_EXAC=0.02546;CLINVAR_AF_TGP=0.0485;CLINVAR_ALLELEID=281437;CLINVAR_CLNDISDB=MedGen:C1855128,OMIM:250940,Orphanet:ORPHA2170|MedGen:CN043592|MedGen:CN169374;CLINVAR_CLNDN=METHYLCOBALAMIN_DEFICIENCY,_cblG_TYPE|Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.236895448C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:78752;CLINVAR_GENEINFO=MTR:4548;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12030699	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1130,102,0
chr1	236897133	rs3820571;138285	G	T	937.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820571;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|32/32|c.3711+15G>T||||||,T|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|31/31|c.3558+15G>T||||||,T|intron_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|31/31|c.2490+15G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3768;p3_1000G_AF=0.752396;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=18771;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237060433;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3845,561;ESP6500_AA_AGE=250.6+/-257.6;ESP6500_AA_GTC=1678,489,36;ESP6500_CDS_SIZES=NM_000254.2:3798;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=97;ESP6500_EA_AC=5433,3167;ESP6500_EA_AGE=480.8+/-370.5;ESP6500_EA_GTC=1721,1991,588;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000254.2:intron;ESP6500_GL=MTR;ESP6500_GRCh38_POSITION=1:236897133;ESP6500_GTC=3399,2480,624;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000254.2:c.3711+15G>T;ESP6500_MAF=36.8256,12.7326,28.6637;ESP6500_TAC=9278,3728;CLINVAR_ALLELEID=141988;CLINVAR_CLNDISDB=MedGen:CN043592|MedGen:CN169374;CLINVAR_CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.236897133G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4203;CLINVAR_GENEINFO=MTR:4548;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3820571	GT:AD:DP:GQ:PL	1/1:0,30:30:90:966,90,0
chr1	236897550	rs12022937;138286	T	C	1198.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.54;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12022937;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|MTR|MTR|transcript|NM_000254.2|protein_coding|32/32|c.3712-8T>C||||||,C|splice_region_variant&intron_variant|LOW|MTR|MTR|transcript|NM_001291939.1|protein_coding|31/31|c.3559-8T>C||||||,C|splice_region_variant&intron_variant|LOW|MTR|MTR|transcript|NM_001291940.1|protein_coding|31/31|c.2491-8T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1077;p3_1000G_AF=0.215056;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=18668;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237060850;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1777,2629;ESP6500_AA_AGE=524.3+/-371.3;ESP6500_AA_GTC=370,1037,796;ESP6500_CDS_SIZES=NM_000254.2:3798;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=192;ESP6500_EA_AC=178,8422;ESP6500_EA_AGE=78.4+/-141.0;ESP6500_EA_GTC=3,172,4125;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000254.2:intron;ESP6500_GL=MTR;ESP6500_GRCh38_POSITION=1:236897550;ESP6500_GTC=373,1209,4921;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000254.2:c.3712-8T>C;ESP6500_MAF=2.0698,40.3314,15.0315;ESP6500_TAC=1955,11051;CLINVAR_AF_ESP=0.1503;CLINVAR_AF_EXAC=0.08487;CLINVAR_AF_TGP=0.2151;CLINVAR_ALLELEID=141989;CLINVAR_CLNDISDB=MedGen:CN043592|MedGen:CN169374;CLINVAR_CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.236897550T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:48188;CLINVAR_GENEINFO=MTR:4548;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12022937	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1227,126,0
chr1	236897645	rs1465411776;rs67705775;296586	CT	C	159.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.726;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=0.529;SOR=0.569;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs67705775;dbSNPBuildID=151,136;ANN=C|3_prime_UTR_variant|MODIFIER|MTR|MTR|transcript|NM_000254.2|protein_coding|33/33|c.*16delT|||||16|INFO_REALIGN_3_PRIME,C|3_prime_UTR_variant|MODIFIER|MTR|MTR|transcript|NM_001291939.1|protein_coding|32/32|c.*16delT|||||16|INFO_REALIGN_3_PRIME,C|3_prime_UTR_variant|MODIFIER|MTR|MTR|transcript|NM_001291940.1|protein_coding|32/32|c.*16delT|||||16|INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=280140;CLINVAR_CLNDISDB=MedGen:CN043592;CLINVAR_CLNDN=Disorders_of_Intracellular_Cobalamin_Metabolism;CLINVAR_CLNHGVS=NC_000001.11:g.236897660delT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:561295;CLINVAR_GENEINFO=MTR:4548;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=67705775	GT:AD:DP:GQ:PL	0/1:11,10:21:99:197,0,181
chr1	237330789	rs557282363	A	G	161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.955;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.976;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|2/104|c.169-89A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19355;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237494089;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:190,0,147
chr1	237387447	rs117716008	T	A	463.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.7;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=0.826;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117716008;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|9/104|c.676+67T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=69;p3_1000G_AF=0.013778;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=20698;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237550747;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,16:27:99:492,0,265
chr1	237454457	rs3765097;43728	C	T	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.626;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=5.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-1.251;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765097;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|RYR2|RYR2|transcript|NM_001035.2|protein_coding|15/105|c.1359C>T|p.Ser453Ser|1479/16365|1359/14904|453/4967||;p3_1000G_AA=T|||;p3_1000G_AC=2683;p3_1000G_AF=0.535743;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=17132;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.5994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237617757;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1231,2599;ESP6500_AA_GTC=190,851,874;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-1.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=87;ESP6500_EA_AC=4947,3291;ESP6500_EA_GTC=1477,1993,649;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:coding-synonymous;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237454457;ESP6500_GTC=1667,2844,1523;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.1359C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001035.2:p.(S453);ESP6500_MAF=39.949,32.141,48.8068;ESP6500_TAC=6178,5890;CLINVAR_ALLELEID=52897;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.237454457C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4273;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3765097	GT:AD:DP:GQ:PL	0/1:43,27:70:99:644,0,1138
chr1	237456575	rs1394555015;rs397516519;43749	AT	A	358.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.199;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=0.679;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs60132900;dbSNPBuildID=151,136;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|15/104|c.1477-11delT||||||INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=52918;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237456589delT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=397516519	GT:AD:DP:GQ:PL	1/0:1,12:13:99:396,122,148
chr1	237456575	.	AT	ATT	358.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.199;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=0.679;SOR=0.693;INS;HET;VARTYPE=INS;ANN=ATT|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|15/104|c.1477-11dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,6:7:99:396,305,411
chr1	237456749	rs2045955;43752	T	C	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.94;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.969;SOR=0.566;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2045955;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|16/104|c.1612+14T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2660;p3_1000G_AF=0.53115;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=18474;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.5596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237620049;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1098,2706;ESP6500_AA_GTC=152,794,956;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=141;ESP6500_EA_AC=4482,3756;ESP6500_EA_GTC=1225,2032,862;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237456749;ESP6500_GTC=1377,2826,1818;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.1612+14T>C;ESP6500_MAF=45.5936,28.8644,46.3378;ESP6500_TAC=5580,6462;CLINVAR_AF_ESP=0.4634;CLINVAR_ALLELEID=52921;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237456749T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4278;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2045955	GT:AD:DP:GQ:PL	0/1:13,15:28:99:482,0,386
chr1	237468985	rs35662567	A	AT	100.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.598;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=1.04;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35662567;dbSNPBuildID=126;ANN=AT|upstream_gene_variant|MODIFIER|MIR4428|MIR4428|transcript|NR_039626.1|pseudogene||n.-2134_-2133insT|||||2133|,AT|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|16/104|c.1613-107_1613-106insT||||||;p3_1000G_AA=t|-|T|deletion;p3_1000G_AC=2656;p3_1000G_AF=0.530351;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=17517;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.5537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237632285;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,3:6:99:138,0,100
chr1	237506840	rs2618702;257205	A	G	4121.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=132;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=1.119;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2618702;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|23/104|c.2718+26A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3503;p3_1000G_AF=0.699481;p3_1000G_AFR_AF=0.8563;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=17642;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237670140;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3029,629;ESP6500_AA_GTC=1248,533,48;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=5373,2795;ESP6500_EA_GTC=1755,1863,466;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237506840;ESP6500_GTC=3003,2396,514;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.2718+26A>G;ESP6500_MAF=34.2189,17.1952,28.9532;ESP6500_TAC=8402,3424;CLINVAR_ALLELEID=249819;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237506840A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2618702	GT:AD:DP:GQ:PL	1/1:0,132:132:99:4150,395,0
chr1	237511863	rs67622164	G	A	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56;MQRankSum=-0.493;QD=22.78;ReadPosRankSum=0.842;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67622164;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|24/104|c.2822+72G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1479;p3_1000G_AF=0.295327;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=15444;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237675163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,8:10:36:256,0,36
chr1	237530310	rs556890524	C	CAA	34.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=0.842;SOR=1.022;INS;HET;VARTYPE=INS;dbSNPBuildID=142;ANN=CAA|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|24/104|c.2823-103_2823-102dupAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,3:5:54:72,0,54
chr1	237530621	rs2779365	A	G	61.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=-0.812;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2779365;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|25/104|c.2906+111A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.6891;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=17397;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.7982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237693921;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:90:90,0,178
chr1	237548344	rs2618661	T	C	571.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2618661;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|25/104|c.2907-87T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4158;p3_1000G_AF=0.830272;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=19087;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.9583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237711644;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9652;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:600,45,0
chr1	237548497	rs2253273;43763	A	G	1823.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2253273;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|RYR2|RYR2|transcript|NM_001035.2|protein_coding|26/105|c.2973A>G|p.Ser991Ser|3093/16365|2973/14904|991/4967||;p3_1000G_AA=G|||;p3_1000G_AC=4158;p3_1000G_AF=0.830272;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=19444;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.9583;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237711797;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9652;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2382,1458;ESP6500_AA_GTC=731,920,269;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-5.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=7913,343;ESP6500_EA_GTC=3794,325,9;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:coding-synonymous;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237548497;ESP6500_GTC=4525,1245,278;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.2973A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001035.2:p.(S991);ESP6500_MAF=4.1546,37.9688,14.8892;ESP6500_TAC=10295,1801;CLINVAR_ALLELEID=52932;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.237548497A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4292;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2253273	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1852,180,0
chr1	237566824	rs2805390;257207	A	G	1027.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2805390;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|28/104|c.3423+49A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4535;p3_1000G_AF=0.905551;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=20171;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237730124;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3166,978;ESP6500_AA_GTC=1207,752,113;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=8182,206;ESP6500_EA_GTC=3989,204,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237566824;ESP6500_GTC=5196,956,114;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.3423+49A>G;ESP6500_MAF=2.4559,23.6004,9.4478;ESP6500_TAC=11348,1184;CLINVAR_ALLELEID=249820;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237566824A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2805390	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1056,84,0
chr1	237566869	rs2779401	C	T	700.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=4.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2779401;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|28/104|c.3423+94C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4604;p3_1000G_AF=0.919329;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=19538;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237730169;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:729,57,0
chr1	237569032	rs2618717	C	T	268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.3;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=4.357;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.478;SOR=0.073;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2618717;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|28/104|c.3424-113C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2510;p3_1000G_AF=0.501198;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=18204;p3_1000G_EAS_AF=0.3026;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237732332;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,11:30:99:297,0,703
chr1	237569095	rs2805396;257208	G	A	509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.546;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.157;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.631;SOR=0.933;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2805396;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|28/104|c.3424-50G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2468;p3_1000G_AF=0.492812;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=16891;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237732395;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1447,2643;ESP6500_AA_GTC=268,911,866;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=33;ESP6500_EA_AC=5954,2426;ESP6500_EA_GTC=2138,1678,374;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237569095;ESP6500_GTC=2406,2589,1240;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.3424-50G>A;ESP6500_MAF=28.9499,35.379,40.6496;ESP6500_TAC=7401,5069;CLINVAR_AF_TGP=0.4928;CLINVAR_ALLELEID=249821;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237569095G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2805396	GT:AD:DP:GQ:PL	0/1:39,22:61:99:538,0,1044
chr1	237589774	rs11331089;rs1285785325;rs371111802;rs541735679;~rs11331089;36741	AT	A	597.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.829;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.074;SOR=0.754;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11331089,rs371111802;dbSNPBuildID=151,130;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|29/104|c.3599-9delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1428;p3_1000G_AF=0.285144;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=19245;p3_1000G_EAS_AF=0.2659;p3_1000G_EUR_AF=0.4573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237753074;p3_1000G_GRCH37_REF=AT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=INDEL;ESP6500_AA_AC=18,474,3048;ESP6500_AA_GTC=1,0,16,37,400,1316;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...6262&amp%3Brs...11331089;ESP6500_CDS_SIZES=NM_001035.2:14904,NM_001035.2:14904;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=10,3475,4359;ESP6500_EA_GTC=0,0,10,782,1911,1219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron,NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237589774;ESP6500_GTC=1,0,26,819,2311,2535;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.3599-18del1,NM_001035.2:c.3599-19_3599-18insT;ESP6500_MAF=44.4289,13.8983,34.935;ESP6500_TAC=28,3949,7407;CLINVAR_ALLELEID=45402;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374;CLINVAR_CLNDN=Cardiomyopathy|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237589784delT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11331089	GT:AD:DP:GQ:PL	0/1:36,29:65:99:635,0,833
chr1	237590064	rs2805409	A	C	180.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.9;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-1.264;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2805409;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|30/104|c.3807+63A>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1687;p3_1000G_AF=0.336861;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=17963;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.4901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237753364;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:209,0,264
chr1	237590090	rs2805410	A	G	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=0.329;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2805410;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|30/104|c.3807+89A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1688;p3_1000G_AF=0.337061;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=18308;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.4901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237753390;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:133,0,201
chr1	237591040	rs1332777;257210	A	G	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.555;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=-0.905;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1332777;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|31/104|c.4160+48A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=10387;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237754340;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=745,3025;ESP6500_AA_GTC=82,581,1222;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=20;ESP6500_EA_AC=3876,4316;ESP6500_EA_GTC=952,1972,1172;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237591040;ESP6500_GTC=1034,2553,2394;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.4160+48A>G;ESP6500_MAF=47.3145,19.7613,38.6307;ESP6500_TAC=4621,7341;CLINVAR_AF_ESP=0.3863;CLINVAR_AF_EXAC=0.44671;CLINVAR_AF_TGP=0.3375;CLINVAR_ALLELEID=249823;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237591040A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1332777	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,13:19:99:0|1:237591040_A_G:402,0,215
chr1	237591103	rs115230973	T	C	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115230973;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|31/104|c.4160+111T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=4472;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237754403;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,2:4:99:0|1:237591040_A_G:100,0,143
chr1	237591888	rs2618713;257211	C	T	888.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.806;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.386;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.366;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2618713;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|32/104|c.4275+35C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=1682;p3_1000G_AF=0.335863;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=18584;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237755188;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=759,3001;ESP6500_AA_GTC=88,583,1209;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=106;ESP6500_EA_AC=3903,4317;ESP6500_EA_GTC=962,1979,1169;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237591888;ESP6500_GTC=1050,2562,2378;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.4275+35C>T;ESP6500_MAF=47.4818,20.1862,38.9149;ESP6500_TAC=4662,7318;CLINVAR_AF_ESP=0.3892;CLINVAR_AF_EXAC=0.45979;CLINVAR_AF_TGP=0.3359;CLINVAR_ALLELEID=249824;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237591888C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2618713	GT:AD:DP:GQ:PL	0/1:23,33:56:99:917,0,627
chr1	237591903	rs2779430;257212	T	C	760.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.234;SOR=0.614;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2779430;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|32/104|c.4275+50T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=18560;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237755203;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=412,1558;ESP6500_AA_GTC=49,314,622;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=170;ESP6500_EA_AC=1955,2273;ESP6500_EA_GTC=499,957,658;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237591903;ESP6500_GTC=548,1271,1280;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.4275+50T>C;ESP6500_MAF=46.2394,20.9137,38.1897;ESP6500_TAC=2367,3831;CLINVAR_AF_ESP=0.3819;CLINVAR_AF_EXAC=0.43174;CLINVAR_AF_TGP=0.3375;CLINVAR_ALLELEID=249825;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237591903T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2779430	GT:AD:DP:GQ:PL	0/1:21,28:49:99:789,0,517
chr1	237601900	rs2805418	G	A	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.524;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2805418;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|34/104|c.4597-125G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1710;p3_1000G_AF=0.341454;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=16376;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237765200;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:56:56,0,72
chr1	237602170	rs791541	A	T	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0.842;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs791541;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|35/104|c.4683+59A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1468;p3_1000G_AF=0.293131;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=15916;p3_1000G_EAS_AF=0.2659;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237765470;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=185,1199;ESP6500_AA_GTC=11,163,518;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=29;ESP6500_EA_AC=1451,1705;ESP6500_EA_GTC=357,737,484;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237602170;ESP6500_GTC=368,900,1002;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.4683+59A>T;ESP6500_MAF=45.9759,13.3671,36.0352;ESP6500_TAC=1636,2904	GT:AD:DP:GQ:PL	0/1:4,2:6:66:66,0,81
chr1	237625544	rs571092	T	C	41.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-1.645;SOR=2.245;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs571092;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|39/104|c.6023-117T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3712;p3_1000G_AF=0.741214;p3_1000G_AFR_AF=0.6384;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=18937;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237788844;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:70:70,0,71
chr1	237625562	rs571026	T	C	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0;SOR=2.245;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs571026;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|39/104|c.6023-99T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3706;p3_1000G_AF=0.740016;p3_1000G_AFR_AF=0.6354;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=18992;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237788862;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:71:71,0,76
chr1	237633537	rs10802626;257214	G	A	853.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10802626;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|42/104|c.6556-41G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2146;p3_1000G_AF=0.428514;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=19391;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.3221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237796837;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1945,1919;ESP6500_AA_GTC=492,961,479;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=149;ESP6500_EA_AC=2746,5518;ESP6500_EA_GTC=432,1882,1818;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237633537;ESP6500_GTC=924,2843,2297;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.6556-41G>A;ESP6500_MAF=33.2285,49.6636,38.6791;ESP6500_TAC=4691,7437;CLINVAR_AF_ESP=0.3868;CLINVAR_AF_EXAC=0.36365;CLINVAR_AF_TGP=0.4285;CLINVAR_ALLELEID=249826;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237633537G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10802626	GT:AD:DP:GQ:PL	1/1:0,26:26:78:882,78,0
chr1	237633782	rs1967579	T	G	142.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1967579;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|43/104|c.6688+72T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2207;p3_1000G_AF=0.440695;p3_1000G_AFR_AF=0.5734;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=18528;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.3221;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237797082;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:171,15,0
chr1	237633803	rs1967580	C	A	45.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1967580;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|43/104|c.6688+93C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1374;p3_1000G_AF=0.274361;p3_1000G_AFR_AF=0.0976;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=18677;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.2614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237797103;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:73,6,0
chr1	237638470	rs707189;43819	T	C	2202.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=1.41;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs707189;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|RYR2|RYR2|transcript|NM_001035.2|protein_coding|45/105|c.6906T>C|p.Leu2302Leu|7026/16365|6906/14904|2302/4967||;p3_1000G_AA=C|||;p3_1000G_AC=4782;p3_1000G_AF=0.954872;p3_1000G_AFR_AF=0.8359;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=15801;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237801770;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3244,482;ESP6500_AA_GTC=1413,418,32;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=294;ESP6500_EA_AC=8207,5;ESP6500_EA_GTC=4101,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:coding-synonymous;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237638470;ESP6500_GTC=5514,423,32;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.6906T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001035.2:p.(L2302);ESP6500_MAF=0.0609,12.9361,4.0794;ESP6500_TAC=11451,487;CLINVAR_ALLELEID=52988;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.237638470T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4299;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=707189	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2231,201,0
chr1	237638876	rs505489	A	C	390.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs505489;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|45/104|c.6929-139A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.556;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=16737;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237802176;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:419,30,0
chr1	237639259	rs530109	T	C	1630.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=1.201;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs530109;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|46/104|c.7115+58T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=19415;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237802559;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1659,153,0
chr1	237649730	rs487056	C	T	1204.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=3.797;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs487056;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|49/104|c.7513-147C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20710;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237813030;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1233,108,0
chr1	237649826	rs625006	A	G	3737.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs625006;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|49/104|c.7513-51A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2870;p3_1000G_AF=0.573083;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=19677;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.4374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237813126;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3766,354,0
chr1	237651483	rs684923;43827	C	T	885.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.68;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs684923;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|RYR2|RYR2|transcript|NM_001035.2|protein_coding|51/105|c.7806C>T|p.His2602His|7926/16365|7806/14904|2602/4967||;p3_1000G_AA=C|||;p3_1000G_AC=2779;p3_1000G_AF=0.554912;p3_1000G_AFR_AF=0.4864;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=17313;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237814783;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1777,1899;ESP6500_AA_GTC=437,903,498;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=72;ESP6500_EA_AC=3575,4623;ESP6500_EA_GTC=779,2017,1303;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:coding-synonymous;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237651483;ESP6500_GTC=1216,2920,1801;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.7806C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001035.2:p.(H2602);ESP6500_MAF=43.6082,48.3406,45.0733;ESP6500_TAC=5352,6522;CLINVAR_AF_ESP=0.4507;CLINVAR_ALLELEID=52996;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.237651483C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4313;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=684923	GT:AD:DP:GQ:PL	1/1:0,32:32:96:914,96,0
chr1	237651598	rs2184014	C	A	516.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2184014;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|51/104|c.7824+97C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2786;p3_1000G_AF=0.55631;p3_1000G_AFR_AF=0.4864;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=16924;p3_1000G_EAS_AF=0.7966;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237814898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:545,48,0
chr1	237654214	rs3831940;rs397840686	GA	G	143.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.97;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3831940;dbSNPBuildID=137,138;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|51/104|c.7825-51delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAAAAAATA|AAAAAAAAA|AAAAAAAA|complex_deletion;p3_1000G_AC=2241;p3_1000G_AF=0.447484;p3_1000G_AFR_AF=0.593;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=19193;p3_1000G_EAS_AF=0.5437;p3_1000G_EUR_AF=0.2286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237817514;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:181,18,0
chr1	237654484	rs669375	A	G	347.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs669375;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|52/104|c.7965+70A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1770;p3_1000G_AF=0.353435;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=18883;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.1948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237817784;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:376,36,0
chr1	237655714	rs515474	C	G	1149.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.1;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs515474;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|52/104|c.7966-107C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1951;p3_1000G_AF=0.389577;p3_1000G_AFR_AF=0.444;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=16804;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.2018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237819014;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1178,84,0
chr1	237657809	rs607785	T	A	225.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs607785;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|53/104|c.8130-135T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1247;p3_1000G_AF=0.249002;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=11642;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237821109;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:254,21,0
chr1	237660176	rs1342834	A	G	136.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.01;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1342834;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|55/104|c.8298+102A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1391;p3_1000G_AF=0.277756;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=12326;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237823476;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:164,12,0
chr1	237660659	rs475234	C	T	121.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs475234;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|55/104|c.8299-151C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4986;p3_1000G_AF=0.995607;p3_1000G_AFR_AF=0.9849;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=14666;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237823959;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:149,12,0
chr1	237667803	rs477245	C	A	227.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs477245;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|57/104|c.8515-80C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4768;p3_1000G_AF=0.952077;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=14562;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237831103;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:256,24,0
chr1	237700418	rs2797436;43836	T	G	925.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2797436;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|RYR2|RYR2|transcript|NM_001035.2|protein_coding|65/105|c.9318T>G|p.Ser3106Ser|9438/16365|9318/14904|3106/4967||;p3_1000G_AA=t|||;p3_1000G_AC=4854;p3_1000G_AF=0.969249;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=17661;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237863718;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3432,334;ESP6500_AA_GTC=1561,310,12;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=8226,4;ESP6500_EA_GTC=4111,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:coding-synonymous;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237700418;ESP6500_GTC=5672,314,12;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.9318T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001035.2:p.(S3106);ESP6500_MAF=0.0486,8.8688,2.8176;ESP6500_TAC=11658,338;CLINVAR_ALLELEID=53005;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.237700418T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4322;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2797436	GT:AD:DP:GQ:PL	1/1:0,29:29:86:954,86,0
chr1	237701903	rs939699	C	T	456.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs939699;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|65/104|c.9368-75C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4854;p3_1000G_AF=0.969249;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=17891;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237865203;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:485,45,0
chr1	237709414	rs35261418;rs397790132	GT	G	699.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.92;SOR=1.781;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35261418;dbSNPBuildID=126,138;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|69/104|c.10143-54delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3836;p3_1000G_AF=0.765974;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=15615;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.9732;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237872714;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,27:27:81:737,81,0
chr1	237709462	rs3736542	A	G	1620.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3736542;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|69/104|c.10143-18A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=240;p3_1000G_AF=0.0479233;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=14681;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237872762;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=5,3673;ESP6500_AA_GTC=0,5,1834;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=47;ESP6500_EA_AC=2,8190;ESP6500_EA_GTC=0,2,4094;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237709462;ESP6500_GTC=0,7,5928;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.10143-18A>G;ESP6500_MAF=0.0244,0.1359,0.059;ESP6500_TAC=7,11863	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1649,149,0
chr1	237718470	rs2797441;43699	C	T	512.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2797441;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|RYR2|RYR2|transcript|NM_001035.2|protein_coding|73/105|c.10503C>T|p.Thr3501Thr|10623/16365|10503/14904|3501/4967||;p3_1000G_AA=T|||;p3_1000G_AC=4810;p3_1000G_AF=0.960463;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=15429;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237881770;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3229,451;ESP6500_AA_GTC=1410,409,21;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-7.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=8170,4;ESP6500_EA_GTC=4083,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:coding-synonymous;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237718470;ESP6500_GTC=5493,413,21;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.10503C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001035.2:p.(T3501);ESP6500_MAF=0.0489,12.2554,3.8384;ESP6500_TAC=11399,455;CLINVAR_ALLELEID=52868;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.237718470C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4325;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2797441	GT:AD:DP:GQ:PL	1/1:0,18:18:54:541,54,0
chr1	237727137	rs2685301;43702	C	T	752.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.95;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2685301;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|RYR2|RYR2|transcript|NM_001035.2|protein_coding|76/105|c.10776C>T|p.Ser3592Ser|10896/16365|10776/14904|3592/4967||;p3_1000G_AA=T|||;p3_1000G_AC=4809;p3_1000G_AF=0.960264;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=15780;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237890437;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3239,461;ESP6500_AA_GTC=1410,419,21;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=88;ESP6500_EA_AC=8152,4;ESP6500_EA_GTC=4074,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:coding-synonymous;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237727137;ESP6500_GTC=5484,423,21;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.10776C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001035.2:p.(S3592);ESP6500_MAF=0.049,12.4595,3.9221;ESP6500_TAC=11391,465;CLINVAR_ALLELEID=52871;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000001.11:g.237727137C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4328;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2685301	GT:AD:DP:GQ:PL	1/1:0,26:26:78:781,78,0
chr1	237730374	rs2797445;198668	C	T	950.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2797445;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|77/104|c.10935+18C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4934;p3_1000G_AF=0.985224;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16163;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237893674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3536,172;ESP6500_AA_GTC=1684,168,2;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=8188,2;ESP6500_EA_GTC=4093,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237730374;ESP6500_GTC=5777,170,2;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.10935+18C>T;ESP6500_MAF=0.0244,4.6386,1.4624;ESP6500_TAC=11724,174;CLINVAR_ALLELEID=195829;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237730374C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2797445	GT:AD:DP:GQ:PL	1/1:0,30:30:90:979,90,0
chr1	237759753	rs2253831;257198	C	T	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.24;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2253831;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|82/104|c.11326-23C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3814;p3_1000G_AF=0.761581;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=17414;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.6988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237923053;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2945,733;ESP6500_AA_GTC=1171,603,65;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=5655,2513;ESP6500_EA_GTC=1950,1755,379;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237759753;ESP6500_GTC=3121,2358,444;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.11326-23C>T;ESP6500_MAF=30.7664,19.9293,27.4017;ESP6500_TAC=8600,3246;CLINVAR_ALLELEID=249833;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237759753C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2253831	GT:AD:DP:GQ:PL	1/1:0,20:20:59:513,59,0
chr1	237783664	rs790889;43716	T	C	3319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.88;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs790889;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|89/104|c.11963-11T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2077;p3_1000G_AF=0.414736;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=17208;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.3201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237946964;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1117,2603;ESP6500_AA_GTC=167,783,910;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=24;ESP6500_EA_AC=2778,5424;ESP6500_EA_GTC=469,1840,1792;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237783664;ESP6500_GTC=636,2623,2702;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.11963-11T>C;ESP6500_MAF=33.8698,30.0269,32.6707;ESP6500_TAC=3895,8027;CLINVAR_AF_ESP=0.3267;CLINVAR_AF_EXAC=0.48586;CLINVAR_AF_TGP=0.4147;CLINVAR_ALLELEID=52885;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237783664T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4331;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=790889	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3348,294,0
chr1	237788151	rs2256242;93476	A	G	955.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2256242;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|92/104|c.13476+16A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3188;p3_1000G_AF=0.636581;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=18813;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237951451;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3100,924;ESP6500_AA_GTC=1211,678,123;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=4560,3818;ESP6500_EA_GTC=1222,2116,851;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237788151;ESP6500_GTC=2433,2794,974;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.13476+16A>G;ESP6500_MAF=45.5717,22.9622,38.2358;ESP6500_TAC=7660,4742;CLINVAR_ALLELEID=99381;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237788151A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2256242	GT:AD:DP:GQ:PL	1/1:0,29:29:87:984,87,0
chr1	237792349	rs749990949;rs780446556	CTGTGTG	C	1106.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.6;SOR=4.407;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144,144;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|94/104|c.13782+53_13782+58delTGTGTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,5:5:85:1144,762,714
chr1	237792349	.	CTGTGTG	CTG	1106.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.6;SOR=4.407;DEL;HET;VARTYPE=DEL;ANN=CTG|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|94/104|c.13782+55_13782+58delTGTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,23:23:85:1144,166,85
chr1	237792378	rs144369382	T	C	1292.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.03;SOR=4.548;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs144369382;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|94/104|c.13782+55T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2645;p3_1000G_AF=0.528155;p3_1000G_AFR_AF=0.264;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=14022;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.5696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237955678;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:90:1|1:237792378_T_C:1321,90,0
chr1	237792380	rs146659498	T	C	1292.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs146659498;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|94/104|c.13782+57T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2645;p3_1000G_AF=0.528155;p3_1000G_AFR_AF=0.264;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=14150;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.5696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237955680;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:90:1|1:237792378_T_C:1321,90,0
chr1	237792398	rs1177704868	CGTGT	C	443.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.7;SOR=5.421;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|94/104|c.13782+98_13782+101delGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,4:4:98:481,313,302
chr1	237792398	.	CGTGT	CGT	443.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.7;SOR=5.421;DEL;HET;VARTYPE=DEL;ANN=CGT|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|94/104|c.13782+100_13782+101delGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,10:10:98:481,139,98
chr1	237793846	rs790902;257201	G	A	612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs790902;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|94/104|c.13783-21G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3676;p3_1000G_AF=0.734026;p3_1000G_AFR_AF=0.5295;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=16782;p3_1000G_EAS_AF=0.9454;p3_1000G_EUR_AF=0.6312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237957146;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8538;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1984,1634;ESP6500_AA_GTC=554,876,379;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=30;ESP6500_EA_AC=5349,2781;ESP6500_EA_GTC=1757,1835,473;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237793846;ESP6500_GTC=2311,2711,852;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.13783-21G>A;ESP6500_MAF=34.2066,45.1631,37.5809;ESP6500_TAC=7333,4415;CLINVAR_ALLELEID=249836;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237793846G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=790902	GT:AD:DP:GQ:PL	1/1:0,21:21:63:641,63,0
chr1	237793861	rs790901;43731	A	G	809.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs790901;dbSNPBuildID=86;ANN=G|splice_region_variant&intron_variant|LOW|RYR2|RYR2|transcript|NM_001035.2|protein_coding|94/104|c.13783-6A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3794;p3_1000G_AF=0.757588;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=16668;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.6501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237957161;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2132,1480;ESP6500_AA_GTC=638,856,312;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=39;ESP6500_EA_AC=5523,2617;ESP6500_EA_GTC=1878,1767,425;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237793861;ESP6500_GTC=2516,2623,737;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.13783-6A>G;ESP6500_MAF=32.1499,40.9745,34.8622;ESP6500_TAC=7655,4097;CLINVAR_ALLELEID=52900;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237793861A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4336;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=790901	GT:AD:DP:GQ:PL	1/1:0,24:24:72:838,72,0
chr1	237794009	rs790900;43732	A	C	531.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.36;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs790900;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|95/104|c.13913+12A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3760;p3_1000G_AF=0.750799;p3_1000G_AFR_AF=0.5772;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=16986;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.6431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237957309;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2171,1439;ESP6500_AA_GTC=665,841,299;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=52;ESP6500_EA_AC=5445,2701;ESP6500_EA_GTC=1819,1807,447;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237794009;ESP6500_GTC=2484,2648,746;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.13913+12A>C;ESP6500_MAF=33.1574,39.8615,35.2161;ESP6500_TAC=7616,4140;CLINVAR_ALLELEID=52901;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237794009A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4342;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=790900	GT:AD:DP:GQ:PL	1/1:0,14:14:42:560,42,0
chr1	237795450	rs35572672	A	AT	104.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.47;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35572672;dbSNPBuildID=126;ANN=AT|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|96/104|c.13956+131dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3244;p3_1000G_AF=0.647764;p3_1000G_AFR_AF=0.5219;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=13920;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.5775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237958750;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:142,18,0
chr1	237801735	rs2790346	C	A	550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.29;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2790346;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|97/104|c.14091-121C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2319;p3_1000G_AF=0.463059;p3_1000G_AFR_AF=0.4039;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=16848;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.3976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237965035;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:39:1|1:237801735_C_A:579,39,0
chr1	237801743	rs2790347	A	G	560.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.27;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2790347;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|97/104|c.14091-113A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2315;p3_1000G_AF=0.46226;p3_1000G_AFR_AF=0.4024;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=17037;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237965043;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:237801735_C_A:589,42,0
chr1	237801794	rs2794820	G	T	671.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2794820;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|97/104|c.14091-62G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2315;p3_1000G_AF=0.46226;p3_1000G_AFR_AF=0.4024;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=16306;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237965094;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:700,63,0
chr1	237801831	rs9428384;257203	G	A	1373.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9428384;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|97/104|c.14091-25G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2029;p3_1000G_AF=0.405152;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=17072;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.3956;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237965131;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=852,2880;ESP6500_AA_GTC=99,654,1113;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=59;ESP6500_EA_AC=3321,4915;ESP6500_EA_GTC=650,2021,1447;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237801831;ESP6500_GTC=749,2675,2560;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.14091-25G>A;ESP6500_MAF=40.323,22.8296,34.868;ESP6500_TAC=4173,7795;CLINVAR_AF_ESP=0.3487;CLINVAR_AF_EXAC=0.41779;CLINVAR_AF_TGP=0.4052;CLINVAR_ALLELEID=249838;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237801831G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9428384	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1402,102,0
chr1	237801833	rs35563566;rs55683196;43736	A	AT	601.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.95;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=-0.068;SOR=0.892;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35563566,rs55683196;dbSNPBuildID=126,129;ANN=AT|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|97/104|c.14091-11dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1893;p3_1000G_AF=0.377995;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=18436;p3_1000G_EAS_AF=0.6091;p3_1000G_EUR_AF=0.3668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237965133;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=52905;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237801845dupT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=55683196	GT:AD:DP:GQ:PL	0/1:6,28:34:41:639,0,41
chr1	237806338	rs790879	A	G	723.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs790879;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|99/104|c.14298+55A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1441;p3_1000G_AF=0.28774;p3_1000G_AFR_AF=0.2179;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=18038;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237969638;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:752,63,0
chr1	237830642	rs2275693;177965	C	T	553.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.064;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.987;SOR=0.749;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275693;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|103/104|c.14756+12C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=52;p3_1000G_AF=0.0103834;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19869;p3_1000G_EAS_AF=0.0506;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237993942;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4,3902;ESP6500_AA_GTC=0,4,1949;ESP6500_CDS_SIZES=NM_001035.2:14904;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=123;ESP6500_EA_AC=0,8314;ESP6500_EA_GTC=0,0,4157;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035.2:intron;ESP6500_GL=RYR2;ESP6500_GRCh38_POSITION=1:237830642;ESP6500_GTC=0,4,6106;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001035.2:c.14756+12C>T;ESP6500_MAF=0.0,0.1024,0.0327;ESP6500_TAC=4,12216;CLINVAR_AF_ESP=0.0003;CLINVAR_AF_EXAC=0.00311;CLINVAR_AF_TGP=0.0104;CLINVAR_ALLELEID=172575;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.237830642C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:78784;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2275693	GT:AD:DP:GQ:PL	0/1:23,24:47:99:582,0,555
chr1	237833787	rs12594;296809	A	G	1073.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.937;SOR=0.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12594;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|RYR2|RYR2|transcript|NM_001035.2|protein_coding|105/105|c.*1140A>G|||||1140|;p3_1000G_AA=A|||;p3_1000G_AC=1236;p3_1000G_AF=0.246805;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=16788;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237997087;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.2468;CLINVAR_ALLELEID=281876;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia;CLINVAR_CLNHGVS=NC_000001.11:g.237833787A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4347;CLINVAR_GENEINFO=RYR2:6262;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12594	GT:AD:DP:GQ:PL	0/1:48,39:87:99:1102,0,1284
chr1	237882290	rs2794813	C	T	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.524;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794813;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|ZP4|ZP4|transcript|NM_021186.4|protein_coding||c.*132G>A|||||87|,T|intron_variant|MODIFIER|LOC100130331|LOC100130331|transcript|NR_027247.2|pseudogene|3/11|n.308-176C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2746;p3_1000G_AF=0.548323;p3_1000G_AFR_AF=0.6906;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=20989;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238045590;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:70:98,0,70
chr1	237882953	rs2794814	T	C	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.223;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.671;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2794814;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LOC100130331|LOC100130331|transcript|NR_027247.2|pseudogene|4/11|n.410+385T>C||||||,C|intron_variant|MODIFIER|ZP4|ZP4|transcript|NM_021186.4|protein_coding|10/11|c.1391-107A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3502;p3_1000G_AF=0.699281;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=18236;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238046253;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:237,0,223
chr1	237885025	rs2298100	A	G	822.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.81;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=1.977;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.59;SOR=0.951;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298100;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|LOC100130331|LOC100130331|transcript|NR_027247.2|pseudogene|4/11|n.410+2457A>G||||||,G|intron_variant|MODIFIER|ZP4|ZP4|transcript|NM_021186.4|protein_coding|9/11|c.1311+140T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4395;p3_1000G_AF=0.877596;p3_1000G_AFR_AF=0.9592;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=22757;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.8956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238048325;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:44,28:72:99:851,0,1279
chr1	237890224	rs538499	T	C	394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.83;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=1.58;SOR=1.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs538499;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|LOC100130331|LOC100130331|transcript|NR_027247.2|pseudogene|4/11|n.410+7656T>C||||||,C|intron_variant|MODIFIER|ZP4|ZP4|transcript|NM_021186.4|protein_coding|1/11|c.176-48A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2199;p3_1000G_AF=0.439097;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=19268;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238053524;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1490,2916;ESP6500_AA_AGE=473.3+/-356.6;ESP6500_AA_GTC=272,946,985;ESP6500_CDS_SIZES=NM_021186.3:1623;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=42;ESP6500_EA_AC=2788,5812;ESP6500_EA_AGE=429.8+/-356.3;ESP6500_EA_GTC=462,1864,1974;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021186.3:intron;ESP6500_GL=ZP4;ESP6500_GRCh38_POSITION=1:237890224;ESP6500_GTC=734,2810,2959;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021186.3:c.176-48A>G;ESP6500_MAF=32.4186,33.8175,32.8925;ESP6500_TAC=4278,8728	GT:AD:DP:GQ:PL	0/1:7,13:20:99:423,0,165
chr1	239907303	rs3738435	T	C	403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738435;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CHRM3|CHRM3|transcript|NM_000740.2|protein_coding|4/4|c.-19-130T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1349;p3_1000G_AF=0.269369;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=18559;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240070603;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:432,33,0
chr1	240092268	rs140531536;rs71929261	GGGC	G	112.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.825;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.816;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs140531536,rs72215772,rs71929261;dbSNPBuildID=134,137;ANN=G|disruptive_inframe_deletion|MODERATE|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|1/19|c.174_176delCGG|p.Gly59del|399/6441|174/5181|58/1726||INFO_REALIGN_3_PRIME,G|disruptive_inframe_deletion|MODERATE|FMN2|FMN2|transcript|NM_020066.4|protein_coding|1/18|c.174_176delCGG|p.Gly59del|399/6429|174/5169|58/1722||INFO_REALIGN_3_PRIME;p3_1000G_AC=3539;p3_1000G_AF=0.706669;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=10143;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.7893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240255568;p3_1000G_GRCH37_REF=GGGC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,4:10:99:150,0,257
chr1	240093522	rs10926124	C	A	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.742;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.326;SOR=0.628;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10926124;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|1/19|c.1413C>A|p.Ala471Ala|1638/6441|1413/5181|471/1726||,A|synonymous_variant|LOW|FMN2|FMN2|transcript|NM_020066.4|protein_coding|1/18|c.1413C>A|p.Ala471Ala|1638/6429|1413/5169|471/1722||;p3_1000G_AA=C|||;p3_1000G_AC=1652;p3_1000G_AF=0.329872;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=11042;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.5249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240256822;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=701,3587;ESP6500_AA_GTC=91,519,1534;ESP6500_CDS_SIZES=NM_020066.4:5169;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=13;ESP6500_EA_AC=4311,4019;ESP6500_EA_GTC=1186,1939,1040;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020066.4:coding-synonymous;ESP6500_GL=FMN2;ESP6500_GRCh38_POSITION=1:240093522;ESP6500_GTC=1277,2458,2574;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020066.4:c.1413C>A;ESP6500_HGVS_PROTEIN_VAR=NM_020066.4:p.(A471);ESP6500_MAF=48.2473,16.3479,39.721;ESP6500_TAC=5012,7606	GT:AD:DP:GQ:PL	0/1:15,17:32:99:398,0,416
chr1	240123416	rs3738433	G	A	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.14;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=10.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=2.06;SOR=3.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738433;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|2/18|c.1782+71G>A||||||,A|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|2/17|c.1782+71G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=470;p3_1000G_AF=0.0938498;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=16803;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240286716;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,12:18:94:361,0,94
chr1	240207613	rs562038978;rs71170718;~rs6143701	TGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	T	589.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.634;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=-0.285;SOR=1.536;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71170718;dbSNPBuildID=142,130;ANN=T|disruptive_inframe_deletion|MODERATE|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|6/19|c.2834_2866delGAATACCTCCTCCGCCCCCTCTACCCGGAGCGG|p.Gly945_Ala955del|3059/6441|2834/5181|945/1726||INFO_REALIGN_3_PRIME,T|disruptive_inframe_deletion|MODERATE|FMN2|FMN2|transcript|NM_020066.4|protein_coding|5/18|c.2822_2854delGAATACCTCCTCCGCCCCCTCTACCCGGAGCGG|p.Gly941_Ala951del|3047/6429|2822/5169|941/1722||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=1432,2834;ESP6500_AA_GTC=223,986,924;ESP6500_CDS_SIZES=NM_020066.4:5169;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=42;ESP6500_EA_AC=2115,6135;ESP6500_EA_GTC=277,1561,2287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020066.4:coding;ESP6500_GL=FMN2;ESP6500_GRCh38_POSITION=1:240207613;ESP6500_GTC=500,2547,3211;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020066.4:c.2802_2834del33;ESP6500_HGVS_PROTEIN_VAR=NM_020066.4:p.(L934_P945delinsL);ESP6500_MAF=25.6364,33.5677,28.3397;ESP6500_TAC=3547,8969	GT:AD:DP:GQ:PL	0/1:15,16:31:99:627,0,3041
chr1	240258083	rs10926181	G	A	674.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10926181;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|8/18|c.4165+51G>A||||||,A|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|7/17|c.4153+51G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3847;p3_1000G_AF=0.768171;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=17527;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.6103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240421383;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3971,433;ESP6500_AA_GTC=1787,397,18;ESP6500_CDS_SIZES=NM_020066.4:5169;ESP6500_CG=5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=29;ESP6500_EA_AC=5398,3188;ESP6500_EA_GTC=1691,2016,586;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020066.4:intron;ESP6500_GL=FMN2;ESP6500_GRCh38_POSITION=1:240258083;ESP6500_GTC=3478,2413,604;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020066.4:c.4153+51G>A;ESP6500_MAF=37.1302,9.832,27.8753;ESP6500_TAC=9369,3621	GT:AD:DP:GQ:PL	1/1:0,23:23:69:703,69,0
chr1	240258137	rs10926182	C	T	462.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10926182;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|8/18|c.4165+105C>T||||||,T|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|7/17|c.4153+105C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2119;p3_1000G_AF=0.423123;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=18275;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240421437;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:491,42,0
chr1	240294673	rs7526497	G	T	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.135;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.703;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7526497;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|8/18|c.4166-149G>T||||||,T|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|7/17|c.4154-149G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=519;p3_1000G_AF=0.103634;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=15707;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0.1302;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240457973;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:69:139,0,69
chr1	240329114	rs6677726	T	C	516.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-2.036;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6677726;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|10/19|c.4266T>C|p.His1422His|4491/6441|4266/5181|1422/1726||,C|synonymous_variant|LOW|FMN2|FMN2|transcript|NM_020066.4|protein_coding|9/18|c.4254T>C|p.His1418His|4479/6429|4254/5169|1418/1722||;p3_1000G_AA=T|||;p3_1000G_AC=783;p3_1000G_AF=0.15635;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=17380;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240492414;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=783,3623;ESP6500_AA_AGE=318.8+/-295.8;ESP6500_AA_GTC=72,639,1492;ESP6500_CDS_SIZES=NM_020066.4:5169;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=104;ESP6500_EA_AC=529,8071;ESP6500_EA_AGE=147.4+/-202.8;ESP6500_EA_GTC=15,499,3786;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020066.4:coding-synonymous;ESP6500_GL=FMN2;ESP6500_GRCh38_POSITION=1:240329114;ESP6500_GTC=87,1138,5278;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020066.4:c.4254T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020066.4:p.(H1418);ESP6500_MAF=6.1512,17.7712,10.0877;ESP6500_TAC=1312,11694	GT:AD:DP:GQ:PL	0/1:20,19:39:99:545,0,504
chr1	240329243	rs6686353	G	A	1161.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6686353;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|10/18|c.4319+76G>A||||||,A|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|9/17|c.4307+76G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3123;p3_1000G_AF=0.623602;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=18368;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.4712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240492543;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1190,102,0
chr1	240333965	rs10157874	A	C	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.081;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=-0.983;SOR=0.355;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10157874;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|13/18|c.4656+19A>C||||||,C|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|12/17|c.4644+19A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3256;p3_1000G_AF=0.65016;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=15522;p3_1000G_EAS_AF=0.5278;p3_1000G_EUR_AF=0.5119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240497265;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3786,616;ESP6500_AA_AGE=252.1+/-258.6;ESP6500_AA_GTC=1625,536,40;ESP6500_CDS_SIZES=NM_020066.4:5169;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=51;ESP6500_EA_AC=4291,4305;ESP6500_EA_AGE=564.8+/-388.4;ESP6500_EA_GTC=1081,2129,1088;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020066.4:intron;ESP6500_GL=FMN2;ESP6500_GRCh38_POSITION=1:240333965;ESP6500_GTC=2706,2665,1128;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_020066.4:c.4644+19A>C;ESP6500_MAF=49.9186,13.9936,37.8597;ESP6500_TAC=8077,4921	GT:AD:DP:GQ:PL	0/1:5,15:20:99:365,0,103
chr1	240334357	rs10926220	C	T	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=1.15;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10926220;dbSNPBuildID=120;ANN=T|sequence_feature|LOW|FMN2|FMN2|antibody-mapping:heterologous_protein_expression_evidence|NM_020066.4|protein_coding|13/17|c.4765+128C>T||||||,T|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|14/18|c.4777+128C>T||||||,T|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|13/17|c.4765+128C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2265;p3_1000G_AF=0.452276;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=15829;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240497657;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:67:67,0,91
chr1	240355951	rs757799737	CAAAAAAAAAAAAAAAAAA	C	54.52	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.26;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|15/18|c.4870+61_4870+78delAAAAAAAAAAAAAAAAAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|14/17|c.4858+61_4858+78delAAAAAAAAAAAAAAAAAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:7:91,7,0
chr1	240392735	rs9730073	T	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-0.524;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9730073;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|16/18|c.4922+173T>C||||||,C|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|15/17|c.4910+173T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3030;p3_1000G_AF=0.605032;p3_1000G_AFR_AF=0.798;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=17332;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240556035;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:67:112,0,67
chr1	240437969	rs2356386	A	G	231.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2356386;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_001305424.1|protein_coding|16/18|c.4923-92A>G||||||,G|intron_variant|MODIFIER|FMN2|FMN2|transcript|NM_020066.4|protein_coding|15/17|c.4911-92A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4644;p3_1000G_AF=0.927316;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=18309;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240601269;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:260,21,0
chr1	240493524	rs10926280	C	A	933.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10926280;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GREM2|GREM2|transcript|NM_022469.3|protein_coding|1/1|c.-1-48G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1441;p3_1000G_AF=0.28774;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=17349;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.4185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240656824;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2894;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=392,3742;ESP6500_AA_GTC=18,356,1693;ESP6500_CDS_SIZES=NM_022469.3:507;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=6;ESP6500_EA_AC=2823,5357;ESP6500_EA_GTC=479,1865,1746;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022469.3:intron;ESP6500_GL=GREM2;ESP6500_GRCh38_POSITION=1:240493524;ESP6500_GTC=497,2221,3439;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_022469.3:c.-49G>T;ESP6500_MAF=34.511,9.4823,26.1085;ESP6500_TAC=3215,9099	GT:AD:DP:GQ:PL	1/1:0,29:29:87:962,87,0
chr1	240776091	rs12757054	C	T	557.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.479;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.323;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-1.177;SOR=0.278;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12757054;dbSNPBuildID=121;ANN=T|3_prime_UTR_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|18/18|c.*72G>A|||||72|,T|3_prime_UTR_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|16/16|c.*129G>A|||||24556|,T|3_prime_UTR_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|18/18|c.*129G>A|||||24556|,T|3_prime_UTR_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|17/17|c.*72G>A|||||72|;p3_1000G_AA=C|||;p3_1000G_AC=249;p3_1000G_AF=0.0497204;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=18519;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240939391;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=51,1333;ESP6500_AA_GTC=0,51,641;ESP6500_CDS_SIZES=NM_002924.4:1464;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=86;ESP6500_EA_AC=292,2890;ESP6500_EA_GTC=18,256,1317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002924.4:utr-3;ESP6500_GL=RGS7;ESP6500_GRCh38_POSITION=1:240776091;ESP6500_GTC=18,307,1958;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002924.4:c.*72G>A;ESP6500_MAF=9.1766,3.685,7.512;ESP6500_TAC=343,4223	GT:AD:DP:GQ:PL	0/1:11,23:34:99:586,0,294
chr1	240801400	rs541460581	T	G	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.67;ReadPosRankSum=1.21;SOR=0.732;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|17/17|c.1413+55A>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|14/15|c.1201-679A>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|16/17|c.1360-679A>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|16/16|c.1359+1504A>C||||||	GT:AD:DP:GQ:PL	0/1:20,8:28:99:187,0,485
chr1	240811913	rs2275742	T	C	460.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.445;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.09;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275742;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|RGS7|RGS7|transcript|NM_002924.5|protein_coding|14/17|c.1082+5A>G||||||,C|splice_region_variant&intron_variant|LOW|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|12/15|c.923+5A>G||||||,C|splice_region_variant&intron_variant|LOW|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|14/17|c.1082+5A>G||||||,C|splice_region_variant&intron_variant|LOW|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|14/16|c.1082+5A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2026;p3_1000G_AF=0.404553;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=17145;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.5557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240975213;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1200,3206;ESP6500_AA_AGE=698.6+/-406.4;ESP6500_AA_GTC=164,872,1167;ESP6500_CDS_SIZES=NM_002924.4:1464;ESP6500_CG=3.7;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=66;ESP6500_EA_AC=4958,3640;ESP6500_EA_AGE=520.2+/-379.6;ESP6500_EA_GTC=1458,2042,799;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002924.4:intron;ESP6500_GL=RGS7;ESP6500_GRCh38_POSITION=1:240811913;ESP6500_GTC=1622,2914,1966;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002924.4:c.1082+5A>G;ESP6500_MAF=42.3354,27.2356,47.3547;ESP6500_TAC=6158,6846	GT:AD:DP:GQ:PL	0/1:18,20:38:99:489,0,421
chr1	240812135	rs2275744	C	T	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.144;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-1.368;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2275744;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|13/17|c.957-92G>A||||||,T|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|11/15|c.798-92G>A||||||,T|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|13/17|c.957-92G>A||||||,T|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|13/16|c.957-92G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2025;p3_1000G_AF=0.404353;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=17676;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.5557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240975435;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:82:82,0,102
chr1	240814664	rs12744536	G	T	450.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12744536;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|12/17|c.845+52C>A||||||,T|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|10/15|c.686+52C>A||||||,T|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|12/17|c.845+52C>A||||||,T|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|12/16|c.845+52C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2650;p3_1000G_AF=0.529153;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=16884;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.7058;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240977964;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1289,1845;ESP6500_AA_GTC=261,767,539;ESP6500_CDS_SIZES=NM_002924.4:1464;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=35;ESP6500_EA_AC=5197,1947;ESP6500_EA_GTC=1903,1391,278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002924.4:intron;ESP6500_GL=RGS7;ESP6500_GRCh38_POSITION=1:240814664;ESP6500_GTC=2164,2158,817;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002924.4:c.845+52C>A;ESP6500_MAF=27.2536,41.1295,36.8943;ESP6500_TAC=6486,3792	GT:AD:DP:GQ:PL	1/1:0,16:16:48:479,48,0
chr1	240816503	rs3738068	G	A	87.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738068;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|10/17|c.685-88C>T||||||,A|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|8/15|c.526-88C>T||||||,A|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|10/17|c.685-88C>T||||||,A|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|10/16|c.685-88C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3472;p3_1000G_AF=0.693291;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=17146;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240979803;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:115,9,0
chr1	240930672	rs3912109	C	G	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.088;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.556;SOR=0.543;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3912109;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|6/17|c.385+45G>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|4/15|c.226+52407G>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|6/17|c.385+45G>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|6/16|c.385+45G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=706;p3_1000G_AF=0.140974;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=16790;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241093972;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1802,2604;ESP6500_AA_AGE=635.4+/-396.4;ESP6500_AA_GTC=386,1030,787;ESP6500_CDS_SIZES=NM_002924.4:1464;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=117;ESP6500_EA_AC=106,8494;ESP6500_EA_AGE=814.2+/-407.0;ESP6500_EA_GTC=2,102,4196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002924.4:intron;ESP6500_GL=RGS7;ESP6500_GRCh38_POSITION=1:240930672;ESP6500_GTC=388,1132,4983;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002924.4:c.385+45G>C;ESP6500_MAF=1.2326,40.8988,14.6702;ESP6500_TAC=1908,11098	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,11:25:99:0|1:240930672_C_G:287,0,450
chr1	240930763	rs746371045	G	A	273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.486;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.221;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|synonymous_variant|LOW|RGS7|RGS7|transcript|NM_002924.5|protein_coding|6/18|c.339C>T|p.Pro113Pro|721/2495|339/1464|113/487||,A|synonymous_variant|LOW|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|6/18|c.339C>T|p.Pro113Pro|721/2522|339/1434|113/477||,A|synonymous_variant|LOW|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|6/17|c.339C>T|p.Pro113Pro|721/2441|339/1410|113/469||,A|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|4/15|c.226+52316C>T||||||	GT:AD:DP:GQ:PL	0/1:10,11:21:99:302,0,249
chr1	240936751	rs373878791	T	C	153.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.812;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.812;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373878791;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|4/17|c.227-45A>G||||||,C|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|4/15|c.226+46328A>G||||||,C|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|4/17|c.227-45A>G||||||,C|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|4/16|c.227-45A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19297;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241100051;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:22:182,0,22
chr1	240983022	rs7520707	A	G	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.052;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.49;SOR=0.19;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7520707;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|4/17|c.226+57T>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|4/15|c.226+57T>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|4/17|c.226+57T>C||||||,G|intron_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|4/16|c.226+57T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1783;p3_1000G_AF=0.35603;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=16049;p3_1000G_EAS_AF=0.2857;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241146322;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=450,934;ESP6500_AA_GTC=68,314,310;ESP6500_CDS_SIZES=NM_002924.4:1464;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=61;ESP6500_EA_AC=1281,1891;ESP6500_EA_GTC=276,729,581;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002924.4:intron;ESP6500_GL=RGS7;ESP6500_GRCh38_POSITION=1:240983022;ESP6500_GTC=344,1043,891;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002924.4:c.226+57T>C;ESP6500_MAF=40.3846,32.5145,37.9939;ESP6500_TAC=1731,2825	GT:AD:DP:GQ:PL	0/1:7,11:18:99:253,0,172
chr1	241355798	rs4659599	T	A	352.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.14;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4659599;dbSNPBuildID=111;ANN=A|5_prime_UTR_variant|MODIFIER|RGS7|RGS7|transcript|NM_002924.5|protein_coding|2/18|c.-22A>T|||||22|,A|5_prime_UTR_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282773.1|protein_coding|2/16|c.-22A>T|||||22|,A|5_prime_UTR_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282775.1|protein_coding|2/18|c.-22A>T|||||22|,A|5_prime_UTR_variant|MODIFIER|RGS7|RGS7|transcript|NM_001282778.1|protein_coding|2/17|c.-22A>T|||||22|;p3_1000G_AA=T|||;p3_1000G_AC=4749;p3_1000G_AF=0.948283;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=17024;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241519098;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3887,519;ESP6500_AA_AGE=778.3+/-414.3;ESP6500_AA_GTC=1715,457,31;ESP6500_CDS_SIZES=NM_002924.4:1464;ESP6500_CG=4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=69;ESP6500_EA_AC=8483,117;ESP6500_EA_AGE=814.1+/-407.0;ESP6500_EA_GTC=4184,115,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002924.4:utr-5;ESP6500_GL=RGS7;ESP6500_GRCh38_POSITION=1:241355798;ESP6500_GTC=5899,572,32;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_002924.4:c.-22A>T;ESP6500_MAF=1.3605,11.7794,4.8901;ESP6500_TAC=12370,636	GT:AD:DP:GQ:PL	1/1:0,13:13:39:381,39,0
chr1	241500602	rs144131869;296865	T	TGA	129.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.569;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-0.374;SOR=0.368;INS;HET;VARTYPE=INS;dbSNPBuildID=134;ANN=TGA|intron_variant|MODIFIER|FH|FH|transcript|NM_000143.3|protein_coding|8/9|c.1237-14_1237-13dupTC||||||;CLINVAR_ALLELEID=281818;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0007437,MedGen:C1708350,OMIM:150800,Orphanet:ORPHA523|MedGen:C0342770,OMIM:606812,Orphanet:ORPHA24,SNOMED_CT:237983002|MedGen:CN169374|MedGen:CN239164;CLINVAR_CLNDN=Multiple_cutaneous_leiomyomas|Fumarase_deficiency|not_specified|Multiple_Cutaneous_and_Uterine_Leiomyomas;CLINVAR_CLNHGVS=NC_000001.11:g.241500603_241500604dupGA;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:563465;CLINVAR_GENEINFO=FH:2271;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=144131869	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,8:15:99:1|0:241500596_A_T:167,0,162
chr1	241503933	rs4660099	C	T	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.569;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.32;ReadPosRankSum=-0.467;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4660099;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|FH|FH|transcript|NM_000143.3|protein_coding|7/9|c.1108+109G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=21216;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241667233;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:78:78,0,374
chr1	241503944	rs4659607	G	T	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.948;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=0.445;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4659607;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|FH|FH|transcript|NM_000143.3|protein_coding|7/9|c.1108+98C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3685;p3_1000G_AF=0.735823;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=21048;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.7048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241667244;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,4:16:77:77,0,426
chr1	241548834	rs11556464	C	T	86.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11556464;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|KMO|KMO|transcript|NM_003679.4|protein_coding|2/15|c.60C>T|p.Gly20Gly|371/5266|60/1461|20/486||;p3_1000G_AA=C|||;p3_1000G_AC=1869;p3_1000G_AF=0.373203;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=15923;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.3042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241712134;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2194,2212;ESP6500_AA_AGE=583.2+/-385.8;ESP6500_AA_GTC=540,1114,549;ESP6500_CDS_SIZES=NM_003679.4:1461;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=68;ESP6500_EA_AC=2833,5767;ESP6500_EA_AGE=443.9+/-360.5;ESP6500_EA_GTC=465,1903,1932;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003679.4:coding-synonymous;ESP6500_GL=KMO;ESP6500_GRCh38_POSITION=1:241548834;ESP6500_GTC=1005,3017,2481;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003679.4:c.60C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003679.4:p.(G20);ESP6500_MAF=32.9419,49.7957,38.6514;ESP6500_TAC=5027,7979	GT:AD:DP:GQ:PL	1/1:0,3:3:9:114,9,0
chr1	241604628	rs632966	G	A	1278.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=3.321;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs632966;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|OPN3|OPN3|transcript|NM_014322.2|protein_coding|1/3|c.374-49C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4545;p3_1000G_AF=0.907548;p3_1000G_AFR_AF=0.9175;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=22354;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241767930;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9427;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4042,360;ESP6500_AA_GTC=1856,330,15;ESP6500_CDS_SIZES=NM_014322.2:1209;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=22;ESP6500_EA_AC=8232,368;ESP6500_EA_GTC=3937,358,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014322.2:intron;ESP6500_GL=OPN3;ESP6500_GRCh38_POSITION=1:241604628;ESP6500_GTC=5793,688,20;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014322.2:c.374-49C>T;ESP6500_MAF=4.2791,8.1781,5.5991;ESP6500_TAC=12274,728	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1307,105,0
chr1	241635296	rs1255173817	G	A	756.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.936;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=8.381;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.491;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|synonymous_variant|LOW|CHML|CHML|transcript|NM_001821.3|protein_coding|1/1|c.471C>T|p.His157His|635/7066|471/1971|157/656||,A|intron_variant|MODIFIER|OPN3|OPN3|transcript|NM_014322.2|protein_coding|1/3|c.373+4586C>T||||||	GT:AD:DP:GQ:PL	0/1:42,30:72:99:785,0,1229
chr1	241635329	rs3737604	C	T	616.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.785;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1.77;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737604;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|CHML|CHML|transcript|NM_001821.3|protein_coding|1/1|c.438G>A|p.Ser146Ser|602/7066|438/1971|146/656||,T|intron_variant|MODIFIER|OPN3|OPN3|transcript|NM_014322.2|protein_coding|1/3|c.373+4553G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1385;p3_1000G_AF=0.276558;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=19695;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.3241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241798631;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1131,3275;ESP6500_AA_AGE=707.5+/-407.5;ESP6500_AA_GTC=136,859,1208;ESP6500_CDS_SIZES=NM_014322.2:1209,NM_001821.3:1971;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=153;ESP6500_EA_AC=3007,5591;ESP6500_EA_AGE=661.2+/-401.9;ESP6500_EA_GTC=539,1929,1831;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014322.2:intron,NM_001821.3:coding-synonymous;ESP6500_GL=CHML,OPN3;ESP6500_GRCh38_POSITION=1:241635329;ESP6500_GTC=675,2788,3039;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014322.2:c.373+4553G>A,NM_001821.3:c.438G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001821.3:p.(S146);ESP6500_MAF=34.9732,25.6695,31.821;ESP6500_TAC=4138,8866	GT:AD:DP:GQ:PL	0/1:44,26:70:99:645,0,1252
chr1	241640334	rs7513575	T	C	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7513575;dbSNPBuildID=116;ANN=C|5_prime_UTR_variant|MODIFIER|OPN3|OPN3|transcript|NM_014322.2|protein_coding|1/4|c.-80A>G|||||80|,C|upstream_gene_variant|MODIFIER|CHML|CHML|transcript|NM_001821.3|protein_coding||c.-4568A>G|||||4404|;p3_1000G_AA=C|||;p3_1000G_AC=3918;p3_1000G_AF=0.782348;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=4214;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241803636;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	241640356	rs7513451	A	G	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7513451;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|OPN3|OPN3|transcript|NM_014322.2|protein_coding|1/4|c.-102T>C|||||102|,G|upstream_gene_variant|MODIFIER|CHML|CHML|transcript|NM_001821.3|protein_coding||c.-4590T>C|||||4426|;p3_1000G_AA=G|||;p3_1000G_AC=3921;p3_1000G_AF=0.782947;p3_1000G_AFR_AF=0.9054;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=4313;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241803658;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr1	241674755	rs67170285	C	T	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.293;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.712;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67170285;dbSNPBuildID=130;ANN=T|splice_region_variant&intron_variant|LOW|WDR64|WDR64|transcript|NM_144625.4|protein_coding|4/26|c.483+8C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2424;p3_1000G_AF=0.484026;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=10808;p3_1000G_EAS_AF=0.3532;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241838057;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=499,885;ESP6500_AA_GTC=171,157,364;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=-2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=96;ESP6500_EA_AC=1905,1277;ESP6500_EA_GTC=743,419,429;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:intron;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241674755;ESP6500_GTC=914,576,793;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.483+8C>T;ESP6500_MAF=40.132,36.0549,47.35;ESP6500_TAC=2404,2162	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,12:31:99:0|1:241674755_C_T:337,0,1121
chr1	241674763	rs66585415	T	C	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.033;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.8;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs66585415;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|4/26|c.483+16T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2845;p3_1000G_AF=0.568091;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=10195;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.7197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241838065;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=676,708;ESP6500_AA_GTC=236,204,252;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=1.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=87;ESP6500_EA_AC=2095,1087;ESP6500_EA_GTC=842,411,338;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:intron;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241674763;ESP6500_GTC=1078,615,590;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.483+16T>C;ESP6500_MAF=34.1609,48.8439,39.3123;ESP6500_TAC=2771,1795	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,8:24:99:0|1:241674755_C_T:299,0,1059
chr1	241723452	rs10926548	T	C	1276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.932;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=0.693;SOR=0.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10926548;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|9/26|c.1164+16T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=908;p3_1000G_AF=0.18131;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=18900;p3_1000G_EAS_AF=0.1101;p3_1000G_EUR_AF=0.1561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241886754;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=602,3804;ESP6500_AA_AGE=263.1+/-265.3;ESP6500_AA_GTC=38,526,1639;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=44;ESP6500_EA_AC=1595,7005;ESP6500_EA_AGE=295.8+/-302.6;ESP6500_EA_GTC=145,1305,2850;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:intron;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241723452;ESP6500_GTC=183,1831,4489;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.1164+16T>C;ESP6500_MAF=18.5465,13.6632,16.8922;ESP6500_TAC=2197,10809	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,35:64:99:0|1:241723452_T_C:1305,0,1416
chr1	241723462	rs10926549	A	G	1149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.811;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.11;ReadPosRankSum=0;SOR=0.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10926549;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|9/26|c.1164+26A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=908;p3_1000G_AF=0.18131;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=18942;p3_1000G_EAS_AF=0.1101;p3_1000G_EUR_AF=0.1561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241886764;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=601,3805;ESP6500_AA_AGE=250.0+/-257.2;ESP6500_AA_GTC=38,525,1640;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=36;ESP6500_EA_AC=1586,7014;ESP6500_EA_AGE=275.3+/-291.7;ESP6500_EA_GTC=145,1296,2859;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:intron;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241723462;ESP6500_GTC=183,1821,4499;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.1164+26A>G;ESP6500_MAF=18.4419,13.6405,16.8153;ESP6500_TAC=2187,10819	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,30:52:99:0|1:241723452_T_C:1178,0,1280
chr1	241744389	rs7418599	A	G	1077.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.13;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7418599;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|WDR64|WDR64|transcript|NM_144625.4|protein_coding|11/26|c.1441-4A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1755;p3_1000G_AF=0.350439;p3_1000G_AFR_AF=0.121;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=20582;p3_1000G_EAS_AF=0.5119;p3_1000G_EUR_AF=0.3121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241907691;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=674,3732;ESP6500_AA_AGE=285.5+/-278.2;ESP6500_AA_GTC=51,572,1580;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=98;ESP6500_EA_AC=3090,5510;ESP6500_EA_AGE=473.3+/-368.6;ESP6500_EA_GTC=539,2012,1749;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:intron;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241744389;ESP6500_GTC=590,2584,3329;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.1441-4A>G;ESP6500_MAF=35.9302,15.2973,28.9405;ESP6500_TAC=3764,9242	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1106,111,0
chr1	241744515	rs10802990	T	C	1061.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=1.308;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10802990;dbSNPBuildID=120;ANN=C|splice_region_variant&synonymous_variant|LOW|WDR64|WDR64|transcript|NM_144625.4|protein_coding|12/27|c.1563T>C|p.Asn521Asn|1770/4370|1563/3246|521/1081||;p3_1000G_AA=C|||;p3_1000G_AC=2959;p3_1000G_AF=0.590855;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=20898;p3_1000G_EAS_AF=0.5149;p3_1000G_EUR_AF=0.4672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241907817;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3411,995;ESP6500_AA_AGE=371.0+/-319.8;ESP6500_AA_GTC=1325,761,117;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=-2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=95;ESP6500_EA_AC=4503,4097;ESP6500_EA_AGE=561.9+/-387.9;ESP6500_EA_GTC=1169,2165,966;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144625.4:coding-synonymous-near-splice;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241744515;ESP6500_GTC=2494,2926,1083;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.1563T>C;ESP6500_HGVS_PROTEIN_VAR=NM_144625.4:p.(N521);ESP6500_MAF=47.6395,22.5828,39.1512;ESP6500_TAC=7914,5092	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1090,105,0
chr1	241749760	rs11432682;~rs11432682	C	CT	1196.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.69;SOR=1.236;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11432682;dbSNPBuildID=130;ANN=CT|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|13/26|c.1740+43dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTT|TTTTT|TTTTTT|insertion;p3_1000G_AC=3050;p3_1000G_AF=0.609026;p3_1000G_AFR_AF=0.649;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=19941;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.5984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241913062;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=INDEL;ESP6500_AA_AC=2748,1518;ESP6500_AA_GTC=868,1012,253;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=57;ESP6500_EA_AC=5270,2984;ESP6500_EA_GTC=1663,1944,520;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:intron;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241749760;ESP6500_GTC=2531,2956,773;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.1740+38_1740+39insT;ESP6500_MAF=36.1522,35.5837,35.9585;ESP6500_TAC=8018,4502	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1234,117,0
chr1	241770574	rs11809239	A	G	792.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11809239;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|16/26|c.2154-47A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2433;p3_1000G_AF=0.485823;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=17433;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.5944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241933876;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:821,72,0
chr1	241779969	rs41308208	C	G	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.08;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.238;SOR=1.552;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41308208;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|20/26|c.2507-35C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=419;p3_1000G_AF=0.0836661;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=15753;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.0358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241943271;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=68,4330;ESP6500_AA_AGE=57.4+/-93.9;ESP6500_AA_GTC=0,68,2131;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=1.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=43;ESP6500_EA_AC=321,8255;ESP6500_EA_AGE=111.2+/-171.5;ESP6500_EA_GTC=5,311,3972;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:intron;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241779969;ESP6500_GTC=5,379,6103;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.2507-35C>G;ESP6500_MAF=3.743,1.5462,2.9983;ESP6500_TAC=389,12585	GT:AD:DP:GQ:PL	0/1:8,9:17:99:296,0,202
chr1	241783464	rs953597	A	C	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs953597;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|22/26|c.2675+83A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2551;p3_1000G_AF=0.509385;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=19152;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241946766;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:62:105,0,62
chr1	241787805	rs12021981	A	C	360.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.381;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.06;ReadPosRankSum=-0.223;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12021981;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|22/26|c.2676-44A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=413;p3_1000G_AF=0.0824681;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=17720;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241951107;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=54,4352;ESP6500_AA_AGE=50.2+/-85.5;ESP6500_AA_GTC=0,54,2149;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=79;ESP6500_EA_AC=324,8276;ESP6500_EA_AGE=112.1+/-172.3;ESP6500_EA_GTC=5,314,3981;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:intron;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241787805;ESP6500_GTC=5,368,6130;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.2676-44A>C;ESP6500_MAF=3.7674,1.2256,2.9064;ESP6500_TAC=378,12628	GT:AD:DP:GQ:PL	0/1:1,11:12:6:388,0,6
chr1	241790703	rs546080749;rs757827221	TAA	T	143.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.75;ReadPosRankSum=-1.221;SOR=2.788;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144,142;ANN=T|intron_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|24/26|c.2967+24_2967+25delAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,4:5:18:122,0,18
chr1	241801257	rs4658661	C	T	152.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4658661;dbSNPBuildID=111;ANN=T|3_prime_UTR_variant|MODIFIER|WDR64|WDR64|transcript|NM_144625.4|protein_coding|27/27|c.*42C>T|||||42|;p3_1000G_AA=C|||;p3_1000G_AC=1910;p3_1000G_AF=0.38139;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=18193;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.506;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241964559;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1005,3401;ESP6500_AA_GTC=136,733,1334;ESP6500_CDS_SIZES=NM_144625.4:3246;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=43;ESP6500_EA_AC=5095,3505;ESP6500_EA_GTC=1697,1701,902;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144625.4:utr-3;ESP6500_GL=WDR64;ESP6500_GRCh38_POSITION=1:241801257;ESP6500_GTC=1833,2434,2236;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144625.4:c.*42C>T;ESP6500_MAF=40.7558,22.8098,46.9014;ESP6500_TAC=6100,6906	GT:AD:DP:GQ:PL	1/1:0,5:5:15:181,15,0
chr1	241852518	rs2526704	A	G	517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2526704;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_006027.4|protein_coding|3/13|c.281+107A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|4/14|c.281+107A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_130398.3|protein_coding|5/15|c.281+107A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_003686.4|protein_coding|3/13|c.281+107A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3632;p3_1000G_AF=0.72524;p3_1000G_AFR_AF=0.8563;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=14357;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.5775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242015820;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:546,39,0
chr1	241866849	rs735943	A	G	1936.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=2.621;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs735943;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_006027.4|protein_coding|9/14|c.1061A>G|p.His354Arg|1375/3194|1061/2541|354/846||,G|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|10/15|c.1061A>G|p.His354Arg|1538/3354|1061/2538|354/845||,G|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_130398.3|protein_coding|11/16|c.1061A>G|p.His354Arg|1643/3462|1061/2541|354/846||,G|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_003686.4|protein_coding|9/14|c.1061A>G|p.His354Arg|1375/3192|1061/2412|354/803||;p3_1000G_AA=G|||;p3_1000G_AC=3190;p3_1000G_AF=0.636981;p3_1000G_AFR_AF=0.615;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=18299;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.5716;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242030151;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2739,1667;ESP6500_AA_AGE=506.6+/-366.4;ESP6500_AA_GTC=838,1063,302;ESP6500_CDS_SIZES=NM_130398.3:2541,NM_006027.4:2541,NM_003686.4:2412;ESP6500_CG=-0.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=103;ESP6500_EA_AC=4641,3959;ESP6500_EA_AGE=550.5+/-385.8;ESP6500_EA_GTC=1275,2091,934;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_130398.3:missense,NM_006027.4:missense,NM_003686.4:missense;ESP6500_GL=EXO1;ESP6500_GRCh38_POSITION=1:241866849;ESP6500_GS=29,29,29;ESP6500_GTC=2113,3154,1236;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_130398.3:c.1061A>G,NM_006027.4:c.1061A>G,NM_003686.4:c.1061A>G;ESP6500_HGVS_PROTEIN_VAR=NM_130398.3:p.(H354R),NM_006027.4:p.(H354R),NM_003686.4:p.(H354R);ESP6500_MAF=46.0349,37.8348,43.257;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=7380,5626	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1965,185,0
chr1	241872371	rs4149969	A	G	97.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4149969;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_006027.4|protein_coding|10/13|c.1514+93A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|11/14|c.1511+93A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_130398.3|protein_coding|12/15|c.1514+93A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_003686.4|protein_coding|10/13|c.1514+93A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1027;p3_1000G_AF=0.205072;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=17500;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242035673;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:125,9,0
chr1	241872420	rs851780	G	A	52.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs851780;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_006027.4|protein_coding|10/13|c.1514+142G>A||||||,A|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|11/14|c.1511+142G>A||||||,A|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_130398.3|protein_coding|12/15|c.1514+142G>A||||||,A|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_003686.4|protein_coding|10/13|c.1514+142G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3470;p3_1000G_AF=0.692891;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=19510;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242035722;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:80,6,0
chr1	241878631	rs1776147	A	G	147.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1776147;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_006027.4|protein_coding|10/13|c.1515-118A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|11/14|c.1512-118A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_130398.3|protein_coding|12/15|c.1515-118A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_003686.4|protein_coding|10/13|c.1515-118A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3229;p3_1000G_AF=0.644768;p3_1000G_AFR_AF=0.5477;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=15946;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.5527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242041933;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:175,12,0
chr1	241879243	rs1776148	A	G	1905.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1776148;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_006027.4|protein_coding|11/14|c.2009A>G|p.Glu670Gly|2323/3194|2009/2541|670/846||,G|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|12/15|c.2006A>G|p.Glu669Gly|2483/3354|2006/2538|669/845||,G|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_130398.3|protein_coding|13/16|c.2009A>G|p.Glu670Gly|2591/3462|2009/2541|670/846||,G|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_003686.4|protein_coding|11/14|c.2009A>G|p.Glu670Gly|2323/3192|2009/2412|670/803||;p3_1000G_AA=G|||;p3_1000G_AC=3415;p3_1000G_AF=0.681909;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=19323;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.6511;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242042545;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3086,1320;ESP6500_AA_AGE=442.7+/-346.8;ESP6500_AA_GTC=1094,898,211;ESP6500_CDS_SIZES=NM_130398.3:2541,NM_006027.4:2541,NM_003686.4:2412;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=62;ESP6500_EA_AC=5433,3167;ESP6500_EA_AGE=478.2+/-369.8;ESP6500_EA_GTC=1711,2011,578;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_130398.3:missense,NM_006027.4:missense,NM_003686.4:missense;ESP6500_GL=EXO1;ESP6500_GRCh38_POSITION=1:241879243;ESP6500_GS=98,98,98;ESP6500_GTC=2805,2909,789;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_130398.3:c.2009A>G,NM_006027.4:c.2009A>G,NM_003686.4:c.2009A>G;ESP6500_HGVS_PROTEIN_VAR=NM_130398.3:p.(E670G),NM_006027.4:p.(E670G),NM_003686.4:p.(E670G);ESP6500_MAF=36.8256,29.9591,34.4995;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=8519,4487	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1934,174,0
chr1	241879388	rs1418760	A	G	596.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1418760;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_006027.4|protein_coding|11/13|c.2109+45A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|12/14|c.2106+45A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_130398.3|protein_coding|13/15|c.2109+45A>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_003686.4|protein_coding|11/13|c.2109+45A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3657;p3_1000G_AF=0.730232;p3_1000G_AFR_AF=0.6513;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=17574;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.8032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242042690;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6708;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2650,1084;ESP6500_AA_GTC=942,766,159;ESP6500_CDS_SIZES=NM_130398.3:2541,NM_006027.4:2541,NM_003686.4:2412;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=10;ESP6500_EA_AC=6588,1546;ESP6500_EA_GTC=2690,1208,169;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130398.3:intron,NM_006027.4:intron,NM_003686.4:intron;ESP6500_GL=EXO1;ESP6500_GRCh38_POSITION=1:241879388;ESP6500_GTC=3632,1974,328;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_130398.3:c.2109+45A>G,NM_006027.4:c.2109+45A>G,NM_003686.4:c.2109+45A>G;ESP6500_MAF=19.0066,29.0305,22.1604;ESP6500_TAC=9238,2630	GT:AD:DP:GQ:PL	1/1:0,16:16:48:625,48,0
chr1	241881973	rs1635498	C	T	108.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.78;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1635498;dbSNPBuildID=89;ANN=T|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_006027.4|protein_coding|12/14|c.2167C>T|p.Arg723Cys|2481/3194|2167/2541|723/846||,T|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|13/15|c.2164C>T|p.Arg722Cys|2641/3354|2164/2538|722/845||,T|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_130398.3|protein_coding|14/16|c.2167C>T|p.Arg723Cys|2749/3462|2167/2541|723/846||,T|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_003686.4|protein_coding|12/14|c.2167C>T|p.Arg723Cys|2481/3192|2167/2412|723/803||;p3_1000G_AA=C|||;p3_1000G_AC=4584;p3_1000G_AF=0.915335;p3_1000G_AFR_AF=0.8714;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=13784;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.9672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242045275;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3900,504;ESP6500_AA_AGE=767.8+/-413.5;ESP6500_AA_GTC=1729,442,31;ESP6500_CDS_SIZES=NM_130398.3:2541,NM_006027.4:2541,NM_003686.4:2412;ESP6500_CG=1.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=57;ESP6500_EA_AC=8380,208;ESP6500_EA_AGE=805.4+/-407.3;ESP6500_EA_GTC=4087,206,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_130398.3:missense,NM_006027.4:missense,NM_003686.4:missense;ESP6500_GL=EXO1;ESP6500_GRCh38_POSITION=1:241881973;ESP6500_GS=180,180,180;ESP6500_GTC=5816,648,32;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_130398.3:c.2167C>T,NM_006027.4:c.2167C>T,NM_003686.4:c.2167C>T;ESP6500_HGVS_PROTEIN_VAR=NM_130398.3:p.(R723C),NM_006027.4:p.(R723C),NM_003686.4:p.(R723C);ESP6500_MAF=2.422,11.4441,5.4803;ESP6500_PH=possibly-damaging:0.85,possibly-damaging:0.85,possibly-damaging:0.85;ESP6500_TAC=12280,712	GT:AD:DP:GQ:PL	1/1:0,5:5:15:137,15,0
chr1	241885372	rs9350	C	T	367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.29;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9350;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_006027.4|protein_coding|13/14|c.2270C>T|p.Pro757Leu|2584/3194|2270/2541|757/846||,T|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|14/15|c.2267C>T|p.Pro756Leu|2744/3354|2267/2538|756/845||,T|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_130398.3|protein_coding|15/16|c.2270C>T|p.Pro757Leu|2852/3462|2270/2541|757/846||,T|missense_variant|MODERATE|EXO1|EXO1|transcript|NM_003686.4|protein_coding|13/14|c.2270C>T|p.Pro757Leu|2584/3192|2270/2412|757/803||;p3_1000G_AA=C|||;p3_1000G_AC=1260;p3_1000G_AF=0.251597;p3_1000G_AFR_AF=0.1808;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=11488;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.1521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242048674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=810,3596;ESP6500_AA_AGE=321.5+/-297.2;ESP6500_AA_GTC=82,646,1475;ESP6500_CDS_SIZES=NM_130398.3:2541,NM_006027.4:2541,NM_003686.4:2412;ESP6500_CG=6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=58;ESP6500_EA_AC=1367,7233;ESP6500_EA_AGE=265.6+/-286.2;ESP6500_EA_GTC=110,1147,3043;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_130398.3:missense,NM_006027.4:missense,NM_003686.4:missense;ESP6500_GL=EXO1;ESP6500_GRCh38_POSITION=1:241885372;ESP6500_GS=98,98,98;ESP6500_GTC=192,1793,4518;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_130398.3:c.2270C>T,NM_006027.4:c.2270C>T,NM_003686.4:c.2270C>T;ESP6500_HGVS_PROTEIN_VAR=NM_130398.3:p.(P757L),NM_006027.4:p.(P757L),NM_003686.4:p.(P757L);ESP6500_MAF=15.8953,18.384,16.7384;ESP6500_PH=possibly-damaging:0.827,possibly-damaging:0.827,possibly-damaging:0.827;ESP6500_TAC=2177,10829	GT:AD:DP:GQ:PL	1/1:0,13:13:39:396,39,0
chr1	241889383	rs4150020	C	G	363.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4150020;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_006027.4|protein_coding|13/13|c.2406-82C>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_001319224.1|protein_coding|14/14|c.2403-82C>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_130398.3|protein_coding|15/15|c.2406-82C>G||||||,G|intron_variant|MODIFIER|EXO1|EXO1|transcript|NM_003686.4|protein_coding|13/13|c.2406-84C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1262;p3_1000G_AF=0.251997;p3_1000G_AFR_AF=0.1808;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=18145;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.1521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242052685;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:392,36,0
chr1	242089722	rs7523793	T	C	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=-0.967;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7523793;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|PLD5|PLD5|transcript|NM_152666.2|protein_coding|11/11|c.*132A>G|||||132|,C|3_prime_UTR_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195811.1|protein_coding|10/10|c.*132A>G|||||132|,C|3_prime_UTR_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195812.1|protein_coding|9/9|c.*132A>G|||||132|,C|3_prime_UTR_variant|MODIFIER|PLD5|PLD5|transcript|NM_001320272.1|protein_coding|11/11|c.*132A>G|||||132|;p3_1000G_AA=t|||;p3_1000G_AC=1693;p3_1000G_AF=0.338059;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=18493;p3_1000G_EAS_AF=0.2153;p3_1000G_EUR_AF=0.337;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242253024;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:67:67,0,132
chr1	242124382	rs10926623	T	C	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.04;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10926623;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_152666.2|protein_coding|7/10|c.933+86A>G||||||,C|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195811.1|protein_coding|6/9|c.747+86A>G||||||,C|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195812.1|protein_coding|5/8|c.309+86A>G||||||,C|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001320272.1|protein_coding|7/10|c.657+86A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=560;p3_1000G_AF=0.111821;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=20813;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242287684;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:69:69,0,70
chr1	242219868	rs397692938;rs5782230	T	TAC	177.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.254;SOR=0.963;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5782230;dbSNPBuildID=126,138;ANN=TAC|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_152666.2|protein_coding|6/10|c.735+118_735+119dupGT||||||,TAC|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195811.1|protein_coding|5/9|c.549+118_549+119dupGT||||||,TAC|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195812.1|protein_coding|4/8|c.111+118_111+119dupGT||||||,TAC|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001320272.1|protein_coding|6/10|c.459+118_459+119dupGT||||||;p3_1000G_AC=1891;p3_1000G_AF=0.377596;p3_1000G_AFR_AF=0.292;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=21875;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.2823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242383170;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:11,6:17:99:215,0,438
chr1	242219899	rs1973498	T	G	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.213;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=4.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.609;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1973498;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_152666.2|protein_coding|6/10|c.735+89A>C||||||,G|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195811.1|protein_coding|5/9|c.549+89A>C||||||,G|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195812.1|protein_coding|4/8|c.111+89A>C||||||,G|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001320272.1|protein_coding|6/10|c.459+89A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1892;p3_1000G_AF=0.377796;p3_1000G_AFR_AF=0.292;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=21446;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.2823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242383201;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,13:33:99:312,0,569
chr1	242220208	rs7547029	T	C	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.42;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7547029;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_152666.2|protein_coding|5/10|c.608-93A>G||||||,C|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195811.1|protein_coding|4/9|c.422-93A>G||||||,C|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195812.1|protein_coding|3/8|c.-17-93A>G||||||,C|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001320272.1|protein_coding|5/10|c.332-93A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1891;p3_1000G_AF=0.377596;p3_1000G_AFR_AF=0.292;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=19578;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.2823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242383510;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:175,0,288
chr1	242348254	rs112478548;rs564235862	AACAAAG	A	1178.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.74;QD=31.17;SOR=2.387;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs112478548;dbSNPBuildID=132,142;ANN=A|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_152666.2|protein_coding|2/10|c.190-18_190-13delCTTTGT||||||,A|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195811.1|protein_coding|1/9|c.4-18_4-13delCTTTGT||||||,A|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001195812.1|protein_coding|1/8|c.-273-18_-273-13delCTTTGT||||||,A|intron_variant|MODIFIER|PLD5|PLD5|transcript|NM_001320272.1|protein_coding|2/10|c.-94-18_-94-13delCTTTGT||||||;p3_1000G_AC=3501;p3_1000G_AF=0.699081;p3_1000G_AFR_AF=0.556;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=15081;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.8072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242511556;p3_1000G_GRCH37_REF=AACAAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,27:27:82:1216,82,0
chr1	242524088	rs2810008	G	A	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.381;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.383;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.4;SOR=1.009;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2810008;dbSNPBuildID=100;ANN=A|splice_region_variant&synonymous_variant|LOW|PLD5|PLD5|transcript|NM_152666.2|protein_coding|2/11|c.189C>T|p.His63His|416/3305|189/1611|63/536||,A|splice_region_variant|LOW|PLD5|PLD5|transcript|NM_001320272.1|protein_coding|2/11|c.-95C>T||||||,A|5_prime_UTR_variant|MODIFIER|PLD5|PLD5|transcript|NM_001320272.1|protein_coding|2/11|c.-95C>T|||||175940|;p3_1000G_AA=G|||;p3_1000G_AC=1449;p3_1000G_AF=0.289337;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=12087;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242687390;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,14:36:99:304,0,569
chr1	242975034	rs12131267	G	A	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.615;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.32;MQRankSum=-0.563;QD=3.44;ReadPosRankSum=0.379;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12131267;dbSNPBuildID=120;ANN=A|intergenic_region|MODIFIER|PLD5-LINC01347|PLD5-LINC01347|intergenic_region|PLD5-LINC01347|||n.242975034G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1310;p3_1000G_AF=0.261581;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=15122;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.2962;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243138336;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:73:73,0,241
chr1	242975052	rs12127896	A	G	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=54.46;MQRankSum=0.155;QD=3.05;ReadPosRankSum=1.52;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12127896;dbSNPBuildID=120;ANN=G|intergenic_region|MODIFIER|PLD5-LINC01347|PLD5-LINC01347|intergenic_region|PLD5-LINC01347|||n.242975052A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2536;p3_1000G_AF=0.50639;p3_1000G_AFR_AF=0.3048;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=15056;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.6352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243138354;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:74:74,0,269
chr1	242975101	rs12138844	C	T	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.07;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.021;MLEAC=1;MLEAF=0.5;MQ=49.46;MQRankSum=0.322;QD=6.12;ReadPosRankSum=0.072;SOR=1.133;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12138844;dbSNPBuildID=120;ANN=T|intergenic_region|MODIFIER|PLD5-LINC01347|PLD5-LINC01347|intergenic_region|PLD5-LINC01347|||n.242975101C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1362;p3_1000G_AF=0.271965;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=14495;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.2962;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243138403;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:120,0,266
chr1	242975190	rs369729464	GT	G	189.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.62;QD=34.4;SOR=1.981;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs369729464;dbSNPBuildID=138;ANN=G|intergenic_region|MODIFIER|PLD5-LINC01347|PLD5-LINC01347|intergenic_region|PLD5-LINC01347|||n.242975191delT||||||;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=3135;p3_1000G_AF=0.625998;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=9034;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.8678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243138492;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7362;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:16:1|1:242975190_GT_G:227,16,0
chr1	242975195	rs1188928617	AATGGATC	A	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.07;QD=33.17;SOR=1.981;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|PLD5-LINC01347|PLD5-LINC01347|intergenic_region|PLD5-LINC01347|||n.242975196_242975202delATGGATC||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:242975190_GT_G:225,15,0
chr1	242975204	rs1165803804	AG	A	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.07;QD=27.45;SOR=1.981;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|PLD5-LINC01347|PLD5-LINC01347|intergenic_region|PLD5-LINC01347|||n.242975205delG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:242975190_GT_G:225,15,0
chr1	242975206	rs1419336091	ACCTTCATCGCCCTCTGATCGCCGATCACCTCTGAG	A	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.07;QD=28.38;SOR=1.981;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|PLD5-LINC01347|PLD5-LINC01347|intergenic_region|PLD5-LINC01347|||n.242975207_242975241delCCTTCATCGCCCTCTGATCGCCGATCACCTCTGAG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:242975190_GT_G:225,15,0
chr1	243136134	rs12047774;rs146160146	T	A	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=44.9;MQRankSum=-1.645;QD=9.15;ReadPosRankSum=-0.524;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146160146;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CEP170|CEP170|transcript|NM_014812.2|protein_coding|17/19|c.4319+9A>T||||||,A|intron_variant|MODIFIER|CEP170|CEP170|transcript|NM_001042404.1|protein_coding|16/18|c.4025+9A>T||||||,A|intron_variant|MODIFIER|CEP170|CEP170|transcript|NM_001042405.1|protein_coding|16/18|c.3947+9A>T||||||;ESP6500_AA=T;ESP6500_AA_AC=20,3212;ESP6500_AA_GTC=0,20,1596;ESP6500_CDS_SIZES=NM_014812.2:4755,NM_001042405.1:4383,NM_001042404.1:4461;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=23;ESP6500_EA_AC=262,7012;ESP6500_EA_GTC=4,254,3379;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014812.2:intron,NM_001042405.1:intron,NM_001042404.1:intron;ESP6500_GL=CEP170;ESP6500_GRCh38_POSITION=1:243136134;ESP6500_GTC=4,274,4975;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_014812.2:c.4319+9A>T,NM_001042405.1:c.3947+9A>T,NM_001042404.1:c.4025+9A>T;ESP6500_MAF=3.6019,0.6188,2.6842;ESP6500_TAC=282,10224	GT:AD:DP:GQ:PL	0/1:2,3:5:51:74,0,51
chr1	243191489	rs2631092	C	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=1.366;MLEAC=1;MLEAF=0.5;MQ=48.42;MQRankSum=-5.245;QD=2.54;ReadPosRankSum=2.02;SOR=1.065;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144272877;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|CEP170|CEP170|transcript|NM_014812.2|protein_coding|8/20|c.637G>A|p.Gly213Ser|1045/7184|637/4755|213/1584||,T|missense_variant|MODERATE|CEP170|CEP170|transcript|NM_001042404.1|protein_coding|8/19|c.637G>A|p.Gly213Ser|1045/6890|637/4461|213/1486||,T|missense_variant|MODERATE|CEP170|CEP170|transcript|NM_001042405.1|protein_coding|8/19|c.637G>A|p.Gly213Ser|1045/6812|637/4383|213/1460||;p3_1000G_AA=T|||;p3_1000G_AC=4244;p3_1000G_AF=0.847444;p3_1000G_AFR_AF=0.7428;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs144272877;p3_1000G_DP=12602;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.8787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243354791;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:48,11:59:99:178,0,1290
chr1	243199029	rs2789172	C	T	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.367;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=54.19;MQRankSum=-3.558;QD=8.57;ReadPosRankSum=-1.235;SOR=2.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2789172;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CEP170|CEP170|transcript|NM_014812.2|protein_coding|7/19|c.631+31G>A||||||,T|intron_variant|MODIFIER|CEP170|CEP170|transcript|NM_001042404.1|protein_coding|7/18|c.631+31G>A||||||,T|intron_variant|MODIFIER|CEP170|CEP170|transcript|NM_001042405.1|protein_coding|7/18|c.631+31G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4417;p3_1000G_AF=0.881989;p3_1000G_AFR_AF=0.8169;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=10350;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243362331;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:174,0,306
chr1	243221800	rs185188939	T	C	550.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.452;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs185188939;dbSNPBuildID=135;ANN=C|structural_interaction_variant|HIGH|CEP170|CEP170|interaction|4JON:A_40-A_63:NM_014812.2|protein_coding|3/20|c.119A>G||||||,C|structural_interaction_variant|HIGH|CEP170|CEP170|interaction|4JON:B_40-B_63:NM_014812.2|protein_coding|3/20|c.119A>G||||||,C|structural_interaction_variant|HIGH|CEP170|CEP170|interaction|4JON:A_40-A_63:NM_001042404.1|protein_coding|3/19|c.119A>G||||||,C|structural_interaction_variant|HIGH|CEP170|CEP170|interaction|4JON:B_40-B_63:NM_001042404.1|protein_coding|3/19|c.119A>G||||||,C|structural_interaction_variant|HIGH|CEP170|CEP170|interaction|4JON:A_40-A_63:NM_001042405.1|protein_coding|3/19|c.119A>G||||||,C|structural_interaction_variant|HIGH|CEP170|CEP170|interaction|4JON:B_40-B_63:NM_001042405.1|protein_coding|3/19|c.119A>G||||||,C|missense_variant|MODERATE|CEP170|CEP170|transcript|NM_014812.2|protein_coding|3/20|c.119A>G|p.Asp40Gly|527/7184|119/4755|40/1584||,C|missense_variant|MODERATE|CEP170|CEP170|transcript|NM_001042404.1|protein_coding|3/19|c.119A>G|p.Asp40Gly|527/6890|119/4461|40/1486||,C|missense_variant|MODERATE|CEP170|CEP170|transcript|NM_001042405.1|protein_coding|3/19|c.119A>G|p.Asp40Gly|527/6812|119/4383|40/1460||;p3_1000G_AA=T|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17351;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243385102;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,22:45:99:579,0,537
chr1	243256127	rs3904682;260005	T	A	669.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.79;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3904682;dbSNPBuildID=108;ANN=A|5_prime_UTR_variant|MODIFIER|SDCCAG8|SDCCAG8|transcript|NM_006642.3|protein_coding|1/18|c.-47T>A|||||47|,A|upstream_gene_variant|MODIFIER|CEP170|CEP170|transcript|NM_014812.2|protein_coding||c.-30847A>T|||||721|,A|upstream_gene_variant|MODIFIER|CEP170|CEP170|transcript|NM_001042404.1|protein_coding||c.-30847A>T|||||721|,A|upstream_gene_variant|MODIFIER|CEP170|CEP170|transcript|NM_001042405.1|protein_coding||c.-30847A>T|||||721|;p3_1000G_AA=T|||;p3_1000G_AC=2064;p3_1000G_AF=0.412141;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=16549;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.5209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243419429;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=578,3828;ESP6500_AA_AGE=254.3+/-259.9;ESP6500_AA_GTC=41,496,1666;ESP6500_CDS_SIZES=NM_006642.3:2142;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=50;ESP6500_EA_AC=4417,4183;ESP6500_EA_AGE=585.8+/-391.9;ESP6500_EA_GTC=1124,2169,1007;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006642.3:utr-5;ESP6500_GL=SDCCAG8;ESP6500_GRCh38_POSITION=1:243256127;ESP6500_GTC=1165,2665,2673;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_006642.3:c.-47T>A;ESP6500_MAF=48.6395,13.1185,38.4054;ESP6500_TAC=4995,8011;CLINVAR_AF_ESP=0.3841;CLINVAR_AF_EXAC=0.48523;CLINVAR_AF_TGP=0.4121;CLINVAR_ALLELEID=249845;CLINVAR_CLNDISDB=MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED_CT:5619004|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLINVAR_CLNDN=Bardet-Biedl_syndrome|Renal_dysplasia_and_retinal_aplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.243256127T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4353;CLINVAR_GENEINFO=SDCCAG8:10806;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3904682	GT:AD:DP:GQ:PL	1/1:0,25:25:75:698,75,0
chr1	243307890	rs953492	A	G	600.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs953492;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SDCCAG8|SDCCAG8|transcript|NM_006642.3|protein_coding|7/17|c.741-99A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2574;p3_1000G_AF=0.513978;p3_1000G_AFR_AF=0.3434;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=17777;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243471192;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:629,48,0
chr1	243415810	rs10927011;260009	G	A	534.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10927011;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|SDCCAG8|SDCCAG8|transcript|NM_006642.3|protein_coding|14/18|c.1725G>A|p.Glu575Glu|1894/2617|1725/2142|575/713||;p3_1000G_AA=G|||;p3_1000G_AC=2201;p3_1000G_AF=0.439497;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=19283;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.498;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243579112;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=724,3682;ESP6500_AA_AGE=297.3+/-284.7;ESP6500_AA_GTC=64,596,1543;ESP6500_CDS_SIZES=NM_006642.3:2142;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=75;ESP6500_EA_AC=4377,4223;ESP6500_EA_AGE=582.0+/-391.3;ESP6500_EA_GTC=1102,2173,1025;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006642.3:coding-synonymous;ESP6500_GL=SDCCAG8;ESP6500_GRCh38_POSITION=1:243415810;ESP6500_GTC=1166,2769,2568;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006642.3:c.1725G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006642.3:p.(E575);ESP6500_MAF=49.1047,16.4321,39.2204;ESP6500_TAC=5101,7905;CLINVAR_AF_ESP=0.3922;CLINVAR_AF_EXAC=0.48892;CLINVAR_AF_TGP=0.4395;CLINVAR_ALLELEID=249854;CLINVAR_CLNDISDB=MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED_CT:5619004|MedGen:C3150877,OMIM:613615|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLINVAR_CLNDN=Bardet-Biedl_syndrome|Senior-Loken_syndrome_7|Renal_dysplasia_and_retinal_aplasia|not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.243415810G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:4367;CLINVAR_GENEINFO=SDCCAG8:10806;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10927011	GT:AD:DP:GQ:PL	1/1:0,17:17:51:563,51,0
chr1	244364555	rs10927214	T	C	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.526;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-1.294;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10927214;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|C1orf100|C1orf100|transcript|NM_001012970.2|protein_coding|1/4|c.-13-133T>C||||||,C|intron_variant|MODIFIER|C1orf100|C1orf100|transcript|NM_001276348.1|protein_coding|1/4|c.-13-133T>C||||||,C|intron_variant|MODIFIER|C1orf100|C1orf100|transcript|NM_001276349.1|protein_coding|1/3|c.-13-133T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1267;p3_1000G_AF=0.252995;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=17160;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.4801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=244527857;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:215,0,124
chr1	244364825	rs9782996	T	C	822.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9782996;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|C1orf100|C1orf100|transcript|NM_001012970.2|protein_coding|2/4|c.56+69T>C||||||,C|intron_variant|MODIFIER|C1orf100|C1orf100|transcript|NM_001276348.1|protein_coding|2/4|c.56+69T>C||||||,C|intron_variant|MODIFIER|C1orf100|C1orf100|transcript|NM_001276349.1|protein_coding|2/3|c.56+69T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3957;p3_1000G_AF=0.790136;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.8458;p3_1000G_AN=5008;p3_1000G_DP=17581;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.7654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=244528127;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=934,450;ESP6500_AA_GTC=319,296,77;ESP6500_CDS_SIZES=NM_001012970.1:444;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=50;ESP6500_EA_AC=2352,830;ESP6500_EA_GTC=869,614,108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001012970.1:intron;ESP6500_GL=C1orf100;ESP6500_GRCh38_POSITION=1:244364825;ESP6500_GTC=1188,910,185;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001012970.1:c.56+69T>C;ESP6500_MAF=26.0842,32.5145,28.0333;ESP6500_TAC=3286,1280	GT:AD:DP:GQ:PL	1/1:0,25:25:75:851,75,0
chr1	244417854	rs6661148	C	A	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=1.04;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6661148;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ADSS|ADSS|transcript|NM_001126.3|protein_coding|9/12|c.946-102G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=651;p3_1000G_AF=0.129992;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=16516;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=244581156;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,109
chr1	244437850	rs3127465	C	T	270.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3127465;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|ADSS|ADSS|transcript|NM_001126.3|protein_coding|1/12|c.184-82G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4115;p3_1000G_AF=0.821685;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=17987;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.832;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=244601152;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:299,27,0
chr1	244461333	rs3006006	G	C	177.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.16;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3006006;dbSNPBuildID=101;ANN=C|upstream_gene_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001130957.1|protein_coding||c.-97G>C|||||38|,C|upstream_gene_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001242340.1|protein_coding||c.-57283G>C|||||38|,C|upstream_gene_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_173807.4|protein_coding||c.-97G>C|||||38|,C|intergenic_region|MODIFIER|ADSS-C1orf101|ADSS-C1orf101|intergenic_region|ADSS-C1orf101|||n.244461333G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=3273;p3_1000G_AF=0.653554;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=11315;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=244624635;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4059;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:206,15,0
chr1	244461585	rs3124058	T	C	192.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3124058;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001130957.1|protein_coding|1/21|c.65+91T>C||||||,C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001242340.1|protein_coding|1/18|c.-237+91T>C||||||,C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_173807.4|protein_coding|1/20|c.65+91T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3172;p3_1000G_AF=0.633387;p3_1000G_AFR_AF=0.6914;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=11633;p3_1000G_EAS_AF=0.7361;p3_1000G_EUR_AF=0.6352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=244624887;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:221,18,0
chr1	244490479	rs143247582	AT	A	263.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.768;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.1;SOR=0.627;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143247582;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001130957.1|protein_coding|6/21|c.351+14delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001242340.1|protein_coding|4/18|c.-25+10701delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_173807.4|protein_coding|6/20|c.351+14delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTT|TTTTTT|TTTTT|deletion;p3_1000G_AC=425;p3_1000G_AF=0.0848642;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=16155;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.0934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=244653781;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=INDEL;ESP6500_AA_AC=206,4034;ESP6500_AA_GTC=4,198,1918;ESP6500_CDS_SIZES=NM_173807.4:2499,NM_001242340.1:2403,NM_001130957.1:2856;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=57;ESP6500_EA_AC=936,7260;ESP6500_EA_GTC=56,824,3218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173807.4:intron,NM_001242340.1:intron,NM_001130957.1:intron;ESP6500_GL=C1orf101;ESP6500_GRCh38_POSITION=1:244490479;ESP6500_GTC=60,1022,5136;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_173807.4:c.351+9del1,NM_001242340.1:c.-28136del1,NM_001130957.1:c.351+9del1;ESP6500_MAF=11.4202,4.8585,9.183;ESP6500_TAC=1142,11294	GT:AD:DP:GQ:PL	0/1:15,12:27:99:301,0,388
chr1	244610482	rs6698173	T	C	188.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6698173;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001130957.1|protein_coding|19/21|c.2490+156T>C||||||,C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001242340.1|protein_coding|16/18|c.2037+156T>C||||||,C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_173807.4|protein_coding|19/20|c.2490+156T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3745;p3_1000G_AF=0.747804;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=17698;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.8449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=244773784;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:217,15,0
chr1	244639903	rs558551647;rs60280231;rs796634251	CTT	C	1116.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.784;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=34.9;ReadPosRankSum=1.69;SOR=0.43;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60280231;dbSNPBuildID=130,142,146;ANN=C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001130957.1|protein_coding|21/21|c.2703-12_2703-11delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_001242340.1|protein_coding|18/18|c.2250-12_2250-11delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|C1orf101|C1orf101|transcript|NM_173807.4|protein_coding|20/20|c.*46-12_*46-11delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,31:32:82:1154,82,0
chr1	244848912	rs1284364747;rs34871652	G	GA	67.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.053;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.336;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=1.16;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34871652;dbSNPBuildID=151,126;ANN=GA|downstream_gene_variant|MODIFIER|COX20|COX20|transcript|NM_001312872.1|protein_coding||c.*5736_*5737insA|||||3850|,GA|downstream_gene_variant|MODIFIER|HNRNPU|HNRNPU|transcript|NM_031844.2|protein_coding||c.*5537_*5538insT|||||1387|,GA|downstream_gene_variant|MODIFIER|COX20|COX20|transcript|NM_001312871.1|protein_coding||c.*5736_*5737insA|||||3850|,GA|downstream_gene_variant|MODIFIER|COX20|COX20|transcript|NM_198076.5|protein_coding||c.*5736_*5737insA|||||3850|,GA|downstream_gene_variant|MODIFIER|COX20|COX20|transcript|NM_001312873.1|protein_coding||c.*5736_*5737insA|||||3850|,GA|downstream_gene_variant|MODIFIER|COX20|COX20|transcript|NM_001312874.1|protein_coding||c.*6685_*6686insA|||||3850|,GA|downstream_gene_variant|MODIFIER|COX20|COX20|transcript|NR_132419.1|pseudogene||n.*3849_*3850insA|||||3850|,GA|downstream_gene_variant|MODIFIER|COX20|COX20|transcript|NR_132420.1|pseudogene||n.*3849_*3850insA|||||3850|,GA|downstream_gene_variant|MODIFIER|COX20|COX20|transcript|NR_132421.1|pseudogene||n.*3849_*3850insA|||||3850|,GA|downstream_gene_variant|MODIFIER|HNRNPU|HNRNPU|transcript|NM_004501.3|protein_coding||c.*5537_*5538insT|||||1387|,GA|intergenic_region|MODIFIER|COX20-HNRNPU|COX20-HNRNPU|intergenic_region|COX20-HNRNPU|||n.244848912_244848913insA||||||	GT:AD:DP:GQ:PL	0/1:11,6:17:99:105,0,237
chr1	244864047	rs6675421	C	T	748.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.485;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.543;SOR=0.601;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6675421;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|HNRNPU|HNRNPU|transcript|NM_031844.2|protein_coding|1/14|c.261G>A|p.Glu87Glu|479/6846|261/2478|87/825||,T|synonymous_variant|LOW|HNRNPU|HNRNPU|transcript|NM_004501.3|protein_coding|1/14|c.261G>A|p.Glu87Glu|479/6789|261/2421|87/806||;p3_1000G_AA=C|||;p3_1000G_AC=1428;p3_1000G_AF=0.285144;p3_1000G_AFR_AF=0.4017;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=13947;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.2644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245027349;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP;ESP6500_AA_AC=1397,2783;ESP6500_AA_GTC=245,907,938;ESP6500_CDS_SIZES=NM_031844.2:2478,NM_004501.3:2421;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=8;ESP6500_EA_AC=1866,6558;ESP6500_EA_GTC=215,1436,2561;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031844.2:coding-synonymous,NM_004501.3:coding-synonymous;ESP6500_GL=HNRNPU;ESP6500_GRCh38_POSITION=1:244864047;ESP6500_GTC=460,2343,3499;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_031844.2:c.261G>A,NM_004501.3:c.261G>A;ESP6500_HGVS_PROTEIN_VAR=NM_031844.2:p.(E87),NM_004501.3:p.(E87);ESP6500_MAF=22.151,33.4211,25.8886;ESP6500_TAC=3263,9341	GT:AD:DP:GQ:PL	0/1:23,28:51:99:777,0,804
chr1	244970187	rs7545078	T	G	475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.99;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7545078;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding||c.-31991T>G|||||142|,G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding||c.-232T>G|||||142|,G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene||n.-142T>G|||||142|,G|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-208A>C||||||,G|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|1/7|c.-90-142T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2442;p3_1000G_AF=0.48762;p3_1000G_AFR_AF=0.1778;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=9759;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.5586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245133489;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:504,51,0
chr1	244970237	rs7542813	A	G	585.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.1;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7542813;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding||c.-31941A>G|||||92|,G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding||c.-182A>G|||||92|,G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene||n.-92A>G|||||92|,G|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-258T>C||||||,G|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|1/7|c.-90-92A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=6921;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245133539;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:244970237_A_G:614,45,0
chr1	244970247	rs10536649	GGC	G	527.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.08;SOR=0.836;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10536649;dbSNPBuildID=135;ANN=G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding||c.-31930_-31929delGC|||||81|,G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding||c.-171_-170delGC|||||81|,G|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene||n.-81_-80delGC|||||81|,G|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-270_59-269delGC||||||,G|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|1/7|c.-90-75_-90-74delGC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2414;p3_1000G_AF=0.482029;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=6864;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.5577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245133549;p3_1000G_GRCH37_REF=GGC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:39:1|1:244970237_A_G:565,39,0
chr1	244970267	.	T	TC	18.79	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.232;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=20.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=-1.383;SOR=2.774;INS;HET;VARTYPE=INS;ANN=TC|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding||c.-31911_-31910insC|||||61|,TC|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding||c.-152_-151insC|||||61|,TC|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene||n.-62_-61insC|||||61|,TC|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-289dupG||||||,TC|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|1/7|c.-90-58dupC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,3:10:56:0|1:244970267_T_TC:56,0,278
chr1	244970272	rs1222658003	G	C	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.352;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=20.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=-1.834;SOR=2.774;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding||c.-31906G>C|||||57|,C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding||c.-147G>C|||||57|,C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene||n.-57G>C|||||57|,C|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-293C>G||||||,C|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|1/7|c.-90-57G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,3:10:56:0|1:244970267_T_TC:56,0,278
chr1	244970277	rs1489743644	G	C	17.84	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=16.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=-0.842;SOR=2.199;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding||c.-31901G>C|||||52|,C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding||c.-142G>C|||||52|,C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene||n.-52G>C|||||52|,C|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-298C>G||||||,C|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|1/7|c.-90-52G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,2:10:46:0|1:244970267_T_TC:46,0,323
chr1	244970282	rs1420672073	G	C	17.84	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=16.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=-1.348;SOR=2.199;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding||c.-31896G>C|||||47|,C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding||c.-137G>C|||||47|,C|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene||n.-47G>C|||||47|,C|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-303C>G||||||,C|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|1/7|c.-90-47G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,2:10:46:0|1:244970267_T_TC:46,0,323
chr1	244970321	rs145835471	T	TCCTCC	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.45;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs145835471,rs78699431;dbSNPBuildID=134;ANN=TCCTCC|splice_acceptor_variant&intron_variant|HIGH|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|1/7|c.-90-7_-90-3dupCCTCC||||||INFO_REALIGN_3_PRIME,TCCTCC|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding||c.-31857_-31856insCCTCC|||||7|,TCCTCC|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding||c.-98_-97insCCTCC|||||7|,TCCTCC|upstream_gene_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene||n.-8_-7insCCTCC|||||7|,TCCTCC|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-347_59-343dupGGAGG||||||;LOF=(EFCAB2|EFCAB2|4|0.25);p3_1000G_AC=2490;p3_1000G_AF=0.497204;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=8334;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245133623;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:450,30,0
chr1	244970360	rs61844237	G	C	444.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.65;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61844237;dbSNPBuildID=129;ANN=C|5_prime_UTR_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding|1/8|c.-141G>C|||||31818|,C|5_prime_UTR_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|2/8|c.-59G>C|||||59|,C|5_prime_UTR_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding|1/7|c.-59G>C|||||59|,C|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.59-381C>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene|1/6|n.32G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1859;p3_1000G_AF=0.371206;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=8762;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.4712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245133662;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:473,45,0
chr1	244970455	rs201117436	G	C	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.449;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201117436;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|LOC101928068|LOC101928068|transcript|NR_111907.1|pseudogene|1/1|n.58+357C>G||||||,C|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding|1/7|c.-58+12G>C||||||,C|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|2/7|c.25+12G>C||||||,C|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding|1/6|c.25+12G>C||||||,C|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene|1/5|n.115+12G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=31;p3_1000G_AF=0.0061901;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=5898;p3_1000G_EAS_AF=0.0308;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245133757;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:152,0,145
chr1	245059332	rs694793	C	G	630.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs694793;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding|3/7|c.141-54C>G||||||,G|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|3/7|c.111-54C>G||||||,G|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding|2/6|c.111-54C>G||||||,G|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene|1/5|n.116-54C>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4435;p3_1000G_AF=0.885583;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=18607;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245222634;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8804;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1140,244;ESP6500_AA_GTC=468,204,20;ESP6500_CDS_SIZES=NM_032328.3:489,NM_001143943.1:402;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=16;ESP6500_EA_AC=3165,15;ESP6500_EA_GTC=1575,15,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032328.3:intron,NM_001143943.1:intron;ESP6500_GL=EFCAB2;ESP6500_GRCh38_POSITION=1:245059332;ESP6500_GTC=2043,219,20;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_032328.3:c.111-54C>G,NM_001143943.1:c.111-54C>G;ESP6500_MAF=0.4717,17.6301,5.6748;ESP6500_TAC=4305,259	GT:AD:DP:GQ:PL	1/1:0,20:20:60:659,60,0
chr1	245059537	rs579269	G	T	203.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs579269;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding|4/7|c.213+79G>T||||||,T|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|4/7|c.183+79G>T||||||,T|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding|3/6|c.183+79G>T||||||,T|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene|2/5|n.188+79G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4884;p3_1000G_AF=0.97524;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17513;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245222839;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:232,21,0
chr1	245083878	rs10754849	G	A	1439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=2.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10754849;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001290327.1|protein_coding|7/7|c.403+190G>A||||||,A|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_032328.3|protein_coding|7/7|c.373+190G>A||||||,A|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding|6/6|c.373+190G>A||||||,A|intron_variant|MODIFIER|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene|5/5|n.378+190G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2283;p3_1000G_AF=0.455871;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=15276;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.4761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245247180;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1468,132,0
chr1	245121895	rs113816497	C	CTTATT	117.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=2.45;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113816497,rs200396924;dbSNPBuildID=132;ANN=CTTATT|splice_acceptor_variant&intron_variant|HIGH|EFCAB2|EFCAB2|transcript|NM_001143943.1|protein_coding|6/6|c.374-6_374-2dupTTTTA||||||INFO_REALIGN_3_PRIME,CTTATT|splice_acceptor_variant&intron_variant|HIGH|EFCAB2|EFCAB2|transcript|NR_026587.1|pseudogene|5/5|n.379-6_379-2dupTTTTA||||||INFO_REALIGN_3_PRIME;LOF=(EFCAB2|EFCAB2|4|0.25)	GT:AD:DP:GQ:PL	0/1:4,4:8:99:155,0,235
chr1	245155386	rs12409851	C	T	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.339;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.518;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.686;SOR=1.032;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12409851;dbSNPBuildID=120;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|1/15|c.-39C>T||||||,T|5_prime_UTR_variant|MODIFIER|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|1/15|c.-39C>T|||||39|;p3_1000G_AA=T|||;p3_1000G_AC=2031;p3_1000G_AF=0.405551;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=16104;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245318688;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=878,2914;ESP6500_AA_GTC=108,662,1126;ESP6500_CDS_SIZES=NM_018012.3:6327;ESP6500_CG=1.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=3241,4991;ESP6500_EA_GTC=614,2013,1489;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018012.3:utr-5;ESP6500_GL=KIF26B;ESP6500_GRCh38_POSITION=1:245155386;ESP6500_GTC=722,2675,2615;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018012.3:c.-39C>T;ESP6500_MAF=39.3707,23.154,34.2565;ESP6500_TAC=4119,7905	GT:AD:DP:GQ:PL	0/1:13,15:28:99:359,0,361
chr1	245609227	rs7555351	A	G	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.264;SOR=0.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7555351;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|7/14|c.1652-39A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=632;p3_1000G_AF=0.126198;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=17634;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.0815;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245772529;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0767;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=298,3504;ESP6500_AA_GTC=9,280,1612;ESP6500_CDS_SIZES=NM_018012.3:6327;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=33;ESP6500_EA_AC=535,7699;ESP6500_EA_GTC=23,489,3605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018012.3:intron;ESP6500_GL=KIF26B;ESP6500_GRCh38_POSITION=1:245609227;ESP6500_GTC=32,769,5217;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018012.3:c.1652-39A>G;ESP6500_MAF=6.4974,7.838,6.9209;ESP6500_TAC=833,11203	GT:AD:DP:GQ:PL	0/1:13,8:21:99:241,0,417
chr1	245612054	rs1183811795;rs56802914	TTGTGTGTGTGTG	T	219.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.623;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.88;MQRankSum=-0.431;QD=31.05;ReadPosRankSum=0;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs56802914;dbSNPBuildID=151,129;ANN=T|intron_variant|MODIFIER|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|9/14|c.2098+119_2098+130delTGTGTGTGTGTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,3:5:92:257,0,92
chr1	245684413	rs149909437	TG	T	534.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.982;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.1;ReadPosRankSum=0.717;SOR=1.101;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs149909437;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|11/14|c.2421+25delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|GGGGGGG|GGGGGG|unsure;p3_1000G_AC=367;p3_1000G_AF=0.0732827;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=17040;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245847715;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=INDEL;ESP6500_AA_AC=278,3362;ESP6500_AA_GTC=29,220,1571;ESP6500_CDS_SIZES=NM_018012.3:6327;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=10;ESP6500_EA_AC=103,7677;ESP6500_EA_GTC=2,99,3789;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018012.3:intron;ESP6500_GL=KIF26B;ESP6500_GRCh38_POSITION=1:245684413;ESP6500_GTC=31,319,5360;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018012.3:c.2421+19del1;ESP6500_MAF=1.3239,7.6374,3.3363;ESP6500_TAC=381,11039	GT:AD:DP:GQ:PL	0/1:7,21:28:99:572,0,132
chr1	245686427	rs3820246;403008	G	A	551.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.081;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.124;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.91;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820246;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|12/15|c.3444G>A|p.Pro1148Pro|3884/7287|3444/6327|1148/2108||;p3_1000G_AA=G|||;p3_1000G_AC=261;p3_1000G_AF=0.0521166;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=18799;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245849729;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0286;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=43,4159;ESP6500_AA_GTC=0,43,2058;ESP6500_CDS_SIZES=NM_018012.3:6327;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=70;ESP6500_EA_AC=88,8342;ESP6500_EA_GTC=1,86,4128;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018012.3:coding-synonymous;ESP6500_GL=KIF26B;ESP6500_GRCh38_POSITION=1:245686427;ESP6500_GTC=1,129,6186;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018012.3:c.3444G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018012.3:p.(P1148);ESP6500_MAF=1.0439,1.0233,1.037;ESP6500_TAC=131,12501;CLINVAR_ALLELEID=389389;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.245686427G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KIF26B:55083;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3820246	GT:AD:DP:GQ:PL	0/1:26,22:48:99:580,0,729
chr1	245687204	rs3806273;403009	G	C	690.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.873;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=10.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.309;SOR=1.232;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806273;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|12/15|c.4221G>C|p.Pro1407Pro|4661/7287|4221/6327|1407/2108||;p3_1000G_AA=C|||;p3_1000G_AC=403;p3_1000G_AF=0.0804712;p3_1000G_AFR_AF=0.1074;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=15577;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245850506;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=370,3422;ESP6500_AA_GTC=16,338,1542;ESP6500_CDS_SIZES=NM_018012.3:6327;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=31;ESP6500_EA_AC=134,8074;ESP6500_EA_GTC=2,130,3972;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018012.3:coding-synonymous;ESP6500_GL=KIF26B;ESP6500_GRCh38_POSITION=1:245687204;ESP6500_GTC=18,468,5514;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018012.3:c.4221G>C;ESP6500_HGVS_PROTEIN_VAR=NM_018012.3:p.(P1407);ESP6500_MAF=1.6326,9.7574,4.2;ESP6500_TAC=504,11496;CLINVAR_ALLELEID=389430;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.245687204G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KIF26B:55083;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3806273	GT:AD:DP:GQ:PL	0/1:23,28:51:99:719,0,635
chr1	245687987	rs58427858;403010	G	T	1104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.398;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=1.07;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58427858;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|12/15|c.5004G>T|p.Ser1668Ser|5444/7287|5004/6327|1668/2108||;p3_1000G_AA=C|||;p3_1000G_AC=282;p3_1000G_AF=0.0563099;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=14006;p3_1000G_EAS_AF=0.1111;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245851289;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=12,3974;ESP6500_AA_GTC=0,12,1981;ESP6500_CDS_SIZES=NM_018012.3:6327;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=8;ESP6500_EA_AC=82,8102;ESP6500_EA_GTC=1,80,4011;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018012.3:coding-synonymous;ESP6500_GL=KIF26B;ESP6500_GRCh38_POSITION=1:245687987;ESP6500_GTC=1,92,5992;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018012.3:c.5004G>T;ESP6500_HGVS_PROTEIN_VAR=NM_018012.3:p.(S1668);ESP6500_MAF=1.002,0.3011,0.7724;ESP6500_TAC=94,12076;CLINVAR_ALLELEID=389392;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.245687987G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KIF26B:55083;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=58427858	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,45:72:99:0|1:245687987_G_T:1133,0,722
chr1	245688002	rs6701084	A	G	3075.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6701084;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|12/15|c.5019A>G|p.Thr1673Thr|5459/7287|5019/6327|1673/2108||;p3_1000G_AA=G|||;p3_1000G_AC=4957;p3_1000G_AF=0.989816;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=13765;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245851304;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3913,11;ESP6500_AA_GTC=1951,11,0;ESP6500_CDS_SIZES=NM_018012.3:6327;ESP6500_CG=-5.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=7;ESP6500_EA_AC=7897,171;ESP6500_EA_GTC=3865,167,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018012.3:coding-synonymous;ESP6500_GL=KIF26B;ESP6500_GRCh38_POSITION=1:245688002;ESP6500_GTC=5816,178,2;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018012.3:c.5019A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018012.3:p.(T1673);ESP6500_MAF=2.1195,0.2803,1.5177;ESP6500_TAC=11810,182	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,78:78:99:1|1:245687987_G_T:3104,235,0
chr1	245698269	rs3205034	C	T	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.869;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=-0.549;SOR=0.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3205034;dbSNPBuildID=105;ANN=T|synonymous_variant|LOW|KIF26B|KIF26B|transcript|NM_018012.3|protein_coding|13/15|c.5988C>T|p.Asp1996Asp|6428/7287|5988/6327|1996/2108||;p3_1000G_AA=C|||;p3_1000G_AC=2005;p3_1000G_AF=0.400359;p3_1000G_AFR_AF=0.3298;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=15359;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.5537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245861571;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1585,2347;ESP6500_AA_GTC=317,951,698;ESP6500_CDS_SIZES=NM_018012.3:6327;ESP6500_CG=-0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=32;ESP6500_EA_AC=4850,3442;ESP6500_EA_GTC=1400,2050,696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018012.3:coding-synonymous;ESP6500_GL=KIF26B;ESP6500_GRCh38_POSITION=1:245698269;ESP6500_GTC=1717,3001,1394;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018012.3:c.5988C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018012.3:p.(D1996);ESP6500_MAF=41.5099,40.3103,47.3577;ESP6500_TAC=6435,5789	GT:AD:DP:GQ:PL	0/1:15,9:24:99:183,0,410
chr1	245749538	rs8025	C	T	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.448;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.411;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=-1.541;SOR=1.151;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8025;dbSNPBuildID=52;ANN=T|3_prime_UTR_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|12/12|c.*25G>A|||||25|,T|3_prime_UTR_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|12/12|c.*25G>A|||||25|;p3_1000G_AA=C|||;p3_1000G_AC=1743;p3_1000G_AF=0.348043;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=21611;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.2217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245912840;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1293,3113;ESP6500_AA_AGE=438.8+/-345.5;ESP6500_AA_GTC=194,905,1104;ESP6500_CDS_SIZES=NM_022743.2:1110,NM_001167740.1:1287;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=103;ESP6500_EA_AC=2072,6528;ESP6500_EA_AGE=358.4+/-331.1;ESP6500_EA_GTC=271,1530,2499;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022743.2:utr-3,NM_001167740.1:utr-3;ESP6500_GL=SMYD3;ESP6500_GRCh38_POSITION=1:245749538;ESP6500_GTC=465,2435,3603;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022743.2:c.*25G>A,NM_001167740.1:c.*25G>A;ESP6500_MAF=24.093,29.3463,25.8727;ESP6500_TAC=3365,9641	GT:AD:DP:GQ:PL	0/1:38,19:57:99:411,0,933
chr1	245763940	rs12035406	G	A	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=6.56;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.689;SOR=3.014;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12035406;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|11/11|c.1185+101C>T||||||,A|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|11/11|c.1008+101C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=889;p3_1000G_AF=0.177516;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=18790;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=245927242;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:292,0,296
chr1	245858639	rs2362587	T	C	1832.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=1.123;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2362587;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|10/12|c.933A>G|p.Ala311Ala|1058/1635|933/1287|311/428||,C|synonymous_variant|LOW|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|10/12|c.756A>G|p.Ala252Ala|886/1463|756/1110|252/369||;p3_1000G_AA=C|||;p3_1000G_AC=1950;p3_1000G_AF=0.389377;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=20980;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246021941;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1274,3132;ESP6500_AA_AGE=700.0+/-406.6;ESP6500_AA_GTC=179,916,1108;ESP6500_CDS_SIZES=NM_022743.2:1110,NM_001167740.1:1287;ESP6500_CG=-2.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=149;ESP6500_EA_AC=6179,2421;ESP6500_EA_AGE=399.6+/-346.5;ESP6500_EA_GTC=2222,1735,343;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022743.2:coding-synonymous,NM_001167740.1:coding-synonymous;ESP6500_GL=SMYD3;ESP6500_GRCh38_POSITION=1:245858639;ESP6500_GTC=2401,2651,1451;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022743.2:c.756A>G,NM_001167740.1:c.933A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022743.2:p.(A252),NM_001167740.1:p.(A311);ESP6500_MAF=28.1512,28.9151,42.6957;ESP6500_TAC=7453,5553	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1861,177,0
chr1	245858769	rs2185370	C	T	658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2185370;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|9/11|c.902-99G>A||||||,T|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|9/11|c.725-99G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1926;p3_1000G_AF=0.384585;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=19386;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246022071;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:687,60,0
chr1	245863722	rs12123124	A	G	1468.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=2.517;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12123124;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|9/11|c.901+77T>C||||||,G|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|9/11|c.724+77T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1955;p3_1000G_AF=0.390375;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=17537;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246027024;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,33:33:99:1|1:245863722_A_G:1497,102,0
chr1	245863727	rs61830203	A	T	1411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31;SOR=2.165;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61830203;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|9/11|c.901+72T>A||||||,T|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|9/11|c.724+72T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1955;p3_1000G_AF=0.390375;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=17677;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246027029;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:96:1|1:245863722_A_G:1440,96,0
chr1	245863732	rs2153404	G	C	1485.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.18;SOR=1.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2153404;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|9/11|c.901+67C>G||||||,C|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|9/11|c.724+67C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4961;p3_1000G_AF=0.990615;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17798;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246027034;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:245863722_A_G:1514,105,0
chr1	246326404	rs57404221;rs796527634	GA	G	293.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.197;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.171;SOR=0.551;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs57404221;dbSNPBuildID=137,146;ANN=G|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|5/11|c.531+796delT||||||,G|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|5/11|c.354+796delT||||||	GT:AD:DP:GQ:PL	0/1:8,14:22:99:331,0,160
chr1	246326467	rs367922653	TA	T	112.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.365;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs367922653;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|5/11|c.531+733delT||||||,T|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|5/11|c.354+733delT||||||	GT:AD:DP:GQ:PL	0/1:4,7:11:71:150,0,71
chr1	246327136	rs3737245	T	C	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.57;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737245;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|5/11|c.531+65A>G||||||,C|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|5/11|c.354+65A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4088;p3_1000G_AF=0.816294;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=20188;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246490438;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:246327136_T_C:630,42,0
chr1	246327140	rs3737246	A	G	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3737246;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|5/11|c.531+61T>C||||||,G|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|5/11|c.354+61T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4088;p3_1000G_AF=0.816294;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=20226;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246490442;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:246327136_T_C:630,42,0
chr1	246327150	rs3737247	G	A	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.782;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.293;SOR=0.035;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737247;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|5/11|c.531+51C>T||||||,A|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|5/11|c.354+51C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2164;p3_1000G_AF=0.432109;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=20364;p3_1000G_EAS_AF=0.1716;p3_1000G_EUR_AF=0.662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246490452;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2078,2328;ESP6500_AA_AGE=563.5+/-381.2;ESP6500_AA_GTC=479,1120,604;ESP6500_CDS_SIZES=NM_022743.2:1110,NM_001167740.1:1287;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=84;ESP6500_EA_AC=5365,3235;ESP6500_EA_AGE=645.2+/-400.1;ESP6500_EA_GTC=1679,2007,614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022743.2:intron,NM_001167740.1:intron;ESP6500_GL=SMYD3;ESP6500_GRCh38_POSITION=1:246327150;ESP6500_GTC=2158,3127,1218;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022743.2:c.354+51C>T,NM_001167740.1:c.531+51C>T;ESP6500_MAF=37.6163,47.163,42.7726;ESP6500_TAC=7443,5563	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,8:15:99:0|1:246327136_T_C:218,0,254
chr1	246335564	rs10159376	A	C	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.78;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=1.28;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10159376;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|2/11|c.229-90T>G||||||,C|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_022743.2|protein_coding|2/11|c.52-90T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2268;p3_1000G_AF=0.452875;p3_1000G_AFR_AF=0.4894;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=18931;p3_1000G_EAS_AF=0.1716;p3_1000G_EUR_AF=0.6988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246498866;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:261,0,252
chr1	246506979	rs6671418	G	C	41.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6671418;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|1/11|c.164+75C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=7055;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246670281;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:246506979_G_C:69,6,0
chr1	246506997	rs10603677	CT	C	164.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.47;SOR=1.329;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10603677;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|1/11|c.164+56delA||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:246506979_G_C:202,18,0
chr1	246507031	rs6426303	A	G	713.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6426303;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|1/11|c.164+23T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4925;p3_1000G_AF=0.983427;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=8143;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246670333;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:742,57,0
chr1	246507179	rs7520453	C	G	2125.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=0.91;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7520453;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|SMYD3|SMYD3|transcript|NM_001167740.1|protein_coding|1/12|c.39G>C|p.Lys13Asn|164/1635|39/1287|13/428||;p3_1000G_AA=G|||;p3_1000G_AC=3749;p3_1000G_AF=0.748602;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=11891;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.8618;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246670481;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7873;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=757,627;ESP6500_AA_GTC=204,349,139;ESP6500_CDS_SIZES=NM_001167740.1:1287;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=38;ESP6500_EA_AC=2789,393;ESP6500_EA_GTC=1216,357,18;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001167740.1:missense;ESP6500_GL=SMYD3;ESP6500_GRCh38_POSITION=1:246507179;ESP6500_GS=94;ESP6500_GTC=1420,706,157;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001167740.1:c.39G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001167740.1:p.(K13N);ESP6500_MAF=12.3507,45.3035,22.339;ESP6500_PH=benign:0.0;ESP6500_TAC=3546,1020	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2154,207,0
chr1	246548514	rs5782396	GA	G	45.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.524;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5782396;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|6/7|c.858+30delT||||||;p3_1000G_AA=AAAAA|AAAAA|AAAA|deletion;p3_1000G_AC=1660;p3_1000G_AF=0.33147;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=13730;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246711816;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,3:5:50:83,0,50
chr1	246548731	rs1890160	A	G	143.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1890160;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|5/7|c.796-124T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15402;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246712033;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:171,12,0
chr1	246551124	rs12140400	A	G	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.54;ReadPosRankSum=2.12;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12140400;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|5/7|c.795+89T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=812;p3_1000G_AF=0.162141;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=17386;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246714426;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,13:18:99:434,0,127
chr1	246551285	rs10754526	G	A	588.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.449;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=1.13;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10754526;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|5/8|c.723C>T|p.Pro241Pro|848/1786|723/1191|241/396||;p3_1000G_AA=G|||;p3_1000G_AC=2066;p3_1000G_AF=0.41254;p3_1000G_AFR_AF=0.4312;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=20072;p3_1000G_EAS_AF=0.3423;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246714587;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2049,2357;ESP6500_AA_AGE=562.1+/-380.9;ESP6500_AA_GTC=493,1063,647;ESP6500_CDS_SIZES=NM_022366.2:1191;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=71;ESP6500_EA_AC=4096,4504;ESP6500_EA_AGE=558.6+/-387.3;ESP6500_EA_GTC=1012,2072,1216;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022366.2:coding-synonymous;ESP6500_GL=TFB2M;ESP6500_GRCh38_POSITION=1:246551285;ESP6500_GTC=1505,3135,1863;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022366.2:c.723C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022366.2:p.(P241);ESP6500_MAF=47.6279,46.5048,47.2474;ESP6500_TAC=6145,6861	GT:AD:DP:GQ:PL	0/1:18,23:41:99:617,0,445
chr1	246551329	rs80342781	T	A	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.41;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=-0.301;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80342781;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|4/7|c.706-27A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2051;p3_1000G_AF=0.409545;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=19567;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.4692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246714631;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,15:29:99:0|1:246551329_T_A:567,0,841
chr1	246551330	rs75477023	G	A	573.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.315;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.49;ReadPosRankSum=0.025;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75477023;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|4/7|c.706-28C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2055;p3_1000G_AF=0.410343;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=19800;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.4702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246714632;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,14:28:99:0|1:246551329_T_A:602,0,838
chr1	246551334	rs34850511	T	A	554.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.62;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.34;ReadPosRankSum=0.086;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34850511;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|4/7|c.706-32A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2055;p3_1000G_AF=0.410343;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=20057;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.4702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246714636;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1959,2445;ESP6500_AA_GTC=473,1013,716;ESP6500_CDS_SIZES=NM_022366.2:1191;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=32;ESP6500_EA_AC=4010,4590;ESP6500_EA_GTC=1006,1998,1296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022366.2:intron;ESP6500_GL=TFB2M;ESP6500_GRCh38_POSITION=1:246551334;ESP6500_GTC=1479,3011,2012;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_022366.2:c.706-32A>T;ESP6500_MAF=46.6279,44.4823,45.9013;ESP6500_TAC=5969,7035	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,14:26:99:0|1:246551329_T_A:583,0,784
chr1	246551426	rs9426201	G	A	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0.967;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9426201;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|4/7|c.706-124C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2901;p3_1000G_AF=0.579273;p3_1000G_AFR_AF=0.6505;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=18945;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.7555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246714728;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:66:133,0,66
chr1	246564256	rs3120713	G	T	746.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3120713;dbSNPBuildID=103;ANN=T|upstream_gene_variant|MODIFIER|CNST|CNST|transcript|NM_152609.2|protein_coding||c.-27307G>T|||||2081|,T|upstream_gene_variant|MODIFIER|CNST|CNST|transcript|NM_001139459.1|protein_coding||c.-27307G>T|||||2081|,T|intron_variant|MODIFIER|TFB2M|TFB2M|transcript|NM_022366.2|protein_coding|2/7|c.402+90C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4969;p3_1000G_AF=0.992212;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=21075;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246727558;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:775,72,0
chr1	246591476	rs35302997;rs397738983;rs534151181	G	GA	186.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.282;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0.325;SOR=1.445;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35302997;dbSNPBuildID=142,135,138;ANN=GA|intron_variant|MODIFIER|CNST|CNST|transcript|NM_152609.2|protein_coding|1/10|c.-51-32dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|CNST|CNST|transcript|NM_001139459.1|protein_coding|1/8|c.-51-32dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAAA|AAAA|AAAAA|insertion;p3_1000G_AC=2307;p3_1000G_AF=0.460663;p3_1000G_AFR_AF=0.4092;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=22342;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246754778;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,8:12:94:224,0,94
chr1	246591822	rs6702823	T	C	1624.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6702823;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|CNST|CNST|transcript|NM_152609.2|protein_coding|2/11|c.260T>C|p.Leu87Ser|638/5233|260/2178|87/725||,C|missense_variant|MODERATE|CNST|CNST|transcript|NM_001139459.1|protein_coding|2/9|c.260T>C|p.Leu87Ser|764/2545|260/1851|87/616||;p3_1000G_AA=C|||;p3_1000G_AC=4424;p3_1000G_AF=0.883387;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=18472;p3_1000G_EAS_AF=0.8919;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246755124;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9427;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3731,675;ESP6500_AA_AGE=286.3+/-278.7;ESP6500_AA_GTC=1586,559,58;ESP6500_CDS_SIZES=NM_152609.2:2178,NM_001139459.1:1851;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=7774,826;ESP6500_EA_AGE=190.0+/-236.6;ESP6500_EA_GTC=3525,724,51;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152609.2:missense,NM_001139459.1:missense;ESP6500_GL=CNST;ESP6500_GRCh38_POSITION=1:246591822;ESP6500_GS=145,145;ESP6500_GTC=5111,1283,109;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152609.2:c.260T>C,NM_001139459.1:c.260T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152609.2:p.(L87S),NM_001139459.1:p.(L87S);ESP6500_MAF=9.6047,15.32,11.5408;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11505,1501	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1653,159,0
chr1	246634408	rs35650980	G	T	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.699;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.05;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=2.14;SOR=1.483;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35650980;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|CNST|CNST|transcript|NM_152609.2|protein_coding|5/10|c.704-65G>T||||||,T|intron_variant|MODIFIER|CNST|CNST|transcript|NM_001139459.1|protein_coding|5/8|c.704-65G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2034;p3_1000G_AF=0.40615;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=17594;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246797710;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,8:25:99:0|1:246634408_G_T:285,0,1028
chr1	246634412	rs11396823	G	GT	244.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.262;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.88;SOR=1.73;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11396823;dbSNPBuildID=135;ANN=GT|intron_variant|MODIFIER|CNST|CNST|transcript|NM_152609.2|protein_coding|5/10|c.704-54dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|CNST|CNST|transcript|NM_001139459.1|protein_coding|5/8|c.704-54dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(STR4?);p3_1000G_AC=1988;p3_1000G_AF=0.396965;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=17333;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.2565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246797714;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,8:26:99:0|1:246634408_G_T:282,0,1055
chr1	246634672	rs6680646	T	A	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=-0.748;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6680646;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CNST|CNST|transcript|NM_152609.2|protein_coding|6/10|c.818+85T>A||||||,A|intron_variant|MODIFIER|CNST|CNST|transcript|NM_001139459.1|protein_coding|6/8|c.818+85T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2034;p3_1000G_AF=0.40615;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=18724;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246797974;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:124,0,164
chr1	246726856	rs34677128	T	C	390.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.911;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.55;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34677128;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|SCCPDH|SCCPDH|transcript|NM_016002.2|protein_coding|1/11|c.191-36T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1027;p3_1000G_AF=0.205072;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=19107;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246890158;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1430,2976;ESP6500_AA_AGE=678.3+/-403.5;ESP6500_AA_GTC=225,980,998;ESP6500_CDS_SIZES=NM_016002.2:1290;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=77;ESP6500_EA_AC=782,7818;ESP6500_EA_AGE=776.4+/-407.7;ESP6500_EA_GTC=32,718,3550;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016002.2:intron;ESP6500_GL=SCCPDH;ESP6500_GRCh38_POSITION=1:246726856;ESP6500_GTC=257,1698,4548;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016002.2:c.191-36T>C;ESP6500_MAF=9.093,32.4557,17.0075;ESP6500_TAC=2212,10794	GT:AD:DP:GQ:PL	0/1:17,16:33:99:419,0,426
chr1	246735821	rs61852479	T	C	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61852479;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|SCCPDH|SCCPDH|transcript|NM_016002.2|protein_coding|2/11|c.304-154T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1020;p3_1000G_AF=0.203674;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=18257;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246899123;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:67:69,0,67
chr1	246743904	rs7513496	G	T	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7513496;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SCCPDH|SCCPDH|transcript|NM_016002.2|protein_coding|4/11|c.515-172G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1023;p3_1000G_AF=0.204273;p3_1000G_AFR_AF=0.4251;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=17826;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.0716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246907206;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:61:68,0,61
chr1	246759088	rs1127098	A	G	806.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.719;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0.908;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.377;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1127098;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|SCCPDH|SCCPDH|transcript|NM_016002.2|protein_coding|7/12|c.750A>G|p.Gly250Gly|1097/2475|750/1290|250/429||;p3_1000G_AA=A|||;p3_1000G_AC=481;p3_1000G_AF=0.0960463;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=18402;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246922390;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=371,4035;ESP6500_AA_AGE=189.2+/-215.4;ESP6500_AA_GTC=15,341,1847;ESP6500_CDS_SIZES=NM_016002.2:1290;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=209;ESP6500_EA_AC=275,8325;ESP6500_EA_AGE=104.0+/-165.0;ESP6500_EA_GTC=2,271,4027;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016002.2:coding-synonymous;ESP6500_GL=SCCPDH;ESP6500_GRCh38_POSITION=1:246759088;ESP6500_GTC=17,612,5874;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016002.2:c.750A>G;ESP6500_HGVS_PROTEIN_VAR=NM_016002.2:p.(G250);ESP6500_MAF=3.1977,8.4203,4.9669;ESP6500_TAC=646,12360	GT:AD:DP:GQ:PL	0/1:36,33:69:99:835,0,931
chr1	246766181	rs12144408	A	G	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.55;ReadPosRankSum=1.16;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12144408;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SCCPDH|SCCPDH|transcript|NM_016002.2|protein_coding|11/11|c.1184+42A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1491;p3_1000G_AF=0.297724;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=18098;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=246929483;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=687,3719;ESP6500_AA_AGE=287.8+/-279.5;ESP6500_AA_GTC=49,589,1565;ESP6500_CDS_SIZES=NM_016002.2:1290;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=79;ESP6500_EA_AC=3718,4882;ESP6500_EA_AGE=529.8+/-381.7;ESP6500_EA_GTC=815,2088,1397;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016002.2:intron;ESP6500_GL=SCCPDH;ESP6500_GRCh38_POSITION=1:246766181;ESP6500_GTC=864,2677,2962;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016002.2:c.1184+42A>G;ESP6500_MAF=43.2326,15.5924,33.869;ESP6500_TAC=4405,8601	GT:AD:DP:GQ:PL	0/1:12,4:16:85:85,0,286
chr1	246842858	rs5021094	G	T	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.288;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-1.109;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5021094;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_015446.4|protein_coding|34/35|c.6553-82C>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323342.1|protein_coding|34/35|c.6526-82C>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323343.1|protein_coding|34/35|c.6526-82C>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NR_136586.1|pseudogene|35/36|n.7068-82C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3466;p3_1000G_AF=0.692093;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=17305;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.5447;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247006160;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,12:17:99:318,0,109
chr1	246849516	rs146002900	G	T	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=0.842;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146002900;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_015446.4|protein_coding|33/35|c.6418+99C>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323342.1|protein_coding|33/35|c.6391+99C>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323343.1|protein_coding|33/35|c.6391+99C>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NR_136586.1|pseudogene|34/36|n.6933+99C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16882;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247012818;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:55:55,0,152
chr1	246862229	rs55727006	C	T	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.602;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.91;ReadPosRankSum=-0.914;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55727006;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_015446.4|protein_coding|27/35|c.3568-76G>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323342.1|protein_coding|27/35|c.3541-76G>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323343.1|protein_coding|27/35|c.3541-76G>A||||||,T|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NR_136586.1|pseudogene|27/36|n.3949-76G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1134;p3_1000G_AF=0.226438;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=16152;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247025531;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,10:13:89:326,0,89
chr1	246885532	rs2642990	T	C	859.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.17;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.188;MLEAC=1;MLEAF=0.5;MQ=56.37;MQRankSum=-0.57;QD=14.57;ReadPosRankSum=2.54;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2642990;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|AHCTF1|AHCTF1|transcript|NM_015446.4|protein_coding|21/36|c.2648A>G|p.Asn883Ser|2745/8633|2648/6828|883/2275||,C|missense_variant|MODERATE|AHCTF1|AHCTF1|transcript|NM_001323342.1|protein_coding|21/36|c.2621A>G|p.Asn874Ser|3029/8917|2621/6801|874/2266||,C|missense_variant|MODERATE|AHCTF1|AHCTF1|transcript|NM_001323343.1|protein_coding|21/36|c.2621A>G|p.Asn874Ser|3029/8913|2621/6645|874/2214||,C|non_coding_transcript_exon_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NR_136586.1|pseudogene|21/37|n.3029A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3414;p3_1000G_AF=0.681709;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=18418;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247048834;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3934,472;ESP6500_AA_AGE=207.5+/-228.8;ESP6500_AA_GTC=1781,372,50;ESP6500_CDS_SIZES=NM_015446.4:6828;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=73;ESP6500_EA_AC=4262,4336;ESP6500_EA_AGE=573.5+/-389.9;ESP6500_EA_GTC=1080,2102,1117;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015446.4:missense;ESP6500_GL=AHCTF1;ESP6500_GRCh38_POSITION=1:246885532;ESP6500_GS=46;ESP6500_GTC=2861,2474,1167;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015446.4:c.2648A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015446.4:p.(N883S);ESP6500_MAF=49.5697,10.7127,36.9732;ESP6500_PH=benign:0.0;ESP6500_TAC=8196,4808	GT:AD:DP:GQ:PL	0/1:29,30:59:99:888,0,709
chr1	246894512	rs2800220	T	C	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.96;ReadPosRankSum=-0.842;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2800220;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_015446.4|protein_coding|14/35|c.1831+147A>G||||||,C|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323342.1|protein_coding|14/35|c.1804+147A>G||||||,C|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323343.1|protein_coding|14/35|c.1804+147A>G||||||,C|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NR_136586.1|pseudogene|14/36|n.2212+147A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3076;p3_1000G_AF=0.614217;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=13785;p3_1000G_EAS_AF=0.5437;p3_1000G_EUR_AF=0.497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247057814;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:57:148,0,57
chr1	246903837	rs774695420	CAA	C	77.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.718;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_015446.4|protein_coding|7/35|c.993+110_993+111delTT||||||,C|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323342.1|protein_coding|7/35|c.966+110_966+111delTT||||||,C|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NM_001323343.1|protein_coding|7/35|c.966+110_966+111delTT||||||,C|intron_variant|MODIFIER|AHCTF1|AHCTF1|transcript|NR_136586.1|pseudogene|7/36|n.1374+110_1374+111delTT||||||	GT:AD:DP:GQ:PL	0/1:3,4:7:67:115,0,67
chr1	246945712	rs2642982	G	C	209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.943;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-0.66;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2642982;dbSNPBuildID=100;ANN=C|3_prime_UTR_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|6/6|c.*85C>G|||||85|,C|non_coding_transcript_exon_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|7/7|n.954C>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|6/6|n.793C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2499;p3_1000G_AF=0.499002;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=14486;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.5249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247109014;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,9:11:41:238,0,41
chr1	246945965	rs2642983	A	C	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=1.94;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2642983;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|6/6|n.839-138T>G||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|5/5|c.489-138T>G||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|5/5|n.678-138T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2500;p3_1000G_AF=0.499201;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=19822;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.5249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247109267;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,6:12:99:0|1:246945965_A_C:234,0,471
chr1	246945989	rs111328919	CG	C	199.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.719;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=1.06;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs111328919;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|6/6|n.839-163delC||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|5/5|c.489-163delC||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|5/5|n.678-163delC||||||;p3_1000G_AA=G|G|-|deletion;p3_1000G_AC=1383;p3_1000G_AF=0.276158;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=20650;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247109291;p3_1000G_GRCH37_REF=CG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,6:11:99:0|1:246945965_A_C:237,0,436
chr1	246945994	rs41267541	A	G	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.255;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.405;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41267541;dbSNPBuildID=127;ANN=G|intron_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|6/6|n.839-167T>C||||||,G|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|5/5|c.489-167T>C||||||,G|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|5/5|n.678-167T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1382;p3_1000G_AF=0.275958;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=20553;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247109296;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,6:10:99:0|1:246945965_A_C:240,0,414
chr1	246979727	rs140208249;rs67574306	GTTAGT	G	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67574306,rs140208249;dbSNPBuildID=134,130;ANN=G|intron_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|5/6|n.740+108_740+112delACTAA||||||,G|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|4/5|c.390+8393_390+8397delACTAA||||||,G|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|4/5|n.579+8389_579+8393delACTAA||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr1	246979790	rs7516037	T	A	204.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.75;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7516037;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|5/6|n.740+50A>T||||||,A|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|4/5|c.390+8335A>T||||||,A|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|4/5|n.579+8331A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2841;p3_1000G_AF=0.567292;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=13943;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247143092;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:233,27,0
chr1	246979828	rs10802455	G	A	193.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.22;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10802455;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|5/6|n.740+12C>T||||||,A|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|4/5|c.390+8297C>T||||||,A|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|4/5|n.579+8293C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2841;p3_1000G_AF=0.567292;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=13893;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247143130;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:222,24,0
chr1	246979966	rs10924880	T	C	107.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.58;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10924880;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|4/5|c.390+8159A>G||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|4/5|n.579+8155A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|5/7|n.614A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2841;p3_1000G_AF=0.567292;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=10415;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247143268;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:136,15,0
chr1	246987438	rs3749427	T	C	814.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3749427;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|ZNF695|ZNF695|transcript|NM_020394.4|protein_coding|4/4|c.1077A>G|p.Lys359Lys|1262/3377|1077/1548|359/515||,C|intron_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|4/6|n.575+683A>G||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|4/5|c.390+687A>G||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|4/5|n.579+683A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2949;p3_1000G_AF=0.588858;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=21192;p3_1000G_EAS_AF=0.9722;p3_1000G_EUR_AF=0.6362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247150740;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1061,3229;ESP6500_AA_GTC=153,755,1237;ESP6500_CDS_SIZES=NM_020394.4:1548,NM_001204221.1:519;ESP6500_CG=-0.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=50;ESP6500_EA_AC=5503,3045;ESP6500_EA_GTC=1796,1911,567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020394.4:coding-synonymous,NM_001204221.1:intron;ESP6500_GL=ZNF695;ESP6500_GRCh38_POSITION=1:246987438;ESP6500_GTC=1949,2666,1804;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020394.4:c.1077A>G,NM_001204221.1:c.390+687A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020394.4:p.(K359),.;ESP6500_MAF=35.6224,24.7319,48.8705;ESP6500_TAC=6564,6274	GT:AD:DP:GQ:PL	1/1:0,22:22:66:843,66,0
chr1	246988255	rs2642992	A	G	1429.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=2.362;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2642992;dbSNPBuildID=100;ANN=G|missense_variant&splice_region_variant|MODERATE|ZNF695|ZNF695|transcript|NM_020394.4|protein_coding|4/4|c.260T>C|p.Val87Ala|445/3377|260/1548|87/515||,G|missense_variant&splice_region_variant|MODERATE|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|4/6|c.260T>C|p.Val87Ala|445/954|260/519|87/172||,G|splice_region_variant&non_coding_transcript_exon_variant|LOW|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|4/7|n.441T>C||||||,G|splice_region_variant&non_coding_transcript_exon_variant|LOW|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|4/6|n.445T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3133;p3_1000G_AF=0.625599;p3_1000G_AFR_AF=0.2882;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=19389;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.6412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247151557;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1212,2428;ESP6500_AA_GTC=209,794,817;ESP6500_CDS_SIZES=NM_020394.4:1548,NM_001204221.1:519;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=5264,2898;ESP6500_EA_GTC=1711,1842,528;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020394.4:missense-near-splice,NM_001204221.1:missense-near-splice;ESP6500_GL=ZNF695;ESP6500_GRCh38_POSITION=1:246988255;ESP6500_GS=64,64;ESP6500_GTC=1920,2636,1345;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020394.4:c.260T>C,NM_001204221.1:c.260T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020394.4:p.(V87A),NM_001204221.1:p.(V87A);ESP6500_MAF=35.506,33.2967,45.1279;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=6476,5326	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1458,117,0
chr1	246999356	rs2642973	C	T	1901.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=0.724;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2642973;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|ZNF695|ZNF695|transcript|NM_020394.4|protein_coding|3/4|c.251G>A|p.Arg84Lys|436/3377|251/1548|84/515||,T|missense_variant|MODERATE|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|3/6|c.251G>A|p.Arg84Lys|436/954|251/519|84/172||,T|non_coding_transcript_exon_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|3/7|n.432G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|3/6|n.436G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4162;p3_1000G_AF=0.83107;p3_1000G_AFR_AF=0.8268;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=16357;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247162658;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3377,713;ESP6500_AA_GTC=1397,583,65;ESP6500_CDS_SIZES=NM_020394.4:1548,NM_001204221.1:519;ESP6500_CG=0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=115;ESP6500_EA_AC=7048,1426;ESP6500_EA_GTC=2939,1170,128;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020394.4:missense,NM_001204221.1:missense;ESP6500_GL=ZNF695;ESP6500_GRCh38_POSITION=1:246999356;ESP6500_GS=26,26;ESP6500_GTC=4336,1753,193;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020394.4:c.251G>A,NM_001204221.1:c.251G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020394.4:p.(R84K),NM_001204221.1:p.(R84K);ESP6500_MAF=16.8279,17.4328,17.0248;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10425,2139	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1930,189,0
chr1	246999885	rs2818870	T	C	1416.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2818870;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ZNF670-ZNF695|ZNF670-ZNF695|transcript|NR_037894.1|pseudogene|2/6|n.347+63A>G||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_020394.4|protein_coding|2/3|c.166+27A>G||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NM_001204221.1|protein_coding|2/5|c.166+27A>G||||||,C|intron_variant|MODIFIER|ZNF695|ZNF695|transcript|NR_037892.1|pseudogene|2/5|n.351+27A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4106;p3_1000G_AF=0.819888;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=19693;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.834;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247163187;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3246,860;ESP6500_AA_GTC=1291,664,98;ESP6500_CDS_SIZES=NM_020394.4:1548,NM_001204221.1:519;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=7034,1430;ESP6500_EA_GTC=2929,1176,127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020394.4:intron,NM_001204221.1:intron;ESP6500_GL=ZNF695;ESP6500_GRCh38_POSITION=1:246999885;ESP6500_GTC=4220,1840,225;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020394.4:c.166+27A>G,NM_001204221.1:c.166+27A>G;ESP6500_MAF=16.8951,20.945,18.218;ESP6500_TAC=10280,2290	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1445,129,0
chr1	247220847	rs4262581	C	T	241.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.26;QD=24.97;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4262581;dbSNPBuildID=111;ANN=T|intergenic_region|MODIFIER|MIR3916-VN1R5|MIR3916-VN1R5|intergenic_region|MIR3916-VN1R5|||n.247220847C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=4501;p3_1000G_AF=0.898762;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=14503;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247384149;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:247220847_C_T:270,18,0
chr1	247220854	rs4551630	G	A	241.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.26;QD=27.05;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4551630;dbSNPBuildID=129;ANN=A|intergenic_region|MODIFIER|MIR3916-VN1R5|MIR3916-VN1R5|intergenic_region|MIR3916-VN1R5|||n.247220854G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:247220847_C_T:270,18,0
chr1	247256207	rs1778540	T	C	836.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=-1.913;SOR=0.714;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1778540;dbSNPBuildID=89;ANN=C|stop_lost|HIGH|VN1R5|VN1R5|transcript|NM_173858.1|protein_coding|1/1|c.136T>C|p.Ter46Glnext*?|136/1074|136/1074|46/357||;p3_1000G_AA=C|||;p3_1000G_AC=3916;p3_1000G_AF=0.781949;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=18065;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.8877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247419509;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2249,1427;ESP6500_AA_GTC=698,853,287;ESP6500_CDS_SIZES=NM_173858.1:1074;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=143;ESP6500_EA_AC=7368,788;ESP6500_EA_GTC=3323,722,33;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173858.1:stop-lost;ESP6500_GL=VN1R5;ESP6500_GRCh38_POSITION=1:247256207;ESP6500_GTC=4021,1575,320;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173858.1:c.136T>C;ESP6500_HGVS_PROTEIN_VAR=NM_173858.1:p.(*46Qext?);ESP6500_MAF=9.6616,38.8194,18.7204;ESP6500_TAC=9617,2215	GT:AD:DP:GQ:PL	0/1:17,31:48:99:865,0,367
chr1	247256362	rs1778541	C	T	1041.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.586;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=8.996;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.97;SOR=0.31;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1778541;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|VN1R5|VN1R5|transcript|NM_173858.1|protein_coding|1/1|c.291C>T|p.Thr97Thr|291/1074|291/1074|97/357||;p3_1000G_AA=C|||;p3_1000G_AC=3866;p3_1000G_AF=0.771965;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=21078;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.8887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247419664;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2360,1632;ESP6500_AA_GTC=708,944,344;ESP6500_CDS_SIZES=NM_173858.1:1074;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=123;ESP6500_EA_AC=7559,801;ESP6500_EA_GTC=3412,735,33;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173858.1:coding-synonymous;ESP6500_GL=VN1R5;ESP6500_GRCh38_POSITION=1:247256362;ESP6500_GTC=4120,1679,377;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173858.1:c.291C>T;ESP6500_HGVS_PROTEIN_VAR=NM_173858.1:p.(T97);ESP6500_MAF=9.5813,40.8818,19.6972;ESP6500_TAC=9919,2433	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1070,0,1264
chr1	247257119	rs41308154	C	T	962.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.193;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.478;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=1.48;SOR=0.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41308154;dbSNPBuildID=127;ANN=T|missense_variant|MODERATE|VN1R5|VN1R5|transcript|NM_173858.1|protein_coding|1/1|c.1048C>T|p.Arg350Cys|1048/1074|1048/1074|350/357||;p3_1000G_AA=C|||;p3_1000G_AC=1126;p3_1000G_AF=0.22484;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=20228;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247420421;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=360,3372;ESP6500_AA_GTC=13,334,1519;ESP6500_CDS_SIZES=NM_173858.1:1074;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=13;ESP6500_EA_AC=1693,6511;ESP6500_EA_GTC=172,1349,2581;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173858.1:missense;ESP6500_GL=VN1R5;ESP6500_GRCh38_POSITION=1:247257119;ESP6500_GS=180;ESP6500_GTC=185,1683,4100;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173858.1:c.1048C>T;ESP6500_HGVS_PROTEIN_VAR=NM_173858.1:p.(R350C);ESP6500_MAF=20.6363,9.6463,17.2001;ESP6500_PH=probably-damaging:0.987;ESP6500_TAC=2053,9883	GT:AD:DP:GQ:PL	0/1:17,37:54:99:991,0,407
chr1	247307819	rs12023326	T	C	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=0.812;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12023326;dbSNPBuildID=120;ANN=C|3_prime_UTR_variant|MODIFIER|ZNF496|ZNF496|transcript|NM_001329733.1|protein_coding|10/10|c.*54A>G|||||54|,C|intron_variant|MODIFIER|ZNF496|ZNF496|transcript|NM_032752.2|protein_coding|9/9|c.1006+656A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1170;p3_1000G_AF=0.233626;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=17651;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247471121;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:97:97,0,208
chr1	247322630	rs10924984	A	G	298.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.16;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10924984;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|ZNF496|ZNF496|transcript|NM_032752.2|protein_coding|6/9|c.651+524T>C||||||,G|intron_variant|MODIFIER|ZNF496|ZNF496|transcript|NM_001329733.1|protein_coding|6/9|c.651+524T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4513;p3_1000G_AF=0.901158;p3_1000G_AFR_AF=0.7126;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=17384;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247485932;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:327,33,0
chr1	247323119	rs6692645	G	C	378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.453;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.22;ReadPosRankSum=-0.406;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6692645;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ZNF496|ZNF496|transcript|NM_032752.2|protein_coding|6/9|c.651+35C>G||||||,C|intron_variant|MODIFIER|ZNF496|ZNF496|transcript|NM_001329733.1|protein_coding|6/9|c.651+35C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=2519;p3_1000G_AF=0.502995;p3_1000G_AFR_AF=0.388;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=16963;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.663;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247486421;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1868,2538;ESP6500_AA_AGE=628.6+/-395.1;ESP6500_AA_GTC=392,1084,727;ESP6500_CDS_SIZES=NM_032752.1:1764;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=36;ESP6500_EA_AC=5371,3229;ESP6500_EA_AGE=482.9+/-371.0;ESP6500_EA_GTC=1700,1971,629;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032752.1:intron;ESP6500_GL=ZNF496;ESP6500_GRCh38_POSITION=1:247323119;ESP6500_GTC=2092,3055,1356;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_032752.1:c.651+35C>G;ESP6500_MAF=37.5465,42.3967,44.3411;ESP6500_TAC=7239,5767	GT:AD:DP:GQ:PL	0/1:8,14:22:99:407,0,235
chr1	247329729	rs6674425	C	G	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.18;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6674425;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ZNF496|ZNF496|transcript|NM_032752.2|protein_coding|3/9|c.-37-114G>C||||||,G|intron_variant|MODIFIER|ZNF496|ZNF496|transcript|NM_001329733.1|protein_coding|3/9|c.-37-114G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2032;p3_1000G_AF=0.405751;p3_1000G_AFR_AF=0.3222;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=18430;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247493031;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:106,0,138
chr1	247424229	rs4925543;403243	A	G	8588.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.064;ClippingRankSum=0;DP=256;ExcessHet=3.0103;FS=3.291;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=33.55;ReadPosRankSum=-1.04;SOR=0.44;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925543;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding|5/11|c.786A>G|p.Arg262Arg|924/3849|786/3111|262/1036||,G|synonymous_variant|LOW|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding|4/9|c.786A>G|p.Arg262Arg|1566/4320|786/2940|262/979||,G|synonymous_variant|LOW|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding|3/8|c.786A>G|p.Arg262Arg|1532/4286|786/2940|262/979||,G|synonymous_variant|LOW|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding|3/9|c.780A>G|p.Arg260Arg|1532/4457|780/3105|260/1034||,G|synonymous_variant|LOW|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding|3/9|c.786A>G|p.Arg262Arg|1532/4457|786/3111|262/1036||,G|synonymous_variant|LOW|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding|3/7|c.786A>G|p.Arg262Arg|1532/4115|786/2769|262/922||;p3_1000G_AA=G|||;p3_1000G_AC=4607;p3_1000G_AF=0.919928;p3_1000G_AFR_AF=0.8434;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=17145;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247587531;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8804;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3749,657;ESP6500_AA_AGE=281.9+/-276.2;ESP6500_AA_GTC=1600,549,54;ESP6500_CDS_SIZES=NM_183395.2:2769,NM_004895.4:3111,NM_001243133.1:3105,NM_001127462.2:2940,NM_001127461.2:2940,NM_001079821.2:3111;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=67;ESP6500_EA_AC=8201,399;ESP6500_EA_AGE=127.2+/-185.5;ESP6500_EA_GTC=3908,385,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183395.2:coding-synonymous,NM_004895.4:coding-synonymous,NM_001243133.1:coding-synonymous,NM_001127462.2:coding-synonymous,NM_001127461.2:coding-synonymous,NM_001079821.2:coding-synonymous;ESP6500_GL=NLRP3;ESP6500_GRCh38_POSITION=1:247424229;ESP6500_GTC=5508,934,61;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_183395.2:c.786A>G,NM_004895.4:c.786A>G,NM_001243133.1:c.780A>G,NM_001127462.2:c.786A>G,NM_001127461.2:c.786A>G,NM_001079821.2:c.786A>G;ESP6500_HGVS_PROTEIN_VAR=NM_183395.2:p.(R262),NM_004895.4:p.(R262),NM_001243133.1:p.(R260),NM_001127462.2:p.(R262),NM_001127461.2:p.(R262),NM_001079821.2:p.(R262);ESP6500_MAF=4.6395,14.9115,8.1193;ESP6500_TAC=11950,1056;CLINVAR_ALLELEID=389399;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.247424229A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:45494;CLINVAR_GENEINFO=NLRP3:114548;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4925543	GT:AD:DP:GQ:PL	1/1:1,255:256:99:8617,728,0
chr1	247434027	rs12124866	C	T	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.5;QD=28.19;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12124866;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding|6/10|c.2328-76C>T||||||,T|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding|5/8|c.2328-76C>T||||||,T|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding|3/7|c.2157-76C>T||||||,T|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding|4/8|c.2322-76C>T||||||,T|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding|4/8|c.2328-76C>T||||||,T|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding|3/6|c.2157-76C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=4596;p3_1000G_AF=0.917732;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=16429;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247597329;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:12:1|1:247434027_C_T:180,12,0
chr1	247434062	rs772851137	G	GAT	506.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.99;QD=29.78;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNPBuildID=144;ANN=GAT|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding|6/10|c.2328-41_2328-40insAT||||||,GAT|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding|5/8|c.2328-41_2328-40insAT||||||,GAT|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding|3/7|c.2157-41_2157-40insAT||||||,GAT|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding|4/8|c.2322-41_2322-40insAT||||||,GAT|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding|4/8|c.2328-41_2328-40insAT||||||,GAT|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding|3/6|c.2157-41_2157-40insAT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:39:1|1:247434027_C_T:544,39,0
chr1	247434063	rs539490854	G	GTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA	506.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.99;QD=33.44;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNPBuildID=142;ANN=GTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding|6/10|c.2328-37_2328-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT||||||INFO_REALIGN_3_PRIME,GTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding|5/8|c.2328-37_2328-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT||||||INFO_REALIGN_3_PRIME,GTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding|3/7|c.2157-37_2157-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT||||||INFO_REALIGN_3_PRIME,GTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding|4/8|c.2322-37_2322-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT||||||INFO_REALIGN_3_PRIME,GTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding|4/8|c.2328-37_2328-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT||||||INFO_REALIGN_3_PRIME,GTGTTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGA|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding|3/6|c.2157-37_2157-36insTCTGAGGCCTTCTCTATTCCAGAGCTCTCTGGTCAGATGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:39:1|1:247434027_C_T:544,39,0
chr1	247435930	rs10754557	G	A	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.094;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.298;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10754557;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding|7/10|c.2499-40G>A||||||,A|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding|6/8|c.2498+1657G>A||||||,A|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding|4/7|c.2328-40G>A||||||,A|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding|5/8|c.2493-40G>A||||||,A|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding|5/8|c.2499-40G>A||||||,A|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding|4/6|c.2327+1657G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2424;p3_1000G_AF=0.484026;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=17318;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247599232;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1084,3322;ESP6500_AA_AGE=392.4+/-328.5;ESP6500_AA_GTC=143,798,1262;ESP6500_CDS_SIZES=NM_183395.2:2769,NM_004895.4:3111,NM_001243133.1:3105,NM_001127462.2:2940,NM_001127461.2:2940,NM_001079821.2:3111;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=62;ESP6500_EA_AC=5378,3222;ESP6500_EA_AGE=648.6+/-400.5;ESP6500_EA_GTC=1699,1980,621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183395.2:intron,NM_004895.4:intron,NM_001243133.1:intron,NM_001127462.2:intron,NM_001127461.2:intron,NM_001079821.2:intron;ESP6500_GL=NLRP3;ESP6500_GRCh38_POSITION=1:247435930;ESP6500_GTC=1842,2778,1883;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_183395.2:c.2327+1657G>A,NM_004895.4:c.2499-40G>A,NM_001243133.1:c.2493-40G>A,NM_001127462.2:c.2328-40G>A,NM_001127461.2:c.2498+1657G>A,NM_001079821.2:c.2499-40G>A;ESP6500_MAF=37.4651,24.6028,49.6848;ESP6500_TAC=6462,6544	GT:AD:DP:GQ:PL	0/1:11,5:16:99:151,0,385
chr1	247448268	rs1435973276;rs534306154;rs776580370	CTT	C	31.37	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=1.15;SOR=1.609;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151,144,142;ANN=C|downstream_gene_variant|MODIFIER|OR2B11|OR2B11|transcript|NM_001004492.1|protein_coding||c.*2759_*2760delAA|||||2760|,C|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding|10/10|c.3012-116_3012-115delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding|8/8|c.2841-116_2841-115delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding|7/7|c.2841-116_2841-115delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding|8/8|c.3006-116_3006-115delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding|8/8|c.3012-116_3012-115delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding|6/6|c.2670-116_2670-115delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,3:4:8:68,0,8
chr1	247451315	rs4925663	C	T	662.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.464;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=2.069;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.166;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4925663;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|OR2B11|OR2B11|transcript|NM_001004492.1|protein_coding|1/1|c.668G>A|p.Gly223Asp|668/954|668/954|223/317||,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding||c.*2811C>T|||||2211|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding||c.*2811C>T|||||2211|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding||c.*2811C>T|||||2211|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding||c.*2811C>T|||||2211|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding||c.*2811C>T|||||2211|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding||c.*2811C>T|||||2211|;p3_1000G_AA=C|||;p3_1000G_AC=1999;p3_1000G_AF=0.399161;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=18472;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.4105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247614617;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1040,3366;ESP6500_AA_AGE=381.4+/-324.0;ESP6500_AA_GTC=127,786,1290;ESP6500_CDS_SIZES=NM_001004492.1:954;ESP6500_CG=4.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=83;ESP6500_EA_AC=3350,5250;ESP6500_EA_AGE=498.8+/-374.8;ESP6500_EA_GTC=666,2018,1616;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004492.1:missense;ESP6500_GL=OR2B11;ESP6500_GRCh38_POSITION=1:247451315;ESP6500_GS=94;ESP6500_GTC=793,2804,2906;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004492.1:c.668G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004492.1:p.(G223D);ESP6500_MAF=38.9535,23.6042,33.7537;ESP6500_PH=benign:0.351;ESP6500_TAC=4390,8616	GT:AD:DP:GQ:PL	0/1:37,27:64:99:691,0,1067
chr1	247451391	rs6695302	C	T	2749.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=0.928;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6695302;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|OR2B11|OR2B11|transcript|NM_001004492.1|protein_coding|1/1|c.592G>A|p.Val198Met|592/954|592/954|198/317||,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding||c.*2887C>T|||||2287|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding||c.*2887C>T|||||2287|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding||c.*2887C>T|||||2287|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding||c.*2887C>T|||||2287|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding||c.*2887C>T|||||2287|,T|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding||c.*2887C>T|||||2287|;p3_1000G_AA=C|||;p3_1000G_AC=4485;p3_1000G_AF=0.895567;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=20624;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247614693;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3086,1320;ESP6500_AA_AGE=695.1+/-405.9;ESP6500_AA_GTC=1091,904,208;ESP6500_CDS_SIZES=NM_001004492.1:954;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=62;ESP6500_EA_AC=8578,22;ESP6500_EA_AGE=817.6+/-406.9;ESP6500_EA_GTC=4278,22,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004492.1:missense;ESP6500_GL=OR2B11;ESP6500_GRCh38_POSITION=1:247451391;ESP6500_GS=21;ESP6500_GTC=5369,926,208;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004492.1:c.592G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004492.1:p.(V198M);ESP6500_MAF=0.2558,29.9591,10.3183;ESP6500_PH=benign:0.007;ESP6500_TAC=11664,1342	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2778,249,0
chr1	247451594	rs11583410	A	C	1735.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.14;ClippingRankSum=0;DP=135;ExcessHet=3.0103;FS=4.063;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=1.03;SOR=0.504;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11583410;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|OR2B11|OR2B11|transcript|NM_001004492.1|protein_coding|1/1|c.389T>G|p.Ile130Ser|389/954|389/954|130/317||,C|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding||c.*3090A>C|||||2490|,C|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding||c.*3090A>C|||||2490|,C|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding||c.*3090A>C|||||2490|,C|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding||c.*3090A>C|||||2490|,C|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding||c.*3090A>C|||||2490|,C|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding||c.*3090A>C|||||2490|;p3_1000G_AA=A|||;p3_1000G_AC=1851;p3_1000G_AF=0.369609;p3_1000G_AFR_AF=0.1165;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=20141;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.4742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247614896;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=729,3677;ESP6500_AA_AGE=302.1+/-287.2;ESP6500_AA_GTC=70,589,1544;ESP6500_CDS_SIZES=NM_001004492.1:954;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=74;ESP6500_EA_AC=3974,4626;ESP6500_EA_AGE=551.3+/-385.9;ESP6500_EA_GTC=928,2118,1254;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004492.1:missense;ESP6500_GL=OR2B11;ESP6500_GRCh38_POSITION=1:247451594;ESP6500_GS=142;ESP6500_GTC=998,2707,2798;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004492.1:c.389T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001004492.1:p.(I130S);ESP6500_MAF=46.2093,16.5456,36.1602;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=4703,8303	GT:AD:DP:GQ:PL	0/1:74,61:135:99:1764,0,1984
chr1	247451959	rs35305980;rs397733455	GA	G	483.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.234;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.128;SOR=1.065;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35305980;dbSNPBuildID=126,138;ANN=G|frameshift_variant|HIGH|OR2B11|OR2B11|transcript|NM_001004492.1|protein_coding|1/1|c.23delT|p.Phe8fs|23/954|23/954|8/317||,G|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001079821.2|protein_coding||c.*3456delA|||||2856|,G|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127461.2|protein_coding||c.*3456delA|||||2856|,G|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001127462.2|protein_coding||c.*3456delA|||||2856|,G|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_001243133.1|protein_coding||c.*3456delA|||||2856|,G|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_004895.4|protein_coding||c.*3456delA|||||2856|,G|downstream_gene_variant|MODIFIER|NLRP3|NLRP3|transcript|NM_183395.2|protein_coding||c.*3456delA|||||2856|;p3_1000G_AA=AA|AA|A|deletion;p3_1000G_AC=2249;p3_1000G_AF=0.449081;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=21865;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.4563;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247615261;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=INDEL;ESP6500_AA_AC=1318,2948;ESP6500_AA_GTC=196,926,1011;ESP6500_CDS_SIZES=NM_001004492.1:954;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=112;ESP6500_EA_AC=3624,4628;ESP6500_EA_GTC=809,2006,1311;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004492.1:frameshift;ESP6500_GL=OR2B11;ESP6500_GRCh38_POSITION=1:247451959;ESP6500_GTC=1005,2932,2322;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001004492.1:c.23del1;ESP6500_HGVS_PROTEIN_VAR=NM_001004492.1:p.(F8Sfs*2);ESP6500_MAF=43.9166,30.8955,39.4792;ESP6500_TAC=4942,7576	GT:AD:DP:GQ:PL	0/1:33,18:51:99:521,0,1080
chr1	247532310	rs6657127	G	A	2549.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6657127;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|OR2C3|OR2C3|transcript|NM_198074.4|protein_coding|2/2|c.202C>T|p.Pro68Ser|564/2742|202/963|68/320||,A|upstream_gene_variant|MODIFIER|GCSAML-AS1|GCSAML-AS1|transcript|NR_027309.2|pseudogene||n.-1506C>T|||||1506|,A|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281853.1|protein_coding|2/6|c.-57+5256G>A||||||,A|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281834.1|protein_coding|2/6|c.-264+5256G>A||||||,A|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281835.1|protein_coding|2/5|c.-148+5256G>A||||||,A|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281836.1|protein_coding|2/5|c.-68+5256G>A||||||,A|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281838.1|protein_coding|2/4|c.-8+5256G>A||||||,A|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281837.1|protein_coding|2/5|c.-68+5256G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=21839;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247695612;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4382,24;ESP6500_AA_AGE=29.9+/-59.1;ESP6500_AA_GTC=2179,24,0;ESP6500_CDS_SIZES=NM_198074.4:963;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=131;ESP6500_EA_AC=8599,1;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198074.4:missense;ESP6500_GL=OR2C3;ESP6500_GRCh38_POSITION=1:247532310;ESP6500_GS=74;ESP6500_GTC=6478,25,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198074.4:c.202C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198074.4:p.(P68S);ESP6500_MAF=0.0116,0.5447,0.1922;ESP6500_PH=benign:0.0;ESP6500_TAC=12981,25	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2578,237,0
chr1	247532454	rs6697472	T	C	1530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6697472;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|OR2C3|OR2C3|transcript|NM_198074.4|protein_coding|2/2|c.58A>G|p.Thr20Ala|420/2742|58/963|20/320||,C|upstream_gene_variant|MODIFIER|GCSAML-AS1|GCSAML-AS1|transcript|NR_027309.2|pseudogene||n.-1650A>G|||||1650|,C|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281853.1|protein_coding|2/6|c.-57+5400T>C||||||,C|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281834.1|protein_coding|2/6|c.-264+5400T>C||||||,C|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281835.1|protein_coding|2/5|c.-148+5400T>C||||||,C|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281836.1|protein_coding|2/5|c.-68+5400T>C||||||,C|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281838.1|protein_coding|2/4|c.-8+5400T>C||||||,C|intron_variant|MODIFIER|GCSAML|GCSAML|transcript|NM_001281837.1|protein_coding|2/5|c.-68+5400T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4893;p3_1000G_AF=0.977037;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=19961;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247695756;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4081,325;ESP6500_AA_AGE=170.5+/-200.9;ESP6500_AA_GTC=1890,301,12;ESP6500_CDS_SIZES=NM_198074.4:963;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=77;ESP6500_EA_AC=8585,15;ESP6500_EA_AGE=9.8+/-36.6;ESP6500_EA_GTC=4285,15,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198074.4:missense;ESP6500_GL=OR2C3;ESP6500_GRCh38_POSITION=1:247532454;ESP6500_GS=58;ESP6500_GTC=6175,316,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198074.4:c.58A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198074.4:p.(T20A);ESP6500_MAF=0.1744,7.3763,2.6142;ESP6500_PH=benign:0.0;ESP6500_TAC=12666,340	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1559,147,0
chr1	247588717	rs1151687	G	C	1243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.776;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=8.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-1.616;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1151687;dbSNPBuildID=87;ANN=C|missense_variant|MODERATE|OR2G2|OR2G2|transcript|NM_001001915.1|protein_coding|1/1|c.358G>C|p.Val120Leu|358/954|358/954|120/317||;p3_1000G_AA=G|||;p3_1000G_AC=2902;p3_1000G_AF=0.579473;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=21117;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.7147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247752019;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1107,3299;ESP6500_AA_AGE=396.7+/-330.2;ESP6500_AA_GTC=141,825,1237;ESP6500_CDS_SIZES=NM_001001915.1:954;ESP6500_CG=3.4;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=235;ESP6500_EA_AC=6090,2510;ESP6500_EA_AGE=694.3+/-404.7;ESP6500_EA_GTC=2149,1792,359;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001915.1:missense;ESP6500_GL=OR2G2;ESP6500_GRCh38_POSITION=1:247588717;ESP6500_GS=32;ESP6500_GTC=2290,2617,1596;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001915.1:c.358G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001915.1:p.(V120L);ESP6500_MAF=29.186,25.1248,44.664;ESP6500_PH=benign:0.112;ESP6500_TAC=7197,5809	GT:AD:DP:GQ:PL	0/1:70,47:117:99:1272,0,2202
chr1	247588859	rs10925085	T	C	1153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.976;ClippingRankSum=0;DP=138;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=0.572;SOR=0.694;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10925085;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|OR2G2|OR2G2|transcript|NM_001001915.1|protein_coding|1/1|c.500T>C|p.Leu167Pro|500/954|500/954|167/317||;p3_1000G_AA=T|||;p3_1000G_AC=1540;p3_1000G_AF=0.307508;p3_1000G_AFR_AF=0.0582;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=21547;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.4125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247752161;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=465,3941;ESP6500_AA_AGE=220.4+/-237.8;ESP6500_AA_GTC=28,409,1766;ESP6500_CDS_SIZES=NM_001001915.1:954;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=176;ESP6500_EA_AC=3464,5136;ESP6500_EA_AGE=508.7+/-377.1;ESP6500_EA_GTC=676,2112,1512;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001915.1:missense;ESP6500_GL=OR2G2;ESP6500_GRCh38_POSITION=1:247588859;ESP6500_GS=98;ESP6500_GTC=704,2521,3278;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001915.1:c.500T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001915.1:p.(L167P);ESP6500_MAF=40.2791,10.5538,30.2091;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=3929,9077	GT:AD:DP:GQ:PL	0/1:87,51:138:99:1182,0,2273
chr1	247589065	rs869111	A	G	1072.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.382;SOR=0.647;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs869111;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|OR2G2|OR2G2|transcript|NM_001001915.1|protein_coding|1/1|c.706A>G|p.Arg236Gly|706/954|706/954|236/317||;p3_1000G_AA=G|||;p3_1000G_AC=1947;p3_1000G_AF=0.388778;p3_1000G_AFR_AF=0.3116;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=19344;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247752367;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3364;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1377,3029;ESP6500_AA_AGE=690.5+/-405.3;ESP6500_AA_GTC=220,937,1046;ESP6500_CDS_SIZES=NM_001001915.1:954;ESP6500_CG=4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=138;ESP6500_EA_AC=4290,4310;ESP6500_EA_AGE=577.6+/-390.6;ESP6500_EA_GTC=1074,2142,1084;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001915.1:missense;ESP6500_GL=OR2G2;ESP6500_GRCh38_POSITION=1:247589065;ESP6500_GS=125;ESP6500_GTC=1294,3079,2130;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001915.1:c.706A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001001915.1:p.(R236G);ESP6500_MAF=49.8837,31.2528,43.5722;ESP6500_PH=benign:0.0;ESP6500_TAC=5667,7339	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1101,0,1589
chr1	247589348	rs35280339	AT	A	33.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=0;SOR=2.833;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35280339;dbSNPBuildID=126;ANN=A|downstream_gene_variant|MODIFIER|OR2G2|OR2G2|transcript|NM_001001915.1|protein_coding||c.*36delT|||||36|,A|intergenic_region|MODIFIER|OR2G2-OR2G3|OR2G2-OR2G3|intergenic_region|OR2G2-OR2G3|||n.247589349delT||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:37:71,0,37
chr1	247606450	rs61730407	A	G	797.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61730407;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|OR2G3|OR2G3|transcript|NM_001001914.1|protein_coding|1/1|c.865A>G|p.Ile289Val|865/930|865/930|289/309||;p3_1000G_AA=A|||;p3_1000G_AC=1693;p3_1000G_AF=0.338059;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=19391;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.4394;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247769752;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1057,3349;ESP6500_AA_AGE=385.1+/-325.6;ESP6500_AA_GTC=140,777,1286;ESP6500_CDS_SIZES=NM_001001914.1:930;ESP6500_CG=3.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=83;ESP6500_EA_AC=3646,4954;ESP6500_EA_AGE=524.7+/-380.6;ESP6500_EA_GTC=790,2066,1444;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001914.1:missense;ESP6500_GL=OR2G3;ESP6500_GRCh38_POSITION=1:247606450;ESP6500_GS=29;ESP6500_GTC=930,2843,2730;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001914.1:c.865A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001001914.1:p.(I289V);ESP6500_MAF=42.3953,23.99,36.1602;ESP6500_PH=probably-damaging:0.992;ESP6500_TAC=4703,8303	GT:AD:DP:GQ:PL	0/1:24,30:54:99:826,0,600
chr1	247672050	rs1151641	C	T	521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1151641;dbSNPBuildID=87;ANN=T|downstream_gene_variant|MODIFIER|OR13G1|OR13G1|transcript|NM_001005487.1|protein_coding||c.*68G>A|||||68|,T|intergenic_region|MODIFIER|OR2G3-OR13G1|OR2G3-OR13G1|intergenic_region|OR2G3-OR13G1|||n.247672050C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4048;p3_1000G_AF=0.808307;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=20634;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.8231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247835352;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:550,48,0
chr1	247672372	rs28446289	G	A	1230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.934;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=2.526;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.94;SOR=0.98;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28446289;dbSNPBuildID=125;ANN=A|missense_variant|MODERATE|OR13G1|OR13G1|transcript|NM_001005487.1|protein_coding|1/1|c.670C>T|p.Arg224Cys|670/924|670/924|224/307||;p3_1000G_AA=G|||;p3_1000G_AC=1657;p3_1000G_AF=0.330871;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=24096;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.3519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247835674;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1312,3094;ESP6500_AA_AGE=441.4+/-346.4;ESP6500_AA_GTC=188,936,1079;ESP6500_CDS_SIZES=NM_001005487.1:924;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=111;ESP6500_EA_AC=3098,5502;ESP6500_EA_AGE=474.1+/-368.8;ESP6500_EA_GTC=562,1974,1764;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005487.1:missense;ESP6500_GL=OR13G1;ESP6500_GRCh38_POSITION=1:247672372;ESP6500_GS=180;ESP6500_GTC=750,2910,2843;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001005487.1:c.670C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005487.1:p.(R224C);ESP6500_MAF=36.0233,29.7776,33.9074;ESP6500_PH=benign:0.112;ESP6500_TAC=4410,8596	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1259,0,1623
chr1	247672606	rs28556931	T	A	1307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.75;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=4.031;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-2.078;SOR=0.364;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28556931;dbSNPBuildID=125;ANN=A|missense_variant|MODERATE|OR13G1|OR13G1|transcript|NM_001005487.1|protein_coding|1/1|c.436A>T|p.Met146Leu|436/924|436/924|146/307||;p3_1000G_AA=T|||;p3_1000G_AC=1654;p3_1000G_AF=0.330272;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=23615;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.3519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247835908;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1324,3082;ESP6500_AA_AGE=443.9+/-347.2;ESP6500_AA_GTC=192,940,1071;ESP6500_CDS_SIZES=NM_001005487.1:924;ESP6500_CG=-1.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=90;ESP6500_EA_AC=3098,5502;ESP6500_EA_AGE=474.3+/-368.8;ESP6500_EA_GTC=562,1974,1764;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005487.1:missense;ESP6500_GL=OR13G1;ESP6500_GRCh38_POSITION=1:247672606;ESP6500_GS=15;ESP6500_GTC=754,2914,2835;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005487.1:c.436A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005487.1:p.(M146L);ESP6500_MAF=36.0233,30.0499,33.9997;ESP6500_PH=benign:0.03;ESP6500_TAC=4422,8584	GT:AD:DP:GQ:PL	0/1:47,43:90:99:1336,0,1241
chr1	247672648	rs1151640	T	C	1265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.05;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=2.955;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.546;SOR=0.92;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1151640;dbSNPBuildID=87;ANN=C|missense_variant|MODERATE|OR13G1|OR13G1|transcript|NM_001005487.1|protein_coding|1/1|c.394A>G|p.Ile132Val|394/924|394/924|132/307||;p3_1000G_AA=T|||;p3_1000G_AC=2033;p3_1000G_AF=0.40595;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=22510;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.4195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247835950;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=739,3667;ESP6500_AA_AGE=305.5+/-289.0;ESP6500_AA_GTC=58,623,1522;ESP6500_CDS_SIZES=NM_001005487.1:924;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=90;ESP6500_EA_AC=3654,4946;ESP6500_EA_AGE=525.3+/-380.7;ESP6500_EA_GTC=772,2110,1418;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005487.1:missense;ESP6500_GL=OR13G1;ESP6500_GRCh38_POSITION=1:247672648;ESP6500_GS=29;ESP6500_GTC=830,2733,2940;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005487.1:c.394A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001005487.1:p.(I132V);ESP6500_MAF=42.4884,16.7726,33.7767;ESP6500_PH=benign:0.002;ESP6500_TAC=4393,8613	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1294,0,911
chr1	247672706	rs28555391	G	A	831.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.676;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=1.989;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.21;SOR=0.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28555391;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|OR13G1|OR13G1|transcript|NM_001005487.1|protein_coding|1/1|c.336C>T|p.Phe112Phe|336/924|336/924|112/307||;p3_1000G_AA=G|||;p3_1000G_AC=1649;p3_1000G_AF=0.329273;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=23332;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.3519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247836008;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1312,3094;ESP6500_AA_AGE=441.0+/-346.2;ESP6500_AA_GTC=188,936,1079;ESP6500_CDS_SIZES=NM_001005487.1:924;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=80;ESP6500_EA_AC=3098,5502;ESP6500_EA_AGE=474.3+/-368.8;ESP6500_EA_GTC=562,1974,1764;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005487.1:coding-synonymous;ESP6500_GL=OR13G1;ESP6500_GRCh38_POSITION=1:247672706;ESP6500_GTC=750,2910,2843;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001005487.1:c.336C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005487.1:p.(F112);ESP6500_MAF=36.0233,29.7776,33.9074;ESP6500_TAC=4410,8596	GT:AD:DP:GQ:PL	0/1:36,33:69:99:860,0,1074
chr1	247672905	rs28711149	T	A	686.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.136;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=1.07;SOR=0.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28711149;dbSNPBuildID=125;ANN=A|missense_variant|MODERATE|OR13G1|OR13G1|transcript|NM_001005487.1|protein_coding|1/1|c.137A>T|p.Lys46Ile|137/924|137/924|46/307||;p3_1000G_AA=A|||;p3_1000G_AC=1650;p3_1000G_AF=0.329473;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=23955;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.3519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247836207;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1312,3094;ESP6500_AA_AGE=697.4+/-406.2;ESP6500_AA_GTC=188,936,1079;ESP6500_CDS_SIZES=NM_001005487.1:924;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=80;ESP6500_EA_AC=3098,5502;ESP6500_EA_AGE=658.3+/-401.6;ESP6500_EA_GTC=562,1974,1764;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005487.1:missense;ESP6500_GL=OR13G1;ESP6500_GRCh38_POSITION=1:247672905;ESP6500_GS=102;ESP6500_GTC=750,2910,2843;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005487.1:c.137A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005487.1:p.(K46I);ESP6500_MAF=36.0233,29.7776,33.9074;ESP6500_PH=benign:0.0;ESP6500_TAC=4410,8596	GT:AD:DP:GQ:PL	0/1:32,29:61:99:715,0,847
chr1	247712113	rs2282316	A	G	1592.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=120;ExcessHet=3.0103;FS=0.683;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.609;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282316;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|OR6F1|OR6F1|transcript|NM_001005286.1|protein_coding|1/1|c.643T>C|p.Phe215Leu|643/927|643/927|215/308||;p3_1000G_AA=G|||;p3_1000G_AC=1763;p3_1000G_AF=0.352037;p3_1000G_AFR_AF=0.6929;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=22569;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.2058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247875415;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2663,1743;ESP6500_AA_AGE=519.4+/-370.0;ESP6500_AA_GTC=775,1113,315;ESP6500_CDS_SIZES=NM_001005286.1:927;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=122;ESP6500_EA_AC=1976,6624;ESP6500_EA_AGE=722.5+/-406.4;ESP6500_EA_GTC=219,1538,2543;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005286.1:missense;ESP6500_GL=OR6F1;ESP6500_GRCh38_POSITION=1:247712113;ESP6500_GS=22;ESP6500_GTC=994,2651,2858;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001005286.1:c.643T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005286.1:p.(F215L);ESP6500_MAF=22.9767,39.5597,35.6682;ESP6500_PH=benign:0.0;ESP6500_TAC=4639,8367	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1621,0,1693
chr1	247712306	rs6587382	C	G	1365.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.194;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=1.554;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.524;SOR=0.897;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6587382;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|OR6F1|OR6F1|transcript|NM_001005286.1|protein_coding|1/1|c.450G>C|p.Val150Val|450/927|450/927|150/308||;p3_1000G_AA=G|||;p3_1000G_AC=1634;p3_1000G_AF=0.326278;p3_1000G_AFR_AF=0.6067;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=19859;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.2316;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247875608;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2357,2049;ESP6500_AA_AGE=568.1+/-382.3;ESP6500_AA_GTC=602,1153,448;ESP6500_CDS_SIZES=NM_001005286.1:927;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=2202,6398;ESP6500_EA_AGE=710.9+/-405.8;ESP6500_EA_GTC=286,1630,2384;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005286.1:coding-synonymous;ESP6500_GL=OR6F1;ESP6500_GRCh38_POSITION=1:247712306;ESP6500_GTC=888,2783,2832;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001005286.1:c.450G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005286.1:p.(V150);ESP6500_MAF=25.6047,46.5048,35.0531;ESP6500_TAC=4559,8447	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1394,0,1941
chr1	247712387	rs7512807	A	G	1328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.67;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.892;SOR=0.725;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7512807;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|OR6F1|OR6F1|transcript|NM_001005286.1|protein_coding|1/1|c.369T>C|p.Cys123Cys|369/927|369/927|123/308||;p3_1000G_AA=A|||;p3_1000G_AC=789;p3_1000G_AF=0.157548;p3_1000G_AFR_AF=0.1762;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=22711;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.1203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247875689;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=784,3622;ESP6500_AA_AGE=316.1+/-294.4;ESP6500_AA_GTC=57,670,1476;ESP6500_CDS_SIZES=NM_001005286.1:927;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=79;ESP6500_EA_AC=1041,7559;ESP6500_EA_AGE=221.2+/-258.7;ESP6500_EA_GTC=68,905,3327;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005286.1:coding-synonymous;ESP6500_GL=OR6F1;ESP6500_GRCh38_POSITION=1:247712387;ESP6500_GTC=125,1575,4803;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001005286.1:c.369T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005286.1:p.(C123);ESP6500_MAF=12.1047,17.7939,14.032;ESP6500_TAC=1825,11181	GT:AD:DP:GQ:PL	0/1:57,43:100:99:1357,0,1503
chr1	247757798	rs1552812	T	G	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.162;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.125;SOR=0.72;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1552812;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|OR1C1|OR1C1|transcript|NM_012353.2|protein_coding|1/1|c.609A>C|p.Gly203Gly|609/945|609/945|203/314||;p3_1000G_AA=T|||;p3_1000G_AC=3668;p3_1000G_AF=0.732428;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=22916;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.9115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247921100;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2120,1972;ESP6500_AA_GTC=561,998,487;ESP6500_CDS_SIZES=NM_012353.2:945;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=57;ESP6500_EA_AC=7504,916;ESP6500_EA_GTC=3338,828,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012353.2:coding-synonymous;ESP6500_GL=OR1C1;ESP6500_GRCh38_POSITION=1:247757798;ESP6500_GTC=3899,1826,531;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_012353.2:c.609A>C;ESP6500_HGVS_PROTEIN_VAR=NM_012353.2:p.(G203);ESP6500_MAF=10.8789,48.1916,23.0818;ESP6500_TAC=9624,2888	GT:AD:DP:GQ:PL	0/1:27,19:46:99:521,0,784
chr1	247758050	rs1552813	C	T	1906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1552813;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|OR1C1|OR1C1|transcript|NM_012353.2|protein_coding|1/1|c.357G>A|p.Ala119Ala|357/945|357/945|119/314||;p3_1000G_AA=c|||;p3_1000G_AC=4227;p3_1000G_AF=0.84405;p3_1000G_AFR_AF=0.5825;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=21102;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.9573;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247921352;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8793;p3_1000G_VT=SNP;ESP6500_AA_AC=2538,1460;ESP6500_AA_GTC=798,942,259;ESP6500_CDS_SIZES=NM_012353.2:945;ESP6500_CG=-6.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=64;ESP6500_EA_AC=7838,496;ESP6500_EA_GTC=3685,468,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012353.2:coding-synonymous;ESP6500_GL=OR1C1;ESP6500_GRCh38_POSITION=1:247758050;ESP6500_GTC=4483,1410,273;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012353.2:c.357G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012353.2:p.(A119);ESP6500_MAF=5.9515,36.5183,15.8612;ESP6500_TAC=10376,1956	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1935,174,0
chr1	247758415	rs10888359	C	A	522.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888359;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|OR1C1|OR1C1|transcript|NM_012353.2|protein_coding||c.-9G>T|||||9|,A|intergenic_region|MODIFIER|OR1C1-OR14A16|OR1C1-OR14A16|intergenic_region|OR1C1-OR14A16|||n.247758415C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4235;p3_1000G_AF=0.845647;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=18925;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.9592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247921717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8804;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2306,1372;ESP6500_AA_GTC=718,870,251;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=16;ESP6500_EA_AC=7677,501;ESP6500_EA_GTC=3613,451,25;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:247758415;ESP6500_GTC=4331,1321,276;ESP6500_GTS=AA,AC,CC;ESP6500_MAF=6.1262,37.3029,15.7979;ESP6500_TAC=9983,1873	GT:AD:DP:GQ:PL	1/1:0,16:16:48:551,48,0
chr1	247814785	rs10888248	G	A	227.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888248;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|OR14A16|OR14A16|transcript|NM_001001966.1|protein_coding||c.*15C>T|||||15|,A|intergenic_region|MODIFIER|OR1C1-OR14A16|OR1C1-OR14A16|intergenic_region|OR1C1-OR14A16|||n.247814785G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4177;p3_1000G_AF=0.834065;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=15894;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247978087;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2542,1852;ESP6500_AA_GTC=721,1100,376;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=31;ESP6500_EA_AC=7964,622;ESP6500_EA_GTC=3696,572,25;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:247814785;ESP6500_GTC=4417,1672,401;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=7.2444,42.1484,19.0601;ESP6500_TAC=10506,2474	GT:AD:DP:GQ:PL	1/1:0,7:7:21:256,21,0
chr1	247815017	rs6695283	A	G	2360.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.34;SOR=1.103;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6695283;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|OR14A16|OR14A16|transcript|NM_001001966.1|protein_coding|1/1|c.713T>C|p.Ile238Thr|713/930|713/930|238/309||;p3_1000G_AA=G|||;p3_1000G_AC=5002;p3_1000G_AF=0.998802;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18481;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247978319;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4391,15;ESP6500_AA_AGE=22.3+/-47.3;ESP6500_AA_GTC=2188,15,0;ESP6500_CDS_SIZES=NM_001001966.1:930;ESP6500_CG=3.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=101;ESP6500_EA_AC=8599,1;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001966.1:missense;ESP6500_GL=OR14A16;ESP6500_GRCh38_POSITION=1:247815017;ESP6500_GS=89;ESP6500_GTC=6487,16,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001966.1:c.713T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001966.1:p.(I238T);ESP6500_MAF=0.0116,0.3404,0.123;ESP6500_PH=benign:0.004;ESP6500_TAC=12990,16	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2389,219,0
chr1	247815239	rs35979231;rs375198428	AAGG	A	3328.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=0.774;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs375198428,rs35979231;dbSNPBuildID=126,138;ANN=A|disruptive_inframe_deletion|MODERATE|OR14A16|OR14A16|transcript|NM_001001966.1|protein_coding|1/1|c.488_490delCCT|p.Ser163del|490/930|488/930|163/309||;p3_1000G_AC=3609;p3_1000G_AF=0.720647;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=19954;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.8797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247978541;p3_1000G_GRCH37_REF=AAGG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=INDEL;ESP6500_AA_AC=1367,2899;ESP6500_AA_GTC=211,945,977;ESP6500_CDS_SIZES=NM_001001966.1:930;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=91;ESP6500_EA_AC=7198,1056;ESP6500_EA_GTC=3139,920,68;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001966.1:coding;ESP6500_GL=OR14A16;ESP6500_GRCh38_POSITION=1:247815239;ESP6500_GTC=3350,1865,1045;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001001966.1:c.488_490del3;ESP6500_HGVS_PROTEIN_VAR=NM_001001966.1:p.(S163_L164delinsL);ESP6500_MAF=12.7938,32.0441,31.5895;ESP6500_TAC=8565,3955	GT:AD:DP:GQ:PL	1/1:0,75:75:99:3366,226,0
chr1	247815694	rs10888249	A	G	799.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888249;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|OR14A16|OR14A16|transcript|NM_001001966.1|protein_coding|1/1|c.36T>C|p.Leu12Leu|36/930|36/930|12/309||;p3_1000G_AA=G|||;p3_1000G_AC=4241;p3_1000G_AF=0.846845;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=15643;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=247978996;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2693,1713;ESP6500_AA_AGE=466.6+/-354.6;ESP6500_AA_GTC=791,1111,301;ESP6500_CDS_SIZES=NM_001001966.1:930;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=50;ESP6500_EA_AC=7988,610;ESP6500_EA_AGE=156.4+/-210.3;ESP6500_EA_GTC=3712,564,23;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001966.1:coding-synonymous;ESP6500_GL=OR14A16;ESP6500_GRCh38_POSITION=1:247815694;ESP6500_GTC=4503,1675,324;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001966.1:c.36T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001966.1:p.(L12);ESP6500_MAF=7.0947,38.8788,17.8637;ESP6500_TAC=10681,2323	GT:AD:DP:GQ:PL	1/1:0,28:28:84:828,84,0
chr1	247841312	rs6667389	G	A	1756.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6667389;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|OR11L1|OR11L1|transcript|NM_001001959.1|protein_coding|1/1|c.585C>T|p.Thr195Thr|585/969|585/969|195/322||;p3_1000G_AA=G|||;p3_1000G_AC=4241;p3_1000G_AF=0.846845;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=22437;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248004614;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2882,1524;ESP6500_AA_AGE=673.0+/-402.7;ESP6500_AA_GTC=932,1018,253;ESP6500_CDS_SIZES=NM_001001959.1:969;ESP6500_CG=-8.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=97;ESP6500_EA_AC=7585,1015;ESP6500_EA_AGE=772.6+/-407.7;ESP6500_EA_GTC=3344,897,59;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001959.1:coding-synonymous;ESP6500_GL=OR11L1;ESP6500_GRCh38_POSITION=1:247841312;ESP6500_GTC=4276,1915,312;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001959.1:c.585C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001001959.1:p.(T195);ESP6500_MAF=11.8023,34.5892,19.5218;ESP6500_TAC=10467,2539	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1785,168,0
chr1	247841385	rs10888255	C	G	1882.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=0.8;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888255;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|OR11L1|OR11L1|transcript|NM_001001959.1|protein_coding|1/1|c.512G>C|p.Arg171Pro|512/969|512/969|171/322||;p3_1000G_AA=G|||;p3_1000G_AC=4359;p3_1000G_AF=0.870407;p3_1000G_AFR_AF=0.7103;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=16726;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248004687;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3207,1199;ESP6500_AA_AGE=418.5+/-338.3;ESP6500_AA_GTC=1161,885,157;ESP6500_CDS_SIZES=NM_001001959.1:969;ESP6500_CG=4.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=89;ESP6500_EA_AC=7587,1013;ESP6500_EA_AGE=217.4+/-256.1;ESP6500_EA_GTC=3346,895,59;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001959.1:missense;ESP6500_GL=OR11L1;ESP6500_GRCh38_POSITION=1:247841385;ESP6500_GS=103;ESP6500_GTC=4507,1780,216;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001959.1:c.512G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001959.1:p.(R171P);ESP6500_MAF=11.7791,27.2129,17.0075;ESP6500_PH=benign:0.0;ESP6500_TAC=10794,2212	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1911,171,0
chr1	247841473	rs10888256	C	T	1756.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888256;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|OR11L1|OR11L1|transcript|NM_001001959.1|protein_coding|1/1|c.424G>A|p.Ala142Thr|424/969|424/969|142/322||;p3_1000G_AA=T|||;p3_1000G_AC=4460;p3_1000G_AF=0.890575;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=19238;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248004775;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3444,962;ESP6500_AA_AGE=360.4+/-315.2;ESP6500_AA_GTC=1339,766,98;ESP6500_CDS_SIZES=NM_001001959.1:969;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=56;ESP6500_EA_AC=7588,1012;ESP6500_EA_AGE=216.4+/-255.5;ESP6500_EA_GTC=3347,894,59;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001959.1:missense;ESP6500_GL=OR11L1;ESP6500_GRCh38_POSITION=1:247841473;ESP6500_GS=58;ESP6500_GTC=4686,1660,157;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001959.1:c.424G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001001959.1:p.(A142T);ESP6500_MAF=11.7674,21.8339,15.1776;ESP6500_PH=benign:0.0;ESP6500_TAC=11032,1974	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1785,168,0
chr1	247841546	rs4607924	G	C	1708.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4607924;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|OR11L1|OR11L1|transcript|NM_001001959.1|protein_coding|1/1|c.351C>G|p.Phe117Leu|351/969|351/969|117/322||;p3_1000G_AA=C|||;p3_1000G_AC=4459;p3_1000G_AF=0.890375;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=20368;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248004848;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3443,963;ESP6500_AA_AGE=364.4+/-316.9;ESP6500_AA_GTC=1338,767,98;ESP6500_CDS_SIZES=NM_001001959.1:969;ESP6500_CG=1.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=42;ESP6500_EA_AC=7588,1012;ESP6500_EA_AGE=217.3+/-256.0;ESP6500_EA_GTC=3347,894,59;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001959.1:missense;ESP6500_GL=OR11L1;ESP6500_GRCh38_POSITION=1:247841546;ESP6500_GS=22;ESP6500_GTC=4685,1661,157;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001959.1:c.351C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001001959.1:p.(F117L);ESP6500_MAF=11.7674,21.8566,15.1853;ESP6500_PH=benign:0.0;ESP6500_TAC=11031,1975	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1737,141,0
chr1	247841575	rs10888257	C	T	2136.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=1.067;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888257;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|OR11L1|OR11L1|transcript|NM_001001959.1|protein_coding|1/1|c.322G>A|p.Gly108Ser|322/969|322/969|108/322||;p3_1000G_AA=C|||;p3_1000G_AC=4362;p3_1000G_AF=0.871006;p3_1000G_AFR_AF=0.7126;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=20864;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248004877;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3209,1197;ESP6500_AA_AGE=708.1+/-407.6;ESP6500_AA_GTC=1161,887,155;ESP6500_CDS_SIZES=NM_001001959.1:969;ESP6500_CG=3.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=47;ESP6500_EA_AC=7586,1014;ESP6500_EA_AGE=771.5+/-407.7;ESP6500_EA_GTC=3346,894,60;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001959.1:missense;ESP6500_GL=OR11L1;ESP6500_GRCh38_POSITION=1:247841575;ESP6500_GS=56;ESP6500_GTC=4507,1781,215;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001959.1:c.322G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001001959.1:p.(G108S);ESP6500_MAF=11.7907,27.1675,16.9998;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=10795,2211	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,48:48:99:1|1:247841575_C_T:2165,147,0
chr1	247841582	rs1339845	T	C	2095.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1339845;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|OR11L1|OR11L1|transcript|NM_001001959.1|protein_coding|1/1|c.315A>G|p.Val105Val|315/969|315/969|105/322||;p3_1000G_AA=C|||;p3_1000G_AC=4789;p3_1000G_AF=0.95627;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=21021;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248004884;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3986,420;ESP6500_AA_AGE=204.8+/-226.9;ESP6500_AA_GTC=1800,386,17;ESP6500_CDS_SIZES=NM_001001959.1:969;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=51;ESP6500_EA_AC=8293,307;ESP6500_EA_AGE=110.0+/-170.5;ESP6500_EA_GTC=3999,295,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001959.1:coding-synonymous;ESP6500_GL=OR11L1;ESP6500_GRCh38_POSITION=1:247841582;ESP6500_GTC=5799,681,23;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001959.1:c.315A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001001959.1:p.(V105);ESP6500_MAF=3.5698,9.5325,5.5897;ESP6500_TAC=12279,727	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:247841575_C_T:2124,144,0
chr1	247841911	rs7522811	G	C	642.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7522811;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|OR11L1|OR11L1|transcript|NM_001001959.1|protein_coding||c.-15C>G|||||15|,C|intergenic_region|MODIFIER|OR11L1-TRIM58|OR11L1-TRIM58|intergenic_region|OR11L1-TRIM58|||n.247841911G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4231;p3_1000G_AF=0.844848;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=20174;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248005213;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2982,1376;ESP6500_AA_GTC=1013,956,210;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=7474,980;ESP6500_EA_GTC=3302,870,55;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:247841911;ESP6500_GTC=4315,1826,265;ESP6500_GTS=CC,CG,GG;ESP6500_MAF=11.5921,31.5741,18.389;ESP6500_TAC=10456,2356	GT:AD:DP:GQ:PL	1/1:0,20:20:60:671,60,0
chr1	247857254	rs11204523	G	C	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.42;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.536;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11204523;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|TRIM58|TRIM58|transcript|NM_015431.3|protein_coding|1/6|c.8G>C|p.Trp3Ser|56/5156|8/1461|3/486||;p3_1000G_AA=C|||;p3_1000G_AC=3406;p3_1000G_AF=0.680112;p3_1000G_AFR_AF=0.4168;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=9837;p3_1000G_EAS_AF=0.7897;p3_1000G_EUR_AF=0.7614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248020556;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2027,1973;ESP6500_AA_GTC=571,885,544;ESP6500_CDS_SIZES=NM_015431.3:1461;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=4;ESP6500_EA_AC=5979,1829;ESP6500_EA_GTC=2367,1245,292;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015431.3:missense;ESP6500_GL=TRIM58;ESP6500_GRCh38_POSITION=1:247857254;ESP6500_GS=177;ESP6500_GTC=2938,2130,836;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015431.3:c.8G>C;ESP6500_HGVS_PROTEIN_VAR=NM_015431.3:p.(W3S);ESP6500_MAF=23.4247,49.325,32.1985;ESP6500_PH=benign:0.0;ESP6500_TAC=8006,3802	GT:AD:DP:GQ:PL	0/1:7,8:15:99:218,0,220
chr1	247860664	rs3737277	C	T	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.325;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.177;SOR=0.752;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737277;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|TRIM58|TRIM58|transcript|NM_015431.3|protein_coding|2/6|c.468C>T|p.Asp156Asp|516/5156|468/1461|156/486||;p3_1000G_AA=C|||;p3_1000G_AC=1288;p3_1000G_AF=0.257188;p3_1000G_AFR_AF=0.3298;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=19154;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.2744;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248023966;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1463,2943;ESP6500_AA_AGE=471.7+/-356.1;ESP6500_AA_GTC=243,977,983;ESP6500_CDS_SIZES=NM_015431.3:1461;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=104;ESP6500_EA_AC=2429,6171;ESP6500_EA_AGE=402.2+/-347.4;ESP6500_EA_GTC=345,1739,2216;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015431.3:coding-synonymous;ESP6500_GL=TRIM58;ESP6500_GRCh38_POSITION=1:247860664;ESP6500_GTC=588,2716,3199;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015431.3:c.468C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015431.3:p.(D156);ESP6500_MAF=28.2442,33.2047,29.9247;ESP6500_TAC=3892,9114	GT:AD:DP:GQ:PL	0/1:24,20:44:99:430,0,684
chr1	247860771	rs3737276	A	C	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.445;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.92;ReadPosRankSum=0.949;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3737276;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TRIM58|TRIM58|transcript|NM_015431.3|protein_coding|2/5|c.516+59A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1376;p3_1000G_AF=0.27476;p3_1000G_AFR_AF=0.3949;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=19021;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.2744;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248024073;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,4:16:75:75,0,376
chr1	247876411	rs3811445	A	G	883.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.96;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=5.712;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.006;SOR=1.386;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811445;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|TRIM58|TRIM58|transcript|NM_015431.3|protein_coding|6/6|c.1383A>G|p.Thr461Thr|1431/5156|1383/1461|461/486||;p3_1000G_AA=G|||;p3_1000G_AC=2925;p3_1000G_AF=0.584065;p3_1000G_AFR_AF=0.534;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=20082;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.5865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248039713;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2515,1891;ESP6500_AA_AGE=545.1+/-376.7;ESP6500_AA_GTC=713,1089,401;ESP6500_CDS_SIZES=NM_015431.3:1461;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=108;ESP6500_EA_AC=5107,3493;ESP6500_EA_AGE=511.9+/-377.8;ESP6500_EA_GTC=1515,2077,708;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015431.3:coding-synonymous;ESP6500_GL=TRIM58;ESP6500_GRCh38_POSITION=1:247876411;ESP6500_GTC=2228,3166,1109;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015431.3:c.1383A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015431.3:p.(T461);ESP6500_MAF=40.6163,42.9187,41.3963;ESP6500_TAC=7622,5384	GT:AD:DP:GQ:PL	0/1:57,33:90:99:912,0,1434
chr1	247895453	rs1337876	A	G	146.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1337876;dbSNPBuildID=88;ANN=G|upstream_gene_variant|MODIFIER|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding||c.-134A>G|||||134|,G|intergenic_region|MODIFIER|TRIM58-OR2W3|TRIM58-OR2W3|intergenic_region|TRIM58-OR2W3|||n.247895453A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4766;p3_1000G_AF=0.951677;p3_1000G_AFR_AF=0.9107;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=19602;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248058755;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:174,12,0
chr1	247895495	rs1856248	T	G	356.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.23;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1856248;dbSNPBuildID=92;ANN=G|upstream_gene_variant|MODIFIER|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding||c.-92T>G|||||92|,G|intergenic_region|MODIFIER|TRIM58-OR2W3|TRIM58-OR2W3|intergenic_region|TRIM58-OR2W3|||n.247895495T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4764;p3_1000G_AF=0.951278;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=19774;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248058797;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:385,27,0
chr1	247895543	rs4500353	A	C	493.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.92;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4500353;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding||c.-44A>C|||||44|,C|intergenic_region|MODIFIER|TRIM58-OR2W3|TRIM58-OR2W3|intergenic_region|TRIM58-OR2W3|||n.247895543A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4765;p3_1000G_AF=0.951478;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=19250;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248058845;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3996,410;ESP6500_AA_GTC=1816,364,23;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=19;ESP6500_EA_AC=8431,163;ESP6500_EA_GTC=4136,159,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:247895543;ESP6500_GTC=5952,523,25;ESP6500_GTS=CC,CA,AA;ESP6500_MAF=1.8967,9.3055,4.4077;ESP6500_TAC=12427,573	GT:AD:DP:GQ:PL	1/1:0,15:15:45:522,45,0
chr1	247895577	rs6587387	A	T	901.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587387;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding||c.-10A>T|||||10|,T|intergenic_region|MODIFIER|TRIM58-OR2W3|TRIM58-OR2W3|intergenic_region|TRIM58-OR2W3|||n.247895577A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4759;p3_1000G_AF=0.95028;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=18484;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248058879;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3967,439;ESP6500_AA_AGE=211.2+/-231.4;ESP6500_AA_GTC=1789,389,25;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=40;ESP6500_EA_AC=8431,169;ESP6500_EA_AGE=77.2+/-139.8;ESP6500_EA_GTC=4134,163,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:247895577;ESP6500_GTC=5923,552,28;ESP6500_GTS=TT,TA,AA;ESP6500_MAF=1.9651,9.9637,4.6748;ESP6500_TAC=12398,608	GT:AD:DP:GQ:PL	1/1:0,28:28:84:930,84,0
chr1	247896121	rs10888267	C	T	1075.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.913;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.78;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888267;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding|1/1|c.535C>T|p.Arg179Cys|535/945|535/945|179/314||;p3_1000G_AA=T|||;p3_1000G_AC=1948;p3_1000G_AF=0.388978;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=19432;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.5308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248059423;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4172;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1016,3390;ESP6500_AA_AGE=729.4+/-410.0;ESP6500_AA_GTC=133,750,1320;ESP6500_CDS_SIZES=NM_001001957.2:945;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=104;ESP6500_EA_AC=4576,4024;ESP6500_EA_AGE=554.9+/-386.6;ESP6500_EA_GTC=1218,2140,942;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001957.2:missense;ESP6500_GL=OR2W3;ESP6500_GRCh38_POSITION=1:247896121;ESP6500_GS=180;ESP6500_GTC=1351,2890,2262;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001957.2:c.535C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001001957.2:p.(R179C);ESP6500_MAF=46.7907,23.0595,42.9955;ESP6500_PH=benign:0.001;ESP6500_TAC=5592,7414	GT:AD:DP:GQ:PL	0/1:47,43:90:99:1104,0,1270
chr1	247896154	rs12135078	G	A	1195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.61;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=0.732;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.16;SOR=0.566;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12135078;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding|1/1|c.568G>A|p.Val190Ile|568/945|568/945|190/314||;p3_1000G_AA=G|||;p3_1000G_AC=1821;p3_1000G_AF=0.363618;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=20126;p3_1000G_EAS_AF=0.5327;p3_1000G_EUR_AF=0.5507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248059456;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=597,3809;ESP6500_AA_AGE=262.8+/-265.1;ESP6500_AA_GTC=47,503,1653;ESP6500_CDS_SIZES=NM_001001957.2:945;ESP6500_CG=0.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=124;ESP6500_EA_AC=4605,3995;ESP6500_EA_AGE=599.8+/-394.1;ESP6500_EA_GTC=1230,2145,925;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001957.2:missense;ESP6500_GL=OR2W3;ESP6500_GRCh38_POSITION=1:247896154;ESP6500_GS=29;ESP6500_GTC=1277,2648,2578;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001957.2:c.568G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001001957.2:p.(V190I);ESP6500_MAF=46.4535,13.5497,39.9969;ESP6500_PH=benign:0.145;ESP6500_TAC=5202,7804	GT:AD:DP:GQ:PL	0/1:59,48:107:99:1224,0,1591
chr1	247896174	rs12139390	A	C	1347.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.836;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=3.602;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.216;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12139390;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding|1/1|c.588A>C|p.Glu196Asp|588/945|588/945|196/314||,C|sequence_feature|LOW|OR2W3|OR2W3|transmembrane-region:Transmembrane_region|NM_001001957.2|protein_coding|1/1|c.588A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2885;p3_1000G_AF=0.576078;p3_1000G_AFR_AF=0.2602;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=20333;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.7962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248059476;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1603,2803;ESP6500_AA_AGE=496.0+/-363.4;ESP6500_AA_GTC=310,983,910;ESP6500_CDS_SIZES=NM_001001957.2:945;ESP6500_CG=-2.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=139;ESP6500_EA_AC=6927,1673;ESP6500_EA_AGE=739.5+/-407.1;ESP6500_EA_GTC=2775,1377,148;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001957.2:missense;ESP6500_GL=OR2W3;ESP6500_GRCh38_POSITION=1:247896174;ESP6500_GS=45;ESP6500_GTC=3085,2360,1058;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001957.2:c.588A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001957.2:p.(E196D);ESP6500_MAF=19.4535,36.3822,34.4149;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=8530,4476	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1376,0,1658
chr1	247896401	rs11204545	T	A	1165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=0.912;SOR=0.682;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11204545;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding|1/1|c.815T>A|p.Met272Lys|815/945|815/945|272/314||;p3_1000G_AA=A|||;p3_1000G_AC=2394;p3_1000G_AF=0.478035;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=20492;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.665;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248059703;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1574,2832;ESP6500_AA_AGE=668.2+/-402.0;ESP6500_AA_GTC=284,1006,913;ESP6500_CDS_SIZES=NM_001001957.2:945;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=104;ESP6500_EA_AC=5578,3022;ESP6500_EA_AGE=465.7+/-366.6;ESP6500_EA_GTC=1802,1974,524;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001957.2:missense;ESP6500_GL=OR2W3;ESP6500_GRCh38_POSITION=1:247896401;ESP6500_GS=95;ESP6500_GTC=2086,2980,1437;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001957.2:c.815T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001001957.2:p.(M272K);ESP6500_MAF=35.1395,35.724,45.01;ESP6500_PH=benign:0.0;ESP6500_TAC=7152,5854	GT:AD:DP:GQ:PGT:PID:PL	0/1:34,31:65:99:0|1:247896401_T_A:1194,0,1788
chr1	247896410	rs11204546	T	C	1146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=0.264;SOR=0.65;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11204546;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding|1/1|c.824T>C|p.Met275Thr|824/945|824/945|275/314||;p3_1000G_AA=C|||;p3_1000G_AC=2403;p3_1000G_AF=0.479832;p3_1000G_AFR_AF=0.264;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=20442;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.667;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248059712;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1578,2828;ESP6500_AA_AGE=667.6+/-401.9;ESP6500_AA_GTC=287,1004,912;ESP6500_CDS_SIZES=NM_001001957.2:945;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=96;ESP6500_EA_AC=5617,2983;ESP6500_EA_AGE=461.8+/-365.5;ESP6500_EA_GTC=1826,1965,509;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001957.2:missense;ESP6500_GL=OR2W3;ESP6500_GRCh38_POSITION=1:247896410;ESP6500_GS=81;ESP6500_GTC=2113,2969,1421;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001957.2:c.824T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001957.2:p.(M275T);ESP6500_MAF=34.686,35.8148,44.6794;ESP6500_PH=benign:0.0;ESP6500_TAC=7195,5811	GT:AD:DP:GQ:PGT:PID:PL	0/1:32,31:63:99:0|1:247896401_T_A:1175,0,1769
chr1	247896502	rs77494867	C	T	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.844;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.987;SOR=0.108;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77494867;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding|1/1|c.916C>T|p.Leu306Leu|916/945|916/945|306/314||;p3_1000G_AA=C|||;p3_1000G_AC=462;p3_1000G_AF=0.0922524;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=18964;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248059804;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=39,4365;ESP6500_AA_AGE=38.4+/-70.7;ESP6500_AA_GTC=1,37,2164;ESP6500_CDS_SIZES=NM_001001957.2:945;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=33;ESP6500_EA_AC=284,8316;ESP6500_EA_AGE=102.9+/-164.1;ESP6500_EA_GTC=10,264,4026;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001957.2:coding-synonymous;ESP6500_GL=OR2W3;ESP6500_GRCh38_POSITION=1:247896502;ESP6500_GTC=11,301,6190;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001957.2:c.916C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001001957.2:p.(L306);ESP6500_MAF=3.3023,0.8856,2.4839;ESP6500_TAC=323,12681	GT:AD:DP:GQ:PL	0/1:13,14:27:99:425,0,436
chr1	247896554	rs10888268	T	C	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.283;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=-0.066;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888268;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|OR2W3|OR2W3|transcript|NM_001001957.2|protein_coding||c.*23T>C|||||23|,C|intergenic_region|MODIFIER|OR2W3-OR2T8|OR2W3-OR2T8|intergenic_region|OR2W3-OR2T8|||n.247896554T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2390;p3_1000G_AF=0.477236;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=19786;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248059856;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1582,2818;ESP6500_AA_GTC=302,978,920;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=16;ESP6500_EA_AC=5570,3014;ESP6500_EA_GTC=1820,1930,542;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:247896554;ESP6500_GTC=2122,2908,1462;ESP6500_GTS=CC,CT,TT;ESP6500_MAF=35.1118,35.9545,44.9168;ESP6500_TAC=7152,5832	GT:AD:DP:GQ:PL	0/1:10,6:16:99:138,0,284
chr1	247921162	rs11204564	T	C	745.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.889;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=2.832;MLEAC=1;MLEAF=0.5;MQ=45.46;MQRankSum=-2.052;QD=8.57;ReadPosRankSum=2.26;SOR=0.726;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11204564;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.145T>C|p.Trp49Arg|145/939|145/939|49/312||	GT:AD:DP:GQ:PL	0/1:48,39:87:99:774,0,1154
chr1	247921307	rs6692357	C	T	505.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.06;QD=31.61;SOR=5.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs140703773;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.290C>T|p.Ala97Val|290/939|290/939|97/312||,T|sequence_feature|LOW|OR2T8|OR2T8|transmembrane-region:Transmembrane_region|NM_001005522.1|protein_coding|1/1|c.290C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4943;p3_1000G_AF=0.987021;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs140703773;p3_1000G_DP=6147;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248084609;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:534,48,0
chr1	247921323	rs6692365	C	G	413.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.53;QD=32.74;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6692365;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.306C>G|p.Leu102Leu|306/939|306/939|102/312||;p3_1000G_AA=C|||;p3_1000G_AC=2917;p3_1000G_AF=0.582468;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=6676;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.7644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248084625;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:247921323_C_G:442,30,0
chr1	247921325	rs61857490	C	T	413.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.87;QD=31.8;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61857490;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.308C>T|p.Pro103Leu|308/939|308/939|103/312||;p3_1000G_AA=C|||;p3_1000G_AC=2920;p3_1000G_AF=0.583067;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=6836;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.7644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248084627;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:30:1|1:247921323_C_G:442,30,0
chr1	247921329	rs28689982	A	C	376.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.87;QD=26.66;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28689982;dbSNPBuildID=125;ANN=C|synonymous_variant|LOW|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.312A>C|p.Thr104Thr|312/939|312/939|104/312||;p3_1000G_AA=A|||;p3_1000G_AC=3299;p3_1000G_AF=0.658746;p3_1000G_AFR_AF=0.6717;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=7269;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.7903;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248084631;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:247921323_C_G:405,27,0
chr1	247921445	rs4523549	A	C	270.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.87;QD=33.17;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4523549;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.428A>C|p.Asn143Thr|428/939|428/939|143/312||;p3_1000G_AA=C|||;p3_1000G_AC=4722;p3_1000G_AF=0.942891;p3_1000G_AFR_AF=0.8086;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=3694;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248084747;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:21:1|1:247921445_A_C:299,21,0
chr1	247921447	rs12142488	C	A	270.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.48;QD=27.96;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12142488;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.430C>A|p.Leu144Met|430/939|430/939|144/312||,A|sequence_feature|LOW|OR2T8|OR2T8|transmembrane-region:Transmembrane_region|NM_001005522.1|protein_coding|1/1|c.430C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4727;p3_1000G_AF=0.94389;p3_1000G_AFR_AF=0.8124;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=3917;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.993;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248084749;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:21:1|1:247921445_A_C:299,21,0
chr1	247921523	rs61857492	C	T	185.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.259;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=15.315;MLEAC=1;MLEAF=0.5;MQ=29.45;MQRankSum=-2.839;QD=10.32;ReadPosRankSum=-1.141;SOR=4.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61857492;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.506C>T|p.Ala169Val|506/939|506/939|169/312||;p3_1000G_AA=C|||;p3_1000G_AC=2384;p3_1000G_AF=0.476038;p3_1000G_AFR_AF=0.4758;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=13272;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.4642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248084825;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:214,0,271
chr1	247921552	rs4584426	A	G	179.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.73;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.35;MQRankSum=3.22;QD=9.99;ReadPosRankSum=-0.976;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4584426;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.535A>G|p.Thr179Ala|535/939|535/939|179/312||	GT:AD:DP:GQ:PL	0/1:11,7:18:99:208,0,253
chr1	247921806	rs4625315	C	T	1606.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.67;QD=32.14;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4625315;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding|1/1|c.789C>T|p.His263His|789/939|789/939|263/312||	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1635,150,0
chr1	247922039	rs4925773	T	A	1068.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=3.193;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925773;dbSNPBuildID=111;ANN=A|downstream_gene_variant|MODIFIER|OR2T8|OR2T8|transcript|NM_001005522.1|protein_coding||c.*83T>A|||||83|,A|intergenic_region|MODIFIER|OR2T8-OR2L13|OR2T8-OR2L13|intergenic_region|OR2T8-OR2L13|||n.247922039T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3135;p3_1000G_AF=0.625998;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=19136;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248085341;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1097,99,0
chr1	247949325	rs4925787	T	C	2761.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=174;ExcessHet=3.0103;FS=1.2;MLEAC=1;MLEAF=0.5;MQ=55.84;MQRankSum=2.58;QD=15.87;ReadPosRankSum=-0.229;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4925787;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.468T>C|p.Cys156Cys|468/939|468/939|156/312||,C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+11941T>C||||||,C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+11941T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2063;p3_1000G_AF=0.411941;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=22525;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.6103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248112627;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=826,3580;ESP6500_AA_GTC=53,720,1430;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001001963.1:939;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=188;ESP6500_EA_AC=5178,3422;ESP6500_EA_GTC=1425,2328,547;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron,NM_001001963.1:coding-synonymous;ESP6500_GL=OR2L13,OR2L8;ESP6500_GRCh38_POSITION=1:247949325;ESP6500_GTC=1478,3048,1977;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-150051T>C,NM_001001963.1:c.468T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001001963.1:p.(C156);ESP6500_MAF=39.7907,18.7472,46.1633;ESP6500_TAC=6004,7002	GT:AD:DP:GQ:PL	0/1:72,102:174:99:2790,0,1778
chr1	247949443	rs4925788	G	T	4042.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=3.269;MLEAC=2;MLEAF=1;MQ=45.74;MQRankSum=-0.82;QD=33.41;ReadPosRankSum=1.44;SOR=0.439;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925788;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.586G>T|p.Gly196Cys|586/939|586/939|196/312||,T|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12059G>T||||||,T|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12059G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3620;p3_1000G_AF=0.722843;p3_1000G_AFR_AF=0.3283;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=18049;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.8767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248112745;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9305;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,120:121:99:4071,354,0
chr1	247949460	rs4925789	T	C	5570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=123;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.5;QD=25.37;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925789;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.603T>C|p.Ser201Ser|603/939|603/939|201/312||,C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12076T>C||||||,C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12076T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3655;p3_1000G_AF=0.729832;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.8991;p3_1000G_AN=5008;p3_1000G_DP=17220;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.9294;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248112762;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=522,3878;ESP6500_AA_GTC=177,168,1855;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001001963.1:939;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=77;ESP6500_EA_AC=6670,1876;ESP6500_EA_GTC=2988,694,591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron,NM_001001963.1:coding-synonymous;ESP6500_GL=OR2L13,OR2L8;ESP6500_GRCh38_POSITION=1:247949460;ESP6500_GTC=3165,862,2446;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-149916T>C,NM_001001963.1:c.603T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001001963.1:p.(S201);ESP6500_MAF=21.9518,11.8636,44.4462;ESP6500_TAC=7192,5754	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,123:123:99:1|1:247949460_T_C:5599,376,0
chr1	247949461	rs4925790	G	A	5631.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=123;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.77;QD=29.33;SOR=0.848;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925790;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.604G>A|p.Ala202Thr|604/939|604/939|202/312||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12077G>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12077G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=3722;p3_1000G_AF=0.743211;p3_1000G_AFR_AF=0.3177;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=16798;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.9294;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248112763;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=785,3617;ESP6500_AA_GTC=241,303,1657;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001001963.1:939;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=77;ESP6500_EA_AC=6719,1831;ESP6500_EA_GTC=3017,685,573;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron,NM_001001963.1:missense;ESP6500_GL=OR2L13,OR2L8;ESP6500_GRCh38_POSITION=1:247949461;ESP6500_GS=.,58;ESP6500_GTC=3258,988,2230;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-149915G>A,NM_001001963.1:c.604G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001001963.1:p.(A202T);ESP6500_MAF=21.4152,17.8328,42.063;ESP6500_PH=.,benign:0.0;ESP6500_TAC=7504,5448	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,123:123:99:1|1:247949460_T_C:5660,382,0
chr1	247949469	rs4925791	C	T	5437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.04;QD=29.39;SOR=0.831;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925791;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.612C>T|p.Ile204Ile|612/939|612/939|204/312||,T|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12085C>T||||||,T|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12085C>T||||||;ESP6500_AA=C;ESP6500_AA_AC=893,3513;ESP6500_AA_GTC=224,445,1534;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001001963.1:939;ESP6500_CG=-1.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=92;ESP6500_EA_AC=7334,1266;ESP6500_EA_GTC=3326,682,292;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron,NM_001001963.1:coding-synonymous;ESP6500_GL=OR2L13,OR2L8;ESP6500_GRCh38_POSITION=1:247949469;ESP6500_GTC=3550,1127,1826;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-149907C>T,NM_001001963.1:c.612C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_001001963.1:p.(I204);ESP6500_MAF=14.7209,20.2678,36.7446;ESP6500_TAC=8227,4779	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,122:122:99:1|1:247949460_T_C:5466,373,0
chr1	247949507	rs4925583	A	G	4346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=125;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.31;QD=34.77;SOR=0.709;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925583;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.650A>G|p.Tyr217Cys|650/939|650/939|217/312||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12123A>G||||||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12123A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3786;p3_1000G_AF=0.75599;p3_1000G_AFR_AF=0.2753;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=21391;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.9513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248112809;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1678,2728;ESP6500_AA_GTC=334,1010,859;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001001963.1:939;ESP6500_CG=1.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=127;ESP6500_EA_AC=8124,476;ESP6500_EA_GTC=3835,454,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron,NM_001001963.1:missense;ESP6500_GL=OR2L13,OR2L8;ESP6500_GRCh38_POSITION=1:247949507;ESP6500_GS=.,194;ESP6500_GTC=4169,1464,870;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-149869A>G,NM_001001963.1:c.650A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001001963.1:p.(Y217C);ESP6500_MAF=5.5349,38.0844,24.6348;ESP6500_PH=.,probably-damaging:1.0;ESP6500_TAC=9802,3204	GT:AD:DP:GQ:PL	1/1:0,125:125:99:4375,376,0
chr1	247949534	rs4925792	A	G	4258.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=127;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.42;QD=33.53;SOR=0.741;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4925792;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.677A>G|p.His226Arg|677/939|677/939|226/312||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12150A>G||||||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12150A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3816;p3_1000G_AF=0.761981;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=22120;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.9503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248112836;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1818,2588;ESP6500_AA_GTC=394,1030,779;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001001963.1:939;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=131;ESP6500_EA_AC=8143,457;ESP6500_EA_GTC=3853,437,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron,NM_001001963.1:missense;ESP6500_GL=OR2L13,OR2L8;ESP6500_GRCh38_POSITION=1:247949534;ESP6500_GS=.,29;ESP6500_GTC=4247,1467,789;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-149842A>G,NM_001001963.1:c.677A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001001963.1:p.(H226R);ESP6500_MAF=5.314,41.2619,23.4123;ESP6500_PH=.,benign:0.0;ESP6500_TAC=9961,3045	GT:AD:DP:GQ:PL	1/1:0,127:127:99:4287,382,0
chr1	247949613	rs10888280	A	G	1240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.23;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.12;MQRankSum=-1.7;QD=10.43;ReadPosRankSum=0.77;SOR=0.633;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888280;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.756A>G|p.Ala252Ala|756/939|756/939|252/312||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12229A>G||||||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12229A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1552;p3_1000G_AF=0.309904;p3_1000G_AFR_AF=0.1354;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=21316;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.2952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248112915;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=673,3733;ESP6500_AA_GTC=48,577,1578;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001001963.1:939;ESP6500_CG=0.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=115;ESP6500_EA_AC=2622,5974;ESP6500_EA_GTC=396,1830,2072;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron,NM_001001963.1:coding-synonymous;ESP6500_GL=OR2L13,OR2L8;ESP6500_GRCh38_POSITION=1:247949613;ESP6500_GTC=444,2407,3650;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-149763A>G,NM_001001963.1:c.756A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001001963.1:p.(A252);ESP6500_MAF=30.5026,15.2746,25.3423;ESP6500_TAC=3295,9707	GT:AD:DP:GQ:PL	0/1:71,48:119:99:1269,0,1822
chr1	247949724	rs10888281	T	A	2521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.7;QD=31.92;SOR=1.522;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888281;dbSNPBuildID=120;ANN=A|stop_gained|HIGH|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.867T>A|p.Tyr289*|867/939|867/939|289/312||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12340T>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12340T>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3735;p3_1000G_AF=0.745807;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=18199;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.9453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248113026;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9315;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1741,2665;ESP6500_AA_GTC=320,1101,782;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001001963.1:939;ESP6500_CG=-0.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=7980,616;ESP6500_EA_GTC=3692,596,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron,NM_001001963.1:stop-gained;ESP6500_GL=OR2L13,OR2L8;ESP6500_GRCh38_POSITION=1:247949724;ESP6500_GTC=4012,1697,792;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-149652T>A,NM_001001963.1:c.867T>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001001963.1:p.(Y289*);ESP6500_MAF=7.1661,39.5143,25.2346;ESP6500_TAC=9721,3281	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2550,236,0
chr1	247949738	rs10888282	A	G	2517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.65;QD=34.02;SOR=1.641;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888282;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding|1/1|c.881A>G|p.Lys294Arg|881/939|881/939|294/312||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12354A>G||||||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12354A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4698;p3_1000G_AF=0.938099;p3_1000G_AFR_AF=0.8359;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=17520;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.993;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248113040;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2546,222,0
chr1	247949819	rs12030937	C	A	631.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.4;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.266;MLEAC=1;MLEAF=0.5;MQ=57.53;MQRankSum=-1.437;QD=12.89;ReadPosRankSum=0.341;SOR=1.096;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12030937;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding||c.*23C>A|||||23|,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12435C>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12435C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1628;p3_1000G_AF=0.32508;p3_1000G_AFR_AF=0.1906;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=16636;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.2942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248113121;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=830,3574;ESP6500_AA_GTC=76,678,1448;ESP6500_CDS_SIZES=NM_175911.2:939;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=24;ESP6500_EA_AC=2612,5986;ESP6500_EA_GTC=397,1818,2084;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175911.2:intron;ESP6500_GL=OR2L13;ESP6500_GRCh38_POSITION=1:247949819;ESP6500_GTC=473,2496,3532;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-149557C>A;ESP6500_MAF=30.3792,18.8465,26.4729;ESP6500_TAC=3442,9560	GT:AD:DP:GQ:PL	0/1:23,26:49:99:660,0,628
chr1	247949904	rs10888283	C	G	656.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10888283;dbSNPBuildID=120;ANN=G|downstream_gene_variant|MODIFIER|OR2L8|OR2L8|transcript|NM_001001963.1|protein_coding||c.*108C>G|||||108|,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+12520C>G||||||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+12520C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3819;p3_1000G_AF=0.76258;p3_1000G_AFR_AF=0.298;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=17188;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.9513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248113206;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:685,66,0
chr1	247965627	rs6664332	G	A	1514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.294;ClippingRankSum=0;DP=139;ExcessHet=3.0103;FS=3.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.786;SOR=0.711;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6664332;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|OR2AK2|OR2AK2|transcript|NM_001004491.1|protein_coding|1/1|c.296G>A|p.Ser99Asn|296/1008|296/1008|99/335||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+28243G>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+28243G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1861;p3_1000G_AF=0.371605;p3_1000G_AFR_AF=0.2882;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=20363;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248128929;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1281,3125;ESP6500_AA_GTC=189,903,1111;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001004491.1:1008;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=214;ESP6500_EA_AC=2872,5728;ESP6500_EA_GTC=471,1930,1899;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_175911.2:intron,NM_001004491.1:missense;ESP6500_GL=OR2L13,OR2AK2;ESP6500_GRCh38_POSITION=1:247965627;ESP6500_GS=.,46;ESP6500_GTC=660,2833,3010;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-133749G>A,NM_001004491.1:c.296G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001004491.1:p.(S99N);ESP6500_MAF=33.3953,29.074,31.9314;ESP6500_PH=.,benign:0.0;ESP6500_TAC=4153,8853	GT:AD:DP:GQ:PL	0/1:78,60:138:99:1543,0,2499
chr1	247965938	rs4478844	G	A	1863.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.108;ClippingRankSum=0;DP=131;ExcessHet=3.0103;FS=1.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.253;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4478844;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|OR2AK2|OR2AK2|transcript|NM_001004491.1|protein_coding|1/1|c.607G>A|p.Val203Met|607/1008|607/1008|203/335||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-19+28554G>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-144+28554G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2160;p3_1000G_AF=0.43131;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=21676;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.6531;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248129240;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=856,3550;ESP6500_AA_GTC=84,688,1431;ESP6500_CDS_SIZES=NM_175911.2:939,NM_001004491.1:1008;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=83;ESP6500_EA_AC=5510,3090;ESP6500_EA_GTC=1752,2006,542;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_175911.2:intron,NM_001004491.1:missense;ESP6500_GL=OR2L13,OR2AK2;ESP6500_GRCh38_POSITION=1:247965938;ESP6500_GS=.,21;ESP6500_GTC=1836,2694,1973;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_175911.2:c.-133438G>A,NM_001004491.1:c.607G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001004491.1:p.(V203M);ESP6500_MAF=35.9302,19.4281,48.9466;ESP6500_PH=.,probably-damaging:1.0;ESP6500_TAC=6366,6640	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1892,0,1834
chr1	248039172	rs144950416	A	G	301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.92;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=3.601;MLEAC=1;MLEAF=0.5;MQ=58.33;MQRankSum=-7.497;QD=2.74;ReadPosRankSum=0.318;SOR=0.363;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144950416;dbSNPBuildID=137;ANN=G|missense_variant|MODERATE|OR2L2|OR2L2|transcript|NM_001004686.2|protein_coding|1/1|c.905A>G|p.Gln302Arg|1001/1134|905/939|302/312||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-60186A>G||||||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-59479A>G||||||	GT:AD:DP:GQ:PL	0/1:92,18:110:99:330,0,2496
chr1	248039314	rs1336665840	T	TTATTTATGTTATTTTTTAAGG	193.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.317;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.93;MQRankSum=-2.375;QD=7.18;ReadPosRankSum=-3.746;SOR=0.954;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=TTATTTATGTTATTTTTTAAGG|downstream_gene_variant|MODIFIER|OR2L2|OR2L2|transcript|NM_001004686.2|protein_coding||c.*108_*109insTATTTATGTTATTTTTTAAGG|||||10|,TTATTTATGTTATTTTTTAAGG|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-60044_-18-60043insTATTTATGTTATTTTTTAAGG||||||,TTATTTATGTTATTTTTTAAGG|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-59337_-143-59336insTATTTATGTTATTTTTTAAGG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,7:27:99:0|1:248039314_T_TTATTTATGTTATTTTTTAAGG:231,0,4471
chr1	248039315	rs1277960968	C	CTTCCTGTCAACAG	193.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.364;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.28;MQRankSum=-4.463;QD=8.81;ReadPosRankSum=-2.113;SOR=0.202;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=CTTCCTGTCAACAG|downstream_gene_variant|MODIFIER|OR2L2|OR2L2|transcript|NM_001004686.2|protein_coding||c.*109_*110insTTCCTGTCAACAG|||||11|,CTTCCTGTCAACAG|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-60042_-18-60041insTCCTGTCAACAGT||||||INFO_REALIGN_3_PRIME,CTTCCTGTCAACAG|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-59335_-143-59334insTCCTGTCAACAGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,2:22:99:0|1:248039314_T_TTATTTATGTTATTTTTTAAGG:231,0,4471
chr1	248084006	rs61856418	A	C	173.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.298;ClippingRankSum=0;DP=219;ExcessHet=3.0103;FS=3.608;MLEAC=1;MLEAF=0.5;MQ=41.97;MQRankSum=-3.288;QD=0.79;ReadPosRankSum=1.88;SOR=1.073;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61856418;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-15352A>C||||||,C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14645A>C||||||	GT:AD:DP:GQ:PL	0/1:188,31:219:99:202,0,4867
chr1	248084158	rs61334869	G	A	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.202;ClippingRankSum=0;DP=133;ExcessHet=3.0103;FS=33.717;MLEAC=1;MLEAF=0.5;MQ=46.44;MQRankSum=-6.253;QD=4.83;ReadPosRankSum=0.455;SOR=3.772;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201740330;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-15200G>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14493G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=23;p3_1000G_AF=0.00459265;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=22732;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247460;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:109,24:133:99:0|1:248084158_G_A:670,0,6382
chr1	248084159	rs58946687	G	C	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.61;ClippingRankSum=0;DP=131;ExcessHet=3.0103;FS=31.349;MLEAC=1;MLEAF=0.5;MQ=46.49;MQRankSum=-6.277;QD=4.9;ReadPosRankSum=0.715;SOR=3.718;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200103703;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-15199G>C||||||,C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14492G>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=23;p3_1000G_AF=0.00459265;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=22295;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247461;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:108,23:131:99:0|1:248084158_G_A:670,0,6382
chr1	248084284	rs10788754	T	G	2582.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.18;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=12.429;MLEAC=1;MLEAF=0.5;MQ=41.14;MQRankSum=0.236;QD=29.35;ReadPosRankSum=1.98;SOR=0.814;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10788754;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-15074T>G||||||,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14367T>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3296;p3_1000G_AF=0.658147;p3_1000G_AFR_AF=0.5408;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=22363;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.8221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247586;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,65:88:99:0|1:248084284_T_G:2611,0,1034
chr1	248084286	rs200848234	T	A	27.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.014;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=2.684;MLEAC=1;MLEAF=0.5;MQ=41.56;MQRankSum=0.391;QD=0.32;ReadPosRankSum=-0.907;SOR=0.921;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200848234;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-15072T>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14365T>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=405;p3_1000G_AF=0.0808706;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.0778;p3_1000G_AN=5008;p3_1000G_DP=20765;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.0974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247588;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:76,12:88:56:56,0,3100
chr1	248084288	rs55839802	G	A	2735.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.576;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=8.223;MLEAC=1;MLEAF=0.5;MQ=42.46;MQRankSum=0.165;QD=30.74;ReadPosRankSum=1.26;SOR=0.812;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55839802;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-15070G>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14363G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=3176;p3_1000G_AF=0.634185;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=20497;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.7962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247590;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,66:89:99:0|1:248084284_T_G:2764,0,1043
chr1	248084290	rs28460545	G	C	2710.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.14;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=6.331;MLEAC=1;MLEAF=0.5;MQ=43.18;MQRankSum=0.097;QD=29.79;ReadPosRankSum=0.87;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28460545;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-15068G>C||||||,C|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14361G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=3144;p3_1000G_AF=0.627796;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=20699;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.7773;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247592;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,67:91:99:0|1:248084284_T_G:2739,0,1025
chr1	248084443	rs58195890;rs796144556	GC	G	156.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.629;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=9.63;MLEAC=1;MLEAF=0.5;MQ=58.39;MQRankSum=-8.314;QD=1.57;ReadPosRankSum=-2.049;SOR=2.215;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs58195890;dbSNPBuildID=137,146;ANN=G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-14913delC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14206delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=c|CC|C|insertion;p3_1000G_AC=1394;p3_1000G_AF=0.278355;p3_1000G_AFR_AF=0.59;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=16979;p3_1000G_EAS_AF=0.2153;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247745;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:89,11:100:99:0|1:248084443_GC_G:194,0,3780
chr1	248084445	rs199778801	C	T	165.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.006;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=9.63;MLEAC=1;MLEAF=0.5;MQ=58.37;MQRankSum=-8.314;QD=1.66;ReadPosRankSum=-2.187;SOR=2.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199778801;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-14913C>T||||||,T|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14206C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=343;p3_1000G_AF=0.0684904;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=16839;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247747;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:89,11:100:99:0|1:248084443_GC_G:194,0,3780
chr1	248084452	rs57985790	G	A	1696.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.351;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=1.712;MLEAC=1;MLEAF=0.5;MQ=58.17;MQRankSum=1.49;QD=16.97;ReadPosRankSum=1;SOR=0.478;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57985790;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_001304535.1|protein_coding|1/1|c.-18-14906G>A||||||,A|intron_variant|MODIFIER|OR2L13|OR2L13|transcript|NM_175911.3|protein_coding|1/2|c.-143-14199G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=320;p3_1000G_AF=0.0638978;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=17527;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248247754;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,64:100:99:1725,0,859
chr1	248180241	rs9435919	C	T	2927.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.535;ClippingRankSum=0;DP=208;ExcessHet=3.0103;FS=0.509;MLEAC=1;MLEAF=0.5;MQ=57.31;MQRankSum=-0.478;QD=14.21;ReadPosRankSum=1.8;SOR=0.748;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9435919;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|OR2M2|OR2M2|transcript|NM_001004688.1|protein_coding|1/1|c.256C>T|p.Leu86Leu|256/1044|256/1044|86/347||;p3_1000G_AA=c|||;p3_1000G_AC=2897;p3_1000G_AF=0.578474;p3_1000G_AFR_AF=0.6188;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=20890;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248343543;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2728,1678;ESP6500_AA_AGE=654.4+/-399.7;ESP6500_AA_GTC=843,1042,318;ESP6500_CDS_SIZES=NM_001004688.1:1044;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=216;ESP6500_EA_AC=5583,3015;ESP6500_EA_AGE=664.4+/-402.2;ESP6500_EA_GTC=1825,1933,541;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004688.1:coding-synonymous;ESP6500_GL=OR2M2;ESP6500_GRCh38_POSITION=1:248180241;ESP6500_GTC=2668,2975,859;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004688.1:c.256C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004688.1:p.(L86);ESP6500_MAF=35.0663,38.0844,36.0889;ESP6500_TAC=8311,4693	GT:AD:DP:GQ:PL	0/1:95,111:206:99:2956,0,2772
chr1	248180643	rs4244171	C	G	2026.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.98;ClippingRankSum=0;DP=165;ExcessHet=3.0103;FS=5.617;MLEAC=1;MLEAF=0.5;MQ=55.73;MQRankSum=-8.952;QD=12.28;ReadPosRankSum=-0.48;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4244171;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|OR2M2|OR2M2|transcript|NM_001004688.1|protein_coding|1/1|c.658C>G|p.Arg220Gly|658/1044|658/1044|220/347||,G|sequence_feature|LOW|OR2M2|OR2M2|topological-domain:Cytoplasmic|NM_001004688.1|protein_coding|1/1|c.658C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=2878;p3_1000G_AF=0.574681;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=22034;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248343945;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2575,1831;ESP6500_AA_GTC=801,973,429;ESP6500_CDS_SIZES=NM_001004688.1:1044;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=189;ESP6500_EA_AC=5443,3155;ESP6500_EA_GTC=1823,1797,679;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004688.1:missense;ESP6500_GL=OR2M2;ESP6500_GRCh38_POSITION=1:248180643;ESP6500_GS=125;ESP6500_GTC=2624,2770,1108;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004688.1:c.658C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001004688.1:p.(R220G);ESP6500_MAF=36.6946,41.557,38.342;ESP6500_PH=probably-damaging:0.971;ESP6500_TAC=8018,4986	GT:AD:DP:GQ:PL	0/1:91,74:165:99:2055,0,2369
chr1	248180688	rs4916104	T	C	1931.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=153;ExcessHet=3.0103;FS=0.598;MLEAC=1;MLEAF=0.5;MQ=55.46;MQRankSum=-8.082;QD=12.63;ReadPosRankSum=-1.547;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4916104;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|OR2M2|OR2M2|transcript|NM_001004688.1|protein_coding|1/1|c.703T>C|p.Cys235Arg|703/1044|703/1044|235/347||;p3_1000G_AA=C|||;p3_1000G_AC=2903;p3_1000G_AF=0.579673;p3_1000G_AFR_AF=0.6142;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=20359;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248343990;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2517,1889;ESP6500_AA_GTC=810,897,496;ESP6500_CDS_SIZES=NM_001004688.1:1044;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=162;ESP6500_EA_AC=5393,3205;ESP6500_EA_GTC=1825,1743,731;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004688.1:missense;ESP6500_GL=OR2M2;ESP6500_GRCh38_POSITION=1:248180688;ESP6500_GS=180;ESP6500_GTC=2635,2640,1227;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004688.1:c.703T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004688.1:p.(C235R);ESP6500_MAF=37.2761,42.8734,39.1726;ESP6500_PH=benign:0.0;ESP6500_TAC=7910,5094	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1960,0,2014
chr1	248203400	rs4916112	G	A	2154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.694;ClippingRankSum=0;DP=166;ExcessHet=3.0103;FS=1.948;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.427;SOR=0.903;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4916112;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|OR2M3|OR2M3|transcript|NM_001004689.1|protein_coding|1/1|c.333G>A|p.Glu111Glu|333/939|333/939|111/312||;p3_1000G_AA=A|||;p3_1000G_AC=2419;p3_1000G_AF=0.483027;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=19244;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.6083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248366702;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1684,2722;ESP6500_AA_AGE=654.9+/-399.8;ESP6500_AA_GTC=294,1096,813;ESP6500_CDS_SIZES=NM_001004689.1:939;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=251;ESP6500_EA_AC=5311,3289;ESP6500_EA_AGE=491.9+/-373.2;ESP6500_EA_GTC=1639,2033,628;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004689.1:coding-synonymous;ESP6500_GL=OR2M3;ESP6500_GRCh38_POSITION=1:248203400;ESP6500_GTC=1933,3129,1441;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001004689.1:c.333G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004689.1:p.(E111);ESP6500_MAF=38.2442,38.2206,46.2171;ESP6500_TAC=6995,6011	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2183,0,2498
chr1	248203490	rs12562957	T	C	2010.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=138;ExcessHet=3.0103;FS=4.056;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=2.03;SOR=1;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12562957;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|OR2M3|OR2M3|transcript|NM_001004689.1|protein_coding|1/1|c.423T>C|p.Cys141Cys|423/939|423/939|141/312||;p3_1000G_AA=T|||;p3_1000G_AC=1232;p3_1000G_AF=0.246006;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=19737;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.1451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248366792;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=688,3718;ESP6500_AA_AGE=290.4+/-280.9;ESP6500_AA_GTC=61,566,1576;ESP6500_CDS_SIZES=NM_001004689.1:939;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=208;ESP6500_EA_AC=1258,7342;ESP6500_EA_AGE=251.1+/-277.7;ESP6500_EA_GTC=90,1078,3132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004689.1:coding-synonymous;ESP6500_GL=OR2M3;ESP6500_GRCh38_POSITION=1:248203490;ESP6500_GTC=151,1644,4708;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004689.1:c.423T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004689.1:p.(C141);ESP6500_MAF=14.6279,15.6151,14.9623;ESP6500_TAC=1946,11060	GT:AD:DP:GQ:PL	0/1:63,75:138:99:2039,0,1634
chr1	248204113	rs4916082	C	T	724.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4916082;dbSNPBuildID=111;ANN=T|downstream_gene_variant|MODIFIER|OR2M3|OR2M3|transcript|NM_001004689.1|protein_coding||c.*107C>T|||||107|,T|intergenic_region|MODIFIER|OR2M3-OR2M4|OR2M3-OR2M4|intergenic_region|OR2M3-OR2M4|||n.248204113C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=3998;p3_1000G_AF=0.798323;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=17213;p3_1000G_EAS_AF=0.7897;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248367415;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:753,66,0
chr1	248239456	rs6666148	C	T	3517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=0.711;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6666148;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|OR2M4|OR2M4|transcript|NM_017504.1|protein_coding|1/1|c.528C>T|p.His176His|528/936|528/936|176/311||;p3_1000G_AA=c|||;p3_1000G_AC=3520;p3_1000G_AF=0.702875;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=22438;p3_1000G_EAS_AF=0.7966;p3_1000G_EUR_AF=0.7346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248402758;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2207,2199;ESP6500_AA_AGE=587.9+/-386.8;ESP6500_AA_GTC=545,1117,541;ESP6500_CDS_SIZES=NM_017504.1:936;ESP6500_CG=-2.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=132;ESP6500_EA_AC=6428,2172;ESP6500_EA_AGE=370.0+/-335.7;ESP6500_EA_GTC=2423,1582,295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017504.1:coding-synonymous;ESP6500_GL=OR2M4;ESP6500_GRCh38_POSITION=1:248239456;ESP6500_GTC=2968,2699,836;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017504.1:c.528C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017504.1:p.(H176);ESP6500_MAF=25.2558,49.9092,33.6076;ESP6500_TAC=8635,4371	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3546,326,0
chr1	248273154	rs142107755	C	A	17.84	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=8.079;MLEAC=1;MLEAF=0.5;MQ=37.97;MQRankSum=-4.07;QD=0.24;ReadPosRankSum=-0.045;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142107755;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.661G>T|p.Ala221Ser|661/963|661/963|221/320||	GT:AD:DP:GQ:PL	0/1:64,10:74:46:46,0,1935
chr1	248273309	rs10888338	G	A	2533.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.176;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=7.684;MLEAC=1;MLEAF=0.5;MQ=47.32;MQRankSum=3.99;QD=25.34;ReadPosRankSum=2.74;SOR=0.128;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888338;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.506C>T|p.Ala169Val|506/963|506/963|169/320||;p3_1000G_AA=g|||;p3_1000G_AC=3266;p3_1000G_AF=0.652157;p3_1000G_AFR_AF=0.5461;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=15924;p3_1000G_EAS_AF=0.7798;p3_1000G_EUR_AF=0.5855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248436611;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7689;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,88:100:99:2562,0,116
chr1	248273314	rs10909376	A	G	4408.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.82;QD=27.92;SOR=2.004;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71538179;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.501T>C|p.Cys167Cys|501/963|501/963|167/320||;p3_1000G_AA=g|||;p3_1000G_AC=4073;p3_1000G_AF=0.813299;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs71538179;p3_1000G_DP=14665;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.7227;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248436616;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,104:104:99:4437,313,0
chr1	248273336	rs200877558;403272	A	G	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.4;ClippingRankSum=0;DP=116;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.65;MQRankSum=-6.003;QD=2.58;ReadPosRankSum=-1.614;SOR=0.607;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200877558;dbSNPBuildID=137;ANN=G|missense_variant|MODERATE|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.479T>C|p.Val160Ala|479/963|479/963|160/320||;CLINVAR_ALLELEID=389435;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.248273336A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=OR2T33:391195;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=200877558	GT:AD:DP:GQ:PL	0/1:94,22:116:99:328,0,2859
chr1	248273503	rs28399248	T	G	4770.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.04;QD=32.21;SOR=0.814;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28399248;dbSNPBuildID=125;ANN=G|synonymous_variant|LOW|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.312A>C|p.Thr104Thr|312/963|312/963|104/320||	GT:AD:DP:GQ:PL	1/1:0,121:121:99:4799,367,0
chr1	248273507	rs61832700	G	A	1445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.156;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=1.536;MLEAC=1;MLEAF=0.5;MQ=40.6;MQRankSum=-3.139;QD=11.95;ReadPosRankSum=-1.008;SOR=0.913;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61832700;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.308C>T|p.Pro103Leu|308/963|308/963|103/320||	GT:AD:DP:GQ:PGT:PID:PL	0/1:79,42:121:99:0|1:248273507_G_A:1474,0,3224
chr1	248273509	rs61832701	G	C	1445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.542;ClippingRankSum=0;DP=118;ExcessHet=3.0103;FS=2.543;MLEAC=1;MLEAF=0.5;MQ=40.12;MQRankSum=-3.906;QD=12.25;ReadPosRankSum=-0.021;SOR=1;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61832701;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.306C>G|p.Leu102Leu|306/963|306/963|102/320||	GT:AD:DP:GQ:PGT:PID:PL	0/1:79,39:118:99:0|1:248273507_G_A:1474,0,3224
chr1	248273555	rs75662887	C	T	627.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.615;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=4.307;MLEAC=1;MLEAF=0.5;MQ=39.39;MQRankSum=-1.604;QD=5.98;ReadPosRankSum=0.234;SOR=0.647;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs137984104;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.260G>A|p.Ser87Asn|260/963|260/963|87/320||	GT:AD:DP:GQ:PL	0/1:79,26:105:99:656,0,2322
chr1	248273610	rs201497316	T	C	30.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.31;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=29.028;MLEAC=1;MLEAF=0.5;MQ=43.27;MQRankSum=-5.085;QD=0.31;ReadPosRankSum=1.45;SOR=4.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201497316;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.205A>G|p.Met69Val|205/963|205/963|69/320||	GT:AD:DP:GQ:PL	0/1:88,12:100:59:59,0,2418
chr1	248273670	rs77209285	A	G	1245.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.77;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.04;MQRankSum=-1.327;QD=13.4;ReadPosRankSum=1.08;SOR=0.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112084843;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding|1/1|c.145T>C|p.Trp49Arg|145/963|145/963|49/320||	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1274,0,1190
chr1	248273908	rs28407436	T	C	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.849;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28407436;dbSNPBuildID=125;ANN=C|upstream_gene_variant|MODIFIER|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding||c.-94A>G|||||94|,C|intergenic_region|MODIFIER|OR2T33-OR2T12|OR2T33-OR2T12|intergenic_region|OR2T33-OR2T12|||n.248273908T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=1313;p3_1000G_AF=0.262181;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=14182;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.1849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248437210;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,12:26:99:329,0,365
chr1	248273945	rs144591821;rs67335738	GCCCTAA	G	772.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.7;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs144591821,rs67335738;dbSNPBuildID=134,130;ANN=G|upstream_gene_variant|MODIFIER|OR2T33|OR2T33|transcript|NM_001004695.1|protein_coding||c.-137_-132delTTAGGG|||||132|,G|intergenic_region|MODIFIER|OR2T33-OR2T12|OR2T33-OR2T12|intergenic_region|OR2T33-OR2T12|||n.248273946_248273951delCCCTAA||||||;p3_1000G_AC=4035;p3_1000G_AF=0.805711;p3_1000G_AFR_AF=0.767;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=13746;p3_1000G_EAS_AF=0.8611;p3_1000G_EUR_AF=0.7256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248437247;p3_1000G_GRCH37_REF=GCCCTAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:810,54,0
chr1	248294677	rs6667171	C	A	2822.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6667171;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.902G>T|p.Arg301Leu|902/963|902/963|301/320||;p3_1000G_AA=N|||;p3_1000G_AC=3980;p3_1000G_AF=0.794728;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19195;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248457979;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3382,1024;ESP6500_AA_AGE=728.5+/-409.9;ESP6500_AA_GTC=1274,834,95;ESP6500_CDS_SIZES=NM_001004692.1:963;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=162;ESP6500_EA_AC=6434,2166;ESP6500_EA_AGE=713.1+/-405.9;ESP6500_EA_GTC=2427,1580,293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004692.1:missense;ESP6500_GL=OR2T12;ESP6500_GRCh38_POSITION=1:248294677;ESP6500_GS=102;ESP6500_GTC=3701,2414,388;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004692.1:c.902G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004692.1:p.(R301L);ESP6500_MAF=25.186,23.241,24.5271;ESP6500_PH=benign:0.01;ESP6500_TAC=9816,3190	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,82:82:99:1|1:248294677_C_A:2851,246,0
chr1	248294691	rs11204625	C	G	605.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.959;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=4.677;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=0.762;QD=7.87;ReadPosRankSum=-0.032;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11204625;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.888G>C|p.Lys296Asn|888/963|888/963|296/320||;p3_1000G_AA=N|||;p3_1000G_AC=1067;p3_1000G_AF=0.213059;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=18443;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248457993;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=194,4212;ESP6500_AA_GTC=4,186,2013;ESP6500_CDS_SIZES=NM_001004692.1:963;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=161;ESP6500_EA_AC=1474,7126;ESP6500_EA_GTC=128,1218,2954;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004692.1:missense;ESP6500_GL=OR2T12;ESP6500_GRCh38_POSITION=1:248294691;ESP6500_GS=94;ESP6500_GTC=132,1404,4967;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004692.1:c.888G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004692.1:p.(K296N);ESP6500_MAF=17.1395,4.4031,12.8249;ESP6500_PH=possibly-damaging:0.952;ESP6500_TAC=1668,11338	GT:AD:DP:GQ:PGT:PID:PL	0/1:50,27:77:99:0|1:248294677_C_A:634,0,1410
chr1	248295267	rs35216356	T	G	93.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.338;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=13.477;MLEAC=1;MLEAF=0.5;MQ=33.7;MQRankSum=0.464;QD=1.42;ReadPosRankSum=-2.114;SOR=1.243;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35216356;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.312A>C|p.Thr104Thr|312/963|312/963|104/320||;p3_1000G_AA=-|||;p3_1000G_AC=166;p3_1000G_AF=0.033147;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=18636;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248458569;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:54,12:66:99:0|1:248295267_T_G:122,0,1964
chr1	248295269	rs12137982	T	A	907.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=7.35;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=2.13;MLEAC=1;MLEAF=0.5;MQ=33.59;MQRankSum=0.173;QD=13.97;ReadPosRankSum=2.14;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12137982;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.310A>T|p.Thr104Ser|310/963|310/963|104/320||;p3_1000G_AA=-|||;p3_1000G_AC=1946;p3_1000G_AF=0.388578;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=17561;p3_1000G_EAS_AF=0.498;p3_1000G_EUR_AF=0.5139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248458571;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,32:65:99:1|0:248295267_T_G:936,0,1017
chr1	248295374	rs6678138	T	C	2214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.65;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=9.617;MLEAC=1;MLEAF=0.5;MQ=41.65;MQRankSum=1.38;QD=33.06;ReadPosRankSum=-1.6;SOR=0.538;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6678138;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.205A>G|p.Met69Val|205/963|205/963|69/320||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,56:67:99:0|1:248295374_T_C:2243,0,278
chr1	248295387	rs6674940	A	G	2319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=5.127;MLEAC=1;MLEAF=0.5;MQ=44.42;MQRankSum=1.63;QD=34.11;ReadPosRankSum=1.01;SOR=0.331;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6674940;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.192T>C|p.Leu64Leu|192/963|192/963|64/320||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,58:68:99:0|1:248295374_T_C:2348,0,242
chr1	248295415	rs12745228	C	G	2646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.19;QD=31.26;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12745228;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.164G>C|p.Arg55Thr|164/963|164/963|55/320||	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2675,222,0
chr1	248295434	rs28409263	A	G	1095.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.086;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0.883;MLEAC=1;MLEAF=0.5;MQ=50.1;MQRankSum=-0.727;QD=14.05;ReadPosRankSum=-0.329;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28409263;dbSNPBuildID=125;ANN=G|missense_variant|MODERATE|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.145T>C|p.Trp49Arg|145/963|145/963|49/320||;p3_1000G_AA=-|||;p3_1000G_AC=1138;p3_1000G_AF=0.227236;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=14030;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248458736;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=279,4127;ESP6500_AA_AGE=793.8+/-415.2;ESP6500_AA_GTC=21,237,1945;ESP6500_CDS_SIZES=NM_001004692.1:963;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=85;ESP6500_EA_AC=1221,7379;ESP6500_EA_AGE=745.6+/-407.3;ESP6500_EA_GTC=124,973,3203;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004692.1:missense;ESP6500_GL=OR2T12;ESP6500_GRCh38_POSITION=1:248295434;ESP6500_GS=101;ESP6500_GTC=145,1210,5148;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004692.1:c.145T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004692.1:p.(W49R);ESP6500_MAF=14.1977,6.3323,11.5331;ESP6500_PH=benign:0.0;ESP6500_TAC=1500,11506	GT:AD:DP:GQ:PGT:PID:PL	0/1:46,32:78:99:0|1:248295434_A_G:1124,0,1769
chr1	248295458	rs12135684	C	A	1049.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.106;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=1.972;MLEAC=1;MLEAF=0.5;MQ=52.52;MQRankSum=-0.105;QD=14.19;ReadPosRankSum=1.24;SOR=0.969;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12135684;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.121G>T|p.Ala41Ser|121/963|121/963|41/320||;p3_1000G_AA=-|||;p3_1000G_AC=1258;p3_1000G_AF=0.251198;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=15579;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.1849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248458760;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=581,3825;ESP6500_AA_AGE=248.4+/-256.2;ESP6500_AA_GTC=45,491,1667;ESP6500_CDS_SIZES=NM_001004692.1:963;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=100;ESP6500_EA_AC=1560,7040;ESP6500_EA_AGE=288.6+/-298.9;ESP6500_EA_GTC=144,1272,2884;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004692.1:missense;ESP6500_GL=OR2T12;ESP6500_GRCh38_POSITION=1:248295458;ESP6500_GS=99;ESP6500_GTC=189,1763,4551;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004692.1:c.121G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004692.1:p.(A41S);ESP6500_MAF=18.1395,13.1866,16.4616;ESP6500_PH=benign:0.001;ESP6500_TAC=2141,10865	GT:AD:DP:GQ:PGT:PID:PL	0/1:45,29:74:99:0|1:248295434_A_G:1078,0,1783
chr1	248295573	rs11339452	CT	C	700.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.322;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.47;MQRankSum=-1.923;QD=18.94;ReadPosRankSum=1.34;SOR=0.733;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11339452;dbSNPBuildID=126;ANN=C|frameshift_variant|HIGH|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding|1/1|c.5delA|p.Glu2fs|5/963|5/963|2/320||;p3_1000G_AA=|||unknown(ALL_OTHER_Ns);p3_1000G_AC=1075;p3_1000G_AF=0.214657;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=14731;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248458875;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=INDEL;ESP6500_AA_AC=202,4060;ESP6500_AA_GTC=4,194,1933;ESP6500_CDS_SIZES=NM_001004692.1:963;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=70;ESP6500_EA_AC=1430,6824;ESP6500_EA_GTC=123,1184,2820;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004692.1:frameshift;ESP6500_GL=OR2T12;ESP6500_GRCh38_POSITION=1:248295573;ESP6500_GTC=127,1378,4753;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001004692.1:c.5del1;ESP6500_HGVS_PROTEIN_VAR=NM_001004692.1:p.(E2Gfs*2);ESP6500_MAF=17.3249,4.7396,13.0393;ESP6500_TAC=1632,10884	GT:AD:DP:GQ:PL	0/1:16,21:37:99:738,0,531
chr1	248295672	rs11204626	T	A	665.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.6;QD=31.7;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11204626;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|OR2T12|OR2T12|transcript|NM_001004692.1|protein_coding||c.-94A>T|||||94|,A|intergenic_region|MODIFIER|OR2T12-OR2M7|OR2T12-OR2M7|intergenic_region|OR2T12-OR2M7|||n.248295672T>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=4136;p3_1000G_AF=0.825879;p3_1000G_AFR_AF=0.8487;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=14391;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.7227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248458974;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:694,63,0
chr1	248323593	rs4244184	G	T	1282.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=3.026;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4244184;dbSNPBuildID=111;ANN=T|downstream_gene_variant|MODIFIER|OR2M7|OR2M7|transcript|NM_001004691.1|protein_coding||c.*37C>A|||||37|,T|intergenic_region|MODIFIER|OR2T12-OR2M7|OR2T12-OR2M7|intergenic_region|OR2T12-OR2M7|||n.248323593G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=4133;p3_1000G_AF=0.82528;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=19643;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248486895;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3710,694;ESP6500_AA_GTC=1565,580,57;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=32;ESP6500_EA_AC=6414,2184;ESP6500_EA_GTC=2419,1576,304;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:248323593;ESP6500_GTC=3984,2156,361;ESP6500_GTS=TT,TG,GG;ESP6500_MAF=25.4013,15.7584,22.1351;ESP6500_TAC=10124,2878	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1311,108,0
chr1	248323611	rs4244185	A	G	1625.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=2.348;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4244185;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|OR2M7|OR2M7|transcript|NM_001004691.1|protein_coding||c.*19T>C|||||19|,G|intergenic_region|MODIFIER|OR2T12-OR2M7|OR2T12-OR2M7|intergenic_region|OR2T12-OR2M7|||n.248323611A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4013;p3_1000G_AF=0.801318;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=19317;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.7147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248486913;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3416,990;ESP6500_AA_AGE=704.0+/-407.1;ESP6500_AA_GTC=1320,776,107;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=45;ESP6500_EA_AC=6422,2178;ESP6500_EA_AGE=698.1+/-405.0;ESP6500_EA_GTC=2415,1592,293;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:248323611;ESP6500_GTC=3735,2368,400;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=25.3256,22.4694,24.358;ESP6500_TAC=9838,3168	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1654,153,0
chr1	248323714	rs4451579	C	T	1258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.86;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=6.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=2.23;SOR=1.312;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4451579;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|OR2M7|OR2M7|transcript|NM_001004691.1|protein_coding|1/1|c.855G>A|p.Leu285Leu|855/939|855/939|285/312||;p3_1000G_AA=.|||;p3_1000G_AC=1070;p3_1000G_AF=0.213658;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=19077;p3_1000G_EAS_AF=0.3641;p3_1000G_EUR_AF=0.172;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248487016;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=194,4212;ESP6500_AA_AGE=120.8+/-158.4;ESP6500_AA_GTC=4,186,2013;ESP6500_CDS_SIZES=NM_001004691.1:939;ESP6500_CG=-1.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=96;ESP6500_EA_AC=1451,7149;ESP6500_EA_AGE=277.8+/-293.0;ESP6500_EA_GTC=125,1201,2974;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004691.1:coding-synonymous;ESP6500_GL=OR2M7;ESP6500_GRCh38_POSITION=1:248323714;ESP6500_GTC=129,1387,4987;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004691.1:c.855G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004691.1:p.(L285);ESP6500_MAF=16.8721,4.4031,12.648;ESP6500_TAC=1645,11361	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1287,0,1721
chr1	248323998	rs4916129	C	T	2100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.512;ClippingRankSum=0;DP=169;ExcessHet=3.0103;FS=1.901;MLEAC=1;MLEAF=0.5;MQ=59.65;MQRankSum=0.428;QD=12.43;ReadPosRankSum=0.761;SOR=0.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4916129;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|OR2M7|OR2M7|transcript|NM_001004691.1|protein_coding|1/1|c.571G>A|p.Asp191Asn|571/939|571/939|191/312||;p3_1000G_AA=c|||;p3_1000G_AC=2036;p3_1000G_AF=0.40655;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=23334;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248487300;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=975,3431;ESP6500_AA_AGE=367.8+/-318.4;ESP6500_AA_GTC=102,771,1330;ESP6500_CDS_SIZES=NM_001004691.1:939;ESP6500_CG=1.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=220;ESP6500_EA_AC=4730,3866;ESP6500_EA_AGE=607.2+/-395.2;ESP6500_EA_GTC=1302,2126,870;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004691.1:missense;ESP6500_GL=OR2M7;ESP6500_GRCh38_POSITION=1:248323998;ESP6500_GS=23;ESP6500_GTC=1404,2897,2200;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004691.1:c.571G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004691.1:p.(D191N);ESP6500_MAF=44.9744,22.1289,43.8779;ESP6500_PH=benign:0.041;ESP6500_TAC=5705,7297	GT:AD:DP:GQ:PL	0/1:82,87:169:99:2129,0,2552
chr1	248324036	rs4916130	C	A	5037.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=152;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.68;QD=33.14;SOR=0.719;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4916130;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|OR2M7|OR2M7|transcript|NM_001004691.1|protein_coding|1/1|c.533G>T|p.Cys178Phe|533/939|533/939|178/312||;p3_1000G_AA=a|||;p3_1000G_AC=4144;p3_1000G_AF=0.827476;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=22040;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248487338;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3737,669;ESP6500_AA_AGE=268.0+/-268.2;ESP6500_AA_GTC=1591,555,57;ESP6500_CDS_SIZES=NM_001004691.1:939;ESP6500_CG=-0.3;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=188;ESP6500_EA_AC=6360,2236;ESP6500_EA_AGE=364.7+/-333.6;ESP6500_EA_GTC=2413,1534,351;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004691.1:missense;ESP6500_GL=OR2M7;ESP6500_GRCh38_POSITION=1:248324036;ESP6500_GS=205;ESP6500_GTC=4004,2089,408;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004691.1:c.533G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004691.1:p.(C178F);ESP6500_MAF=26.0121,15.1838,22.3427;ESP6500_PH=benign:0.0;ESP6500_TAC=10097,2905	GT:AD:DP:GQ:PL	1/1:0,152:152:99:5066,456,0
chr1	248324336	rs7555310	A	G	5430.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=153;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=0.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7555310;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|OR2M7|OR2M7|transcript|NM_001004691.1|protein_coding|1/1|c.233T>C|p.Val78Ala|233/939|233/939|78/312||;p3_1000G_AA=a|||;p3_1000G_AC=4009;p3_1000G_AF=0.800519;p3_1000G_AFR_AF=0.77;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=21843;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.7117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248487638;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3420,986;ESP6500_AA_AGE=732.6+/-410.4;ESP6500_AA_GTC=1321,778,104;ESP6500_CDS_SIZES=NM_001004691.1:939;ESP6500_CG=-0.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=274;ESP6500_EA_AC=6420,2180;ESP6500_EA_AGE=712.3+/-405.9;ESP6500_EA_GTC=2414,1592,294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004691.1:missense;ESP6500_GL=OR2M7;ESP6500_GRCh38_POSITION=1:248324336;ESP6500_GS=64;ESP6500_GTC=3735,2370,398;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004691.1:c.233T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004691.1:p.(V78A);ESP6500_MAF=25.3488,22.3786,24.3426;ESP6500_PH=probably-damaging:0.969;ESP6500_TAC=9840,3166	GT:AD:DP:GQ:PL	1/1:0,153:153:99:5459,459,0
chr1	248324466	rs7555424	A	G	5504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=166;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=0.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7555424;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|OR2M7|OR2M7|transcript|NM_001004691.1|protein_coding|1/1|c.103T>C|p.Phe35Leu|103/939|103/939|35/312||;p3_1000G_AA=a|||;p3_1000G_AC=4011;p3_1000G_AF=0.800919;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=18753;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248487768;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3420,986;ESP6500_AA_AGE=732.6+/-410.4;ESP6500_AA_GTC=1321,778,104;ESP6500_CDS_SIZES=NM_001004691.1:939;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=246;ESP6500_EA_AC=6419,2181;ESP6500_EA_AGE=712.2+/-405.9;ESP6500_EA_GTC=2414,1591,295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004691.1:missense;ESP6500_GL=OR2M7;ESP6500_GRCh38_POSITION=1:248324466;ESP6500_GS=22;ESP6500_GTC=3735,2369,399;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004691.1:c.103T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004691.1:p.(F35L);ESP6500_MAF=25.3605,22.3786,24.3503;ESP6500_PH=possibly-damaging:0.85;ESP6500_TAC=9839,3167	GT:AD:DP:GQ:PL	1/1:0,166:166:99:5533,499,0
chr1	248348762	rs28372410	T	G	940.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=3.303;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.17;SOR=1.118;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28372410;dbSNPBuildID=125;ANN=G|upstream_gene_variant|MODIFIER|OR14C36|OR14C36|transcript|NM_001001918.1|protein_coding||c.-13T>G|||||13|,G|intergenic_region|MODIFIER|OR2M7-OR14C36|OR2M7-OR14C36|intergenic_region|OR2M7-OR14C36|||n.248348762T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2327;p3_1000G_AF=0.464657;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=18203;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248512064;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1836,2570;ESP6500_AA_AGE=634.2+/-396.2;ESP6500_AA_GTC=381,1074,748;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=90;ESP6500_EA_AC=4896,3704;ESP6500_EA_AGE=528.7+/-381.4;ESP6500_EA_GTC=1391,2114,795;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:248348762;ESP6500_GTC=1772,3188,1543;ESP6500_GTS=GG,GT,TT;ESP6500_MAF=43.0698,41.6704,48.2393;ESP6500_TAC=6732,6274	GT:AD:DP:GQ:PL	0/1:43,34:77:99:969,0,1219
chr1	248348792	rs28728105	C	T	1110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.619;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=5.595;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.908;SOR=1.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28728105;dbSNPBuildID=125;ANN=T|synonymous_variant|LOW|OR14C36|OR14C36|transcript|NM_001001918.1|protein_coding|1/1|c.18C>T|p.Thr6Thr|18/939|18/939|6/312||;p3_1000G_AA=c|||;p3_1000G_AC=2325;p3_1000G_AF=0.464257;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=19251;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.5239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248512094;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1837,2569;ESP6500_AA_AGE=537.1+/-374.7;ESP6500_AA_GTC=382,1073,748;ESP6500_CDS_SIZES=NM_001001918.1:939;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=122;ESP6500_EA_AC=4898,3702;ESP6500_EA_AGE=619.7+/-397.0;ESP6500_EA_GTC=1392,2114,794;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001918.1:coding-synonymous;ESP6500_GL=OR14C36;ESP6500_GRCh38_POSITION=1:248348792;ESP6500_GTC=1774,3187,1542;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001918.1:c.18C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001001918.1:p.(T6);ESP6500_MAF=43.0465,41.6931,48.2162;ESP6500_TAC=6735,6271	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1139,0,1364
chr1	248349196	rs28448343	A	G	1344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.148;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-0.058;SOR=0.685;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28448343;dbSNPBuildID=125;ANN=G|missense_variant|MODERATE|OR14C36|OR14C36|transcript|NM_001001918.1|protein_coding|1/1|c.422A>G|p.Gln141Arg|422/939|422/939|141/312||;p3_1000G_AA=a|||;p3_1000G_AC=1274;p3_1000G_AF=0.254393;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=22483;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.1938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248512498;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3538;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=484,3922;ESP6500_AA_AGE=225.2+/-241.2;ESP6500_AA_GTC=28,428,1747;ESP6500_CDS_SIZES=NM_001001918.1:939;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=99;ESP6500_EA_AC=1637,6963;ESP6500_EA_AGE=303.4+/-306.4;ESP6500_EA_GTC=154,1329,2817;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001918.1:missense;ESP6500_GL=OR14C36;ESP6500_GRCh38_POSITION=1:248349196;ESP6500_GS=43;ESP6500_GTC=182,1757,4564;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001918.1:c.422A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001001918.1:p.(Q141R);ESP6500_MAF=19.0349,10.985,16.3079;ESP6500_PH=probably-damaging:0.988;ESP6500_TAC=2121,10885	GT:AD:DP:GQ:PL	0/1:36,50:86:99:1373,0,1003
chr1	248349335	rs2039824	C	T	785.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.447;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=2.29;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.214;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2039824;dbSNPBuildID=94;ANN=T|synonymous_variant|LOW|OR14C36|OR14C36|transcript|NM_001001918.1|protein_coding|1/1|c.561C>T|p.Cys187Cys|561/939|561/939|187/312||;p3_1000G_AA=c|||;p3_1000G_AC=2306;p3_1000G_AF=0.460463;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=22340;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.5239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248512637;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1764,2642;ESP6500_AA_AGE=525.5+/-371.6;ESP6500_AA_GTC=352,1060,791;ESP6500_CDS_SIZES=NM_001001918.1:939;ESP6500_CG=1.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=148;ESP6500_EA_AC=4894,3706;ESP6500_EA_AGE=619.6+/-396.9;ESP6500_EA_GTC=1390,2114,796;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001918.1:coding-synonymous;ESP6500_GL=OR14C36;ESP6500_GRCh38_POSITION=1:248349335;ESP6500_GTC=1742,3174,1587;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001918.1:c.561C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001001918.1:p.(C187);ESP6500_MAF=43.093,40.0363,48.8082;ESP6500_TAC=6658,6348	GT:AD:DP:GQ:PL	0/1:33,28:61:99:814,0,964
chr1	248349447	rs28377739	G	A	592.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.329;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=1.76;SOR=0.645;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28377739;dbSNPBuildID=125;ANN=A|missense_variant|MODERATE|OR14C36|OR14C36|transcript|NM_001001918.1|protein_coding|1/1|c.673G>A|p.Gly225Arg|673/939|673/939|225/312||;p3_1000G_AA=a|||;p3_1000G_AC=2306;p3_1000G_AF=0.460463;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=19309;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.5239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248512749;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1764,2642;ESP6500_AA_AGE=643.9+/-397.9;ESP6500_AA_GTC=352,1060,791;ESP6500_CDS_SIZES=NM_001001918.1:939;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=161;ESP6500_EA_AC=4894,3706;ESP6500_EA_AGE=530.1+/-381.7;ESP6500_EA_GTC=1390,2114,796;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001918.1:missense;ESP6500_GL=OR14C36;ESP6500_GRCh38_POSITION=1:248349447;ESP6500_GS=125;ESP6500_GTC=1742,3174,1587;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001918.1:c.673G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001001918.1:p.(G225R);ESP6500_MAF=43.093,40.0363,48.8082;ESP6500_PH=benign:0.002;ESP6500_TAC=6658,6348	GT:AD:DP:GQ:PL	0/1:39,25:64:99:621,0,1124
chr1	248349465	rs28545014	G	T	622.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.662;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=4.873;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-0.618;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28545014;dbSNPBuildID=125;ANN=T|missense_variant|MODERATE|OR14C36|OR14C36|transcript|NM_001001918.1|protein_coding|1/1|c.691G>T|p.Asp231Tyr|691/939|691/939|231/312||;p3_1000G_AA=g|||;p3_1000G_AC=2308;p3_1000G_AF=0.460863;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=19287;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.5249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248512767;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1768,2638;ESP6500_AA_AGE=526.2+/-371.8;ESP6500_AA_GTC=354,1060,789;ESP6500_CDS_SIZES=NM_001001918.1:939;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=168;ESP6500_EA_AC=4894,3706;ESP6500_EA_AGE=619.6+/-396.9;ESP6500_EA_GTC=1390,2114,796;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001918.1:missense;ESP6500_GL=OR14C36;ESP6500_GRCh38_POSITION=1:248349465;ESP6500_GS=160;ESP6500_GTC=1744,3174,1585;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001918.1:c.691G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001001918.1:p.(D231Y);ESP6500_MAF=43.093,40.1271,48.7775;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=6662,6344	GT:AD:DP:GQ:PL	0/1:37,28:65:99:651,0,1165
chr1	248349721	rs28607995	G	A	311.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.606;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-0.174;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28607995;dbSNPBuildID=125;ANN=A|downstream_gene_variant|MODIFIER|OR14C36|OR14C36|transcript|NM_001001918.1|protein_coding||c.*8G>A|||||8|,A|intergenic_region|MODIFIER|OR14C36-OR2T4|OR14C36-OR2T4|intergenic_region|OR14C36-OR2T4|||n.248349721G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2308;p3_1000G_AF=0.460863;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=17036;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.5239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248513023;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1611,1927;ESP6500_AA_GTC=396,819,554;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=46;ESP6500_EA_AC=4252,2776;ESP6500_EA_GTC=1320,1612,582;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:248349721;ESP6500_GTC=1716,2431,1136;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=39.4991,45.5342,44.5107;ESP6500_TAC=5863,4703	GT:AD:DP:GQ:PL	0/1:8,12:20:99:340,0,241
chr1	248349786	rs28481429	G	C	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-0.842;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28481429;dbSNPBuildID=125;ANN=C|downstream_gene_variant|MODIFIER|OR14C36|OR14C36|transcript|NM_001001918.1|protein_coding||c.*73G>C|||||73|,C|intergenic_region|MODIFIER|OR14C36-OR2T4|OR14C36-OR2T4|intergenic_region|OR14C36-OR2T4|||n.248349786G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=2307;p3_1000G_AF=0.460663;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=16386;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248513088;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:149,0,104
chr1	248361635	.	ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT	A	2052.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.97;QD=28.91;SOR=1.203;DEL;HOM;VARTYPE=DEL;ANN=A|conservative_inframe_deletion|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.85_168delATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGTTGGGACTCTTCAGACAATCCAAACATCCA|p.Met29_Pro56del|85/1047|85/1047|29/348||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:2090,148,0
chr1	248361751	rs28415565	A	T	3031.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.74;QD=30.57;SOR=1.41;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28415565;dbSNPBuildID=125;ANN=T|synonymous_variant|LOW|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.171A>T|p.Ala57Ala|171/1047|171/1047|57/348||;p3_1000G_AA=a|||;p3_1000G_AC=1473;p3_1000G_AF=0.294129;p3_1000G_AFR_AF=0.2398;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=19856;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525053;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,67:67:99:1|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:3060,205,0
chr1	248361758	rs28491677	T	A	3236.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.68;QD=27.64;SOR=1.512;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28491677;dbSNPBuildID=125;ANN=A|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.178T>A|p.Cys60Ser|178/1047|178/1047|60/348||;p3_1000G_AA=t|||;p3_1000G_AC=1477;p3_1000G_AF=0.294928;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=20455;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.1809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525060;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,70:70:99:1|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:3265,220,0
chr1	248361769	rs28499298	T	C	3500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.79;QD=33.17;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28499298;dbSNPBuildID=125;ANN=C|synonymous_variant|LOW|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.189T>C|p.Ile63Ile|189/1047|189/1047|63/348||;p3_1000G_AA=t|||;p3_1000G_AC=1734;p3_1000G_AF=0.346246;p3_1000G_AFR_AF=0.3926;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=21339;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.1948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525071;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,80:80:99:1|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:3529,242,0
chr1	248361798	rs73146195	G	A	774.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.3;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=18.792;MLEAC=1;MLEAF=0.5;MQ=41.65;MQRankSum=3.31;QD=8.61;ReadPosRankSum=-2.512;SOR=2.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73146195;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.218G>A|p.Gly73Glu|218/1047|218/1047|73/348||	GT:AD:DP:GQ:PGT:PID:PL	0/1:67,23:90:99:0|1:248361798_G_A:803,0,2668
chr1	248361833	rs76721536	G	A	1320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.168;ClippingRankSum=0;DP=138;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=43.22;MQRankSum=2.64;QD=9.57;ReadPosRankSum=2.33;SOR=0.92;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76721536;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.253G>A|p.Ala85Thr|253/1047|253/1047|85/348||;p3_1000G_AA=a|||;p3_1000G_AC=1544;p3_1000G_AF=0.308307;p3_1000G_AFR_AF=0.3374;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=25523;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.2207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525135;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:99,39:138:99:0|1:248361798_G_A:1349,0,4182
chr1	248361836	rs75096121	C	T	1345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.569;ClippingRankSum=0;DP=142;ExcessHet=3.0103;FS=0.689;MLEAC=1;MLEAF=0.5;MQ=43.32;MQRankSum=2.78;QD=9.48;ReadPosRankSum=2.27;SOR=0.795;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75096121;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.256C>T|p.His86Tyr|256/1047|256/1047|86/348||;p3_1000G_AA=c|||;p3_1000G_AC=1540;p3_1000G_AF=0.307508;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=24623;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.2207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525138;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:101,41:142:99:0|1:248361798_G_A:1374,0,4125
chr1	248361844	rs28482938	C	T	2495.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.38;ClippingRankSum=0;DP=140;ExcessHet=3.0103;FS=0.67;MLEAC=1;MLEAF=0.5;MQ=43.53;MQRankSum=-2.538;QD=17.83;ReadPosRankSum=-1.819;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28482938;dbSNPBuildID=125;ANN=T|synonymous_variant|LOW|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.264C>T|p.His88His|264/1047|264/1047|88/348||;ESP6500_AA=C;ESP6500_AA_AC=852,3554;ESP6500_AA_GTC=12,828,1363;ESP6500_CDS_SIZES=NM_001004696.1:1047;ESP6500_CG=-2.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=383;ESP6500_EA_AC=1323,7277;ESP6500_EA_GTC=51,1221,3028;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004696.1:coding-synonymous;ESP6500_GL=OR2T4;ESP6500_GRCh38_POSITION=1:248361844;ESP6500_GTC=63,2049,4391;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004696.1:c.264C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004696.1:p.(H88);ESP6500_MAF=15.3837,19.3373,16.7231;ESP6500_TAC=2175,10831	GT:AD:DP:GQ:PL	0/1:44,96:140:99:2524,0,1499
chr1	248361891	rs28655275	C	T	2593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.18;ClippingRankSum=0;DP=142;ExcessHet=3.0103;FS=2.334;MLEAC=1;MLEAF=0.5;MQ=43.47;MQRankSum=-2.557;QD=18.27;ReadPosRankSum=-0.76;SOR=0.956;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28655275;dbSNPBuildID=125;ANN=T|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.311C>T|p.Ala104Val|311/1047|311/1047|104/348||;ESP6500_AA=T;ESP6500_AA_AC=130,4276;ESP6500_AA_AGE=811.1+/-416.0;ESP6500_AA_GTC=3,124,2076;ESP6500_CDS_SIZES=NM_001004696.1:1047;ESP6500_CG=-3.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=260;ESP6500_EA_AC=1067,7529;ESP6500_EA_AGE=759.6+/-407.6;ESP6500_EA_GTC=51,965,3282;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004696.1:missense;ESP6500_GL=OR2T4;ESP6500_GRCh38_POSITION=1:248361891;ESP6500_GS=64;ESP6500_GTC=54,1089,5358;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004696.1:c.311C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004696.1:p.(A104V);ESP6500_MAF=12.4128,2.9505,9.2063;ESP6500_PH=benign:0.0;ESP6500_TAC=1197,11805	GT:AD:DP:GQ:PL	0/1:44,98:142:99:2622,0,704
chr1	248361983	rs28637620	T	C	3979.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.53;QD=22.81;SOR=1.718;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28637620;dbSNPBuildID=125;ANN=C|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.403T>C|p.Phe135Leu|403/1047|403/1047|135/348||;p3_1000G_AA=t|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.3464;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=20303;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525285;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,89:89:99:1|1:248361983_T_C:4008,271,0
chr1	248361988	rs202028348	C	T	4141.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.72;QD=32.6;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs202028348;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.408C>T|p.Tyr136Tyr|408/1047|408/1047|136/348||;p3_1000G_AA=t|||;p3_1000G_AC=1549;p3_1000G_AF=0.309305;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=19688;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.1899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525290;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,90:90:99:1|1:248361983_T_C:4170,280,0
chr1	248361989	rs28540568	G	C	4099.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.95;QD=33.97;SOR=1.916;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28540568;dbSNPBuildID=125;ANN=C|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.409G>C|p.Val137Leu|409/1047|409/1047|137/348||;p3_1000G_AA=g|||;p3_1000G_AC=1348;p3_1000G_AF=0.269169;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=19545;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.1779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525291;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,90:90:99:1|1:248361983_T_C:4128,277,0
chr1	248362026	rs61248663	C	CTA	5314.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=116;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.97;QD=34.87;SOR=1.51;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61248663;dbSNPBuildID=129;ANN=CTA|frameshift_variant|HIGH|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.446_447insTA|p.Met150fs|447/1047|447/1047|149/348||;LOF=(OR2T4|OR2T4|1|1.00);p3_1000G_AC=1358;p3_1000G_AF=0.271166;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=20870;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.1779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525328;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,116:116:99:1|1:248362026_C_CTA:5352,361,0
chr1	248362028	rs56721857	A	G	5323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=118;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.52;QD=30.6;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56721857;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.448A>G|p.Met150Val|448/1047|448/1047|150/348||;p3_1000G_AA=a|||;p3_1000G_AC=1358;p3_1000G_AF=0.271166;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=19950;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.1779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525330;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,118:118:99:1|1:248362026_C_CTA:5352,361,0
chr1	248362345	rs28405645	C	A	5578.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=125;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.93;QD=30.43;SOR=1.311;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28405645;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.765C>A|p.Leu255Leu|765/1047|765/1047|255/348||;p3_1000G_AA=c|||;p3_1000G_AC=1468;p3_1000G_AF=0.293131;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=22286;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525647;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1061,3345;ESP6500_AA_AGE=385.4+/-325.7;ESP6500_AA_GTC=140,781,1282;ESP6500_CDS_SIZES=NM_001004696.1:1047;ESP6500_CG=-0.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=128;ESP6500_EA_AC=1395,7205;ESP6500_EA_AGE=269.1+/-288.2;ESP6500_EA_GTC=112,1171,3017;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004696.1:coding-synonymous;ESP6500_GL=OR2T4;ESP6500_GRCh38_POSITION=1:248362345;ESP6500_GTC=252,1952,4299;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004696.1:c.765C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004696.1:p.(L255);ESP6500_MAF=16.2209,24.0808,18.8836;ESP6500_TAC=2456,10550	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,125:125:99:1|1:248362345_C_A:5607,376,0
chr1	248362348	rs28602650	C	T	5732.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=124;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.76;QD=36.77;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28602650;dbSNPBuildID=125;ANN=T|synonymous_variant|LOW|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.768C>T|p.Thr256Thr|768/1047|768/1047|256/348||;p3_1000G_AA=t|||;p3_1000G_AC=1473;p3_1000G_AF=0.294129;p3_1000G_AFR_AF=0.2398;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=21451;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525650;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1061,3345;ESP6500_AA_AGE=723.4+/-409.4;ESP6500_AA_GTC=140,781,1282;ESP6500_CDS_SIZES=NM_001004696.1:1047;ESP6500_CG=-0.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=128;ESP6500_EA_AC=1394,7206;ESP6500_EA_AGE=753.1+/-407.4;ESP6500_EA_GTC=112,1170,3018;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004696.1:coding-synonymous;ESP6500_GL=OR2T4;ESP6500_GRCh38_POSITION=1:248362348;ESP6500_GTC=252,1951,4300;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004696.1:c.768C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004696.1:p.(T256);ESP6500_MAF=16.2093,24.0808,18.8759;ESP6500_TAC=2455,10551	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,124:124:99:1|1:248362345_C_A:5761,388,0
chr1	248362355	rs28718027	G	A	5526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=123;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.77;QD=31.13;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28718027;dbSNPBuildID=125;ANN=A|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.775G>A|p.Gly259Arg|775/1047|775/1047|259/348||;p3_1000G_AA=a|||;p3_1000G_AC=1476;p3_1000G_AF=0.294728;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=21255;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525657;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1056,3350;ESP6500_AA_AGE=722.6+/-409.3;ESP6500_AA_GTC=140,776,1287;ESP6500_CDS_SIZES=NM_001004696.1:1047;ESP6500_CG=0.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=127;ESP6500_EA_AC=1386,7214;ESP6500_EA_AGE=752.1+/-407.4;ESP6500_EA_GTC=111,1164,3025;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004696.1:missense;ESP6500_GL=OR2T4;ESP6500_GRCh38_POSITION=1:248362355;ESP6500_GS=125;ESP6500_GTC=251,1940,4312;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001004696.1:c.775G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004696.1:p.(G259R);ESP6500_MAF=16.1163,23.9673,18.7759;ESP6500_PH=benign:0.0;ESP6500_TAC=2442,10564	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,123:123:99:1|1:248362345_C_A:5555,376,0
chr1	248362478	rs28698997	C	T	2670.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.97;QD=32.57;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28698997;dbSNPBuildID=125;ANN=T|missense_variant|MODERATE|OR2T4|OR2T4|transcript|NM_001004696.1|protein_coding|1/1|c.898C>T|p.Pro300Ser|898/1047|898/1047|300/348||;p3_1000G_AA=c|||;p3_1000G_AC=1474;p3_1000G_AF=0.294329;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=20748;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248525780;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1063,3343;ESP6500_AA_AGE=386.5+/-326.1;ESP6500_AA_GTC=140,783,1280;ESP6500_CDS_SIZES=NM_001004696.1:1047;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=142;ESP6500_EA_AC=1400,7200;ESP6500_EA_AGE=271.1+/-289.3;ESP6500_EA_GTC=113,1174,3013;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004696.1:missense;ESP6500_GL=OR2T4;ESP6500_GRCh38_POSITION=1:248362478;ESP6500_GS=74;ESP6500_GTC=253,1957,4293;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004696.1:c.898C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004696.1:p.(P300S);ESP6500_MAF=16.2791,24.1262,18.9374;ESP6500_PH=benign:0.34;ESP6500_TAC=2463,10543	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2699,246,0
chr1	248387593	rs7418152	T	G	847.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7418152;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|OR2T6|OR2T6|transcript|NM_001005471.1|protein_coding||c.-16T>G|||||16|,G|intergenic_region|MODIFIER|OR2T4-OR2T6|OR2T4-OR2T6|intergenic_region|OR2T4-OR2T6|||n.248387593T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=1891;p3_1000G_AF=0.377596;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17208;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248550894;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1998,2408;ESP6500_AA_AGE=607.5+/-391.0;ESP6500_AA_GTC=467,1064,672;ESP6500_CG=4.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=1296,7304;ESP6500_EA_AGE=756.6+/-407.5;ESP6500_EA_GTC=92,1112,3096;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=1:248387593;ESP6500_GTC=559,2176,3768;ESP6500_GTS=GG,GT,TT;ESP6500_MAF=15.0698,45.3473,25.3268;ESP6500_TAC=3294,9712	GT:AD:DP:GQ:PL	1/1:0,24:24:72:876,72,0
chr1	248387669	rs7417616	A	G	2133.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.7;SOR=1.378;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7417616;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|OR2T6|OR2T6|transcript|NM_001005471.1|protein_coding|1/1|c.61A>G|p.Asn21Asp|61/927|61/927|21/308||;p3_1000G_AA=g|||;p3_1000G_AC=1890;p3_1000G_AF=0.377396;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=15093;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248550970;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2003,2403;ESP6500_AA_AGE=615.1+/-392.5;ESP6500_AA_GTC=466,1071,666;ESP6500_CDS_SIZES=NM_001005471.1:927;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=144;ESP6500_EA_AC=1299,7301;ESP6500_EA_AGE=758.8+/-407.5;ESP6500_EA_GTC=92,1115,3093;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005471.1:missense;ESP6500_GL=OR2T6;ESP6500_GRCh38_POSITION=1:248387669;ESP6500_GS=23;ESP6500_GTC=558,2186,3759;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001005471.1:c.61A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001005471.1:p.(N21D);ESP6500_MAF=15.1047,45.4607,25.3883;ESP6500_PH=benign:0.0;ESP6500_TAC=3302,9704	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,47:47:99:1|1:248387669_A_G:2162,147,0
chr1	248387675	rs6587467	T	G	2071.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6587467;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|OR2T6|OR2T6|transcript|NM_001005471.1|protein_coding|1/1|c.67T>G|p.Cys23Gly|67/927|67/927|23/308||;p3_1000G_AA=g|||;p3_1000G_AC=3870;p3_1000G_AF=0.772764;p3_1000G_AFR_AF=0.8684;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=14943;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.66;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248550976;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3743,663;ESP6500_AA_AGE=281.6+/-276.1;ESP6500_AA_GTC=1595,553,55;ESP6500_CDS_SIZES=NM_001005471.1:927;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=152;ESP6500_EA_AC=6026,2574;ESP6500_EA_AGE=419.8+/-353.2;ESP6500_EA_GTC=2115,1796,389;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005471.1:missense;ESP6500_GL=OR2T6;ESP6500_GRCh38_POSITION=1:248387675;ESP6500_GS=159;ESP6500_GTC=3710,2349,444;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005471.1:c.67T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001005471.1:p.(C23G);ESP6500_MAF=29.9302,15.0477,24.8885;ESP6500_PH=benign:0.0;ESP6500_TAC=9769,3237	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:248387669_A_G:2100,141,0
chr1	248387902	rs6700947	T	C	2166.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6700947;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|OR2T6|OR2T6|transcript|NM_001005471.1|protein_coding|1/1|c.294T>C|p.Thr98Thr|294/927|294/927|98/308||;p3_1000G_AA=t|||;p3_1000G_AC=1850;p3_1000G_AF=0.369409;p3_1000G_AFR_AF=0.4962;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=19053;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248551203;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1893,2513;ESP6500_AA_AGE=538.7+/-375.1;ESP6500_AA_GTC=423,1047,733;ESP6500_CDS_SIZES=NM_001005471.1:927;ESP6500_CG=-7.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=121;ESP6500_EA_AC=1297,7303;ESP6500_EA_AGE=256.5+/-280.9;ESP6500_EA_GTC=92,1113,3095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005471.1:coding-synonymous;ESP6500_GL=OR2T6;ESP6500_GRCh38_POSITION=1:248387902;ESP6500_GTC=515,2160,3828;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005471.1:c.294T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005471.1:p.(T98);ESP6500_MAF=15.0814,42.9641,24.5271;ESP6500_TAC=3190,9816	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2195,192,0
chr1	248388259	rs954474	C	T	3464.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=107;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=0.896;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs954474;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|OR2T6|OR2T6|transcript|NM_001005471.1|protein_coding|1/1|c.651C>T|p.Ser217Ser|651/927|651/927|217/308||;p3_1000G_AA=c|||;p3_1000G_AC=1471;p3_1000G_AF=0.29373;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=22601;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248551560;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=988,3418;ESP6500_AA_AGE=369.1+/-318.9;ESP6500_AA_GTC=120,748,1335;ESP6500_CDS_SIZES=NM_001005471.1:927;ESP6500_CG=3.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=249;ESP6500_EA_AC=1286,7314;ESP6500_EA_AGE=255.4+/-280.3;ESP6500_EA_GTC=90,1106,3104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005471.1:coding-synonymous;ESP6500_GL=OR2T6;ESP6500_GRCh38_POSITION=1:248388259;ESP6500_GTC=210,1854,4439;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001005471.1:c.651C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005471.1:p.(S217);ESP6500_MAF=14.9535,22.424,17.4842;ESP6500_TAC=2274,10732	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3493,317,0
chr1	248388335	rs954475	T	G	2965.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=1.165;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs954475;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|OR2T6|OR2T6|transcript|NM_001005471.1|protein_coding|1/1|c.727T>G|p.Ser243Ala|727/927|727/927|243/308||;p3_1000G_AA=t|||;p3_1000G_AC=1851;p3_1000G_AF=0.369609;p3_1000G_AFR_AF=0.4962;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=22655;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248551636;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1921,2485;ESP6500_AA_AGE=548.5+/-377.6;ESP6500_AA_GTC=423,1075,705;ESP6500_CDS_SIZES=NM_001005471.1:927;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=234;ESP6500_EA_AC=1297,7303;ESP6500_EA_AGE=256.6+/-281.0;ESP6500_EA_GTC=92,1113,3095;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001005471.1:missense;ESP6500_GL=OR2T6;ESP6500_GRCh38_POSITION=1:248388335;ESP6500_GS=99;ESP6500_GTC=515,2188,3800;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005471.1:c.727T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001005471.1:p.(S243A);ESP6500_MAF=15.0814,43.5996,24.7424;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=3218,9788	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2994,255,0
chr1	248407139	rs6695780	G	A	2105.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.96;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6695780;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|OR2T1|OR2T1|transcript|NM_030904.1|protein_coding||c.*35G>A|||||35|,A|intergenic_region|MODIFIER|OR2T1-OR2T2|OR2T1-OR2T2|intergenic_region|OR2T1-OR2T2|||n.248407139G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=4277;p3_1000G_AF=0.854034;p3_1000G_AFR_AF=0.879;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=21528;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.7783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248570440;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3892,514;ESP6500_AA_AGE=229.1+/-243.8;ESP6500_AA_GTC=1710,472,21;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=6943,1657;ESP6500_EA_AGE=303.0+/-306.2;ESP6500_EA_GTC=2801,1341,158;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:248407139;ESP6500_GTC=4511,1813,179;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=19.2674,11.6659,16.6923;ESP6500_TAC=10835,2171	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2134,186,0
chr1	248441164	rs1770074	C	T	645.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.63;QD=30.75;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76925977;dbSNPBuildID=89;ANN=T|intergenic_region|MODIFIER|OR2T1-OR2T2|OR2T1-OR2T2|intergenic_region|OR2T1-OR2T2|||n.248441164C>T||||||	GT:AD:DP:GQ:PL	1/1:0,21:21:63:674,63,0
chr1	248441241	rs1416992	C	T	668.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.642;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.62;MQRankSum=1.66;QD=27.87;ReadPosRankSum=-0.724;SOR=0.446;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61834485;dbSNPBuildID=144;ANN=T|intergenic_region|MODIFIER|OR2T1-OR2T2|OR2T1-OR2T2|intergenic_region|OR2T1-OR2T2|||n.248441241C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3367;p3_1000G_AF=0.672324;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs61834485;p3_1000G_DP=7639;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.5447;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248604542;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6656;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,23:24:40:697,40,0
chr1	248441258	rs150497047;rs58223479	T	TTC	175.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.13;MQRankSum=-4.376;QD=6.76;ReadPosRankSum=-1.969;SOR=0.495;INS;HET;VARTYPE=INS;dbSNP138_ID=rs150497047;dbSNPBuildID=134,137;ANN=TTC|intergenic_region|MODIFIER|OR2T1-OR2T2|OR2T1-OR2T2|intergenic_region|OR2T1-OR2T2|||n.248441258_248441259insTC||||||;p3_1000G_AC=2957;p3_1000G_AF=0.590455;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=5805;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.5865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248604559;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:19,7:26:99:213,0,767
chr1	248441313	rs61834486	A	T	1293.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.38;QD=30.8;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201226597;dbSNPBuildID=129;ANN=T|intergenic_region|MODIFIER|OR2T1-OR2T2|OR2T1-OR2T2|intergenic_region|OR2T1-OR2T2|||n.248441313A>T||||||	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1322,126,0
chr1	248441464	rs61834487	T	A	2990.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.86;QD=31.48;SOR=1.561;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs144165631;dbSNPBuildID=129;ANN=A|intergenic_region|MODIFIER|OR2T1-OR2T2|OR2T1-OR2T2|intergenic_region|OR2T1-OR2T2|||n.248441464T>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.6641;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs144165631;p3_1000G_DP=26674;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.5974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248604765;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3019,285,0
chr1	248442073	rs1339993	G	A	704.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=7.108;MLEAC=1;MLEAF=0.5;MQ=49.66;MQRankSum=-6.764;QD=9.79;ReadPosRankSum=-0.878;SOR=1.698;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1339993;dbSNPBuildID=88;ANN=A|intergenic_region|MODIFIER|OR2T1-OR2T2|OR2T1-OR2T2|intergenic_region|OR2T1-OR2T2|||n.248442073G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=176;p3_1000G_AF=0.0351438;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=22083;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248605374;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:44,28:72:99:733,0,1136
chr1	248442094	rs28631666	T	G	2176.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.3;QD=32.98;SOR=1.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28631666;dbSNPBuildID=125;ANN=G|intergenic_region|MODIFIER|OR2T1-OR2T2|OR2T1-OR2T2|intergenic_region|OR2T1-OR2T2|||n.248442094T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1515;p3_1000G_AF=0.302516;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=21491;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.168;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248605395;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2205,198,0
chr1	248453100	rs77680148	G	A	2113.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.683;ClippingRankSum=0;DP=209;ExcessHet=3.0103;FS=2.71;MLEAC=1;MLEAF=0.5;MQ=50.81;MQRankSum=-12.63;QD=10.21;ReadPosRankSum=2.56;SOR=0.921;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77680148;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding|1/1|c.303G>A|p.Gln101Gln|303/975|303/975|101/324||	GT:AD:DP:GQ:PGT:PID:PL	0/1:145,62:207:99:0|1:248453100_G_A:2142,0,8232
chr1	248453107	rs67700848	C	T	2116.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.139;ClippingRankSum=0;DP=206;ExcessHet=3.0103;FS=3.559;MLEAC=1;MLEAF=0.5;MQ=50.83;MQRankSum=-12.58;QD=10.38;ReadPosRankSum=2.32;SOR=0.964;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73147579;dbSNPBuildID=130;ANN=T|missense_variant|MODERATE|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding|1/1|c.310C>T|p.Leu104Phe|310/975|310/975|104/324||	GT:AD:DP:GQ:PGT:PID:PL	0/1:142,62:204:99:0|1:248453100_G_A:2145,0,8195
chr1	248453403	rs199823862	CTGCTGCG	C	76.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=15.441;MLEAC=1;MLEAF=0.5;MQ=32.4;MQRankSum=2.19;QD=10.96;ReadPosRankSum=1.37;SOR=2.775;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs199823862;dbSNPBuildID=137;ANN=C|frameshift_variant|HIGH|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding|1/1|c.612_618delCGTGCTG|p.Cys204fs|612/975|612/975|204/324||INFO_REALIGN_3_PRIME;LOF=(OR2T2|OR2T2|1|1.00);ESP6500_AA_AC=51,3755;ESP6500_AA_GTC=2,47,1854;ESP6500_CDS_SIZES=NM_001004136.1:975;ESP6500_CG=-2.5;ESP6500_CP=0.6;ESP6500_DP=76;ESP6500_EA_AC=261,7371;ESP6500_EA_GTC=12,237,3567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004136.1:frameshift;ESP6500_GL=OR2T2;ESP6500_GRCh38_POSITION=1:248453403;ESP6500_GTC=14,284,5421;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001004136.1:c.607_613del7;ESP6500_HGVS_PROTEIN_VAR=NM_001004136.1:p.(C204*fs*1);ESP6500_MAF=3.4198,1.34,2.7277;ESP6500_TAC=312,11126	GT:AD:DP:GQ:PL	0/1:4,3:7:99:114,0,159
chr1	248453448	rs151176830	C	G	267.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.28;QD=29.75;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs151176830;dbSNPBuildID=134;ANN=G|synonymous_variant|LOW|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding|1/1|c.651C>G|p.Val217Val|651/975|651/975|217/324||	GT:AD:DP:GQ:PL	1/1:0,9:9:27:296,27,0
chr1	248453463	rs77869864	C	T	146.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=8.451;MLEAC=1;MLEAF=0.5;MQ=31.09;MQRankSum=-0.792;QD=20.97;ReadPosRankSum=0;SOR=3.897;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376553658;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding|1/1|c.666C>T|p.Ile222Ile|666/975|666/975|222/324||	GT:AD:DP:GQ:PL	0/1:1,6:7:22:175,0,22
chr1	248453582	rs143551105	T	A	88.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.331;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=38.8;MQRankSum=-0.422;QD=4.44;ReadPosRankSum=-1.616;SOR=0.024;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143551105;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding|1/1|c.785T>A|p.Leu262Gln|785/975|785/975|262/324||	GT:AD:DP:GQ:PL	0/1:15,5:20:99:117,0,531
chr1	248453794	rs78674169	A	C	39.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.64;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=9.765;MLEAC=1;MLEAF=0.5;MQ=51.6;MQRankSum=-2.171;QD=0.42;ReadPosRankSum=-1.648;SOR=1.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78674169;dbSNPBuildID=131;ANN=C|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*22A>C|||||22|,C|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453794A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:88,7:95:68:0|1:248453768_G_A:68,0,3713
chr1	248453804	rs79923326	G	A	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.441;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=11.707;MLEAC=1;MLEAF=0.5;MQ=51.09;MQRankSum=-1.557;QD=2.27;ReadPosRankSum=-1.122;SOR=1.198;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79923326;dbSNPBuildID=131;ANN=A|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*32G>A|||||32|,A|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453804G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:76,9:85:99:0|1:248453768_G_A:221,0,3326
chr1	248453810	rs761865811	G	A	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.527;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=8.593;MLEAC=1;MLEAF=0.5;MQ=51.38;MQRankSum=-0.569;QD=4.32;ReadPosRankSum=-1.47;SOR=0.395;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*38G>A|||||38|,A|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453810G>A||||||	GT:AD:DP:GQ:PL	0/1:67,13:80:99:374,0,2890
chr1	248453818	rs770065305	T	C	414.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.222;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=4.42;MLEAC=1;MLEAF=0.5;MQ=51.53;MQRankSum=-0.607;QD=5.39;ReadPosRankSum=-1.004;SOR=0.232;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*46T>C|||||46|,C|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453818T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:62,15:77:99:0|1:248453768_G_A:443,0,2558
chr1	248453822	rs199745092	C	T	501.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.128;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=8.63;MLEAC=1;MLEAF=0.5;MQ=51.75;MQRankSum=-0.5;QD=6.97;ReadPosRankSum=-1.009;SOR=0.159;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199745092;dbSNPBuildID=137;ANN=T|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*50C>T|||||50|,T|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453822C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:56,16:72:99:0|1:248453768_G_A:530,0,2510
chr1	248453832	rs78191942	C	T	747.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.936;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=5.908;MLEAC=1;MLEAF=0.5;MQ=51.09;MQRankSum=0.47;QD=11.33;ReadPosRankSum=-0.733;SOR=0.218;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78191942;dbSNPBuildID=131;ANN=T|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*60C>T|||||60|,T|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453832C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:46,20:66:99:0|1:248453768_G_A:776,0,1991
chr1	248453841	rs371574584	AG	A	750.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.698;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.946;MLEAC=1;MLEAF=0.5;MQ=50.86;MQRankSum=1.04;QD=11.73;ReadPosRankSum=1.05;SOR=0.296;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs371574584;dbSNPBuildID=138;ANN=A|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*70delG|||||70|,A|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453842delG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:42,22:64:99:0|1:248453768_G_A:788,0,1823
chr1	248453849	rs773951951	T	C	825.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.237;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=5.947;MLEAC=1;MLEAF=0.5;MQ=49.73;MQRankSum=1.6;QD=14.75;ReadPosRankSum=1.67;SOR=0.239;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*77T>C|||||77|,C|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453849T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,23:56:99:0|1:248453768_G_A:854,0,1484
chr1	248453852	rs140089153	C	CTG	879.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.196;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=6.52;MLEAC=1;MLEAF=0.5;MQ=49.3;MQRankSum=1.62;QD=16.29;ReadPosRankSum=1.75;SOR=0.183;INS;HET;VARTYPE=INS;dbSNP138_ID=rs140089153;dbSNPBuildID=134;ANN=CTG|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*80_*81insTG|||||81|,CTG|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453852_248453853insTG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,24:54:99:0|1:248453768_G_A:917,0,1187
chr1	248453872	rs78428672	A	G	549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.39;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=25.649;MLEAC=1;MLEAF=0.5;MQ=47.25;MQRankSum=-3.609;QD=13.09;ReadPosRankSum=-2.667;SOR=5.097;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78428672;dbSNPBuildID=131;ANN=G|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*100A>G|||||100|,G|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453872A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,16:42:99:0|1:248453872_A_G:578,0,1072
chr1	248453880	rs556864149	C	T	478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.296;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=21.464;MLEAC=1;MLEAF=0.5;MQ=47.12;MQRankSum=-3.241;QD=11.68;ReadPosRankSum=-2.898;SOR=4.728;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|downstream_gene_variant|MODIFIER|OR2T2|OR2T2|transcript|NM_001004136.1|protein_coding||c.*108C>T|||||108|,T|intergenic_region|MODIFIER|OR2T2-OR2T3|OR2T2-OR2T3|intergenic_region|OR2T2-OR2T3|||n.248453880C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=348;p3_1000G_AF=0.0694888;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=19995;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248617181;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,14:41:99:0|1:248453872_A_G:507,0,1078
chr1	248473745	rs148025314	G	A	3184.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.875;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=4.851;MLEAC=2;MLEAF=1;MQ=35.98;MQRankSum=0.764;QD=28.95;ReadPosRankSum=-0.501;SOR=1.524;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs148025314;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.395G>A|p.Cys132Tyr|395/957|395/957|132/318||	GT:AD:DP:GQ:PL	1/1:1,109:110:99:3213,299,0
chr1	248473814	rs79056151	T	C	1329.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=3.29;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=9.436;MLEAC=2;MLEAF=1;MQ=29.48;MQRankSum=1.06;QD=25.57;ReadPosRankSum=3.14;SOR=2.31;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs139558207;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.464T>C|p.Val155Ala|464/957|464/957|155/318||	GT:AD:DP:GQ:PL	1/1:5,47:52:24:1358,24,0
chr1	248473961	rs1770110	T	C	67.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27.44;QD=22.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1770110;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.611T>C|p.Met204Thr|611/957|611/957|204/318||;p3_1000G_AA=.|||;p3_1000G_AC=477;p3_1000G_AF=0.0952476;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=16815;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.0378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248637262;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=60,4090;ESP6500_AA_GTC=2,56,2017;ESP6500_CDS_SIZES=NM_001005495.1:957;ESP6500_CG=1.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=185;ESP6500_EA_AC=72,8290;ESP6500_EA_GTC=2,68,4111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005495.1:missense;ESP6500_GL=OR2T3;ESP6500_GRCh38_POSITION=1:248473961;ESP6500_GS=81;ESP6500_GTC=4,124,6128;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005495.1:c.611T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005495.1:p.(M204T);ESP6500_MAF=0.861,1.4458,1.055;ESP6500_PH=probably-damaging:0.996;ESP6500_TAC=132,12380	GT:AD:DP:GQ:PL	1/1:0,3:3:9:95,9,0
chr1	248473990	rs1770109	G	A	541.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.44;QD=31.87;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1770109;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.640G>A|p.Ala214Thr|640/957|640/957|214/318||;p3_1000G_AA=.|||;p3_1000G_AC=954;p3_1000G_AF=0.190495;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=17132;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248637291;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:570,51,0
chr1	248474061	rs77686526	C	T	2413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.896;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=24.982;MLEAC=1;MLEAF=0.5;MQ=47.99;MQRankSum=6.25;QD=22.56;ReadPosRankSum=2.08;SOR=0.013;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77686526;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.711C>T|p.Ala237Ala|711/957|711/957|237/318||;p3_1000G_AA=.|||;p3_1000G_AC=1915;p3_1000G_AF=0.382388;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=22676;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.2604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248637362;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,84:107:99:2442,0,797
chr1	248474066	rs1770108	A	G	989.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.65;ClippingRankSum=0;DP=120;ExcessHet=3.0103;FS=23.87;MLEAC=1;MLEAF=0.5;MQ=47.48;MQRankSum=-6.731;QD=8.25;ReadPosRankSum=-2.511;SOR=3.589;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1770108;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.716A>G|p.His239Arg|716/957|716/957|239/318||	GT:AD:DP:GQ:PGT:PID:PL	0/1:91,29:120:99:0|1:248474066_A_G:1018,0,3803
chr1	248474080	rs139789199	G	A	1364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.122;ClippingRankSum=0;DP=151;ExcessHet=3.0103;FS=22.131;MLEAC=1;MLEAF=0.5;MQ=46.95;MQRankSum=-6.161;QD=9.04;ReadPosRankSum=-3.001;SOR=2.603;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139789199;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.730G>A|p.Ala244Thr|730/957|730/957|244/318||;ESP6500_AA=G;ESP6500_AA_AC=108,4298;ESP6500_AA_AGE=63.5+/-100.7;ESP6500_AA_GTC=4,100,2099;ESP6500_CDS_SIZES=NM_001005495.1:957;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=179;ESP6500_EA_AC=4,8596;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,4,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005495.1:missense;ESP6500_GL=OR2T3;ESP6500_GRCh38_POSITION=1:248474080;ESP6500_GS=58;ESP6500_GTC=4,104,6395;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001005495.1:c.730G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001005495.1:p.(A244T);ESP6500_MAF=0.0465,2.4512,0.8611;ESP6500_PH=benign:0.247;ESP6500_TAC=112,12894	GT:AD:DP:GQ:PGT:PID:PL	0/1:106,45:151:99:0|1:248474066_A_G:1393,0,4165
chr1	248474115	rs5014951	G	C	5397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.02;ClippingRankSum=0;DP=215;ExcessHet=3.0103;FS=15.249;MLEAC=1;MLEAF=0.5;MQ=45.91;MQRankSum=5.45;QD=25.11;ReadPosRankSum=1.31;SOR=0.222;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75924848;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.765G>C|p.Leu255Leu|765/957|765/957|255/318||;p3_1000G_AA=.|||;p3_1000G_AC=1453;p3_1000G_AF=0.290136;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs75924848;p3_1000G_DP=31570;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.2097;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248637416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:79,136:215:99:0|1:248474115_G_C:5426,0,2961
chr1	248474116	rs5014952	C	T	5397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.699;ClippingRankSum=0;DP=216;ExcessHet=3.0103;FS=14.884;MLEAC=1;MLEAF=0.5;MQ=45.92;MQRankSum=5.55;QD=24.99;ReadPosRankSum=1.98;SOR=0.234;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74711605;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.766C>T|p.Leu256Phe|766/957|766/957|256/318||;p3_1000G_AA=.|||;p3_1000G_AC=1453;p3_1000G_AF=0.290136;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs74711605;p3_1000G_DP=31032;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.2097;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248637417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:81,135:216:99:0|1:248474115_G_C:5426,0,2961
chr1	248474242	rs74984555;rs139993642	C	T	2940.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.689;ClippingRankSum=0;DP=264;ExcessHet=3.0103;FS=4.184;MLEAC=1;MLEAF=0.5;MQ=42.26;MQRankSum=-3.686;QD=11.22;ReadPosRankSum=1.32;SOR=0.953;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139993642;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding|1/1|c.892C>T|p.Arg298Cys|892/957|892/957|298/318||;ESP6500_AA=C;ESP6500_AA_AC=537,3867;ESP6500_AA_GTC=11,515,1676;ESP6500_CDS_SIZES=NM_001005495.1:957;ESP6500_CG=-0.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=125;ESP6500_EA_AC=673,7913;ESP6500_EA_GTC=0,673,3620;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005495.1:missense;ESP6500_GL=OR2T3;ESP6500_GRCh38_POSITION=1:248474242;ESP6500_GS=180;ESP6500_GTC=11,1188,5296;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001005495.1:c.892C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005495.1:p.(R298C);ESP6500_MAF=7.8383,12.1935,9.3149;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=1210,11780	GT:AD:DP:GQ:PL	0/1:135,127:262:99:2969,0,3207
chr1	248474384	rs28515576	T	C	609.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.78;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37.6;MQRankSum=-0.406;QD=10.89;ReadPosRankSum=0.454;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201431222;dbSNPBuildID=125;ANN=C|downstream_gene_variant|MODIFIER|OR2T3|OR2T3|transcript|NM_001005495.1|protein_coding||c.*77T>C|||||77|,C|intergenic_region|MODIFIER|OR2T3-OR2T5|OR2T3-OR2T5|intergenic_region|OR2T3-OR2T5|||n.248474384T>C||||||	GT:AD:DP:GQ:PL	0/1:32,24:56:99:638,0,892
chr1	248488566	rs35071334	C	A	782.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-2.492;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.57;MQRankSum=0.44;QD=25.25;ReadPosRankSum=2.34;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78067919;dbSNPBuildID=126;ANN=A|upstream_gene_variant|MODIFIER|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding||c.-23C>A|||||23|,A|intergenic_region|MODIFIER|OR2T3-OR2T5|OR2T3-OR2T5|intergenic_region|OR2T3-OR2T5|||n.248488566C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1022;p3_1000G_AF=0.204073;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=12972;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.0835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248651867;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:2,29:31:30:811,30,0
chr1	248488604	rs199833498	A	T	37.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.43;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=8.321;MLEAC=1;MLEAF=0.5;MQ=28.59;MQRankSum=-0.168;QD=1.22;ReadPosRankSum=0.054;SOR=2.777;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199833498;dbSNPBuildID=137;ANN=T|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.16A>T|p.Arg6Trp|16/948|16/948|6/315||;ESP6500_AA=G;ESP6500_AA_AC=2483,1837;ESP6500_AA_GTC=735,1013,412;ESP6500_CDS_SIZES=NM_001004697.1:948;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=15;ESP6500_EA_AC=830,7564;ESP6500_EA_GTC=23,784,3390;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004697.1:missense;ESP6500_GL=OR2T5;ESP6500_GRCh38_POSITION=1:248488604;ESP6500_GS=101;ESP6500_GTC=758,1797,3802;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004697.1:c.16A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004697.1:p.(R6W);ESP6500_MAF=9.888,42.5231,26.0579;ESP6500_PH=benign:0.0;ESP6500_TAC=3313,9401	GT:AD:DP:GQ:PL	0/1:26,5:31:66:66,0,690
chr1	248488626	rs1770043;403273	A	G	906.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=26.86;QD=32.38;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201060805;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.38A>G|p.Lys13Arg|38/948|38/948|13/315||;p3_1000G_AA=.|||;p3_1000G_AC=4590;p3_1000G_AF=0.916534;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=13907;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.7614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248651927;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;CLINVAR_ALLELEID=389409;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000001.11:g.248488626A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=OR2T5:401993;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1770043	GT:AD:DP:GQ:PL	1/1:0,28:28:84:935,84,0
chr1	248488658	rs76332972	C	T	418.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.032;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=4.433;MLEAC=1;MLEAF=0.5;MQ=31.86;MQRankSum=0.6;QD=4.45;ReadPosRankSum=0.748;SOR=1.225;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76332972;dbSNPBuildID=131;ANN=T|stop_gained|HIGH|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.70C>T|p.Arg24*|70/948|70/948|24/315||	GT:AD:DP:GQ:PL	0/1:67,27:94:99:447,0,1636
chr1	248488710	rs150528589	A	T	879.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.169;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=5.994;MLEAC=1;MLEAF=0.5;MQ=32.08;MQRankSum=0.198;QD=9.89;ReadPosRankSum=1.26;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150528589;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.122A>T|p.Lys41Met|122/948|122/948|41/315||;p3_1000G_AA=.|||;p3_1000G_AC=1961;p3_1000G_AF=0.391573;p3_1000G_AFR_AF=0.7307;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=28057;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.1889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248652011;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2044,2150;ESP6500_AA_GTC=554,936,607;ESP6500_CDS_SIZES=NM_001004697.1:948;ESP6500_CG=1.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=96;ESP6500_EA_AC=674,7914;ESP6500_EA_GTC=4,666,3624;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004697.1:missense;ESP6500_GL=OR2T5;ESP6500_GRCh38_POSITION=1:248488710;ESP6500_GS=95;ESP6500_GTC=558,1602,4231;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004697.1:c.122A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004697.1:p.(K41M);ESP6500_MAF=7.8482,48.7363,21.2643;ESP6500_PH=benign:0.0;ESP6500_TAC=2718,10064	GT:AD:DP:GQ:PGT:PID:PL	0/1:62,27:89:99:0|1:248488710_A_T:908,0,2469
chr1	248488722	rs139516854	G	A	839.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.455;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=1.97;MLEAC=1;MLEAF=0.5;MQ=32.3;MQRankSum=0.269;QD=9.88;ReadPosRankSum=-0.239;SOR=0.893;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139516854;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.134G>A|p.Gly45Glu|134/948|134/948|45/315||	GT:AD:DP:GQ:PGT:PID:PL	0/1:60,25:85:99:0|1:248488710_A_T:868,0,2445
chr1	248488757	rs199730299	G	A	792.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.131;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=4.661;MLEAC=1;MLEAF=0.5;MQ=31.68;MQRankSum=0.676;QD=9.22;ReadPosRankSum=-0.742;SOR=0.638;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199730299;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.169G>A|p.Ala57Thr|169/948|169/948|57/315||;p3_1000G_AA=.|||;p3_1000G_AC=1059;p3_1000G_AF=0.211462;p3_1000G_AFR_AF=0.3427;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=21808;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248652058;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:62,24:86:99:0|1:248488757_G_A:821,0,2518
chr1	248488760	rs200544370	C	T	792.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.277;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=4.591;MLEAC=1;MLEAF=0.5;MQ=31.74;MQRankSum=0.646;QD=9.33;ReadPosRankSum=-1.041;SOR=0.654;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200544370;dbSNPBuildID=137;ANN=T|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.172C>T|p.His58Tyr|172/948|172/948|58/315||;p3_1000G_AA=.|||;p3_1000G_AC=1059;p3_1000G_AF=0.211462;p3_1000G_AFR_AF=0.3427;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=20466;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248652061;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:61,24:85:99:0|1:248488757_G_A:821,0,2511
chr1	248488770	rs199723306	G	C	789.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.389;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=4.748;MLEAC=1;MLEAF=0.5;MQ=31.74;MQRankSum=0.646;QD=9.29;ReadPosRankSum=-2.057;SOR=0.618;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199723306;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.182G>C|p.Ser61Thr|182/948|182/948|61/315||;p3_1000G_AA=.|||;p3_1000G_AC=1934;p3_1000G_AF=0.386182;p3_1000G_AFR_AF=0.7141;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=20756;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.1789;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248652071;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:61,24:85:99:0|1:248488757_G_A:818,0,2533
chr1	248488874	rs9435942	G	A	64.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.349;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=2.94;ReadPosRankSum=1.39;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199519459;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.286G>A|p.Val96Ile|286/948|286/948|96/315||	GT:AD:DP:GQ:PL	0/1:17,5:22:93:93,0,472
chr1	248489049	rs200959275	T	C	26.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200959275;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|OR2T5|OR2T5|transcript|NM_001004697.1|protein_coding|1/1|c.461T>C|p.Phe154Ser|461/948|461/948|154/315||	GT:AD:DP:GQ:PL	0/1:1,2:3:23:55,0,23
chr1	248521952	rs9727474	T	C	2710.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9727474;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|OR2G6|OR2G6|transcript|NM_001013355.1|protein_coding|1/1|c.306T>C|p.Tyr102Tyr|306/951|306/951|102/316||;p3_1000G_AA=.|||;p3_1000G_AC=4767;p3_1000G_AF=0.951877;p3_1000G_AFR_AF=0.823;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19387;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248685253;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3750,656;ESP6500_AA_GTC=1602,546,55;ESP6500_CDS_SIZES=NM_001013355.1:951;ESP6500_CG=1.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=108;ESP6500_EA_AC=8594,6;ESP6500_EA_GTC=4294,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001013355.1:coding-synonymous;ESP6500_GL=OR2G6;ESP6500_GRCh38_POSITION=1:248521952;ESP6500_GTC=5896,552,55;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001013355.1:c.306T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001013355.1:p.(Y102);ESP6500_MAF=0.0698,14.8888,5.09;ESP6500_TAC=12344,662	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2739,246,0
chr1	248559127	rs546109722	A	ACG	376.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.408;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.3;MQRankSum=-0.551;QD=34.25;ReadPosRankSum=-1.581;SOR=3.442;INS;HET;VARTYPE=INS;dbSNPBuildID=142;ANN=ACG|frameshift_variant|HIGH|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.364_365insCG|p.Met122fs|364/948|364/948|122/315||;LOF=(OR2T29|OR2T29|1|1.00);ESP6500_AA_AC=12,348;ESP6500_AA_GTC=6,0,174;ESP6500_CDS_SIZES=NM_001004694.2:948;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DP=1;ESP6500_EA_AC=52,386;ESP6500_EA_GTC=25,2,192;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004694.2:frameshift;ESP6500_GL=OR2T29;ESP6500_GRCh38_POSITION=1:248559127;ESP6500_GTC=31,2,366;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001004694.2:c.364_365insCG;ESP6500_HGVS_PROTEIN_VAR=NM_001004694.2:p.(M122Tfs*20);ESP6500_MAF=11.8721,3.3333,8.0201;ESP6500_TAC=64,734	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,10:11:51:0|1:248559127_A_ACG:414,0,51
chr1	248559129	rs752543723	G	A	385.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.428;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.33;MQRankSum=-1.444;QD=32.15;ReadPosRankSum=0;SOR=2.67;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|synonymous_variant|LOW|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.363C>T|p.Thr121Thr|363/948|363/948|121/315||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,10:12:51:0|1:248559127_A_ACG:414,0,51
chr1	248559150	rs376895464	C	T	402.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.553;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.21;MQRankSum=-1.747;QD=23.69;ReadPosRankSum=0.149;SOR=3.383;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376895464;dbSNPBuildID=138;ANN=T|synonymous_variant|LOW|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.342G>A|p.Ser114Ser|342/948|342/948|114/315||	GT:AD:DP:GQ:PL	0/1:2,15:17:21:431,0,21
chr1	248559206	rs199706827	C	T	786.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.22;QD=31.47;SOR=6.518;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs199706827;dbSNPBuildID=137;ANN=T|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.286G>A|p.Val96Ile|286/948|286/948|96/315||	GT:AD:DP:GQ:PL	1/1:0,25:25:75:815,75,0
chr1	248559265	rs200777722	G	A	361.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.243;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.98;MQRankSum=-0.035;QD=16.44;ReadPosRankSum=0.495;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200777722;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.227C>T|p.Ala76Val|227/948|227/948|76/315||	GT:AD:DP:GQ:PL	0/1:8,14:22:99:390,0,187
chr1	248559310	rs9439336	C	G	1231.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.08;QD=27.51;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200169450;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.182G>C|p.Ser61Thr|182/948|182/948|61/315||;p3_1000G_AA=.|||;p3_1000G_AC=2314;p3_1000G_AF=0.462061;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200169450;p3_1000G_DP=23071;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.3171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248722611;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1260,84,0
chr1	248559312	rs199532952	G	A	823.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.969;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=16.32;MLEAC=1;MLEAF=0.5;MQ=31.08;MQRankSum=0.766;QD=29.42;ReadPosRankSum=-2.229;SOR=0.187;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199532952;dbSNPBuildID=137;ANN=A|synonymous_variant|LOW|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.180C>T|p.His60His|180/948|180/948|60/315||	GT:AD:DP:GQ:PL	0/1:7,21:28:99:852,0,231
chr1	248559320	rs9439337	G	A	229.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.647;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=25.722;MLEAC=1;MLEAF=0.5;MQ=30.36;MQRankSum=-0.379;QD=6.76;ReadPosRankSum=1.12;SOR=4.398;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201345491;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.172C>T|p.His58Tyr|172/948|172/948|58/315||;p3_1000G_AA=.|||;p3_1000G_AC=1382;p3_1000G_AF=0.275958;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs201345491;p3_1000G_DP=23197;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.2217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248722621;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,8:34:99:0|1:248559320_G_A:258,0,1068
chr1	248559323	rs9439352	C	T	229.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.665;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=25.722;MLEAC=1;MLEAF=0.5;MQ=30.36;MQRankSum=-0.379;QD=6.76;ReadPosRankSum=0.833;SOR=4.398;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200919674;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.169G>A|p.Ala57Thr|169/948|169/948|57/315||;p3_1000G_AA=.|||;p3_1000G_AC=1468;p3_1000G_AF=0.293131;p3_1000G_AFR_AF=0.3578;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200919674;p3_1000G_DP=22185;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.2217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248722624;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,8:34:99:0|1:248559320_G_A:258,0,1068
chr1	248559358	rs2105243	C	T	119.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.918;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=33.453;MLEAC=1;MLEAF=0.5;MQ=34.14;MQRankSum=-1.005;QD=2.6;ReadPosRankSum=-1.011;SOR=4.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201896684;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.134G>A|p.Gly45Glu|134/948|134/948|45/315||;p3_1000G_AA=.|||;p3_1000G_AC=1884;p3_1000G_AF=0.376198;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs201896684;p3_1000G_DP=18263;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248722659;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:37,9:46:99:148,0,994
chr1	248559370	rs9439338	T	A	1682.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.19;QD=30.6;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs140437806;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.122A>T|p.Lys41Met|122/948|122/948|41/315||;p3_1000G_AA=.|||;p3_1000G_AC=2494;p3_1000G_AF=0.498003;p3_1000G_AFR_AF=0.6399;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs140437806;p3_1000G_DP=17465;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248722671;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1711,165,0
chr1	248559421	rs1629363	T	C	177.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.75;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=39.256;MLEAC=1;MLEAF=0.5;MQ=37.39;MQRankSum=-1.44;QD=3.49;ReadPosRankSum=1.13;SOR=4.396;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199528787;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.71A>G|p.Gln24Arg|71/948|71/948|24/315||;p3_1000G_AA=.|||;p3_1000G_AC=2997;p3_1000G_AF=0.598442;p3_1000G_AFR_AF=0.5877;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs199528787;p3_1000G_DP=17311;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.7247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248722722;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:43,8:51:99:0|1:248559421_T_C:206,0,1775
chr1	248559422	rs200037558	G	A	177.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.124;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=39.256;MLEAC=1;MLEAF=0.5;MQ=37.39;MQRankSum=-1.44;QD=3.49;ReadPosRankSum=0.26;SOR=4.396;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200037558;dbSNPBuildID=137;ANN=A|stop_gained|HIGH|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.70C>T|p.Gln24*|70/948|70/948|24/315||;p3_1000G_AA=.|||;p3_1000G_AC=375;p3_1000G_AF=0.0748802;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=17026;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248722723;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:43,8:51:99:0|1:248559421_T_C:206,0,1775
chr1	248559438	rs200935922	G	C	944.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.482;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=24.387;MLEAC=1;MLEAF=0.5;MQ=37.65;MQRankSum=1.46;QD=20.1;ReadPosRankSum=-0.112;SOR=2.359;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200935922;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.54C>G|p.Leu18Leu|54/948|54/948|18/315||	GT:AD:DP:GQ:PL	0/1:11,36:47:99:973,0,217
chr1	248559451	rs768630054	A	G	1156.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=16.184;MLEAC=1;MLEAF=0.5;MQ=39.51;MQRankSum=0.889;QD=26.9;ReadPosRankSum=-0.209;SOR=2.664;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.41T>C|p.Leu14Ser|41/948|41/948|14/315||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,31:43:99:0|1:248559451_A_G:1185,0,445
chr1	248559455	rs776458271	T	A	1058.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.683;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=16.348;MLEAC=1;MLEAF=0.5;MQ=40.2;MQRankSum=1.12;QD=27.15;ReadPosRankSum=-0.155;SOR=2.725;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.37A>T|p.Arg13Trp|37/948|37/948|13/315||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,27:39:99:0|1:248559451_A_G:1087,0,457
chr1	248559466	rs764893066	T	C	557.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=7.563;MLEAC=1;MLEAF=0.5;MQ=40.82;MQRankSum=2.67;QD=15.49;ReadPosRankSum=0.706;SOR=1.994;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.26A>G|p.Asn9Ser|26/948|26/948|9/315||,C|sequence_feature|MODERATE|OR2T29|OR2T29|glycosylation-site:N-linked_(GlcNAc...)|NM_001004694.2|protein_coding|1/1|c.26A>G||||||	GT:AD:DP:GQ:PL	0/1:15,21:36:99:586,0,336
chr1	248559476	rs1890803;rs77589892	T	A	1215.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.229;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.49;MQRankSum=-1.654;QD=33.02;ReadPosRankSum=-1.518;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs77589892;dbSNPBuildID=92;ANN=A|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.16A>T|p.Arg6Trp|16/948|16/948|6/315||;ESP6500_AA=A;ESP6500_AA_AC=2570,1836;ESP6500_AA_GTC=591,1388,224;ESP6500_CDS_SIZES=NM_001004694.2:948;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=69;ESP6500_EA_AC=2027,6569;ESP6500_EA_GTC=69,1889,2340;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004694.2:missense;ESP6500_GL=OR2T29;ESP6500_GRCh38_POSITION=1:248559476;ESP6500_GS=101;ESP6500_GTC=660,3277,2564;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004694.2:c.16A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004694.2:p.(R6W);ESP6500_MAF=23.5807,41.6704,35.3561;ESP6500_TAC=4597,8405	GT:AD:DP:GQ:PL	1/1:1,31:32:69:1244,69,0
chr1	248559487	rs1266832853	G	T	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.67;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.845;MLEAC=1;MLEAF=0.5;MQ=41.2;MQRankSum=3.1;QD=12.8;ReadPosRankSum=-1.288;SOR=1.44;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|missense_variant|MODERATE|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding|1/1|c.5C>A|p.Ala2Asp|5/948|5/948|2/315||	GT:AD:DP:GQ:PL	0/1:16,15:31:99:425,0,506
chr1	248559511	rs1292599442	C	A	130.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.662;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.625;MLEAC=1;MLEAF=0.5;MQ=36.95;MQRankSum=2.55;QD=5.45;ReadPosRankSum=-3.502;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|upstream_gene_variant|MODIFIER|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding||c.-20G>T|||||20|,A|intergenic_region|MODIFIER|OR2T29-OR2T34|OR2T29-OR2T34|intergenic_region|OR2T29-OR2T34|||n.248559511C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,6:24:99:0|1:248559511_C_A:159,0,774
chr1	248559517	rs1349845812	G	A	97.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.087;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.04;MQRankSum=2;QD=4.44;ReadPosRankSum=-2.547;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|upstream_gene_variant|MODIFIER|OR2T29|OR2T29|transcript|NM_001004694.2|protein_coding||c.-26C>T|||||26|,A|intergenic_region|MODIFIER|OR2T29-OR2T34|OR2T29-OR2T34|intergenic_region|OR2T29-OR2T34|||n.248559517G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,3:22:99:0|1:248559511_C_A:126,0,805
chr1	248573794	rs11485848	T	C	445.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.47;QD=34.29;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200055265;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding||c.*7A>G|||||7|,C|intergenic_region|MODIFIER|OR2T29-OR2T34|OR2T29-OR2T34|intergenic_region|OR2T29-OR2T34|||n.248573794T>C||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:39:474,39,0
chr1	248573866	rs148590921	G	A	311.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.68;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.48;MQRankSum=1.57;QD=10.75;ReadPosRankSum=-0.111;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148590921;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.892C>T|p.Arg298Cys|892/957|892/957|298/318||,A|sequence_feature|LOW|OR2T34|OR2T34|topological-domain:Cytoplasmic|NM_001001821.1|protein_coding|1/1|c.892C>T||||||	GT:AD:DP:GQ:PL	0/1:16,13:29:99:340,0,446
chr1	248573958	rs1770107	C	G	1643.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=32.36;QD=32.23;SOR=7.903;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs189248971;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.800G>C|p.Arg267Pro|800/957|800/957|267/318||	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1672,152,0
chr1	248573992	rs200427293	G	A	1001.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.142;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=17.068;MLEAC=1;MLEAF=0.5;MQ=37.97;MQRankSum=-1.289;QD=14.31;ReadPosRankSum=-0.732;SOR=3.912;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200427293;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.766C>T|p.Leu256Phe|766/957|766/957|256/318||;p3_1000G_AA=a|||;p3_1000G_AC=1515;p3_1000G_AF=0.302516;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=10823;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.2018;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248737293;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:43,27:70:99:0|1:248573992_G_A:1030,0,1745
chr1	248573993	rs201475070	C	G	1001.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.384;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=17.118;MLEAC=1;MLEAF=0.5;MQ=38.39;MQRankSum=-1.334;QD=13.91;ReadPosRankSum=-0.805;SOR=3.927;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201475070;dbSNPBuildID=137;ANN=G|synonymous_variant|LOW|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.765G>C|p.Leu255Leu|765/957|765/957|255/318||;p3_1000G_AA=g|||;p3_1000G_AC=1515;p3_1000G_AF=0.302516;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=10672;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.2018;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248737294;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:44,28:72:99:0|1:248573992_G_A:1030,0,1745
chr1	248574028	rs75095367	C	T	1859.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-7.46;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=25.205;MLEAC=1;MLEAF=0.5;MQ=44.07;MQRankSum=2.08;QD=16.75;ReadPosRankSum=0.976;SOR=0.063;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75095367;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.730G>A|p.Ala244Thr|730/957|730/957|244/318||;ESP6500_AA=C;ESP6500_AA_AC=894,3456;ESP6500_AA_GTC=168,558,1449;ESP6500_CDS_SIZES=NM_001001821.1:957;ESP6500_CG=0.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=110;ESP6500_EA_AC=734,7866;ESP6500_EA_GTC=28,678,3594;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001821.1:missense;ESP6500_GL=OR2T34;ESP6500_GRCh38_POSITION=1:248574028;ESP6500_GS=58;ESP6500_GTC=196,1236,5043;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001821.1:c.730G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001001821.1:p.(A244T);ESP6500_MAF=8.5349,20.5517,12.5714;ESP6500_PH=benign:0.156;ESP6500_TAC=1628,11322	GT:AD:DP:GQ:PL	0/1:39,72:111:99:1888,0,1548
chr1	248574042	rs61833441	C	T	1847.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.684;ClippingRankSum=0;DP=130;ExcessHet=3.0103;FS=3.285;MLEAC=1;MLEAF=0.5;MQ=44.95;MQRankSum=-3.143;QD=14.21;ReadPosRankSum=-2.434;SOR=1.009;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61833441;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.716G>A|p.Arg239His|716/957|716/957|239/318||	GT:AD:DP:GQ:PL	0/1:79,51:130:99:1876,0,3267
chr1	248574047	rs61833442	G	A	1900.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.56;ClippingRankSum=0;DP=134;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.15;MQRankSum=-2.433;QD=14.4;ReadPosRankSum=-1.586;SOR=0.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61833442;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.711C>T|p.Ala237Ala|711/957|711/957|237/318||;p3_1000G_AA=g|||;p3_1000G_AC=1625;p3_1000G_AF=0.324481;p3_1000G_AFR_AF=0.5098;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=20077;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.2107;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248737348;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:79,53:132:99:1929,0,3159
chr1	248574153	rs79750523	A	G	2331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.84;ClippingRankSum=0;DP=190;ExcessHet=3.0103;FS=3.409;MLEAC=1;MLEAF=0.5;MQ=47.07;MQRankSum=-4.884;QD=12.34;ReadPosRankSum=-0.727;SOR=0.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79750523;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.605T>C|p.Met202Thr|605/957|605/957|202/318||;ESP6500_AA=G;ESP6500_AA_AC=336,3872;ESP6500_AA_GTC=62,212,1830;ESP6500_CDS_SIZES=NM_001001821.1:957;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=200;ESP6500_EA_AC=611,7989;ESP6500_EA_GTC=5,601,3694;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001821.1:missense;ESP6500_GL=OR2T34;ESP6500_GRCh38_POSITION=1:248574153;ESP6500_GS=81;ESP6500_GTC=67,813,5524;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001821.1:c.605T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001821.1:p.(M202T);ESP6500_MAF=7.1047,7.9848,7.3938;ESP6500_PH=benign:0.0;ESP6500_TAC=947,11861	GT:AD:DP:GQ:PL	0/1:97,92:189:99:2360,0,2399
chr1	248574294	rs150601708	A	G	251.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.36;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=40.822;MLEAC=1;MLEAF=0.5;MQ=32.97;MQRankSum=4.75;QD=4.13;ReadPosRankSum=-1.109;SOR=4.972;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150601708;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|OR2T34|OR2T34|transcript|NM_001001821.1|protein_coding|1/1|c.464T>C|p.Val155Ala|464/957|464/957|155/318||	GT:AD:DP:GQ:PL	0/1:50,11:61:99:280,0,1406
chr1	248626153	rs1892441	G	C	6093.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=177;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.62;SOR=1.974;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1892441;dbSNPBuildID=92;ANN=C|downstream_gene_variant|MODIFIER|OR2T11|OR2T11|transcript|NM_001001964.1|protein_coding||c.*25C>G|||||25|,C|intergenic_region|MODIFIER|OR2T10-OR2T11|OR2T10-OR2T11|intergenic_region|OR2T10-OR2T11|||n.248626153G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=17503;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248789454;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2539,1555;ESP6500_AA_GTC=1014,511,522;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=50;ESP6500_EA_AC=8383,91;ESP6500_EA_GTC=4154,75,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=1:248626153;ESP6500_GTC=5168,586,530;ESP6500_GTS=CC,CG,GG;ESP6500_MAF=1.0739,37.9824,13.0968;ESP6500_TAC=10922,1646	GT:AD:DP:GQ:PL	1/1:0,176:176:99:6122,528,0
chr1	248626203	rs1892442	T	C	7856.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=239;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=1.437;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1892442;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|OR2T11|OR2T11|transcript|NM_001001964.1|protein_coding|1/1|c.926A>G|p.Gln309Arg|926/951|926/951|309/316||;p3_1000G_AA=c|||;p3_1000G_AC=4788;p3_1000G_AF=0.95607;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=18218;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9861;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248789504;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3514,590;ESP6500_AA_GTC=1615,284,153;ESP6500_CDS_SIZES=NM_001001964.1:951;ESP6500_CG=1.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=88;ESP6500_EA_AC=8397,77;ESP6500_EA_GTC=4168,61,8;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001964.1:missense;ESP6500_GL=OR2T11;ESP6500_GRCh38_POSITION=1:248626203;ESP6500_GS=43;ESP6500_GTC=5783,345,161;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001964.1:c.926A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001001964.1:p.(Q309R);ESP6500_MAF=0.9087,14.3762,5.3029;ESP6500_PH=benign:0.0;ESP6500_TAC=11911,667	GT:AD:DP:GQ:PL	1/1:0,238:238:99:7885,714,0
chr1	248626774	rs1892443	A	G	7245.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=219;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=0.759;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1892443;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|OR2T11|OR2T11|transcript|NM_001001964.1|protein_coding|1/1|c.355T>C|p.Cys119Arg|355/951|355/951|119/316||;p3_1000G_AA=.|||;p3_1000G_AC=4572;p3_1000G_AF=0.912939;p3_1000G_AFR_AF=0.6997;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=17033;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9861;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248790075;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2950,1148;ESP6500_AA_GTC=1237,476,336;ESP6500_CDS_SIZES=NM_001001964.1:951;ESP6500_CG=2.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=63;ESP6500_EA_AC=8398,76;ESP6500_EA_GTC=4169,60,8;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001964.1:missense;ESP6500_GL=OR2T11;ESP6500_GRCh38_POSITION=1:248626774;ESP6500_GS=180;ESP6500_GTC=5406,536,344;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001964.1:c.355T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001001964.1:p.(C119R);ESP6500_MAF=0.8969,28.0137,9.7359;ESP6500_PH=benign:0.0;ESP6500_TAC=11348,1224	GT:AD:DP:GQ:PL	1/1:0,219:219:99:7274,658,0
chr1	248638179	rs1770041	A	G	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.64;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.33;MLEAC=1;MLEAF=0.5;MQ=44.78;MQRankSum=-1.308;QD=3.63;ReadPosRankSum=-2.658;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNPBuildID=89;ANN=G|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*108T>C|||||108|,G|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638179A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=681;p3_1000G_AF=0.135982;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs556155608;p3_1000G_DP=17084;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248801480;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,5:36:99:0|1:248638179_A_G:159,0,1284
chr1	248638187	rs1782216	C	T	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.108;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=7.903;MLEAC=1;MLEAF=0.5;MQ=44.39;MQRankSum=-1.47;QD=4.67;ReadPosRankSum=-1.877;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNPBuildID=89;ANN=T|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*100G>A|||||100|,T|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638187C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,6:37:99:0|1:248638179_A_G:201,0,1281
chr1	248638204	rs1469237888	T	TCA	508.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.211;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=17.646;MLEAC=1;MLEAF=0.5;MQ=46.1;MQRankSum=-1.048;QD=13.04;ReadPosRankSum=-1.919;SOR=4.161;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=TCA|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*82_*83insTG|||||82|,TCA|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638204_248638205insCA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,12:39:99:0|1:248638179_A_G:546,0,1131
chr1	248638210	rs1426813466	A	G	562.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.55;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=21.597;MLEAC=1;MLEAF=0.5;MQ=46.71;MQRankSum=-0.786;QD=14.43;ReadPosRankSum=-1.878;SOR=4.615;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*77T>C|||||77|,G|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638210A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,15:39:99:0|1:248638179_A_G:591,0,1086
chr1	248638213	rs1194713395	AC	A	604.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.813;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=19.028;MLEAC=1;MLEAF=0.5;MQ=46.88;MQRankSum=-0.51;QD=15.12;ReadPosRankSum=-2.121;SOR=4.64;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*73delG|||||73|,A|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638214delC||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,17:40:99:0|1:248638179_A_G:642,0,957
chr1	248638227	rs764022470	G	A	706.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.345;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=17.269;MLEAC=1;MLEAF=0.5;MQ=46.7;MQRankSum=0.031;QD=19.1;ReadPosRankSum=-0.167;SOR=3.841;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*60C>T|||||60|,A|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638227G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,18:37:99:0|1:248638179_A_G:735,0,825
chr1	248638237	rs769756693	G	A	850.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.353;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=29.288;MLEAC=1;MLEAF=0.5;MQ=47.23;MQRankSum=0.936;QD=22.99;ReadPosRankSum=0.124;SOR=4.802;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*50C>T|||||50|,A|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638237G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,22:37:99:0|1:248638179_A_G:879,0,564
chr1	248638241	rs372631772	A	G	1018.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.72;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=32.171;MLEAC=1;MLEAF=0.5;MQ=48;MQRankSum=1.11;QD=25.47;ReadPosRankSum=0.378;SOR=5.057;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372631772;dbSNPBuildID=138;ANN=G|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*46T>C|||||46|,G|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638241A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,25:40:99:0|1:248638179_A_G:1047,0,552
chr1	248638249	rs374446105	C	T	1270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.747;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=25.533;MLEAC=1;MLEAF=0.5;MQ=49.06;MQRankSum=1.36;QD=28.24;ReadPosRankSum=1.31;SOR=3.908;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374446105;dbSNPBuildID=138;ANN=T|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*38G>A|||||38|,T|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638249C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,30:45:99:0|1:248638179_A_G:1299,0,534
chr1	248638255	rs79649486	C	T	1440.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.108;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=23.147;MLEAC=1;MLEAF=0.5;MQ=49.52;MQRankSum=2;QD=30.02;ReadPosRankSum=1.54;SOR=3.243;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79649486;dbSNPBuildID=131;ANN=T|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*32G>A|||||32|,T|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638255C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,34:48:99:0|1:248638179_A_G:1469,0,479
chr1	248638265	rs74154510	T	G	1953.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.413;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=22.612;MLEAC=1;MLEAF=0.5;MQ=50.5;MQRankSum=2.94;QD=31.42;ReadPosRankSum=1.74;SOR=2.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74154510;dbSNPBuildID=130;ANN=G|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*22A>C|||||22|,G|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638265T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,44:55:99:0|1:248638179_A_G:1982,0,317
chr1	248638271	rs1782217	A	G	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.23;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=13.49;MLEAC=1;MLEAF=0.5;MQ=49.51;MQRankSum=-4.079;QD=3.11;ReadPosRankSum=-1.852;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201969645;dbSNPBuildID=89;ANN=G|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*16T>C|||||16|,G|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638271A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1461;p3_1000G_AF=0.291733;p3_1000G_AFR_AF=0.3638;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=3729;p3_1000G_EAS_AF=0.2679;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248801572;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:52,9:61:99:0|1:248638271_A_G:218,0,2198
chr1	248638274	rs1770042	C	G	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=12.882;MLEAC=1;MLEAF=0.5;MQ=49.27;MQRankSum=-4.077;QD=2.96;ReadPosRankSum=-2.693;SOR=0.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199693554;dbSNPBuildID=89;ANN=G|downstream_gene_variant|MODIFIER|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding||c.*13G>C|||||13|,G|intergenic_region|MODIFIER|OR2T11-OR2T35|OR2T11-OR2T35|intergenic_region|OR2T11-OR2T35|||n.248638274C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=1350;p3_1000G_AF=0.269569;p3_1000G_AFR_AF=0.2874;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=3640;p3_1000G_EAS_AF=0.2669;p3_1000G_EUR_AF=0.1849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248801575;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:54,9:63:99:0|1:248638271_A_G:215,0,2240
chr1	248638291	rs78622116	C	T	2553.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.96;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.096;MLEAC=1;MLEAF=0.5;MQ=48.53;MQRankSum=3.14;QD=30.47;ReadPosRankSum=2.71;SOR=1.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78622116;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.968G>A|p.Gly323Asp|968/972|968/972|323/323||	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,62:67:99:0|1:248638179_A_G:2582,0,107
chr1	248638301	rs370874670	T	TCA	2667.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.612;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=6.846;MLEAC=1;MLEAF=0.5;MQ=48.19;MQRankSum=3.35;QD=29.32;ReadPosRankSum=3.41;SOR=1.741;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=TCA|frameshift_variant|HIGH|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.956_957dupTG|p.Ile320fs|957/972|957/972|319/323||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,63:70:99:0|1:248638179_A_G:2705,0,140
chr1	248638309	rs150878651	G	A	2673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.649;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=5.797;MLEAC=1;MLEAF=0.5;MQ=47.47;MQRankSum=3.58;QD=35.52;ReadPosRankSum=3.73;SOR=1.585;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150878651;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.950C>T|p.Ala317Val|950/972|950/972|317/323||;p3_1000G_AA=g|||;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=7239;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248801610;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,65:74:99:0|1:248638179_A_G:2702,0,182
chr1	248638310	rs143981271	C	T	2673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.181;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=5.757;MLEAC=1;MLEAF=0.5;MQ=47.56;MQRankSum=3.59;QD=29.52;ReadPosRankSum=3.79;SOR=1.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143981271;dbSNPBuildID=137;ANN=T|missense_variant|MODERATE|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.949G>A|p.Ala317Thr|949/972|949/972|317/323||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,64:73:99:0|1:248638179_A_G:2702,0,182
chr1	248638332	rs74901534	A	G	2698.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.006;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=1.414;MLEAC=1;MLEAF=0.5;MQ=47;MQRankSum=3.73;QD=34.51;ReadPosRankSum=1.91;SOR=1.095;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74901534;dbSNPBuildID=131;ANN=G|synonymous_variant|LOW|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.927T>C|p.Gly309Gly|927/972|927/972|309/323||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,68:77:99:0|1:248638179_A_G:2727,0,160
chr1	248638477	rs61834268	A	T	2203.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.33;ClippingRankSum=0;DP=147;ExcessHet=3.0103;FS=8.605;MLEAC=1;MLEAF=0.5;MQ=31.26;MQRankSum=0.92;QD=14.99;ReadPosRankSum=0.278;SOR=0.248;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201643849;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.782T>A|p.Leu261Gln|782/972|782/972|261/323||;p3_1000G_AA=A|||;p3_1000G_AC=2908;p3_1000G_AF=0.580671;p3_1000G_AFR_AF=0.416;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=19962;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248801778;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:63,84:147:99:2232,0,1542
chr1	248638596	rs79303917	G	A	4332.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.196;ClippingRankSum=0;DP=392;ExcessHet=3.0103;FS=5.745;MLEAC=1;MLEAF=0.5;MQ=38.44;MQRankSum=-0.469;QD=11.08;ReadPosRankSum=0.365;SOR=0.668;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79303917;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.663C>T|p.Ile221Ile|663/972|663/972|221/323||;ESP6500_AA=G;ESP6500_AA_AC=125,3975;ESP6500_AA_GTC=2,121,1927;ESP6500_CDS_SIZES=NM_001001827.1:972;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=93;ESP6500_EA_AC=877,7621;ESP6500_EA_GTC=4,869,3376;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001827.1:coding-synonymous;ESP6500_GL=OR2T35;ESP6500_GRCh38_POSITION=1:248638596;ESP6500_GTC=6,990,5303;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001827.1:c.663C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001001827.1:p.(I221);ESP6500_MAF=10.3201,3.0488,7.9536;ESP6500_TAC=1002,11596	GT:AD:DP:GQ:PL	0/1:194,197:391:99:4361,0,4396
chr1	248638643	rs72452004	TCAGCACG	T	6164.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=353;ExcessHet=3.0103;FS=4.927;MLEAC=1;MLEAF=0.5;MQ=37.75;MQRankSum=-0.481;QD=17.97;ReadPosRankSum=0.534;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143010547;dbSNPBuildID=134;ANN=T|frameshift_variant|HIGH|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.609_615delCGTGCTG|p.Cys203fs|615/972|609/972|203/323||;LOF=(OR2T35|OR2T35|1|1.00)	GT:AD:DP:GQ:PL	0/1:180,163:343:99:6202,0,6930
chr1	248638952	rs1200319457	A	AGAG	68.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=30.57;MQRankSum=1.28;QD=11.46;ReadPosRankSum=0.842;SOR=1.609;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=AGAG|conservative_inframe_insertion|MODERATE|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.306_307insCTC|p.Ile102_Phe103insLeu|306/972|306/972|102/323||,AGAG|sequence_feature|LOW|OR2T35|OR2T35|transmembrane-region:Transmembrane_region|NM_001001827.1|protein_coding|1/1|c.306_307insCTC||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:23:106,0,23
chr1	248639168	rs1782218	C	T	345.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27.45;QD=28.81;SOR=5.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs199678335;dbSNPBuildID=89;ANN=T|missense_variant|MODERATE|OR2T35|OR2T35|transcript|NM_001001827.1|protein_coding|1/1|c.91G>A|p.Val31Ile|91/972|91/972|31/323||	GT:AD:DP:GQ:PL	1/1:0,12:12:36:374,36,0
chr1	248650246	rs1770073	G	C	1000.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.31;QD=29.78;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201161767;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|OR2T27|OR2T27|transcript|NM_001001824.1|protein_coding|1/1|c.639C>G|p.Val213Val|639/954|639/954|213/317||	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1029,84,0
chr1	248650526	rs1782241	T	C	416.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=29.77;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1782241;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|OR2T27|OR2T27|transcript|NM_001001824.1|protein_coding|1/1|c.359A>G|p.Tyr120Cys|359/954|359/954|120/317||	GT:AD:DP:GQ:PL	1/1:0,14:14:42:445,42,0
chr1	248650600	rs144600224	A	T	671.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.43;QD=31.99;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs144600224;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|OR2T27|OR2T27|transcript|NM_001001824.1|protein_coding|1/1|c.285T>A|p.Ala95Ala|285/954|285/954|95/317||	GT:AD:DP:GQ:PL	1/1:0,21:21:63:700,63,0
chr1	248650751	rs28533004	T	A	849.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.64;QD=28.33;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28533004;dbSNPBuildID=125;ANN=A|missense_variant|MODERATE|OR2T27|OR2T27|transcript|NM_001001824.1|protein_coding|1/1|c.134A>T|p.Lys45Met|134/954|134/954|45/317||	GT:AD:DP:GQ:PL	1/1:0,30:30:90:878,90,0
chr1	248650779	rs1782242	A	C	1210.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.34;QD=29.53;SOR=0.843;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1782242;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|OR2T27|OR2T27|transcript|NM_001001824.1|protein_coding|1/1|c.106T>G|p.Leu36Val|106/954|106/954|36/317||;p3_1000G_AA=C|||;p3_1000G_AC=4731;p3_1000G_AF=0.944688;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=25966;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248814080;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1239,122,0
chr1	248650825	rs28418327	G	A	772.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.421;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.102;MLEAC=1;MLEAF=0.5;MQ=49.55;MQRankSum=-0.393;QD=14.31;ReadPosRankSum=1.38;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28418327;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|OR2T27|OR2T27|transcript|NM_001001824.1|protein_coding|1/1|c.60C>T|p.Asn20Asn|60/954|60/954|20/317||	GT:AD:DP:GQ:PL	0/1:21,33:54:99:801,0,463
chr1	248650964	rs3033476	GAAC	G	79.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.45;QD=26.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3033476;dbSNPBuildID=102;ANN=G|upstream_gene_variant|MODIFIER|OR2T27|OR2T27|transcript|NM_001001824.1|protein_coding||c.-83_-81delGTT|||||81|,G|intergenic_region|MODIFIER|OR2T27-OR14I1|OR2T27-OR14I1|intergenic_region|OR2T27-OR14I1|||n.248650965_248650967delAAC||||||;p3_1000G_AC=3619;p3_1000G_AF=0.722644;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=5494;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.9324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248814265;p3_1000G_GRCH37_REF=GAAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:116,9,0
chr1	248681796	rs2000390	C	T	3162.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=1.156;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2000390;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|OR14I1|OR14I1|transcript|NM_001004734.1|protein_coding|1/1|c.509G>A|p.Ser170Asn|509/936|509/936|170/311||;p3_1000G_AA=T|||;p3_1000G_AC=3765;p3_1000G_AF=0.751797;p3_1000G_AFR_AF=0.4251;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=20991;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.8777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248845097;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2193,2213;ESP6500_AA_GTC=540,1113,550;ESP6500_CDS_SIZES=NM_001004734.1:936;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=99;ESP6500_EA_AC=7564,1036;ESP6500_EA_GTC=3325,914,61;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004734.1:missense;ESP6500_GL=OR14I1;ESP6500_GRCh38_POSITION=1:248681796;ESP6500_GS=46;ESP6500_GTC=3865,2027,611;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004734.1:c.509G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004734.1:p.(S170N);ESP6500_MAF=12.0465,49.773,24.9808;ESP6500_PH=benign:0.0;ESP6500_TAC=9757,3249	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3191,291,0
chr1	248682110	rs11485825	G	A	2092.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=1.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11485825;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|OR14I1|OR14I1|transcript|NM_001004734.1|protein_coding|1/1|c.195C>T|p.Ser65Ser|195/936|195/936|65/311||;p3_1000G_AA=G|||;p3_1000G_AC=3872;p3_1000G_AF=0.773163;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=21030;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.8787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248845411;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8538;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2478,1928;ESP6500_AA_GTC=686,1106,411;ESP6500_CDS_SIZES=NM_001004734.1:936;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=119;ESP6500_EA_AC=7572,1028;ESP6500_EA_GTC=3331,910,59;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004734.1:coding-synonymous;ESP6500_GL=OR14I1;ESP6500_GRCh38_POSITION=1:248682110;ESP6500_GTC=4017,2016,470;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001004734.1:c.195C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004734.1:p.(S65);ESP6500_MAF=11.9535,43.7585,22.728;ESP6500_TAC=10050,2956	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2121,201,0
chr1	248682157	rs4509608	C	T	1358.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=1.364;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4509608;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|OR14I1|OR14I1|transcript|NM_001004734.1|protein_coding|1/1|c.148G>A|p.Asp50Asn|148/936|148/936|50/311||;p3_1000G_AA=C|||;p3_1000G_AC=3738;p3_1000G_AF=0.746406;p3_1000G_AFR_AF=0.3964;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=19906;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.8857;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248845458;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2033,2373;ESP6500_AA_GTC=465,1103,635;ESP6500_CDS_SIZES=NM_001004734.1:936;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=126;ESP6500_EA_AC=7599,1001;ESP6500_EA_GTC=3356,887,57;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004734.1:missense;ESP6500_GL=OR14I1;ESP6500_GRCh38_POSITION=1:248682157;ESP6500_GS=23;ESP6500_GTC=3821,1990,692;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004734.1:c.148G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001004734.1:p.(D50N);ESP6500_MAF=11.6395,46.1416,25.9419;ESP6500_PH=probably-damaging:0.975;ESP6500_TAC=9632,3374	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1387,132,0
chr1	248682170	rs4575113	T	C	1300.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=1.556;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4575113;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|OR14I1|OR14I1|transcript|NM_001004734.1|protein_coding|1/1|c.135A>G|p.Ala45Ala|135/936|135/936|45/311||;p3_1000G_AA=C|||;p3_1000G_AC=4377;p3_1000G_AF=0.874002;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=19297;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248845471;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2682,1724;ESP6500_AA_GTC=812,1058,333;ESP6500_CDS_SIZES=NM_001004734.1:936;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=115;ESP6500_EA_AC=8551,49;ESP6500_EA_GTC=4251,49,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004734.1:coding-synonymous;ESP6500_GL=OR14I1;ESP6500_GRCh38_POSITION=1:248682170;ESP6500_GTC=5063,1107,333;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001004734.1:c.135A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001004734.1:p.(A45);ESP6500_MAF=0.5698,39.1285,13.6322;ESP6500_TAC=11233,1773	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1329,126,0
chr1	248682198	rs4462184	A	G	1270.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4462184;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|OR14I1|OR14I1|transcript|NM_001004734.1|protein_coding|1/1|c.107T>C|p.Val36Ala|107/936|107/936|36/311||;p3_1000G_AA=G|||;p3_1000G_AC=4543;p3_1000G_AF=0.907149;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=18654;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=248845499;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3156,1250;ESP6500_AA_GTC=1120,916,167;ESP6500_CDS_SIZES=NM_001004734.1:936;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=85;ESP6500_EA_AC=8564,36;ESP6500_EA_GTC=4264,36,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004734.1:missense;ESP6500_GL=OR14I1;ESP6500_GRCh38_POSITION=1:248682198;ESP6500_GS=64;ESP6500_GTC=5384,952,167;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004734.1:c.107T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004734.1:p.(V36A);ESP6500_MAF=0.4186,28.3704,9.8877;ESP6500_PH=benign:0.0;ESP6500_TAC=11720,1286	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1299,117,0
chr1	248745207	rs62652287	T	C	1514.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.7;SOR=0.813;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|LYPD8|LYPD8|transcript|NM_001085474.1|protein_coding|6/7|c.410A>G|p.His137Arg|690/1189|410/714|137/237||,C|missense_variant|MODERATE|LYPD8|LYPD8|transcript|NM_001291283.1|protein_coding|5/6|c.410A>G|p.His137Arg|542/1041|410/714|137/237||	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1543,153,0
chr1	248748175	.	GCCCGCACGGCCAGCACCCACCCAGGGCATCC	G	89.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.517;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.77;MQRankSum=1.11;QD=6.9;ReadPosRankSum=-2.1;SOR=0.551;DEL;HET;VARTYPE=DEL;ANN=G|intron_variant|MODIFIER|LYPD8|LYPD8|transcript|NM_001085474.1|protein_coding|5/6|c.337+83_337+113delGGATGCCCTGGGTGGGTGCTGGCCGTGCGGG||||||,G|intron_variant|MODIFIER|LYPD8|LYPD8|transcript|NM_001291283.1|protein_coding|4/5|c.337+83_337+113delGGATGCCCTGGGTGGGTGCTGGCCGTGCGGG||||||	GT:AD:DP:GQ:PL	0/1:7,6:13:99:127,0,412
chr1	248750448	rs878905905	C	A	646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|intron_variant|MODIFIER|LYPD8|LYPD8|transcript|NM_001085474.1|protein_coding|4/6|c.172+76G>T||||||,A|intron_variant|MODIFIER|LYPD8|LYPD8|transcript|NM_001291283.1|protein_coding|3/5|c.172+76G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:248750448_C_A:675,54,0
chr1	248750449	rs980112397	C	T	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.48;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.99;ReadPosRankSum=-0.868;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|intron_variant|MODIFIER|LYPD8|LYPD8|transcript|NM_001085474.1|protein_coding|4/6|c.172+75G>A||||||,T|intron_variant|MODIFIER|LYPD8|LYPD8|transcript|NM_001291283.1|protein_coding|3/5|c.172+75G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,5:18:99:0|1:248750448_C_A:100,0,451
chr1	248813215	rs11205412	T	C	411.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.34;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=2.3;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11205412;dbSNPBuildID=120;ANN=C|5_prime_UTR_variant|MODIFIER|SH3BP5L|SH3BP5L|transcript|NM_001322464.1|protein_coding|6/7|c.-17A>G|||||17|,C|intron_variant|MODIFIER|SH3BP5L|SH3BP5L|transcript|NM_030645.1|protein_coding|5/6|c.538-53A>G||||||,C|intron_variant|MODIFIER|SH3BP5L|SH3BP5L|transcript|NM_001322462.1|protein_coding|7/8|c.181-53A>G||||||,C|intron_variant|MODIFIER|SH3BP5L|SH3BP5L|transcript|NM_001322463.1|protein_coding|5/6|c.181-53A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1120;p3_1000G_AF=0.223642;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=19170;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.0915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249107414;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:440,0,374
chr1	248814441	rs12031808	C	T	477.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.85;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.873;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=2.12;SOR=0.304;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12031808;dbSNPBuildID=120;ANN=T|splice_region_variant&intron_variant|LOW|SH3BP5L|SH3BP5L|transcript|NM_030645.1|protein_coding|5/6|c.537+8G>A||||||,T|splice_region_variant&intron_variant|LOW|SH3BP5L|SH3BP5L|transcript|NM_001322462.1|protein_coding|7/8|c.180+8G>A||||||,T|splice_region_variant&intron_variant|LOW|SH3BP5L|SH3BP5L|transcript|NM_001322463.1|protein_coding|5/6|c.180+8G>A||||||,T|splice_region_variant&intron_variant|LOW|SH3BP5L|SH3BP5L|transcript|NM_001322464.1|protein_coding|5/6|c.-48+8G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1310;p3_1000G_AF=0.261581;p3_1000G_AFR_AF=0.5174;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=19513;p3_1000G_EAS_AF=0.3869;p3_1000G_EUR_AF=0.0934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249108640;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2042,2364;ESP6500_AA_AGE=556.0+/-379.4;ESP6500_AA_GTC=478,1086,639;ESP6500_CDS_SIZES=NM_030645.1:1182;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=61;ESP6500_EA_AC=872,7728;ESP6500_EA_AGE=194.5+/-239.9;ESP6500_EA_GTC=39,794,3467;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030645.1:intron;ESP6500_GL=SH3BP5L;ESP6500_GRCh38_POSITION=1:248814441;ESP6500_GTC=517,1880,4106;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_030645.1:c.537+8G>A;ESP6500_MAF=10.1395,46.3459,22.405;ESP6500_TAC=2914,10092	GT:AD:DP:GQ:PL	0/1:27,21:48:99:506,0,758
chr1	248814835	rs10888590	A	G	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10888590;dbSNPBuildID=120;ANN=G|5_prime_UTR_variant|MODIFIER|SH3BP5L|SH3BP5L|transcript|NM_001322462.1|protein_coding|6/9|c.-107T>C|||||107|,G|5_prime_UTR_variant|MODIFIER|SH3BP5L|SH3BP5L|transcript|NM_001322463.1|protein_coding|4/7|c.-107T>C|||||107|,G|intron_variant|MODIFIER|SH3BP5L|SH3BP5L|transcript|NM_030645.1|protein_coding|4/6|c.376-225T>C||||||,G|intron_variant|MODIFIER|SH3BP5L|SH3BP5L|transcript|NM_001322464.1|protein_coding|4/6|c.-209-225T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2326;p3_1000G_AF=0.464457;p3_1000G_AFR_AF=0.8563;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=20433;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.1461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249109034;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:29:75,0,29
chr1	248847583	rs12038641	A	T	1053.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0.951;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.293;SOR=0.556;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12038641;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ZNF672|ZNF672|transcript|NM_024836.2|protein_coding|4/4|c.309A>T|p.Thr103Thr|1157/3091|309/1359|103/452||,T|downstream_gene_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_001136036.2|protein_coding||c.*2627T>A|||||2421|,T|downstream_gene_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_001193328.1|protein_coding||c.*2627T>A|||||2421|,T|downstream_gene_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_017865.3|protein_coding||c.*2627T>A|||||2421|;p3_1000G_AA=A|||;p3_1000G_AC=485;p3_1000G_AF=0.096845;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=10988;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249141782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=563,3761;ESP6500_AA_GTC=26,511,1625;ESP6500_CDS_SIZES=NM_024836.1:1359;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=7;ESP6500_EA_AC=31,8445;ESP6500_EA_GTC=1,29,4208;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024836.1:coding-synonymous;ESP6500_GL=ZNF672;ESP6500_GRCh38_POSITION=1:248847583;ESP6500_GTC=27,540,5833;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_024836.1:c.309A>T;ESP6500_HGVS_PROTEIN_VAR=NM_024836.1:p.(T103);ESP6500_MAF=0.3657,13.0204,4.6406;ESP6500_TAC=594,12206	GT:AD:DP:GQ:PL	0/1:27,38:65:99:1082,0,697
chr1	248850873	rs11434456	C	CA	1372.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=1.308;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11434456;dbSNPBuildID=126;ANN=CA|downstream_gene_variant|MODIFIER|ZNF672|ZNF672|transcript|NM_024836.2|protein_coding||c.*2240_*2241insA|||||1357|,CA|intron_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_001136036.2|protein_coding|10/11|c.1169-93_1169-92insT||||||,CA|intron_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_001193328.1|protein_coding|9/10|c.1019-93_1019-92insT||||||,CA|intron_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_017865.3|protein_coding|10/11|c.1154-93_1154-92insT||||||;p3_1000G_AA=A|-|A|deletion;p3_1000G_AC=2459;p3_1000G_AF=0.491014;p3_1000G_AFR_AF=0.9357;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=11119;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249145072;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1410,108,0
chr1	248855287	rs12135449	T	C	944.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12135449;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_001136036.2|protein_coding|9/11|c.1053+93A>G||||||,C|intron_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_001193328.1|protein_coding|8/10|c.903+93A>G||||||,C|intron_variant|MODIFIER|ZNF692|ZNF692|transcript|NM_017865.3|protein_coding|9/11|c.1038+93A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2416;p3_1000G_AF=0.482428;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=20686;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.1471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249149486;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:973,87,0
chr1	248913954	rs12025760	C	A	274.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.461;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.978;SOR=1.532;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12025760;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PGBD2|PGBD2|transcript|NM_170725.2|protein_coding|2/2|c.17+75C>A||||||,A|intron_variant|MODIFIER|PGBD2|PGBD2|transcript|NM_001017434.1|protein_coding|2/2|c.-60+75C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=224;p3_1000G_AF=0.0447284;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=19526;p3_1000G_EAS_AF=0.1319;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249208153;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=32,1352;ESP6500_AA_GTC=0,32,660;ESP6500_CDS_SIZES=NM_170725.2:1779,NM_001017434.1:1026;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=106;ESP6500_EA_AC=15,3167;ESP6500_EA_GTC=0,15,1576;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170725.2:intron,NM_001017434.1:intron;ESP6500_GL=PGBD2;ESP6500_GRCh38_POSITION=1:248913954;ESP6500_GTC=0,47,2236;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_170725.2:c.17+75C>A,NM_001017434.1:c.-3384C>A;ESP6500_MAF=0.4714,2.3121,1.0293;ESP6500_TAC=47,4519	GT:AD:DP:GQ:PL	0/1:9,11:20:99:303,0,292
chr1	248916897	rs74157349	G	A	957.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.22;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0.95;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.462;SOR=0.628;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74157349;dbSNPBuildID=130;ANN=A|missense_variant|MODERATE|PGBD2|PGBD2|transcript|NM_170725.2|protein_coding|3/3|c.313G>A|p.Val105Ile|460/2709|313/1779|105/592||,A|intron_variant|MODIFIER|PGBD2|PGBD2|transcript|NM_001017434.1|protein_coding|2/2|c.-59-382G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=304;p3_1000G_AF=0.0607029;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=20302;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249211096;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=365,4041;ESP6500_AA_AGE=187.1+/-213.8;ESP6500_AA_GTC=15,335,1853;ESP6500_CDS_SIZES=NM_170725.2:1779,NM_001017434.1:1026;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=60;ESP6500_EA_AC=48,8552;ESP6500_EA_AGE=30.7+/-82.3;ESP6500_EA_GTC=0,48,4252;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_170725.2:missense,NM_001017434.1:intron;ESP6500_GL=PGBD2;ESP6500_GRCh38_POSITION=1:248916897;ESP6500_GS=29,.;ESP6500_GTC=15,383,6105;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_170725.2:c.313G>A,NM_001017434.1:c.-441G>A;ESP6500_HGVS_PROTEIN_VAR=NM_170725.2:p.(V105I),.;ESP6500_MAF=0.5581,8.2842,3.1755;ESP6500_PH=benign:0.001,.;ESP6500_TAC=413,12593	GT:AD:DP:GQ:PL	0/1:28,37:65:99:986,0,772
chr1	248917151	rs34013644	T	C	976.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.49;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=3.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.383;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34013644;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|PGBD2|PGBD2|transcript|NM_170725.2|protein_coding|3/3|c.567T>C|p.Ser189Ser|714/2709|567/1779|189/592||,C|intron_variant|MODIFIER|PGBD2|PGBD2|transcript|NM_001017434.1|protein_coding|2/2|c.-59-128T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=161;p3_1000G_AF=0.0321486;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=20825;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0.0378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249211350;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=50,4356;ESP6500_AA_AGE=50.9+/-86.3;ESP6500_AA_GTC=0,50,2153;ESP6500_CDS_SIZES=NM_170725.2:1779,NM_001017434.1:1026;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=151;ESP6500_EA_AC=281,8319;ESP6500_EA_AGE=105.4+/-166.3;ESP6500_EA_GTC=5,271,4024;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170725.2:coding-synonymous,NM_001017434.1:intron;ESP6500_GL=PGBD2;ESP6500_GRCh38_POSITION=1:248917151;ESP6500_GTC=5,321,6177;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_170725.2:c.567T>C,NM_001017434.1:c.-187T>C;ESP6500_HGVS_PROTEIN_VAR=NM_170725.2:p.(S189),.;ESP6500_MAF=3.2674,1.1348,2.545;ESP6500_TAC=331,12675	GT:AD:DP:GQ:PL	0/1:51,38:89:99:1005,0,1335
chr1	248917420	rs77124333	G	A	1655.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.306;ClippingRankSum=0;DP=116;ExcessHet=3.0103;FS=0.694;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.706;SOR=0.817;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77124333;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|PGBD2|PGBD2|transcript|NM_170725.2|protein_coding|3/3|c.836G>A|p.Arg279Gln|983/2709|836/1779|279/592||,A|missense_variant|MODERATE|PGBD2|PGBD2|transcript|NM_001017434.1|protein_coding|3/3|c.83G>A|p.Arg28Gln|306/2032|83/1026|28/341||;p3_1000G_AA=g|||;p3_1000G_AC=175;p3_1000G_AF=0.0349441;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=18475;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.0109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249211619;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=12,4394;ESP6500_AA_AGE=19.1+/-41.9;ESP6500_AA_GTC=0,12,2191;ESP6500_CDS_SIZES=NM_170725.2:1779,NM_001017434.1:1026;ESP6500_CG=2.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=83;ESP6500_EA_AC=44,8556;ESP6500_EA_AGE=29.0+/-79.6;ESP6500_EA_GTC=0,44,4256;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_170725.2:missense,NM_001017434.1:missense;ESP6500_GL=PGBD2;ESP6500_GRCh38_POSITION=1:248917420;ESP6500_GS=43,43;ESP6500_GTC=0,56,6447;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_170725.2:c.836G>A,NM_001017434.1:c.83G>A;ESP6500_HGVS_PROTEIN_VAR=NM_170725.2:p.(R279Q),NM_001017434.1:p.(R28Q);ESP6500_MAF=0.5116,0.2724,0.4306;ESP6500_PH=probably-damaging:0.99,probably-damaging:0.99;ESP6500_TAC=56,12950	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1684,0,1324
chr1	248918526	rs41311595	T	C	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.334;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.38;ReadPosRankSum=-0.833;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41311595;dbSNPBuildID=127;ANN=C|3_prime_UTR_variant|MODIFIER|PGBD2|PGBD2|transcript|NM_170725.2|protein_coding|3/3|c.*163T>C|||||163|,C|3_prime_UTR_variant|MODIFIER|PGBD2|PGBD2|transcript|NM_001017434.1|protein_coding|3/3|c.*163T>C|||||163|;p3_1000G_AA=t|||;p3_1000G_AC=157;p3_1000G_AF=0.0313498;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=15041;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0.0388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=249212725;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:92:92,0,183
chr2	45895	rs4241318	A	G	431.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.36;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4241318;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|FAM110C|FAM110C|transcript|NM_001077710.2|protein_coding|1/2|c.491T>C|p.Ile164Thr|694/3963|491/966|164/321||;p3_1000G_AA=G|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=7869;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45895;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2781,1;ESP6500_AA_GTC=1390,1,0;ESP6500_CDS_SIZES=NM_001077710.2:966;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=3;ESP6500_EA_AC=6567,21;ESP6500_EA_GTC=3273,21,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001077710.2:missense;ESP6500_GL=FAM110C;ESP6500_GRCh38_POSITION=2:45895;ESP6500_GS=89;ESP6500_GTC=4663,22,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001077710.2:c.491T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001077710.2:p.(I164T);ESP6500_MAF=0.3188,0.0359,0.2348;ESP6500_PH=benign:0.0;ESP6500_TAC=9348,22	GT:AD:DP:GQ:PL	1/1:0,11:11:33:460,33,0
chr2	224919	rs2290911	A	G	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.887;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.978;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290911;dbSNPBuildID=100;ANN=G|splice_region_variant&synonymous_variant|LOW|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|9/10|c.783T>C|p.Ser261Ser|896/1817|783/1029|261/342||,G|splice_region_variant&synonymous_variant|LOW|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|11/12|c.495T>C|p.Ser165Ser|1050/1971|495/741|165/246||,G|splice_region_variant&non_coding_transcript_exon_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|9/10|n.1091T>C||||||,G|splice_region_variant&non_coding_transcript_exon_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|11/12|n.2455T>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|10/10|n.2436+5047T>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|10/10|n.1614+5047T>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|8/8|c.781+5047T>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|10/10|c.493+5047T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1280;p3_1000G_AF=0.255591;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=17201;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.331;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224919;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=733,2907;ESP6500_AA_GTC=71,591,1158;ESP6500_CDS_SIZES=NM_015677.2:1029,NM_001159597.1:972;ESP6500_CG=2.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=114;ESP6500_EA_AC=2797,5365;ESP6500_EA_GTC=459,1879,1743;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015677.2:coding-synonymous-near-splice,NM_001159597.1:intron;ESP6500_GL=SH3YL1;ESP6500_GRCh38_POSITION=2:224919;ESP6500_GTC=530,2470,2901;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015677.2:c.783T>C,NM_001159597.1:c.781+5047T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015677.2:p.(S261),.;ESP6500_MAF=34.2686,20.1374,29.9102;ESP6500_TAC=3530,8272	GT:AD:DP:GQ:PL	0/1:16,11:27:99:280,0,410
chr2	224970	rs2290912	C	T	437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290912;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|8/9|c.782-50G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|10/11|c.494-50G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|10/10|n.2436+4996G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|10/10|n.1614+4996G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|8/8|c.781+4996G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|8/9|n.1090-50G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|10/11|n.2454-50G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|10/10|c.493+4996G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2980;p3_1000G_AF=0.595048;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=16956;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224970;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1737,1899;ESP6500_AA_GTC=405,927,486;ESP6500_CDS_SIZES=NM_015677.2:1029,NM_001159597.1:972;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=5630,2514;ESP6500_EA_GTC=1907,1816,349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015677.2:intron,NM_001159597.1:intron;ESP6500_GL=SH3YL1;ESP6500_GRCh38_POSITION=2:224970;ESP6500_GTC=2312,2743,835;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015677.2:c.782-50G>A,NM_001159597.1:c.781+4996G>A;ESP6500_MAF=30.8694,47.7723,37.4618;ESP6500_TAC=7367,4413	GT:AD:DP:GQ:PL	1/1:0,14:14:42:466,42,0
chr2	230912	rs2306060	A	C	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.65;ReadPosRankSum=0;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306060;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|7/9|c.702+111T>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|9/11|c.414+111T>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|9/10|n.1535+111T>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|7/8|c.702+111T>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|7/9|n.1010+111T>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|9/11|n.2374+111T>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|9/10|c.414+111T>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|9/11|n.1992T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1403;p3_1000G_AF=0.280152;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=20084;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230912;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:83:312,0,83
chr2	234130	rs3748872	T	G	475.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.677;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-1.637;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748872;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|5/9|c.404+30A>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|7/11|c.116+30A>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|7/10|n.1583+30A>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|7/10|n.1237+30A>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|5/8|c.404+30A>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|5/9|n.712+30A>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|7/11|n.2076+30A>C||||||,G|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|7/10|c.116+30A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1566;p3_1000G_AF=0.3127;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=17489;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.3598;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234130;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=652,3002;ESP6500_AA_GTC=62,528,1237;ESP6500_CDS_SIZES=NM_015677.2:1029,NM_001159597.1:972;ESP6500_CG=4.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=2810,5362;ESP6500_EA_GTC=486,1838,1762;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015677.2:intron,NM_001159597.1:intron;ESP6500_GL=SH3YL1;ESP6500_GRCh38_POSITION=2:234130;ESP6500_GTC=548,2366,2999;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015677.2:c.404+30A>C,NM_001159597.1:c.404+30A>C;ESP6500_MAF=34.3857,17.8435,29.2745;ESP6500_TAC=3462,8364	GT:AD:DP:GQ:PL	0/1:20,19:39:99:504,0,480
chr2	242732	rs113405432;rs398071221	T	TAAC	727.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=0.804;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113405432;dbSNPBuildID=132,138;ANN=TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|4/9|c.291+4803_291+4805dupGTT||||||,TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|6/11|c.3+63_3+65dupGTT||||||,TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|6/10|n.1470+63_1470+65dupGTT||||||,TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|6/10|n.1124+768_1124+770dupGTT||||||,TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|4/8|c.291+4803_291+4805dupGTT||||||,TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|4/9|n.599+4803_599+4805dupGTT||||||,TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|6/11|n.1963+4803_1963+4805dupGTT||||||,TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|6/10|c.3+63_3+65dupGTT||||||,TAAC|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene|6/6|n.592-559_592-557dupGTT||||||	GT:AD:DP:GQ:PL	1/1:0,17:17:51:765,51,0
chr2	242793	rs62114506	G	C	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.236;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.097;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62114506;dbSNPBuildID=129;ANN=C|splice_region_variant&intron_variant|LOW|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|6/11|c.3+5C>G||||||,C|splice_region_variant&intron_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|6/10|n.1470+5C>G||||||,C|splice_region_variant&intron_variant|LOW|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|6/10|c.3+5C>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|4/9|c.291+4745C>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|6/10|n.1124+710C>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|4/8|c.291+4745C>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|4/9|n.599+4745C>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|6/11|n.1963+4745C>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene|6/6|n.592-617C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=1097;p3_1000G_AF=0.21905;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=17862;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242793;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA_AC=328,1812;ESP6500_AA_GTC=24,280,766;ESP6500_CDS_SIZES=NM_015677.2:1029,NM_001159597.1:972;ESP6500_CG=0.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=97;ESP6500_EA_AC=1121,3211;ESP6500_EA_GTC=145,831,1190;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015677.2:intron,NM_001159597.1:intron;ESP6500_GL=SH3YL1;ESP6500_GRCh38_POSITION=2:242793;ESP6500_GTC=169,1111,1956;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015677.2:c.291+4745C>G,NM_001159597.1:c.291+4745C>G;ESP6500_MAF=25.8772,15.3271,22.3888;ESP6500_TAC=1449,5023	GT:AD:DP:GQ:PL	0/1:14,13:27:99:347,0,545
chr2	242800	rs10181051	T	C	338.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.335;SOR=0.728;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10181051;dbSNPBuildID=119;ANN=C|start_lost&splice_region_variant|HIGH|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|6/12|c.1A>G|p.Met1?|556/1971|1/741|1/246||,C|start_lost&splice_region_variant|HIGH|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|6/11|c.1A>G|p.Met1?|507/1865|1/684|1/227||,C|splice_region_variant&non_coding_transcript_exon_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|6/11|n.1468A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|4/9|c.291+4738A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|6/10|n.1124+703A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|4/8|c.291+4738A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|4/9|n.599+4738A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|6/11|n.1963+4738A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene|6/6|n.592-624A>G||||||;LOF=(SH3YL1|SH3YL1|9|0.22);p3_1000G_AA=t|||;p3_1000G_AC=1630;p3_1000G_AF=0.325479;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=18030;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242800;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP;ESP6500_AA_AC=421,1751;ESP6500_AA_GTC=42,337,707;ESP6500_CDS_SIZES=NM_015677.2:1029,NM_001159597.1:972;ESP6500_CG=0.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=103;ESP6500_EA_AC=1675,2669;ESP6500_EA_GTC=328,1019,825;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015677.2:intron,NM_001159597.1:intron;ESP6500_GL=SH3YL1;ESP6500_GRCh38_POSITION=2:242800;ESP6500_GTC=370,1356,1532;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015677.2:c.291+4738A>G,NM_001159597.1:c.291+4738A>G;ESP6500_MAF=38.5589,19.3831,32.167;ESP6500_TAC=2096,4420	GT:AD:DP:GQ:PL	0/1:13,13:26:99:367,0,507
chr2	243504	rs7556816	C	T	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.68;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=1.31;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7556816;dbSNPBuildID=116;ANN=T|splice_region_variant|LOW|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|5/12|c.-73G>A||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|5/11|n.1395G>A||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|6/11|n.1123G>A||||||,T|splice_region_variant|LOW|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|5/11|c.-73G>A||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene|6/7|n.590G>A||||||,T|5_prime_UTR_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|5/12|c.-73G>A|||||704|,T|5_prime_UTR_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|5/11|c.-73G>A|||||704|,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|4/9|c.291+4034G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|4/8|c.291+4034G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|4/9|n.599+4034G>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|6/11|n.1963+4034G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1569;p3_1000G_AF=0.313299;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=19570;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243504;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:273,0,194
chr2	243567	rs11383620;rs530265334	T	TA	571.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.99;SOR=0.874;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11383620;dbSNPBuildID=142,134;ANN=TA|splice_region_variant&intron_variant|LOW|SH3YL1|SH3YL1|transcript|NM_001282687.1|protein_coding|4/11|c.-131-6dupT||||||,TA|splice_region_variant&intron_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene|4/10|n.1337-6dupT||||||,TA|splice_region_variant&intron_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|5/10|n.1065-6dupT||||||,TA|splice_region_variant&intron_variant|LOW|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|4/10|c.-131-6dupT||||||,TA|splice_region_variant&intron_variant|LOW|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene|5/6|n.532-6dupT||||||,TA|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|4/9|c.291+3970dupT||||||,TA|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|4/8|c.291+3970dupT||||||,TA|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|4/9|n.599+3970dupT||||||,TA|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|6/11|n.1963+3970dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2936;p3_1000G_AF=0.586262;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=19671;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.667;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243567;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,22:22:66:609,66,0
chr2	262490	rs36216557	G	T	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.254;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.883;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36216557;dbSNPBuildID=126;ANN=T|sequence_feature|LOW|SH3YL1|SH3YL1|antibody-mapping:heterologous_protein_expression_evidence|NM_015677.3|protein_coding|1/9|c.1+1494C>A||||||,T|sequence_feature|LOW|SH3YL1|SH3YL1|antibody-mapping:heterologous_protein_expression_evidence|NM_001159597.2|protein_coding|1/8|c.1+1494C>A||||||,T|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding||c.-2475G>T|||||2379|,T|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene||n.-1360C>A|||||1360|,T|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_001040649.2|protein_coding||c.-2475G>T|||||2379|,T|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_007099.3|protein_coding||c.-2475G>T|||||2379|,T|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene||n.-2379G>T|||||2379|,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|1/9|c.1+1494C>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|1/10|n.156+141C>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|1/8|c.1+1494C>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|1/9|n.309+1594C>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|1/10|c.-422+2292C>A||||||,T|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene|2/6|n.241+141C>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|2/12|n.338C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=82;p3_1000G_AF=0.0163738;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20232;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=262490;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:170,0,415
chr2	262553	rs7596678	T	C	976.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7596678;dbSNPBuildID=116;ANN=C|sequence_feature|LOW|SH3YL1|SH3YL1|antibody-mapping:heterologous_protein_expression_evidence|NM_015677.3|protein_coding|1/9|c.1+1431A>G||||||,C|sequence_feature|LOW|SH3YL1|SH3YL1|antibody-mapping:heterologous_protein_expression_evidence|NM_001159597.2|protein_coding|1/8|c.1+1431A>G||||||,C|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding||c.-2412T>C|||||2316|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene||n.-1423A>G|||||1423|,C|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_001040649.2|protein_coding||c.-2412T>C|||||2316|,C|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_007099.3|protein_coding||c.-2412T>C|||||2316|,C|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene||n.-2316T>C|||||2316|,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|1/9|c.1+1431A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene|1/10|n.156+78A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|1/8|c.1+1431A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|1/9|n.309+1531A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|1/10|c.-422+2229A>G||||||,C|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene|2/6|n.241+78A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|2/12|n.275A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3068;p3_1000G_AF=0.61262;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=18193;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.6889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=262553;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1005,96,0
chr2	264019	rs7595075	C	A	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.146;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.121;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7595075;dbSNPBuildID=116;ANN=A|5_prime_UTR_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding|1/10|c.-35G>T|||||35|,A|5_prime_UTR_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding|1/9|c.-35G>T|||||35|,A|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding||c.-946C>A|||||850|,A|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene||n.-2889G>T|||||2889|,A|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene||n.-1233G>T|||||1233|,A|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_001040649.2|protein_coding||c.-946C>A|||||850|,A|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_007099.3|protein_coding||c.-946C>A|||||850|,A|upstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene||n.-850C>A|||||850|,A|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene|1/9|n.309+65G>T||||||,A|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene|1/11|n.41+684G>T||||||,A|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding|1/10|c.-422+763G>T||||||,A|intron_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene|1/6|n.85+763G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1324;p3_1000G_AF=0.264377;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=11025;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=264019;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA_AC=312,1054;ESP6500_AA_GTC=39,234,410;ESP6500_CDS_SIZES=NM_015677.2:1029,NM_001159597.1:972;ESP6500_CG=2.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=1064,2100;ESP6500_EA_GTC=195,674,713;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015677.2:utr-5,NM_001159597.1:utr-5;ESP6500_GL=SH3YL1;ESP6500_GRCh38_POSITION=2:264019;ESP6500_GTC=234,908,1123;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015677.2:c.-35G>T,NM_001159597.1:c.-35G>T;ESP6500_MAF=33.6283,22.8404,30.3753;ESP6500_TAC=1376,3154	GT:AD:DP:GQ:PL	0/1:13,9:22:99:222,0,343
chr2	264895	rs4854300	G	C	1419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.63;SOR=2.476;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4854300;dbSNPBuildID=111;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ACP1|ACP1|transcript|NM_004300.3|protein_coding|1/6|c.-70G>C||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ACP1|ACP1|transcript|NM_001040649.2|protein_coding|1/3|c.-70G>C||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ACP1|ACP1|transcript|NM_007099.3|protein_coding|1/6|c.-70G>C||||||,C|5_prime_UTR_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding|1/6|c.-70G>C|||||70|,C|5_prime_UTR_variant|MODIFIER|ACP1|ACP1|transcript|NM_001040649.2|protein_coding|1/3|c.-70G>C|||||70|,C|5_prime_UTR_variant|MODIFIER|ACP1|ACP1|transcript|NM_007099.3|protein_coding|1/6|c.-70G>C|||||70|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_015677.3|protein_coding||c.-911C>G|||||798|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104227.1|pseudogene||n.-3765C>G|||||3765|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104226.1|pseudogene||n.-2109C>G|||||2109|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001159597.2|protein_coding||c.-911C>G|||||798|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene||n.-503C>G|||||503|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene||n.-152C>G|||||152|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding||c.-22095C>G|||||29|,C|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene||n.-29C>G|||||29|,C|non_coding_transcript_exon_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene|1/7|n.27G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=8956;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=264895;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1381,3;ESP6500_AA_GTC=689,3,0;ESP6500_CDS_SIZES=NM_007099.3:477,NM_004300.3:477,NM_001040649.2:339;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=42;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007099.3:utr-5,NM_004300.3:utr-5,NM_001040649.2:utr-5;ESP6500_GL=ACP1;ESP6500_GRCh38_POSITION=2:264895;ESP6500_GTC=2280,3,0;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007099.3:c.-70G>C,NM_004300.3:c.-70G>C,NM_001040649.2:c.-70G>C;ESP6500_MAF=0.0,0.2168,0.0657;ESP6500_TAC=4563,3	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1448,123,0
chr2	269352	rs6755722	G	A	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.176;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0.286;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6755722;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104225.1|pseudogene||n.-4960C>T|||||4960|,A|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104223.1|pseudogene||n.-4609C>T|||||4609|,A|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NM_001282682.1|protein_coding||c.-26552C>T|||||4486|,A|upstream_gene_variant|MODIFIER|SH3YL1|SH3YL1|transcript|NR_104224.1|pseudogene||n.-4486C>T|||||4486|,A|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding|1/5|c.44-2514G>A||||||,A|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_001040649.2|protein_coding|1/2|c.44-2514G>A||||||,A|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_007099.3|protein_coding|1/5|c.44-2514G>A||||||,A|intron_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene|1/6|n.140-2514G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1585;p3_1000G_AF=0.316494;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=18841;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.3529;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=269352;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,11:29:99:231,0,435
chr2	271797	rs59937473	G	A	193.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.53;ReadPosRankSum=0.508;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59937473;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding|1/5|c.44-69G>A||||||,A|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_001040649.2|protein_coding|1/2|c.44-69G>A||||||,A|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_007099.3|protein_coding|1/5|c.44-69G>A||||||,A|intron_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene|1/6|n.140-69G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1424;p3_1000G_AF=0.284345;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=15324;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=271797;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:22:222,0,22
chr2	272203	rs11553746	C	T	1402.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.292;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=8.102;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=1.18;SOR=1.129;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11553746;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|ACP1|ACP1|transcript|NM_001040649.2|protein_coding|3/3|c.284C>T|p.Thr95Ile|380/658|284/339|95/112||,T|synonymous_variant|LOW|ACP1|ACP1|transcript|NM_007099.3|protein_coding|3/6|c.129C>T|p.Asp43Asp|225/1551|129/477|43/158||,T|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding|3/5|c.231+53C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene|4/7|n.254C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1219;p3_1000G_AF=0.243411;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=16562;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=272203;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=749,3657;ESP6500_AA_AGE=306.3+/-289.4;ESP6500_AA_GTC=63,623,1517;ESP6500_CDS_SIZES=NM_007099.3:477,NM_004300.3:477,NM_001040649.2:339;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=161;ESP6500_EA_AC=2963,5637;ESP6500_EA_AGE=459.5+/-364.9;ESP6500_EA_GTC=486,1991,1823;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007099.3:coding-synonymous,NM_004300.3:intron,NM_001040649.2:missense;ESP6500_GL=ACP1;ESP6500_GRCh38_POSITION=2:272203;ESP6500_GS=.,.,89;ESP6500_GTC=549,2614,3340;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007099.3:c.129C>T,NM_004300.3:c.231+53C>T,NM_001040649.2:c.284C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007099.3:p.(D43),.,NM_001040649.2:p.(T95I);ESP6500_MAF=34.4535,16.9995,28.5407;ESP6500_PH=.,.,probably-damaging:0.999;ESP6500_TAC=3712,9294	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1431,0,1329
chr2	276942	rs7573495	A	G	235.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.57;ReadPosRankSum=-0.385;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7573495;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|FAM150B|FAM150B|transcript|NM_001002919.2|protein_coding||c.*3205T>C|||||2619|,G|downstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_001040649.2|protein_coding||c.*4684A>G|||||4461|,G|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding|4/5|c.294-38A>G||||||,G|intron_variant|MODIFIER|ACP1|ACP1|transcript|NM_007099.3|protein_coding|4/5|c.294-38A>G||||||,G|intron_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene|5/6|n.419-38A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1607;p3_1000G_AF=0.320887;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=17633;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.3559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=276942;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=858,3440;ESP6500_AA_GTC=90,678,1381;ESP6500_CDS_SIZES=NM_007099.3:477,NM_004300.3:477;ESP6500_CG=-2.0;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=22;ESP6500_EA_AC=2904,5662;ESP6500_EA_GTC=491,1922,1870;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007099.3:intron,NM_004300.3:intron;ESP6500_GL=ACP1;ESP6500_GRCh38_POSITION=2:276942;ESP6500_GTC=581,2600,3251;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007099.3:c.294-38A>G,NM_004300.3:c.294-38A>G;ESP6500_MAF=33.9015,19.9628,29.2444;ESP6500_TAC=3762,9102	GT:AD:DP:GQ:PL	0/1:1,9:10:6:263,0,6
chr2	277003	rs79716074;13685	A	G	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.761;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=-0.054;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79716074;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|ACP1|ACP1|transcript|NM_004300.3|protein_coding|5/6|c.317A>G|p.Gln106Arg|413/1551|317/477|106/158||,G|missense_variant|MODERATE|ACP1|ACP1|transcript|NM_007099.3|protein_coding|5/6|c.317A>G|p.Gln106Arg|413/1551|317/477|106/158||,G|downstream_gene_variant|MODIFIER|FAM150B|FAM150B|transcript|NM_001002919.2|protein_coding||c.*3144T>C|||||2558|,G|downstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_001040649.2|protein_coding||c.*4745A>G|||||4522|,G|non_coding_transcript_exon_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene|6/7|n.442A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1323;p3_1000G_AF=0.264177;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=18004;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.335;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=277003;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=983,3417;ESP6500_AA_AGE=336.0+/-304.2;ESP6500_AA_GTC=107,769,1324;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...52&amp%3Brs...79716074|http://omim.org/entry/171500#0001;ESP6500_CDS_SIZES=NM_007099.3:477,NM_004300.3:477;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=54;ESP6500_EA_AC=2959,5631;ESP6500_EA_AGE=442.4+/-360.1;ESP6500_EA_GTC=483,1993,1819;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007099.3:missense,NM_004300.3:missense;ESP6500_GL=ACP1;ESP6500_GRCh38_POSITION=2:277003;ESP6500_GS=43,43;ESP6500_GTC=590,2762,3143;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007099.3:c.317A>G,NM_004300.3:c.317A>G;ESP6500_HGVS_PROTEIN_VAR=NM_007099.3:p.(Q106R),NM_004300.3:p.(Q106R);ESP6500_MAF=34.447,22.3409,30.3464;ESP6500_PH=benign:0.003,benign:0.003;ESP6500_TAC=3942,9048;CLINVAR_AF_ESP=0.3035;CLINVAR_AF_EXAC=0.31664;CLINVAR_AF_TGP=0.2642;CLINVAR_ALLELEID=28724;CLINVAR_CLNDN=ACID_PHOSPHATASE_1,_SOLUBLE,_A/B_POLYMORPHISM_OF;CLINVAR_CLNHGVS=NC_000002.12:g.277003A>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:171500.0001|UniProtKB_(protein):P24666#VAR_006171;CLINVAR_GENEINFO=ACP1:52;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=79716074	GT:AD:DP:GQ:PL	0/1:18,10:28:99:234,0,515
chr2	283231	rs368562757;rs3841092;rs386389377;rs386389378	A	AT	297.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.07;SOR=1.27;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3841092,rs368562757;dbSNPBuildID=138,138,138,138;ANN=AT|downstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_004300.3|protein_coding||c.*5927_*5928insT|||||4950|,AT|downstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NM_007099.3|protein_coding||c.*5927_*5928insT|||||4950|,AT|downstream_gene_variant|MODIFIER|ACP1|ACP1|transcript|NR_024080.1|pseudogene||n.*4949_*4950insT|||||4950|,AT|intron_variant|MODIFIER|FAM150B|FAM150B|transcript|NM_001002919.2|protein_coding|4/5|c.389-57dupA||||||;p3_1000G_AA=?|TTTTTTT|TTTTTTTT|unsure;p3_1000G_AC=4609;p3_1000G_AF=0.920327;p3_1000G_AFR_AF=0.9796;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=20476;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=283231;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:335,33,0
chr2	675831	rs2293084	G	T	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=0.718;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293084;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TMEM18|TMEM18|transcript|NM_152834.2|protein_coding|1/4|c.58-201C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2035;p3_1000G_AF=0.40635;p3_1000G_AFR_AF=0.2269;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=21479;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.4563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=675831;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:59:234,0,59
chr2	676177	rs2293083	C	G	1263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.676;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.271;SOR=0.687;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293083;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMEM18|TMEM18|transcript|NM_152834.2|protein_coding|1/4|c.58-547G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3410;p3_1000G_AF=0.680911;p3_1000G_AFR_AF=0.5038;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=16242;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=676177;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1292,0,1068
chr2	676457	rs2293082	G	C	729.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.9;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.049;SOR=0.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293082;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TMEM18|TMEM18|transcript|NM_152834.2|protein_coding|1/4|c.58-827C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=3940;p3_1000G_AF=0.786741;p3_1000G_AFR_AF=0.6929;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=13245;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.8569;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=676457;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,19:43:99:0|1:676457_G_C:758,0,2298
chr2	676478	rs3215297	T	TGTAA	948.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.673;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.551;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.353;SOR=0.346;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3215297;dbSNPBuildID=106;ANN=TGTAA|intron_variant|MODIFIER|TMEM18|TMEM18|transcript|NM_152834.2|protein_coding|1/4|c.57+810_57+811insTTAC||||||;p3_1000G_AC=3973;p3_1000G_AF=0.793331;p3_1000G_AFR_AF=0.7481;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=13910;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=676478;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,25:60:99:0|1:676457_G_C:986,0,2880
chr2	677213	rs3749138	G	A	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.341;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749138;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TMEM18|TMEM18|transcript|NM_152834.2|protein_coding|1/4|c.57+76C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4028;p3_1000G_AF=0.804313;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=9711;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=677213;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:207,0,173
chr2	688030	rs6743831	A	G	1216.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.02;SOR=1.04;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6743831;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|TMEM18-LINC01115|TMEM18-LINC01115|intergenic_region|TMEM18-LINC01115|||n.688030A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4982;p3_1000G_AF=0.994808;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20496;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=688030;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1245,114,0
chr2	1083444	rs4971429	G	A	1546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=2.115;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4971429;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|1/16|c.73-74G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2743;p3_1000G_AF=0.547724;p3_1000G_AFR_AF=0.4319;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=13906;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1079130;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:1083444_G_A:1575,105,0
chr2	1083446	rs4971430	G	A	1546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.24;SOR=2.115;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4971430;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|1/16|c.73-72G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2745;p3_1000G_AF=0.548123;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=14012;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1079132;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:1083444_G_A:1575,105,0
chr2	1083457	rs4971431	A	G	1323.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=2.073;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4971431;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|1/16|c.73-61A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3792;p3_1000G_AF=0.757188;p3_1000G_AFR_AF=0.6445;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=13823;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1079143;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1352,114,0
chr2	1083634	rs4971432	C	T	1248.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4971432;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|2/17|c.189C>T|p.Gly63Gly|318/1887|189/1620|63/539||;p3_1000G_AA=C|||;p3_1000G_AC=3351;p3_1000G_AF=0.669129;p3_1000G_AFR_AF=0.5628;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=17712;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.8022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1079320;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2443,1547;ESP6500_AA_GTC=749,945,301;ESP6500_CDS_SIZES=NM_018968.3:1620;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=112;ESP6500_EA_AC=6498,1840;ESP6500_EA_GTC=2540,1418,211;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018968.3:coding-synonymous;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1083634;ESP6500_GTC=3289,2363,512;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.189C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018968.3:p.(G63);ESP6500_MAF=22.0676,38.7719,27.474;ESP6500_TAC=8941,3387	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1277,120,0
chr2	1137681	rs79642551	G	A	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.647;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=2.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.805;SOR=0.553;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79642551;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|5/16|c.369+16G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=394;p3_1000G_AF=0.0786741;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=22717;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.1262;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1133367;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=172,3726;ESP6500_AA_GTC=1,170,1778;ESP6500_CDS_SIZES=NM_018968.3:1620;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=125;ESP6500_EA_AC=1048,7262;ESP6500_EA_GTC=65,918,3172;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018968.3:intron;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1137681;ESP6500_GTC=66,1088,4950;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.369+16G>A;ESP6500_MAF=12.6113,4.4125,9.9934;ESP6500_TAC=1220,10988	GT:AD:DP:GQ:PL	0/1:17,19:36:99:494,0,407
chr2	1173070	rs4597564	G	A	1334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.02;SOR=1.203;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4597564;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|7/16|c.500-22G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1865;p3_1000G_AF=0.372404;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=17190;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.2853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1168756;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1001,3047;ESP6500_AA_GTC=120,761,1143;ESP6500_CDS_SIZES=NM_018968.3:1620;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=91;ESP6500_EA_AC=2362,6020;ESP6500_EA_GTC=326,1710,2155;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018968.3:intron;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1173070;ESP6500_GTC=446,2471,3298;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.500-22G>A;ESP6500_MAF=28.1794,24.7283,27.0555;ESP6500_TAC=3363,9067	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1363,138,0
chr2	1173296	rs7560649	T	A	218.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.35;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7560649;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|8/16|c.591+113T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1997;p3_1000G_AF=0.398762;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=18422;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1168982;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:247,24,0
chr2	1208982	rs10706855;rs796224082	CT	C	312.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=4.977;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10706855;dbSNPBuildID=137,146;ANN=C|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|8/16|c.592-115delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTT|TTTTTT|TTTTT|insertion;p3_1000G_AC=1822;p3_1000G_AF=0.363818;p3_1000G_AFR_AF=0.1778;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=19793;p3_1000G_EAS_AF=0.6389;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1204668;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:350,33,0
chr2	1237820	rs146197111	C	T	448.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs146197111;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|9/16|c.720-68C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17275;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1241592;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:477,39,0
chr2	1237851	rs28541377	G	A	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.077;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.048;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.866;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28541377;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|9/16|c.720-37G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1365;p3_1000G_AF=0.272564;p3_1000G_AFR_AF=0.4592;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=16215;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1241623;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2372;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1653,2697;ESP6500_AA_GTC=333,987,855;ESP6500_CDS_SIZES=NM_018968.3:1620;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=19;ESP6500_EA_AC=943,7545;ESP6500_EA_GTC=71,801,3372;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018968.3:intron;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1237851;ESP6500_GTC=404,1788,4227;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.720-37G>A;ESP6500_MAF=11.1098,38.0,20.2212;ESP6500_TAC=2596,10242	GT:AD:DP:GQ:PL	0/1:12,10:22:99:270,0,358
chr2	1238133	rs28583446	T	C	471.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.41;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.21;ReadPosRankSum=0.844;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28583446;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|10/16|c.849+116T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1526;p3_1000G_AF=0.304712;p3_1000G_AFR_AF=0.5756;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=21084;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.1074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1241905;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,13:18:99:500,0,153
chr2	1239675	rs58094864	A	G	924.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.84;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-2.021;SOR=0.856;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58094864;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|10/16|c.850-63A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1371;p3_1000G_AF=0.273762;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=18307;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1243447;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=563,821;ESP6500_AA_GTC=109,345,238;ESP6500_CDS_SIZES=NM_018968.3:1620;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=174;ESP6500_EA_AC=360,2822;ESP6500_EA_GTC=23,314,1254;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018968.3:intron;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1239675;ESP6500_GTC=132,659,1492;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.850-63A>G;ESP6500_MAF=11.3136,40.6792,20.2146;ESP6500_TAC=923,3643	GT:AD:DP:GQ:PL	0/1:36,36:72:99:953,0,885
chr2	1247315	rs58278307;~rs66853772	A	AAAGGTT	250.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.44;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs58278307;dbSNPBuildID=129;ANN=AAAGGTT|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|11/16|c.889-12_889-11insAAGGTT||||||;ESP6500_AA_AC=329,1238,10,2231;ESP6500_AA_GTC=30,141,0,128,212,0,673,5,0,715;ESP6500_CDS_SIZES=NM_018968.3:1620,NM_018968.3:1620,NM_018968.3:1620;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=36;ESP6500_EA_AC=294,1627,11,6090;ESP6500_EA_GTC=14,89,1,176,152,0,1234,5,0,2340;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018968.3:intron,NM_018968.3:intron,NM_018968.3:intron;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1247315;ESP6500_GTC=44,230,1,304,364,0,1907,10,0,3055;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.889-11_889-9del3,NM_018968.3:c.889-12_889-11insAAAGGTTCCC,NM_018968.3:c.889-12_889-11insAAAGGTTTCCC;ESP6500_MAF=24.0838,41.4128,29.6619;ESP6500_TAC=623,2865,21,8321	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,7:23:99:0|1:1247315_A_AAAGGTT:288,0,1694
chr2	1247316	rs55953201	C	T	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.448;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.796;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55953201;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|11/16|c.889-11C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,8:24:99:0|1:1247315_A_AAAGGTT:288,0,1694
chr2	1259233	rs9330340	A	G	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=0.136;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9330340;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|12/16|c.1006-137A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1767;p3_1000G_AF=0.352835;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=18980;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.2545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1263005;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:32:195,0,32
chr2	1259525	rs9330341	G	A	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.494;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.545;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9330341;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|13/16|c.1077+84G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1387;p3_1000G_AF=0.276957;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=19223;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1263297;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:176,0,167
chr2	1267338	rs28626835	G	T	744.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.917;SOR=0.563;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28626835;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|13/16|c.1078-27G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1186;p3_1000G_AF=0.236821;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=18704;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1271110;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1065,2931;ESP6500_AA_GTC=154,757,1087;ESP6500_CDS_SIZES=NM_018968.3:1620;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=41;ESP6500_EA_AC=1071,7315;ESP6500_EA_GTC=83,905,3205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018968.3:intron;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1267338;ESP6500_GTC=237,1662,4292;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.1078-27G>T;ESP6500_MAF=12.7713,26.6517,17.2508;ESP6500_TAC=2136,10246	GT:AD:DP:GQ:PL	0/1:22,26:48:99:773,0,602
chr2	1267458	rs13023962	A	G	1307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.13;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=1.489;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=2.03;SOR=0.529;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13023962;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|14/17|c.1171A>G|p.Ile391Val|1300/1887|1171/1620|391/539||;p3_1000G_AA=G|||;p3_1000G_AC=1803;p3_1000G_AF=0.360024;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=17276;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1271230;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1707,2159;ESP6500_AA_GTC=401,905,627;ESP6500_CDS_SIZES=NM_018968.3:1620;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=53;ESP6500_EA_AC=1994,6276;ESP6500_EA_GTC=238,1518,2379;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018968.3:missense;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1267458;ESP6500_GS=29;ESP6500_GTC=639,2423,3006;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.1171A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018968.3:p.(I391V);ESP6500_MAF=24.1112,44.1542,30.496;ESP6500_PH=benign:0.001;ESP6500_TAC=3701,8435	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1336,0,1755
chr2	1267654	rs12997053	C	T	1472.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.089;ClippingRankSum=0;DP=109;ExcessHet=3.0103;FS=0.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.273;SOR=0.812;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36187122;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|14/16|c.1284+83C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1821;p3_1000G_AF=0.363618;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=20494;p3_1000G_EAS_AF=0.3333;p3_1000G_EUR_AF=0.2565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1271426;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1501,0,1298
chr2	1267747	rs201748886	TA	T	754.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.896;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-1.024;SOR=0.588;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201748886;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|14/16|c.1284+179delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AA|AAA|AA|insertion;p3_1000G_AC=1819;p3_1000G_AF=0.363219;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=20957;p3_1000G_EAS_AF=0.3333;p3_1000G_EUR_AF=0.2565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1271519;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,21:51:99:0|1:1267747_TA_T:792,0,1672
chr2	1267751	rs374135801	T	C	762.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.89;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.814;SOR=0.588;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374135801;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|14/16|c.1284+180T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1821;p3_1000G_AF=0.363618;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=19892;p3_1000G_EAS_AF=0.3333;p3_1000G_EUR_AF=0.2565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1271523;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,21:51:99:0|1:1267747_TA_T:791,0,1672
chr2	1267772	rs36193973	A	G	429.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.445;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.374;SOR=0.439;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36193973;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|14/16|c.1284+201A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1382;p3_1000G_AF=0.275958;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=19113;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1271544;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,16:41:99:458,0,746
chr2	1316120	rs4927634	A	T	24.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.1;ReadPosRankSum=-0.366;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4927634;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|15/16|c.1378-145A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2528;p3_1000G_AF=0.504792;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=18190;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1319892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:53:53,0,192
chr2	1316371	rs4927635	C	T	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.424;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.324;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4927635;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|SNTG2|SNTG2|transcript|NM_018968.3|protein_coding|16/17|c.1484C>T|p.Thr495Met|1613/1887|1484/1620|495/539||;p3_1000G_AA=C|||;p3_1000G_AC=2531;p3_1000G_AF=0.505391;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=16019;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1320143;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=622,762;ESP6500_AA_GTC=157,308,227;ESP6500_CDS_SIZES=NM_018968.3:1620;ESP6500_CG=-0.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=89;ESP6500_EA_AC=1652,1530;ESP6500_EA_GTC=426,800,365;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018968.3:missense;ESP6500_GL=SNTG2;ESP6500_GRCh38_POSITION=2:1316371;ESP6500_GS=81;ESP6500_GTC=583,1108,592;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018968.3:c.1484C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018968.3:p.(T495M);ESP6500_MAF=48.083,44.9422,49.8029;ESP6500_PH=benign:0.042;ESP6500_TAC=2274,2292	GT:AD:DP:GQ:PL	0/1:20,15:35:99:344,0,467
chr2	1414420	rs9678281;256607	C	G	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=1.96;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9678281;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|TPO|TPO|transcript|NM_000547.5|protein_coding|2/17|c.12C>G|p.Leu4Leu|103/3146|12/2802|4/933||,G|synonymous_variant|LOW|TPO|TPO|transcript|NM_001206744.1|protein_coding|2/17|c.12C>G|p.Leu4Leu|98/3141|12/2802|4/933||,G|synonymous_variant|LOW|TPO|TPO|transcript|NM_001206745.1|protein_coding|2/16|c.12C>G|p.Leu4Leu|98/2970|12/2631|4/876||,G|synonymous_variant|LOW|TPO|TPO|transcript|NM_175719.3|protein_coding|2/16|c.12C>G|p.Leu4Leu|103/2975|12/2631|4/876||,G|synonymous_variant|LOW|TPO|TPO|transcript|NM_175721.3|protein_coding|1/15|c.12C>G|p.Leu4Leu|13/2924|12/2670|4/889||,G|synonymous_variant|LOW|TPO|TPO|transcript|NM_175722.3|protein_coding|1/15|c.12C>G|p.Leu4Leu|13/2537|12/2283|4/760||;p3_1000G_AA=C|||;p3_1000G_AC=1561;p3_1000G_AF=0.311701;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=16931;p3_1000G_EAS_AF=0.2361;p3_1000G_EUR_AF=0.3887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1418192;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1280,3126;ESP6500_AA_AGE=431.4+/-342.9;ESP6500_AA_GTC=186,908,1109;ESP6500_CDS_SIZES=NM_175722.3:2283,NM_175721.3:2670,NM_175719.3:2631,NM_001206745.1:2631,NM_001206744.1:2802,NM_000547.5:2802;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=74;ESP6500_EA_AC=3341,5259;ESP6500_EA_AGE=494.8+/-373.9;ESP6500_EA_GTC=662,2017,1621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175722.3:coding-synonymous,NM_175721.3:coding-synonymous,NM_175719.3:coding-synonymous,NM_001206745.1:coding-synonymous,NM_001206744.1:coding-synonymous,NM_000547.5:coding-synonymous;ESP6500_GL=TPO;ESP6500_GRCh38_POSITION=2:1414420;ESP6500_GTC=848,2925,2730;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_175722.3:c.12C>G,NM_175721.3:c.12C>G,NM_175719.3:c.12C>G,NM_001206745.1:c.12C>G,NM_001206744.1:c.12C>G,NM_000547.5:c.12C>G;ESP6500_HGVS_PROTEIN_VAR=NM_175722.3:p.(L4),NM_175721.3:p.(L4),NM_175719.3:p.(L4),NM_001206745.1:p.(L4),NM_001206744.1:p.(L4),NM_000547.5:p.(L4);ESP6500_MAF=38.8488,29.0513,35.5298;ESP6500_TAC=4621,8385;CLINVAR_AF_ESP=0.3553;CLINVAR_AF_EXAC=0.36911;CLINVAR_AF_TGP=0.3117;CLINVAR_ALLELEID=250164;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED_CT:190268003|MedGen:C1291299,OMIM:274500,SNOMED_CT:124204003|MedGen:CN169374;CLINVAR_CLNDN=Congenital_hypothyroidism|Deficiency_of_iodide_peroxidase|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.1414420C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:23860;CLINVAR_GENEINFO=TPO:7173;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9678281	GT:AD:DP:GQ:PL	0/1:9,14:23:99:403,0,195
chr2	1433638	rs4927578	C	T	343.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4927578;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_000547.5|protein_coding|4/16|c.349+31C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_001206744.1|protein_coding|4/16|c.349+31C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_001206745.1|protein_coding|4/15|c.349+31C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175719.3|protein_coding|4/15|c.349+31C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175721.3|protein_coding|3/14|c.349+31C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175722.3|protein_coding|3/14|c.349+31C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2190;p3_1000G_AF=0.4373;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=16080;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.5547;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1437410;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1293,3113;ESP6500_AA_AGE=429.7+/-342.3;ESP6500_AA_GTC=192,909,1102;ESP6500_CDS_SIZES=NM_175722.3:2283,NM_175721.3:2670,NM_175719.3:2631,NM_001206745.1:2631,NM_001206744.1:2802,NM_000547.5:2802;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=49;ESP6500_EA_AC=5151,3447;ESP6500_EA_AGE=622.3+/-397.3;ESP6500_EA_GTC=1576,1999,724;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175722.3:intron,NM_175721.3:intron,NM_175719.3:intron,NM_001206745.1:intron,NM_001206744.1:intron,NM_000547.5:intron;ESP6500_GL=TPO;ESP6500_GRCh38_POSITION=2:1433638;ESP6500_GTC=1768,2908,1826;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_175722.3:c.349+31C>T,NM_175721.3:c.349+31C>T,NM_175719.3:c.349+31C>T,NM_001206745.1:c.349+31C>T,NM_001206744.1:c.349+31C>T,NM_000547.5:c.349+31C>T;ESP6500_MAF=40.0907,29.3463,49.554;ESP6500_TAC=6444,6560	GT:AD:DP:GQ:PL	1/1:0,11:11:33:372,33,0
chr2	1438779	rs34191654;rs397869413;rs397873212;rs869281852;rs879214807	AT	A	51.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=1.43;SOR=1.23;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34191654;dbSNPBuildID=147,147,138,138,137;ANN=A|intron_variant|MODIFIER|TPO|TPO|transcript|NM_000547.5|protein_coding|5/16|c.482+2412delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TPO|TPO|transcript|NM_001206744.1|protein_coding|5/16|c.482+2412delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TPO|TPO|transcript|NM_001206745.1|protein_coding|5/15|c.482+2412delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175719.3|protein_coding|5/15|c.482+2412delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175721.3|protein_coding|4/14|c.482+2412delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175722.3|protein_coding|4/14|c.482+2412delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:18,6:24:89:89,0,329
chr2	1456034	rs4927610	A	G	1676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=2.97;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4927610;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|TPO|TPO|transcript|NM_000547.5|protein_coding|6/16|c.613-42A>G||||||,G|intron_variant|MODIFIER|TPO|TPO|transcript|NM_001206744.1|protein_coding|6/16|c.613-42A>G||||||,G|intron_variant|MODIFIER|TPO|TPO|transcript|NM_001206745.1|protein_coding|6/15|c.613-42A>G||||||,G|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175719.3|protein_coding|6/15|c.613-42A>G||||||,G|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175721.3|protein_coding|5/14|c.613-42A>G||||||,G|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175722.3|protein_coding|5/14|c.613-42A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4684;p3_1000G_AF=0.935304;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=20060;p3_1000G_EAS_AF=0.9613;p3_1000G_EUR_AF=0.9344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1459806;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3944,458;ESP6500_AA_AGE=208.2+/-229.3;ESP6500_AA_GTC=1774,396,31;ESP6500_CDS_SIZES=NM_175722.3:2283,NM_175721.3:2670,NM_175719.3:2631,NM_001206745.1:2631,NM_001206744.1:2802,NM_000547.5:2802;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=40;ESP6500_EA_AC=8125,473;ESP6500_EA_AGE=133.0+/-190.5;ESP6500_EA_GTC=3843,439,17;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175722.3:intron,NM_175721.3:intron,NM_175719.3:intron,NM_001206745.1:intron,NM_001206744.1:intron,NM_000547.5:intron;ESP6500_GL=TPO;ESP6500_GRCh38_POSITION=2:1456034;ESP6500_GTC=5617,835,48;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175722.3:c.613-42A>G,NM_175721.3:c.613-42A>G,NM_175719.3:c.613-42A>G,NM_001206745.1:c.613-42A>G,NM_001206744.1:c.613-42A>G,NM_000547.5:c.613-42A>G;ESP6500_MAF=5.5013,10.4044,7.1615;ESP6500_TAC=12069,931	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1705,153,0
chr2	1477383	rs2280132;256605	G	T	1664.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=1.036;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2280132;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TPO|TPO|transcript|NM_000547.5|protein_coding|8/17|c.1117G>T|p.Ala373Ser|1208/3146|1117/2802|373/933||,T|missense_variant|MODERATE|TPO|TPO|transcript|NM_001206744.1|protein_coding|8/17|c.1117G>T|p.Ala373Ser|1203/3141|1117/2802|373/933||,T|missense_variant|MODERATE|TPO|TPO|transcript|NM_001206745.1|protein_coding|8/16|c.1117G>T|p.Ala373Ser|1203/2970|1117/2631|373/876||,T|missense_variant|MODERATE|TPO|TPO|transcript|NM_175719.3|protein_coding|8/16|c.1117G>T|p.Ala373Ser|1208/2975|1117/2631|373/876||,T|missense_variant|MODERATE|TPO|TPO|transcript|NM_175721.3|protein_coding|7/15|c.1117G>T|p.Ala373Ser|1118/2924|1117/2670|373/889||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175722.3|protein_coding|6/14|c.820-7213G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2044;p3_1000G_AF=0.408147;p3_1000G_AFR_AF=0.3177;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=9068;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.4463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1481155;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=871,1881;ESP6500_AA_GTC=188,495,693;ESP6500_CDS_SIZES=NM_175722.3:2283,NM_175721.3:2670,NM_175719.3:2631,NM_001206745.1:2631,NM_001206744.1:2802,NM_000547.5:2802;ESP6500_CG=-1.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=2;ESP6500_EA_AC=2717,3349;ESP6500_EA_GTC=737,1243,1053;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175722.3:intron,NM_175721.3:missense,NM_175719.3:missense,NM_001206745.1:missense,NM_001206744.1:missense,NM_000547.5:missense;ESP6500_GL=TPO;ESP6500_GRCh38_POSITION=2:1477383;ESP6500_GS=.,99,99,99,99,99;ESP6500_GTC=925,1738,1746;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_175722.3:c.820-7213G>T,NM_175721.3:c.1117G>T,NM_175719.3:c.1117G>T,NM_001206745.1:c.1117G>T,NM_001206744.1:c.1117G>T,NM_000547.5:c.1117G>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_175721.3:p.(A373S),NM_175719.3:p.(A373S),NM_001206745.1:p.(A373S),NM_001206744.1:p.(A373S),NM_000547.5:p.(A373S);ESP6500_MAF=44.7906,31.6497,40.6895;ESP6500_PH=.,benign:0.005,benign:0.005,benign:0.005,benign:0.005,benign:0.005;ESP6500_TAC=3588,5230;CLINVAR_AF_ESP=0.4069;CLINVAR_AF_EXAC=0.45782;CLINVAR_AF_TGP=0.4082;CLINVAR_ALLELEID=250167;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED_CT:190268003|MedGen:C1291299,OMIM:274500,SNOMED_CT:124204003|MedGen:CN169374;CLINVAR_CLNDN=Congenital_hypothyroidism|Deficiency_of_iodide_peroxidase|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.1477383G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:23868|UniProtKB_(protein):P07202#VAR_006058;CLINVAR_GENEINFO=TPO:7173;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2280132	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1693,156,0
chr2	1477459	rs2175977;256606	G	C	1428.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=0.735;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2175977;dbSNPBuildID=96;ANN=C|missense_variant|MODERATE|TPO|TPO|transcript|NM_000547.5|protein_coding|8/17|c.1193G>C|p.Ser398Thr|1284/3146|1193/2802|398/933||,C|missense_variant|MODERATE|TPO|TPO|transcript|NM_001206744.1|protein_coding|8/17|c.1193G>C|p.Ser398Thr|1279/3141|1193/2802|398/933||,C|missense_variant|MODERATE|TPO|TPO|transcript|NM_001206745.1|protein_coding|8/16|c.1193G>C|p.Ser398Thr|1279/2970|1193/2631|398/876||,C|missense_variant|MODERATE|TPO|TPO|transcript|NM_175719.3|protein_coding|8/16|c.1193G>C|p.Ser398Thr|1284/2975|1193/2631|398/876||,C|missense_variant|MODERATE|TPO|TPO|transcript|NM_175721.3|protein_coding|7/15|c.1193G>C|p.Ser398Thr|1194/2924|1193/2670|398/889||,C|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175722.3|protein_coding|6/14|c.820-7137G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3557;p3_1000G_AF=0.710264;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=9157;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1481231;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2498,394;ESP6500_AA_GTC=1072,354,20;ESP6500_CDS_SIZES=NM_175722.3:2283,NM_175721.3:2670,NM_175719.3:2631,NM_001206745.1:2631,NM_001206744.1:2802,NM_000547.5:2802;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=2;ESP6500_EA_AC=4199,1477;ESP6500_EA_GTC=1511,1177,150;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175722.3:intron,NM_175721.3:missense,NM_175719.3:missense,NM_001206745.1:missense,NM_001206744.1:missense,NM_000547.5:missense;ESP6500_GL=TPO;ESP6500_GRCh38_POSITION=2:1477459;ESP6500_GS=.,58,58,58,58,58;ESP6500_GTC=2583,1531,170;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_175722.3:c.820-7137G>C,NM_175721.3:c.1193G>C,NM_175719.3:c.1193G>C,NM_001206745.1:c.1193G>C,NM_001206744.1:c.1193G>C,NM_000547.5:c.1193G>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_175721.3:p.(S398T),NM_175719.3:p.(S398T),NM_001206745.1:p.(S398T),NM_001206744.1:p.(S398T),NM_000547.5:p.(S398T);ESP6500_MAF=26.0218,13.6238,21.8371;ESP6500_PH=.,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=6697,1871;CLINVAR_ALLELEID=250168;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED_CT:190268003|MedGen:C1291299,OMIM:274500,SNOMED_CT:124204003|MedGen:CN169374;CLINVAR_CLNDN=Congenital_hypothyroidism|Deficiency_of_iodide_peroxidase|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.1477459G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:23876|UniProtKB_(protein):P07202#VAR_006059;CLINVAR_GENEINFO=TPO:7173;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2175977	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1457,141,0
chr2	1477720	rs2138019	C	T	138.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.14;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2138019;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_000547.5|protein_coding|8/16|c.1338+116C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_001206744.1|protein_coding|8/16|c.1338+116C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_001206745.1|protein_coding|8/15|c.1338+116C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175719.3|protein_coding|8/15|c.1338+116C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175721.3|protein_coding|7/14|c.1338+116C>T||||||,T|intron_variant|MODIFIER|TPO|TPO|transcript|NM_175722.3|protein_coding|6/14|c.820-6876C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2017;p3_1000G_AF=0.402756;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=12133;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1481492;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:167,18,0
chr2	1542555	rs1042589;331644	C	G	1841.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.7;SOR=1.355;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1042589;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|TPO|TPO|transcript|NM_000547.5|protein_coding|17/17|c.*81C>G|||||81|,G|3_prime_UTR_variant|MODIFIER|TPO|TPO|transcript|NM_001206744.1|protein_coding|17/17|c.*81C>G|||||81|,G|3_prime_UTR_variant|MODIFIER|TPO|TPO|transcript|NM_001206745.1|protein_coding|16/16|c.*81C>G|||||81|,G|3_prime_UTR_variant|MODIFIER|TPO|TPO|transcript|NM_175719.3|protein_coding|16/16|c.*81C>G|||||81|,G|3_prime_UTR_variant|MODIFIER|TPO|TPO|transcript|NM_175721.3|protein_coding|15/15|c.*81C>G|||||81|,G|3_prime_UTR_variant|MODIFIER|TPO|TPO|transcript|NM_175722.3|protein_coding|15/15|c.*81C>G|||||81|;p3_1000G_AA=C|||;p3_1000G_AC=1766;p3_1000G_AF=0.352636;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=18300;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.4384;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1546327;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=330,1054;ESP6500_AA_GTC=44,242,406;ESP6500_CDS_SIZES=NM_175722.3:2283,NM_175721.3:2670,NM_175719.3:2631,NM_001206745.1:2631,NM_001206744.1:2802,NM_000547.5:2802;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=123;ESP6500_EA_AC=1412,1770;ESP6500_EA_GTC=308,796,487;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175722.3:utr-3,NM_175721.3:utr-3,NM_175719.3:utr-3,NM_001206745.1:utr-3,NM_001206744.1:utr-3,NM_000547.5:utr-3;ESP6500_GL=TPO;ESP6500_GRCh38_POSITION=2:1542555;ESP6500_GTC=352,1038,893;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_175722.3:c.*81C>G,NM_175721.3:c.*81C>G,NM_175719.3:c.*81C>G,NM_001206745.1:c.*81C>G,NM_001206744.1:c.*81C>G,NM_000547.5:c.*81C>G;ESP6500_MAF=44.3746,23.8439,38.1516;ESP6500_TAC=1742,2824;CLINVAR_AF_ESP=0.3815;CLINVAR_AF_EXAC=0.45936;CLINVAR_AF_TGP=0.3526;CLINVAR_ALLELEID=282293;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000851,MedGen:C0010308,Orphanet:ORPHA442,SNOMED_CT:190268003;CLINVAR_CLNDN=Congenital_hypothyroidism;CLINVAR_CLNHGVS=NC_000002.12:g.1542555C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:23879;CLINVAR_GENEINFO=TPO:7173;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1042589	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1870,180,0
chr2	1638765	rs6729142	T	C	781.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.2;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6729142;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PXDN|PXDN|transcript|NM_012293.2|protein_coding|21/22|c.4206+81A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4398;p3_1000G_AF=0.878195;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=16465;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1642537;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:1638765_T_C:810,54,0
chr2	1638767	rs6742040	C	T	817.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6742040;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PXDN|PXDN|transcript|NM_012293.2|protein_coding|21/22|c.4206+79G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4379;p3_1000G_AF=0.874401;p3_1000G_AFR_AF=0.6384;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=16766;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1642539;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:57:1|1:1638765_T_C:846,57,0
chr2	1638773	rs6742039	C	G	817.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6742039;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PXDN|PXDN|transcript|NM_012293.2|protein_coding|21/22|c.4206+73G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4398;p3_1000G_AF=0.878195;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=16650;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1642545;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:57:1|1:1638765_T_C:846,57,0
chr2	1643399	rs6730800;260228	T	C	1808.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=1.009;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6730800;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|PXDN|PXDN|transcript|NM_012293.2|protein_coding|19/23|c.3921A>G|p.Val1307Val|4013/6849|3921/4440|1307/1479||;p3_1000G_AA=C|||;p3_1000G_AC=4546;p3_1000G_AF=0.907748;p3_1000G_AFR_AF=0.7723;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=16030;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1647171;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9775;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3398,826;ESP6500_AA_GTC=1369,660,83;ESP6500_CDS_SIZES=NM_012293.1:4440;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=70;ESP6500_EA_AC=7528,902;ESP6500_EA_GTC=3362,804,49;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012293.1:coding-synonymous;ESP6500_GL=PXDN;ESP6500_GRCh38_POSITION=2:1643399;ESP6500_GTC=4731,1464,132;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012293.1:c.3921A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012293.1:p.(V1307);ESP6500_MAF=10.6999,19.5549,13.6558;ESP6500_TAC=10926,1728;CLINVAR_ALLELEID=250314;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.1643399T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PXDN:7837;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6730800	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,56:56:99:1|1:1643391_C_A:1837,168,0
chr2	1649050	rs1863135;260223	T	G	2706.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=0.766;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1863135;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|PXDN|PXDN|transcript|NM_012293.2|protein_coding|17/23|c.2730A>C|p.Ile910Ile|2822/6849|2730/4440|910/1479||;p3_1000G_AA=G|||;p3_1000G_AC=4685;p3_1000G_AF=0.935503;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=16626;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8936;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1652822;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9775;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3740,430;ESP6500_AA_GTC=1672,396,17;ESP6500_CDS_SIZES=NM_012293.1:4440;ESP6500_CG=-3.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=32;ESP6500_EA_AC=7422,822;ESP6500_EA_GTC=3335,752,35;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012293.1:coding-synonymous;ESP6500_GL=PXDN;ESP6500_GRCh38_POSITION=2:1649050;ESP6500_GTC=5007,1148,52;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_012293.1:c.2730A>C;ESP6500_HGVS_PROTEIN_VAR=NM_012293.1:p.(I910);ESP6500_MAF=9.9709,10.3118,10.0854;ESP6500_TAC=11162,1252;CLINVAR_ALLELEID=250319;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.1649050T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PXDN:7837;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1863135	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2735,249,0
chr2	1660882	rs17841813;260220	A	G	1986.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17841813;dbSNPBuildID=123;ANN=G|splice_region_variant&synonymous_variant|LOW|PXDN|PXDN|transcript|NM_012293.2|protein_coding|14/23|c.1836T>C|p.Asn612Asn|1928/6849|1836/4440|612/1479||;p3_1000G_AA=G|||;p3_1000G_AC=4061;p3_1000G_AF=0.810903;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=18771;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.6918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1664654;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3090,1084;ESP6500_AA_GTC=1128,834,125;ESP6500_CDS_SIZES=NM_012293.1:4440;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=87;ESP6500_EA_AC=5870,2514;ESP6500_EA_GTC=2076,1718,398;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012293.1:coding-synonymous-near-splice;ESP6500_GL=PXDN;ESP6500_GRCh38_POSITION=2:1660882;ESP6500_GTC=3204,2552,523;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012293.1:c.1836T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012293.1:p.(N612);ESP6500_MAF=29.9857,25.9703,28.6511;ESP6500_TAC=8960,3598;CLINVAR_ALLELEID=250345;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.1660882A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=PXDN:7837;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17841813	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2015,192,0
chr2	1663538	rs12475392	G	A	523.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12475392;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PXDN|PXDN|transcript|NM_012293.2|protein_coding|12/22|c.1567+67C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4271;p3_1000G_AF=0.852835;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=19334;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.67;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1667310;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:552,51,0
chr2	1664794	rs890055	A	G	189.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs890055;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PXDN|PXDN|transcript|NM_012293.2|protein_coding|11/22|c.1408+164T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4294;p3_1000G_AF=0.857428;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=16861;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.6859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1668566;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:218,18,0
chr2	1683889	rs74336100	TC	T	59.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.04;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs74336100;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|PXDN|PXDN|transcript|NM_012293.2|protein_coding|5/22|c.489-163delG||||||;p3_1000G_AA=CC|CC|C|deletion;p3_1000G_AC=421;p3_1000G_AF=0.0840655;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=16547;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.0676;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1687661;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,3:5:58:97,0,58
chr2	1839196	rs6728368	T	C	1377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.105;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6728368;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|21/25|c.3033A>G|p.Gly1011Gly|3900/7182|3033/3561|1011/1186||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|21/25|c.3033A>G|p.Gly1011Gly|3728/7010|3033/3561|1011/1186||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|21/25|c.3027A>G|p.Gly1009Gly|3905/7187|3027/3555|1009/1184||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|21/25|c.3027A>G|p.Gly1009Gly|3683/6965|3027/3555|1009/1184||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|21/24|c.3027A>G|p.Gly1009Gly|3706/7307|3027/3432|1009/1143||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|21/25|c.3027A>G|p.Gly1009Gly|3722/6259|3027/3441|1009/1146||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|21/24|c.3033A>G|p.Gly1011Gly|3823/7418|3033/3432|1011/1143||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|22/26|c.3033A>G|p.Gly1011Gly|3920/7202|3033/3561|1011/1186||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|21/25|c.3027A>G|p.Gly1009Gly|3838/6381|3027/3447|1009/1148||,C|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|21/25|c.3027A>G|p.Gly1009Gly|3894/7176|3027/3555|1009/1184||;p3_1000G_AA=C|||;p3_1000G_AC=2287;p3_1000G_AF=0.456669;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=15189;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.3121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1842968;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2557,1539;ESP6500_AA_GTC=907,743,398;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=-11.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=32;ESP6500_EA_AC=2826,5556;ESP6500_EA_GTC=495,1836,1860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:coding-synonymous;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1839196;ESP6500_GTC=1402,2579,2258;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.3027A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015025.2:p.(G1009);ESP6500_MAF=33.7151,37.5732,43.1399;ESP6500_TAC=5383,7095	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1406,132,0
chr2	1840686	rs4381806	T	C	1189.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4381806;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|20/24|c.2858+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|20/24|c.2858+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|20/24|c.2852+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|20/24|c.2852+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|20/23|c.2852+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|20/24|c.2852+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|20/23|c.2858+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|21/25|c.2858+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|20/24|c.2852+74A>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|20/24|c.2852+74A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2708;p3_1000G_AF=0.540735;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=17196;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1844458;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1218,102,0
chr2	1840880	rs7425544	C	T	533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7425544;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|19/24|c.2775-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|19/24|c.2775-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|19/24|c.2769-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|19/24|c.2769-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|19/23|c.2769-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|19/24|c.2769-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|19/23|c.2775-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|20/25|c.2775-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|19/24|c.2769-37G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|19/24|c.2769-37G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2462;p3_1000G_AF=0.491613;p3_1000G_AFR_AF=0.6172;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=14268;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1844652;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1572,1470;ESP6500_AA_GTC=415,742,364;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=93;ESP6500_EA_AC=2217,4571;ESP6500_EA_GTC=386,1445,1563;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:intron;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1840880;ESP6500_GTC=801,2187,1927;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.2769-37G>A;ESP6500_MAF=32.6606,48.3235,38.5453;ESP6500_TAC=3789,6041	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:1840880_C_T:562,42,0
chr2	1840904	rs7425542	C	T	322.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7425542;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|19/24|c.2775-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|19/24|c.2775-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|19/24|c.2769-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|19/24|c.2769-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|19/23|c.2769-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|19/24|c.2769-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|19/23|c.2775-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|20/25|c.2775-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|19/24|c.2769-61G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|19/24|c.2769-61G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3195;p3_1000G_AF=0.637979;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=13930;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.506;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1844676;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:24:1|1:1840880_C_T:351,24,0
chr2	1886401	rs4853824	A	G	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.22;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-0.459;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4853824;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|18/24|c.2711+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|18/24|c.2711+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|18/24|c.2705+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|18/24|c.2705+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|18/23|c.2705+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|18/24|c.2705+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|18/23|c.2711+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|19/25|c.2711+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|18/24|c.2705+138T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|18/24|c.2705+138T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1875;p3_1000G_AF=0.374401;p3_1000G_AFR_AF=0.5719;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=16410;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.2286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1890173;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:257,0,169
chr2	1889361	rs75247762	C	T	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.57;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.536;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=0.371;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75247762;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|16/25|c.2400G>A|p.Gln800Gln|3267/7182|2400/3561|800/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|16/25|c.2400G>A|p.Gln800Gln|3095/7010|2400/3561|800/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|16/25|c.2394G>A|p.Gln798Gln|3272/7187|2394/3555|798/1184||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|16/25|c.2394G>A|p.Gln798Gln|3050/6965|2394/3555|798/1184||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|16/24|c.2394G>A|p.Gln798Gln|3073/7307|2394/3432|798/1143||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|16/25|c.2394G>A|p.Gln798Gln|3089/6259|2394/3441|798/1146||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|16/24|c.2400G>A|p.Gln800Gln|3190/7418|2400/3432|800/1143||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|17/26|c.2400G>A|p.Gln800Gln|3287/7202|2400/3561|800/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|16/25|c.2394G>A|p.Gln798Gln|3205/6381|2394/3447|798/1148||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|16/25|c.2394G>A|p.Gln798Gln|3261/7176|2394/3555|798/1184||;p3_1000G_AA=C|||;p3_1000G_AC=321;p3_1000G_AF=0.0640974;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=15516;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.0457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1893133;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=40,4030;ESP6500_AA_GTC=0,40,1995;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=63;ESP6500_EA_AC=441,7897;ESP6500_EA_GTC=15,411,3743;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:coding-synonymous;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1889361;ESP6500_GTC=15,451,5738;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.2394G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015025.2:p.(Q798);ESP6500_MAF=5.289,0.9828,3.8765;ESP6500_TAC=481,11927	GT:AD:DP:GQ:PL	0/1:18,11:29:99:293,0,461
chr2	1910179	rs1309794595	G	A	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.017;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.094;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|13/24|c.1817+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|13/24|c.1817+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|13/24|c.1811+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|13/24|c.1811+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|13/23|c.1811+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|13/24|c.1811+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|13/23|c.1817+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|14/25|c.1817+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|13/24|c.1811+61C>T||||||,A|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|13/24|c.1811+61C>T||||||	GT:AD:DP:GQ:PL	0/1:19,17:36:99:428,0,481
chr2	1922221	rs2241685	C	T	1118.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.96;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2241685;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|10/24|c.1483+65G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|10/24|c.1483+65G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|10/24|c.1477+71G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|10/24|c.1477+71G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|10/23|c.1477+71G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|10/24|c.1477+71G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|10/23|c.1483+65G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|11/25|c.1483+65G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|10/24|c.1477+71G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|10/24|c.1477+71G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=922;p3_1000G_AF=0.184105;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=22555;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1925993;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1147,96,0
chr2	1922665	rs1529667	G	T	3818.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=112;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.4;SOR=1.138;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1529667;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|10/25|c.1104C>A|p.Pro368Pro|1971/7182|1104/3561|368/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|10/25|c.1104C>A|p.Pro368Pro|1799/7010|1104/3561|368/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|10/25|c.1104C>A|p.Pro368Pro|1982/7187|1104/3555|368/1184||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|10/25|c.1104C>A|p.Pro368Pro|1760/6965|1104/3555|368/1184||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|10/24|c.1104C>A|p.Pro368Pro|1783/7307|1104/3432|368/1143||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|10/25|c.1104C>A|p.Pro368Pro|1799/6259|1104/3441|368/1146||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|10/24|c.1104C>A|p.Pro368Pro|1894/7418|1104/3432|368/1143||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|11/26|c.1104C>A|p.Pro368Pro|1991/7202|1104/3561|368/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|10/25|c.1104C>A|p.Pro368Pro|1915/6381|1104/3447|368/1148||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|10/25|c.1104C>A|p.Pro368Pro|1971/7176|1104/3555|368/1184||;p3_1000G_AA=T|||;p3_1000G_AC=4964;p3_1000G_AF=0.991214;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=20328;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9761;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1926437;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4129,29;ESP6500_AA_GTC=2050,29,0;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=-11.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=38;ESP6500_EA_AC=8151,261;ESP6500_EA_GTC=3947,257,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:coding-synonymous;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1922665;ESP6500_GTC=5997,286,2;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.1104C>A;ESP6500_HGVS_PROTEIN_VAR=NM_015025.2:p.(P368);ESP6500_MAF=3.1027,0.6975,2.3071;ESP6500_TAC=12280,290	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3847,333,0
chr2	1942874	rs7355555	A	C	2934.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=1.289;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7355555;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|9/24|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|9/24|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|9/24|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|9/24|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|9/23|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|9/24|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|9/23|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|10/25|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|9/24|c.505+108T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|9/24|c.505+108T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2169;p3_1000G_AF=0.433107;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=19336;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.3569;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1946646;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2963,285,0
chr2	1943142	rs3748988	A	G	1658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748988;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|9/25|c.345T>C|p.Asp115Asp|1212/7182|345/3561|115/1186||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|9/25|c.345T>C|p.Asp115Asp|1040/7010|345/3561|115/1186||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|9/25|c.345T>C|p.Asp115Asp|1223/7187|345/3555|115/1184||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|9/25|c.345T>C|p.Asp115Asp|1001/6965|345/3555|115/1184||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|9/24|c.345T>C|p.Asp115Asp|1024/7307|345/3432|115/1143||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|9/25|c.345T>C|p.Asp115Asp|1040/6259|345/3441|115/1146||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|9/24|c.345T>C|p.Asp115Asp|1135/7418|345/3432|115/1143||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|10/26|c.345T>C|p.Asp115Asp|1232/7202|345/3561|115/1186||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|9/25|c.345T>C|p.Asp115Asp|1156/6381|345/3447|115/1148||,G|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|9/25|c.345T>C|p.Asp115Asp|1212/7176|345/3555|115/1184||;p3_1000G_AA=a|||;p3_1000G_AC=2558;p3_1000G_AF=0.510783;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=14735;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1946914;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3691;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2509,1653;ESP6500_AA_GTC=799,911,371;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=104;ESP6500_EA_AC=2745,5453;ESP6500_EA_GTC=547,1651,1901;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:coding-synonymous;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1943142;ESP6500_GTC=1346,2562,2272;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.345T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015025.2:p.(D115);ESP6500_MAF=33.4838,39.7165,42.5081;ESP6500_TAC=5254,7106	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1687,144,0
chr2	1943196	rs3748989	C	T	1722.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748989;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|9/25|c.291G>A|p.Glu97Glu|1158/7182|291/3561|97/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|9/25|c.291G>A|p.Glu97Glu|986/7010|291/3561|97/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|9/25|c.291G>A|p.Glu97Glu|1169/7187|291/3555|97/1184||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|9/25|c.291G>A|p.Glu97Glu|947/6965|291/3555|97/1184||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|9/24|c.291G>A|p.Glu97Glu|970/7307|291/3432|97/1143||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|9/25|c.291G>A|p.Glu97Glu|986/6259|291/3441|97/1146||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|9/24|c.291G>A|p.Glu97Glu|1081/7418|291/3432|97/1143||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|10/26|c.291G>A|p.Glu97Glu|1178/7202|291/3561|97/1186||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|9/25|c.291G>A|p.Glu97Glu|1102/6381|291/3447|97/1148||,T|synonymous_variant|LOW|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|9/25|c.291G>A|p.Glu97Glu|1158/7176|291/3555|97/1184||,T|sequence_feature|LOW|MYT1L|MYT1L|compositionally-biased-region:Asp/Glu-rich|NM_001303052.1|protein_coding|9/25|c.291G>A||||||,T|sequence_feature|LOW|MYT1L|MYT1L|compositionally-biased-region:Asp/Glu-rich|NM_015025.3|protein_coding|9/25|c.291G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=829;p3_1000G_AF=0.165535;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=17458;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1946968;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1247;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=518,3730;ESP6500_AA_GTC=31,456,1637;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=-3.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=103;ESP6500_EA_AC=683,7683;ESP6500_EA_GTC=28,627,3528;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:coding-synonymous;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1943196;ESP6500_GTC=59,1083,5165;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.291G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015025.2:p.(E97);ESP6500_MAF=8.164,12.194,9.5212;ESP6500_TAC=1201,11413	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1751,161,0
chr2	1979105	rs2304007	T	G	1346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=1.414;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304007;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|8/24|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|8/24|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|8/24|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|8/24|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|8/23|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|8/24|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|8/23|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|9/25|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|8/24|c.152+60A>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|8/24|c.152+60A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1201;p3_1000G_AF=0.239816;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=22256;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1982877;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=442,942;ESP6500_AA_GTC=77,288,327;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=562,2620;ESP6500_EA_GTC=42,478,1071;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:intron;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1979105;ESP6500_GTC=119,766,1398;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.152+60A>C;ESP6500_MAF=17.6618,31.9364,21.9886;ESP6500_TAC=1004,3562	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1375,135,0
chr2	1979602	rs2304008	A	C	1555.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=1.714;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304008;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|6/24|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|6/24|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|6/24|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|6/24|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|6/23|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|6/24|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|6/23|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|7/25|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|6/24|c.56-48T>G||||||,C|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|6/24|c.56-48T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2324;p3_1000G_AF=0.464058;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=17276;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1983374;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2604,1210;ESP6500_AA_GTC=894,816,197;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=2285,5965;ESP6500_EA_GTC=307,1671,2147;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:intron;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1979602;ESP6500_GTC=1201,2487,2344;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.56-48T>G;ESP6500_MAF=27.697,31.7252,40.5255;ESP6500_TAC=4889,7175	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1584,135,0
chr2	1979623	rs2304009	C	T	1576.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304009;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|6/24|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|6/24|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|6/24|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|6/24|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|6/23|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|6/24|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|6/23|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|7/25|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|6/24|c.56-69G>A||||||,T|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|6/24|c.56-69G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=853;p3_1000G_AF=0.170327;p3_1000G_AFR_AF=0.0976;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=17476;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.1531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1983395;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=187,1197;ESP6500_AA_GTC=8,171,513;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=519,2663;ESP6500_EA_GTC=33,453,1105;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:intron;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1979623;ESP6500_GTC=41,624,1618;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.56-69G>A;ESP6500_MAF=16.3105,13.5116,15.4621;ESP6500_TAC=706,3860	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1605,144,0
chr2	1979847	rs7561518	A	G	1347.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.8;SOR=2.242;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7561518;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001303052.1|protein_coding|5/24|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329845.1|protein_coding|5/24|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329848.1|protein_coding|5/24|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329847.1|protein_coding|5/24|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329852.1|protein_coding|5/23|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329846.1|protein_coding|5/24|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329851.1|protein_coding|5/23|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329844.1|protein_coding|6/25|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_001329849.1|protein_coding|5/24|c.1-70T>C||||||,G|intron_variant|MODIFIER|MYT1L|MYT1L|transcript|NM_015025.3|protein_coding|5/24|c.1-70T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2380;p3_1000G_AF=0.47524;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=12744;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1983619;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=991,393;ESP6500_AA_GTC=358,275,59;ESP6500_CDS_SIZES=NM_015025.2:3555;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=22;ESP6500_EA_AC=1002,2180;ESP6500_EA_GTC=150,702,739;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015025.2:intron;ESP6500_GL=MYT1L;ESP6500_GRCh38_POSITION=2:1979847;ESP6500_GTC=508,977,798;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015025.2:c.-70T>C;ESP6500_MAF=31.4896,28.396,43.6487;ESP6500_TAC=1993,2573	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1376,111,0
chr2	3189269	rs17682	G	A	510.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.165;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=1.33;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17682;dbSNPBuildID=63;ANN=A|3_prime_UTR_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|9/9|c.*65C>T|||||65|;p3_1000G_AA=G|||;p3_1000G_AC=979;p3_1000G_AF=0.195487;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=17336;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3193040;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2178;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,22:44:99:539,0,503
chr2	3208476	rs7584823	G	T	497.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.183;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=1.37;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7584823;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|5/8|c.516+5673C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3366;p3_1000G_AF=0.672125;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=18545;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.5487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3212247;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,18:31:99:526,0,389
chr2	3208933	rs7595702	C	A	1269.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.923;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7595702;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|5/8|c.516+5216G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2568;p3_1000G_AF=0.51278;p3_1000G_AFR_AF=0.5643;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=18338;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.4463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3212704;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1298,117,0
chr2	3214023	rs10865535	T	C	287.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10865535;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|5/8|c.516+126A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=14497;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3217794;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:316,24,0
chr2	3214137	rs11682452	G	C	1273.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.07;SOR=1.347;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11682452;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|5/8|c.516+12C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4611;p3_1000G_AF=0.920727;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=18088;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3217908;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9346;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3706,700;ESP6500_AA_AGE=292.4+/-282.0;ESP6500_AA_GTC=1564,578,61;ESP6500_CDS_SIZES=NM_003310.2:1164;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=8219,381;ESP6500_EA_AGE=123.8+/-182.6;ESP6500_EA_GTC=3929,361,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003310.2:intron;ESP6500_GL=TSSC1;ESP6500_GRCh38_POSITION=2:3214137;ESP6500_GTC=5493,939,71;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_003310.2:c.516+12C>G;ESP6500_MAF=4.4302,15.8874,8.3115;ESP6500_TAC=11925,1081	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1302,122,0
chr2	3318784	rs62121538	T	C	378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=7.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.28;ReadPosRankSum=-0.212;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62121538;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|3/8|c.259+19233A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=811;p3_1000G_AF=0.161941;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=20899;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.2326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3322555;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,12:17:99:407,0,115
chr2	3319026	rs12618407	C	A	391.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12618407;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|3/8|c.259+18991G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2870;p3_1000G_AF=0.573083;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=21444;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.4155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3322797;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:420,39,0
chr2	3338238	rs3811617	T	C	191.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811617;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|2/8|c.127-89A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3017;p3_1000G_AF=0.602436;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=22151;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3342009;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:220,18,0
chr2	3353182	rs2875394	A	T	1160.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=1.347;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2875394;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|2/8|c.126+1368T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4996;p3_1000G_AF=0.997604;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20546;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3356953;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1189,121,0
chr2	3353224	rs62119517	G	A	555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.579;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0.956;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-0.902;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62119517;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|2/8|c.126+1326C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=747;p3_1000G_AF=0.149161;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=20235;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.2237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3356995;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:35,28:63:99:584,0,878
chr2	3354687	rs11269308;rs146001084	ATTATGAAGTTAGAT	A	727.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=1.739;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs146001084,rs11269308;dbSNPBuildID=134,130;ANN=A|intron_variant|MODIFIER|TSSC1|TSSC1|transcript|NM_003310.2|protein_coding|1/8|c.43-68_43-55delATCTAACTTCATAA||||||;p3_1000G_AC=4990;p3_1000G_AF=0.996406;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16064;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3358458;p3_1000G_GRCH37_REF=ATTATGAAGTTAGAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:51:765,51,0
chr2	3388055	rs11127423	C	T	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.357;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=1.86;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11127423;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|2/12|c.432C>T|p.Ala144Ala|601/2487|432/2208|144/735||,T|synonymous_variant|LOW|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|2/12|c.432C>T|p.Ala144Ala|638/2524|432/2208|144/735||;p3_1000G_AA=C|||;p3_1000G_AC=1528;p3_1000G_AF=0.305112;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=6707;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3391826;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:300,0,217
chr2	3388304	rs10865541	T	C	1674.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.89;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=4.631;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.695;SOR=0.893;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10865541;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|2/12|c.681T>C|p.Phe227Phe|850/2487|681/2208|227/735||,C|synonymous_variant|LOW|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|2/12|c.681T>C|p.Phe227Phe|887/2524|681/2208|227/735||;p3_1000G_AA=C|||;p3_1000G_AC=3274;p3_1000G_AF=0.653754;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=7910;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3392075;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3067,1339;ESP6500_AA_AGE=443.9+/-347.2;ESP6500_AA_GTC=1070,927,206;ESP6500_CDS_SIZES=NM_016030.5:2208;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=48;ESP6500_EA_AC=5013,3587;ESP6500_EA_AGE=517.6+/-379.1;ESP6500_EA_GTC=1446,2121,733;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016030.5:coding-synonymous;ESP6500_GL=TRAPPC12;ESP6500_GRCh38_POSITION=2:3388304;ESP6500_GTC=2516,3048,939;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23251661;ESP6500_HGVS_CDNA_VAR=NM_016030.5:c.681T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016030.5:p.(F227);ESP6500_MAF=41.7093,30.3904,37.8748;ESP6500_TAC=8080,4926	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1703,0,1059
chr2	3388524	rs11686212	A	G	1523.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.91;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=5.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.196;SOR=1.175;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11686212;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|2/12|c.901A>G|p.Ser301Gly|1070/2487|901/2208|301/735||,G|missense_variant|MODERATE|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|2/12|c.901A>G|p.Ser301Gly|1107/2524|901/2208|301/735||;p3_1000G_AA=A|||;p3_1000G_AC=2343;p3_1000G_AF=0.467851;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=12932;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3392295;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1819,2587;ESP6500_AA_GTC=370,1079,754;ESP6500_CDS_SIZES=NM_016030.5:2208;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=3217,5383;ESP6500_EA_GTC=614,1989,1697;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016030.5:missense;ESP6500_GL=TRAPPC12;ESP6500_GRCh38_POSITION=2:3388524;ESP6500_GS=56;ESP6500_GTC=984,3068,2451;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016030.5:c.901A>G;ESP6500_HGVS_PROTEIN_VAR=NM_016030.5:p.(S301G);ESP6500_MAF=37.407,41.2846,38.7206;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=5036,7970	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1552,0,1125
chr2	3388742	rs12999423	T	C	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.91;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-2.017;SOR=1.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12999423;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|2/11|c.1047+72T>C||||||,C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|2/11|c.1047+72T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3274;p3_1000G_AF=0.653754;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=15425;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.6173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3392513;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,7:24:99:0|1:3388742_T_C:243,0,1001
chr2	3388743	rs12999424	T	A	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-2.017;SOR=1.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12999424;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|2/11|c.1047+73T>A||||||,A|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|2/11|c.1047+73T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3278;p3_1000G_AF=0.654553;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=15528;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3392514;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,7:24:99:0|1:3388742_T_C:243,0,1001
chr2	3421743	rs7558487	G	C	1444.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.41;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=4.42;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-1.033;SOR=0.406;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7558487;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|3/11|c.1165-138G>C||||||,C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|3/11|c.1165-138G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3388;p3_1000G_AF=0.676518;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=20488;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.6491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3425514;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1473,0,1979
chr2	3421958	rs1132171	C	T	1519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.341;ClippingRankSum=0;DP=125;ExcessHet=3.0103;FS=1.423;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.946;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1132171;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|4/12|c.1242C>T|p.Ser414Ser|1411/2487|1242/2208|414/735||,T|synonymous_variant|LOW|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|4/12|c.1242C>T|p.Ser414Ser|1448/2524|1242/2208|414/735||;p3_1000G_AA=C|||;p3_1000G_AC=545;p3_1000G_AF=0.108826;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=18472;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3425729;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=30,4376;ESP6500_AA_AGE=33.5+/-64.1;ESP6500_AA_GTC=0,30,2173;ESP6500_CDS_SIZES=NM_016030.5:2208;ESP6500_CG=-5.5;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=32;ESP6500_EA_AC=50,8550;ESP6500_EA_AGE=30.1+/-81.4;ESP6500_EA_GTC=0,50,4250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016030.5:coding-synonymous;ESP6500_GL=TRAPPC12;ESP6500_GRCh38_POSITION=2:3421958;ESP6500_GTC=0,80,6423;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016030.5:c.1242C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016030.5:p.(S414);ESP6500_MAF=0.5814,0.6809,0.6151;ESP6500_TAC=80,12926	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1548,0,1706
chr2	3422177	rs10206964	T	C	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.703;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10206964;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|4/11|c.1278+183T>C||||||,C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|4/11|c.1278+183T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3386;p3_1000G_AF=0.676118;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=17685;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.6491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3425948;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,15:25:99:402,0,236
chr2	3457099	rs7579428	T	C	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.006;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.68;ReadPosRankSum=0.328;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7579428;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|6/11|c.1531-522T>C||||||,C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|6/11|c.1531-522T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3041;p3_1000G_AF=0.607228;p3_1000G_AFR_AF=0.9576;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=17905;p3_1000G_EAS_AF=0.5069;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3460870;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:68:68,0,136
chr2	3477866	rs4535074	T	C	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.045;SOR=0.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4535074;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|10/11|c.1877+71T>C||||||,C|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|10/11|c.1877+71T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2443;p3_1000G_AF=0.487819;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=18135;p3_1000G_EAS_AF=0.4673;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3481637;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:201,0,217
chr2	3477888	rs4321399	G	A	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.268;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.805;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4321399;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|10/11|c.1877+93G>A||||||,A|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|10/11|c.1877+93G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2155;p3_1000G_AF=0.430312;p3_1000G_AFR_AF=0.3994;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=18288;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.4185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3481659;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:182,0,216
chr2	3479025	rs11890651	T	G	520.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.055;SOR=0.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11890651;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|11/11|c.1965+92T>G||||||,G|intron_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|11/11|c.1965+92T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1812;p3_1000G_AF=0.361821;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=18130;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.2853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3482796;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,21:53:99:549,0,838
chr2	3479434	rs6767	C	T	764.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.25;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.326;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=1.67;SOR=0.414;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6767;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding|12/12|c.2181C>T|p.Phe727Phe|2350/2487|2181/2208|727/735||,T|synonymous_variant|LOW|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding|12/12|c.2181C>T|p.Phe727Phe|2387/2524|2181/2208|727/735||;p3_1000G_AA=T|||;p3_1000G_AC=2431;p3_1000G_AF=0.485423;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=20322;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.4185;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3483205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2465,1941;ESP6500_AA_AGE=551.2+/-378.2;ESP6500_AA_GTC=709,1047,447;ESP6500_CDS_SIZES=NM_016030.5:2208;ESP6500_CG=-1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=65;ESP6500_EA_AC=3327,5273;ESP6500_EA_AGE=643.8+/-400.0;ESP6500_EA_GTC=650,2027,1623;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016030.5:coding-synonymous;ESP6500_GL=TRAPPC12;ESP6500_GRCh38_POSITION=2:3479434;ESP6500_GTC=1359,3074,2070;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016030.5:c.2181C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016030.5:p.(F727);ESP6500_MAF=38.686,44.0536,44.5333;ESP6500_TAC=5792,7214	GT:AD:DP:GQ:PL	0/1:29,31:60:99:793,0,845
chr2	3479619	rs7569694	T	G	87.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.94;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7569694;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_001321102.1|protein_coding||c.*158T>G|||||48|,G|downstream_gene_variant|MODIFIER|TRAPPC12|TRAPPC12|transcript|NM_016030.5|protein_coding||c.*158T>G|||||48|,G|intergenic_region|MODIFIER|TRAPPC12-ADI1|TRAPPC12-ADI1|intergenic_region|TRAPPC12-ADI1|||n.3479619T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2431;p3_1000G_AF=0.485423;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=19535;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.4185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3483390;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:28:116,0,28
chr2	3484731	rs9752130	A	G	767.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.111;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=5.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.68;SOR=0.217;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9752130;dbSNPBuildID=119;ANN=G|intergenic_region|MODIFIER|TRAPPC12-ADI1|TRAPPC12-ADI1|intergenic_region|TRAPPC12-ADI1|||n.3484731A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2934;p3_1000G_AF=0.585863;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=20588;p3_1000G_EAS_AF=0.5506;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3488502;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,32:53:99:796,0,484
chr2	3498854	rs1130127	T	C	378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=1.46;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1130127;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|4/4|c.*109A>G|||||109|,C|3_prime_UTR_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|4/4|c.*109A>G|||||109|;p3_1000G_AA=C|||;p3_1000G_AC=1716;p3_1000G_AF=0.342652;p3_1000G_AFR_AF=0.6823;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=20280;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.168;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3502625;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,13:23:99:407,0,255
chr2	3498938	rs10208494	A	G	531.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.196;SOR=0.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10208494;dbSNPBuildID=119;ANN=G|3_prime_UTR_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|4/4|c.*25T>C|||||25|,G|3_prime_UTR_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|4/4|c.*25T>C|||||25|;p3_1000G_AA=A|||;p3_1000G_AC=1718;p3_1000G_AF=0.343051;p3_1000G_AFR_AF=0.6823;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17603;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.168;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3502709;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2643,1763;ESP6500_AA_AGE=644.6+/-398.0;ESP6500_AA_GTC=805,1033,365;ESP6500_CDS_SIZES=NM_018269.3:540;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=71;ESP6500_EA_AC=1300,7300;ESP6500_EA_AGE=256.3+/-280.9;ESP6500_EA_GTC=95,1110,3095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018269.3:utr-3;ESP6500_GL=ADI1;ESP6500_GRCh38_POSITION=2:3498938;ESP6500_GTC=900,2143,3460;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018269.3:c.*25T>C;ESP6500_MAF=15.1163,40.0136,30.3168;ESP6500_TAC=3943,9063	GT:AD:DP:GQ:PL	0/1:17,21:38:99:560,0,363
chr2	3499138	rs10627319	A	ACTT	192.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.404;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.699;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10627319;dbSNPBuildID=132;ANN=ACTT|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|3/3|c.421-57_421-56insAAG||||||,ACTT|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|3/3|c.403-57_403-56insAAG||||||;p3_1000G_AC=2718;p3_1000G_AF=0.542732;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=20003;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.3867;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3502909;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.409;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,6:12:99:0|1:3499138_A_ACTT:230,0,443
chr2	3499139	rs58219575	G	T	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.668;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-0.087;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58219575;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|3/3|c.421-57C>A||||||,T|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|3/3|c.403-57C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2718;p3_1000G_AF=0.542732;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=19169;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.3867;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3502910;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,5:11:99:0|1:3499138_A_ACTT:230,0,443
chr2	3499161	rs10194787	G	A	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=0.511;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10194787;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|3/3|c.421-79C>T||||||,A|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|3/3|c.403-79C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1717;p3_1000G_AF=0.342851;p3_1000G_AFR_AF=0.6831;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=20482;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.168;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3502932;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:95:95,0,223
chr2	3500519	rs6146601	GTGTACCTGCCGCCGCA	G	590.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.647;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.32;SOR=0.578;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs6146601;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|3/3|c.420+279_420+294delTGCGGCGGCAGGTACA||||||,G|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|3/3|c.402+279_402+294delTGCGGCGGCAGGTACA||||||;p3_1000G_AC=2846;p3_1000G_AF=0.568291;p3_1000G_AFR_AF=0.9107;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=14021;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3504290;p3_1000G_GRCH37_REF=GTGTACCTGCCGCCGCA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:29,18:47:99:628,0,1781
chr2	3500916	rs9950	A	G	1612.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.71;ClippingRankSum=0;DP=142;ExcessHet=3.0103;FS=4.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.168;SOR=0.482;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9950;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|ADI1|ADI1|transcript|NM_018269.3|protein_coding|3/4|c.318T>C|p.Asp106Asp|410/1676|318/540|106/179||,G|synonymous_variant|LOW|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|3/4|c.300T>C|p.Asp100Asp|3138/4404|300/522|100/173||;p3_1000G_AA=A|||;p3_1000G_AC=2672;p3_1000G_AF=0.533546;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=19687;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3504687;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3535,871;ESP6500_AA_AGE=743.8+/-411.5;ESP6500_AA_GTC=1431,673,99;ESP6500_CDS_SIZES=NM_018269.3:540;ESP6500_CG=-7.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=184;ESP6500_EA_AC=3057,5543;ESP6500_EA_AGE=469.8+/-367.7;ESP6500_EA_GTC=558,1941,1801;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018269.3:coding-synonymous;ESP6500_GL=ADI1;ESP6500_GRCh38_POSITION=2:3500916;ESP6500_GTC=1989,2614,1900;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018269.3:c.318T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018269.3:p.(D106);ESP6500_MAF=35.5465,19.7685,49.3157;ESP6500_TAC=6592,6414	GT:AD:DP:GQ:PL	0/1:80,61:141:99:1641,0,2084
chr2	3501048	rs34240449	A	G	853.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.291;SOR=0.737;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34240449;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|2/3|c.241-55T>C||||||,G|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|2/3|c.223-55T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2683;p3_1000G_AF=0.535743;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=19959;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3504819;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,30:59:99:882,0,813
chr2	3501122	rs35008570;rs397758685	G	GA	439.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.615;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=2.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.696;SOR=1.578;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35008570;dbSNPBuildID=132,138;ANN=GA|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|2/3|c.241-130dupT||||||,GA|intron_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding|2/3|c.223-130dupT||||||;p3_1000G_AA=AAAA|AAA|AAAA|deletion;p3_1000G_AC=2632;p3_1000G_AF=0.525559;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=21007;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.3887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3504893;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:14,17:31:99:477,0,389
chr2	3519553	rs10179340	A	G	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=-0.967;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10179340;dbSNPBuildID=119;ANN=G|5_prime_UTR_variant|MODIFIER|ADI1|ADI1|transcript|NM_018269.3|protein_coding|1/4|c.-66T>C|||||66|,G|upstream_gene_variant|MODIFIER|ADI1|ADI1|transcript|NM_001306077.1|protein_coding||c.-4644T>C|||||1806|;p3_1000G_AA=g|||;p3_1000G_AC=3733;p3_1000G_AF=0.745407;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=12613;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3523324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:64:64,0,121
chr2	3548720	rs200811242	G	A	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.135;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.81;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.338;SOR=0.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200811242;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|RNASEH1|RNASEH1|transcript|NM_002936.4|protein_coding|6/8|c.569C>T|p.Ala190Val|680/1865|569/861|190/286||,A|missense_variant|MODERATE|RNASEH1|RNASEH1|transcript|NM_001286834.1|protein_coding|6/8|c.491C>T|p.Ala164Val|680/1865|491/783|164/260||,A|missense_variant|MODERATE|RNASEH1|RNASEH1|transcript|NM_001286837.1|protein_coding|6/8|c.218C>T|p.Ala73Val|918/2103|218/510|73/169||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20371;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3596310;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,11:24:99:290,0,412
chr2	3557878	rs12711976	A	G	1729.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=0.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12711976;dbSNPBuildID=121;ANN=G|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038430.1|pseudogene||n.-509A>G|||||509|,G|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038429.1|pseudogene||n.-508A>G|||||508|,G|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038431.1|pseudogene||n.-509A>G|||||509|,G|intron_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_002936.4|protein_coding|1/7|c.128+255T>C||||||,G|intron_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_001286834.1|protein_coding|1/7|c.50+255T>C||||||,G|intron_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_001286837.1|protein_coding|1/7|c.-224+17T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3465;p3_1000G_AF=0.691893;p3_1000G_AFR_AF=0.6831;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=19109;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.6272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3605468;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1758,162,0
chr2	3557938	rs62106013	T	G	1382.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62106013;dbSNPBuildID=129;ANN=G|5_prime_UTR_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_001286837.1|protein_coding|1/8|c.-267A>C|||||5737|,G|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038430.1|pseudogene||n.-449T>G|||||449|,G|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038429.1|pseudogene||n.-448T>G|||||448|,G|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038431.1|pseudogene||n.-449T>G|||||449|,G|intron_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_002936.4|protein_coding|1/7|c.128+195A>C||||||,G|intron_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_001286834.1|protein_coding|1/7|c.50+195A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1961;p3_1000G_AF=0.391573;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.4337;p3_1000G_AN=5008;p3_1000G_DP=13641;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3605528;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:96:1|1:3557938_T_G:1411,96,0
chr2	3557948	rs34613047	A	C	1378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34613047;dbSNPBuildID=126;ANN=C|5_prime_UTR_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_001286837.1|protein_coding|1/8|c.-277T>G|||||5747|,C|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038430.1|pseudogene||n.-439A>C|||||439|,C|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038429.1|pseudogene||n.-438A>C|||||438|,C|upstream_gene_variant|MODIFIER|RNASEH1-AS1|RNASEH1-AS1|transcript|NR_038431.1|pseudogene||n.-439A>C|||||439|,C|intron_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_002936.4|protein_coding|1/7|c.128+185T>G||||||,C|intron_variant|MODIFIER|RNASEH1|RNASEH1|transcript|NM_001286834.1|protein_coding|1/7|c.50+185T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1967;p3_1000G_AF=0.392772;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=13312;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.333;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3605538;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:96:1|1:3557938_T_G:1407,96,0
chr2	3575950	rs3087873	A	G	1286.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3087873;dbSNPBuildID=102;ANN=G|intron_variant|MODIFIER|RPS7|RPS7|transcript|NM_001011.3|protein_coding|3/6|c.147+62A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4183;p3_1000G_AF=0.835264;p3_1000G_AFR_AF=0.7489;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=14963;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.7644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3623540;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=983,401;ESP6500_AA_GTC=346,291,55;ESP6500_CDS_SIZES=NM_001011.3:585;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=15;ESP6500_EA_AC=2435,747;ESP6500_EA_GTC=926,583,82;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011.3:intron;ESP6500_GL=RPS7;ESP6500_GRCh38_POSITION=2:3575950;ESP6500_GTC=1272,874,137;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001011.3:c.147+62A>G;ESP6500_MAF=23.4758,28.974,25.1424;ESP6500_TAC=3418,1148	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1315,120,0
chr2	3580058	rs7576238	G	C	1937.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=0.933;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7576238;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|RPS7|RPS7|transcript|NM_001011.3|protein_coding|5/6|c.357-52G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4520;p3_1000G_AF=0.902556;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=18343;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.7674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3627648;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9387;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1608,144;ESP6500_AA_GTC=736,136,4;ESP6500_CDS_SIZES=NM_001011.3:585;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=92;ESP6500_EA_AC=3085,897;ESP6500_EA_GTC=1190,705,96;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011.3:intron;ESP6500_GL=RPS7;ESP6500_GRCh38_POSITION=2:3580058;ESP6500_GTC=1926,841,100;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001011.3:c.357-52G>C;ESP6500_MAF=22.5264,8.2192,18.1549;ESP6500_TAC=4693,1041	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1966,188,0
chr2	3606254	rs3739147;402557	T	C	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=7.277;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-3.021;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739147;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255985.1|protein_coding|3/7|c.172+1784T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255982.1|protein_coding|2/5|c.130+1784T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255983.1|protein_coding|2/5|c.130+1784T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255984.1|protein_coding|2/4|c.130+1784T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_024027.4|protein_coding|2/6|c.130+1784T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_199235.2|protein_coding|2/7|c.42+1784T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NR_045659.1|pseudogene|2/7|n.493+1784T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255986.1|protein_coding|1/5|c.52+11T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255987.1|protein_coding|1/4|c.52+11T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255988.1|protein_coding|1/4|c.52+11T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255989.1|protein_coding|1/3|c.52+11T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3762;p3_1000G_AF=0.751198;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=15249;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.6849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3653844;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP;CLINVAR_ALLELEID=389501;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.3606254T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COLEC11:78989;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3739147	GT:AD:DP:GQ:PL	0/1:17,12:29:99:321,0,441
chr2	3613162	rs3811531	T	C	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.895;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.655;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811531;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255985.1|protein_coding|3/7|c.173-149T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255982.1|protein_coding|2/5|c.130+8692T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255983.1|protein_coding|2/5|c.131-149T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255984.1|protein_coding|2/4|c.130+8692T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_024027.4|protein_coding|2/6|c.131-149T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_199235.2|protein_coding|2/7|c.43-149T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NR_045659.1|pseudogene|2/7|n.494-149T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255986.1|protein_coding|1/5|c.53-149T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255987.1|protein_coding|1/4|c.52+6919T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255988.1|protein_coding|1/4|c.53-149T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255989.1|protein_coding|1/3|c.52+6919T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2884;p3_1000G_AF=0.575879;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=14106;p3_1000G_EAS_AF=0.6875;p3_1000G_EUR_AF=0.673;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3660752;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:132,0,219
chr2	3626058	rs10170348;402556	G	A	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.153;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=3.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=0;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10170348;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|COLEC11|COLEC11|transcript|NM_199235.2|protein_coding|4/8|c.159G>A|p.Lys53Lys|610/1784|159/807|53/268||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255985.1|protein_coding|4/7|c.245-11475G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255982.1|protein_coding|2/5|c.131-11475G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255983.1|protein_coding|3/5|c.202+12676G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255984.1|protein_coding|2/4|c.131-14220G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_024027.4|protein_coding|3/6|c.203-11475G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NR_045659.1|pseudogene|3/7|n.566-11475G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255986.1|protein_coding|2/5|c.125-11475G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255987.1|protein_coding|1/4|c.53-11475G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255988.1|protein_coding|2/4|c.124+12676G>A||||||,A|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255989.1|protein_coding|1/3|c.53-14220G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=597;p3_1000G_AF=0.119209;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=21665;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.1571;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3673648;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=164,4242;ESP6500_AA_AGE=108.6+/-147.0;ESP6500_AA_GTC=6,152,2045;ESP6500_CDS_SIZES=NM_199235.2:807,NM_024027.4:816,NM_001255989.1:594,NM_001255988.1:666,NM_001255987.1:666,NM_001255986.1:738,NM_001255985.1:858,NM_001255984.1:672,NM_001255983.1:744,NM_001255982.1:744;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=191;ESP6500_EA_AC=1240,7360;ESP6500_EA_AGE=249.2+/-276.5;ESP6500_EA_GTC=95,1050,3155;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199235.2:coding-synonymous,NM_024027.4:intron,NM_001255989.1:intron,NM_001255988.1:intron,NM_001255987.1:intron,NM_001255986.1:intron,NM_001255985.1:intron,NM_001255984.1:intron,NM_001255983.1:intron,NM_001255982.1:intron;ESP6500_GL=COLEC11;ESP6500_GRCh38_POSITION=2:3626058;ESP6500_GTC=101,1202,5200;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_199235.2:c.159G>A,NM_024027.4:c.203-11475G>A,NM_001255989.1:c.53-14220G>A,NM_001255988.1:c.124+12676G>A,NM_001255987.1:c.53-11475G>A,NM_001255986.1:c.125-11475G>A,NM_001255985.1:c.245-11475G>A,NM_001255984.1:c.131-14220G>A,NM_001255983.1:c.202+12676G>A,NM_001255982.1:c.131-11475G>A;ESP6500_HGVS_PROTEIN_VAR=NM_199235.2:p.(K53),.,.,.,.,.,.,.,.,.;ESP6500_MAF=14.4186,3.7222,10.795;ESP6500_TAC=1404,11602;CLINVAR_ALLELEID=389503;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.3626058G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COLEC11:78989;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10170348	GT:AD:DP:GQ:PL	0/1:34,19:53:99:430,0,1093
chr2	3637456	rs3811528	T	C	1124.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811528;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255985.1|protein_coding|4/7|c.245-77T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255982.1|protein_coding|2/5|c.131-77T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255983.1|protein_coding|3/5|c.203-2822T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255984.1|protein_coding|2/4|c.131-2822T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_024027.4|protein_coding|3/6|c.203-77T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_199235.2|protein_coding|4/7|c.194-77T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NR_045659.1|pseudogene|3/7|n.566-77T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255986.1|protein_coding|2/5|c.125-77T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255987.1|protein_coding|1/4|c.53-77T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255988.1|protein_coding|2/4|c.125-2822T>C||||||,C|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255989.1|protein_coding|1/3|c.53-2822T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4267;p3_1000G_AF=0.852037;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=19548;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3685046;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1153,99,0
chr2	3637484	rs3811527	A	G	1308.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=1.455;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811527;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255985.1|protein_coding|4/7|c.245-49A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255982.1|protein_coding|2/5|c.131-49A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255983.1|protein_coding|3/5|c.203-2794A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255984.1|protein_coding|2/4|c.131-2794A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_024027.4|protein_coding|3/6|c.203-49A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_199235.2|protein_coding|4/7|c.194-49A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NR_045659.1|pseudogene|3/7|n.566-49A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255986.1|protein_coding|2/5|c.125-49A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255987.1|protein_coding|1/4|c.53-49A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255988.1|protein_coding|2/4|c.125-2794A>G||||||,G|intron_variant|MODIFIER|COLEC11|COLEC11|transcript|NM_001255989.1|protein_coding|1/3|c.53-2794A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4269;p3_1000G_AF=0.852436;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=19362;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3685074;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3877,529;ESP6500_AA_AGE=775.6+/-414.1;ESP6500_AA_GTC=1706,465,32;ESP6500_CDS_SIZES=NM_199235.2:807,NM_024027.4:816,NM_001255989.1:594,NM_001255988.1:666,NM_001255987.1:666,NM_001255986.1:738,NM_001255985.1:858,NM_001255984.1:672,NM_001255983.1:744,NM_001255982.1:744;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=113;ESP6500_EA_AC=6702,1898;ESP6500_EA_AGE=727.0+/-406.6;ESP6500_EA_GTC=2608,1486,206;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199235.2:intron,NM_024027.4:intron,NM_001255989.1:intron,NM_001255988.1:intron,NM_001255987.1:intron,NM_001255986.1:intron,NM_001255985.1:intron,NM_001255984.1:intron,NM_001255983.1:intron,NM_001255982.1:intron;ESP6500_GL=COLEC11;ESP6500_GRCh38_POSITION=2:3637484;ESP6500_GTC=4314,1951,238;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_199235.2:c.194-49A>G,NM_024027.4:c.203-49A>G,NM_001255989.1:c.53-2794A>G,NM_001255988.1:c.125-2794A>G,NM_001255987.1:c.53-49A>G,NM_001255986.1:c.125-49A>G,NM_001255985.1:c.245-49A>G,NM_001255984.1:c.131-2794A>G,NM_001255983.1:c.203-2794A>G,NM_001255982.1:c.131-49A>G;ESP6500_MAF=22.0698,12.0064,18.6606;ESP6500_TAC=10579,2427	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1337,129,0
chr2	3671102	rs13409104	C	T	531.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.386;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.961;SOR=1.025;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13409104;dbSNPBuildID=121;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|ALLC|ALLC|transcript|NM_018436.3|protein_coding|2/12|c.-56C>T||||||,T|5_prime_UTR_variant|MODIFIER|ALLC|ALLC|transcript|NM_018436.3|protein_coding|2/12|c.-56C>T|||||56|;p3_1000G_AA=T|||;p3_1000G_AC=1730;p3_1000G_AF=0.345447;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=17142;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3718692;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=715,669;ESP6500_AA_GTC=185,345,162;ESP6500_CDS_SIZES=NM_018436.3:1176;ESP6500_CG=3.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=51;ESP6500_EA_AC=1212,1970;ESP6500_EA_GTC=231,750,610;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018436.3:utr-5;ESP6500_GL=ALLC;ESP6500_GRCh38_POSITION=2:3671102;ESP6500_GTC=416,1095,772;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018436.3:c.-56C>T;ESP6500_MAF=38.0893,48.3382,42.2032;ESP6500_TAC=1927,2639	GT:AD:DP:GQ:PL	0/1:36,23:59:99:560,0,971
chr2	3674042	rs13390724	G	A	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.136;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=-1.396;SOR=0.857;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13390724;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ALLC|ALLC|transcript|NM_018436.3|protein_coding|2/11|c.34-33G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1684;p3_1000G_AF=0.336262;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=19950;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.331;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3721632;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1654,1876;ESP6500_AA_GTC=423,808,534;ESP6500_CDS_SIZES=NM_018436.3:1176;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=17;ESP6500_EA_AC=2778,5212;ESP6500_EA_GTC=564,1650,1781;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018436.3:intron;ESP6500_GL=ALLC;ESP6500_GRCh38_POSITION=2:3674042;ESP6500_GTC=987,2458,2315;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018436.3:c.34-33G>A;ESP6500_MAF=34.7685,46.8555,38.4722;ESP6500_TAC=4432,7088	GT:AD:DP:GQ:PL	0/1:25,18:43:99:346,0,693
chr2	3674139	rs12105179	A	G	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.144;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.475;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.778;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12105179;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|ALLC|ALLC|transcript|NM_018436.3|protein_coding|3/11|c.84+14A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2549;p3_1000G_AF=0.508986;p3_1000G_AFR_AF=0.9463;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=18972;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.4433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3721729;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3181,447;ESP6500_AA_GTC=1412,357,45;ESP6500_CDS_SIZES=NM_018436.3:1176;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=34;ESP6500_EA_AC=3850,4276;ESP6500_EA_GTC=963,1924,1176;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018436.3:intron;ESP6500_GL=ALLC;ESP6500_GRCh38_POSITION=2:3674139;ESP6500_GTC=2375,2281,1221;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018436.3:c.84+14A>G;ESP6500_MAF=47.3788,12.3208,40.1821;ESP6500_TAC=7031,4723	GT:AD:DP:GQ:PL	0/1:15,18:33:99:452,0,354
chr2	3678374	rs72769388	C	T	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.482;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.411;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72769388;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|ALLC|ALLC|transcript|NM_018436.3|protein_coding|3/11|c.85-94C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=867;p3_1000G_AF=0.173123;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=19902;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3725964;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,16:33:99:442,0,482
chr2	3678573	rs2043080	T	C	612.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.315;SOR=0.873;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2043080;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|ALLC|ALLC|transcript|NM_018436.3|protein_coding|4/11|c.172+18T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2263;p3_1000G_AF=0.451877;p3_1000G_AFR_AF=0.7035;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=20752;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.4751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3726163;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2640,1248;ESP6500_AA_GTC=893,854,197;ESP6500_CDS_SIZES=NM_018436.3:1176;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=71;ESP6500_EA_AC=4025,4281;ESP6500_EA_GTC=988,2049,1116;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018436.3:intron;ESP6500_GL=ALLC;ESP6500_GRCh38_POSITION=2:3678573;ESP6500_GTC=1881,2903,1313;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018436.3:c.172+18T>C;ESP6500_MAF=48.4589,32.0988,45.342;ESP6500_TAC=6665,5529	GT:AD:DP:GQ:PL	0/1:26,23:49:99:641,0,732
chr2	3701494	rs11689171	T	C	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.67;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.743;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11689171;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding||c.-2258T>C|||||2098|,C|intron_variant|MODIFIER|ALLC|ALLC|transcript|NM_018436.3|protein_coding|10/11|c.851-18T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1476;p3_1000G_AF=0.294728;p3_1000G_AFR_AF=0.3585;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=19940;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.3748;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3749084;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1328,2556;ESP6500_AA_GTC=226,876,840;ESP6500_CDS_SIZES=NM_018436.3:1176;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=40;ESP6500_EA_AC=2860,5412;ESP6500_EA_GTC=509,1842,1785;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018436.3:intron;ESP6500_GL=ALLC;ESP6500_GRCh38_POSITION=2:3701494;ESP6500_GTC=735,2718,2625;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018436.3:c.851-18T>C;ESP6500_MAF=34.5745,34.1916,34.4521;ESP6500_TAC=4188,7968	GT:AD:DP:GQ:PL	0/1:8,15:23:99:412,0,185
chr2	3701561	rs201406139;rs34308920;rs66473381;rs759577715;rs796898978	GGAA	G	451.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.196;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=2.01;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34308920,rs66473381,rs201406139;dbSNPBuildID=132,144,146,137,130;ANN=G|disruptive_inframe_deletion|MODERATE|ALLC|ALLC|transcript|NM_018436.3|protein_coding|11/12|c.908_910delAAG|p.Glu303del|1069/1444|908/1176|303/391||INFO_REALIGN_3_PRIME,G|upstream_gene_variant|MODIFIER|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding||c.-2190_-2188delGAA|||||2030|;p3_1000G_AC=2063;p3_1000G_AF=0.411941;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=17803;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.4404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3749151;p3_1000G_GRCH37_REF=GGAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=INDEL;ESP6500_AA_AC=2273,1463;ESP6500_AA_GTC=704,865,299;ESP6500_CDS_SIZES=NM_018436.3:1176;ESP6500_CG=0.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=58;ESP6500_EA_AC=3628,4278;ESP6500_EA_GTC=863,1902,1188;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018436.3:coding;ESP6500_GL=ALLC;ESP6500_GRCh38_POSITION=2:3701561;ESP6500_GTC=1567,2767,1487;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018436.3:c.901_903del3;ESP6500_HGVS_PROTEIN_VAR=NM_018436.3:p.(E301del1);ESP6500_MAF=45.8892,39.1595,49.3128;ESP6500_TAC=5901,5741	GT:AD:DP:GQ:PL	0/1:14,20:34:99:489,0,516
chr2	3701677	rs11681270	G	A	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.12;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.41;SOR=1.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11681270;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding||c.-2075G>A|||||1915|,A|intron_variant|MODIFIER|ALLC|ALLC|transcript|NM_018436.3|protein_coding|11/11|c.975+41G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1476;p3_1000G_AF=0.294728;p3_1000G_AFR_AF=0.3638;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=18956;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3749267;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1375,2451;ESP6500_AA_GTC=240,895,778;ESP6500_CDS_SIZES=NM_018436.3:1176;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=41;ESP6500_EA_AC=2842,5414;ESP6500_EA_GTC=502,1838,1788;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018436.3:intron;ESP6500_GL=ALLC;ESP6500_GRCh38_POSITION=2:3701677;ESP6500_GTC=742,2733,2566;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018436.3:c.975+41G>A;ESP6500_MAF=34.4234,35.9383,34.9032;ESP6500_TAC=4217,7865	GT:AD:DP:GQ:PL	0/1:10,18:28:99:418,0,236
chr2	3704016	rs56104311	C	T	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.946;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=0.82;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56104311;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding|1/11|c.265C>T|p.Arg89Cys|425/1482|265/1095|89/364||,T|downstream_gene_variant|MODIFIER|ALLC|ALLC|transcript|NM_018436.3|protein_coding||c.*1453C>T|||||1346|;p3_1000G_AA=C|||;p3_1000G_AC=688;p3_1000G_AF=0.13738;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=7018;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3751606;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:249,0,289
chr2	3708483	rs17505481	G	A	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.058;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.1;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17505481;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding|1/10|c.288-66G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1651;p3_1000G_AF=0.329673;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=18512;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0.4483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3756073;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:183,0,207
chr2	3726929	rs357941	T	C	873.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs357941;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding|2/10|c.340-74T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4783;p3_1000G_AF=0.955072;p3_1000G_AFR_AF=0.8396;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=15546;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3774519;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:3726927_G_T:902,78,0
chr2	3727198	rs79382070	C	T	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.994;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.783;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79382070;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding|3/10|c.416+119C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=599;p3_1000G_AF=0.119609;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=13022;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3774788;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:300,0,252
chr2	3741793	rs2249380	A	C	360.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2249380;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding|3/10|c.417-127A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4154;p3_1000G_AF=0.829473;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=19252;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.5944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3789383;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:389,30,0
chr2	3752793	rs357969	C	T	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.439;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-0.931;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs357969;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding|5/11|c.576C>T|p.Gly192Gly|736/1482|576/1095|192/364||;p3_1000G_AA=c|||;p3_1000G_AC=2569;p3_1000G_AF=0.512979;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=15986;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.5487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3800383;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:149,0,284
chr2	3752906	rs357968	C	T	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.034;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.329;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs357968;dbSNPBuildID=79;ANN=T|splice_region_variant&intron_variant|LOW|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding|5/10|c.683+6C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2544;p3_1000G_AF=0.507987;p3_1000G_AFR_AF=0.1475;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=15722;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.5497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3800496;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,10:23:99:250,0,348
chr2	3767660	rs10180257	A	G	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.18;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=0.563;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10180257;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|DCDC2C|DCDC2C|transcript|NM_001287444.1|protein_coding|6/10|c.727-94A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3576;p3_1000G_AF=0.714058;p3_1000G_AFR_AF=0.6362;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=16762;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3815250;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:99:267,0,118
chr2	6861102	rs3085147	ACG	A	503.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3085147;dbSNPBuildID=102;ANN=A|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_207315.3|protein_coding|3/4|c.992+80_992+81delCG||||||,A|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_001256478.1|protein_coding|3/3|c.992+80_992+81delCG||||||,A|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NR_046236.1|pseudogene|3/4|n.527+80_527+81delCG||||||,A|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_001256477.1|protein_coding|3/3|c.992+80_992+81delCG||||||;p3_1000G_AC=2533;p3_1000G_AF=0.505791;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=15825;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.5308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7001233;p3_1000G_GRCH37_REF=ACG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4867;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:39:1|1:6861102_ACG_A:541,39,0
chr2	6861118	rs202012587;rs57039812	ACACACACACC	A	467.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.23;SOR=2.67;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57039812,rs202012587;dbSNPBuildID=137,129;ANN=A|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_207315.3|protein_coding|3/4|c.992+56_992+65delGGTGTGTGTG||||||,A|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_001256478.1|protein_coding|3/3|c.992+56_992+65delGGTGTGTGTG||||||,A|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NR_046236.1|pseudogene|3/4|n.527+56_527+65delGGTGTGTGTG||||||,A|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_001256477.1|protein_coding|3/3|c.992+56_992+65delGGTGTGTGTG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:6861102_ACG_A:505,36,0
chr2	6864938	rs2595172	C	T	642.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.95;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2595172;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_207315.3|protein_coding|1/4|c.675+84G>A||||||,T|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_001256478.1|protein_coding|1/3|c.675+84G>A||||||,T|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NR_046236.1|pseudogene|1/4|n.211-1360G>A||||||,T|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_001256477.1|protein_coding|1/3|c.675+84G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4683;p3_1000G_AF=0.935104;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=17854;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7005069;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:671,69,0
chr2	6865238	rs11678810	A	G	848.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11678810;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|CMPK2|CMPK2|transcript|NM_207315.3|protein_coding|1/5|c.459T>C|p.Cys153Cys|582/3014|459/1350|153/449||,G|synonymous_variant|LOW|CMPK2|CMPK2|transcript|NM_001256478.1|protein_coding|1/4|c.459T>C|p.Cys153Cys|582/1241|459/1101|153/366||,G|synonymous_variant|LOW|CMPK2|CMPK2|transcript|NM_001256477.1|protein_coding|1/4|c.459T>C|p.Cys153Cys|582/2149|459/1230|153/409||,G|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NR_046236.1|pseudogene|1/4|n.210+1188T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4998;p3_1000G_AF=0.998003;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=10694;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7005369;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3605,39;ESP6500_AA_GTC=1783,39,0;ESP6500_CDS_SIZES=NM_207315.3:1350,NM_001256478.1:1101,NM_001256477.1:1230;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=4;ESP6500_EA_AC=7874,0;ESP6500_EA_GTC=3937,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207315.3:coding-synonymous,NM_001256478.1:coding-synonymous,NM_001256477.1:coding-synonymous;ESP6500_GL=CMPK2;ESP6500_GRCh38_POSITION=2:6865238;ESP6500_GTC=5720,39,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207315.3:c.459T>C,NM_001256478.1:c.459T>C,NM_001256477.1:c.459T>C;ESP6500_HGVS_PROTEIN_VAR=NM_207315.3:p.(C153),NM_001256478.1:p.(C153),NM_001256477.1:p.(C153);ESP6500_MAF=0.0,1.0703,0.3386;ESP6500_TAC=11479,39	GT:AD:DP:GQ:PL	1/1:0,29:29:87:877,87,0
chr2	6865861	rs4669108	C	T	50.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4669108;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_207315.3|protein_coding||c.-165G>A|||||42|,T|upstream_gene_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_001256478.1|protein_coding||c.-165G>A|||||42|,T|upstream_gene_variant|MODIFIER|CMPK2|CMPK2|transcript|NM_001256477.1|protein_coding||c.-165G>A|||||42|,T|intron_variant|MODIFIER|CMPK2|CMPK2|transcript|NR_046236.1|pseudogene|1/4|n.210+565G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4691;p3_1000G_AF=0.936701;p3_1000G_AFR_AF=0.767;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=9500;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7005992;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:78,6,0
chr2	6877772	rs10182815	A	G	515.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10182815;dbSNPBuildID=119;ANN=G|5_prime_UTR_variant|MODIFIER|RSAD2|RSAD2|transcript|NM_080657.4|protein_coding|1/6|c.-29A>G|||||29|;p3_1000G_AA=G|||;p3_1000G_AC=4775;p3_1000G_AF=0.953474;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=20432;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7017903;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3833,573;ESP6500_AA_AGE=245.6+/-254.5;ESP6500_AA_GTC=1670,493,40;ESP6500_CDS_SIZES=NM_080657.4:1086;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=44;ESP6500_EA_AC=8592,8;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=4292,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080657.4:utr-5;ESP6500_GL=RSAD2;ESP6500_GRCh38_POSITION=2:6877772;ESP6500_GTC=5962,501,40;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080657.4:c.-29A>G;ESP6500_MAF=0.093,13.005,4.4672;ESP6500_TAC=12425,581	GT:AD:DP:GQ:PL	1/1:0,17:17:51:544,51,0
chr2	6887192	rs9917321	T	A	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.489;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.43;ReadPosRankSum=0.718;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9917321;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|RSAD2|RSAD2|transcript|NM_080657.4|protein_coding|3/5|c.738+28T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3683;p3_1000G_AF=0.735423;p3_1000G_AFR_AF=0.5431;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=18391;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.8141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7027323;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2651,1755;ESP6500_AA_AGE=623.6+/-394.2;ESP6500_AA_GTC=814,1023,366;ESP6500_CDS_SIZES=NM_080657.4:1086;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=30;ESP6500_EA_AC=7069,1531;ESP6500_EA_AGE=729.1+/-406.7;ESP6500_EA_GTC=2899,1271,130;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080657.4:intron;ESP6500_GL=RSAD2;ESP6500_GRCh38_POSITION=2:6887192;ESP6500_GTC=3713,2294,496;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_080657.4:c.738+28T>A;ESP6500_MAF=17.8023,39.832,25.2653;ESP6500_TAC=9720,3286	GT:AD:DP:GQ:PL	0/1:4,7:11:96:231,0,96
chr2	6996795	rs11898648	C	A	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.022;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=0.475;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11898648;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|RNF144A|RNF144A|transcript|NM_014746.4|protein_coding|2/8|c.-11-121C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1204;p3_1000G_AF=0.240415;p3_1000G_AFR_AF=0.4085;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=18161;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7136926;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:193,0,455
chr2	6996936	rs364891	A	G	2583.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs364891;dbSNPBuildID=80;ANN=G|missense_variant|MODERATE|RNF144A|RNF144A|transcript|NM_014746.4|protein_coding|3/9|c.10A>G|p.Thr4Ala|452/5739|10/879|4/292||;p3_1000G_AA=G|||;p3_1000G_AC=4216;p3_1000G_AF=0.841853;p3_1000G_AFR_AF=0.8684;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=17436;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.8022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7137067;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3776,630;ESP6500_AA_AGE=272.2+/-270.6;ESP6500_AA_GTC=1616,544,43;ESP6500_CDS_SIZES=NM_014746.3:879;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=81;ESP6500_EA_AC=6814,1786;ESP6500_EA_AGE=322.2+/-315.5;ESP6500_EA_GTC=2692,1430,178;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014746.3:missense;ESP6500_GL=RNF144A;ESP6500_GRCh38_POSITION=2:6996936;ESP6500_GS=58;ESP6500_GTC=4308,1974,221;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014746.3:c.10A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014746.3:p.(T4A);ESP6500_MAF=20.7674,14.2987,18.576;ESP6500_PH=benign:0.0;ESP6500_TAC=10590,2416	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2612,248,0
chr2	7014695	rs1491492708;rs3215278;rs398080010;rs556538791;rs541962169	AT	A	388.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.445;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.532;SOR=0.486;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3215278;dbSNPBuildID=142,151,138,106;ANN=A|splice_region_variant&intron_variant|LOW|RNF144A|RNF144A|transcript|NM_014746.4|protein_coding|4/8|c.241-8delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=633;p3_1000G_AF=0.126398;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=20488;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7154826;p3_1000G_GRCH37_REF=AT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:11,17:28:99:426,0,235
chr2	7020359	rs309306	C	T	90.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.718;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs309306;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|RNF144A|RNF144A|transcript|NM_014746.4|protein_coding|5/8|c.302-114C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2520;p3_1000G_AF=0.503195;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=18509;p3_1000G_EAS_AF=0.7192;p3_1000G_EUR_AF=0.4056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7160490;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:119,0,265
chr2	7024352	rs6709878	C	T	1246.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=2.362;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6709878;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RNF144A|RNF144A|transcript|NM_014746.4|protein_coding|6/8|c.510-17C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2564;p3_1000G_AF=0.511981;p3_1000G_AFR_AF=0.7655;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=17461;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7164483;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3002,1404;ESP6500_AA_AGE=688.3+/-405.0;ESP6500_AA_GTC=1050,902,251;ESP6500_CDS_SIZES=NM_014746.3:879;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=59;ESP6500_EA_AC=1825,6775;ESP6500_EA_AGE=327.6+/-317.9;ESP6500_EA_GTC=192,1441,2667;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014746.3:intron;ESP6500_GL=RNF144A;ESP6500_GRCh38_POSITION=2:7024352;ESP6500_GTC=1242,2343,2918;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014746.3:c.510-17C>T;ESP6500_MAF=21.2209,31.8656,37.1136;ESP6500_TAC=4827,8179	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1275,117,0
chr2	7030257	rs377057460	CTGTGTGTGTGTGTGTG	C	724.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.03;SOR=4.294;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs377057460,rs67785882;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|RNF144A|RNF144A|transcript|NM_014746.4|protein_coding|8/8|c.747+76_747+91delGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,13:13:99:762,170,159
chr2	7030257	.	CTGTGTGTGTGTGTGTG	CTGTG	724.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.03;SOR=4.294;DEL;HET;VARTYPE=DEL;ANN=CTGTG|intron_variant|MODIFIER|RNF144A|RNF144A|transcript|NM_014746.4|protein_coding|8/8|c.747+80_747+91delGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,4:4:99:762,549,532
chr2	7068193	rs1869298	G	T	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.297;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.485;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.44;SOR=0.4;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1869298;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|LOC101929452|LOC101929452|transcript|NR_110252.1|pseudogene|2/2|n.343-5279C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1880;p3_1000G_AF=0.375399;p3_1000G_AFR_AF=0.3994;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=20622;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7208324;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,14:29:99:401,0,409
chr2	7068291	rs1869297	T	C	482.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.68;SOR=0.824;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1869297;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|LOC101929452|LOC101929452|transcript|NR_110252.1|pseudogene|2/2|n.343-5377A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1874;p3_1000G_AF=0.374201;p3_1000G_AFR_AF=0.3949;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=19936;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7208422;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,20:41:99:511,0,509
chr2	7073125	rs7563828	C	T	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.075;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=-0.736;SOR=0.752;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7563828;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LOC101929452|LOC101929452|transcript|NR_110252.1|pseudogene|2/2|n.342+3757G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1588;p3_1000G_AF=0.317093;p3_1000G_AFR_AF=0.3359;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=20126;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.168;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7213256;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,8:25:99:189,0,642
chr2	7073415	rs10680838	A	ACTG	515.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.405;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=3.469;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.65;SOR=1.375;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10680838;dbSNPBuildID=126;ANN=ACTG|intron_variant|MODIFIER|LOC101929452|LOC101929452|transcript|NR_110252.1|pseudogene|2/2|n.342+3466_342+3467insCAG||||||;p3_1000G_AC=1693;p3_1000G_AF=0.338059;p3_1000G_AFR_AF=0.413;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=21424;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.168;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7213546;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:24,15:39:99:553,0,1288
chr2	8682762	rs879016206	CA	C	136.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.563;SOR=2.093;DEL;HET;VARTYPE=DEL;dbSNPBuildID=147;ANN=C|upstream_gene_variant|MODIFIER|ID2-AS1|ID2-AS1|transcript|NR_110153.1|pseudogene||n.-902delT|||||902|,C|upstream_gene_variant|MODIFIER|ID2-AS1|ID2-AS1|transcript|NR_110154.1|pseudogene||n.-900delT|||||900|,C|intron_variant|MODIFIER|ID2|ID2|transcript|NM_002166.4|protein_coding|1/2|c.349-56delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,6:14:99:174,0,165
chr2	8682776	rs558226738	A	C	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.089;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.143;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=-0.032;SOR=0.214;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|upstream_gene_variant|MODIFIER|ID2-AS1|ID2-AS1|transcript|NR_110153.1|pseudogene||n.-915T>G|||||915|,C|upstream_gene_variant|MODIFIER|ID2-AS1|ID2-AS1|transcript|NR_110154.1|pseudogene||n.-913T>G|||||913|,C|intron_variant|MODIFIER|ID2|ID2|transcript|NM_002166.4|protein_coding|1/2|c.349-67A>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=13;p3_1000G_AF=0.00259585;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20718;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8822906;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,14:23:99:0|1:8682776_A_C:434,0,215
chr2	8682782	rs3845751	A	C	997.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34272236,rs3845751;dbSNPBuildID=108;ANN=C|upstream_gene_variant|MODIFIER|ID2-AS1|ID2-AS1|transcript|NR_110153.1|pseudogene||n.-921T>G|||||921|,C|upstream_gene_variant|MODIFIER|ID2-AS1|ID2-AS1|transcript|NR_110154.1|pseudogene||n.-919T>G|||||919|,C|intron_variant|MODIFIER|ID2|ID2|transcript|NM_002166.4|protein_coding|1/2|c.349-61A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:8682776_A_C:1026,75,0
chr2	8730684	rs6431959	A	G	960.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.61;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6431959;dbSNPBuildID=116;ANN=G|3_prime_UTR_variant|MODIFIER|KIDINS220|KIDINS220|transcript|NM_020738.2|protein_coding|30/30|c.*36T>C|||||36|;p3_1000G_AA=G|||;p3_1000G_AC=4776;p3_1000G_AF=0.953674;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=21251;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.993;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8870814;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3386,512;ESP6500_AA_GTC=1476,434,39;ESP6500_CDS_SIZES=NM_020738.2:5316;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=34;ESP6500_EA_AC=8205,95;ESP6500_EA_GTC=4057,91,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020738.2:utr-3;ESP6500_GL=KIDINS220;ESP6500_GRCh38_POSITION=2:8730684;ESP6500_GTC=5533,525,41;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020738.2:c.*36T>C;ESP6500_MAF=1.1446,13.1349,4.9762;ESP6500_TAC=11591,607	GT:AD:DP:GQ:PL	1/1:0,27:27:81:989,81,0
chr2	8747780	rs1978841	A	T	245.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.72;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1978841;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|KIDINS220|KIDINS220|transcript|NM_020738.2|protein_coding|25/29|c.3528+107T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2223;p3_1000G_AF=0.44389;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=18349;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.5547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8887910;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:274,24,0
chr2	8770606	rs144280481	GT	G	12.96	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.732;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=0.414;SOR=1.27;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs144280481;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|KIDINS220|KIDINS220|transcript|NM_020738.2|protein_coding|22/29|c.3011+63delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2070;p3_1000G_AF=0.413339;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=14351;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.4245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8910736;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,3:8:50:50,0,98
chr2	8770857	rs12476359	A	T	311.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12476359;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|KIDINS220|KIDINS220|transcript|NM_020738.2|protein_coding|21/29|c.2849-25T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4911;p3_1000G_AF=0.980631;p3_1000G_AFR_AF=0.9735;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=15680;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.9901;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8910987;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3493,91;ESP6500_AA_GTC=1702,89,1;ESP6500_CDS_SIZES=NM_020738.2:5316;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=7973,157;ESP6500_EA_GTC=3911,151,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020738.2:intron;ESP6500_GL=KIDINS220;ESP6500_GRCh38_POSITION=2:8770857;ESP6500_GTC=5613,240,4;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020738.2:c.2849-25T>A;ESP6500_MAF=1.9311,2.5391,2.1171;ESP6500_TAC=11466,248	GT:AD:DP:GQ:PL	1/1:0,11:11:33:340,33,0
chr2	8770880	rs17630893	T	C	201.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.83;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17630893;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|KIDINS220|KIDINS220|transcript|NM_020738.2|protein_coding|21/29|c.2849-48A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2242;p3_1000G_AF=0.447684;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=16091;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.5567;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8911010;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=706,2866;ESP6500_AA_GTC=82,542,1162;ESP6500_CDS_SIZES=NM_020738.2:5316;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=29;ESP6500_EA_AC=4731,3379;ESP6500_EA_GTC=1375,1981,699;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020738.2:intron;ESP6500_GL=KIDINS220;ESP6500_GRCh38_POSITION=2:8770880;ESP6500_GTC=1457,2523,1861;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020738.2:c.2849-48A>G;ESP6500_MAF=41.6646,19.7648,46.5417;ESP6500_TAC=5437,6245	GT:AD:DP:GQ:PL	1/1:0,7:7:21:230,21,0
chr2	8776717	rs4669338	A	T	920.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4669338;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|KIDINS220|KIDINS220|transcript|NM_020738.2|protein_coding|21/29|c.2848+31T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4750;p3_1000G_AF=0.948482;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=16956;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.9901;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8916847;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3150,512;ESP6500_AA_GTC=1360,430,41;ESP6500_CDS_SIZES=NM_020738.2:5316;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=44;ESP6500_EA_AC=8003,159;ESP6500_EA_GTC=3923,157,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020738.2:intron;ESP6500_GL=KIDINS220;ESP6500_GRCh38_POSITION=2:8776717;ESP6500_GTC=5283,587,42;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020738.2:c.2848+31T>A;ESP6500_MAF=1.9481,13.9814,5.6749;ESP6500_TAC=11153,671	GT:AD:DP:GQ:PL	1/1:0,32:32:96:949,96,0
chr2	8803161	rs2356658	G	A	361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.15;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2356658;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|KIDINS220|KIDINS220|transcript|NM_020738.2|protein_coding|7/29|c.604-34C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4977;p3_1000G_AF=0.99381;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=19779;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8943291;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3540,78;ESP6500_AA_GTC=1732,76,1;ESP6500_CDS_SIZES=NM_020738.2:5316;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=32;ESP6500_EA_AC=8144,0;ESP6500_EA_GTC=4072,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020738.2:intron;ESP6500_GL=KIDINS220;ESP6500_GRCh38_POSITION=2:8803161;ESP6500_GTC=5804,76,1;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020738.2:c.604-34C>T;ESP6500_MAF=0.0,2.1559,0.6632;ESP6500_TAC=11684,78	GT:AD:DP:GQ:PL	1/1:0,12:12:36:390,36,0
chr2	8858645	rs35543955;rs776403598	CA	C	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.191;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=0.723;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35543955;dbSNPBuildID=144,126;ANN=C|3_prime_UTR_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NM_138799.3|protein_coding|13/13|c.*33delT|||||33|,C|3_prime_UTR_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NM_001321265.1|protein_coding|12/12|c.*33delT|||||33|,C|3_prime_UTR_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NM_001321266.1|protein_coding|11/11|c.*33delT|||||33|,C|3_prime_UTR_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NM_001321267.1|protein_coding|14/14|c.*33delT|||||33|,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135598.1|pseudogene|14/14|n.1784delT||||||,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135599.1|pseudogene|13/13|n.2051delT||||||,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135600.1|pseudogene|13/13|n.1638delT||||||,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135601.1|pseudogene|11/11|n.1427delT||||||,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135602.1|pseudogene|12/12|n.1599delT||||||,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135603.1|pseudogene|14/14|n.1825delT||||||,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135604.1|pseudogene|13/13|n.1748delT||||||,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135605.1|pseudogene|12/12|n.1560delT||||||,C|non_coding_transcript_exon_variant|MODIFIER|MBOAT2|MBOAT2|transcript|NR_135606.1|pseudogene|13/13|n.1651delT||||||	GT:AD:DP:GQ:PL	0/1:8,4:12:75:75,0,174
chr2	9271039	rs2666210	T	C	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.91;MQRankSum=-0.589;QD=16.42;ReadPosRankSum=0.738;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2666210;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|1/27|c.127-8278T>C||||||,C|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|1/26|c.127-8278T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=4071;p3_1000G_AF=0.812899;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=13966;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.8887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9411168;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:176,0,130
chr2	9271090	rs2709596	G	A	131.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.076;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.36;MQRankSum=-1.162;QD=8.24;ReadPosRankSum=2.25;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2709596;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|1/27|c.127-8227G>A||||||,A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|1/26|c.127-8227G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=3173;p3_1000G_AF=0.633586;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=15210;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.6392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9411219;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:160,0,305
chr2	9279282	rs10193043	G	A	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.108;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=-1.117;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10193043;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|1/27|c.127-35G>A||||||,A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|1/26|c.127-35G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=659;p3_1000G_AF=0.131589;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=21028;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0.2555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9419411;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2064,2342;ESP6500_AA_AGE=606.0+/-390.6;ESP6500_AA_GTC=503,1058,642;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=111;ESP6500_EA_AC=7752,848;ESP6500_EA_AGE=193.4+/-239.1;ESP6500_EA_GTC=3499,754,47;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003887.2:intron,NM_001135191.1:intron;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9279282;ESP6500_GTC=4002,1812,689;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.127-35G>A,NM_001135191.1:c.127-35G>A;ESP6500_MAF=9.8605,46.8452,24.5271;ESP6500_TAC=9816,3190	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,12:22:99:0|1:9279282_G_A:471,0,548
chr2	9279286	rs10170149	C	T	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.039;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.08;ReadPosRankSum=-0.795;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10170149;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|1/27|c.127-31C>T||||||,T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|1/26|c.127-31C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2744;p3_1000G_AF=0.547923;p3_1000G_AFR_AF=0.3048;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=20184;p3_1000G_EAS_AF=0.7073;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9419415;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1645,2761;ESP6500_AA_AGE=504.2+/-365.8;ESP6500_AA_GTC=323,999,881;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=117;ESP6500_EA_AC=5322,3278;ESP6500_EA_AGE=647.7+/-400.4;ESP6500_EA_GTC=1653,2016,631;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003887.2:intron,NM_001135191.1:intron;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9279286;ESP6500_GTC=1976,3015,1512;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.127-31C>T,NM_001135191.1:c.127-31C>T;ESP6500_MAF=38.1163,37.3355,46.4324;ESP6500_TAC=6967,6039	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,11:21:99:0|1:9279282_G_A:471,0,548
chr2	9279454	rs10193254	G	A	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.671;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=6.55;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-1.714;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10193254;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|2/27|c.199+65G>A||||||,A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|2/26|c.199+65G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=495;p3_1000G_AF=0.0988419;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=21703;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9419583;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=151,1233;ESP6500_AA_GTC=8,135,549;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=42;ESP6500_EA_AC=311,2871;ESP6500_EA_GTC=17,277,1297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003887.2:intron,NM_001135191.1:intron;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9279454;ESP6500_GTC=25,412,1846;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.199+65G>A,NM_001135191.1:c.199+65G>A;ESP6500_MAF=9.7737,10.9104,10.1183;ESP6500_TAC=462,4104	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,10:23:99:0|1:9279454_G_A:324,0,752
chr2	9279479	rs41264165	G	A	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.453;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.913;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41264165;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|2/27|c.199+90G>A||||||,A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|2/26|c.199+90G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=457;p3_1000G_AF=0.091254;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=21912;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9419608;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:0|1:9279454_G_A:292,0,648
chr2	9297284	rs3811600	C	T	391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.393;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.669;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811600;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|2/27|c.200-16C>T||||||,T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|2/26|c.200-16C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=423;p3_1000G_AF=0.0844649;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=19407;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.1054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9437413;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=557,3849;ESP6500_AA_AGE=251.8+/-258.4;ESP6500_AA_GTC=40,477,1686;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=73;ESP6500_EA_AC=773,7827;ESP6500_EA_AGE=183.5+/-231.7;ESP6500_EA_GTC=37,699,3564;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003887.2:intron,NM_001135191.1:intron;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9297284;ESP6500_GTC=77,1176,5250;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.200-16C>T,NM_001135191.1:c.200-16C>T;ESP6500_MAF=8.9884,12.6419,10.226;ESP6500_TAC=1330,11676	GT:AD:DP:GQ:PL	0/1:14,16:30:99:420,0,380
chr2	9318669	rs13426594	G	A	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.109;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.39;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13426594;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|4/27|c.420+71G>A||||||,A|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|4/26|c.420+71G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=392;p3_1000G_AF=0.0782748;p3_1000G_AFR_AF=0.1074;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=18833;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9458798;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,12:22:99:314,0,240
chr2	9323325	rs12475160	C	T	256.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12475160;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|6/27|c.600+75C>T||||||,T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|6/26|c.600+75C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3101;p3_1000G_AF=0.619209;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=18285;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.6332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9463454;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:285,24,0
chr2	9350888	rs4669385	C	T	2112.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=1.117;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4669385;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|12/28|c.1104C>T|p.Leu368Leu|1444/5717|1104/3021|368/1006||,T|synonymous_variant|LOW|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|12/27|c.1104C>T|p.Leu368Leu|1444/5582|1104/2886|368/961||;p3_1000G_AA=T|||;p3_1000G_AC=4412;p3_1000G_AF=0.88099;p3_1000G_AFR_AF=0.677;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=20584;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9491017;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3242,1164;ESP6500_AA_AGE=410.6+/-335.4;ESP6500_AA_GTC=1204,834,165;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=-5.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=72;ESP6500_EA_AC=8577,23;ESP6500_EA_AGE=14.6+/-50.1;ESP6500_EA_GTC=4277,23,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003887.2:coding-synonymous,NM_001135191.1:coding-synonymous;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9350888;ESP6500_GTC=5481,857,165;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.1104C>T,NM_001135191.1:c.1104C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003887.2:p.(L368),NM_001135191.1:p.(L368);ESP6500_MAF=0.2674,26.4185,9.1266;ESP6500_TAC=11819,1187	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2141,213,0
chr2	9356162	rs2709591	T	C	647.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=2.169;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.341;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2709591;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|13/27|c.1161-17T>C||||||,C|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|13/26|c.1161-17T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2856;p3_1000G_AF=0.570288;p3_1000G_AFR_AF=0.938;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=20812;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.5785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9496291;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3856,550;ESP6500_AA_AGE=248.4+/-256.2;ESP6500_AA_GTC=1690,476,37;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=161;ESP6500_EA_AC=5155,3445;ESP6500_EA_AGE=506.3+/-376.6;ESP6500_EA_GTC=1566,2023,711;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003887.2:intron,NM_001135191.1:intron;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9356162;ESP6500_GTC=3256,2499,748;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.1161-17T>C,NM_001135191.1:c.1161-17T>C;ESP6500_MAF=40.0581,12.483,30.7166;ESP6500_TAC=9011,3995	GT:AD:DP:GQ:PL	0/1:33,26:59:99:676,0,822
chr2	9374970	rs61275202;rs764568527	T	TA	14.87	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.602;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=0.269;SOR=0.283;INS;HET;VARTYPE=INS;dbSNP138_ID=rs61275202;dbSNPBuildID=144,129;ANN=TA|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|17/27|c.1746+40dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|17/26|c.1746+40dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:7,4:11:52:52,0,148
chr2	9375028	rs6724714	C	T	61.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=0.328;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6724714;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|17/27|c.1746+84C>T||||||,T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|17/26|c.1746+84C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1553;p3_1000G_AF=0.310104;p3_1000G_AFR_AF=0.8033;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=12280;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9515157;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:90:90,0,120
chr2	9380830	rs12467000	C	T	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.698;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.31;ReadPosRankSum=0.349;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12467000;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|20/27|c.2016+22C>T||||||,T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|20/26|c.2016+22C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=346;p3_1000G_AF=0.0690895;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=18037;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0.1074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9520959;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=347,4059;ESP6500_AA_AGE=175.5+/-204.9;ESP6500_AA_GTC=15,317,1871;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=51;ESP6500_EA_AC=932,7668;ESP6500_EA_AGE=200.7+/-244.4;ESP6500_EA_GTC=46,840,3414;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003887.2:intron,NM_001135191.1:intron;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9380830;ESP6500_GTC=61,1157,5285;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.2016+22C>T,NM_001135191.1:c.2016+22C>T;ESP6500_MAF=10.8372,7.8756,9.8339;ESP6500_TAC=1279,11727	GT:AD:DP:GQ:PL	0/1:5,17:22:99:453,0,121
chr2	9388407	rs2715860	G	C	491.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.261;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=1.63;SOR=0.549;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2715860;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|22/28|c.2244G>C|p.Glu748Asp|2584/5717|2244/3021|748/1006||,C|missense_variant|MODERATE|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|22/27|c.2244G>C|p.Glu748Asp|2584/5582|2244/2886|748/961||;p3_1000G_AA=C|||;p3_1000G_AC=2233;p3_1000G_AF=0.445887;p3_1000G_AFR_AF=0.9153;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=16901;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0.3211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9528536;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3573,833;ESP6500_AA_AGE=330.2+/-301.4;ESP6500_AA_GTC=1455,663,85;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=2918,5682;ESP6500_EA_AGE=669.5+/-402.7;ESP6500_EA_GTC=509,1900,1891;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003887.2:missense,NM_001135191.1:missense;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9388407;ESP6500_GS=45,45;ESP6500_GTC=1964,2563,1976;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.2244G>C,NM_001135191.1:c.2244G>C;ESP6500_HGVS_PROTEIN_VAR=NM_003887.2:p.(E748D),NM_001135191.1:p.(E748D);ESP6500_MAF=33.9302,18.906,49.9077;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=6491,6515	GT:AD:DP:GQ:PL	0/1:30,19:49:99:520,0,917
chr2	9388672	rs3811594	T	C	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.291;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=1.18;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811594;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|22/27|c.2383+126T>C||||||,C|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|22/26|c.2383+126T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=538;p3_1000G_AF=0.107428;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=17255;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9528801;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:104,0,176
chr2	9400720	rs10204214	C	T	873.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.625;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0.936;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.35;SOR=0.496;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10204214;dbSNPBuildID=119;ANN=T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding||c.*6114G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding||c.*6114G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene||n.*4961G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding||c.*6114G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding||c.*6114G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding||c.*6114G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding||c.*6114G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding||c.*6114G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene||n.*4961G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene||n.*4961G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene||n.*4961G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene||n.*4961G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene||n.*4961G>A|||||4961|,T|downstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene||n.*4961G>A|||||4961|,T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding|25/27|c.2735-22C>T||||||,T|intron_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding|24/26|c.2600-22C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1015;p3_1000G_AF=0.202676;p3_1000G_AFR_AF=0.5469;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=14819;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9540849;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2000,2400;ESP6500_AA_AGE=609.2+/-391.3;ESP6500_AA_GTC=441,1118,641;ESP6500_CDS_SIZES=NM_003887.2:3021,NM_001135191.1:2886;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=117;ESP6500_EA_AC=973,7621;ESP6500_EA_AGE=773.1+/-407.7;ESP6500_EA_GTC=48,877,3372;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003887.2:intron,NM_001135191.1:intron;ESP6500_GL=ASAP2;ESP6500_GRCh38_POSITION=2:9400720;ESP6500_GTC=489,1995,4013;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003887.2:c.2735-22C>T,NM_001135191.1:c.2600-22C>T;ESP6500_MAF=11.3219,45.4545,22.8798;ESP6500_TAC=2973,10021	GT:AD:DP:GQ:PL	0/1:32,37:69:99:902,0,887
chr2	9407042	rs10929579	G	A	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.464;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.858;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=-0.739;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10929579;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding||c.*3715G>A|||||1359|,A|downstream_gene_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding||c.*3715G>A|||||1359|,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding|6/6|c.532-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding|6/6|c.532-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene|6/6|n.753-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding|6/6|c.532-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding|4/4|c.400-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding|4/4|c.316-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding|6/6|c.532-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding|5/5|c.382-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene|5/5|n.815-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene|4/4|n.507-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene|6/6|n.750-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene|6/6|n.760-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene|5/5|n.685-137C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene|5/5|n.657-137C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1766;p3_1000G_AF=0.352636;p3_1000G_AFR_AF=0.3896;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=19524;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9547171;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:126,0,332
chr2	9408248	rs762375200	A	AT	146.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.619;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-1.068;SOR=1.329;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=AT|downstream_gene_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_003887.2|protein_coding||c.*4921_*4922insT|||||2566|,AT|downstream_gene_variant|MODIFIER|ASAP2|ASAP2|transcript|NM_001135191.1|protein_coding||c.*4921_*4922insT|||||2566|,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding|4/6|c.289-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding|4/6|c.289-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene|4/6|n.510-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding|4/6|c.289-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding|2/4|c.157-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding|2/4|c.73-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding|4/6|c.289-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding|4/5|c.289-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene|4/5|n.722-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene|3/4|n.414-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene|4/6|n.521-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene|4/6|n.521-48dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene|3/5|n.442-44dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene|3/5|n.414-44dupA||||||	GT:AD:DP:GQ:PL	0/1:2,6:8:51:184,0,51
chr2	9412250	rs10929581	C	T	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.352;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=2.26;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10929581;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding|4/6|c.288+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding|4/6|c.288+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene|4/6|n.509+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding|4/6|c.288+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding|2/4|c.156+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding|2/4|c.73-4045G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding|4/6|c.288+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding|4/5|c.288+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene|3/4|n.413+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene|4/6|n.520+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene|4/6|n.520+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene|3/5|n.441+19G>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene|3/5|n.413+19G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene|4/6|n.539G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=989;p3_1000G_AF=0.197484;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=14626;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0.3797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9552379;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=574,3810;ESP6500_AA_GTC=42,490,1660;ESP6500_CDS_SIZES=NM_022334.3:453,NM_004763.3:603;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=30;ESP6500_EA_AC=3317,5273;ESP6500_EA_GTC=685,1947,1663;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022334.3:intron,NM_004763.3:intron;ESP6500_GL=ITGB1BP1;ESP6500_GRCh38_POSITION=2:9412250;ESP6500_GTC=727,2437,3323;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022334.3:c.288+19G>A,NM_004763.3:c.288+19G>A;ESP6500_MAF=38.6147,13.0931,29.9908;ESP6500_TAC=3891,9083	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,5:11:99:0|1:9412250_C_T:180,0,346
chr2	9412254	rs112462761;rs34086297	A	AT	142.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.14;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=2.06;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112462761,rs34086297;dbSNPBuildID=132,126;ANN=AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding|4/6|c.288+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding|4/6|c.288+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene|4/6|n.509+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding|4/6|c.288+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding|2/4|c.156+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding|2/4|c.73-4050dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding|4/6|c.288+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding|4/5|c.288+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene|3/4|n.413+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene|4/6|n.520+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene|4/6|n.520+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene|3/5|n.441+14dupA||||||,AT|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene|3/5|n.413+14dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene|4/6|n.534dupA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,5:12:99:0|1:9412250_C_T:180,0,346
chr2	9414126	rs10208358	G	A	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.696;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=3.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-1.177;SOR=1.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10208358;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding|3/6|c.151+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding|3/6|c.151+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene|3/6|n.372+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding|3/6|c.151+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding|1/4|c.20-1721C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding|2/4|c.72+4500C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding|3/6|c.151+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding|3/5|c.151+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene|3/5|n.383+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene|2/4|n.276+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene|3/6|n.383+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene|3/6|n.383+52C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene|2/5|n.305-1721C>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene|2/5|n.276+52C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=19892;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9554255;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2884,252;ESP6500_AA_GTC=1330,224,14;ESP6500_CDS_SIZES=NM_022334.3:453,NM_004763.3:603;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=123;ESP6500_EA_AC=4409,2755;ESP6500_EA_GTC=1394,1621,567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022334.3:intron,NM_004763.3:intron;ESP6500_GL=ITGB1BP1;ESP6500_GRCh38_POSITION=2:9414126;ESP6500_GTC=2724,1845,581;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022334.3:c.151+52C>T,NM_004763.3:c.151+52C>T;ESP6500_MAF=38.4562,8.0357,29.1942;ESP6500_TAC=7293,3007	GT:AD:DP:GQ:PL	0/1:13,8:21:99:182,0,387
chr2	9414151	rs12474647	A	T	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.16;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-0.371;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12474647;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding|3/6|c.151+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding|3/6|c.151+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene|3/6|n.372+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding|3/6|c.151+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding|1/4|c.20-1746T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding|2/4|c.72+4475T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding|3/6|c.151+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding|3/5|c.151+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene|3/5|n.383+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene|2/4|n.276+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene|3/6|n.383+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene|3/6|n.383+27T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene|2/5|n.305-1746T>A||||||,T|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene|2/5|n.276+27T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=983;p3_1000G_AF=0.196286;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=19230;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0.3797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9554280;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=579,3827;ESP6500_AA_AGE=255.5+/-260.7;ESP6500_AA_GTC=40,499,1664;ESP6500_CDS_SIZES=NM_022334.3:453,NM_004763.3:603;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=151;ESP6500_EA_AC=3357,5243;ESP6500_EA_AGE=498.9+/-374.9;ESP6500_EA_GTC=691,1975,1634;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022334.3:intron,NM_004763.3:intron;ESP6500_GL=ITGB1BP1;ESP6500_GRCh38_POSITION=2:9414151;ESP6500_GTC=731,2474,3298;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_022334.3:c.151+27T>A,NM_004763.3:c.151+27T>A;ESP6500_MAF=39.0349,13.1412,30.263;ESP6500_TAC=3936,9070	GT:AD:DP:GQ:PL	0/1:17,11:28:99:230,0,467
chr2	9414332	rs10185646	C	A	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.842;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10185646;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding|2/6|c.73-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding|2/6|c.73-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene|2/6|n.294-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding|2/6|c.73-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding|1/4|c.20-1927G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding|2/4|c.72+4294G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding|2/6|c.73-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding|2/5|c.73-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene|2/5|n.305-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene|1/4|n.198-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene|2/6|n.305-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene|2/6|n.305-76G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene|2/5|n.305-1927G>T||||||,A|intron_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene|1/5|n.198-76G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2350;p3_1000G_AF=0.469249;p3_1000G_AFR_AF=0.7859;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=20408;p3_1000G_EAS_AF=0.0536;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9554461;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:169,0,145
chr2	9426749	rs62118851	C	T	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.169;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=0;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62118851;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319066.1|protein_coding||c.-8052G>A|||||3573|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319068.1|protein_coding||c.-8052G>A|||||4089|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134951.1|pseudogene||n.-4089G>A|||||4089|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319067.1|protein_coding||c.-8052G>A|||||3573|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319069.1|protein_coding||c.-3358G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_001319070.1|protein_coding||c.-8052G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_004763.4|protein_coding||c.-8052G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NM_022334.4|protein_coding||c.-8052G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134952.1|pseudogene||n.-3180G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134953.1|pseudogene||n.-3180G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134954.1|pseudogene||n.-3180G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134955.1|pseudogene||n.-3180G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134956.1|pseudogene||n.-3180G>A|||||3180|,T|upstream_gene_variant|MODIFIER|ITGB1BP1|ITGB1BP1|transcript|NR_134957.1|pseudogene||n.-3180G>A|||||3180|,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321836.1|protein_coding|2/18|c.62+127C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321833.1|protein_coding|1/17|c.-61-2016C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321834.1|protein_coding|1/17|c.-62+1789C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321835.1|protein_coding|1/17|c.-239-2016C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_016207.3|protein_coding|1/17|c.51-2016C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1032;p3_1000G_AF=0.20607;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=18340;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.3877;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9566878;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:125,0,126
chr2	9429843	rs7589401	A	T	132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.026;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.704;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7589401;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321836.1|protein_coding|3/18|c.127-80A>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321833.1|protein_coding|2/17|c.4-80A>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321834.1|protein_coding|2/17|c.4-80A>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321835.1|protein_coding|2/17|c.-175-80A>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_016207.3|protein_coding|2/17|c.115-80A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2341;p3_1000G_AF=0.467452;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=18609;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9569972;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:161,0,229
chr2	9430925	rs2002044	C	T	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.016;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-0.475;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2002044;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321836.1|protein_coding|5/18|c.353+45C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321833.1|protein_coding|4/17|c.230+45C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321834.1|protein_coding|4/17|c.230+45C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321835.1|protein_coding|4/17|c.52+45C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_016207.3|protein_coding|4/17|c.341+45C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2341;p3_1000G_AF=0.467452;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=20429;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.5825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9571054;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3346,1060;ESP6500_AA_AGE=367.8+/-318.4;ESP6500_AA_GTC=1282,782,139;ESP6500_CDS_SIZES=NM_016207.2:2055;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=41;ESP6500_EA_AC=5241,3359;ESP6500_EA_AGE=489.8+/-372.7;ESP6500_EA_GTC=1630,1981,689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016207.2:intron;ESP6500_GL=CPSF3;ESP6500_GRCh38_POSITION=2:9430925;ESP6500_GTC=2912,2763,828;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016207.2:c.341+45C>T;ESP6500_MAF=39.0581,24.0581,33.9766;ESP6500_TAC=8587,4419	GT:AD:DP:GQ:PL	0/1:16,11:27:99:250,0,456
chr2	9432759	rs12478467	A	T	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.717;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.45;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12478467;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321836.1|protein_coding|6/18|c.531+71A>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321833.1|protein_coding|5/17|c.408+71A>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321834.1|protein_coding|5/17|c.408+71A>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321835.1|protein_coding|5/17|c.102+71A>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_016207.3|protein_coding|5/17|c.519+71A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1008;p3_1000G_AF=0.201278;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=15977;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0.3559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9572888;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:263,0,248
chr2	9432799	rs34003003	C	T	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.07;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34003003;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321836.1|protein_coding|6/18|c.531+111C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321833.1|protein_coding|5/17|c.408+111C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321834.1|protein_coding|5/17|c.408+111C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321835.1|protein_coding|5/17|c.102+111C>T||||||,T|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_016207.3|protein_coding|5/17|c.519+111C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1032;p3_1000G_AF=0.20607;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=17720;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.3877;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9572928;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:52:136,0,52
chr2	9436424	rs6432003	T	C	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.552;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6432003;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321836.1|protein_coding|8/18|c.772+63T>C||||||,C|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321833.1|protein_coding|7/17|c.649+63T>C||||||,C|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321834.1|protein_coding|7/17|c.649+63T>C||||||,C|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321835.1|protein_coding|7/17|c.343+63T>C||||||,C|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_016207.3|protein_coding|7/17|c.760+63T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2342;p3_1000G_AF=0.467652;p3_1000G_AFR_AF=0.7655;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=17941;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9576553;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:332,0,203
chr2	9440411	rs111411247	G	GT	115.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=5.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=2.35;SOR=2.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs111411247;dbSNPBuildID=132;ANN=GT|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321836.1|protein_coding|8/18|c.773-78dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321833.1|protein_coding|7/17|c.650-78dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321834.1|protein_coding|7/17|c.650-78dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321835.1|protein_coding|7/17|c.344-78dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_016207.3|protein_coding|7/17|c.761-78dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TT|TTT|deletion;p3_1000G_AC=2343;p3_1000G_AF=0.467851;p3_1000G_AFR_AF=0.7655;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=18746;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9580540;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:25,7:32:99:153,0,797
chr2	9475906	rs7591166	A	G	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=1.61;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7591166;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321836.1|protein_coding||c.*2889A>G|||||2796|,G|downstream_gene_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321833.1|protein_coding||c.*2889A>G|||||2796|,G|downstream_gene_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321834.1|protein_coding||c.*2889A>G|||||2796|,G|downstream_gene_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_001321835.1|protein_coding||c.*2889A>G|||||2796|,G|downstream_gene_variant|MODIFIER|CPSF3|CPSF3|transcript|NM_016207.3|protein_coding||c.*2889A>G|||||2796|,G|intron_variant|MODIFIER|IAH1|IAH1|transcript|NM_001039613.2|protein_coding|1/5|c.82-81A>G||||||,G|intron_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320859.1|protein_coding|1/4|c.-206+1259A>G||||||,G|intron_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320860.1|protein_coding|1/4|c.-174+1259A>G||||||,G|intron_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320863.1|protein_coding|1/5|c.-226-81A>G||||||,G|intron_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320858.1|protein_coding|1/5|c.7-81A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1752;p3_1000G_AF=0.34984;p3_1000G_AFR_AF=0.3404;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=19015;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9616035;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:261,0,117
chr2	9490102	rs6705408	C	T	209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.919;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.776;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6705408;dbSNPBuildID=116;ANN=T|3_prime_UTR_variant|MODIFIER|ADAM17|ADAM17|transcript|NM_003183.5|protein_coding|19/19|c.*75G>A|||||75|,T|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001039613.2|protein_coding||c.*1773C>T|||||1478|,T|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320859.1|protein_coding||c.*1773C>T|||||1478|,T|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320860.1|protein_coding||c.*1773C>T|||||1478|,T|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320863.1|protein_coding||c.*1773C>T|||||1478|,T|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320858.1|protein_coding||c.*1773C>T|||||1478|;p3_1000G_AA=T|||;p3_1000G_AC=2307;p3_1000G_AF=0.460663;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=19825;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9630231;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:238,0,211
chr2	9490115	rs3833563;rs397871862	AT	A	263.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.092;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.756;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3833563;dbSNPBuildID=107,138;ANN=A|3_prime_UTR_variant|MODIFIER|ADAM17|ADAM17|transcript|NM_003183.5|protein_coding|19/19|c.*61delA|||||61|,A|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001039613.2|protein_coding||c.*1787delT|||||1492|,A|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320859.1|protein_coding||c.*1787delT|||||1492|,A|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320860.1|protein_coding||c.*1787delT|||||1492|,A|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320863.1|protein_coding||c.*1787delT|||||1492|,A|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320858.1|protein_coding||c.*1787delT|||||1492|;p3_1000G_AA=tT|TTT|TT|insertion;p3_1000G_AC=1959;p3_1000G_AF=0.391174;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19925;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.5755;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9630244;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,10:18:99:301,0,231
chr2	9493008	rs4622692	T	G	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=2.908;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=-0.02;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4622692;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001039613.2|protein_coding||c.*4679T>G|||||4384|,G|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320859.1|protein_coding||c.*4679T>G|||||4384|,G|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320860.1|protein_coding||c.*4679T>G|||||4384|,G|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320863.1|protein_coding||c.*4679T>G|||||4384|,G|downstream_gene_variant|MODIFIER|IAH1|IAH1|transcript|NM_001320858.1|protein_coding||c.*4679T>G|||||4384|,G|intron_variant|MODIFIER|ADAM17|ADAM17|transcript|NM_003183.5|protein_coding|16/18|c.1994-22A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2312;p3_1000G_AF=0.461661;p3_1000G_AFR_AF=0.7103;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19211;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9633137;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3152,1254;ESP6500_AA_AGE=419.6+/-338.7;ESP6500_AA_GTC=1149,854,200;ESP6500_CDS_SIZES=NM_003183.4:2475;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=79;ESP6500_EA_AC=5228,3370;ESP6500_EA_AGE=470.5+/-367.8;ESP6500_EA_GTC=1625,1978,696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003183.4:intron;ESP6500_GL=ADAM17;ESP6500_GRCh38_POSITION=2:9493008;ESP6500_GTC=2774,2832,896;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003183.4:c.1994-22A>C;ESP6500_MAF=39.1952,28.4612,35.5583;ESP6500_TAC=8380,4624	GT:AD:DP:GQ:PL	0/1:24,13:37:99:331,0,556
chr2	9493971	rs883399	G	A	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.489;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=0.327;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs883399;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|ADAM17|ADAM17|transcript|NM_003183.5|protein_coding|15/18|c.1915-146C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1901;p3_1000G_AF=0.379593;p3_1000G_AFR_AF=0.4107;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=21728;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9634100;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,5:17:99:109,0,379
chr2	9494727	rs1048610	A	G	406.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.198;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-1.026;SOR=0.489;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1048610;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ADAM17|ADAM17|transcript|NM_003183.5|protein_coding|15/19|c.1824T>C|p.Ser608Ser|2039/4381|1824/2475|608/824||;p3_1000G_AA=G|||;p3_1000G_AC=2326;p3_1000G_AF=0.464457;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=17764;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.5845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9634856;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3168,1238;ESP6500_AA_AGE=428.5+/-341.9;ESP6500_AA_GTC=1159,850,194;ESP6500_CDS_SIZES=NM_003183.4:2475;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=91;ESP6500_EA_AC=5228,3372;ESP6500_EA_AGE=499.6+/-375.0;ESP6500_EA_GTC=1624,1980,696;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003183.4:coding-synonymous;ESP6500_GL=ADAM17;ESP6500_GRCh38_POSITION=2:9494727;ESP6500_GTC=2783,2830,890;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003183.4:c.1824T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003183.4:p.(S608);ESP6500_MAF=39.2093,28.098,35.4452;ESP6500_TAC=8396,4610	GT:AD:DP:GQ:PL	0/1:10,17:27:99:435,0,222
chr2	9517818	rs2298763	A	T	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=-0.674;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298763;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ADAM17|ADAM17|transcript|NM_003183.5|protein_coding|10/18|c.1191+83T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=552;p3_1000G_AF=0.110224;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=14407;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9657947;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:34:65,0,34
chr2	9843462	rs35818430;~rs35818430	A	AG	186.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35818430;dbSNPBuildID=126;ANN=AG|5_prime_UTR_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|1/15|c.-79dupG|||||78|INFO_REALIGN_3_PRIME,AG|5_prime_UTR_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|1/15|c.-820dupG|||||39300|INFO_REALIGN_3_PRIME,AG|5_prime_UTR_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|1/14|c.-690dupG|||||39300|INFO_REALIGN_3_PRIME;p3_1000G_AC=4998;p3_1000G_AF=0.998003;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=14401;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9983591;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3578,10;ESP6500_AA_GTC=1788,2,4;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=6;ESP6500_EA_AC=7182,18;ESP6500_EA_GTC=3587,8,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:utr-5;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9843462;ESP6500_GTC=5375,10,9;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.-80_-79insG;ESP6500_MAF=0.25,0.2787,0.2595;ESP6500_TAC=10760,28	GT:AD:DP:GQ:PL	1/1:0,6:6:18:224,18,0
chr2	9843587	rs385513	A	C	198.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs385513;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|1/14|c.18+28A>C||||||,C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|1/14|c.-724+28A>C||||||,C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|1/13|c.-594+28A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4642;p3_1000G_AF=0.926917;p3_1000G_AFR_AF=0.7458;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=9529;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9983716;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3126,828;ESP6500_AA_GTC=1250,626,101;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=5;ESP6500_EA_AC=7857,43;ESP6500_EA_GTC=3909,39,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:intron;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9843587;ESP6500_GTC=5159,665,103;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.18+28A>C;ESP6500_MAF=0.5443,20.9408,7.3477;ESP6500_TAC=10983,871	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0
chr2	9846033	rs287987	C	T	586.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.652;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=2.95;SOR=0.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs287987;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|2/14|c.117+715C>T||||||,T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|2/14|c.-624-24C>T||||||,T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|2/13|c.-495+715C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=706;p3_1000G_AF=0.140974;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=23593;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9986162;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,24:41:99:615,0,461
chr2	9851427	rs287991	G	A	158.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.47;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs287991;dbSNPBuildID=79;ANN=A|sequence_feature|LOW|TAF1B|TAF1B|miscellaneous-region:B-linker|NM_005680.2|protein_coding|3/14|c.206-114G>A||||||,A|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|3/14|c.206-114G>A||||||,A|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|4/14|c.-406-114G>A||||||,A|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|3/13|c.-406-114G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18146;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9991556;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:187,18,0
chr2	9882887	rs447465	T	C	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.243;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs447465;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|8/14|c.807+82T>C||||||,C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|8/14|c.42+82T>C||||||,C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|7/13|c.42+82T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=820;p3_1000G_AF=0.163738;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=17455;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10023016;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:181,0,185
chr2	9904817	rs450194	G	T	17.84	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=-1.221;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs450194;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|8/14|c.808-42G>T||||||,T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|8/14|c.43-42G>T||||||,T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|7/13|c.43-42G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1105;p3_1000G_AF=0.220647;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=18345;p3_1000G_EAS_AF=0.1448;p3_1000G_EUR_AF=0.3837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10044946;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=347,4029;ESP6500_AA_GTC=26,295,1867;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=25;ESP6500_EA_AC=2842,5726;ESP6500_EA_GTC=560,1722,2002;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:intron;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9904817;ESP6500_GTC=586,2017,3869;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.808-42G>T;ESP6500_MAF=33.1699,7.9296,24.6369;ESP6500_TAC=3189,9755	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,2:10:46:0|1:9904812_G_T:46,0,363
chr2	9904822	rs2052948	A	G	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.751;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.7;ReadPosRankSum=0.277;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2052948;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|8/14|c.808-37A>G||||||,G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|8/14|c.43-37A>G||||||,G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|7/13|c.43-37A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1804;p3_1000G_AF=0.360224;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=18321;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.2773;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10044951;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1682,2702;ESP6500_AA_GTC=337,1008,847;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=28;ESP6500_EA_AC=2252,6336;ESP6500_EA_GTC=298,1656,2340;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:intron;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9904822;ESP6500_GTC=635,2664,3187;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.808-37A>G;ESP6500_MAF=26.2226,38.3668,30.3269;ESP6500_TAC=3934,9038	GT:AD:DP:GQ:PL	0/1:2,12:14:48:346,0,48
chr2	9904885	rs400917	C	T	1481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs400917;dbSNPBuildID=80;ANN=T|synonymous_variant|LOW|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|9/15|c.834C>T|p.Tyr278Tyr|934/2299|834/1767|278/588||,T|synonymous_variant|LOW|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|9/15|c.69C>T|p.Tyr23Tyr|910/2275|69/1002|23/333||,T|synonymous_variant|LOW|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|8/14|c.69C>T|p.Tyr23Tyr|780/2145|69/1002|23/333||;p3_1000G_AA=T|||;p3_1000G_AC=4105;p3_1000G_AF=0.819688;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=17940;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.9324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10045014;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3056,1350;ESP6500_AA_AGE=446.5+/-348.0;ESP6500_AA_GTC=1060,936,207;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=3.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=68;ESP6500_EA_AC=8022,578;ESP6500_EA_AGE=155.1+/-209.2;ESP6500_EA_GTC=3748,526,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:coding-synonymous;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9904885;ESP6500_GTC=4808,1462,233;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.834C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005680.2:p.(Y278);ESP6500_MAF=6.7209,30.64,14.8239;ESP6500_TAC=11078,1928	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,34:34:99:1|1:9904885_C_T:1510,102,0
chr2	9904895	rs396190	G	A	1561.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.55;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs396190;dbSNPBuildID=80;ANN=A|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|9/15|c.844G>A|p.Val282Ile|944/2299|844/1767|282/588||,A|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|9/15|c.79G>A|p.Val27Ile|920/2275|79/1002|27/333||,A|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|8/14|c.79G>A|p.Val27Ile|790/2145|79/1002|27/333||;p3_1000G_AA=A|||;p3_1000G_AC=4668;p3_1000G_AF=0.932109;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17928;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10045024;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3524,882;ESP6500_AA_AGE=340.7+/-306.4;ESP6500_AA_GTC=1417,690,96;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=3.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=74;ESP6500_EA_AC=8582,18;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=4282,18,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005680.2:missense;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9904895;ESP6500_GS=29;ESP6500_GTC=5699,708,96;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.844G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005680.2:p.(V282I);ESP6500_MAF=0.2093,20.0182,6.9199;ESP6500_PH=benign:0.0;ESP6500_TAC=12106,900	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,36:36:99:1|1:9904885_C_T:1590,108,0
chr2	9905018	rs448327	A	G	1540.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.803;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=28.01;ReadPosRankSum=-0.451;SOR=0.368;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs448327;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|9/14|c.955+12A>G||||||,G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|9/14|c.190+12A>G||||||,G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|8/13|c.190+12A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4715;p3_1000G_AF=0.941494;p3_1000G_AFR_AF=0.7844;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16843;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10045147;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3634,772;ESP6500_AA_AGE=312.2+/-292.5;ESP6500_AA_GTC=1513,608,82;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=98;ESP6500_EA_AC=8582,18;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=4282,18,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:intron;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9905018;ESP6500_GTC=5795,626,82;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.955+12A>G;ESP6500_MAF=0.2093,17.5216,6.0741;ESP6500_TAC=12216,790	GT:AD:DP:GQ:PL	1/1:1,54:55:99:1569,128,0
chr2	9910818	rs1054561	T	C	1184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.68;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.308;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1054561;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|10/15|c.1038T>C|p.Ala346Ala|1138/2299|1038/1767|346/588||,C|synonymous_variant|LOW|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|10/15|c.273T>C|p.Ala91Ala|1114/2275|273/1002|91/333||,C|synonymous_variant|LOW|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|9/14|c.273T>C|p.Ala91Ala|984/2145|273/1002|91/333||;p3_1000G_AA=T|||;p3_1000G_AC=2160;p3_1000G_AF=0.43131;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=20033;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10050947;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=928,3478;ESP6500_AA_AGE=354.4+/-312.6;ESP6500_AA_GTC=109,710,1384;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=-1.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=157;ESP6500_EA_AC=5745,2855;ESP6500_EA_AGE=674.1+/-403.1;ESP6500_EA_GTC=1914,1917,469;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:coding-synonymous;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9910818;ESP6500_GTC=2023,2627,1853;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.1038T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005680.2:p.(A346);ESP6500_MAF=33.1977,21.0622,48.6929;ESP6500_TAC=6673,6333	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1213,0,1180
chr2	9910831	rs1054565	A	G	1256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.04;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=1.616;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.565;SOR=0.678;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1054565;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|10/15|c.1051A>G|p.Thr351Ala|1151/2299|1051/1767|351/588||,G|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|10/15|c.286A>G|p.Thr96Ala|1127/2275|286/1002|96/333||,G|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|9/14|c.286A>G|p.Thr96Ala|997/2145|286/1002|96/333||;p3_1000G_AA=A|||;p3_1000G_AC=2160;p3_1000G_AF=0.43131;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=19827;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10050960;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=928,3478;ESP6500_AA_AGE=353.8+/-312.3;ESP6500_AA_GTC=109,710,1384;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=2.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=163;ESP6500_EA_AC=5744,2856;ESP6500_EA_AGE=673.9+/-403.1;ESP6500_EA_GTC=1914,1916,470;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005680.2:missense;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9910831;ESP6500_GS=58;ESP6500_GTC=2023,2626,1854;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.1051A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005680.2:p.(T351A);ESP6500_MAF=33.2093,21.0622,48.7006;ESP6500_PH=benign:0.024;ESP6500_TAC=6672,6334	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1285,0,1158
chr2	9910924	rs10495576	G	C	707.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=6.439;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=1.72;SOR=0.19;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10495576;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|10/14|c.1133+11G>C||||||,C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|10/14|c.368+11G>C||||||,C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|9/13|c.368+11G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2161;p3_1000G_AF=0.43151;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=19558;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10051053;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=927,3479;ESP6500_AA_AGE=352.1+/-311.5;ESP6500_AA_GTC=109,709,1385;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=124;ESP6500_EA_AC=5777,2823;ESP6500_EA_AGE=672.4+/-402.9;ESP6500_EA_GTC=1944,1889,467;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:intron;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9910924;ESP6500_GTC=2053,2598,1852;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.1133+11G>C;ESP6500_MAF=32.8256,21.0395,48.4546;ESP6500_TAC=6704,6302	GT:AD:DP:GQ:PL	0/1:31,25:56:99:736,0,907
chr2	9911663	rs2241664	A	G	86.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.7;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241664;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|11/14|c.1180+106A>G||||||,G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|11/14|c.415+106A>G||||||,G|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|10/13|c.415+106A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1105;p3_1000G_AF=0.220647;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=19388;p3_1000G_EAS_AF=0.1448;p3_1000G_EUR_AF=0.3837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10051792;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:25:115,0,25
chr2	9913283	rs12467598	C	T	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.077;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.443;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12467598;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|12/14|c.1271+34C>T||||||,T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|12/14|c.506+34C>T||||||,T|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|11/13|c.506+34C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2160;p3_1000G_AF=0.43131;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=17294;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.6551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10053412;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=924,3482;ESP6500_AA_AGE=730.1+/-410.1;ESP6500_AA_GTC=109,706,1388;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=77;ESP6500_EA_AC=5744,2856;ESP6500_EA_AGE=435.9+/-358.1;ESP6500_EA_GTC=1914,1916,470;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005680.2:intron;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9913283;ESP6500_GTC=2023,2622,1858;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.1271+34C>T;ESP6500_MAF=33.2093,20.9714,48.7314;ESP6500_TAC=6668,6338	GT:AD:DP:GQ:PL	0/1:19,15:34:99:383,0,477
chr2	9918968	rs2303921	A	C	338.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=1.42;SOR=0.191;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303921;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|12/14|c.1272-73A>C||||||,C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|12/14|c.507-73A>C||||||,C|intron_variant|MODIFIER|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|11/13|c.507-73A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2515;p3_1000G_AF=0.502196;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=19370;p3_1000G_EAS_AF=0.5476;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10059097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:367,0,219
chr2	9919641	rs1820965	G	T	231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.421;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.685;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1820965;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|14/15|c.1386G>T|p.Glu462Asp|1486/2299|1386/1767|462/588||,T|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|14/15|c.621G>T|p.Glu207Asp|1462/2275|621/1002|207/333||,T|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|13/14|c.621G>T|p.Glu207Asp|1332/2145|621/1002|207/333||;p3_1000G_AA=G|||;p3_1000G_AC=2211;p3_1000G_AF=0.441494;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=19183;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.667;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10059770;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=926,3480;ESP6500_AA_AGE=351.8+/-311.4;ESP6500_AA_GTC=111,704,1388;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=75;ESP6500_EA_AC=5776,2824;ESP6500_EA_AGE=675.4+/-403.2;ESP6500_EA_GTC=1933,1910,457;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005680.2:missense;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9919641;ESP6500_GS=45;ESP6500_GTC=2044,2614,1845;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.1386G>T;ESP6500_HGVS_PROTEIN_VAR=NM_005680.2:p.(E462D);ESP6500_MAF=32.8372,21.0168,48.4699;ESP6500_PH=benign:0.0;ESP6500_TAC=6702,6304	GT:AD:DP:GQ:PL	0/1:10,9:19:99:260,0,285
chr2	9919715	rs16867245	C	T	198.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.627;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-0.306;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16867245;dbSNPBuildID=123;ANN=T|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_005680.2|protein_coding|14/15|c.1460C>T|p.Thr487Met|1560/2299|1460/1767|487/588||,T|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_001318976.1|protein_coding|14/15|c.695C>T|p.Thr232Met|1536/2275|695/1002|232/333||,T|missense_variant|MODERATE|TAF1B|TAF1B|transcript|NM_001318977.1|protein_coding|13/14|c.695C>T|p.Thr232Met|1406/2145|695/1002|232/333||;p3_1000G_AA=C|||;p3_1000G_AC=689;p3_1000G_AF=0.13758;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=13986;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.1262;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10059844;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=122,4284;ESP6500_AA_AGE=91.1+/-129.8;ESP6500_AA_GTC=5,112,2086;ESP6500_CDS_SIZES=NM_005680.2:1767;ESP6500_CG=5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=81;ESP6500_EA_AC=972,7628;ESP6500_EA_AGE=211.3+/-251.9;ESP6500_EA_GTC=59,854,3387;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005680.2:missense;ESP6500_GL=TAF1B;ESP6500_GRCh38_POSITION=2:9919715;ESP6500_GS=81;ESP6500_GTC=64,966,5473;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005680.2:c.1460C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005680.2:p.(T487M);ESP6500_MAF=11.3023,2.769,8.4115;ESP6500_PH=probably-damaging:0.986;ESP6500_TAC=1094,11912	GT:AD:DP:GQ:PL	0/1:16,11:27:99:227,0,388
chr2	9954863	rs2303918	A	G	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.279;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-1.469;SOR=0.333;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303918;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GRHL1|GRHL1|transcript|NM_198182.2|protein_coding|1/15|c.21-52A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2992;p3_1000G_AF=0.597444;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=23402;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10094992;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,14:21:99:388,0,170
chr2	9986202	rs2303920	G	A	337.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.272;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.744;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.112;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303920;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|GRHL1|GRHL1|transcript|NM_198182.2|protein_coding|9/16|c.1189G>A|p.Val397Ile|1360/3605|1189/1857|397/618||;p3_1000G_AA=A|||;p3_1000G_AC=1316;p3_1000G_AF=0.26278;p3_1000G_AFR_AF=0.3064;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=12735;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.2316;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10126330;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1374,3032;ESP6500_AA_AGE=689.5+/-405.1;ESP6500_AA_GTC=222,930,1051;ESP6500_CDS_SIZES=NM_198182.2:1857;ESP6500_CG=5.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=207;ESP6500_EA_AC=1832,6768;ESP6500_EA_AGE=731.2+/-406.8;ESP6500_EA_GTC=199,1434,2667;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198182.2:missense;ESP6500_GL=GRHL1;ESP6500_GRCh38_POSITION=2:9986202;ESP6500_GS=29;ESP6500_GTC=421,2364,3718;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198182.2:c.1189G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198182.2:p.(V397I);ESP6500_MAF=21.3023,31.1847,24.6502;ESP6500_PH=benign:0.0;ESP6500_TAC=3206,9800	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,14:23:99:1|0:9986180_G_A:366,0,243
chr2	9986288	rs16867274	A	G	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.812;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.967;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16867274;dbSNPBuildID=123;ANN=G|splice_region_variant&intron_variant|LOW|GRHL1|GRHL1|transcript|NM_198182.2|protein_coding|9/15|c.1269+6A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2516;p3_1000G_AF=0.502396;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=14641;p3_1000G_EAS_AF=0.4008;p3_1000G_EUR_AF=0.4384;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10126416;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2896,1510;ESP6500_AA_AGE=478.8+/-358.3;ESP6500_AA_GTC=958,980,265;ESP6500_CDS_SIZES=NM_198182.2:1857;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=136;ESP6500_EA_AC=3705,4895;ESP6500_EA_AGE=619.2+/-396.9;ESP6500_EA_GTC=775,2155,1370;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198182.2:intron;ESP6500_GL=GRHL1;ESP6500_GRCh38_POSITION=2:9986288;ESP6500_GTC=1733,3135,1635;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198182.2:c.1269+6A>G;ESP6500_MAF=43.0814,34.2714,49.2465;ESP6500_TAC=6601,6405	GT:AD:DP:GQ:PL	0/1:3,6:9:84:155,0,84
chr2	9990845	rs12475243	T	G	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.431;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12475243;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|GRHL1|GRHL1|transcript|NM_198182.2|protein_coding|10/15|c.1321+98T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1318;p3_1000G_AF=0.263179;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=16769;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.2316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10130973;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:54:113,0,54
chr2	9993156	rs12618788	C	T	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.569;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=0.299;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12618788;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|GRHL1|GRHL1|transcript|NM_198182.2|protein_coding|11/15|c.1462-51C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1014;p3_1000G_AF=0.202476;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=20912;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.1501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10133284;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=867,3539;ESP6500_AA_AGE=743.3+/-411.4;ESP6500_AA_GTC=85,697,1421;ESP6500_CDS_SIZES=NM_198182.2:1857;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=101;ESP6500_EA_AC=1148,7452;ESP6500_EA_AGE=765.5+/-407.6;ESP6500_EA_GTC=89,970,3241;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198182.2:intron;ESP6500_GL=GRHL1;ESP6500_GRCh38_POSITION=2:9993156;ESP6500_GTC=174,1667,4662;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198182.2:c.1462-51C>T;ESP6500_MAF=13.3488,19.6777,15.4928;ESP6500_TAC=2015,10991	GT:AD:DP:GQ:PL	0/1:14,5:19:79:79,0,420
chr2	10000523	rs2163338	A	G	897.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-1.31;SOR=0.731;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2163338;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|GRHL1|GRHL1|transcript|NM_198182.2|protein_coding|15/15|c.1743-70A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1966;p3_1000G_AF=0.392572;p3_1000G_AFR_AF=0.4327;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=18798;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.329;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10140651;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:51,38:89:99:926,0,1277
chr2	10048522	rs11687357	A	T	2536.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11687357;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|KLF11|KLF11|transcript|NM_003597.4|protein_coding|3/4|c.1185A>T|p.Val395Val|1347/4030|1185/1539|395/512||,T|synonymous_variant|LOW|KLF11|KLF11|transcript|NM_001177716.1|protein_coding|3/4|c.1134A>T|p.Val378Val|1202/3885|1134/1488|378/495||,T|synonymous_variant|LOW|KLF11|KLF11|transcript|NM_001177718.1|protein_coding|3/4|c.1134A>T|p.Val378Val|1350/4033|1134/1488|378/495||;p3_1000G_AA=T|||;p3_1000G_AC=4183;p3_1000G_AF=0.835264;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=21002;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.8201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10188649;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3580,826;ESP6500_AA_AGE=325.6+/-299.2;ESP6500_AA_GTC=1455,670,78;ESP6500_CDS_SIZES=NM_003597.4:1539,NM_001177718.1:1488,NM_001177716.1:1488;ESP6500_CG=-4.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=91;ESP6500_EA_AC=6934,1666;ESP6500_EA_AGE=306.9+/-308.1;ESP6500_EA_GTC=2797,1340,163;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003597.4:coding-synonymous,NM_001177718.1:coding-synonymous,NM_001177716.1:coding-synonymous;ESP6500_GL=KLF11;ESP6500_GRCh38_POSITION=2:10048522;ESP6500_GTC=4252,2010,241;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_003597.4:c.1185A>T,NM_001177718.1:c.1134A>T,NM_001177716.1:c.1134A>T;ESP6500_HGVS_PROTEIN_VAR=NM_003597.4:p.(V395),NM_001177718.1:p.(V378),NM_001177716.1:p.(V378);ESP6500_MAF=19.3721,18.7472,19.1604;ESP6500_TAC=10514,2492	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2565,234,0
chr2	10123091	rs1483279807	A	T	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=8.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=0.491;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|RRM2|RRM2|transcript|NM_001165931.1|protein_coding|2/9|c.354+34A>T||||||,T|intron_variant|MODIFIER|RRM2|RRM2|transcript|NM_001034.3|protein_coding|2/9|c.174+34A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,10:18:99:0|1:10123084_GC_G:341,0,214
chr2	10141776	rs398090136;rs530744667	G	GC	318.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5829249;dbSNPBuildID=142,138;ANN=GC|intron_variant|MODIFIER|C2orf48|C2orf48|transcript|NM_182626.3|protein_coding|1/3|c.-29-76dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|CC|CCC|unsure;p3_1000G_AC=5001;p3_1000G_AF=0.998602;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19017;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10281903;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:356,30,0
chr2	10440841	rs1049500	G	A	599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.184;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-1.353;SOR=0.837;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1049500;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|ODC1|ODC1|transcript|NM_001287189.1|protein_coding|12/12|c.1269C>T|p.Pro423Pro|1722/2192|1269/1386|423/461||,A|synonymous_variant|LOW|ODC1|ODC1|transcript|NM_001287190.1|protein_coding|12/12|c.1269C>T|p.Pro423Pro|1568/2038|1269/1386|423/461||,A|synonymous_variant|LOW|ODC1|ODC1|transcript|NM_001287188.1|protein_coding|12/12|c.882C>T|p.Pro294Pro|1730/2200|882/999|294/332||,A|synonymous_variant|LOW|ODC1|ODC1|transcript|NM_002539.2|protein_coding|12/12|c.1269C>T|p.Pro423Pro|1830/2300|1269/1386|423/461||;p3_1000G_AA=G|||;p3_1000G_AC=1363;p3_1000G_AF=0.272165;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=17561;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.0547;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10580967;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1058,3348;ESP6500_AA_AGE=388.9+/-327.1;ESP6500_AA_GTC=130,798,1275;ESP6500_CDS_SIZES=NM_002539.1:1386;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=92;ESP6500_EA_AC=326,8274;ESP6500_EA_AGE=113.5+/-173.5;ESP6500_EA_GTC=6,314,3980;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002539.1:coding-synonymous;ESP6500_GL=ODC1;ESP6500_GRCh38_POSITION=2:10440841;ESP6500_GTC=136,1112,5255;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002539.1:c.1269C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002539.1:p.(P423);ESP6500_MAF=3.7907,24.0127,10.6412;ESP6500_TAC=1384,11622	GT:AD:DP:GQ:PL	0/1:18,23:41:99:628,0,444
chr2	10443896	rs3752661	T	C	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752661;dbSNPBuildID=107;ANN=C|sequence_feature|LOW|ODC1|ODC1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001287190.1|protein_coding|5/11|c.450-60A>G||||||,C|downstream_gene_variant|MODIFIER|SNORA80B|SNORA80B|transcript|NR_028374.1|pseudogene||n.*2818A>G|||||2818|,C|intron_variant|MODIFIER|ODC1|ODC1|transcript|NM_001287189.1|protein_coding|5/11|c.450-60A>G||||||,C|intron_variant|MODIFIER|ODC1|ODC1|transcript|NM_001287190.1|protein_coding|5/11|c.450-60A>G||||||,C|intron_variant|MODIFIER|ODC1|ODC1|transcript|NM_001287188.1|protein_coding|5/11|c.63-60A>G||||||,C|intron_variant|MODIFIER|ODC1|ODC1|transcript|NM_002539.2|protein_coding|5/11|c.450-60A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1053;p3_1000G_AF=0.210264;p3_1000G_AFR_AF=0.2216;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=18887;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.0547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10584022;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:150,0,121
chr2	10572152	rs3732114	C	T	610.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.251;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.052;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.558;SOR=0.954;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732114;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|NOL10|NOL10|transcript|NM_024894.3|protein_coding|21/21|c.1986G>A|p.Leu662Leu|2112/3498|1986/2067|662/688||,T|synonymous_variant|LOW|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|20/20|c.1908G>A|p.Leu636Leu|2034/3420|1908/1989|636/662||,T|synonymous_variant|LOW|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|20/20|c.1836G>A|p.Leu612Leu|1962/3348|1836/1917|612/638||,T|non_coding_transcript_exon_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|20/20|n.2066G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1535;p3_1000G_AF=0.30651;p3_1000G_AFR_AF=0.5;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=19280;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10712278;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2024,2382;ESP6500_AA_AGE=563.2+/-381.1;ESP6500_AA_GTC=482,1060,661;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=218;ESP6500_EA_AC=955,7645;ESP6500_EA_AGE=208.2+/-249.7;ESP6500_EA_GTC=55,845,3400;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:coding-synonymous,NM_001261394.1:coding-synonymous,NM_001261392.1:coding-synonymous;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10572152;ESP6500_GTC=537,1905,4061;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.1986G>A,NM_001261394.1:c.1836G>A,NM_001261392.1:c.1908G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024894.3:p.(L662),NM_001261394.1:p.(L612),NM_001261392.1:p.(L636);ESP6500_MAF=11.1047,45.9374,22.9048;ESP6500_TAC=2979,10027	GT:AD:DP:GQ:PL	0/1:32,24:56:99:639,0,948
chr2	10577680	rs2287059	C	T	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.531;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.956;SOR=0.725;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287059;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|NOL10|NOL10|transcript|NM_024894.3|protein_coding|20/21|c.1903G>A|p.Asp635Asn|2029/3498|1903/2067|635/688||,T|missense_variant|MODERATE|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|19/20|c.1825G>A|p.Asp609Asn|1951/3420|1825/1989|609/662||,T|missense_variant|MODERATE|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|19/20|c.1753G>A|p.Asp585Asn|1879/3348|1753/1917|585/638||,T|non_coding_transcript_exon_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|19/20|n.1983G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=668;p3_1000G_AF=0.133387;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=20026;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.2744;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10717806;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=261,4145;ESP6500_AA_AGE=148.4+/-182.8;ESP6500_AA_GTC=13,235,1955;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=6.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=139;ESP6500_EA_AC=2613,5987;ESP6500_EA_AGE=418.0+/-352.6;ESP6500_EA_GTC=397,1819,2084;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024894.3:missense,NM_001261394.1:missense,NM_001261392.1:missense;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10577680;ESP6500_GS=23,23,23;ESP6500_GTC=410,2054,4039;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.1903G>A,NM_001261394.1:c.1753G>A,NM_001261392.1:c.1825G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024894.3:p.(D635N),NM_001261394.1:p.(D585N),NM_001261392.1:p.(D609N);ESP6500_MAF=30.3837,5.9237,22.0975;ESP6500_PH=possibly-damaging:0.5,possibly-damaging:0.5,possibly-damaging:0.5;ESP6500_TAC=2874,10132	GT:AD:DP:GQ:PL	0/1:22,20:42:99:442,0,578
chr2	10589771	rs759403	C	T	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.566;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs759403;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|17/20|c.1423-20G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|16/19|c.1345-20G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|16/19|c.1273-20G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|16/19|n.1503-20G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2957;p3_1000G_AF=0.590455;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=16802;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.5169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10729897;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3297,1085;ESP6500_AA_GTC=1274,749,168;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=15;ESP6500_EA_AC=4322,4224;ESP6500_EA_GTC=1124,2074,1075;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:intron,NM_001261394.1:intron,NM_001261392.1:intron;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10589771;ESP6500_GTC=2398,2823,1243;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.1423-20G>A,NM_001261394.1:c.1273-20G>A,NM_001261392.1:c.1345-20G>A;ESP6500_MAF=49.4266,24.7604,41.0659;ESP6500_TAC=7619,5309	GT:AD:DP:GQ:PL	0/1:3,4:7:61:102,0,61
chr2	10600715	rs4668692	T	C	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4668692;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|17/20|c.1422+138A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|16/19|c.1344+138A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|16/19|c.1272+138A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|16/19|n.1502+138A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1537;p3_1000G_AF=0.306909;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=15811;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10740841;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:62:72,0,62
chr2	10603027	rs2287061	C	T	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.774;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.696;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.494;SOR=0.233;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287061;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|15/20|c.1233+51G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|14/19|c.1155+51G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|14/19|c.1083+51G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|14/19|n.1313+51G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2953;p3_1000G_AF=0.589657;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=17244;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10743153;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2006,648;ESP6500_AA_GTC=757,492,78;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=99;ESP6500_EA_AC=2324,2294;ESP6500_EA_GTC=588,1148,573;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:intron,NM_001261394.1:intron,NM_001261392.1:intron;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10603027;ESP6500_GTC=1345,1640,651;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.1233+51G>A,NM_001261394.1:c.1083+51G>A,NM_001261392.1:c.1155+51G>A;ESP6500_MAF=49.6752,24.416,40.4565;ESP6500_TAC=4330,2942	GT:AD:DP:GQ:PL	0/1:15,14:29:99:357,0,437
chr2	10603065	rs2287062	G	A	381.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.51;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.906;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287062;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|15/20|c.1233+13C>T||||||,A|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|14/19|c.1155+13C>T||||||,A|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|14/19|c.1083+13C>T||||||,A|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|14/19|n.1313+13C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2953;p3_1000G_AF=0.589657;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=16379;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10743191;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3309,1097;ESP6500_AA_AGE=681.6+/-404.0;ESP6500_AA_GTC=1252,805,146;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=75;ESP6500_EA_AC=4356,4242;ESP6500_EA_AGE=549.4+/-385.5;ESP6500_EA_GTC=1102,2152,1045;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:intron,NM_001261394.1:intron,NM_001261392.1:intron;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10603065;ESP6500_GTC=2354,2957,1191;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.1233+13C>T,NM_001261394.1:c.1083+13C>T,NM_001261392.1:c.1155+13C>T;ESP6500_MAF=49.3371,24.8979,41.0566;ESP6500_TAC=7665,5339	GT:AD:DP:GQ:PL	0/1:20,18:38:99:410,0,452
chr2	10603193	rs2287063	T	C	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.24;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.3;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287063;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|14/20|c.1154-36A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|13/19|c.1076-36A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|13/19|c.1004-36A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|13/19|n.1234-36A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1538;p3_1000G_AF=0.307109;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17276;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10743319;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2020,2386;ESP6500_AA_GTC=483,1054,666;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=31;ESP6500_EA_AC=958,7638;ESP6500_EA_GTC=55,848,3395;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:intron,NM_001261394.1:intron,NM_001261392.1:intron;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10603193;ESP6500_GTC=538,1902,4061;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.1154-36A>G,NM_001261394.1:c.1004-36A>G,NM_001261392.1:c.1076-36A>G;ESP6500_MAF=11.1447,45.8466,22.9042;ESP6500_TAC=2978,10024	GT:AD:DP:GQ:PL	0/1:15,14:29:99:382,0,359
chr2	10607081	rs6759714	A	G	11.12	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=2;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.56;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6759714;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|14/20|c.1153+104T>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|13/19|c.1075+104T>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|13/19|c.1003+104T>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|13/19|n.1233+104T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2953;p3_1000G_AF=0.589657;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=16716;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10747207;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,1:2:39:0|1:10607081_A_G:39,0,153
chr2	10607103	rs6744848	C	T	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.35;ReadPosRankSum=-0.842;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6744848;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|14/20|c.1153+82G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|13/19|c.1075+82G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|13/19|c.1003+82G>A||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|13/19|n.1233+82G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=773;p3_1000G_AF=0.154353;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=16286;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10747229;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,4:5:99:0|1:10607081_A_G:165,0,144
chr2	10607120	rs6744854	C	G	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.79;ReadPosRankSum=-0.967;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6744854;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|14/20|c.1153+65G>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|13/19|c.1075+65G>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|13/19|c.1003+65G>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|13/19|n.1233+65G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2953;p3_1000G_AF=0.589657;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=15977;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10747246;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,5:6:99:0|1:10607081_A_G:207,0,141
chr2	10607145	rs6759740	A	G	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.21;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.79;ReadPosRankSum=0;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6759740;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|14/20|c.1153+40T>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|13/19|c.1075+40T>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|13/19|c.1003+40T>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|13/19|n.1233+40T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2953;p3_1000G_AF=0.589657;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=15816;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10747271;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3298,1054;ESP6500_AA_GTC=1270,758,148;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=19;ESP6500_EA_AC=4383,4131;ESP6500_EA_GTC=1170,2043,1044;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:intron,NM_001261394.1:intron,NM_001261392.1:intron;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10607145;ESP6500_GTC=2440,2801,1192;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.1153+40T>C,NM_001261394.1:c.1003+40T>C,NM_001261392.1:c.1075+40T>C;ESP6500_MAF=48.5201,24.2188,40.3;ESP6500_TAC=7681,5185	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,5:6:99:0|1:10607081_A_G:207,0,141
chr2	10622176	rs70953325	TA	T	1196.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.022;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs70953325;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|13/20|c.1027-14866delT||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|12/19|c.949-14866delT||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|12/19|c.877-14866delT||||||,T|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|12/19|n.1107-14866delT||||||;p3_1000G_AA=A|AA|A|insertion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18573;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10762302;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1234,99,0
chr2	10644365	rs3732111	A	G	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.22;ReadPosRankSum=0;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732111;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|NOL10|NOL10|transcript|NM_024894.3|protein_coding|13/21|c.981T>C|p.Leu327Leu|1107/3498|981/2067|327/688||,G|synonymous_variant|LOW|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|12/20|c.903T>C|p.Leu301Leu|1029/3420|903/1989|301/662||,G|synonymous_variant|LOW|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|12/20|c.831T>C|p.Leu277Leu|957/3348|831/1917|277/638||,G|non_coding_transcript_exon_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|12/20|n.1061T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1245;p3_1000G_AF=0.248602;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=16564;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.1193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10784491;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1222,3098;ESP6500_AA_GTC=178,866,1116;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=-1.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=41;ESP6500_EA_AC=843,7517;ESP6500_EA_GTC=47,749,3384;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:coding-synonymous,NM_001261394.1:coding-synonymous,NM_001261392.1:coding-synonymous;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10644365;ESP6500_GTC=225,1615,4500;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.981T>C,NM_001261394.1:c.831T>C,NM_001261392.1:c.903T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024894.3:p.(L327),NM_001261394.1:p.(L277),NM_001261392.1:p.(L301);ESP6500_MAF=10.0837,28.287,16.2855;ESP6500_TAC=2065,10615	GT:AD:DP:GQ:PL	0/1:12,5:17:99:117,0,302
chr2	10644402	rs3821196	T	C	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.749;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.51;ReadPosRankSum=0.044;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821196;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|12/20|c.974-30A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|11/19|c.896-30A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|11/19|c.824-30A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|11/19|n.1054-30A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1361;p3_1000G_AF=0.271765;p3_1000G_AFR_AF=0.3729;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=16381;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10784528;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1342,2880;ESP6500_AA_GTC=215,912,984;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=40;ESP6500_EA_AC=794,7370;ESP6500_EA_GTC=43,708,3331;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:intron,NM_001261394.1:intron,NM_001261392.1:intron;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10644402;ESP6500_GTC=258,1620,4315;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.974-30A>G,NM_001261394.1:c.824-30A>G,NM_001261392.1:c.896-30A>G;ESP6500_MAF=9.7256,31.7859,17.2453;ESP6500_TAC=2136,10250	GT:AD:DP:GQ:PL	0/1:14,7:21:99:123,0,275
chr2	10668650	rs55925118;~rs148588415	C	CAA	547.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=0.836;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs55925118;dbSNPBuildID=129;ANN=CAA|splice_region_variant&intron_variant|LOW|NOL10|NOL10|transcript|NM_024894.3|protein_coding|7/20|c.530+7_530+8insTT||||||,CAA|splice_region_variant&intron_variant|LOW|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|6/19|c.452+7_452+8insTT||||||,CAA|splice_region_variant&intron_variant|LOW|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|7/19|c.530+7_530+8insTT||||||,CAA|splice_region_variant&intron_variant|LOW|NOL10|NOL10|transcript|NR_048552.1|pseudogene|6/19|n.610+7_610+8insTT||||||,CAA|sequence_feature|LOW|NOL10|NOL10|antibody-mapping:heterologous_protein_expression_evidence|NM_024894.3|protein_coding|7/20|c.530+7_530+8insTT||||||,CAA|sequence_feature|LOW|NOL10|NOL10|antibody-mapping:heterologous_protein_expression_evidence|NM_001261392.1|protein_coding|6/19|c.452+7_452+8insTT||||||,CAA|sequence_feature|LOW|NOL10|NOL10|antibody-mapping:heterologous_protein_expression_evidence|NM_001261394.1|protein_coding|7/19|c.530+7_530+8insTT||||||;ESP6500_AA_AC=4105,149;ESP6500_AA_GTC=1984,137,6;ESP6500_CDS_SIZES=NM_024894.3:2067,NM_001261394.1:1917,NM_001261392.1:1989;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=80;ESP6500_EA_AC=8219,23;ESP6500_EA_GTC=4098,23,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024894.3:intron,NM_001261394.1:intron,NM_001261392.1:intron;ESP6500_GL=NOL10;ESP6500_GRCh38_POSITION=2:10668650;ESP6500_GTC=6082,160,6;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024894.3:c.530+7_530+8insTT,NM_001261394.1:c.530+7_530+8insTT,NM_001261392.1:c.452+7_452+8insTT;ESP6500_MAF=0.2791,3.5026,1.3764;ESP6500_TAC=12324,172	GT:AD:DP:GQ:PL	1/1:0,13:13:39:585,39,0
chr2	10671793	rs3821195	C	G	23.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.164;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=-0.431;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821195;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|5/20|c.328-103G>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|4/19|c.250-103G>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|5/19|c.328-103G>C||||||,G|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|4/19|n.408-103G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=628;p3_1000G_AF=0.125399;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=19225;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10811919;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:52:52,0,290
chr2	10673656	rs6748766	T	C	101.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6748766;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_024894.3|protein_coding|4/20|c.290-99A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261392.1|protein_coding|3/19|c.212-99A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NM_001261394.1|protein_coding|4/19|c.290-99A>G||||||,C|intron_variant|MODIFIER|NOL10|NOL10|transcript|NR_048552.1|pseudogene|3/19|n.370-99A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4950;p3_1000G_AF=0.988419;p3_1000G_AFR_AF=0.9576;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16540;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10813782;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:129,9,0
chr2	10757386	rs12474854	A	G	991.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.04;SOR=0.759;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12474854;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_001039362.1|protein_coding|4/13|c.283+3320A>G||||||,G|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_144583.3|protein_coding|4/12|c.283+3320A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1082;p3_1000G_AF=0.216054;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=22550;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10897512;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1020,0,715
chr2	10757412	rs138328704;rs35539220	CTTA	C	1701.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.084;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.27;ReadPosRankSum=-0.585;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs138328704;dbSNPBuildID=134,135;ANN=C|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_001039362.1|protein_coding|4/13|c.283+3351_283+3353delTAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_144583.3|protein_coding|4/12|c.283+3351_283+3353delTAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1082;p3_1000G_AF=0.216054;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=22507;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10897538;p3_1000G_GRCH37_REF=CTTA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1739,0,1560
chr2	10771765	rs1198850	T	C	878.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1198850;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_001039362.1|protein_coding|6/13|c.471-74T>C||||||,C|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_144583.3|protein_coding|6/12|c.471-74T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4400;p3_1000G_AF=0.878594;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=20115;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.8241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10911891;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:907,81,0
chr2	10772027	rs2171773	T	G	525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2171773;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_001039362.1|protein_coding|7/13|c.569+90T>G||||||,G|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_144583.3|protein_coding|7/12|c.569+90T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1819;p3_1000G_AF=0.363219;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=15671;p3_1000G_EAS_AF=0.3304;p3_1000G_EUR_AF=0.4632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10912153;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:554,48,0
chr2	10774964	rs58188788	T	A	1694.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.33;SOR=1.057;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs58188788;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_001039362.1|protein_coding|9/13|c.732-14T>A||||||,A|intron_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_144583.3|protein_coding|9/12|c.732-14T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1346;p3_1000G_AF=0.26877;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=17941;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.2584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10915090;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=423,3983;ESP6500_AA_AGE=205.2+/-227.1;ESP6500_AA_GTC=22,379,1802;ESP6500_CDS_SIZES=NM_144583.3:1146,NM_001039362.1:1284;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=122;ESP6500_EA_AC=2250,6350;ESP6500_EA_AGE=382.4+/-340.4;ESP6500_EA_GTC=286,1678,2336;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144583.3:intron,NM_001039362.1:intron;ESP6500_GL=ATP6V1C2;ESP6500_GRCh38_POSITION=2:10774964;ESP6500_GTC=308,2057,4138;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_144583.3:c.732-14T>A,NM_001039362.1:c.732-14T>A;ESP6500_MAF=26.1628,9.6005,20.5521;ESP6500_TAC=2673,10333	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1723,184,0
chr2	10789980	rs1377942817	AT	A	51.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.21;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0;SOR=0.892;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3841902;dbSNPBuildID=151;ANN=A|downstream_gene_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_001039362.1|protein_coding||c.*6718delT|||||4871|,A|downstream_gene_variant|MODIFIER|ATP6V1C2|ATP6V1C2|transcript|NM_144583.3|protein_coding||c.*6718delT|||||4871|,A|intron_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_001282704.1|protein_coding|9/14|c.856-92delA||||||,A|intron_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_001282707.1|protein_coding|8/13|c.691-92delA||||||,A|intron_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_005742.3|protein_coding|7/12|c.700-92delA||||||,A|intron_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_001282706.1|protein_coding|8/13|c.715-92delA||||||,A|intron_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_001282705.1|protein_coding|8/13|c.844-92delA||||||	GT:AD:DP:GQ:PL	0/1:4,5:9:49:89,0,49
chr2	10812728	rs1160995198	G	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.153;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.627;SOR=0.74;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|5_prime_UTR_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_001282707.1|protein_coding|1/14|c.-219C>T|||||2476|,A|5_prime_UTR_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_005742.3|protein_coding|1/13|c.-32C>T|||||32|,A|intron_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_001282704.1|protein_coding|3/14|c.175+6546C>T||||||,A|intron_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_001282706.1|protein_coding|2/13|c.34+6546C>T||||||,A|intron_variant|MODIFIER|PDIA6|PDIA6|transcript|NM_001282705.1|protein_coding|2/13|c.163+6546C>T||||||	GT:AD:DP:GQ:PL	0/1:11,11:22:99:237,0,249
chr2	10912894	rs3732104	A	G	3481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=112;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.865;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3732104;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|KCNF1|KCNF1|transcript|NM_002236.4|protein_coding|1/1|c.468A>G|p.Ala156Ala|958/2289|468/1485|156/494||;p3_1000G_AA=G|||;p3_1000G_AC=4472;p3_1000G_AF=0.892971;p3_1000G_AFR_AF=0.9788;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=15070;p3_1000G_EAS_AF=0.9653;p3_1000G_EUR_AF=0.837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11053020;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4172,228;ESP6500_AA_GTC=1981,210,9;ESP6500_CDS_SIZES=NM_002236.4:1485;ESP6500_CG=0.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=34;ESP6500_EA_AC=7183,1389;ESP6500_EA_GTC=3019,1145,122;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002236.4:coding-synonymous;ESP6500_GL=KCNF1;ESP6500_GRCh38_POSITION=2:10912894;ESP6500_GTC=5000,1355,131;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002236.4:c.468A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002236.4:p.(A156);ESP6500_MAF=16.2039,5.1818,12.4653;ESP6500_TAC=11355,1617	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3510,333,0
chr2	10913614	rs3732105	C	T	2753.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.29;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3732105;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|KCNF1|KCNF1|transcript|NM_002236.4|protein_coding|1/1|c.1188C>T|p.Ile396Ile|1678/2289|1188/1485|396/494||;p3_1000G_AA=C|||;p3_1000G_AC=2419;p3_1000G_AF=0.483027;p3_1000G_AFR_AF=0.3389;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=22218;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11053740;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1657,2749;ESP6500_AA_AGE=506.1+/-366.3;ESP6500_AA_GTC=300,1057,846;ESP6500_CDS_SIZES=NM_002236.4:1485;ESP6500_CG=-6.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=125;ESP6500_EA_AC=5502,3098;ESP6500_EA_AGE=658.8+/-401.6;ESP6500_EA_GTC=1754,1994,552;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002236.4:coding-synonymous;ESP6500_GL=KCNF1;ESP6500_GRCh38_POSITION=2:10913614;ESP6500_GTC=2054,3051,1398;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002236.4:c.1188C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002236.4:p.(I396);ESP6500_MAF=36.0233,37.6078,44.9562;ESP6500_TAC=7159,5847	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2782,264,0
chr2	11133687	rs6751137	T	C	265.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.58;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6751137;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|FLJ33534|FLJ33534|transcript|NR_040080.1|pseudogene||n.-1511A>G|||||1511|,C|intron_variant|MODIFIER|C2orf50|C2orf50|transcript|NM_182500.2|protein_coding|1/3|c.257+96T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4754;p3_1000G_AF=0.949281;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=18193;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11273813;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:294,30,0
chr2	11144043	rs764808384	C	T	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.692;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.925;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|missense_variant|MODERATE|C2orf50|C2orf50|transcript|NM_182500.2|protein_coding|3/4|c.421C>T|p.Arg141Cys|703/1056|421/489|141/162||	GT:AD:DP:GQ:PL	0/1:19,16:35:99:409,0,469
chr2	11155741	rs7598570	G	C	118.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7598570;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_152391.4|protein_coding|1/6|c.143+52G>C||||||,C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282710.1|protein_coding|1/5|c.143+52G>C||||||,C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282711.1|protein_coding|1/5|c.143+52G>C||||||,C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282712.1|protein_coding|1/3|c.143+52G>C||||||,C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NR_104231.1|pseudogene|1/7|n.318+52G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4080;p3_1000G_AF=0.814696;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=9981;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.6491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11295867;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr2	11160606	rs2271622	C	T	1632.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.149;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.84;SOR=0.757;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271622;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_152391.4|protein_coding|2/6|c.227-19C>T||||||,T|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282710.1|protein_coding|2/5|c.227-19C>T||||||,T|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282711.1|protein_coding|2/5|c.227-19C>T||||||,T|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282712.1|protein_coding|2/3|c.227-19C>T||||||,T|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NR_104231.1|pseudogene|2/7|n.402-19C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1914;p3_1000G_AF=0.382188;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=18248;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11300732;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4939;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=889,3517;ESP6500_AA_AGE=344.1+/-307.9;ESP6500_AA_GTC=103,683,1417;ESP6500_CDS_SIZES=NM_152391.3:609;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=130;ESP6500_EA_AC=4205,4395;ESP6500_EA_AGE=570.3+/-389.3;ESP6500_EA_GTC=1025,2155,1120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152391.3:intron;ESP6500_GL=PQLC3;ESP6500_GRCh38_POSITION=2:11160606;ESP6500_GTC=1128,2838,2537;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152391.3:c.227-19C>T;ESP6500_MAF=48.8953,20.177,39.1665;ESP6500_TAC=5094,7912	GT:AD:DP:GQ:PL	0/1:44,66:110:99:1661,0,1134
chr2	11160743	rs6432182	T	C	1046.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.77;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6432182;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282712.1|protein_coding|3/4|c.*36T>C|||||36|,C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_152391.4|protein_coding|3/6|c.296+49T>C||||||,C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282710.1|protein_coding|3/5|c.296+49T>C||||||,C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NM_001282711.1|protein_coding|3/5|c.296+49T>C||||||,C|intron_variant|MODIFIER|PQLC3|PQLC3|transcript|NR_104231.1|pseudogene|3/7|n.471+49T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4673;p3_1000G_AF=0.933107;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DP=18781;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11300869;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8845;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4270,136;ESP6500_AA_AGE=97.1+/-135.8;ESP6500_AA_GTC=2068,134,1;ESP6500_CDS_SIZES=NM_152391.3:609;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=7575,1025;ESP6500_EA_AGE=218.8+/-257.1;ESP6500_EA_GTC=3336,903,61;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152391.3:intron;ESP6500_GL=PQLC3;ESP6500_GRCh38_POSITION=2:11160743;ESP6500_GTC=5404,1037,62;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152391.3:c.296+49T>C;ESP6500_MAF=11.9186,3.0867,8.9266;ESP6500_TAC=11845,1161	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1075,93,0
chr2	11193868	rs2271621;403386	T	G	204.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.6;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271621;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ROCK2|ROCK2|transcript|NM_004850.4|protein_coding|29/32|c.3609-11A>C||||||,G|intron_variant|MODIFIER|ROCK2|ROCK2|transcript|NM_001321643.1|protein_coding|29/32|c.3351-11A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1512;p3_1000G_AF=0.301917;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=14498;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.2853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11333994;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=417,3161;ESP6500_AA_GTC=31,355,1403;ESP6500_CDS_SIZES=NM_004850.3:4167;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=46;ESP6500_EA_AC=2284,5834;ESP6500_EA_GTC=322,1640,2097;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004850.3:intron;ESP6500_GL=ROCK2;ESP6500_GRCh38_POSITION=2:11193868;ESP6500_GTC=353,1995,3500;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004850.3:c.3609-11A>C;ESP6500_MAF=28.135,11.6546,23.0934;ESP6500_TAC=2701,8995;CLINVAR_ALLELEID=389448;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.11193868T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ROCK2:9475;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2271621	GT:AD:DP:GQ:PL	1/1:0,8:8:24:233,24,0
chr2	11218905	rs9808228	G	T	595.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9808228;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|ROCK2|ROCK2|transcript|NM_004850.4|protein_coding|10/32|c.1320+61C>A||||||,T|intron_variant|MODIFIER|ROCK2|ROCK2|transcript|NM_001321643.1|protein_coding|10/32|c.1062+61C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4714;p3_1000G_AF=0.941294;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=17183;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11359031;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:624,57,0
chr2	11562535	rs10929757	A	C	1113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10929757;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|GREB1|GREB1|transcript|NM_014668.3|protein_coding|3/33|c.230A>C|p.Asn77Thr|530/8482|230/5850|77/1949||,C|missense_variant|MODERATE|GREB1|GREB1|transcript|NM_148903.2|protein_coding|3/10|c.230A>C|p.Asn77Thr|546/2323|230/1230|77/409||,C|missense_variant|MODERATE|GREB1|GREB1|transcript|NM_033090.2|protein_coding|3/11|c.230A>C|p.Asn77Thr|481/2347|230/1374|77/457||;p3_1000G_AA=A|||;p3_1000G_AC=2082;p3_1000G_AF=0.415735;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=21025;p3_1000G_EAS_AF=0.5496;p3_1000G_EUR_AF=0.5427;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11702661;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=583,3823;ESP6500_AA_AGE=255.2+/-260.5;ESP6500_AA_GTC=47,489,1667;ESP6500_CDS_SIZES=NM_148903.2:1230,NM_033090.2:1374,NM_014668.3:5850;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=132;ESP6500_EA_AC=4845,3755;ESP6500_EA_AGE=616.8+/-396.6;ESP6500_EA_GTC=1351,2143,806;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_148903.2:missense,NM_033090.2:missense,NM_014668.3:missense;ESP6500_GL=GREB1;ESP6500_GRCh38_POSITION=2:11562535;ESP6500_GS=65,65,65;ESP6500_GTC=1398,2632,2473;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_148903.2:c.230A>C,NM_033090.2:c.230A>C,NM_014668.3:c.230A>C;ESP6500_HGVS_PROTEIN_VAR=NM_148903.2:p.(N77T),NM_033090.2:p.(N77T),NM_014668.3:p.(N77T);ESP6500_MAF=43.6628,13.232,41.7346;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=5428,7578	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1142,102,0
chr2	11578465	rs1529868	C	T	1278.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1529868;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|GREB1|GREB1|transcript|NM_014668.3|protein_coding|6/32|c.772+34C>T||||||,T|intron_variant|MODIFIER|GREB1|GREB1|transcript|NM_148903.2|protein_coding|6/9|c.772+34C>T||||||,T|intron_variant|MODIFIER|GREB1|GREB1|transcript|NM_033090.2|protein_coding|6/10|c.772+34C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2653;p3_1000G_AF=0.529752;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=17142;p3_1000G_EAS_AF=0.5486;p3_1000G_EUR_AF=0.5507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11718591;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2121,2285;ESP6500_AA_AGE=593.8+/-388.1;ESP6500_AA_GTC=510,1101,592;ESP6500_CDS_SIZES=NM_148903.2:1230,NM_033090.2:1374,NM_014668.3:5850;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=33;ESP6500_EA_AC=5031,3569;ESP6500_EA_AGE=508.4+/-377.0;ESP6500_EA_GTC=1471,2089,740;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_148903.2:intron,NM_033090.2:intron,NM_014668.3:intron;ESP6500_GL=GREB1;ESP6500_GRCh38_POSITION=2:11578465;ESP6500_GTC=1981,3190,1332;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_148903.2:c.772+34C>T,NM_033090.2:c.772+34C>T,NM_014668.3:c.772+34C>T;ESP6500_MAF=41.5,48.1389,45.01;ESP6500_TAC=7152,5854	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1307,120,0
chr2	11597965	rs1435547	T	C	1750.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1435547;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|GREB1|GREB1|transcript|NM_014668.3|protein_coding|14/33|c.2139T>C|p.His713His|2439/8482|2139/5850|713/1949||;p3_1000G_AA=C|||;p3_1000G_AC=4591;p3_1000G_AF=0.916733;p3_1000G_AFR_AF=0.7572;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=21061;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11738091;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3223,731;ESP6500_AA_GTC=1310,603,64;ESP6500_CDS_SIZES=NM_014668.3:5850;ESP6500_CG=-7.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=179;ESP6500_EA_AC=8265,41;ESP6500_EA_GTC=4112,41,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014668.3:coding-synonymous;ESP6500_GL=GREB1;ESP6500_GRCh38_POSITION=2:11597965;ESP6500_GTC=5422,644,64;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014668.3:c.2139T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014668.3:p.(H713);ESP6500_MAF=0.4936,18.4876,6.2969;ESP6500_TAC=11488,772	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1779,174,0
chr2	11598639	rs1865575	C	T	799.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1865575;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|GREB1|GREB1|transcript|NM_014668.3|protein_coding|14/32|c.2153-41C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4566;p3_1000G_AF=0.911741;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=22605;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11738765;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9601;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3267,799;ESP6500_AA_GTC=1306,655,72;ESP6500_CDS_SIZES=NM_014668.3:5850;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=138;ESP6500_EA_AC=8349,45;ESP6500_EA_GTC=4152,45,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014668.3:intron;ESP6500_GL=GREB1;ESP6500_GRCh38_POSITION=2:11598639;ESP6500_GTC=5458,700,72;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014668.3:c.2153-41C>T;ESP6500_MAF=0.5361,19.6508,6.7737;ESP6500_TAC=11616,844	GT:AD:DP:GQ:PL	1/1:0,24:24:72:828,72,0
chr2	11612509	rs2304399	T	C	873.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304399;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|GREB1|GREB1|transcript|NM_014668.3|protein_coding|19/33|c.3021T>C|p.Ile1007Ile|3321/8482|3021/5850|1007/1949||;p3_1000G_AA=C|||;p3_1000G_AC=4890;p3_1000G_AF=0.976438;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=17977;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11752635;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3741,153;ESP6500_AA_GTC=1801,139,7;ESP6500_CDS_SIZES=NM_014668.3:5850;ESP6500_CG=-11.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=138;ESP6500_EA_AC=8267,23;ESP6500_EA_GTC=4122,23,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014668.3:coding-synonymous;ESP6500_GL=GREB1;ESP6500_GRCh38_POSITION=2:11612509;ESP6500_GTC=5923,162,7;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014668.3:c.3021T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014668.3:p.(I1007);ESP6500_MAF=0.2774,3.9291,1.4445;ESP6500_TAC=12008,176	GT:AD:DP:GQ:PL	1/1:0,28:28:84:902,84,0
chr2	11615317	rs2252958	T	G	1160.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.23;SOR=3.545;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2252958;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GREB1|GREB1|transcript|NM_014668.3|protein_coding|20/32|c.3322+27T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4119;p3_1000G_AF=0.822484;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=20317;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.8101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11755443;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3024,1238;ESP6500_AA_GTC=1081,862,188;ESP6500_CDS_SIZES=NM_014668.3:5850;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=6862,1556;ESP6500_EA_GTC=2836,1190,183;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014668.3:intron;ESP6500_GL=GREB1;ESP6500_GRCh38_POSITION=2:11615317;ESP6500_GTC=3917,2052,371;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014668.3:c.3322+27T>G;ESP6500_MAF=18.4842,29.0474,22.0347;ESP6500_TAC=9886,2794	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1189,96,0
chr2	11627169	rs78763938	C	G	489.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.172;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=-2.566;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78763938;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|GREB1|GREB1|transcript|NM_014668.3|protein_coding|25/32|c.4449+65C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=511;p3_1000G_AF=0.102037;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=21081;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.0547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11767295;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,17:28:99:518,0,350
chr2	11631824	rs3792032	G	A	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.881;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-2.187;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3792032;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|GREB1|GREB1|transcript|NM_014668.3|protein_coding|26/32|c.4612-85G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=521;p3_1000G_AF=0.104034;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=23485;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.0557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11771950;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:230,0,343
chr2	11669969	rs6432225	G	A	1996.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6432225;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|NTSR2|NTSR2|transcript|NM_012344.3|protein_coding|1/4|c.161C>T|p.Ala54Val|235/1608|161/1233|54/410||;p3_1000G_AA=A|||;p3_1000G_AC=4861;p3_1000G_AF=0.970647;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=13369;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11810095;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2726,124;ESP6500_AA_GTC=1301,124,0;ESP6500_CDS_SIZES=NM_012344.3:1233;ESP6500_CG=-4.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=2;ESP6500_EA_AC=5587,3;ESP6500_EA_GTC=2792,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012344.3:missense;ESP6500_GL=NTSR2;ESP6500_GRCh38_POSITION=2:11669969;ESP6500_GS=64;ESP6500_GTC=4093,127,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012344.3:c.161C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012344.3:p.(A54V);ESP6500_MAF=0.0537,4.3509,1.5047;ESP6500_PH=benign:0.0;ESP6500_TAC=8313,127	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2025,198,0
chr2	11713596	rs73181378	T	C	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs73181378;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|LPIN1|LPIN1|transcript|NM_001261428.1|protein_coding|1/21|c.82-160T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=390;p3_1000G_AF=0.0778754;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=18770;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.0209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11853722;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr2	11713787	rs4614906;403045	G	A	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=1.07;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4614906;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|LPIN1|LPIN1|transcript|NM_001261428.1|protein_coding|2/22|c.113G>A|p.Arg38Gln|182/5613|113/2928|38/975||;p3_1000G_AA=G|||;p3_1000G_AC=788;p3_1000G_AF=0.157348;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=19758;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11853913;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;CLINVAR_ALLELEID=389482;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.11713787G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LPIN1:23175;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4614906	GT:AD:DP:GQ:PL	0/1:4,3:7:86:86,0,108
chr2	11713838	rs4640359	G	A	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.242;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-1.085;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4640359;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|LPIN1|LPIN1|transcript|NM_001261428.1|protein_coding|2/21|c.138+26G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=816;p3_1000G_AF=0.162939;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=19530;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.2296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11853964;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:102,0,101
chr2	11804982	rs1331063626	GT	G	44.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.398;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=-0.967;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|LPIN1|LPIN1|transcript|NM_001261428.1|protein_coding|17/21|c.2310-72delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LPIN1|LPIN1|transcript|NM_001261427.1|protein_coding|16/20|c.2073-72delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LPIN1|LPIN1|transcript|NM_145693.2|protein_coding|15/19|c.2055-72delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,5:9:72:0|1:11804982_GT_G:82,0,72
chr2	12724640	rs2288192	C	T	1118.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288192;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TRIB2|TRIB2|transcript|NM_021643.3|protein_coding|2/2|c.563+1088C>T||||||,T|intron_variant|MODIFIER|TRIB2|TRIB2|transcript|NR_027303.1|pseudogene|2/2|n.432+1088C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1484;p3_1000G_AF=0.296326;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=18822;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.2177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12864766;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=155,1597;ESP6500_AA_GTC=14,127,735;ESP6500_CDS_SIZES=NM_021643.3:1032;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=603;ESP6500_EA_AC=816,3166;ESP6500_EA_GTC=68,680,1243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021643.3:intron;ESP6500_GL=TRIB2;ESP6500_GRCh38_POSITION=2:12724640;ESP6500_GTC=82,807,1978;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021643.3:c.563+1088C>T;ESP6500_MAF=20.4922,8.847,16.9341;ESP6500_TAC=971,4763	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1147,105,0
chr2	12724922	rs2288191	A	T	96.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288191;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TRIB2|TRIB2|transcript|NM_021643.3|protein_coding|2/2|c.563+1370A>T||||||,T|intron_variant|MODIFIER|TRIB2|TRIB2|transcript|NR_027303.1|pseudogene|2/2|n.432+1370A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1485;p3_1000G_AF=0.296526;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=21347;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12865048;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:124,9,0
chr2	15178946	rs397983937;rs546435356;rs5829492	TA	T	152.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.282;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5829492;dbSNPBuildID=134,142,138;ANN=T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|51/51|c.6840+41delT||||||,T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|50/50|n.6688+41delT||||||	GT:AD:DP:GQ:PL	0/1:1,8:9:0:187,0,0
chr2	15234763	rs34561027	A	G	358.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.139;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.344;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.738;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34561027;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|45/51|c.5944-16T>C||||||,G|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|45/50|n.5988-16T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=926;p3_1000G_AF=0.184904;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=22132;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.0974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15374887;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=529,3877;ESP6500_AA_AGE=235.8+/-248.2;ESP6500_AA_GTC=36,457,1710;ESP6500_CDS_SIZES=NM_015909.3:7116;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=62;ESP6500_EA_AC=822,7778;ESP6500_EA_AGE=190.8+/-237.2;ESP6500_EA_GTC=43,736,3521;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015909.3:intron;ESP6500_GL=NBAS;ESP6500_GRCh38_POSITION=2:15234763;ESP6500_GTC=79,1193,5231;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015909.3:c.5944-16T>C;ESP6500_MAF=9.5581,12.0064,10.3875;ESP6500_TAC=1351,11655	GT:AD:DP:GQ:PL	0/1:23,16:39:99:387,0,616
chr2	15238698	rs140225141;~rs111370598	G	GAATT	717.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=2.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs57516013,rs140225141,rs111370598;dbSNPBuildID=134;ANN=GAATT|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|44/51|c.5725-13_5725-12insAATT||||||,GAATT|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|44/50|n.5769-13_5769-12insAATT||||||;p3_1000G_AC=4925;p3_1000G_AF=0.983427;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16642;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15378822;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9458;p3_1000G_VT=INDEL;ESP6500_AA_AC=4222,28;ESP6500_AA_GTC=2097,28,0;ESP6500_CDS_SIZES=NM_015909.3:7116;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=40;ESP6500_EA_AC=8046,196;ESP6500_EA_GTC=3928,190,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015909.3:intron;ESP6500_GL=NBAS;ESP6500_GRCh38_POSITION=2:15238698;ESP6500_GTC=6025,218,3;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015909.3:c.5725-13_5725-12insAATT;ESP6500_MAF=2.3781,0.6588,1.7931;ESP6500_TAC=12268,224	GT:AD:DP:GQ:PL	1/1:0,17:17:51:755,51,0
chr2	15275401	rs3755127	C	T	397.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3755127;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|44/51|c.5724+83G>A||||||,T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|44/50|n.5768+83G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3572;p3_1000G_AF=0.713259;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=18894;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.4423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15415525;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:426,36,0
chr2	15277156	rs3214432;rs397775849	ATT	A	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3214432;dbSNPBuildID=106,138;ANN=A|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|42/51|c.5139-57_5139-56delAA||||||,A|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|42/50|n.5183-57_5183-56delAA||||||;p3_1000G_AC=3530;p3_1000G_AF=0.704872;p3_1000G_AFR_AF=0.9312;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=19666;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.4364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15417280;p3_1000G_GRCH37_REF=ATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:15277156_ATT_A:180,12,0
chr2	15277161	rs75287593	T	A	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75287593;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|42/51|c.5139-60A>T||||||,A|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|42/50|n.5183-60A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3530;p3_1000G_AF=0.704872;p3_1000G_AFR_AF=0.9312;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=18413;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.4364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15417285;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:15277156_ATT_A:180,12,0
chr2	15287049	rs4668892	C	T	1108.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4668892;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|42/51|c.5138+24G>A||||||,T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|42/50|n.5182+24G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3342;p3_1000G_AF=0.667332;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=21540;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.4215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15427173;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3266,1140;ESP6500_AA_AGE=716.1+/-408.6;ESP6500_AA_GTC=1222,822,159;ESP6500_CDS_SIZES=NM_015909.3:7116;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=75;ESP6500_EA_AC=3696,4904;ESP6500_EA_AGE=528.9+/-381.5;ESP6500_EA_GTC=785,2126,1389;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015909.3:intron;ESP6500_GL=NBAS;ESP6500_GRCh38_POSITION=2:15287049;ESP6500_GTC=2007,2948,1548;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015909.3:c.5138+24G>A;ESP6500_MAF=42.9767,25.8738,46.4709;ESP6500_TAC=6962,6044	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1137,114,0
chr2	15308187	rs1318102	A	T	881.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1318102;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|40/51|c.4797+29T>A||||||,T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|40/50|n.4841+29T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3347;p3_1000G_AF=0.668331;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=19184;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.4334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15448311;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3217,1189;ESP6500_AA_AGE=413.0+/-336.3;ESP6500_AA_GTC=1173,871,159;ESP6500_CDS_SIZES=NM_015909.3:7116;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=60;ESP6500_EA_AC=3838,4762;ESP6500_EA_AGE=609.6+/-395.6;ESP6500_EA_GTC=863,2112,1325;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015909.3:intron;ESP6500_GL=NBAS;ESP6500_GRCh38_POSITION=2:15308187;ESP6500_GTC=2036,2983,1484;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015909.3:c.4797+29T>A;ESP6500_MAF=44.6279,26.9859,45.7558;ESP6500_TAC=7055,5951	GT:AD:DP:GQ:PL	1/1:0,29:29:87:910,87,0
chr2	15327901	rs2042145	T	C	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.26;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.87;ReadPosRankSum=-1.81;SOR=0.098;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2042145;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|37/51|c.4462-31A>G||||||,C|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|37/50|n.4506-31A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1289;p3_1000G_AF=0.257388;p3_1000G_AFR_AF=0.3933;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=18190;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.2207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15468025;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1481,2925;ESP6500_AA_AGE=463.8+/-353.7;ESP6500_AA_GTC=247,987,969;ESP6500_CDS_SIZES=NM_015909.3:7116;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=86;ESP6500_EA_AC=1741,6859;ESP6500_EA_AGE=312.3+/-310.8;ESP6500_EA_GTC=194,1353,2753;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015909.3:intron;ESP6500_GL=NBAS;ESP6500_GRCh38_POSITION=2:15327901;ESP6500_GTC=441,2340,3722;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015909.3:c.4462-31A>G;ESP6500_MAF=20.2442,33.6133,24.7732;ESP6500_TAC=3222,9784	GT:AD:DP:GQ:PL	0/1:6,11:17:99:315,0,168
chr2	15383142	rs6756934	A	T	149.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.97;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6756934;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|29/51|c.3360+73T>A||||||,T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|29/50|n.3404+73T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4918;p3_1000G_AF=0.982029;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=17184;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15523266;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:178,18,0
chr2	15551667	rs55977282	G	T	300.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55977282;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NM_015909.3|protein_coding|5/51|c.336-131C>A||||||,T|intron_variant|MODIFIER|NBAS|NBAS|transcript|NR_052013.2|pseudogene|5/50|n.380-131C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1649;p3_1000G_AF=0.329273;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=16944;p3_1000G_EAS_AF=0.6657;p3_1000G_EUR_AF=0.2445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15691791;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:329,24,0
chr2	15591874	rs10221770	A	G	143.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.97;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10221770;dbSNPBuildID=119;ANN=G|5_prime_UTR_variant|MODIFIER|DDX1|DDX1|transcript|NM_004939.2|protein_coding|1/26|c.-60A>G|||||60|;p3_1000G_AA=G|||;p3_1000G_AC=3857;p3_1000G_AF=0.770168;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=13264;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.5775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15731998;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1175,203;ESP6500_AA_GTC=501,173,15;ESP6500_CDS_SIZES=NM_004939.2:2223;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=20;ESP6500_EA_AC=1966,1214;ESP6500_EA_GTC=598,770,222;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004939.2:utr-5;ESP6500_GL=DDX1;ESP6500_GRCh38_POSITION=2:15591874;ESP6500_GTC=1099,943,237;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004939.2:c.-60A>G;ESP6500_MAF=38.1761,14.7315,31.0882;ESP6500_TAC=3141,1417	GT:AD:DP:GQ:PL	1/1:0,6:6:18:172,18,0
chr2	15595524	rs2302929	T	C	1169.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2302929;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|DDX1|DDX1|transcript|NM_004939.2|protein_coding|3/26|c.103T>C|p.Leu35Leu|416/2741|103/2223|35/740||;p3_1000G_AA=T|||;p3_1000G_AC=876;p3_1000G_AF=0.17492;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=18132;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.164;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15735648;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=272,4134;ESP6500_AA_AGE=154.0+/-187.5;ESP6500_AA_GTC=8,256,1939;ESP6500_CDS_SIZES=NM_004939.2:2223;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=125;ESP6500_EA_AC=1624,6976;ESP6500_EA_AGE=301.6+/-305.5;ESP6500_EA_GTC=162,1300,2838;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004939.2:coding-synonymous;ESP6500_GL=DDX1;ESP6500_GRCh38_POSITION=2:15595524;ESP6500_GTC=170,1556,4777;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004939.2:c.103T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004939.2:p.(L35);ESP6500_MAF=18.8837,6.1734,14.5779;ESP6500_TAC=1896,11110	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1198,108,0
chr2	15606096	rs41264195	C	T	2031.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=0.849;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41264195;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|DDX1|DDX1|transcript|NM_004939.2|protein_coding|11/25|c.703-54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=837;p3_1000G_AF=0.167133;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=19452;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.1382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15746220;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2106;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2060,201,0
chr2	15607269	rs10929378	C	T	861.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10929378;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|DDX1|DDX1|transcript|NM_004939.2|protein_coding|13/26|c.912C>T|p.Asn304Asn|1225/2741|912/2223|304/740||;p3_1000G_AA=T|||;p3_1000G_AC=3730;p3_1000G_AF=0.744808;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=16576;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.5497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15747393;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3564,842;ESP6500_AA_AGE=332.5+/-302.5;ESP6500_AA_GTC=1439,686,78;ESP6500_CDS_SIZES=NM_004939.2:2223;ESP6500_CG=-0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=95;ESP6500_EA_AC=4944,3656;ESP6500_EA_AGE=525.0+/-380.7;ESP6500_EA_GTC=1405,2134,761;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004939.2:coding-synonymous;ESP6500_GL=DDX1;ESP6500_GRCh38_POSITION=2:15607269;ESP6500_GTC=2844,2820,839;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004939.2:c.912C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004939.2:p.(N304);ESP6500_MAF=42.5116,19.1103,34.584;ESP6500_TAC=8508,4498	GT:AD:DP:GQ:PL	1/1:0,30:30:90:890,90,0
chr2	15629483	rs807635	C	T	89.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs807635;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|DDX1|DDX1|transcript|NM_004939.2|protein_coding|23/25|c.1876-119C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=815;p3_1000G_AF=0.16274;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=16509;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.1352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15769607;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:117,9,0
chr2	17515306	rs834514	C	T	3156.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=1.081;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs834514;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|RAD51AP2|RAD51AP2|transcript|NM_001099218.2|protein_coding|1/3|c.3110G>A|p.Gly1037Asp|3134/3589|3110/3480|1037/1159||,T|missense_variant|MODERATE|RAD51AP2|RAD51AP2|transcript|NM_001321233.1|protein_coding|5/7|c.3083G>A|p.Gly1028Asp|3492/4082|3083/3453|1028/1150||;p3_1000G_AA=C|||;p3_1000G_AC=2908;p3_1000G_AF=0.580671;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=19259;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17696573;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=955,2719;ESP6500_AA_GTC=136,683,1018;ESP6500_CDS_SIZES=NM_001099218.2:3480;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=142;ESP6500_EA_AC=5110,3072;ESP6500_EA_GTC=1605,1900,586;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001099218.2:missense;ESP6500_GL=RAD51AP2;ESP6500_GRCh38_POSITION=2:17515306;ESP6500_GS=94;ESP6500_GTC=1741,2583,1604;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001099218.2:c.3110G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001099218.2:p.(G1037D);ESP6500_MAF=37.5458,25.9935,48.8445;ESP6500_PH=benign:0.087;ESP6500_TAC=6065,5791	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3185,303,0
chr2	17516315	rs575308098	A	G	744.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.532;SOR=0.716;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|missense_variant|MODERATE|RAD51AP2|RAD51AP2|transcript|NM_001099218.2|protein_coding|1/3|c.2101T>C|p.Ser701Pro|2125/3589|2101/3480|701/1159||,G|missense_variant|MODERATE|RAD51AP2|RAD51AP2|transcript|NM_001321233.1|protein_coding|5/7|c.2074T>C|p.Ser692Pro|2483/4082|2074/3453|692/1150||;p3_1000G_AA=A|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16957;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17697582;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,29:62:99:773,0,915
chr2	17517411	rs665312	A	G	1920.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs665312;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|RAD51AP2|RAD51AP2|transcript|NM_001099218.2|protein_coding|1/3|c.1005T>C|p.Ser335Ser|1029/3589|1005/3480|335/1159||,G|synonymous_variant|LOW|RAD51AP2|RAD51AP2|transcript|NM_001321233.1|protein_coding|5/7|c.978T>C|p.Ser326Ser|1387/4082|978/3453|326/1150||;p3_1000G_AA=G|||;p3_1000G_AC=2999;p3_1000G_AF=0.598842;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=19036;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.6491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17698678;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1053,2575;ESP6500_AA_GTC=167,719,928;ESP6500_CDS_SIZES=NM_001099218.2:3480;ESP6500_CG=1.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=69;ESP6500_EA_AC=5373,2787;ESP6500_EA_GTC=1773,1827,480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001099218.2:coding-synonymous;ESP6500_GL=RAD51AP2;ESP6500_GRCh38_POSITION=2:17517411;ESP6500_GTC=1940,2546,1408;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001099218.2:c.1005T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001099218.2:p.(S335);ESP6500_MAF=34.1544,29.0243,45.4869;ESP6500_TAC=6426,5362	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1949,159,0
chr2	17592257	rs2680827	G	A	878.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=2.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2680827;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|VSNL1|VSNL1|transcript|NM_003385.4|protein_coding|2/3|c.162+21G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3527;p3_1000G_AF=0.704273;p3_1000G_AFR_AF=0.3691;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=18876;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.6918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17773524;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1953,2453;ESP6500_AA_AGE=622.4+/-393.9;ESP6500_AA_GTC=421,1111,671;ESP6500_CDS_SIZES=NM_003385.4:576;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=93;ESP6500_EA_AC=6009,2591;ESP6500_EA_AGE=420.9+/-353.5;ESP6500_EA_GTC=2085,1839,376;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003385.4:intron;ESP6500_GL=VSNL1;ESP6500_GRCh38_POSITION=2:17592257;ESP6500_GTC=2506,2950,1047;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003385.4:c.162+21G>A;ESP6500_MAF=30.1279,44.3259,38.7821;ESP6500_TAC=7962,5044	GT:AD:DP:GQ:PL	1/1:0,27:27:81:907,81,0
chr2	17655455	rs563919813	TCACA	T	506.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.27;SOR=4.047;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=142;ANN=T|3_prime_UTR_variant|MODIFIER|VSNL1|VSNL1|transcript|NM_003385.4|protein_coding|4/4|c.*104_*107delCACA|||||104|INFO_REALIGN_3_PRIME;p3_1000G_AC=2352;p3_1000G_AF=0.469649;p3_1000G_AFR_AF=0.4145;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=15485;p3_1000G_EAS_AF=0.7857;p3_1000G_EUR_AF=0.1998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17836722;p3_1000G_GRCH37_REF=TCACA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:39:530,39,0
chr2	17760156	rs2555072	T	G	452.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.83;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2555072;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|2/13|c.161+52T>G||||||,G|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_182625.4|protein_coding|2/13|c.161+52T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3550;p3_1000G_AF=0.708866;p3_1000G_AFR_AF=0.4274;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=20036;p3_1000G_EAS_AF=0.9554;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17941423;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8845;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1334,1320;ESP6500_AA_GTC=337,660,330;ESP6500_CDS_SIZES=NM_182625.3:2727,NM_001130009.1:2727;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=2882,1736;ESP6500_EA_GTC=897,1088,324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182625.3:intron,NM_001130009.1:intron;ESP6500_GL=GEN1;ESP6500_GRCh38_POSITION=2:17760156;ESP6500_GTC=1234,1748,654;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_182625.3:c.161+52T>G,NM_001130009.1:c.161+52T>G;ESP6500_MAF=37.592,49.7362,42.0242;ESP6500_TAC=4216,3056	GT:AD:DP:GQ:PL	1/1:0,13:13:39:481,39,0
chr2	17761508	rs1812152	T	A	968.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.68;SOR=1.308;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1812152;dbSNPBuildID=92;ANN=A|missense_variant|MODERATE|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|3/14|c.274T>A|p.Ser92Thr|475/6902|274/2727|92/908||,A|missense_variant|MODERATE|GEN1|GEN1|transcript|NM_182625.4|protein_coding|3/14|c.274T>A|p.Ser92Thr|399/6826|274/2727|92/908||;p3_1000G_AA=A|||;p3_1000G_AC=4075;p3_1000G_AF=0.813698;p3_1000G_AFR_AF=0.7708;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=16335;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17942775;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3347,1059;ESP6500_AA_AGE=386.3+/-326.1;ESP6500_AA_GTC=1278,791,134;ESP6500_CDS_SIZES=NM_182625.3:2727,NM_001130009.1:2727;ESP6500_CG=0.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=89;ESP6500_EA_AC=5383,3217;ESP6500_EA_AGE=487.0+/-372.0;ESP6500_EA_GTC=1671,2041,588;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182625.3:missense,NM_001130009.1:missense;ESP6500_GL=GEN1;ESP6500_GRCh38_POSITION=2:17761508;ESP6500_GS=58,58;ESP6500_GTC=2949,2832,722;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_182625.3:c.274T>A,NM_001130009.1:c.274T>A;ESP6500_HGVS_PROTEIN_VAR=NM_182625.3:p.(S92T),NM_001130009.1:p.(S92T);ESP6500_MAF=37.407,24.0354,32.8771;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8730,4276	GT:AD:DP:GQ:PL	1/1:0,35:35:99:997,105,0
chr2	17772760	rs300175	G	A	1156.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs300175;dbSNPBuildID=79;ANN=A|missense_variant|MODERATE|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|8/14|c.929G>A|p.Ser310Asn|1130/6902|929/2727|310/908||,A|missense_variant|MODERATE|GEN1|GEN1|transcript|NM_182625.4|protein_coding|8/14|c.929G>A|p.Ser310Asn|1054/6826|929/2727|310/908||;p3_1000G_AA=G|||;p3_1000G_AC=4893;p3_1000G_AF=0.977037;p3_1000G_AFR_AF=0.9387;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17724;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17954027;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4194,212;ESP6500_AA_AGE=804.8+/-415.8;ESP6500_AA_GTC=1996,202,5;ESP6500_CDS_SIZES=NM_182625.3:2727,NM_001130009.1:2727;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=75;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=817.2+/-406.9;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182625.3:missense,NM_001130009.1:missense;ESP6500_GL=GEN1;ESP6500_GRCh38_POSITION=2:17772760;ESP6500_GS=46,46;ESP6500_GTC=6294,204,5;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182625.3:c.929G>A,NM_001130009.1:c.929G>A;ESP6500_HGVS_PROTEIN_VAR=NM_182625.3:p.(S310N),NM_001130009.1:p.(S310N);ESP6500_MAF=0.0233,4.8116,1.6454;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=12792,214	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1185,114,0
chr2	17773154	rs300177	C	G	1025.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs300177;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|9/13|c.990+22C>G||||||,G|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_182625.4|protein_coding|9/13|c.990+22C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4064;p3_1000G_AF=0.811502;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=16767;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17954421;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3283,1081;ESP6500_AA_GTC=1250,783,149;ESP6500_CDS_SIZES=NM_182625.3:2727,NM_001130009.1:2727;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=25;ESP6500_EA_AC=5359,3179;ESP6500_EA_GTC=1668,2023,578;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182625.3:intron,NM_001130009.1:intron;ESP6500_GL=GEN1;ESP6500_GRCh38_POSITION=2:17773154;ESP6500_GTC=2918,2806,727;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_182625.3:c.990+22C>G,NM_001130009.1:c.990+22C>G;ESP6500_MAF=37.2335,24.7709,33.0181;ESP6500_TAC=8642,4260	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1054,104,0
chr2	17773380	rs300178	T	G	311.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.64;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs300178;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|10/13|c.1071+81T>G||||||,G|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_182625.4|protein_coding|10/13|c.1071+81T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3797;p3_1000G_AF=0.758187;p3_1000G_AFR_AF=0.5719;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=16623;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17954647;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:340,27,0
chr2	17777832	rs2615049	T	G	55.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2615049;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|11/13|c.1203-170T>G||||||,G|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_182625.4|protein_coding|11/13|c.1203-170T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2873;p3_1000G_AF=0.573682;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=16080;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.5249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17959099;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0
chr2	17778153	rs1491213637;rs70964006	TAC	T	42.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.35;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10535305,rs70964006;dbSNPBuildID=151,130;ANN=T|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|12/13|c.1264+100_1264+101delCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|GEN1|GEN1|transcript|NM_182625.4|protein_coding|12/13|c.1264+100_1264+101delCA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr2	17781183	rs300168	A	G	1950.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=0.831;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs300168;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|14/14|c.1971A>G|p.Glu657Glu|2172/6902|1971/2727|657/908||,G|synonymous_variant|LOW|GEN1|GEN1|transcript|NM_182625.4|protein_coding|14/14|c.1971A>G|p.Glu657Glu|2096/6826|1971/2727|657/908||;p3_1000G_AA=A|||;p3_1000G_AC=2874;p3_1000G_AF=0.573882;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=19873;p3_1000G_EAS_AF=0.9226;p3_1000G_EUR_AF=0.5249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17962450;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1084,3322;ESP6500_AA_AGE=389.8+/-327.4;ESP6500_AA_GTC=148,788,1267;ESP6500_CDS_SIZES=NM_182625.3:2727,NM_001130009.1:2727;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=71;ESP6500_EA_AC=4458,4142;ESP6500_EA_AGE=585.7+/-391.9;ESP6500_EA_GTC=1162,2134,1004;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182625.3:coding-synonymous,NM_001130009.1:coding-synonymous;ESP6500_GL=GEN1;ESP6500_GRCh38_POSITION=2:17781183;ESP6500_GTC=1310,2922,2271;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182625.3:c.1971A>G,NM_001130009.1:c.1971A>G;ESP6500_HGVS_PROTEIN_VAR=NM_182625.3:p.(E657),NM_001130009.1:p.(E657);ESP6500_MAF=48.1628,24.6028,42.6111;ESP6500_TAC=5542,7464	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1979,180,0
chr2	17781251	rs300169	C	T	2187.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=0.75;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs300169;dbSNPBuildID=79;ANN=T|missense_variant|MODERATE|GEN1|GEN1|transcript|NM_001130009.2|protein_coding|14/14|c.2039C>T|p.Thr680Ile|2240/6902|2039/2727|680/908||,T|missense_variant|MODERATE|GEN1|GEN1|transcript|NM_182625.4|protein_coding|14/14|c.2039C>T|p.Thr680Ile|2164/6826|2039/2727|680/908||;p3_1000G_AA=T|||;p3_1000G_AC=3796;p3_1000G_AF=0.757987;p3_1000G_AFR_AF=0.5719;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19537;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.6372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17962518;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2676,1730;ESP6500_AA_AGE=511.6+/-367.8;ESP6500_AA_GTC=809,1058,336;ESP6500_CDS_SIZES=NM_182625.3:2727,NM_001130009.1:2727;ESP6500_CG=1.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=66;ESP6500_EA_AC=5371,3229;ESP6500_EA_AGE=484.7+/-371.5;ESP6500_EA_GTC=1667,2037,596;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182625.3:missense,NM_001130009.1:missense;ESP6500_GL=GEN1;ESP6500_GRCh38_POSITION=2:17781251;ESP6500_GS=89,89;ESP6500_GTC=2476,3095,932;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182625.3:c.2039C>T,NM_001130009.1:c.2039C>T;ESP6500_HGVS_PROTEIN_VAR=NM_182625.3:p.(T680I),NM_001130009.1:p.(T680I);ESP6500_MAF=37.5465,39.2646,38.1286;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8047,4959	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2216,209,0
chr2	17931206	rs4240213	G	A	2676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=0.716;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4240213;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|KCNS3|KCNS3|transcript|NM_001282428.1|protein_coding|3/3|c.198G>A|p.Glu66Glu|649/2401|198/1476|66/491||,A|synonymous_variant|LOW|KCNS3|KCNS3|transcript|NM_002252.4|protein_coding|3/3|c.198G>A|p.Glu66Glu|599/2351|198/1476|66/491||;p3_1000G_AA=A|||;p3_1000G_AC=4713;p3_1000G_AF=0.941094;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=21753;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18112473;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3744,662;ESP6500_AA_AGE=282.5+/-276.6;ESP6500_AA_GTC=1585,574,44;ESP6500_CDS_SIZES=NM_002252.3:1476;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=125;ESP6500_EA_AC=8327,273;ESP6500_EA_AGE=104.8+/-165.8;ESP6500_EA_GTC=4032,263,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002252.3:coding-synonymous;ESP6500_GL=KCNS3;ESP6500_GRCh38_POSITION=2:17931206;ESP6500_GTC=5617,837,49;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002252.3:c.198G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002252.3:p.(E66);ESP6500_MAF=3.1744,15.025,7.189;ESP6500_TAC=12071,935	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2705,254,0
chr2	17932356	rs4832524	A	G	2301.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=0.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832524;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|KCNS3|KCNS3|transcript|NM_001282428.1|protein_coding|3/3|c.1348A>G|p.Thr450Ala|1799/2401|1348/1476|450/491||,G|missense_variant|MODERATE|KCNS3|KCNS3|transcript|NM_002252.4|protein_coding|3/3|c.1348A>G|p.Thr450Ala|1749/2351|1348/1476|450/491||;p3_1000G_AA=G|||;p3_1000G_AC=3987;p3_1000G_AF=0.796126;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=21769;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.6074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18113623;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3183,1223;ESP6500_AA_AGE=424.0+/-340.3;ESP6500_AA_GTC=1142,899,162;ESP6500_CDS_SIZES=NM_002252.3:1476;ESP6500_CG=3.9;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=150;ESP6500_EA_AC=5477,3123;ESP6500_EA_AGE=477.4+/-369.6;ESP6500_EA_GTC=1747,1983,570;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002252.3:missense;ESP6500_GL=KCNS3;ESP6500_GRCh38_POSITION=2:17932356;ESP6500_GS=58;ESP6500_GTC=2889,2882,732;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002252.3:c.1348A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002252.3:p.(T450A);ESP6500_MAF=36.314,27.7576,33.4153;ESP6500_PH=benign:0.0;ESP6500_TAC=8660,4346	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2330,206,0
chr2	17932522	rs3747515	G	A	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.909;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=10.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.832;SOR=3.69;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747515;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|KCNS3|KCNS3|transcript|NM_001282428.1|protein_coding|3/3|c.*38G>A|||||38|,A|3_prime_UTR_variant|MODIFIER|KCNS3|KCNS3|transcript|NM_002252.4|protein_coding|3/3|c.*38G>A|||||38|;p3_1000G_AA=G|||;p3_1000G_AC=1291;p3_1000G_AF=0.257788;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=20543;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.3449;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18113789;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=700,3678;ESP6500_AA_GTC=67,566,1556;ESP6500_CDS_SIZES=NM_002252.3:1476;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=37;ESP6500_EA_AC=3119,5455;ESP6500_EA_GTC=574,1971,1742;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002252.3:utr-3;ESP6500_GL=KCNS3;ESP6500_GRCh38_POSITION=2:17932522;ESP6500_GTC=641,2537,3298;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002252.3:c.*38G>A;ESP6500_MAF=36.3774,15.989,29.4858;ESP6500_TAC=3819,9133	GT:AD:DP:GQ:PL	0/1:15,14:29:99:436,0,500
chr2	19931423	rs1191779;167846	C	A	930.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1191779;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_001006657.1|protein_coding|24/27|c.2857-14G>T||||||,A|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_020779.3|protein_coding|23/26|c.2824-14G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4832;p3_1000G_AF=0.964856;p3_1000G_AFR_AF=0.8949;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=15377;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20131184;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3962,442;ESP6500_AA_AGE=189.9+/-215.9;ESP6500_AA_GTC=1801,360,41;ESP6500_CDS_SIZES=NM_020779.3:3513,NM_001006657.1:3546;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=100;ESP6500_EA_AC=8581,19;ESP6500_EA_AGE=14.0+/-48.4;ESP6500_EA_GTC=4281,19,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020779.3:intron,NM_001006657.1:intron;ESP6500_GL=WDR35;ESP6500_GRCh38_POSITION=2:19931423;ESP6500_GTC=6082,379,41;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020779.3:c.2824-14G>T,NM_001006657.1:c.2857-14G>T;ESP6500_MAF=0.2209,10.0363,3.5451;ESP6500_TAC=12543,461;CLINVAR_ALLELEID=178154;CLINVAR_CLNDISDB=MedGen:C0036996|MedGen:CN119432,Orphanet:ORPHA1515,SNOMED_CT:254093009|MedGen:CN169374;CLINVAR_CLNDN=Short_Rib_Polydactyly_Syndrome|Cranioectodermal_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.19931423C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24008;CLINVAR_GENEINFO=WDR35:57539;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1191779	GT:AD:DP:GQ:PL	1/1:0,29:29:87:959,87,0
chr2	19932226	rs4294960	T	C	503.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4294960;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_001006657.1|protein_coding|24/27|c.2856+57A>G||||||,C|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_020779.3|protein_coding|23/26|c.2823+57A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1149;p3_1000G_AF=0.229433;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=17091;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20131987;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:532,42,0
chr2	19935522	rs6741091;256877	T	C	1359.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.75;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6741091;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|WDR35|WDR35|transcript|NM_001006657.1|protein_coding|22/28|c.2529A>G|p.Glu843Glu|2637/6946|2529/3546|843/1181||,C|synonymous_variant|LOW|WDR35|WDR35|transcript|NM_020779.3|protein_coding|21/27|c.2496A>G|p.Glu832Glu|2604/6913|2496/3513|832/1170||;p3_1000G_AA=C|||;p3_1000G_AC=2558;p3_1000G_AF=0.510783;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=15149;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.4026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20135283;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1990,2416;ESP6500_AA_AGE=614.2+/-392.3;ESP6500_AA_GTC=473,1044,686;ESP6500_CDS_SIZES=NM_020779.3:3513,NM_001006657.1:3546;ESP6500_CG=-4.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=104;ESP6500_EA_AC=3599,5001;ESP6500_EA_AGE=625.0+/-397.7;ESP6500_EA_GTC=757,2085,1458;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020779.3:coding-synonymous,NM_001006657.1:coding-synonymous;ESP6500_GL=WDR35;ESP6500_GRCh38_POSITION=2:19935522;ESP6500_GTC=1230,3129,2144;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020779.3:c.2496A>G,NM_001006657.1:c.2529A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020779.3:p.(E832),NM_001006657.1:p.(E843);ESP6500_MAF=41.8488,45.1657,42.9725;ESP6500_TAC=5589,7417;CLINVAR_AF_ESP=0.4297;CLINVAR_AF_EXAC=0.47346;CLINVAR_ALLELEID=250472;CLINVAR_CLNDISDB=MedGen:C0036996|MedGen:CN119432,Orphanet:ORPHA1515,SNOMED_CT:254093009|MedGen:CN169374;CLINVAR_CLNDN=Short_Rib_Polydactyly_Syndrome|Cranioectodermal_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.19935522T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24020;CLINVAR_GENEINFO=WDR35:57539;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6741091	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1388,147,0
chr2	19960489	rs12996974	G	C	427.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12996974;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_001006657.1|protein_coding|12/27|c.1288+65C>G||||||,C|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_020779.3|protein_coding|11/26|c.1255+65C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1147;p3_1000G_AF=0.229034;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=16696;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20160250;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=333,1049;ESP6500_AA_GTC=44,245,402;ESP6500_CDS_SIZES=NM_020779.3:3513,NM_001006657.1:3546;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=40;ESP6500_EA_AC=802,2342;ESP6500_EA_GTC=103,596,873;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020779.3:intron,NM_001006657.1:intron;ESP6500_GL=WDR35;ESP6500_GRCh38_POSITION=2:19960489;ESP6500_GTC=147,841,1275;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020779.3:c.1255+65C>G,NM_001006657.1:c.1288+65C>G;ESP6500_MAF=25.5089,24.0955,25.0773;ESP6500_TAC=1135,3391	GT:AD:DP:GQ:PL	1/1:0,14:14:42:456,42,0
chr2	19973494	rs10153717	A	C	197.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10153717;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_001006657.1|protein_coding|8/27|c.882+69T>G||||||,C|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_020779.3|protein_coding|8/26|c.882+69T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3663;p3_1000G_AF=0.73143;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=15456;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20173255;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:226,21,0
chr2	19975551	rs34169020;333404	G	A	1920.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.67;SOR=1.146;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34169020;dbSNPBuildID=126;ANN=A|synonymous_variant|LOW|WDR35|WDR35|transcript|NM_001006657.1|protein_coding|6/28|c.549C>T|p.Tyr183Tyr|657/6946|549/3546|183/1181||,A|synonymous_variant|LOW|WDR35|WDR35|transcript|NM_020779.3|protein_coding|6/27|c.549C>T|p.Tyr183Tyr|657/6913|549/3513|183/1170||;p3_1000G_AA=A|||;p3_1000G_AC=319;p3_1000G_AF=0.0636981;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=18428;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20175312;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=152,4254;ESP6500_AA_AGE=810.0+/-416.0;ESP6500_AA_GTC=2,148,2053;ESP6500_CDS_SIZES=NM_020779.3:3513,NM_001006657.1:3546;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=88;ESP6500_EA_AC=270,8330;ESP6500_EA_AGE=805.4+/-407.3;ESP6500_EA_GTC=5,260,4035;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020779.3:coding-synonymous,NM_001006657.1:coding-synonymous;ESP6500_GL=WDR35;ESP6500_GRCh38_POSITION=2:19975551;ESP6500_GTC=7,408,6088;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020779.3:c.549C>T,NM_001006657.1:c.549C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020779.3:p.(Y183),NM_001006657.1:p.(Y183);ESP6500_MAF=3.1395,3.4498,3.2447;ESP6500_TAC=422,12584;CLINVAR_AF_ESP=0.0325;CLINVAR_AF_EXAC=0.04641;CLINVAR_AF_TGP=0.0637;CLINVAR_ALLELEID=286484;CLINVAR_CLNDISDB=MedGen:C0036996|MedGen:C3150874,OMIM:613610|MedGen:C3279792,OMIM:614091|MedGen:CN119432,Orphanet:ORPHA1515,SNOMED_CT:254093009;CLINVAR_CLNDN=Short_Rib_Polydactyly_Syndrome|Cranioectodermal_dysplasia_2|Short_rib_polydactyly_syndrome_5|Cranioectodermal_dysplasia;CLINVAR_CLNHGVS=NC_000002.12:g.19975551G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:82184;CLINVAR_GENEINFO=WDR35:57539;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34169020	GT:AD:DP:GQ:PL	1/1:0,67:67:99:1949,201,0
chr2	19989328	rs3731663;256876	C	T	1337.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=2.613;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731663;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|LOC101928222|LOC101928222|transcript|NR_110235.1|pseudogene||n.-876C>T|||||876|,T|downstream_gene_variant|MODIFIER|MATN3|MATN3|transcript|NM_002381.4|protein_coding||c.*3783G>A|||||2724|,T|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_001006657.1|protein_coding|1/27|c.25-46G>A||||||,T|intron_variant|MODIFIER|WDR35|WDR35|transcript|NM_020779.3|protein_coding|1/26|c.25-46G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3113;p3_1000G_AF=0.621605;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=19378;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20189089;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3116,1290;ESP6500_AA_AGE=431.2+/-342.8;ESP6500_AA_GTC=1123,870,210;ESP6500_CDS_SIZES=NM_020779.3:3513,NM_001006657.1:3546;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=51;ESP6500_EA_AC=4273,4327;ESP6500_EA_AGE=571.1+/-389.5;ESP6500_EA_GTC=1055,2163,1082;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020779.3:intron,NM_001006657.1:intron;ESP6500_GL=WDR35;ESP6500_GRCh38_POSITION=2:19989328;ESP6500_GTC=2178,3033,1292;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020779.3:c.25-46G>A,NM_001006657.1:c.25-46G>A;ESP6500_MAF=49.686,29.2783,43.1878;ESP6500_TAC=7389,5617;CLINVAR_ALLELEID=250473;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.19989328C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=WDR35:57539;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3731663	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1366,117,0
chr2	19993170	rs35973216;258647	G	A	1424.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.68;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35973216;dbSNPBuildID=126;ANN=A|splice_region_variant&intron_variant|LOW|MATN3|MATN3|transcript|NM_002381.4|protein_coding|7/7|c.1406-4C>T||||||,A|upstream_gene_variant|MODIFIER|WDR35|WDR35|transcript|NM_001006657.1|protein_coding||c.-3155C>T|||||3047|,A|upstream_gene_variant|MODIFIER|WDR35|WDR35|transcript|NM_020779.3|protein_coding||c.-3155C>T|||||3047|,A|intron_variant|MODIFIER|LOC101928222|LOC101928222|transcript|NR_110235.1|pseudogene|1/2|n.291+2676G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1141;p3_1000G_AF=0.227835;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=20167;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20192931;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=870,2776;ESP6500_AA_GTC=104,662,1057;ESP6500_CDS_SIZES=NM_002381.4:1461;ESP6500_CG=-0.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=89;ESP6500_EA_AC=2049,6125;ESP6500_EA_GTC=253,1543,2291;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002381.4:intron;ESP6500_GL=MATN3;ESP6500_GRCh38_POSITION=2:19993170;ESP6500_GTC=357,2205,3348;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002381.4:c.1406-4C>T;ESP6500_MAF=25.0673,23.8618,24.6954;ESP6500_TAC=2919,8901;CLINVAR_AF_ESP=0.2470;CLINVAR_AF_EXAC=0.24891;CLINVAR_AF_TGP=0.2278;CLINVAR_ALLELEID=250474;CLINVAR_CLNDISDB=MedGen:C0036996|MedGen:CN043640|MedGen:CN119432,Orphanet:ORPHA1515,SNOMED_CT:254093009|MedGen:CN169374;CLINVAR_CLNDN=Short_Rib_Polydactyly_Syndrome|Multiple_Epiphyseal_Dysplasia,_Dominant|Cranioectodermal_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.19993170G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24062;CLINVAR_GENEINFO=MATN3:4148|WDR35:57539|LOC101928222:101928222;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35973216	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1453,144,0
chr2	19994275	rs3820949;258646	G	C	1076.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.91;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820949;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|WDR35|WDR35|transcript|NM_001006657.1|protein_coding||c.-4260C>G|||||4152|,C|upstream_gene_variant|MODIFIER|WDR35|WDR35|transcript|NM_020779.3|protein_coding||c.-4260C>G|||||4152|,C|intron_variant|MODIFIER|LOC101928222|LOC101928222|transcript|NR_110235.1|pseudogene|1/2|n.291+3781G>C||||||,C|intron_variant|MODIFIER|MATN3|MATN3|transcript|NM_002381.4|protein_coding|7/7|c.1405+24C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2551;p3_1000G_AF=0.509385;p3_1000G_AFR_AF=0.4697;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=20052;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20194036;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1681,2173;ESP6500_AA_GTC=383,915,629;ESP6500_CDS_SIZES=NM_002381.4:1461;ESP6500_CG=-2.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=64;ESP6500_EA_AC=3415,4851;ESP6500_EA_GTC=706,2003,1424;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002381.4:intron;ESP6500_GL=MATN3;ESP6500_GRCh38_POSITION=2:19994275;ESP6500_GTC=1089,2918,2053;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002381.4:c.1405+24C>G;ESP6500_MAF=41.3138,43.617,42.0462;ESP6500_TAC=5096,7024;CLINVAR_AF_ESP=0.4205;CLINVAR_ALLELEID=250475;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.19994275G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MATN3:4148|LOC101928222:101928222;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3820949	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1105,108,0
chr2	20005662	rs5829721	A	AAAAG	179.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5829721;dbSNPBuildID=132;ANN=AAAAG|sequence_feature|LOW|MATN3|MATN3|domain:EGF-like_1|NM_002381.4|protein_coding|2/7|c.790+81_790+82insCTTT||||||,AAAAG|downstream_gene_variant|MODIFIER|LOC101928222|LOC101928222|transcript|NR_110235.1|pseudogene||n.*856_*857insAAAG|||||857|,AAAAG|intron_variant|MODIFIER|MATN3|MATN3|transcript|NM_002381.4|protein_coding|2/7|c.790+81_790+82insCTTT||||||;p3_1000G_AC=2855;p3_1000G_AF=0.570088;p3_1000G_AFR_AF=0.6944;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=19790;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.4036;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20205423;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:15:217,15,0
chr2	20005919	rs28401180;195170	C	T	2098.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28401180;dbSNPBuildID=125;ANN=T|synonymous_variant|LOW|MATN3|MATN3|transcript|NM_002381.4|protein_coding|2/8|c.615G>A|p.Glu205Glu|678/2583|615/1461|205/486||,T|downstream_gene_variant|MODIFIER|LOC101928222|LOC101928222|transcript|NR_110235.1|pseudogene||n.*1113C>T|||||1113|;p3_1000G_AA=C|||;p3_1000G_AC=2626;p3_1000G_AF=0.524361;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=17859;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.4026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20205680;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1964,2134;ESP6500_AA_GTC=494,976,579;ESP6500_CDS_SIZES=NM_002381.4:1461;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=23;ESP6500_EA_AC=3408,4988;ESP6500_EA_GTC=716,1976,1506;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002381.4:coding-synonymous;ESP6500_GL=MATN3;ESP6500_GRCh38_POSITION=2:20005919;ESP6500_GTC=1210,2952,2085;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002381.4:c.615G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002381.4:p.(E205);ESP6500_MAF=40.5908,47.9258,42.9966;ESP6500_TAC=5372,7122;CLINVAR_AF_ESP=0.4300;CLINVAR_AF_EXAC=0.48371;CLINVAR_ALLELEID=192331;CLINVAR_CLNDISDB=MedGen:CN043640|MedGen:CN169374;CLINVAR_CLNDN=Multiple_Epiphyseal_Dysplasia,_Dominant|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.20005919C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24087;CLINVAR_GENEINFO=MATN3:4148;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28401180	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2127,186,0
chr2	20006087	rs28598872;195169	G	A	3725.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.79;SOR=0.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28598872;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|MATN3|MATN3|transcript|NM_002381.4|protein_coding|2/8|c.447C>T|p.Ala149Ala|510/2583|447/1461|149/486||,A|downstream_gene_variant|MODIFIER|LOC101928222|LOC101928222|transcript|NR_110235.1|pseudogene||n.*1281G>A|||||1281|;p3_1000G_AA=A|||;p3_1000G_AC=2628;p3_1000G_AF=0.52476;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=19853;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20205848;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2056,2156;ESP6500_AA_GTC=528,1000,578;ESP6500_CDS_SIZES=NM_002381.4:1461;ESP6500_CG=-11.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=69;ESP6500_EA_AC=3481,4981;ESP6500_EA_GTC=723,2035,1473;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002381.4:coding-synonymous;ESP6500_GL=MATN3;ESP6500_GRCh38_POSITION=2:20006087;ESP6500_GTC=1251,3035,2051;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002381.4:c.447C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002381.4:p.(A149);ESP6500_MAF=41.1368,48.8129,43.6879;ESP6500_TAC=5537,7137;CLINVAR_AF_ESP=0.4369;CLINVAR_AF_EXAC=0.47539;CLINVAR_ALLELEID=192330;CLINVAR_CLNDISDB=MedGen:CN043640|MedGen:CN169374;CLINVAR_CLNDN=Multiple_Epiphyseal_Dysplasia,_Dominant|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.20006087G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24092;CLINVAR_GENEINFO=MATN3:4148;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28598872	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3754,363,0
chr2	20037751	rs536856991;rs57679180;rs796117502	TA	T	10.15	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=5.07;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57679180;dbSNPBuildID=137,142,146;ANN=T|intron_variant|MODIFIER|LAPTM4A|LAPTM4A|transcript|NM_014713.4|protein_coding|2/6|c.233-138delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2111;p3_1000G_AF=0.421526;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=17170;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.3728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20237512;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:46,6,0
chr2	20202097	rs11350492;rs35435555	TA	T	27.25	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.45;ReadPosRankSum=-0.524;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11350492,rs35435555;dbSNPBuildID=142,126;ANN=T|3_prime_UTR_variant|MODIFIER|SDC1|SDC1|transcript|NM_001006946.1|protein_coding|6/6|c.*668delT|||||668|,T|3_prime_UTR_variant|MODIFIER|SDC1|SDC1|transcript|NM_002997.4|protein_coding|5/5|c.*668delT|||||668|;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2369;p3_1000G_AF=0.473043;p3_1000G_AFR_AF=0.4085;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=17303;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.4761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20401858;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,4:5:9:64,0,9
chr2	20204033	rs10205485	A	T	1130.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=0.752;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10205485;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|SDC1|SDC1|transcript|NM_001006946.1|protein_coding|4/6|c.407T>A|p.Leu136Gln|798/3293|407/933|136/310||,T|missense_variant|MODERATE|SDC1|SDC1|transcript|NM_002997.4|protein_coding|3/5|c.407T>A|p.Leu136Gln|706/3201|407/933|136/310||;p3_1000G_AA=T|||;p3_1000G_AC=4842;p3_1000G_AF=0.966853;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=13613;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20403794;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3947,459;ESP6500_AA_AGE=220.4+/-237.8;ESP6500_AA_GTC=1769,409,25;ESP6500_CDS_SIZES=NM_002997.4:933,NM_001006946.1:933;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=87;ESP6500_EA_AC=8596,2;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4297,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002997.4:missense,NM_001006946.1:missense;ESP6500_GL=SDC1;ESP6500_GRCh38_POSITION=2:20204033;ESP6500_GS=113,113;ESP6500_GTC=6066,411,25;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002997.4:c.407T>A,NM_001006946.1:c.407T>A;ESP6500_HGVS_PROTEIN_VAR=NM_002997.4:p.(L136Q),NM_001006946.1:p.(L136Q);ESP6500_MAF=0.0233,10.4176,3.5451;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12543,461	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1159,99,0
chr2	20205243	rs3732166	C	T	425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3732166;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SDC1|SDC1|transcript|NM_001006946.1|protein_coding|3/5|c.148+100G>A||||||,T|intron_variant|MODIFIER|SDC1|SDC1|transcript|NM_002997.4|protein_coding|2/4|c.148+100G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1506;p3_1000G_AF=0.300719;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=16778;p3_1000G_EAS_AF=0.2153;p3_1000G_EUR_AF=0.335;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20405004;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:454,36,0
chr2	20205289	rs6531225	A	C	969.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6531225;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SDC1|SDC1|transcript|NM_001006946.1|protein_coding|3/5|c.148+54T>G||||||,C|intron_variant|MODIFIER|SDC1|SDC1|transcript|NM_002997.4|protein_coding|2/4|c.148+54T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4933;p3_1000G_AF=0.985024;p3_1000G_AFR_AF=0.9448;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16901;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20405050;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1319,65;ESP6500_AA_GTC=628,63,1;ESP6500_CDS_SIZES=NM_002997.4:933,NM_001006946.1:933;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=20;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002997.4:intron,NM_001006946.1:intron;ESP6500_GL=SDC1;ESP6500_GRCh38_POSITION=2:20205289;ESP6500_GTC=2219,63,1;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002997.4:c.148+54T>G,NM_001006946.1:c.148+54T>G;ESP6500_MAF=0.0,4.6965,1.4236;ESP6500_TAC=4501,65	GT:AD:DP:GQ:PL	1/1:0,26:26:78:998,78,0
chr2	20223393	rs4666375	A	G	470.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666375;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|SDC1|SDC1|transcript|NM_001006946.1|protein_coding|2/5|c.66+1409T>C||||||,G|intron_variant|MODIFIER|SDC1|SDC1|transcript|NM_002997.4|protein_coding|1/4|c.66+1409T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=11783;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20423154;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:499,39,0
chr2	20224301	rs138986173	G	A	99.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs138986173;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|SDC1|SDC1|transcript|NM_001006946.1|protein_coding|2/5|c.66+501C>T||||||,A|intron_variant|MODIFIER|SDC1|SDC1|transcript|NM_002997.4|protein_coding|1/4|c.66+501C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1219;p3_1000G_AF=0.243411;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=5937;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.3757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20424062;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:127,12,0
chr2	20529383	rs367772503;rs56047670;rs72362297	C	CT	600.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.04;SOR=0.963;INS;HET;VARTYPE=INS;dbSNP138_ID=rs72362297,rs56047670;dbSNPBuildID=138,137,129;ANN=CT|intergenic_region|MODIFIER|RHOB-HS1BP3-IT1|RHOB-HS1BP3-IT1|intergenic_region|RHOB-HS1BP3-IT1|||n.20529383_20529384insT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3410;p3_1000G_AF=0.680911;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=18212;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20729143;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7597;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:0,7:7:99:638,354,289
chr2	20529383	rs367772503;rs56047670;rs72362297	C	CTT	600.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.04;SOR=0.963;INS;HET;VARTYPE=INS;dbSNP138_ID=rs72362297,rs56047670;dbSNPBuildID=138,137,129;ANN=CTT|intergenic_region|MODIFIER|RHOB-HS1BP3-IT1|RHOB-HS1BP3-IT1|intergenic_region|RHOB-HS1BP3-IT1|||n.20529383_20529384insTT||||||	GT:AD:DP:GQ:PL	0/1:0,13:13:99:638,163,111
chr2	20560391	rs6531244	A	G	688.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6531244;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|RHOB-HS1BP3-IT1|RHOB-HS1BP3-IT1|intergenic_region|RHOB-HS1BP3-IT1|||n.20560391A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4956;p3_1000G_AF=0.989617;p3_1000G_AFR_AF=0.9637;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20079;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20760151;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:717,60,0
chr2	20560656	rs4666423	A	G	309.56	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.14;ReadPosRankSum=-0.402;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4666423;dbSNPBuildID=111;ANN=G|intergenic_region|MODIFIER|RHOB-HS1BP3-IT1|RHOB-HS1BP3-IT1|intergenic_region|RHOB-HS1BP3-IT1|||n.20560656A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3422;p3_1000G_AF=0.683307;p3_1000G_AFR_AF=0.4062;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=21323;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.8688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20760416;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,10:11:7:337,0,7
chr2	20622458	rs4666444	T	C	86.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666444;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|6/6|c.920+1438A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16382;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20822218;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:114,9,0
chr2	20623852	rs13030108	A	G	475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13030108;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|6/6|c.920+44T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3977;p3_1000G_AF=0.794129;p3_1000G_AFR_AF=0.68;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=14070;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.7853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20823612;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2914,1468;ESP6500_AA_GTC=970,974,247;ESP6500_CDS_SIZES=NM_022460.3:1179;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=16;ESP6500_EA_AC=6778,1818;ESP6500_EA_GTC=2681,1416,201;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022460.3:intron;ESP6500_GL=HS1BP3;ESP6500_GRCh38_POSITION=2:20623852;ESP6500_GTC=3651,2390,448;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022460.3:c.920+44T>C;ESP6500_MAF=21.1494,33.5007,25.3198;ESP6500_TAC=9692,3286	GT:AD:DP:GQ:PL	1/1:0,16:16:48:504,48,0
chr2	20623964	rs6531248	T	C	741.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6531248;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|6/7|c.852A>G|p.Pro284Pro|893/2403|852/1179|284/392||;p3_1000G_AA=t|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15091;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20823724;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4316,90;ESP6500_AA_AGE=71.4+/-109.4;ESP6500_AA_GTC=2113,90,0;ESP6500_CDS_SIZES=NM_022460.3:1179;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=32;ESP6500_EA_AC=8599,1;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022460.3:coding-synonymous;ESP6500_GL=HS1BP3;ESP6500_GRCh38_POSITION=2:20623964;ESP6500_GTC=6412,91,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022460.3:c.852A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022460.3:p.(P284);ESP6500_MAF=0.0116,2.0427,0.6997;ESP6500_TAC=12915,91	GT:AD:DP:GQ:PL	1/1:0,23:23:69:770,69,0
chr2	20624056	rs2305460	G	T	903.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.58;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305460;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|5/6|c.785-25C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2346;p3_1000G_AF=0.46845;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17333;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.3469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20823816;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1189,3215;ESP6500_AA_GTC=215,759,1228;ESP6500_CDS_SIZES=NM_022460.3:1179;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=26;ESP6500_EA_AC=3226,5372;ESP6500_EA_GTC=712,1802,1785;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022460.3:intron;ESP6500_GL=HS1BP3;ESP6500_GRCh38_POSITION=2:20624056;ESP6500_GTC=927,2561,3013;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_022460.3:c.785-25C>A;ESP6500_MAF=37.5204,26.9982,33.9563;ESP6500_TAC=4415,8587	GT:AD:DP:GQ:PL	1/1:0,34:34:99:932,102,0
chr2	20624090	rs6733419	T	C	879.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6733419;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|5/6|c.785-59A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17554;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20823850;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:908,93,0
chr2	20624799	rs2305457	C	T	437.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.123;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.955;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.207;SOR=0.324;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305457;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|5/7|c.717G>A|p.Glu239Glu|758/2403|717/1179|239/392||;p3_1000G_AA=C|||;p3_1000G_AC=1380;p3_1000G_AF=0.275559;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=18239;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.2614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20824559;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=325,4081;ESP6500_AA_AGE=170.1+/-200.6;ESP6500_AA_GTC=9,307,1887;ESP6500_CDS_SIZES=NM_022460.3:1179;ESP6500_CG=0.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=2227,6373;ESP6500_EA_AGE=378.2+/-338.8;ESP6500_EA_GTC=303,1621,2376;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022460.3:coding-synonymous;ESP6500_GL=HS1BP3;ESP6500_GRCh38_POSITION=2:20624799;ESP6500_GTC=312,1928,4263;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022460.3:c.717G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022460.3:p.(E239);ESP6500_MAF=25.8953,7.3763,19.6217;ESP6500_TAC=2552,10454	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,20:38:99:1|0:20624797_C_A:466,0,543
chr2	20624898	rs10199441	G	A	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.12;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10199441;dbSNPBuildID=119;ANN=A|splice_region_variant&intron_variant|LOW|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|4/6|c.624-6C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2124;p3_1000G_AF=0.424121;p3_1000G_AFR_AF=0.3548;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=19252;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.2873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20824658;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1502,2904;ESP6500_AA_AGE=464.0+/-353.7;ESP6500_AA_GTC=259,984,960;ESP6500_CDS_SIZES=NM_022460.3:1179;ESP6500_CG=0.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=77;ESP6500_EA_AC=2420,6180;ESP6500_EA_AGE=387.3+/-342.2;ESP6500_EA_GTC=358,1704,2238;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022460.3:intron;ESP6500_GL=HS1BP3;ESP6500_GRCh38_POSITION=2:20624898;ESP6500_GTC=617,2688,3198;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022460.3:c.624-6C>T;ESP6500_MAF=28.1395,34.0899,30.1553;ESP6500_TAC=3922,9084	GT:AD:DP:GQ:PL	0/1:4,6:10:99:167,0,141
chr2	20624948	rs10191266	T	C	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=0.792;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10191266;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|4/6|c.624-56A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2372;p3_1000G_AF=0.473642;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=18309;p3_1000G_EAS_AF=0.6022;p3_1000G_EUR_AF=0.3549;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20824708;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:68:149,0,68
chr2	20638558	rs3796064	G	A	948.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.15;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.248;SOR=0.615;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796064;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|4/7|c.501C>T|p.Phe167Phe|542/2403|501/1179|167/392||;p3_1000G_AA=G|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=19367;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.2763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20838318;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=985,3421;ESP6500_AA_AGE=367.3+/-318.2;ESP6500_AA_GTC=117,751,1335;ESP6500_CDS_SIZES=NM_022460.3:1179;ESP6500_CG=-8.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=146;ESP6500_EA_AC=2254,6346;ESP6500_EA_AGE=381.0+/-339.9;ESP6500_EA_GTC=298,1658,2344;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022460.3:coding-synonymous;ESP6500_GL=HS1BP3;ESP6500_GRCh38_POSITION=2:20638558;ESP6500_GTC=415,2409,3679;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022460.3:c.501C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022460.3:p.(F167);ESP6500_MAF=26.2093,22.3559,24.9039;ESP6500_TAC=3239,9767	GT:AD:DP:GQ:PL	0/1:45,41:86:99:977,0,980
chr2	20641299	rs4666449	C	T	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.841;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-0.166;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4666449;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|HS1BP3|HS1BP3|transcript|NM_022460.3|protein_coding|2/6|c.199-119G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2664;p3_1000G_AF=0.531949;p3_1000G_AFR_AF=0.5946;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=17339;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20841059;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,5:16:99:150,0,350
chr2	20670819	rs13013489	G	A	814.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13013489;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|GDF7|GDF7|transcript|NM_182828.3|protein_coding|2/2|c.747G>A|p.Arg249Arg|1323/9745|747/1353|249/450||;p3_1000G_AA=G|||;p3_1000G_AC=4045;p3_1000G_AF=0.807708;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=8964;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.6859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20870579;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1756,194;ESP6500_AA_GTC=786,184,5;ESP6500_CDS_SIZES=NM_182828.2:1353;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=1;ESP6500_EA_AC=3668,728;ESP6500_EA_GTC=1521,626,51;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182828.2:coding-synonymous;ESP6500_GL=GDF7;ESP6500_GRCh38_POSITION=2:20670819;ESP6500_GTC=2307,810,56;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182828.2:c.747G>A;ESP6500_HGVS_PROTEIN_VAR=NM_182828.2:p.(R249);ESP6500_MAF=16.5605,9.9487,14.5288;ESP6500_TAC=5424,922	GT:AD:DP:GQ:PL	1/1:0,28:28:84:843,84,0
chr2	20671430	rs4666457	A	C	899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=2.753;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666457;dbSNPBuildID=111;ANN=C|3_prime_UTR_variant|MODIFIER|GDF7|GDF7|transcript|NM_182828.3|protein_coding|2/2|c.*5A>C|||||5|;p3_1000G_AA=C|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=12875;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20871190;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4288,40;ESP6500_AA_GTC=2124,40,0;ESP6500_CDS_SIZES=NM_182828.2:1353;ESP6500_CG=3.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=10;ESP6500_EA_AC=8466,0;ESP6500_EA_GTC=4233,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182828.2:utr-3;ESP6500_GL=GDF7;ESP6500_GRCh38_POSITION=2:20671430;ESP6500_GTC=6357,40,0;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_182828.2:c.*5A>C;ESP6500_MAF=0.0,0.9242,0.3126;ESP6500_TAC=12754,40	GT:AD:DP:GQ:PL	1/1:0,27:27:81:928,81,0
chr2	21002409	rs1042034;128418	C	T	1549.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1042034;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|APOB|APOB|transcript|NM_000384.2|protein_coding|29/29|c.13013G>A|p.Ser4338Asn|13141/14121|13013/13692|4338/4563||;p3_1000G_AA=T|||;p3_1000G_AC=3153;p3_1000G_AF=0.629593;p3_1000G_AFR_AF=0.8759;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=19325;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.7823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21225281;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3708,690;ESP6500_AA_AGE=257.0+/-261.6;ESP6500_AA_GTC=1562,584,53;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20686565;ESP6500_CDS_SIZES=NM_000384.2:13692;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=30;ESP6500_EA_AC=6721,1869;ESP6500_EA_AGE=317.6+/-313.3;ESP6500_EA_GTC=2655,1411,229;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000384.2:missense;ESP6500_GL=APOB;ESP6500_GRCh38_POSITION=2:21002409;ESP6500_GS=46;ESP6500_GTC=4217,1995,282;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20686565;ESP6500_HGVS_CDNA_VAR=NM_000384.2:c.13013G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000384.2:p.(S4338N);ESP6500_MAF=21.7579,15.6889,19.7028;ESP6500_PH=benign:0.0;ESP6500_TAC=10429,2559;CLINVAR_ALLELEID=133867;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.21002409C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24047|Laboratory_of_Genetics_and_Molecular_Cardiology,University_of_São_Paulo:APOB_090;CLINVAR_GENEINFO=APOB:338;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1042034	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1578,141,0
chr2	21009931	rs584542	T	C	9129.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=282;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs584542;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|APOB|APOB|transcript|NM_000384.2|protein_coding|26/29|c.6937A>G|p.Ile2313Val|7065/14121|6937/13692|2313/4563||;p3_1000G_AA=C|||;p3_1000G_AC=4939;p3_1000G_AF=0.986222;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20093;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21232803;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4172,234;ESP6500_AA_AGE=136.5+/-172.5;ESP6500_AA_GTC=1975,222,6;ESP6500_CDS_SIZES=NM_000384.2:13692;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=118;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000384.2:missense;ESP6500_GL=APOB;ESP6500_GRCh38_POSITION=2:21009931;ESP6500_GS=29;ESP6500_GTC=6270,227,6;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000384.2:c.6937A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000384.2:p.(I2313V);ESP6500_MAF=0.0581,5.3109,1.8376;ESP6500_PH=benign:0.002;ESP6500_TAC=12767,239	GT:AD:DP:GQ:PL	1/1:0,278:278:99:9158,835,0
chr2	21013610	rs488329	A	G	558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs488329;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|APOB|APOB|transcript|NM_000384.2|protein_coding|24/28|c.3843-77T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4963;p3_1000G_AF=0.991014;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19037;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21236482;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:587,54,0
chr2	21028042	rs679899;128420	G	A	3500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=113;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=1.568;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs679899;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|APOB|APOB|transcript|NM_000384.2|protein_coding|14/29|c.1853C>T|p.Ala618Val|1981/14121|1853/13692|618/4563||;p3_1000G_AA=G|||;p3_1000G_AC=2429;p3_1000G_AF=0.485024;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=19326;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.4742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21250914;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=779,3627;ESP6500_AA_AGE=312.7+/-292.7;ESP6500_AA_GTC=65,649,1489;ESP6500_CDS_SIZES=NM_000384.2:13692;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=115;ESP6500_EA_AC=3975,4625;ESP6500_EA_AGE=550.9+/-385.8;ESP6500_EA_GTC=925,2125,1250;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000384.2:missense;ESP6500_GL=APOB;ESP6500_GRCh38_POSITION=2:21028042;ESP6500_GS=64;ESP6500_GTC=990,2774,2739;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000384.2:c.1853C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000384.2:p.(A618V);ESP6500_MAF=46.2209,17.6804,36.5524;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=4754,8252;CLINVAR_AF_ESP=0.3655;CLINVAR_AF_EXAC=0.48570;CLINVAR_AF_TGP=0.4850;CLINVAR_ALLELEID=133869;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:CN169374;CLINVAR_CLNDN=Familial_hypercholesterolemia|Familial_hypobetalipoproteinemia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.21028042G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24100|Laboratory_of_Genetics_and_Molecular_Cardiology,University_of_São_Paulo:APOB_012;CLINVAR_GENEINFO=APOB:338;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=679899	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3529,339,0
chr2	21028168	rs570877	T	G	1123.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.08;SOR=3.334;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs570877;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|APOB|APOB|transcript|NM_000384.2|protein_coding|13/28|c.1830-103A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4377;p3_1000G_AF=0.874002;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=20064;p3_1000G_EAS_AF=0.9623;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21251040;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1152,87,0
chr2	21029662	rs13306194;255979	G	A	1417.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=0.735;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13306194;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|APOB|APOB|transcript|NM_000384.2|protein_coding|12/29|c.1594C>T|p.Arg532Trp|1722/14121|1594/13692|532/4563||;p3_1000G_AA=G|||;p3_1000G_AC=137;p3_1000G_AF=0.0273562;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20876;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21252534;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_000384.2:13692;ESP6500_CG=-3.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=184;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000384.2:missense;ESP6500_GL=APOB;ESP6500_GRCh38_POSITION=2:21029662;ESP6500_GS=101;ESP6500_GTC=0,3,6500;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000384.2:c.1594C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000384.2:p.(R532W);ESP6500_MAF=0.0233,0.0227,0.0231;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=3,13003;CLINVAR_AF_ESP=0.0002;CLINVAR_AF_EXAC=0.01138;CLINVAR_AF_TGP=0.0274;CLINVAR_ALLELEID=250533;CLINVAR_CLNDISDB=MedGen:C0020445,OMIM:143890,SNOMED_CT:397915002,SNOMED_CT:398036000|MedGen:C1704417,OMIM:144010|MedGen:C1862596,Orphanet:ORPHA426,SNOMED_CT:60193003|MedGen:CN169374|MedGen:CN182502,OMIM:615558;CLINVAR_CLNDN=Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia|not_specified|Hypobetalipoproteinemia,_familial,_1;CLINVAR_CLNHGVS=NC_000002.12:g.21029662G>A;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(3),Likely_benign(4),Uncertain_significance(1);CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:81342|Laboratory_of_Genetics_and_Molecular_Cardiology,University_of_São_Paulo:APOB_135;CLINVAR_GENEINFO=APOB:338;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13306194	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1446,141,0
chr2	21042269	rs661665	C	A	371.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.42;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs661665;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|APOB|APOB|transcript|NM_000384.2|protein_coding|3/28|c.237+92G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2821;p3_1000G_AF=0.563299;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=17634;p3_1000G_EAS_AF=0.879;p3_1000G_EUR_AF=0.492;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21265141;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:400,30,0
chr2	21137711	rs312966	A	G	1699.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.33;SOR=0.732;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs312966;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|TDRD15|TDRD15|transcript|NM_001306137.1|protein_coding|4/4|c.244A>G|p.Met82Val|505/7160|244/5805|82/1934||;p3_1000G_AA=G|||;p3_1000G_AC=2581;p3_1000G_AF=0.515375;p3_1000G_AFR_AF=0.4047;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=17902;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.3668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21360583;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1728,153,0
chr2	23642215	rs4665623	T	C	866.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665623;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|KLHL29|KLHL29|transcript|NM_052920.1|protein_coding|4/13|c.428-123T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=922;p3_1000G_AF=0.184105;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19997;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23865085;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:895,66,0
chr2	23642239	rs3806508	C	A	923.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=1.839;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3806508;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|KLHL29|KLHL29|transcript|NM_052920.1|protein_coding|4/13|c.428-99C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=928;p3_1000G_AF=0.185304;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=20686;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23865109;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:952,93,0
chr2	23642269	rs3806509	C	T	1212.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3806509;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|KLHL29|KLHL29|transcript|NM_052920.1|protein_coding|4/13|c.428-69C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=20683;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23865139;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1241,123,0
chr2	23642306	rs3806510	G	A	1522.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=1.094;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3806510;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|KLHL29|KLHL29|transcript|NM_052920.1|protein_coding|4/13|c.428-32G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=904;p3_1000G_AF=0.180511;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19732;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.0427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23865176;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=26,1358;ESP6500_AA_GTC=0,26,666;ESP6500_CDS_SIZES=NM_052920.1:2628;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=15;ESP6500_EA_AC=196,2986;ESP6500_EA_GTC=3,190,1398;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052920.1:intron;ESP6500_GL=KLHL29;ESP6500_GRCh38_POSITION=2:23642306;ESP6500_GTC=3,216,2064;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052920.1:c.428-32G>A;ESP6500_MAF=6.1596,1.8786,4.862;ESP6500_TAC=222,4344	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1551,153,0
chr2	23642390	rs642931	T	C	1443.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs642931;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|KLHL29|KLHL29|transcript|NM_052920.1|protein_coding|5/14|c.480T>C|p.Ile160Ile|987/5084|480/2628|160/875||;p3_1000G_AA=C|||;p3_1000G_AC=4388;p3_1000G_AF=0.876198;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=17714;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23865260;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1164,220;ESP6500_AA_GTC=497,170,25;ESP6500_CDS_SIZES=NM_052920.1:2628;ESP6500_CG=-0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=29;ESP6500_EA_AC=2382,800;ESP6500_EA_GTC=881,620,90;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052920.1:coding-synonymous;ESP6500_GL=KLHL29;ESP6500_GRCh38_POSITION=2:23642390;ESP6500_GTC=1378,790,115;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052920.1:c.480T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052920.1:p.(I160);ESP6500_MAF=25.1414,15.896,22.339;ESP6500_TAC=3546,1020	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1472,135,0
chr2	23684662	rs533206031;rs573120535;rs66787697;rs767440409	TCTC	T	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66787697;dbSNPBuildID=134,144,142,142;ANN=T|intron_variant|MODIFIER|KLHL29|KLHL29|transcript|NM_052920.1|protein_coding|6/13|c.1079+148_1079+150delTCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4117;p3_1000G_AF=0.822085;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=16982;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23907532;p3_1000G_GRCH37_REF=TCTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:270,18,0
chr2	23696505	rs3795942	C	T	1191.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=2.362;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795942;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|KLHL29|KLHL29|transcript|NM_052920.1|protein_coding|11/14|c.2097C>T|p.His699His|2604/5084|2097/2628|699/875||;p3_1000G_AA=C|||;p3_1000G_AC=2882;p3_1000G_AF=0.575479;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=20620;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.5447;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23919375;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5828;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=510,874;ESP6500_AA_GTC=97,316,279;ESP6500_CDS_SIZES=NM_052920.1:2628;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=55;ESP6500_EA_AC=1796,1386;ESP6500_EA_GTC=524,748,319;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052920.1:coding-synonymous;ESP6500_GL=KLHL29;ESP6500_GRCh38_POSITION=2:23696505;ESP6500_GTC=621,1064,598;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052920.1:c.2097C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052920.1:p.(H699);ESP6500_MAF=43.5575,36.8497,49.4963;ESP6500_TAC=2306,2260	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1220,117,0
chr2	23703789	rs3795948	T	C	2207.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795948;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|KLHL29|KLHL29|transcript|NM_052920.1|protein_coding|13/14|c.2370T>C|p.Ala790Ala|2877/5084|2370/2628|790/875||;p3_1000G_AA=C|||;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=18873;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.4642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23926659;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=528,856;ESP6500_AA_GTC=103,322,267;ESP6500_CDS_SIZES=NM_052920.1:2628;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=139;ESP6500_EA_AC=1581,1601;ESP6500_EA_GTC=407,767,417;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052920.1:coding-synonymous;ESP6500_GL=KLHL29;ESP6500_GRCh38_POSITION=2:23703789;ESP6500_GTC=510,1089,684;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052920.1:c.2370T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052920.1:p.(A790);ESP6500_MAF=49.6857,38.1503,46.1892;ESP6500_TAC=2109,2457	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2236,201,0
chr2	23819680	rs2879639	C	T	179.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2879639;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NM_017552.3|protein_coding|17/27|c.2267+67G>A||||||,T|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NM_001242338.2|protein_coding|17/27|c.2267+67G>A||||||,T|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NR_125717.1|pseudogene|17/28|n.2611+67G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4824;p3_1000G_AF=0.963259;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.9553;p3_1000G_AN=5008;p3_1000G_DP=16491;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24042550;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:208,18,0
chr2	23832188	rs10432637	G	C	1604.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=0.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10432637;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NM_017552.3|protein_coding|14/27|c.1728+1731C>G||||||,C|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NM_001242338.2|protein_coding|14/27|c.1728+1731C>G||||||,C|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NR_125717.1|pseudogene|14/28|n.2072+1731C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4667;p3_1000G_AF=0.931909;p3_1000G_AFR_AF=0.8502;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=20355;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24055058;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1633,153,0
chr2	23887741	rs17762465	G	C	277.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17762465;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NM_017552.3|protein_coding|4/27|c.572+91C>G||||||,C|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NM_001242338.2|protein_coding|4/27|c.572+91C>G||||||,C|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NR_125717.1|pseudogene|4/28|n.916+91C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2580;p3_1000G_AF=0.515176;p3_1000G_AFR_AF=0.3124;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=18984;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.4284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24110611;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5204;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:306,24,0
chr2	23888041	rs34093830;rs397869189	G	GA	76.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34093830;dbSNPBuildID=137,138;ANN=GA|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NM_017552.3|protein_coding|3/27|c.419-57dupT||||||,GA|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NM_001242338.2|protein_coding|3/27|c.419-57dupT||||||,GA|intron_variant|MODIFIER|ATAD2B|ATAD2B|transcript|NR_125717.1|pseudogene|3/28|n.763-57dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2534;p3_1000G_AF=0.50599;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=14864;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.4205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24110911;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:113,12,0
chr2	23971444	rs1533440	C	T	819.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.28;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1533440;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|UBXN2A|UBXN2A|transcript|NM_181713.3|protein_coding|3/6|c.180+30C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2886;p3_1000G_AF=0.576278;p3_1000G_AFR_AF=0.3283;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=19647;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.5537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24194314;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1572,2834;ESP6500_AA_GTC=288,996,919;ESP6500_CDS_SIZES=NM_181713.3:780;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=56;ESP6500_EA_AC=4821,3777;ESP6500_EA_GTC=1394,2033,872;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181713.3:intron;ESP6500_GL=UBXN2A;ESP6500_GRCh38_POSITION=2:23971444;ESP6500_GTC=1682,3029,1791;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181713.3:c.180+30C>T;ESP6500_MAF=43.9288,35.6786,49.1618;ESP6500_TAC=6393,6611	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:84:1|1:23971444_C_T:848,84,0
chr2	24023305	rs12989842	C	T	1181.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12989842;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|MFSD2B|MFSD2B|transcript|NM_001080473.1|protein_coding|11/12|c.1169+66C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3871;p3_1000G_AF=0.772963;p3_1000G_AFR_AF=0.593;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=14963;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24246175;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1210,114,0
chr2	24023809	rs925228	A	G	871.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs925228;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|MFSD2B|MFSD2B|transcript|NM_001080473.1|protein_coding|12/12|c.1313+83A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3935;p3_1000G_AF=0.785743;p3_1000G_AFR_AF=0.6339;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=18278;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.7734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24246679;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:900,72,0
chr2	24032992	rs10179142	C	G	452.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.83;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10179142;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|WDCP|WDCP|transcript|NM_025203.2|protein_coding|2/3|c.1819-46G>C||||||,G|intron_variant|MODIFIER|WDCP|WDCP|transcript|NM_001142319.1|protein_coding|2/2|c.1819-1830G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19004;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24255862;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4394,12;ESP6500_AA_AGE=19.1+/-41.9;ESP6500_AA_GTC=2191,12,0;ESP6500_CDS_SIZES=NM_025203.2:2166,NM_001142319.1:1869;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=34;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025203.2:intron,NM_001142319.1:intron;ESP6500_GL=C2orf44;ESP6500_GRCh38_POSITION=2:24032992;ESP6500_GTC=6491,12,0;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_025203.2:c.1819-46G>C,NM_001142319.1:c.1819-1830G>C;ESP6500_MAF=0.0,0.2724,0.0923;ESP6500_TAC=12994,12	GT:AD:DP:GQ:PL	1/1:0,13:13:39:481,39,0
chr2	24146804	rs11693860	C	T	1487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.07;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11693860;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|FAM228B|FAM228B|transcript|NM_001145710.1|protein_coding|6/11|c.498C>T|p.Asn166Asn|584/1358|498/975|166/324||,T|synonymous_variant|LOW|FAM228B|FAM228B|transcript|NM_001291328.1|protein_coding|6/11|c.87C>T|p.Asn29Asn|472/1246|87/564|29/187||,T|intron_variant|MODIFIER|FAM228B|FAM228B|transcript|NR_111929.1|pseudogene|4/5|n.331+11617C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4237;p3_1000G_AF=0.846046;p3_1000G_AFR_AF=0.5923;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=18737;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.9384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24369674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1516,159,0
chr2	24161554	rs4665667	T	C	1572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.036;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665667;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|FAM228B|FAM228B|transcript|NM_001145710.1|protein_coding|8/11|c.735T>C|p.Pro245Pro|821/1358|735/975|245/324||,C|synonymous_variant|LOW|FAM228B|FAM228B|transcript|NM_001291328.1|protein_coding|8/11|c.324T>C|p.Pro108Pro|709/1246|324/564|108/187||,C|intron_variant|MODIFIER|FAM228B|FAM228B|transcript|NR_111929.1|pseudogene|4/5|n.332-2644T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4076;p3_1000G_AF=0.813898;p3_1000G_AFR_AF=0.5386;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=21847;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24384424;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=789,595;ESP6500_AA_GTC=231,327,134;ESP6500_CDS_SIZES=NM_001145710.1:974;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=129;ESP6500_EA_AC=2962,220;ESP6500_EA_GTC=1377,208,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145710.1:coding-synonymous;ESP6500_GL=FAM228B;ESP6500_GRCh38_POSITION=2:24161554;ESP6500_GTC=1608,535,140;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001145710.1:c.735T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001145710.1:p.(P245);ESP6500_MAF=6.9139,42.9913,17.8493;ESP6500_TAC=3751,815	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1601,156,0
chr2	24165227	rs4665668	G	A	463.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.92;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665668;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|FAM228B|FAM228B|transcript|NM_001145710.1|protein_coding|9/10|c.932+892G>A||||||,A|intron_variant|MODIFIER|FAM228B|FAM228B|transcript|NM_001291328.1|protein_coding|9/10|c.521+892G>A||||||,A|intron_variant|MODIFIER|FAM228B|FAM228B|transcript|NR_111929.1|pseudogene|5/5|n.469+892G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4075;p3_1000G_AF=0.813698;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=19146;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24388096;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:492,45,0
chr2	24167648	rs2288072	G	A	417.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288072;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|FAM228B|FAM228B|transcript|NM_001145710.1|protein_coding|10/11|c.954G>A|p.Gly318Gly|1040/1358|954/975|318/324||,A|synonymous_variant|LOW|FAM228B|FAM228B|transcript|NM_001291328.1|protein_coding|10/11|c.543G>A|p.Gly181Gly|928/1246|543/564|181/187||,A|intron_variant|MODIFIER|FAM228B|FAM228B|transcript|NR_111929.1|pseudogene|5/5|n.470-1708G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2938;p3_1000G_AF=0.586661;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=19368;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.6203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24390517;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=473,911;ESP6500_AA_GTC=88,297,307;ESP6500_CDS_SIZES=NM_001145710.1:974;ESP6500_CG=-1.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=193;ESP6500_EA_AC=2043,1139;ESP6500_EA_GTC=647,749,195;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001145710.1:coding-synonymous;ESP6500_GL=FAM228B;ESP6500_GRCh38_POSITION=2:24167648;ESP6500_GTC=735,1046,502;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001145710.1:c.953G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001145710.1:p.(G318);ESP6500_MAF=35.7951,34.1763,44.8971;ESP6500_TAC=2516,2050	GT:AD:DP:GQ:PL	1/1:0,14:14:42:446,42,0
chr2	24172400	rs918802	T	C	284.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs918802;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|FAM228A|FAM228A|transcript|NM_001040710.2|protein_coding||c.-3081T>C|||||2643|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NM_001145710.1|protein_coding||c.*4731T>C|||||2762|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NM_001291328.1|protein_coding||c.*4731T>C|||||2762|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NR_111929.1|pseudogene||n.*2762T>C|||||2762|,C|intergenic_region|MODIFIER|FAM228B-FAM228A|FAM228B-FAM228A|intergenic_region|FAM228B-FAM228A|||n.24172400T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4077;p3_1000G_AF=0.814097;p3_1000G_AFR_AF=0.5401;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=18664;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24395269;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:313,27,0
chr2	24172425	rs918803	T	C	471.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs918803;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|FAM228A|FAM228A|transcript|NM_001040710.2|protein_coding||c.-3056T>C|||||2618|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NM_001145710.1|protein_coding||c.*4756T>C|||||2787|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NM_001291328.1|protein_coding||c.*4756T>C|||||2787|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NR_111929.1|pseudogene||n.*2787T>C|||||2787|,C|intergenic_region|MODIFIER|FAM228B-FAM228A|FAM228B-FAM228A|intergenic_region|FAM228B-FAM228A|||n.24172425T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4077;p3_1000G_AF=0.814097;p3_1000G_AFR_AF=0.5401;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=18647;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24395294;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:500,45,0
chr2	24172637	rs889830	T	C	835.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs889830;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|FAM228A|FAM228A|transcript|NM_001040710.2|protein_coding||c.-2844T>C|||||2406|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NM_001145710.1|protein_coding||c.*4968T>C|||||2999|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NM_001291328.1|protein_coding||c.*4968T>C|||||2999|,C|downstream_gene_variant|MODIFIER|FAM228B|FAM228B|transcript|NR_111929.1|pseudogene||n.*2999T>C|||||2999|,C|intergenic_region|MODIFIER|FAM228B-FAM228A|FAM228B-FAM228A|intergenic_region|FAM228B-FAM228A|||n.24172637T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4074;p3_1000G_AF=0.813498;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=16589;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24395506;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:864,84,0
chr2	24175412	rs2042467	T	G	352.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2042467;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|FAM228A|FAM228A|transcript|NM_001040710.2|protein_coding|1/5|c.-14-55T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4280;p3_1000G_AF=0.854633;p3_1000G_AFR_AF=0.6165;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=13981;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.9384;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24398281;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.956;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:381,36,0
chr2	24175577	rs2042468	A	T	539.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.41;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2042468;dbSNPBuildID=94;ANN=T|splice_region_variant&intron_variant|LOW|FAM228A|FAM228A|transcript|NM_001040710.2|protein_coding|2/5|c.93+4A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3115;p3_1000G_AF=0.622005;p3_1000G_AFR_AF=0.4425;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=16389;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.6173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24398446;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1698,2084;ESP6500_AA_GTC=395,908,588;ESP6500_CDS_SIZES=NM_001040710.1:621;ESP6500_CG=3.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=64;ESP6500_EA_AC=5285,2927;ESP6500_EA_GTC=1708,1869,529;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001040710.1:intron;ESP6500_GL=FAM228A;ESP6500_GRCh38_POSITION=2:24175577;ESP6500_GTC=2103,2777,1117;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001040710.1:c.93+4A>T;ESP6500_MAF=35.643,44.8969,41.7792;ESP6500_TAC=6983,5011	GT:AD:DP:GQ:PL	1/1:0,19:19:57:568,57,0
chr2	24179258	rs61193015	C	CAA	493.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=1.445;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61193015,rs74696238;dbSNPBuildID=129;ANN=CAA|intron_variant|MODIFIER|FAM228A|FAM228A|transcript|NM_001040710.2|protein_coding|3/5|c.162+1388_162+1389insAA||||||;p3_1000G_AC=4819;p3_1000G_AF=0.96226;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=18678;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.9652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24402127;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:36:531,36,0
chr2	24190742	rs2288075	A	G	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.888;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.859;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288075;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|FAM228A|FAM228A|transcript|NM_001040710.2|protein_coding|6/6|c.*111A>G|||||111|;p3_1000G_AA=A|||;p3_1000G_AC=457;p3_1000G_AF=0.091254;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=17800;p3_1000G_EAS_AF=0.2163;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24413611;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:268,0,305
chr2	24209798	rs2303295	C	G	190.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2303295;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_006277.2|protein_coding|35/39|c.4473+20G>C||||||,G|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_019595.3|protein_coding|34/38|c.4392+20G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4305;p3_1000G_AF=0.859625;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=20838;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24432667;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3050,1356;ESP6500_AA_AGE=451.4+/-349.7;ESP6500_AA_GTC=1075,900,228;ESP6500_CDS_SIZES=NM_019595.3:5013,NM_006277.2:5094;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=7881,719;ESP6500_EA_AGE=175.0+/-225.2;ESP6500_EA_GTC=3600,681,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019595.3:intron,NM_006277.2:intron;ESP6500_GL=ITSN2;ESP6500_GRCh38_POSITION=2:24209798;ESP6500_GTC=4675,1581,247;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_019595.3:c.4392+20G>C,NM_006277.2:c.4473+20G>C;ESP6500_MAF=8.3605,30.7762,15.9542;ESP6500_TAC=10931,2075	GT:AD:DP:GQ:PL	1/1:0,6:6:18:219,18,0
chr2	24218128	rs2551183	A	T	493.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2551183;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_147152.2|protein_coding||c.*2766T>A|||||2191|,T|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_006277.2|protein_coding|30/39|c.3700-115T>A||||||,T|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_019595.3|protein_coding|29/38|c.3619-115T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4853;p3_1000G_AF=0.96905;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=25061;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24440997;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:522,42,0
chr2	24252336	rs4450560	T	C	1144.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4450560;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_006277.2|protein_coding|25/39|c.3120+9A>G||||||,C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_019595.3|protein_coding|24/38|c.3039+9A>G||||||,C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_147152.2|protein_coding|25/29|c.3120+9A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18484;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24475205;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4406,0;ESP6500_AA_GTC=2203,0,0;ESP6500_CDS_SIZES=NM_147152.2:3750,NM_019595.3:5013,NM_006277.2:5094;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=71;ESP6500_EA_AC=8584,16;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=4284,16,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147152.2:intron,NM_019595.3:intron,NM_006277.2:intron;ESP6500_GL=ITSN2;ESP6500_GRCh38_POSITION=2:24252336;ESP6500_GTC=6487,16,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_147152.2:c.3120+9A>G,NM_019595.3:c.3039+9A>G,NM_006277.2:c.3120+9A>G;ESP6500_MAF=0.186,0.0,0.123;ESP6500_TAC=12990,16	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1173,102,0
chr2	24261281	rs4665680	T	C	1054.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665680;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_006277.2|protein_coding|21/39|c.2538-31A>G||||||,C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_019595.3|protein_coding|20/38|c.2457-31A>G||||||,C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_147152.2|protein_coding|21/29|c.2538-31A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4862;p3_1000G_AF=0.970847;p3_1000G_AFR_AF=0.9607;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=18958;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9811;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24484150;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9509;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4286,114;ESP6500_AA_AGE=78.3+/-116.7;ESP6500_AA_GTC=2087,112,1;ESP6500_CDS_SIZES=NM_147152.2:3750,NM_019595.3:5013,NM_006277.2:5094;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=38;ESP6500_EA_AC=8418,180;ESP6500_EA_AGE=77.5+/-140.1;ESP6500_EA_GTC=4124,170,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147152.2:intron,NM_019595.3:intron,NM_006277.2:intron;ESP6500_GL=ITSN2;ESP6500_GRCh38_POSITION=2:24261281;ESP6500_GTC=6211,282,6;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_147152.2:c.2538-31A>G,NM_019595.3:c.2457-31A>G,NM_006277.2:c.2538-31A>G;ESP6500_MAF=2.0935,2.5909,2.2619;ESP6500_TAC=12704,294	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1083,99,0
chr2	24261662	rs41281489	A	G	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.042;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-0.54;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41281489;dbSNPBuildID=127;ANN=G|synonymous_variant|LOW|ITSN2|ITSN2|transcript|NM_006277.2|protein_coding|21/40|c.2436T>C|p.Tyr812Tyr|2694/6112|2436/5094|812/1697||,G|synonymous_variant|LOW|ITSN2|ITSN2|transcript|NM_019595.3|protein_coding|20/39|c.2355T>C|p.Tyr785Tyr|2613/6031|2355/5013|785/1670||,G|synonymous_variant|LOW|ITSN2|ITSN2|transcript|NM_147152.2|protein_coding|21/30|c.2436T>C|p.Tyr812Tyr|2694/4583|2436/3750|812/1249||,G|sequence_feature|LOW|ITSN2|ITSN2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_006277.2|protein_coding|21/40|c.2436T>C||||||,G|sequence_feature|LOW|ITSN2|ITSN2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_019595.3|protein_coding|20/39|c.2355T>C||||||,G|sequence_feature|LOW|ITSN2|ITSN2|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_147152.2|protein_coding|21/30|c.2436T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=45;p3_1000G_AF=0.00898562;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17575;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24484531;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=12,4394;ESP6500_AA_AGE=20.2+/-43.8;ESP6500_AA_GTC=0,12,2191;ESP6500_CDS_SIZES=NM_147152.2:3750,NM_019595.3:5013,NM_006277.2:5094;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=109;ESP6500_EA_AC=157,8443;ESP6500_EA_AGE=75.4+/-138.0;ESP6500_EA_GTC=0,157,4143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147152.2:coding-synonymous,NM_019595.3:coding-synonymous,NM_006277.2:coding-synonymous;ESP6500_GL=ITSN2;ESP6500_GRCh38_POSITION=2:24261662;ESP6500_GTC=0,169,6334;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_147152.2:c.2436T>C,NM_019595.3:c.2355T>C,NM_006277.2:c.2436T>C;ESP6500_HGVS_PROTEIN_VAR=NM_147152.2:p.(Y812),NM_019595.3:p.(Y785),NM_006277.2:p.(Y812);ESP6500_MAF=1.8256,0.2724,1.2994;ESP6500_TAC=169,12837	GT:AD:DP:GQ:PL	0/1:8,21:29:99:505,0,161
chr2	24284888	rs566368308;rs754676696;rs878912213	ATTT	A	61.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=142,144,147;ANN=A|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_006277.2|protein_coding|16/39|c.1864-48_1864-46delAAA||||||,A|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_019595.3|protein_coding|16/38|c.1863+1321_1863+1323delAAA||||||,A|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_147152.2|protein_coding|16/29|c.1864-48_1864-46delAAA||||||;p3_1000G_AC=3705;p3_1000G_AF=0.739816;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=16072;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.7644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24507757;p3_1000G_GRCH37_REF=ATTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:98,9,0
chr2	24298624	rs7559133	C	T	592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7559133;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_006277.2|protein_coding|13/39|c.1494+41G>A||||||,T|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_019595.3|protein_coding|13/38|c.1494+41G>A||||||,T|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_147152.2|protein_coding|13/29|c.1494+41G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4874;p3_1000G_AF=0.973243;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=17527;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9811;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24521493;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4300,106;ESP6500_AA_AGE=82.4+/-120.9;ESP6500_AA_GTC=2098,104,1;ESP6500_CDS_SIZES=NM_147152.2:3750,NM_019595.3:5013,NM_006277.2:5094;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=93;ESP6500_EA_AC=8419,181;ESP6500_EA_AGE=82.3+/-144.9;ESP6500_EA_GTC=4124,171,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147152.2:intron,NM_019595.3:intron,NM_006277.2:intron;ESP6500_GL=ITSN2;ESP6500_GRCh38_POSITION=2:24298624;ESP6500_GTC=6222,275,6;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_147152.2:c.1494+41G>A,NM_019595.3:c.1494+41G>A,NM_006277.2:c.1494+41G>A;ESP6500_MAF=2.1047,2.4058,2.2067;ESP6500_TAC=12719,287	GT:AD:DP:GQ:PL	1/1:0,19:19:57:621,57,0
chr2	24327998	rs537497285;rs558941348;rs60863260;rs67389058	CA	C	619.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.391;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.17;ReadPosRankSum=1.18;SOR=0.804;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60863260,rs67389058;dbSNPBuildID=132,142,142,129;ANN=C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_006277.2|protein_coding|2/39|c.31+53delT||||||,C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_019595.3|protein_coding|2/38|c.31+53delT||||||,C|intron_variant|MODIFIER|ITSN2|ITSN2|transcript|NM_147152.2|protein_coding|2/29|c.31+53delT||||||	GT:AD:DP:GQ:PL	1/1:1,21:22:56:583,56,0
chr2	24673520	rs4665712	T	G	145.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665712;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_003743.4|protein_coding|5/20|c.354+57T>G||||||,G|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147223.2|protein_coding|5/21|c.354+57T>G||||||,G|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147233.2|protein_coding|5/20|c.354+57T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2921;p3_1000G_AF=0.583267;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=15137;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.6292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24896389;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:174,15,0
chr2	24683058	rs11125744	G	C	876.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.57;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11125744;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|NCOA1|NCOA1|transcript|NM_003743.4|protein_coding|6/21|c.462G>C|p.Thr154Thr|720/6894|462/4326|154/1441||,C|synonymous_variant|LOW|NCOA1|NCOA1|transcript|NM_147223.2|protein_coding|6/22|c.462G>C|p.Thr154Thr|720/6951|462/4200|154/1399||,C|synonymous_variant|LOW|NCOA1|NCOA1|transcript|NM_147233.2|protein_coding|6/21|c.462G>C|p.Thr154Thr|720/6891|462/4323|154/1440||;p3_1000G_AA=C|||;p3_1000G_AC=4039;p3_1000G_AF=0.80651;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=13774;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24905927;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2523,1883;ESP6500_AA_AGE=541.9+/-375.9;ESP6500_AA_GTC=720,1083,400;ESP6500_CDS_SIZES=NM_147233.2:4323,NM_147223.2:4200,NM_003743.4:4326;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=7705,895;ESP6500_EA_AGE=200.9+/-244.5;ESP6500_EA_GTC=3456,793,51;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147233.2:coding-synonymous,NM_147223.2:coding-synonymous,NM_003743.4:coding-synonymous;ESP6500_GL=NCOA1;ESP6500_GRCh38_POSITION=2:24683058;ESP6500_GTC=4176,1876,451;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_147233.2:c.462G>C,NM_147223.2:c.462G>C,NM_003743.4:c.462G>C;ESP6500_HGVS_PROTEIN_VAR=NM_147233.2:p.(T154),NM_147223.2:p.(T154),NM_003743.4:p.(T154);ESP6500_MAF=10.407,42.7372,21.3594;ESP6500_TAC=10228,2778	GT:AD:DP:GQ:PL	1/1:0,33:33:99:905,99,0
chr2	24710820	rs7593430	A	C	561.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7593430;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_003743.4|protein_coding|11/20|c.2419-111A>C||||||,C|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147223.2|protein_coding|11/21|c.2419-111A>C||||||,C|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147233.2|protein_coding|11/20|c.2419-111A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4179;p3_1000G_AF=0.834465;p3_1000G_AFR_AF=0.6286;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=19105;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24933689;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:590,45,0
chr2	24729843	rs375818965	CT	C	12.01	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.72;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.421;SOR=0.33;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs375818965;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_003743.4|protein_coding|15/20|c.3201+41delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147223.2|protein_coding|15/21|c.3201+41delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147233.2|protein_coding|15/20|c.3201+41delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:23,5:28:49:49,0,504
chr2	24729871	rs11439247	C	CT	809.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=3.16;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11439247;dbSNPBuildID=130;ANN=CT|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_003743.4|protein_coding|15/20|c.3201+56_3201+57insT||||||,CT|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147223.2|protein_coding|15/21|c.3201+56_3201+57insT||||||,CT|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147233.2|protein_coding|15/20|c.3201+56_3201+57insT||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=4542;p3_1000G_AF=0.906949;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=15555;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.8966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24952740;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,21:21:63:847,63,0
chr2	24741718	rs189311553	A	G	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.99;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.804;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189311553;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_003743.4|protein_coding|16/20|c.3304-66A>G||||||,G|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147223.2|protein_coding|16/21|c.3304-66A>G||||||,G|intron_variant|MODIFIER|NCOA1|NCOA1|transcript|NM_147233.2|protein_coding|16/20|c.3304-66A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19335;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24964587;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:263,0,175
chr2	24752076	rs11125763	T	G	1346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11125763;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|NCOA1|NCOA1|transcript|NM_003743.4|protein_coding|18/21|c.3801T>G|p.Leu1267Leu|4059/6894|3801/4326|1267/1441||,G|synonymous_variant|LOW|NCOA1|NCOA1|transcript|NM_147223.2|protein_coding|18/22|c.3801T>G|p.Leu1267Leu|4059/6951|3801/4200|1267/1399||,G|synonymous_variant|LOW|NCOA1|NCOA1|transcript|NM_147233.2|protein_coding|18/21|c.3801T>G|p.Leu1267Leu|4059/6891|3801/4323|1267/1440||;p3_1000G_AA=G|||;p3_1000G_AC=4187;p3_1000G_AF=0.836062;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=17454;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24974945;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2945,1461;ESP6500_AA_AGE=471.8+/-356.2;ESP6500_AA_GTC=983,979,241;ESP6500_CDS_SIZES=NM_147233.2:4323,NM_147223.2:4200,NM_003743.4:4326;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=71;ESP6500_EA_AC=7706,894;ESP6500_EA_AGE=200.7+/-244.4;ESP6500_EA_GTC=3456,794,50;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_147233.2:coding-synonymous,NM_147223.2:coding-synonymous,NM_003743.4:coding-synonymous;ESP6500_GL=NCOA1;ESP6500_GRCh38_POSITION=2:24752076;ESP6500_GTC=4439,1773,291;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_147233.2:c.3801T>G,NM_147223.2:c.3801T>G,NM_003743.4:c.3801T>G;ESP6500_HGVS_PROTEIN_VAR=NM_147233.2:p.(L1267),NM_147223.2:p.(L1267),NM_003743.4:p.(L1267);ESP6500_MAF=10.3953,33.1593,18.107;ESP6500_TAC=10651,2355	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1375,129,0
chr2	24790654	rs12471620	G	C	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12471620;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_001322101.1|protein_coding||c.-3266G>C|||||2461|,C|upstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_001199803.2|protein_coding||c.-2820G>C|||||2461|,C|upstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_024322.3|protein_coding||c.-3266G>C|||||2461|,C|upstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136182.1|pseudogene||n.-2461G>C|||||2461|,C|upstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136183.1|pseudogene||n.-2461G>C|||||2461|,C|upstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136184.1|pseudogene||n.-2461G>C|||||2461|,C|intron_variant|MODIFIER|PTRHD1|PTRHD1|transcript|NM_001013663.1|protein_coding|1/1|c.253-73C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2161;p3_1000G_AF=0.43151;p3_1000G_AFR_AF=0.1248;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=19210;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25013523;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:463,42,0
chr2	24799573	rs34475213;rs565051673;rs68095203	TA	T	784.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.966;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.31;ReadPosRankSum=-1.486;SOR=0.578;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs68095203,rs34475213;dbSNPBuildID=137,142,126;ANN=T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_001322101.1|protein_coding|2/7|c.47-89delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_001199803.2|protein_coding|1/6|c.29-89delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_024322.3|protein_coding|2/7|c.47-89delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136182.1|pseudogene|1/6|n.407-89delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136183.1|pseudogene|1/6|n.407-89delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136184.1|pseudogene|1/6|n.388-89delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,30:31:77:814,77,0
chr2	24814620	rs10618594;rs397698227;rs60827142;rs769540920	TCA	T	181.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60827142,rs10618594;dbSNPBuildID=132,144,135,138;ANN=T|downstream_gene_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding||c.*5310_*5311delTG|||||4549|,T|downstream_gene_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding||c.*5310_*5311delTG|||||4549|,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_001322101.1|protein_coding|4/7|c.334+146_334+147delCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_001199803.2|protein_coding|3/6|c.316+146_316+147delCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_024322.3|protein_coding|4/7|c.334+146_334+147delCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136182.1|pseudogene|3/6|n.694+146_694+147delCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136183.1|pseudogene|3/6|n.694+146_694+147delCA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136184.1|pseudogene|3/6|n.675+146_675+147delCA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,6:6:18:219,18,0
chr2	24815399	rs2082881	G	A	716.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.13;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2082881;dbSNPBuildID=96;ANN=A|downstream_gene_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding||c.*4533C>T|||||3771|,A|downstream_gene_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding||c.*4533C>T|||||3771|,A|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_001322101.1|protein_coding|4/7|c.335-98G>A||||||,A|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_001199803.2|protein_coding|3/6|c.317-98G>A||||||,A|intron_variant|MODIFIER|CENPO|CENPO|transcript|NM_024322.3|protein_coding|4/7|c.335-98G>A||||||,A|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136182.1|pseudogene|3/6|n.695-199G>A||||||,A|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136183.1|pseudogene|3/6|n.695-98G>A||||||,A|intron_variant|MODIFIER|CENPO|CENPO|transcript|NR_136184.1|pseudogene|3/6|n.676-199G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3280;p3_1000G_AF=0.654952;p3_1000G_AFR_AF=0.3555;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=19263;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.7525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25038268;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:745,63,0
chr2	24819756	rs1044040	C	G	635.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1044040;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|CENPO|CENPO|transcript|NM_001322101.1|protein_coding|8/8|c.*438C>G|||||1950|,G|3_prime_UTR_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|22/22|c.*176G>C|||||176|,G|3_prime_UTR_variant|MODIFIER|CENPO|CENPO|transcript|NM_001199803.2|protein_coding|7/7|c.*438C>G|||||1950|,G|3_prime_UTR_variant|MODIFIER|CENPO|CENPO|transcript|NM_024322.3|protein_coding|8/8|c.*438C>G|||||1950|,G|3_prime_UTR_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|22/22|c.*176G>C|||||176|,G|non_coding_transcript_exon_variant|MODIFIER|CENPO|CENPO|transcript|NR_136182.1|pseudogene|7/7|n.1600C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CENPO|CENPO|transcript|NR_136183.1|pseudogene|7/7|n.1701C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CENPO|CENPO|transcript|NR_136184.1|pseudogene|7/7|n.1581C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4131;p3_1000G_AF=0.82488;p3_1000G_AFR_AF=0.6029;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=19488;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.8996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25042625;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:664,57,0
chr2	24823221	rs1127568	T	C	1310.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=1.055;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1127568;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|18/22|c.2874A>G|p.Ser958Ser|3406/4732|2874/3438|958/1145||,C|synonymous_variant|LOW|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|18/22|c.2871A>G|p.Ser957Ser|3403/4729|2871/3435|957/1144||,C|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_001322101.1|protein_coding||c.*5415T>C|||||845|,C|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_001199803.2|protein_coding||c.*5415T>C|||||845|,C|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_024322.3|protein_coding||c.*5415T>C|||||845|,C|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136182.1|pseudogene||n.*845T>C|||||845|,C|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136183.1|pseudogene||n.*845T>C|||||845|,C|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136184.1|pseudogene||n.*845T>C|||||845|;p3_1000G_AA=C|||;p3_1000G_AC=3462;p3_1000G_AF=0.691294;p3_1000G_AFR_AF=0.5295;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=20373;p3_1000G_EAS_AF=0.879;p3_1000G_EUR_AF=0.668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25046090;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2405,2001;ESP6500_AA_AGE=561.5+/-380.7;ESP6500_AA_GTC=642,1121,440;ESP6500_CDS_SIZES=NM_004036.3:3435;ESP6500_CG=-8.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=92;ESP6500_EA_AC=5729,2871;ESP6500_EA_AGE=450.6+/-362.4;ESP6500_EA_GTC=1927,1875,498;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004036.3:coding-synonymous;ESP6500_GL=ADCY3;ESP6500_GRCh38_POSITION=2:24823221;ESP6500_GTC=2569,2996,938;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004036.3:c.2871A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004036.3:p.(S957);ESP6500_MAF=33.3837,45.4153,37.4596;ESP6500_TAC=8134,4872	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1339,129,0
chr2	24824539	rs7604576	A	G	2411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=1.643;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7604576;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|16/21|c.2581-3T>C||||||,G|splice_region_variant&intron_variant|LOW|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|16/21|c.2578-3T>C||||||,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_001322101.1|protein_coding||c.*6733A>G|||||2163|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_001199803.2|protein_coding||c.*6733A>G|||||2163|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_024322.3|protein_coding||c.*6733A>G|||||2163|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136182.1|pseudogene||n.*2163A>G|||||2163|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136183.1|pseudogene||n.*2163A>G|||||2163|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136184.1|pseudogene||n.*2163A>G|||||2163|;p3_1000G_AA=A|||;p3_1000G_AC=2612;p3_1000G_AF=0.521565;p3_1000G_AFR_AF=0.2837;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=20285;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.5229;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25047408;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=1383,3023;ESP6500_AA_AGE=455.7+/-351.1;ESP6500_AA_GTC=214,955,1034;ESP6500_CDS_SIZES=NM_004036.3:3435;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=100;ESP6500_EA_AC=4473,4127;ESP6500_EA_AGE=590.9+/-392.8;ESP6500_EA_GTC=1205,2063,1032;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004036.3:intron;ESP6500_GL=ADCY3;ESP6500_GRCh38_POSITION=2:24824539;ESP6500_GTC=1419,3018,2066;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004036.3:c.2578-3T>C;ESP6500_MAF=47.9884,31.389,45.0254;ESP6500_TAC=5856,7150	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2440,213,0
chr2	24825978	rs2289090	A	G	1150.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=1.949;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289090;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_001322101.1|protein_coding||c.*8172A>G|||||3602|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_001199803.2|protein_coding||c.*8172A>G|||||3602|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NM_024322.3|protein_coding||c.*8172A>G|||||3602|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136182.1|pseudogene||n.*3602A>G|||||3602|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136183.1|pseudogene||n.*3602A>G|||||3602|,G|downstream_gene_variant|MODIFIER|CENPO|CENPO|transcript|NR_136184.1|pseudogene||n.*3602A>G|||||3602|,G|intron_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|16/21|c.2580+67T>C||||||,G|intron_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|16/21|c.2577+67T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3304;p3_1000G_AF=0.659744;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=18609;p3_1000G_EAS_AF=0.879;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25048847;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1179,108,0
chr2	24828108	rs7566416	T	C	1827.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.36;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7566416;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|14/22|c.2226A>G|p.Glu742Glu|2758/4732|2226/3438|742/1145||,C|synonymous_variant|LOW|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|14/22|c.2226A>G|p.Glu742Glu|2758/4729|2226/3435|742/1144||;p3_1000G_AA=C|||;p3_1000G_AC=3303;p3_1000G_AF=0.659545;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=16311;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.669;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25050977;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1940,2466;ESP6500_AA_AGE=621.4+/-393.7;ESP6500_AA_GTC=424,1092,687;ESP6500_CDS_SIZES=NM_004036.3:3435;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=62;ESP6500_EA_AC=5743,2857;ESP6500_EA_AGE=443.6+/-360.4;ESP6500_EA_GTC=1938,1867,495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004036.3:coding-synonymous;ESP6500_GL=ADCY3;ESP6500_GRCh38_POSITION=2:24828108;ESP6500_GTC=2362,2959,1182;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004036.3:c.2226A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004036.3:p.(E742);ESP6500_MAF=33.2209,44.0309,40.9273;ESP6500_TAC=7683,5323	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1856,156,0
chr2	24834394	rs2278485	G	A	401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.7;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278485;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|11/21|c.1967+91C>T||||||,A|intron_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|11/21|c.1967+91C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2064;p3_1000G_AF=0.412141;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=11033;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.4851;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25057263;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:41:430,41,0
chr2	24839765	rs11125810	A	G	1143.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11125810;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|7/21|c.1355+108T>C||||||,G|intron_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|7/21|c.1355+108T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4157;p3_1000G_AF=0.830072;p3_1000G_AFR_AF=0.6309;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=16155;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.8986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25062634;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1172,99,0
chr2	24841210	rs2241757	G	A	660.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2241757;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|6/21|c.1196+49C>T||||||,A|intron_variant|MODIFIER|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|6/21|c.1196+49C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1862;p3_1000G_AF=0.371805;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=16735;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.3877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25064079;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=397,3819;ESP6500_AA_GTC=21,355,1732;ESP6500_CDS_SIZES=NM_004036.3:3435;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=12;ESP6500_EA_AC=2797,5513;ESP6500_EA_GTC=519,1759,1877;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004036.3:intron;ESP6500_GL=ADCY3;ESP6500_GRCh38_POSITION=2:24841210;ESP6500_GTC=540,2114,3609;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004036.3:c.1196+49C>T;ESP6500_MAF=33.6582,9.4165,25.499;ESP6500_TAC=3194,9332	GT:AD:DP:GQ:PL	1/1:0,22:22:66:689,66,0
chr2	24841288	rs2241758	G	C	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.804;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.767;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241758;dbSNPBuildID=98;ANN=C|synonymous_variant|LOW|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|6/22|c.1167C>G|p.Leu389Leu|1699/4732|1167/3438|389/1145||,C|synonymous_variant|LOW|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|6/22|c.1167C>G|p.Leu389Leu|1699/4729|1167/3435|389/1144||;p3_1000G_AA=G|||;p3_1000G_AC=354;p3_1000G_AF=0.0706869;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=17354;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.0855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25064157;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=86,4304;ESP6500_AA_GTC=2,82,2111;ESP6500_CDS_SIZES=NM_004036.3:3435;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=35;ESP6500_EA_AC=622,7966;ESP6500_EA_GTC=15,592,3687;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004036.3:coding-synonymous;ESP6500_GL=ADCY3;ESP6500_GRCh38_POSITION=2:24841288;ESP6500_GTC=17,674,5798;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004036.3:c.1167C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004036.3:p.(L389);ESP6500_MAF=7.2427,1.959,5.4554;ESP6500_TAC=708,12270	GT:AD:DP:GQ:PL	0/1:24,19:43:99:467,0,717
chr2	24841324	rs2241759	G	A	667.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.141;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.454;SOR=0.647;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241759;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|ADCY3|ADCY3|transcript|NM_001320613.1|protein_coding|6/22|c.1131C>T|p.Pro377Pro|1663/4732|1131/3438|377/1145||,A|synonymous_variant|LOW|ADCY3|ADCY3|transcript|NM_004036.4|protein_coding|6/22|c.1131C>T|p.Pro377Pro|1663/4729|1131/3435|377/1144||;p3_1000G_AA=A|||;p3_1000G_AC=2557;p3_1000G_AF=0.510583;p3_1000G_AFR_AF=0.3555;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=17167;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.4791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25064193;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1609,2793;ESP6500_AA_GTC=304,1001,896;ESP6500_CDS_SIZES=NM_004036.3:3435;ESP6500_CG=-7.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=36;ESP6500_EA_AC=4197,4399;ESP6500_EA_GTC=1066,2065,1167;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004036.3:coding-synonymous;ESP6500_GL=ADCY3;ESP6500_GRCh38_POSITION=2:24841324;ESP6500_GTC=1370,3066,2063;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004036.3:c.1131C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004036.3:p.(P377);ESP6500_MAF=48.825,36.5516,44.6684;ESP6500_TAC=5806,7192	GT:AD:DP:GQ:PL	0/1:23,29:52:99:696,0,557
chr2	24958619	rs12986502	T	C	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.457;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.491;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.19;ReadPosRankSum=-1.365;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12986502;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|DNAJC27|DNAJC27|transcript|NM_016544.2|protein_coding|3/6|c.241-645A>G||||||,C|intron_variant|MODIFIER|DNAJC27|DNAJC27|transcript|NM_001198559.1|protein_coding|3/5|c.241-645A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=578;p3_1000G_AF=0.115415;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=23025;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.1093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25181488;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,10:35:99:210,0,679
chr2	24971872	rs7593864	G	A	481.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.657;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.243;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.6;SOR=0.62;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7593864;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|DNAJC27|DNAJC27|transcript|NM_016544.2|protein_coding|1/7|c.33C>T|p.Pro11Pro|223/4992|33/822|11/273||,A|synonymous_variant|LOW|DNAJC27|DNAJC27|transcript|NM_001198559.1|protein_coding|1/6|c.33C>T|p.Pro11Pro|223/4831|33/534|11/177||,A|upstream_gene_variant|MODIFIER|DNAJC27-AS1|DNAJC27-AS1|transcript|NR_034113.1|pseudogene||n.-240G>A|||||240|;p3_1000G_AA=G|||;p3_1000G_AC=3570;p3_1000G_AF=0.712859;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=14385;p3_1000G_EAS_AF=0.744;p3_1000G_EUR_AF=0.7873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25194741;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2955,1451;ESP6500_AA_AGE=672.5+/-402.6;ESP6500_AA_GTC=1002,951,250;ESP6500_CDS_SIZES=NM_016544.2:822,NM_001198559.1:534;ESP6500_CG=-11.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=6642,1958;ESP6500_EA_AGE=714.2+/-406.0;ESP6500_EA_GTC=2560,1522,218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016544.2:coding-synonymous,NM_001198559.1:coding-synonymous;ESP6500_GL=DNAJC27;ESP6500_GRCh38_POSITION=2:24971872;ESP6500_GTC=3562,2473,468;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016544.2:c.33C>T,NM_001198559.1:c.33C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016544.2:p.(P11),NM_001198559.1:p.(P11);ESP6500_MAF=22.7674,32.9324,26.211;ESP6500_TAC=9597,3409	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,21:39:99:0|1:24971870_C_A:510,0,404
chr2	25091317	rs2918630	T	C	1327.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.19;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2918630;dbSNPBuildID=101;ANN=C|splice_region_variant&intron_variant|LOW|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|1/22|c.8-8T>C||||||,C|splice_region_variant&intron_variant|LOW|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|1/22|c.-98-8T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2921;p3_1000G_AF=0.583267;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=20496;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25314186;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=701,683;ESP6500_AA_GTC=171,359,162;ESP6500_CDS_SIZES=NM_014971.1:2454;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=134;ESP6500_EA_AC=1382,1800;ESP6500_EA_GTC=290,802,499;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014971.1:intron;ESP6500_GL=EFR3B;ESP6500_GRCh38_POSITION=2:25091317;ESP6500_GTC=461,1161,661;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014971.1:c.8-8T>C;ESP6500_MAF=43.4318,49.3497,45.6198;ESP6500_TAC=2083,2483	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1356,120,0
chr2	25121595	rs2276597	G	A	732.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.817;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.187;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276597;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|4/22|c.364-78G>A||||||,A|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|4/22|c.259-78G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1102;p3_1000G_AF=0.220048;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=19850;p3_1000G_EAS_AF=0.2153;p3_1000G_EUR_AF=0.2137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25344464;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,26:54:99:761,0,837
chr2	25136385	rs10202934	C	T	910.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=5.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10202934;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|13/22|c.1485-138C>T||||||,T|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|13/22|c.1380-138C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2003;p3_1000G_AF=0.39996;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=21381;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25359254;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:939,78,0
chr2	25136676	rs3731632	C	G	777.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.989;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.179;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.063;SOR=0.513;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731632;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|14/22|c.1560+78C>G||||||,G|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|14/22|c.1455+78C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=427;p3_1000G_AF=0.0852636;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=20977;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25359545;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,27:51:99:806,0,727
chr2	25145136	rs10188516	G	A	498.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.25;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10188516;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|19/22|c.2142+85G>A||||||,A|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|19/22|c.2037+85G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2239;p3_1000G_AF=0.447085;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=20590;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25368005;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:527,45,0
chr2	25145161	rs10180231	T	C	392.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10180231;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|19/22|c.2142+110T>C||||||,C|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|19/22|c.2037+110T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2301;p3_1000G_AF=0.459465;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=21108;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25368030;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:421,33,0
chr2	25153695	rs142275657	CGT	C	790.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.864;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.39;ReadPosRankSum=0.887;SOR=0.346;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs142275657;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|21/22|c.2299-12_2299-11delGT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|21/22|c.2194-12_2194-11delGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=428;p3_1000G_AF=0.0854633;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=19855;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25376564;p3_1000G_GRCH37_REF=CGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=INDEL;ESP6500_AA_AC=14,2482;ESP6500_AA_GTC=4,6,1238;ESP6500_CDS_SIZES=NM_014971.1:2454;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=61;ESP6500_EA_AC=36,4640;ESP6500_EA_GTC=13,10,2315;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014971.1:intron;ESP6500_GL=EFR3B;ESP6500_GRCh38_POSITION=2:25153695;ESP6500_GTC=17,16,3553;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014971.1:c.2299-16_2299-15del2;ESP6500_MAF=0.7699,0.5609,0.6972;ESP6500_TAC=50,7122	GT:AD:DP:GQ:PL	0/1:21,22:43:99:828,0,781
chr2	25154307	rs2164808	T	C	1361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=1.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2164808;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|23/23|c.2421T>C|p.Tyr807Tyr|2630/7458|2421/2454|807/817||,C|synonymous_variant|LOW|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|23/23|c.2316T>C|p.Tyr772Tyr|2618/7446|2316/2349|772/782||;p3_1000G_AA=C|||;p3_1000G_AC=4058;p3_1000G_AF=0.810304;p3_1000G_AFR_AF=0.8896;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=19023;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.6014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25377176;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1171,213;ESP6500_AA_GTC=497,177,18;ESP6500_CDS_SIZES=NM_014971.1:2454;ESP6500_CG=0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=175;ESP6500_EA_AC=1761,1421;ESP6500_EA_GTC=473,815,303;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014971.1:coding-synonymous;ESP6500_GL=EFR3B;ESP6500_GRCh38_POSITION=2:25154307;ESP6500_GTC=970,992,321;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014971.1:c.2421T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014971.1:p.(Y807);ESP6500_MAF=44.6574,15.3902,35.7862;ESP6500_TAC=2932,1634	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1390,135,0
chr2	25154460	rs2118404	C	T	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.093;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=1.03;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2118404;dbSNPBuildID=96;ANN=T|3_prime_UTR_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding|23/23|c.*120C>T|||||120|,T|3_prime_UTR_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding|23/23|c.*120C>T|||||120|;p3_1000G_AA=C|||;p3_1000G_AC=2072;p3_1000G_AF=0.413738;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=18305;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25377329;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:77:253,0,77
chr2	25161300	rs2071345;335354	G	A	1068.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.782;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=1.113;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=0.621;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2071345;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|POMC|POMC|transcript|NM_000939.3|protein_coding|3/3|c.585C>T|p.Ala195Ala|959/1406|585/804|195/267||,A|synonymous_variant|LOW|POMC|POMC|transcript|NM_001035256.2|protein_coding|4/4|c.585C>T|p.Ala195Ala|1009/1456|585/804|195/267||,A|synonymous_variant|LOW|POMC|POMC|transcript|NM_001319204.1|protein_coding|4/4|c.585C>T|p.Ala195Ala|1039/1486|585/804|195/267||,A|synonymous_variant|LOW|POMC|POMC|transcript|NM_001319205.1|protein_coding|3/3|c.585C>T|p.Ala195Ala|989/1436|585/804|195/267||,A|downstream_gene_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding||c.*6960G>A|||||2165|,A|downstream_gene_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding||c.*6960G>A|||||2165|;p3_1000G_AA=G|||;p3_1000G_AC=434;p3_1000G_AF=0.0866613;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=15068;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25384169;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=16,4380;ESP6500_AA_GTC=0,16,2182;ESP6500_CDS_SIZES=NM_001035256.1:804,NM_000939.2:804;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=14;ESP6500_EA_AC=16,8574;ESP6500_EA_GTC=0,16,4279;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035256.1:coding-synonymous,NM_000939.2:coding-synonymous;ESP6500_GL=POMC;ESP6500_GRCh38_POSITION=2:25161300;ESP6500_GTC=0,32,6461;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001035256.1:c.585C>T,NM_000939.2:c.585C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001035256.1:p.(A195),NM_000939.2:p.(A195);ESP6500_MAF=0.1863,0.364,0.2464;ESP6500_TAC=32,12954;CLINVAR_AF_ESP=0.0025;CLINVAR_AF_EXAC=0.05195;CLINVAR_AF_TGP=0.0867;CLINVAR_ALLELEID=288642;CLINVAR_CLNDISDB=MedGen:C1857854,OMIM:609734,Orphanet:ORPHA71526|MedGen:CN239457;CLINVAR_CLNDN=Proopiomelanocortin_deficiency|Monogenic_Non-Syndromic_Obesity;CLINVAR_CLNHGVS=NC_000002.12:g.25161300G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:69914;CLINVAR_GENEINFO=POMC:5443;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2071345	GT:AD:DP:GQ:PL	0/1:19,40:59:99:1097,0,471
chr2	25161603	rs28930368;335356	G	A	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.672;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.388;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.847;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28930368;dbSNPBuildID=125;ANN=A|synonymous_variant|LOW|POMC|POMC|transcript|NM_000939.3|protein_coding|3/3|c.282C>T|p.Ser94Ser|656/1406|282/804|94/267||,A|synonymous_variant|LOW|POMC|POMC|transcript|NM_001035256.2|protein_coding|4/4|c.282C>T|p.Ser94Ser|706/1456|282/804|94/267||,A|synonymous_variant|LOW|POMC|POMC|transcript|NM_001319204.1|protein_coding|4/4|c.282C>T|p.Ser94Ser|736/1486|282/804|94/267||,A|synonymous_variant|LOW|POMC|POMC|transcript|NM_001319205.1|protein_coding|3/3|c.282C>T|p.Ser94Ser|686/1436|282/804|94/267||,A|downstream_gene_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_014971.1|protein_coding||c.*7263G>A|||||2468|,A|downstream_gene_variant|MODIFIER|EFR3B|EFR3B|transcript|NM_001319099.1|protein_coding||c.*7263G>A|||||2468|;p3_1000G_AA=G|||;p3_1000G_AC=448;p3_1000G_AF=0.0894569;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=14510;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25384472;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=7,3609;ESP6500_AA_GTC=0,7,1801;ESP6500_CDS_SIZES=NM_001035256.1:804,NM_000939.2:804;ESP6500_CG=1.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=5;ESP6500_EA_AC=10,7310;ESP6500_EA_GTC=0,10,3650;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001035256.1:coding-synonymous,NM_000939.2:coding-synonymous;ESP6500_GL=POMC;ESP6500_GRCh38_POSITION=2:25161603;ESP6500_GTC=0,17,5451;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001035256.1:c.282C>T,NM_000939.2:c.282C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001035256.1:p.(S94),NM_000939.2:p.(S94);ESP6500_MAF=0.1366,0.1936,0.1554;ESP6500_TAC=17,10919;CLINVAR_AF_ESP=0.0016;CLINVAR_AF_EXAC=0.07606;CLINVAR_AF_TGP=0.0895;CLINVAR_ALLELEID=285611;CLINVAR_CLNDISDB=MedGen:C1857854,OMIM:609734,Orphanet:ORPHA71526|MedGen:CN239457;CLINVAR_CLNDN=Proopiomelanocortin_deficiency|Monogenic_Non-Syndromic_Obesity;CLINVAR_CLNHGVS=NC_000002.12:g.25161603G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:69932;CLINVAR_GENEINFO=POMC:5443;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28930368	GT:AD:DP:GQ:PL	0/1:26,25:51:99:618,0,739
chr2	25164989	rs3039380	G	GACC	637.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=4.047;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3039380;dbSNPBuildID=102;ANN=GACC|intron_variant|MODIFIER|POMC|POMC|transcript|NM_000939.3|protein_coding|1/2|c.-20-198_-20-197insGGT||||||,GACC|intron_variant|MODIFIER|POMC|POMC|transcript|NM_001035256.2|protein_coding|2/3|c.-20-198_-20-197insGGT||||||,GACC|intron_variant|MODIFIER|POMC|POMC|transcript|NM_001319204.1|protein_coding|2/3|c.-50-168_-50-167insGGT||||||,GACC|intron_variant|MODIFIER|POMC|POMC|transcript|NM_001319205.1|protein_coding|1/2|c.-50-168_-50-167insGGT||||||;p3_1000G_AC=4649;p3_1000G_AF=0.928315;p3_1000G_AFR_AF=0.8865;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=21981;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25387858;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.955;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:675,45,0
chr2	25235677	rs2304429	C	T	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.588;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.667;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304429;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_022552.4|protein_coding|22/22|c.2597+30G>A||||||,T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_001320893.1|protein_coding|17/17|c.2141+30G>A||||||,T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_153759.3|protein_coding|18/18|c.2030+30G>A||||||,T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_175629.2|protein_coding|22/22|c.2597+30G>A||||||,T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NR_135490.1|pseudogene|23/23|n.3134+30G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1807;p3_1000G_AF=0.360823;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=19111;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.5785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25458546;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=874,3532;ESP6500_AA_AGE=339.4+/-305.8;ESP6500_AA_GTC=74,726,1403;ESP6500_CDS_SIZES=NM_175629.2:2739,NM_153759.3:2172,NM_022552.4:2739;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=103;ESP6500_EA_AC=5052,3548;ESP6500_EA_AGE=629.1+/-398.2;ESP6500_EA_GTC=1479,2094,727;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175629.2:intron,NM_153759.3:intron,NM_022552.4:intron;ESP6500_GL=DNMT3A;ESP6500_GRCh38_POSITION=2:25235677;ESP6500_GTC=1553,2820,2130;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_175629.2:c.2597+30G>A,NM_153759.3:c.2030+30G>A,NM_022552.4:c.2597+30G>A;ESP6500_MAF=41.2558,19.8366,45.5636;ESP6500_TAC=5926,7080	GT:AD:DP:GQ:PL	0/1:19,17:36:99:446,0,582
chr2	25240614	rs2289195	G	A	450.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.239;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.115;SOR=1.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289195;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_022552.4|protein_coding|18/22|c.2173+26C>T||||||,A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_001320893.1|protein_coding|13/17|c.1717+26C>T||||||,A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_153759.3|protein_coding|14/18|c.1606+26C>T||||||,A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_175629.2|protein_coding|18/22|c.2173+26C>T||||||,A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NR_135490.1|pseudogene|18/23|n.2511+26C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=20264;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25463483;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1671,2735;ESP6500_AA_AGE=507.8+/-366.8;ESP6500_AA_GTC=317,1037,849;ESP6500_CDS_SIZES=NM_175629.2:2739,NM_153759.3:2172,NM_022552.4:2739;ESP6500_CG=1.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=102;ESP6500_EA_AC=3547,5053;ESP6500_EA_AGE=514.2+/-378.3;ESP6500_EA_GTC=751,2045,1504;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175629.2:intron,NM_153759.3:intron,NM_022552.4:intron;ESP6500_GL=DNMT3A;ESP6500_GRCh38_POSITION=2:25240614;ESP6500_GTC=1068,3082,2353;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_175629.2:c.2173+26C>T,NM_153759.3:c.1606+26C>T,NM_022552.4:c.2173+26C>T;ESP6500_MAF=41.2442,37.9256,40.1199;ESP6500_TAC=5218,7788	GT:AD:DP:GQ:PL	0/1:19,16:35:99:479,0,575
chr2	25244019	rs2289093	G	T	54.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.951;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=-0.264;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289093;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_022552.4|protein_coding|15/22|c.1852-37C>A||||||,T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_001320893.1|protein_coding|10/17|c.1396-37C>A||||||,T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_153759.3|protein_coding|11/18|c.1285-37C>A||||||,T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_175629.2|protein_coding|15/22|c.1852-37C>A||||||,T|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NR_135490.1|pseudogene|15/23|n.2190-37C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3006;p3_1000G_AF=0.60024;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=14933;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.7386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25466888;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2362,2014;ESP6500_AA_GTC=645,1072,471;ESP6500_CDS_SIZES=NM_175629.2:2739,NM_153759.3:2172,NM_022552.4:2739;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=6440,2138;ESP6500_EA_GTC=2428,1584,277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175629.2:intron,NM_153759.3:intron,NM_022552.4:intron;ESP6500_GL=DNMT3A;ESP6500_GRCh38_POSITION=2:25244019;ESP6500_GTC=3073,2656,748;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_175629.2:c.1852-37C>A,NM_153759.3:c.1285-37C>A,NM_022552.4:c.1852-37C>A;ESP6500_MAF=24.9242,46.0238,32.0519;ESP6500_TAC=8802,4152	GT:AD:DP:GQ:PL	0/1:7,3:10:83:83,0,232
chr2	25247044	rs2276599	C	T	456.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.746;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.82;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276599;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|DNMT3A|DNMT3A|transcript|NM_022552.4|protein_coding|9/22|c.1122+7G>A||||||,T|splice_region_variant&intron_variant|LOW|DNMT3A|DNMT3A|transcript|NM_001320893.1|protein_coding|4/17|c.666+7G>A||||||,T|splice_region_variant&intron_variant|LOW|DNMT3A|DNMT3A|transcript|NM_153759.3|protein_coding|5/18|c.555+7G>A||||||,T|splice_region_variant&intron_variant|LOW|DNMT3A|DNMT3A|transcript|NM_175629.2|protein_coding|9/22|c.1122+7G>A||||||,T|splice_region_variant&intron_variant|LOW|DNMT3A|DNMT3A|transcript|NR_135490.1|pseudogene|9/23|n.1460+7G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3075;p3_1000G_AF=0.614018;p3_1000G_AFR_AF=0.5227;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=20435;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25469913;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2487,1919;ESP6500_AA_AGE=544.6+/-376.6;ESP6500_AA_GTC=702,1083,418;ESP6500_CDS_SIZES=NM_175629.2:2739,NM_153759.3:2172,NM_022552.4:2739;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=6439,2161;ESP6500_EA_AGE=366.3+/-334.3;ESP6500_EA_GTC=2407,1625,268;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175629.2:intron,NM_153759.3:intron,NM_022552.4:intron;ESP6500_GL=DNMT3A;ESP6500_GRCh38_POSITION=2:25247044;ESP6500_GTC=3109,2708,686;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_175629.2:c.1122+7G>A,NM_153759.3:c.555+7G>A,NM_022552.4:c.1122+7G>A;ESP6500_MAF=25.1279,43.5542,31.3701;ESP6500_TAC=8926,4080	GT:AD:DP:GQ:PL	0/1:24,20:44:99:485,0,637
chr2	25248300	rs3216707	GC	G	228.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=7.521;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.03;SOR=2.546;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3216707;dbSNPBuildID=106;ANN=G|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_022552.4|protein_coding|6/22|c.640-49delG||||||,G|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_001320893.1|protein_coding|1/17|c.184-49delG||||||,G|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_153759.3|protein_coding|2/18|c.73-49delG||||||,G|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_175629.2|protein_coding|6/22|c.640-49delG||||||,G|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NR_135490.1|pseudogene|6/23|n.978-49delG||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=390;p3_1000G_AF=0.0778754;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=17654;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25471169;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=INDEL;ESP6500_AA_AC=507,3729;ESP6500_AA_GTC=40,427,1651;ESP6500_CDS_SIZES=NM_175629.2:2739,NM_153759.3:2172,NM_022552.4:2739;ESP6500_CG=4.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=6;ESP6500_EA_AC=799,7375;ESP6500_EA_GTC=69,661,3357;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175629.2:intron,NM_153759.3:intron,NM_022552.4:intron;ESP6500_GL=DNMT3A;ESP6500_GRCh38_POSITION=2:25248300;ESP6500_GTC=109,1088,5008;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_175629.2:c.640-49del1,NM_153759.3:c.73-49del1,NM_022552.4:c.640-49del1;ESP6500_MAF=9.7749,11.9688,10.5238;ESP6500_TAC=1306,11104	GT:AD:DP:GQ:PL	0/1:11,8:19:99:266,0,387
chr2	25249798	rs370104850	G	A	711.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.108;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.564;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=1.3;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370104850;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_022552.4|protein_coding|6/22|c.640-1546C>T||||||,A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_001320893.1|protein_coding|1/17|c.184-1546C>T||||||,A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_153759.3|protein_coding|1/18|c.5-74C>T||||||,A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NM_175629.2|protein_coding|6/22|c.640-1546C>T||||||,A|intron_variant|MODIFIER|DNMT3A|DNMT3A|transcript|NR_135490.1|pseudogene|6/23|n.978-1546C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20712;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25472667;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,24:37:99:740,0,364
chr2	25387418	rs66917623	G	T	333.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.313;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.479;SOR=0.999;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs66917623;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_021907.4|protein_coding|17/20|c.1736-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256308.2|protein_coding|15/17|c.1544-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256304.1|protein_coding|15/17|c.1715-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256303.1|protein_coding|16/19|c.1715-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320932.1|protein_coding|15/17|c.1103-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320933.1|protein_coding|15/18|c.1625-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320934.1|protein_coding|16/19|c.1646-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320935.1|protein_coding|14/17|c.1103-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_033147.3|protein_coding|17/19|c.1735+784C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_033148.3|protein_coding|16/18|c.1645+784C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_183360.2|protein_coding|17/19|c.1736-40C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_183361.2|protein_coding|15/17|c.1624+784C>A||||||,T|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320936.1|protein_coding|17/18|c.1736-40C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=806;p3_1000G_AF=0.160942;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=21231;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25610287;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=434,3914;ESP6500_AA_GTC=20,394,1760;ESP6500_CDS_SIZES=NM_183361.2:1683,NM_183360.2:1830,NM_033148.3:1704,NM_033147.3:1794,NM_021907.4:1884,NM_001256308.1:1638,NM_001256304.1:1809,NM_001256303.1:1863;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=42;ESP6500_EA_AC=2404,6156;ESP6500_EA_GTC=328,1748,2204;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183361.2:intron,NM_183360.2:intron,NM_033148.3:intron,NM_033147.3:intron,NM_021907.4:intron,NM_001256308.1:intron,NM_001256304.1:intron,NM_001256303.1:intron;ESP6500_GL=DTNB;ESP6500_GRCh38_POSITION=2:25387418;ESP6500_GTC=348,2142,3964;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_183361.2:c.1624+784C>A,NM_183360.2:c.1736-40C>A,NM_033148.3:c.1645+784C>A,NM_033147.3:c.1735+784C>A,NM_021907.4:c.1736-40C>A,NM_001256308.1:c.1544-40C>A,NM_001256304.1:c.1715-40C>A,NM_001256303.1:c.1715-40C>A;ESP6500_MAF=28.0841,9.9816,21.9864;ESP6500_TAC=2838,10070	GT:AD:DP:GQ:PL	0/1:9,16:25:99:362,0,313
chr2	25434011	rs1395949	C	G	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=-1.235;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1395949;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_021907.4|protein_coding|12/20|c.1258-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256308.2|protein_coding|11/17|c.1087-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256304.1|protein_coding|11/17|c.1258-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256303.1|protein_coding|12/19|c.1258-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320932.1|protein_coding|11/17|c.646-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320933.1|protein_coding|11/18|c.1168-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320934.1|protein_coding|11/19|c.1168-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320935.1|protein_coding|10/17|c.646-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_033147.3|protein_coding|12/19|c.1258-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_033148.3|protein_coding|11/18|c.1168-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_183360.2|protein_coding|12/19|c.1258-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_183361.2|protein_coding|11/17|c.1168-16G>C||||||,G|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320936.1|protein_coding|12/18|c.1258-16G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4088;p3_1000G_AF=0.816294;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=19514;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.9026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25656880;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8241;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3202,476;ESP6500_AA_GTC=1389,424,26;ESP6500_CDS_SIZES=NM_183361.2:1683,NM_183360.2:1830,NM_033148.3:1704,NM_033147.3:1794,NM_021907.4:1884,NM_001256308.1:1638,NM_001256304.1:1809,NM_001256303.1:1863;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=125;ESP6500_EA_AC=7516,640;ESP6500_EA_GTC=3474,568,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183361.2:intron,NM_183360.2:intron,NM_033148.3:intron,NM_033147.3:intron,NM_021907.4:intron,NM_001256308.1:intron,NM_001256304.1:intron,NM_001256303.1:intron;ESP6500_GL=DTNB;ESP6500_GRCh38_POSITION=2:25434011;ESP6500_GTC=4863,992,62;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_183361.2:c.1168-16G>C,NM_183360.2:c.1258-16G>C,NM_033148.3:c.1168-16G>C,NM_033147.3:c.1258-16G>C,NM_021907.4:c.1258-16G>C,NM_001256308.1:c.1087-16G>C,NM_001256304.1:c.1258-16G>C,NM_001256303.1:c.1258-16G>C;ESP6500_MAF=7.847,12.9418,9.4305;ESP6500_TAC=10718,1116	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,10:21:99:0|1:25434011_C_G:369,0,508
chr2	25434020	rs11451153	G	GT	294.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.173;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.76;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11451153;dbSNPBuildID=138;ANN=GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_021907.4|protein_coding|12/20|c.1258-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256308.2|protein_coding|11/17|c.1087-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256304.1|protein_coding|11/17|c.1258-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001256303.1|protein_coding|12/19|c.1258-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320932.1|protein_coding|11/17|c.646-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320933.1|protein_coding|11/18|c.1168-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320934.1|protein_coding|11/19|c.1168-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320935.1|protein_coding|10/17|c.646-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_033147.3|protein_coding|12/19|c.1258-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_033148.3|protein_coding|11/18|c.1168-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_183360.2|protein_coding|12/19|c.1258-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_183361.2|protein_coding|11/17|c.1168-26dupA||||||,GT|intron_variant|MODIFIER|DTNB|DTNB|transcript|NM_001320936.1|protein_coding|12/18|c.1258-26dupA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1991;p3_1000G_AF=0.397564;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=19142;p3_1000G_EAS_AF=0.5804;p3_1000G_EUR_AF=0.2207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25656889;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,9:20:99:0|1:25434011_C_G:332,0,511
chr2	25929924	rs3731640	G	A	508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.887;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.732;MLEAC=1;MLEAF=0.5;MQ=59.76;MQRankSum=1;QD=10.18;ReadPosRankSum=1.1;SOR=0.334;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731640;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|KIF3C|KIF3C|transcript|NM_002254.6|protein_coding|6/7|c.2115+31C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2187;p3_1000G_AF=0.436701;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=17845;p3_1000G_EAS_AF=0.881;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26152793;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1808,2598;ESP6500_AA_AGE=637.6+/-396.8;ESP6500_AA_GTC=360,1088,755;ESP6500_CDS_SIZES=NM_002254.6:2382;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=61;ESP6500_EA_AC=840,7760;ESP6500_EA_AGE=780.9+/-407.6;ESP6500_EA_GTC=49,742,3509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002254.6:intron;ESP6500_GL=KIF3C;ESP6500_GRCh38_POSITION=2:25929924;ESP6500_GTC=409,1830,4264;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002254.6:c.2115+31C>T;ESP6500_MAF=9.7674,41.035,20.3598;ESP6500_TAC=2648,10358	GT:AD:DP:GQ:PL	0/1:26,24:50:99:537,0,704
chr2	25938357	rs11414608	C	CAA	99.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.199;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.091;SOR=0.495;INS;HET;VARTYPE=INS;dbSNPBuildID=130;ANN=CAA|intron_variant|MODIFIER|KIF3C|KIF3C|transcript|NM_002254.6|protein_coding|5/7|c.2007-8296_2007-8295dupTT||||||	GT:AD:DP:GQ:PL	0/1:7,6:13:99:137,0,252
chr2	26098657	rs11678157	T	C	2007.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=1.078;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11678157;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|RAB10|RAB10|transcript|NM_016131.4|protein_coding|1/5|c.128-5T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3789;p3_1000G_AF=0.756589;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=21173;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.7863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26321526;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2911,1495;ESP6500_AA_AGE=669.0+/-402.1;ESP6500_AA_GTC=954,1003,246;ESP6500_CDS_SIZES=NM_016131.4:603;ESP6500_CG=4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=100;ESP6500_EA_AC=6627,1973;ESP6500_EA_AGE=719.6+/-406.3;ESP6500_EA_GTC=2553,1521,226;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016131.4:intron;ESP6500_GL=RAB10;ESP6500_GRCh38_POSITION=2:26098657;ESP6500_GTC=3507,2524,472;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016131.4:c.128-5T>C;ESP6500_MAF=22.9419,33.931,26.6646;ESP6500_TAC=9538,3468	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2036,195,0
chr2	26127267	rs2289022	G	T	1377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=1.132;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289022;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RAB10|RAB10|transcript|NM_016131.4|protein_coding|4/5|c.417+34G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3935;p3_1000G_AF=0.785743;p3_1000G_AFR_AF=0.6944;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=18363;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26350136;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3148,1258;ESP6500_AA_AGE=426.6+/-341.2;ESP6500_AA_GTC=1125,898,180;ESP6500_CDS_SIZES=NM_016131.4:603;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=6672,1926;ESP6500_EA_AGE=335.4+/-321.4;ESP6500_EA_GTC=2587,1498,214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016131.4:intron;ESP6500_GL=RAB10;ESP6500_GRCh38_POSITION=2:26127267;ESP6500_GTC=3712,2396,394;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_016131.4:c.417+34G>T;ESP6500_MAF=22.4006,28.552,24.4848;ESP6500_TAC=9820,3184	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1406,141,0
chr2	26134879	rs2243834	G	T	1147.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2243834;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RAB10|RAB10|transcript|NM_016131.4|protein_coding|5/5|c.520-59G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3924;p3_1000G_AF=0.783546;p3_1000G_AFR_AF=0.6936;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=19438;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.7853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26357748;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=978,406;ESP6500_AA_GTC=349,280,63;ESP6500_CDS_SIZES=NM_016131.4:603;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=2425,757;ESP6500_EA_GTC=924,577,90;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016131.4:intron;ESP6500_GL=RAB10;ESP6500_GRCh38_POSITION=2:26134879;ESP6500_GTC=1273,857,153;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_016131.4:c.520-59G>T;ESP6500_MAF=23.7901,29.3353,25.4709;ESP6500_TAC=3403,1163	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1176,114,0
chr2	26176345	rs4665830	G	A	1157.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665830;dbSNPBuildID=111;ANN=A|splice_region_variant&synonymous_variant|LOW|GAREM2|GAREM2|transcript|NM_001168241.1|protein_coding|2/6|c.114G>A|p.Gly38Gly|244/4161|114/2625|38/874||,A|upstream_gene_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001191033.1|protein_coding||c.-6127G>A|||||4371|;p3_1000G_AA=G|||;p3_1000G_AC=4065;p3_1000G_AF=0.811701;p3_1000G_AFR_AF=0.9183;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=18259;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26399214;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7618;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1208,176;ESP6500_AA_GTC=526,156,10;ESP6500_CDS_SIZES=NM_001168241.1:2625;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=38;ESP6500_EA_AC=2150,1032;ESP6500_EA_GTC=731,688,172;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001168241.1:coding-synonymous-near-splice;ESP6500_GL=FAM59B;ESP6500_GRCh38_POSITION=2:26176345;ESP6500_GTC=1257,844,182;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001168241.1:c.114G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001168241.1:p.(G38);ESP6500_MAF=32.4324,12.7168,26.4564;ESP6500_TAC=3358,1208	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1186,108,0
chr2	26183092	rs750630201	G	A	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.631;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.973;SOR=1.104;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|missense_variant|MODERATE|GAREM2|GAREM2|transcript|NM_001168241.1|protein_coding|3/6|c.379G>A|p.Val127Ile|509/4161|379/2625|127/874||,A|missense_variant|MODERATE|GAREM2|GAREM2|transcript|NM_001191033.1|protein_coding|2/6|c.148G>A|p.Val50Ile|1904/5157|148/1995|50/664||	GT:AD:DP:GQ:PL	0/1:13,13:26:99:378,0,342
chr2	26183116	rs10779956	A	G	737.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10779956;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001168241.1|protein_coding|3/5|c.384+19A>G||||||,G|intron_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001191033.1|protein_coding|2/5|c.153+19A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4293;p3_1000G_AF=0.857228;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=19825;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.7843;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26405985;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1320,64;ESP6500_AA_GTC=629,62,1;ESP6500_CDS_SIZES=NM_001191033.1:1995,NM_001168241.1:2625;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=76;ESP6500_EA_AC=2462,720;ESP6500_EA_GTC=950,562,79;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001191033.1:intron,NM_001168241.1:intron;ESP6500_GL=FAM59B;ESP6500_GRCh38_POSITION=2:26183116;ESP6500_GTC=1579,624,80;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001191033.1:c.153+19A>G,NM_001168241.1:c.384+19A>G;ESP6500_MAF=22.6273,4.6243,17.1704;ESP6500_TAC=3782,784	GT:AD:DP:GQ:PL	1/1:0,24:24:72:766,72,0
chr2	26185195	rs4665833	T	C	63.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665833;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|GAREM2|GAREM2|transcript|NM_001168241.1|protein_coding|4/6|c.1347T>C|p.Asp449Asp|1477/4161|1347/2625|449/874||,C|synonymous_variant|LOW|GAREM2|GAREM2|transcript|NM_001191033.1|protein_coding|3/6|c.1116T>C|p.Asp372Asp|2872/5157|1116/1995|372/664||;p3_1000G_AA=C|||;p3_1000G_AC=4607;p3_1000G_AF=0.919928;p3_1000G_AFR_AF=0.7897;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=7665;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.9702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26408064;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:91,9,0
chr2	26192224	rs1865323	A	C	291.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs74825771;dbSNPBuildID=92;ANN=C|downstream_gene_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001168241.1|protein_coding||c.*3967A>C|||||2561|,C|downstream_gene_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001191033.1|protein_coding||c.*3967A>C|||||2561|,C|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|18/19|c.2000+86T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1425;p3_1000G_AF=0.284545;p3_1000G_AFR_AF=0.1218;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=17641;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26415093;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:320,24,0
chr2	26192560	rs5001914	A	G	327.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.26;QD=35.92;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5001914;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001168241.1|protein_coding||c.*4303A>G|||||2897|,G|downstream_gene_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001191033.1|protein_coding||c.*4303A>G|||||2897|,G|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|17/19|c.1886-136T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4304;p3_1000G_AF=0.859425;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=16865;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.7913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26415429;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:356,27,0
chr2	26193432	rs7582341	A	G	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.82;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.241;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7582341;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001168241.1|protein_coding||c.*5175A>G|||||3769|,G|downstream_gene_variant|MODIFIER|GAREM2|GAREM2|transcript|NM_001191033.1|protein_coding||c.*5175A>G|||||3769|,G|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|17/19|c.1885+145T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4270;p3_1000G_AF=0.852636;p3_1000G_AFR_AF=0.9599;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=16393;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.7913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26416301;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:144,0,191
chr2	26194664	rs1865324	C	A	757.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.728;SOR=0.999;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1865324;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|15/19|c.1621-26G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4266;p3_1000G_AF=0.851837;p3_1000G_AFR_AF=0.9599;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=20791;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.7913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26417533;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4095,311;ESP6500_AA_AGE=166.5+/-197.7;ESP6500_AA_GTC=1904,287,12;ESP6500_CDS_SIZES=NM_000182.4:2292;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=57;ESP6500_EA_AC=6740,1860;ESP6500_EA_AGE=331.2+/-319.6;ESP6500_EA_GTC=2643,1454,203;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000182.4:intron;ESP6500_GL=HADHA;ESP6500_GRCh38_POSITION=2:26194664;ESP6500_GTC=4547,1741,215;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000182.4:c.1621-26G>T;ESP6500_MAF=21.6279,7.0586,16.6923;ESP6500_TAC=10835,2171	GT:AD:DP:GQ:PL	0/1:22,32:54:99:786,0,455
chr2	26197839	rs13387855	T	G	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=6.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.124;SOR=1.928;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13387855;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|13/19|c.1393-62A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4271;p3_1000G_AF=0.852835;p3_1000G_AFR_AF=0.9607;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=19346;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.7913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26420708;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,11:28:99:313,0,410
chr2	26234399	rs3892649	T	G	339.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.75;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=1.56;SOR=1.532;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3892649;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|4/19|c.315-44A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=708;p3_1000G_AF=0.141374;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=19184;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26457267;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=224,4182;ESP6500_AA_AGE=132.1+/-168.6;ESP6500_AA_GTC=5,214,1984;ESP6500_CDS_SIZES=NM_000182.4:2292;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=38;ESP6500_EA_AC=1862,6738;ESP6500_EA_AGE=326.9+/-317.6;ESP6500_EA_GTC=205,1452,2643;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000182.4:intron;ESP6500_GL=HADHA;ESP6500_GRCh38_POSITION=2:26234399;ESP6500_GTC=210,1666,4627;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000182.4:c.315-44A>C;ESP6500_MAF=21.6512,5.084,16.0388;ESP6500_TAC=2086,10920	GT:AD:DP:GQ:PL	0/1:9,11:20:99:368,0,223
chr2	26238865	rs2303892	C	G	86.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.69;ReadPosRankSum=1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303892;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|3/19|c.180+69G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=714;p3_1000G_AF=0.142572;p3_1000G_AFR_AF=0.0227;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=16535;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26461733;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:29:115,0,29
chr2	26239225	rs12987980	A	T	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.21;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.599;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12987980;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|1/19|c.68-82T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=713;p3_1000G_AF=0.142372;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=17584;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26462093;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:154,0,105
chr2	26244479	rs62128457	C	A	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.931;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.289;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62128457;dbSNPBuildID=129;ANN=A|upstream_gene_variant|MODIFIER|HADHB|HADHB|transcript|NM_000183.2|protein_coding||c.-9776C>A|||||269|,A|upstream_gene_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281512.1|protein_coding||c.-9776C>A|||||269|,A|upstream_gene_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding||c.-16542C>A|||||269|,A|intron_variant|MODIFIER|HADHA|HADHA|transcript|NM_000182.4|protein_coding|1/19|c.67+51G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=737;p3_1000G_AF=0.147165;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=13421;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26467347;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=210,4032;ESP6500_AA_GTC=8,194,1919;ESP6500_CDS_SIZES=NM_000182.4:2292;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=7;ESP6500_EA_AC=1276,6930;ESP6500_EA_GTC=99,1078,2926;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000182.4:intron;ESP6500_GL=HADHA;ESP6500_GRCh38_POSITION=2:26244479;ESP6500_GTC=107,1272,4845;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000182.4:c.67+51G>T;ESP6500_MAF=15.5496,4.9505,11.9377;ESP6500_TAC=1486,10962	GT:AD:DP:GQ:PL	0/1:6,6:12:99:186,0,147
chr2	26254257	rs1064793144;rs3839049;rs147970487;~rs67852333;92600	G	GACT	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=1.022;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59947000,rs147970487,rs3839049;dbSNPBuildID=150,107;ANN=GACT|disruptive_inframe_insertion|MODERATE|HADHB|HADHB|transcript|NM_000183.2|protein_coding|2/16|c.5_7dupCTA|p.Thr2dup|259/2188|8/1425|3/474||INFO_REALIGN_3_PRIME,GACT|disruptive_inframe_insertion|MODERATE|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|2/15|c.5_7dupCTA|p.Thr2dup|259/2143|8/1380|3/459||INFO_REALIGN_3_PRIME,GACT|5_prime_UTR_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|2/17|c.-145_-143dupCTA|||||6759|INFO_REALIGN_3_PRIME;p3_1000G_AC=3553;p3_1000G_AF=0.709465;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=14729;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.9215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26477125;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=INDEL;ESP6500_AA_AC=3760,506;ESP6500_AA_GTC=1661,438,34;ESP6500_CDS_SIZES=NM_000183.2:1425;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=69;ESP6500_EA_AC=7667,581;ESP6500_EA_GTC=3571,525,28;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000183.2:coding;ESP6500_GL=HADHB;ESP6500_GRCh38_POSITION=2:26254257;ESP6500_GTC=5232,963,62;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000183.2:c.3_4insACT;ESP6500_HGVS_PROTEIN_VAR=NM_000183.2:p.(M1_T2insT);ESP6500_MAF=7.0441,11.8612,8.6863;ESP6500_TAC=11427,1087;CLINVAR_ALLELEID=98508;CLINVAR_CLNDISDB=MedGen:C0342786,OMIM:609015,SNOMED_CT:237999008|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Mitochondrial_trifunctional_protein_deficiency|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.26254259_26254261dupCTA;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:497876;CLINVAR_GENEINFO=HADHB:3032;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3839049|1064793144	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0
chr2	26279085	rs7604564	C	A	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.782;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.209;SOR=0.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7604564;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_000183.2|protein_coding|8/15|c.631-50C>A||||||,A|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|7/14|c.586-50C>A||||||,A|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|9/16|c.565-50C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=888;p3_1000G_AF=0.177316;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=18987;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26501953;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=652,3754;ESP6500_AA_AGE=761.1+/-413.0;ESP6500_AA_GTC=51,550,1602;ESP6500_CDS_SIZES=NM_000183.2:1425;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=47;ESP6500_EA_AC=1861,6739;ESP6500_EA_AGE=726.3+/-406.6;ESP6500_EA_GTC=204,1453,2643;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000183.2:intron;ESP6500_GL=HADHB;ESP6500_GRCh38_POSITION=2:26279085;ESP6500_GTC=255,2003,4245;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000183.2:c.631-50C>A;ESP6500_MAF=21.6395,14.798,19.3219;ESP6500_TAC=2513,10493	GT:AD:DP:GQ:PL	0/1:8,7:15:99:199,0,296
chr2	26279900	rs36064164	C	T	55.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36064164;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_000183.2|protein_coding|9/15|c.812-94C>T||||||,T|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|8/14|c.767-94C>T||||||,T|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|10/16|c.746-94C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=729;p3_1000G_AF=0.145567;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=17017;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26502768;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:28:84,0,28
chr2	26280007	rs1056389;335407	T	C	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.71;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=-0.659;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056389;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|HADHB|HADHB|transcript|NM_000183.2|protein_coding|10/16|c.825T>C|p.Val275Val|1076/2188|825/1425|275/474||,C|synonymous_variant|LOW|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|9/15|c.780T>C|p.Val260Val|1031/2143|780/1380|260/459||,C|synonymous_variant|LOW|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|11/17|c.759T>C|p.Val253Val|1159/2271|759/1359|253/452||;p3_1000G_AA=T|||;p3_1000G_AC=729;p3_1000G_AF=0.145567;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=15976;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26502875;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=272,4134;ESP6500_AA_AGE=152.5+/-186.2;ESP6500_AA_GTC=9,254,1940;ESP6500_CDS_SIZES=NM_000183.2:1425;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=82;ESP6500_EA_AC=1861,6739;ESP6500_EA_AGE=332.8+/-320.3;ESP6500_EA_GTC=204,1453,2643;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000183.2:coding-synonymous;ESP6500_GL=HADHB;ESP6500_GRCh38_POSITION=2:26280007;ESP6500_GTC=213,1707,4583;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000183.2:c.825T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000183.2:p.(V275);ESP6500_MAF=21.6395,6.1734,16.4001;ESP6500_TAC=2133,10873;CLINVAR_AF_ESP=0.1640;CLINVAR_AF_EXAC=0.20587;CLINVAR_AF_TGP=0.1456;CLINVAR_ALLELEID=289114;CLINVAR_CLNDISDB=MedGen:C0342786,OMIM:609015,SNOMED_CT:237999008;CLINVAR_CLNDN=Mitochondrial_trifunctional_protein_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.26280007T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53537;CLINVAR_GENEINFO=HADHB:3032;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1056389	GT:AD:DP:GQ:PL	0/1:6,13:19:99:348,0,116
chr2	26282990	rs17528590;137533	A	G	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.442;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=1.32;SOR=0.505;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17528590;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_000183.2|protein_coding|11/15|c.1014-14A>G||||||,G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|10/14|c.969-14A>G||||||,G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|12/16|c.948-14A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=726;p3_1000G_AF=0.144968;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=16734;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26505858;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=259,4147;ESP6500_AA_AGE=147.3+/-181.8;ESP6500_AA_GTC=6,247,1950;ESP6500_CDS_SIZES=NM_000183.2:1425;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=134;ESP6500_EA_AC=1861,6739;ESP6500_EA_AGE=332.5+/-320.1;ESP6500_EA_GTC=205,1451,2644;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000183.2:intron;ESP6500_GL=HADHB;ESP6500_GRCh38_POSITION=2:26282990;ESP6500_GTC=211,1698,4594;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000183.2:c.1014-14A>G;ESP6500_MAF=21.6395,5.8783,16.3002;ESP6500_TAC=2120,10886;CLINVAR_AF_ESP=0.1630;CLINVAR_AF_EXAC=0.20483;CLINVAR_AF_TGP=0.1450;CLINVAR_ALLELEID=141236;CLINVAR_CLNDISDB=MedGen:C0342786,OMIM:609015,SNOMED_CT:237999008;CLINVAR_CLNDN=Mitochondrial_trifunctional_protein_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.26282990A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:252755;CLINVAR_GENEINFO=HADHB:3032;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17528590	GT:AD:DP:GQ:PL	0/1:11,15:26:99:415,0,307
chr2	26284208	rs2303893;92597	A	T	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.801;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.21;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=1.9;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303893;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|HADHB|HADHB|transcript|NM_000183.2|protein_coding|13/15|c.1149+4A>T||||||,T|splice_region_variant&intron_variant|LOW|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|12/14|c.1104+4A>T||||||,T|splice_region_variant&intron_variant|LOW|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|14/16|c.1083+4A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1109;p3_1000G_AF=0.221446;p3_1000G_AFR_AF=0.0227;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=16170;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.0686;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26507076;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=143,4263;ESP6500_AA_AGE=101.2+/-139.8;ESP6500_AA_GTC=1,141,2061;ESP6500_CDS_SIZES=NM_000183.2:1425;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=117;ESP6500_EA_AC=529,8071;ESP6500_EA_AGE=148.3+/-203.6;ESP6500_EA_GTC=21,487,3792;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000183.2:intron;ESP6500_GL=HADHB;ESP6500_GRCh38_POSITION=2:26284208;ESP6500_GTC=22,628,5853;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_000183.2:c.1149+4A>T;ESP6500_MAF=6.1512,3.2456,5.1668;ESP6500_TAC=672,12334;CLINVAR_AF_ESP=0.0517;CLINVAR_AF_EXAC=0.13787;CLINVAR_AF_TGP=0.2215;CLINVAR_ALLELEID=98505;CLINVAR_CLNDISDB=MedGen:C0342786,OMIM:609015,SNOMED_CT:237999008|MedGen:CN169374;CLINVAR_CLNDN=Mitochondrial_trifunctional_protein_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.26284208A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24175;CLINVAR_GENEINFO=HADHB:3032;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303893	GT:AD:DP:GQ:PL	0/1:25,16:41:99:293,0,643
chr2	26284856	rs17528653	T	C	55.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.703;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=0.489;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17528653;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_000183.2|protein_coding|13/15|c.1150-27T>C||||||,C|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|12/14|c.1105-27T>C||||||,C|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|14/16|c.1084-27T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=727;p3_1000G_AF=0.145168;p3_1000G_AFR_AF=0.0265;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=15296;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26507724;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=259,4147;ESP6500_AA_AGE=146.5+/-181.1;ESP6500_AA_GTC=6,247,1950;ESP6500_CDS_SIZES=NM_000183.2:1425;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=167;ESP6500_EA_AC=1859,6741;ESP6500_EA_AGE=331.2+/-319.6;ESP6500_EA_GTC=204,1451,2645;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000183.2:intron;ESP6500_GL=HADHB;ESP6500_GRCh38_POSITION=2:26284856;ESP6500_GTC=210,1698,4595;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000183.2:c.1150-27T>C;ESP6500_MAF=21.6163,5.8783,16.2848;ESP6500_TAC=2118,10888	GT:AD:DP:GQ:PL	0/1:5,3:8:84:84,0,112
chr2	26285319	rs2303894	A	G	820.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.417;SOR=0.745;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303894;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_000183.2|protein_coding|14/15|c.1225-88A>G||||||,G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|13/14|c.1180-88A>G||||||,G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|15/16|c.1159-88A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=732;p3_1000G_AF=0.146166;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=17196;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26508187;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,30:52:99:849,0,533
chr2	26289865	rs1056632	T	G	231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.524;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=6.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.503;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056632;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_000183.2|protein_coding|15/15|c.1390-53T>G||||||,G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|14/14|c.1345-53T>G||||||,G|intron_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|16/16|c.1324-53T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=738;p3_1000G_AF=0.147364;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=19061;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26512733;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=81,1303;ESP6500_AA_GTC=2,77,613;ESP6500_CDS_SIZES=NM_000183.2:1425;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=133;ESP6500_EA_AC=698,2484;ESP6500_EA_GTC=76,546,969;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000183.2:intron;ESP6500_GL=HADHB;ESP6500_GRCh38_POSITION=2:26289865;ESP6500_GTC=78,623,1582;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000183.2:c.1390-53T>G;ESP6500_MAF=21.9359,5.8526,17.0609;ESP6500_TAC=779,3787	GT:AD:DP:GQ:PL	0/1:38,15:53:99:260,0,1041
chr2	26290089	rs1056471;335410	G	C	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=2.23;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056471;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|HADHB|HADHB|transcript|NM_000183.2|protein_coding|16/16|c.*136G>C|||||136|,C|3_prime_UTR_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281512.1|protein_coding|15/15|c.*136G>C|||||136|,C|3_prime_UTR_variant|MODIFIER|HADHB|HADHB|transcript|NM_001281513.1|protein_coding|17/17|c.*136G>C|||||136|;p3_1000G_AA=C|||;p3_1000G_AC=3561;p3_1000G_AF=0.711062;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=20590;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.9215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26512957;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP;CLINVAR_ALLELEID=289128;CLINVAR_CLNDISDB=MedGen:C0342786,OMIM:609015,SNOMED_CT:237999008;CLINVAR_CLNDN=Mitochondrial_trifunctional_protein_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.26290089G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24155;CLINVAR_GENEINFO=HADHB:3032;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1056471	GT:AD:DP:GQ:PL	0/1:8,8:16:99:292,0,283
chr2	26313431	rs11886746	C	G	983.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11886746;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|ADGRF3|ADGRF3|transcript|NM_001145168.1|protein_coding|9/13|c.1419G>C|p.Pro473Pro|1419/3240|1419/3240|473/1079||,G|synonymous_variant|LOW|ADGRF3|ADGRF3|transcript|NM_001145169.1|protein_coding|8/13|c.1212G>C|p.Pro404Pro|1265/4396|1212/2994|404/997||,G|synonymous_variant|LOW|ADGRF3|ADGRF3|transcript|NM_001321975.1|protein_coding|9/15|c.228G>C|p.Pro76Pro|1339/4052|228/2028|76/675||,G|synonymous_variant|LOW|ADGRF3|ADGRF3|transcript|NM_001321971.1|protein_coding|8/14|c.1215G>C|p.Pro405Pro|1798/4511|1215/3015|405/1004||,G|synonymous_variant|LOW|ADGRF3|ADGRF3|transcript|NM_153835.3|protein_coding|6/12|c.822G>C|p.Pro274Pro|1405/4118|822/2622|274/873||,G|non_coding_transcript_exon_variant|MODIFIER|ADGRF3|ADGRF3|transcript|NR_135916.1|pseudogene|6/13|n.1405G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=2002;p3_1000G_AF=0.39976;p3_1000G_AFR_AF=0.4856;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18410;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26536299;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2072,2334;ESP6500_AA_GTC=494,1084,625;ESP6500_CDS_SIZES=NM_153835.3:2622,NM_001145169.1:2994,NM_001145168.1:3240;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=30;ESP6500_EA_AC=2780,5820;ESP6500_EA_GTC=446,1888,1966;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153835.3:coding-synonymous,NM_001145169.1:coding-synonymous,NM_001145168.1:coding-synonymous;ESP6500_GL=GPR113;ESP6500_GRCh38_POSITION=2:26313431;ESP6500_GTC=940,2972,2591;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153835.3:c.822G>C,NM_001145169.1:c.1212G>C,NM_001145168.1:c.1419G>C;ESP6500_HGVS_PROTEIN_VAR=NM_153835.3:p.(P274),NM_001145169.1:p.(P404),NM_001145168.1:p.(P473);ESP6500_MAF=32.3256,47.0268,37.3059;ESP6500_TAC=4852,8154	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1012,99,0
chr2	26314631	rs10187359	A	C	824.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10187359;dbSNPBuildID=119;ANN=C|splice_region_variant&intron_variant|LOW|ADGRF3|ADGRF3|transcript|NM_001145168.1|protein_coding|6/12|c.923-8T>G||||||,C|splice_region_variant&intron_variant|LOW|ADGRF3|ADGRF3|transcript|NM_001145169.1|protein_coding|5/12|c.716-8T>G||||||,C|splice_region_variant&intron_variant|LOW|ADGRF3|ADGRF3|transcript|NM_001321971.1|protein_coding|5/13|c.719-8T>G||||||,C|splice_region_variant&intron_variant|LOW|ADGRF3|ADGRF3|transcript|NM_153835.3|protein_coding|3/11|c.326-8T>G||||||,C|splice_region_variant&intron_variant|LOW|ADGRF3|ADGRF3|transcript|NR_135916.1|pseudogene|3/12|n.909-8T>G||||||,C|5_prime_UTR_variant|MODIFIER|ADGRF3|ADGRF3|transcript|NM_001321975.1|protein_coding|6/15|c.-173T>G|||||787|;p3_1000G_AA=C|||;p3_1000G_AC=4592;p3_1000G_AF=0.916933;p3_1000G_AFR_AF=0.879;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=20253;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.9791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26537499;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3889,517;ESP6500_AA_AGE=235.2+/-247.8;ESP6500_AA_GTC=1724,441,38;ESP6500_CDS_SIZES=NM_153835.3:2622,NM_001145169.1:2994,NM_001145168.1:3240;ESP6500_CG=2.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=73;ESP6500_EA_AC=8436,164;ESP6500_EA_AGE=77.8+/-140.4;ESP6500_EA_GTC=4137,162,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153835.3:intron,NM_001145169.1:intron,NM_001145168.1:intron;ESP6500_GL=GPR113;ESP6500_GRCh38_POSITION=2:26314631;ESP6500_GTC=5861,603,39;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_153835.3:c.326-8T>G,NM_001145169.1:c.716-8T>G,NM_001145168.1:c.923-8T>G;ESP6500_MAF=1.907,11.734,5.236;ESP6500_TAC=12325,681	GT:AD:DP:GQ:PL	1/1:0,25:25:75:853,75,0
chr2	26364208	rs11674089	G	A	401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11674089;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|EPT1|EPT1|transcript|NM_033505.3|protein_coding|1/9|c.58-94G>A||||||,A|intron_variant|MODIFIER|EPT1|EPT1|transcript|NR_137633.1|pseudogene|1/9|n.205-94G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1275;p3_1000G_AF=0.254593;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=16232;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26587076;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:430,39,0
chr2	26367216	rs6748996	T	G	847.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6748996;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|EPT1|EPT1|transcript|NM_033505.3|protein_coding|4/10|c.306T>G|p.Thr102Thr|453/8129|306/1194|102/397||,G|non_coding_transcript_exon_variant|MODIFIER|EPT1|EPT1|transcript|NR_137633.1|pseudogene|4/10|n.453T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1273;p3_1000G_AF=0.254193;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=19366;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26590084;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=467,3385;ESP6500_AA_GTC=31,405,1490;ESP6500_CDS_SIZES=NM_033505.2:1194;ESP6500_CG=-1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=77;ESP6500_EA_AC=2931,5359;ESP6500_EA_GTC=494,1943,1708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033505.2:coding-synonymous;ESP6500_GL=EPT1;ESP6500_GRCh38_POSITION=2:26367216;ESP6500_GTC=525,2348,3198;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_033505.2:c.306T>G;ESP6500_HGVS_PROTEIN_VAR=NM_033505.2:p.(T102);ESP6500_MAF=35.3559,12.1236,27.9855;ESP6500_TAC=3398,8744	GT:AD:DP:GQ:PL	1/1:0,27:27:81:876,81,0
chr2	26367250	rs6731447	C	T	644.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.03;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6731447;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|EPT1|EPT1|transcript|NM_033505.3|protein_coding|4/9|c.310+30C>T||||||,T|intron_variant|MODIFIER|EPT1|EPT1|transcript|NR_137633.1|pseudogene|4/9|n.457+30C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1271;p3_1000G_AF=0.253794;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=19386;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26590118;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=456,3340;ESP6500_AA_GTC=30,396,1472;ESP6500_CDS_SIZES=NM_033505.2:1194;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=2922,5338;ESP6500_EA_GTC=493,1936,1701;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033505.2:intron;ESP6500_GL=EPT1;ESP6500_GRCh38_POSITION=2:26367250;ESP6500_GTC=523,2332,3173;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033505.2:c.310+30C>T;ESP6500_MAF=35.3753,12.0126,28.0192;ESP6500_TAC=3378,8678	GT:AD:DP:GQ:PL	1/1:0,23:23:69:673,69,0
chr2	26385124	rs934280	T	C	235.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs934280;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|EPT1|EPT1|transcript|NM_033505.3|protein_coding|8/10|c.897T>C|p.Ala299Ala|1044/8129|897/1194|299/397||,C|non_coding_transcript_exon_variant|MODIFIER|EPT1|EPT1|transcript|NR_137633.1|pseudogene|8/10|n.952T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4703;p3_1000G_AF=0.939097;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=13633;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.9702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26607992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3310,316;ESP6500_AA_GTC=1518,274,21;ESP6500_CDS_SIZES=NM_033505.2:1194;ESP6500_CG=-0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=7899,243;ESP6500_EA_GTC=3835,229,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033505.2:coding-synonymous;ESP6500_GL=EPT1;ESP6500_GRCh38_POSITION=2:26385124;ESP6500_GTC=5353,503,28;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033505.2:c.897T>C;ESP6500_HGVS_PROTEIN_VAR=NM_033505.2:p.(A299);ESP6500_MAF=2.9845,8.7148,4.7502;ESP6500_TAC=11209,559	GT:AD:DP:GQ:PL	1/1:0,8:8:24:264,24,0
chr2	26386601	rs7585892	G	A	293.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7585892;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|EPT1|EPT1|transcript|NM_033505.3|protein_coding|9/9|c.1095+65G>A||||||,A|intron_variant|MODIFIER|EPT1|EPT1|transcript|NR_137633.1|pseudogene|9/9|n.1150+65G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1220;p3_1000G_AF=0.24361;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=16922;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26609469;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:322,30,0
chr2	26414200	rs1344734	C	T	160.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1344734;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|DRC1|DRC1|transcript|NM_145038.4|protein_coding|1/16|c.156-144C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1408;p3_1000G_AF=0.28115;p3_1000G_AFR_AF=0.1959;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=12589;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26637068;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:189,15,0
chr2	26424409	rs7423300;262566	T	G	1093.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7423300;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|DRC1|DRC1|transcript|NM_145038.4|protein_coding|4/17|c.495T>G|p.Ala165Ala|573/2495|495/2223|165/740||;p3_1000G_AA=T|||;p3_1000G_AC=3122;p3_1000G_AF=0.623403;p3_1000G_AFR_AF=0.5144;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=16427;p3_1000G_EAS_AF=0.3323;p3_1000G_EUR_AF=0.8817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26647277;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7812;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2561,1845;ESP6500_AA_AGE=632.8+/-395.9;ESP6500_AA_GTC=744,1073,386;ESP6500_CDS_SIZES=NM_145038.2:2223;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=69;ESP6500_EA_AC=7658,942;ESP6500_EA_AGE=775.6+/-407.7;ESP6500_EA_GTC=3408,842,50;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145038.2:coding-synonymous;ESP6500_GL=CCDC164;ESP6500_GRCh38_POSITION=2:26424409;ESP6500_GTC=4152,1915,436;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_145038.2:c.495T>G;ESP6500_HGVS_PROTEIN_VAR=NM_145038.2:p.(A165);ESP6500_MAF=10.9535,41.8747,21.4286;ESP6500_TAC=10219,2787;CLINVAR_ALLELEID=250699;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.26424409T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DRC1:92749;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7423300	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1122,105,0
chr2	26429803	rs4356622	A	G	605.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4356622;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|DRC1|DRC1|transcript|NM_145038.4|protein_coding|5/16|c.678+38A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=16498;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.9135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26652671;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3915,491;ESP6500_AA_AGE=203.5+/-225.9;ESP6500_AA_GTC=1750,415,38;ESP6500_CDS_SIZES=NM_145038.2:2223;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=38;ESP6500_EA_AC=7919,681;ESP6500_EA_AGE=155.4+/-209.4;ESP6500_EA_GTC=3657,605,38;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145038.2:intron;ESP6500_GL=CCDC164;ESP6500_GRCh38_POSITION=2:26429803;ESP6500_GTC=5407,1020,76;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145038.2:c.678+38A>G;ESP6500_MAF=7.9186,11.1439,9.0112;ESP6500_TAC=11834,1172	GT:AD:DP:GQ:PL	1/1:0,17:17:51:634,51,0
chr2	26440319	rs138497746	T	TTG	207.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.94;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNPBuildID=134;ANN=TTG|intron_variant|MODIFIER|DRC1|DRC1|transcript|NM_145038.4|protein_coding|7/16|c.889-33_889-32dupGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,5:5:18:229,18,0
chr2	26440347	rs56218945	A	G	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=5.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=0;SOR=3.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56218945;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|DRC1|DRC1|transcript|NM_145038.4|protein_coding|7/16|c.889-31A>G||||||;ESP6500_AA=A;ESP6500_AA_AC=258,3664;ESP6500_AA_GTC=7,244,1710;ESP6500_CDS_SIZES=NM_145038.2:2223;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=7;ESP6500_EA_AC=1502,6854;ESP6500_EA_GTC=82,1338,2758;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145038.2:intron;ESP6500_GL=CCDC164;ESP6500_GRCh38_POSITION=2:26440347;ESP6500_GTC=89,1582,4468;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145038.2:c.889-31A>G;ESP6500_MAF=17.9751,6.5783,14.3346;ESP6500_TAC=1760,10518	GT:AD:DP:GQ:PL	0/1:2,5:7:41:165,0,41
chr2	26444262	rs3795958;402796	A	G	1432.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795958;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|DRC1|DRC1|transcript|NM_145038.4|protein_coding|9/17|c.1069A>G|p.Lys357Glu|1147/2495|1069/2223|357/740||;p3_1000G_AA=A|||;p3_1000G_AC=807;p3_1000G_AF=0.161142;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=23665;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.1918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26667130;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=156,4250;ESP6500_AA_AGE=106.0+/-144.5;ESP6500_AA_GTC=1,154,2048;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...23319000;ESP6500_CDS_SIZES=NM_145038.2:2223;ESP6500_CG=4.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=104;ESP6500_EA_AC=1473,7127;ESP6500_EA_AGE=280.9+/-294.7;ESP6500_EA_GTC=133,1207,2960;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145038.2:missense;ESP6500_GL=CCDC164;ESP6500_GRCh38_POSITION=2:26444262;ESP6500_GS=56;ESP6500_GTC=134,1361,5008;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23319000;ESP6500_HGVS_CDNA_VAR=NM_145038.2:c.1069A>G;ESP6500_HGVS_PROTEIN_VAR=NM_145038.2:p.(K357E);ESP6500_MAF=17.1279,3.5406,12.525;ESP6500_PH=possibly-damaging:0.921;ESP6500_TAC=1629,11377;CLINVAR_ALLELEID=389516;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.26444262A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DRC1:92749;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3795958	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1461,135,0
chr2	26444747	rs939820;262564	T	C	1233.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=0.741;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs373268097,rs939820;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|DRC1|DRC1|transcript|NM_145038.4|protein_coding|10/17|c.1195T>C|p.Trp399Arg|1273/2495|1195/2223|399/740||;p3_1000G_AA=C|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19449;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26667615;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4380,26;ESP6500_AA_AGE=32.6+/-62.9;ESP6500_AA_GTC=2177,26,0;ESP6500_CDS_SIZES=NM_145038.2:2223;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=77;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145038.2:missense;ESP6500_GL=CCDC164;ESP6500_GRCh38_POSITION=2:26444747;ESP6500_GS=101;ESP6500_GTC=6477,26,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145038.2:c.1195T>C;ESP6500_HGVS_PROTEIN_VAR=NM_145038.2:p.(W399R);ESP6500_MAF=0.0,0.5901,0.1999;ESP6500_PH=benign:0.0;ESP6500_TAC=12980,26;CLINVAR_ALLELEID=250700;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.26444747T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q96MC2#VAR_030626;CLINVAR_GENEINFO=DRC1:92749;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=939820	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1262,123,0
chr2	26448676	rs4072407;262565	A	G	352.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.14;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4072407;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|DRC1|DRC1|transcript|NM_145038.4|protein_coding|10/16|c.1397-15A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2656;p3_1000G_AF=0.530351;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=18154;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.8151;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26671544;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1722,2684;ESP6500_AA_AGE=509.8+/-367.3;ESP6500_AA_GTC=361,1000,842;ESP6500_CDS_SIZES=NM_145038.2:2223;ESP6500_CG=-11.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=44;ESP6500_EA_AC=7102,1498;ESP6500_EA_AGE=739.8+/-407.1;ESP6500_EA_GTC=2944,1214,142;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145038.2:intron;ESP6500_GL=CCDC164;ESP6500_GRCh38_POSITION=2:26448676;ESP6500_GTC=3305,2214,984;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145038.2:c.1397-15A>G;ESP6500_MAF=17.4186,39.0831,32.1544;ESP6500_TAC=8824,4182;CLINVAR_ALLELEID=250701;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.26448676A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DRC1:92749;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4072407	GT:AD:DP:GQ:PL	1/1:0,13:13:39:381,39,0
chr2	26454942	rs2280516	A	G	863.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2280516;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding||c.*3098T>C|||||2261|,G|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_004802.3|protein_coding||c.*5083T>C|||||2261|,G|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_194322.2|protein_coding||c.*5083T>C|||||2261|,G|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_194323.2|protein_coding||c.*3098T>C|||||2261|,G|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding||c.*5083T>C|||||2261|,G|intron_variant|MODIFIER|DRC1|DRC1|transcript|NM_145038.4|protein_coding|15/16|c.2063+152A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2817;p3_1000G_AF=0.5625;p3_1000G_AFR_AF=0.4009;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=17760;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.8151;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26677810;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7689;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:72:1|1:26454942_A_G:892,72,0
chr2	26455214	rs115095929;414292	A	C	512.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.956;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-1.067;SOR=0.705;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115095929;dbSNPBuildID=132;ANN=C|missense_variant|MODERATE|DRC1|DRC1|transcript|NM_145038.4|protein_coding|16/17|c.2147A>C|p.Gln716Pro|2225/2495|2147/2223|716/740||,C|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding||c.*2826T>G|||||1989|,C|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_004802.3|protein_coding||c.*4811T>G|||||1989|,C|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_194322.2|protein_coding||c.*4811T>G|||||1989|,C|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_194323.2|protein_coding||c.*2826T>G|||||1989|,C|downstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding||c.*4811T>G|||||1989|;p3_1000G_AA=A|||;p3_1000G_AC=128;p3_1000G_AF=0.0255591;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=16902;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26678082;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=18,4388;ESP6500_AA_AGE=24.3+/-50.5;ESP6500_AA_GTC=0,18,2185;ESP6500_CDS_SIZES=NM_145038.2:2223;ESP6500_CG=4.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=59;ESP6500_EA_AC=26,8574;ESP6500_EA_AGE=19.2+/-60.6;ESP6500_EA_GTC=0,26,4274;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145038.2:missense;ESP6500_GL=CCDC164;ESP6500_GRCh38_POSITION=2:26455214;ESP6500_GS=76;ESP6500_GTC=0,44,6459;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_145038.2:c.2147A>C;ESP6500_HGVS_PROTEIN_VAR=NM_145038.2:p.(Q716P);ESP6500_MAF=0.3023,0.4085,0.3383;ESP6500_PH=probably-damaging:0.984;ESP6500_TAC=44,12962;CLINVAR_ALLELEID=392862;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244;CLINVAR_CLNDN=Ciliary_dyskinesia;CLINVAR_CLNHGVS=NC_000002.12:g.26455214A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DRC1:92749;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=115095929	GT:AD:DP:GQ:PL	0/1:15,22:37:99:541,0,383
chr2	26465704	rs80356578;21854	G	A	1119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.205;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=7.4;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.58;SOR=1.484;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80356578;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|38/46|c.4767C>T|p.Arg1589Arg|4894/6958|4767/5994|1589/1997||,A|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_004802.3|protein_coding|21/30|c.2466C>T|p.Arg822Arg|2692/4954|2466/3693|822/1230||,A|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194322.2|protein_coding|20/29|c.2697C>T|p.Arg899Arg|2846/5108|2697/3924|899/1307||,A|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194323.2|protein_coding|21/29|c.2466C>T|p.Arg822Arg|2692/4756|2466/3693|822/1230||,A|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194248.2|protein_coding|38/47|c.4767C>T|p.Arg1589Arg|4894/7156|4767/5994|1589/1997||;p3_1000G_AA=G|||;p3_1000G_AC=124;p3_1000G_AF=0.0247604;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=18385;p3_1000G_EAS_AF=0.0476;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26688572;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=16,4390;ESP6500_AA_AGE=23.3+/-48.9;ESP6500_AA_GTC=0,16,2187;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...9381&amp%3Brs...80356578;ESP6500_CDS_SIZES=NM_194323.2:3693,NM_194322.2:3924,NM_194248.2:5994,NM_004802.3:3693;ESP6500_CG=-10.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=119;ESP6500_EA_AC=28,8572;ESP6500_EA_AGE=20.4+/-63.3;ESP6500_EA_GTC=0,28,4272;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194323.2:coding-synonymous,NM_194322.2:coding-synonymous,NM_194248.2:coding-synonymous,NM_004802.3:coding-synonymous;ESP6500_GL=OTOF;ESP6500_GRCh38_POSITION=2:26465704;ESP6500_GTC=0,44,6459;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_194323.2:c.2466C>T,NM_194322.2:c.2697C>T,NM_194248.2:c.4767C>T,NM_004802.3:c.2466C>T;ESP6500_HGVS_PROTEIN_VAR=NM_194323.2:p.(R822),NM_194322.2:p.(R899),NM_194248.2:p.(R1589),NM_004802.3:p.(R822);ESP6500_MAF=0.3256,0.3631,0.3383;ESP6500_TAC=44,12962;CLINVAR_AF_ESP=0.0034;CLINVAR_AF_EXAC=0.02459;CLINVAR_AF_TGP=0.0248;CLINVAR_ALLELEID=34706;CLINVAR_CLNDISDB=MedGen:C1832828,OMIM:601071|MedGen:CN169374|MedGen:CN239439;CLINVAR_CLNDN=Deafness,_autosomal_recessive_9|not_specified|Nonsyndromic_Hearing_Loss,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.26465704G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:69734;CLINVAR_GENEINFO=OTOF:9381;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=80356578	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1148,0,1137
chr2	26475814	rs6712188	G	T	226.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6712188;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|24/45|c.2991+100C>A||||||,T|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_004802.3|protein_coding|7/29|c.750+100C>A||||||,T|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194322.2|protein_coding|6/28|c.921+100C>A||||||,T|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194323.2|protein_coding|7/28|c.750+100C>A||||||,T|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|24/46|c.2991+100C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2484;p3_1000G_AF=0.496006;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=15556;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.4195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26698682;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:255,21,0
chr2	26476258	rs4335905;21839	C	G	1173.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4335905;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|23/46|c.2736G>C|p.Leu912Leu|2863/6958|2736/5994|912/1997||,G|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_004802.3|protein_coding|6/30|c.495G>C|p.Leu165Leu|721/4954|495/3693|165/1230||,G|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194322.2|protein_coding|5/29|c.666G>C|p.Leu222Leu|815/5108|666/3924|222/1307||,G|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194323.2|protein_coding|6/29|c.495G>C|p.Leu165Leu|721/4756|495/3693|165/1230||,G|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194248.2|protein_coding|23/47|c.2736G>C|p.Leu912Leu|2863/7156|2736/5994|912/1997||;p3_1000G_AA=G|||;p3_1000G_AC=3545;p3_1000G_AF=0.707867;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=7877;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.4722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26699126;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3117,1283;ESP6500_AA_AGE=406.2+/-333.8;ESP6500_AA_GTC=1107,903,190;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...9381&amp%3Brs...4335905;ESP6500_CDS_SIZES=NM_194323.2:3693,NM_194322.2:3924,NM_194248.2:5994,NM_004802.3:3693;ESP6500_CG=-4.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=39;ESP6500_EA_AC=3765,4825;ESP6500_EA_AGE=588.4+/-392.4;ESP6500_EA_GTC=806,2153,1336;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194323.2:coding-synonymous,NM_194322.2:coding-synonymous,NM_194248.2:coding-synonymous,NM_004802.3:coding-synonymous;ESP6500_GL=OTOF;ESP6500_GRCh38_POSITION=2:26476258;ESP6500_GTC=1913,3056,1526;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_194323.2:c.495G>C,NM_194322.2:c.666G>C,NM_194248.2:c.2736G>C,NM_004802.3:c.495G>C;ESP6500_HGVS_PROTEIN_VAR=NM_194323.2:p.(L165),NM_194322.2:p.(L222),NM_194248.2:p.(L912),NM_004802.3:p.(L165);ESP6500_MAF=43.83,29.1591,47.0208;ESP6500_TAC=6882,6108;CLINVAR_ALLELEID=34691;CLINVAR_CLNDISDB=MedGen:C1832828,OMIM:601071|MedGen:CN169374|MedGen:CN239439;CLINVAR_CLNDN=Deafness,_autosomal_recessive_9|not_specified|Nonsyndromic_Hearing_Loss,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.26476258C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53403;CLINVAR_GENEINFO=OTOF:9381;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4335905	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1202,105,0
chr2	26476987	rs2272069;21838	G	C	2572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=0.719;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272069;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|22/46|c.2580C>G|p.Val860Val|2707/6958|2580/5994|860/1997||,C|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_004802.3|protein_coding|5/30|c.339C>G|p.Val113Val|565/4954|339/3693|113/1230||,C|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194322.2|protein_coding|4/29|c.510C>G|p.Val170Val|659/5108|510/3924|170/1307||,C|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194323.2|protein_coding|5/29|c.339C>G|p.Val113Val|565/4756|339/3693|113/1230||,C|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194248.2|protein_coding|22/47|c.2580C>G|p.Val860Val|2707/7156|2580/5994|860/1997||;p3_1000G_AA=G|||;p3_1000G_AC=2512;p3_1000G_AF=0.501597;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=7767;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26699855;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1188,3192;ESP6500_AA_AGE=408.9+/-334.8;ESP6500_AA_GTC=169,850,1171;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...9381&amp%3Brs...2272069;ESP6500_CDS_SIZES=NM_194323.2:3693,NM_194322.2:3924,NM_194248.2:5994,NM_004802.3:3693;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=60;ESP6500_EA_AC=3269,5315;ESP6500_EA_AGE=486.2+/-371.8;ESP6500_EA_GTC=600,2069,1623;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194323.2:coding-synonymous,NM_194322.2:coding-synonymous,NM_194248.2:coding-synonymous,NM_004802.3:coding-synonymous;ESP6500_GL=OTOF;ESP6500_GRCh38_POSITION=2:26476987;ESP6500_GTC=769,2919,2794;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_194323.2:c.339C>G,NM_194322.2:c.510C>G,NM_194248.2:c.2580C>G,NM_004802.3:c.339C>G;ESP6500_HGVS_PROTEIN_VAR=NM_194323.2:p.(V113),NM_194322.2:p.(V170),NM_194248.2:p.(V860),NM_004802.3:p.(V113);ESP6500_MAF=38.0825,27.1233,34.3798;ESP6500_TAC=4457,8507;CLINVAR_AF_ESP=0.3438;CLINVAR_AF_EXAC=0.47402;CLINVAR_ALLELEID=34690;CLINVAR_CLNDISDB=MedGen:C1832828,OMIM:601071|MedGen:CN169374|MedGen:CN239439;CLINVAR_CLNDN=Deafness,_autosomal_recessive_9|not_specified|Nonsyndromic_Hearing_Loss,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.26476987G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24160;CLINVAR_GENEINFO=OTOF:9381;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2272069	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2601,231,0
chr2	26477832	rs4665855;48191	G	A	2207.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.745;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665855;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|OTOF|OTOF|transcript|NM_194322.2|protein_coding|1/29|c.62C>T|p.Pro21Leu|211/5108|62/3924|21/1307||,A|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|18/45|c.2215-83C>T||||||,A|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_004802.3|protein_coding|1/29|c.-28+12C>T||||||,A|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194323.2|protein_coding|1/28|c.-28+12C>T||||||,A|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|18/46|c.2215-83C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3018;p3_1000G_AF=0.602636;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=18953;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26700700;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1167,1487;ESP6500_AA_GTC=265,637,425;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...9381&amp%3Brs...4665855;ESP6500_CDS_SIZES=NM_194323.2:3693,NM_194322.2:3924,NM_194248.2:5994,NM_004802.3:3693;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=50;ESP6500_EA_AC=1821,2795;ESP6500_EA_GTC=348,1125,835;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194323.2:intron,NM_194322.2:missense,NM_194248.2:intron,NM_004802.3:intron;ESP6500_GL=OTOF;ESP6500_GRCh38_POSITION=2:26477832;ESP6500_GS=.,98,.,.;ESP6500_GTC=613,1762,1260;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_194323.2:c.-110C>T,NM_194322.2:c.62C>T,NM_194248.2:c.2215-83C>T,NM_004802.3:c.-110C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_194322.2:p.(P21L),.,.;ESP6500_MAF=39.4497,43.9714,41.1004;ESP6500_PH=.,benign:0.0,.,.;ESP6500_TAC=2988,4282;CLINVAR_AF_ESP=0.4110;CLINVAR_ALLELEID=57355;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.26477832G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=OTOF:9381;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4665855	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2236,213,0
chr2	26477951	rs55806442;rs796369236	TGG	T	807.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55806442;dbSNPBuildID=129,146;ANN=T|5_prime_UTR_variant|MODIFIER|OTOF|OTOF|transcript|NM_004802.3|protein_coding|1/30|c.-137_-136delCC|||||230|,T|5_prime_UTR_variant|MODIFIER|OTOF|OTOF|transcript|NM_194322.2|protein_coding|1/29|c.-60_-59delCC|||||59|,T|5_prime_UTR_variant|MODIFIER|OTOF|OTOF|transcript|NM_194323.2|protein_coding|1/29|c.-137_-136delCC|||||230|,T|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|18/45|c.2215-204_2215-203delCC||||||,T|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|18/46|c.2215-204_2215-203delCC||||||;p3_1000G_AC=3629;p3_1000G_AF=0.724641;p3_1000G_AFR_AF=0.8245;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=20867;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.4801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26700819;p3_1000G_GRCH37_REF=TGG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,19:19:57:845,57,0
chr2	26479189	rs10714255	GT	G	634.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10714255;dbSNPBuildID=131;ANN=G|upstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_004802.3|protein_coding||c.-1468delA|||||1148|,G|upstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_194322.2|protein_coding||c.-1297delA|||||1148|,G|upstream_gene_variant|MODIFIER|OTOF|OTOF|transcript|NM_194323.2|protein_coding||c.-1468delA|||||1148|,G|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|18/45|c.2214+74delA||||||,G|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|18/46|c.2214+74delA||||||;p3_1000G_AA=TT|TT|T|deletion;p3_1000G_AC=2708;p3_1000G_AF=0.540735;p3_1000G_AFR_AF=0.3979;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=15377;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.4274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26702057;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:672,54,0
chr2	26483774	rs4665328	T	C	672.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665328;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|12/45|c.1206-126A>G||||||,C|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|12/46|c.1206-126A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2884;p3_1000G_AF=0.575879;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=17539;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26706642;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:701,51,0
chr2	26489537	rs41288775	G	C	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.376;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.523;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.436;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41288775;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|10/45|c.960+141C>G||||||,C|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|10/46|c.960+141C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=143;p3_1000G_AF=0.0285543;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=17708;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.0338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26712405;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:169,0,418
chr2	26501857	rs6547079	T	G	1332.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6547079;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|7/45|c.711-49A>C||||||,G|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|7/46|c.711-49A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3507;p3_1000G_AF=0.70028;p3_1000G_AFR_AF=0.8238;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=18710;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.5934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26724725;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3461,945;ESP6500_AA_AGE=331.0+/-301.8;ESP6500_AA_GTC=1371,719,113;ESP6500_CDS_SIZES=NM_194248.2:5994;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=45;ESP6500_EA_AC=4730,3870;ESP6500_EA_AGE=511.4+/-377.7;ESP6500_EA_GTC=1290,2150,860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194248.2:intron;ESP6500_GL=OTOF;ESP6500_GRCh38_POSITION=2:26501857;ESP6500_GTC=2661,2869,973;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_194248.2:c.711-49A>C;ESP6500_MAF=45.0,21.448,37.0214;ESP6500_TAC=8191,4815	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,37:37:99:1|1:26501857_T_G:1361,111,0
chr2	26503884	rs884390	G	A	554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs884390;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|5/45|c.510-39C>T||||||,A|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|5/46|c.510-39C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1501;p3_1000G_AF=0.29972;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=18188;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26726752;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=577,3829;ESP6500_AA_AGE=252.7+/-259.0;ESP6500_AA_GTC=41,495,1667;ESP6500_CDS_SIZES=NM_194248.2:5994;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=47;ESP6500_EA_AC=3315,5285;ESP6500_EA_AGE=492.5+/-373.3;ESP6500_EA_GTC=620,2075,1605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194248.2:intron;ESP6500_GL=OTOF;ESP6500_GRCh38_POSITION=2:26503884;ESP6500_GTC=661,2570,3272;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_194248.2:c.510-39C>T;ESP6500_MAF=38.5465,13.0958,29.9247;ESP6500_TAC=3892,9114	GT:AD:DP:GQ:PL	1/1:0,16:16:48:583,48,0
chr2	26516555	rs11687696;21847	T	C	952.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11687696;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|5/46|c.372A>G|p.Thr124Thr|499/6958|372/5994|124/1997||,C|synonymous_variant|LOW|OTOF|OTOF|transcript|NM_194248.2|protein_coding|5/47|c.372A>G|p.Thr124Thr|499/7156|372/5994|124/1997||;p3_1000G_AA=T|||;p3_1000G_AC=1279;p3_1000G_AF=0.255391;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=18921;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.3012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26739423;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=337,4069;ESP6500_AA_AGE=176.6+/-205.7;ESP6500_AA_GTC=16,305,1882;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...9381&amp%3Brs...11687696;ESP6500_CDS_SIZES=NM_194248.2:5994;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=68;ESP6500_EA_AC=2429,6171;ESP6500_EA_AGE=399.4+/-346.4;ESP6500_EA_GTC=318,1793,2189;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194248.2:coding-synonymous;ESP6500_GL=OTOF;ESP6500_GRCh38_POSITION=2:26516555;ESP6500_GTC=334,2098,4071;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194248.2:c.372A>G;ESP6500_HGVS_PROTEIN_VAR=NM_194248.2:p.(T124);ESP6500_MAF=28.2442,7.6487,21.2671;ESP6500_TAC=2766,10240;CLINVAR_AF_ESP=0.2127;CLINVAR_AF_EXAC=0.29751;CLINVAR_AF_TGP=0.2554;CLINVAR_ALLELEID=34699;CLINVAR_CLNDISDB=MedGen:C1832828,OMIM:601071|MedGen:CN169374|MedGen:CN239439;CLINVAR_CLNDN=Deafness,_autosomal_recessive_9|not_specified|Nonsyndromic_Hearing_Loss,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.26516555T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24180;CLINVAR_GENEINFO=OTOF:9381;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11687696	GT:AD:DP:GQ:PL	1/1:0,30:30:90:981,90,0
chr2	26527689	rs10865425	T	C	476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10865425;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_001287489.1|protein_coding|3/45|c.227+143A>G||||||,C|intron_variant|MODIFIER|OTOF|OTOF|transcript|NM_194248.2|protein_coding|3/46|c.227+143A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4722;p3_1000G_AF=0.942891;p3_1000G_AFR_AF=0.7897;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=19486;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26750557;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:505,39,0
chr2	26571976	rs398080112;rs71399395	AT	A	15.85	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.64;ReadPosRankSum=-1.282;SOR=0.307;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71399395;dbSNPBuildID=130,138;ANN=A|intron_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding|1/3|c.75-3923delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding|1/4|c.1-137delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TTT|TT|deletion;p3_1000G_AC=2040;p3_1000G_AF=0.407348;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=16371;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26794844;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4172;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,2:6:53:53,0,125
chr2	26576025	rs13002673	A	T	1392.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.419;ClippingRankSum=0;DP=128;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.232;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13002673;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding|2/4|c.198A>T|p.Gln66His|252/754|198/606|66/201||,T|missense_variant|MODERATE|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding|3/5|c.160A>T|p.Arg54Trp|288/790|160/555|54/184||;p3_1000G_AA=A|||;p3_1000G_AC=1675;p3_1000G_AF=0.334465;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=18527;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26798893;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=537,3657;ESP6500_AA_GTC=41,455,1601;ESP6500_CDS_SIZES=NM_001105519.1:606;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=125;ESP6500_EA_AC=2502,5954;ESP6500_EA_GTC=350,1802,2076;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001105519.1:missense;ESP6500_GL=C2orf70;ESP6500_GRCh38_POSITION=2:26576025;ESP6500_GS=24;ESP6500_GTC=391,2257,3677;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001105519.1:c.198A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001105519.1:p.(Q66H);ESP6500_MAF=29.5885,12.804,24.0237;ESP6500_PH=possibly-damaging:0.728;ESP6500_TAC=3039,9611	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1421,0,1808
chr2	26576163	rs2272464	G	A	575.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.393;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.82;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=0.151;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272464;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding|3/5|c.298G>A|p.Glu100Lys|426/790|298/555|100/184||,A|synonymous_variant|LOW|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding|2/4|c.336G>A|p.Thr112Thr|390/754|336/606|112/201||;p3_1000G_AA=G|||;p3_1000G_AC=1802;p3_1000G_AF=0.359824;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=18685;p3_1000G_EAS_AF=0.623;p3_1000G_EUR_AF=0.336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26799031;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=736,3246;ESP6500_AA_GTC=71,594,1326;ESP6500_CDS_SIZES=NM_001105519.1:606;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=2481,5851;ESP6500_EA_GTC=350,1781,2035;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001105519.1:coding-synonymous;ESP6500_GL=C2orf70;ESP6500_GRCh38_POSITION=2:26576163;ESP6500_GTC=421,2375,3361;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001105519.1:c.336G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001105519.1:p.(T112);ESP6500_MAF=29.7768,18.4832,26.1247;ESP6500_TAC=3217,9097	GT:AD:DP:GQ:PL	0/1:33,23:56:99:604,0,1023
chr2	26576223	rs2272465	C	A	440.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.938;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=0.562;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272465;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding||c.*5140G>T|||||4979|,A|intron_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding|2/3|c.348+48C>A||||||,A|intron_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding|3/4|c.310+48C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=373;p3_1000G_AF=0.0744808;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=16296;p3_1000G_EAS_AF=0.0873;p3_1000G_EUR_AF=0.0537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26799091;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0573;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=369,3521;ESP6500_AA_GTC=20,329,1596;ESP6500_CDS_SIZES=NM_001105519.1:606;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=489,7783;ESP6500_EA_GTC=16,457,3663;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001105519.1:intron;ESP6500_GL=C2orf70;ESP6500_GRCh38_POSITION=2:26576223;ESP6500_GTC=36,786,5259;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001105519.1:c.348+48C>A;ESP6500_MAF=5.9115,9.4859,7.0548;ESP6500_TAC=858,11304	GT:AD:DP:GQ:PL	0/1:7,16:23:99:469,0,185
chr2	26577554	rs1053807	G	A	1282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.86;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.031;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1053807;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding|4/5|c.349G>A|p.Gly117Arg|477/790|349/555|117/184||,A|synonymous_variant|LOW|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding|3/4|c.387G>A|p.Thr129Thr|441/754|387/606|129/201||,A|downstream_gene_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding||c.*3809C>T|||||3648|;p3_1000G_AA=G|||;p3_1000G_AC=1709;p3_1000G_AF=0.341254;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=20403;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.4642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26800422;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=998,3174;ESP6500_AA_GTC=125,748,1213;ESP6500_CDS_SIZES=NM_001105519.1:606;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=98;ESP6500_EA_AC=4018,4402;ESP6500_EA_GTC=979,2060,1171;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001105519.1:coding-synonymous;ESP6500_GL=C2orf70;ESP6500_GRCh38_POSITION=2:26577554;ESP6500_GTC=1104,2808,2384;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001105519.1:c.387G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001105519.1:p.(T129);ESP6500_MAF=47.7197,23.9214,39.8348;ESP6500_TAC=5016,7576	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1311,0,1733
chr2	26579524	rs2272467	A	T	523.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.079;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272467;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding|4/4|c.*86A>T|||||86|,T|3_prime_UTR_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding|5/5|c.*99A>T|||||99|,T|downstream_gene_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding||c.*1839T>A|||||1678|;p3_1000G_AA=A|||;p3_1000G_AC=1812;p3_1000G_AF=0.361821;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=20246;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26802392;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,18:32:99:552,0,348
chr2	26581254	rs744539	T	G	451.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs744539;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding|7/7|c.*109A>C|||||109|,G|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding||c.*1816T>G|||||1722|,G|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding||c.*1829T>G|||||1722|;p3_1000G_AA=G|||;p3_1000G_AC=3103;p3_1000G_AF=0.619609;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=18473;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26804122;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:480,39,0
chr2	26581275	rs744540	T	C	584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs744540;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding|7/7|c.*88A>G|||||88|,C|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding||c.*1837T>C|||||1743|,C|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding||c.*1850T>C|||||1743|;p3_1000G_AA=T|||;p3_1000G_AC=3298;p3_1000G_AF=0.658546;p3_1000G_AFR_AF=0.6558;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=18063;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26804143;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:613,54,0
chr2	26581350	rs935171	G	A	1283.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.2;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs935171;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding|7/7|c.*13C>T|||||13|,A|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding||c.*1912G>A|||||1818|,A|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding||c.*1925G>A|||||1818|;p3_1000G_AA=A|||;p3_1000G_AC=4815;p3_1000G_AF=0.961462;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=16045;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26804218;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3894,512;ESP6500_AA_AGE=234.6+/-247.4;ESP6500_AA_GTC=1721,452,30;ESP6500_CDS_SIZES=NM_001029881.1:558;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=65;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029881.1:utr-3;ESP6500_GL=CIB4;ESP6500_GRCh38_POSITION=2:26581350;ESP6500_GTC=6017,456,30;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001029881.1:c.*13C>T;ESP6500_MAF=0.0465,11.6205,3.9674;ESP6500_TAC=12490,516	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1312,146,0
chr2	26581379	rs935172	T	C	1738.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs935172;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|CIB4|CIB4|transcript|NM_001029881.2|protein_coding|7/7|c.542A>G|p.His181Arg|596/773|542/558|181/185||,C|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding||c.*1941T>C|||||1847|,C|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding||c.*1954T>C|||||1847|;p3_1000G_AA=T|||;p3_1000G_AC=2930;p3_1000G_AF=0.585064;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=4379;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.504;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26804247;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2339,2067;ESP6500_AA_AGE=606.5+/-390.8;ESP6500_AA_GTC=616,1107,480;ESP6500_CDS_SIZES=NM_001029881.1:558;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=4282,4318;ESP6500_EA_AGE=575.3+/-390.2;ESP6500_EA_GTC=1088,2106,1106;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001029881.1:missense;ESP6500_GL=CIB4;ESP6500_GRCh38_POSITION=2:26581379;ESP6500_GS=29;ESP6500_GTC=1704,3213,1586;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001029881.1:c.542A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001029881.1:p.(H181R);ESP6500_MAF=49.7907,46.9133,49.0927;ESP6500_PH=benign:0.001;ESP6500_TAC=6621,6385	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1767,174,0
chr2	26583935	rs2305000	T	C	274.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.097;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=2.19;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305000;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|CIB4|CIB4|calcium-binding-region:1|NM_001029881.2|protein_coding|4/6|c.329-37A>G||||||,C|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001105519.2|protein_coding||c.*4497T>C|||||4403|,C|downstream_gene_variant|MODIFIER|C2orf70|C2orf70|transcript|NM_001322426.1|protein_coding||c.*4510T>C|||||4403|,C|intron_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding|4/6|c.329-37A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=852;p3_1000G_AF=0.170128;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=17393;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.0209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26806803;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=946,3460;ESP6500_AA_AGE=358.6+/-314.5;ESP6500_AA_GTC=87,772,1344;ESP6500_CDS_SIZES=NM_001029881.1:558;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=51,8549;ESP6500_EA_AGE=32.3+/-84.9;ESP6500_EA_GTC=0,51,4249;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029881.1:intron;ESP6500_GL=CIB4;ESP6500_GRCh38_POSITION=2:26583935;ESP6500_GTC=87,823,5593;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001029881.1:c.329-37A>G;ESP6500_MAF=0.593,21.4707,7.6657;ESP6500_TAC=997,12009	GT:AD:DP:GQ:PL	0/1:11,12:23:99:303,0,283
chr2	26595138	rs1148962	T	C	1330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.76;SOR=2.376;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1148962;dbSNPBuildID=87;ANN=C|sequence_feature|LOW|CIB4|CIB4|calcium-binding-region:1|NM_001029881.2|protein_coding|4/6|c.328+38A>G||||||,C|intron_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding|4/6|c.328+38A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4398;p3_1000G_AF=0.878195;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=20821;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.8926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26818006;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3355,1051;ESP6500_AA_AGE=368.1+/-318.5;ESP6500_AA_GTC=1290,775,138;ESP6500_CDS_SIZES=NM_001029881.1:558;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=95;ESP6500_EA_AC=7599,1001;ESP6500_EA_AGE=207.5+/-249.2;ESP6500_EA_GTC=3364,871,65;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029881.1:intron;ESP6500_GL=CIB4;ESP6500_GRCh38_POSITION=2:26595138;ESP6500_GTC=4654,1646,203;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001029881.1:c.328+38A>G;ESP6500_MAF=11.6395,23.8538,15.7773;ESP6500_TAC=10954,2052	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,31:31:93:1|1:26595138_T_C:1359,93,0
chr2	26595153	rs1148963	C	T	1509.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.54;SOR=1.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1148963;dbSNPBuildID=87;ANN=T|sequence_feature|LOW|CIB4|CIB4|calcium-binding-region:1|NM_001029881.2|protein_coding|4/6|c.328+23G>A||||||,T|intron_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding|4/6|c.328+23G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3602;p3_1000G_AF=0.719249;p3_1000G_AFR_AF=0.2927;p3_1000G_AMR_AF=0.8458;p3_1000G_AN=5008;p3_1000G_DP=20790;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.8529;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26818021;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1713,2693;ESP6500_AA_AGE=514.1+/-368.5;ESP6500_AA_GTC=335,1043,825;ESP6500_CDS_SIZES=NM_001029881.1:558;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=102;ESP6500_EA_AC=7224,1376;ESP6500_EA_AGE=754.2+/-407.5;ESP6500_EA_GTC=3036,1152,112;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029881.1:intron;ESP6500_GL=CIB4;ESP6500_GRCh38_POSITION=2:26595153;ESP6500_GTC=3371,2195,937;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029881.1:c.328+23G>A;ESP6500_MAF=16.0,38.8788,31.2856;ESP6500_TAC=8937,4069	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:26595138_T_C:1538,108,0
chr2	26595166	rs3739078	C	T	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.314;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0;SOR=0.746;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739078;dbSNPBuildID=107;ANN=T|sequence_feature|LOW|CIB4|CIB4|calcium-binding-region:1|NM_001029881.2|protein_coding|4/6|c.328+10G>A||||||,T|intron_variant|MODIFIER|CIB4|CIB4|transcript|NM_001029881.2|protein_coding|4/6|c.328+10G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=77;p3_1000G_AF=0.0153754;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=21221;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26818034;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,4403;ESP6500_AA_AGE=6.2+/-15.9;ESP6500_AA_GTC=0,3,2200;ESP6500_CDS_SIZES=NM_001029881.1:558;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=106;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029881.1:intron;ESP6500_GL=CIB4;ESP6500_GRCh38_POSITION=2:26595166;ESP6500_GTC=0,3,6500;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029881.1:c.328+10G>A;ESP6500_MAF=0.0,0.0681,0.0231;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,13:40:99:0|1:26595138_T_C:308,0,717
chr2	26728581	rs1663002;402999	G	A	446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1663002;dbSNPBuildID=89;ANN=A|3_prime_UTR_variant|MODIFIER|KCNK3|KCNK3|transcript|NM_002246.2|protein_coding|2/2|c.*13G>A|||||13|;p3_1000G_AA=G|||;p3_1000G_AC=4821;p3_1000G_AF=0.96266;p3_1000G_AFR_AF=0.8684;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=12954;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26951449;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3881,365;ESP6500_AA_GTC=1766,349,8;ESP6500_CDS_SIZES=NM_002246.2:1185;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=5;ESP6500_EA_AC=8294,8;ESP6500_EA_GTC=4143,8,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002246.2:utr-3;ESP6500_GL=KCNK3;ESP6500_GRCh38_POSITION=2:26728581;ESP6500_GTC=5909,357,8;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002246.2:c.*13G>A;ESP6500_MAF=0.0964,8.5963,2.9726;ESP6500_TAC=12175,373;CLINVAR_ALLELEID=389500;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.26728581G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=KCNK3:3777;CLINVAR_ORIGIN=1;CLINVAR_RS=1663002	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:26728580_G_T:475,42,0
chr2	26792112	rs12992046	T	C	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.027;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=11.215;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.578;SOR=1.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12992046;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001809.3|protein_coding|1/4|c.101-19T>C||||||,C|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001042426.1|protein_coding|1/3|c.101-19T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1214;p3_1000G_AF=0.242412;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=18867;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27014980;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=695,3711;ESP6500_AA_AGE=285.7+/-278.4;ESP6500_AA_GTC=68,559,1576;ESP6500_CDS_SIZES=NM_001809.3:423,NM_001042426.1:345;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=44;ESP6500_EA_AC=2955,5645;ESP6500_EA_AGE=447.1+/-361.4;ESP6500_EA_GTC=529,1897,1874;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001809.3:intron,NM_001042426.1:intron;ESP6500_GL=CENPA;ESP6500_GRCh38_POSITION=2:26792112;ESP6500_GTC=597,2456,3450;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001809.3:c.101-19T>C,NM_001042426.1:c.101-19T>C;ESP6500_MAF=34.3605,15.7739,28.064;ESP6500_TAC=3650,9356	GT:AD:DP:GQ:PL	0/1:15,16:31:99:432,0,425
chr2	26792250	rs13014800	G	A	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.812;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.61;ReadPosRankSum=0.331;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13014800;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001809.3|protein_coding|2/4|c.210+10G>A||||||,A|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001042426.1|protein_coding|2/3|c.210+10G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1206;p3_1000G_AF=0.240815;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=16482;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27015118;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=696,3710;ESP6500_AA_AGE=289.2+/-280.3;ESP6500_AA_GTC=68,560,1575;ESP6500_CDS_SIZES=NM_001809.3:423,NM_001042426.1:345;ESP6500_CG=3.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=42;ESP6500_EA_AC=2957,5643;ESP6500_EA_AGE=446.5+/-361.3;ESP6500_EA_GTC=529,1899,1872;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001809.3:intron,NM_001042426.1:intron;ESP6500_GL=CENPA;ESP6500_GRCh38_POSITION=2:26792250;ESP6500_GTC=597,2459,3447;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001809.3:c.210+10G>A,NM_001042426.1:c.210+10G>A;ESP6500_MAF=34.3837,15.7966,28.087;ESP6500_TAC=3653,9353	GT:AD:DP:GQ:PL	0/1:5,16:21:99:482,0,108
chr2	26792273	rs35344721;rs397782204;~rs35344721	G	GC	374.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.586;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.04;ReadPosRankSum=-0.057;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35344721;dbSNPBuildID=130,138;ANN=GC|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001809.3|protein_coding|2/4|c.210+35dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001042426.1|protein_coding|2/3|c.210+35dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CC|CC|CCC|insertion;p3_1000G_AC=1206;p3_1000G_AF=0.240815;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=16549;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27015141;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=INDEL;ESP6500_AA_AC=680,3584;ESP6500_AA_GTC=67,546,1519;ESP6500_CDS_SIZES=NM_001809.3:423,NM_001042426.1:345;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=27;ESP6500_EA_AC=2818,5436;ESP6500_EA_GTC=505,1808,1814;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001809.3:intron,NM_001042426.1:intron;ESP6500_GL=CENPA;ESP6500_GRCh38_POSITION=2:26792273;ESP6500_GTC=572,2354,3333;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001809.3:c.210+33_210+34insC,NM_001042426.1:c.210+33_210+34insC;ESP6500_MAF=34.141,15.9475,27.9438;ESP6500_TAC=3498,9020	GT:AD:DP:GQ:PL	0/1:4,13:17:90:412,0,90
chr2	26793035	rs2289017	T	C	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.82;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=2.07;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289017;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001809.3|protein_coding|3/4|c.289-110T>C||||||,C|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001042426.1|protein_coding|2/3|c.211-110T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1206;p3_1000G_AF=0.240815;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=20996;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27015903;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:220,0,119
chr2	26793101	rs2289018	G	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=7.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.027;SOR=2.461;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289018;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001809.3|protein_coding|3/4|c.289-44G>A||||||,A|intron_variant|MODIFIER|CENPA|CENPA|transcript|NM_001042426.1|protein_coding|2/3|c.211-44G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1206;p3_1000G_AF=0.240815;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=21333;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27015969;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=695,3711;ESP6500_AA_AGE=760.4+/-413.0;ESP6500_AA_GTC=68,559,1576;ESP6500_CDS_SIZES=NM_001809.3:423,NM_001042426.1:345;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=104;ESP6500_EA_AC=2960,5640;ESP6500_EA_AGE=667.0+/-402.4;ESP6500_EA_GTC=530,1900,1870;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001809.3:intron,NM_001042426.1:intron;ESP6500_GL=CENPA;ESP6500_GRCh38_POSITION=2:26793101;ESP6500_GTC=598,2459,3446;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001809.3:c.289-44G>A,NM_001042426.1:c.211-44G>A;ESP6500_MAF=34.4186,15.7739,28.1024;ESP6500_TAC=3655,9351	GT:AD:DP:GQ:PL	0/1:15,12:27:99:337,0,350
chr2	26934528	rs920437	G	A	529.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.034;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.402;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs920437;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253723.1|protein_coding|7/12|c.791-50G>A||||||,A|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_020134.3|protein_coding|7/12|c.791-50G>A||||||,A|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253724.1|protein_coding|7/12|c.791-50G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1753;p3_1000G_AF=0.35004;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=21152;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.3787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27157396;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1249,3157;ESP6500_AA_AGE=428.5+/-341.9;ESP6500_AA_GTC=186,877,1140;ESP6500_CDS_SIZES=NM_020134.3:1695,NM_001253724.1:1695,NM_001253723.1:1695;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=44;ESP6500_EA_AC=3398,5202;ESP6500_EA_AGE=499.6+/-375.0;ESP6500_EA_GTC=646,2106,1548;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020134.3:intron,NM_001253724.1:intron,NM_001253723.1:intron;ESP6500_GL=DPYSL5;ESP6500_GRCh38_POSITION=2:26934528;ESP6500_GTC=832,2983,2688;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020134.3:c.791-50G>A,NM_001253724.1:c.791-50G>A,NM_001253723.1:c.791-50G>A;ESP6500_MAF=39.5116,28.3477,35.7297;ESP6500_TAC=4647,8359	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,22:37:99:0|1:26934528_G_A:558,0,331
chr2	26934532	rs920436	A	G	1458.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.53;SOR=1.788;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs920436;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253723.1|protein_coding|7/12|c.791-46A>G||||||,G|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_020134.3|protein_coding|7/12|c.791-46A>G||||||,G|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253724.1|protein_coding|7/12|c.791-46A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4844;p3_1000G_AF=0.967252;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=21243;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27157400;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3951,455;ESP6500_AA_AGE=218.1+/-236.3;ESP6500_AA_GTC=1765,421,17;ESP6500_CDS_SIZES=NM_020134.3:1695,NM_001253724.1:1695,NM_001253723.1:1695;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=48;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020134.3:intron,NM_001253724.1:intron,NM_001253723.1:intron;ESP6500_GL=DPYSL5;ESP6500_GRCh38_POSITION=2:26934532;ESP6500_GTC=6061,425,17;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020134.3:c.791-46A>G,NM_001253724.1:c.791-46A>G,NM_001253723.1:c.791-46A>G;ESP6500_MAF=0.0465,10.3268,3.5291;ESP6500_TAC=12547,459	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:26934528_G_A:1487,119,0
chr2	26940176	rs3739085	T	C	566.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.159;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.541;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739085;dbSNPBuildID=107;ANN=C|splice_region_variant&intron_variant|LOW|DPYSL5|DPYSL5|transcript|NM_001253723.1|protein_coding|9/12|c.1089+4T>C||||||,C|splice_region_variant&intron_variant|LOW|DPYSL5|DPYSL5|transcript|NM_020134.3|protein_coding|9/12|c.1089+4T>C||||||,C|splice_region_variant&intron_variant|LOW|DPYSL5|DPYSL5|transcript|NM_001253724.1|protein_coding|9/12|c.1089+4T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3046;p3_1000G_AF=0.608227;p3_1000G_AFR_AF=0.5666;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=17536;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27163044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2579,1827;ESP6500_AA_AGE=534.5+/-374.0;ESP6500_AA_GTC=763,1053,387;ESP6500_CDS_SIZES=NM_020134.3:1695,NM_001253724.1:1695,NM_001253723.1:1695;ESP6500_CG=-11.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=116;ESP6500_EA_AC=5198,3402;ESP6500_EA_AGE=503.6+/-375.9;ESP6500_EA_GTC=1554,2090,656;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020134.3:intron,NM_001253724.1:intron,NM_001253723.1:intron;ESP6500_GL=DPYSL5;ESP6500_GRCh38_POSITION=2:26940176;ESP6500_GTC=2317,3143,1043;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020134.3:c.1089+4T>C,NM_001253724.1:c.1089+4T>C,NM_001253723.1:c.1089+4T>C;ESP6500_MAF=39.5581,41.4662,40.2045;ESP6500_TAC=7777,5229	GT:AD:DP:GQ:PL	0/1:15,23:38:99:595,0,355
chr2	26941938	rs3820823	G	A	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.112;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.124;SOR=0.928;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820823;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253723.1|protein_coding|9/12|c.1090-12G>A||||||,A|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_020134.3|protein_coding|9/12|c.1090-12G>A||||||,A|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253724.1|protein_coding|9/12|c.1090-12G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3046;p3_1000G_AF=0.608227;p3_1000G_AFR_AF=0.5673;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=20515;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.6203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27164806;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2579,1827;ESP6500_AA_AGE=637.0+/-396.7;ESP6500_AA_GTC=763,1053,387;ESP6500_CDS_SIZES=NM_020134.3:1695,NM_001253724.1:1695,NM_001253723.1:1695;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=117;ESP6500_EA_AC=5180,3420;ESP6500_EA_AGE=638.3+/-399.3;ESP6500_EA_GTC=1542,2096,662;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020134.3:intron,NM_001253724.1:intron,NM_001253723.1:intron;ESP6500_GL=DPYSL5;ESP6500_GRCh38_POSITION=2:26941938;ESP6500_GTC=2305,3149,1049;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020134.3:c.1090-12G>A,NM_001253724.1:c.1090-12G>A,NM_001253723.1:c.1090-12G>A;ESP6500_MAF=39.7674,41.4662,40.3429;ESP6500_TAC=7759,5247	GT:AD:DP:GQ:PL	0/1:21,21:42:99:522,0,523
chr2	26944916	rs3739088	C	T	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.6;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=2.11;SOR=0.175;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739088;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253723.1|protein_coding|12/12|c.1609+92C>T||||||,T|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_020134.3|protein_coding|12/12|c.1609+92C>T||||||,T|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253724.1|protein_coding|12/12|c.1609+92C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1716;p3_1000G_AF=0.342652;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=18379;p3_1000G_EAS_AF=0.3016;p3_1000G_EUR_AF=0.3787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27167784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:233,0,246
chr2	26946769	rs3835821	TC	T	315.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.813;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.391;SOR=0.551;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3835821;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253723.1|protein_coding|12/12|c.1610-140delC||||||,T|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_020134.3|protein_coding|12/12|c.1610-140delC||||||,T|intron_variant|MODIFIER|DPYSL5|DPYSL5|transcript|NM_001253724.1|protein_coding|12/12|c.1610-140delC||||||;p3_1000G_AA=c|C|-|deletion;p3_1000G_AC=2914;p3_1000G_AF=0.581869;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=21049;p3_1000G_EAS_AF=0.7123;p3_1000G_EUR_AF=0.6332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27169637;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,10:17:99:353,0,232
chr2	26946974	rs11126784	C	A	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.496;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.86;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11126784;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|DPYSL5|DPYSL5|transcript|NM_001253723.1|protein_coding|13/13|c.1674C>A|p.Gly558Gly|1749/5126|1674/1695|558/564||,A|synonymous_variant|LOW|DPYSL5|DPYSL5|transcript|NM_020134.3|protein_coding|13/13|c.1674C>A|p.Gly558Gly|1832/5209|1674/1695|558/564||,A|synonymous_variant|LOW|DPYSL5|DPYSL5|transcript|NM_001253724.1|protein_coding|13/13|c.1674C>A|p.Gly558Gly|1752/5129|1674/1695|558/564||;p3_1000G_AA=c|||;p3_1000G_AC=2879;p3_1000G_AF=0.57488;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=19717;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.6262;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27169842;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1939,2467;ESP6500_AA_AGE=549.4+/-377.8;ESP6500_AA_GTC=444,1051,708;ESP6500_CDS_SIZES=NM_020134.3:1695,NM_001253724.1:1695,NM_001253723.1:1695;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=71;ESP6500_EA_AC=5253,3347;ESP6500_EA_AGE=640.6+/-399.6;ESP6500_EA_GTC=1600,2053,647;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020134.3:coding-synonymous,NM_001253724.1:coding-synonymous,NM_001253723.1:coding-synonymous;ESP6500_GL=DPYSL5;ESP6500_GRCh38_POSITION=2:26946974;ESP6500_GTC=2044,3104,1355;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020134.3:c.1674C>A,NM_001253724.1:c.1674C>A,NM_001253723.1:c.1674C>A;ESP6500_HGVS_PROTEIN_VAR=NM_020134.3:p.(G558),NM_001253724.1:p.(G558),NM_001253723.1:p.(G558);ESP6500_MAF=38.9186,44.0082,44.7024;ESP6500_TAC=7192,5814	GT:AD:DP:GQ:PL	0/1:32,28:60:99:654,0,828
chr2	27023417	rs10865456	C	T	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.746;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0.995;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.77;SOR=0.56;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10865456;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|MAPRE3|MAPRE3|transcript|NM_001303050.1|protein_coding|3/7|c.207C>T|p.His69His|445/1955|207/846|69/281||,T|synonymous_variant|LOW|MAPRE3|MAPRE3|transcript|NM_012326.3|protein_coding|3/7|c.207C>T|p.His69His|646/2156|207/846|69/281||;p3_1000G_AA=T|||;p3_1000G_AC=4408;p3_1000G_AF=0.880192;p3_1000G_AFR_AF=0.823;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=20822;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.9274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27246285;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3737,669;ESP6500_AA_AGE=285.5+/-278.2;ESP6500_AA_GTC=1579,579,45;ESP6500_CDS_SIZES=NM_012326.2:846;ESP6500_CG=-9.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=119;ESP6500_EA_AC=7981,619;ESP6500_EA_AGE=162.5+/-215.2;ESP6500_EA_GTC=3707,567,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012326.2:coding-synonymous;ESP6500_GL=MAPRE3;ESP6500_GRCh38_POSITION=2:27023417;ESP6500_GTC=5286,1146,71;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012326.2:c.207C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012326.2:p.(H69);ESP6500_MAF=7.1977,15.1838,9.9031;ESP6500_TAC=11718,1288	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,30:56:99:0|1:27023417_C_T:755,0,673
chr2	27026377	rs3754733	A	G	855.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.35;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=6.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.3;SOR=1.528;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754733;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|MAPRE3|MAPRE3|transcript|NM_001303050.1|protein_coding|7/7|c.*29A>G|||||29|,G|3_prime_UTR_variant|MODIFIER|MAPRE3|MAPRE3|transcript|NM_012326.3|protein_coding|7/7|c.*29A>G|||||29|;p3_1000G_AA=g|||;p3_1000G_AC=3265;p3_1000G_AF=0.651957;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=18287;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.6302;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27249245;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2872,1534;ESP6500_AA_AGE=482.6+/-359.5;ESP6500_AA_GTC=938,996,269;ESP6500_CDS_SIZES=NM_012326.2:846;ESP6500_CG=3.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=72;ESP6500_EA_AC=5358,3242;ESP6500_EA_AGE=487.1+/-372.0;ESP6500_EA_GTC=1686,1986,628;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012326.2:utr-3;ESP6500_GL=MAPRE3;ESP6500_GRCh38_POSITION=2:27026377;ESP6500_GTC=2624,2982,897;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012326.2:c.*29A>G;ESP6500_MAF=37.6977,34.8162,36.7215;ESP6500_TAC=8230,4776	GT:AD:DP:GQ:PL	0/1:42,33:75:99:884,0,981
chr2	27035383	rs2304714	T	G	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=19.243;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.97;ReadPosRankSum=0.447;SOR=2.774;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304714;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_017727.4|protein_coding|3/16|c.502+98T>G||||||,G|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_001083590.1|protein_coding|3/15|c.502+98T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=22756;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27258251;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:99:100,0,185
chr2	27035893	rs2304713	C	G	652.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=3.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.455;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304713;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_017727.4|protein_coding|4/16|c.638-77C>G||||||,G|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_001083590.1|protein_coding|3/15|c.503-77C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=22243;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27258761;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,22:42:99:681,0,623
chr2	27038461	rs11690454	A	G	780.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11690454;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_017727.4|protein_coding|10/16|c.1245-23A>G||||||,G|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_001083590.1|protein_coding|9/15|c.1110-23A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4911;p3_1000G_AF=0.980631;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20855;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27261329;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3852,220;ESP6500_AA_GTC=1823,206,7;ESP6500_CDS_SIZES=NM_017727.4:2070,NM_001083590.1:1935;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=87;ESP6500_EA_AC=8371,3;ESP6500_EA_GTC=4184,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017727.4:intron,NM_001083590.1:intron;ESP6500_GL=TMEM214;ESP6500_GRCh38_POSITION=2:27038461;ESP6500_GTC=6007,209,7;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017727.4:c.1245-23A>G,NM_001083590.1:c.1110-23A>G;ESP6500_MAF=0.0358,5.4028,1.7917;ESP6500_TAC=12223,223	GT:AD:DP:GQ:PL	1/1:0,25:25:75:809,75,0
chr2	27039790	rs146450073	C	T	1003.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.452;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.463;SOR=0.606;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146450073;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|TMEM214|TMEM214|transcript|NM_017727.4|protein_coding|14/17|c.1575C>T|p.Ser525Ser|1685/3040|1575/2070|525/689||,T|synonymous_variant|LOW|TMEM214|TMEM214|transcript|NM_001083590.1|protein_coding|13/16|c.1440C>T|p.Ser480Ser|1550/2905|1440/1935|480/644||;p3_1000G_AA=C|||;p3_1000G_AC=31;p3_1000G_AF=0.0061901;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22701;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27262658;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,4089;ESP6500_AA_GTC=0,1,2044;ESP6500_CDS_SIZES=NM_017727.4:2070,NM_001083590.1:1935;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=153;ESP6500_EA_AC=0,8390;ESP6500_EA_GTC=0,0,4195;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017727.4:coding-synonymous,NM_001083590.1:coding-synonymous;ESP6500_GL=TMEM214;ESP6500_GRCh38_POSITION=2:27039790;ESP6500_GTC=0,1,6239;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017727.4:c.1575C>T,NM_001083590.1:c.1440C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017727.4:p.(S525),NM_001083590.1:p.(S480);ESP6500_MAF=0.0,0.0244,0.0080;ESP6500_TAC=1,12479	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1032,0,908
chr2	27039895	rs146244277;rs59935461	GGGA	G	1563.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=1.949;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs59935461,rs146244277;dbSNPBuildID=134,129;ANN=G|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_017727.4|protein_coding|14/16|c.1622+64_1622+66delAGG||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_001083590.1|protein_coding|13/15|c.1487+64_1487+66delAGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4830;p3_1000G_AF=0.964457;p3_1000G_AFR_AF=0.8744;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=20525;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27262763;p3_1000G_GRCH37_REF=GGGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1601,109,0
chr2	27040254	rs1866654	T	C	820.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.039;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=5.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=2.4;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1866654;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_017727.4|protein_coding|15/16|c.1791+56T>C||||||,C|intron_variant|MODIFIER|TMEM214|TMEM214|transcript|NM_001083590.1|protein_coding|14/15|c.1656+56T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2813;p3_1000G_AF=0.561701;p3_1000G_AFR_AF=0.326;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=20098;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27263122;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=525,859;ESP6500_AA_GTC=100,325,267;ESP6500_CDS_SIZES=NM_017727.4:2070,NM_001083590.1:1935;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=128;ESP6500_EA_AC=1998,1184;ESP6500_EA_GTC=640,718,233;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017727.4:intron,NM_001083590.1:intron;ESP6500_GL=TMEM214;ESP6500_GRCh38_POSITION=2:27040254;ESP6500_GTC=740,1043,500;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017727.4:c.1791+56T>C,NM_001083590.1:c.1656+56T>C;ESP6500_MAF=37.2093,37.9335,44.7438;ESP6500_TAC=2523,2043	GT:AD:DP:GQ:PL	0/1:27,32:59:99:849,0,756
chr2	27052928	rs117264293	C	G	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.667;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=1.14;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117264293;dbSNPBuildID=132;ANN=G|5_prime_UTR_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|2/15|c.-31C>G|||||31|,G|5_prime_UTR_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_001035507.2|protein_coding|2/11|c.-31C>G|||||31|,G|upstream_gene_variant|MODIFIER|AGBL5-AS1|AGBL5-AS1|transcript|NR_046730.1|pseudogene||n.-2664G>C|||||2664|,G|non_coding_transcript_exon_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|2/16|n.148C>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|2/16|n.187C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=36;p3_1000G_AF=0.0071885;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20194;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27275796;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:133,0,267
chr2	27053334	rs3806520	G	A	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.59;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=3.253;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-1.243;SOR=1.501;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806520;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|AGBL5-AS1|AGBL5-AS1|transcript|NR_046730.1|pseudogene||n.-3070C>T|||||3070|,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|2/14|c.216-68G>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|2/15|n.394-68G>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_001035507.2|protein_coding|2/10|c.216-68G>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|2/15|n.433-68G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2750;p3_1000G_AF=0.549121;p3_1000G_AFR_AF=0.2837;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=20420;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27276202;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,23:43:99:654,0,567
chr2	27056145	rs2278593	A	G	802.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.048;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.949;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278593;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|7/14|c.1365+7A>G||||||,G|splice_region_variant&intron_variant|LOW|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|7/15|n.1543+7A>G||||||,G|splice_region_variant&intron_variant|LOW|AGBL5|AGBL5|transcript|NM_001035507.2|protein_coding|7/10|c.1365+7A>G||||||,G|splice_region_variant&intron_variant|LOW|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|7/15|n.1582+7A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=388;p3_1000G_AF=0.077476;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=21990;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27279013;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=123,4283;ESP6500_AA_AGE=808.1+/-415.9;ESP6500_AA_GTC=4,115,2084;ESP6500_CDS_SIZES=NM_021831.5:2661,NM_001035507.2:2154;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=606,7994;ESP6500_EA_AGE=781.1+/-407.6;ESP6500_EA_GTC=23,560,3717;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021831.5:intron,NM_001035507.2:intron;ESP6500_GL=AGBL5;ESP6500_GRCh38_POSITION=2:27056145;ESP6500_GTC=27,675,5801;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021831.5:c.1365+7A>G,NM_001035507.2:c.1365+7A>G;ESP6500_MAF=7.0465,2.7916,5.6051;ESP6500_TAC=729,12277	GT:AD:DP:GQ:PL	0/1:30,28:58:99:831,0,787
chr2	27056548	rs2384570	A	G	581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2384570;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|7/14|c.1366-75A>G||||||,G|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|7/15|n.1544-75A>G||||||,G|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_001035507.2|protein_coding|7/10|c.1366-75A>G||||||,G|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|7/15|n.1583-75A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4841;p3_1000G_AF=0.966653;p3_1000G_AFR_AF=0.8828;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=21387;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27279416;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:610,60,0
chr2	27057224	rs6711384	T	A	1068.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.48;SOR=2.694;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6711384;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|8/14|c.1536-79T>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|8/15|n.1714-79T>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_001035507.2|protein_coding|8/10|c.1536-79T>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|8/15|n.1753-79T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3209;p3_1000G_AF=0.640775;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=20959;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.6889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27280092;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1097,93,0
chr2	27057259	rs6721395	G	A	1597.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=1.755;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6721395;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|8/14|c.1536-44G>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|8/15|n.1714-44G>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_001035507.2|protein_coding|8/10|c.1536-44G>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|8/15|n.1753-44G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3195;p3_1000G_AF=0.637979;p3_1000G_AFR_AF=0.3427;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=21138;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.6889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27280127;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1735,2671;ESP6500_AA_AGE=649.1+/-398.8;ESP6500_AA_GTC=333,1069,801;ESP6500_CDS_SIZES=NM_021831.5:2661,NM_001035507.2:2154;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=63;ESP6500_EA_AC=5927,2673;ESP6500_EA_AGE=429.3+/-356.2;ESP6500_EA_GTC=2047,1833,420;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021831.5:intron,NM_001035507.2:intron;ESP6500_GL=AGBL5;ESP6500_GRCh38_POSITION=2:27057259;ESP6500_GTC=2380,2902,1221;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021831.5:c.1536-44G>A,NM_001035507.2:c.1536-44G>A;ESP6500_MAF=31.0814,39.3781,41.0887;ESP6500_TAC=7662,5344	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1626,147,0
chr2	27067657	rs11681145	A	G	1793.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=0.729;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11681145;dbSNPBuildID=120;ANN=G|downstream_gene_variant|MODIFIER|OST4|OST4|transcript|NM_001134693.1|protein_coding||c.*3692T>C|||||2817|,G|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|12/14|c.2242+11A>G||||||,G|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|12/15|n.2420+11A>G||||||,G|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|12/15|n.2459+11A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3214;p3_1000G_AF=0.641773;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=18387;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.6889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27290525;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1737,2669;ESP6500_AA_AGE=647.0+/-398.5;ESP6500_AA_GTC=335,1067,801;ESP6500_CDS_SIZES=NM_021831.5:2661;ESP6500_CG=-0.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=79;ESP6500_EA_AC=5933,2667;ESP6500_EA_AGE=426.6+/-355.3;ESP6500_EA_GTC=2055,1823,422;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021831.5:intron;ESP6500_GL=AGBL5;ESP6500_GRCh38_POSITION=2:27067657;ESP6500_GTC=2390,2890,1223;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021831.5:c.2242+11A>G;ESP6500_MAF=31.0116,39.4235,41.0272;ESP6500_TAC=7670,5336	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1822,165,0
chr2	27068793	rs7575465	G	A	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.57;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.452;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.72;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7575465;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|OST4|OST4|transcript|NM_001134693.1|protein_coding||c.*2556C>T|||||1681|,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|13/14|c.2355+49G>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|13/15|n.2533+49G>A||||||,A|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|13/15|n.2572+49G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2323;p3_1000G_AF=0.463858;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=21737;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.5477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27291661;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=647,3759;ESP6500_AA_AGE=255.2+/-260.5;ESP6500_AA_GTC=48,551,1604;ESP6500_CDS_SIZES=NM_021831.5:2661;ESP6500_CG=4.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=36;ESP6500_EA_AC=4695,3905;ESP6500_EA_AGE=580.6+/-391.1;ESP6500_EA_GTC=1299,2097,904;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021831.5:intron;ESP6500_GL=AGBL5;ESP6500_GRCh38_POSITION=2:27068793;ESP6500_GTC=1347,2648,2508;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021831.5:c.2355+49G>A;ESP6500_MAF=45.407,14.6845,41.0734;ESP6500_TAC=5342,7664	GT:AD:DP:GQ:PL	0/1:15,12:27:99:342,0,538
chr2	27069783	rs10865461	T	C	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.812;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-0.903;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10865461;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|OST4|OST4|transcript|NM_001134693.1|protein_coding||c.*1566A>G|||||691|,C|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|14/14|c.2489+77T>C||||||,C|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|15/15|n.2714+77T>C||||||,C|intron_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|15/15|n.2753+77T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2794;p3_1000G_AF=0.557907;p3_1000G_AFR_AF=0.3086;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=19836;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27292651;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:61:61,0,227
chr2	27070282	rs1053609	G	T	517.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.533;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.783;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1053609;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|AGBL5|AGBL5|transcript|NM_021831.5|protein_coding|15/15|c.*19G>T|||||19|,T|downstream_gene_variant|MODIFIER|OST4|OST4|transcript|NM_001134693.1|protein_coding||c.*1067C>A|||||192|,T|non_coding_transcript_exon_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_138023.1|pseudogene|16/16|n.2905G>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|AGBL5|AGBL5|transcript|NR_104246.1|pseudogene|16/16|n.2944G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2764;p3_1000G_AF=0.551917;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=17950;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27293150;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1293,2469;ESP6500_AA_GTC=221,851,809;ESP6500_CDS_SIZES=NM_021831.5:2661;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=81;ESP6500_EA_AC=5113,3131;ESP6500_EA_GTC=1603,1907,612;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021831.5:utr-3;ESP6500_GL=AGBL5;ESP6500_GRCh38_POSITION=2:27070282;ESP6500_GTC=1824,2758,1421;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_021831.5:c.*19G>T;ESP6500_MAF=37.9791,34.37,46.6433;ESP6500_TAC=6406,5600	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,23:45:99:0|1:27070282_G_T:546,0,626
chr2	27079297	rs2289360	T	C	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.842;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289360;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|EMILIN1|EMILIN1|transcript|NM_007046.3|protein_coding|1/7|c.170+62T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2939;p3_1000G_AF=0.586861;p3_1000G_AFR_AF=0.4017;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=15976;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.6203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27302165;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:64:102,0,64
chr2	27081108	rs1293881121;rs60562914	CGTGT	C	90.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.08;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60562914,rs71932903;dbSNPBuildID=151,129;ANN=C|intron_variant|MODIFIER|EMILIN1|EMILIN1|transcript|NM_007046.3|protein_coding|3/7|c.511+193_511+196delGTGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1896;p3_1000G_AF=0.378594;p3_1000G_AFR_AF=0.4592;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=17309;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.3757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27303976;p3_1000G_GRCH37_REF=CGTGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:127,9,0
chr2	27084901	rs2304682	G	C	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.225;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=0.555;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304682;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|KHK|KHK|transcript|NM_000221.2|protein_coding||c.-2359G>C|||||1842|,C|upstream_gene_variant|MODIFIER|KHK|KHK|transcript|NM_006488.2|protein_coding||c.-2359G>C|||||1842|,C|intron_variant|MODIFIER|EMILIN1|EMILIN1|transcript|NM_007046.3|protein_coding|5/7|c.2558-90G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3426;p3_1000G_AF=0.684105;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=21121;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27307769;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6933;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1078,306;ESP6500_AA_GTC=428,222,42;ESP6500_CDS_SIZES=NM_007046.3:3051;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=139;ESP6500_EA_AC=2025,1157;ESP6500_EA_GTC=650,725,216;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007046.3:intron;ESP6500_GL=EMILIN1;ESP6500_GRCh38_POSITION=2:27084901;ESP6500_GTC=1078,947,258;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007046.3:c.2558-90G>C;ESP6500_MAF=36.3608,22.1098,32.0412;ESP6500_TAC=3103,1463	GT:AD:DP:GQ:PL	0/1:7,16:23:99:428,0,192
chr2	27092196	rs6754371	G	A	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.112;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=0.363;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6754371;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|KHK|KHK|transcript|NM_000221.2|protein_coding|1/7|c.93-136G>A||||||,A|intron_variant|MODIFIER|KHK|KHK|transcript|NM_006488.2|protein_coding|1/7|c.93-136G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=19125;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.6093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27315064;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,12:21:99:371,0,242
chr2	27092384	rs2304681;335482	G	A	907.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.47;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=1.686;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.725;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304681;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|KHK|KHK|transcript|NM_000221.2|protein_coding|2/8|c.145G>A|p.Val49Ile|662/2415|145/897|49/298||,A|missense_variant|MODERATE|KHK|KHK|transcript|NM_006488.2|protein_coding|2/8|c.145G>A|p.Val49Ile|662/2415|145/897|49/298||;p3_1000G_AA=G|||;p3_1000G_AC=1660;p3_1000G_AF=0.33147;p3_1000G_AFR_AF=0.3033;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=19742;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.3767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27315252;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1399,3007;ESP6500_AA_AGE=459.0+/-352.1;ESP6500_AA_GTC=230,939,1034;ESP6500_CDS_SIZES=NM_006488.2:897,NM_000221.2:897;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=67;ESP6500_EA_AC=3231,5369;ESP6500_EA_AGE=486.6+/-371.9;ESP6500_EA_GTC=622,1987,1691;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006488.2:missense,NM_000221.2:missense;ESP6500_GL=KHK;ESP6500_GRCh38_POSITION=2:27092384;ESP6500_GS=29,29;ESP6500_GTC=852,2926,2725;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006488.2:c.145G>A,NM_000221.2:c.145G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006488.2:p.(V49I),NM_000221.2:p.(V49I);ESP6500_MAF=37.5698,31.7522,35.599;ESP6500_PH=possibly-damaging:0.523,possibly-damaging:0.523;ESP6500_TAC=4630,8376;CLINVAR_AF_ESP=0.3560;CLINVAR_AF_EXAC=0.37762;CLINVAR_AF_TGP=0.3315;CLINVAR_ALLELEID=289183;CLINVAR_CLNDISDB=MedGen:C0268160,OMIM:229800,Orphanet:ORPHA2056;CLINVAR_CLNDN=Fructosuria,_essential;CLINVAR_CLNHGVS=NC_000002.12:g.27092384G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24209|UniProtKB_(protein):P50053#VAR_006074;CLINVAR_GENEINFO=KHK:3795;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2304681	GT:AD:DP:GQ:PL	0/1:55,40:95:99:936,0,1539
chr2	27096958	rs9677784	A	G	490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9677784;dbSNPBuildID=119;ANN=G|downstream_gene_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166239.1|protein_coding||c.*4316T>C|||||3636|,G|downstream_gene_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166240.1|protein_coding||c.*2826T>C|||||2395|,G|downstream_gene_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001301324.1|protein_coding||c.*3478T>C|||||2395|,G|downstream_gene_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_006569.5|protein_coding||c.*4316T>C|||||3636|,G|intron_variant|MODIFIER|KHK|KHK|transcript|NM_000221.2|protein_coding|4/7|c.417+157A>G||||||,G|intron_variant|MODIFIER|KHK|KHK|transcript|NM_006488.2|protein_coding|4/7|c.417+157A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4878;p3_1000G_AF=0.974042;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=22361;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27319826;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:519,42,0
chr2	27100517	rs1131375;335515	C	T	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.126;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=0.592;SOR=0.606;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1131375;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|CGREF1|CGREF1|transcript|NM_001301324.1|protein_coding|5/6|c.312G>A|p.Leu104Leu|672/1261|312/393|104/130||,T|3_prime_UTR_variant|MODIFIER|KHK|KHK|transcript|NM_000221.2|protein_coding|8/8|c.*767C>T|||||767|,T|3_prime_UTR_variant|MODIFIER|KHK|KHK|transcript|NM_006488.2|protein_coding|8/8|c.*767C>T|||||767|,T|downstream_gene_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166239.1|protein_coding||c.*757G>A|||||77|,T|downstream_gene_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_006569.5|protein_coding||c.*757G>A|||||77|,T|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166240.1|protein_coding|5/5|c.343-677G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1461;p3_1000G_AF=0.291733;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=19885;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27323385;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=228,1156;ESP6500_AA_GTC=17,194,481;ESP6500_CDS_SIZES=NM_006488.2:897,NM_001166241.1:339,NM_001166240.1:399,NM_000221.2:897;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=83;ESP6500_EA_AC=1155,2027;ESP6500_EA_GTC=215,725,651;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006488.2:utr-3,NM_001166241.1:missense,NM_001166240.1:intron,NM_000221.2:utr-3;ESP6500_GL=KHK,CGREF1;ESP6500_GRCh38_POSITION=2:27100517;ESP6500_GS=.,56,.,.;ESP6500_GTC=232,919,1132;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006488.2:c.*767C>T,NM_001166241.1:c.181G>A,NM_001166240.1:c.343-677G>A,NM_000221.2:c.*767C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_001166241.1:p.(G61S),.,.;ESP6500_MAF=36.2979,16.474,30.2891;ESP6500_PH=.,probably-damaging:0.963,.,.;ESP6500_TAC=1383,3183;CLINVAR_AF_ESP=0.3029;CLINVAR_AF_EXAC=0.32872;CLINVAR_AF_TGP=0.2917;CLINVAR_ALLELEID=289210;CLINVAR_CLNDISDB=MedGen:C0268160,OMIM:229800,Orphanet:ORPHA2056;CLINVAR_CLNDN=Fructosuria,_essential;CLINVAR_CLNHGVS=NC_000002.12:g.27100517C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24227;CLINVAR_GENEINFO=KHK:3795|CGREF1:10669;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1131375	GT:AD:DP:GQ:PL	0/1:30,19:49:99:438,0,834
chr2	27100600	rs4665371	A	C	906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.86;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665371;dbSNPBuildID=111;ANN=C|3_prime_UTR_variant|MODIFIER|KHK|KHK|transcript|NM_000221.2|protein_coding|8/8|c.*850A>C|||||850|,C|3_prime_UTR_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166239.1|protein_coding|6/6|c.*674T>G|||||674|,C|3_prime_UTR_variant|MODIFIER|KHK|KHK|transcript|NM_006488.2|protein_coding|8/8|c.*850A>C|||||850|,C|3_prime_UTR_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_006569.5|protein_coding|6/6|c.*674T>G|||||674|,C|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166240.1|protein_coding|5/5|c.343-760T>G||||||,C|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001301324.1|protein_coding|4/5|c.287-58T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4939;p3_1000G_AF=0.986222;p3_1000G_AFR_AF=0.9493;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20637;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27323468;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:935,75,0
chr2	27101168	rs1057394	G	A	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.595;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.14;ReadPosRankSum=-0.372;SOR=1.493;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057394;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166239.1|protein_coding|6/6|c.*106C>T|||||106|,A|3_prime_UTR_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_006569.5|protein_coding|6/6|c.*106C>T|||||106|,A|downstream_gene_variant|MODIFIER|KHK|KHK|transcript|NM_000221.2|protein_coding||c.*1418G>A|||||417|,A|downstream_gene_variant|MODIFIER|KHK|KHK|transcript|NM_006488.2|protein_coding||c.*1418G>A|||||417|,A|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166240.1|protein_coding|5/5|c.342+929C>T||||||,A|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001301324.1|protein_coding|4/5|c.287-626C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3093;p3_1000G_AF=0.617612;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=19100;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.6024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27324036;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,13:20:99:451,0,203
chr2	27101856	rs2384571	G	C	839.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.976;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-1.742;SOR=0.598;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2384571;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|CGREF1|CGREF1|transcript|NM_001166239.1|protein_coding|6/6|c.375C>G|p.Thr125Thr|517/1779|375/957|125/318||,C|synonymous_variant|LOW|CGREF1|CGREF1|transcript|NM_006569.5|protein_coding|6/6|c.375C>G|p.Thr125Thr|668/1930|375/957|125/318||,C|downstream_gene_variant|MODIFIER|KHK|KHK|transcript|NM_000221.2|protein_coding||c.*2106G>C|||||1105|,C|downstream_gene_variant|MODIFIER|KHK|KHK|transcript|NM_006488.2|protein_coding||c.*2106G>C|||||1105|,C|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166240.1|protein_coding|5/5|c.342+241C>G||||||,C|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001301324.1|protein_coding|4/5|c.286+159C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2878;p3_1000G_AF=0.574681;p3_1000G_AFR_AF=0.3775;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=17736;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27324724;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1871,2535;ESP6500_AA_AGE=537.3+/-374.7;ESP6500_AA_GTC=393,1085,725;ESP6500_CDS_SIZES=NM_006569.5:957,NM_001166241.1:339,NM_001166240.1:399,NM_001166239.1:957;ESP6500_CG=-1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=5294,3306;ESP6500_EA_AGE=640.8+/-399.6;ESP6500_EA_GTC=1645,2004,651;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006569.5:coding-synonymous,NM_001166241.1:coding-synonymous,NM_001166240.1:intron,NM_001166239.1:coding-synonymous;ESP6500_GL=CGREF1;ESP6500_GRCh38_POSITION=2:27101856;ESP6500_GTC=2038,3089,1376;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_006569.5:c.375C>G,NM_001166241.1:c.87C>G,NM_001166240.1:c.342+241C>G,NM_001166239.1:c.375C>G;ESP6500_HGVS_PROTEIN_VAR=NM_006569.5:p.(T125),NM_001166241.1:p.(T29),.,NM_001166239.1:p.(T125);ESP6500_MAF=38.4419,42.4648,44.91;ESP6500_TAC=7165,5841	GT:AD:DP:GQ:PL	0/1:36,34:70:99:868,0,1063
chr2	27101883	rs2384572	G	T	924.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.757;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0.836;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.353;SOR=0.898;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2384572;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|CGREF1|CGREF1|transcript|NM_001166239.1|protein_coding|6/6|c.348C>A|p.Ile116Ile|490/1779|348/957|116/318||,T|synonymous_variant|LOW|CGREF1|CGREF1|transcript|NM_006569.5|protein_coding|6/6|c.348C>A|p.Ile116Ile|641/1930|348/957|116/318||,T|downstream_gene_variant|MODIFIER|KHK|KHK|transcript|NM_000221.2|protein_coding||c.*2133G>T|||||1132|,T|downstream_gene_variant|MODIFIER|KHK|KHK|transcript|NM_006488.2|protein_coding||c.*2133G>T|||||1132|,T|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001166240.1|protein_coding|5/5|c.342+214C>A||||||,T|intron_variant|MODIFIER|CGREF1|CGREF1|transcript|NM_001301324.1|protein_coding|4/5|c.286+132C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2722;p3_1000G_AF=0.54353;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=17848;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.6193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27324751;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1386,3020;ESP6500_AA_AGE=442.7+/-346.8;ESP6500_AA_GTC=211,964,1028;ESP6500_CDS_SIZES=NM_006569.5:957,NM_001166241.1:339,NM_001166240.1:399,NM_001166239.1:957;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=66;ESP6500_EA_AC=5287,3311;ESP6500_EA_AGE=622.4+/-397.3;ESP6500_EA_GTC=1643,2001,655;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006569.5:coding-synonymous,NM_001166241.1:coding-synonymous,NM_001166240.1:intron,NM_001166239.1:coding-synonymous;ESP6500_GL=CGREF1;ESP6500_GRCh38_POSITION=2:27101883;ESP6500_GTC=1854,2965,1683;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_006569.5:c.348C>A,NM_001166241.1:c.60C>A,NM_001166240.1:c.342+214C>A,NM_001166239.1:c.348C>A;ESP6500_HGVS_PROTEIN_VAR=NM_006569.5:p.(I116),NM_001166241.1:p.(I20),.,NM_001166239.1:p.(I116);ESP6500_MAF=38.509,31.4571,48.685;ESP6500_TAC=6673,6331	GT:AD:DP:GQ:PL	0/1:41,41:82:99:953,0,1203
chr2	27128411	rs1866561	G	A	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.289;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=1.18;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1866561;dbSNPBuildID=92;ANN=A|downstream_gene_variant|MODIFIER|PREB|PREB|transcript|NM_013388.4|protein_coding||c.*3003C>T|||||2345|,A|intron_variant|MODIFIER|ABHD1|ABHD1|transcript|NM_032604.3|protein_coding|1/8|c.115-30G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3184;p3_1000G_AF=0.635783;p3_1000G_AFR_AF=0.6172;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=18154;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.6412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27351279;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2759,1647;ESP6500_AA_AGE=657.1+/-400.2;ESP6500_AA_GTC=872,1015,316;ESP6500_CDS_SIZES=NM_032604.3:1218;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=76;ESP6500_EA_AC=5458,3142;ESP6500_EA_AGE=654.5+/-401.2;ESP6500_EA_GTC=1748,1962,590;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032604.3:intron;ESP6500_GL=ABHD1;ESP6500_GRCh38_POSITION=2:27128411;ESP6500_GTC=2620,2977,906;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032604.3:c.115-30G>A;ESP6500_MAF=36.5349,37.3808,36.8215;ESP6500_TAC=8217,4789	GT:AD:DP:GQ:PL	0/1:9,17:26:99:446,0,305
chr2	27130639	rs2304678	G	C	840.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=5.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0.484;SOR=0.328;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304678;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|ABHD1|ABHD1|transcript|NM_032604.3|protein_coding|9/9|c.1113G>C|p.Trp371Cys|1273/1446|1113/1218|371/405||,C|downstream_gene_variant|MODIFIER|PREB|PREB|transcript|NM_013388.4|protein_coding||c.*775C>G|||||117|;p3_1000G_AA=C|||;p3_1000G_AC=1034;p3_1000G_AF=0.20647;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=17809;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27353507;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1222,3184;ESP6500_AA_AGE=705.9+/-407.3;ESP6500_AA_GTC=159,904,1140;ESP6500_CDS_SIZES=NM_032604.3:1218;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=1360,7240;ESP6500_EA_AGE=755.5+/-407.5;ESP6500_EA_GTC=113,1134,3053;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032604.3:missense;ESP6500_GL=ABHD1;ESP6500_GRCh38_POSITION=2:27130639;ESP6500_GS=215;ESP6500_GTC=272,2038,4193;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_032604.3:c.1113G>C;ESP6500_HGVS_PROTEIN_VAR=NM_032604.3:p.(W371C);ESP6500_MAF=15.814,27.7349,19.8524;ESP6500_PH=benign:0.0;ESP6500_TAC=2582,10424	GT:AD:DP:GQ:PL	0/1:22,29:51:99:869,0,628
chr2	27131305	rs11126874	C	A	463.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.13;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11126874;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|PREB|PREB|transcript|NM_013388.4|protein_coding|9/9|c.*109G>T|||||109|,A|downstream_gene_variant|MODIFIER|ABHD1|ABHD1|transcript|NM_032604.3|protein_coding||c.*561C>A|||||493|;p3_1000G_AA=A|||;p3_1000G_AC=4905;p3_1000G_AF=0.979433;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20085;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27354173;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:492,42,0
chr2	27132103	rs11695930	C	T	1141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.425;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=3.047;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.243;SOR=1.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11695930;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|ABHD1|ABHD1|transcript|NM_032604.3|protein_coding||c.*1359C>T|||||1291|,T|downstream_gene_variant|MODIFIER|PRR30|PRR30|transcript|NM_178553.3|protein_coding||c.*4988G>A|||||4744|,T|intron_variant|MODIFIER|PREB|PREB|transcript|NM_013388.4|protein_coding|6/8|c.927-21G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=864;p3_1000G_AF=0.172524;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=19917;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27354971;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=746,3660;ESP6500_AA_AGE=307.7+/-290.2;ESP6500_AA_GTC=69,608,1526;ESP6500_CDS_SIZES=NM_013388.4:1254;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=103;ESP6500_EA_AC=1325,7275;ESP6500_EA_AGE=260.6+/-283.4;ESP6500_EA_GTC=106,1113,3081;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013388.4:intron;ESP6500_GL=PREB;ESP6500_GRCh38_POSITION=2:27132103;ESP6500_GTC=175,1721,4607;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_013388.4:c.927-21G>A;ESP6500_MAF=15.407,16.9315,15.9234;ESP6500_TAC=2071,10935	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1170,0,1056
chr2	27132586	rs4665948	A	C	1369.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665948;dbSNPBuildID=111;ANN=C|downstream_gene_variant|MODIFIER|ABHD1|ABHD1|transcript|NM_032604.3|protein_coding||c.*1842A>C|||||1774|,C|downstream_gene_variant|MODIFIER|PRR30|PRR30|transcript|NM_178553.3|protein_coding||c.*4505T>G|||||4261|,C|intron_variant|MODIFIER|PREB|PREB|transcript|NM_013388.4|protein_coding|5/8|c.752+17T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4929;p3_1000G_AF=0.984225;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18119;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27355454;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4199,207;ESP6500_AA_AGE=124.1+/-161.4;ESP6500_AA_GTC=1999,201,3;ESP6500_CDS_SIZES=NM_013388.4:1254;ESP6500_CG=3.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=54;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013388.4:intron;ESP6500_GL=PREB;ESP6500_GRCh38_POSITION=2:27132586;ESP6500_GTC=6297,203,3;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_013388.4:c.752+17T>G;ESP6500_MAF=0.0233,4.6981,1.607;ESP6500_TAC=12797,209	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1398,120,0
chr2	27133123	rs2289358	G	T	648.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.079;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.085;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.159;SOR=0.957;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289358;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|PREB|PREB|transcript|NM_013388.4|protein_coding|3/9|c.540C>A|p.Val180Val|793/2165|540/1254|180/417||,T|downstream_gene_variant|MODIFIER|ABHD1|ABHD1|transcript|NM_032604.3|protein_coding||c.*2379G>T|||||2311|,T|downstream_gene_variant|MODIFIER|PRR30|PRR30|transcript|NM_178553.3|protein_coding||c.*3968C>A|||||3724|;p3_1000G_AA=G|||;p3_1000G_AC=965;p3_1000G_AF=0.192692;p3_1000G_AFR_AF=0.2708;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=22022;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.162;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27355991;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1012,3394;ESP6500_AA_AGE=377.3+/-322.4;ESP6500_AA_GTC=120,772,1311;ESP6500_CDS_SIZES=NM_013388.4:1254;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=166;ESP6500_EA_AC=1332,7268;ESP6500_EA_AGE=261.2+/-283.7;ESP6500_EA_GTC=108,1116,3076;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013388.4:coding-synonymous;ESP6500_GL=PREB;ESP6500_GRCh38_POSITION=2:27133123;ESP6500_GTC=228,1888,4387;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_013388.4:c.540C>A;ESP6500_HGVS_PROTEIN_VAR=NM_013388.4:p.(V180);ESP6500_MAF=15.4884,22.9687,18.0225;ESP6500_TAC=2344,10662	GT:AD:DP:GQ:PL	0/1:30,26:56:99:677,0,779
chr2	27133410	rs2289359	T	C	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.89;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=10.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.613;SOR=3.877;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289359;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|ABHD1|ABHD1|transcript|NM_032604.3|protein_coding||c.*2666T>C|||||2598|,C|downstream_gene_variant|MODIFIER|PRR30|PRR30|transcript|NM_178553.3|protein_coding||c.*3681A>G|||||3437|,C|intron_variant|MODIFIER|PREB|PREB|transcript|NM_013388.4|protein_coding|2/8|c.326-73A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=983;p3_1000G_AF=0.196286;p3_1000G_AFR_AF=0.2753;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=18441;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.166;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27356278;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:304,0,310
chr2	27138378	rs2304680	C	T	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.733;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.745;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304680;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|PRR30|PRR30|transcript|NM_178553.3|protein_coding|3/3|c.-49G>A|||||49|,T|upstream_gene_variant|MODIFIER|PREB|PREB|transcript|NM_013388.4|protein_coding||c.-3957G>A|||||3704|;p3_1000G_AA=C|||;p3_1000G_AC=1302;p3_1000G_AF=0.259984;p3_1000G_AFR_AF=0.5204;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=21421;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27361246;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2031,2375;ESP6500_AA_AGE=535.9+/-374.3;ESP6500_AA_GTC=465,1101,637;ESP6500_CDS_SIZES=NM_178553.3:1239;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=23;ESP6500_EA_AC=1321,7277;ESP6500_EA_AGE=238.1+/-269.7;ESP6500_EA_GTC=112,1097,3090;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178553.3:utr-5;ESP6500_GL=C2orf53;ESP6500_GRCh38_POSITION=2:27138378;ESP6500_GTC=577,2198,3727;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178553.3:c.-49G>A;ESP6500_MAF=15.364,46.0962,25.7767;ESP6500_TAC=3352,9652	GT:AD:DP:GQ:PL	0/1:15,16:31:99:428,0,468
chr2	27201628	rs1006898	G	A	1241.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1006898;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding|14/16|c.1544+38C>T||||||,A|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene|13/16|n.2391+38C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3995;p3_1000G_AF=0.797724;p3_1000G_AFR_AF=0.4349;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=21488;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9155;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27424496;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2172,2234;ESP6500_AA_AGE=580.9+/-385.2;ESP6500_AA_GTC=529,1114,560;ESP6500_CDS_SIZES=NM_021095.2:1908;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=43;ESP6500_EA_AC=7937,663;ESP6500_EA_AGE=785.3+/-407.6;ESP6500_EA_GTC=3660,617,23;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021095.2:intron;ESP6500_GL=SLC5A6;ESP6500_GRCh38_POSITION=2:27201628;ESP6500_GTC=4189,1731,583;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021095.2:c.1544+38C>T;ESP6500_MAF=7.7093,49.2964,22.2743;ESP6500_TAC=10109,2897	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1270,114,0
chr2	27201768	rs1395	G	A	2042.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=0.899;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1395;dbSNPBuildID=36;ANN=A|missense_variant|MODERATE|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding|14/17|c.1442C>T|p.Ser481Phe|1937/3252|1442/1908|481/635||,A|non_coding_transcript_exon_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene|13/17|n.2289C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2667;p3_1000G_AF=0.532548;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=19434;p3_1000G_EAS_AF=0.8492;p3_1000G_EUR_AF=0.6928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27424636;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1108,3298;ESP6500_AA_AGE=395.4+/-329.6;ESP6500_AA_GTC=145,818,1240;ESP6500_CDS_SIZES=NM_021095.2:1908;ESP6500_CG=4.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=107;ESP6500_EA_AC=5933,2667;ESP6500_EA_AGE=684.0+/-403.9;ESP6500_EA_GTC=2048,1837,415;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021095.2:missense;ESP6500_GL=SLC5A6;ESP6500_GRCh38_POSITION=2:27201768;ESP6500_GS=155;ESP6500_GTC=2193,2655,1655;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021095.2:c.1442C>T;ESP6500_HGVS_PROTEIN_VAR=NM_021095.2:p.(S481F);ESP6500_MAF=31.0116,25.1475,45.8634;ESP6500_PH=benign:0.012;ESP6500_TAC=7041,5965	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2071,186,0
chr2	27203646	rs1275521	G	C	1020.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1275521;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding|10/16|c.1094+133C>G||||||,C|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene|10/16|n.1589+133C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4509;p3_1000G_AF=0.900359;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=20193;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27426514;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1049,84,0
chr2	27204010	rs1275522	C	T	593.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.93;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1275522;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding|9/16|c.1006-143G>A||||||,T|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene|9/16|n.1501-143G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2739;p3_1000G_AF=0.546925;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=13883;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27426878;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:622,51,0
chr2	27205279	rs1298361	A	G	353.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1298361;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding|7/16|c.734+71T>C||||||,G|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene|7/16|n.1229+71T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4983;p3_1000G_AF=0.995008;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18060;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27428147;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:382,33,0
chr2	27205427	rs1275524	A	G	1231.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1275524;dbSNPBuildID=87;ANN=G|synonymous_variant|LOW|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding|7/17|c.657T>C|p.Ile219Ile|1152/3252|657/1908|219/635||,G|non_coding_transcript_exon_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene|7/17|n.1152T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5001;p3_1000G_AF=0.998602;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17145;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27428295;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4390,16;ESP6500_AA_AGE=23.3+/-48.9;ESP6500_AA_GTC=2187,16,0;ESP6500_CDS_SIZES=NM_021095.2:1908;ESP6500_CG=-5.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=74;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021095.2:coding-synonymous;ESP6500_GL=SLC5A6;ESP6500_GRCh38_POSITION=2:27205427;ESP6500_GTC=6487,16,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021095.2:c.657T>C;ESP6500_HGVS_PROTEIN_VAR=NM_021095.2:p.(I219);ESP6500_MAF=0.0,0.3631,0.123;ESP6500_TAC=12990,16	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1260,126,0
chr2	27205947	rs1275526	C	G	1756.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.6;SOR=1.958;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1275526;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding|6/16|c.579+79G>C||||||,G|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene|6/16|n.1074+79G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4089;p3_1000G_AF=0.816494;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=20743;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27428815;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9387;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1785,149,0
chr2	27206009	rs1275527	C	G	2692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.24;SOR=1.193;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1275527;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding|6/16|c.579+17G>C||||||,G|intron_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene|6/16|n.1074+17G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4065;p3_1000G_AF=0.811701;p3_1000G_AFR_AF=0.4349;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=20274;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27428877;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9387;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2180,2226;ESP6500_AA_AGE=593.7+/-388.1;ESP6500_AA_GTC=534,1112,557;ESP6500_CDS_SIZES=NM_021095.2:1908;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=70;ESP6500_EA_AC=8040,560;ESP6500_EA_AGE=151.9+/-206.6;ESP6500_EA_GTC=3758,524,18;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021095.2:intron;ESP6500_GL=SLC5A6;ESP6500_GRCh38_POSITION=2:27206009;ESP6500_GTC=4292,1636,575;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_021095.2:c.579+17G>C;ESP6500_MAF=6.5116,49.478,21.4209;ESP6500_TAC=10220,2786	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2721,242,0
chr2	27212382	rs1275533	A	G	708.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1275533;dbSNPBuildID=87;ANN=G|missense_variant|MODERATE|ATRAID|ATRAID|transcript|NM_080592.3|protein_coding|1/7|c.179A>G|p.Asp60Gly|352/1258|179/855|60/284||,G|missense_variant|MODERATE|ATRAID|ATRAID|transcript|NM_001170795.1|protein_coding|1/7|c.14A>G|p.Asp5Gly|32/938|14/690|5/229||,G|5_prime_UTR_variant|MODIFIER|ATRAID|ATRAID|transcript|NM_016085.4|protein_coding|1/7|c.-301A>G|||||870|,G|upstream_gene_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding||c.-4732T>C|||||75|,G|upstream_gene_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene||n.-75T>C|||||75|;p3_1000G_AA=G|||;p3_1000G_AC=4529;p3_1000G_AF=0.904353;p3_1000G_AFR_AF=0.6762;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=12610;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9861;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27435250;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3086,1076;ESP6500_AA_GTC=1127,832,122;ESP6500_CDS_SIZES=NM_080592.3:855,NM_016085.4:516,NM_001170795.1:690;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=15;ESP6500_EA_AC=8009,123;ESP6500_EA_GTC=3944,121,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080592.3:missense,NM_016085.4:utr-5,NM_001170795.1:missense;ESP6500_GL=ATRAID;ESP6500_GRCh38_POSITION=2:27212382;ESP6500_GS=94,.,94;ESP6500_GTC=5071,953,123;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080592.3:c.179A>G,NM_016085.4:c.-870A>G,NM_001170795.1:c.14A>G;ESP6500_HGVS_PROTEIN_VAR=NM_080592.3:p.(D60G),.,NM_001170795.1:p.(D5G);ESP6500_MAF=1.5125,25.853,9.7527;ESP6500_PH=benign:0.0,.,benign:0.0;ESP6500_TAC=11095,1199	GT:AD:DP:GQ:PL	1/1:0,24:24:72:737,72,0
chr2	27212506	rs11608	G	A	126.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.38;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11608;dbSNPBuildID=52;ANN=A|5_prime_UTR_variant|MODIFIER|ATRAID|ATRAID|transcript|NM_016085.4|protein_coding|1/7|c.-177G>A|||||746|,A|upstream_gene_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NM_021095.2|protein_coding||c.-4856C>T|||||199|,A|upstream_gene_variant|MODIFIER|CAD|CAD|transcript|NM_004341.4|protein_coding||c.-5046G>A|||||4884|,A|upstream_gene_variant|MODIFIER|SLC5A6|SLC5A6|transcript|NR_028323.1|pseudogene||n.-199C>T|||||199|,A|upstream_gene_variant|MODIFIER|CAD|CAD|transcript|NM_001306079.1|protein_coding||c.-5046G>A|||||4884|,A|intron_variant|MODIFIER|ATRAID|ATRAID|transcript|NM_080592.3|protein_coding|1/6|c.264+39G>A||||||,A|intron_variant|MODIFIER|ATRAID|ATRAID|transcript|NM_001170795.1|protein_coding|1/6|c.99+39G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=13662;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27435374;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1279,2933;ESP6500_AA_GTC=247,785,1074;ESP6500_CDS_SIZES=NM_080592.3:855,NM_016085.4:516,NM_001170795.1:690;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=6;ESP6500_EA_AC=5935,2399;ESP6500_EA_GTC=2197,1541,429;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080592.3:intron,NM_016085.4:utr-5,NM_001170795.1:intron;ESP6500_GL=ATRAID;ESP6500_GRCh38_POSITION=2:27212506;ESP6500_GTC=2444,2326,1503;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080592.3:c.264+39G>A,NM_016085.4:c.-746G>A,NM_001170795.1:c.99+39G>A;ESP6500_MAF=28.7857,30.3656,42.4996;ESP6500_TAC=7214,5332	GT:AD:DP:GQ:PL	1/1:0,5:5:15:155,15,0
chr2	27243390	rs5830040;rs767103974;rs878866897	CT	C	217.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.56;SOR=0.412;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5830040;dbSNPBuildID=144,147,137;ANN=C|splice_region_variant&intron_variant|LOW|CAD|CAD|transcript|NM_004341.4|protein_coding|43/43|c.6576-5delT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|CAD|CAD|transcript|NM_001306079.1|protein_coding|42/42|c.6387-5delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:7,10:17:61:206,0,61
chr2	27276923	rs1474330456	CT	C	17.27	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.88;ReadPosRankSum=-0.21;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs374636751,rs60582556;dbSNPBuildID=151;ANN=C|upstream_gene_variant|MODIFIER|SLC30A3|SLC30A3|transcript|NM_001318949.1|protein_coding||c.-1741delA|||||1603|,C|upstream_gene_variant|MODIFIER|SLC30A3|SLC30A3|transcript|NM_001318951.1|protein_coding||c.-1692delA|||||1603|,C|upstream_gene_variant|MODIFIER|SLC30A3|SLC30A3|transcript|NM_001318950.1|protein_coding||c.-1692delA|||||1107|,C|intron_variant|MODIFIER|DNAJC5G|DNAJC5G|transcript|NM_001303127.1|protein_coding|3/6|c.113+103delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|DNAJC5G|DNAJC5G|transcript|NM_001303128.1|protein_coding|3/5|c.113+103delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|DNAJC5G|DNAJC5G|transcript|NM_173650.2|protein_coding|3/6|c.113+103delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|DNAJC5G|DNAJC5G|transcript|NR_130126.1|pseudogene|1/3|n.152-1244delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,5:6:4:53,0,4
chr2	27299675	rs141577308	C	CCTAT	136.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.014;SOR=0.76;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141577308;dbSNPBuildID=134;ANN=CCTAT|intron_variant|MODIFIER|TRIM54|TRIM54|transcript|NM_032546.3|protein_coding|4/9|c.639+58_639+61dupTATC||||||INFO_REALIGN_3_PRIME,CCTAT|intron_variant|MODIFIER|TRIM54|TRIM54|transcript|NM_187841.2|protein_coding|3/8|c.513+297_513+300dupTATC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2043;p3_1000G_AF=0.407947;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=25295;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27522543;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,5:11:99:174,0,283
chr2	27336321	rs76217877	G	C	603.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.779;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-1.075;SOR=0.586;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76217877;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|GTF3C2|GTF3C2|transcript|NM_001318909.1|protein_coding|8/19|c.1265C>G|p.Ala422Gly|1662/3992|1265/2769|422/922||,C|missense_variant|MODERATE|GTF3C2|GTF3C2|transcript|NM_001035521.2|protein_coding|8/19|c.1232C>G|p.Ala411Gly|1552/3882|1232/2736|411/911||,C|missense_variant|MODERATE|GTF3C2|GTF3C2|transcript|NM_001521.3|protein_coding|9/20|c.1232C>G|p.Ala411Gly|1628/3958|1232/2736|411/911||,C|non_coding_transcript_exon_variant|MODIFIER|GTF3C2-AS1|GTF3C2-AS1|transcript|NR_038427.1|pseudogene|2/4|n.209G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=66;p3_1000G_AF=0.0131789;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17564;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27559188;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=8,4398;ESP6500_AA_AGE=14.3+/-33.2;ESP6500_AA_GTC=0,8,2195;ESP6500_CDS_SIZES=NM_001521.2:2736,NM_001035521.1:2736;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=72;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001521.2:missense,NM_001035521.1:missense;ESP6500_GL=GTF3C2;ESP6500_GRCh38_POSITION=2:27336321;ESP6500_GS=60,60;ESP6500_GTC=0,8,6495;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001521.2:c.1232C>G,NM_001035521.1:c.1232C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001521.2:p.(A411G),NM_001035521.1:p.(A411G);ESP6500_MAF=0.0,0.1816,0.0615;ESP6500_PH=possibly-damaging:0.873,possibly-damaging:0.873;ESP6500_TAC=8,12998	GT:AD:DP:GQ:PL	0/1:18,21:39:99:632,0,542
chr2	27375230	rs4665972	T	C	329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.03;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-1.852;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4665972;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|EIF2B4|EIF2B4|transcript|NM_001318966.1|protein_coding||c.-5325A>G|||||4901|,C|upstream_gene_variant|MODIFIER|EIF2B4|EIF2B4|transcript|NM_001034116.1|protein_coding||c.-4916A>G|||||4773|,C|upstream_gene_variant|MODIFIER|EIF2B4|EIF2B4|transcript|NM_001318967.1|protein_coding||c.-5696A>G|||||4773|,C|upstream_gene_variant|MODIFIER|EIF2B4|EIF2B4|transcript|NM_001318969.1|protein_coding||c.-7119A>G|||||4773|,C|upstream_gene_variant|MODIFIER|EIF2B4|EIF2B4|transcript|NM_015636.3|protein_coding||c.-4916A>G|||||4773|,C|downstream_gene_variant|MODIFIER|ZNF513|ZNF513|transcript|NM_144631.5|protein_coding||c.*2315A>G|||||2001|,C|downstream_gene_variant|MODIFIER|ZNF513|ZNF513|transcript|NM_001201459.1|protein_coding||c.*2315A>G|||||2001|,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NM_014748.3|protein_coding|9/14|c.774+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NM_001267059.1|protein_coding|9/14|c.738+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NM_001267060.1|protein_coding|8/13|c.699+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NM_001267061.1|protein_coding|9/14|c.714+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NR_049782.1|pseudogene|9/14|n.1147+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NR_049783.1|pseudogene|10/15|n.1120+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NR_049784.1|pseudogene|10/15|n.1096+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NR_049785.1|pseudogene|8/13|n.1029+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NR_049786.1|pseudogene|9/14|n.978+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NR_049787.1|pseudogene|7/12|n.829+77T>C||||||,C|intron_variant|MODIFIER|SNX17|SNX17|transcript|NR_049788.1|pseudogene|6/11|n.759+77T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3598;p3_1000G_AF=0.71845;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=14942;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27598097;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:358,0,314
chr2	27508073	rs1260326;8751	T	C	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.03;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=12.548;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.708;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1260326;dbSNPBuildID=87;ANN=C|missense_variant&splice_region_variant|MODERATE|GCKR|GCKR|transcript|NM_001486.3|protein_coding|15/19|c.1337T>C|p.Leu446Pro|1403/2188|1337/1878|446/625||;p3_1000G_AA=C|||;p3_1000G_AC=3539;p3_1000G_AF=0.706669;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=17520;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.5895;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27730940;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3776,630;ESP6500_AA_AGE=270.1+/-269.4;ESP6500_AA_GTC=1614,548,41;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...18454146,19060906,19060910,20081857,20383146,20657596,20686565,21300955,21943158,22001757,22139419,22286219,22558069,22916037,23022100,23118302,23263486;ESP6500_CDS_SIZES=NM_001486.3:1878;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=65;ESP6500_EA_AC=5015,3585;ESP6500_EA_AGE=519.5+/-379.5;ESP6500_EA_GTC=1454,2107,739;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001486.3:missense-near-splice;ESP6500_GL=GCKR;ESP6500_GRCh38_POSITION=2:27508073;ESP6500_GS=98;ESP6500_GTC=3068,2655,780;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...18454146,19060906,19060910,20081857,20383146,20657596,20686565,21300955,21943158,22001757,22139419,22286219,22558069,22916037,23022100,23118302,23263486;ESP6500_HGVS_CDNA_VAR=NM_001486.3:c.1337T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001486.3:p.(L446P);ESP6500_MAF=41.686,14.2987,32.4081;ESP6500_PH=benign:0.0;ESP6500_TAC=8791,4215;CLINVAR_ALLELEID=23790;CLINVAR_CLNDISDB=MedGen:C3150714,OMIM:613463;CLINVAR_CLNDN=Fasting_plasma_glucose_level_quantitative_trait_locus_5;CLINVAR_CLNHGVS=NC_000002.12:g.27508073T>C;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=association;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:600842.0001;CLINVAR_GENEINFO=GCKR:2646;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1260326	GT:AD:DP:GQ:PL	0/1:24,16:40:99:488,0,602
chr2	27518688	rs8179235	T	C	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.921;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8179235;dbSNPBuildID=117;ANN=C|intron_variant|MODIFIER|GCKR|GCKR|transcript|NM_001486.3|protein_coding|16/18|c.1423-100T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=110;p3_1000G_AF=0.0219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=18996;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27741555;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:104,0,159
chr2	27566994	rs965813	T	A	670.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.097;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.283;SOR=0.442;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs965813;dbSNPBuildID=86;ANN=A|intergenic_region|MODIFIER|GCKR-C2orf16|GCKR-C2orf16|intergenic_region|GCKR-C2orf16|||n.27566994T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1263;p3_1000G_AF=0.252196;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=18406;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27789861;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,29:52:99:699,0,615
chr2	27578536	rs1919125	C	G	2487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.57;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1919125;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|C2orf16|C2orf16|transcript|NM_032266.3|protein_coding|1/1|c.1964C>G|p.Thr655Ser|2015/6201|1964/5955|655/1984||,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding||c.-4577C>G|||||4433|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding||c.-4577C>G|||||4433|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding||c.-19673C>G|||||4433|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding||c.-19673C>G|||||4433|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding||c.-19673C>G|||||4433|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding||c.-19673C>G|||||4433|;p3_1000G_AA=T|||;p3_1000G_AC=3303;p3_1000G_AF=0.659545;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=21823;p3_1000G_EAS_AF=0.8462;p3_1000G_EUR_AF=0.498;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27801403;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2616,1152;ESP6500_AA_GTC=902,812,170;ESP6500_CDS_SIZES=NM_032266.3:5955;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=95;ESP6500_EA_AC=4085,4151;ESP6500_EA_GTC=1029,2027,1062;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032266.3:missense;ESP6500_GL=C2orf16;ESP6500_GRCh38_POSITION=2:27578536;ESP6500_GS=58;ESP6500_GTC=1931,2839,1232;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_032266.3:c.1964C>G;ESP6500_HGVS_PROTEIN_VAR=NM_032266.3:p.(T655S);ESP6500_MAF=49.5993,30.5732,44.1769;ESP6500_PH=benign:0.001;ESP6500_TAC=6701,5303	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,56:56:99:1|1:27578536_C_G:2516,169,0
chr2	27578551	rs1919126	C	A	2587.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=0.796;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1919126;dbSNPBuildID=92;ANN=A|missense_variant|MODERATE|C2orf16|C2orf16|transcript|NM_032266.3|protein_coding|1/1|c.1979C>A|p.Ala660Glu|2030/6201|1979/5955|660/1984||,A|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding||c.-4562C>A|||||4418|,A|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding||c.-4562C>A|||||4418|,A|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding||c.-19658C>A|||||4418|,A|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding||c.-19658C>A|||||4418|,A|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding||c.-19658C>A|||||4418|,A|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding||c.-19658C>A|||||4418|;p3_1000G_AA=A|||;p3_1000G_AC=3303;p3_1000G_AF=0.659545;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=21677;p3_1000G_EAS_AF=0.8462;p3_1000G_EUR_AF=0.498;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27801418;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2621,1157;ESP6500_AA_GTC=901,819,169;ESP6500_CDS_SIZES=NM_032266.3:5955;ESP6500_CG=-3.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=95;ESP6500_EA_AC=4093,4147;ESP6500_EA_GTC=1033,2027,1060;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032266.3:missense;ESP6500_GL=C2orf16;ESP6500_GRCh38_POSITION=2:27578551;ESP6500_GS=107;ESP6500_GTC=1934,2846,1229;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_032266.3:c.1979C>A;ESP6500_HGVS_PROTEIN_VAR=NM_032266.3:p.(A660E);ESP6500_MAF=49.6723,30.6247,44.1338;ESP6500_PH=benign:0.0;ESP6500_TAC=6714,5304	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,59:59:99:1|1:27578536_C_G:2616,178,0
chr2	27578626	rs1919127	T	C	505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.48;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.11;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1919127;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|C2orf16|C2orf16|transcript|NM_032266.3|protein_coding|1/1|c.2054T>C|p.Val685Ala|2105/6201|2054/5955|685/1984||,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding||c.-4487T>C|||||4343|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding||c.-4487T>C|||||4343|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding||c.-19583T>C|||||4343|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding||c.-19583T>C|||||4343|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding||c.-19583T>C|||||4343|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding||c.-19583T>C|||||4343|;p3_1000G_AA=T|||;p3_1000G_AC=1539;p3_1000G_AF=0.307308;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=21205;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.2644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27801493;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=687,3047;ESP6500_AA_GTC=60,567,1240;ESP6500_CDS_SIZES=NM_032266.3:5955;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=79;ESP6500_EA_AC=2218,6008;ESP6500_EA_GTC=299,1620,2194;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032266.3:missense;ESP6500_GL=C2orf16;ESP6500_GRCh38_POSITION=2:27578626;ESP6500_GS=64;ESP6500_GTC=359,2187,3434;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032266.3:c.2054T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032266.3:p.(V685A);ESP6500_MAF=26.9633,18.3985,24.2893;ESP6500_PH=benign:0.408;ESP6500_TAC=2905,9055	GT:AD:DP:GQ:PL	0/1:36,19:55:99:534,0,860
chr2	27578892	rs1919128	A	G	714.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=1.13;SOR=0.68;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1919128;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|C2orf16|C2orf16|transcript|NM_032266.3|protein_coding|1/1|c.2320A>G|p.Ile774Val|2371/6201|2320/5955|774/1984||,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding||c.-4221A>G|||||4077|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding||c.-4221A>G|||||4077|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding||c.-19317A>G|||||4077|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding||c.-19317A>G|||||4077|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding||c.-19317A>G|||||4077|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding||c.-19317A>G|||||4077|;p3_1000G_AA=A|||;p3_1000G_AC=1344;p3_1000G_AF=0.268371;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=19920;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.2644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27801759;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=266,3382;ESP6500_AA_GTC=4,258,1562;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21386085;ESP6500_CDS_SIZES=NM_032266.3:5955;ESP6500_CG=1.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=159;ESP6500_EA_AC=2207,5947;ESP6500_EA_GTC=300,1607,2170;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032266.3:missense;ESP6500_GL=C2orf16;ESP6500_GRCh38_POSITION=2:27578892;ESP6500_GS=29;ESP6500_GTC=304,1865,3732;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21386085;ESP6500_HGVS_CDNA_VAR=NM_032266.3:c.2320A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032266.3:p.(I774V);ESP6500_MAF=27.0665,7.2917,20.9541;ESP6500_PH=probably-damaging:0.967;ESP6500_TAC=2473,9329	GT:AD:DP:GQ:PL	0/1:22,24:46:99:743,0,576
chr2	27579938	rs3811644	A	G	1026.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=2.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-0.636;SOR=0.973;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811644;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|C2orf16|C2orf16|transcript|NM_032266.3|protein_coding|1/1|c.3366A>G|p.Leu1122Leu|3417/6201|3366/5955|1122/1984||,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding||c.-3175A>G|||||3031|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding||c.-3175A>G|||||3031|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding||c.-18271A>G|||||3031|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding||c.-18271A>G|||||3031|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding||c.-18271A>G|||||3031|,G|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding||c.-18271A>G|||||3031|;p3_1000G_AA=A|||;p3_1000G_AC=1025;p3_1000G_AF=0.204673;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=20009;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.2137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27802805;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=293,3591;ESP6500_AA_GTC=6,281,1655;ESP6500_CDS_SIZES=NM_032266.3:5955;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=109;ESP6500_EA_AC=1677,6613;ESP6500_EA_GTC=169,1339,2637;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032266.3:coding-synonymous;ESP6500_GL=C2orf16;ESP6500_GRCh38_POSITION=2:27579938;ESP6500_GTC=175,1620,4292;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032266.3:c.3366A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032266.3:p.(L1122);ESP6500_MAF=20.2292,7.5438,16.182;ESP6500_TAC=1970,10204	GT:AD:DP:GQ:PL	0/1:27,36:63:99:1055,0,677
chr2	27581565	rs28381983	T	C	3163.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.74;QD=33.66;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28381983;dbSNPBuildID=125;ANN=C|missense_variant|MODERATE|C2orf16|C2orf16|transcript|NM_032266.3|protein_coding|1/1|c.4993T>C|p.Ser1665Pro|5044/6201|4993/5955|1665/1984||,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding||c.-1548T>C|||||1404|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding||c.-1548T>C|||||1404|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding||c.-16644T>C|||||1404|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding||c.-16644T>C|||||1404|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding||c.-16644T>C|||||1404|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding||c.-16644T>C|||||1404|;p3_1000G_AA=C|||;p3_1000G_AC=3478;p3_1000G_AF=0.694489;p3_1000G_AFR_AF=0.8502;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=19630;p3_1000G_EAS_AF=0.8452;p3_1000G_EUR_AF=0.506;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27804432;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2957,853;ESP6500_AA_GTC=1143,671,91;ESP6500_CDS_SIZES=NM_032266.3:5955;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=157;ESP6500_EA_AC=4132,4110;ESP6500_EA_GTC=1057,2018,1046;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032266.3:missense;ESP6500_GL=C2orf16;ESP6500_GRCh38_POSITION=2:27581565;ESP6500_GS=74;ESP6500_GTC=2200,2689,1137;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032266.3:c.4993T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032266.3:p.(S1665P);ESP6500_MAF=49.8665,22.3885,41.1799;ESP6500_PH=benign:0.0;ESP6500_TAC=7089,4963	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3192,282,0
chr2	27581795	rs756161426	CCATCACAGTCCCTCTGAGAGAAGA	C	658.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=137;ExcessHet=3.0103;FS=1.632;MLEAC=1;MLEAF=0.5;MQ=59.46;MQRankSum=-2.878;QD=6.04;ReadPosRankSum=-1.019;SOR=0.736;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|disruptive_inframe_deletion|MODERATE|C2orf16|C2orf16|transcript|NM_032266.3|protein_coding|1/1|c.5247_5270delACATCACAGTCCCTCTGAGAGAAG|p.Arg1749_Arg1756del|5298/6201|5247/5955|1749/1984||INFO_REALIGN_3_PRIME,C|sequence_feature|LOW|C2orf16|C2orf16|repeat:15|NM_032266.3|protein_coding|1/1|c.5224_5247delCATCACAGTCCCTCTGAGAGAAGA||||||,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding||c.-1317_-1294delCATCACAGTCCCTCTGAGAGAAGA|||||1173|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding||c.-1317_-1294delCATCACAGTCCCTCTGAGAGAAGA|||||1173|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding||c.-16413_-16390delCATCACAGTCCCTCTGAGAGAAGA|||||1173|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding||c.-16413_-16390delCATCACAGTCCCTCTGAGAGAAGA|||||1173|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding||c.-16413_-16390delCATCACAGTCCCTCTGAGAGAAGA|||||1173|,C|upstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding||c.-16413_-16390delCATCACAGTCCCTCTGAGAGAAGA|||||1173|;ESP6500_AA_AC=54,3582;ESP6500_AA_GTC=5,44,1769;ESP6500_CDS_SIZES=NM_032266.3:5955;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DP=194;ESP6500_EA_AC=26,7862;ESP6500_EA_GTC=8,10,3926;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032266.3:coding;ESP6500_GL=C2orf16;ESP6500_GRCh38_POSITION=2:27581795;ESP6500_GTC=13,54,5695;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_032266.3:c.5224_5247del24;ESP6500_HGVS_PROTEIN_VAR=NM_032266.3:p.(H1742_R1749del8);ESP6500_MAF=0.3296,1.4851,0.6942;ESP6500_TAC=80,11444	GT:AD:DP:GQ:PL	0/1:73,36:109:99:696,0,8555
chr2	27601301	rs56725354	G	C	947.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.481;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=15.888;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=1.76;SOR=2.888;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56725354;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding|6/13|c.583-55G>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding|5/12|c.496-55G>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding|5/12|c.352-55G>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding|5/12|c.352-55G>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding|5/12|c.268-55G>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding|7/14|c.352-55G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1206;p3_1000G_AF=0.240815;p3_1000G_AFR_AF=0.1762;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=18803;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27824168;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=242,1142;ESP6500_AA_GTC=18,206,468;ESP6500_CDS_SIZES=NM_032434.2:1704;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=138;ESP6500_EA_AC=661,2521;ESP6500_EA_GTC=65,531,995;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032434.2:intron;ESP6500_GL=ZNF512;ESP6500_GRCh38_POSITION=2:27601301;ESP6500_GTC=83,737,1463;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_032434.2:c.583-55G>C;ESP6500_MAF=20.7731,17.4855,19.7766;ESP6500_TAC=903,3663	GT:AD:DP:GQ:PL	0/1:25,30:55:99:976,0,643
chr2	27615191	rs11127071	C	A	896.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.17;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11127071;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding|11/14|c.1155C>A|p.Leu385Leu|1299/3602|1155/1704|385/567||,A|synonymous_variant|LOW|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding|10/13|c.1068C>A|p.Leu356Leu|1212/3515|1068/1617|356/538||,A|synonymous_variant|LOW|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding|10/13|c.924C>A|p.Leu308Leu|1240/3543|924/1473|308/490||,A|synonymous_variant|LOW|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding|10/13|c.924C>A|p.Leu308Leu|1237/3540|924/1473|308/490||,A|synonymous_variant|LOW|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding|10/13|c.840C>A|p.Leu280Leu|1201/3504|840/1389|280/462||,A|synonymous_variant|LOW|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding|12/15|c.924C>A|p.Leu308Leu|1400/3703|924/1473|308/490||;p3_1000G_AA=A|||;p3_1000G_AC=3269;p3_1000G_AF=0.652756;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=17541;p3_1000G_EAS_AF=0.8452;p3_1000G_EUR_AF=0.497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27838058;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2965,1441;ESP6500_AA_AGE=466.0+/-354.4;ESP6500_AA_GTC=979,1007,217;ESP6500_CDS_SIZES=NM_032434.2:1704;ESP6500_CG=-6.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=170;ESP6500_EA_AC=4252,4348;ESP6500_EA_AGE=581.1+/-391.2;ESP6500_EA_GTC=1064,2124,1112;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032434.2:coding-synonymous;ESP6500_GL=ZNF512;ESP6500_GRCh38_POSITION=2:27615191;ESP6500_GTC=2043,3131,1329;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_032434.2:c.1155C>A;ESP6500_HGVS_PROTEIN_VAR=NM_032434.2:p.(L385);ESP6500_MAF=49.4419,32.7054,44.5102;ESP6500_TAC=7217,5789	GT:AD:DP:GQ:PL	1/1:0,33:33:99:925,99,0
chr2	27616240	rs6737921	T	C	799.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6737921;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding|11/13|c.1234-22T>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding|10/12|c.1147-22T>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding|10/12|c.1003-22T>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding|10/12|c.1003-22T>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding|10/12|c.919-22T>C||||||,C|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding|12/14|c.1003-22T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3269;p3_1000G_AF=0.652756;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=18974;p3_1000G_EAS_AF=0.8452;p3_1000G_EUR_AF=0.497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27839107;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2966,1440;ESP6500_AA_AGE=465.7+/-354.3;ESP6500_AA_GTC=979,1008,216;ESP6500_CDS_SIZES=NM_032434.2:1704;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=141;ESP6500_EA_AC=4254,4346;ESP6500_EA_AGE=580.9+/-391.1;ESP6500_EA_GTC=1065,2124,1111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032434.2:intron;ESP6500_GL=ZNF512;ESP6500_GRCh38_POSITION=2:27616240;ESP6500_GTC=2044,3132,1327;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032434.2:c.1234-22T>C;ESP6500_MAF=49.4651,32.6827,44.4872;ESP6500_TAC=7220,5786	GT:AD:DP:GQ:PL	1/1:0,28:28:84:828,84,0
chr2	27617672	rs4666001	A	G	497.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.3;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.74;ReadPosRankSum=0.455;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4666001;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding|13/13|c.1395+101A>G||||||,G|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding|12/12|c.1308+101A>G||||||,G|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding|12/12|c.1164+101A>G||||||,G|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding|12/12|c.1164+101A>G||||||,G|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding|12/12|c.1080+101A>G||||||,G|intron_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding|14/14|c.1164+101A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=420;p3_1000G_AF=0.0838658;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=18840;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27840539;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,15:24:99:526,0,226
chr2	27627032	rs116976623	A	G	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.58;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=0.794;SOR=0.497;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116976623;dbSNPBuildID=132;ANN=G|synonymous_variant|LOW|CCDC121|CCDC121|transcript|NM_001142683.2|protein_coding|2/2|c.1254T>C|p.Asn418Asn|1369/2762|1254/1323|418/440||,G|synonymous_variant|LOW|CCDC121|CCDC121|transcript|NM_024584.4|protein_coding|2/2|c.768T>C|p.Asn256Asn|968/2361|768/837|256/278||,G|upstream_gene_variant|MODIFIER|GPN1|GPN1|transcript|NM_007266.3|protein_coding||c.-1985A>G|||||1964|,G|upstream_gene_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145047.1|protein_coding||c.-1676A>G|||||1616|,G|upstream_gene_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145048.1|protein_coding||c.-4027A>G|||||1616|,G|upstream_gene_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145049.1|protein_coding||c.-2894A>G|||||1616|,G|upstream_gene_variant|MODIFIER|GPN1|GPN1|transcript|NR_026735.1|pseudogene||n.-1964A>G|||||1964|,G|downstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_032434.3|protein_coding||c.*5571A>G|||||3817|,G|downstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271286.1|protein_coding||c.*5571A>G|||||3817|,G|downstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271287.1|protein_coding||c.*5571A>G|||||3817|,G|downstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271288.1|protein_coding||c.*5571A>G|||||3817|,G|downstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271289.1|protein_coding||c.*5571A>G|||||3817|,G|downstream_gene_variant|MODIFIER|ZNF512|ZNF512|transcript|NM_001271318.1|protein_coding||c.*5571A>G|||||3817|;p3_1000G_AA=A|||;p3_1000G_AC=43;p3_1000G_AF=0.00858626;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20714;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27849899;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=7,4399;ESP6500_AA_AGE=12.9+/-30.5;ESP6500_AA_GTC=0,7,2196;ESP6500_CDS_SIZES=NM_024584.4:837,NM_001142683.2:1323;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=139;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024584.4:coding-synonymous,NM_001142683.2:coding-synonymous;ESP6500_GL=CCDC121;ESP6500_GRCh38_POSITION=2:27627032;ESP6500_GTC=0,7,6496;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024584.4:c.768T>C,NM_001142683.2:c.1254T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024584.4:p.(N256),NM_001142683.2:p.(N418);ESP6500_MAF=0.0,0.1589,0.0538;ESP6500_TAC=7,12999	GT:AD:DP:GQ:PL	0/1:25,11:36:99:327,0,669
chr2	27629250	rs60089768	A	AGGTCTT	1224.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=1.302;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs60089768;dbSNPBuildID=129;ANN=AGGTCTT|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_001142683.2|protein_coding||c.-488_-487insAAGACC|||||373|,AGGTCTT|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_024584.4|protein_coding||c.-1452_-1451insAAGACC|||||220|,AGGTCTT|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_007266.3|protein_coding|1/13|c.153+81_153+82insGGTCTT||||||,AGGTCTT|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145047.1|protein_coding|1/14|c.8-125_8-124insGGTCTT||||||,AGGTCTT|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145048.1|protein_coding|1/13|c.-127+536_-127+537insGGTCTT||||||,AGGTCTT|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145049.1|protein_coding|1/11|c.-68+536_-68+537insGGTCTT||||||,AGGTCTT|intron_variant|MODIFIER|GPN1|GPN1|transcript|NR_026735.1|pseudogene|1/11|n.174+81_174+82insGGTCTT||||||;p3_1000G_AC=3238;p3_1000G_AF=0.646565;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=17505;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27852117;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:87:1|1:27629250_A_AGGTCTT:1262,87,0
chr2	27629251	rs58737572	A	C	1233.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs58737572;dbSNPBuildID=129;ANN=C|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_001142683.2|protein_coding||c.-488T>G|||||373|,C|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_024584.4|protein_coding||c.-1452T>G|||||220|,C|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_007266.3|protein_coding|1/13|c.153+82A>C||||||,C|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145047.1|protein_coding|1/14|c.8-124A>C||||||,C|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145048.1|protein_coding|1/13|c.-127+537A>C||||||,C|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145049.1|protein_coding|1/11|c.-68+537A>C||||||,C|intron_variant|MODIFIER|GPN1|GPN1|transcript|NR_026735.1|pseudogene|1/11|n.174+82A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3246;p3_1000G_AF=0.648163;p3_1000G_AFR_AF=0.6702;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=14996;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27852118;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:87:1|1:27629250_A_AGGTCTT:1262,87,0
chr2	27629283	rs146892484	C	CG	936.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=0.76;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs146892484;dbSNPBuildID=134;ANN=CG|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_001142683.2|protein_coding||c.-521dupC|||||406|,CG|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_024584.4|protein_coding||c.-1485dupC|||||253|,CG|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_007266.3|protein_coding|1/13|c.153+119dupG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145047.1|protein_coding|1/14|c.8-87dupG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145048.1|protein_coding|1/13|c.-126-571dupG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145049.1|protein_coding|1/11|c.-67-571dupG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|GPN1|GPN1|transcript|NR_026735.1|pseudogene|1/11|n.174+119dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGG|GGGGG|GGGGGG|insertion;p3_1000G_AC=1346;p3_1000G_AF=0.26877;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=16113;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27852150;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,29:29:90:974,90,0
chr2	27629770	rs6547738	A	G	984.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6547738;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_001142683.2|protein_coding||c.-1007T>C|||||892|,G|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_024584.4|protein_coding||c.-1971T>C|||||739|,G|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_007266.3|protein_coding|1/13|c.154-89A>G||||||,G|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145047.1|protein_coding|2/14|c.76-89A>G||||||,G|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145048.1|protein_coding|1/13|c.-126-89A>G||||||,G|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145049.1|protein_coding|1/11|c.-67-89A>G||||||,G|intron_variant|MODIFIER|GPN1|GPN1|transcript|NR_026735.1|pseudogene|1/11|n.175-89A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3226;p3_1000G_AF=0.644169;p3_1000G_AFR_AF=0.649;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=20460;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27852637;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:1013,72,0
chr2	27632530	rs10173720	A	T	486.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10173720;dbSNPBuildID=119;ANN=T|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_001142683.2|protein_coding||c.-3767T>A|||||3652|,T|upstream_gene_variant|MODIFIER|CCDC121|CCDC121|transcript|NM_024584.4|protein_coding||c.-4731T>A|||||3499|,T|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_007266.3|protein_coding|4/13|c.355-103A>T||||||,T|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145047.1|protein_coding|5/14|c.277-103A>T||||||,T|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145048.1|protein_coding|4/13|c.76-103A>T||||||,T|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145049.1|protein_coding|2/11|c.28-103A>T||||||,T|intron_variant|MODIFIER|GPN1|GPN1|transcript|NR_026735.1|pseudogene|2/11|n.269-103A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1612;p3_1000G_AF=0.321885;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=20355;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.2237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27855397;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:515,45,0
chr2	27635125	rs4666009	T	A	1666.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666009;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_007266.3|protein_coding|6/13|c.472-15T>A||||||,A|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145047.1|protein_coding|7/14|c.394-15T>A||||||,A|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145048.1|protein_coding|6/13|c.193-15T>A||||||,A|intron_variant|MODIFIER|GPN1|GPN1|transcript|NM_001145049.1|protein_coding|4/11|c.145-15T>A||||||,A|intron_variant|MODIFIER|GPN1|GPN1|transcript|NR_026735.1|pseudogene|4/11|n.386-15T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3390;p3_1000G_AF=0.676917;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=20073;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.5;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27857992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3060,1346;ESP6500_AA_AGE=447.5+/-348.4;ESP6500_AA_GTC=1049,962,192;ESP6500_CDS_SIZES=NM_007266.3:1167,NM_001145049.1:840,NM_001145048.1:888,NM_001145047.1:1089;ESP6500_CG=0.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=173;ESP6500_EA_AC=4271,4329;ESP6500_EA_AGE=579.7+/-390.9;ESP6500_EA_GTC=1074,2123,1103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007266.3:intron,NM_001145049.1:intron,NM_001145048.1:intron,NM_001145047.1:intron;ESP6500_GL=GPN1;ESP6500_GRCh38_POSITION=2:27635125;ESP6500_GTC=2123,3085,1295;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_007266.3:c.472-15T>A,NM_001145049.1:c.145-15T>A,NM_001145048.1:c.193-15T>A,NM_001145047.1:c.394-15T>A;ESP6500_MAF=49.6628,30.5493,43.6337;ESP6500_TAC=7331,5675	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1695,159,0
chr2	27662011	rs1569152	C	T	671.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.59;SOR=3.716;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1569152;dbSNPBuildID=88;ANN=T|upstream_gene_variant|MODIFIER|SLC4A1AP|SLC4A1AP|transcript|NM_018158.2|protein_coding||c.-1742C>T|||||1460|,T|intron_variant|MODIFIER|SUPT7L|SUPT7L|transcript|NM_001282729.1|protein_coding|2/5|c.14+168G>A||||||,T|intron_variant|MODIFIER|SUPT7L|SUPT7L|transcript|NM_001282730.1|protein_coding|2/5|c.-206+168G>A||||||,T|intron_variant|MODIFIER|SUPT7L|SUPT7L|transcript|NM_001282731.1|protein_coding|2/5|c.-48+168G>A||||||,T|intron_variant|MODIFIER|SUPT7L|SUPT7L|transcript|NM_001282732.1|protein_coding|2/4|c.14+168G>A||||||,T|intron_variant|MODIFIER|SUPT7L|SUPT7L|transcript|NM_014860.2|protein_coding|2/5|c.14+168G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4965;p3_1000G_AF=0.991414;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=22404;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27884878;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:700,60,0
chr2	27861663	rs56729802;rs748284115	T	TGG	57.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.08;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141374929,rs56729802;dbSNPBuildID=144,129;ANN=TGG|intron_variant|MODIFIER|RBKS|RBKS|transcript|NM_022128.2|protein_coding|1/7|c.90-3094_90-3093dupCC||||||,TGG|intron_variant|MODIFIER|RBKS|RBKS|transcript|NM_001287580.1|protein_coding|2/8|c.-112-3094_-112-3093dupCC||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:27861663_T_TGG:94,9,0
chr2	28392945	rs796941522	GGA	G	73.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.253;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.21;ReadPosRankSum=0.634;SOR=0.33;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72195155;dbSNPBuildID=146;ANN=G|5_prime_UTR_variant|MODIFIER|FOSL2|FOSL2|transcript|NM_005253.3|protein_coding|1/4|c.-756_-755delAG|||||755|INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|FLJ31356|FLJ31356|transcript|NR_103831.1|pseudogene|1/1|n.125+1601_125+1602delTC||||||	GT:AD:DP:GQ:PL	0/1:18,5:23:99:111,0,556
chr2	28411923	rs12624279	G	A	909.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12624279;dbSNPBuildID=120;ANN=A|splice_region_variant&intron_variant|LOW|FOSL2|FOSL2|transcript|NM_005253.3|protein_coding|3/3|c.463-7G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1473;p3_1000G_AF=0.294129;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=19740;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.4056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28634790;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1131,3275;ESP6500_AA_AGE=363.4+/-316.5;ESP6500_AA_GTC=161,809,1233;ESP6500_CDS_SIZES=NM_005253.3:981;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=40;ESP6500_EA_AC=3554,5046;ESP6500_EA_AGE=498.5+/-374.8;ESP6500_EA_GTC=747,2060,1493;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005253.3:intron;ESP6500_GL=FOSL2;ESP6500_GRCh38_POSITION=2:28411923;ESP6500_GTC=908,2869,2726;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005253.3:c.463-7G>A;ESP6500_MAF=41.3256,25.6695,36.0218;ESP6500_TAC=4685,8321	GT:AD:DP:GQ:PL	1/1:0,32:32:96:938,96,0
chr2	28496030	rs4665423	A	G	481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665423;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding||c.-85A>G|||||41|,G|upstream_gene_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding||c.-85A>G|||||41|,G|intergenic_region|MODIFIER|FOSL2-PLB1|FOSL2-PLB1|intergenic_region|FOSL2-PLB1|||n.28496030A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4829;p3_1000G_AF=0.964257;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=18771;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28718897;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:510,39,0
chr2	28525990	rs4666085	T	C	1126.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=1.418;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666085;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|6/57|c.325+45T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|6/56|c.325+45T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4846;p3_1000G_AF=0.967652;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=16631;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28748857;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4385,21;ESP6500_AA_AGE=26.2+/-53.5;ESP6500_AA_GTC=2182,21,0;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=88;ESP6500_EA_AC=8343,257;ESP6500_EA_AGE=97.9+/-159.5;ESP6500_EA_GTC=4051,241,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28525990;ESP6500_GTC=6233,262,8;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.325+45T>C,NM_001170585.1:c.325+45T>C;ESP6500_MAF=2.9884,0.4766,2.1375;ESP6500_TAC=12728,278	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1155,102,0
chr2	28529631	rs6728486	T	C	1187.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6728486;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|7/57|c.417-97T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|7/56|c.417-97T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4844;p3_1000G_AF=0.967252;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=18382;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28752498;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1216,99,0
chr2	28529688	rs4473343	T	C	1325.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4473343;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|7/57|c.417-40T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|7/56|c.417-40T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4536;p3_1000G_AF=0.905751;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=17231;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28752555;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3742,664;ESP6500_AA_AGE=281.9+/-276.2;ESP6500_AA_GTC=1592,558,53;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=67;ESP6500_EA_AC=8020,580;ESP6500_EA_AGE=155.1+/-209.2;ESP6500_EA_GTC=3744,532,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28529688;ESP6500_GTC=5336,1090,77;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.417-40T>C,NM_001170585.1:c.417-40T>C;ESP6500_MAF=6.7442,15.0704,9.5648;ESP6500_TAC=11762,1244	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1354,117,0
chr2	28529860	rs6710800	C	G	1115.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=2.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6710800;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|8/57|c.468+81C>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|8/56|c.468+81C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4843;p3_1000G_AF=0.967053;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=15207;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28752727;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:28529860_C_G:1144,81,0
chr2	28529874	rs6725577	A	G	1001.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.13;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6725577;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|8/57|c.468+95A>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|8/56|c.468+95A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4545;p3_1000G_AF=0.907548;p3_1000G_AFR_AF=0.8343;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=16046;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28752741;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:69:1|1:28529860_C_G:1030,69,0
chr2	28538390	rs7589169	A	G	221.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7589169;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|10/57|c.618+9A>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|10/56|c.651+9A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4268;p3_1000G_AF=0.852236;p3_1000G_AFR_AF=0.6581;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=12556;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28761257;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3174,1230;ESP6500_AA_AGE=401.3+/-331.9;ESP6500_AA_GTC=1135,904,163;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=28;ESP6500_EA_AC=7987,611;ESP6500_EA_AGE=153.0+/-207.5;ESP6500_EA_GTC=3715,557,27;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28538390;ESP6500_GTC=4850,1461,190;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.618+9A>G,NM_001170585.1:c.651+9A>G;ESP6500_MAF=7.1063,27.9292,14.1594;ESP6500_TAC=11161,1841	GT:AD:DP:GQ:PL	1/1:0,6:6:18:250,18,0
chr2	28538415	rs7589254	A	G	175.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7589254;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|10/57|c.618+34A>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|10/56|c.651+34A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4273;p3_1000G_AF=0.853235;p3_1000G_AFR_AF=0.6619;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=14661;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28761282;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3174,1228;ESP6500_AA_GTC=1145,884,172;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=19;ESP6500_EA_AC=7971,623;ESP6500_EA_GTC=3710,551,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28538415;ESP6500_GTC=4855,1435,208;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.618+34A>G,NM_001170585.1:c.651+34A>G;ESP6500_MAF=7.2492,27.8964,14.2428;ESP6500_TAC=11145,1851	GT:AD:DP:GQ:PL	1/1:0,5:5:15:204,15,0
chr2	28541585	rs13406540	C	T	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.21;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13406540;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|12/57|c.775-122C>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|12/56|c.808-122C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2733;p3_1000G_AF=0.545727;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=15750;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.4533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28764452;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:28541585_C_T:270,18,0
chr2	28541591	rs11127163	C	A	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.18;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11127163;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|12/57|c.775-116C>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|12/56|c.808-116C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4458;p3_1000G_AF=0.890176;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=15670;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28764458;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:28541585_C_T:270,18,0
chr2	28543051	rs117490216	G	T	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.25;ReadPosRankSum=0.799;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117490216;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|13/57|c.880-161G>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|13/56|c.913-161G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=390;p3_1000G_AF=0.0778754;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=18070;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28765918;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:75:75,0,234
chr2	28548585	rs56019402;rs56876283;rs796154499;rs796494574;rs35161547	CTA	C	184.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.8;SOR=1.329;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56019402,rs56876283,rs35161547;dbSNPBuildID=137,146,146,129;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|14/57|c.937-260_937-259delTA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|14/56|c.970-260_970-259delTA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4416;p3_1000G_AF=0.881789;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs573768789;p3_1000G_DP=19510;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28771452;p3_1000G_GRCH37_REF=CTA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9335;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:222,18,0
chr2	28548757	rs11680168	T	G	554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11680168;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|14/57|c.937-103T>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|14/56|c.970-103T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4398;p3_1000G_AF=0.878195;p3_1000G_AFR_AF=0.7564;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=17015;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28771624;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:583,48,0
chr2	28562887	rs7560628	G	C	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7560628;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene||n.-3470G>C|||||3470|,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|17/57|c.1148-154G>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|17/56|c.1181-154G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4516;p3_1000G_AF=0.901757;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=19125;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28785754;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr2	28562901	rs12999555	A	G	187.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12999555;dbSNPBuildID=121;ANN=G|upstream_gene_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene||n.-3456A>G|||||3456|,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|17/57|c.1148-140A>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|17/56|c.1181-140A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1443;p3_1000G_AF=0.288139;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=19437;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28785768;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:216,15,0
chr2	28566776	rs10186460	T	C	921.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.055;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=0.803;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.614;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10186460;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|19/57|c.1281-20T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|19/56|c.1314-20T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|1/36|n.420T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1821;p3_1000G_AF=0.363618;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=12467;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.4831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28789643;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1416,2990;ESP6500_AA_AGE=461.5+/-352.9;ESP6500_AA_GTC=215,986,1002;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=79;ESP6500_EA_AC=4211,4389;ESP6500_EA_AGE=569.9+/-389.3;ESP6500_EA_GTC=1007,2197,1096;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28566776;ESP6500_GTC=1222,3183,2098;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.1281-20T>C,NM_001170585.1:c.1314-20T>C;ESP6500_MAF=48.9651,32.138,43.2646;ESP6500_TAC=5627,7379	GT:AD:DP:GQ:PL	0/1:46,41:87:99:950,0,1122
chr2	28578027	rs877832	C	T	632.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs877832;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|21/57|c.1434-80C>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|21/56|c.1467-80C>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|2/35|n.593-80C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1350;p3_1000G_AF=0.269569;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=17375;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.3101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28800894;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:661,69,0
chr2	28579488	rs12466173	G	C	562.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12466173;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|22/57|c.1486-139G>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|22/56|c.1519-139G>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|3/35|n.645-139G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2142;p3_1000G_AF=0.427716;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=20961;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28802355;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:591,45,0
chr2	28581968	rs397868932;rs5830085	GA	G	629.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.24;SOR=2.494;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5830085;dbSNPBuildID=137,138;ANN=G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|23/57|c.1567-88delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|23/56|c.1600-425delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|4/35|n.726-425delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,24:24:72:667,72,0
chr2	28582543	rs4666102	C	A	927.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666102;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|25/57|c.1733+38C>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|24/56|c.1700+38C>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|5/35|n.826+38C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1908;p3_1000G_AF=0.38099;p3_1000G_AFR_AF=0.4274;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=20616;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.3052;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28805410;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1791,2615;ESP6500_AA_GTC=381,1029,793;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=29;ESP6500_EA_AC=2569,6027;ESP6500_EA_GTC=386,1797,2115;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28582543;ESP6500_GTC=767,2826,2908;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.1733+38C>A,NM_001170585.1:c.1700+38C>A;ESP6500_MAF=29.886,40.6491,33.5333;ESP6500_TAC=4360,8642	GT:AD:DP:GQ:PL	1/1:0,31:31:93:956,93,0
chr2	28585672	rs13393932	G	A	263.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.31;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13393932;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|25/57|c.1734-89G>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|24/56|c.1701-89G>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|5/35|n.827-89G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2150;p3_1000G_AF=0.429313;p3_1000G_AFR_AF=0.5666;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=19036;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28808539;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:292,27,0
chr2	28589418	rs12468715	T	C	867.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12468715;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|26/57|c.1816-32T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|25/56|c.1783-32T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|6/35|n.909-32T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2116;p3_1000G_AF=0.422524;p3_1000G_AFR_AF=0.5333;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=17618;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28812285;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2205,2201;ESP6500_AA_AGE=589.2+/-387.1;ESP6500_AA_GTC=556,1093,554;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=64;ESP6500_EA_AC=2665,5935;ESP6500_EA_AGE=684.7+/-404.0;ESP6500_EA_GTC=407,1851,2042;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28589418;ESP6500_GTC=963,2944,2596;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.1816-32T>C,NM_001170585.1:c.1783-32T>C;ESP6500_MAF=30.9884,49.9546,37.4443;ESP6500_TAC=4870,8136	GT:AD:DP:GQ:PL	1/1:0,24:24:72:896,72,0
chr2	28590115	rs4666105	C	T	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666105;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|29/57|c.2088+39C>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|28/56|c.2055+39C>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|9/35|n.1181+39C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2155;p3_1000G_AF=0.430312;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=15056;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.3201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28812982;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2286,2120;ESP6500_AA_AGE=599.1+/-389.2;ESP6500_AA_GTC=593,1100,510;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=71;ESP6500_EA_AC=2665,5935;ESP6500_EA_AGE=427.4+/-355.6;ESP6500_EA_GTC=405,1855,2040;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28590115;ESP6500_GTC=998,2955,2550;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.2088+39C>T,NM_001170585.1:c.2055+39C>T;ESP6500_MAF=30.9884,48.1162,38.067;ESP6500_TAC=4951,8055	GT:AD:DP:GQ:PL	1/1:0,26:26:78:873,78,0
chr2	28591166	rs11681826	A	G	3058.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11681826;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|PLB1|PLB1|transcript|NM_153021.4|protein_coding|30/58|c.2122A>G|p.Met708Val|2166/5147|2122/4377|708/1458||,G|missense_variant|MODERATE|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|29/57|c.2089A>G|p.Met697Val|2133/5114|2089/4344|697/1447||,G|sequence_feature|LOW|PLB1|PLB1|repeat:3|NM_153021.4|protein_coding|30/58|c.2122A>G||||||,G|sequence_feature|LOW|PLB1|PLB1|repeat:3|NM_001170585.1|protein_coding|29/57|c.2089A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|10/36|n.1215A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1516;p3_1000G_AF=0.302716;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=20437;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.1899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28814033;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1583,2823;ESP6500_AA_AGE=667.0+/-401.8;ESP6500_AA_GTC=290,1003,910;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=138;ESP6500_EA_AC=1667,6933;ESP6500_EA_AGE=739.9+/-407.1;ESP6500_EA_GTC=175,1317,2808;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153021.4:missense,NM_001170585.1:missense;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28591166;ESP6500_GS=21,21;ESP6500_GTC=465,2320,3718;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.2122A>G,NM_001170585.1:c.2089A>G;ESP6500_HGVS_PROTEIN_VAR=NM_153021.4:p.(M708V),NM_001170585.1:p.(M697V);ESP6500_MAF=19.3837,35.9283,24.9885;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=3250,9756	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3087,279,0
chr2	28591681	rs12464271	A	T	876.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.4;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12464271;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|30/57|c.2128-19A>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|29/56|c.2095-19A>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|10/35|n.1221-19A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1452;p3_1000G_AF=0.289936;p3_1000G_AFR_AF=0.3495;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=20253;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.1889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28814548;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1451,2955;ESP6500_AA_AGE=468.5+/-355.1;ESP6500_AA_GTC=247,957,999;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=88;ESP6500_EA_AC=1664,6936;ESP6500_EA_AGE=306.1+/-307.8;ESP6500_EA_GTC=176,1312,2812;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28591681;ESP6500_GTC=423,2269,3811;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.2128-19A>T,NM_001170585.1:c.2095-19A>T;ESP6500_MAF=19.3488,32.9324,23.9505;ESP6500_TAC=3115,9891	GT:AD:DP:GQ:PL	1/1:0,32:32:96:905,96,0
chr2	28591816	rs11127176	T	C	451.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11127176;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|31/57|c.2188+56T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|30/56|c.2155+56T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|11/35|n.1281+56T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1715;p3_1000G_AF=0.342452;p3_1000G_AFR_AF=0.4168;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=19358;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28814683;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=547,837;ESP6500_AA_GTC=105,337,250;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=25;ESP6500_EA_AC=631,2551;ESP6500_EA_GTC=71,489,1031;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28591816;ESP6500_GTC=176,826,1281;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.2188+56T>C,NM_001170585.1:c.2155+56T>C;ESP6500_MAF=19.8303,39.5231,25.7994;ESP6500_TAC=1178,3388	GT:AD:DP:GQ:PL	1/1:0,13:13:39:480,39,0
chr2	28598795	rs7557359	C	T	1517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=1.225;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7557359;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|35/57|c.2474+35C>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|34/56|c.2441+35C>T||||||,T|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|15/35|n.1567+35C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3177;p3_1000G_AF=0.634385;p3_1000G_AFR_AF=0.6127;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=21517;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.5736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28821662;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2652,1754;ESP6500_AA_AGE=520.4+/-370.3;ESP6500_AA_GTC=792,1068,343;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=67;ESP6500_EA_AC=4567,4033;ESP6500_EA_AGE=556.9+/-387.0;ESP6500_EA_GTC=1226,2115,959;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28598795;ESP6500_GTC=2018,3183,1302;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.2474+35C>T,NM_001170585.1:c.2441+35C>T;ESP6500_MAF=46.8953,39.8094,44.4948;ESP6500_TAC=7219,5787	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1546,147,0
chr2	28601926	rs7601771	C	G	1611.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7601771;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|PLB1|PLB1|transcript|NM_153021.4|protein_coding|38/58|c.2635C>G|p.His879Asp|2679/5147|2635/4377|879/1458||,G|missense_variant|MODERATE|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|37/57|c.2602C>G|p.His868Asp|2646/5114|2602/4344|868/1447||,G|non_coding_transcript_exon_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|18/36|n.1728C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3254;p3_1000G_AF=0.64976;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=17773;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.5765;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28824793;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2870,1536;ESP6500_AA_AGE=483.2+/-359.6;ESP6500_AA_GTC=929,1012,262;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=134;ESP6500_EA_AC=4548,4052;ESP6500_EA_AGE=558.5+/-387.2;ESP6500_EA_GTC=1214,2120,966;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153021.4:missense,NM_001170585.1:missense;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28601926;ESP6500_GS=81,81;ESP6500_GTC=2143,3132,1228;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.2635C>G,NM_001170585.1:c.2602C>G;ESP6500_HGVS_PROTEIN_VAR=NM_153021.4:p.(H879D),NM_001170585.1:p.(H868D);ESP6500_MAF=47.1163,34.8616,42.9648;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7418,5588	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1640,155,0
chr2	28605782	rs76870325	G	A	471.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.468;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.49;ReadPosRankSum=0.626;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76870325;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|41/57|c.2962-71G>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|40/56|c.2929-71G>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|19/35|n.1868-71G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=105;p3_1000G_AF=0.0209665;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=16640;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28828649;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,14:16:37:500,0,37
chr2	28618182	rs1881255	G	A	202.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1881255;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|45/57|c.3257-159G>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|44/56|c.3224-159G>A||||||,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|23/35|n.2163-159G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3046;p3_1000G_AF=0.608227;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=22158;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.4503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28841049;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:231,18,0
chr2	28620672	rs561905358	ACTGTGGCCGTCCTCC	A	163.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.682;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.746;SOR=0.569;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|48/57|c.3427+33_3427+47delTGGCCGTCCTCCCTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|47/56|c.3394+33_3394+47delTGGCCGTCCTCCCTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|26/35|n.2333+33_2333+47delTGGCCGTCCTCCCTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=20522;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28843539;p3_1000G_GRCH37_REF=ACTGTGGCCGTCCTCC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,6:19:99:201,0,2141
chr2	28624939	rs11127181	C	G	1284.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11127181;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|49/57|c.3528-118C>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|48/56|c.3495-118C>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|27/35|n.2434-118C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3022;p3_1000G_AF=0.603435;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18424;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28847806;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1313,120,0
chr2	28626606	rs899149	T	C	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.9;ReadPosRankSum=0.431;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs899149;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|51/57|c.3660+98T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|50/56|c.3627+98T>C||||||,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|29/35|n.2566+98T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1464;p3_1000G_AF=0.292332;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=17681;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.327;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28849473;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:111,0,237
chr2	28628650	rs78394306	C	G	1033.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.015;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=8.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-1.715;SOR=1.435;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78394306;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|52/57|c.3726+22C>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|51/56|c.3693+22C>G||||||,G|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|30/35|n.2632+22C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=278;p3_1000G_AF=0.0555112;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=18110;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.0417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28851517;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=482,3924;ESP6500_AA_AGE=226.2+/-241.8;ESP6500_AA_GTC=25,432,1746;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=70;ESP6500_EA_AC=167,8433;ESP6500_EA_AGE=77.5+/-140.1;ESP6500_EA_GTC=3,161,4136;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:intron,NM_001170585.1:intron;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28628650;ESP6500_GTC=28,593,5882;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.3726+22C>G,NM_001170585.1:c.3693+22C>G;ESP6500_MAF=1.9419,10.9396,4.99;ESP6500_TAC=649,12357	GT:AD:DP:GQ:PL	0/1:26,38:64:99:1062,0,666
chr2	28632221	rs375835121;rs534648668;rs71403615	CT	C	140.5	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.349;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0;SOR=0.582;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs375835121,rs11300009;dbSNPBuildID=142,138;ANN=C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|55/57|c.4002+94delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|54/56|c.3969+94delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|33/35|n.2908+94delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1003;p3_1000G_AF=0.20028;p3_1000G_AFR_AF=0.3994;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=17566;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.0934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28855088;p3_1000G_GRCH37_REF=CT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,7:9:20:173,0,20
chr2	28632973	rs3752902	C	T	682.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.481;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-1.133;SOR=0.752;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752902;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|PLB1|PLB1|transcript|NM_153021.4|protein_coding|56/58|c.4032C>T|p.Ser1344Ser|4076/5147|4032/4377|1344/1458||,T|synonymous_variant|LOW|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|55/57|c.3999C>T|p.Ser1333Ser|4043/5114|3999/4344|1333/1447||,T|non_coding_transcript_exon_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|34/36|n.2938C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=628;p3_1000G_AF=0.125399;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=17064;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.0417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28855840;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1376,3030;ESP6500_AA_AGE=457.5+/-351.6;ESP6500_AA_GTC=200,976,1027;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-6.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=154;ESP6500_EA_AC=171,8429;ESP6500_EA_AGE=78.4+/-141.0;ESP6500_EA_GTC=3,165,4132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:coding-synonymous,NM_001170585.1:coding-synonymous;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28632973;ESP6500_GTC=203,1141,5159;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.4032C>T,NM_001170585.1:c.3999C>T;ESP6500_HGVS_PROTEIN_VAR=NM_153021.4:p.(S1344),NM_001170585.1:p.(S1333);ESP6500_MAF=1.9884,31.2301,11.8945;ESP6500_TAC=1547,11459	GT:AD:DP:GQ:PL	0/1:36,28:64:99:711,0,958
chr2	28642894	rs2272387	T	C	870.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=1.012;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.198;SOR=0.755;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272387;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|PLB1|PLB1|transcript|NM_153021.4|protein_coding|58/58|c.4210T>C|p.Leu1404Leu|4254/5147|4210/4377|1404/1458||,C|synonymous_variant|LOW|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|57/57|c.4177T>C|p.Leu1393Leu|4221/5114|4177/4344|1393/1447||,C|non_coding_transcript_exon_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|36/36|n.3116T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1940;p3_1000G_AF=0.38738;p3_1000G_AFR_AF=0.4962;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=16583;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.4125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28865760;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2160,2246;ESP6500_AA_GTC=501,1158,544;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=3329,5271;ESP6500_EA_GTC=657,2015,1628;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:coding-synonymous,NM_001170585.1:coding-synonymous;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28642894;ESP6500_GTC=1158,3173,2172;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.4210T>C,NM_001170585.1:c.4177T>C;ESP6500_HGVS_PROTEIN_VAR=NM_153021.4:p.(L1404),NM_001170585.1:p.(L1393);ESP6500_MAF=38.7093,49.0241,42.2036;ESP6500_TAC=5489,7517	GT:AD:DP:GQ:PL	0/1:25,32:57:99:899,0,614
chr2	28643102	rs57817040	T	C	646.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.483;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.509;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.757;SOR=0.745;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57817040;dbSNPBuildID=129;ANN=C|3_prime_UTR_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|58/58|c.*41T>C|||||41|,C|3_prime_UTR_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|57/57|c.*41T>C|||||41|,C|non_coding_transcript_exon_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|36/36|n.3324T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1950;p3_1000G_AF=0.389377;p3_1000G_AFR_AF=0.4955;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=15069;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28865968;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2055,2317;ESP6500_AA_GTC=485,1085,616;ESP6500_CDS_SIZES=NM_153021.4:4377,NM_001170585.1:4344;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=16;ESP6500_EA_AC=3249,5315;ESP6500_EA_GTC=678,1893,1711;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153021.4:utr-3,NM_001170585.1:utr-3;ESP6500_GL=PLB1;ESP6500_GRCh38_POSITION=2:28643102;ESP6500_GTC=1163,2978,2327;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153021.4:c.*41T>C,NM_001170585.1:c.*41T>C;ESP6500_MAF=37.9379,47.0037,41.0019;ESP6500_TAC=5304,7632	GT:AD:DP:GQ:PL	0/1:21,27:48:99:675,0,507
chr2	28643166	rs3088281	A	C	509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.648;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.423;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.749;SOR=0.561;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3088281;dbSNPBuildID=102;ANN=C|3_prime_UTR_variant|MODIFIER|PLB1|PLB1|transcript|NM_153021.4|protein_coding|58/58|c.*105A>C|||||105|,C|3_prime_UTR_variant|MODIFIER|PLB1|PLB1|transcript|NM_001170585.1|protein_coding|57/57|c.*105A>C|||||105|,C|non_coding_transcript_exon_variant|MODIFIER|PLB1|PLB1|transcript|NR_138141.1|pseudogene|36/36|n.3388A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1451;p3_1000G_AF=0.289736;p3_1000G_AFR_AF=0.2345;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=18867;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28866032;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,21:33:99:538,0,288
chr2	28752241	rs2276547	G	C	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.886;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.607;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.61;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276547;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PPP1CB|PPP1CB|transcript|NM_002709.2|protein_coding|1/7|c.52+65G>C||||||,C|intron_variant|MODIFIER|PPP1CB|PPP1CB|transcript|NM_206876.1|protein_coding|2/8|c.52+65G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3574;p3_1000G_AF=0.713658;p3_1000G_AFR_AF=0.6596;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=9056;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.7078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28975107;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1037,307;ESP6500_AA_GTC=395,247,30;ESP6500_CDS_SIZES=NM_206876.1:984,NM_002709.2:984;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=10;ESP6500_EA_AC=2312,788;ESP6500_EA_GTC=868,576,106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206876.1:intron,NM_002709.2:intron;ESP6500_GL=PPP1CB;ESP6500_GRCh38_POSITION=2:28752241;ESP6500_GTC=1263,823,136;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_206876.1:c.52+65G>C,NM_002709.2:c.52+65G>C;ESP6500_MAF=25.4194,22.8423,24.64;ESP6500_TAC=3349,1095	GT:AD:DP:GQ:PL	0/1:16,11:27:99:315,0,551
chr2	28782057	rs6740859	G	A	51.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6740859;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PPP1CB|PPP1CB|transcript|NM_002709.2|protein_coding|4/7|c.520+215G>A||||||,A|intron_variant|MODIFIER|PPP1CB|PPP1CB|transcript|NM_206876.1|protein_coding|5/8|c.520+215G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4942;p3_1000G_AF=0.986821;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=14435;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29004923;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr2	28822457	rs4436918	C	T	124.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.98;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4436918;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SPDYA|SPDYA|transcript|NM_001142634.1|protein_coding|4/6|c.380+47C>T||||||,T|intron_variant|MODIFIER|SPDYA|SPDYA|transcript|NM_182756.3|protein_coding|5/7|c.380+47C>T||||||,T|intron_variant|MODIFIER|SPDYA|SPDYA|transcript|NM_001008779.1|protein_coding|3/4|c.380+47C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4826;p3_1000G_AF=0.963658;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=12695;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29045323;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3899,381;ESP6500_AA_GTC=1774,351,15;ESP6500_CDS_SIZES=NM_182756.3:942,NM_001142634.1:942,NM_001008779.1:861;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=23;ESP6500_EA_AC=8388,6;ESP6500_EA_GTC=4191,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182756.3:intron,NM_001142634.1:intron,NM_001008779.1:intron;ESP6500_GL=SPDYA;ESP6500_GRCh38_POSITION=2:28822457;ESP6500_GTC=5965,357,15;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182756.3:c.380+47C>T,NM_001142634.1:c.380+47C>T,NM_001008779.1:c.380+47C>T;ESP6500_MAF=0.0715,8.9019,3.0535;ESP6500_TAC=12287,387	GT:AD:DP:GQ:PL	1/1:0,5:5:15:153,15,0
chr2	28852298	rs748468635	GTTTTT	G	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|downstream_gene_variant|MODIFIER|SPDYA|SPDYA|transcript|NM_001142634.1|protein_coding||c.*2358_*2362delTTTTT|||||1690|,G|downstream_gene_variant|MODIFIER|SPDYA|SPDYA|transcript|NM_182756.3|protein_coding||c.*2358_*2362delTTTTT|||||1690|,G|intron_variant|MODIFIER|TRMT61B|TRMT61B|transcript|NM_017910.3|protein_coding|4/6|c.1085+105_1085+109delAAAAA||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:9:1|1:28852298_GTTTTT_G:135,9,0
chr2	28852304	rs1191287057	T	TGAGAC	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=TGAGAC|downstream_gene_variant|MODIFIER|SPDYA|SPDYA|transcript|NM_001142634.1|protein_coding||c.*2363_*2364insGAGAC|||||1696|,TGAGAC|downstream_gene_variant|MODIFIER|SPDYA|SPDYA|transcript|NM_182756.3|protein_coding||c.*2363_*2364insGAGAC|||||1696|,TGAGAC|intron_variant|MODIFIER|TRMT61B|TRMT61B|transcript|NM_017910.3|protein_coding|4/6|c.1085+103_1085+104insGTCTC||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:9:1|1:28852298_GTTTTT_G:135,9,0
chr2	28864948	rs55785599	C	A	432.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.29;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55785599;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|TRMT61B|TRMT61B|transcript|NM_017910.3|protein_coding|2/6|c.802+69G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2213;p3_1000G_AF=0.441893;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=20094;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.4115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29087814;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:461,39,0
chr2	28869813	rs4233729	T	C	1460.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4233729;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|TRMT61B|TRMT61B|transcript|NM_017910.3|protein_coding|1/7|c.465A>G|p.Glu155Glu|497/1844|465/1434|155/477||;p3_1000G_AA=T|||;p3_1000G_AC=2530;p3_1000G_AF=0.505192;p3_1000G_AFR_AF=0.3933;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=20292;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29092679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1693,2713;ESP6500_AA_AGE=501.0+/-364.9;ESP6500_AA_GTC=330,1033,840;ESP6500_CDS_SIZES=NM_017910.3:1434;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=44;ESP6500_EA_AC=3649,4951;ESP6500_EA_AGE=520.5+/-379.7;ESP6500_EA_GTC=765,2119,1416;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017910.3:coding-synonymous;ESP6500_GL=TRMT61B;ESP6500_GRCh38_POSITION=2:28869813;ESP6500_GTC=1095,3152,2256;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017910.3:c.465A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017910.3:p.(E155);ESP6500_MAF=42.4302,38.4249,41.0734;ESP6500_TAC=5342,7664	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1489,129,0
chr2	28869984	rs4666122	G	T	3654.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=122;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=0.945;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666122;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|TRMT61B|TRMT61B|transcript|NM_017910.3|protein_coding|1/7|c.294C>A|p.Ser98Ser|326/1844|294/1434|98/477||;p3_1000G_AA=G|||;p3_1000G_AC=2530;p3_1000G_AF=0.505192;p3_1000G_AFR_AF=0.3933;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=18327;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29092850;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1694,2712;ESP6500_AA_AGE=509.4+/-367.2;ESP6500_AA_GTC=329,1036,838;ESP6500_CDS_SIZES=NM_017910.3:1434;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=60;ESP6500_EA_AC=3649,4951;ESP6500_EA_AGE=522.9+/-380.2;ESP6500_EA_GTC=765,2119,1416;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017910.3:coding-synonymous;ESP6500_GL=TRMT61B;ESP6500_GRCh38_POSITION=2:28869984;ESP6500_GTC=1094,3155,2254;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_017910.3:c.294C>A;ESP6500_HGVS_PROTEIN_VAR=NM_017910.3:p.(S98);ESP6500_MAF=42.4302,38.4476,41.081;ESP6500_TAC=5343,7663	GT:AD:DP:GQ:PL	1/1:0,122:122:99:3683,366,0
chr2	28906434	rs36066576;rs397868491	AT	A	416.94	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.825;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-1.31;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs36066576;dbSNPBuildID=137,138;ANN=A|intron_variant|MODIFIER|WDR43|WDR43|transcript|NM_015131.2|protein_coding|2/17|c.364-10delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2411;p3_1000G_AF=0.48143;p3_1000G_AFR_AF=0.4024;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=19618;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.3618;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29129300;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,20:25:34:454,0,34
chr2	28906552	rs11688605	A	G	1820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=0.725;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11688605;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|WDR43|WDR43|transcript|NM_015131.2|protein_coding|3/18|c.456A>G|p.Glu152Glu|512/3531|456/2034|152/677||;p3_1000G_AA=A|||;p3_1000G_AC=1860;p3_1000G_AF=0.371406;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=18995;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29129418;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=717,3275;ESP6500_AA_GTC=61,595,1340;ESP6500_CDS_SIZES=NM_015131.1:2034;ESP6500_CG=-0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=91;ESP6500_EA_AC=1849,6505;ESP6500_EA_GTC=196,1457,2524;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015131.1:coding-synonymous;ESP6500_GL=WDR43;ESP6500_GRCh38_POSITION=2:28906552;ESP6500_GTC=257,2052,3864;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015131.1:c.456A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015131.1:p.(E152);ESP6500_MAF=22.1331,17.9609,20.7841;ESP6500_TAC=2566,9780	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1849,183,0
chr2	28912602	rs6715296	C	G	1316.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6715296;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|WDR43|WDR43|transcript|NM_015131.2|protein_coding|4/18|c.498C>G|p.Gly166Gly|554/3531|498/2034|166/677||,G|sequence_feature|LOW|WDR43|WDR43|repeat:WD_4|NM_015131.2|protein_coding|4/18|c.498C>G||||||,G|upstream_gene_variant|MODIFIER|SNORD92|SNORD92|transcript|NR_003074.1|pseudogene||n.-1060C>G|||||1060|;p3_1000G_AA=C|||;p3_1000G_AC=3502;p3_1000G_AF=0.699281;p3_1000G_AFR_AF=0.5166;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=18134;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.7048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29135468;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2125,1609;ESP6500_AA_GTC=595,935,337;ESP6500_CDS_SIZES=NM_015131.1:2034;ESP6500_CG=-2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=127;ESP6500_EA_AC=5907,2289;ESP6500_EA_GTC=2134,1639,325;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015131.1:coding-synonymous;ESP6500_GL=WDR43;ESP6500_GRCh38_POSITION=2:28912602;ESP6500_GTC=2729,2574,662;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015131.1:c.498C>G;ESP6500_HGVS_PROTEIN_VAR=NM_015131.1:p.(G166);ESP6500_MAF=27.9283,43.0905,32.6739;ESP6500_TAC=8032,3898	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1345,129,0
chr2	28917845	rs4389288	G	A	1085.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=1.432;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4389288;dbSNPBuildID=111;ANN=A|downstream_gene_variant|MODIFIER|SNORD92|SNORD92|transcript|NR_003074.1|pseudogene||n.*4095G>A|||||4095|,A|intron_variant|MODIFIER|WDR43|WDR43|transcript|NM_015131.2|protein_coding|5/17|c.747-48G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1894;p3_1000G_AF=0.378195;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=19958;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29140711;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=697,3053;ESP6500_AA_GTC=66,565,1244;ESP6500_CDS_SIZES=NM_015131.1:2034;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=26;ESP6500_EA_AC=1716,6422;ESP6500_EA_GTC=194,1328,2547;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015131.1:intron;ESP6500_GL=WDR43;ESP6500_GRCh38_POSITION=2:28917845;ESP6500_GTC=260,1893,3791;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015131.1:c.747-48G>A;ESP6500_MAF=21.0863,18.5867,20.2978;ESP6500_TAC=2413,9475	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1114,111,0
chr2	28922859	rs9653591	G	T	494.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9653591;dbSNPBuildID=119;ANN=T|upstream_gene_variant|MODIFIER|SNORD53|SNORD53|transcript|NR_002741.2|pseudogene||n.-4208G>T|||||4208|,T|intron_variant|MODIFIER|WDR43|WDR43|transcript|NM_015131.2|protein_coding|6/17|c.850-60G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3499;p3_1000G_AF=0.698682;p3_1000G_AFR_AF=0.5166;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=14986;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.7038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29145725;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=765,619;ESP6500_AA_GTC=206,353,133;ESP6500_CDS_SIZES=NM_015131.1:2034;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=187;ESP6500_EA_AC=2305,877;ESP6500_EA_GTC=837,631,123;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015131.1:intron;ESP6500_GL=WDR43;ESP6500_GRCh38_POSITION=2:28922859;ESP6500_GTC=1043,984,256;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015131.1:c.850-60G>T;ESP6500_MAF=27.5613,44.7254,32.7639;ESP6500_TAC=3070,1496	GT:AD:DP:GQ:PL	1/1:0,15:15:45:523,45,0
chr2	28938144	rs4233731	G	A	722.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=5.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4233731;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|WDR43|WDR43|transcript|NM_015131.2|protein_coding|14/17|c.1620+150G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4411;p3_1000G_AF=0.880791;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=18891;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.9155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29161010;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:751,57,0
chr2	28946328	rs6745598	A	G	65.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6745598;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|WDR43|WDR43|transcript|NM_015131.2|protein_coding|16/17|c.1805-122A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3551;p3_1000G_AF=0.709065;p3_1000G_AFR_AF=0.5212;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=15912;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29169194;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7536;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:93,9,0
chr2	28946746	rs3087649	T	C	869.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3087649;dbSNPBuildID=102;ANN=C|synonymous_variant|LOW|WDR43|WDR43|transcript|NM_015131.2|protein_coding|18/18|c.2001T>C|p.Asp667Asp|2057/3531|2001/2034|667/677||;p3_1000G_AA=C|||;p3_1000G_AC=3782;p3_1000G_AF=0.755192;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=18943;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.7068;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29169612;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2805,1055;ESP6500_AA_GTC=1020,765,145;ESP6500_CDS_SIZES=NM_015131.1:2034;ESP6500_CG=-3.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=51;ESP6500_EA_AC=5973,2287;ESP6500_EA_GTC=2174,1625,331;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015131.1:coding-synonymous;ESP6500_GL=WDR43;ESP6500_GRCh38_POSITION=2:28946746;ESP6500_GTC=3194,2390,476;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015131.1:c.2001T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015131.1:p.(D667);ESP6500_MAF=27.6877,27.3316,27.5743;ESP6500_TAC=8778,3342	GT:AD:DP:GQ:PL	1/1:0,22:22:66:898,66,0
chr2	28999204	rs13009279	G	A	1577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.462;ClippingRankSum=0;DP=122;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.755;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13009279;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|4/20|c.163G>A|p.Ala55Thr|514/3548|163/3060|55/1019||,A|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|4/19|c.163G>A|p.Ala55Thr|514/3383|163/2895|55/964||,A|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|4/16|c.163G>A|p.Ala55Thr|514/2975|163/2487|55/828||;p3_1000G_AA=G|||;p3_1000G_AC=1645;p3_1000G_AF=0.328474;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=19748;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.2813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29222070;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=981,3273;ESP6500_AA_GTC=112,757,1258;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=40;ESP6500_EA_AC=2284,6178;ESP6500_EA_GTC=318,1648,2265;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199280.2:missense;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:28999204;ESP6500_GS=58;ESP6500_GTC=430,2405,3523;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.163G>A;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(A55T);ESP6500_MAF=26.9913,23.0606,25.6763;ESP6500_PH=benign:0.0;ESP6500_TAC=3265,9451	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1606,0,1729
chr2	28999522	rs57018089	G	C	252.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs57018089;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|4/19|c.427+54G>C||||||,C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|4/18|c.427+54G>C||||||,C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|4/15|c.427+54G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2600;p3_1000G_AF=0.519169;p3_1000G_AFR_AF=0.6815;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=16539;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.3479;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29222388;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:281,21,0
chr2	29002636	rs72786178	T	G	1570.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.699;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=-2.182;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72786178;dbSNPBuildID=130;ANN=G|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|5/20|c.528T>G|p.Pro176Pro|879/3548|528/3060|176/1019||,G|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|5/19|c.528T>G|p.Pro176Pro|879/3383|528/2895|176/964||,G|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|5/16|c.528T>G|p.Pro176Pro|879/2975|528/2487|176/828||;p3_1000G_AA=T|||;p3_1000G_AC=946;p3_1000G_AF=0.188898;p3_1000G_AFR_AF=0.4372;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=17273;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.0726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29225502;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1443,2525;ESP6500_AA_GTC=270,903,811;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=-3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=33;ESP6500_EA_AC=565,7761;ESP6500_EA_GTC=15,535,3613;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199280.2:coding-synonymous;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29002636;ESP6500_GTC=285,1438,4424;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.528T>G;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(P176);ESP6500_MAF=6.786,36.3659,16.3332;ESP6500_TAC=2008,10286	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,41:78:99:0|1:29002636_T_G:1599,0,2268
chr2	29002638	rs72786179	T	C	1570.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=-2.224;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72786179;dbSNPBuildID=130;ANN=C|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|5/20|c.530T>C|p.Leu177Pro|881/3548|530/3060|177/1019||,C|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|5/19|c.530T>C|p.Leu177Pro|881/3383|530/2895|177/964||,C|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|5/16|c.530T>C|p.Leu177Pro|881/2975|530/2487|177/828||;p3_1000G_AA=C|||;p3_1000G_AC=946;p3_1000G_AF=0.188898;p3_1000G_AFR_AF=0.4372;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=17380;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.0726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29225504;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1441,2533;ESP6500_AA_GTC=271,899,817;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=33;ESP6500_EA_AC=564,7764;ESP6500_EA_GTC=16,532,3616;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199280.2:missense;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29002638;ESP6500_GS=98;ESP6500_GTC=287,1431,4433;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.530T>C;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(L177P);ESP6500_MAF=6.7723,36.2607,16.2982;ESP6500_PH=benign:0.0;ESP6500_TAC=2005,10297	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,41:78:99:0|1:29002636_T_G:1599,0,2268
chr2	29003523	rs80120243	A	G	572.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.127;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.173;SOR=0.615;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80120243;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|6/20|c.671A>G|p.Asn224Ser|1022/3548|671/3060|224/1019||,G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|6/19|c.671A>G|p.Asn224Ser|1022/3383|671/2895|224/964||,G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|6/16|c.671A>G|p.Asn224Ser|1022/2975|671/2487|224/828||;p3_1000G_AA=A|||;p3_1000G_AC=218;p3_1000G_AF=0.0435304;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29226389;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=66,4116;ESP6500_AA_GTC=0,66,2025;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=-2.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=40;ESP6500_EA_AC=18,8396;ESP6500_EA_GTC=0,18,4189;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199280.2:missense;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29003523;ESP6500_GS=46;ESP6500_GTC=0,84,6214;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.671A>G;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(N224S);ESP6500_MAF=0.2139,1.5782,0.6669;ESP6500_PH=benign:0.008;ESP6500_TAC=84,12512	GT:AD:DP:GQ:PL	0/1:27,21:48:99:601,0,709
chr2	29003551	rs76285160	C	T	690.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.087;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.225;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76285160;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|6/20|c.699C>T|p.Gly233Gly|1050/3548|699/3060|233/1019||,T|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|6/19|c.699C>T|p.Gly233Gly|1050/3383|699/2895|233/964||,T|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|6/16|c.699C>T|p.Gly233Gly|1050/2975|699/2487|233/828||;p3_1000G_AA=C|||;p3_1000G_AC=371;p3_1000G_AF=0.0740815;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=19082;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29226417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=385,3749;ESP6500_AA_GTC=10,365,1692;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=44;ESP6500_EA_AC=24,8338;ESP6500_EA_GTC=0,24,4157;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199280.2:coding-synonymous;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29003551;ESP6500_GTC=10,389,5849;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.699C>T;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(G233);ESP6500_MAF=0.287,9.313,3.273;ESP6500_TAC=409,12087	GT:AD:DP:GQ:PL	0/1:32,28:60:99:719,0,821
chr2	29003632	rs12613325	G	A	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.281;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.137;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.48;SOR=0.904;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12613325;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|6/20|c.780G>A|p.Pro260Pro|1131/3548|780/3060|260/1019||,A|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|6/19|c.780G>A|p.Pro260Pro|1131/3383|780/2895|260/964||,A|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|6/16|c.780G>A|p.Pro260Pro|1131/2975|780/2487|260/828||;p3_1000G_AA=A|||;p3_1000G_AC=2971;p3_1000G_AF=0.593251;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=18152;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.7584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29226498;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1513,2439;ESP6500_AA_GTC=294,925,757;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=30;ESP6500_EA_AC=6585,1697;ESP6500_EA_GTC=2629,1327,185;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199280.2:coding-synonymous;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29003632;ESP6500_GTC=2923,2252,942;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.780G>A;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(P260);ESP6500_MAF=20.4902,38.2844,33.8074;ESP6500_TAC=8098,4136	GT:AD:DP:GQ:PL	0/1:20,25:45:99:515,0,511
chr2	29003646	rs12623297	A	G	1255.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12623297;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|6/20|c.794A>G|p.Gln265Arg|1145/3548|794/3060|265/1019||,G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|6/19|c.794A>G|p.Gln265Arg|1145/3383|794/2895|265/964||,G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|6/16|c.794A>G|p.Gln265Arg|1145/2975|794/2487|265/828||;p3_1000G_AA=A|||;p3_1000G_AC=3730;p3_1000G_AF=0.744808;p3_1000G_AFR_AF=0.5998;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=18122;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29226512;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2583,1347;ESP6500_AA_GTC=846,891,228;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=26;ESP6500_EA_AC=7150,1128;ESP6500_EA_GTC=3102,946,91;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199280.2:missense;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29003646;ESP6500_GS=43;ESP6500_GTC=3948,1837,319;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.794A>G;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(Q265R);ESP6500_MAF=13.6265,34.2748,20.2736;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=9733,2475	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1284,126,0
chr2	29003693	rs12619829	C	T	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.172;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=0;SOR=0.655;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12619829;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|6/19|c.830+11C>T||||||,T|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|6/18|c.830+11C>T||||||,T|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|6/15|c.830+11C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3257;p3_1000G_AF=0.650359;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=18300;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.8221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29226559;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2079,1947;ESP6500_AA_GTC=536,1007,470;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=18;ESP6500_EA_AC=7111,1187;ESP6500_EA_GTC=3055,1001,93;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199280.2:intron;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29003693;ESP6500_GTC=3591,2008,563;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.830+11C>T;ESP6500_MAF=14.3047,48.3607,25.4301;ESP6500_TAC=9190,3134	GT:AD:DP:GQ:PL	0/1:16,12:28:99:278,0,460
chr2	29017139	rs13409097	T	C	619.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.558;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.35;SOR=0.866;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13409097;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|8/19|c.1045-15T>C||||||,C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|8/18|c.1045-15T>C||||||,C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|8/15|c.1044+2578T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1940;p3_1000G_AF=0.38738;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=18682;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.5109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29240005;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=582,3412;ESP6500_AA_GTC=47,488,1462;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=4.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=122;ESP6500_EA_AC=4546,3798;ESP6500_EA_GTC=1244,2058,870;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199280.2:intron;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29017139;ESP6500_GTC=1291,2546,2332;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.1045-15T>C;ESP6500_MAF=45.5177,14.5719,41.5627;ESP6500_TAC=5128,7210	GT:AD:DP:GQ:PL	0/1:24,24:48:99:648,0,667
chr2	29017917	rs1109758	A	G	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.22;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.78;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.038;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1109758;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|10/20|c.1321A>G|p.Ile441Val|1672/3548|1321/3060|441/1019||,G|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|9/18|c.1195+613A>G||||||,G|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|8/15|c.1044+3356A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2010;p3_1000G_AF=0.401358;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=15556;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.341;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29240783;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2212,1698;ESP6500_AA_GTC=640,932,383;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=1.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=16;ESP6500_EA_AC=2639,5645;ESP6500_EA_GTC=431,1777,1934;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199280.2:missense;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29017917;ESP6500_GS=29;ESP6500_GTC=1071,2709,2317;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.1321A>G;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(I441V);ESP6500_MAF=31.8566,43.4271,39.7819;ESP6500_PH=benign:0.0;ESP6500_TAC=4851,7343	GT:AD:DP:GQ:PL	0/1:18,17:35:99:446,0,471
chr2	29023067	rs13420380	G	A	907.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.28;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13420380;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|11/19|c.1512-19G>A||||||,A|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|10/18|c.1347-19G>A||||||,A|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|8/15|c.1045-1072G>A||||||;ESP6500_AA=G;ESP6500_AA_AC=1227,2839;ESP6500_AA_GTC=168,891,974;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=20;ESP6500_EA_AC=2706,5652;ESP6500_EA_GTC=476,1754,1949;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199280.2:intron;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29023067;ESP6500_GTC=644,2645,2923;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.1512-19G>A;ESP6500_MAF=32.3762,30.1771,31.6565;ESP6500_TAC=3933,8491	GT:AD:DP:GQ:PL	1/1:0,31:31:93:936,93,0
chr2	29023178	rs6721861	T	C	580.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6721861;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|12/20|c.1604T>C|p.Val535Ala|1955/3548|1604/3060|535/1019||,C|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|11/19|c.1439T>C|p.Val480Ala|1790/3383|1439/2895|480/964||,C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|8/15|c.1045-961T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2376;p3_1000G_AF=0.474441;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=18661;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29246044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2279,1877;ESP6500_AA_GTC=635,1009,434;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=4.6;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=30;ESP6500_EA_AC=2777,5625;ESP6500_EA_GTC=504,1769,1928;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199280.2:missense;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29023178;ESP6500_GS=64;ESP6500_GTC=1139,2778,2362;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.1604T>C;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(V535A);ESP6500_MAF=33.0517,45.1636,40.2612;ESP6500_PH=benign:0.0;ESP6500_TAC=5056,7502	GT:AD:DP:GQ:PL	1/1:0,20:20:60:609,60,0
chr2	29024438	rs66715573	C	T	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.777;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.595;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs66715573;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|13/19|c.1853+64C>T||||||,T|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|12/18|c.1688+64C>T||||||,T|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|9/15|c.1280+64C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1095;p3_1000G_AF=0.21865;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=12869;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29247304;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:308,0,267
chr2	29035327	rs878292	A	G	458.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs878292;dbSNPBuildID=86;ANN=G|sequence_feature|LOW|FAM179A|FAM179A|antibody-mapping:heterologous_protein_expression_evidence|NM_199280.2|protein_coding|16/19|c.2226-137A>G||||||,G|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|16/19|c.2226-137A>G||||||,G|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|15/18|c.2061-137A>G||||||,G|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|12/15|c.1653-137A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1852;p3_1000G_AF=0.369808;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=16307;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.3459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29258193;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:487,42,0
chr2	29045509	rs2276551	A	C	134.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276551;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|19/19|c.2722+99A>C||||||,C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|18/18|c.2557+99A>C||||||,C|intron_variant|MODIFIER|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|15/15|c.2149+99A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1163;p3_1000G_AF=0.232228;p3_1000G_AFR_AF=0.1906;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=13688;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.0905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29268375;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=233,1151;ESP6500_AA_GTC=17,199,476;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=16;ESP6500_EA_AC=322,2860;ESP6500_EA_GTC=24,274,1293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199280.2:intron;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29045509;ESP6500_GTC=41,473,1769;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.2722+99A>C;ESP6500_MAF=10.1194,16.8353,12.1551;ESP6500_TAC=555,4011	GT:AD:DP:GQ:PL	1/1:0,4:4:12:162,12,0
chr2	29051838	rs61749512	C	T	1054.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.3;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61749512;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|20/20|c.2805C>T|p.Thr935Thr|3156/3548|2805/3060|935/1019||,T|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|19/19|c.2640C>T|p.Thr880Thr|2991/3383|2640/2895|880/964||,T|synonymous_variant|LOW|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|16/16|c.2232C>T|p.Thr744Thr|2583/2975|2232/2487|744/828||;p3_1000G_AA=C|||;p3_1000G_AC=1129;p3_1000G_AF=0.225439;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=16173;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.0915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29274704;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=560,3498;ESP6500_AA_GTC=30,500,1499;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=18;ESP6500_EA_AC=756,7610;ESP6500_EA_GTC=34,688,3461;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199280.2:coding-synonymous;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29051838;ESP6500_GTC=64,1188,4960;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.2805C>T;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(T935);ESP6500_MAF=9.0366,13.7999,10.5924;ESP6500_TAC=1316,11108	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1083,108,0
chr2	29051854	rs895591	A	G	1139.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs895591;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_199280.2|protein_coding|20/20|c.2821A>G|p.Thr941Ala|3172/3548|2821/3060|941/1019||,G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321538.1|protein_coding|19/19|c.2656A>G|p.Thr886Ala|3007/3383|2656/2895|886/964||,G|missense_variant|MODERATE|FAM179A|FAM179A|transcript|NM_001321539.1|protein_coding|16/16|c.2248A>G|p.Thr750Ala|2599/2975|2248/2487|750/828||;p3_1000G_AA=A|||;p3_1000G_AC=2940;p3_1000G_AF=0.587061;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=15944;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.5149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29274720;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2245,1759;ESP6500_AA_GTC=665,915,422;ESP6500_CDS_SIZES=NM_199280.2:3060;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=16;ESP6500_EA_AC=4393,3919;ESP6500_EA_GTC=1205,1983,968;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199280.2:missense;ESP6500_GL=FAM179A;ESP6500_GRCh38_POSITION=2:29051854;ESP6500_GS=58;ESP6500_GTC=1870,2898,1390;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_199280.2:c.2821A>G;ESP6500_HGVS_PROTEIN_VAR=NM_199280.2:p.(T941A);ESP6500_MAF=47.1487,43.9311,46.1026;ESP6500_PH=benign:0.038;ESP6500_TAC=6638,5678	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1168,105,0
chr2	29064842	rs10182566;335635	C	T	950.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10182566;dbSNPBuildID=119;ANN=T|3_prime_UTR_variant|MODIFIER|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|2/2|c.*27G>A|||||27|;p3_1000G_AA=c|||;p3_1000G_AC=1638;p3_1000G_AF=0.327077;p3_1000G_AFR_AF=0.3578;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=16335;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29287708;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1335,2843;ESP6500_AA_GTC=223,889,977;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=29;ESP6500_EA_AC=2241,6171;ESP6500_EA_GTC=306,1629,2271;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029883.2:utr-3;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29064842;ESP6500_GTC=529,2518,3248;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.*27G>A;ESP6500_MAF=26.6405,31.9531,28.4035;ESP6500_TAC=3576,9014;CLINVAR_AF_ESP=0.2840;CLINVAR_AF_EXAC=0.26943;CLINVAR_AF_TGP=0.3271;CLINVAR_ALLELEID=285893;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29064842C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24317;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10182566	GT:AD:DP:GQ:PL	1/1:0,31:31:93:979,93,0
chr2	29065060	rs139768554;~rs72122505;335637	C	CGCT	535.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs139768554,rs59833221,rs35753661;dbSNPBuildID=134;ANN=CGCT|conservative_inframe_insertion|MODERATE|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|2/2|c.3673_3675dupAGC|p.Ser1225dup|3675/7046|3675/3867|1225/1288||;p3_1000G_AC=1871;p3_1000G_AF=0.373602;p3_1000G_AFR_AF=0.5257;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=17644;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29287926;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=INDEL;ESP6500_AA_AC=1580,1994;ESP6500_AA_GTC=462,656,669;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=16;ESP6500_EA_AC=1923,5511;ESP6500_EA_GTC=406,1111,2200;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029883.2:coding;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29065060;ESP6500_GTC=868,1767,2869;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.3675_3676insAGC;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(S1225_E1226insS);ESP6500_MAF=25.8676,44.2082,31.8223;ESP6500_TAC=3503,7505;CLINVAR_ALLELEID=289346;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29065061_29065063dupGCT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:497886;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_ORIGIN=1;CLINVAR_RS=779257474|139768554	GT:AD:DP:GQ:PL	1/1:0,13:13:39:573,39,0
chr2	29071763	rs34253433;287770	C	T	3278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.813;ClippingRankSum=0;DP=235;ExcessHet=3.0103;FS=6.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.43;SOR=1.097;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34253433;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|1/2|c.2499G>A|p.Pro833Pro|2499/7046|2499/3867|833/1288||;p3_1000G_AA=c|||;p3_1000G_AC=625;p3_1000G_AF=0.1248;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=8917;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29294629;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=274,3586;ESP6500_AA_GTC=9,256,1665;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=-10.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=103;ESP6500_EA_AC=1857,6439;ESP6500_EA_GTC=192,1473,2483;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029883.2:coding-synonymous;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29071763;ESP6500_GTC=201,1729,4148;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.2499G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(P833);ESP6500_MAF=22.3843,7.0984,17.5304;ESP6500_TAC=2131,10025;CLINVAR_AF_ESP=0.1753;CLINVAR_AF_EXAC=0.17067;CLINVAR_AF_TGP=0.1248;CLINVAR_ALLELEID=272007;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29071763C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24322;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34253433	GT:AD:DP:GQ:PL	0/1:106,129:235:99:3307,0,2693
chr2	29071888	rs17744093;287769	G	C	5272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.871;ClippingRankSum=0;DP=351;ExcessHet=3.0103;FS=10.642;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.276;SOR=0.428;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17744093;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|1/2|c.2374C>G|p.Leu792Val|2374/7046|2374/3867|792/1288||;p3_1000G_AA=G|||;p3_1000G_AC=626;p3_1000G_AF=0.125;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=19258;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.2137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29294754;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=270,3554;ESP6500_AA_GTC=9,252,1651;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=64;ESP6500_EA_AC=1852,6442;ESP6500_EA_GTC=191,1470,2486;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001029883.2:missense;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29071888;ESP6500_GS=32;ESP6500_GTC=200,1722,4137;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.2374C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(L792V);ESP6500_MAF=22.3294,7.0607,17.5111;ESP6500_PH=possibly-damaging:0.589;ESP6500_TAC=2122,9996;CLINVAR_AF_ESP=0.1751;CLINVAR_AF_EXAC=0.17045;CLINVAR_AF_TGP=0.1250;CLINVAR_ALLELEID=272006;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29071888G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24327|UniProtKB_(protein):A6NGG8#VAR_042649;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17744093	GT:AD:DP:GQ:PL	0/1:163,188:351:99:5301,0,4629
chr2	29072150	rs10200693;193145	A	G	15636.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=490;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=0.722;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10200693;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|1/2|c.2112T>C|p.Asn704Asn|2112/7046|2112/3867|704/1288||;p3_1000G_AA=A|||;p3_1000G_AC=1672;p3_1000G_AF=0.333866;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=21897;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.2604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29295016;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1536,2582;ESP6500_AA_GTC=305,926,828;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=113;ESP6500_EA_AC=2295,6161;ESP6500_EA_GTC=309,1677,2242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029883.2:coding-synonymous;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29072150;ESP6500_GTC=614,2603,3070;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.2112T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(N704);ESP6500_MAF=27.1405,37.2997,30.4676;ESP6500_TAC=3831,8743;CLINVAR_AF_ESP=0.3047;CLINVAR_AF_EXAC=0.26936;CLINVAR_AF_TGP=0.3339;CLINVAR_ALLELEID=190310;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29072150A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24335;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10200693	GT:AD:DP:GQ:PL	1/1:0,489:489:99:15665,1468,0
chr2	29072523	rs10166913;335655	G	A	4151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.865;ClippingRankSum=0;DP=351;ExcessHet=3.0103;FS=7.879;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.03;SOR=1.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10166913;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|1/2|c.1739C>T|p.Thr580Met|1739/7046|1739/3867|580/1288||;p3_1000G_AA=G|||;p3_1000G_AC=1138;p3_1000G_AF=0.227236;p3_1000G_AFR_AF=0.4576;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=19670;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29295389;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1520,2630;ESP6500_AA_GTC=285,950,840;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=43;ESP6500_EA_AC=403,8027;ESP6500_EA_GTC=10,383,3822;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001029883.2:missense;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29072523;ESP6500_GS=81;ESP6500_GTC=295,1333,4662;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.1739C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(T580M);ESP6500_MAF=4.7805,36.6265,15.2862;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=1923,10657;CLINVAR_AF_ESP=0.1529;CLINVAR_AF_EXAC=0.10399;CLINVAR_AF_TGP=0.2272;CLINVAR_ALLELEID=285916;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29072523G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:79309|Illumina_Clinical_Services_Laboratory,Illumina:82230|UniProtKB_(protein):A6NGG8#VAR_042648;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10166913	GT:AD:DP:GQ:PL	0/1:180,170:350:99:4180,0,4750
chr2	29072810	rs13385188;335662	G	A	12795.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=415;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=0.882;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13385188;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|1/2|c.1452C>T|p.Ser484Ser|1452/7046|1452/3867|484/1288||;p3_1000G_AA=G|||;p3_1000G_AC=1661;p3_1000G_AF=0.331669;p3_1000G_AFR_AF=0.4168;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=20580;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.2604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29295676;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1543,2621;ESP6500_AA_GTC=296,951,835;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=83;ESP6500_EA_AC=2295,6161;ESP6500_EA_GTC=309,1677,2242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029883.2:coding-synonymous;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29072810;ESP6500_GTC=605,2628,3077;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.1452C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(S484);ESP6500_MAF=27.1405,37.0557,30.412;ESP6500_TAC=3838,8782;CLINVAR_AF_ESP=0.3041;CLINVAR_AF_EXAC=0.26830;CLINVAR_AF_TGP=0.3317;CLINVAR_ALLELEID=288932;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29072810G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24342;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13385188	GT:AD:DP:GQ:PL	1/1:0,414:414:99:12824,1242,0
chr2	29073000	rs17007544;335665	T	C	4386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.6;ClippingRankSum=0;DP=286;ExcessHet=3.0103;FS=4.654;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-1.314;SOR=0.954;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17007544;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|1/2|c.1262A>G|p.Lys421Arg|1262/7046|1262/3867|421/1288||;p3_1000G_AA=T|||;p3_1000G_AC=522;p3_1000G_AF=0.104233;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=19180;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29295866;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=203,3811;ESP6500_AA_GTC=4,195,1808;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=3.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=89;ESP6500_EA_AC=324,8020;ESP6500_EA_GTC=5,314,3853;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001029883.2:missense;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29073000;ESP6500_GS=26;ESP6500_GTC=9,509,5661;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.1262A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(K421R);ESP6500_MAF=3.883,5.0573,4.2644;ESP6500_PH=probably-damaging:0.97;ESP6500_TAC=527,11831;CLINVAR_AF_ESP=0.0426;CLINVAR_AF_EXAC=0.06584;CLINVAR_AF_TGP=0.1042;CLINVAR_ALLELEID=286727;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29073000T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:82252|UniProtKB_(protein):A6NGG8#VAR_042647;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17007544	GT:AD:DP:GQ:PL	0/1:141,144:285:99:4415,0,3808
chr2	29074004	rs62132765;335672	C	T	7248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.604;ClippingRankSum=0;DP=537;ExcessHet=3.0103;FS=3.228;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.664;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62132765;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|1/2|c.258G>A|p.Arg86Arg|258/7046|258/3867|86/1288||;p3_1000G_AA=C|||;p3_1000G_AC=557;p3_1000G_AF=0.111222;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=20671;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.2137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29296870;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=189,3673;ESP6500_AA_GTC=4,181,1746;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=202;ESP6500_EA_AC=1854,6434;ESP6500_EA_GTC=192,1470,2482;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029883.2:coding-synonymous;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29074004;ESP6500_GTC=196,1651,4228;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.258G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(R86);ESP6500_MAF=22.3697,4.8938,16.8148;ESP6500_TAC=2043,10107;CLINVAR_AF_ESP=0.1682;CLINVAR_AF_EXAC=0.16567;CLINVAR_AF_TGP=0.1112;CLINVAR_ALLELEID=285944;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29074004C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24347;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=62132765	GT:AD:DP:GQ:PL	0/1:267,269:536:99:7277,0,7403
chr2	29074202	rs35929540;335674	C	T	5677.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.345;ClippingRankSum=0;DP=453;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.723;SOR=0.728;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35929540;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|C2orf71|C2orf71|transcript|NM_001029883.2|protein_coding|1/2|c.60G>A|p.Gln20Gln|60/7046|60/3867|20/1288||;p3_1000G_AA=C|||;p3_1000G_AC=584;p3_1000G_AF=0.116613;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=21773;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.2137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29297068;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=274,3694;ESP6500_AA_GTC=9,256,1719;ESP6500_CDS_SIZES=NM_001029883.2:3867;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=89;ESP6500_EA_AC=1859,6489;ESP6500_EA_GTC=189,1481,2504;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029883.2:coding-synonymous;ESP6500_GL=C2orf71;ESP6500_GRCh38_POSITION=2:29074202;ESP6500_GTC=198,1737,4223;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029883.2:c.60G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001029883.2:p.(Q20);ESP6500_MAF=22.2688,6.9052,17.3189;ESP6500_TAC=2133,10183;CLINVAR_AF_ESP=0.1732;CLINVAR_AF_EXAC=0.17088;CLINVAR_AF_TGP=0.1166;CLINVAR_ALLELEID=286730;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.29074202C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24352;CLINVAR_GENEINFO=PCARE:388939;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35929540	GT:AD:DP:GQ:PL	0/1:236,216:452:99:5706,0,6404
chr2	29133803	rs3100232	A	G	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.33;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3100232;dbSNPBuildID=103;ANN=G|synonymous_variant|LOW|CLIP4|CLIP4|transcript|NM_001287527.1|protein_coding|5/16|c.516A>G|p.Thr172Thr|767/4289|516/2118|172/705||,G|synonymous_variant|LOW|CLIP4|CLIP4|transcript|NM_001287528.1|protein_coding|5/15|c.516A>G|p.Thr172Thr|803/2353|516/1800|172/599||,G|synonymous_variant|LOW|CLIP4|CLIP4|transcript|NM_024692.5|protein_coding|5/16|c.516A>G|p.Thr172Thr|771/4293|516/2118|172/705||,G|non_coding_transcript_exon_variant|MODIFIER|CLIP4|CLIP4|transcript|NR_109844.1|pseudogene|4/14|n.709A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2079;p3_1000G_AF=0.415136;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=17714;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29356669;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2675,1731;ESP6500_AA_AGE=649.3+/-398.9;ESP6500_AA_GTC=829,1017,357;ESP6500_CDS_SIZES=NM_024692.4:2118;ESP6500_CG=-2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=98;ESP6500_EA_AC=3414,5186;ESP6500_EA_AGE=503.0+/-375.8;ESP6500_EA_GTC=688,2038,1574;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024692.4:coding-synonymous;ESP6500_GL=CLIP4;ESP6500_GRCh38_POSITION=2:29133803;ESP6500_GTC=1517,3055,1931;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024692.4:c.516A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024692.4:p.(T172);ESP6500_MAF=39.6977,39.2873,46.8169;ESP6500_TAC=6089,6917	GT:AD:DP:GQ:PL	0/1:8,8:16:99:252,0,221
chr2	29133862	rs3768674	T	C	117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.842;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768674;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287527.1|protein_coding|5/15|c.529+46T>C||||||,C|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287528.1|protein_coding|5/14|c.529+46T>C||||||,C|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NR_109844.1|pseudogene|4/13|n.722+46T>C||||||,C|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_024692.5|protein_coding|5/15|c.529+46T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1182;p3_1000G_AF=0.236022;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=17079;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29356728;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1398,3006;ESP6500_AA_AGE=418.7+/-338.4;ESP6500_AA_GTC=237,924,1041;ESP6500_CDS_SIZES=NM_024692.4:2118;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=41;ESP6500_EA_AC=1563,7037;ESP6500_EA_AGE=273.9+/-290.9;ESP6500_EA_GTC=160,1243,2897;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024692.4:intron;ESP6500_GL=CLIP4;ESP6500_GRCh38_POSITION=2:29133862;ESP6500_GTC=397,2167,3938;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024692.4:c.529+46T>C;ESP6500_MAF=18.1744,31.7439,22.7699;ESP6500_TAC=2961,10043	GT:AD:DP:GQ:PL	0/1:3,4:7:89:146,0,89
chr2	29143964	rs3213947	A	G	1026.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.42;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.542;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-0.805;SOR=1.123;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213947;dbSNPBuildID=106;ANN=G|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287527.1|protein_coding|7/15|c.885+19A>G||||||,G|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287528.1|protein_coding|7/14|c.885+19A>G||||||,G|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NR_109844.1|pseudogene|6/13|n.1078+19A>G||||||,G|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_024692.5|protein_coding|7/15|c.885+19A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2229;p3_1000G_AF=0.445088;p3_1000G_AFR_AF=0.1929;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=20210;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29366830;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1061,3345;ESP6500_AA_AGE=385.6+/-325.8;ESP6500_AA_GTC=136,789,1278;ESP6500_CDS_SIZES=NM_024692.4:2118;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=184;ESP6500_EA_AC=3030,5570;ESP6500_EA_AGE=468.0+/-367.2;ESP6500_EA_GTC=538,1954,1808;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024692.4:intron;ESP6500_GL=CLIP4;ESP6500_GRCh38_POSITION=2:29143964;ESP6500_GTC=674,2743,3086;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024692.4:c.885+19A>G;ESP6500_MAF=35.2326,24.0808,31.4547;ESP6500_TAC=4091,8915	GT:AD:DP:GQ:PL	0/1:21,35:56:99:1055,0,471
chr2	29144009	rs3217572	C	CACAG	1492.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3217572;dbSNPBuildID=106;ANN=CACAG|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287527.1|protein_coding|7/15|c.885+65_885+68dupACAG||||||INFO_REALIGN_3_PRIME,CACAG|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287528.1|protein_coding|7/14|c.885+65_885+68dupACAG||||||INFO_REALIGN_3_PRIME,CACAG|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NR_109844.1|pseudogene|6/13|n.1078+65_1078+68dupACAG||||||INFO_REALIGN_3_PRIME,CACAG|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_024692.5|protein_coding|7/15|c.885+65_885+68dupACAG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1530,102,0
chr2	29160508	rs2305450	G	A	224.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305450;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287527.1|protein_coding|12/15|c.1534+41G>A||||||,A|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287528.1|protein_coding|12/14|c.1534+41G>A||||||,A|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NR_109844.1|pseudogene|11/13|n.1782+41G>A||||||,A|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_024692.5|protein_coding|12/15|c.1534+41G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4325;p3_1000G_AF=0.863618;p3_1000G_AFR_AF=0.8048;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=17223;p3_1000G_EAS_AF=0.876;p3_1000G_EUR_AF=0.9085;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29383374;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3630,776;ESP6500_AA_AGE=314.7+/-293.7;ESP6500_AA_GTC=1498,634,71;ESP6500_CDS_SIZES=NM_024692.4:2118;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=7775,825;ESP6500_EA_AGE=190.6+/-237.0;ESP6500_EA_GTC=3519,737,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024692.4:intron;ESP6500_GL=CLIP4;ESP6500_GRCh38_POSITION=2:29160508;ESP6500_GTC=5017,1371,115;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024692.4:c.1534+41G>A;ESP6500_MAF=9.593,17.6123,12.3097;ESP6500_TAC=11405,1601	GT:AD:DP:GQ:PL	1/1:0,8:8:24:253,24,0
chr2	29163780	rs10200936	G	C	981.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10200936;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287527.1|protein_coding|12/15|c.1535-51G>C||||||,C|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_001287528.1|protein_coding|12/14|c.1535-51G>C||||||,C|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NR_109844.1|pseudogene|11/13|n.1783-51G>C||||||,C|intron_variant|MODIFIER|CLIP4|CLIP4|transcript|NM_024692.5|protein_coding|12/15|c.1535-51G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3290;p3_1000G_AF=0.656949;p3_1000G_AFR_AF=0.6452;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=18631;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.4652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29386646;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2727,1679;ESP6500_AA_AGE=509.3+/-367.2;ESP6500_AA_GTC=824,1079,300;ESP6500_CDS_SIZES=NM_024692.4:2118;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=70;ESP6500_EA_AC=3807,4793;ESP6500_EA_AGE=611.1+/-395.8;ESP6500_EA_GTC=840,2127,1333;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024692.4:intron;ESP6500_GL=CLIP4;ESP6500_GRCh38_POSITION=2:29163780;ESP6500_GTC=1664,3206,1633;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_024692.4:c.1535-51G>C;ESP6500_MAF=44.2674,38.1071,49.7616;ESP6500_TAC=6534,6472	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1010,90,0
chr2	29193159	rs1391843363;rs397706189;rs10625834;335682	C	CATTG	727.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=2.584;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10625834;dbSNPBuildID=151,136;ANN=CATTG|3_prime_UTR_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|29/29|c.*61_*64dupCAAT|||||64|;p3_1000G_AC=1989;p3_1000G_AF=0.397165;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=20192;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29416025;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=288960;CLINVAR_CLNDISDB=MedGen:CN239480;CLINVAR_CLNDN=Neuroblastoma_Susceptibility;CLINVAR_CLNHGVS=NC_000002.12:g.29193160_29193163dupATTG;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:563214;CLINVAR_GENEINFO=ALK:238;CLINVAR_ORIGIN=1;CLINVAR_RS=397706189	GT:AD:DP:GQ:PL	1/1:0,16:16:51:765,51,0
chr2	29193500	rs1881421;133476	G	C	1532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=3.112;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=29.85;ReadPosRankSum=-0.334;SOR=0.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1881421;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|ALK|ALK|transcript|NM_004304.4|protein_coding|29/29|c.4587C>G|p.Asp1529Glu|5539/6265|4587/4863|1529/1620||;p3_1000G_AA=C|||;p3_1000G_AC=2869;p3_1000G_AF=0.572883;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=17724;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.3837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29416366;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2681,1725;ESP6500_AA_AGE=517.7+/-369.5;ESP6500_AA_GTC=834,1013,356;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=191;ESP6500_EA_AC=2957,5643;ESP6500_EA_AGE=667.4+/-402.5;ESP6500_EA_GTC=508,1941,1851;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004304.4:missense;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29193500;ESP6500_GS=45;ESP6500_GTC=1342,2954,2207;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.4587C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(D1529E);ESP6500_MAF=34.3837,39.1512,43.3492;ESP6500_PH=benign:0.0;ESP6500_TAC=5638,7368;CLINVAR_AF_ESP=0.4335;CLINVAR_AF_EXAC=0.46002;CLINVAR_ALLELEID=137215;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C2751681,OMIM:613014|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Neuroblastoma_3|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29193500G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24365|UniProtKB_(protein):Q9UM73#VAR_031044;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1881421	GT:AD:DP:GQ:PL	1/1:1,42:43:99:1561,119,0
chr2	29193615	rs1881420;133474	T	C	2306.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=1.296;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1881420;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|ALK|ALK|transcript|NM_004304.4|protein_coding|29/29|c.4472A>G|p.Lys1491Arg|5424/6265|4472/4863|1491/1620||;p3_1000G_AA=T|||;p3_1000G_AC=2079;p3_1000G_AF=0.415136;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=18547;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.2336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29416481;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA_AC=1068,3338;ESP6500_AA_AGE=389.1+/-327.2;ESP6500_AA_GTC=147,774,1282;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=1.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=116;ESP6500_EA_AC=1837,6763;ESP6500_EA_AGE=330.1+/-319.0;ESP6500_EA_GTC=216,1405,2679;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004304.4:missense;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29193615;ESP6500_GS=26;ESP6500_GTC=363,2179,3961;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.4472A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(K1491R);ESP6500_MAF=21.3605,24.2397,22.3358;ESP6500_PH=benign:0.0;ESP6500_TAC=2905,10101;CLINVAR_AF_ESP=0.2234;CLINVAR_AF_EXAC=0.33182;CLINVAR_AF_TGP=0.4151;CLINVAR_ALLELEID=137213;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C2751681,OMIM:613014|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Neuroblastoma_3|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29193615T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24386|UniProtKB_(protein):Q9UM73#VAR_031043;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1881420	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2335,207,0
chr2	29193706	rs1670283;133472	T	C	2676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1670283;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|ALK|ALK|transcript|NM_004304.4|protein_coding|29/29|c.4381A>G|p.Ile1461Val|5333/6265|4381/4863|1461/1620||;p3_1000G_AA=C|||;p3_1000G_AC=4969;p3_1000G_AF=0.992212;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16243;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29416572;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA_AC=4283,123;ESP6500_AA_AGE=92.5+/-131.2;ESP6500_AA_GTC=2082,119,2;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=87;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004304.4:missense;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29193706;ESP6500_GS=29;ESP6500_GTC=6379,122,2;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.4381A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(I1461V);ESP6500_MAF=0.0349,2.7916,0.9688;ESP6500_PH=benign:0.0;ESP6500_TAC=12880,126;CLINVAR_ALLELEID=137211;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C2751681,OMIM:613014|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Neuroblastoma_3|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29193706T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24362|UniProtKB_(protein):Q9UM73#VAR_031042;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1670283	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2705,252,0
chr2	29197449	rs3738870	C	T	541.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738870;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|27/28|c.4073+93G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1973;p3_1000G_AF=0.39397;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=20805;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29420315;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:570,48,0
chr2	29207022	rs4666178	G	A	658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666178;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|26/28|c.3938+149C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4116;p3_1000G_AF=0.821885;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=19947;p3_1000G_EAS_AF=0.8462;p3_1000G_EUR_AF=0.7833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29429888;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:687,60,0
chr2	29220507	rs4665446	G	A	696.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=3.716;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665446;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|23/28|c.3645+199C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2072;p3_1000G_AF=0.413738;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=19650;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29443373;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:725,60,0
chr2	29221210	rs1534545	G	T	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.29;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1534545;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|22/28|c.3516-375C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1876;p3_1000G_AF=0.374601;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=21403;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29444076;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:873,81,0
chr2	29221229	rs1569156	C	T	792.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1569156;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|22/28|c.3516-394G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4581;p3_1000G_AF=0.914736;p3_1000G_AFR_AF=0.7579;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=21233;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29444095;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:821,75,0
chr2	29222592	rs3795850;335694	G	T	425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795850;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|ALK|ALK|transcript|NM_004304.4|protein_coding|21/29|c.3375C>A|p.Gly1125Gly|4327/6265|3375/4863|1125/1620||;p3_1000G_AA=G|||;p3_1000G_AC=2083;p3_1000G_AF=0.415935;p3_1000G_AFR_AF=0.2602;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=15975;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.2346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29445458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1110,3296;ESP6500_AA_AGE=398.1+/-330.7;ESP6500_AA_GTC=148,814,1241;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=-8.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=39;ESP6500_EA_AC=1770,6830;ESP6500_EA_AGE=321.1+/-314.9;ESP6500_EA_GTC=204,1362,2734;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004304.4:coding-synonymous;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29222592;ESP6500_GTC=352,2176,3975;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.3375C>A;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(G1125);ESP6500_MAF=20.5814,25.1929,22.1436;ESP6500_TAC=2880,10126;CLINVAR_AF_ESP=0.2214;CLINVAR_AF_EXAC=0.32715;CLINVAR_AF_TGP=0.4159;CLINVAR_ALLELEID=289376;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C2751681,OMIM:613014|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Neuroblastoma_3|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29222592G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24401;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3795850	GT:AD:DP:GQ:PL	1/1:0,13:13:39:454,39,0
chr2	29223318	rs2276550	C	G	1550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276550;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|20/28|c.3359+24G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2107;p3_1000G_AF=0.420727;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=19616;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.2356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29446184;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1116,3290;ESP6500_AA_AGE=398.3+/-330.8;ESP6500_AA_GTC=151,814,1238;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=1790,6810;ESP6500_EA_AGE=323.0+/-315.8;ESP6500_EA_GTC=210,1370,2720;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004304.4:intron;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29223318;ESP6500_GTC=361,2184,3958;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.3359+24G>C;ESP6500_MAF=20.814,25.3291,22.3435;ESP6500_TAC=2906,10100	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1579,147,0
chr2	29226953	rs2293563;259270	C	T	650.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.518;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.028;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.14;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293563;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ALK|ALK|transcript|NM_004304.4|protein_coding|18/29|c.3036G>A|p.Thr1012Thr|3988/6265|3036/4863|1012/1620||;p3_1000G_AA=C|||;p3_1000G_AC=851;p3_1000G_AF=0.169928;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=21422;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29449819;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=974,3432;ESP6500_AA_AGE=366.4+/-317.8;ESP6500_AA_GTC=105,764,1334;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=-10.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=187;ESP6500_EA_AC=1492,7108;ESP6500_EA_AGE=283.2+/-296.0;ESP6500_EA_GTC=137,1218,2945;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004304.4:coding-synonymous;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29226953;ESP6500_GTC=242,1982,4279;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.3036G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(T1012);ESP6500_MAF=17.3488,22.1062,18.9605;ESP6500_TAC=2466,10540;CLINVAR_AF_ESP=0.1896;CLINVAR_AF_EXAC=0.15908;CLINVAR_AF_TGP=0.1699;CLINVAR_ALLELEID=250718;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29226953C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24380;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2293563	GT:AD:DP:GQ:PL	0/1:29,26:55:99:679,0,742
chr2	29232401	rs2256740;259268	A	G	588.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.078;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.897;SOR=0.482;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2256740;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|ALK|ALK|transcript|NM_004304.4|protein_coding|15/29|c.2535T>C|p.Gly845Gly|3487/6265|2535/4863|845/1620||;p3_1000G_AA=G|||;p3_1000G_AC=2504;p3_1000G_AF=0.5;p3_1000G_AFR_AF=0.534;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=17746;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.7247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29455267;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2420,1986;ESP6500_AA_AGE=558.2+/-379.9;ESP6500_AA_GTC=661,1098,444;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=-5.0;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=69;ESP6500_EA_AC=6182,2418;ESP6500_EA_AGE=401.3+/-347.1;ESP6500_EA_GTC=2220,1742,338;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004304.4:coding-synonymous;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29232401;ESP6500_GTC=2881,2840,782;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.2535T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(G845);ESP6500_MAF=28.1163,45.0749,33.8613;ESP6500_TAC=8602,4404;CLINVAR_ALLELEID=250719;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C2751681,OMIM:613014|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Neuroblastoma_3|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29232401A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24383;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2256740	GT:AD:DP:GQ:PL	0/1:40,27:67:99:617,0,1008
chr2	29275344	rs4589708	A	G	1355.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4589708;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|10/28|c.1912+58T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4264;p3_1000G_AF=0.851438;p3_1000G_AFR_AF=0.6755;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=18120;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29498210;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9632;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1384,108,0
chr2	29318238	rs2276549	C	T	388.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.641;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.693;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.121;SOR=0.318;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276549;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|8/28|c.1647+66G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2928;p3_1000G_AF=0.584665;p3_1000G_AFR_AF=0.1354;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=18433;p3_1000G_EAS_AF=0.7966;p3_1000G_EUR_AF=0.6938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29541104;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,16:35:99:417,0,577
chr2	29320648	rs12151564	C	T	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.838;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=0.325;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12151564;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|7/28|c.1546+103G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=364;p3_1000G_AF=0.0726837;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=18829;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29543514;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:86:280,0,86
chr2	29320797	rs2293564;259266	T	C	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.206;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=2.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.369;SOR=0.553;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293564;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|ALK|ALK|transcript|NM_004304.4|protein_coding|7/29|c.1500A>G|p.Gln500Gln|2452/6265|1500/4863|500/1620||;p3_1000G_AA=t|||;p3_1000G_AC=3889;p3_1000G_AF=0.776558;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=17652;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.9235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29543663;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.864;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2356,2050;ESP6500_AA_AGE=609.3+/-391.3;ESP6500_AA_GTC=618,1120,465;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=1.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=166;ESP6500_EA_AC=7931,669;ESP6500_EA_AGE=789.2+/-407.6;ESP6500_EA_GTC=3657,617,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004304.4:coding-synonymous;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29320797;ESP6500_GTC=4275,1737,491;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.1500A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(Q500);ESP6500_MAF=7.7791,46.5275,20.9057;ESP6500_TAC=10287,2719;CLINVAR_ALLELEID=250720;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C2751681,OMIM:613014|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Neuroblastoma_3|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29320797T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24368;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2293564	GT:AD:DP:GQ:PL	0/1:17,19:36:99:484,0,447
chr2	29695074	rs2256376	C	G	457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2256376;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ALK|ALK|transcript|NM_004304.4|protein_coding|2/28|c.788-60G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3043;p3_1000G_AF=0.607628;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=20424;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.7913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29917940;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7843;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:486,39,0
chr2	29717663	rs2246745;259274	A	T	3708.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=131;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=0.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2246745;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ALK|ALK|transcript|NM_004304.4|protein_coding|2/29|c.702T>A|p.Pro234Pro|1654/6265|702/4863|234/1620||;p3_1000G_AA=A|||;p3_1000G_AC=2951;p3_1000G_AF=0.589257;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=20442;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.7913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29940529;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7025;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1172,3234;ESP6500_AA_AGE=409.7+/-335.1;ESP6500_AA_GTC=157,858,1188;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=1.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=150;ESP6500_EA_AC=6983,1617;ESP6500_EA_AGE=742.8+/-407.2;ESP6500_EA_GTC=2840,1303,157;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004304.4:coding-synonymous;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29717663;ESP6500_GTC=2997,2161,1345;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.702T>A;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(P234);ESP6500_MAF=18.8023,26.6001,37.2982;ESP6500_TAC=8155,4851;CLINVAR_ALLELEID=250722;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C2751681,OMIM:613014|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Neuroblastoma_3|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29717663A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24393;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2246745	GT:AD:DP:GQ:PL	1/1:0,131:131:99:3737,392,0
chr2	29920633	rs4358080;259269	G	C	2261.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=1.926;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4358080;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|ALK|ALK|transcript|NM_004304.4|protein_coding|1/29|c.27C>G|p.Leu9Leu|979/6265|27/4863|9/1620||;p3_1000G_AA=C|||;p3_1000G_AC=4476;p3_1000G_AF=0.89377;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=12200;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30143499;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2838,380;ESP6500_AA_GTC=1249,340,20;ESP6500_CDS_SIZES=NM_004304.4:4863;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=4;ESP6500_EA_AC=6073,509;ESP6500_EA_GTC=2805,463,23;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004304.4:coding-synonymous;ESP6500_GL=ALK;ESP6500_GRCh38_POSITION=2:29920633;ESP6500_GTC=4054,803,43;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004304.4:c.27C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004304.4:p.(L9);ESP6500_MAF=7.7332,11.8086,9.0714;ESP6500_TAC=8911,889;CLINVAR_ALLELEID=250724;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C2751681,OMIM:613014|MedGen:CN169374|MedGen:CN239480|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Neuroblastoma_3|not_specified|Neuroblastoma_Susceptibility|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.29920633G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24398;CLINVAR_GENEINFO=ALK:238;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4358080	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2290,189,0
chr2	30158639	rs1137288	T	C	812.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=4.731;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.128;SOR=0.537;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1137288;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|YPEL5|YPEL5|transcript|NM_001127399.1|protein_coding|4/4|c.162T>C|p.Ser54Ser|426/2320|162/366|54/121||,C|synonymous_variant|LOW|YPEL5|YPEL5|transcript|NM_001127400.1|protein_coding|4/4|c.162T>C|p.Ser54Ser|662/2556|162/366|54/121||,C|synonymous_variant|LOW|YPEL5|YPEL5|transcript|NM_001127401.1|protein_coding|5/5|c.162T>C|p.Ser54Ser|723/2617|162/366|54/121||,C|synonymous_variant|LOW|YPEL5|YPEL5|transcript|NM_016061.2|protein_coding|3/3|c.162T>C|p.Ser54Ser|365/2259|162/366|54/121||;p3_1000G_AA=T|||;p3_1000G_AC=2348;p3_1000G_AF=0.46885;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=21493;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.4503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30381505;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1472,2934;ESP6500_AA_GTC=260,952,991;ESP6500_CDS_SIZES=NM_016061.2:366,NM_001127401.1:366,NM_001127400.1:366,NM_001127399.1:366;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=102;ESP6500_EA_AC=4032,4568;ESP6500_EA_GTC=925,2182,1193;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016061.2:coding-synonymous,NM_001127401.1:coding-synonymous,NM_001127400.1:coding-synonymous,NM_001127399.1:coding-synonymous;ESP6500_GL=YPEL5;ESP6500_GRCh38_POSITION=2:30158639;ESP6500_GTC=1185,3134,2184;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016061.2:c.162T>C,NM_001127401.1:c.162T>C,NM_001127400.1:c.162T>C,NM_001127399.1:c.162T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016061.2:p.(S54),NM_001127401.1:p.(S54),NM_001127400.1:p.(S54),NM_001127399.1:p.(S54);ESP6500_MAF=46.8837,33.409,42.3189;ESP6500_TAC=5504,7502	GT:AD:DP:GQ:PL	0/1:38,32:70:99:841,0,1004
chr2	30552433	rs12053428	G	A	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.73;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=-0.209;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12053428;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_182551.4|protein_coding|4/6|c.479-9713G>A||||||,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001002257.2|protein_coding|3/5|c.365-9713G>A||||||,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001304445.1|protein_coding|5/7|c.365-9713G>A||||||,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001304446.1|protein_coding|2/5|c.-165-60G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4432;p3_1000G_AF=0.884984;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=16672;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.8419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30775299;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:176,0,293
chr2	30552595	rs17009714	G	A	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.515;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.647;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17009714;dbSNPBuildID=123;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|LCLAT1|LCLAT1|transcript|NM_001304446.1|protein_coding|3/6|c.-63G>A||||||,A|5_prime_UTR_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001304446.1|protein_coding|3/6|c.-63G>A|||||9559|,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_182551.4|protein_coding|4/6|c.479-9551G>A||||||,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001002257.2|protein_coding|3/5|c.365-9551G>A||||||,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001304445.1|protein_coding|5/7|c.365-9551G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=372;p3_1000G_AF=0.0742812;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=16302;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.0338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30775461;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:255,0,416
chr2	30567952	rs6759011	G	T	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=0.524;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6759011;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_182551.4|protein_coding|5/6|c.626-108G>T||||||,T|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001002257.2|protein_coding|4/5|c.512-108G>T||||||,T|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001304445.1|protein_coding|6/7|c.512-108G>T||||||,T|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001304446.1|protein_coding|4/5|c.140-108G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4257;p3_1000G_AF=0.85004;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=16586;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30790818;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7055;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,112
chr2	30605926	rs2248777	G	A	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.122;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=-0.047;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2248777;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_182551.4|protein_coding|6/6|c.743-34191G>A||||||,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001002257.2|protein_coding|5/5|c.629-34191G>A||||||,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001304445.1|protein_coding|7/7|c.629-34191G>A||||||,A|intron_variant|MODIFIER|LCLAT1|LCLAT1|transcript|NM_001304446.1|protein_coding|5/5|c.257-34191G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=3595;p3_1000G_AF=0.717851;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=18649;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.7227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30828792;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,14:21:99:369,0,144
chr2	30762963	rs498686	C	T	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.616;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=0.041;SOR=1.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs498686;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|CAPN13|CAPN13|transcript|NM_144575.2|protein_coding|7/22|c.774+119G>A||||||	GT:AD:DP:GQ:PL	0/1:8,13:21:99:388,0,271
chr2	30764123	rs579016	G	T	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.104;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.726;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=2.15;SOR=0.334;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs579016;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|CAPN13|CAPN13|transcript|NM_144575.2|protein_coding|6/22|c.699+9C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4364;p3_1000G_AF=0.871406;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=19578;p3_1000G_EAS_AF=0.8631;p3_1000G_EUR_AF=0.8926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30986989;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3262,736;ESP6500_AA_GTC=1346,570,83;ESP6500_CDS_SIZES=NM_144575.2:2010;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=47;ESP6500_EA_AC=7550,778;ESP6500_EA_GTC=3432,686,46;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144575.2:intron;ESP6500_GL=CAPN13;ESP6500_GRCh38_POSITION=2:30764123;ESP6500_GTC=4778,1256,129;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_144575.2:c.699+9C>A;ESP6500_MAF=9.342,18.4092,12.283;ESP6500_TAC=10812,1514	GT:AD:DP:GQ:PL	0/1:33,17:50:99:399,0,955
chr2	30787111	rs1915125	G	C	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.42;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.377;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1915125;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|CAPN13|CAPN13|transcript|NM_144575.2|protein_coding|2/22|c.198+17C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4587;p3_1000G_AF=0.915935;p3_1000G_AFR_AF=0.941;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=17118;p3_1000G_EAS_AF=0.9167;p3_1000G_EUR_AF=0.8529;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31009977;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3618,300;ESP6500_AA_GTC=1669,280,10;ESP6500_CDS_SIZES=NM_144575.2:2010;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=27;ESP6500_EA_AC=6938,1278;ESP6500_EA_GTC=2936,1066,106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144575.2:intron;ESP6500_GL=CAPN13;ESP6500_GRCh38_POSITION=2:30787111;ESP6500_GTC=4605,1346,116;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_144575.2:c.198+17C>G;ESP6500_MAF=15.555,7.657,13.0048;ESP6500_TAC=10556,1578	GT:AD:DP:GQ:PL	0/1:6,10:16:99:328,0,148
chr2	30966091	rs889896	C	T	578.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs889896;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001253826.1|protein_coding|4/15|c.413+113G>A||||||,T|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001253827.1|protein_coding|5/16|c.338+113G>A||||||,T|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_024572.3|protein_coding|3/14|c.398+113G>A||||||,T|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NR_045602.1|pseudogene|4/15|n.1171+113G>A||||||,T|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329095.1|protein_coding|4/15|c.293+113G>A||||||,T|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329096.1|protein_coding|5/16|c.338+113G>A||||||,T|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329097.1|protein_coding|3/12|c.398+113G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4889;p3_1000G_AF=0.976238;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=21841;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31188957;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:607,51,0
chr2	30966370	rs2303324	G	A	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.382;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=0.109;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303324;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001253826.1|protein_coding|3/15|c.315-68C>T||||||,A|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001253827.1|protein_coding|4/16|c.240-68C>T||||||,A|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_024572.3|protein_coding|2/14|c.300-68C>T||||||,A|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NR_045602.1|pseudogene|3/15|n.1073-68C>T||||||,A|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329095.1|protein_coding|3/15|c.195-68C>T||||||,A|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329096.1|protein_coding|4/16|c.240-68C>T||||||,A|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329097.1|protein_coding|2/12|c.300-68C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=927;p3_1000G_AF=0.185104;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=19830;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.1382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31189236;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,10:24:99:275,0,476
chr2	30966438	rs2303323	T	C	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.53;ReadPosRankSum=0.549;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303323;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001253826.1|protein_coding|3/15|c.315-136A>G||||||,C|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001253827.1|protein_coding|4/16|c.240-136A>G||||||,C|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_024572.3|protein_coding|2/14|c.300-136A>G||||||,C|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NR_045602.1|pseudogene|3/15|n.1073-136A>G||||||,C|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329095.1|protein_coding|3/15|c.195-136A>G||||||,C|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329096.1|protein_coding|4/16|c.240-136A>G||||||,C|intron_variant|MODIFIER|GALNT14|GALNT14|transcript|NM_001329097.1|protein_coding|2/12|c.300-136A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=932;p3_1000G_AF=0.186102;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=19537;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.1382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31189304;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:60:60,0,205
chr2	31178424	rs4952052	A	C	548.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4952052;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|18/21|c.1779+87T>G||||||,C|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|18/21|c.1251+87T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4943;p3_1000G_AF=0.987021;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19567;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31401290;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:577,48,0
chr2	31187842	rs1822496	C	T	1101.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1822496;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|14/21|c.1531-28G>A||||||,T|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|14/21|c.1003-28G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19208;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31410708;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1374,10;ESP6500_AA_GTC=682,10,0;ESP6500_CDS_SIZES=NM_001145122.1:2055;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=73;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145122.1:intron;ESP6500_GL=CAPN14;ESP6500_GRCh38_POSITION=2:31187842;ESP6500_GTC=2273,10,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001145122.1:c.1531-28G>A;ESP6500_MAF=0.0,0.7225,0.219;ESP6500_TAC=4556,10	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1130,114,0
chr2	31191430	rs766985004	GAA	G	13.91	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.18;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=1.07;SOR=0.148;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|11/21|c.1279-25_1279-24delTT||||||,G|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|11/21|c.751-25_751-24delTT||||||	GT:AD:DP:GQ:PL	0/1:5,2:7:51:51,0,154
chr2	31191941	rs1562022	C	G	638.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1562022;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|11/22|c.1272G>C|p.Leu424Leu|1414/3822|1272/2055|424/684||,G|synonymous_variant|LOW|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|11/22|c.744G>C|p.Leu248Leu|1478/3886|744/1527|248/508||;p3_1000G_AA=G|||;p3_1000G_AC=4577;p3_1000G_AF=0.913938;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=17464;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.9354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31414807;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1197,187;ESP6500_AA_GTC=520,157,15;ESP6500_CDS_SIZES=NM_001145122.1:2055;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=25;ESP6500_EA_AC=2943,239;ESP6500_EA_GTC=1362,219,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145122.1:coding-synonymous;ESP6500_GL=CAPN14;ESP6500_GRCh38_POSITION=2:31191941;ESP6500_GTC=1882,376,25;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001145122.1:c.1272G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001145122.1:p.(L424);ESP6500_MAF=7.511,13.5116,9.3298;ESP6500_TAC=4140,426	GT:AD:DP:GQ:PL	1/1:0,19:19:57:667,57,0
chr2	31192093	rs141014145	A	G	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=-1.165;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141014145;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|11/22|c.1120T>C|p.Phe374Leu|1262/3822|1120/2055|374/684||,G|missense_variant|MODERATE|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|11/22|c.592T>C|p.Phe198Leu|1326/3886|592/1527|198/508||;p3_1000G_AA=A|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20061;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31414959;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,4:20:73:73,0,390
chr2	31193101	rs7591444	T	C	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.239;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7591444;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|10/21|c.1114+30A>G||||||,C|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|10/21|c.586+30A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2778;p3_1000G_AF=0.554712;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=17473;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.5924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31415967;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=638,746;ESP6500_AA_GTC=172,294,226;ESP6500_CDS_SIZES=NM_001145122.1:2055;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=35;ESP6500_EA_AC=1802,1380;ESP6500_EA_GTC=525,752,314;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145122.1:intron;ESP6500_GL=CAPN14;ESP6500_GRCh38_POSITION=2:31193101;ESP6500_GTC=697,1046,540;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001145122.1:c.1114+30A>G;ESP6500_MAF=43.369,46.0983,46.5615;ESP6500_TAC=2440,2126	GT:AD:DP:GQ:PL	0/1:12,10:22:99:298,0,374
chr2	31193347	rs11124248	T	C	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.933;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=0.758;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11124248;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|9/21|c.951-53A>G||||||,C|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|9/21|c.423-53A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2282;p3_1000G_AF=0.455671;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=21709;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.5537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31416213;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,5:16:99:133,0,330
chr2	31197379	rs7568661	A	G	722.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.85;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=1.77;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7568661;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|7/21|c.790-45T>C||||||,G|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|7/21|c.262-45T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1219;p3_1000G_AF=0.243411;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=20608;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.16;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31420245;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=316,1068;ESP6500_AA_GTC=39,238,415;ESP6500_CDS_SIZES=NM_001145122.1:2055;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=79;ESP6500_EA_AC=438,2744;ESP6500_EA_GTC=35,368,1188;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145122.1:intron;ESP6500_GL=CAPN14;ESP6500_GRCh38_POSITION=2:31197379;ESP6500_GTC=74,606,1603;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001145122.1:c.790-45T>C;ESP6500_MAF=13.7649,22.8324,16.5134;ESP6500_TAC=754,3812	GT:AD:DP:GQ:PL	0/1:19,24:43:99:751,0,460
chr2	31199586	rs7563977	T	A	1008.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.703;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.36;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.4;ReadPosRankSum=0.618;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7563977;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|6/21|c.727-54A>T||||||,A|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|6/21|c.199-54A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1218;p3_1000G_AF=0.243211;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=21866;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.16;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31422452;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=316,1068;ESP6500_AA_GTC=39,238,415;ESP6500_CDS_SIZES=NM_001145122.1:2055;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=61;ESP6500_EA_AC=439,2743;ESP6500_EA_GTC=35,369,1187;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145122.1:intron;ESP6500_GL=CAPN14;ESP6500_GRCh38_POSITION=2:31199586;ESP6500_GTC=74,607,1602;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001145122.1:c.727-54A>T;ESP6500_MAF=13.7964,22.8324,16.5353;ESP6500_TAC=755,3811	GT:AD:DP:GQ:PL	0/1:14,38:52:99:1037,0,368
chr2	31199648	rs7564077	T	A	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.362;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=0.863;SOR=0.439;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7564077;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|6/21|c.727-116A>T||||||,A|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|6/21|c.199-116A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1216;p3_1000G_AF=0.242812;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=20804;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.16;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31422514;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,16:23:99:480,0,205
chr2	31200577	rs17011001	G	A	520.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.011;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.167;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17011001;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|6/22|c.600C>T|p.Ala200Ala|742/3822|600/2055|200/684||,A|synonymous_variant|LOW|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|6/22|c.72C>T|p.Ala24Ala|806/3886|72/1527|24/508||;p3_1000G_AA=A|||;p3_1000G_AC=1216;p3_1000G_AF=0.242812;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=18966;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.16;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31423443;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1697;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=316,1068;ESP6500_AA_GTC=39,238,415;ESP6500_CDS_SIZES=NM_001145122.1:2055;ESP6500_CG=-0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=75;ESP6500_EA_AC=438,2744;ESP6500_EA_GTC=35,368,1188;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145122.1:coding-synonymous;ESP6500_GL=CAPN14;ESP6500_GRCh38_POSITION=2:31200577;ESP6500_GTC=74,606,1603;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001145122.1:c.600C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001145122.1:p.(A200);ESP6500_MAF=13.7649,22.8324,16.5134;ESP6500_TAC=754,3812	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,24:54:99:0|1:31200577_G_A:549,0,751
chr2	31202019	rs11692905	C	T	705.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.682;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.198;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.261;SOR=0.922;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11692905;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|4/21|c.415-21G>A||||||,T|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|5/21|c.23+115G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2180;p3_1000G_AF=0.435304;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=17882;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.5268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31424885;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=351,1033;ESP6500_AA_GTC=51,249,392;ESP6500_CDS_SIZES=NM_001145122.1:2055;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=47;ESP6500_EA_AC=1623,1559;ESP6500_EA_GTC=412,799,380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145122.1:intron;ESP6500_GL=CAPN14;ESP6500_GRCh38_POSITION=2:31202019;ESP6500_GTC=463,1048,772;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001145122.1:c.415-21G>A;ESP6500_MAF=48.9943,25.3613,43.2326;ESP6500_TAC=1974,2592	GT:AD:DP:GQ:PL	0/1:15,29:44:99:734,0,367
chr2	31205164	rs1867329	G	T	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.711;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=0.032;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1867329;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001145122.1|protein_coding|2/21|c.225+59C>A||||||,T|intron_variant|MODIFIER|CAPN14|CAPN14|transcript|NM_001321270.1|protein_coding|3/21|c.-167+59C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.1997;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=19800;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.1163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31428030;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:117,0,195
chr2	31244213	rs2295471	G	A	1104.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=2.517;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2295471;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EHD3|EHD3|transcript|NM_014600.2|protein_coding|1/5|c.228-61G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2679;p3_1000G_AF=0.534944;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=20350;p3_1000G_EAS_AF=0.7183;p3_1000G_EUR_AF=0.5338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31467079;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1133,99,0
chr2	31244485	rs2295473	T	A	1208.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=2.242;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2295473;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EHD3|EHD3|transcript|NM_014600.2|protein_coding|2/5|c.404+35T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3338;p3_1000G_AF=0.666534;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=21655;p3_1000G_EAS_AF=0.7976;p3_1000G_EUR_AF=0.5646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31467351;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2371,2035;ESP6500_AA_AGE=608.2+/-391.1;ESP6500_AA_GTC=635,1101,467;ESP6500_CDS_SIZES=NM_014600.2:1608;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=4959,3641;ESP6500_EA_AGE=623.0+/-397.4;ESP6500_EA_GTC=1413,2133,754;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014600.2:intron;ESP6500_GL=EHD3;ESP6500_GRCh38_POSITION=2:31244485;ESP6500_GTC=2048,3234,1221;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_014600.2:c.404+35T>A;ESP6500_MAF=42.3372,46.187,43.6414;ESP6500_TAC=7330,5676	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1237,111,0
chr2	31261024	rs13028669	T	C	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13028669;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|EHD3|EHD3|transcript|NM_014600.2|protein_coding|4/5|c.915+102T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3353;p3_1000G_AF=0.669529;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=19246;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31483890;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:463,42,0
chr2	31261468	rs654650	G	A	668.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.95;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs654650;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|EHD3|EHD3|transcript|NM_014600.2|protein_coding|4/5|c.916-81G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4479;p3_1000G_AF=0.894369;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=18105;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31484334;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:697,54,0
chr2	31266099	rs619002	C	T	788.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs619002;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|EHD3|EHD3|transcript|NM_014600.2|protein_coding|5/5|c.1081-78C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4509;p3_1000G_AF=0.900359;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.8991;p3_1000G_AN=5008;p3_1000G_DP=20620;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.7942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31488965;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:817,84,0
chr2	31266761	rs541464935;rs67643147;rs766594592	TAC	T	130.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.781;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.96;ReadPosRankSum=-1.458;SOR=0.211;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs67643147;dbSNPBuildID=135,144,142;ANN=T|3_prime_UTR_variant|MODIFIER|EHD3|EHD3|transcript|NM_014600.2|protein_coding|6/6|c.*89_*90delCA|||||89|INFO_REALIGN_3_PRIME;p3_1000G_AC=1393;p3_1000G_AF=0.278155;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=17562;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.2117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31489627;p3_1000G_GRCH37_REF=TAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:24,9:33:99:168,0,658
chr2	31344766	rs207454	T	G	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=1.07;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs207454;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|30/35|c.3352-30A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=985;p3_1000G_AF=0.196685;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=17757;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.0825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31567632;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1411,2995;ESP6500_AA_AGE=680.2+/-403.8;ESP6500_AA_GTC=228,955,1020;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=88;ESP6500_EA_AC=795,7805;ESP6500_EA_AGE=777.8+/-407.7;ESP6500_EA_GTC=40,715,3545;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:intron;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31344766;ESP6500_GTC=268,1670,4565;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.3352-30A>C;ESP6500_MAF=9.2442,32.0245,16.9614;ESP6500_TAC=2206,10800	GT:AD:DP:GQ:PL	0/1:11,11:22:99:288,0,239
chr2	31344877	rs566224	T	C	60.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs566224;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|30/35|c.3352-141A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4990;p3_1000G_AF=0.996406;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=22246;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31567743;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:88,6,0
chr2	31346605	rs7599175	A	G	227.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7599175;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|30/35|c.3351+164T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3995;p3_1000G_AF=0.797724;p3_1000G_AFR_AF=0.7655;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=20240;p3_1000G_EAS_AF=0.8442;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31569471;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:256,18,0
chr2	31347510	rs1366813;191300	T	C	1731.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1366813;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|29/35|c.3276+12A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3893;p3_1000G_AF=0.777356;p3_1000G_AFR_AF=0.6914;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=16439;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.7873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31570376;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3245,1161;ESP6500_AA_AGE=409.1+/-334.9;ESP6500_AA_GTC=1197,851,155;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=65;ESP6500_EA_AC=6532,2068;ESP6500_EA_AGE=357.8+/-330.9;ESP6500_EA_GTC=2462,1608,230;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:intron;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31347510;ESP6500_GTC=3659,2459,385;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.3276+12A>G;ESP6500_MAF=24.0465,26.3504,24.827;ESP6500_TAC=9777,3229;CLINVAR_ALLELEID=189103;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0010934,MedGen:C0220988|MedGen:C0268118,OMIM:278300,Orphanet:ORPHA93601,SNOMED_CT:124147007|MedGen:CN169374;CLINVAR_CLNDN=Xanthinuria|Deficiency_of_xanthine_oxidase|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.31347510T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24418;CLINVAR_GENEINFO=XDH:7498;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1366813	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,54:54:99:1|1:31347501_G_T:1760,162,0
chr2	31347760	rs4952083	C	T	1602.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.33;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4952083;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|28/35|c.3148-110G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3990;p3_1000G_AF=0.796725;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=20523;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.7873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31570626;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,37:37:99:1|1:31347760_C_T:1631,111,0
chr2	31347765	rs4952084	A	G	1568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4952084;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|28/35|c.3148-115T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3992;p3_1000G_AF=0.797125;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=20728;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31570631;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,34:34:99:1|1:31347760_C_T:1597,108,0
chr2	31348375	rs13415401;255969	G	C	1837.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.29;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13415401;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|27/35|c.3052-12C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3848;p3_1000G_AF=0.768371;p3_1000G_AFR_AF=0.6717;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=18700;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.7863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31571241;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3131,1275;ESP6500_AA_AGE=701.0+/-406.7;ESP6500_AA_GTC=1112,907,184;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=44;ESP6500_EA_AC=6532,2068;ESP6500_EA_AGE=718.3+/-406.2;ESP6500_EA_GTC=2461,1610,229;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:intron;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31348375;ESP6500_GTC=3573,2517,413;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.3052-12C>G;ESP6500_MAF=24.0465,28.9378,25.7035;ESP6500_TAC=9663,3343;CLINVAR_ALLELEID=250726;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0010934,MedGen:C0220988|MedGen:CN169374;CLINVAR_CLNDN=Xanthinuria|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.31348375G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24427;CLINVAR_GENEINFO=XDH:7498;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13415401	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1866,150,0
chr2	31348920	rs1884725;255968	A	G	982.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1884725;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|XDH|XDH|transcript|NM_000379.3|protein_coding|27/36|c.3030T>C|p.Phe1010Phe|3109/5717|3030/4002|1010/1333||;p3_1000G_AA=G|||;p3_1000G_AC=4006;p3_1000G_AF=0.79992;p3_1000G_AFR_AF=0.7655;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=21625;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.7903;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31571786;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8374;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3517,889;ESP6500_AA_AGE=344.4+/-308.1;ESP6500_AA_GTC=1404,709,90;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=4.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=100;ESP6500_EA_AC=6536,2064;ESP6500_EA_AGE=357.1+/-330.6;ESP6500_EA_GTC=2464,1608,228;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:coding-synonymous;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31348920;ESP6500_GTC=3868,2317,318;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.3030T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000379.3:p.(F1010);ESP6500_MAF=24.0,20.177,22.7049;ESP6500_TAC=10053,2953;CLINVAR_ALLELEID=250727;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0010934,MedGen:C0220988|MedGen:CN169374;CLINVAR_CLNDN=Xanthinuria|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.31348920A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24432;CLINVAR_GENEINFO=XDH:7498;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1884725	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1011,96,0
chr2	31349616	rs11408029	T	TG	386.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.75;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11408029;dbSNPBuildID=127;ANN=TG|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|26/35|c.2969+69dupC||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:39:424,39,0
chr2	31364369	rs1018505	G	A	345.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1018505;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|23/35|c.2545-125C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3857;p3_1000G_AF=0.770168;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=19951;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31587235;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:374,30,0
chr2	31365422	rs2365842	T	A	2513.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.93;SOR=0.935;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2365842;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|23/35|c.2544+35A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3316;p3_1000G_AF=0.662141;p3_1000G_AFR_AF=0.4274;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=19191;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.7416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31588288;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2029,2377;ESP6500_AA_AGE=611.9+/-391.9;ESP6500_AA_GTC=468,1093,642;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=6195,2405;ESP6500_EA_AGE=398.7+/-346.2;ESP6500_EA_GTC=2214,1767,319;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:intron;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31365422;ESP6500_GTC=2682,2860,961;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.2544+35A>T;ESP6500_MAF=27.9651,46.0508,36.7676;ESP6500_TAC=8224,4782	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2542,270,0
chr2	31365571	rs17011353	C	T	682.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.478;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.642;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=-0.584;SOR=0.379;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17011353;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|22/35|c.2457-27G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=287;p3_1000G_AF=0.0573083;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=17820;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31588437;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=37,4369;ESP6500_AA_AGE=41.6+/-74.8;ESP6500_AA_GTC=0,37,2166;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=58;ESP6500_EA_AC=222,8378;ESP6500_EA_AGE=93.3+/-155.3;ESP6500_EA_GTC=3,216,4081;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:intron;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31365571;ESP6500_GTC=3,253,6247;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.2457-27G>A;ESP6500_MAF=2.5814,0.8398,1.9914;ESP6500_TAC=259,12747	GT:AD:DP:GQ:PL	0/1:13,24:37:99:711,0,371
chr2	31366981	rs2295475;255967	G	A	466.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.394;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.836;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2295475;dbSNPBuildID=100;ANN=A|structural_interaction_variant|HIGH|XDH|XDH|interaction|2E1Q:A_737-A_843:NM_000379.3|protein_coding|21/36|c.2211C>T||||||,A|structural_interaction_variant|HIGH|XDH|XDH|interaction|2E1Q:B_737-B_843:NM_000379.3|protein_coding|21/36|c.2211C>T||||||,A|structural_interaction_variant|HIGH|XDH|XDH|interaction|2E1Q:C_737-C_843:NM_000379.3|protein_coding|21/36|c.2211C>T||||||,A|structural_interaction_variant|HIGH|XDH|XDH|interaction|2E1Q:D_737-D_843:NM_000379.3|protein_coding|21/36|c.2211C>T||||||,A|synonymous_variant|LOW|XDH|XDH|transcript|NM_000379.3|protein_coding|21/36|c.2211C>T|p.Ile737Ile|2290/5717|2211/4002|737/1333||;p3_1000G_AA=G|||;p3_1000G_AC=1353;p3_1000G_AF=0.270168;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=19611;p3_1000G_EAS_AF=0.3343;p3_1000G_EUR_AF=0.3032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31589847;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=409,3997;ESP6500_AA_AGE=200.8+/-224.0;ESP6500_AA_GTC=28,353,1822;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=-11.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=110;ESP6500_EA_AC=2628,5972;ESP6500_EA_AGE=425.1+/-354.9;ESP6500_EA_GTC=397,1834,2069;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:coding-synonymous;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31366981;ESP6500_GTC=425,2187,3891;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.2211C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000379.3:p.(I737);ESP6500_MAF=30.5581,9.2828,23.3508;ESP6500_TAC=3037,9969;CLINVAR_AF_ESP=0.2335;CLINVAR_AF_EXAC=0.30369;CLINVAR_AF_TGP=0.2702;CLINVAR_ALLELEID=250728;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0010934,MedGen:C0220988|MedGen:CN169374;CLINVAR_CLNDN=Xanthinuria|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.31366981G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24437;CLINVAR_GENEINFO=XDH:7498;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2295475	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,21:41:99:0|1:31366981_G_A:495,0,531
chr2	31367919	rs761926	C	G	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.267;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs761926;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|20/35|c.2197+42G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1368;p3_1000G_AF=0.273163;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=20671;p3_1000G_EAS_AF=0.3423;p3_1000G_EUR_AF=0.3022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31590785;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=415,3991;ESP6500_AA_AGE=202.5+/-225.2;ESP6500_AA_GTC=28,359,1816;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=128;ESP6500_EA_AC=2560,6040;ESP6500_EA_AGE=416.9+/-352.3;ESP6500_EA_GTC=387,1786,2127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:intron;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31367919;ESP6500_GTC=415,2145,3943;ESP6500_GTS=GG,GC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23251661;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.2197+42G>C;ESP6500_MAF=29.7674,9.419,22.8741;ESP6500_TAC=2975,10031	GT:AD:DP:GQ:PL	0/1:16,12:28:99:349,0,472
chr2	31370259	rs10181969	T	C	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=0.967;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10181969;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|18/35|c.1980+96A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=548;p3_1000G_AF=0.109425;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=19484;p3_1000G_EAS_AF=0.1607;p3_1000G_EUR_AF=0.0408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31593125;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:55:153,0,55
chr2	31373890	rs201792967	C	T	247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.959;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.684;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201792967;dbSNPBuildID=137;ANN=T|structural_interaction_variant|HIGH|XDH|XDH|interaction|2E1Q:B_161-B_557:NM_000379.3|protein_coding|16/36|c.1669G>A||||||,T|missense_variant|MODERATE|XDH|XDH|transcript|NM_000379.3|protein_coding|16/36|c.1669G>A|p.Asp557Asn|1748/5717|1669/4002|557/1333||;p3_1000G_AA=c|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18761;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31596756;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,11:18:99:276,0,203
chr2	31375619	rs2070294	T	C	264.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2070294;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|14/35|c.1428-65A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1585;p3_1000G_AF=0.316494;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=16314;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31598485;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:293,24,0
chr2	31377280	rs10187719	T	C	916.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10187719;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|XDH|XDH|transcript|NM_000379.3|protein_coding|13/35|c.1243-43A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3760;p3_1000G_AF=0.750799;p3_1000G_AFR_AF=0.7882;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=19505;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.7326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31600146;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7239;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3446,960;ESP6500_AA_AGE=351.8+/-311.4;ESP6500_AA_GTC=1336,774,93;ESP6500_CDS_SIZES=NM_000379.3:4002;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=38;ESP6500_EA_AC=6148,2452;ESP6500_EA_AGE=400.9+/-346.9;ESP6500_EA_GTC=2175,1798,327;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000379.3:intron;ESP6500_GL=XDH;ESP6500_GRCh38_POSITION=2:31377280;ESP6500_GTC=3511,2572,420;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000379.3:c.1243-43A>G;ESP6500_MAF=28.5116,21.7885,26.234;ESP6500_TAC=9594,3412	GT:AD:DP:GQ:PL	1/1:0,26:26:78:945,78,0
chr2	32087631	rs7561519	T	C	278.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7561519;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|2/16|c.502+53T>C||||||,C|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|2/15|c.502+53T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2473;p3_1000G_AF=0.49381;p3_1000G_AFR_AF=0.3994;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=12980;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.4036;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32312700;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=596,788;ESP6500_AA_GTC=128,340,224;ESP6500_CDS_SIZES=NM_199436.1:1755,NM_014946.3:1851;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=103;ESP6500_EA_AC=1316,1866;ESP6500_EA_GTC=278,760,553;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199436.1:intron,NM_014946.3:intron;ESP6500_GL=SPAST;ESP6500_GRCh38_POSITION=2:32087631;ESP6500_GTC=406,1100,777;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_199436.1:c.502+53T>C,NM_014946.3:c.502+53T>C;ESP6500_MAF=41.3576,43.0636,41.8747;ESP6500_TAC=1912,2654	GT:AD:DP:GQ:PL	1/1:0,9:9:27:307,27,0
chr2	32099003	rs7566162	T	C	185.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7566162;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|4/16|c.682+112T>C||||||,C|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|3/15|c.586+9398T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=17027;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32324072;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:214,15,0
chr2	32116330	rs12617289	A	G	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12617289;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|7/16|c.1098+118A>G||||||,G|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|6/15|c.1002+118A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2469;p3_1000G_AF=0.493011;p3_1000G_AFR_AF=0.4009;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=17748;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32341399;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:32116330_A_G:405,27,0
chr2	32116339	rs12617290	A	G	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.66;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12617290;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|7/16|c.1098+127A>G||||||,G|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|6/15|c.1002+127A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2387;p3_1000G_AF=0.476637;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=17869;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32341408;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:32116330_A_G:405,27,0
chr2	32128247	rs2294176	G	A	104.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.41;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2294176;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|8/16|c.1174-161G>A||||||,A|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|7/15|c.1078-161G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2281;p3_1000G_AF=0.455471;p3_1000G_AFR_AF=0.3389;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=14901;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32353316;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:9:1|1:32128247_G_A:132,9,0
chr2	32128255	rs2294178	A	C	104.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2294178;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|8/16|c.1174-153A>C||||||,C|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|7/15|c.1078-153A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1713;p3_1000G_AF=0.342053;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=15059;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32353324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:32128247_G_A:132,9,0
chr2	32136413	rs11392886	T	TC	404.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.5;SOR=4.804;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11392886;dbSNPBuildID=126;ANN=TC|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|9/16|c.1246-150_1246-149insC||||||,TC|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|8/15|c.1150-150_1150-149insC||||||;p3_1000G_AA=C|-|C|deletion;p3_1000G_AC=2317;p3_1000G_AF=0.46266;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=17213;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32361482;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:33:442,33,0
chr2	32137010	rs10627985	G	GTATA	502.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.19;SOR=1.445;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10627985;dbSNPBuildID=135;ANN=GTATA|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|11/16|c.1413+44_1413+47dupATAT||||||INFO_REALIGN_3_PRIME,GTATA|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|10/15|c.1317+44_1317+47dupATAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2366;p3_1000G_AF=0.472444;p3_1000G_AFR_AF=0.3986;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=16982;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32362079;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=INDEL;ESP6500_AA_AC=1677,2541;ESP6500_AA_GTC=377,923,809;ESP6500_CDS_SIZES=NM_199436.1:1755,NM_014946.3:1851;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=48;ESP6500_EA_AC=2771,5459;ESP6500_EA_GTC=477,1817,1821;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199436.1:intron,NM_014946.3:intron;ESP6500_GL=SPAST;ESP6500_GRCh38_POSITION=2:32137010;ESP6500_GTC=854,2740,2630;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_199436.1:c.1317+42_1317+43insTATA,NM_014946.3:c.1413+42_1413+43insTATA;ESP6500_MAF=33.6695,39.7582,35.7326;ESP6500_TAC=4448,8000	GT:AD:DP:GQ:PL	1/1:0,12:12:36:540,36,0
chr2	32144832	rs2365556	T	C	264.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2365556;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_014946.3|protein_coding|14/16|c.1617-105T>C||||||,C|intron_variant|MODIFIER|SPAST|SPAST|transcript|NM_199436.1|protein_coding|13/15|c.1521-105T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4873;p3_1000G_AF=0.973043;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=15606;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32369901;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:293,24,0
chr2	32236424	rs55638726	T	TC	326.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=3.056;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs55638726;dbSNPBuildID=129;ANN=TC|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_001199138.1|protein_coding|6/8|c.2522-86_2522-85insG||||||,TC|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_001199139.1|protein_coding|6/8|c.2522-86_2522-85insG||||||,TC|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_001302504.1|protein_coding|5/7|c.527-86_527-85insG||||||,TC|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_021209.4|protein_coding|6/8|c.2522-86_2522-85insG||||||	GT:AD:DP:GQ:PL	1/1:0,9:9:27:364,27,0
chr2	32240960	rs212721	A	G	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.58;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs212721;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_001199138.1|protein_coding|5/8|c.2350+73T>C||||||,G|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_001199139.1|protein_coding|5/8|c.2350+73T>C||||||,G|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_001302504.1|protein_coding|4/7|c.355+73T>C||||||,G|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_021209.4|protein_coding|5/8|c.2350+73T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3002;p3_1000G_AF=0.599441;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=18098;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32466029;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,17:37:99:430,0,479
chr2	32250040	rs455060;403236	G	A	1003.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.592;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0.907;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.084;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs455060;dbSNPBuildID=80;ANN=A|synonymous_variant|LOW|NLRC4|NLRC4|transcript|NM_001199138.1|protein_coding|4/9|c.1824C>T|p.Ala608Ala|2085/3360|1824/3075|608/1024||,A|synonymous_variant|LOW|NLRC4|NLRC4|transcript|NM_001199139.1|protein_coding|4/9|c.1824C>T|p.Ala608Ala|1968/3243|1824/3075|608/1024||,A|synonymous_variant|LOW|NLRC4|NLRC4|transcript|NM_021209.4|protein_coding|4/9|c.1824C>T|p.Ala608Ala|2099/3374|1824/3075|608/1024||,A|intron_variant|MODIFIER|NLRC4|NLRC4|transcript|NM_001302504.1|protein_coding|3/7|c.262+2379C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2966;p3_1000G_AF=0.592252;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=19989;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.6173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32475109;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2993,1413;ESP6500_AA_AGE=462.6+/-353.3;ESP6500_AA_GTC=1022,949,232;ESP6500_CDS_SIZES=NM_021209.4:3075,NM_001199139.1:3075,NM_001199138.1:3075;ESP6500_CG=-5.5;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=132;ESP6500_EA_AC=5197,3403;ESP6500_EA_AGE=502.2+/-375.6;ESP6500_EA_GTC=1574,2049,677;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021209.4:coding-synonymous,NM_001199139.1:coding-synonymous,NM_001199138.1:coding-synonymous;ESP6500_GL=NLRC4;ESP6500_GRCh38_POSITION=2:32250040;ESP6500_GTC=2596,2998,909;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021209.4:c.1824C>T,NM_001199139.1:c.1824C>T,NM_001199138.1:c.1824C>T;ESP6500_HGVS_PROTEIN_VAR=NM_021209.4:p.(A608),NM_001199139.1:p.(A608),NM_001199138.1:p.(A608);ESP6500_MAF=39.5698,32.0699,37.0291;ESP6500_TAC=8190,4816;CLINVAR_ALLELEID=389512;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.32250040G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NLRC4:58484;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=455060	GT:AD:DP:GQ:PL	0/1:33,35:68:99:1032,0,833
chr2	32301390	rs140787278	T	C	892.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.427;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140787278;dbSNPBuildID=134;ANN=C|synonymous_variant|LOW|YIPF4|YIPF4|transcript|NM_032312.3|protein_coding|5/6|c.492T>C|p.Tyr164Tyr|759/1965|492/735|164/244||;p3_1000G_AA=T|||;p3_1000G_AC=29;p3_1000G_AF=0.00579073;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16997;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32526459;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_032312.3:735;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=132;ESP6500_EA_AC=1,8597;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032312.3:coding-synonymous;ESP6500_GL=YIPF4;ESP6500_GRCh38_POSITION=2:32301390;ESP6500_GTC=0,1,6501;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032312.3:c.492T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032312.3:p.(Y164);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_TAC=1,13003	GT:AD:DP:GQ:PL	0/1:35,34:69:99:921,0,817
chr2	32431181	rs1377022164	CTTTTTTTTTTTTTTTTTTTTT	C	439.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.83;ReadPosRankSum=0.805;SOR=1.473;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|12/73|c.3248+103_3248+123delTTTTTTTTTTTTTTTTTTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,12:13:99:477,0,148
chr2	32441990	rs55734616	C	A	421.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.72;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55734616;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|17/73|c.3945-75C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19308;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32667058;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:32441990_C_A:450,30,0
chr2	32441993	rs60955793	T	A	421.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.84;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60955793;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|17/73|c.3945-72T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19363;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32667061;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:30:1|1:32441990_C_A:450,30,0
chr2	32442494	rs2276592	A	G	354.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.31;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276592;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|19/73|c.4238+39A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1545;p3_1000G_AF=0.308506;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=19490;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.2296;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32667562;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=472,3934;ESP6500_AA_GTC=29,414,1760;ESP6500_CDS_SIZES=NM_016252.3:14574;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=2105,6495;ESP6500_EA_GTC=263,1579,2458;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016252.3:intron;ESP6500_GL=BIRC6;ESP6500_GRCh38_POSITION=2:32442494;ESP6500_GTC=292,1993,4218;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016252.3:c.4238+39A>G;ESP6500_MAF=24.4767,10.7127,19.8139;ESP6500_TAC=2577,10429	GT:AD:DP:GQ:PL	1/1:0,9:9:27:383,27,0
chr2	32481511	rs9646977	T	A	246.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9646977;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|38/73|c.7542+58T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17487;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32706579;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:275,24,0
chr2	32524813	rs2710609	C	T	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710609;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|57/73|c.11624-75C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16406;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32749880;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:32524813_C_T:180,12,0
chr2	32524823	rs2710610	C	T	196.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710610;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|57/73|c.11624-65C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16432;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32749890;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:32524813_C_T:225,15,0
chr2	32524826	rs2710611	A	T	196.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.32;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710611;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|57/73|c.11624-62A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16298;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32749893;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:32524813_C_T:225,15,0
chr2	32524836	rs2710612	T	C	259.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.62;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710612;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|BIRC6|BIRC6|transcript|NM_016252.3|protein_coding|57/73|c.11624-52T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16571;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32749903;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:32524813_C_T:288,21,0
chr2	32630548	rs2710623	A	G	701.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2710623;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|TTC27|TTC27|transcript|NM_017735.4|protein_coding|2/20|c.114A>G|p.Leu38Leu|387/2918|114/2532|38/843||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|2/20|c.-37A>G||||||,G|5_prime_UTR_variant|MODIFIER|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|2/20|c.-37A>G|||||37|,G|upstream_gene_variant|MODIFIER|MIR4765|MIR4765|transcript|NR_039922.1|pseudogene||n.-4707A>G|||||4707|;p3_1000G_AA=G|||;p3_1000G_AC=4947;p3_1000G_AF=0.987819;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18264;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32855615;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4259,143;ESP6500_AA_AGE=97.6+/-136.3;ESP6500_AA_GTC=2059,141,1;ESP6500_CDS_SIZES=NM_017735.4:2532,NM_001193509.1:2382;ESP6500_CG=0.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017735.4:coding-synonymous,NM_001193509.1:utr-5;ESP6500_GL=TTC27;ESP6500_GRCh38_POSITION=2:32630548;ESP6500_GTC=6356,144,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017735.4:c.114A>G,NM_001193509.1:c.-37A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017735.4:p.(L38),.;ESP6500_MAF=0.0349,3.2485,1.1229;ESP6500_TAC=12856,146	GT:AD:DP:GQ:PL	1/1:0,22:22:66:730,66,0
chr2	32640454	rs1031261	G	C	923.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1031261;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_017735.4|protein_coding|4/19|c.537+44G>C||||||,C|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|4/19|c.387+44G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1003;p3_1000G_AF=0.20028;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=18558;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.1223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32865521;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=503,3903;ESP6500_AA_AGE=232.3+/-245.9;ESP6500_AA_GTC=23,457,1723;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22745009;ESP6500_CDS_SIZES=NM_017735.4:2532,NM_001193509.1:2382;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=64;ESP6500_EA_AC=1053,7547;ESP6500_EA_AGE=220.5+/-258.2;ESP6500_EA_GTC=53,947,3300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017735.4:intron,NM_001193509.1:intron;ESP6500_GL=TTC27;ESP6500_GRCh38_POSITION=2:32640454;ESP6500_GTC=76,1404,5023;ESP6500_GTS=CC,CG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22745009;ESP6500_HGVS_CDNA_VAR=NM_017735.4:c.537+44G>C,NM_001193509.1:c.387+44G>C;ESP6500_MAF=12.2442,11.4163,11.9637;ESP6500_TAC=1556,11450	GT:AD:DP:GQ:PL	1/1:0,28:28:84:952,84,0
chr2	32702796	rs2273659	G	A	1388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=1.659;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2273659;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_017735.4|protein_coding|9/19|c.1120-11G>A||||||,A|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|9/19|c.970-11G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1038;p3_1000G_AF=0.207268;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18291;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.1938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32927863;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=315,4091;ESP6500_AA_AGE=168.0+/-198.9;ESP6500_AA_GTC=10,295,1898;ESP6500_CDS_SIZES=NM_017735.4:2532,NM_001193509.1:2382;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=132;ESP6500_EA_AC=1809,6791;ESP6500_EA_AGE=325.4+/-316.9;ESP6500_EA_GTC=186,1437,2677;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017735.4:intron,NM_001193509.1:intron;ESP6500_GL=TTC27;ESP6500_GRCh38_POSITION=2:32702796;ESP6500_GTC=196,1732,4575;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017735.4:c.1120-11G>A,NM_001193509.1:c.970-11G>A;ESP6500_MAF=21.0349,7.1493,16.3309;ESP6500_TAC=2124,10882	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1417,141,0
chr2	32733771	rs3830967	CTT	C	457.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.7;SOR=1.802;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3830967;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_017735.4|protein_coding|10/19|c.1234-56_1234-55delTT||||||,C|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|10/19|c.1084-56_1084-55delTT||||||;p3_1000G_AC=1022;p3_1000G_AF=0.204073;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=15154;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32958838;p3_1000G_GRCH37_REF=CTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:495,33,0
chr2	32734008	rs3818266	G	A	170.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3818266;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_017735.4|protein_coding|11/19|c.1329+85G>A||||||,A|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|11/19|c.1179+85G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1025;p3_1000G_AF=0.204673;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=14564;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32959075;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:199,18,0
chr2	32736678	rs10200333	T	A	595.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10200333;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_017735.4|protein_coding|11/19|c.1330-16T>A||||||,A|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|11/19|c.1180-16T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4959;p3_1000G_AF=0.990216;p3_1000G_AFR_AF=0.9644;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=15509;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32961745;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4284,122;ESP6500_AA_AGE=91.1+/-129.8;ESP6500_AA_GTC=2083,118,2;ESP6500_CDS_SIZES=NM_017735.4:2532,NM_001193509.1:2382;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=60;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017735.4:intron,NM_001193509.1:intron;ESP6500_GL=TTC27;ESP6500_GRCh38_POSITION=2:32736678;ESP6500_GTC=6380,121,2;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_017735.4:c.1330-16T>A,NM_001193509.1:c.1180-16T>A;ESP6500_MAF=0.0349,2.769,0.9611;ESP6500_TAC=12881,125	GT:AD:DP:GQ:PL	1/1:0,21:21:63:624,63,0
chr2	32811257	rs3731578	G	A	539.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731578;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_017735.4|protein_coding|17/19|c.2196+36G>A||||||,A|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|17/19|c.2046+36G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2264;p3_1000G_AF=0.452077;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=22130;p3_1000G_EAS_AF=0.3532;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33036324;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2055,2351;ESP6500_AA_GTC=479,1097,627;ESP6500_CDS_SIZES=NM_017735.4:2532,NM_001193509.1:2382;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=51;ESP6500_EA_AC=3321,5279;ESP6500_EA_GTC=655,2011,1634;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017735.4:intron,NM_001193509.1:intron;ESP6500_GL=TTC27;ESP6500_GRCh38_POSITION=2:32811257;ESP6500_GTC=1134,3108,2261;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017735.4:c.2196+36G>A,NM_001193509.1:c.2046+36G>A;ESP6500_MAF=38.6163,46.6409,41.3348;ESP6500_TAC=5376,7630	GT:AD:DP:GQ:PL	1/1:0,16:16:48:568,48,0
chr2	32820800	rs138344718;rs77795521	G	GT	773.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs138344718,rs77795521;dbSNPBuildID=134,131;ANN=GT|upstream_gene_variant|MODIFIER|LINC00486|LINC00486|transcript|NR_027098.1|pseudogene||n.-4643_-4642insT|||||4642|,GT|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_017735.4|protein_coding|19/19|c.2410-10dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TTC27|TTC27|transcript|NM_001193509.1|protein_coding|19/19|c.2260-10dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTT|TTTTTT|TTTTTTT|insertion;p3_1000G_AC=995;p3_1000G_AF=0.198682;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=15336;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33045867;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,26:26:78:811,78,0
chr2	32947612	rs143551592	G	A	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.543;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.591;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143551592;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|1/34|c.288G>A|p.Gln96Gln|311/6152|288/5166|96/1721||,A|downstream_gene_variant|MODIFIER|LOC100271832|LOC100271832|transcript|NR_027097.1|pseudogene||n.*1477G>A|||||1477|;p3_1000G_AA=G|||;p3_1000G_AC=728;p3_1000G_AF=0.145367;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=5314;p3_1000G_EAS_AF=0.4206;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33172679;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:165,0,296
chr2	32948983	rs13029145	C	T	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.607;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=1.1;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13029145;dbSNPBuildID=121;ANN=T|downstream_gene_variant|MODIFIER|LOC100271832|LOC100271832|transcript|NR_027097.1|pseudogene||n.*2848C>T|||||2848|,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|2/33|c.565+38C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=749;p3_1000G_AF=0.149561;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=17923;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33174050;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=91,4315;ESP6500_AA_AGE=73.6+/-111.7;ESP6500_AA_GTC=1,89,2113;ESP6500_CDS_SIZES=NM_206943.2:5166;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=67;ESP6500_EA_AC=522,8078;ESP6500_EA_AGE=147.4+/-202.8;ESP6500_EA_GTC=14,494,3792;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206943.2:intron;ESP6500_GL=LTBP1;ESP6500_GRCh38_POSITION=2:32948983;ESP6500_GTC=15,583,5905;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206943.2:c.565+38C>T;ESP6500_MAF=6.0698,2.0654,4.7132;ESP6500_TAC=613,12393	GT:AD:DP:GQ:PL	0/1:12,9:21:99:244,0,385
chr2	33110641	rs140100437	T	C	640.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.904;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.506;SOR=0.832;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140100437;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|4/34|c.923T>C|p.Val308Ala|946/6152|923/5166|308/1721||;p3_1000G_AA=T|||;p3_1000G_AC=25;p3_1000G_AF=0.00499201;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19906;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33335708;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,26:57:99:669,0,791
chr2	33110780	rs218226	C	T	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.522;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.012;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.496;SOR=1.333;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs218226;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|4/33|c.1033+29C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1965;p3_1000G_AF=0.392372;p3_1000G_AFR_AF=0.2837;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=21306;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.4533;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33335847;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1320,3086;ESP6500_AA_AGE=690.6+/-405.3;ESP6500_AA_GTC=190,940,1073;ESP6500_CDS_SIZES=NM_206943.2:5166;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=75;ESP6500_EA_AC=3617,4983;ESP6500_EA_AGE=618.8+/-396.8;ESP6500_EA_GTC=750,2117,1433;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206943.2:intron;ESP6500_GL=LTBP1;ESP6500_GRCh38_POSITION=2:33110780;ESP6500_GTC=940,3057,2506;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_206943.2:c.1033+29C>T;ESP6500_MAF=42.0581,29.9591,37.9594;ESP6500_TAC=4937,8069	GT:AD:DP:GQ:PL	0/1:17,18:35:99:540,0,462
chr2	33188942	rs3922572	T	A	203.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.47;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3922572;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|7/33|c.1701+91T>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|3/29|c.723+91T>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|3/28|c.723+91T>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|3/29|c.723+91T>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|3/28|c.723+91T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4812;p3_1000G_AF=0.960863;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=19714;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33414009;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:232,24,0
chr2	33252897	rs3731575	C	T	975.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=3.477;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731575;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|11/33|c.2167+53C>T||||||,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|7/29|c.1189+53C>T||||||,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|7/28|c.1189+53C>T||||||,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|7/29|c.1189+53C>T||||||,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|7/28|c.1189+53C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=878;p3_1000G_AF=0.175319;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=19733;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.2465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33477964;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1004,93,0
chr2	33263352	rs12468099	G	A	1275.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12468099;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|15/34|c.2577G>A|p.Thr859Thr|2600/6152|2577/5166|859/1721||,A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|11/30|c.1599G>A|p.Thr533Thr|1740/5292|1599/4188|533/1395||,A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|11/29|c.1599G>A|p.Thr533Thr|1740/5166|1599/4062|533/1353||,A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|11/30|c.1440G>A|p.Thr480Thr|1581/5133|1440/4029|480/1342||,A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|11/29|c.1440G>A|p.Thr480Thr|1581/5007|1440/3903|480/1300||;p3_1000G_AA=G|||;p3_1000G_AC=839;p3_1000G_AF=0.167532;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=17578;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.2863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33488419;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=277,4129;ESP6500_AA_AGE=153.7+/-187.2;ESP6500_AA_GTC=8,261,1934;ESP6500_CDS_SIZES=NM_206943.2:5166,NM_001166266.1:3903,NM_001166265.1:4029,NM_001166264.1:4062,NM_000627.3:4188;ESP6500_CG=-4.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=139;ESP6500_EA_AC=2489,6111;ESP6500_EA_AGE=409.6+/-349.9;ESP6500_EA_GTC=373,1743,2184;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206943.2:coding-synonymous,NM_001166266.1:coding-synonymous,NM_001166265.1:coding-synonymous,NM_001166264.1:coding-synonymous,NM_000627.3:coding-synonymous;ESP6500_GL=LTBP1;ESP6500_GRCh38_POSITION=2:33263352;ESP6500_GTC=381,2004,4118;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_206943.2:c.2577G>A,NM_001166266.1:c.1440G>A,NM_001166265.1:c.1440G>A,NM_001166264.1:c.1599G>A,NM_000627.3:c.1599G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206943.2:p.(T859),NM_001166266.1:p.(T480),NM_001166265.1:p.(T480),NM_001166264.1:p.(T533),NM_000627.3:p.(T533);ESP6500_MAF=28.9419,6.2869,21.2671;ESP6500_TAC=2766,10240	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1304,132,0
chr2	33275781	rs3816479	A	G	1768.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.37;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816479;dbSNPBuildID=107;ANN=G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_6|NM_206943.2|protein_coding|17/33|c.2870-20A>G||||||,G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_6|NM_000627.3|protein_coding|13/29|c.1892-20A>G||||||,G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_6|NM_001166265.1|protein_coding|13/29|c.1733-20A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|17/33|c.2870-20A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|13/29|c.1892-20A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|13/28|c.1892-20A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|13/29|c.1733-20A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|13/28|c.1733-20A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=23307;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.33;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33500848;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1871;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=297,4109;ESP6500_AA_AGE=160.7+/-193.0;ESP6500_AA_GTC=7,283,1913;ESP6500_CDS_SIZES=NM_206943.2:5166,NM_001166266.1:3903,NM_001166265.1:4029,NM_001166264.1:4062,NM_000627.3:4188;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=124;ESP6500_EA_AC=2806,5794;ESP6500_EA_AGE=444.5+/-360.7;ESP6500_EA_GTC=479,1848,1973;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206943.2:intron,NM_001166266.1:intron,NM_001166265.1:intron,NM_001166264.1:intron,NM_000627.3:intron;ESP6500_GL=LTBP1;ESP6500_GRCh38_POSITION=2:33275781;ESP6500_GTC=486,2131,3886;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206943.2:c.2870-20A>G,NM_001166266.1:c.1733-20A>G,NM_001166265.1:c.1733-20A>G,NM_001166264.1:c.1892-20A>G,NM_000627.3:c.1892-20A>G;ESP6500_MAF=32.6279,6.7408,23.8582;ESP6500_TAC=3103,9903	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,53:53:99:1|1:33275765_A_G:1797,159,0
chr2	33300340	rs2123769	A	G	260.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2123769;dbSNPBuildID=96;ANN=G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_9|NM_206943.2|protein_coding|20/33|c.3236-111A>G||||||,G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_9|NM_000627.3|protein_coding|16/29|c.2258-111A>G||||||,G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_9|NM_001166265.1|protein_coding|16/29|c.2099-111A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|20/33|c.3236-111A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|16/29|c.2258-111A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|16/28|c.2258-111A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|16/29|c.2099-111A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|16/28|c.2099-111A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=885;p3_1000G_AF=0.176717;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=19931;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.3211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33525407;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:289,24,0
chr2	33315071	rs2276591	G	A	277.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276591;dbSNPBuildID=100;ANN=A|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_12|NM_206943.2|protein_coding|23/33|c.3605-73G>A||||||,A|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_12|NM_000627.3|protein_coding|19/29|c.2627-73G>A||||||,A|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_12|NM_001166265.1|protein_coding|19/29|c.2468-73G>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|23/33|c.3605-73G>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|19/29|c.2627-73G>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|19/28|c.2627-73G>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|19/29|c.2468-73G>A||||||,A|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|19/28|c.2468-73G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2756;p3_1000G_AF=0.550319;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=21327;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33540138;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:306,27,0
chr2	33315181	rs1058840	G	A	593.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.99;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1058840;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|24/34|c.3642G>A|p.Pro1214Pro|3665/6152|3642/5166|1214/1721||,A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|20/30|c.2664G>A|p.Pro888Pro|2805/5292|2664/4188|888/1395||,A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|20/29|c.2664G>A|p.Pro888Pro|2805/5166|2664/4062|888/1353||,A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|20/30|c.2505G>A|p.Pro835Pro|2646/5133|2505/4029|835/1342||,A|synonymous_variant|LOW|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|20/29|c.2505G>A|p.Pro835Pro|2646/5007|2505/3903|835/1300||;p3_1000G_AA=a|||;p3_1000G_AC=2305;p3_1000G_AF=0.460264;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=19677;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.6481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33540248;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1629,2777;ESP6500_AA_AGE=661.1+/-400.8;ESP6500_AA_GTC=306,1017,880;ESP6500_CDS_SIZES=NM_206943.2:5166,NM_001166266.1:3903,NM_001166265.1:4029,NM_001166264.1:4062,NM_000627.3:4188;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=100;ESP6500_EA_AC=5630,2970;ESP6500_EA_AGE=461.2+/-365.4;ESP6500_EA_GTC=1867,1896,537;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206943.2:coding-synonymous,NM_001166266.1:coding-synonymous,NM_001166265.1:coding-synonymous,NM_001166264.1:coding-synonymous,NM_000627.3:coding-synonymous;ESP6500_GL=LTBP1;ESP6500_GRCh38_POSITION=2:33315181;ESP6500_GTC=2173,2913,1417;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_206943.2:c.3642G>A,NM_001166266.1:c.2505G>A,NM_001166265.1:c.2505G>A,NM_001166264.1:c.2664G>A,NM_000627.3:c.2664G>A;ESP6500_HGVS_PROTEIN_VAR=NM_206943.2:p.(P1214),NM_001166266.1:p.(P835),NM_001166265.1:p.(P835),NM_001166264.1:p.(P888),NM_000627.3:p.(P888);ESP6500_MAF=34.5349,36.9723,44.1873;ESP6500_TAC=7259,5747	GT:AD:DP:GQ:PL	1/1:0,22:22:66:622,66,0
chr2	33360729	rs4422143	T	C	2292.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4422143;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|27/34|c.4133T>C|p.Val1378Ala|4156/6152|4133/5166|1378/1721||,C|missense_variant|MODERATE|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|23/30|c.3155T>C|p.Val1052Ala|3296/5292|3155/4188|1052/1395||,C|missense_variant|MODERATE|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|22/29|c.3029T>C|p.Val1010Ala|3170/5166|3029/4062|1010/1353||,C|missense_variant|MODERATE|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|23/30|c.2996T>C|p.Val999Ala|3137/5133|2996/4029|999/1342||,C|missense_variant|MODERATE|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|22/29|c.2870T>C|p.Val957Ala|3011/5007|2870/3903|957/1300||,C|sequence_feature|LOW|LTBP1|LTBP1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_206943.2|protein_coding|27/34|c.4133T>C||||||,C|sequence_feature|LOW|LTBP1|LTBP1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_000627.3|protein_coding|23/30|c.3155T>C||||||,C|sequence_feature|LOW|LTBP1|LTBP1|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001166265.1|protein_coding|23/30|c.2996T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21019;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33585796;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4405,1;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=2202,1,0;ESP6500_CDS_SIZES=NM_206943.2:5166,NM_001166266.1:3903,NM_001166265.1:4029,NM_001166264.1:4062,NM_000627.3:4188;ESP6500_CG=4.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=107;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206943.2:missense,NM_001166266.1:missense,NM_001166265.1:missense,NM_001166264.1:missense,NM_000627.3:missense;ESP6500_GL=LTBP1;ESP6500_GRCh38_POSITION=2:33360729;ESP6500_GS=64,64,64,64,64;ESP6500_GTC=6502,1,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_206943.2:c.4133T>C,NM_001166266.1:c.2870T>C,NM_001166265.1:c.2996T>C,NM_001166264.1:c.3029T>C,NM_000627.3:c.3155T>C;ESP6500_HGVS_PROTEIN_VAR=NM_206943.2:p.(V1378A),NM_001166266.1:p.(V957A),NM_001166265.1:p.(V999A),NM_001166264.1:p.(V1010A),NM_000627.3:p.(V1052A);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=13005,1	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2321,216,0
chr2	33361397	rs11442294	C	CT	398.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.414;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=2.062;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.27;SOR=0.26;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11442294;dbSNPBuildID=135;ANN=CT|sequence_feature|LOW|LTBP1|LTBP1|helix:combinatorial_evidence_used_in_manual_assertion|NM_206943.2|protein_coding|27/33|c.4184-32_4184-31insT||||||,CT|sequence_feature|LOW|LTBP1|LTBP1|helix:combinatorial_evidence_used_in_manual_assertion|NM_000627.3|protein_coding|23/29|c.3206-32_3206-31insT||||||,CT|sequence_feature|LOW|LTBP1|LTBP1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001166265.1|protein_coding|23/29|c.3047-32_3047-31insT||||||,CT|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|27/33|c.4184-18dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|23/29|c.3206-18dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|22/28|c.3080-18dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|23/29|c.3047-18dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|22/28|c.2921-18dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5318;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=18363;p3_1000G_EAS_AF=0.5317;p3_1000G_EUR_AF=0.5567;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33586464;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,22:27:64:436,0,64
chr2	33389120	rs642472	C	T	954.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.8;SOR=2.694;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs642472;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|31/33|c.4712-64C>T||||||,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|27/29|c.3734-64C>T||||||,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|26/28|c.3608-64C>T||||||,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|27/29|c.3575-64C>T||||||,T|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|26/28|c.3449-64C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2517;p3_1000G_AF=0.502596;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=17719;p3_1000G_EAS_AF=0.6825;p3_1000G_EUR_AF=0.5239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33614187;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:983,93,0
chr2	33397381	rs2367734	T	C	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.52;ReadPosRankSum=-1.383;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2367734;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_206943.2|protein_coding|33/33|c.4984+99T>C||||||,C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_000627.3|protein_coding|29/29|c.4006+99T>C||||||,C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_001166265.1|protein_coding|29/29|c.3847+99T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|33/33|c.4984+99T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|29/29|c.4006+99T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|28/28|c.3880+99T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|29/29|c.3847+99T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|28/28|c.3721+99T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3139;p3_1000G_AF=0.626797;p3_1000G_AFR_AF=0.5877;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=19156;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.5616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33622448;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:221,0,176
chr2	33397408	rs12053346	T	C	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12053346;dbSNPBuildID=120;ANN=C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_206943.2|protein_coding|33/33|c.4984+126T>C||||||,C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_000627.3|protein_coding|29/29|c.4006+126T>C||||||,C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_001166265.1|protein_coding|29/29|c.3847+126T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|33/33|c.4984+126T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|29/29|c.4006+126T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|28/28|c.3880+126T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|29/29|c.3847+126T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|28/28|c.3721+126T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2006;p3_1000G_AF=0.400559;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=19778;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.4483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33622475;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:123,0,110
chr2	33398320	rs624060	A	G	886.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.65;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=4.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=2.12;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs624060;dbSNPBuildID=83;ANN=G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_206943.2|protein_coding|33/33|c.4985-44A>G||||||,G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_000627.3|protein_coding|29/29|c.4007-44A>G||||||,G|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_001166265.1|protein_coding|29/29|c.3848-44A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|33/33|c.4985-44A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|29/29|c.4007-44A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|28/28|c.3881-44A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|29/29|c.3848-44A>G||||||,G|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|28/28|c.3722-44A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3910;p3_1000G_AF=0.780751;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=21729;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.7903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33623387;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3890,516;ESP6500_AA_GTC=1810,270,123;ESP6500_CDS_SIZES=NM_206943.2:5166,NM_001166266.1:3903,NM_001166265.1:4029,NM_001166264.1:4062,NM_000627.3:4188;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=58;ESP6500_EA_AC=6349,2251;ESP6500_EA_GTC=2655,1039,606;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206943.2:intron,NM_001166266.1:intron,NM_001166265.1:intron,NM_001166264.1:intron,NM_000627.3:intron;ESP6500_GL=LTBP1;ESP6500_GRCh38_POSITION=2:33398320;ESP6500_GTC=4465,1309,729;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_206943.2:c.4985-44A>G,NM_001166266.1:c.3722-44A>G,NM_001166265.1:c.3848-44A>G,NM_001166264.1:c.3881-44A>G,NM_000627.3:c.4007-44A>G;ESP6500_MAF=26.1744,11.7113,21.2748;ESP6500_TAC=10239,2767	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,24:52:99:0|1:33398320_A_G:915,0,1659
chr2	33398321	rs624058;rs200826188	T	C	886.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=6.644;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=2.67;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs624058;dbSNPBuildID=92;ANN=C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_206943.2|protein_coding|33/33|c.4985-43T>C||||||,C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_000627.3|protein_coding|29/29|c.4007-43T>C||||||,C|sequence_feature|LOW|LTBP1|LTBP1|domain:EGF-like_18|NM_001166265.1|protein_coding|29/29|c.3848-43T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_206943.2|protein_coding|33/33|c.4985-43T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_000627.3|protein_coding|29/29|c.4007-43T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166264.1|protein_coding|28/28|c.3881-43T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166265.1|protein_coding|29/29|c.3848-43T>C||||||,C|intron_variant|MODIFIER|LTBP1|LTBP1|transcript|NM_001166266.1|protein_coding|28/28|c.3722-43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3910;p3_1000G_AF=0.780751;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=21761;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.7903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33623388;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3901,505;ESP6500_AA_GTC=1810,281,112;ESP6500_CDS_SIZES=NM_206943.2:5166,NM_001166266.1:3903,NM_001166265.1:4029,NM_001166264.1:4062,NM_000627.3:4188;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=58;ESP6500_EA_AC=6340,2260;ESP6500_EA_GTC=2655,1030,615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206943.2:intron,NM_001166266.1:intron,NM_001166265.1:intron,NM_001166264.1:intron,NM_000627.3:intron;ESP6500_GL=LTBP1;ESP6500_GRCh38_POSITION=2:33398321;ESP6500_GTC=4465,1311,727;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_206943.2:c.4985-43T>C,NM_001166266.1:c.3722-43T>C,NM_001166265.1:c.3848-43T>C,NM_001166264.1:c.3881-43T>C,NM_000627.3:c.4007-43T>C;ESP6500_MAF=26.2791,11.4616,21.2594;ESP6500_TAC=10241,2765	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,23:52:99:0|1:33398320_A_G:915,0,1659
chr2	33522218	rs2305573	G	A	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-0.842;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305573;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RASGRP3|RASGRP3|transcript|NM_001139488.1|protein_coding|7/17|c.516+116G>A||||||,A|intron_variant|MODIFIER|RASGRP3|RASGRP3|transcript|NM_170672.2|protein_coding|8/18|c.516+116G>A||||||,A|intron_variant|MODIFIER|RASGRP3|RASGRP3|transcript|NM_015376.2|protein_coding|6/16|c.516+116G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4136;p3_1000G_AF=0.825879;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=19732;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.7535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33747285;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:67:131,0,67
chr2	33549694	rs2276590	T	C	1165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.547;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276590;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|RASGRP3|RASGRP3|transcript|NM_001139488.1|protein_coding|14/18|c.1485T>C|p.His495His|2199/4781|1485/2073|495/690||,C|synonymous_variant|LOW|RASGRP3|RASGRP3|transcript|NM_170672.2|protein_coding|15/19|c.1485T>C|p.His495His|2112/4694|1485/2073|495/690||,C|synonymous_variant|LOW|RASGRP3|RASGRP3|transcript|NM_015376.2|protein_coding|13/17|c.1482T>C|p.His494His|1754/4336|1482/2070|494/689||;p3_1000G_AA=T|||;p3_1000G_AC=675;p3_1000G_AF=0.134784;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=20953;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33774761;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1247;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=464,3262;ESP6500_AA_GTC=22,420,1421;ESP6500_CDS_SIZES=NM_170672.2:2073,NM_015376.2:2070,NM_001139488.1:2073;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=147;ESP6500_EA_AC=34,8192;ESP6500_EA_GTC=0,34,4079;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170672.2:coding-synonymous,NM_015376.2:coding-synonymous,NM_001139488.1:coding-synonymous;ESP6500_GL=RASGRP3;ESP6500_GRCh38_POSITION=2:33549694;ESP6500_GTC=22,454,5500;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_170672.2:c.1485T>C,NM_015376.2:c.1482T>C,NM_001139488.1:c.1485T>C;ESP6500_HGVS_PROTEIN_VAR=NM_170672.2:p.(H495),NM_015376.2:p.(H494),NM_001139488.1:p.(H495);ESP6500_MAF=0.4133,12.453,4.1667;ESP6500_TAC=498,11454	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1194,0,845
chr2	33555634	rs57686411	G	C	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.077;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=2.928;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.893;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57686411;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|RASGRP3|RASGRP3|transcript|NM_001139488.1|protein_coding|15/17|c.1579+67G>C||||||,C|intron_variant|MODIFIER|RASGRP3|RASGRP3|transcript|NM_170672.2|protein_coding|16/18|c.1579+67G>C||||||,C|intron_variant|MODIFIER|RASGRP3|RASGRP3|transcript|NM_015376.2|protein_coding|14/16|c.1576+67G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=665;p3_1000G_AF=0.132788;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=20140;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33780701;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1237;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=152,1232;ESP6500_AA_GTC=8,136,548;ESP6500_CDS_SIZES=NM_170672.2:2073,NM_015376.2:2070,NM_001139488.1:2073;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=59;ESP6500_EA_AC=11,3171;ESP6500_EA_GTC=0,11,1580;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_170672.2:intron,NM_015376.2:intron,NM_001139488.1:intron;ESP6500_GL=RASGRP3;ESP6500_GRCh38_POSITION=2:33555634;ESP6500_GTC=8,147,2128;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_170672.2:c.1579+67G>C,NM_015376.2:c.1576+67G>C,NM_001139488.1:c.1579+67G>C;ESP6500_MAF=0.3457,10.9827,3.5699;ESP6500_TAC=163,4403	GT:AD:DP:GQ:PL	0/1:16,18:34:99:453,0,393
chr2	36378161	rs4670546	G	A	87.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.12;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4670546;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding|1/16|c.332-18453G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2369;p3_1000G_AF=0.473043;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=21893;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.4712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36605304;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:116,0,231
chr2	36378442	rs4670548	A	G	1048.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4670548;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding|1/16|c.332-18172A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4280;p3_1000G_AF=0.854633;p3_1000G_AFR_AF=0.8896;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=18858;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.67;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36605585;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8814;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1077,93,0
chr2	36477001	rs848547	C	T	947.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.087;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=1.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.05;SOR=0.996;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848547;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding|6/17|c.1104C>T|p.Thr368Thr|1170/5611|1104/3111|368/1036||;p3_1000G_AA=T|||;p3_1000G_AC=3073;p3_1000G_AF=0.613618;p3_1000G_AFR_AF=0.5045;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=19401;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36704144;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2280,2126;ESP6500_AA_AGE=578.9+/-384.8;ESP6500_AA_GTC=567,1146,490;ESP6500_CDS_SIZES=NM_016441.2:3111;ESP6500_CG=-7.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=118;ESP6500_EA_AC=4428,4172;ESP6500_EA_AGE=568.9+/-389.1;ESP6500_EA_GTC=1152,2124,1024;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016441.2:coding-synonymous;ESP6500_GL=CRIM1;ESP6500_GRCh38_POSITION=2:36477001;ESP6500_GTC=1719,3270,1514;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016441.2:c.1104C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016441.2:p.(T368);ESP6500_MAF=48.5116,48.2524,48.4238;ESP6500_TAC=6708,6298	GT:AD:DP:GQ:PL	0/1:38,42:80:99:976,0,903
chr2	36479627	rs147700058	G	A	620.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.843;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.637;SOR=0.374;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147700058;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding|7/17|c.1305G>A|p.Ala435Ala|1371/5611|1305/3111|435/1036||;p3_1000G_AA=G|||;p3_1000G_AC=30;p3_1000G_AF=0.00599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19995;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36706770;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_016441.2:3111;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=131;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016441.2:coding-synonymous;ESP6500_GL=CRIM1;ESP6500_GRCh38_POSITION=2:36479627;ESP6500_GTC=0,3,6500;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016441.2:c.1305G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016441.2:p.(A435);ESP6500_MAF=0.0349,0.0,0.0231;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PL	0/1:24,25:49:99:649,0,639
chr2	36512410	rs848526	T	C	1522.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.46;SOR=1.656;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs848526;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding|10/16|c.1780+16T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4176;p3_1000G_AF=0.833866;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=18512;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.7972;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36739553;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7986;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3352,1054;ESP6500_AA_AGE=724.8+/-409.5;ESP6500_AA_GTC=1272,808,123;ESP6500_CDS_SIZES=NM_016441.2:3111;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=100;ESP6500_EA_AC=6566,2034;ESP6500_EA_AGE=720.7+/-406.3;ESP6500_EA_GTC=2501,1564,235;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016441.2:intron;ESP6500_GL=CRIM1;ESP6500_GRCh38_POSITION=2:36512410;ESP6500_GTC=3773,2372,358;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016441.2:c.1780+16T>C;ESP6500_MAF=23.6512,23.9219,23.7429;ESP6500_TAC=9918,3088	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1551,150,0
chr2	36529145	rs711247	T	C	900.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.15;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs711247;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding|13/16|c.2428+6832T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4470;p3_1000G_AF=0.892572;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=19799;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.8161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36756288;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8344;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:929,96,0
chr2	36537259	rs848516	A	G	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.12;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.626;SOR=1.314;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848516;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding|13/16|c.2429-93A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=870;p3_1000G_AF=0.173722;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=22687;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36764402;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:398,0,312
chr2	36552001	rs10180760	T	G	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.148;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10180760;dbSNPBuildID=119;ANN=G|downstream_gene_variant|MODIFIER|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding||c.*3300T>G|||||866|,G|downstream_gene_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding||c.*1162A>C|||||260|,G|downstream_gene_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding||c.*1162A>C|||||260|,G|intergenic_region|MODIFIER|CRIM1-FEZ2|CRIM1-FEZ2|intergenic_region|CRIM1-FEZ2|||n.36552001T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2225;p3_1000G_AF=0.444289;p3_1000G_AFR_AF=0.4856;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=16223;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36779144;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:241,0,228
chr2	36554258	rs1533946	T	C	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.78;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=0.576;SOR=0.51;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1533946;dbSNPBuildID=88;ANN=C|downstream_gene_variant|MODIFIER|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding||c.*5557T>C|||||3123|,C|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|8/8|c.1127-1079A>G||||||,C|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|7/7|c.1046-1079A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2223;p3_1000G_AF=0.44389;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=18933;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.3907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36781401;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,13:19:99:355,0,161
chr2	36555743	rs848642	G	A	803.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=1.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs848642;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|8/9|c.1066C>T|p.Arg356Cys|1113/2092|1066/1143|356/380||,A|missense_variant|MODERATE|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|7/8|c.985C>T|p.Arg329Cys|1032/2011|985/1062|329/353||,A|downstream_gene_variant|MODIFIER|CRIM1|CRIM1|transcript|NM_016441.2|protein_coding||c.*7042G>A|||||4608|;p3_1000G_AA=G|||;p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.5938;p3_1000G_AMR_AF=0.5159;p3_1000G_AN=5008;p3_1000G_DP=16726;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.2893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36782886;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2058,1562;ESP6500_AA_GTC=593,872,345;ESP6500_CDS_SIZES=NM_005102.2:1062,NM_001042548.1:1143;ESP6500_CG=2.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=55;ESP6500_EA_AC=2544,5588;ESP6500_EA_GTC=425,1694,1947;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005102.2:missense,NM_001042548.1:missense;ESP6500_GL=FEZ2;ESP6500_GRCh38_POSITION=2:36555743;ESP6500_GS=180,180;ESP6500_GTC=1018,2566,2292;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005102.2:c.985C>T,NM_001042548.1:c.1066C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005102.2:p.(R329C),NM_001042548.1:p.(R356C);ESP6500_MAF=31.2838,43.1492,39.1593;ESP6500_PH=possibly-damaging:0.911,possibly-damaging:0.911;ESP6500_TAC=4602,7150	GT:AD:DP:GQ:PL	1/1:0,29:29:87:832,87,0
chr2	36558316	rs17019091	T	C	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.504;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.148;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17019091;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|7/8|c.1060+122A>G||||||,C|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|6/7|c.979+122A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=624;p3_1000G_AF=0.124601;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=17585;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36785459;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:166,0,224
chr2	36578533	rs2075226	A	G	296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.143;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.311;SOR=0.211;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075226;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|5/8|c.903+64T>C||||||,G|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|5/7|c.903+64T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2454;p3_1000G_AF=0.490016;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=17002;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36805676;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,12:25:99:325,0,373
chr2	36578878	rs2072534	G	A	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.586;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=14.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.261;SOR=3.126;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072534;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|4/8|c.635-13C>T||||||,A|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|4/7|c.635-13C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2364;p3_1000G_AF=0.472045;p3_1000G_AFR_AF=0.5741;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=19151;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.3956;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36806021;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1941,1775;ESP6500_AA_GTC=513,915,430;ESP6500_CDS_SIZES=NM_005102.2:1062,NM_001042548.1:1143;ESP6500_CG=-0.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=63;ESP6500_EA_AC=2908,5290;ESP6500_EA_GTC=515,1878,1706;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005102.2:intron,NM_001042548.1:intron;ESP6500_GL=FEZ2;ESP6500_GRCh38_POSITION=2:36578878;ESP6500_GTC=1028,2793,2136;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005102.2:c.635-13C>T,NM_001042548.1:c.635-13C>T;ESP6500_MAF=35.4721,47.7664,40.7;ESP6500_TAC=4849,7065	GT:AD:DP:GQ:PL	0/1:28,14:42:99:333,0,747
chr2	36578908	rs2072533	A	G	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=2.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.158;SOR=2.041;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072533;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|4/8|c.635-43T>C||||||,G|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|4/7|c.635-43T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2383;p3_1000G_AF=0.475839;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=20292;p3_1000G_EAS_AF=0.6478;p3_1000G_EUR_AF=0.3966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36806051;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1980,1730;ESP6500_AA_GTC=532,916,407;ESP6500_CDS_SIZES=NM_005102.2:1062,NM_001042548.1:1143;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=43;ESP6500_EA_AC=2911,5291;ESP6500_EA_GTC=518,1875,1708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005102.2:intron,NM_001042548.1:intron;ESP6500_GL=FEZ2;ESP6500_GRCh38_POSITION=2:36578908;ESP6500_GTC=1050,2791,2115;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005102.2:c.635-43T>C,NM_001042548.1:c.635-43T>C;ESP6500_MAF=35.4913,46.6307,41.0594;ESP6500_TAC=4891,7021	GT:AD:DP:GQ:PL	0/1:19,10:29:99:305,0,571
chr2	36581207	rs848638	C	T	420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs848638;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|4/8|c.634+83G>A||||||,T|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|4/7|c.634+83G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2876;p3_1000G_AF=0.574281;p3_1000G_AFR_AF=0.6157;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=20488;p3_1000G_EAS_AF=0.8661;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36808350;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:449,42,0
chr2	36581589	rs848637	T	G	814.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs848637;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|3/8|c.493-158A>C||||||,G|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|3/7|c.493-158A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4143;p3_1000G_AF=0.827276;p3_1000G_AFR_AF=0.8124;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=18197;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.7087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36808732;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:843,69,0
chr2	36581762	rs3770788	T	C	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.708;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=0.137;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770788;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|3/8|c.493-331A>G||||||,C|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|3/7|c.493-331A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2160;p3_1000G_AF=0.43131;p3_1000G_AFR_AF=0.4228;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=16719;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.3946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36808905;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:100,0,208
chr2	36583443	rs14291	T	C	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.594;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.29;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-2.1;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs14291;dbSNPBuildID=102;ANN=C|synonymous_variant|LOW|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|3/9|c.402A>G|p.Thr134Thr|449/2092|402/1143|134/380||,C|synonymous_variant|LOW|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|3/8|c.402A>G|p.Thr134Thr|449/2011|402/1062|134/353||;p3_1000G_AA=C|||;p3_1000G_AC=2147;p3_1000G_AF=0.428714;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=21080;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36810586;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1709,2153;ESP6500_AA_GTC=369,971,591;ESP6500_CDS_SIZES=NM_005102.2:1062,NM_001042548.1:1143;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=127;ESP6500_EA_AC=3043,5251;ESP6500_EA_GTC=542,1959,1646;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005102.2:coding-synonymous,NM_001042548.1:coding-synonymous;ESP6500_GL=FEZ2;ESP6500_GRCh38_POSITION=2:36583443;ESP6500_GTC=911,2930,2237;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005102.2:c.402A>G,NM_001042548.1:c.402A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005102.2:p.(T134),NM_001042548.1:p.(T134);ESP6500_MAF=36.6892,44.2517,39.0918;ESP6500_TAC=4752,7404	GT:AD:DP:GQ:PL	0/1:17,21:38:99:557,0,434
chr2	36597813	rs397827274;rs5830430	G	GC	336.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=1.085;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5830430;dbSNPBuildID=131,138;ANN=GC|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|1/8|c.266+63dupG||||||,GC|intron_variant|MODIFIER|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|1/7|c.266+63dupG||||||;p3_1000G_AA=?|C|CC|unsure;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=8023;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36824956;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:374,30,0
chr2	36597994	rs1544655	G	A	51.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1544655;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|FEZ2|FEZ2|transcript|NM_001042548.1|protein_coding|1/9|c.149C>T|p.Pro50Leu|196/2092|149/1143|50/380||,A|missense_variant|MODERATE|FEZ2|FEZ2|transcript|NM_005102.2|protein_coding|1/8|c.149C>T|p.Pro50Leu|196/2011|149/1062|50/353||;p3_1000G_AA=A|||;p3_1000G_AC=4355;p3_1000G_AF=0.869609;p3_1000G_AFR_AF=0.9039;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=3879;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.7435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36825137;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8538;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr2	36716276	rs4670598	T	C	1163.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4670598;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_053276.3|protein_coding|1/15|c.-18-77T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177972.1|protein_coding|1/5|c.-18-77T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177969.1|protein_coding|1/14|c.-18-77T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177970.1|protein_coding|1/13|c.-18-77T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177971.1|protein_coding|1/13|c.-18-77T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001328661.1|protein_coding|1/14|c.-18-77T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4582;p3_1000G_AF=0.914936;p3_1000G_AFR_AF=0.6997;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=17704;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36943419;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1192,111,0
chr2	36743007	rs368824845	A	G	450.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.926;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.113;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368824845;dbSNPBuildID=138;ANN=G|sequence_feature|LOW|VIT|VIT|domain:LCCL|NM_053276.3|protein_coding|3/15|c.119-93A>G||||||,G|sequence_feature|LOW|VIT|VIT|domain:LCCL|NM_001177972.1|protein_coding|3/5|c.119-93A>G||||||,G|sequence_feature|LOW|VIT|VIT|domain:LCCL|NM_001177970.1|protein_coding|3/13|c.119-93A>G||||||,G|sequence_feature|LOW|VIT|VIT|domain:LCCL|NM_001177971.1|protein_coding|3/13|c.119-93A>G||||||,G|intron_variant|MODIFIER|VIT|VIT|transcript|NM_053276.3|protein_coding|3/15|c.119-93A>G||||||,G|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177972.1|protein_coding|3/5|c.119-93A>G||||||,G|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177969.1|protein_coding|3/14|c.119-93A>G||||||,G|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177970.1|protein_coding|3/13|c.119-93A>G||||||,G|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177971.1|protein_coding|3/13|c.119-93A>G||||||,G|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001328661.1|protein_coding|3/14|c.119-93A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19644;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36970150;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,16:35:99:479,0,541
chr2	36767296	rs11124542	A	C	273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.312;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.575;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11124542;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_053276.3|protein_coding|7/15|c.679+11A>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177969.1|protein_coding|7/14|c.679+11A>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177970.1|protein_coding|7/13|c.679+11A>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177971.1|protein_coding|7/13|c.679+11A>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001328661.1|protein_coding|7/14|c.679+11A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2358;p3_1000G_AF=0.470847;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=18959;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.3917;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36994439;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2426,1980;ESP6500_AA_AGE=616.2+/-392.7;ESP6500_AA_GTC=672,1082,449;ESP6500_CDS_SIZES=NM_053276.3:2082,NM_001177971.1:1971,NM_001177970.1:1974,NM_001177969.1:2037;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=46;ESP6500_EA_AC=3551,5049;ESP6500_EA_AGE=511.7+/-377.8;ESP6500_EA_GTC=725,2101,1474;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053276.3:intron,NM_001177971.1:intron,NM_001177970.1:intron,NM_001177969.1:intron;ESP6500_GL=VIT;ESP6500_GRCh38_POSITION=2:36767296;ESP6500_GTC=1397,3183,1923;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_053276.3:c.679+11A>C,NM_001177971.1:c.679+11A>C,NM_001177970.1:c.679+11A>C,NM_001177969.1:c.679+11A>C;ESP6500_MAF=41.2907,44.9387,45.9557;ESP6500_TAC=5977,7029	GT:AD:DP:GQ:PL	0/1:12,12:24:99:302,0,335
chr2	36767310	rs117495370	T	C	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.031;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117495370;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_053276.3|protein_coding|7/15|c.679+25T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177969.1|protein_coding|7/14|c.679+25T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177970.1|protein_coding|7/13|c.679+25T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177971.1|protein_coding|7/13|c.679+25T>C||||||,C|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001328661.1|protein_coding|7/14|c.679+25T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=38;p3_1000G_AF=0.00758786;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19023;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36994453;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:284,0,323
chr2	36783431	rs3821147	G	A	758.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3821147;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|VIT|VIT|transcript|NM_053276.3|protein_coding|11/15|c.910+29G>A||||||,A|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177969.1|protein_coding|10/14|c.865+29G>A||||||,A|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177970.1|protein_coding|9/13|c.803-3698G>A||||||,A|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177971.1|protein_coding|9/13|c.799+29G>A||||||,A|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001328661.1|protein_coding|10/14|c.844+29G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2487;p3_1000G_AF=0.496605;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=18803;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37010574;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=801,3605;ESP6500_AA_AGE=319.1+/-295.9;ESP6500_AA_GTC=73,655,1475;ESP6500_CDS_SIZES=NM_053276.3:2082,NM_001177971.1:1971,NM_001177970.1:1974,NM_001177969.1:2037;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=71;ESP6500_EA_AC=5693,2907;ESP6500_EA_AGE=667.9+/-402.5;ESP6500_EA_GTC=1881,1931,488;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053276.3:intron,NM_001177971.1:intron,NM_001177970.1:intron,NM_001177969.1:intron;ESP6500_GL=VIT;ESP6500_GRCh38_POSITION=2:36783431;ESP6500_GTC=1954,2586,1963;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_053276.3:c.910+29G>A,NM_001177971.1:c.799+29G>A,NM_001177970.1:c.803-3698G>A,NM_001177969.1:c.865+29G>A;ESP6500_MAF=33.8023,18.1798,49.9308;ESP6500_TAC=6494,6512	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:72:1|1:36783427_C_A:787,72,0
chr2	36805308	rs567911067	G	GA	21.76	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=-1.1;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35117700;dbSNPBuildID=142;ANN=GA|intron_variant|MODIFIER|VIT|VIT|transcript|NM_053276.3|protein_coding|13/15|c.1163-111dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177969.1|protein_coding|12/14|c.1118-111dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177970.1|protein_coding|11/13|c.1055-111dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001177971.1|protein_coding|11/13|c.1052-111dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|VIT|VIT|transcript|NM_001328661.1|protein_coding|12/14|c.1097-111dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2190;p3_1000G_AF=0.4373;p3_1000G_AFR_AF=0.4039;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=17522;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.4085;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37032451;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,4:8:48:59,0,48
chr2	36849872	rs723674	C	A	542.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs723674;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding|16/17|c.2087-72G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4693;p3_1000G_AF=0.937101;p3_1000G_AFR_AF=0.7708;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=5038;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37077015;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:571,48,0
chr2	36857787	rs373567716	CTGCT	C	34.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=1.28;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs373567716;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding|14/17|c.1837+65_1837+68delAGCA||||||;p3_1000G_AC=21;p3_1000G_AF=0.00419329;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18160;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37084930;p3_1000G_GRCH37_REF=CTGCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,232
chr2	36867661	rs75915538	C	T	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.63;ReadPosRankSum=-0.842;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75915538;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding|12/17|c.1547+153G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=356;p3_1000G_AF=0.0710863;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=16762;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37094804;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:56:56,0,144
chr2	36867802	rs2540923	A	G	864.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2540923;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding|12/17|c.1547+12T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4544;p3_1000G_AF=0.907348;p3_1000G_AFR_AF=0.6944;p3_1000G_AMR_AF=0.9553;p3_1000G_AN=5008;p3_1000G_DP=17623;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9871;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37094945;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3265,1141;ESP6500_AA_AGE=388.2+/-326.8;ESP6500_AA_GTC=1202,861,140;ESP6500_CDS_SIZES=NM_003162.3:2343;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=82;ESP6500_EA_AC=8469,111;ESP6500_EA_AGE=54.0+/-114.7;ESP6500_EA_GTC=4179,111,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003162.3:intron;ESP6500_GL=STRN;ESP6500_GRCh38_POSITION=2:36867802;ESP6500_GTC=5381,972,140;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003162.3:c.1547+12T>C;ESP6500_MAF=1.2937,25.8965,9.6412;ESP6500_TAC=11734,1252	GT:AD:DP:GQ:PL	1/1:0,27:27:81:893,81,0
chr2	36878035	rs17020024	G	A	296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.904;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.086;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-2.238;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17020024;dbSNPBuildID=123;ANN=A|splice_region_variant&intron_variant|LOW|STRN|STRN|transcript|NM_003162.3|protein_coding|9/17|c.1187-8C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=414;p3_1000G_AF=0.0826677;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=17160;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37105178;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=421,3985;ESP6500_AA_AGE=181.9+/-209.8;ESP6500_AA_GTC=17,387,1799;ESP6500_CDS_SIZES=NM_003162.3:2343;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=121;ESP6500_EA_AC=173,8427;ESP6500_EA_AGE=70.7+/-133.2;ESP6500_EA_GTC=1,171,4128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003162.3:intron;ESP6500_GL=STRN;ESP6500_GRCh38_POSITION=2:36878035;ESP6500_GTC=18,558,5927;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003162.3:c.1187-8C>T;ESP6500_MAF=2.0116,9.5552,4.5671;ESP6500_TAC=594,12412	GT:AD:DP:GQ:PL	0/1:8,12:20:99:325,0,223
chr2	36883902	rs2691106	T	A	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.356;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=0.401;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2691106;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding|9/17|c.1186+30A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=17276;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.5358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37111045;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=650,3756;ESP6500_AA_AGE=275.4+/-272.5;ESP6500_AA_GTC=49,552,1602;ESP6500_CDS_SIZES=NM_003162.3:2343;ESP6500_CG=4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=4851,3749;ESP6500_EA_AGE=614.0+/-396.2;ESP6500_EA_GTC=1383,2085,832;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003162.3:intron;ESP6500_GL=STRN;ESP6500_GRCh38_POSITION=2:36883902;ESP6500_GTC=1432,2637,2434;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_003162.3:c.1186+30A>T;ESP6500_MAF=43.593,14.7526,42.2959;ESP6500_TAC=5501,7505	GT:AD:DP:GQ:PL	0/1:12,9:21:99:220,0,294
chr2	36915997	rs2302658	A	G	428.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.189;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.475;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.231;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302658;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding|3/17|c.412+81T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=866;p3_1000G_AF=0.172923;p3_1000G_AFR_AF=0.3949;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=20240;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37143140;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,18:32:99:457,0,343
chr2	36925229	rs7583071	A	C	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.802;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.47;MQRankSum=-1.737;QD=11.4;ReadPosRankSum=0.148;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7583071;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding|1/17|c.235-21T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=925;p3_1000G_AF=0.184704;p3_1000G_AFR_AF=0.3986;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=16535;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.0686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37152372;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1384,2978;ESP6500_AA_GTC=235,914,1032;ESP6500_CDS_SIZES=NM_003162.3:2343;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=29;ESP6500_EA_AC=339,8245;ESP6500_EA_GTC=11,317,3964;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003162.3:intron;ESP6500_GL=STRN;ESP6500_GRCh38_POSITION=2:36925229;ESP6500_GTC=246,1231,4996;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_003162.3:c.235-21T>G;ESP6500_MAF=3.9492,31.7286,13.3091;ESP6500_TAC=1723,11223	GT:AD:DP:GQ:PL	0/1:9,8:17:99:222,0,239
chr2	36925282	rs17020069	T	C	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.068;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17020069;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding|1/17|c.235-74A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=892;p3_1000G_AF=0.178115;p3_1000G_AFR_AF=0.3941;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=17376;p3_1000G_EAS_AF=0.1498;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37152425;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:105,0,127
chr2	36968624	rs74971582	A	C	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.355;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=6.164;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.887;SOR=1.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74971582;dbSNPBuildID=131;ANN=C|upstream_gene_variant|MODIFIER|STRN|STRN|transcript|NM_003162.3|protein_coding||c.-2161T>G|||||2152|,C|intergenic_region|MODIFIER|STRN-HEATR5B|STRN-HEATR5B|intergenic_region|STRN-HEATR5B|||n.36968624A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=98;p3_1000G_AF=0.0195687;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18291;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37195767;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,15:33:99:430,0,485
chr2	37000654	rs62621396	C	G	919.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.357;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=0.374;SOR=0.671;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62621396;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|HEATR5B|HEATR5B|transcript|NM_019024.2|protein_coding|33/36|c.5477G>C|p.Gly1826Ala|5576/6804|5477/6216|1826/2071||;p3_1000G_AA=C|||;p3_1000G_AC=652;p3_1000G_AF=0.130192;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=18957;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.0507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37227797;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=903,3503;ESP6500_AA_AGE=348.7+/-310.1;ESP6500_AA_GTC=91,721,1391;ESP6500_CDS_SIZES=NM_019024.1:6216;ESP6500_CG=3.9;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=143;ESP6500_EA_AC=446,8154;ESP6500_EA_AGE=134.7+/-192.1;ESP6500_EA_GTC=11,424,3865;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019024.1:missense;ESP6500_GL=HEATR5B;ESP6500_GRCh38_POSITION=2:37000654;ESP6500_GS=60;ESP6500_GTC=102,1145,5256;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_019024.1:c.5477G>C;ESP6500_HGVS_PROTEIN_VAR=NM_019024.1:p.(G1826A);ESP6500_MAF=5.186,20.4948,10.3721;ESP6500_PH=probably-damaging:0.972;ESP6500_TAC=1349,11657	GT:AD:DP:GQ:PL	0/1:24,33:57:99:948,0,779
chr2	37003745	rs2706811	A	G	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.31;ReadPosRankSum=0.319;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2706811;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|HEATR5B|HEATR5B|transcript|NM_019024.2|protein_coding|30/35|c.4906-59T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1351;p3_1000G_AF=0.269768;p3_1000G_AFR_AF=0.5446;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=16184;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.1879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37230888;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:84:220,0,84
chr2	37005853	rs184353380	T	C	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs184353380;dbSNPBuildID=135;ANN=C|intron_variant|MODIFIER|HEATR5B|HEATR5B|transcript|NM_019024.2|protein_coding|29/35|c.4778-94A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18024;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37232996;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:73:109,0,73
chr2	37019672	rs74340144	A	AT	107.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.714;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=0.581;SOR=0.269;INS;HET;VARTYPE=INS;dbSNP138_ID=rs74340144;dbSNPBuildID=131;ANN=AT|intron_variant|MODIFIER|HEATR5B|HEATR5B|transcript|NM_019024.2|protein_coding|26/35|c.4104+136dupA||||||;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=337;p3_1000G_AF=0.0672923;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=16201;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37246815;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,5:14:99:145,0,292
chr2	37027872	rs2540998	G	A	150.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.065;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-1.77;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2540998;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HEATR5B|HEATR5B|transcript|NM_019024.2|protein_coding|24/35|c.3853+51C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=20631;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.5308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37255015;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3594,810;ESP6500_AA_GTC=1478,638,86;ESP6500_CDS_SIZES=NM_019024.1:6216;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=4639,3961;ESP6500_EA_GTC=1265,2109,926;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019024.1:intron;ESP6500_GL=HEATR5B;ESP6500_GRCh38_POSITION=2:37027872;ESP6500_GTC=2743,2747,1012;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019024.1:c.3853+51C>T;ESP6500_MAF=46.0581,18.3924,36.6887;ESP6500_TAC=8233,4771	GT:AD:DP:GQ:PL	0/1:10,7:17:99:179,0,308
chr2	37032497	rs9309001	G	T	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.319;SOR=2.788;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9309001;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|HEATR5B|HEATR5B|transcript|NM_019024.2|protein_coding|22/35|c.3361+132C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2101;p3_1000G_AF=0.419529;p3_1000G_AFR_AF=0.2753;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=19008;p3_1000G_EAS_AF=0.6657;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37259640;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:29:68,0,29
chr2	37075413	rs34545380;rs397813708	GA	G	53.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.75;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34545380;dbSNPBuildID=134,138;ANN=G|intron_variant|MODIFIER|HEATR5B|HEATR5B|transcript|NM_019024.2|protein_coding|5/35|c.597+71delT||||||;p3_1000G_AA=AAAAAAAA|AAAAAAAAA|AAAAAAAA|insertion;p3_1000G_AC=4647;p3_1000G_AF=0.927915;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=19070;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37302556;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0
chr2	37079200	rs6743906	G	A	763.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.28;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6743906;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|HEATR5B|HEATR5B|transcript|NM_019024.2|protein_coding|3/36|c.258C>T|p.Phe86Phe|357/6804|258/6216|86/2071||;p3_1000G_AA=A|||;p3_1000G_AC=4654;p3_1000G_AF=0.929313;p3_1000G_AFR_AF=0.7489;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=15435;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37306343;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3420,982;ESP6500_AA_AGE=368.3+/-318.6;ESP6500_AA_GTC=1328,764,109;ESP6500_CDS_SIZES=NM_019024.1:6216;ESP6500_CG=-3.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=80;ESP6500_EA_AC=8583,11;ESP6500_EA_AGE=7.7+/-29.5;ESP6500_EA_GTC=4286,11,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019024.1:coding-synonymous;ESP6500_GL=HEATR5B;ESP6500_GRCh38_POSITION=2:37079200;ESP6500_GTC=5614,775,109;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019024.1:c.258C>T;ESP6500_HGVS_PROTEIN_VAR=NM_019024.1:p.(F86);ESP6500_MAF=0.128,22.308,7.6408;ESP6500_TAC=12003,993	GT:AD:DP:GQ:PL	1/1:0,28:28:84:792,84,0
chr2	37090726	rs4670654	C	T	568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4670654;dbSNPBuildID=111;ANN=T|splice_region_variant&intron_variant|LOW|GPATCH11|GPATCH11|transcript|NM_174931.3|protein_coding|4/8|c.394+4C>T||||||,T|intron_variant|MODIFIER|GPATCH11|GPATCH11|transcript|NM_001278505.1|protein_coding|2/6|c.8-1190C>T||||||,T|intron_variant|MODIFIER|GPATCH11|GPATCH11|transcript|NM_001322249.1|protein_coding|3/7|c.352+860C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4650;p3_1000G_AF=0.928514;p3_1000G_AFR_AF=0.7481;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=16426;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37317869;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:597,57,0
chr2	37146839	rs2307475	A	AT	527.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=1.329;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs2307475;dbSNPBuildID=113;ANN=AT|intron_variant|MODIFIER|EIF2AK2|EIF2AK2|transcript|NM_001135651.2|protein_coding|4/16|c.240+13_240+14insA||||||,AT|intron_variant|MODIFIER|EIF2AK2|EIF2AK2|transcript|NM_001135652.2|protein_coding|2/13|c.240+13_240+14insA||||||,AT|intron_variant|MODIFIER|EIF2AK2|EIF2AK2|transcript|NM_002759.3|protein_coding|4/16|c.240+13_240+14insA||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=4682;p3_1000G_AF=0.934904;p3_1000G_AFR_AF=0.77;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=20139;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37373982;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3429,835;ESP6500_AA_GTC=1382,665,85;ESP6500_CDS_SIZES=NM_002759.3:1656,NM_001135652.2:1533,NM_001135651.2:1656;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=123;ESP6500_EA_AC=8247,7;ESP6500_EA_GTC=4120,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002759.3:intron,NM_001135652.2:intron,NM_001135651.2:intron;ESP6500_GL=EIF2AK2;ESP6500_GRCh38_POSITION=2:37146839;ESP6500_GTC=5502,672,85;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002759.3:c.240+13_240+14insA,NM_001135652.2:c.240+13_240+14insA,NM_001135651.2:c.240+13_240+14insA;ESP6500_MAF=0.0848,19.5826,6.7263;ESP6500_TAC=11676,842	GT:AD:DP:GQ:PL	1/1:0,14:14:42:565,42,0
chr2	37149148	rs2254958	G	A	711.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.47;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2254958;dbSNPBuildID=100;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|EIF2AK2|EIF2AK2|transcript|NM_002759.3|protein_coding|2/17|c.-308C>T||||||,A|5_prime_UTR_variant|MODIFIER|EIF2AK2|EIF2AK2|transcript|NM_002759.3|protein_coding|2/17|c.-308C>T|||||1342|,A|upstream_gene_variant|MODIFIER|EIF2AK2|EIF2AK2|transcript|NM_001135652.2|protein_coding||c.-1342C>T|||||1326|,A|intron_variant|MODIFIER|EIF2AK2|EIF2AK2|transcript|NM_001135651.2|protein_coding|1/16|c.-183-125C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1869;p3_1000G_AF=0.373203;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=17973;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37376291;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:74:740,74,0
chr2	37179501	rs10182091	A	G	879.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10182091;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|SULT6B1|SULT6B1|transcript|NM_001032377.1|protein_coding|4/7|c.372T>C|p.Tyr124Tyr|393/934|372/798|124/265||;p3_1000G_AA=A|||;p3_1000G_AC=2128;p3_1000G_AF=0.42492;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=19585;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.2565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37406644;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1101,3305;ESP6500_AA_AGE=398.1+/-330.7;ESP6500_AA_GTC=142,817,1244;ESP6500_CDS_SIZES=NM_001032377.1:798;ESP6500_CG=-1.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=154;ESP6500_EA_AC=2157,6443;ESP6500_EA_AGE=371.0+/-336.1;ESP6500_EA_GTC=299,1559,2442;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001032377.1:coding-synonymous;ESP6500_GL=SULT6B1;ESP6500_GRCh38_POSITION=2:37179501;ESP6500_GTC=441,2376,3686;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001032377.1:c.372T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001032377.1:p.(Y124);ESP6500_MAF=25.0814,24.9887,25.05;ESP6500_TAC=3258,9748	GT:AD:DP:GQ:PL	1/1:0,29:29:87:908,87,0
chr2	37179537	rs10205833	C	G	1059.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10205833;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|SULT6B1|SULT6B1|transcript|NM_001032377.1|protein_coding|4/7|c.336G>C|p.Leu112Phe|357/934|336/798|112/265||;p3_1000G_AA=G|||;p3_1000G_AC=2128;p3_1000G_AF=0.42492;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=19419;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.2614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37406680;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1090,3316;ESP6500_AA_AGE=720.1+/-409.0;ESP6500_AA_GTC=140,810,1253;ESP6500_CDS_SIZES=NM_001032377.1:798;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=134;ESP6500_EA_AC=2158,6442;ESP6500_EA_AGE=712.8+/-405.9;ESP6500_EA_GTC=299,1560,2441;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001032377.1:missense;ESP6500_GL=SULT6B1;ESP6500_GRCh38_POSITION=2:37179537;ESP6500_GS=22;ESP6500_GTC=439,2370,3694;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001032377.1:c.336G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001032377.1:p.(L112F);ESP6500_MAF=25.093,24.739,24.9731;ESP6500_PH=benign:0.0;ESP6500_TAC=3248,9758	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1088,105,0
chr2	37179618	rs4459710	T	C	821.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4459710;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|SULT6B1|SULT6B1|transcript|NM_001032377.1|protein_coding|3/6|c.289-34A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2134;p3_1000G_AF=0.426118;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=19446;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.2624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37406761;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1097,3309;ESP6500_AA_AGE=383.5+/-324.9;ESP6500_AA_GTC=141,815,1247;ESP6500_CDS_SIZES=NM_001032377.1:798;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=53;ESP6500_EA_AC=2155,6445;ESP6500_EA_AGE=363.7+/-333.3;ESP6500_EA_GTC=299,1557,2444;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001032377.1:intron;ESP6500_GL=SULT6B1;ESP6500_GRCh38_POSITION=2:37179618;ESP6500_GTC=440,2372,3691;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001032377.1:c.289-34A>G;ESP6500_MAF=25.0581,24.8979,25.0038;ESP6500_TAC=3252,9754	GT:AD:DP:GQ:PL	1/1:0,25:25:75:850,75,0
chr2	37179664	rs2111630	A	G	578.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.05;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2111630;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|SULT6B1|SULT6B1|transcript|NM_001032377.1|protein_coding|3/6|c.289-80T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2133;p3_1000G_AF=0.425919;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=18684;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37406807;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:607,51,0
chr2	37179723	rs13401374	A	G	269.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13401374;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SULT6B1|SULT6B1|transcript|NM_001032377.1|protein_coding|3/6|c.289-139T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2066;p3_1000G_AF=0.41254;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=20128;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37406866;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:298,21,0
chr2	37201600	rs2540973	C	T	1076.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=0.752;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2540973;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|CEBPZ|CEBPZ|transcript|NM_005760.2|protein_coding||c.*164G>A|||||31|,T|intron_variant|MODIFIER|CEBPZOS|CEBPZOS|transcript|NM_001322373.1|protein_coding|4/5|c.161-42C>T||||||,T|intron_variant|MODIFIER|CEBPZOS|CEBPZOS|transcript|NM_001322374.1|protein_coding|3/4|c.161-42C>T||||||,T|intron_variant|MODIFIER|CEBPZOS|CEBPZOS|transcript|NM_001322375.1|protein_coding|3/4|c.161-42C>T||||||,T|intron_variant|MODIFIER|CEBPZOS|CEBPZOS|transcript|NM_001322376.1|protein_coding|3/4|c.161-42C>T||||||,T|intron_variant|MODIFIER|CEBPZOS|CEBPZOS|transcript|NR_136316.1|pseudogene|3/7|n.222-42C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4108;p3_1000G_AF=0.820288;p3_1000G_AFR_AF=0.8616;p3_1000G_AMR_AF=0.8617;p3_1000G_AN=5008;p3_1000G_DP=16201;p3_1000G_EAS_AF=0.9583;p3_1000G_EUR_AF=0.6958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37428743;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1105,99,0
chr2	37211850	rs1137437	G	A	537.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.324;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.388;SOR=0.561;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1137437;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|CEBPZ|CEBPZ|transcript|NM_005760.2|protein_coding|12/16|c.2793C>T|p.Ser931Ser|2823/3328|2793/3165|931/1054||,A|intron_variant|MODIFIER|CEBPZOS|CEBPZOS|transcript|NR_136316.1|pseudogene|5/7|n.504-1587G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1600;p3_1000G_AF=0.319489;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=20249;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.4264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37438993;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1242,3162;ESP6500_AA_AGE=426.6+/-341.2;ESP6500_AA_GTC=165,912,1125;ESP6500_CDS_SIZES=NM_005760.2:3165;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=114;ESP6500_EA_AC=3454,5144;ESP6500_EA_AGE=506.3+/-376.6;ESP6500_EA_GTC=708,2038,1553;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005760.2:coding-synonymous;ESP6500_GL=CEBPZ;ESP6500_GRCh38_POSITION=2:37211850;ESP6500_GTC=873,2950,2678;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005760.2:c.2793C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005760.2:p.(S931);ESP6500_MAF=40.1721,28.2016,36.1175;ESP6500_TAC=4696,8306	GT:AD:DP:GQ:PL	0/1:17,22:39:99:566,0,408
chr2	37228889	rs2098386	C	T	381.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.71;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2098386;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|CEBPZ|CEBPZ|transcript|NM_005760.2|protein_coding|2/16|c.304G>A|p.Val102Ile|334/3328|304/3165|102/1054||,T|upstream_gene_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_144736.4|protein_coding||c.-2817C>T|||||2742|,T|upstream_gene_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_001083946.1|protein_coding||c.-2817C>T|||||2742|;p3_1000G_AA=T|||;p3_1000G_AC=4707;p3_1000G_AF=0.939896;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=16908;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8549;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37456032;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4249,155;ESP6500_AA_AGE=103.4+/-141.9;ESP6500_AA_GTC=2053,143,6;ESP6500_CDS_SIZES=NM_005760.2:3165;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=48;ESP6500_EA_AC=7188,1412;ESP6500_EA_AGE=266.1+/-286.5;ESP6500_EA_GTC=3029,1130,141;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005760.2:missense;ESP6500_GL=CEBPZ;ESP6500_GRCh38_POSITION=2:37228889;ESP6500_GS=29;ESP6500_GTC=5082,1273,147;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005760.2:c.304G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005760.2:p.(V102I);ESP6500_MAF=16.4186,3.5195,12.0501;ESP6500_PH=benign:0.0;ESP6500_TAC=11437,1567	GT:AD:DP:GQ:PL	1/1:0,11:11:33:410,33,0
chr2	37231525	rs3213746	G	A	1139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.857;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=0.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.329;SOR=0.548;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213746;dbSNPBuildID=106;ANN=A|missense_variant|MODERATE|CEBPZ|CEBPZ|transcript|NM_005760.2|protein_coding|1/16|c.43C>T|p.Pro15Ser|73/3328|43/3165|15/1054||,A|upstream_gene_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_144736.4|protein_coding||c.-181G>A|||||106|,A|upstream_gene_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_001083946.1|protein_coding||c.-181G>A|||||106|;p3_1000G_AA=G|||;p3_1000G_AC=660;p3_1000G_AF=0.131789;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=18358;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.0249;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37458668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=85,4321;ESP6500_AA_AGE=71.4+/-109.4;ESP6500_AA_GTC=1,83,2119;ESP6500_CDS_SIZES=NM_005760.2:3165;ESP6500_CG=5.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=55;ESP6500_EA_AC=116,8484;ESP6500_EA_AGE=59.8+/-121.6;ESP6500_EA_GTC=1,114,4185;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005760.2:missense;ESP6500_GL=CEBPZ;ESP6500_GRCh38_POSITION=2:37231525;ESP6500_GS=74;ESP6500_GTC=2,197,6304;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005760.2:c.43C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005760.2:p.(P15S);ESP6500_MAF=1.3488,1.9292,1.5454;ESP6500_PH=probably-damaging:0.987;ESP6500_TAC=201,12805	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1168,0,1232
chr2	37231568	rs3213745	G	A	1208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.242;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=1.744;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.013;SOR=0.91;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213745;dbSNPBuildID=106;ANN=A|5_prime_UTR_variant|MODIFIER|CEBPZ|CEBPZ|transcript|NM_005760.2|protein_coding|1/16|c.-1C>T|||||1|,A|upstream_gene_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_144736.4|protein_coding||c.-138G>A|||||63|,A|upstream_gene_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_001083946.1|protein_coding||c.-138G>A|||||63|;p3_1000G_AA=G|||;p3_1000G_AC=1468;p3_1000G_AF=0.293131;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=18528;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.4235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37458711;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=818,3588;ESP6500_AA_AGE=307.7+/-290.2;ESP6500_AA_GTC=77,664,1462;ESP6500_CDS_SIZES=NM_005760.2:3165;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=54;ESP6500_EA_AC=3424,5176;ESP6500_EA_AGE=495.9+/-374.2;ESP6500_EA_GTC=691,2042,1567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005760.2:utr-5;ESP6500_GL=CEBPZ;ESP6500_GRCh38_POSITION=2:37231568;ESP6500_GTC=768,2706,3029;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005760.2:c.-1C>T;ESP6500_MAF=39.814,18.5656,32.6157;ESP6500_TAC=4242,8764	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1237,0,1249
chr2	37232065	rs17020344	C	T	578.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.548;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.33;SOR=0.341;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17020344;dbSNPBuildID=123;ANN=T|upstream_gene_variant|MODIFIER|CEBPZ|CEBPZ|transcript|NM_005760.2|protein_coding||c.-498G>A|||||468|,T|intron_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_144736.4|protein_coding|1/9|c.56-41C>T||||||,T|intron_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_001083946.1|protein_coding|1/7|c.56-41C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=839;p3_1000G_AF=0.167532;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=18897;p3_1000G_EAS_AF=0.3532;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37459208;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=298,4108;ESP6500_AA_AGE=158.9+/-191.5;ESP6500_AA_GTC=11,276,1916;ESP6500_CDS_SIZES=NM_144736.4:1326,NM_001083946.1:1032;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=107;ESP6500_EA_AC=554,8046;ESP6500_EA_AGE=150.1+/-205.1;ESP6500_EA_GTC=25,504,3771;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144736.4:intron,NM_001083946.1:intron;ESP6500_GL=C2orf56;ESP6500_GRCh38_POSITION=2:37232065;ESP6500_GTC=36,780,5687;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144736.4:c.56-41C>T,NM_001083946.1:c.56-41C>T;ESP6500_MAF=6.4419,6.7635,6.5508;ESP6500_TAC=852,12154	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,23:47:99:0|1:37232062_G_T:607,0,809
chr2	37253106	rs1056021	A	G	780.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.24;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=-0.338;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056021;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|PRKD3|PRKD3|transcript|NM_005813.4|protein_coding|18/18|c.*71T>C|||||71|,G|downstream_gene_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_144736.4|protein_coding||c.*4756A>G|||||3945|,G|downstream_gene_variant|MODIFIER|NDUFAF7|NDUFAF7|transcript|NM_001083946.1|protein_coding||c.*4756A>G|||||3945|;p3_1000G_AA=A|||;p3_1000G_AC=1393;p3_1000G_AF=0.278155;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=15595;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.3151;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37480249;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,28:48:99:809,0,511
chr2	37277962	rs10460527	T	G	732.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.345;SOR=0.686;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10460527;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|PRKD3|PRKD3|transcript|NM_005813.4|protein_coding|8/18|c.1200A>C|p.Leu400Leu|1755/5902|1200/2673|400/890||;p3_1000G_AA=T|||;p3_1000G_AC=1118;p3_1000G_AF=0.223243;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=16392;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.1272;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37505105;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=918,3488;ESP6500_AA_AGE=350.5+/-310.9;ESP6500_AA_GTC=92,734,1377;ESP6500_CDS_SIZES=NM_005813.3:2673;ESP6500_CG=-2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=178;ESP6500_EA_AC=866,7734;ESP6500_EA_AGE=195.8+/-240.9;ESP6500_EA_GTC=62,742,3496;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005813.3:coding-synonymous;ESP6500_GL=PRKD3;ESP6500_GRCh38_POSITION=2:37277962;ESP6500_GTC=154,1476,4873;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_005813.3:c.1200A>C;ESP6500_HGVS_PROTEIN_VAR=NM_005813.3:p.(L400);ESP6500_MAF=10.0698,20.8352,13.7167;ESP6500_TAC=1784,11222	GT:AD:DP:GQ:PL	0/1:36,30:66:99:761,0,806
chr2	37279796	rs3770761	A	G	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.812;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=0;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770761;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|PRKD3|PRKD3|transcript|NM_005813.4|protein_coding|7/18|c.1122T>C|p.Asp374Asp|1677/5902|1122/2673|374/890||;p3_1000G_AA=A|||;p3_1000G_AC=815;p3_1000G_AF=0.16274;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=13660;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.0795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37506939;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=328,4078;ESP6500_AA_AGE=173.0+/-202.9;ESP6500_AA_GTC=15,298,1890;ESP6500_CDS_SIZES=NM_005813.3:2673;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=108;ESP6500_EA_AC=514,8086;ESP6500_EA_AGE=145.6+/-201.3;ESP6500_EA_GTC=24,466,3810;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005813.3:coding-synonymous;ESP6500_GL=PRKD3;ESP6500_GRCh38_POSITION=2:37279796;ESP6500_GTC=39,764,5700;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005813.3:c.1122T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005813.3:p.(D374);ESP6500_MAF=5.9767,7.4444,6.4739;ESP6500_TAC=842,12164	GT:AD:DP:GQ:PL	0/1:6,3:9:64:64,0,134
chr2	37286443	rs2287091	A	G	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.3;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-1.03;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287091;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PRKD3|PRKD3|transcript|NM_005813.4|protein_coding|4/17|c.718-74T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=819;p3_1000G_AF=0.163538;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=18169;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.0795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37513586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:129,0,231
chr2	37289338	rs2302649	T	C	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.854;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-0.524;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302649;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PRKD3|PRKD3|transcript|NM_005813.4|protein_coding|4/17|c.717+18A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1171;p3_1000G_AF=0.233826;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=15032;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.1272;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37516481;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1051,3355;ESP6500_AA_AGE=386.8+/-326.2;ESP6500_AA_GTC=118,815,1270;ESP6500_CDS_SIZES=NM_005813.3:2673;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=73;ESP6500_EA_AC=866,7734;ESP6500_EA_AGE=196.9+/-241.7;ESP6500_EA_GTC=62,742,3496;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005813.3:intron;ESP6500_GL=PRKD3;ESP6500_GRCh38_POSITION=2:37289338;ESP6500_GTC=180,1557,4766;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005813.3:c.717+18A>G;ESP6500_MAF=10.0698,23.8538,14.7394;ESP6500_TAC=1917,11089	GT:AD:DP:GQ:PL	0/1:5,9:14:99:268,0,115
chr2	37290902	rs10177176	G	C	942.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.926;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0.915;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.159;SOR=0.829;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10177176;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|PRKD3|PRKD3|transcript|NM_005813.4|protein_coding|3/18|c.525C>G|p.Leu175Leu|1080/5902|525/2673|175/890||;p3_1000G_AA=G|||;p3_1000G_AC=1535;p3_1000G_AF=0.30651;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=18877;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.4274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37518045;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=834,3572;ESP6500_AA_AGE=330.2+/-301.4;ESP6500_AA_GTC=76,682,1445;ESP6500_CDS_SIZES=NM_005813.3:2673;ESP6500_CG=0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=155;ESP6500_EA_AC=3472,5128;ESP6500_EA_AGE=509.6+/-377.3;ESP6500_EA_GTC=719,2034,1547;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005813.3:coding-synonymous;ESP6500_GL=PRKD3;ESP6500_GRCh38_POSITION=2:37290902;ESP6500_GTC=795,2716,2992;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005813.3:c.525C>G;ESP6500_HGVS_PROTEIN_VAR=NM_005813.3:p.(L175);ESP6500_MAF=40.3721,18.9287,33.1078;ESP6500_TAC=4306,8700	GT:AD:DP:GQ:PL	0/1:26,45:71:99:971,0,609
chr2	37316228	rs6544066	A	G	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.78;ReadPosRankSum=0.152;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6544066;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PRKD3|PRKD3|transcript|NM_005813.4|protein_coding|1/17|c.288+9T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2211;p3_1000G_AF=0.441494;p3_1000G_AFR_AF=0.3835;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=20384;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.3022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37543371;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1619,2787;ESP6500_AA_AGE=658.0+/-400.3;ESP6500_AA_GTC=300,1019,884;ESP6500_CDS_SIZES=NM_005813.3:2673;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=136;ESP6500_EA_AC=2314,6286;ESP6500_EA_AGE=704.7+/-405.4;ESP6500_EA_GTC=317,1680,2303;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005813.3:intron;ESP6500_GL=PRKD3;ESP6500_GRCh38_POSITION=2:37316228;ESP6500_GTC=617,2699,3187;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005813.3:c.288+9T>C;ESP6500_MAF=26.907,36.7453,30.2399;ESP6500_TAC=3933,9073	GT:AD:DP:GQ:PL	0/1:13,6:19:99:138,0,303
chr2	37352794	rs2230299	C	T	632.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.128;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.521;SOR=0.993;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230299;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|QPCT|QPCT|transcript|NM_012413.3|protein_coding|2/7|c.126C>T|p.Tyr42Tyr|248/1703|126/1086|42/361||;p3_1000G_AA=T|||;p3_1000G_AC=1469;p3_1000G_AF=0.293331;p3_1000G_AFR_AF=0.5401;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=19797;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.0686;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37579937;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2116,2290;ESP6500_AA_AGE=600.5+/-389.5;ESP6500_AA_GTC=524,1068,611;ESP6500_CDS_SIZES=NM_012413.3:1086;ESP6500_CG=-1.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=91;ESP6500_EA_AC=442,8158;ESP6500_EA_AGE=799.7+/-407.4;ESP6500_EA_GTC=19,404,3877;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012413.3:coding-synonymous;ESP6500_GL=QPCT;ESP6500_GRCh38_POSITION=2:37352794;ESP6500_GTC=543,1472,4488;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012413.3:c.126C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012413.3:p.(Y42);ESP6500_MAF=5.1395,48.0254,19.6678;ESP6500_TAC=2558,10448	GT:AD:DP:GQ:PL	0/1:21,24:45:99:661,0,555
chr2	37352828	rs2255991	C	T	648.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.011;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.39;SOR=0.623;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2255991;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|QPCT|QPCT|transcript|NM_012413.3|protein_coding|2/7|c.160C>T|p.Arg54Trp|282/1703|160/1086|54/361||;p3_1000G_AA=C|||;p3_1000G_AC=689;p3_1000G_AF=0.13758;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=18937;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.0229;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37579971;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=243,4163;ESP6500_AA_AGE=140.8+/-176.2;ESP6500_AA_GTC=7,229,1967;ESP6500_CDS_SIZES=NM_012413.3:1086;ESP6500_CG=4.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=98;ESP6500_EA_AC=68,8532;ESP6500_EA_AGE=39.3+/-95.6;ESP6500_EA_GTC=1,66,4233;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012413.3:missense;ESP6500_GL=QPCT;ESP6500_GRCh38_POSITION=2:37352828;ESP6500_GS=101;ESP6500_GTC=8,295,6200;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012413.3:c.160C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012413.3:p.(R54W);ESP6500_MAF=0.7907,5.5152,2.3912;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=311,12695	GT:AD:DP:GQ:PL	0/1:22,27:49:99:677,0,513
chr2	37359538	rs2302651	A	G	682.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2302651;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|QPCT|QPCT|transcript|NM_012413.3|protein_coding|2/6|c.268-42A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=20056;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.3101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37586681;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3066,1338;ESP6500_AA_GTC=1139,788,275;ESP6500_CDS_SIZES=NM_012413.3:1086;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=2802,5798;ESP6500_EA_GTC=495,1812,1993;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012413.3:intron;ESP6500_GL=QPCT;ESP6500_GRCh38_POSITION=2:37359538;ESP6500_GTC=1634,2600,2268;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012413.3:c.268-42A>G;ESP6500_MAF=32.5814,30.3815,45.1246;ESP6500_TAC=5868,7136	GT:AD:DP:GQ:PL	1/1:0,21:21:63:711,63,0
chr2	37359897	rs3815555	C	A	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.615;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=1.37;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3815555;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|QPCT|QPCT|transcript|NM_012413.3|protein_coding|3/6|c.546+39C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=668;p3_1000G_AF=0.133387;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=21860;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.0139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37587040;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0767;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=259,4147;ESP6500_AA_GTC=10,239,1954;ESP6500_CDS_SIZES=NM_012413.3:1086;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=60,8540;ESP6500_EA_GTC=0,60,4240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012413.3:intron;ESP6500_GL=QPCT;ESP6500_GRCh38_POSITION=2:37359897;ESP6500_GTC=10,299,6194;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_012413.3:c.546+39C>A;ESP6500_MAF=0.6977,5.8783,2.4527;ESP6500_TAC=319,12687	GT:AD:DP:GQ:PL	0/1:10,6:16:99:178,0,311
chr2	37368461	rs3770747	C	T	420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=5.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3770747;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|QPCT|QPCT|transcript|NM_012413.3|protein_coding|4/6|c.723+1053C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1431;p3_1000G_AF=0.285743;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=18615;p3_1000G_EAS_AF=0.498;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37595604;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:449,36,0
chr2	37368553	rs1468816	A	C	973.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1468816;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|QPCT|QPCT|transcript|NM_012413.3|protein_coding|4/6|c.724-1132A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2986;p3_1000G_AF=0.596246;p3_1000G_AFR_AF=0.7035;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=19108;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37595696;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1002,96,0
chr2	37645728	rs15628	C	T	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.284;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=0.095;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs15628;dbSNPBuildID=52;ANN=T|3_prime_UTR_variant|MODIFIER|CDC42EP3|CDC42EP3|transcript|NM_001270436.1|protein_coding|2/2|c.*95G>A|||||95|,T|3_prime_UTR_variant|MODIFIER|CDC42EP3|CDC42EP3|transcript|NM_001270437.1|protein_coding|2/2|c.*95G>A|||||95|,T|3_prime_UTR_variant|MODIFIER|CDC42EP3|CDC42EP3|transcript|NM_001270438.1|protein_coding|2/2|c.*95G>A|||||95|,T|3_prime_UTR_variant|MODIFIER|CDC42EP3|CDC42EP3|transcript|NM_006449.4|protein_coding|2/2|c.*95G>A|||||95|;p3_1000G_AA=C|||;p3_1000G_AC=403;p3_1000G_AF=0.0804712;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=18771;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37872871;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:130,0,181
chr2	37929302	rs61743792	T	C	945.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.42;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.41;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61743792;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|2/11|c.25T>C|p.Leu9Leu|148/1864|25/1233|9/410||,C|synonymous_variant|LOW|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|2/11|c.25T>C|p.Leu9Leu|148/1458|25/1188|9/395||,C|synonymous_variant|LOW|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|2/11|c.25T>C|p.Leu9Leu|217/1933|25/1233|9/410||,C|synonymous_variant|LOW|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|2/11|c.25T>C|p.Leu9Leu|219/1935|25/1233|9/410||,C|sequence_feature|LOW|RMDN2|RMDN2|transmembrane-region:Transmembrane_region|NM_001170791.2|protein_coding|2/11|c.25T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=126;p3_1000G_AF=0.0251597;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19495;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38156445;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,33:73:99:974,0,1053
chr2	37951219	rs2197561	T	C	1829.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.74;SOR=1.436;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2197561;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|RMDN2-AS1|RMDN2-AS1|transcript|NR_102712.1|pseudogene|3/3|n.323-682A>G||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding|1/10|c.18-14T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|2/10|c.452+21490T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|2/10|c.452+21490T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|2/10|c.452+21490T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|2/10|c.452+21490T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170793.2|protein_coding|1/9|c.17+624T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1970;p3_1000G_AF=0.393371;p3_1000G_AFR_AF=0.3442;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=18529;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.2475;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38178362;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1487,2919;ESP6500_AA_AGE=458.4+/-352.0;ESP6500_AA_GTC=249,989,965;ESP6500_CDS_SIZES=NM_144713.3:1722,NM_001170793.1:798,NM_001170792.1:1233,NM_001170791.1:1233;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=54;ESP6500_EA_AC=2163,6435;ESP6500_EA_AGE=360.8+/-332.1;ESP6500_EA_GTC=268,1627,2404;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144713.3:intron,NM_001170793.1:intron,NM_001170792.1:intron,NM_001170791.1:intron;ESP6500_GL=FAM82A1;ESP6500_GRCh38_POSITION=2:37951219;ESP6500_GTC=517,2616,3369;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144713.3:c.18-14T>C,NM_001170793.1:c.17+624T>C,NM_001170792.1:c.452+21490T>C,NM_001170791.1:c.452+21490T>C;ESP6500_MAF=25.157,33.7494,28.0683;ESP6500_TAC=3650,9354	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1858,153,0
chr2	37975359	rs2044447	A	G	925.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.19;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2044447;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|RMDN2-AS1|RMDN2-AS1|transcript|NR_102712.1|pseudogene|2/3|n.259-12204T>C||||||,G|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding|4/10|c.1264+45A>G||||||,G|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|4/10|c.730+45A>G||||||,G|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|4/10|c.730+45A>G||||||,G|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|4/10|c.730+45A>G||||||,G|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|4/10|c.730+45A>G||||||,G|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170793.2|protein_coding|3/9|c.295+45A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1966;p3_1000G_AF=0.392572;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=19437;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38202502;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1587,2819;ESP6500_AA_AGE=462.4+/-353.2;ESP6500_AA_GTC=281,1025,897;ESP6500_CDS_SIZES=NM_144713.3:1722,NM_001170793.1:798,NM_001170792.1:1233,NM_001170791.1:1233;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=41;ESP6500_EA_AC=2127,6473;ESP6500_EA_AGE=354.6+/-329.6;ESP6500_EA_GTC=262,1603,2435;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144713.3:intron,NM_001170793.1:intron,NM_001170792.1:intron,NM_001170791.1:intron;ESP6500_GL=FAM82A1;ESP6500_GRCh38_POSITION=2:37975359;ESP6500_GTC=543,2628,3332;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144713.3:c.1264+45A>G,NM_001170793.1:c.295+45A>G,NM_001170792.1:c.730+45A>G,NM_001170791.1:c.730+45A>G;ESP6500_MAF=24.7326,36.0191,28.5561;ESP6500_TAC=3714,9292	GT:AD:DP:GQ:PL	1/1:0,26:26:78:954,78,0
chr2	37981463	rs61676428	A	T	621.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.06;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61676428;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|RMDN2-AS1|RMDN2-AS1|transcript|NR_102712.1|pseudogene|2/3|n.259-18308T>A||||||,T|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding|5/10|c.1325+120A>T||||||,T|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|5/10|c.791+120A>T||||||,T|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|5/10|c.791+120A>T||||||,T|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|5/10|c.791+120A>T||||||,T|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|5/10|c.791+120A>T||||||,T|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170793.2|protein_coding|4/9|c.356+120A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1878;p3_1000G_AF=0.375;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=17873;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.1769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38208606;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:650,51,0
chr2	37991138	rs17021813	T	C	185.81	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.54;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17021813;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|RMDN2-AS1|RMDN2-AS1|transcript|NR_102712.1|pseudogene|2/3|n.259-27983A>G||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding|6/10|c.1402-82T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|6/10|c.868-82T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|6/10|c.868-82T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|6/10|c.868-82T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|6/10|c.868-82T>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170793.2|protein_coding|5/9|c.433-82T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1121;p3_1000G_AF=0.223842;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=15301;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.1093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38218281;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:20:214,20,0
chr2	37991350	.	G	GAATA	25.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.549;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=0.967;SOR=0.223;INS;HET;VARTYPE=INS;ANN=GAATA|intron_variant|MODIFIER|RMDN2-AS1|RMDN2-AS1|transcript|NR_102712.1|pseudogene|2/3|n.259-28196_259-28195insTATT||||||,GAATA|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding|7/10|c.1479+53_1479+54insAATA||||||,GAATA|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|7/10|c.945+53_945+54insAATA||||||,GAATA|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|7/10|c.945+53_945+54insAATA||||||,GAATA|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|7/10|c.945+53_945+54insAATA||||||,GAATA|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|7/10|c.945+53_945+54insAATA||||||,GAATA|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170793.2|protein_coding|6/9|c.510+53_510+54insAATA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,2:9:63:0|1:37991350_G_GAATA:63,0,566
chr2	37991351	.	G	A	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.812;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.86;ReadPosRankSum=0.967;SOR=0.223;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|RMDN2-AS1|RMDN2-AS1|transcript|NR_102712.1|pseudogene|2/3|n.259-28196C>T||||||,A|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding|7/10|c.1479+54G>A||||||,A|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|7/10|c.945+54G>A||||||,A|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|7/10|c.945+54G>A||||||,A|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|7/10|c.945+54G>A||||||,A|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|7/10|c.945+54G>A||||||,A|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170793.2|protein_coding|6/9|c.510+54G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,2:9:63:0|1:37991350_G_GAATA:63,0,566
chr2	38017675	rs11901988	A	C	740.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11901988;dbSNPBuildID=120;ANN=C|3_prime_UTR_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|11/11|c.*436A>C|||||436|,C|3_prime_UTR_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|11/11|c.*436A>C|||||436|,C|3_prime_UTR_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|11/11|c.*436A>C|||||436|,C|3_prime_UTR_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170793.2|protein_coding|10/10|c.*436A>C|||||436|,C|intron_variant|MODIFIER|RMDN2-AS1|RMDN2-AS1|transcript|NR_102712.1|pseudogene|2/3|n.258+12180T>G||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding|10/10|c.1713+13459A>C||||||,C|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|10/10|c.1179+13459A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2054;p3_1000G_AF=0.410144;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=17428;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38244818;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:38017675_A_C:769,54,0
chr2	38017681	rs11891536	G	A	716.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.29;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11891536;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170791.2|protein_coding|11/11|c.*442G>A|||||442|,A|3_prime_UTR_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322211.1|protein_coding|11/11|c.*442G>A|||||442|,A|3_prime_UTR_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170792.2|protein_coding|11/11|c.*442G>A|||||442|,A|3_prime_UTR_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001170793.2|protein_coding|10/10|c.*442G>A|||||442|,A|intron_variant|MODIFIER|RMDN2-AS1|RMDN2-AS1|transcript|NR_102712.1|pseudogene|2/3|n.258+12174C>T||||||,A|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding|10/10|c.1713+13465G>A||||||,A|intron_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding|10/10|c.1179+13465G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2026;p3_1000G_AF=0.404553;p3_1000G_AFR_AF=0.4924;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=17208;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38244824;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:51:1|1:38017675_A_C:745,51,0
chr2	38071007	rs1056837;166970	A	G	1915.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.21;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1056837;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|CYP1B1|CYP1B1|transcript|NM_000104.3|protein_coding|3/3|c.1347T>C|p.Asp449Asp|1750/5154|1347/1632|449/543||,G|downstream_gene_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_144713.4|protein_coding||c.*4017A>G|||||3865|,G|downstream_gene_variant|MODIFIER|RMDN2|RMDN2|transcript|NM_001322212.1|protein_coding||c.*4017A>G|||||3870|;p3_1000G_AA=G|||;p3_1000G_AC=3106;p3_1000G_AF=0.620208;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=20544;p3_1000G_EAS_AF=0.9087;p3_1000G_EUR_AF=0.6024;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38298150;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1119,3287;ESP6500_AA_AGE=718.6+/-408.9;ESP6500_AA_GTC=159,801,1243;ESP6500_CDS_SIZES=NM_000104.3:1632;ESP6500_CG=-7.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=79;ESP6500_EA_AC=4782,3818;ESP6500_EA_AGE=538.6+/-383.4;ESP6500_EA_GTC=1344,2094,862;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000104.3:coding-synonymous;ESP6500_GL=CYP1B1;ESP6500_GRCh38_POSITION=2:38071007;ESP6500_GTC=1503,2895,2105;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000104.3:c.1347T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000104.3:p.(D449);ESP6500_MAF=44.3953,25.3972,45.3714;ESP6500_TAC=5901,7105;CLINVAR_AF_ESP=0.4537;CLINVAR_ALLELEID=177657;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000659,MedGen:C0344559,OMIM:604229,SNOMED_CT:204153003|Human_Phenotype_Ontology:HP:0008007,MedGen:C1533041|MedGen:CN169374;CLINVAR_CLNDN=Irido-corneo-trabecular_dysgenesis|Primary_congenital_glaucoma|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.38071007A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24545;CLINVAR_GENEINFO=CYP1B1:1545;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1056837	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1944,168,0
chr2	38075034	rs1056827;92437	C	A	548.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.72;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.933;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056827;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|CYP1B1|CYP1B1|transcript|NM_000104.3|protein_coding|2/3|c.355G>T|p.Ala119Ser|758/5154|355/1632|119/543||;p3_1000G_AA=A|||;p3_1000G_AC=1815;p3_1000G_AF=0.36242;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=15107;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.2893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38302177;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4448;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1833,2223;ESP6500_AA_GTC=475,883,670;ESP6500_CDS_SIZES=NM_000104.3:1632;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=7;ESP6500_EA_AC=2239,5805;ESP6500_EA_GTC=402,1435,2185;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000104.3:missense;ESP6500_GL=CYP1B1;ESP6500_GRCh38_POSITION=2:38075034;ESP6500_GS=99;ESP6500_GTC=877,2318,2855;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000104.3:c.355G>T;ESP6500_HGVS_PROTEIN_VAR=NM_000104.3:p.(A119S);ESP6500_MAF=27.8344,45.1923,33.6529;ESP6500_PH=benign:0.0;ESP6500_TAC=4072,8028;CLINVAR_AF_ESP=0.3365;CLINVAR_AF_EXAC=0.41197;CLINVAR_AF_TGP=0.3624;CLINVAR_ALLELEID=98346;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0008007,MedGen:C1533041|MedGen:CN169374;CLINVAR_CLNDN=Primary_congenital_glaucoma|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.38075034C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=HGMD:CM003809|Illumina_Clinical_Services_Laboratory,Illumina:24565|UniProtKB_(protein):Q16678#VAR_011753;CLINVAR_GENEINFO=CYP1B1:1545;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1056827	GT:AD:DP:GQ:PL	0/1:31,22:53:99:577,0,972
chr2	38075247	rs10012;92436	G	C	222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.712;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.452;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.61;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10012;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|CYP1B1|CYP1B1|transcript|NM_000104.3|protein_coding|2/3|c.142C>G|p.Arg48Gly|545/5154|142/1632|48/543||;p3_1000G_AA=C|||;p3_1000G_AC=1877;p3_1000G_AF=0.3748;p3_1000G_AFR_AF=0.5741;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=14067;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.2903;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38302390;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4438;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2205,2155;ESP6500_AA_GTC=591,1023,566;ESP6500_CDS_SIZES=NM_000104.3:1632;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=17;ESP6500_EA_AC=2313,6241;ESP6500_EA_GTC=356,1601,2320;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000104.3:missense;ESP6500_GL=CYP1B1;ESP6500_GRCh38_POSITION=2:38075247;ESP6500_GS=125;ESP6500_GTC=947,2624,2886;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000104.3:c.142C>G;ESP6500_HGVS_PROTEIN_VAR=NM_000104.3:p.(R48G);ESP6500_MAF=27.04,49.4266,34.9853;ESP6500_PH=benign:0.0;ESP6500_TAC=4518,8396;CLINVAR_AF_ESP=0.3499;CLINVAR_AF_EXAC=0.37774;CLINVAR_AF_TGP=0.3748;CLINVAR_ALLELEID=98345;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0008007,MedGen:C1533041|MedGen:CN169374;CLINVAR_CLNDN=Primary_congenital_glaucoma|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.38075247G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=HGMD:CM004824|Illumina_Clinical_Services_Laboratory,Illumina:24574|UniProtKB_(protein):Q16678#VAR_011752;CLINVAR_GENEINFO=CYP1B1:1545;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10012	GT:AD:DP:GQ:PL	0/1:16,11:27:99:251,0,447
chr2	38075401	rs2617266;166974	G	A	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.268;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.435;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2617266;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CYP1B1|CYP1B1|transcript|NM_000104.3|protein_coding|1/2|c.-1-12C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1473;p3_1000G_AF=0.294129;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=15989;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.2853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38302544;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4438;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1132,3270;ESP6500_AA_AGE=693.4+/-405.7;ESP6500_AA_GTC=153,826,1222;ESP6500_CDS_SIZES=NM_000104.3:1632;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=2349,6251;ESP6500_EA_AGE=685.0+/-404.0;ESP6500_EA_GTC=332,1685,2283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000104.3:intron;ESP6500_GL=CYP1B1;ESP6500_GRCh38_POSITION=2:38075401;ESP6500_GTC=485,2511,3505;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000104.3:c.-13C>T;ESP6500_MAF=27.314,25.7156,26.7728;ESP6500_TAC=3481,9521;CLINVAR_AF_ESP=0.2677;CLINVAR_AF_EXAC=0.29928;CLINVAR_AF_TGP=0.2941;CLINVAR_ALLELEID=177661;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000659,MedGen:C0344559,OMIM:604229,SNOMED_CT:204153003|Human_Phenotype_Ontology:HP:0008007,MedGen:C1533041|MedGen:CN169374;CLINVAR_CLNDN=Irido-corneo-trabecular_dysgenesis|Primary_congenital_glaucoma|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.38075401G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24584;CLINVAR_GENEINFO=CYP1B1:1545;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2617266	GT:AD:DP:GQ:PL	0/1:15,10:25:99:254,0,414
chr2	38583786	rs151302863	A	G	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=0.453;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs151302863;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|HNRNPLL|HNRNPLL|transcript|NM_138394.3|protein_coding|4/12|c.632+55T>C||||||,G|intron_variant|MODIFIER|HNRNPLL|HNRNPLL|transcript|NM_001142650.1|protein_coding|5/13|c.617+55T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=114;p3_1000G_AF=0.0227636;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=15721;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38810928;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:187,0,135
chr2	38602989	rs115855885	G	A	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.89;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.734;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115855885;dbSNPBuildID=132;ANN=A|5_prime_UTR_variant|MODIFIER|HNRNPLL|HNRNPLL|transcript|NM_138394.3|protein_coding|1/13|c.-363C>T|||||363|,A|5_prime_UTR_variant|MODIFIER|HNRNPLL|HNRNPLL|transcript|NM_001142650.1|protein_coding|1/14|c.-122C>T|||||122|;p3_1000G_AA=G|||;p3_1000G_AC=481;p3_1000G_AF=0.0960463;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=5479;p3_1000G_EAS_AF=0.0179;p3_1000G_EUR_AF=0.0139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38830131;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,13:24:99:331,0,327
chr2	38675880	rs17576472	T	A	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.484;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.724;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.037;SOR=1.162;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17576472;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|GALM|GALM|transcript|NM_138801.2|protein_coding|1/6|c.191-32T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=605;p3_1000G_AF=0.120807;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=17446;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38903022;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=103,4303;ESP6500_AA_AGE=81.9+/-120.4;ESP6500_AA_GTC=2,99,2102;ESP6500_CDS_SIZES=NM_138801.2:1029;ESP6500_CG=1.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=60;ESP6500_EA_AC=660,7940;ESP6500_EA_AGE=167.8+/-219.5;ESP6500_EA_GTC=26,608,3666;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138801.2:intron;ESP6500_GL=GALM;ESP6500_GRCh38_POSITION=2:38675880;ESP6500_GTC=28,707,5768;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_138801.2:c.191-32T>A;ESP6500_MAF=7.6744,2.3377,5.8665;ESP6500_TAC=763,12243	GT:AD:DP:GQ:PL	0/1:21,17:38:99:477,0,626
chr2	38689764	rs11687518	T	C	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.314;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=0.535;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11687518;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|GALM|GALM|transcript|NM_138801.2|protein_coding|3/6|c.553-49T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1013;p3_1000G_AF=0.202276;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=18517;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.3121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38916906;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=474,3932;ESP6500_AA_AGE=220.7+/-238.1;ESP6500_AA_GTC=31,412,1760;ESP6500_CDS_SIZES=NM_138801.2:1029;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=65;ESP6500_EA_AC=2708,5892;ESP6500_EA_AGE=432.3+/-357.1;ESP6500_EA_GTC=435,1838,2027;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138801.2:intron;ESP6500_GL=GALM;ESP6500_GRCh38_POSITION=2:38689764;ESP6500_GTC=466,2250,3787;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138801.2:c.553-49T>C;ESP6500_MAF=31.4884,10.7581,24.4656;ESP6500_TAC=3182,9824	GT:AD:DP:GQ:PL	0/1:11,9:20:99:180,0,274
chr2	38689828	rs6741892	A	T	333.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.645;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.147;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6741892;dbSNPBuildID=116;ANN=T|structural_interaction_variant|HIGH|GALM|GALM|interaction|1SNZ:A_190-A_229:NM_138801.2|protein_coding|4/7|c.568A>T||||||,T|structural_interaction_variant|HIGH|GALM|GALM|interaction|1SNZ:B_190-B_229:NM_138801.2|protein_coding|4/7|c.568A>T||||||,T|structural_interaction_variant|HIGH|GALM|GALM|interaction|1SNZ:B_190-B_231:NM_138801.2|protein_coding|4/7|c.568A>T||||||,T|structural_interaction_variant|HIGH|GALM|GALM|interaction|1SO0:B_190-B_231:NM_138801.2|protein_coding|4/7|c.568A>T||||||,T|structural_interaction_variant|HIGH|GALM|GALM|interaction|1SO0:C_190-C_229:NM_138801.2|protein_coding|4/7|c.568A>T||||||,T|structural_interaction_variant|HIGH|GALM|GALM|interaction|1SO0:C_190-C_231:NM_138801.2|protein_coding|4/7|c.568A>T||||||,T|structural_interaction_variant|HIGH|GALM|GALM|interaction|1SO0:D_190-D_231:NM_138801.2|protein_coding|4/7|c.568A>T||||||,T|missense_variant|MODERATE|GALM|GALM|transcript|NM_138801.2|protein_coding|4/7|c.568A>T|p.Asn190Tyr|820/2483|568/1029|190/342||;p3_1000G_AA=T|||;p3_1000G_AC=919;p3_1000G_AF=0.183506;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=17622;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.0746;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38916970;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1027,3379;ESP6500_AA_AGE=726.9+/-409.8;ESP6500_AA_GTC=115,797,1291;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21339755;ESP6500_CDS_SIZES=NM_138801.2:1029;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=93;ESP6500_EA_AC=683,7917;ESP6500_EA_AGE=788.1+/-407.6;ESP6500_EA_GTC=28,627,3645;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138801.2:missense;ESP6500_GL=GALM;ESP6500_GRCh38_POSITION=2:38689828;ESP6500_GS=143;ESP6500_GTC=143,1424,4936;ESP6500_GTS=TT,TA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21339755;ESP6500_HGVS_CDNA_VAR=NM_138801.2:c.568A>T;ESP6500_HGVS_PROTEIN_VAR=NM_138801.2:p.(N190Y);ESP6500_MAF=7.9419,23.3091,13.1478;ESP6500_PH=benign:0.0;ESP6500_TAC=1710,11296	GT:AD:DP:GQ:PL	0/1:12,16:28:99:362,0,269
chr2	38729805	rs2272445	A	G	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.35;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=0.737;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272445;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GALM|GALM|transcript|NM_138801.2|protein_coding|5/6|c.776+108A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3060;p3_1000G_AF=0.611022;p3_1000G_AFR_AF=0.4576;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=19850;p3_1000G_EAS_AF=0.7976;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38956947;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:249,0,170
chr2	38748190	rs374060715	G	GT	39.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.21;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=-0.469;SOR=0.591;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GT|intron_variant|MODIFIER|SRSF7|SRSF7|transcript|NM_001031684.2|protein_coding|4/7|c.462-34dupA||||||,GT|intron_variant|MODIFIER|SRSF7|SRSF7|transcript|NM_001195446.1|protein_coding|4/6|c.462-34dupA||||||	GT:AD:DP:GQ:PL	0/1:18,6:24:77:77,0,362
chr2	38750229	rs3112183	C	T	343.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.44;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3112183;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|SRSF7|SRSF7|transcript|NM_001031684.2|protein_coding|1/7|c.29-35G>A||||||,T|intron_variant|MODIFIER|SRSF7|SRSF7|transcript|NM_001195446.1|protein_coding|1/6|c.29-35G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3328;p3_1000G_AF=0.664537;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=17465;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.7107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38977371;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1921,2485;ESP6500_AA_AGE=616.4+/-392.8;ESP6500_AA_GTC=427,1067,709;ESP6500_CDS_SIZES=NM_001195446.1:681,NM_001031684.2:717;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=53;ESP6500_EA_AC=6034,2566;ESP6500_EA_AGE=414.1+/-351.3;ESP6500_EA_GTC=2119,1796,385;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001195446.1:intron,NM_001031684.2:intron;ESP6500_GL=SRSF7;ESP6500_GRCh38_POSITION=2:38750229;ESP6500_GTC=2546,2863,1094;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001195446.1:c.29-35G>A,NM_001031684.2:c.29-35G>A;ESP6500_MAF=29.8372,43.5996,38.8359;ESP6500_TAC=7955,5051	GT:AD:DP:GQ:PL	1/1:0,13:13:39:372,39,0
chr2	38750260	rs3134630	T	C	367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3134630;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|SRSF7|SRSF7|transcript|NM_001031684.2|protein_coding|1/7|c.29-66A>G||||||,C|intron_variant|MODIFIER|SRSF7|SRSF7|transcript|NM_001195446.1|protein_coding|1/6|c.29-66A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3337;p3_1000G_AF=0.666334;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=16634;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38977402;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:396,36,0
chr2	38751309	rs117377682	T	A	1017.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=1.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.283;SOR=0.471;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117377682;dbSNPBuildID=132;ANN=A|5_prime_UTR_variant|MODIFIER|SRSF7|SRSF7|transcript|NM_001031684.2|protein_coding|1/8|c.-53A>T|||||53|,A|5_prime_UTR_variant|MODIFIER|SRSF7|SRSF7|transcript|NM_001195446.1|protein_coding|1/7|c.-53A>T|||||53|;p3_1000G_AA=T|||;p3_1000G_AC=161;p3_1000G_AF=0.0321486;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14652;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38978451;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2,1382;ESP6500_AA_GTC=0,2,690;ESP6500_CDS_SIZES=NM_001195446.1:681,NM_001031684.2:717;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=91;ESP6500_EA_AC=0,3182;ESP6500_EA_GTC=0,0,1591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001195446.1:utr-5,NM_001031684.2:utr-5;ESP6500_GL=SRSF7;ESP6500_GRCh38_POSITION=2:38751309;ESP6500_GTC=0,2,2281;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001195446.1:c.-53A>T,NM_001031684.2:c.-53A>T;ESP6500_MAF=0.0,0.1445,0.0438;ESP6500_TAC=2,4564	GT:AD:DP:GQ:PL	0/1:32,39:71:99:1046,0,799
chr2	38779461	rs3112201	T	G	389.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.84;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3112201;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|GEMIN6|GEMIN6|transcript|NM_024775.9|protein_coding|2/2|c.128+343T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4534;p3_1000G_AF=0.905351;p3_1000G_AFR_AF=0.6536;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=9042;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39006603;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:418,42,0
chr2	38781981	rs118013416	G	T	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.11;ReadPosRankSum=-0.366;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs118013416;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|GEMIN6|GEMIN6|transcript|NM_024775.9|protein_coding||c.*89G>T|||||17|,T|intergenic_region|MODIFIER|GEMIN6-DHX57|GEMIN6-DHX57|intergenic_region|GEMIN6-DHX57|||n.38781981G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=127;p3_1000G_AF=0.0253594;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20217;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39009123;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0542;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:62:183,0,62
chr2	38798413	rs1530853	G	A	690.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.277;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.552;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1530853;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|DHX57|DHX57|transcript|NM_198963.2|protein_coding|24/24|c.4047C>T|p.Cys1349Cys|4201/4883|4047/4161|1349/1386||,A|synonymous_variant|LOW|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|24/24|c.3741C>T|p.Cys1247Cys|4068/4750|3741/3855|1247/1284||;p3_1000G_AA=G|||;p3_1000G_AC=2945;p3_1000G_AF=0.588059;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=19068;p3_1000G_EAS_AF=0.7857;p3_1000G_EUR_AF=0.6441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39025555;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1603,2803;ESP6500_AA_AGE=496.0+/-363.4;ESP6500_AA_GTC=289,1025,889;ESP6500_CDS_SIZES=NM_198963.1:4161;ESP6500_CG=-10.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=106;ESP6500_EA_AC=5436,3164;ESP6500_EA_AGE=655.0+/-401.2;ESP6500_EA_GTC=1716,2004,580;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198963.1:coding-synonymous;ESP6500_GL=DHX57;ESP6500_GRCh38_POSITION=2:38798413;ESP6500_GTC=2005,3029,1469;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198963.1:c.4047C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198963.1:p.(C1349);ESP6500_MAF=36.7907,36.3822,45.8788;ESP6500_TAC=7039,5967	GT:AD:DP:GQ:PL	0/1:22,30:52:99:719,0,589
chr2	38798490	rs1530852	A	G	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=-1.098;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1530852;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding|23/23|c.4018-48T>C||||||,G|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|23/23|c.3712-48T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=18852;p3_1000G_EAS_AF=0.7867;p3_1000G_EUR_AF=0.6461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39025632;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1576,2830;ESP6500_AA_AGE=485.8+/-360.4;ESP6500_AA_GTC=281,1014,908;ESP6500_CDS_SIZES=NM_198963.1:4161;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=49;ESP6500_EA_AC=5443,3157;ESP6500_EA_AGE=651.2+/-400.8;ESP6500_EA_GTC=1723,1997,580;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198963.1:intron;ESP6500_GL=DHX57;ESP6500_GRCh38_POSITION=2:38798490;ESP6500_GTC=2004,3011,1488;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198963.1:c.4018-48T>C;ESP6500_MAF=36.7093,35.7694,46.0326;ESP6500_TAC=7019,5987	GT:AD:DP:GQ:PL	0/1:9,11:20:99:365,0,228
chr2	38802932	rs13029406	C	T	530.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.508;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.983;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=0.46;SOR=0.252;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13029406;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding|22/23|c.3817-17G>A||||||,T|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|22/23|c.3511-17G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2909;p3_1000G_AF=0.580871;p3_1000G_AFR_AF=0.3026;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=17382;p3_1000G_EAS_AF=0.7857;p3_1000G_EUR_AF=0.6352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39030074;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1547,2859;ESP6500_AA_AGE=484.8+/-360.1;ESP6500_AA_GTC=270,1007,926;ESP6500_CDS_SIZES=NM_198963.1:4161;ESP6500_CG=3.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=80;ESP6500_EA_AC=5390,3210;ESP6500_EA_AGE=651.9+/-400.9;ESP6500_EA_GTC=1695,2000,605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198963.1:intron;ESP6500_GL=DHX57;ESP6500_GRCh38_POSITION=2:38802932;ESP6500_GTC=1965,3007,1531;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198963.1:c.3817-17G>A;ESP6500_MAF=37.3256,35.1112,46.6631;ESP6500_TAC=6937,6069	GT:AD:DP:GQ:PL	0/1:8,20:28:99:559,0,219
chr2	38813703	rs7419838	G	A	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.938;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=1.98;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7419838;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding|21/23|c.3681+118C>T||||||,A|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|21/23|c.3375+118C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1481;p3_1000G_AF=0.295727;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=18320;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.3469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39040845;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,10:16:99:287,0,147
chr2	38815497	rs3112138	G	A	2996.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3112138;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding|20/23|c.3606+24C>T||||||,A|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|20/23|c.3300+24C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4525;p3_1000G_AF=0.903554;p3_1000G_AFR_AF=0.6936;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=20367;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.9911;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39042639;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3294,1112;ESP6500_AA_AGE=400.1+/-331.5;ESP6500_AA_GTC=1218,858,127;ESP6500_CDS_SIZES=NM_198963.1:4161;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=164;ESP6500_EA_AC=8544,56;ESP6500_EA_AGE=36.9+/-92.0;ESP6500_EA_GTC=4244,56,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198963.1:intron;ESP6500_GL=DHX57;ESP6500_GRCh38_POSITION=2:38815497;ESP6500_GTC=5462,914,127;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198963.1:c.3606+24C>T;ESP6500_MAF=0.6512,25.2383,8.9805;ESP6500_TAC=11838,1168	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3025,294,0
chr2	38822877	rs3112146	G	T	259.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3112146;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding|17/23|c.3291+116C>A||||||,T|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|17/23|c.2985+116C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4578;p3_1000G_AF=0.914137;p3_1000G_AFR_AF=0.6868;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=19539;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39050019;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:288,27,0
chr2	38822919	rs34582261;rs796948862	AT	A	511.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.12;SOR=2.448;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34582261;dbSNPBuildID=132,146;ANN=A|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding|17/23|c.3291+73delA||||||,A|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|17/23|c.2985+73delA||||||;p3_1000G_AA=TT|TTT|TT|insertion;p3_1000G_AC=4554;p3_1000G_AF=0.909345;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=18133;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39050061;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:549,45,0
chr2	38822999	rs3770681	A	C	378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.775;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.11;SOR=0.336;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770681;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|DHX57|DHX57|transcript|NM_198963.2|protein_coding|17/24|c.3285T>G|p.Ser1095Ser|3439/4883|3285/4161|1095/1386||,C|synonymous_variant|LOW|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|17/24|c.2979T>G|p.Ser993Ser|3306/4750|2979/3855|993/1284||;p3_1000G_AA=A|||;p3_1000G_AC=3001;p3_1000G_AF=0.599241;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=17536;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.66;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39050141;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6994;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1652,2754;ESP6500_AA_AGE=503.4+/-365.5;ESP6500_AA_GTC=309,1034,860;ESP6500_CDS_SIZES=NM_198963.1:4161;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=63;ESP6500_EA_AC=5586,3014;ESP6500_EA_AGE=662.8+/-402.0;ESP6500_EA_GTC=1824,1938,538;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198963.1:coding-synonymous;ESP6500_GL=DHX57;ESP6500_GRCh38_POSITION=2:38822999;ESP6500_GTC=2133,2972,1398;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_198963.1:c.3285T>G;ESP6500_HGVS_PROTEIN_VAR=NM_198963.1:p.(S1095);ESP6500_MAF=35.0465,37.4943,44.3488;ESP6500_TAC=7238,5768	GT:AD:DP:GQ:PL	0/1:21,14:35:99:407,0,632
chr2	38826403	rs7589162	G	C	415.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.588;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.702;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7589162;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding|15/23|c.2813+113C>G||||||,C|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|15/23|c.2507+113C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2932;p3_1000G_AF=0.585463;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=22020;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.6471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39053545;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,14:22:99:444,0,238
chr2	38843136	rs145593757	C	T	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.48;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.259;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=0.204;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145593757;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|DHX57|DHX57|transcript|NM_198963.2|protein_coding|12/24|c.2294G>A|p.Arg765Gln|2448/4883|2294/4161|765/1386||,T|missense_variant|MODERATE|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|12/24|c.1988G>A|p.Arg663Gln|2315/4750|1988/3855|663/1284||;p3_1000G_AA=C|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19748;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39070278;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_198963.1:4161;ESP6500_CG=4.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=130;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198963.1:missense;ESP6500_GL=DHX57;ESP6500_GRCh38_POSITION=2:38843136;ESP6500_GS=43;ESP6500_GTC=0,1,6502;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198963.1:c.2294G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198963.1:p.(R765Q);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_PH=benign:0.414;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:28,14:42:99:344,0,634
chr2	38855202	rs7598922	T	C	1298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.89;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=1.001;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.691;SOR=0.884;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7598922;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|DHX57|DHX57|transcript|NM_198963.2|protein_coding|8/24|c.1760A>G|p.Asn587Ser|1914/4883|1760/4161|587/1386||,C|missense_variant|MODERATE|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|8/24|c.1454A>G|p.Asn485Ser|1781/4750|1454/3855|485/1284||;p3_1000G_AA=T|||;p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=15761;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.6342;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39082344;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1533,2873;ESP6500_AA_AGE=483.9+/-359.9;ESP6500_AA_GTC=279,975,949;ESP6500_CDS_SIZES=NM_198963.1:4161;ESP6500_CG=1.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=141;ESP6500_EA_AC=5437,3163;ESP6500_EA_AGE=655.2+/-401.2;ESP6500_EA_GTC=1722,1993,585;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198963.1:missense;ESP6500_GL=DHX57;ESP6500_GRCh38_POSITION=2:38855202;ESP6500_GS=46;ESP6500_GTC=2001,2968,1534;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198963.1:c.1760A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198963.1:p.(N587S);ESP6500_MAF=36.7791,34.7935,46.4093;ESP6500_PH=benign:0.002;ESP6500_TAC=6970,6036	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1327,0,770
chr2	38863554	rs3099999	T	C	1113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.81;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3099999;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding|2/23|c.225-35A>G||||||,C|intron_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding|2/23|c.-82-35A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4955;p3_1000G_AF=0.989417;p3_1000G_AFR_AF=0.9607;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=19507;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39090696;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4284,122;ESP6500_AA_AGE=90.6+/-129.3;ESP6500_AA_GTC=2083,118,2;ESP6500_CDS_SIZES=NM_198963.1:4161;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=125;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198963.1:intron;ESP6500_GL=DHX57;ESP6500_GRCh38_POSITION=2:38863554;ESP6500_GTC=6383,118,2;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198963.1:c.225-35A>G;ESP6500_MAF=0.0,2.769,0.938;ESP6500_TAC=12884,122	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1142,96,0
chr2	38880700	rs3213986	T	C	631.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.604;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.236;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.108;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213986;dbSNPBuildID=106;ANN=C|5_prime_UTR_variant|MODIFIER|MORN2|MORN2|transcript|NM_001145450.1|protein_coding|3/5|c.-7T>C|||||742|,C|upstream_gene_variant|MODIFIER|DHX57|DHX57|transcript|NM_198963.2|protein_coding||c.-12295A>G|||||4766|,C|upstream_gene_variant|MODIFIER|DHX57|DHX57|transcript|NM_001329963.1|protein_coding||c.-17263A>G|||||4766|;p3_1000G_AA=T|||;p3_1000G_AC=197;p3_1000G_AF=0.0393371;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=17037;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39107841;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,31:49:99:660,0,390
chr2	38881632	rs3099948	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.471;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3099948;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|MORN2|MORN2|transcript|NM_001145450.1|protein_coding|4/4|c.137+54A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=961;p3_1000G_AF=0.191893;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=16135;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.3082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39108773;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:255,0,214
chr2	38889976	rs7565111	G	A	570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7565111;dbSNPBuildID=116;ANN=A|intergenic_region|MODIFIER|MORN2-ARHGEF33|MORN2-ARHGEF33|intergenic_region|MORN2-ARHGEF33|||n.38889976G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3130;p3_1000G_AF=0.625;p3_1000G_AFR_AF=0.3994;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=16138;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39117117;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:599,57,0
chr2	38931142	rs200876825	C	T	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.108;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.024;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200876825;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|ARHGEF33|ARHGEF33|transcript|NM_001145451.2|protein_coding|5/16|c.396C>T|p.Ala132Ala|481/4304|396/2613|132/870||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17154;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39158283;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,16:31:99:363,0,412
chr2	38960049	rs6755527	T	C	1685.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.13;SOR=1.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6755527;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|ARHGEF33|ARHGEF33|transcript|NM_001145451.2|protein_coding|14/16|c.1744T>C|p.Ser582Pro|1829/4304|1744/2613|582/870||,C|non_coding_transcript_exon_variant|MODIFIER|LOC375196|LOC375196|transcript|NR_028386.1|pseudogene|1/1|n.296A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4592;p3_1000G_AF=0.916933;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.9481;p3_1000G_AN=5008;p3_1000G_DP=12497;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.9354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39187190;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1335,45;ESP6500_AA_GTC=645,45,0;ESP6500_CDS_SIZES=NM_001145451.2:2613;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=13;ESP6500_EA_AC=2968,210;ESP6500_EA_GTC=1387,194,8;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001145451.2:missense;ESP6500_GL=ARHGEF33;ESP6500_GRCh38_POSITION=2:38960049;ESP6500_GS=74;ESP6500_GTC=2032,239,8;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001145451.2:c.1744T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001145451.2:p.(S582P);ESP6500_MAF=6.6079,3.2609,5.5946;ESP6500_PH=benign:0.0;ESP6500_TAC=4303,255	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1714,129,0
chr2	38960378	rs958412	A	G	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.269;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.2;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs958412;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ARHGEF33|ARHGEF33|transcript|NM_001145451.2|protein_coding|14/16|c.2073A>G|p.Lys691Lys|2158/4304|2073/2613|691/870||,G|upstream_gene_variant|MODIFIER|LOC375196|LOC375196|transcript|NR_028386.1|pseudogene||n.-34T>C|||||34|;p3_1000G_AA=G|||;p3_1000G_AC=4508;p3_1000G_AF=0.90016;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.9481;p3_1000G_AN=5008;p3_1000G_DP=7469;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.9354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39187519;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:254,0,253
chr2	38971825	rs2305516	A	G	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.578;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305516;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ARHGEF33|ARHGEF33|transcript|NM_001145451.2|protein_coding|15/15|c.2484-1889A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4503;p3_1000G_AF=0.899161;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=18587;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.9364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39198966;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1324,60;ESP6500_AA_GTC=634,56,2;ESP6500_CDS_SIZES=NM_001145451.2:2613;ESP6500_CG=-0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=125;ESP6500_EA_AC=2968,214;ESP6500_EA_GTC=1385,198,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145451.2:intron;ESP6500_GL=ARHGEF33;ESP6500_GRCh38_POSITION=2:38971825;ESP6500_GTC=2019,254,10;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001145451.2:c.2484-1889A>G;ESP6500_MAF=6.7253,4.3353,6.0009;ESP6500_TAC=4292,274	GT:AD:DP:GQ:PL	0/1:29,20:49:99:521,0,750
chr2	38987680	rs2290445	A	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290445;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SOS1|SOS1|transcript|NM_005633.3|protein_coding|21/22|c.3392-89T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4519;p3_1000G_AF=0.902356;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=17273;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.9374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39214821;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:95:112,0,95
chr2	38997210	rs1454223;259848	G	T	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.338;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.984;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1454223;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|SOS1|SOS1|transcript|NM_005633.3|protein_coding|18/22|c.2964+43C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4508;p3_1000G_AF=0.90016;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=15333;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.9364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39224351;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4237,159;ESP6500_AA_AGE=102.1+/-140.7;ESP6500_AA_GTC=2044,149,5;ESP6500_CDS_SIZES=NM_005633.3:4002;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=51;ESP6500_EA_AC=8044,542;ESP6500_EA_AGE=144.7+/-200.5;ESP6500_EA_GTC=3765,514,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005633.3:intron;ESP6500_GL=SOS1;ESP6500_GRCh38_POSITION=2:38997210;ESP6500_GTC=5809,663,19;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005633.3:c.2964+43C>A;ESP6500_MAF=6.3126,3.6169,5.3998;ESP6500_TAC=12281,701;CLINVAR_ALLELEID=250731;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.38997210G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SOS1:6654;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1454223	GT:AD:DP:GQ:PL	0/1:11,9:20:99:253,0,335
chr2	38997474	rs1393556122;rs869215095;rs5830551;259847	G	GT	136.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.947;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.415;SOR=0.859;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5830551;dbSNPBuildID=151,136;ANN=GT|intron_variant|MODIFIER|SOS1|SOS1|transcript|NM_005633.3|protein_coding|17/22|c.2792-50dupA||||||;p3_1000G_AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;p3_1000G_AC=3946;p3_1000G_AF=0.787939;p3_1000G_AFR_AF=0.5703;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=14597;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.9354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39224615;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.818;p3_1000G_VT=INDEL;ESP6500_AA_AC=2671,1589;ESP6500_AA_GTC=861,949,320;ESP6500_CDS_SIZES=NM_005633.3:4002;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=29;ESP6500_EA_AC=7681,555;ESP6500_EA_GTC=3582,517,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005633.3:intron;ESP6500_GL=SOS1;ESP6500_GRCh38_POSITION=2:38997474;ESP6500_GTC=4443,1466,339;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005633.3:c.2792-50_2792-49insA;ESP6500_MAF=6.7387,37.3005,17.1575;ESP6500_TAC=10352,2144;CLINVAR_ALLELEID=250733;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.38997475dupT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_GENEINFO=SOS1:6654;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=869215095	GT:AD:DP:GQ:PL	0/1:6,7:13:99:174,0,144
chr2	39006359	rs7577088;180170	G	A	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.15;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=0.874;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7577088;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SOS1|SOS1|transcript|NM_005633.3|protein_coding|17/22|c.2791+53C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4533;p3_1000G_AF=0.905152;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=15529;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.9334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39233500;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.818;p3_1000G_VT=SNP;CLINVAR_ALLELEID=178349;CLINVAR_CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006;CLINVAR_CLNDN=Noonan_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.39006359G>A;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SOS1:6654;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=0;CLINVAR_RS=7577088	GT:AD:DP:GQ:PL	0/1:8,6:14:99:129,0,194
chr2	39013823	rs111576630;259843	A	G	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.972;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111576630;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|SOS1|SOS1|transcript|NM_005633.3|protein_coding|12/22|c.2063+44T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=33;p3_1000G_AF=0.00658946;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17190;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39240964;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_005633.3:4002;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=47;ESP6500_EA_AC=1,8595;ESP6500_EA_GTC=0,1,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005633.3:intron;ESP6500_GL=SOS1;ESP6500_GRCh38_POSITION=2:39013823;ESP6500_GTC=0,3,6498;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005633.3:c.2063+44T>C;ESP6500_MAF=0.0116,0.0454,0.0231;ESP6500_TAC=3,12999;CLINVAR_AF_ESP=0.0002;CLINVAR_AF_EXAC=0.00349;CLINVAR_AF_TGP=0.0066;CLINVAR_ALLELEID=250736;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.39013823A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SOS1:6654;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=111576630	GT:AD:DP:GQ:PL	0/1:8,6:14:99:169,0,271
chr2	39054589	rs997344;180179	G	C	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.559;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.085;SOR=0.069;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs997344;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SOS1|SOS1|transcript|NM_005633.3|protein_coding|5/22|c.720+25C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4464;p3_1000G_AF=0.891374;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=16872;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39281730;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4262,134;ESP6500_AA_GTC=2067,128,3;ESP6500_CDS_SIZES=NM_005633.3:4002;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=26;ESP6500_EA_AC=7901,679;ESP6500_EA_GTC=3637,627,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005633.3:intron;ESP6500_GL=SOS1;ESP6500_GRCh38_POSITION=2:39054589;ESP6500_GTC=5704,755,29;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_005633.3:c.720+25C>G;ESP6500_MAF=7.9138,3.0482,6.2654;ESP6500_TAC=12163,813;CLINVAR_ALLELEID=178351;CLINVAR_CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374;CLINVAR_CLNDN=Noonan_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.39054589G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SOS1:6654;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=997344	GT:AD:DP:GQ:PL	0/1:4,5:9:99:149,0,144
chr2	39058544	rs377187845	G	A	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.524;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs377187845;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|SOS1|SOS1|transcript|NM_005633.3|protein_coding|3/22|c.345+129C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=31;p3_1000G_AF=0.0061901;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17918;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39285685;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:57:57,0,108
chr2	39184722	rs141702509;rs199817385;rs775491533	A	ATG	111.84	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=0.674;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141702509;dbSNPBuildID=134,137,144;ANN=ATG|intron_variant|MODIFIER|CDKL4|CDKL4|transcript|NM_001009565.1|protein_coding|6/7|c.736-77_736-76dupCA||||||	GT:AD:DP:GQ:PL	0/1:1,5:6:16:149,0,16
chr2	39225720	rs11124663	C	T	149.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.97;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11124663;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CDKL4|CDKL4|transcript|NM_001009565.1|protein_coding|2/7|c.290+119G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3340;p3_1000G_AF=0.666933;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=16200;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.9016;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39452861;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:178,18,0
chr2	39251981	rs3770678	G	C	143.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3770678;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|32/33|c.2542-96C>G||||||,C|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|31/32|c.2479-96C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4262;p3_1000G_AF=0.851038;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=18525;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.9235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39479122;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:171,12,0
chr2	39267328	rs10865149	C	G	660.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10865149;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|26/33|c.1974-81G>C||||||,G|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|25/32|c.1911-81G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4252;p3_1000G_AF=0.849042;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=18644;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.9215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39494469;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:689,51,0
chr2	39272473	rs17023530	T	A	296.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.68;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17023530;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|25/33|c.1855+9A>T||||||,A|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|24/32|c.1792+9A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=390;p3_1000G_AF=0.0778754;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=16849;p3_1000G_EAS_AF=0.0506;p3_1000G_EUR_AF=0.0417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39499614;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=650,3752;ESP6500_AA_AGE=719.5+/-408.9;ESP6500_AA_GTC=47,556,1598;ESP6500_CDS_SIZES=NM_003618.3:2685,NM_001270425.1:2622;ESP6500_CG=4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=61;ESP6500_EA_AC=421,8169;ESP6500_EA_AGE=787.4+/-407.6;ESP6500_EA_GTC=8,405,3882;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003618.3:intron,NM_001270425.1:intron;ESP6500_GL=MAP4K3;ESP6500_GRCh38_POSITION=2:39272473;ESP6500_GTC=55,961,5480;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_003618.3:c.1855+9A>T,NM_001270425.1:c.1792+9A>T;ESP6500_MAF=4.901,14.766,8.2435;ESP6500_TAC=1071,11921	GT:AD:DP:GQ:PL	1/1:0,10:10:30:325,30,0
chr2	39299701	rs2111382	A	C	113.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.78;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2111382;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|16/33|c.1178+42T>G||||||,C|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|15/32|c.1115+42T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4745;p3_1000G_AF=0.947484;p3_1000G_AFR_AF=0.8064;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=12528;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39526842;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3798,554;ESP6500_AA_GTC=1649,500,27;ESP6500_CDS_SIZES=NM_003618.3:2685,NM_001270425.1:2622;ESP6500_CG=0.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=17;ESP6500_EA_AC=8519,7;ESP6500_EA_GTC=4256,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003618.3:intron,NM_001270425.1:intron;ESP6500_GL=MAP4K3;ESP6500_GRCh38_POSITION=2:39299701;ESP6500_GTC=5905,507,27;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_003618.3:c.1178+42T>G,NM_001270425.1:c.1115+42T>G;ESP6500_MAF=0.0821,12.7298,4.3563;ESP6500_TAC=12317,561	GT:AD:DP:GQ:PL	1/1:0,5:5:15:142,15,0
chr2	39326130	rs3815594	A	G	1344.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=1.501;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3815594;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|9/33|c.662+16T>C||||||,G|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|9/32|c.662+16T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.6104;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=17441;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.9026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39553271;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3026,1380;ESP6500_AA_AGE=689.0+/-405.1;ESP6500_AA_GTC=1057,912,234;ESP6500_CDS_SIZES=NM_003618.3:2685,NM_001270425.1:2622;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=98;ESP6500_EA_AC=7724,876;ESP6500_EA_AGE=778.9+/-407.7;ESP6500_EA_GTC=3476,772,52;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003618.3:intron,NM_001270425.1:intron;ESP6500_GL=MAP4K3;ESP6500_GRCh38_POSITION=2:39326130;ESP6500_GTC=4533,1684,286;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003618.3:c.662+16T>C,NM_001270425.1:c.662+16T>C;ESP6500_MAF=10.186,31.3209,17.3458;ESP6500_TAC=10750,2256	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1373,123,0
chr2	39331787	rs6760382	G	A	81.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6760382;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|8/33|c.530+130C>T||||||,A|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|8/32|c.530+130C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4229;p3_1000G_AF=0.844449;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=16989;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39558928;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:109,9,0
chr2	39337479	rs1125839	C	A	368.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1125839;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|5/33|c.366+47G>T||||||,A|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|5/32|c.366+47G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4251;p3_1000G_AF=0.848842;p3_1000G_AFR_AF=0.7995;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=15177;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.9215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39564620;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3659,745;ESP6500_AA_AGE=301.5+/-286.9;ESP6500_AA_GTC=1529,601,72;ESP6500_CDS_SIZES=NM_003618.3:2685,NM_001270425.1:2622;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=78;ESP6500_EA_AC=7882,704;ESP6500_EA_AGE=172.3+/-223.0;ESP6500_EA_GTC=3624,634,35;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003618.3:intron,NM_001270425.1:intron;ESP6500_GL=MAP4K3;ESP6500_GRCh38_POSITION=2:39337479;ESP6500_GTC=5153,1235,107;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_003618.3:c.366+47G>T,NM_001270425.1:c.366+47G>T;ESP6500_MAF=8.1994,16.9164,11.1547;ESP6500_TAC=11541,1449	GT:AD:DP:GQ:PL	1/1:0,13:13:39:397,39,0
chr2	39343286	rs3732053	T	C	547.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3732053;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|4/33|c.310+102A>G||||||,C|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|4/32|c.310+102A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3470;p3_1000G_AF=0.692891;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=17016;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.9016;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39570427;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:576,48,0
chr2	39356305	rs8545	A	G	1581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8545;dbSNPBuildID=102;ANN=G|synonymous_variant|LOW|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|3/34|c.189T>C|p.Ile63Ile|514/4362|189/2685|63/894||,G|synonymous_variant|LOW|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|3/33|c.189T>C|p.Ile63Ile|514/4299|189/2622|63/873||;p3_1000G_AA=A|||;p3_1000G_AC=3466;p3_1000G_AF=0.692093;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=17698;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.9026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39583446;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1836,2570;ESP6500_AA_AGE=533.4+/-373.7;ESP6500_AA_GTC=402,1032,769;ESP6500_CDS_SIZES=NM_003618.3:2685,NM_001270425.1:2622;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=185;ESP6500_EA_AC=7706,888;ESP6500_EA_AGE=777.5+/-407.7;ESP6500_EA_GTC=3463,780,54;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003618.3:coding-synonymous,NM_001270425.1:coding-synonymous;ESP6500_GL=MAP4K3;ESP6500_GRCh38_POSITION=2:39356305;ESP6500_GTC=3865,1812,823;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003618.3:c.189T>C,NM_001270425.1:c.189T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003618.3:p.(I63),NM_001270425.1:p.(I63);ESP6500_MAF=10.3328,41.6704,26.6;ESP6500_TAC=9542,3458	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1610,159,0
chr2	39377937	rs369743034	T	C	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=0.771;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369743034;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|2/33|c.154+129A>G||||||,C|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|2/32|c.154+129A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18955;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39605078;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:136,0,241
chr2	39436869	rs113021812	C	T	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.93;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs113021812;dbSNPBuildID=132;ANN=T|upstream_gene_variant|MODIFIER|LOC728730|LOC728730|transcript|NR_037875.1|pseudogene||n.-547C>T|||||547|,T|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_003618.3|protein_coding|1/33|c.96+23G>A||||||,T|intron_variant|MODIFIER|MAP4K3|MAP4K3|transcript|NM_001270425.1|protein_coding|1/32|c.96+23G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=241;p3_1000G_AF=0.048123;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=9653;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.0408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39664010;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=225,3643;ESP6500_AA_GTC=16,193,1725;ESP6500_CDS_SIZES=NM_003618.3:2685,NM_001270425.1:2622;ESP6500_CG=0.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=7;ESP6500_EA_AC=411,7427;ESP6500_EA_GTC=23,365,3531;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003618.3:intron,NM_001270425.1:intron;ESP6500_GL=MAP4K3;ESP6500_GRCh38_POSITION=2:39436869;ESP6500_GTC=39,558,5256;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003618.3:c.96+23G>A,NM_001270425.1:c.96+23G>A;ESP6500_MAF=5.2437,5.817,5.4331;ESP6500_TAC=636,11070	GT:AD:DP:GQ:PL	1/1:0,18:18:54:513,54,0
chr2	39716915	rs2540229	G	A	343.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2540229;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TMEM178A|TMEM178A|transcript|NM_152390.2|protein_coding|3/3|c.653-95G>A||||||,A|intron_variant|MODIFIER|TMEM178A|TMEM178A|transcript|NM_001167959.1|protein_coding|3/3|c.107-95G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3419;p3_1000G_AF=0.682708;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=17687;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.4602;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39944055;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:372,30,0
chr2	39751222	rs6750252	T	G	1553.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=2.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6750252;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_025264.4|protein_coding|8/9|c.1078+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321468.1|protein_coding|8/10|c.1079-32A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321469.1|protein_coding|8/9|c.799+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321470.1|protein_coding|8/9|c.751+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321474.1|protein_coding|7/8|c.963+4667A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321475.1|protein_coding|8/10|c.800-32A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321477.1|protein_coding|9/10|c.376+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321478.1|protein_coding|9/10|c.376+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321479.1|protein_coding|7/8|c.376+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321480.1|protein_coding|9/10|c.376+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321481.1|protein_coding|9/10|c.376+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_028102.1|pseudogene|9/10|n.1236+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135659.1|pseudogene|10/11|n.1527+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135660.1|pseudogene|10/11|n.1429+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135661.1|pseudogene|10/11|n.1517+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135662.1|pseudogene|9/10|n.1226+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135663.1|pseudogene|8/9|n.826+4073A>C||||||,G|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135664.1|pseudogene|10/11|n.1419+4073A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3512;p3_1000G_AF=0.701278;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=18583;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.5795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39978362;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1582,141,0
chr2	39766027	rs4670959	T	C	876.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4670959;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_025264.4|protein_coding|5/9|c.803+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321468.1|protein_coding|5/10|c.803+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321469.1|protein_coding|5/9|c.524+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321470.1|protein_coding|5/9|c.476+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321474.1|protein_coding|5/8|c.803+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321475.1|protein_coding|5/10|c.524+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321477.1|protein_coding|6/10|c.101+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321478.1|protein_coding|6/10|c.101+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321479.1|protein_coding|4/8|c.101+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321480.1|protein_coding|6/10|c.101+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321481.1|protein_coding|6/10|c.101+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_028102.1|pseudogene|5/10|n.840+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135659.1|pseudogene|6/11|n.1131+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135660.1|pseudogene|6/11|n.1033+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135661.1|pseudogene|6/11|n.1121+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135662.1|pseudogene|5/10|n.830+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135663.1|pseudogene|4/9|n.430+30A>G||||||,C|intron_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135664.1|pseudogene|6/11|n.1023+30A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2339;p3_1000G_AF=0.467053;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=16333;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.4602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39993167;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=995,3411;ESP6500_AA_AGE=370.5+/-319.6;ESP6500_AA_GTC=106,783,1314;ESP6500_CDS_SIZES=NM_025264.4:1512;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=89;ESP6500_EA_AC=3871,4725;ESP6500_EA_AGE=541.1+/-383.9;ESP6500_EA_GTC=888,2095,1315;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025264.4:intron;ESP6500_GL=THUMPD2;ESP6500_GRCh38_POSITION=2:39766027;ESP6500_GTC=994,2878,2629;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_025264.4:c.803+30A>G;ESP6500_MAF=45.0326,22.5828,37.425;ESP6500_TAC=4866,8136	GT:AD:DP:GQ:PL	1/1:0,31:31:93:905,93,0
chr2	39779228	rs371296499	C	A	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.994;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.603;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-1.637;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371296499;dbSNPBuildID=138;ANN=A|synonymous_variant|LOW|THUMPD2|THUMPD2|transcript|NM_025264.4|protein_coding|1/10|c.12G>T|p.Ala4Ala|49/2224|12/1512|4/503||,A|synonymous_variant|LOW|THUMPD2|THUMPD2|transcript|NM_001321468.1|protein_coding|1/11|c.12G>T|p.Ala4Ala|49/2322|12/1248|4/415||,A|synonymous_variant|LOW|THUMPD2|THUMPD2|transcript|NM_001321474.1|protein_coding|1/9|c.12G>T|p.Ala4Ala|49/2109|12/1035|4/344||,A|5_prime_UTR_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321469.1|protein_coding|1/10|c.-258G>T|||||9126|,A|5_prime_UTR_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321470.1|protein_coding|1/10|c.-258G>T|||||9126|,A|5_prime_UTR_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321475.1|protein_coding|1/11|c.-258G>T|||||9126|,A|5_prime_UTR_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321477.1|protein_coding|1/11|c.-874G>T|||||10757|,A|5_prime_UTR_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321478.1|protein_coding|1/11|c.-982G>T|||||10757|,A|5_prime_UTR_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321479.1|protein_coding|1/9|c.-281G>T|||||10757|,A|5_prime_UTR_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321480.1|protein_coding|1/11|c.-972G>T|||||10757|,A|5_prime_UTR_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321481.1|protein_coding|1/11|c.-884G>T|||||10757|,A|non_coding_transcript_exon_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_028102.1|pseudogene|1/11|n.49G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135659.1|pseudogene|1/12|n.49G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135660.1|pseudogene|1/12|n.49G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135661.1|pseudogene|1/12|n.49G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135662.1|pseudogene|1/11|n.49G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135663.1|pseudogene|1/10|n.49G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135664.1|pseudogene|1/12|n.49G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=63;p3_1000G_AF=0.0125799;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=9474;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40006368;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:211,0,392
chr2	39779290	rs12620957	A	C	357.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12620957;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_025264.4|protein_coding||c.-51T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321468.1|protein_coding||c.-51T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321469.1|protein_coding||c.-9188T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321470.1|protein_coding||c.-9188T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321474.1|protein_coding||c.-51T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321475.1|protein_coding||c.-9188T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321477.1|protein_coding||c.-10819T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321478.1|protein_coding||c.-10819T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321479.1|protein_coding||c.-10819T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321480.1|protein_coding||c.-10819T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321481.1|protein_coding||c.-10819T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_028102.1|pseudogene||n.-14T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135659.1|pseudogene||n.-14T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135660.1|pseudogene||n.-14T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135661.1|pseudogene||n.-14T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135662.1|pseudogene||n.-14T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135663.1|pseudogene||n.-14T>G|||||14|,C|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135664.1|pseudogene||n.-14T>G|||||14|,C|intergenic_region|MODIFIER|THUMPD2-SLC8A1-AS1|THUMPD2-SLC8A1-AS1|intergenic_region|THUMPD2-SLC8A1-AS1|||n.39779290A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2880;p3_1000G_AF=0.57508;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=8211;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.4632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40006430;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:39779290_A_C:386,27,0
chr2	39779302	rs35761077	C	T	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35761077;dbSNPBuildID=126;ANN=T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_025264.4|protein_coding||c.-63G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321468.1|protein_coding||c.-63G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321469.1|protein_coding||c.-9200G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321470.1|protein_coding||c.-9200G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321474.1|protein_coding||c.-63G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321475.1|protein_coding||c.-9200G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321477.1|protein_coding||c.-10831G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321478.1|protein_coding||c.-10831G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321479.1|protein_coding||c.-10831G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321480.1|protein_coding||c.-10831G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NM_001321481.1|protein_coding||c.-10831G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_028102.1|pseudogene||n.-26G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135659.1|pseudogene||n.-26G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135660.1|pseudogene||n.-26G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135661.1|pseudogene||n.-26G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135662.1|pseudogene||n.-26G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135663.1|pseudogene||n.-26G>A|||||26|,T|upstream_gene_variant|MODIFIER|THUMPD2|THUMPD2|transcript|NR_135664.1|pseudogene||n.-26G>A|||||26|,T|intergenic_region|MODIFIER|THUMPD2-SLC8A1-AS1|THUMPD2-SLC8A1-AS1|intergenic_region|THUMPD2-SLC8A1-AS1|||n.39779302C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2376;p3_1000G_AF=0.474441;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=7752;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.4632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40006442;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:39779290_A_C:270,18,0
chr2	40175135	rs6734847	G	A	183.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.5;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.241;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6734847;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SLC8A1-AS1|SLC8A1-AS1|transcript|NR_038441.1|pseudogene|3/4|n.121+70173G>A||||||,A|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_021097.2|protein_coding|3/9|c.1936+126C>T||||||,A|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112800.1|protein_coding|3/8|c.1936+126C>T||||||,A|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112801.1|protein_coding|2/7|c.1913-293C>T||||||,A|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001252624.1|protein_coding|2/8|c.1913-293C>T||||||,A|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112802.1|protein_coding|3/7|c.1913-293C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2570;p3_1000G_AF=0.513179;p3_1000G_AFR_AF=0.5734;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=20062;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40402275;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:212,0,255
chr2	40177699	rs433572	C	T	1401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs433572;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|SLC8A1-AS1|SLC8A1-AS1|transcript|NR_038441.1|pseudogene|3/4|n.121+72737C>T||||||,T|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_021097.2|protein_coding|2/9|c.1915+688G>A||||||,T|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112800.1|protein_coding|2/8|c.1915+688G>A||||||,T|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112801.1|protein_coding|2/7|c.1912+53G>A||||||,T|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001252624.1|protein_coding|2/8|c.1912+53G>A||||||,T|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112802.1|protein_coding|3/7|c.1912+53G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2489;p3_1000G_AF=0.497005;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=20933;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.7435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40404839;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1430,135,0
chr2	40428423	rs3838567;rs61260348;rs773789678	CCACA	C	286.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.335;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.89;ReadPosRankSum=0.163;SOR=0.197;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3838567,rs61260348,rs72117010;dbSNPBuildID=107,144,129;ANN=C|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_021097.2|protein_coding|1/9|c.1808+46_1808+49delTGTG||||||,C|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112800.1|protein_coding|1/8|c.1808+46_1808+49delTGTG||||||,C|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112801.1|protein_coding|1/7|c.1808+46_1808+49delTGTG||||||,C|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001252624.1|protein_coding|1/8|c.1808+46_1808+49delTGTG||||||,C|intron_variant|MODIFIER|SLC8A1|SLC8A1|transcript|NM_001112802.1|protein_coding|2/7|c.1808+46_1808+49delTGTG||||||	GT:AD:DP:GQ:PL	0/1:4,8:12:99:324,0,174
chr2	42048679	rs11897440	T	C	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=9.625;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.316;SOR=2.464;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11897440;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|PKDCC|PKDCC|transcript|NM_138370.2|protein_coding|1/7|c.480T>C|p.Gly160Gly|659/2501|480/1482|160/493||;p3_1000G_AA=C|||;p3_1000G_AC=2998;p3_1000G_AF=0.598642;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=9651;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42275819;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1041,283;ESP6500_AA_GTC=419,203,40;ESP6500_CDS_SIZES=NM_138370.2:1482;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=7;ESP6500_EA_AC=1311,1805;ESP6500_EA_GTC=320,671,567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138370.2:coding-synonymous;ESP6500_GL=PKDCC;ESP6500_GRCh38_POSITION=2:42048679;ESP6500_GTC=739,874,607;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138370.2:c.480T>C;ESP6500_HGVS_PROTEIN_VAR=NM_138370.2:p.(G160);ESP6500_MAF=42.0732,21.3746,47.027;ESP6500_TAC=2352,2088	GT:AD:DP:GQ:PL	0/1:16,11:27:99:315,0,377
chr2	42057744	rs1044305	T	C	632.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.508;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1044305;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|PKDCC|PKDCC|transcript|NM_138370.2|protein_coding|7/7|c.*56T>C|||||56|;p3_1000G_AA=T|||;p3_1000G_AC=1347;p3_1000G_AF=0.26897;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=20977;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42284884;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=379,1005;ESP6500_AA_GTC=53,273,366;ESP6500_CDS_SIZES=NM_138370.2:1482;ESP6500_CG=-4.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=27;ESP6500_EA_AC=412,2770;ESP6500_EA_GTC=26,360,1205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138370.2:utr-3;ESP6500_GL=PKDCC;ESP6500_GRCh38_POSITION=2:42057744;ESP6500_GTC=79,633,1571;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138370.2:c.*56T>C;ESP6500_MAF=12.9478,27.3844,17.3237;ESP6500_TAC=791,3775	GT:AD:DP:GQ:PL	1/1:0,21:21:63:661,63,0
chr2	42169582	rs7233	A	G	752.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7233;dbSNPBuildID=52;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|EML4|EML4|transcript|NM_019063.4|protein_coding|1/23|c.-30A>G||||||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|EML4|EML4|transcript|NM_001145076.2|protein_coding|1/22|c.-30A>G||||||,G|5_prime_UTR_variant|MODIFIER|EML4|EML4|transcript|NM_019063.4|protein_coding|1/23|c.-30A>G|||||30|,G|5_prime_UTR_variant|MODIFIER|EML4|EML4|transcript|NM_001145076.2|protein_coding|1/22|c.-30A>G|||||30|,G|intron_variant|MODIFIER|LOC102723824|LOC102723824|transcript|NR_110584.1|pseudogene|1/3|n.262+388T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3500;p3_1000G_AF=0.698882;p3_1000G_AFR_AF=0.7262;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=10306;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.67;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42396722;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3281,1125;ESP6500_AA_AGE=388.9+/-327.1;ESP6500_AA_GTC=1229,823,151;ESP6500_CDS_SIZES=NM_019063.3:2946,NM_001145076.1:2772;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=34;ESP6500_EA_AC=5922,2678;ESP6500_EA_AGE=421.1+/-353.6;ESP6500_EA_GTC=2046,1830,424;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019063.3:utr-5,NM_001145076.1:utr-5;ESP6500_GL=EML4;ESP6500_GRCh38_POSITION=2:42169582;ESP6500_GTC=3275,2653,575;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019063.3:c.-30A>G,NM_001145076.1:c.-30A>G;ESP6500_MAF=31.1395,25.5334,29.2404;ESP6500_TAC=9203,3803	GT:AD:DP:GQ:PL	1/1:0,24:24:72:781,72,0
chr2	42263398	rs67401314	CTT	C	52.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67401314;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|EML4|EML4|transcript|NM_019063.4|protein_coding|5/22|c.641+116_641+117delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EML4|EML4|transcript|NM_001145076.2|protein_coding|4/21|c.467+116_467+117delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0
chr2	42282878	rs6736913	A	G	1676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=0.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6736913;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|EML4|EML4|transcript|NM_019063.4|protein_coding|8/23|c.847A>G|p.Lys283Glu|1121/5561|847/2946|283/981||,G|missense_variant|MODERATE|EML4|EML4|transcript|NM_001145076.2|protein_coding|7/22|c.673A>G|p.Lys225Glu|947/5387|673/2772|225/923||;p3_1000G_AA=G|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18022;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42510018;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4390,16;ESP6500_AA_AGE=23.3+/-48.9;ESP6500_AA_GTC=2187,16,0;ESP6500_CDS_SIZES=NM_019063.3:2946,NM_001145076.1:2772;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=134;ESP6500_EA_AC=8455,145;ESP6500_EA_AGE=70.3+/-132.9;ESP6500_EA_GTC=4156,143,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019063.3:missense,NM_001145076.1:missense;ESP6500_GL=EML4;ESP6500_GRCh38_POSITION=2:42282878;ESP6500_GS=56,56;ESP6500_GTC=6343,159,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019063.3:c.847A>G,NM_001145076.1:c.673A>G;ESP6500_HGVS_PROTEIN_VAR=NM_019063.3:p.(K283E),NM_001145076.1:p.(K225E);ESP6500_MAF=1.686,0.3631,1.2379;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12845,161	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1705,158,0
chr2	42288248	rs10202624	A	G	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-1.274;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10202624;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|EML4|EML4|transcript|NM_019063.4|protein_coding|11/23|c.1144A>G|p.Ile382Val|1418/5561|1144/2946|382/981||,G|missense_variant|MODERATE|EML4|EML4|transcript|NM_001145076.2|protein_coding|10/22|c.970A>G|p.Ile324Val|1244/5387|970/2772|324/923||;p3_1000G_AA=G|||;p3_1000G_AC=4275;p3_1000G_AF=0.853634;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=17722;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.8986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42515388;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4161,245;ESP6500_AA_AGE=140.0+/-175.5;ESP6500_AA_GTC=1970,221,12;ESP6500_CDS_SIZES=NM_019063.3:2946,NM_001145076.1:2772;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=141;ESP6500_EA_AC=7768,830;ESP6500_EA_AGE=190.6+/-237.0;ESP6500_EA_GTC=3503,762,34;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019063.3:missense,NM_001145076.1:missense;ESP6500_GL=EML4;ESP6500_GRCh38_POSITION=2:42288248;ESP6500_GS=29,29;ESP6500_GTC=5473,983,46;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019063.3:c.1144A>G,NM_001145076.1:c.970A>G;ESP6500_HGVS_PROTEIN_VAR=NM_019063.3:p.(I382V),NM_001145076.1:p.(I324V);ESP6500_MAF=9.6534,5.5606,8.2667;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11929,1075	GT:AD:DP:GQ:PL	0/1:24,15:39:99:348,0,537
chr2	42492720	rs112592817;rs386390060	G	GC	266.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=1.329;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs112592817;dbSNPBuildID=132,138;ANN=GC|upstream_gene_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding||c.-86459_-86458insC|||||1848|,GC|intron_variant|MODIFIER|KCNG3|KCNG3|transcript|NM_133329.5|protein_coding|1/1|c.665+116dupG||||||,GC|intron_variant|MODIFIER|KCNG3|KCNG3|transcript|NM_172344.2|protein_coding|1/1|c.632+149dupG||||||;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=4996;p3_1000G_AF=0.997604;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=12609;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42719860;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:21:304,21,0
chr2	42568814	rs78106475	T	C	186.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78106475;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|2/17|c.-140-1623T>C||||||,C|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|1/16|c.-141+588T>C||||||,C|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_020744.3|protein_coding|1/13|c.28+41T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=3884;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42795954;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:215,18,0
chr2	42609376	rs6720277	A	G	926.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.07;SOR=4.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6720277;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|4/17|c.23-82A>G||||||,G|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|3/16|c.23-82A>G||||||,G|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_020744.3|protein_coding|3/13|c.191-82A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4150;p3_1000G_AF=0.828674;p3_1000G_AFR_AF=0.9607;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=19541;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.7038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42836516;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:955,69,0
chr2	42644004	rs2272448	C	G	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-1.645;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272448;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|6/17|c.214-123C>G||||||,G|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|5/16|c.214-123C>G||||||,G|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_020744.3|protein_coding|5/13|c.382-123C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1779;p3_1000G_AF=0.355232;p3_1000G_AFR_AF=0.1929;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=18154;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.4085;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42871144;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:61:61,0,112
chr2	42695748	rs66547039	AT	A	188.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.23;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs66547039;dbSNPBuildID=137;ANN=A|splice_region_variant&intron_variant|LOW|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|10/17|c.724-4delT||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|9/16|c.724-4delT||||||INFO_REALIGN_3_PRIME,A|splice_region_variant&intron_variant|LOW|MTA3|MTA3|transcript|NM_020744.3|protein_coding|9/13|c.892-4delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1958;p3_1000G_AF=0.390974;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=14511;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.3201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42922888;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:11,11:22:99:226,0,224
chr2	42697939	rs148782944;rs66846641	TTTC	T	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-0.524;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs148782944,rs66846641;dbSNPBuildID=134,130;ANN=T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|12/17|c.857+113_857+115delTCT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|11/16|c.857+113_857+115delTCT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_020744.3|protein_coding|11/13|c.1025+113_1025+115delTCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1221;p3_1000G_AF=0.24381;p3_1000G_AFR_AF=0.1762;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=17570;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42925079;p3_1000G_GRCH37_REF=TTTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,123
chr2	42704077	rs2304658	A	C	97.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304658;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|12/17|c.858-120A>C||||||,C|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|11/16|c.858-120A>C||||||,C|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_020744.3|protein_coding|11/13|c.1026-117A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3750;p3_1000G_AF=0.748802;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=18978;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.5467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42931217;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:125,12,0
chr2	42708821	rs4953577	C	T	134.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4953577;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|14/17|c.1132-53C>T||||||,T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|13/16|c.1132-53C>T||||||,T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_020744.3|protein_coding|13/13|c.1303-53C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3712;p3_1000G_AF=0.741214;p3_1000G_AFR_AF=0.8268;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=21264;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.5278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42935961;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:163,15,0
chr2	42708839	rs4953578	C	T	125.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4953578;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|14/17|c.1132-35C>T||||||,T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|13/16|c.1132-35C>T||||||,T|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_020744.3|protein_coding|13/13|c.1303-35C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3712;p3_1000G_AF=0.741214;p3_1000G_AFR_AF=0.826;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=20659;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.5278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42935979;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3127,725;ESP6500_AA_GTC=1275,577,74;ESP6500_CDS_SIZES=NM_020744.2:1548;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=178;ESP6500_EA_AC=4721,3539;ESP6500_EA_GTC=1356,2009,765;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020744.2:intron;ESP6500_GL=MTA3;ESP6500_GRCh38_POSITION=2:42708839;ESP6500_GTC=2631,2586,839;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020744.2:c.1303-35C>T;ESP6500_MAF=42.845,18.8214,35.2048;ESP6500_TAC=7848,4264	GT:AD:DP:GQ:PL	1/1:0,4:4:12:153,12,0
chr2	42709279	rs11397049	G	GA	57.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.084;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.842;SOR=0.368;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11397049;dbSNPBuildID=137;ANN=GA|3_prime_UTR_variant|MODIFIER|MTA3|MTA3|transcript|NM_020744.3|protein_coding|14/14|c.*170dupA|||||171|INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282755.1|protein_coding|15/17|c.1354+193dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|MTA3|MTA3|transcript|NM_001282756.1|protein_coding|14/16|c.1354+193dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3674;p3_1000G_AF=0.733626;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=19642;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42936419;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,4:6:38:95,0,38
chr2	42763196	rs1992286	T	G	913.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.202;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1992286;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|OXER1|OXER1|transcript|NM_148962.4|protein_coding|1/1|c.984A>C|p.Arg328Arg|1066/1763|984/1272|328/423||,G|downstream_gene_variant|MODIFIER|HAAO|HAAO|transcript|NM_012205.2|protein_coding||c.*4241A>C|||||3893|;p3_1000G_AA=.|||;p3_1000G_AC=3907;p3_1000G_AF=0.780152;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=16668;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.5408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42990336;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7689;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3884,522;ESP6500_AA_AGE=231.4+/-245.2;ESP6500_AA_GTC=1712,460,31;ESP6500_CDS_SIZES=NM_148962.4:1272;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=43;ESP6500_EA_AC=4706,3894;ESP6500_EA_AGE=534.2+/-382.6;ESP6500_EA_GTC=1271,2164,865;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_148962.4:coding-synonymous;ESP6500_GL=OXER1;ESP6500_GRCh38_POSITION=2:42763196;ESP6500_GTC=2983,2624,896;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_148962.4:c.984A>C;ESP6500_HGVS_PROTEIN_VAR=NM_148962.4:p.(R328);ESP6500_MAF=45.2791,11.8475,33.9536;ESP6500_TAC=8590,4416	GT:AD:DP:GQ:PL	0/1:27,34:61:99:942,0,690
chr2	42769619	rs10535571;rs66779554;rs796225650;rs542846470	AAGAG	A	119.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.96;ReadPosRankSum=1.28;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10535571,rs71813540,rs34567167,rs66779554;dbSNPBuildID=146,137,137;ANN=A|intron_variant|MODIFIER|HAAO|HAAO|transcript|NM_012205.2|protein_coding|7/9|c.630+90_630+93delCTCT||||||;p3_1000G_AC=4002;p3_1000G_AF=0.799121;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.8617;p3_1000G_AN=5008;p3_1000G_DP=18574;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.7137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42996759;p3_1000G_GRCH37_REF=AAGAG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8855;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,4:6:72:157,0,72
chr2	42769679	rs13413507	G	A	355.31	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.587;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.38;ReadPosRankSum=-1.49;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13413507;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|HAAO|HAAO|transcript|NM_012205.2|protein_coding|7/9|c.630+34C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=445;p3_1000G_AF=0.0888578;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=17222;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0.1342;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42996819;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1534;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=250,4156;ESP6500_AA_AGE=141.1+/-176.5;ESP6500_AA_GTC=4,242,1957;ESP6500_CDS_SIZES=NM_012205.2:861;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=43;ESP6500_EA_AC=1184,7416;ESP6500_EA_AGE=237.5+/-269.3;ESP6500_EA_GTC=80,1024,3196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012205.2:intron;ESP6500_GL=HAAO;ESP6500_GRCh38_POSITION=2:42769679;ESP6500_GTC=84,1266,5153;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012205.2:c.630+34C>T;ESP6500_MAF=13.7674,5.6741,11.0257;ESP6500_TAC=1434,11572	GT:AD:DP:GQ:PL	0/1:1,13:14:1:381,0,1
chr2	42770474	rs2241850	G	A	584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.103;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=6.544;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=0.606;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241850;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|HAAO|HAAO|transcript|NM_012205.2|protein_coding|5/9|c.440+19C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2047;p3_1000G_AF=0.408746;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=18814;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.4195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42997614;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP;ESP6500_AA_AC=1079,3203;ESP6500_AA_GTC=130,819,1192;ESP6500_CDS_SIZES=NM_012205.2:861;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=24;ESP6500_EA_AC=2814,5528;ESP6500_EA_GTC=483,1848,1840;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012205.2:intron;ESP6500_GL=HAAO;ESP6500_GRCh38_POSITION=2:42770474;ESP6500_GTC=613,2667,3032;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012205.2:c.440+19C>T;ESP6500_MAF=33.7329,25.1985,30.8381;ESP6500_TAC=3893,8731	GT:AD:DP:GQ:PL	0/1:10,21:31:99:613,0,297
chr2	42788472	rs3816181	G	T	452.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.378;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.622;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816181;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|HAAO|HAAO|transcript|NM_012205.2|protein_coding|2/9|c.159+57C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4301;p3_1000G_AF=0.858826;p3_1000G_AFR_AF=0.8956;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=20500;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43015612;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9499;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1209,175;ESP6500_AA_GTC=525,159,8;ESP6500_CDS_SIZES=NM_012205.2:861;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=85;ESP6500_EA_AC=2461,721;ESP6500_EA_GTC=952,557,82;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012205.2:intron;ESP6500_GL=HAAO;ESP6500_GRCh38_POSITION=2:42788472;ESP6500_GTC=1477,716,90;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_012205.2:c.159+57C>A;ESP6500_MAF=22.6587,12.6445,19.6233;ESP6500_TAC=3670,896	GT:AD:DP:GQ:PL	0/1:19,18:37:99:481,0,533
chr2	42788579	rs3816183	T	C	611.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.287;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.243;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.066;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816183;dbSNPBuildID=107;ANN=C|structural_interaction_variant|HIGH|HAAO|HAAO|interaction|2QNK:A_37-A_101:NM_012205.2|protein_coding|2/10|c.109A>G||||||,C|missense_variant|MODERATE|HAAO|HAAO|transcript|NM_012205.2|protein_coding|2/10|c.109A>G|p.Ile37Val|184/1284|109/861|37/286||;p3_1000G_AA=C|||;p3_1000G_AC=4305;p3_1000G_AF=0.859625;p3_1000G_AFR_AF=0.8911;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=21850;p3_1000G_EAS_AF=0.8026;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43015719;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9509;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3767,639;ESP6500_AA_AGE=273.4+/-271.3;ESP6500_AA_GTC=1608,551,44;ESP6500_CDS_SIZES=NM_012205.2:861;ESP6500_CG=3.7;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=175;ESP6500_EA_AC=6555,2045;ESP6500_EA_AGE=357.1+/-330.6;ESP6500_EA_GTC=2499,1557,244;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012205.2:missense;ESP6500_GL=HAAO;ESP6500_GRCh38_POSITION=2:42788579;ESP6500_GS=29;ESP6500_GTC=4107,2108,288;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012205.2:c.109A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012205.2:p.(I37V);ESP6500_MAF=23.7791,14.503,20.6366;ESP6500_PH=benign:0.0;ESP6500_TAC=10322,2684	GT:AD:DP:GQ:PL	0/1:30,27:57:99:640,0,714
chr2	42788617	rs3816184	G	A	534.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.664;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-2.124;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816184;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|HAAO|HAAO|transcript|NM_012205.2|protein_coding|1/9|c.81-10C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4299;p3_1000G_AF=0.858427;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=21196;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.7584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43015757;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9509;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3775,631;ESP6500_AA_AGE=768.0+/-413.6;ESP6500_AA_GTC=1615,545,43;ESP6500_CDS_SIZES=NM_012205.2:861;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=131;ESP6500_EA_AC=6546,2054;ESP6500_EA_AGE=718.9+/-406.2;ESP6500_EA_GTC=2493,1560,247;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012205.2:intron;ESP6500_GL=HAAO;ESP6500_GRCh38_POSITION=2:42788617;ESP6500_GTC=4108,2105,290;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012205.2:c.81-10C>T;ESP6500_MAF=23.8837,14.3214,20.6443;ESP6500_TAC=10321,2685	GT:AD:DP:GQ:PL	0/1:24,24:48:99:563,0,635
chr2	42788703	rs79166340	C	T	356.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.355;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.291;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.239;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79166340;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|HAAO|HAAO|transcript|NM_012205.2|protein_coding|1/9|c.81-96G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=70;p3_1000G_AF=0.0139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19964;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43015843;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:385,0,402
chr2	42792590	rs2304656	A	G	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.52;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304656;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|HAAO|HAAO|transcript|NM_012205.2|protein_coding|1/10|c.-54T>C|||||54|;p3_1000G_AA=G|||;p3_1000G_AC=4300;p3_1000G_AF=0.858626;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=11260;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.7604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43019730;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:138,0,109
chr2	43764218	rs7565517	A	C	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=6.107;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.99;ReadPosRankSum=0.279;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7565517;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PLEKHH2|PLEKHH2|transcript|NM_172069.3|protein_coding|28/29|c.4159-10A>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=3744;p3_1000G_AF=0.747604;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=16069;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.7306;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43991357;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=4060,344;ESP6500_AA_AGE=169.4+/-200.1;ESP6500_AA_GTC=1868,324,10;ESP6500_CDS_SIZES=NM_172069.3:4482;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=56;ESP6500_EA_AC=6664,1936;ESP6500_EA_AGE=339.1+/-323.0;ESP6500_EA_GTC=2587,1490,223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172069.3:intron;ESP6500_GL=PLEKHH2;ESP6500_GRCh38_POSITION=2:43764218;ESP6500_GTC=4455,1814,233;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_172069.3:c.4159-10A>C;ESP6500_MAF=22.5116,7.8111,17.5331;ESP6500_TAC=10724,2280	GT:AD:DP:GQ:PL	0/1:6,12:18:99:406,0,119
chr2	43822758	rs748050136	A	G	363.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.775;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=1.79;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|ABCG5|ABCG5|transcript|NM_022436.2|protein_coding|10/12|c.1463+39T>C||||||	GT:AD:DP:GQ:PL	0/1:4,15:19:87:392,0,87
chr2	43828307	rs4557032	G	A	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.48;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.447;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4557032;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ABCG5|ABCG5|transcript|NM_022436.2|protein_coding|4/12|c.502-192C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2162;p3_1000G_AF=0.431709;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=16769;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.3439;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44055446;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:63:144,0,63
chr2	43828388	rs4549146	T	C	107.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4549146;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ABCG5|ABCG5|transcript|NM_022436.2|protein_coding|4/12|c.502-273A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3123;p3_1000G_AF=0.623602;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=14355;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44055527;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:135,12,0
chr2	43839035	rs3806471;193450	T	G	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.29;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.099;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806471;dbSNPBuildID=107;ANN=G|5_prime_UTR_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|1/13|c.-19T>G|||||19|,G|upstream_gene_variant|MODIFIER|ABCG5|ABCG5|transcript|NM_022436.2|protein_coding||c.-356A>C|||||216|;p3_1000G_AA=G|||;p3_1000G_AC=2451;p3_1000G_AF=0.489417;p3_1000G_AFR_AF=0.3979;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=16173;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.2972;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44066174;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1242,2454;ESP6500_AA_GTC=206,830,812;ESP6500_CDS_SIZES=NM_022437.2:2022;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=13;ESP6500_EA_AC=1882,5118;ESP6500_EA_GTC=243,1396,1861;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022437.2:utr-5;ESP6500_GL=ABCG8;ESP6500_GRCh38_POSITION=2:43839035;ESP6500_GTC=449,2226,2673;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_022437.2:c.-19T>G;ESP6500_MAF=26.8857,33.6039,29.2072;ESP6500_TAC=3124,7572;CLINVAR_AF_ESP=0.2921;CLINVAR_AF_EXAC=0.41649;CLINVAR_AF_TGP=0.4894;CLINVAR_ALLELEID=190614;CLINVAR_CLNDISDB=MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED_CT:238104009|MedGen:CN169374;CLINVAR_CLNDN=Sitosterolemia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.43839035T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24650;CLINVAR_GENEINFO=ABCG5:64240|ABCG8:64241;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3806471	GT:AD:DP:GQ:PL	0/1:22,16:38:99:425,0,559
chr2	43844486	rs4148209	C	A	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.148;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-0.494;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4148209;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|1/12|c.64-21C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2176;p3_1000G_AF=0.434505;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=19270;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44071625;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=859,3547;ESP6500_AA_AGE=334.7+/-303.5;ESP6500_AA_GTC=80,699,1424;ESP6500_CDS_SIZES=NM_022437.2:2022;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=34;ESP6500_EA_AC=3300,5300;ESP6500_EA_AGE=490.1+/-372.8;ESP6500_EA_GTC=618,2064,1618;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022437.2:intron;ESP6500_GL=ABCG8;ESP6500_GRCh38_POSITION=2:43844486;ESP6500_GTC=698,2763,3042;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_022437.2:c.64-21C>A;ESP6500_MAF=38.3721,19.4961,31.9775;ESP6500_TAC=4159,8847	GT:AD:DP:GQ:PL	0/1:14,12:26:99:265,0,376
chr2	43844500	rs4148210;336062	C	T	301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.663;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.216;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4148210;dbSNPBuildID=110;ANN=T|splice_region_variant&intron_variant|LOW|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|1/12|c.64-7C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2584;p3_1000G_AF=0.515974;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=18912;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44071639;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1812,2594;ESP6500_AA_AGE=529.0+/-372.6;ESP6500_AA_GTC=369,1074,760;ESP6500_CDS_SIZES=NM_022437.2:2022;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=42;ESP6500_EA_AC=3311,5289;ESP6500_EA_AGE=492.4+/-373.3;ESP6500_EA_GTC=622,2067,1611;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022437.2:intron;ESP6500_GL=ABCG8;ESP6500_GRCh38_POSITION=2:43844500;ESP6500_GTC=991,3141,2371;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022437.2:c.64-7C>T;ESP6500_MAF=38.5,41.1257,39.3895;ESP6500_TAC=5123,7883;CLINVAR_AF_ESP=0.3939;CLINVAR_AF_EXAC=0.44906;CLINVAR_ALLELEID=287074;CLINVAR_CLNDISDB=MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED_CT:238104009;CLINVAR_CLNDN=Sitosterolemia;CLINVAR_CLNHGVS=NC_000002.12:g.43844500C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24720;CLINVAR_GENEINFO=ABCG8:64241;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4148210	GT:AD:DP:GQ:PL	0/1:15,15:30:99:330,0,448
chr2	43844604	rs4148211;288558	A	G	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.154;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4148211;dbSNPBuildID=110;ANN=G|missense_variant|MODERATE|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|2/13|c.161A>G|p.Tyr54Cys|251/2665|161/2022|54/673||;p3_1000G_AA=A|||;p3_1000G_AC=2177;p3_1000G_AF=0.434704;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=16941;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44071743;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=860,3546;ESP6500_AA_AGE=335.7+/-304.0;ESP6500_AA_GTC=80,700,1423;ESP6500_CDS_SIZES=NM_022437.2:2022;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=46;ESP6500_EA_AC=3313,5287;ESP6500_EA_AGE=495.2+/-374.0;ESP6500_EA_GTC=621,2071,1608;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022437.2:missense;ESP6500_GL=ABCG8;ESP6500_GRCh38_POSITION=2:43844604;ESP6500_GS=194;ESP6500_GTC=701,2771,3031;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022437.2:c.161A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022437.2:p.(Y54C);ESP6500_MAF=38.5233,19.5188,32.0852;ESP6500_PH=benign:0.321;ESP6500_TAC=4173,8833;CLINVAR_AF_ESP=0.3209;CLINVAR_AF_EXAC=0.42872;CLINVAR_AF_TGP=0.4347;CLINVAR_ALLELEID=272795;CLINVAR_CLNDISDB=MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED_CT:238104009|MedGen:CN169374;CLINVAR_CLNDN=Sitosterolemia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.43844604A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24738|UniProtKB_(protein):Q9H221#VAR_012251;CLINVAR_GENEINFO=ABCG8:64241;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4148211	GT:AD:DP:GQ:PL	0/1:14,15:29:99:415,0,350
chr2	43844694	rs4148212	A	C	105.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1.14;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4148212;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|2/12|c.165+86A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2579;p3_1000G_AF=0.514976;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=15206;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44071833;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:134,0,233
chr2	43844713	rs4148213	G	C	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.512;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-2.402;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4148213;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|2/12|c.165+105G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2585;p3_1000G_AF=0.516174;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=15752;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.3718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44071852;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:222,0,217
chr2	43851865	rs4148214	T	C	648.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.68;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.02;ReadPosRankSum=-0.16;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4148214;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|4/12|c.561+43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3424;p3_1000G_AF=0.683706;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=17728;p3_1000G_EAS_AF=0.8581;p3_1000G_EUR_AF=0.5388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44079004;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2944,1462;ESP6500_AA_AGE=467.0+/-354.7;ESP6500_AA_GTC=993,958,252;ESP6500_CDS_SIZES=NM_022437.2:2022;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=56;ESP6500_EA_AC=4793,3807;ESP6500_EA_AGE=533.0+/-382.3;ESP6500_EA_GTC=1355,2083,862;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022437.2:intron;ESP6500_GL=ABCG8;ESP6500_GRCh38_POSITION=2:43851865;ESP6500_GTC=2348,3041,1114;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022437.2:c.561+43T>C;ESP6500_MAF=44.2674,33.182,40.5121;ESP6500_TAC=7737,5269	GT:AD:DP:GQ:PL	0/1:16,20:36:99:677,0,381
chr2	43852262	rs56260466	G	A	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.653;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.57;SOR=0.56;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56260466;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|4/12|c.562-92G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=260;p3_1000G_AF=0.0519169;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=16563;p3_1000G_EAS_AF=0.0833;p3_1000G_EUR_AF=0.0636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44079401;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:352,0,317
chr2	43872294	rs4148217;198902	C	A	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.61;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=3.389;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.154;SOR=1.341;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4148217;dbSNPBuildID=110;ANN=A|missense_variant|MODERATE|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|8/13|c.1199C>A|p.Thr400Lys|1289/2665|1199/2022|400/673||;p3_1000G_AA=C|||;p3_1000G_AC=1080;p3_1000G_AF=0.215655;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18266;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.2008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44099433;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1202,3204;ESP6500_AA_AGE=413.7+/-336.6;ESP6500_AA_GTC=178,846,1179;ESP6500_CDS_SIZES=NM_022437.2:2022;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=45;ESP6500_EA_AC=1647,6953;ESP6500_EA_AGE=300.6+/-305.0;ESP6500_EA_GTC=162,1323,2815;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022437.2:missense;ESP6500_GL=ABCG8;ESP6500_GRCh38_POSITION=2:43872294;ESP6500_GS=78;ESP6500_GTC=340,2169,3994;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_022437.2:c.1199C>A;ESP6500_HGVS_PROTEIN_VAR=NM_022437.2:p.(T400K);ESP6500_MAF=19.1512,27.281,21.9053;ESP6500_PH=benign:0.059;ESP6500_TAC=2849,10157;CLINVAR_AF_ESP=0.2191;CLINVAR_AF_EXAC=0.21463;CLINVAR_AF_TGP=0.2157;CLINVAR_ALLELEID=196062;CLINVAR_CLNDISDB=MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED_CT:238104009|MedGen:CN169374;CLINVAR_CLNDN=Sitosterolemia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.43872294C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24654|UniProtKB_(protein):Q9H221#VAR_012257;CLINVAR_GENEINFO=ABCG8:64241;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4148217	GT:AD:DP:GQ:PL	0/1:30,19:49:99:542,0,835
chr2	43874075	rs10709506	CA	C	645.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.89;SOR=4.294;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10709506;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|9/12|c.1411+90delA||||||;p3_1000G_AA=?|A|-|unsure;p3_1000G_AC=4682;p3_1000G_AF=0.934904;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=20245;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.8469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44101214;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:51:683,51,0
chr2	43874255	rs4953027	A	G	229.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs367609632,rs4953027;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|9/12|c.1412-152A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4060;p3_1000G_AF=0.810703;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=18119;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.7535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44101394;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:258,18,0
chr2	43874291	rs4952689	T	G	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.69;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.78;ReadPosRankSum=0.33;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4952689;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|9/12|c.1412-116T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2633;p3_1000G_AF=0.525759;p3_1000G_AFR_AF=0.2383;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=18483;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44101430;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:82:266,0,82
chr2	43874398	rs138296512;~rs112765285;336079	A	AT	368.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=3.057;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.644;SOR=1.387;INS;HET;VARTYPE=INS;dbSNP138_ID=rs138296512,rs3841853;dbSNPBuildID=134;ANN=AT|splice_region_variant&intron_variant|LOW|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|9/12|c.1412-9_1412-8insT||||||;p3_1000G_AA=?|-|T|unsure;p3_1000G_AC=1151;p3_1000G_AF=0.229832;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs550924522;p3_1000G_DP=18792;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.1441;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44101537;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2106;p3_1000G_VT=INDEL;ESP6500_AA_AC=816,58,486,2906;ESP6500_AA_GTC=63,0,284,406,29,0,0,67,68,1216;ESP6500_CDS_SIZES=NM_022437.2:2022,NM_022437.2:2022,NM_022437.2:2022;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=123;ESP6500_EA_AC=1206,18,710,6320;ESP6500_EA_GTC=70,0,373,693,9,0,0,92,153,2737;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022437.2:intron,NM_022437.2:intron,NM_022437.2:intron;ESP6500_GL=ABCG8;ESP6500_GRCh38_POSITION=2:43874398;ESP6500_GTC=133,0,657,1099,38,0,0,159,221,3953;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_022437.2:c.1412-8del3,NM_022437.2:c.1412-8_1412-7del2,NM_022437.2:c.1412-9_1412-8insATCT;ESP6500_MAF=23.4311,31.88,26.3099;ESP6500_TAC=2022,76,1196,9226;CLINVAR_AF_EXAC=0.18554;CLINVAR_AF_TGP=0.2298;CLINVAR_ALLELEID=287085;CLINVAR_CLNDISDB=MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED_CT:238104009;CLINVAR_CLNDN=Sitosterolemia;CLINVAR_CLNHGVS=NC_000002.12:g.43874398_43874399insT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:497928;CLINVAR_GENEINFO=ABCG8:64241;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=138296512	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,16:39:99:0|1:43874398_A_AT:406,0,589
chr2	43874399	rs28517482;336080	C	T	1485.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs112765285,rs28517482;dbSNPBuildID=125;ANN=T|splice_region_variant&intron_variant|LOW|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|9/12|c.1412-8C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3831;p3_1000G_AF=0.764976;p3_1000G_AFR_AF=0.7247;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=18558;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44101538;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.774;p3_1000G_VT=SNP;CLINVAR_ALLELEID=286334;CLINVAR_CLNDISDB=MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED_CT:238104009;CLINVAR_CLNDN=Sitosterolemia;CLINVAR_CLNHGVS=NC_000002.12:g.43874399C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24640;CLINVAR_GENEINFO=ABCG8:64241;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28517482	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:43874398_A_AT:1514,126,0
chr2	43874510	rs3841852	G	GC	1113.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.72;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=1.16;SOR=0.43;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3841852,rs10667526;dbSNPBuildID=107;ANN=GC|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|10/12|c.1488+33dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1581;p3_1000G_AF=0.315695;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=17449;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44101649;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:1,13:14:99:1151,624,558
chr2	43874510	rs3841852	G	GCC	1113.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.72;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=1.16;SOR=0.43;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3841852,rs10667526;dbSNPBuildID=107;ANN=GCC|intron_variant|MODIFIER|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|10/12|c.1488+32_1488+33dupCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1484;p3_1000G_AF=0.296326;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=17449;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.1093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44101649;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,22:23:99:1151,327,294
chr2	43877786	rs6544718;336092	T	C	1940.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.35;SOR=0.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6544718;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|ABCG8|ABCG8|transcript|NM_022437.2|protein_coding|13/13|c.1895T>C|p.Val632Ala|1985/2665|1895/2022|632/673||;p3_1000G_AA=C|||;p3_1000G_AC=4622;p3_1000G_AF=0.922923;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=20192;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44104925;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4174,232;ESP6500_AA_AGE=136.1+/-172.1;ESP6500_AA_GTC=1980,214,9;ESP6500_CDS_SIZES=NM_022437.2:2022;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=138;ESP6500_EA_AC=6715,1885;ESP6500_EA_AGE=336.0+/-321.7;ESP6500_EA_GTC=2651,1413,236;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022437.2:missense;ESP6500_GL=ABCG8;ESP6500_GRCh38_POSITION=2:43877786;ESP6500_GS=64;ESP6500_GTC=4631,1627,245;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022437.2:c.1895T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022437.2:p.(V632A);ESP6500_MAF=21.9186,5.2655,16.2771;ESP6500_PH=benign:0.0;ESP6500_TAC=10889,2117;CLINVAR_ALLELEID=289805;CLINVAR_CLNDISDB=MedGen:C0342907,OMIM:210250,Orphanet:ORPHA2882,SNOMED_CT:238104009;CLINVAR_CLNDN=Sitosterolemia;CLINVAR_CLNHGVS=NC_000002.12:g.43877786T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24652|UniProtKB_(protein):Q9H221#VAR_012267;CLINVAR_GENEINFO=ABCG8:64241;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6544718	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1969,159,0
chr2	43889697	rs2955280	C	T	289.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2955280;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|37/37|c.4128+37G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3725;p3_1000G_AF=0.74381;p3_1000G_AFR_AF=0.8971;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=19693;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44116836;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3619,787;ESP6500_AA_AGE=295.6+/-283.7;ESP6500_AA_GTC=1485,649,69;ESP6500_CDS_SIZES=NM_133259.3:4185;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=40;ESP6500_EA_AC=4165,4435;ESP6500_EA_AGE=579.8+/-391.0;ESP6500_EA_GTC=1019,2127,1154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133259.3:intron;ESP6500_GL=LRPPRC;ESP6500_GRCh38_POSITION=2:43889697;ESP6500_GTC=2504,2776,1223;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133259.3:c.4128+37G>A;ESP6500_MAF=48.4302,17.862,40.1507;ESP6500_TAC=7784,5222	GT:AD:DP:GQ:PL	1/1:0,10:10:30:318,30,0
chr2	43896533	rs3839036	TC	T	1052.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=3.69;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3839036;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|35/37|c.3900+100delG||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=3211;p3_1000G_AF=0.641174;p3_1000G_AFR_AF=0.7247;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=18770;p3_1000G_EAS_AF=0.9504;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44123672;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,27:27:81:1090,81,0
chr2	43918235	rs7568481	G	T	1948.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=1.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7568481;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|28/37|c.3039+21C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3278;p3_1000G_AF=0.654553;p3_1000G_AFR_AF=0.7572;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=17599;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44145374;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2971,1435;ESP6500_AA_AGE=664.7+/-401.4;ESP6500_AA_GTC=1011,949,243;ESP6500_CDS_SIZES=NM_133259.3:4185;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=97;ESP6500_EA_AC=3359,5241;ESP6500_EA_AGE=493.9+/-373.7;ESP6500_EA_GTC=652,2055,1593;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133259.3:intron;ESP6500_GL=LRPPRC;ESP6500_GRCh38_POSITION=2:43918235;ESP6500_GTC=1663,3004,1836;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_133259.3:c.3039+21C>A;ESP6500_MAF=39.0581,32.5692,48.6698;ESP6500_TAC=6330,6676	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1977,180,0
chr2	43925041	rs4952694	G	A	1388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=1.378;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4952694;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|27/37|c.2896+26C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3766;p3_1000G_AF=0.751997;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=19251;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.4891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44152180;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6789;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3616,790;ESP6500_AA_AGE=313.0+/-292.9;ESP6500_AA_GTC=1490,636,77;ESP6500_CDS_SIZES=NM_133259.3:4185;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=113;ESP6500_EA_AC=4093,4507;ESP6500_EA_AGE=588.6+/-392.4;ESP6500_EA_GTC=976,2141,1183;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133259.3:intron;ESP6500_GL=LRPPRC;ESP6500_GRCh38_POSITION=2:43925041;ESP6500_GTC=2466,2777,1260;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133259.3:c.2896+26C>T;ESP6500_MAF=47.593,17.9301,40.7274;ESP6500_TAC=7709,5297	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1417,141,0
chr2	43925267	rs4953039	G	T	473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4953039;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|26/37|c.2806-110C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3639;p3_1000G_AF=0.726637;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=20317;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44152406;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:502,45,0
chr2	43945305	rs28394191	A	C	1223.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28394191;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|22/37|c.2296+27T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3043;p3_1000G_AF=0.607628;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=21685;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.4125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44172444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2398,2008;ESP6500_AA_AGE=613.1+/-392.1;ESP6500_AA_GTC=657,1084,462;ESP6500_CDS_SIZES=NM_133259.3:4185;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=103;ESP6500_EA_AC=3446,5152;ESP6500_EA_AGE=504.7+/-376.2;ESP6500_EA_GTC=686,2074,1539;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133259.3:intron;ESP6500_GL=LRPPRC;ESP6500_GRCh38_POSITION=2:43945305;ESP6500_GTC=1343,3158,2001;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_133259.3:c.2296+27T>G;ESP6500_MAF=40.0791,45.5742,44.94;ESP6500_TAC=5844,7160	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1252,116,0
chr2	43946283	rs7594526	T	G	1054.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7594526;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|20/37|c.2080-40A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3183;p3_1000G_AF=0.635583;p3_1000G_AFR_AF=0.6543;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=18917;p3_1000G_EAS_AF=0.9573;p3_1000G_EUR_AF=0.4135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44173422;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2733,1673;ESP6500_AA_AGE=609.1+/-391.3;ESP6500_AA_GTC=861,1011,331;ESP6500_CDS_SIZES=NM_133259.3:4185;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=39;ESP6500_EA_AC=3428,5162;ESP6500_EA_AGE=488.9+/-372.5;ESP6500_EA_GTC=684,2060,1551;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133259.3:intron;ESP6500_GL=LRPPRC;ESP6500_GRCh38_POSITION=2:43946283;ESP6500_GTC=1545,3071,1882;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_133259.3:c.2080-40A>C;ESP6500_MAF=39.9069,37.9709,47.4069;ESP6500_TAC=6161,6835	GT:AD:DP:GQ:PL	1/1:0,32:32:95:1083,95,0
chr2	43974237	rs4953042;129547	T	C	539.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.119;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4953042;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|9/38|c.1068A>G|p.Gln356Gln|1126/6619|1068/4185|356/1394||;p3_1000G_AA=T|||;p3_1000G_AC=1281;p3_1000G_AF=0.255791;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=19268;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.1521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44201376;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=212,4194;ESP6500_AA_AGE=129.4+/-166.1;ESP6500_AA_GTC=4,204,1995;ESP6500_CDS_SIZES=NM_133259.3:4185;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=76;ESP6500_EA_AC=1286,7314;ESP6500_EA_AGE=254.0+/-279.5;ESP6500_EA_GTC=89,1108,3103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133259.3:coding-synonymous;ESP6500_GL=LRPPRC;ESP6500_GRCh38_POSITION=2:43974237;ESP6500_GTC=93,1312,5098;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133259.3:c.1068A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133259.3:p.(Q356);ESP6500_MAF=14.9535,4.8116,11.5178;ESP6500_TAC=1498,11508;CLINVAR_AF_ESP=0.1152;CLINVAR_AF_EXAC=0.20990;CLINVAR_AF_TGP=0.2558;CLINVAR_ALLELEID=134993;CLINVAR_CLNDISDB=MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:CN169374;CLINVAR_CLNDN=Leigh_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.43974237T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24709;CLINVAR_GENEINFO=LRPPRC:10128;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4953042	GT:AD:DP:GQ:PL	0/1:20,19:39:99:568,0,498
chr2	43982184	rs141094431	G	C	215.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.98;ReadPosRankSum=0.887;SOR=1.447;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141094431;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding|2/37|c.346+54C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=57;p3_1000G_AF=0.0113818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18033;p3_1000G_EAS_AF=0.0536;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44209323;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,7:8:19:244,0,19
chr2	43996130	.	T	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.869;SOR=1.27;SNP;HET;VARTYPE=SNP;ANN=A|upstream_gene_variant|MODIFIER|LRPPRC|LRPPRC|transcript|NM_133259.3|protein_coding||c.-183A>T|||||125|,A|intergenic_region|MODIFIER|LRPPRC-PPM1B|LRPPRC-PPM1B|intergenic_region|LRPPRC-PPM1B|||n.43996130T>A||||||	GT:AD:DP:GQ:PL	0/1:5,8:13:99:237,0,144
chr2	44715245	rs343957	C	G	480.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs343957;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|CAMKMT|CAMKMT|transcript|NM_024766.4|protein_coding|6/10|c.557-42C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3924;p3_1000G_AF=0.783546;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=14539;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44942384;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3949,457;ESP6500_AA_AGE=212.8+/-232.6;ESP6500_AA_GTC=1775,399,29;ESP6500_CDS_SIZES=NM_024766.3:972;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=51;ESP6500_EA_AC=5168,3432;ESP6500_EA_AGE=499.5+/-375.0;ESP6500_EA_GTC=1533,2102,665;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024766.3:intron;ESP6500_GL=CAMKMT;ESP6500_GRCh38_POSITION=2:44715245;ESP6500_GTC=3308,2501,694;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024766.3:c.557-42C>G;ESP6500_MAF=39.907,10.3722,29.9016;ESP6500_TAC=9117,3889	GT:AD:DP:GQ:PL	1/1:0,17:17:51:509,51,0
chr2	44753980	rs3738980	T	G	1261.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738980;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CAMKMT|CAMKMT|transcript|NM_024766.4|protein_coding|8/10|c.699-75T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1520;p3_1000G_AF=0.303514;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=21544;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44981119;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1290,114,0
chr2	44944703	rs338074;rs62840660;167690	A	G	1560.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs369744582,rs338074;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|SIX3|SIX3|transcript|NM_005413.3|protein_coding|2/2|c.942A>G|p.Ala314Ala|1149/2523|942/999|314/332||,G|upstream_gene_variant|MODIFIER|SIX3-AS1|SIX3-AS1|transcript|NR_103785.1|pseudogene||n.-3196T>C|||||3196|,G|upstream_gene_variant|MODIFIER|SIX3-AS1|SIX3-AS1|transcript|NR_103786.1|pseudogene||n.-2825T>C|||||2825|;p3_1000G_AA=G|||;p3_1000G_AC=4695;p3_1000G_AF=0.9375;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=10095;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.9165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45171842;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4039,129;ESP6500_AA_GTC=1959,121,4;ESP6500_CDS_SIZES=NM_005413.3:999;ESP6500_CG=1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=19;ESP6500_EA_AC=7494,648;ESP6500_EA_GTC=3453,588,30;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005413.3:coding-synonymous;ESP6500_GL=SIX3;ESP6500_GRCh38_POSITION=2:44944703;ESP6500_GTC=5412,709,34;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005413.3:c.942A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005413.3:p.(A314);ESP6500_MAF=7.9587,3.095,6.3119;ESP6500_TAC=11533,777;CLINVAR_ALLELEID=178072;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.44944703A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SIX3:6496;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=338074	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1589,156,0
chr2	45389710	rs3731944	T	C	532.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.508;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-1.194;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731944;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SRBD1|SRBD1|transcript|NM_018079.4|protein_coding|20/20|c.2699-111A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=509;p3_1000G_AF=0.101637;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=19304;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.1223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45616849;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1462;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,19:33:99:561,0,372
chr2	45547409	rs1865685	A	C	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0.728;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1865685;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|SRBD1|SRBD1|transcript|NM_018079.4|protein_coding|13/20|c.1766+113T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3748;p3_1000G_AF=0.748403;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=15063;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.7803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45774548;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:97:97,0,177
chr2	45602147	rs12998864	A	C	59.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.842;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12998864;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|SRBD1|SRBD1|transcript|NM_018079.4|protein_coding|2/20|c.81-64T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1241;p3_1000G_AF=0.247804;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=19860;p3_1000G_EAS_AF=0.3026;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45829286;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:88:88,0,137
chr2	45652471	rs637909	A	G	1644.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.61;SOR=4.565;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs637909;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|PRKCE|PRKCE|transcript|NM_005400.2|protein_coding|1/14|c.348+23A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4329;p3_1000G_AF=0.864417;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=15094;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45879610;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8804;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3783,561;ESP6500_AA_GTC=1647,489,36;ESP6500_CDS_SIZES=NM_005400.2:2214;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=9;ESP6500_EA_AC=7283,1177;ESP6500_EA_GTC=3143,997,90;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005400.2:intron;ESP6500_GL=PRKCE;ESP6500_GRCh38_POSITION=2:45652471;ESP6500_GTC=4790,1486,126;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005400.2:c.348+23A>G;ESP6500_MAF=13.9125,12.9144,13.5739;ESP6500_TAC=11066,1738	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1673,123,0
chr2	45980428	rs2249505	C	T	1236.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.71;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2249505;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PRKCE|PRKCE|transcript|NM_005400.2|protein_coding|5/14|c.693+47C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1291;p3_1000G_AF=0.257788;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=19735;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46207567;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=192,3436;ESP6500_AA_GTC=9,174,1631;ESP6500_CDS_SIZES=NM_005400.2:2214;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=36;ESP6500_EA_AC=1637,5925;ESP6500_EA_GTC=210,1217,2354;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005400.2:intron;ESP6500_GL=PRKCE;ESP6500_GRCh38_POSITION=2:45980428;ESP6500_GTC=219,1391,3985;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005400.2:c.693+47C>T;ESP6500_MAF=21.6477,5.2922,16.345;ESP6500_TAC=1829,9361	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1265,117,0
chr2	45984796	rs2595213	T	C	549.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.36;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2595213;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PRKCE|PRKCE|transcript|NM_005400.2|protein_coding|6/14|c.823+116T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4579;p3_1000G_AF=0.914337;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=19394;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46211935;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:578,48,0
chr2	46010307	rs1987070	C	A	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.971;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=9.049;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.267;SOR=0.091;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1987070;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|PRKCE|PRKCE|transcript|NM_005400.2|protein_coding|9/14|c.1264-37C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=988;p3_1000G_AF=0.197284;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=21586;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46237446;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=516,2972;ESP6500_AA_GTC=34,448,1262;ESP6500_CDS_SIZES=NM_005400.2:2214;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=120;ESP6500_EA_AC=1989,5449;ESP6500_EA_GTC=288,1413,2018;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005400.2:intron;ESP6500_GL=PRKCE;ESP6500_GRCh38_POSITION=2:46010307;ESP6500_GTC=322,1861,3280;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005400.2:c.1264-37C>A;ESP6500_MAF=26.7411,14.7936,22.927;ESP6500_TAC=2505,8421	GT:AD:DP:GQ:PL	0/1:19,18:37:99:464,0,597
chr2	46086342	rs1143691	C	T	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.505;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.035;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1143691;dbSNPBuildID=102;ANN=T|synonymous_variant|LOW|PRKCE|PRKCE|transcript|NM_005400.2|protein_coding|11/15|c.1572C>T|p.His524His|1769/5520|1572/2214|524/737||;p3_1000G_AA=C|||;p3_1000G_AC=820;p3_1000G_AF=0.163738;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=19794;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.0954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46313481;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=74,3638;ESP6500_AA_GTC=1,72,1783;ESP6500_CDS_SIZES=NM_005400.2:2214;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=91;ESP6500_EA_AC=645,6961;ESP6500_EA_GTC=20,605,3178;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005400.2:coding-synonymous;ESP6500_GL=PRKCE;ESP6500_GRCh38_POSITION=2:46086342;ESP6500_GTC=21,677,4961;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005400.2:c.1572C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005400.2:p.(H524);ESP6500_MAF=8.4801,1.9935,6.3527;ESP6500_TAC=719,10599	GT:AD:DP:GQ:PL	0/1:18,9:27:99:268,0,505
chr2	46151280	rs752620436	T	TACAC	141.06	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNPBuildID=144;ANN=TACAC|intron_variant|MODIFIER|PRKCE|PRKCE|transcript|NM_005400.2|protein_coding|13/14|c.1920+92_1920+95dupACAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,4:4:11:178,11,0
chr2	46356096	rs6743991	C	A	860.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=3.18;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6743991;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|2/15|c.218-55C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3691;p3_1000G_AF=0.737021;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=20425;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46583235;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:889,81,0
chr2	46356139	rs61586942	C	CG	1922.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=1.445;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61586942;dbSNPBuildID=129;ANN=CG|intron_variant|MODIFIER|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|2/15|c.218-12_218-11insG||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:46356139_C_CG:1960,132,0
chr2	46356140	rs142684263	C	CT	1922.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=1.501;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs142684263;dbSNPBuildID=134;ANN=CT|intron_variant|MODIFIER|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|2/15|c.218-11_218-10insT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,41:41:99:1|1:46356139_C_CG:1960,132,0
chr2	46356142	rs75984373;rs35508970;336246	C	T	1931.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=1.662;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75984373;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|2/15|c.218-9C>T||||||;p3_1000G_AC=332;p3_1000G_AF=0.0662939;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=18037;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46583281;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP,INDEL;CLINVAR_AF_TGP=0.2274;CLINVAR_ALLELEID=286519;CLINVAR_CLNDISDB=MedGen:C0152264,Orphanet:ORPHA90042,SNOMED_CT:17342003;CLINVAR_CLNDN=Familial_erythrocytosis;CLINVAR_CLNHGVS=NC_000002.12:g.46356142C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:255490;CLINVAR_GENEINFO=EPAS1:2034;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=75984373	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,44:44:99:1|1:46356139_C_CG:1960,132,0
chr2	46375583	rs7567582	T	C	22.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=0.253;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7567582;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|7/15|c.887-107T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1313;p3_1000G_AF=0.262181;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=20563;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46602722;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:51:51,0,285
chr2	46376532	rs7557402;336258	C	G	596.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.604;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=4.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.01;SOR=0.225;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7557402;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|8/15|c.1035-7C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1565;p3_1000G_AF=0.3125;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=18708;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.504;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46603671;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1257,3149;ESP6500_AA_AGE=429.5+/-342.2;ESP6500_AA_GTC=179,899,1125;ESP6500_CDS_SIZES=NM_001430.4:2613;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=145;ESP6500_EA_AC=4324,4276;ESP6500_EA_AGE=579.4+/-390.9;ESP6500_EA_GTC=1088,2148,1064;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001430.4:intron;ESP6500_GL=EPAS1;ESP6500_GRCh38_POSITION=2:46376532;ESP6500_GTC=1267,3047,2189;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001430.4:c.1035-7C>G;ESP6500_MAF=49.7209,28.5293,42.911;ESP6500_TAC=5581,7425;CLINVAR_AF_ESP=0.4291;CLINVAR_AF_EXAC=0.41038;CLINVAR_AF_TGP=0.3125;CLINVAR_ALLELEID=287200;CLINVAR_CLNDISDB=MedGen:C0152264,Orphanet:ORPHA90042,SNOMED_CT:17342003;CLINVAR_CLNDN=Familial_erythrocytosis;CLINVAR_CLNHGVS=NC_000002.12:g.46376532C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:250565;CLINVAR_GENEINFO=EPAS1:2034;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7557402	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,25:45:99:0|1:46376531_C_A:625,0,520
chr2	46376904	rs11678817	C	T	166.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11678817;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|9/15|c.1249+151C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1297;p3_1000G_AF=0.258986;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=17234;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.4911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46604043;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:195,15,0
chr2	46378520	rs7571218	A	G	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=1.15;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7571218;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|10/15|c.1444-137A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.677;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=21696;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46605659;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:288,0,266
chr2	46378815	rs7598371	G	C	700.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.149;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.448;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.847;SOR=1.135;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7598371;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|EPAS1|EPAS1|transcript|NM_001430.4|protein_coding|11/15|c.1554+48G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1303;p3_1000G_AF=0.260184;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=19797;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.4891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46605954;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=616,3790;ESP6500_AA_AGE=265.9+/-266.9;ESP6500_AA_GTC=49,518,1636;ESP6500_CDS_SIZES=NM_001430.4:2613;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=64;ESP6500_EA_AC=4243,4357;ESP6500_EA_AGE=571.6+/-389.6;ESP6500_EA_GTC=1044,2155,1101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001430.4:intron;ESP6500_GL=EPAS1;ESP6500_GRCh38_POSITION=2:46378815;ESP6500_GTC=1093,2673,2737;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001430.4:c.1554+48G>C;ESP6500_MAF=49.3372,13.9809,37.3597;ESP6500_TAC=4859,8147	GT:AD:DP:GQ:PL	0/1:23,26:49:99:729,0,629
chr2	46480531	rs60236492	C	T	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.495;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.576;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60236492;dbSNPBuildID=129;ANN=T|stop_gained|HIGH|TMEM247|TMEM247|transcript|NM_001145051.2|protein_coding|2/3|c.244C>T|p.Gln82*|265/680|244/659|82/218||WARNING_TRANSCRIPT_INCOMPLETE;LOF=(TMEM247|TMEM247|1|1.00);NMD=(TMEM247|TMEM247|1|1.00);p3_1000G_AA=C|||;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17808;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46707670;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,13:19:99:380,0,163
chr2	46480673	rs775332040	G	GGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGGAGCA	403.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNPBuildID=144;ANN=GGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGGAGCA|disruptive_inframe_insertion|MODERATE|TMEM247|TMEM247|transcript|NM_001145051.2|protein_coding|2/3|c.424_425insAGCAGCACGAGGTGGTGATGGAGCAGCTGCAGCGGGAGC|p.Glu141_Arg142insGlnGlnHisGluValValMetGluGlnLeuGlnArgGlu|446/680|425/659|142/218||WARNING_TRANSCRIPT_INCOMPLETE&INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,8:8:29:441,29,0
chr2	46480747	rs12612916	G	A	302.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.29;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12612916;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|TMEM247|TMEM247|transcript|NM_001145051.2|protein_coding|2/3|c.460G>A|p.Glu154Lys|481/680|460/659|154/218||WARNING_TRANSCRIPT_INCOMPLETE;p3_1000G_AA=G|||;p3_1000G_AC=972;p3_1000G_AF=0.194089;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=15859;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.0398;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46707886;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:38:331,38,0
chr2	46512018	rs3814045	A	G	864.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.82;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3814045;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|ATP6V1E2|ATP6V1E2|transcript|NM_001318063.1|protein_coding|5/5|c.*13T>C|||||13|;p3_1000G_AA=A|||;p3_1000G_AC=2241;p3_1000G_AF=0.447484;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=20034;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.4056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46739157;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1636,2770;ESP6500_AA_AGE=495.0+/-363.1;ESP6500_AA_GTC=321,994,888;ESP6500_CDS_SIZES=NM_080653.3:681;ESP6500_CG=-7.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=51;ESP6500_EA_AC=3460,5140;ESP6500_EA_AGE=503.8+/-376.0;ESP6500_EA_GTC=716,2028,1556;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080653.3:utr-3;ESP6500_GL=ATP6V1E2;ESP6500_GRCh38_POSITION=2:46512018;ESP6500_GTC=1037,3022,2444;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080653.3:c.*13T>C;ESP6500_MAF=40.2326,37.1312,39.1819;ESP6500_TAC=5096,7910	GT:AD:DP:GQ:PL	1/1:0,29:29:87:893,87,0
chr2	46543995	rs6714484	G	C	222.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6714484;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|ATP6V1E2|ATP6V1E2|transcript|NM_001318063.1|protein_coding||c.-31284C>G|||||1438|,C|intron_variant|MODIFIER|RHOQ|RHOQ|transcript|NM_012249.3|protein_coding|2/4|c.201+183G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4410;p3_1000G_AF=0.880591;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=12738;p3_1000G_EAS_AF=0.9167;p3_1000G_EUR_AF=0.7704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46771134;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8783;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:251,18,0
chr2	46760161	rs3768720	T	G	641.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.49;QD=31.99;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3768720;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|SOCS5|SOCS5|transcript|NM_014011.4|protein_coding|2/2|c.*20T>G|||||20|,G|3_prime_UTR_variant|MODIFIER|SOCS5|SOCS5|transcript|NM_144949.2|protein_coding|2/2|c.*20T>G|||||20|;p3_1000G_AA=G|||;p3_1000G_AC=3578;p3_1000G_AF=0.714457;p3_1000G_AFR_AF=0.8956;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=21222;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.5954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=46987300;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3799,593;ESP6500_AA_GTC=1654,491,51;ESP6500_CDS_SIZES=NM_144949.2:1611,NM_014011.4:1611;ESP6500_CG=5.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=29;ESP6500_EA_AC=5484,3102;ESP6500_EA_GTC=1755,1974,564;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144949.2:utr-3,NM_014011.4:utr-3;ESP6500_GL=SOCS5;ESP6500_GRCh38_POSITION=2:46760161;ESP6500_GTC=3409,2465,615;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_144949.2:c.*20T>G,NM_014011.4:c.*20T>G;ESP6500_MAF=36.1286,13.5018,28.4713;ESP6500_TAC=9283,3695	GT:AD:DP:GQ:PL	1/1:0,18:18:54:670,54,0
chr2	46905806	rs7600882	G	T	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.703;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7600882;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171506.2|protein_coding|4/4|c.310-212C>A||||||,T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171509.2|protein_coding|2/2|c.154-212C>A||||||,T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_139279.5|protein_coding|3/3|c.310-212C>A||||||,T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171507.2|protein_coding|3/3|c.310-212C>A||||||,T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171510.2|protein_coding|2/2|c.154-212C>A||||||,T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171508.2|protein_coding|3/3|c.310-212C>A||||||,T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171511.2|protein_coding|2/2|c.253-212C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=900;p3_1000G_AF=0.179712;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=19371;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47132945;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:99:151,0,99
chr2	46917033	rs183764520	G	T	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.339;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.81;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs183764520;dbSNPBuildID=135;ANN=T|upstream_gene_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171506.2|protein_coding||c.-7862C>A|||||1165|,T|upstream_gene_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171509.2|protein_coding||c.-9071C>A|||||1165|,T|upstream_gene_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_139279.5|protein_coding||c.-7862C>A|||||1165|,T|upstream_gene_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171507.2|protein_coding||c.-7862C>A|||||921|,T|upstream_gene_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171510.2|protein_coding||c.-9071C>A|||||921|,T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171508.2|protein_coding|1/3|c.-6-7856C>A||||||,T|intron_variant|MODIFIER|MCFD2|MCFD2|transcript|NM_001171511.2|protein_coding|1/2|c.93-9064C>A||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|1/20|c.-12-151G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16928;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47144172;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:162,0,255
chr2	47023544	rs2304291	C	T	572.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.223;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.049;SOR=1.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304291;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|13/20|c.1568+79C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|14/20|c.1466+79C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|12/18|c.506+79C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|13/19|c.1568+79C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=31;p3_1000G_AF=0.0061901;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17345;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47250683;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,21:43:99:0|1:47023542_C_A:601,0,502
chr2	47024330	rs2304290	G	C	1164.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304290;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|14/21|c.1612G>C|p.Val538Leu|1980/5230|1612/2649|538/882||,C|missense_variant|MODERATE|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|15/21|c.1510G>C|p.Val504Leu|1971/5149|1510/2475|504/824||,C|missense_variant|MODERATE|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|13/19|c.550G>C|p.Val184Leu|1822/5000|550/1515|184/504||,C|missense_variant|MODERATE|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|14/20|c.1612G>C|p.Val538Leu|1980/5158|1612/2577|538/858||;p3_1000G_AA=G|||;p3_1000G_AC=1353;p3_1000G_AF=0.270168;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=2519;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.1332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47251469;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1008,3398;ESP6500_AA_AGE=373.4+/-320.8;ESP6500_AA_GTC=121,766,1316;ESP6500_CDS_SIZES=NM_020458.2:2577;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=86;ESP6500_EA_AC=1215,7385;ESP6500_EA_AGE=244.6+/-273.7;ESP6500_EA_GTC=93,1029,3178;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020458.2:missense;ESP6500_GL=TTC7A;ESP6500_GRCh38_POSITION=2:47024330;ESP6500_GS=32;ESP6500_GTC=214,1795,4494;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020458.2:c.1612G>C;ESP6500_HGVS_PROTEIN_VAR=NM_020458.2:p.(V538L);ESP6500_MAF=14.1279,22.8779,17.0921;ESP6500_PH=benign:0.002;ESP6500_TAC=2223,10783	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1193,102,0
chr2	47024495	rs6713052	T	C	403.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.54;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6713052;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|14/20|c.1641+136T>C||||||,C|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|15/20|c.1539+136T>C||||||,C|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|13/18|c.579+136T>C||||||,C|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|14/19|c.1641+136T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3608;p3_1000G_AF=0.720447;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=21808;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.4523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47251634;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:432,33,0
chr2	47029158	rs2304289	C	T	608.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=5.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304289;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|14/20|c.1642-66C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|15/20|c.1540-66C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|13/18|c.580-66C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|14/19|c.1642-66C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1413;p3_1000G_AF=0.282149;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=20866;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.1302;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47256297;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:637,51,0
chr2	47029479	rs7575628	A	G	633.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7575628;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|15/20|c.1802+95A>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|16/20|c.1700+95A>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|14/18|c.740+95A>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|15/19|c.1802+95A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1939;p3_1000G_AF=0.387181;p3_1000G_AFR_AF=0.4773;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=21035;p3_1000G_EAS_AF=0.6438;p3_1000G_EUR_AF=0.2296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47256618;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:662,57,0
chr2	47046529	rs12712986	G	A	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.354;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=0.125;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12712986;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|16/20|c.1919+98G>A||||||,A|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|17/20|c.1817+98G>A||||||,A|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|15/18|c.857+98G>A||||||,A|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|16/19|c.1919+98G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1143;p3_1000G_AF=0.228235;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=20626;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47273668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,15:20:99:432,0,153
chr2	47047304	rs4953451	G	T	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.26;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4953451;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|17/21|c.1958G>T|p.Arg653Met|2326/5230|1958/2649|653/882||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|17/20|c.1817+873G>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|15/18|c.857+873G>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|16/19|c.1919+873G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=409;p3_1000G_AF=0.0816693;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=20017;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47274443;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:270,0,174
chr2	47049904	rs2304287	C	G	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.52;ReadPosRankSum=-0.011;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304287;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|17/20|c.1992-45C>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|17/20|c.1818-45C>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|15/18|c.858-45C>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|16/19|c.1920-45C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=846;p3_1000G_AF=0.16893;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=20071;p3_1000G_EAS_AF=0.1716;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47277043;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=606,3798;ESP6500_AA_AGE=259.5+/-263.1;ESP6500_AA_GTC=42,522,1638;ESP6500_CDS_SIZES=NM_020458.2:2577;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=32;ESP6500_EA_AC=2021,6579;ESP6500_EA_AGE=340.7+/-323.7;ESP6500_EA_GTC=250,1521,2529;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020458.2:intron;ESP6500_GL=TTC7A;ESP6500_GRCh38_POSITION=2:47049904;ESP6500_GTC=292,2043,4167;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020458.2:c.1920-45C>G;ESP6500_MAF=23.5,13.7602,20.2015;ESP6500_TAC=2627,10377	GT:AD:DP:GQ:PL	0/1:6,7:13:99:256,0,144
chr2	47050068	rs3816066	C	A	1676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.4;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816066;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|18/20|c.2089+22C>A||||||,A|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|18/20|c.1915+22C>A||||||,A|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|16/18|c.955+22C>A||||||,A|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|17/19|c.2017+22C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3060;p3_1000G_AF=0.611022;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=20494;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47277207;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=734,3672;ESP6500_AA_GTC=165,404,1634;ESP6500_CDS_SIZES=NM_020458.2:2577;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=57;ESP6500_EA_AC=320,8280;ESP6500_EA_GTC=54,212,4034;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020458.2:intron;ESP6500_GL=TTC7A;ESP6500_GRCh38_POSITION=2:47050068;ESP6500_GTC=219,616,5668;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020458.2:c.2017+22C>A;ESP6500_MAF=3.7209,16.6591,8.104;ESP6500_TAC=1054,11952	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,38:38:99:1|1:47050068_C_A:1705,114,0
chr2	47050069	rs3816065;rs60758066	A	G	1676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816065;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|18/20|c.2089+23A>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|18/20|c.1915+23A>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|16/18|c.955+23A>G||||||,G|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|17/19|c.2017+23A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3070;p3_1000G_AF=0.613019;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=20609;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47277208;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=825,3581;ESP6500_AA_GTC=236,353,1614;ESP6500_CDS_SIZES=NM_020458.2:2577;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=57;ESP6500_EA_AC=317,8283;ESP6500_EA_GTC=64,189,4047;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020458.2:intron;ESP6500_GL=TTC7A;ESP6500_GRCh38_POSITION=2:47050069;ESP6500_GTC=300,542,5661;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020458.2:c.2017+23A>G;ESP6500_MAF=3.686,18.7245,8.7806;ESP6500_TAC=1142,11864	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,38:38:99:1|1:47050068_C_A:1705,114,0
chr2	47051647	rs34012189	G	T	21.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-0.076;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34012189;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|18/20|c.2090-99G>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|18/20|c.1916-99G>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|16/18|c.956-99G>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|17/19|c.2018-99G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=652;p3_1000G_AF=0.130192;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=17988;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0.1998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47278786;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:50:50,0,308
chr2	47051684	rs17482356	C	T	87.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.709;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.49;ReadPosRankSum=1.02;SOR=0.301;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17482356;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|18/20|c.2090-62C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|18/20|c.1916-62C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|16/18|c.956-62C>T||||||,T|intron_variant|MODIFIER|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|17/19|c.2018-62C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=602;p3_1000G_AF=0.120208;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=19548;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0.1988;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47278823;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,5:16:99:116,0,353
chr2	47051762	rs3739100	G	A	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.39;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.118;SOR=0.797;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739100;dbSNPBuildID=107;ANN=A|sequence_feature|MODERATE|TTC7A|TTC7A|modified-residue:Phosphoserine|NM_001288951.1|protein_coding|19/21|c.2106G>A||||||,A|sequence_feature|MODERATE|TTC7A|TTC7A|modified-residue:Phosphoserine|NM_020458.3|protein_coding|18/20|c.2034G>A||||||,A|synonymous_variant|LOW|TTC7A|TTC7A|transcript|NM_001288951.1|protein_coding|19/21|c.2106G>A|p.Ser702Ser|2474/5230|2106/2649|702/882||,A|synonymous_variant|LOW|TTC7A|TTC7A|transcript|NM_001288953.1|protein_coding|19/21|c.1932G>A|p.Ser644Ser|2393/5149|1932/2475|644/824||,A|synonymous_variant|LOW|TTC7A|TTC7A|transcript|NM_001288955.1|protein_coding|17/19|c.972G>A|p.Ser324Ser|2244/5000|972/1515|324/504||,A|synonymous_variant|LOW|TTC7A|TTC7A|transcript|NM_020458.3|protein_coding|18/20|c.2034G>A|p.Ser678Ser|2402/5158|2034/2577|678/858||;p3_1000G_AA=G|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=16415;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.0378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47278901;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=691,3693;ESP6500_AA_GTC=63,565,1564;ESP6500_CDS_SIZES=NM_020458.2:2577;ESP6500_CG=-10.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=47;ESP6500_EA_AC=261,8305;ESP6500_EA_GTC=4,253,4026;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020458.2:coding-synonymous;ESP6500_GL=TTC7A;ESP6500_GRCh38_POSITION=2:47051762;ESP6500_GTC=67,818,5590;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020458.2:c.2034G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020458.2:p.(S678);ESP6500_MAF=3.0469,15.7619,7.3514;ESP6500_TAC=952,11998	GT:AD:DP:GQ:PL	0/1:17,21:38:99:532,0,428
chr2	47086913	rs1474394	T	C	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.355;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1474394;dbSNPBuildID=88;ANN=C|downstream_gene_variant|MODIFIER|C2orf61|C2orf61|transcript|NM_001163561.1|protein_coding||c.*95A>G|||||78|,C|intergenic_region|MODIFIER|TTC7A-C2orf61|TTC7A-C2orf61|intergenic_region|TTC7A-C2orf61|||n.47086913T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4579;p3_1000G_AF=0.914337;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=21517;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.8718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47314052;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:182,0,129
chr2	47130319	rs58184321	A	G	269.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.64;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs58184321;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|C2orf61|C2orf61|transcript|NM_001163561.1|protein_coding|3/6|c.400-59T>C||||||,G|intron_variant|MODIFIER|C2orf61|C2orf61|transcript|NM_173649.2|protein_coding|3/4|c.400-59T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3541;p3_1000G_AF=0.707069;p3_1000G_AFR_AF=0.3328;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=16880;p3_1000G_EAS_AF=0.9296;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47357458;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=568,816;ESP6500_AA_GTC=121,326,245;ESP6500_CDS_SIZES=NM_173649.2:534,NM_001163561.1:747;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=107;ESP6500_EA_AC=2414,768;ESP6500_EA_GTC=912,590,89;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173649.2:intron,NM_001163561.1:intron;ESP6500_GL=C2orf61;ESP6500_GRCh38_POSITION=2:47130319;ESP6500_GTC=1033,916,334;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173649.2:c.400-59T>C,NM_001163561.1:c.400-59T>C;ESP6500_MAF=24.1358,41.0405,34.6912;ESP6500_TAC=2982,1584	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:47130319_A_G:298,21,0
chr2	47153064	rs815809	T	C	58.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.365;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.9;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs815809;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|C2orf61|C2orf61|transcript|NM_001163561.1|protein_coding|1/6|c.82-48A>G||||||,C|intron_variant|MODIFIER|C2orf61|C2orf61|transcript|NM_173649.2|protein_coding|1/4|c.82-48A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3143;p3_1000G_AF=0.627596;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=16464;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.7823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47380203;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1516,2888;ESP6500_AA_AGE=458.2+/-351.9;ESP6500_AA_GTC=271,974,957;ESP6500_CDS_SIZES=NM_173649.2:534,NM_001163561.1:747;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=48;ESP6500_EA_AC=6633,1961;ESP6500_EA_AGE=713.6+/-406.0;ESP6500_EA_GTC=2560,1513,224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173649.2:intron,NM_001163561.1:intron;ESP6500_GL=C2orf61;ESP6500_GRCh38_POSITION=2:47153064;ESP6500_GTC=2831,2487,1181;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173649.2:c.82-48A>G,NM_001163561.1:c.82-48A>G;ESP6500_MAF=22.8182,34.4233,37.3057;ESP6500_TAC=8149,4849	GT:AD:DP:GQ:PL	0/1:8,4:12:87:87,0,227
chr2	47155075	rs815806	C	G	402.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs815806;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|C2orf61|C2orf61|transcript|NM_001163561.1|protein_coding|1/6|c.81+96G>C||||||,G|intron_variant|MODIFIER|C2orf61|C2orf61|transcript|NM_173649.2|protein_coding|1/4|c.81+96G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4977;p3_1000G_AF=0.99381;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=16229;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47382214;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:431,36,0
chr2	47161625	rs113581500	TCA	T	138.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.732;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.124;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs113581500;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305624.1|protein_coding|6/6|c.565+96_565+97delTG||||||,T|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305626.1|protein_coding|4/4|c.313+96_313+97delTG||||||,T|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001743.5|protein_coding|5/5|c.421+96_421+97delTG||||||,T|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305625.1|protein_coding|5/5|c.313+96_313+97delTG||||||	GT:AD:DP:GQ:PL	0/1:7,7:14:99:176,0,176
chr2	47161626	rs2454084	C	G	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.213;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.247;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2454084;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305624.1|protein_coding|6/6|c.565+97G>C||||||,G|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305626.1|protein_coding|4/4|c.313+97G>C||||||,G|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001743.5|protein_coding|5/5|c.421+97G>C||||||,G|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305625.1|protein_coding|5/5|c.313+97G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4479;p3_1000G_AF=0.894369;p3_1000G_AFR_AF=0.8722;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=19495;p3_1000G_EAS_AF=0.9226;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47388765;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:176,0,176
chr2	47161705	rs2016682;384720	T	C	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.146;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2016682;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305624.1|protein_coding|6/6|c.565+18A>G||||||,C|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305626.1|protein_coding|4/4|c.313+18A>G||||||,C|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001743.5|protein_coding|5/5|c.421+18A>G||||||,C|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305625.1|protein_coding|5/5|c.313+18A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=261;p3_1000G_AF=0.0521166;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=19434;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47388844;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=14,4392;ESP6500_AA_AGE=20.2+/-43.8;ESP6500_AA_GTC=0,14,2189;ESP6500_CDS_SIZES=NM_001743.4:450;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=126;ESP6500_EA_AC=58,8542;ESP6500_EA_AGE=35.3+/-89.8;ESP6500_EA_GTC=1,56,4243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001743.4:intron;ESP6500_GL=CALM2;ESP6500_GRCh38_POSITION=2:47161705;ESP6500_GTC=1,70,6432;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001743.4:c.421+18A>G;ESP6500_MAF=0.6744,0.3177,0.5536;ESP6500_TAC=72,12934;CLINVAR_ALLELEID=366604;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47161705T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CALM2:805;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2016682	GT:AD:DP:GQ:PL	0/1:13,14:27:99:445,0,320
chr2	47162203	rs3729954	A	C	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.291;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.616;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3729954;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305624.1|protein_coding|5/6|c.429+83T>G||||||,C|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305626.1|protein_coding|3/4|c.177+83T>G||||||,C|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001743.5|protein_coding|4/5|c.285+83T>G||||||,C|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305625.1|protein_coding|4/5|c.177+83T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1027;p3_1000G_AF=0.205072;p3_1000G_AFR_AF=0.4312;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=20191;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47389342;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:185,0,117
chr2	47172462	rs4953472	A	G	850.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.666;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-0.749;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4953472;dbSNPBuildID=111;ANN=G|splice_region_variant&intron_variant|LOW|CALM2|CALM2|transcript|NM_001305624.1|protein_coding|1/6|c.102-3T>C||||||,G|5_prime_UTR_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305626.1|protein_coding|1/5|c.-1803T>C|||||9874|,G|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001743.5|protein_coding|1/5|c.4-1698T>C||||||,G|intron_variant|MODIFIER|CALM2|CALM2|transcript|NM_001305625.1|protein_coding|1/5|c.-105-1698T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=794;p3_1000G_AF=0.158546;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=18022;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0.0706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47399601;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,28:43:99:879,0,356
chr2	47369714	rs144077629	C	CG	572.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.389;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=0.351;SOR=0.307;INS;HET;VARTYPE=INS;dbSNP138_ID=rs144077629;dbSNPBuildID=134;ANN=CG|intron_variant|MODIFIER|EPCAM|EPCAM|transcript|NM_002354.2|protein_coding|1/8|c.76+135dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|GG|GGG|unsure;p3_1000G_AC=691;p3_1000G_AF=0.137979;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=13272;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47596853;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:14,20:34:99:610,0,398
chr2	47373967	rs1126497;183700	T	C	804.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.75;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1126497;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|EPCAM|EPCAM|transcript|NM_002354.2|protein_coding|3/9|c.344T>C|p.Met115Thr|702/1718|344/945|115/314||,C|sequence_feature|LOW|EPCAM|EPCAM|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_002354.2|protein_coding|3/9|c.344T>C||||||,C|upstream_gene_variant|MODIFIER|MIR559|MIR559|transcript|NR_030286.1|pseudogene||n.-3708T>C|||||3708|;p3_1000G_AA=C|||;p3_1000G_AC=3336;p3_1000G_AF=0.666134;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.5159;p3_1000G_AN=5008;p3_1000G_DP=17137;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.4692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47601106;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3649,757;ESP6500_AA_AGE=305.5+/-289.0;ESP6500_AA_GTC=1530,589,84;ESP6500_CDS_SIZES=NM_002354.2:945;ESP6500_CG=1.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=3722,4878;ESP6500_EA_AGE=618.5+/-396.8;ESP6500_EA_GTC=801,2120,1379;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002354.2:missense;ESP6500_GL=EPCAM;ESP6500_GRCh38_POSITION=2:47373967;ESP6500_GS=81;ESP6500_GTC=2331,2709,1463;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002354.2:c.344T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002354.2:p.(M115T);ESP6500_MAF=43.2791,17.1811,43.3262;ESP6500_PH=benign:0.0;ESP6500_TAC=7371,5635;CLINVAR_ALLELEID=181861;CLINVAR_CLNDISDB=MedGen:C0009405,Orphanet:ORPHA443090|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:C2936783,OMIM:120435|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_nonpolyposis_colon_cancer|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome|Lynch_syndrome_I|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47373967T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24741|UniProtKB_(protein):P16422#VAR_018329;CLINVAR_GENEINFO=EPCAM:4072;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1126497	GT:AD:DP:GQ:PL	1/1:0,29:29:87:833,87,0
chr2	47374118	rs4399765	T	C	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.167;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=1.29;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4399765;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|MIR559|MIR559|transcript|NR_030286.1|pseudogene||n.-3557T>C|||||3557|,C|intron_variant|MODIFIER|EPCAM|EPCAM|transcript|NM_002354.2|protein_coding|3/8|c.425+70T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=711;p3_1000G_AF=0.141973;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=16041;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.1074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47601257;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:193,0,122
chr2	47375102	rs35079997	T	C	117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=0.816;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35079997;dbSNPBuildID=126;ANN=C|upstream_gene_variant|MODIFIER|MIR559|MIR559|transcript|NR_030286.1|pseudogene||n.-2573T>C|||||2573|,C|intron_variant|MODIFIER|EPCAM|EPCAM|transcript|NM_002354.2|protein_coding|3/8|c.426-132T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=757;p3_1000G_AF=0.151158;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=18700;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47602241;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:146,0,127
chr2	47385017	rs4952886	A	G	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.573;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4952886;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|EPCAM|EPCAM|transcript|NM_002354.2|protein_coding|7/8|c.859-149A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=655;p3_1000G_AF=0.130791;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=18305;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47612156;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:139,0,219
chr2	47385085	rs7584256	C	T	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.127;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.178;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7584256;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|EPCAM|EPCAM|transcript|NM_002354.2|protein_coding|7/8|c.859-81C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1807;p3_1000G_AF=0.360823;p3_1000G_AFR_AF=0.3525;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=19813;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47612224;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,12:21:99:288,0,201
chr2	47386629	rs147650232	A	G	55.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.253;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147650232;dbSNPBuildID=134;ANN=G|3_prime_UTR_variant|MODIFIER|EPCAM|EPCAM|transcript|NM_002354.2|protein_coding|9/9|c.*16A>G|||||16|;p3_1000G_AA=A|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16902;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47613768;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_002354.2:945;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=59;ESP6500_EA_AC=4,8590;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=0,4,4293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002354.2:utr-3;ESP6500_GL=EPCAM;ESP6500_GRCh38_POSITION=2:47386629;ESP6500_GTC=0,4,6496;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002354.2:c.*16A>G;ESP6500_MAF=0.0465,0.0,0.0308;ESP6500_TAC=4,12996	GT:AD:DP:GQ:PL	0/1:1,4:5:25:84,0,25
chr2	47403411	rs2303426;36573	C	G	796.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2303426;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|1/15|c.211+9C>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|2/16|c.13+9C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3147;p3_1000G_AF=0.628395;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=13216;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47630550;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA_AC=3025,1241;ESP6500_AA_GTC=1137,751,245;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...4436&amp%3Brs...2303426;ESP6500_CDS_SIZES=NM_001258281.1:2607,NM_000251.2:2805;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=8;ESP6500_EA_AC=3011,5407;ESP6500_EA_GTC=602,1807,1800;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001258281.1:intron,NM_000251.2:intron;ESP6500_GL=MSH2;ESP6500_GRCh38_POSITION=2:47403411;ESP6500_GTC=1739,2558,2045;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001258281.1:c.13+9C>G,NM_000251.2:c.211+9C>G;ESP6500_MAF=35.7686,29.0905,47.5875;ESP6500_TAC=6036,6648;CLINVAR_AF_ESP=0.4759;CLINVAR_ALLELEID=45235;CLINVAR_CLNDISDB=MedGen:C0009405,Orphanet:ORPHA443090|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:C2936783,OMIM:120435|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_nonpolyposis_colon_cancer|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome|Lynch_syndrome_I|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47403411C>G;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:3117|Illumina_Clinical_Services_Laboratory,Illumina:24768|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.211+9C>G;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303426	GT:AD:DP:GQ:PL	1/1:0,25:25:75:825,75,0
chr2	47403500	rs3815865;90891	T	C	80.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3815865;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|1/15|c.211+98T>C||||||,C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|2/16|c.13+98T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3141;p3_1000G_AF=0.627196;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=13995;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.4334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47630639;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;CLINVAR_ALLELEID=96366;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47403500T>C;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.211+98T>C;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3815865	GT:AD:DP:GQ:PL	1/1:0,3:3:9:108,9,0
chr2	47407996	rs2162123	A	G	511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2162123;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|1/15|c.212-405A>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|2/16|c.14-405A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3167;p3_1000G_AF=0.632388;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=21020;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.4334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47635135;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:47407996_A_G:540,36,0
chr2	47407997	rs2162122	T	G	511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2162122;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|1/15|c.212-404T>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|2/16|c.14-404T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3167;p3_1000G_AF=0.632388;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=21026;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.4334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47635136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:47407996_A_G:540,36,0
chr2	47416607	rs398080226;rs66560884	GT	G	47.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.75;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66560884;dbSNPBuildID=137,138;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|6/15|c.1076+190delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|7/16|c.878+190delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:84,9,0
chr2	47427646	rs6741139	G	T	526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.35;QD=27.72;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6741139;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|6/15|c.1077-2096G>T||||||,T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|7/16|c.879-2096G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2729;p3_1000G_AF=0.544928;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=16725;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.4076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47654785;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:555,57,0
chr2	47428784	rs17224339	A	G	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.832;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.81;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17224339;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|6/15|c.1077-958A>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|7/16|c.879-958A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=903;p3_1000G_AF=0.180312;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=20163;p3_1000G_EAS_AF=0.5367;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47655923;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,12:29:99:354,0,586
chr2	47429662	rs2347794;36564	G	A	111.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.38;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2347794;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|6/15|c.1077-80G>A||||||,A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|7/16|c.879-80G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2973;p3_1000G_AF=0.59365;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=17354;p3_1000G_EAS_AF=0.6875;p3_1000G_EUR_AF=0.4205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47656801;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;CLINVAR_ALLELEID=45226;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47429662G>A;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1077-80G>A;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2347794	GT:AD:DP:GQ:PL	1/1:0,5:5:15:140,15,0
chr2	47436706	rs3771274;90598	G	A	2646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=1.204;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3771274;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|7/15|c.1276+6765G>A||||||,A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|8/16|c.1078+6765G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3001;p3_1000G_AF=0.599241;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=20996;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.4205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47663845;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;CLINVAR_ALLELEID=96073;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47436706G>A;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1276+6765G>A;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3771274	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2675,267,0
chr2	47438480	rs11894352	T	G	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.065;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.48;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.922;SOR=1.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11894352;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|7/15|c.1277-7068T>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|8/16|c.1079-7068T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1370;p3_1000G_AF=0.273562;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=22070;p3_1000G_EAS_AF=0.5119;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47665619;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,18:36:99:542,0,484
chr2	47443165	rs6726691	G	C	1349.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=0.735;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6726691;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|7/15|c.1277-2383G>C||||||,C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|8/16|c.1079-2383G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2207;p3_1000G_AF=0.440695;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=19944;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.2992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47670304;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1378,141,0
chr2	47443251	rs6726832	G	A	1144.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6726832;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|7/15|c.1277-2297G>A||||||,A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|8/16|c.1079-2297G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2997;p3_1000G_AF=0.598442;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=19836;p3_1000G_EAS_AF=0.6835;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47670390;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,37:37:99:1|1:47443251_G_A:1173,111,0
chr2	47444426	rs7607076	A	G	287.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7607076;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|7/15|c.1277-1122A>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|8/16|c.1079-1122A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2337;p3_1000G_AF=0.466653;p3_1000G_AFR_AF=0.5938;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=17078;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47671565;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:316,27,0
chr2	47444603	rs7607312;90609	A	C	1701.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.111;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.11;ReadPosRankSum=-0.4;SOR=0.374;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7607312;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|7/15|c.1277-945A>C||||||,C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|8/16|c.1079-945A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3011;p3_1000G_AF=0.601238;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=17633;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47671742;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP;CLINVAR_ALLELEID=96084;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47444603A>C;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-945A>C;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7607312	GT:AD:DP:GQ:PL	1/1:1,52:53:99:1730,122,0
chr2	47445336	rs1981928;90603	T	A	1379.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1981928;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|7/15|c.1277-212T>A||||||,A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|8/16|c.1079-212T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2398;p3_1000G_AF=0.478834;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=18355;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47672475;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.4788;CLINVAR_ALLELEID=96078;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47445336T>A;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-212T>A;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1981928	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1408,138,0
chr2	47445430	rs1981929;90599	G	A	2069.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=1.011;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1981929;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|7/15|c.1277-118G>A||||||,A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|8/16|c.1079-118G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3980;p3_1000G_AF=0.794728;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=17667;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47672569;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP;CLINVAR_ALLELEID=96074;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47445430G>A;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1277-118G>A;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1981929	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2098,210,0
chr2	47446376	rs7602094	T	C	124.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7602094;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|8/15|c.1386+719T>C||||||,C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|9/16|c.1188+719T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2389;p3_1000G_AF=0.477037;p3_1000G_AFR_AF=0.6573;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=16769;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47673515;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:152,12,0
chr2	47446472	rs10673567;rs10681296	T	TTTC	946.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.53;SOR=1.508;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10673567,rs10681296;dbSNPBuildID=126,126;ANN=TTTC|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|8/15|c.1386+817_1386+818insCTT||||||INFO_REALIGN_3_PRIME,TTTC|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|9/16|c.1188+817_1188+818insCTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2999;p3_1000G_AF=0.598842;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=17215;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.4215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47673611;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,21:21:66:984,66,0
chr2	47446589	rs1160731911	C	A	522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.856;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-1.583;SOR=0.507;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|8/15|c.1386+932C>A||||||,A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|9/16|c.1188+932C>A||||||	GT:AD:DP:GQ:PL	0/1:12,23:35:99:551,0,337
chr2	47452213	rs71399031	C	CT	55.37	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.46;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs66713635,rs71399031;dbSNPBuildID=130;ANN=CT|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|8/15|c.1386+6564dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|9/16|c.1188+6564dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:8:92,8,0
chr2	47452222	rs572009706	C	CTTTTTTTTTT	136.88	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.93;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNPBuildID=142;ANN=CTTTTTTTTTT|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|8/15|c.1386+6567_1386+6576dupTTTTTTTTTT||||||INFO_REALIGN_3_PRIME,CTTTTTTTTTT|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|9/16|c.1188+6567_1188+6576dupTTTTTTTTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:15:164,15,0
chr2	47456719	rs6758327	C	T	503.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6758327;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|8/15|c.1387-6312C>T||||||,T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|9/16|c.1189-6312C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3020;p3_1000G_AF=0.603035;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=19086;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.4443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47683858;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:532,48,0
chr2	47465142	rs3771281;90687	C	T	3631.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=121;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=0.85;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3771281;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|9/15|c.1511-1516C>T||||||,T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|10/16|c.1313-1516C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2788;p3_1000G_AF=0.556709;p3_1000G_AFR_AF=0.7678;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=21983;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47692281;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP;CLINVAR_ALLELEID=96162;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47465142C>T;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1511-1516C>T;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3771281	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3660,363,0
chr2	47466567	rs3732182;90689	G	T	540.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3732182;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|9/15|c.1511-91G>T||||||,T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|10/16|c.1313-91G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2419;p3_1000G_AF=0.483027;p3_1000G_AFR_AF=0.6717;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18243;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47693706;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.4830;CLINVAR_ALLELEID=96164;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:CN169374;CLINVAR_CLNDN=Lynch_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47466567G>T;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1511-91G>T;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3732182	GT:AD:DP:GQ:PL	1/1:0,18:18:54:569,54,0
chr2	47466820	rs3732183;36567	G	A	3286.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.01;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3732183;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|10/15|c.1661+12G>A||||||,A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|11/16|c.1463+12G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=17462;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.3012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47693959;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2637,1763;ESP6500_AA_AGE=614.0+/-392.3;ESP6500_AA_GTC=820,997,383;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...4436&amp%3Brs...3732183;ESP6500_CDS_SIZES=NM_001258281.1:2607,NM_000251.2:2805;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=58;ESP6500_EA_AC=2285,6313;ESP6500_EA_AGE=380.9+/-339.8;ESP6500_EA_GTC=310,1665,2324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001258281.1:intron,NM_000251.2:intron;ESP6500_GL=MSH2;ESP6500_GRCh38_POSITION=2:47466820;ESP6500_GTC=1130,2662,2707;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001258281.1:c.1463+12G>A,NM_000251.2:c.1661+12G>A;ESP6500_MAF=26.5759,40.0682,37.8674;ESP6500_TAC=4922,8076;CLINVAR_AF_ESP=0.3787;CLINVAR_AF_EXAC=0.35015;CLINVAR_AF_TGP=0.4834;CLINVAR_ALLELEID=45229;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:C2936783,OMIM:120435|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Lynch_syndrome|Lynch_syndrome_I|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47466820G>A;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24792|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1661+12G>A;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3732183	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3315,318,0
chr2	47467113	rs17224682	C	G	740.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.991;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.986;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.49;ReadPosRankSum=-2.151;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17224682;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|10/15|c.1661+305C>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|11/16|c.1463+305C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=594;p3_1000G_AF=0.11861;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=18014;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.1481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47694252;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,24:38:99:769,0,445
chr2	47467173	rs6754473	T	C	319.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6754473;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|10/15|c.1661+365T>C||||||,C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|11/16|c.1463+365T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2882;p3_1000G_AF=0.575479;p3_1000G_AFR_AF=0.8245;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=13659;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.3946;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47694312;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:348,27,0
chr2	47471169	rs3764959;439907	A	G	305.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3764959;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|11/15|c.1759+107A>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|12/16|c.1561+107A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2511;p3_1000G_AF=0.501398;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=18871;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47698308;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;CLINVAR_ALLELEID=433700;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47471169A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:17910;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3764959	GT:AD:DP:GQ:PL	1/1:0,9:9:27:334,27,0
chr2	47471563	rs17036614;90770	A	G	1902.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.29;ClippingRankSum=0;DP=174;ExcessHet=3.0103;FS=0.56;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.39;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17036614;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|11/15|c.1759+501A>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|12/16|c.1561+501A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=877;p3_1000G_AF=0.17512;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=21809;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47698702;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1751;CLINVAR_ALLELEID=96245;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47471563A>G;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.1759+501A>G;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17036614	GT:AD:DP:GQ:PL	0/1:100,74:174:99:1931,0,2342
chr2	47476102	rs2059520;90846	A	G	2208.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2059520;dbSNPBuildID=94;ANN=G|sequence_feature|LOW|MSH2|MSH2|nucleotide-phosphate-binding-region:ATP|NM_000251.2|protein_coding|12/15|c.2006-265A>G||||||,G|sequence_feature|LOW|MSH2|MSH2|nucleotide-phosphate-binding-region:ATP|NM_001258281.1|protein_coding|13/16|c.1808-265A>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|12/15|c.2006-265A>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|13/16|c.1808-265A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2764;p3_1000G_AF=0.551917;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=19441;p3_1000G_EAS_AF=0.6825;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47703241;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP;CLINVAR_ALLELEID=96321;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47476102A>G;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006-265A>G;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2059520	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2237,198,0
chr2	47476240	rs2059521	C	T	1596.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.71;SOR=0.78;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2059521;dbSNPBuildID=94;ANN=T|sequence_feature|LOW|MSH2|MSH2|nucleotide-phosphate-binding-region:ATP|NM_000251.2|protein_coding|12/15|c.2006-127C>T||||||,T|sequence_feature|LOW|MSH2|MSH2|nucleotide-phosphate-binding-region:ATP|NM_001258281.1|protein_coding|13/16|c.1808-127C>T||||||,T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|12/15|c.2006-127C>T||||||,T|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|13/16|c.1808-127C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=22238;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47703379;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:47476232_G_T:1625,138,0
chr2	47476361	rs2303428;36571	T	C	869.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=3.898;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.929;SOR=0.325;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303428;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|MSH2|MSH2|transcript|NM_000251.2|protein_coding|12/15|c.2006-6T>C||||||,C|splice_region_variant&intron_variant|LOW|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|13/16|c.1808-6T>C||||||,C|sequence_feature|LOW|MSH2|MSH2|nucleotide-phosphate-binding-region:ATP|NM_000251.2|protein_coding|12/15|c.2006-6T>C||||||,C|sequence_feature|LOW|MSH2|MSH2|nucleotide-phosphate-binding-region:ATP|NM_001258281.1|protein_coding|13/16|c.1808-6T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=661;p3_1000G_AF=0.131989;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=22029;p3_1000G_EAS_AF=0.3631;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47703500;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=115,4291;ESP6500_AA_AGE=80.4+/-118.8;ESP6500_AA_GTC=2,111,2090;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...4436&amp%3Brs...2303428;ESP6500_CDS_SIZES=NM_001258281.1:2607,NM_000251.2:2805;ESP6500_CG=5.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=829,7771;ESP6500_EA_AGE=182.3+/-230.8;ESP6500_EA_GTC=47,735,3518;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001258281.1:intron,NM_000251.2:intron;ESP6500_GL=MSH2;ESP6500_GRCh38_POSITION=2:47476361;ESP6500_GTC=49,846,5608;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001258281.1:c.1808-6T>C,NM_000251.2:c.2006-6T>C;ESP6500_MAF=9.6395,2.6101,7.2582;ESP6500_TAC=944,12062;CLINVAR_AF_ESP=0.0726;CLINVAR_AF_EXAC=0.11546;CLINVAR_AF_TGP=0.1320;CLINVAR_ALLELEID=45233;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:C2936783,OMIM:120435|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Lynch_syndrome|Lynch_syndrome_I|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47476361T>C;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=HGMD:CS951474|Illumina_Clinical_Services_Laboratory,Illumina:24806|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2006-6T>C;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303428	GT:AD:DP:GQ:PL	0/1:33,32:65:99:898,0,920
chr2	47476746	rs4583514	G	A	1753.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4583514;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|13/15|c.2210+175G>A||||||,A|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|14/16|c.2012+175G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=20971;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.3976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47703885;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4438;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1782,156,0
chr2	47476845	rs4608577;90923	T	G	802.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.092;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=12.499;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-1.694;SOR=1.351;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4608577;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|13/15|c.2210+274T>G||||||,G|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|14/16|c.2012+274T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=903;p3_1000G_AF=0.180312;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=18399;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47703984;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1803;CLINVAR_ALLELEID=96398;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47476845T>G;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2210+274T>G;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4608577	GT:AD:DP:GQ:PL	0/1:39,32:71:99:831,0,1140
chr2	47476888	rs4638843;90924	G	C	2255.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4638843;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|13/15|c.2210+317G>C||||||,C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|14/16|c.2012+317G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4820;p3_1000G_AF=0.96246;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=17497;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47704027;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP;CLINVAR_ALLELEID=96399;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47476888G>C;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2210+317G>C;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4638843	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2284,204,0
chr2	47476969	rs11886591	G	C	1340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11886591;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|13/15|c.2210+398G>C||||||,C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|14/16|c.2012+398G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3007;p3_1000G_AF=0.600439;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=19293;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47704108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1369,102,0
chr2	47482565	rs2042649;91024	T	C	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-1.101;SOR=1.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2042649;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_000251.2|protein_coding|15/15|c.2635-214T>C||||||,C|intron_variant|MODIFIER|MSH2|MSH2|transcript|NM_001258281.1|protein_coding|16/16|c.2437-214T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=898;p3_1000G_AF=0.179313;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=16440;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.0865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47709704;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1793;CLINVAR_ALLELEID=96499;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47482565T>C;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.2635-214T>C;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2042649	GT:AD:DP:GQ:PL	0/1:12,12:24:99:319,0,287
chr2	47512412	rs2303424;41867	A	G	654.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2303424;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|MSH2-KCNK12|MSH2-KCNK12|intergenic_region|MSH2-KCNK12|||n.47512412A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2644;p3_1000G_AF=0.527955;p3_1000G_AFR_AF=0.6619;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=19653;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.3936;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47739551;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1021,731;ESP6500_AA_GTC=321,379,176;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=26;ESP6500_EA_AC=1440,2542;ESP6500_EA_GTC=258,924,809;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:47512412;ESP6500_GTC=579,1303,985;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=36.1627,41.7237,42.9194;ESP6500_TAC=2461,3273;CLINVAR_AF_ESP=0.4292;CLINVAR_AF_EXAC=0.45795;CLINVAR_ALLELEID=50306;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.47512412A>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MSH2:4436;CLINVAR_ORIGIN=1;CLINVAR_RS=2303424	GT:AD:DP:GQ:PL	1/1:0,21:21:63:683,63,0
chr2	47521153	rs2278139	A	G	287.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278139;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|KCNK12|KCNK12|transcript|NM_022055.1|protein_coding|2/2|c.1047T>C|p.Gly349Gly|1047/1424|1047/1293|349/430||;p3_1000G_AA=G|||;p3_1000G_AC=2964;p3_1000G_AF=0.591853;p3_1000G_AFR_AF=0.8601;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=7553;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.4066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=47748292;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:316,24,0
chr2	47783349	rs1042821;36581	G	A	856.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.538;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=4.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=0.239;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1042821;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|MSH6|MSH6|transcript|NM_000179.2|protein_coding|1/10|c.116G>A|p.Gly39Glu|268/4328|116/4083|39/1360||,A|missense_variant|MODERATE|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|1/8|c.116G>A|p.Gly39Glu|268/3938|116/3693|39/1230||,A|5_prime_UTR_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|1/9|c.-621G>A|||||15541|,A|upstream_gene_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding||c.-15541G>A|||||606|;p3_1000G_AA=G|||;p3_1000G_AC=1006;p3_1000G_AF=0.200879;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=8671;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48010488;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=758,3150;ESP6500_AA_GTC=69,620,1265;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...2956&amp%3Brs...1042821;ESP6500_CDS_SIZES=NM_000179.2:4083;ESP6500_CG=2.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=10;ESP6500_EA_AC=1336,6412;ESP6500_EA_GTC=124,1088,2662;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000179.2:missense;ESP6500_GL=MSH6;ESP6500_GRCh38_POSITION=2:47783349;ESP6500_GS=98;ESP6500_GTC=193,1708,3927;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000179.2:c.116G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000179.2:p.(G39E);ESP6500_MAF=17.2432,19.3961,17.965;ESP6500_PH=benign:0.002;ESP6500_TAC=2094,9562;CLINVAR_AF_ESP=0.1797;CLINVAR_AF_EXAC=0.21409;CLINVAR_AF_TGP=0.2009;CLINVAR_ALLELEID=45243;CLINVAR_CLNDISDB=MedGen:C0009405,Orphanet:ORPHA443090|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:C1833477,OMIM:614350|MedGen:C2936783,OMIM:120435|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_nonpolyposis_colon_cancer|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|Lynch_syndrome_I|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.47783349G>A;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:3166|HGMD:CM092149|Illumina_Clinical_Services_Laboratory,Illumina:24831|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.116G>A_2|UniProtKB_(protein):P52701#VAR_004490;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1042821	GT:AD:DP:GQ:PL	0/1:18,36:54:99:885,0,406
chr2	47795842	rs1800934;89532	G	T	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.028;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-1.85;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1800934;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_000179.2|protein_coding|2/9|c.458-52G>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|1/7|c.238-2769G>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|2/8|c.-279-2769G>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|2/9|c.-445-52G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1124;p3_1000G_AF=0.224441;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=16388;p3_1000G_EAS_AF=0.2718;p3_1000G_EUR_AF=0.1779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48022981;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=535,1217;ESP6500_AA_GTC=82,371,423;ESP6500_CDS_SIZES=NM_000179.2:4083;ESP6500_CG=0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=13;ESP6500_EA_AC=760,3214;ESP6500_EA_GTC=75,610,1302;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000179.2:intron;ESP6500_GL=MSH6;ESP6500_GRCh38_POSITION=2:47795842;ESP6500_GTC=157,981,1725;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000179.2:c.458-52G>T;ESP6500_MAF=19.1243,30.5365,22.6161;ESP6500_TAC=1295,4431;CLINVAR_AF_ESP=0.2262;CLINVAR_AF_TGP=0.2244;CLINVAR_ALLELEID=95006;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47795842G>T;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.458-52G>T;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1800934	GT:AD:DP:GQ:PL	0/1:8,7:15:99:210,0,224
chr2	47797737	rs3136329;89544	C	T	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.663;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=1.76;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3136329;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_000179.2|protein_coding|3/9|c.628-874C>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|1/7|c.238-874C>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|2/8|c.-279-874C>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|3/9|c.-275-878C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3695;p3_1000G_AF=0.737819;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=21131;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.5596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48024876;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP;CLINVAR_ALLELEID=95018;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47797737C>T;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.628-874C>T;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3136329	GT:AD:DP:GQ:PL	0/1:23,16:39:99:375,0,625
chr2	47803319	rs2072447;89345	G	C	764.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.185;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.545;SOR=0.904;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072447;dbSNPBuildID=96;ANN=C|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding||c.*4799C>G|||||3601|,C|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding||c.*4799C>G|||||3601|,C|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_000179.2|protein_coding|4/9|c.3173-101G>C||||||,C|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|2/7|c.2783-101G>C||||||,C|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|3/8|c.2267-101G>C||||||,C|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|4/9|c.2267-101G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4119;p3_1000G_AF=0.822484;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=19819;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.7068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48030458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;CLINVAR_ALLELEID=94819;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:CN169374;CLINVAR_CLNDN=Lynch_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47803319G>C;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3173-101G>C;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2072447	GT:AD:DP:GQ:PL	0/1:36,30:66:99:793,0,1074
chr2	47803699	rs2020911;42471	A	T	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.815;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.103;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2020911;dbSNPBuildID=96;ANN=T|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding||c.*4419T>A|||||3221|,T|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding||c.*4419T>A|||||3221|,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_000179.2|protein_coding|5/9|c.3438+14A>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|3/7|c.3048+14A>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|4/8|c.2532+14A>T||||||,T|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|5/9|c.2532+14A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2008;p3_1000G_AF=0.400958;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=19358;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.3608;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48030838;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=810,3596;ESP6500_AA_AGE=297.6+/-284.8;ESP6500_AA_GTC=92,626,1485;ESP6500_CDS_SIZES=NM_000179.2:4083;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=69;ESP6500_EA_AC=3282,5318;ESP6500_EA_AGE=473.9+/-368.7;ESP6500_EA_GTC=606,2070,1624;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000179.2:intron;ESP6500_GL=MSH6;ESP6500_GRCh38_POSITION=2:47803699;ESP6500_GTC=698,2696,3109;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_000179.2:c.3438+14A>T;ESP6500_MAF=38.1628,18.384,31.4624;ESP6500_TAC=4092,8914;CLINVAR_AF_ESP=0.3146;CLINVAR_AF_EXAC=0.40426;CLINVAR_AF_TGP=0.4010;CLINVAR_ALLELEID=51641;CLINVAR_CLNDISDB=MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:C1833477,OMIM:614350|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_cancer-predisposing_syndrome|Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47803699A>T;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24867|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3438+14A>T;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2020911	GT:AD:DP:GQ:PL	0/1:18,17:35:99:465,0,571
chr2	47805173	rs7562048;89410	G	A	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.273;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.735;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7562048;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding||c.*2945C>T|||||1747|,A|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding||c.*2945C>T|||||1747|,A|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_000179.2|protein_coding|6/9|c.3556+146G>A||||||,A|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|4/7|c.3166+146G>A||||||,A|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|5/8|c.2650+146G>A||||||,A|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|6/9|c.2650+146G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3367;p3_1000G_AF=0.672324;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=18462;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.4851;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48032312;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP;CLINVAR_ALLELEID=94884;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.47805173G>A;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3556+146G>A;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7562048	GT:AD:DP:GQ:PL	0/1:6,13:19:99:380,0,157
chr2	47805735	rs2234731;89429	ACTAT	A	749.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.007;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=0.653;SOR=0.776;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs2234731,rs3136358;dbSNPBuildID=98;ANN=A|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding||c.*2379_*2382delATAG|||||1184|,A|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding||c.*2379_*2382delATAG|||||1184|,A|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_000179.2|protein_coding|7/9|c.3646+35_3646+38delATCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|5/7|c.3256+35_3256+38delATCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|6/8|c.2740+35_2740+38delATCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|7/9|c.2740+35_2740+38delATCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3817;p3_1000G_AF=0.762181;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=17508;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48032874;p3_1000G_GRCH37_REF=ACTAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=INDEL;ESP6500_AA_AC=3368,886;ESP6500_AA_GTC=1344,680,103;ESP6500_CDS_SIZES=NM_000179.2:4083;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=57;ESP6500_EA_AC=5477,2761;ESP6500_EA_GTC=1834,1809,476;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000179.2:intron;ESP6500_GL=MSH6;ESP6500_GRCh38_POSITION=2:47805735;ESP6500_GTC=3178,2489,579;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000179.2:c.3646+29_3646+32del4;ESP6500_MAF=33.5154,20.8275,29.1947;ESP6500_TAC=8845,3647;CLINVAR_ALLELEID=94903;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:CN169374;CLINVAR_CLNDN=Lynch_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47805742_47805745delATCT;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3646+35_3646+38del;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2234731	GT:AD:DP:GQ:PL	0/1:20,21:41:99:787,0,911
chr2	47805798	rs3136359;89432	T	C	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=6.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.579;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3136359;dbSNPBuildID=103;ANN=C|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding||c.*2320A>G|||||1122|,C|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding||c.*2320A>G|||||1122|,C|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_000179.2|protein_coding|7/9|c.3646+91T>C||||||,C|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|5/7|c.3256+91T>C||||||,C|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|6/8|c.2740+91T>C||||||,C|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|7/9|c.2740+91T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4078;p3_1000G_AF=0.814297;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=18258;p3_1000G_EAS_AF=0.876;p3_1000G_EUR_AF=0.7127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48032937;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP;CLINVAR_ALLELEID=94906;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:CN169374;CLINVAR_CLNDN=Lynch_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47805798T>C;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3646+91T>C;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3136359	GT:AD:DP:GQ:PL	0/1:12,8:20:99:273,0,396
chr2	47806412	rs3136367;36594	C	G	1001.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.626;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.626;SOR=0.768;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3136367;dbSNPBuildID=103;ANN=G|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding||c.*1706G>C|||||508|,G|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding||c.*1706G>C|||||508|,G|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_000179.2|protein_coding|8/9|c.3802-40C>G||||||,G|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|6/7|c.3412-40C>G||||||,G|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|7/8|c.2896-40C>G||||||,G|intron_variant|MODIFIER|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|8/9|c.2896-40C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4052;p3_1000G_AF=0.809105;p3_1000G_AFR_AF=0.938;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=19084;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.7038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48033551;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4020,386;ESP6500_AA_AGE=183.3+/-210.9;ESP6500_AA_GTC=1838,344,21;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...2956&amp%3Brs...3136367;ESP6500_CDS_SIZES=NM_000179.2:4083;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=67;ESP6500_EA_AC=6217,2381;ESP6500_EA_AGE=372.9+/-336.8;ESP6500_EA_GTC=2257,1703,339;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000179.2:intron;ESP6500_GL=MSH6;ESP6500_GRCh38_POSITION=2:47806412;ESP6500_GTC=4095,2047,360;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_000179.2:c.3802-40C>G;ESP6500_MAF=27.6925,8.7608,21.2781;ESP6500_TAC=10237,2767;CLINVAR_ALLELEID=45256;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:C1833477,OMIM:614350|MedGen:CN169374;CLINVAR_CLNDN=Lynch_syndrome|Hereditary_nonpolyposis_colorectal_cancer_type_5|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.47806412C>G;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.3802-40C>G;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3136367	GT:AD:DP:GQ:PL	0/1:52,39:91:99:1030,0,1550
chr2	47806842	rs55740729;rs587779311;89518	T	TTTGA	834.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.598;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=2.151;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.917;SOR=0.422;INS;HET;VARTYPE=INS;dbSNP138_ID=rs267608142,rs55740729,rs3136368;dbSNPBuildID=129,136;ANN=TTTGA|frameshift_variant&stop_gained|HIGH|MSH6|MSH6|transcript|NM_000179.2|protein_coding|10/10|c.4068_4071dupGATT|p.Lys1358fs|4224/4328|4072/4083|1358/1360||INFO_REALIGN_3_PRIME,TTTGA|frameshift_variant&stop_gained|HIGH|MSH6|MSH6|transcript|NM_001281492.1|protein_coding|8/8|c.3678_3681dupGATT|p.Lys1228fs|3834/3938|3682/3693|1228/1230||INFO_REALIGN_3_PRIME,TTTGA|frameshift_variant&stop_gained|HIGH|MSH6|MSH6|transcript|NM_001281493.1|protein_coding|9/9|c.3162_3165dupGATT|p.Lys1056fs|4054/4158|3166/3177|1056/1058||INFO_REALIGN_3_PRIME,TTTGA|frameshift_variant&stop_gained|HIGH|MSH6|MSH6|transcript|NM_001281494.1|protein_coding|10/10|c.3162_3165dupGATT|p.Lys1056fs|3959/4063|3166/3177|1056/1058||INFO_REALIGN_3_PRIME,TTTGA|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding||c.*1272_*1275dupTCAA|||||77|,TTTGA|downstream_gene_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding||c.*1272_*1275dupTCAA|||||77|;p3_1000G_AC=40;p3_1000G_AF=0.00798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15796;p3_1000G_EAS_AF=0.0387;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48033981;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=94992;CLINVAR_CLNDISDB=MedGen:C0009405,Orphanet:ORPHA443090|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Hereditary_nonpolyposis_colon_cancer|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.47806845_47806848dupGATT;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:675412|International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.4068_4071dup;CLINVAR_GENEINFO=MSH6:2956;CLINVAR_MC=SO:0001589|frameshift_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=587779311|55740729	GT:AD:DP:GQ:PL	0/1:45,24:69:99:872,0,2574
chr2	47813765	rs373765859;rs386390131;rs386390132;rs77079615;~rs66830494	G	GA	738.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=0.941;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs77079615,rs373765859;dbSNPBuildID=131,138,138,138;ANN=GA|intron_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding|17/22|c.2083+25dupT||||||,GA|intron_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding|17/22|c.1831+25dupT||||||;p3_1000G_AA=AAAAAAA|AAAAAA|AAAAAAA|deletion;p3_1000G_AC=4570;p3_1000G_AF=0.91254;p3_1000G_AFR_AF=0.9849;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=16565;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48040904;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8241;p3_1000G_VT=INDEL;ESP6500_AA_AC=4191,73;ESP6500_AA_GTC=2060,71,1;ESP6500_CDS_SIZES=NM_025133.4:2532,NM_001190274.1:2784;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=67;ESP6500_EA_AC=7857,395;ESP6500_EA_GTC=3743,371,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025133.4:intron,NM_001190274.1:intron;ESP6500_GL=FBXO11;ESP6500_GRCh38_POSITION=2:47813765;ESP6500_GTC=5803,442,13;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025133.4:c.1831+25_1831+26insT,NM_001190274.1:c.2083+25_2083+26insT;ESP6500_MAF=4.7867,1.712,3.7392;ESP6500_TAC=12048,468	GT:AD:DP:GQ:PL	1/1:0,25:25:75:776,75,0
chr2	47818873	rs374445177	TA	T	15.85	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.04;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=1.08;SOR=1.402;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs374445177;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding|15/22|c.1921-10delT||||||,T|intron_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding|15/22|c.1669-10delT||||||	GT:AD:DP:GQ:PL	0/1:13,4:17:53:53,0,239
chr2	47832332	rs142115222;rs67864921	AAAAT	A	543.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.867;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=-1.307;SOR=0.264;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs142115222,rs67864921;dbSNPBuildID=134,135;ANN=A|intron_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_001190274.1|protein_coding|11/22|c.1398+13_1398+16delATTT||||||,A|intron_variant|MODIFIER|FBXO11|FBXO11|transcript|NM_025133.4|protein_coding|11/22|c.1146+13_1146+16delATTT||||||;p3_1000G_AC=806;p3_1000G_AF=0.160942;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=16418;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48059471;p3_1000G_GRCH37_REF=AAAAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=INDEL;ESP6500_AA_AC=289,3977;ESP6500_AA_GTC=15,259,1859;ESP6500_CDS_SIZES=NM_025133.4:2532,NM_001190274.1:2784;ESP6500_CG=-0.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=49;ESP6500_EA_AC=2131,6121;ESP6500_EA_GTC=264,1603,2259;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025133.4:intron,NM_001190274.1:intron;ESP6500_GL=FBXO11;ESP6500_GRCh38_POSITION=2:47832332;ESP6500_GTC=279,1862,4118;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025133.4:c.1146+13_1146+16del4,NM_001190274.1:c.1398+13_1398+16del4;ESP6500_MAF=25.824,6.7745,19.3322;ESP6500_TAC=2420,10098	GT:AD:DP:GQ:PL	0/1:16,15:31:99:581,0,916
chr2	48375113	rs17855177	C	T	1083.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.267;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.644;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17855177;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|FOXN2|FOXN2|transcript|NM_002158.3|protein_coding|7/7|c.966C>T|p.Ser322Ser|1281/5463|966/1296|322/431||;p3_1000G_AA=C|||;p3_1000G_AC=1280;p3_1000G_AF=0.255591;p3_1000G_AFR_AF=0.1218;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=22555;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.3101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48602252;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=698,3708;ESP6500_AA_AGE=291.3+/-281.4;ESP6500_AA_GTC=59,580,1564;ESP6500_CDS_SIZES=NM_002158.3:1296;ESP6500_CG=-0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=119;ESP6500_EA_AC=2775,5825;ESP6500_EA_AGE=440.8+/-359.6;ESP6500_EA_GTC=432,1911,1957;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002158.3:coding-synonymous;ESP6500_GL=FOXN2;ESP6500_GRCh38_POSITION=2:48375113;ESP6500_GTC=491,2491,3521;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002158.3:c.966C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002158.3:p.(S322);ESP6500_MAF=32.2674,15.842,26.7031;ESP6500_TAC=3473,9533	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1112,0,1170
chr2	48441151	rs78538011	C	T	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.481;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=5.88;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.113;SOR=0.082;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78538011;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001135629.2|protein_coding|1/21|c.57+141C>T||||||,T|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001193475.1|protein_coding|1/19|c.57+141C>T||||||,T|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_152994.4|protein_coding|1/20|c.57+141C>T||||||,T|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NR_024188.2|pseudogene|1/21|n.242+141C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=472;p3_1000G_AF=0.0942492;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.1686;p3_1000G_AN=5008;p3_1000G_DP=14544;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48668290;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,9:14:99:250,0,171
chr2	48486590	rs72822226	T	C	126.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.36;ReadPosRankSum=-0.524;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72822226;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001135629.2|protein_coding|13/21|c.1319-41T>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001193475.1|protein_coding|13/19|c.1319-41T>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_152994.4|protein_coding|13/20|c.1319-41T>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NR_024188.2|pseudogene|13/21|n.1543-41T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=876;p3_1000G_AF=0.17492;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=17135;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.1551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48713729;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=346,4032;ESP6500_AA_GTC=17,312,1860;ESP6500_CDS_SIZES=NM_152994.4:2310,NM_001193475.1:2217,NM_001135629.2:2343;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=21;ESP6500_EA_AC=1521,7069;ESP6500_EA_GTC=153,1215,2927;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152994.4:intron,NM_001193475.1:intron,NM_001135629.2:intron;ESP6500_GL=PPP1R21;ESP6500_GRCh38_POSITION=2:48486590;ESP6500_GTC=170,1527,4787;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152994.4:c.1319-41T>C,NM_001193475.1:c.1319-41T>C,NM_001135629.2:c.1319-41T>C;ESP6500_MAF=17.7066,7.9032,14.397;ESP6500_TAC=1867,11101	GT:AD:DP:GQ:PL	0/1:1,4:5:23:155,0,23
chr2	48495616	rs4443044	T	C	450.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4443044;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001135629.2|protein_coding|15/21|c.1600-63T>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001193475.1|protein_coding|15/19|c.1600-2877T>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_152994.4|protein_coding|15/20|c.1600-63T>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NR_024188.2|pseudogene|15/21|n.1824-63T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2636;p3_1000G_AF=0.526358;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=17977;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.5358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48722755;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:479,45,0
chr2	48498471	rs3811519	C	T	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.021;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.095;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811519;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001135629.2|protein_coding|16/21|c.1693-22C>T||||||,T|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001193475.1|protein_coding|15/19|c.1600-22C>T||||||,T|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_152994.4|protein_coding|16/20|c.1693-22C>T||||||,T|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NR_024188.2|pseudogene|16/21|n.1917-22C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2391;p3_1000G_AF=0.477436;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=18800;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.5089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48725610;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2242,2160;ESP6500_AA_AGE=532.0+/-373.3;ESP6500_AA_GTC=567,1108,526;ESP6500_CDS_SIZES=NM_152994.4:2310,NM_001193475.1:2217,NM_001135629.2:2343;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=41;ESP6500_EA_AC=4466,4134;ESP6500_EA_AGE=569.1+/-389.1;ESP6500_EA_GTC=1171,2124,1005;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152994.4:intron,NM_001193475.1:intron,NM_001135629.2:intron;ESP6500_GL=PPP1R21;ESP6500_GRCh38_POSITION=2:48498471;ESP6500_GTC=1738,3232,1531;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152994.4:c.1693-22C>T,NM_001193475.1:c.1600-22C>T,NM_001135629.2:c.1693-22C>T;ESP6500_MAF=48.0698,49.0686,48.4079;ESP6500_TAC=6708,6294	GT:AD:DP:GQ:PL	0/1:5,6:11:99:153,0,142
chr2	48507437	rs6716341	G	A	870.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6716341;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001135629.2|protein_coding|19/21|c.2085+52G>A||||||,A|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001193475.1|protein_coding|17/19|c.1959+52G>A||||||,A|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_152994.4|protein_coding|18/20|c.2052+52G>A||||||,A|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NR_024188.2|pseudogene|19/21|n.2309+52G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16376;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48734576;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:899,84,0
chr2	48511548	rs4528813	G	C	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.24;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.68;ReadPosRankSum=0.21;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4528813;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001135629.2|protein_coding|21/21|c.2313+80G>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_001193475.1|protein_coding|19/19|c.2187+80G>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NM_152994.4|protein_coding|20/20|c.2280+80G>C||||||,C|intron_variant|MODIFIER|PPP1R21|PPP1R21|transcript|NR_024188.2|pseudogene|21/21|n.2537+80G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3783;p3_1000G_AF=0.755391;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=18774;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48738687;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:97:275,0,97
chr2	48580454	rs11313336;rs397871647	GT	G	49.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11313336;dbSNPBuildID=130,138;ANN=G|upstream_gene_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding||c.-179delT|||||132|,G|intron_variant|MODIFIER|STON1|STON1|transcript|NM_001198595.1|protein_coding|2/4|c.-47-123delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|1/10|c.-47-123delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|1/10|c.-47-123delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|STON1|STON1|transcript|NM_006873.3|protein_coding|1/3|c.-47-123delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=17851;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.3191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48807593;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:86,9,0
chr2	48580657	rs17039250	A	C	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.42;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.456;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.279;SOR=1.157;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17039250;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|STON1|STON1|transcript|NM_001198595.1|protein_coding|3/5|c.24A>C|p.Lys8Asn|236/5633|24/2208|8/735||,C|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|2/11|c.24A>C|p.Lys8Asn|138/3830|24/3549|8/1182||,C|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|2/11|c.24A>C|p.Lys8Asn|135/3790|24/3477|8/1158||,C|missense_variant|MODERATE|STON1|STON1|transcript|NM_006873.3|protein_coding|2/4|c.24A>C|p.Lys8Asn|119/5516|24/2208|8/735||,C|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|1/8|c.24A>C|p.Lys8Asn|71/3622|24/3408|8/1135||;p3_1000G_AA=C|||;p3_1000G_AC=1672;p3_1000G_AF=0.333866;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=19374;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48807796;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1309,3097;ESP6500_AA_AGE=697.0+/-406.2;ESP6500_AA_GTC=192,925,1086;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=90;ESP6500_EA_AC=2749,5851;ESP6500_EA_AGE=679.6+/-403.6;ESP6500_EA_GTC=457,1835,2008;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_172311.2:missense,NM_006873.3:missense,NM_001198595.1:missense,NM_001198594.1:missense,NM_001198593.1:missense;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48580657;ESP6500_GS=94,94,94,94,94;ESP6500_GTC=649,2760,3094;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.24A>C,NM_006873.3:c.24A>C,NM_001198595.1:c.24A>C,NM_001198594.1:c.24A>C,NM_001198593.1:c.24A>C;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(K8N),NM_006873.3:p.(K8N),NM_001198595.1:p.(K8N),NM_001198594.1:p.(K8N),NM_001198593.1:p.(K8N);ESP6500_MAF=31.9651,29.7095,31.201;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=4058,8948	GT:AD:DP:GQ:PL	0/1:19,15:34:99:491,0,542
chr2	48580837	rs3828340	T	C	1327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=98;ExcessHet=3.0103;FS=1.653;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.439;SOR=0.49;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828340;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|STON1|STON1|transcript|NM_001198595.1|protein_coding|3/5|c.204T>C|p.Asp68Asp|416/5633|204/2208|68/735||,C|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|2/11|c.204T>C|p.Asp68Asp|318/3830|204/3549|68/1182||,C|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|2/11|c.204T>C|p.Asp68Asp|315/3790|204/3477|68/1158||,C|synonymous_variant|LOW|STON1|STON1|transcript|NM_006873.3|protein_coding|2/4|c.204T>C|p.Asp68Asp|299/5516|204/2208|68/735||,C|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|1/8|c.204T>C|p.Asp68Asp|251/3622|204/3408|68/1135||;p3_1000G_AA=C|||;p3_1000G_AC=1700;p3_1000G_AF=0.339457;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=8441;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48807976;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1316,3090;ESP6500_AA_AGE=697.2+/-406.2;ESP6500_AA_GTC=195,926,1082;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=1.0;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=124;ESP6500_EA_AC=2829,5771;ESP6500_EA_AGE=675.3+/-403.2;ESP6500_EA_GTC=488,1853,1959;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172311.2:coding-synonymous,NM_006873.3:coding-synonymous,NM_001198595.1:coding-synonymous,NM_001198594.1:coding-synonymous,NM_001198593.1:coding-synonymous;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48580837;ESP6500_GTC=683,2779,3041;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.204T>C,NM_006873.3:c.204T>C,NM_001198595.1:c.204T>C,NM_001198594.1:c.204T>C,NM_001198593.1:c.204T>C;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(D68),NM_006873.3:p.(D68),NM_001198595.1:p.(D68),NM_001198594.1:p.(D68),NM_001198593.1:p.(D68);ESP6500_MAF=32.8953,29.8684,31.8699;ESP6500_TAC=4145,8861	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1356,0,1342
chr2	48581013	rs940389	G	C	2055.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.693;ClippingRankSum=0;DP=157;ExcessHet=3.0103;FS=1.985;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.17;SOR=0.858;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs940389;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|STON1|STON1|transcript|NM_001198595.1|protein_coding|3/5|c.380G>C|p.Arg127Thr|592/5633|380/2208|127/735||,C|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|2/11|c.380G>C|p.Arg127Thr|494/3830|380/3549|127/1182||,C|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|2/11|c.380G>C|p.Arg127Thr|491/3790|380/3477|127/1158||,C|missense_variant|MODERATE|STON1|STON1|transcript|NM_006873.3|protein_coding|2/4|c.380G>C|p.Arg127Thr|475/5516|380/2208|127/735||,C|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|1/8|c.380G>C|p.Arg127Thr|427/3622|380/3408|127/1135||;p3_1000G_AA=G|||;p3_1000G_AC=1781;p3_1000G_AF=0.355631;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=22141;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.341;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48808152;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1400,3006;ESP6500_AA_AGE=458.0+/-351.8;ESP6500_AA_GTC=227,946,1030;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=108;ESP6500_EA_AC=2852,5748;ESP6500_EA_AGE=448.7+/-361.9;ESP6500_EA_GTC=492,1868,1940;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_172311.2:missense,NM_006873.3:missense,NM_001198595.1:missense,NM_001198594.1:missense,NM_001198593.1:missense;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48581013;ESP6500_GS=71,71,71,71,71;ESP6500_GTC=719,2814,2970;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.380G>C,NM_006873.3:c.380G>C,NM_001198595.1:c.380G>C,NM_001198594.1:c.380G>C,NM_001198593.1:c.380G>C;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(R127T),NM_006873.3:p.(R127T),NM_001198595.1:p.(R127T),NM_001198594.1:p.(R127T),NM_001198593.1:p.(R127T);ESP6500_MAF=33.1628,31.7749,32.6926;ESP6500_PH=benign:0.183,benign:0.183,benign:0.183,benign:0.183,benign:0.183;ESP6500_TAC=4252,8754	GT:AD:DP:GQ:PL	0/1:83,74:157:99:2084,0,2390
chr2	48581455	rs3749142	C	T	1330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.481;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=1.93;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-0.549;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749142;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|STON1|STON1|transcript|NM_001198595.1|protein_coding|3/5|c.822C>T|p.Ser274Ser|1034/5633|822/2208|274/735||,T|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|2/11|c.822C>T|p.Ser274Ser|936/3830|822/3549|274/1182||,T|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|2/11|c.822C>T|p.Ser274Ser|933/3790|822/3477|274/1158||,T|synonymous_variant|LOW|STON1|STON1|transcript|NM_006873.3|protein_coding|2/4|c.822C>T|p.Ser274Ser|917/5516|822/2208|274/735||,T|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|1/8|c.822C>T|p.Ser274Ser|869/3622|822/3408|274/1135||;p3_1000G_AA=C|||;p3_1000G_AC=1979;p3_1000G_AF=0.395168;p3_1000G_AFR_AF=0.292;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=20351;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48808594;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1489,2917;ESP6500_AA_AGE=474.2+/-356.9;ESP6500_AA_GTC=249,991,963;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=69;ESP6500_EA_AC=4258,4342;ESP6500_EA_AGE=572.6+/-389.7;ESP6500_EA_GTC=1061,2136,1103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172311.2:coding-synonymous,NM_006873.3:coding-synonymous,NM_001198595.1:coding-synonymous,NM_001198594.1:coding-synonymous,NM_001198593.1:coding-synonymous;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48581455;ESP6500_GTC=1310,3127,2066;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.822C>T,NM_006873.3:c.822C>T,NM_001198595.1:c.822C>T,NM_001198594.1:c.822C>T,NM_001198593.1:c.822C>T;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(S274),NM_006873.3:p.(S274),NM_001198595.1:p.(S274),NM_001198594.1:p.(S274),NM_001198593.1:p.(S274);ESP6500_MAF=49.5116,33.7948,44.1873;ESP6500_TAC=5747,7259	GT:AD:DP:GQ:PL	0/1:28,52:80:99:1359,0,656
chr2	48581743	rs3749144	T	A	1093.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0.851;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.566;SOR=0.596;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749144;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|STON1|STON1|transcript|NM_001198595.1|protein_coding|3/5|c.1110T>A|p.Pro370Pro|1322/5633|1110/2208|370/735||,A|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|2/11|c.1110T>A|p.Pro370Pro|1224/3830|1110/3549|370/1182||,A|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|2/11|c.1110T>A|p.Pro370Pro|1221/3790|1110/3477|370/1158||,A|synonymous_variant|LOW|STON1|STON1|transcript|NM_006873.3|protein_coding|2/4|c.1110T>A|p.Pro370Pro|1205/5516|1110/2208|370/735||,A|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|1/8|c.1110T>A|p.Pro370Pro|1157/3622|1110/3408|370/1135||;p3_1000G_AA=A|||;p3_1000G_AC=1683;p3_1000G_AF=0.336062;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=20805;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.3201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48808882;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1308,3098;ESP6500_AA_AGE=693.8+/-405.7;ESP6500_AA_GTC=193,922,1088;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=2750,5850;ESP6500_EA_AGE=678.0+/-403.4;ESP6500_EA_GTC=457,1836,2007;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172311.2:coding-synonymous,NM_006873.3:coding-synonymous,NM_001198595.1:coding-synonymous,NM_001198594.1:coding-synonymous,NM_001198593.1:coding-synonymous;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48581743;ESP6500_GTC=650,2758,3095;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.1110T>A,NM_006873.3:c.1110T>A,NM_001198595.1:c.1110T>A,NM_001198594.1:c.1110T>A,NM_001198593.1:c.1110T>A;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(P370),NM_006873.3:p.(P370),NM_001198595.1:p.(P370),NM_001198594.1:p.(P370),NM_001198593.1:p.(P370);ESP6500_MAF=31.9767,29.6868,31.201;ESP6500_TAC=4058,8948	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1122,0,869
chr2	48581759	rs3749145	C	T	1116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.899;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=4.744;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-0.339;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749145;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|STON1|STON1|transcript|NM_001198595.1|protein_coding|3/5|c.1126C>T|p.Leu376Leu|1338/5633|1126/2208|376/735||,T|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|2/11|c.1126C>T|p.Leu376Leu|1240/3830|1126/3549|376/1182||,T|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|2/11|c.1126C>T|p.Leu376Leu|1237/3790|1126/3477|376/1158||,T|synonymous_variant|LOW|STON1|STON1|transcript|NM_006873.3|protein_coding|2/4|c.1126C>T|p.Leu376Leu|1221/5516|1126/2208|376/735||,T|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|1/8|c.1126C>T|p.Leu376Leu|1173/3622|1126/3408|376/1135||;p3_1000G_AA=C|||;p3_1000G_AC=1673;p3_1000G_AF=0.334065;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=21013;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48808898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1311,3095;ESP6500_AA_AGE=437.6+/-345.0;ESP6500_AA_GTC=195,921,1087;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=69;ESP6500_EA_AC=2751,5849;ESP6500_EA_AGE=437.4+/-358.6;ESP6500_EA_GTC=456,1839,2005;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172311.2:coding-synonymous,NM_006873.3:coding-synonymous,NM_001198595.1:coding-synonymous,NM_001198594.1:coding-synonymous,NM_001198593.1:coding-synonymous;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48581759;ESP6500_GTC=651,2760,3092;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.1126C>T,NM_006873.3:c.1126C>T,NM_001198595.1:c.1126C>T,NM_001198594.1:c.1126C>T,NM_001198593.1:c.1126C>T;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(L376),NM_006873.3:p.(L376),NM_001198595.1:p.(L376),NM_001198594.1:p.(L376),NM_001198593.1:p.(L376);ESP6500_MAF=31.9884,29.7549,31.2317;ESP6500_TAC=4062,8944	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1145,0,887
chr2	48582454	rs3792234	G	T	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.027;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=4.084;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=0.712;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3792234;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|STON1|STON1|transcript|NM_001198595.1|protein_coding|3/5|c.1821G>T|p.Gln607His|2033/5633|1821/2208|607/735||,T|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|2/11|c.1821G>T|p.Gln607His|1935/3830|1821/3549|607/1182||,T|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|2/11|c.1821G>T|p.Gln607His|1932/3790|1821/3477|607/1158||,T|missense_variant|MODERATE|STON1|STON1|transcript|NM_006873.3|protein_coding|2/4|c.1821G>T|p.Gln607His|1916/5516|1821/2208|607/735||,T|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|1/8|c.1821G>T|p.Gln607His|1868/3622|1821/3408|607/1135||;p3_1000G_AA=T|||;p3_1000G_AC=1985;p3_1000G_AF=0.396366;p3_1000G_AFR_AF=0.2927;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=19325;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.4811;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48809593;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1493,2913;ESP6500_AA_AGE=677.9+/-403.5;ESP6500_AA_GTC=249,995,959;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=67;ESP6500_EA_AC=4329,4271;ESP6500_EA_AGE=574.5+/-390.1;ESP6500_EA_GTC=1095,2139,1066;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_172311.2:missense,NM_006873.3:missense,NM_001198595.1:missense,NM_001198594.1:missense,NM_001198593.1:missense;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48582454;ESP6500_GS=24,24,24,24,24;ESP6500_GTC=1344,3134,2025;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.1821G>T,NM_006873.3:c.1821G>T,NM_001198595.1:c.1821G>T,NM_001198594.1:c.1821G>T,NM_001198593.1:c.1821G>T;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(Q607H),NM_006873.3:p.(Q607H),NM_001198595.1:p.(Q607H),NM_001198594.1:p.(Q607H),NM_001198593.1:p.(Q607H);ESP6500_MAF=49.6628,33.8856,44.764;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=5822,7184	GT:AD:DP:GQ:PL	0/1:8,21:29:99:554,0,175
chr2	48582617	rs3792235	T	C	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0;SOR=0.838;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3792235;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|STON1|STON1|transcript|NM_001198595.1|protein_coding|3/4|c.1930+54T>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|2/10|c.1930+54T>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|2/10|c.1930+54T>C||||||,C|intron_variant|MODIFIER|STON1|STON1|transcript|NM_006873.3|protein_coding|2/3|c.1930+54T>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|1/7|c.1930+54T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1835;p3_1000G_AF=0.366414;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=19696;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.3529;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48809756;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:85:111,0,85
chr2	48595242	rs2140551	G	A	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.044;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.852;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.63;ReadPosRankSum=-0.571;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2140551;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|STON1|STON1|transcript|NM_001198595.1|protein_coding|5/5|c.2148G>A|p.Lys716Lys|2360/5633|2148/2208|716/735||,A|synonymous_variant|LOW|STON1|STON1|transcript|NM_006873.3|protein_coding|4/4|c.2148G>A|p.Lys716Lys|2243/5516|2148/2208|716/735||,A|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|3/10|c.2133+3387G>A||||||,A|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|3/10|c.2133+3387G>A||||||,A|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|2/7|c.2133+3387G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2432;p3_1000G_AF=0.485623;p3_1000G_AFR_AF=0.2814;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=20052;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.5577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48822381;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1405,3001;ESP6500_AA_AGE=457.5+/-351.6;ESP6500_AA_GTC=213,979,1011;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=103;ESP6500_EA_AC=4744,3856;ESP6500_EA_AGE=606.3+/-395.1;ESP6500_EA_GTC=1316,2112,872;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_172311.2:intron,NM_006873.3:coding-synonymous,NM_001198595.1:coding-synonymous,NM_001198594.1:intron,NM_001198593.1:intron;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48595242;ESP6500_GTC=1529,3091,1883;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.2133+3387G>A,NM_006873.3:c.2148G>A,NM_001198595.1:c.2148G>A,NM_001198594.1:c.2133+3387G>A,NM_001198593.1:c.2133+3387G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_006873.3:p.(K716),NM_001198595.1:p.(K716),.,.;ESP6500_MAF=44.8372,31.8883,47.2782;ESP6500_TAC=6149,6857	GT:AD:DP:GQ:PL	0/1:10,18:28:99:522,0,266
chr2	48595333	rs74876192	T	C	549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.204;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.171;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.493;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74876192;dbSNPBuildID=134;ANN=C|3_prime_UTR_variant|MODIFIER|STON1|STON1|transcript|NM_001198595.1|protein_coding|5/5|c.*31T>C|||||31|,C|3_prime_UTR_variant|MODIFIER|STON1|STON1|transcript|NM_006873.3|protein_coding|4/4|c.*31T>C|||||31|,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|3/10|c.2133+3478T>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|3/10|c.2133+3478T>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|2/7|c.2133+3478T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=34;p3_1000G_AF=0.00678914;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19844;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48822472;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006873.3:2208,NM_001198595.1:2208,NM_001198594.1:3408,NM_001198593.1:3477;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_133;ESP6500_DP=79;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172311.2:intron,NM_006873.3:utr-3,NM_001198595.1:utr-3,NM_001198594.1:intron,NM_001198593.1:intron;ESP6500_GL=STON1,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48595333;ESP6500_GTC=0,2,6501;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.2133+3478T>C,NM_006873.3:c.*31T>C,NM_001198595.1:c.*31T>C,NM_001198594.1:c.2133+3478T>C,NM_001198593.1:c.2133+3478T>C;ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_TAC=2,13004	GT:AD:DP:GQ:PL	0/1:20,23:43:99:578,0,518
chr2	48595401	rs7574549	T	C	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.854;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=5.555;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-2.441;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7574549;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|STON1|STON1|transcript|NM_001198595.1|protein_coding|5/5|c.*99T>C|||||99|,C|3_prime_UTR_variant|MODIFIER|STON1|STON1|transcript|NM_006873.3|protein_coding|4/4|c.*99T>C|||||99|,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|3/10|c.2133+3546T>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|3/10|c.2133+3546T>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|2/7|c.2133+3546T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1225;p3_1000G_AF=0.244609;p3_1000G_AFR_AF=0.4198;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=20907;p3_1000G_EAS_AF=0.3611;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48822540;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,19:33:99:428,0,328
chr2	48617829	rs2293269	C	G	1390.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=1.556;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2293269;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|GTF2A1L|GTF2A1L|transcript|NM_006872.4|protein_coding|1/9|c.-46C>G|||||46|,G|5_prime_UTR_variant|MODIFIER|GTF2A1L|GTF2A1L|transcript|NM_001193487.2|protein_coding|1/8|c.-46C>G|||||46|,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|3/10|c.2134-3022C>G||||||,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|3/10|c.2134-3022C>G||||||,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|2/7|c.2134-3022C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3249;p3_1000G_AF=0.648762;p3_1000G_AFR_AF=0.3986;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=17903;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.6829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48844968;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1962,1752;ESP6500_AA_GTC=552,858,447;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006872.3:1437,NM_001198594.1:3408,NM_001198593.1:3477,NM_001193487.1:1335;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=26;ESP6500_EA_AC=4836,2248;ESP6500_EA_GTC=1703,1430,409;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172311.2:intron,NM_006872.3:utr-5,NM_001198594.1:intron,NM_001198593.1:intron,NM_001193487.1:utr-5;ESP6500_GL=GTF2A1L,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48617829;ESP6500_GTC=2255,2288,856;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.2134-3022C>G,NM_006872.3:c.-46C>G,NM_001198594.1:c.2134-3022C>G,NM_001198593.1:c.2134-3022C>G,NM_001193487.1:c.-46C>G;ESP6500_MAF=31.7335,47.1729,37.0439;ESP6500_TAC=6798,4000	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1419,126,0
chr2	48621376	rs17037472	G	C	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.435;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=-1.244;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17037472;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|5/10|c.2359+86G>C||||||,C|intron_variant|MODIFIER|GTF2A1L|GTF2A1L|transcript|NM_006872.4|protein_coding|3/8|c.247+86G>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|5/10|c.2359+86G>C||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|4/7|c.2359+86G>C||||||,C|intron_variant|MODIFIER|GTF2A1L|GTF2A1L|transcript|NM_001193487.2|protein_coding|2/7|c.145+86G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=818;p3_1000G_AF=0.163339;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=16672;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48848515;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,3:12:56:56,0,304
chr2	48646839	rs10432667	A	G	1102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.91;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=13.709;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.589;SOR=0.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10432667;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|8/11|c.2887A>G|p.Asn963Asp|3001/3830|2887/3549|963/1182||,G|missense_variant|MODERATE|GTF2A1L|GTF2A1L|transcript|NM_006872.4|protein_coding|6/9|c.775A>G|p.Asn259Asp|870/1701|775/1437|259/478||,G|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|8/11|c.2887A>G|p.Asn963Asp|2998/3790|2887/3477|963/1158||,G|missense_variant|MODERATE|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|5/8|c.2746A>G|p.Asn916Asp|2793/3622|2746/3408|916/1135||,G|missense_variant|MODERATE|GTF2A1L|GTF2A1L|transcript|NM_001193487.2|protein_coding|5/8|c.673A>G|p.Asn225Asp|768/1599|673/1335|225/444||;p3_1000G_AA=A|||;p3_1000G_AC=1014;p3_1000G_AF=0.202476;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=17718;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.3052;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48873978;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=482,3924;ESP6500_AA_AGE=226.2+/-241.8;ESP6500_AA_GTC=32,418,1753;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006872.3:1437,NM_001198594.1:3408,NM_001198593.1:3477,NM_001193487.1:1335;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=97;ESP6500_EA_AC=2415,6185;ESP6500_EA_AGE=400.1+/-346.7;ESP6500_EA_GTC=339,1737,2224;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_172311.2:missense,NM_006872.3:missense,NM_001198594.1:missense,NM_001198593.1:missense,NM_001193487.1:missense;ESP6500_GL=GTF2A1L,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48646839;ESP6500_GS=23,23,23,23,23;ESP6500_GTC=371,2155,3977;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.2887A>G,NM_006872.3:c.775A>G,NM_001198594.1:c.2746A>G,NM_001198593.1:c.2887A>G,NM_001193487.1:c.673A>G;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(N963D),NM_006872.3:p.(N259D),NM_001198594.1:p.(N916D),NM_001198593.1:p.(N963D),NM_001193487.1:p.(N225D);ESP6500_MAF=28.0814,10.9396,22.2743;ESP6500_PH=benign:0.241,benign:0.241,benign:0.241,benign:0.241,benign:0.241;ESP6500_TAC=2897,10109	GT:AD:DP:GQ:PL	0/1:43,37:80:99:1131,0,1130
chr2	48671659	rs3920390	T	A	1914.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.01;SOR=0.754;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3920390;dbSNPBuildID=108;ANN=A|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|10/11|c.3420T>A|p.Val1140Val|3534/3830|3420/3549|1140/1182||,A|synonymous_variant|LOW|GTF2A1L|GTF2A1L|transcript|NM_006872.4|protein_coding|8/9|c.1308T>A|p.Val436Val|1403/1701|1308/1437|436/478||,A|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/11|c.3420T>A|p.Val1140Val|3531/3790|3420/3477|1140/1158||,A|synonymous_variant|LOW|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|7/8|c.3279T>A|p.Val1093Val|3326/3622|3279/3408|1093/1135||,A|synonymous_variant|LOW|GTF2A1L|GTF2A1L|transcript|NM_001193487.2|protein_coding|7/8|c.1206T>A|p.Val402Val|1301/1599|1206/1335|402/444||;p3_1000G_AA=A|||;p3_1000G_AC=4933;p3_1000G_AF=0.985024;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21399;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9712;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48898798;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4384,22;ESP6500_AA_AGE=27.2+/-55.0;ESP6500_AA_GTC=2181,22,0;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006872.3:1437,NM_001198594.1:3408,NM_001198593.1:3477,NM_001193487.1:1335;ESP6500_CG=1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=222;ESP6500_EA_AC=8344,256;ESP6500_EA_AGE=100.6+/-161.9;ESP6500_EA_GTC=4050,244,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172311.2:coding-synonymous,NM_006872.3:coding-synonymous,NM_001198594.1:coding-synonymous,NM_001198593.1:coding-synonymous,NM_001193487.1:coding-synonymous;ESP6500_GL=GTF2A1L,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48671659;ESP6500_GTC=6231,266,6;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.3420T>A,NM_006872.3:c.1308T>A,NM_001198594.1:c.3279T>A,NM_001198593.1:c.3420T>A,NM_001193487.1:c.1206T>A;ESP6500_HGVS_PROTEIN_VAR=NM_172311.2:p.(V1140),NM_006872.3:p.(V436),NM_001198594.1:p.(V1093),NM_001198593.1:p.(V1140),NM_001193487.1:p.(V402);ESP6500_MAF=2.9767,0.4993,2.1375;ESP6500_TAC=12728,278	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1943,198,0
chr2	48679221	rs1464728	A	G	401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.07;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1464728;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|10/10|c.3442-114A>G||||||,G|intron_variant|MODIFIER|GTF2A1L|GTF2A1L|transcript|NM_006872.4|protein_coding|8/8|c.1330-114A>G||||||,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3441+7541A>G||||||,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|7/7|c.3301-114A>G||||||,G|intron_variant|MODIFIER|GTF2A1L|GTF2A1L|transcript|NM_001193487.2|protein_coding|7/7|c.1228-114A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4491;p3_1000G_AF=0.896765;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=16182;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48906360;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:430,33,0
chr2	48679486	rs1965508	T	C	1441.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.659;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1965508;dbSNPBuildID=92;ANN=C|3_prime_UTR_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_172311.2|protein_coding|11/11|c.*44T>C|||||44|,C|3_prime_UTR_variant|MODIFIER|GTF2A1L|GTF2A1L|transcript|NM_006872.4|protein_coding|9/9|c.*44T>C|||||44|,C|3_prime_UTR_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198594.1|protein_coding|8/8|c.*44T>C|||||44|,C|3_prime_UTR_variant|MODIFIER|GTF2A1L|GTF2A1L|transcript|NM_001193487.2|protein_coding|8/8|c.*44T>C|||||44|,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3441+7806T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4934;p3_1000G_AF=0.985224;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16794;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48906625;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4384,22;ESP6500_AA_AGE=27.2+/-55.0;ESP6500_AA_GTC=2181,22,0;ESP6500_CDS_SIZES=NM_172311.2:3549,NM_006872.3:1437,NM_001198594.1:3408,NM_001198593.1:3477,NM_001193487.1:1335;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=91;ESP6500_EA_AC=8342,258;ESP6500_EA_AGE=100.8+/-162.1;ESP6500_EA_GTC=4048,246,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172311.2:utr-3,NM_006872.3:utr-3,NM_001198594.1:utr-3,NM_001198593.1:intron,NM_001193487.1:utr-3;ESP6500_GL=GTF2A1L,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48679486;ESP6500_GTC=6229,268,6;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172311.2:c.*44T>C,NM_006872.3:c.*44T>C,NM_001198594.1:c.*44T>C,NM_001198593.1:c.3441+7806T>C,NM_001193487.1:c.*44T>C;ESP6500_MAF=3.0,0.4993,2.1529;ESP6500_TAC=12726,280	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1470,141,0
chr2	48688732	rs11125179;255607	A	G	2597.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=0.719;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11125179;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|11/11|c.1065T>C|p.Asp355Asp|1135/3093|1065/2100|355/699||,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3441+17052A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2966;p3_1000G_AF=0.592252;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=19323;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48915871;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1382,3024;ESP6500_AA_AGE=454.9+/-350.8;ESP6500_AA_GTC=224,934,1045;ESP6500_CDS_SIZES=NM_001198593.1:3477,NM_000233.3:2100;ESP6500_CG=-0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=134;ESP6500_EA_AC=5078,3522;ESP6500_EA_AGE=631.5+/-398.5;ESP6500_EA_GTC=1497,2084,719;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001198593.1:intron,NM_000233.3:coding-synonymous;ESP6500_GL=LHCGR,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48688732;ESP6500_GTC=1721,3018,1764;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001198593.1:c.3441+17052A>G,NM_000233.3:c.1065T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_000233.3:p.(D355);ESP6500_MAF=40.9535,31.3663,49.6694;ESP6500_TAC=6460,6546;CLINVAR_AF_ESP=0.4967;CLINVAR_ALLELEID=250744;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000815,MedGen:C0948896|MedGen:C0266432,OMIM:238320,SNOMED_CT:56212008|MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED_CT:237818003|MedGen:CN169374;CLINVAR_CLNDN=Hypergonadotropic_hypogonadism|Leydig_cell_agenesis|Gonadotropin-independent_familial_sexual_precocity|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.48688732A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24869;CLINVAR_GENEINFO=LHCGR:3973|STON1-GTF2A1L:286749;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11125179	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2626,231,0
chr2	48694236	rs2293275;255609	T	C	809.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2293275;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|10/11|c.935A>G|p.Asn312Ser|1005/3093|935/2100|312/699||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3441+22556T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2960;p3_1000G_AF=0.591054;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=18928;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.6402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48921375;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1307,3093;ESP6500_AA_AGE=429.3+/-342.2;ESP6500_AA_GTC=203,901,1096;ESP6500_CDS_SIZES=NM_001198593.1:3477,NM_000233.3:2100;ESP6500_CG=3.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=114;ESP6500_EA_AC=5074,3516;ESP6500_EA_AGE=612.9+/-396.0;ESP6500_EA_GTC=1492,2090,713;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001198593.1:intron,NM_000233.3:missense;ESP6500_GL=LHCGR,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48694236;ESP6500_GS=.,46;ESP6500_GTC=1695,2991,1809;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001198593.1:c.3441+22556T>C,NM_000233.3:c.935A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_000233.3:p.(N312S);ESP6500_MAF=40.9313,29.7045,49.1224;ESP6500_PH=.,benign:0.004;ESP6500_TAC=6381,6609;CLINVAR_AF_ESP=0.4912;CLINVAR_ALLELEID=250745;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000815,MedGen:C0948896|MedGen:C0266432,OMIM:238320,SNOMED_CT:56212008|MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED_CT:237818003|MedGen:CN169374;CLINVAR_CLNDN=Hypergonadotropic_hypogonadism|Leydig_cell_agenesis|Gonadotropin-independent_familial_sexual_precocity|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.48694236T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24877|UniProtKB_(protein):P22888#VAR_060737;CLINVAR_GENEINFO=LHCGR:3973|STON1-GTF2A1L:286749;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2293275	GT:AD:DP:GQ:PL	1/1:0,29:29:87:838,87,0
chr2	48698607	rs6755901;255608	C	T	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.085;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-0.05;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6755901;dbSNPBuildID=116;ANN=T|splice_region_variant&intron_variant|LOW|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|9/10|c.866+8G>A||||||,T|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3441+26927C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3693;p3_1000G_AF=0.73742;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=16658;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.8181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48925746;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3834,572;ESP6500_AA_AGE=253.7+/-259.5;ESP6500_AA_GTC=1676,482,45;ESP6500_CDS_SIZES=NM_001198593.1:3477,NM_000233.3:2100;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=80;ESP6500_EA_AC=7252,1348;ESP6500_EA_AGE=264.3+/-285.5;ESP6500_EA_GTC=3052,1148,100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001198593.1:intron,NM_000233.3:intron;ESP6500_GL=LHCGR,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48698607;ESP6500_GTC=4728,1630,145;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001198593.1:c.3441+26927C>T,NM_000233.3:c.866+8G>A;ESP6500_MAF=15.6744,12.9823,14.7624;ESP6500_TAC=11086,1920;CLINVAR_ALLELEID=250746;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000815,MedGen:C0948896|MedGen:C0266432,OMIM:238320,SNOMED_CT:56212008|MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED_CT:237818003|MedGen:CN169374;CLINVAR_CLNDN=Hypergonadotropic_hypogonadism|Leydig_cell_agenesis|Gonadotropin-independent_familial_sexual_precocity|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.48698607C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24884;CLINVAR_GENEINFO=LHCGR:3973|STON1-GTF2A1L:286749;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6755901	GT:AD:DP:GQ:PL	0/1:8,11:19:99:350,0,212
chr2	48698847	rs70946824	AT	A	46.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.42;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs79183872,rs70946824;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|8/10|c.681-48delA||||||,A|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3441+27179delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4698;p3_1000G_AF=0.938099;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=14527;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.9493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48925986;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:83,9,0
chr2	48721568	rs68073206	A	C	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.18;ReadPosRankSum=0.623;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs68073206;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|6/10|c.536+1888T>G||||||,C|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3441+49888A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1331;p3_1000G_AF=0.265775;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48948707;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:220,0,102
chr2	48725562	rs6545063	C	G	143.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6545063;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|4/10|c.383+114G>C||||||,G|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3442-50718C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18588;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48952701;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:171,12,0
chr2	48729292	rs11892719	T	A	526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11892719;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|2/10|c.234-65A>T||||||,A|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3442-46988T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3031;p3_1000G_AF=0.605232;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=21299;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48956431;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1064,320;ESP6500_AA_GTC=416,232,44;ESP6500_CDS_SIZES=NM_001198593.1:3477,NM_000233.3:2100;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=24;ESP6500_EA_AC=1587,1593;ESP6500_EA_GTC=406,775,409;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001198593.1:intron,NM_000233.3:intron;ESP6500_GL=LHCGR,STON1-GTF2A1L;ESP6500_GRCh38_POSITION=2:48729292;ESP6500_GTC=822,1007,453;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001198593.1:c.3442-46988T>A,NM_000233.3:c.234-65A>T;ESP6500_MAF=49.9057,23.1214,41.915;ESP6500_TAC=2651,1913	GT:AD:DP:GQ:PL	1/1:0,19:19:56:555,56,0
chr2	48729336	rs11887058	C	T	451.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11887058;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|2/10|c.234-109G>A||||||,T|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3442-46944C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2250;p3_1000G_AF=0.449281;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=21181;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.2893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48956475;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:480,39,0
chr2	48755729	rs10176989;336473	C	A	704.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.19;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10176989;dbSNPBuildID=119;ANN=A|5_prime_UTR_variant|MODIFIER|LHCGR|LHCGR|transcript|NM_000233.3|protein_coding|1/11|c.-58G>T|||||58|,A|intron_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|10/10|c.3442-20551C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1285;p3_1000G_AF=0.256589;p3_1000G_AFR_AF=0.469;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=8675;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=48982868;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.2566;CLINVAR_ALLELEID=286702;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000815,MedGen:C0948896|MedGen:C0266432,OMIM:238320,SNOMED_CT:56212008|MedGen:C0342549,OMIM:176410,Orphanet:ORPHA3000,SNOMED_CT:237818003;CLINVAR_CLNDN=Hypergonadotropic_hypogonadism|Leydig_cell_agenesis|Gonadotropin-independent_familial_sexual_precocity;CLINVAR_CLNHGVS=NC_000002.12:g.48755729C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24900;CLINVAR_GENEINFO=LHCGR:3973|STON1-GTF2A1L:286749;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10176989	GT:AD:DP:GQ:PL	1/1:0,25:25:75:733,75,0
chr2	48776427	rs10194838	C	T	204.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10194838;dbSNPBuildID=119;ANN=T|3_prime_UTR_variant|MODIFIER|STON1-GTF2A1L|STON1-GTF2A1L|transcript|NM_001198593.1|protein_coding|11/11|c.*112C>T|||||112|;p3_1000G_AA=C|||;p3_1000G_AC=1353;p3_1000G_AF=0.270168;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=17756;p3_1000G_EAS_AF=0.2361;p3_1000G_EUR_AF=0.1223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49003566;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:233,21,0
chr2	48962782	rs6166;16247	C	T	1835.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=1.034;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6166;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|FSHR|FSHR|transcript|NM_000145.3|protein_coding|10/10|c.2039G>A|p.Ser680Asn|2149/2774|2039/2088|680/695||,T|missense_variant|MODERATE|FSHR|FSHR|transcript|NM_181446.2|protein_coding|9/9|c.1961G>A|p.Ser654Asn|2071/2696|1961/2010|654/669||;p3_1000G_AA=T|||;p3_1000G_AC=2968;p3_1000G_AF=0.592652;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=20407;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.5507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49189921;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2588,1818;ESP6500_AA_AGE=533.3+/-373.7;ESP6500_AA_GTC=768,1052,383;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...2492&amp%3Brs...6166|http://www.ncbi.nlm.nih.gov/omim/136435,608115|http://omim.org/entry/136435#0006;ESP6500_CDS_SIZES=NM_181446.2:2010,NM_000145.3:2088;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=130;ESP6500_EA_AC=4672,3928;ESP6500_EA_AGE=548.0+/-385.3;ESP6500_EA_GTC=1257,2158,885;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181446.2:missense,NM_000145.3:missense;ESP6500_GL=FSHR;ESP6500_GRCh38_POSITION=2:48962782;ESP6500_GS=46,46;ESP6500_GTC=2025,3210,1268;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181446.2:c.1961G>A,NM_000145.3:c.2039G>A;ESP6500_HGVS_PROTEIN_VAR=NM_181446.2:p.(S654N),NM_000145.3:p.(S680N);ESP6500_MAF=45.6744,41.2619,44.1796;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7260,5746;CLINVAR_ALLELEID=31286;CLINVAR_CLNDISDB=MedGen:C0085083,OMIM:608115,Orphanet:ORPHA64739,SNOMED_CT:129635004|MedGen:C0342510|MedGen:C1848715|MedGen:CN169374;CLINVAR_CLNDN=Ovarian_hyperstimulation_syndrome|Ovarian_Dysgenesis|Ovarian_response_to_FSH_stimulation|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.48962782C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24889|OMIM_Allelic_Variant:136435.0006;CLINVAR_GENEINFO=FSHR:2492;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6166	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1864,177,0
chr2	48963902	rs6165;16246	C	T	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.804;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.391;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.474;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6165;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|FSHR|FSHR|transcript|NM_000145.3|protein_coding|10/10|c.919G>A|p.Ala307Thr|1029/2774|919/2088|307/695||,T|missense_variant|MODERATE|FSHR|FSHR|transcript|NM_181446.2|protein_coding|9/9|c.841G>A|p.Ala281Thr|951/2696|841/2010|281/669||;p3_1000G_AA=C|||;p3_1000G_AC=2465;p3_1000G_AF=0.492212;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=21707;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.5487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49191041;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1256,3150;ESP6500_AA_AGE=431.2+/-342.8;ESP6500_AA_GTC=188,880,1135;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...2492&amp%3Brs...6165|http://www.ncbi.nlm.nih.gov/omim/136435,276400|http://omim.org/entry/136435#0005;ESP6500_CDS_SIZES=NM_181446.2:2010,NM_000145.3:2088;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=179;ESP6500_EA_AC=4657,3943;ESP6500_EA_AGE=603.7+/-394.7;ESP6500_EA_GTC=1247,2163,890;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181446.2:missense,NM_000145.3:missense;ESP6500_GL=FSHR;ESP6500_GRCh38_POSITION=2:48963902;ESP6500_GS=58,58;ESP6500_GTC=1435,3043,2025;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181446.2:c.841G>A,NM_000145.3:c.919G>A;ESP6500_HGVS_PROTEIN_VAR=NM_181446.2:p.(A281T),NM_000145.3:p.(A307T);ESP6500_MAF=45.8488,28.5066,45.4636;ESP6500_PH=benign:0.002,benign:0.002;ESP6500_TAC=5913,7093;CLINVAR_AF_ESP=0.4546;CLINVAR_AF_TGP=0.4922;CLINVAR_ALLELEID=31285;CLINVAR_CLNDISDB=MedGen:C0085083,OMIM:608115,Orphanet:ORPHA64739,SNOMED_CT:129635004|MedGen:C0342510|MedGen:C1848715|MedGen:CN169374;CLINVAR_CLNDN=Ovarian_hyperstimulation_syndrome|Ovarian_Dysgenesis|Ovarian_response_to_FSH_stimulation|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.48963902C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24895|OMIM_Allelic_Variant:136435.0005;CLINVAR_GENEINFO=FSHR:2492;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6165	GT:AD:DP:GQ:PL	0/1:21,16:37:99:400,0,709
chr2	48988838	rs2072488	G	A	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.623;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-1.673;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072488;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_000145.3|protein_coding|6/9|c.524+139C>T||||||,A|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_181446.2|protein_coding|5/8|c.446+1728C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=3577;p3_1000G_AF=0.714257;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=20272;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49215977;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:246,0,257
chr2	48989145	rs2072487	C	T	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.136;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=1.13;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072487;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_000145.3|protein_coding|5/9|c.447-91G>A||||||,T|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_181446.2|protein_coding|5/8|c.446+1421G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3561;p3_1000G_AF=0.711062;p3_1000G_AFR_AF=0.7171;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=18651;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.7624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49216284;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,9:22:99:217,0,385
chr2	48990777	rs2072486	T	G	127.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.58;ReadPosRankSum=0.524;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072486;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_000145.3|protein_coding|4/9|c.375-140A>C||||||,G|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_181446.2|protein_coding|4/8|c.375-140A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1920;p3_1000G_AF=0.383387;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=18557;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49217916;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:15:156,0,15
chr2	49014710	rs6708637	G	A	115.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6708637;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_000145.3|protein_coding|4/9|c.374+2779C>T||||||,A|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_181446.2|protein_coding|4/8|c.374+2779C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=2516;p3_1000G_AF=0.502396;p3_1000G_AFR_AF=0.4319;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=20563;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.6203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49241849;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:143,12,0
chr2	49017420	rs2091787	A	G	552.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2091787;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_000145.3|protein_coding|4/9|c.374+69T>C||||||,G|intron_variant|MODIFIER|FSHR|FSHR|transcript|NM_181446.2|protein_coding|4/8|c.374+69T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3045;p3_1000G_AF=0.608027;p3_1000G_AFR_AF=0.5477;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=17347;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49244559;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:581,51,0
chr2	49154446	rs1394205;137403	C	T	2222.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1394205;dbSNPBuildID=88;ANN=T|5_prime_UTR_variant|MODIFIER|FSHR|FSHR|transcript|NM_000145.3|protein_coding|1/10|c.-29G>A|||||29|,T|5_prime_UTR_variant|MODIFIER|FSHR|FSHR|transcript|NM_181446.2|protein_coding|1/9|c.-29G>A|||||29|;p3_1000G_AA=C|||;p3_1000G_AC=1728;p3_1000G_AF=0.345048;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=18349;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.2893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49381585;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1074,3332;ESP6500_AA_AGE=384.4+/-325.3;ESP6500_AA_GTC=138,798,1267;ESP6500_CDS_SIZES=NM_181446.2:2010,NM_000145.3:2088;ESP6500_CG=2.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=60;ESP6500_EA_AC=2296,6304;ESP6500_EA_AGE=381.6+/-340.1;ESP6500_EA_GTC=334,1628,2338;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181446.2:utr-5,NM_000145.3:utr-5;ESP6500_GL=FSHR;ESP6500_GRCh38_POSITION=2:49154446;ESP6500_GTC=472,2426,3605;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181446.2:c.-29G>A,NM_000145.3:c.-29G>A;ESP6500_MAF=26.6977,24.3759,25.9111;ESP6500_TAC=3370,9636;CLINVAR_AF_ESP=0.2591;CLINVAR_AF_EXAC=0.31602;CLINVAR_AF_TGP=0.3451;CLINVAR_ALLELEID=141106;CLINVAR_CLNDISDB=MedGen:C0085083,OMIM:608115,Orphanet:ORPHA64739,SNOMED_CT:129635004|MedGen:C0342510|MedGen:CN169374;CLINVAR_CLNDN=Ovarian_hyperstimulation_syndrome|Ovarian_Dysgenesis|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.49154446C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24921;CLINVAR_GENEINFO=FSHR:2492;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1394205	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2251,228,0
chr2	49154557	rs67177405;rs766167157;rs869101421	CTTT	C	947.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.82;SOR=1.893;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67177405;dbSNPBuildID=138,144,147;ANN=C|upstream_gene_variant|MODIFIER|FSHR|FSHR|transcript|NM_000145.3|protein_coding||c.-143_-141delAAA|||||31|,C|upstream_gene_variant|MODIFIER|FSHR|FSHR|transcript|NM_181446.2|protein_coding||c.-143_-141delAAA|||||31|,C|intergenic_region|MODIFIER|FSHR-NRXN1|FSHR-NRXN1|intergenic_region|FSHR-NRXN1|||n.49154558_49154560delTTT||||||;p3_1000G_AC=1785;p3_1000G_AF=0.35643;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=19268;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.2903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=49381696;p3_1000G_GRCH37_REF=CTTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,23:23:75:985,75,0
chr2	49973972	rs9636391	A	G	1972.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=1.646;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9636391;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|NRXN1|NRXN1|transcript|NM_001320156.3|protein_coding|1/3|c.29T>C|p.Leu10Ser|232/4071|29/429|10/142||,G|missense_variant|MODERATE|NRXN1|NRXN1|transcript|NM_001320157.3|protein_coding|1/3|c.29T>C|p.Leu10Ser|232/4062|29/420|10/139||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|22/23|c.4249-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330091.1|protein_coding|5/6|c.1024-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330092.1|protein_coding|5/6|c.1024-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330097.1|protein_coding|4/5|c.934-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_138735.4|protein_coding|4/5|c.934-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|20/21|c.4105-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|21/22|c.4129-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|20/21|c.4105-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|16/17|c.3973-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|17/18|c.4063-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|20/21|c.4102-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|21/22|c.4129-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|15/16|c.3928-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|16/17|c.3958-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|21/22|c.4126-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|20/21|c.4117-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|18/19|c.3988-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|15/16|c.3928-30181T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|20/21|c.4039-30181T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4078;p3_1000G_AF=0.814297;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=16853;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50201110;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2001,195,0
chr2	50053145	rs1363050	T	C	144.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1363050;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|22/23|c.4248+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330091.1|protein_coding|5/6|c.1023+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330092.1|protein_coding|5/6|c.1023+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330097.1|protein_coding|4/5|c.933+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_138735.4|protein_coding|4/5|c.933+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|20/21|c.4104+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|21/22|c.4128+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|20/21|c.4104+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|16/17|c.3972+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|17/18|c.4062+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|20/21|c.4101+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|21/22|c.4128+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|15/16|c.3927+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|16/17|c.3957+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|21/22|c.4125+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|20/21|c.4116+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|18/19|c.3987+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|15/16|c.3927+126A>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|20/21|c.4038+126A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3698;p3_1000G_AF=0.738419;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=18929;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50280283;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:173,15,0
chr2	50053200	rs1363049	G	A	577.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1363049;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|22/23|c.4248+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330091.1|protein_coding|5/6|c.1023+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330092.1|protein_coding|5/6|c.1023+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330097.1|protein_coding|4/5|c.933+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_138735.4|protein_coding|4/5|c.933+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|20/21|c.4104+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|21/22|c.4128+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|20/21|c.4104+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|16/17|c.3972+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|17/18|c.4062+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|20/21|c.4101+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|21/22|c.4128+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|15/16|c.3927+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|16/17|c.3957+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|21/22|c.4125+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|20/21|c.4116+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|18/19|c.3987+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|15/16|c.3927+71C>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|20/21|c.4038+71C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2941;p3_1000G_AF=0.58726;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=18978;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.6103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50280338;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:606,57,0
chr2	50207603	rs17040210	C	T	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17040210;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|19/23|c.3666+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330091.1|protein_coding|2/6|c.441+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330092.1|protein_coding|2/6|c.441+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330097.1|protein_coding|2/5|c.441+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_138735.4|protein_coding|2/5|c.441+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|17/21|c.3522+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|18/22|c.3546+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|17/21|c.3522+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|14/17|c.3480+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|14/18|c.3480+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|17/21|c.3519+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|18/22|c.3546+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|13/16|c.3435+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|14/17|c.3465+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|18/22|c.3543+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|17/21|c.3534+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|16/19|c.3495+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|13/16|c.3435+29186G>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|18/21|c.3546+29186G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1695;p3_1000G_AF=0.338458;p3_1000G_AFR_AF=0.4123;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=14595;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50434741;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:535,51,0
chr2	50207621	rs1715984	C	G	633.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1715984;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|19/23|c.3666+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330091.1|protein_coding|2/6|c.441+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330092.1|protein_coding|2/6|c.441+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330097.1|protein_coding|2/5|c.441+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_138735.4|protein_coding|2/5|c.441+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|17/21|c.3522+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|18/22|c.3546+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|17/21|c.3522+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|14/17|c.3480+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|14/18|c.3480+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|17/21|c.3519+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|18/22|c.3546+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|13/16|c.3435+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|14/17|c.3465+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|18/22|c.3543+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|17/21|c.3534+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|16/19|c.3495+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|13/16|c.3435+29168G>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|18/21|c.3546+29168G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4336;p3_1000G_AF=0.865815;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=14599;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50434759;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:662,57,0
chr2	50495790	rs2241175	G	T	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.481;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.05;ReadPosRankSum=0.844;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241175;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|16/23|c.3190+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|14/21|c.3046+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|15/22|c.3070+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|14/21|c.3046+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|11/17|c.3004+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|11/18|c.3004+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|14/21|c.3043+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|15/22|c.3070+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|10/16|c.2959+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|11/17|c.2989+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|15/22|c.3067+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|14/21|c.3058+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|13/19|c.3019+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|10/16|c.2959+115C>A||||||,T|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|15/21|c.3070+115C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1194;p3_1000G_AF=0.238419;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=16423;p3_1000G_EAS_AF=0.3968;p3_1000G_EUR_AF=0.0815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50722928;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,9:14:99:295,0,177
chr2	50506722	rs7584062	A	G	371.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.6;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7584062;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|13/23|c.2495-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|11/21|c.2351-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|12/22|c.2375-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|11/21|c.2351-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|8/17|c.2309-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|8/18|c.2309-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|11/21|c.2348-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|12/22|c.2375-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|7/16|c.2264-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|8/17|c.2294-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|12/22|c.2372-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|11/21|c.2363-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|10/19|c.2324-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|7/16|c.2264-105T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|12/21|c.2375-105T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16533;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50733860;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:38:400,38,0
chr2	50553081	rs13429627	T	G	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.998;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.289;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13429627;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|9/23|c.1441-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|7/21|c.1297-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|8/22|c.1321-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|7/21|c.1297-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|5/17|c.1282-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|5/18|c.1282-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|8/21|c.1321-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|8/22|c.1321-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|4/16|c.1237-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|5/17|c.1267-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|8/22|c.1318-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|7/21|c.1309-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|7/19|c.1297-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|4/16|c.1237-56A>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|8/21|c.1321-56A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1537;p3_1000G_AF=0.306909;p3_1000G_AFR_AF=0.3555;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=16775;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50780219;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:180,0,213
chr2	50616533	rs2042472	A	G	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.26;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=6.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.062;SOR=0.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2042472;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|9/23|c.1440+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|7/21|c.1296+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|8/22|c.1320+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|7/21|c.1296+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|5/17|c.1281+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|5/18|c.1281+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|8/21|c.1320+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|8/22|c.1320+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|4/16|c.1236+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|5/17|c.1266+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|8/22|c.1317+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|7/21|c.1308+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|7/19|c.1296+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|4/16|c.1236+3489T>C||||||,G|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|8/21|c.1320+3489T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2451;p3_1000G_AF=0.489417;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=17062;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.3668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50843671;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,11:17:99:307,0,174
chr2	50623548	rs2303298;129827	G	A	481.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.076;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=5.024;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-1.814;SOR=0.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303298;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|7/24|c.999C>T|p.Pro333Pro|2476/9560|999/4644|333/1547||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|6/22|c.900C>T|p.Pro300Pro|2377/9416|900/4500|300/1499||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|6/23|c.900C>T|p.Pro300Pro|2377/9440|900/4524|300/1507||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|6/22|c.900C>T|p.Pro300Pro|2377/9407|900/4491|300/1496||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|3/18|c.840C>T|p.Pro280Pro|2317/9275|840/4359|280/1452||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|3/19|c.840C>T|p.Pro280Pro|2317/9374|840/4458|280/1485||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|6/22|c.900C>T|p.Pro300Pro|2377/9413|900/4497|300/1498||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|6/23|c.900C>T|p.Pro300Pro|2377/9431|900/4515|300/1504||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|3/17|c.840C>T|p.Pro280Pro|2317/9239|840/4323|280/1440||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|4/18|c.870C>T|p.Pro290Pro|2347/9260|870/4344|290/1447||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|6/23|c.897C>T|p.Pro299Pro|2374/9437|897/4521|299/1506||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|5/22|c.888C>T|p.Pro296Pro|2365/9419|888/4503|296/1500||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|6/20|c.900C>T|p.Pro300Pro|2377/9299|900/4383|300/1460||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|3/17|c.840C>T|p.Pro280Pro|2317/9230|840/4314|280/1437||,A|synonymous_variant|LOW|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|6/22|c.900C>T|p.Pro300Pro|2377/9350|900/4434|300/1477||;p3_1000G_AA=G|||;p3_1000G_AC=212;p3_1000G_AF=0.0423323;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=17121;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50850686;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=136,3602;ESP6500_AA_GTC=4,128,1737;ESP6500_CDS_SIZES=NM_004801.4:4434,NM_001135659.1:4644;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=131;ESP6500_EA_AC=20,8172;ESP6500_EA_GTC=0,20,4076;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004801.4:coding-synonymous,NM_001135659.1:coding-synonymous;ESP6500_GL=NRXN1;ESP6500_GRCh38_POSITION=2:50623548;ESP6500_GTC=4,148,5813;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004801.4:c.900C>T,NM_001135659.1:c.999C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004801.4:p.(P300),NM_001135659.1:p.(P333);ESP6500_MAF=0.2441,3.6383,1.3076;ESP6500_TAC=156,11774;CLINVAR_AF_ESP=0.0131;CLINVAR_AF_EXAC=0.02268;CLINVAR_AF_TGP=0.0423;CLINVAR_ALLELEID=135273;CLINVAR_CLNDISDB=MedGen:C3280479,OMIM:614325|MedGen:CN169374|MedGen:CN239445,Orphanet:ORPHA221150;CLINVAR_CLNDN=Pitt-Hopkins-like_syndrome_2|not_specified|Pitt-Hopkins-like_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.50623548G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:114395;CLINVAR_GENEINFO=NRXN1:9378;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303298	GT:AD:DP:GQ:PL	0/1:43,25:68:99:510,0,1077
chr2	50630969	rs961405	T	A	245.1	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.589;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.23;ReadPosRankSum=-0.282;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs961405;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|6/23|c.929+130A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|5/21|c.830+130A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|5/22|c.830+130A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|5/21|c.830+130A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|2/17|c.773-7354A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|2/18|c.773-7354A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|5/21|c.830+130A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|5/22|c.830+130A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|2/16|c.773-7354A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|3/17|c.803-7354A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|5/22|c.827+130A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|4/21|c.821-7354A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|5/19|c.830+130A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|2/16|c.773-7354A>T||||||,A|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|5/21|c.830+130A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2789;p3_1000G_AF=0.556909;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=15055;p3_1000G_EAS_AF=0.6657;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=50858107;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,8:9:11:273,0,11
chr2	50919367	rs150783914	A	C	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.4;ReadPosRankSum=0.379;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150783914;dbSNPBuildID=134;ANN=C|3_prime_UTR_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330079.1|protein_coding|6/6|c.*635T>G|||||635|,C|3_prime_UTR_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330081.1|protein_coding|6/6|c.*635T>G|||||635|,C|downstream_gene_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330089.1|protein_coding||c.*3238T>G|||||3154|,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001135659.2|protein_coding|5/23|c.922+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330077.1|protein_coding|4/21|c.823+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330078.1|protein_coding|4/22|c.823+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330082.1|protein_coding|4/21|c.823+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330083.1|protein_coding|2/17|c.772+108135T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330084.1|protein_coding|2/18|c.772+108135T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330085.1|protein_coding|4/21|c.823+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330086.1|protein_coding|4/22|c.823+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330087.1|protein_coding|2/16|c.772+108135T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330088.1|protein_coding|3/17|c.802+3291T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330093.1|protein_coding|4/22|c.820+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330094.1|protein_coding|4/21|c.820+3291T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330095.1|protein_coding|4/19|c.823+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330096.1|protein_coding|2/16|c.772+108135T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_004801.5|protein_coding|4/21|c.823+3288T>G||||||,C|intron_variant|MODIFIER|NRXN1|NRXN1|transcript|NM_001330090.1|protein_coding|5/5|c.831-97T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=34;p3_1000G_AF=0.00678914;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17162;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=51146505;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,17:22:99:543,0,121
chr2	53604935	rs2357490	C	T	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.976;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=0.109;SOR=1.19;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2357490;dbSNPBuildID=100;ANN=T|intergenic_region|MODIFIER|MIR4431-ASB3|MIR4431-ASB3|intergenic_region|MIR4431-ASB3|||n.53604935C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1092;p3_1000G_AF=0.218051;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=20536;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53832072;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,14:24:99:414,0,237
chr2	53693794	rs7563054	G	A	21.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=1.07;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7563054;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ASB3|ASB3|transcript|NM_016115.4|protein_coding|9/9|c.1369+90C>T||||||,A|intron_variant|MODIFIER|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|9/9|c.1483+90C>T||||||,A|intron_variant|MODIFIER|ASB3|ASB3|transcript|NM_001201965.1|protein_coding|8/8|c.1150+90C>T||||||,A|intron_variant|MODIFIER|ASB3|ASB3|transcript|NM_145863.2|protein_coding|8/8|c.1150+90C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2197;p3_1000G_AF=0.438698;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=18591;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.2783;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53920931;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:50:50,0,138
chr2	53694133	rs3731970	C	T	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.35;ReadPosRankSum=-0.253;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731970;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ASB3|ASB3|transcript|NM_016115.4|protein_coding|8/9|c.1239-119G>A||||||,T|intron_variant|MODIFIER|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|8/9|c.1353-119G>A||||||,T|intron_variant|MODIFIER|ASB3|ASB3|transcript|NM_001201965.1|protein_coding|7/8|c.1020-119G>A||||||,T|intron_variant|MODIFIER|ASB3|ASB3|transcript|NM_145863.2|protein_coding|7/8|c.1020-119G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1354;p3_1000G_AF=0.270367;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=21745;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53921270;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:29:130,0,29
chr2	53716559	rs3213768	C	T	532.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.278;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.091;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213768;dbSNPBuildID=106;ANN=T|splice_region_variant&intron_variant|LOW|ASB3|ASB3|transcript|NM_016115.4|protein_coding|6/9|c.782+7G>A||||||,T|splice_region_variant&intron_variant|LOW|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|6/9|c.896+7G>A||||||,T|splice_region_variant&intron_variant|LOW|ASB3|ASB3|transcript|NM_001201965.1|protein_coding|5/8|c.563+7G>A||||||,T|splice_region_variant&intron_variant|LOW|ASB3|ASB3|transcript|NM_145863.2|protein_coding|5/8|c.563+7G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=667;p3_1000G_AF=0.133187;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=18907;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.0467;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53943696;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=269,4137;ESP6500_AA_AGE=150.7+/-184.7;ESP6500_AA_GTC=5,259,1939;ESP6500_CDS_SIZES=NM_145863.2:1338,NM_016115.4:1557,NM_001201965.1:1338,NM_001164165.1:1671;ESP6500_CG=-0.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=121;ESP6500_EA_AC=277,8323;ESP6500_EA_AGE=104.2+/-165.2;ESP6500_EA_GTC=4,269,4027;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145863.2:intron,NM_016115.4:intron,NM_001201965.1:intron,NM_001164165.1:intron;ESP6500_GL=ASB3,GPR75-ASB3;ESP6500_GRCh38_POSITION=2:53716559;ESP6500_GTC=9,528,5966;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145863.2:c.563+7G>A,NM_016115.4:c.782+7G>A,NM_001201965.1:c.563+7G>A,NM_001164165.1:c.896+7G>A;ESP6500_MAF=3.2209,6.1053,4.1981;ESP6500_TAC=546,12460	GT:AD:DP:GQ:PL	0/1:15,22:37:99:561,0,448
chr2	53765456	rs2287339	A	T	1199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.684;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=2.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.76;SOR=0.523;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287339;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ASB3|ASB3|transcript|NM_016115.4|protein_coding|2/10|c.117T>A|p.Ala39Ala|319/2282|117/1557|39/518||,T|synonymous_variant|LOW|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|2/10|c.231T>A|p.Ala77Ala|336/1963|231/1671|77/556||,T|upstream_gene_variant|MODIFIER|CHAC2|CHAC2|transcript|NM_001008708.2|protein_coding||c.-2431A>T|||||2336|,T|intron_variant|MODIFIER|ASB3|ASB3|transcript|NM_001201965.1|protein_coding|1/8|c.-23-14515T>A||||||,T|intron_variant|MODIFIER|ASB3|ASB3|transcript|NM_145863.2|protein_coding|1/8|c.-23-14515T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=561;p3_1000G_AF=0.112021;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=20114;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=53992593;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=67,4339;ESP6500_AA_AGE=61.1+/-98.1;ESP6500_AA_GTC=0,67,2136;ESP6500_CDS_SIZES=NM_145863.2:1338,NM_016115.4:1557,NM_001201965.1:1338,NM_001164165.1:1671;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=198;ESP6500_EA_AC=213,8387;ESP6500_EA_AGE=89.7+/-151.9;ESP6500_EA_GTC=1,211,4088;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145863.2:intron,NM_016115.4:coding-synonymous,NM_001201965.1:intron,NM_001164165.1:coding-synonymous;ESP6500_GL=ASB3,GPR75-ASB3;ESP6500_GRCh38_POSITION=2:53765456;ESP6500_GTC=1,278,6224;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_145863.2:c.-14538T>A,NM_016115.4:c.117T>A,NM_001201965.1:c.-14538T>A,NM_001164165.1:c.231T>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_016115.4:p.(A39),.,NM_001164165.1:p.(A77);ESP6500_MAF=2.4767,1.5207,2.1529;ESP6500_TAC=280,12726	GT:AD:DP:GQ:PL	0/1:69,58:127:99:1228,0,1578
chr2	53787421	rs2287342	G	T	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.035;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.673;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=1.09;SOR=1.3;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287342;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|ASB3|ASB3|transcript|NM_016115.4|protein_coding||c.-21849C>A|||||412|,T|upstream_gene_variant|MODIFIER|ASB3|ASB3|transcript|NM_001201965.1|protein_coding||c.-36503C>A|||||573|,T|upstream_gene_variant|MODIFIER|ASB3|ASB3|transcript|NM_145863.2|protein_coding||c.-36503C>A|||||412|,T|intron_variant|MODIFIER|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|1/9|c.102-21836C>A||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_015701.4|protein_coding|1/13|c.162+49G>T||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127397.2|protein_coding|1/12|c.162+49G>T||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127398.2|protein_coding|1/12|c.162+49G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=622;p3_1000G_AF=0.124201;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=17968;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.0477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54014558;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=263,4143;ESP6500_AA_AGE=133.3+/-169.7;ESP6500_AA_GTC=5,253,1945;ESP6500_CDS_SIZES=NM_015701.4:1452,NM_001164165.1:1671,NM_001127398.2:1290,NM_001127397.2:1374;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=275,8325;ESP6500_EA_AGE=100.6+/-161.9;ESP6500_EA_GTC=4,267,4029;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015701.4:intron,NM_001164165.1:intron,NM_001127398.2:intron,NM_001127397.2:intron;ESP6500_GL=ERLEC1,GPR75-ASB3;ESP6500_GRCh38_POSITION=2:53787421;ESP6500_GTC=9,520,5974;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015701.4:c.162+49G>T,NM_001164165.1:c.102-21836C>A,NM_001127398.2:c.162+49G>T,NM_001127397.2:c.162+49G>T;ESP6500_MAF=3.1977,5.9691,4.1366;ESP6500_TAC=538,12468	GT:AD:DP:GQ:PL	0/1:32,18:50:99:382,0,803
chr2	53796110	rs72502136;rs542259562	GT	G	101.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.668;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.93;SOR=0.527;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72502136;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|1/9|c.102-30526delA||||||,G|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_015701.4|protein_coding|3/13|c.348+108delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127397.2|protein_coding|3/12|c.348+108delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127398.2|protein_coding|3/12|c.348+108delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2801;p3_1000G_AF=0.559305;p3_1000G_AFR_AF=0.5772;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=16194;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.4612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54023247;p3_1000G_GRCH37_REF=GT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6247;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,6:10:83:139,0,83
chr2	53797489	rs2692514	C	T	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.431;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2692514;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|1/9|c.102-31904G>A||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_015701.4|protein_coding|3/13|c.349-26C>T||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127397.2|protein_coding|3/12|c.349-26C>T||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127398.2|protein_coding|3/12|c.349-26C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2404;p3_1000G_AF=0.480032;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=15607;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54024626;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2303,2103;ESP6500_AA_AGE=537.6+/-374.8;ESP6500_AA_GTC=620,1063,520;ESP6500_CDS_SIZES=NM_015701.4:1452,NM_001164165.1:1671,NM_001127398.2:1290,NM_001127397.2:1374;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=3379,5219;ESP6500_EA_AGE=630.7+/-398.4;ESP6500_EA_GTC=654,2071,1574;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015701.4:intron,NM_001164165.1:intron,NM_001127398.2:intron,NM_001127397.2:intron;ESP6500_GL=ERLEC1,GPR75-ASB3;ESP6500_GRCh38_POSITION=2:53797489;ESP6500_GTC=1274,3134,2094;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015701.4:c.349-26C>T,NM_001164165.1:c.102-31904G>A,NM_001127398.2:c.349-26C>T,NM_001127397.2:c.349-26C>T;ESP6500_MAF=39.2998,47.7304,43.6942;ESP6500_TAC=5682,7322	GT:AD:DP:GQ:PL	0/1:2,2:4:60:60,0,69
chr2	53808401	rs188010626	A	C	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=0.17;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs188010626;dbSNPBuildID=135;ANN=C|missense_variant|MODERATE|ERLEC1|ERLEC1|transcript|NM_015701.4|protein_coding|9/14|c.982A>C|p.Lys328Gln|1262/2582|982/1452|328/483||,C|missense_variant|MODERATE|ERLEC1|ERLEC1|transcript|NM_001127397.2|protein_coding|9/13|c.982A>C|p.Lys328Gln|1262/2504|982/1374|328/457||,C|intron_variant|MODIFIER|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|1/9|c.102-42816T>G||||||,C|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127398.2|protein_coding|8/12|c.880-813A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17580;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54035538;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,13:38:99:296,0,588
chr2	53808513	rs2287346	G	A	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.148;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.223;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287346;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|1/9|c.102-42928C>T||||||,A|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_015701.4|protein_coding|9/13|c.1041+53G>A||||||,A|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127397.2|protein_coding|9/12|c.1041+53G>A||||||,A|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127398.2|protein_coding|8/12|c.880-701G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=596;p3_1000G_AF=0.11901;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=17735;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.0477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54035650;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:203,0,251
chr2	53814846	rs2542571	G	T	119.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.97;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2542571;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|GPR75-ASB3|GPR75-ASB3|transcript|NM_001164165.1|protein_coding|1/9|c.101+44982C>A||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_015701.4|protein_coding|12/13|c.1305-14G>T||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127397.2|protein_coding|11/12|c.1227-14G>T||||||,T|intron_variant|MODIFIER|ERLEC1|ERLEC1|transcript|NM_001127398.2|protein_coding|11/12|c.1143-14G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2435;p3_1000G_AF=0.486222;p3_1000G_AFR_AF=0.5726;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=12458;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.4274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54041983;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2333,2073;ESP6500_AA_AGE=566.5+/-381.9;ESP6500_AA_GTC=636,1061,506;ESP6500_CDS_SIZES=NM_015701.4:1452,NM_001164165.1:1671,NM_001127398.2:1290,NM_001127397.2:1374;ESP6500_CG=-1.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=85;ESP6500_EA_AC=3609,4989;ESP6500_EA_AGE=624.2+/-397.5;ESP6500_EA_GTC=737,2135,1427;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015701.4:intron,NM_001164165.1:intron,NM_001127398.2:intron,NM_001127397.2:intron;ESP6500_GL=ERLEC1,GPR75-ASB3;ESP6500_GRCh38_POSITION=2:53814846;ESP6500_GTC=1373,3196,1933;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015701.4:c.1305-14G>T,NM_001164165.1:c.101+44982C>A,NM_001127398.2:c.1143-14G>T,NM_001127397.2:c.1227-14G>T;ESP6500_MAF=41.9749,47.0495,45.6936;ESP6500_TAC=5942,7062	GT:AD:DP:GQ:PL	1/1:0,6:6:18:148,18,0
chr2	53875854	rs72799242	T	C	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.328;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72799242;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|41/46|c.4816-99A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=697;p3_1000G_AF=0.139177;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=17939;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54102991;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:103,0,137
chr2	53887830	rs805399	G	A	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.053;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=1.48;SOR=0.635;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805399;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|39/46|c.4520+28C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1735;p3_1000G_AF=0.346446;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=19012;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.2992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54114967;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=927,3479;ESP6500_AA_AGE=352.8+/-311.9;ESP6500_AA_GTC=87,753,1363;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=84;ESP6500_EA_AC=2590,6010;ESP6500_EA_AGE=415.5+/-351.8;ESP6500_EA_GTC=384,1822,2094;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:intron;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53887830;ESP6500_GTC=471,2575,3457;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.4520+28C>T;ESP6500_MAF=30.1163,21.0395,27.0414;ESP6500_TAC=3517,9489	GT:AD:DP:GQ:PL	0/1:18,9:27:99:255,0,526
chr2	53888767	rs805400	A	G	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.766;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-0.639;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805400;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|PSME4|PSME4|transcript|NM_014614.2|protein_coding|38/47|c.4342T>C|p.Leu1448Leu|4398/7099|4342/5532|1448/1843||;p3_1000G_AA=A|||;p3_1000G_AC=1763;p3_1000G_AF=0.352037;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=17217;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.3072;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54115904;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=949,3457;ESP6500_AA_AGE=360.6+/-315.3;ESP6500_AA_GTC=91,767,1345;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=2.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=124;ESP6500_EA_AC=2667,5933;ESP6500_EA_AGE=428.8+/-356.0;ESP6500_EA_GTC=401,1865,2034;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:coding-synonymous;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53888767;ESP6500_GTC=492,2632,3379;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.4342T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014614.2:p.(L1448);ESP6500_MAF=31.0116,21.5388,27.8026;ESP6500_TAC=3616,9390	GT:AD:DP:GQ:PL	0/1:3,11:14:49:248,0,49
chr2	53888866	rs805401	C	T	114.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs805401;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|37/46|c.4297-54G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1760;p3_1000G_AF=0.351438;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=16958;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54116003;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=282,1102;ESP6500_AA_GTC=21,240,431;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=67;ESP6500_EA_AC=960,2222;ESP6500_EA_GTC=135,690,766;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:intron;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53888866;ESP6500_GTC=156,930,1197;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.4297-54G>A;ESP6500_MAF=30.1697,20.3757,27.2011;ESP6500_TAC=1242,3324	GT:AD:DP:GQ:PL	1/1:0,4:4:12:142,12,0
chr2	53892888	rs805408	A	T	571.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.726;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.813;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805408;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|PSME4|PSME4|transcript|NM_014614.2|protein_coding|36/47|c.4111T>A|p.Ser1371Thr|4167/7099|4111/5532|1371/1843||;p3_1000G_AA=A|||;p3_1000G_AC=1749;p3_1000G_AF=0.349241;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=16857;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.3002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54120025;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=931,3475;ESP6500_AA_AGE=355.9+/-313.2;ESP6500_AA_GTC=87,757,1359;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=101;ESP6500_EA_AC=2595,6005;ESP6500_EA_AGE=420.4+/-353.4;ESP6500_EA_GTC=385,1825,2090;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014614.2:missense;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53892888;ESP6500_GS=58;ESP6500_GTC=472,2582,3449;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.4111T>A;ESP6500_HGVS_PROTEIN_VAR=NM_014614.2:p.(S1371T);ESP6500_MAF=30.1744,21.1303,27.1106;ESP6500_PH=benign:0.003;ESP6500_TAC=3526,9480	GT:AD:DP:GQ:PL	0/1:24,27:51:99:600,0,578
chr2	53893683	rs805412	G	A	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.366;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=0.273;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805412;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|PSME4|PSME4|transcript|NM_014614.2|protein_coding|35/47|c.4029C>T|p.Cys1343Cys|4085/7099|4029/5532|1343/1843||;p3_1000G_AA=A|||;p3_1000G_AC=2870;p3_1000G_AF=0.573083;p3_1000G_AFR_AF=0.5741;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=17845;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54120820;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2298,2106;ESP6500_AA_AGE=563.4+/-381.2;ESP6500_AA_GTC=607,1084,511;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=82;ESP6500_EA_AC=3621,4971;ESP6500_EA_AGE=618.1+/-396.7;ESP6500_EA_GTC=762,2097,1437;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:coding-synonymous;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53893683;ESP6500_GTC=1369,3181,1948;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.4029C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014614.2:p.(C1343);ESP6500_MAF=42.1439,47.8202,45.5448;ESP6500_TAC=5919,7077	GT:AD:DP:GQ:PL	0/1:13,9:22:99:199,0,365
chr2	53895509	rs2302876	C	T	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.415;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.629;SOR=0.238;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302876;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|33/46|c.3842+74G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=672;p3_1000G_AF=0.134185;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=18411;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54122646;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:198,0,298
chr2	53895819	rs698856	A	G	354.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.21;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs698856;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|32/46|c.3689-83T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4124;p3_1000G_AF=0.823482;p3_1000G_AFR_AF=0.9569;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=17839;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54122956;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:383,30,0
chr2	53897764	rs80145461	T	C	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.88;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.713;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80145461;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|31/46|c.3606+106A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=619;p3_1000G_AF=0.123602;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=17916;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54124901;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,8:20:99:281,0,310
chr2	53898358	rs805417;rs553838659	T	C	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.108;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.25;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805417;dbSNPBuildID=86;ANN=C|splice_region_variant&intron_variant|LOW|PSME4|PSME4|transcript|NM_014614.2|protein_coding|29/46|c.3423-4A>G||||||;p3_1000G_AC=1739;p3_1000G_AF=0.347244;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=15046;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.2992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54125495;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP,INDEL;ESP6500_AA=T;ESP6500_AA_AC=921,3483;ESP6500_AA_AGE=321.5+/-297.2;ESP6500_AA_GTC=87,747,1368;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=-1.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=30;ESP6500_EA_AC=2581,6013;ESP6500_EA_AGE=400.1+/-346.7;ESP6500_EA_GTC=383,1815,2099;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:intron;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53898358;ESP6500_GTC=470,2562,3467;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.3423-4A>G;ESP6500_MAF=30.0326,20.9128,26.9426;ESP6500_TAC=3502,9496	GT:AD:DP:GQ:PL	0/1:4,3:7:72:72,0,101
chr2	53899904	rs805423	C	T	663.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=3.325;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.37;SOR=0.928;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805423;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PSME4|PSME4|transcript|NM_014614.2|protein_coding|29/47|c.3399G>A|p.Gln1133Gln|3455/7099|3399/5532|1133/1843||;p3_1000G_AA=T|||;p3_1000G_AC=3048;p3_1000G_AF=0.608626;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=19545;p3_1000G_EAS_AF=0.7331;p3_1000G_EUR_AF=0.494;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54127041;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2587,1819;ESP6500_AA_AGE=532.3+/-373.4;ESP6500_AA_GTC=767,1053,383;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=218;ESP6500_EA_AC=4160,4440;ESP6500_EA_AGE=587.9+/-392.3;ESP6500_EA_GTC=993,2174,1133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:coding-synonymous;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53899904;ESP6500_GTC=1760,3227,1516;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.3399G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014614.2:p.(Q1133);ESP6500_MAF=48.3721,41.2846,48.1239;ESP6500_TAC=6747,6259	GT:AD:DP:GQ:PL	0/1:38,28:66:99:692,0,866
chr2	53908292	rs805319	G	C	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.403;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=2.1;SOR=0.507;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805319;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|24/46|c.2784+28C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1760;p3_1000G_AF=0.351438;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=16753;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.3131;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54135429;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5225;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=925,3481;ESP6500_AA_GTC=91,743,1369;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=39;ESP6500_EA_AC=2654,5936;ESP6500_EA_GTC=405,1844,2046;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:intron;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53908292;ESP6500_GTC=496,2587,3415;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.2784+28C>G;ESP6500_MAF=30.8964,20.9941,27.5392;ESP6500_TAC=3579,9417	GT:AD:DP:GQ:PL	0/1:7,13:20:99:449,0,235
chr2	53908799	rs2302878	T	C	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=1.01;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302878;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|PSME4|PSME4|transcript|NM_014614.2|protein_coding|22/47|c.2614A>G|p.Ile872Val|2670/7099|2614/5532|872/1843||;p3_1000G_AA=T|||;p3_1000G_AC=527;p3_1000G_AF=0.105232;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=15716;p3_1000G_EAS_AF=0.2163;p3_1000G_EUR_AF=0.0109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54135936;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1145;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=391,4013;ESP6500_AA_AGE=188.5+/-214.9;ESP6500_AA_GTC=21,349,1832;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=86;ESP6500_EA_AC=87,8501;ESP6500_EA_AGE=48.5+/-108.0;ESP6500_EA_GTC=0,87,4207;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014614.2:missense;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53908799;ESP6500_GS=29;ESP6500_GTC=21,436,6039;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.2614A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014614.2:p.(I872V);ESP6500_MAF=1.013,8.8783,3.6792;ESP6500_PH=benign:0.001;ESP6500_TAC=478,12514	GT:AD:DP:GQ:PL	0/1:10,8:18:99:216,0,242
chr2	53909999	rs2056650	A	G	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.476;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.804;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2056650;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|21/46|c.2572+76T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=627;p3_1000G_AF=0.1252;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=19629;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54137136;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,10:14:81:250,0,81
chr2	53921194	rs805330	C	A	84.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs805330;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|17/46|c.2047-90G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2925;p3_1000G_AF=0.584065;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=19822;p3_1000G_EAS_AF=0.7302;p3_1000G_EUR_AF=0.4493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54148331;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:112,9,0
chr2	53922942	rs3213774	A	T	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-0.431;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213774;dbSNPBuildID=106;ANN=T|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|16/46|c.1978+107T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=611;p3_1000G_AF=0.122005;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=17398;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54150079;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:58:180,0,58
chr2	53925790	rs2302879	T	C	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=-1.408;SOR=2.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302879;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|13/46|c.1659-101A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1761;p3_1000G_AF=0.351637;p3_1000G_AFR_AF=0.2179;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=20856;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54152927;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:231,0,150
chr2	53928103	rs805349	A	G	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=0.132;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805349;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|11/46|c.1503+14T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1785;p3_1000G_AF=0.35643;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=16389;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.3091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54155240;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1018,3388;ESP6500_AA_AGE=377.8+/-322.6;ESP6500_AA_GTC=108,802,1293;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=77;ESP6500_EA_AC=2678,5922;ESP6500_EA_AGE=429.9+/-356.3;ESP6500_EA_GTC=407,1864,2029;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:intron;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53928103;ESP6500_GTC=515,2666,3322;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.1503+14T>C;ESP6500_MAF=31.1395,23.1049,28.4177;ESP6500_TAC=3696,9310	GT:AD:DP:GQ:PL	0/1:9,5:14:99:140,0,280
chr2	53931820	rs805352	C	T	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.254;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-2.756;SOR=0.332;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805352;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|10/46|c.1316+15G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1752;p3_1000G_AF=0.34984;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=19292;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.3072;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54158957;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=944,3462;ESP6500_AA_AGE=358.4+/-314.3;ESP6500_AA_GTC=90,764,1349;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=57;ESP6500_EA_AC=2653,5947;ESP6500_EA_AGE=426.2+/-355.2;ESP6500_EA_GTC=401,1851,2048;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:intron;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53931820;ESP6500_GTC=491,2615,3397;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.1316+15G>A;ESP6500_MAF=30.8488,21.4253,27.6565;ESP6500_TAC=3597,9409	GT:AD:DP:GQ:PL	0/1:19,9:28:99:239,0,614
chr2	53934748	rs805357	G	T	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.68;ReadPosRankSum=-0.241;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs805357;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|7/46|c.835-21C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1739;p3_1000G_AF=0.347244;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=15276;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.3072;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54161885;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=826,3536;ESP6500_AA_GTC=76,674,1431;ESP6500_CDS_SIZES=NM_014614.2:5532;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=21;ESP6500_EA_AC=2564,6008;ESP6500_EA_GTC=378,1808,2100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014614.2:intron;ESP6500_GL=PSME4;ESP6500_GRCh38_POSITION=2:53934748;ESP6500_GTC=454,2482,3531;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_014614.2:c.835-21C>A;ESP6500_MAF=29.9113,18.9363,26.21;ESP6500_TAC=3390,9544	GT:AD:DP:GQ:PL	0/1:5,2:7:61:61,0,173
chr2	53948626	rs2302880	T	C	41.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.126;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302880;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding|2/46|c.384-89A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=610;p3_1000G_AF=0.121805;p3_1000G_AFR_AF=0.0393;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=20885;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54175763;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:70:70,0,97
chr2	53973793	rs10168293	G	A	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.41;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=-1.027;QD=9.34;ReadPosRankSum=0.525;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10168293;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/7|c.45G>A|p.Thr15Thr|300/1270|45/519|15/172||,A|synonymous_variant|LOW|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/6|c.45G>A|p.Thr15Thr|300/1177|45/426|15/141||,A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3009C>T|||||2953|;p3_1000G_AA=A|||;p3_1000G_AC=2307;p3_1000G_AF=0.460663;p3_1000G_AFR_AF=0.497;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=11842;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54200930;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,19:41:99:411,0,535
chr2	53973855	rs748701614	ATGTG	A	100.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.297;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=59.69;MQRankSum=0.791;QD=7.2;ReadPosRankSum=2.13;SOR=0.148;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs368690755;dbSNPBuildID=144;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3075_-3072delCACA|||||3016|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+89_62+92delGTGT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+89_62+92delGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,4:14:99:138,0,377
chr2	53973857	rs10168374	G	A	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.192;MLEAC=1;MLEAF=0.5;MQ=59.69;MQRankSum=-1.052;QD=13.99;ReadPosRankSum=-0.404;SOR=1.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10168374;dbSNPBuildID=119;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3073C>T|||||3017|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+47G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+47G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=10569;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.4294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54200994;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,10:23:99:0|1:53973857_G_A:350,0,516
chr2	53973859	rs11675556	G	A	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.898;MLEAC=1;MLEAF=0.5;MQ=59.66;MQRankSum=-1.177;QD=15.32;ReadPosRankSum=0.29;SOR=2.461;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11675556;dbSNPBuildID=120;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3075C>T|||||3019|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+49G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+49G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,8:21:99:0|1:53973857_G_A:350,0,516
chr2	53973889	rs1437265273	G	A	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.655;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.13;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3105C>T|||||3049|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+79G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+79G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,4:13:99:0|1:53973857_G_A:183,0,363
chr2	53973891	rs370561846	G	A	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.287;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.908;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370561846;dbSNPBuildID=138;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3107C>T|||||3051|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+81G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+81G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,4:12:99:0|1:53973857_G_A:141,0,366
chr2	53973893	rs866836149	G	A	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.367;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.908;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3109C>T|||||3053|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+83G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+83G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,4:12:99:0|1:53973857_G_A:144,0,324
chr2	53973895	rs868655328	G	A	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.287;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.908;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3111C>T|||||3055|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+85G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+85G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,4:12:99:0|1:53973857_G_A:144,0,324
chr2	53973897	rs865964393	G	A	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.471;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.908;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3113C>T|||||3057|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+87G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+87G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,4:12:99:0|1:53973857_G_A:144,0,324
chr2	53973899	rs868069813	G	A	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.998;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.641;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3115C>T|||||3059|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+89G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+89G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,4:11:99:0|1:53973857_G_A:144,0,324
chr2	53973901	rs143369190	G	A	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.619;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=1.07;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143369190;dbSNPBuildID=134;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-3117C>T|||||3061|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+91G>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+91G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,2:8:99:0|1:53973857_G_A:147,0,282
chr2	53975223	rs11437709;rs539717423	C	CA	107.37	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-1.403;SOR=0.76;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11437709;dbSNPBuildID=142,138;ANN=CA|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-4440dupT|||||4384|,CA|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+1430dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+1430dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1520;p3_1000G_AF=0.303514;p3_1000G_AFR_AF=0.177;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=16122;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54202360;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,8:11:58:136,0,58
chr2	53975311	rs3731967	T	A	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.598;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.83;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731967;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|PSME4|PSME4|transcript|NM_014614.2|protein_coding||c.-4527A>T|||||4471|,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|2/6|c.62+1501T>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|2/5|c.62+1501T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2315;p3_1000G_AF=0.46226;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=19176;p3_1000G_EAS_AF=0.4712;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54202448;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,14:26:99:388,0,278
chr2	54115875	rs7573491	C	A	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-1.622;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7573491;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|4/6|c.278-19578C>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|3/5|c.185-19578C>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320590.1|protein_coding|1/3|c.58+119C>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320589.1|protein_coding|1/4|c.58+119C>A||||||,A|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_138448.3|protein_coding|1/3|c.58+119C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3031;p3_1000G_AF=0.605232;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=14241;p3_1000G_EAS_AF=0.7331;p3_1000G_EUR_AF=0.5348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54343012;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:185,0,313
chr2	54135300	rs2357954	T	C	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=1.41;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2357954;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|4/6|c.278-153T>C||||||,C|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|3/5|c.185-153T>C||||||,C|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320590.1|protein_coding|1/3|c.59-153T>C||||||,C|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320589.1|protein_coding|1/4|c.59-153T>C||||||,C|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_138448.3|protein_coding|1/3|c.59-153T>C||||||,C|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320588.1|protein_coding|1/3|c.-14-153T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2743;p3_1000G_AF=0.547724;p3_1000G_AFR_AF=0.5719;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=19281;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.4056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54362437;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:91:91,0,215
chr2	54255827	rs843704	C	T	1185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.635;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.492;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs843704;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|TSPYL6|TSPYL6|transcript|NM_001003937.2|protein_coding|1/1|c.325G>A|p.Gly109Ser|446/3095|325/1233|109/410||,T|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|6/6|c.405-48861C>T||||||,T|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|5/5|c.312-48861C>T||||||,T|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320589.1|protein_coding|3/4|c.186-11469C>T||||||,T|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_138448.3|protein_coding|3/3|c.186-48861C>T||||||,T|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320588.1|protein_coding|3/3|c.114-48861C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1353;p3_1000G_AF=0.270168;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=16934;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.2624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54482964;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=906,3210;ESP6500_AA_GTC=98,710,1250;ESP6500_CDS_SIZES=NM_138448.3:300,NM_001003937.2:1233;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=43;ESP6500_EA_AC=2146,6242;ESP6500_EA_GTC=277,1592,2325;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138448.3:intron,NM_001003937.2:missense;ESP6500_GL=ACYP2,TSPYL6;ESP6500_GRCh38_POSITION=2:54255827;ESP6500_GS=.,56;ESP6500_GTC=375,2302,3575;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138448.3:c.186-48861C>T,NM_001003937.2:c.325G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001003937.2:p.(G109S);ESP6500_MAF=25.5842,22.0117,24.4082;ESP6500_PH=.,benign:0.065;ESP6500_TAC=3052,9452	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1214,0,1169
chr2	54267233	rs865816	A	G	155.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.97;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs865816;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320586.1|protein_coding|6/6|c.405-37455A>G||||||,G|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320587.1|protein_coding|5/5|c.312-37455A>G||||||,G|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320589.1|protein_coding|3/4|c.186-63A>G||||||,G|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_138448.3|protein_coding|3/3|c.186-37455A>G||||||,G|intron_variant|MODIFIER|ACYP2|ACYP2|transcript|NM_001320588.1|protein_coding|3/3|c.114-37455A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4993;p3_1000G_AF=0.997005;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17546;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54494370;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:184,18,0
chr2	54330223	rs59595339	A	G	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.96;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59595339;dbSNPBuildID=129;ANN=G|upstream_gene_variant|MODIFIER|C2orf73|C2orf73|transcript|NM_001100396.1|protein_coding||c.-753A>G|||||711|,G|intergenic_region|MODIFIER|ACYP2-C2orf73|ACYP2-C2orf73|intergenic_region|ACYP2-C2orf73|||n.54330223A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=459;p3_1000G_AF=0.0916534;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=17457;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.0308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54557360;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,16:28:99:438,0,284
chr2	54360459	rs2280718	C	T	338.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.958;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.823;SOR=0.619;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280718;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|C2orf73|C2orf73|transcript|NM_001100396.1|protein_coding|5/5|c.761C>T|p.Pro254Leu|803/1921|761/864|254/287||;p3_1000G_AA=C|||;p3_1000G_AC=3389;p3_1000G_AF=0.676717;p3_1000G_AFR_AF=0.6445;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=17966;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.7903;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54587596;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2605,1197;ESP6500_AA_GTC=897,811,193;ESP6500_CDS_SIZES=NM_001100396.1:864;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=30;ESP6500_EA_AC=6569,1679;ESP6500_EA_GTC=2633,1303,188;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001100396.1:missense;ESP6500_GL=C2orf73;ESP6500_GRCh38_POSITION=2:54360459;ESP6500_GS=98;ESP6500_GTC=3530,2114,381;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001100396.1:c.761C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001100396.1:p.(P254L);ESP6500_MAF=20.3565,31.4834,23.8672;ESP6500_PH=benign:0.385;ESP6500_TAC=9174,2876	GT:AD:DP:GQ:PL	0/1:12,14:26:99:367,0,324
chr2	54612139	rs3796014	A	G	962.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.755;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0.944;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.874;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796014;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|3/35|c.301-22A>G||||||,G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|2/30|c.262-22A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3757;p3_1000G_AF=0.7502;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=21113;p3_1000G_EAS_AF=0.5179;p3_1000G_EUR_AF=0.7495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54839276;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4090,316;ESP6500_AA_AGE=168.0+/-198.9;ESP6500_AA_GTC=1898,294,11;ESP6500_CDS_SIZES=NM_178313.2:6468,NM_003128.2:7095;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=80;ESP6500_EA_AC=6324,2276;ESP6500_EA_AGE=384.1+/-341.0;ESP6500_EA_GTC=2323,1678,299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178313.2:intron,NM_003128.2:intron;ESP6500_GL=SPTBN1;ESP6500_GRCh38_POSITION=2:54612139;ESP6500_GTC=4221,1972,310;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178313.2:c.262-22A>G,NM_003128.2:c.301-22A>G;ESP6500_MAF=26.4651,7.172,19.9293;ESP6500_TAC=10414,2592	GT:AD:DP:GQ:PL	0/1:32,38:70:99:991,0,747
chr2	54617789	rs7569127	T	G	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.656;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-0.619;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7569127;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|6/35|c.647+101T>G||||||,G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|5/30|c.608+101T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1035;p3_1000G_AF=0.206669;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=20864;p3_1000G_EAS_AF=0.0903;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54844926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:139,0,277
chr2	54617980	rs12713273	T	G	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.875;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.8;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12713273;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|6/35|c.648-98T>G||||||,G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|5/30|c.609-98T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1157;p3_1000G_AF=0.23103;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=20048;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.1809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54845117;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,11:24:99:322,0,360
chr2	54621591	rs12713274	A	G	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.276;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=0.115;SOR=0.257;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12713274;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|8/35|c.876+79A>G||||||,G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|7/30|c.837+79A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1505;p3_1000G_AF=0.300519;p3_1000G_AFR_AF=0.5825;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=21642;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.2187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54848728;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,15:20:99:432,0,128
chr2	54628000	rs2971887	T	C	624.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.656;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.03;ReadPosRankSum=1.29;SOR=0.212;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2971887;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|12/35|c.1645-97T>C||||||,C|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|11/30|c.1606-97T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3789;p3_1000G_AF=0.756589;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=16612;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.7515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54855137;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,20:26:99:653,0,145
chr2	54628317	rs17046036	G	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.47;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-1.271;SOR=2.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17046036;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|13/35|c.1798+67G>A||||||,A|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|12/30|c.1759+67G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=580;p3_1000G_AF=0.115815;p3_1000G_AFR_AF=0.1354;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=21322;p3_1000G_EAS_AF=0.0903;p3_1000G_EUR_AF=0.169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54855454;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:337,0,202
chr2	54631527	rs2229503	C	T	973.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.948;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=2.857;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.093;SOR=0.415;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229503;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|16/36|c.3480C>T|p.Asn1160Asn|3729/10221|3480/7095|1160/2364||,T|synonymous_variant|LOW|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|15/31|c.3441C>T|p.Asn1147Asn|3826/9075|3441/6468|1147/2155||;p3_1000G_AA=C|||;p3_1000G_AC=578;p3_1000G_AF=0.115415;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=19822;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54858664;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=573,3833;ESP6500_AA_AGE=257.0+/-261.6;ESP6500_AA_GTC=33,507,1663;ESP6500_CDS_SIZES=NM_178313.2:6468,NM_003128.2:7095;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=100;ESP6500_EA_AC=1594,7006;ESP6500_EA_AGE=297.1+/-303.3;ESP6500_EA_GTC=160,1274,2866;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178313.2:coding-synonymous,NM_003128.2:coding-synonymous;ESP6500_GL=SPTBN1;ESP6500_GRCh38_POSITION=2:54631527;ESP6500_GTC=193,1781,4529;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178313.2:c.3441C>T,NM_003128.2:c.3480C>T;ESP6500_HGVS_PROTEIN_VAR=NM_178313.2:p.(N1147),NM_003128.2:p.(N1160);ESP6500_MAF=18.5349,13.005,16.6615;ESP6500_TAC=2167,10839	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1002,0,1511
chr2	54645489	rs143187214	C	T	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.796;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.494;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143187214;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|21/35|c.4494+36C>T||||||,T|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|20/30|c.4455+36C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=28;p3_1000G_AF=0.00559105;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21181;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54872626;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:155,0,162
chr2	54648939	rs142937034	T	G	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.707;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142937034;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|24/35|c.4998-47T>G||||||,G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|23/30|c.4959-47T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=29;p3_1000G_AF=0.00579073;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22762;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54876076;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:163,0,326
chr2	54650009	rs3739109	A	G	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=1.61;SOR=0.264;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739109;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|26/35|c.5577+20A>G||||||,G|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|25/30|c.5538+20A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=718;p3_1000G_AF=0.143371;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=17493;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54877146;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=546,3858;ESP6500_AA_GTC=37,472,1693;ESP6500_CDS_SIZES=NM_178313.2:6468,NM_003128.2:7095;ESP6500_CG=-7.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=1582,7018;ESP6500_EA_GTC=174,1234,2892;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178313.2:intron,NM_003128.2:intron;ESP6500_GL=SPTBN1;ESP6500_GRCh38_POSITION=2:54650009;ESP6500_GTC=211,1706,4585;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178313.2:c.5538+20A>G,NM_003128.2:c.5577+20A>G;ESP6500_MAF=18.3953,12.3978,16.3642;ESP6500_TAC=2128,10876	GT:AD:DP:GQ:PL	0/1:8,14:22:99:428,0,217
chr2	54655244	rs2271329	G	A	468.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.131;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.675;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.29;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271329;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|28/35|c.5961+36G>A||||||,A|intron_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_178313.2|protein_coding|27/30|c.5922+36G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=689;p3_1000G_AF=0.13758;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=22488;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=54882381;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=601,3805;ESP6500_AA_AGE=264.7+/-266.2;ESP6500_AA_GTC=37,527,1639;ESP6500_CDS_SIZES=NM_178313.2:6468,NM_003128.2:7095;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=1596,7004;ESP6500_EA_AGE=296.7+/-303.1;ESP6500_EA_GTC=158,1280,2862;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178313.2:intron,NM_003128.2:intron;ESP6500_GL=SPTBN1;ESP6500_GRCh38_POSITION=2:54655244;ESP6500_GTC=195,1807,4501;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178313.2:c.5922+36G>A,NM_003128.2:c.5961+36G>A;ESP6500_MAF=18.5581,13.6405,16.8922;ESP6500_TAC=2197,10809	GT:AD:DP:GQ:PL	0/1:16,18:34:99:497,0,451
chr2	54668680	rs201990044	AT	A	75.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.306;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=2.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.41;ReadPosRankSum=1.45;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201990044;dbSNPBuildID=137;ANN=A|3_prime_UTR_variant|MODIFIER|SPTBN1|SPTBN1|transcript|NM_003128.2|protein_coding|36/36|c.*126delT|||||126|INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,6:14:99:113,0,155
chr2	54813289	rs2631840	A	G	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.142;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-0.09;SOR=1.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2631840;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|EML6|EML6|transcript|NM_001039753.2|protein_coding|2/41|c.255A>G|p.Pro85Pro|305/7852|255/5877|85/1958||;p3_1000G_AA=A|||;p3_1000G_AC=3938;p3_1000G_AF=0.786342;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=19480;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.8579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55040426;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,20:50:99:476,0,664
chr2	54843964	rs70944190	T	TTGTGTGTG	347.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.652;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.73;ReadPosRankSum=-0.87;SOR=0.18;INS;HET;VARTYPE=INS;dbSNPBuildID=130;ANN=TTGTGTGTG|intron_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding|6/40|c.848-50_848-43dupTGTGTGTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,8:16:99:385,0,524
chr2	54849924	rs12713278	A	G	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.434;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.448;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12713278;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding|8/40|c.1188-38A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1966;p3_1000G_AF=0.392572;p3_1000G_AFR_AF=0.3994;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=17200;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.508;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55077061;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=571,813;ESP6500_AA_GTC=131,309,252;ESP6500_CDS_SIZES=NM_001039753.2:5877;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=13;ESP6500_EA_AC=1562,1614;ESP6500_EA_GTC=399,764,425;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039753.2:intron;ESP6500_GL=EML6;ESP6500_GRCh38_POSITION=2:54849924;ESP6500_GTC=530,1073,677;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001039753.2:c.1188-38A>G;ESP6500_MAF=49.1814,41.2572,46.7763;ESP6500_TAC=2133,2427	GT:AD:DP:GQ:PL	0/1:6,7:13:99:187,0,184
chr2	54863892	rs2358155	C	T	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.165;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=0.425;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2358155;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|EML6|EML6|transcript|NM_001039753.2|protein_coding|12/40|c.1932+3C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=871;p3_1000G_AF=0.173922;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=16452;p3_1000G_EAS_AF=0.2163;p3_1000G_EUR_AF=0.2674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55091029;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=130,1254;ESP6500_AA_GTC=8,114,570;ESP6500_CDS_SIZES=NM_001039753.2:5877;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=882,2300;ESP6500_EA_GTC=115,652,824;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039753.2:intron;ESP6500_GL=EML6;ESP6500_GRCh38_POSITION=2:54863892;ESP6500_GTC=123,766,1394;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039753.2:c.1932+3C>T;ESP6500_MAF=27.7184,9.3931,22.1638;ESP6500_TAC=1012,3554	GT:AD:DP:GQ:PL	0/1:12,5:17:99:130,0,345
chr2	54866705	rs1961245	G	A	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.475;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1961245;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding|12/40|c.1933-61G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2675;p3_1000G_AF=0.534145;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=17082;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.3827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55093842;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:132,0,109
chr2	54894859	rs2165007	G	C	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.51;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2165007;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding|18/40|c.2743-56G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=211;p3_1000G_AF=0.0421326;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=19633;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.0656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55121996;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:244,0,301
chr2	54954214	rs4671999	T	C	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.84;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=-0.627;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4671999;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding|31/40|c.4486+58T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2537;p3_1000G_AF=0.506589;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=8176;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.7276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55181351;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,4:16:96:96,0,383
chr2	54959092	rs12623902	T	C	430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.29;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.296;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.676;SOR=1.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12623902;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding|32/40|c.4696-12T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2493;p3_1000G_AF=0.497804;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=19102;p3_1000G_EAS_AF=0.6944;p3_1000G_EUR_AF=0.6938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55186229;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=404,980;ESP6500_AA_GTC=61,282,349;ESP6500_CDS_SIZES=NM_001039753.2:5877;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=100;ESP6500_EA_AC=2276,906;ESP6500_EA_GTC=815,646,130;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039753.2:intron;ESP6500_GL=EML6;ESP6500_GRCh38_POSITION=2:54959092;ESP6500_GTC=876,928,479;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039753.2:c.4696-12T>C;ESP6500_MAF=28.4727,29.1908,41.3053;ESP6500_TAC=2680,1886	GT:AD:DP:GQ:PL	0/1:21,15:36:99:459,0,524
chr2	54959257	rs17346629	A	C	500.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.235;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.756;SOR=0.571;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17346629;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|EML6|EML6|transcript|NM_001039753.2|protein_coding|33/41|c.4849A>C|p.Arg1617Arg|4899/7852|4849/5877|1617/1958||;p3_1000G_AA=C|||;p3_1000G_AC=2472;p3_1000G_AF=0.49361;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=19086;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.6928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55186394;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=374,1010;ESP6500_AA_GTC=53,268,371;ESP6500_CDS_SIZES=NM_001039753.2:5877;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=51;ESP6500_EA_AC=2276,906;ESP6500_EA_GTC=815,646,130;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039753.2:coding-synonymous;ESP6500_GL=EML6;ESP6500_GRCh38_POSITION=2:54959257;ESP6500_GTC=868,914,501;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001039753.2:c.4849A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001039753.2:p.(R1617);ESP6500_MAF=28.4727,27.0231,41.9623;ESP6500_TAC=2650,1916	GT:AD:DP:GQ:PL	0/1:27,22:49:99:529,0,672
chr2	54960158	rs35279349	G	A	433.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.881;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=1.14;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35279349;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding|33/40|c.4854-62G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1534;p3_1000G_AF=0.30631;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=16189;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.1879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55187295;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,20:28:99:462,0,201
chr2	54968084	rs13033042	G	A	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.438;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.3;ReadPosRankSum=-0.554;SOR=1.012;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13033042;dbSNPBuildID=121;ANN=A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_020532.4|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_007008.2|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321863.1|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321862.1|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_207521.1|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NR_135830.1|pseudogene||n.*4107C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321861.1|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NR_135829.1|pseudogene||n.*4107C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321860.1|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_153828.2|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_207520.1|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321859.1|protein_coding||c.*5072C>T|||||4107|,A|downstream_gene_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321904.1|protein_coding||c.*5072C>T|||||4107|,A|intron_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding|38/40|c.5598-44G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=132;p3_1000G_AF=0.0263578;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=21022;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.0368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55195220;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=17,1367;ESP6500_AA_GTC=0,17,675;ESP6500_CDS_SIZES=NM_001039753.2:5877;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=60;ESP6500_EA_AC=81,3101;ESP6500_EA_GTC=1,79,1511;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039753.2:intron;ESP6500_GL=EML6;ESP6500_GRCh38_POSITION=2:54968084;ESP6500_GTC=1,96,2186;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039753.2:c.5598-44G>A;ESP6500_MAF=2.5456,1.2283,2.1463;ESP6500_TAC=98,4468	GT:AD:DP:GQ:PL	0/1:20,9:29:99:211,0,572
chr2	54973664	rs2255112	T	G	2907.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2255112;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding||c.*3569T>G|||||1644|,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_020532.4|protein_coding|7/8|c.3478-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_007008.2|protein_coding|5/6|c.499-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321863.1|protein_coding|7/8|c.2860-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321862.1|protein_coding|7/8|c.2860-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207521.1|protein_coding|7/8|c.2860-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135830.1|pseudogene|5/6|n.577-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321861.1|protein_coding|7/8|c.2860-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135829.1|pseudogene|5/6|n.599-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321860.1|protein_coding|7/8|c.2860-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_153828.2|protein_coding|5/6|c.1021-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207520.1|protein_coding|6/7|c.1078-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321859.1|protein_coding|7/8|c.2860-43A>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321904.1|protein_coding|8/9|c.2860-43A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1729;p3_1000G_AF=0.345248;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=21881;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55200800;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2372;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=620,3786;ESP6500_AA_AGE=258.6+/-262.5;ESP6500_AA_GTC=56,508,1639;ESP6500_CDS_SIZES=NM_207521.1:2961,NM_207520.1:1179,NM_153828.2:1122,NM_020532.4:3579,NM_007008.2:600;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=3716,4884;ESP6500_EA_AGE=526.2+/-380.9;ESP6500_EA_GTC=789,2138,1373;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207521.1:intron,NM_207520.1:intron,NM_153828.2:intron,NM_020532.4:intron,NM_007008.2:intron;ESP6500_GL=RTN4;ESP6500_GRCh38_POSITION=2:54973664;ESP6500_GTC=845,2646,3012;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_207521.1:c.2860-43A>C,NM_207520.1:c.1078-43A>C,NM_153828.2:c.1021-43A>C,NM_020532.4:c.3478-43A>C,NM_007008.2:c.499-43A>C;ESP6500_MAF=43.2093,14.0717,33.3385;ESP6500_TAC=4336,8670	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2936,287,0
chr2	54973902	rs2255026	C	T	483.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.46;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2255026;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|EML6|EML6|transcript|NM_001039753.2|protein_coding||c.*3807C>T|||||1882|,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_020532.4|protein_coding|6/8|c.3431-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_007008.2|protein_coding|4/6|c.452-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321863.1|protein_coding|6/8|c.2813-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321862.1|protein_coding|6/8|c.2813-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207521.1|protein_coding|6/8|c.2813-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135830.1|pseudogene|4/6|n.530-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321861.1|protein_coding|6/8|c.2813-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135829.1|pseudogene|4/6|n.552-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321860.1|protein_coding|6/8|c.2813-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_153828.2|protein_coding|4/6|c.974-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207520.1|protein_coding|5/7|c.1031-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321859.1|protein_coding|6/8|c.2813-35G>A||||||,T|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321904.1|protein_coding|7/9|c.2813-35G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4096;p3_1000G_AF=0.817891;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=21385;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55201038;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6493;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4259,147;ESP6500_AA_AGE=97.1+/-135.8;ESP6500_AA_GTC=2059,141,3;ESP6500_CDS_SIZES=NM_207521.1:2961,NM_207520.1:1179,NM_153828.2:1122,NM_020532.4:3579,NM_007008.2:600;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=7181,1419;ESP6500_EA_AGE=270.7+/-289.1;ESP6500_EA_GTC=3001,1179,120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207521.1:intron,NM_207520.1:intron,NM_153828.2:intron,NM_020532.4:intron,NM_007008.2:intron;ESP6500_GL=RTN4;ESP6500_GRCh38_POSITION=2:54973902;ESP6500_GTC=5060,1320,123;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207521.1:c.2813-35G>A,NM_207520.1:c.1031-35G>A,NM_153828.2:c.974-35G>A,NM_020532.4:c.3431-35G>A,NM_007008.2:c.452-35G>A;ESP6500_MAF=16.5,3.3364,12.0406;ESP6500_TAC=11440,1566	GT:AD:DP:GQ:PL	1/1:0,17:17:51:512,51,0
chr2	54987482	rs2580769	A	C	673.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2580769;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|RTN4|RTN4|helix:combinatorial_evidence_used_in_manual_assertion|NM_020532.4|protein_coding|4/8|c.3221+9T>G||||||,C|sequence_feature|LOW|RTN4|RTN4|helix:combinatorial_evidence_used_in_manual_assertion|NM_007008.2|protein_coding|2/6|c.242+9T>G||||||,C|sequence_feature|LOW|RTN4|RTN4|helix:combinatorial_evidence_used_in_manual_assertion|NM_001321863.1|protein_coding|4/8|c.2603+9T>G||||||,C|sequence_feature|LOW|RTN4|RTN4|helix:combinatorial_evidence_used_in_manual_assertion|NM_153828.2|protein_coding|2/6|c.764+9T>G||||||,C|sequence_feature|LOW|RTN4|RTN4|helix:combinatorial_evidence_used_in_manual_assertion|NM_207520.1|protein_coding|3/7|c.821+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_020532.4|protein_coding|4/8|c.3221+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_007008.2|protein_coding|2/6|c.242+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321863.1|protein_coding|4/8|c.2603+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321862.1|protein_coding|4/8|c.2603+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207521.1|protein_coding|4/8|c.2603+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135830.1|pseudogene|2/6|n.320+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321861.1|protein_coding|4/8|c.2603+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135829.1|pseudogene|2/6|n.342+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321860.1|protein_coding|4/8|c.2603+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_153828.2|protein_coding|2/6|c.764+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207520.1|protein_coding|3/7|c.821+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321859.1|protein_coding|4/8|c.2603+9T>G||||||,C|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321904.1|protein_coding|5/9|c.2603+9T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3035;p3_1000G_AF=0.60603;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=20766;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.7555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55214618;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2179,2227;ESP6500_AA_AGE=585.0+/-386.2;ESP6500_AA_GTC=557,1065,581;ESP6500_CDS_SIZES=NM_207521.1:2961,NM_207520.1:1179,NM_153828.2:1122,NM_020532.4:3579,NM_007008.2:600;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=112;ESP6500_EA_AC=6537,2063;ESP6500_EA_AGE=719.0+/-406.2;ESP6500_EA_GTC=2472,1593,235;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207521.1:intron,NM_207520.1:intron,NM_153828.2:intron,NM_020532.4:intron,NM_007008.2:intron;ESP6500_GL=RTN4;ESP6500_GRCh38_POSITION=2:54987482;ESP6500_GTC=3029,2658,816;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_207521.1:c.2603+9T>G,NM_207520.1:c.821+9T>G,NM_153828.2:c.764+9T>G,NM_020532.4:c.3221+9T>G,NM_007008.2:c.242+9T>G;ESP6500_MAF=23.9884,49.4553,32.9848;ESP6500_TAC=8716,4290	GT:AD:DP:GQ:PL	1/1:0,19:19:57:702,57,0
chr2	54987776	rs2580770	C	G	94.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2580770;dbSNPBuildID=100;ANN=G|sequence_feature|LOW|RTN4|RTN4|domain:Reticulon|NM_020532.4|protein_coding|3/8|c.3014-78G>C||||||,G|sequence_feature|LOW|RTN4|RTN4|domain:Reticulon|NM_001321863.1|protein_coding|3/8|c.2396-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_020532.4|protein_coding|3/8|c.3014-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_007008.2|protein_coding|1/6|c.35-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321863.1|protein_coding|3/8|c.2396-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321862.1|protein_coding|3/8|c.2396-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207521.1|protein_coding|3/8|c.2396-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135830.1|pseudogene|1/6|n.113-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321861.1|protein_coding|3/8|c.2396-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135829.1|pseudogene|1/6|n.135-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321860.1|protein_coding|3/8|c.2396-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_153828.2|protein_coding|1/6|c.557-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207520.1|protein_coding|2/7|c.614-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321859.1|protein_coding|3/8|c.2396-78G>C||||||,G|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_001321904.1|protein_coding|4/9|c.2396-78G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4091;p3_1000G_AF=0.816893;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=18370;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55214912;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:122,9,0
chr2	55027029	rs11677099	T	A	1016.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.147;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.778;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11677099;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|RTN4|RTN4|transcript|NM_020532.4|protein_coding|3/9|c.1070A>T|p.Asp357Val|1368/4842|1070/3579|357/1192||,A|missense_variant|MODERATE|RTN4|RTN4|transcript|NM_001321863.1|protein_coding|3/9|c.452A>T|p.Asp151Val|585/4059|452/2961|151/986||,A|missense_variant|MODERATE|RTN4|RTN4|transcript|NM_001321862.1|protein_coding|3/9|c.452A>T|p.Asp151Val|635/4109|452/2961|151/986||,A|missense_variant|MODERATE|RTN4|RTN4|transcript|NM_207521.1|protein_coding|3/9|c.452A>T|p.Asp151Val|626/4100|452/2961|151/986||,A|missense_variant|MODERATE|RTN4|RTN4|transcript|NM_001321861.1|protein_coding|3/9|c.452A>T|p.Asp151Val|648/4122|452/2961|151/986||,A|missense_variant|MODERATE|RTN4|RTN4|transcript|NM_001321860.1|protein_coding|3/9|c.452A>T|p.Asp151Val|685/4159|452/2961|151/986||,A|missense_variant|MODERATE|RTN4|RTN4|transcript|NM_001321859.1|protein_coding|3/9|c.452A>T|p.Asp151Val|615/4089|452/2961|151/986||,A|missense_variant|MODERATE|RTN4|RTN4|transcript|NM_001321904.1|protein_coding|4/10|c.452A>T|p.Asp151Val|1063/4537|452/2961|151/986||,A|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135830.1|pseudogene|1/6|n.112+22050A>T||||||,A|intron_variant|MODIFIER|RTN4|RTN4|transcript|NR_135829.1|pseudogene|1/6|n.134+22529A>T||||||,A|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_153828.2|protein_coding|1/6|c.556+22716A>T||||||,A|intron_variant|MODIFIER|RTN4|RTN4|transcript|NM_207520.1|protein_coding|2/7|c.613+1135A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=124;p3_1000G_AF=0.0247604;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=21251;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55254165;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=20,4386;ESP6500_AA_AGE=27.2+/-55.0;ESP6500_AA_GTC=0,20,2183;ESP6500_CDS_SIZES=NM_207521.1:2961,NM_207520.1:1179,NM_153828.2:1122,NM_020532.4:3579;ESP6500_CG=3.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=118;ESP6500_EA_AC=212,8384;ESP6500_EA_AGE=89.9+/-152.1;ESP6500_EA_GTC=2,208,4088;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207521.1:missense,NM_207520.1:intron,NM_153828.2:intron,NM_020532.4:missense;ESP6500_GL=RTN4;ESP6500_GRCh38_POSITION=2:55027029;ESP6500_GS=152,.,.,152;ESP6500_GTC=2,228,6271;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_207521.1:c.452A>T,NM_207520.1:c.613+1135A>T,NM_153828.2:c.556+22716A>T,NM_020532.4:c.1070A>T;ESP6500_HGVS_PROTEIN_VAR=NM_207521.1:p.(D151V),.,.,NM_020532.4:p.(D357V);ESP6500_MAF=2.4663,0.4539,1.7843;ESP6500_PH=probably-damaging:0.993,.,.,probably-damaging:0.993;ESP6500_TAC=232,12770	GT:AD:DP:GQ:PL	0/1:49,37:86:99:1045,0,1458
chr2	55177658	rs14026	G	A	575.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.706;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.488;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.92;SOR=0.815;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs14026;dbSNPBuildID=52;ANN=A|missense_variant|MODERATE|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding|12/13|c.1508C>T|p.Ala503Val|1854/5346|1508/1761|503/586||,A|missense_variant|MODERATE|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding|10/11|c.1142C>T|p.Ala381Val|1403/4895|1142/1395|381/464||;p3_1000G_AA=A|||;p3_1000G_AC=2350;p3_1000G_AF=0.469249;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=19202;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55404794;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2077,2327;ESP6500_AA_AGE=606.0+/-390.6;ESP6500_AA_GTC=462,1153,587;ESP6500_CDS_SIZES=NM_152385.2:1761,NM_001135598.1:1395;ESP6500_CG=1.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=134;ESP6500_EA_AC=4572,4028;ESP6500_EA_AGE=555.6+/-386.7;ESP6500_EA_GTC=1222,2128,950;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152385.2:missense,NM_001135598.1:missense;ESP6500_GL=CLHC1;ESP6500_GRCh38_POSITION=2:55177658;ESP6500_GS=64,64;ESP6500_GTC=1684,3281,1537;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152385.2:c.1508C>T,NM_001135598.1:c.1142C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152385.2:p.(A503V),NM_001135598.1:p.(A381V);ESP6500_MAF=46.8372,47.1617,48.8696;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=6649,6355	GT:AD:DP:GQ:PL	0/1:25,23:48:99:604,0,631
chr2	55177747	rs13032294	T	C	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.799;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.88;SOR=1.264;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13032294;dbSNPBuildID=121;ANN=C|synonymous_variant|LOW|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding|12/13|c.1419A>G|p.Gln473Gln|1765/5346|1419/1761|473/586||,C|synonymous_variant|LOW|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding|10/11|c.1053A>G|p.Gln351Gln|1314/4895|1053/1395|351/464||;p3_1000G_AA=T|||;p3_1000G_AC=374;p3_1000G_AF=0.0746805;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=18576;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55404883;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=372,4034;ESP6500_AA_AGE=188.1+/-214.6;ESP6500_AA_GTC=18,336,1849;ESP6500_CDS_SIZES=NM_152385.2:1761,NM_001135598.1:1395;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=84;ESP6500_EA_AC=468,8130;ESP6500_EA_AGE=137.1+/-194.1;ESP6500_EA_GTC=17,434,3848;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152385.2:coding-synonymous,NM_001135598.1:coding-synonymous;ESP6500_GL=CLHC1;ESP6500_GRCh38_POSITION=2:55177747;ESP6500_GTC=35,770,5697;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152385.2:c.1419A>G,NM_001135598.1:c.1053A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152385.2:p.(Q473),NM_001135598.1:p.(Q351);ESP6500_MAF=5.4431,8.443,6.4596;ESP6500_TAC=840,12164	GT:AD:DP:GQ:PL	0/1:19,23:42:99:638,0,468
chr2	55180474	rs13003020	T	A	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-2.195;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13003020;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding|11/12|c.1384+36A>T||||||,A|intron_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding|9/10|c.1018+36A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=373;p3_1000G_AF=0.0744808;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=16215;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55407610;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=371,4035;ESP6500_AA_AGE=164.4+/-196.0;ESP6500_AA_GTC=19,333,1851;ESP6500_CDS_SIZES=NM_152385.2:1761,NM_001135598.1:1395;ESP6500_CG=4.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=43;ESP6500_EA_AC=466,8134;ESP6500_EA_AGE=124.8+/-183.5;ESP6500_EA_GTC=17,432,3851;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152385.2:intron,NM_001135598.1:intron;ESP6500_GL=CLHC1;ESP6500_GRCh38_POSITION=2:55180474;ESP6500_GTC=36,765,5702;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_152385.2:c.1384+36A>T,NM_001135598.1:c.1018+36A>T;ESP6500_MAF=5.4186,8.4203,6.4355;ESP6500_TAC=837,12169	GT:AD:DP:GQ:PL	0/1:14,21:35:99:554,0,270
chr2	55180618	rs6716066	C	T	1456.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.56;SOR=0.732;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6716066;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding|11/13|c.1276G>A|p.Val426Ile|1622/5346|1276/1761|426/586||,T|missense_variant|MODERATE|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding|9/11|c.910G>A|p.Val304Ile|1171/4895|910/1395|304/464||;p3_1000G_AA=T|||;p3_1000G_AC=4833;p3_1000G_AF=0.965056;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=17724;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.9692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55407754;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4382,24;ESP6500_AA_AGE=31.7+/-61.6;ESP6500_AA_GTC=2179,24,0;ESP6500_CDS_SIZES=NM_152385.2:1761,NM_001135598.1:1395;ESP6500_CG=3.6;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=117;ESP6500_EA_AC=8401,199;ESP6500_EA_AGE=87.1+/-149.5;ESP6500_EA_GTC=4103,195,2;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152385.2:missense,NM_001135598.1:missense;ESP6500_GL=CLHC1;ESP6500_GRCh38_POSITION=2:55180618;ESP6500_GS=29,29;ESP6500_GTC=6282,219,2;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152385.2:c.1276G>A,NM_001135598.1:c.910G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152385.2:p.(V426I),NM_001135598.1:p.(V304I);ESP6500_MAF=2.314,0.5447,1.7146;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12783,223	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1485,153,0
chr2	55212827	rs2118283	C	A	599.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2118283;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding|4/12|c.366-21G>T||||||,A|intron_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding|2/10|c.-1-21G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4832;p3_1000G_AF=0.964856;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=17621;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.9682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55439963;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4377,27;ESP6500_AA_AGE=34.3+/-65.2;ESP6500_AA_GTC=2175,27,0;ESP6500_CDS_SIZES=NM_152385.2:1761,NM_001135598.1:1395;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=66;ESP6500_EA_AC=8391,205;ESP6500_EA_AGE=87.4+/-149.7;ESP6500_EA_GTC=4096,199,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152385.2:intron,NM_001135598.1:intron;ESP6500_GL=CLHC1;ESP6500_GRCh38_POSITION=2:55212827;ESP6500_GTC=6271,226,3;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152385.2:c.366-21G>T,NM_001135598.1:c.-22G>T;ESP6500_MAF=2.3848,0.6131,1.7846;ESP6500_TAC=12768,232	GT:AD:DP:GQ:PL	1/1:0,19:19:57:628,57,0
chr2	55222182	rs4435493	T	C	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.88;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=-0.545;SOR=1.942;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4435493;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding|3/12|c.177+53A>G||||||,C|intron_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding|1/10|c.-189-4184A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1142;p3_1000G_AF=0.228035;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=19907;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.2087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55449318;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:357,0,256
chr2	55222328	rs17852670	T	C	711.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.124;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.007;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=2.89;SOR=0.927;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17852670;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding|3/13|c.84A>G|p.Gln28Gln|430/5346|84/1761|28/586||,C|intron_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding|1/10|c.-189-4330A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1142;p3_1000G_AF=0.228035;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=17106;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.2107;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55449464;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=656,3748;ESP6500_AA_AGE=281.9+/-276.2;ESP6500_AA_GTC=59,538,1605;ESP6500_CDS_SIZES=NM_152385.2:1761,NM_001135598.1:1395;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=199;ESP6500_EA_AC=1862,6738;ESP6500_EA_AGE=333.7+/-320.7;ESP6500_EA_GTC=206,1450,2644;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152385.2:coding-synonymous,NM_001135598.1:intron;ESP6500_GL=CLHC1;ESP6500_GRCh38_POSITION=2:55222328;ESP6500_GTC=265,1988,4249;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152385.2:c.84A>G,NM_001135598.1:c.-9523A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152385.2:p.(Q28),.;ESP6500_MAF=21.6512,14.8955,19.3633;ESP6500_TAC=2518,10486	GT:AD:DP:GQ:PL	0/1:28,32:60:99:740,0,646
chr2	55233469	rs6737227	A	T	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.32;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.8;ReadPosRankSum=0.768;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6737227;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding||c.-11058T>A|||||1156|,T|upstream_gene_variant|MODIFIER|MIR4426|MIR4426.3|transcript|NR_039624.1.3|pseudogene||n.-695A>T|||||695|,T|upstream_gene_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding||c.-20664T>A|||||906|,T|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding||c.*3179T>A|||||3151|,T|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding||c.*3179T>A|||||3151|,T|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding||c.*3179T>A|||||3151|,T|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding||c.*3179T>A|||||3151|,T|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding||c.*3179T>A|||||3151|,T|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding||c.*3179T>A|||||3151|,T|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding||c.*3179T>A|||||3151|,T|intron_variant|MODIFIER|RPS27A|RPS27A|transcript|NM_001135592.2|protein_coding|3/5|c.103+52A>T||||||,T|intron_variant|MODIFIER|RPS27A|RPS27A|transcript|NM_002954.5|protein_coding|3/5|c.103+52A>T||||||,T|intron_variant|MODIFIER|RPS27A|RPS27A|transcript|NM_001177413.1|protein_coding|2/4|c.103+52A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3549;p3_1000G_AF=0.708666;p3_1000G_AFR_AF=0.7685;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=19600;p3_1000G_EAS_AF=0.6111;p3_1000G_EUR_AF=0.7654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55460605;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,7:31:99:177,0,593
chr2	55234687	rs2576722	T	A	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.171;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.6;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2576722;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_152385.2|protein_coding||c.-12276A>T|||||2374|,A|upstream_gene_variant|MODIFIER|CLHC1|CLHC1|transcript|NM_001135598.1|protein_coding||c.-21882A>T|||||2124|,A|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding||c.*1961A>T|||||1933|,A|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding||c.*1961A>T|||||1933|,A|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding||c.*1961A>T|||||1933|,A|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding||c.*1961A>T|||||1933|,A|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding||c.*1961A>T|||||1933|,A|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding||c.*1961A>T|||||1933|,A|downstream_gene_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding||c.*1961A>T|||||1933|,A|intron_variant|MODIFIER|RPS27A|RPS27A|transcript|NM_001135592.2|protein_coding|4/5|c.190-144T>A||||||,A|intron_variant|MODIFIER|MIR4426|MIR4426.3|transcript|NR_039624.1.3|pseudogene|1/1|n.42-144T>A||||||,A|intron_variant|MODIFIER|RPS27A|RPS27A|transcript|NM_002954.5|protein_coding|4/5|c.190-144T>A||||||,A|intron_variant|MODIFIER|RPS27A|RPS27A|transcript|NM_001177413.1|protein_coding|3/4|c.190-144T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3934;p3_1000G_AF=0.785543;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=21086;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.8469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55461823;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,16:34:99:405,0,516
chr2	55242979	rs11357	C	T	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.242;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.321;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11357;dbSNPBuildID=102;ANN=T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding|14/17|c.1666G>A|p.Val556Ile|2403/2949|1666/2184|556/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding|13/16|c.1666G>A|p.Val556Ile|1938/2484|1666/2184|556/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding|13/16|c.1666G>A|p.Val556Ile|1910/2456|1666/2184|556/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding|14/17|c.1666G>A|p.Val556Ile|2120/2666|1666/2184|556/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding|12/15|c.1666G>A|p.Val556Ile|2172/2718|1666/2184|556/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|12/15|c.937G>A|p.Val313Ile|1821/2367|937/1455|313/484||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding|13/16|c.1666G>A|p.Val556Ile|1982/2528|1666/2184|556/727||;p3_1000G_AA=T|||;p3_1000G_AC=3149;p3_1000G_AF=0.628794;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=21599;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.7942;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55470115;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2286,2120;ESP6500_AA_AGE=576.8+/-384.3;ESP6500_AA_GTC=612,1062,529;ESP6500_CDS_SIZES=NM_002453.2:2184,NM_001005369.1:2184;ESP6500_CG=2.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=101;ESP6500_EA_AC=6689,1907;ESP6500_EA_AGE=338.2+/-322.6;ESP6500_EA_GTC=2613,1463,222;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002453.2:missense,NM_001005369.1:missense;ESP6500_GL=MTIF2;ESP6500_GRCh38_POSITION=2:55242979;ESP6500_GS=29,29;ESP6500_GTC=3225,2525,751;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002453.2:c.1666G>A,NM_001005369.1:c.1666G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002453.2:p.(V556I),NM_001005369.1:p.(V556I);ESP6500_MAF=22.1847,48.1162,30.9722;ESP6500_PH=benign:0.002,benign:0.002;ESP6500_TAC=8975,4027	GT:AD:DP:GQ:PL	0/1:23,28:51:99:670,0,654
chr2	55244246	rs61109509	T	C	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.835;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.447;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61109509;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding|11/16|c.1107-13A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding|10/15|c.1107-13A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding|10/15|c.1107-13A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding|11/16|c.1107-13A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding|9/14|c.1107-13A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|9/14|c.378-13A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding|10/15|c.1107-13A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.1686;p3_1000G_AN=5008;p3_1000G_DP=17772;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55471382;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=266,4122;ESP6500_AA_GTC=9,248,1937;ESP6500_CDS_SIZES=NM_002453.2:2184,NM_001005369.1:2184;ESP6500_CG=0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=30;ESP6500_EA_AC=1048,7546;ESP6500_EA_GTC=59,930,3308;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002453.2:intron,NM_001005369.1:intron;ESP6500_GL=MTIF2;ESP6500_GRCh38_POSITION=2:55244246;ESP6500_GTC=68,1178,5245;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002453.2:c.1107-13A>G,NM_001005369.1:c.1107-13A>G;ESP6500_MAF=12.1946,6.062,10.1217;ESP6500_TAC=1314,11668	GT:AD:DP:GQ:PL	0/1:12,10:22:99:284,0,299
chr2	55244271	rs2589083	T	C	447.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2589083;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding|11/16|c.1107-38A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding|10/15|c.1107-38A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding|10/15|c.1107-38A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding|11/16|c.1107-38A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding|9/14|c.1107-38A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|9/14|c.378-38A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding|10/15|c.1107-38A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4718;p3_1000G_AF=0.942093;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=18203;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55471407;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4065,279;ESP6500_AA_GTC=1904,257,11;ESP6500_CDS_SIZES=NM_002453.2:2184,NM_001005369.1:2184;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=8240,318;ESP6500_EA_GTC=3968,304,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002453.2:intron,NM_001005369.1:intron;ESP6500_GL=MTIF2;ESP6500_GRCh38_POSITION=2:55244271;ESP6500_GTC=5872,561,18;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002453.2:c.1107-38A>G,NM_001005369.1:c.1107-38A>G;ESP6500_MAF=3.7158,6.4227,4.6272;ESP6500_TAC=12305,597	GT:AD:DP:GQ:PL	1/1:0,15:15:45:476,45,0
chr2	55246235	rs2576724	A	G	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.501;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2576724;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding|11/16|c.1106+102T>C||||||,G|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding|10/15|c.1106+102T>C||||||,G|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding|10/15|c.1106+102T>C||||||,G|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding|11/16|c.1106+102T>C||||||,G|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding|9/14|c.1106+102T>C||||||,G|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|9/14|c.377+102T>C||||||,G|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding|10/15|c.1106+102T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1677;p3_1000G_AF=0.334864;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=19131;p3_1000G_EAS_AF=0.5228;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55473371;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:224,0,127
chr2	55246250	rs3833559	CAT	C	319.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.23;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=-0.567;SOR=2.636;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3833559;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding|11/16|c.1106+85_1106+86delAT||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding|10/15|c.1106+85_1106+86delAT||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding|10/15|c.1106+85_1106+86delAT||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding|11/16|c.1106+85_1106+86delAT||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding|9/14|c.1106+85_1106+86delAT||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|9/14|c.377+85_377+86delAT||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding|10/15|c.1106+85_1106+86delAT||||||;p3_1000G_AC=3122;p3_1000G_AF=0.623403;p3_1000G_AFR_AF=0.4251;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=19191;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55473386;p3_1000G_GRCH37_REF=CAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,9:16:99:357,0,299
chr2	55246545	rs2589081	A	C	510.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2589081;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding|10/16|c.982-84T>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding|9/15|c.982-84T>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding|9/15|c.982-84T>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding|10/16|c.982-84T>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding|8/14|c.982-84T>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|8/14|c.253-84T>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding|9/15|c.982-84T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4813;p3_1000G_AF=0.961062;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=20674;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.9543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55473681;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:539,42,0
chr2	55262493	rs2589093	T	C	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.35;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.78;ReadPosRankSum=1.5;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2589093;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding|5/16|c.220-66A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding|4/15|c.220-66A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding|4/15|c.220-66A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding|5/16|c.220-66A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding|3/14|c.220-66A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|4/14|c.-349-66A>G||||||,C|intron_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding|4/15|c.220-66A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3158;p3_1000G_AF=0.630591;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=15775;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55489629;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:226,0,133
chr2	55263683	rs1056445	G	T	709.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.438;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=3.224;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.55;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056445;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001005369.1|protein_coding|5/17|c.176C>A|p.Thr59Asn|913/2949|176/2184|59/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321001.1|protein_coding|4/16|c.176C>A|p.Thr59Asn|448/2484|176/2184|59/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321002.1|protein_coding|4/16|c.176C>A|p.Thr59Asn|420/2456|176/2184|59/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321003.1|protein_coding|5/17|c.176C>A|p.Thr59Asn|630/2666|176/2184|59/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_001321004.1|protein_coding|3/15|c.176C>A|p.Thr59Asn|682/2718|176/2184|59/727||,T|missense_variant|MODERATE|MTIF2|MTIF2|transcript|NM_002453.2|protein_coding|4/16|c.176C>A|p.Thr59Asn|492/2528|176/2184|59/727||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|4/15|c.-393C>A||||||,T|5_prime_UTR_variant|MODIFIER|MTIF2|MTIF2|transcript|NM_001321005.1|protein_coding|4/15|c.-393C>A|||||11095|;p3_1000G_AA=G|||;p3_1000G_AC=3151;p3_1000G_AF=0.629193;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=17374;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.7922;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55490819;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2270,2136;ESP6500_AA_AGE=597.7+/-388.9;ESP6500_AA_GTC=600,1070,533;ESP6500_CDS_SIZES=NM_002453.2:2184,NM_001005369.1:2184;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=104;ESP6500_EA_AC=6681,1919;ESP6500_EA_AGE=726.7+/-406.6;ESP6500_EA_GTC=2610,1461,229;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002453.2:missense,NM_001005369.1:missense;ESP6500_GL=MTIF2;ESP6500_GRCh38_POSITION=2:55263683;ESP6500_GS=65,65;ESP6500_GTC=3210,2531,762;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002453.2:c.176C>A,NM_001005369.1:c.176C>A;ESP6500_HGVS_PROTEIN_VAR=NM_002453.2:p.(T59N),NM_001005369.1:p.(T59N);ESP6500_MAF=22.314,48.4793,31.1779;ESP6500_PH=benign:0.028,benign:0.028;ESP6500_TAC=8951,4055	GT:AD:DP:GQ:PL	0/1:13,27:40:99:738,0,324
chr2	55291606	rs2249856	T	C	240.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2249856;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|32/32|c.*35+70A>G||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|33/33|c.*35+70A>G||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|31/31|c.*35+70A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3939;p3_1000G_AF=0.786542;p3_1000G_AFR_AF=0.4274;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=18059;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55518742;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:269,24,0
chr2	55295286	rs2589110	A	G	1554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2589110;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|31/32|c.5548+311T>C||||||,G|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|32/33|c.5326+311T>C||||||,G|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|30/31|c.5467+311T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4553;p3_1000G_AF=0.909145;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=20128;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55522422;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8098;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1583,144,0
chr2	55296173	rs2028140;rs530927730;rs569216742	C	A	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.15;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28665443;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|30/32|c.5088+85G>T||||||,A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|30/33|c.5088+85G>T||||||,A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|29/31|c.5007+85G>T||||||;p3_1000G_AC=4491;p3_1000G_AF=0.896765;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=17507;p3_1000G_EAS_AF=0.9772;p3_1000G_EUR_AF=0.9503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55523309;p3_1000G_GRCH37_REF=CA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0
chr2	55299972	rs1545121	G	A	483.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1545121;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|28/32|c.4742-53C>T||||||,A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|28/33|c.4742-53C>T||||||,A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|27/31|c.4661-53C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3746;p3_1000G_AF=0.748003;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=20260;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.9066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55527108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=673,711;ESP6500_AA_GTC=171,331,190;ESP6500_CDS_SIZES=NM_018084.4:5532,NM_001254943.1:5391,NM_001135597.1:5613;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=73;ESP6500_EA_AC=2939,243;ESP6500_EA_GTC=1355,229,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018084.4:intron,NM_001254943.1:intron,NM_001135597.1:intron;ESP6500_GL=CCDC88A;ESP6500_GRCh38_POSITION=2:55299972;ESP6500_GTC=1526,560,197;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018084.4:c.4661-53C>T,NM_001254943.1:c.4742-53C>T,NM_001135597.1:c.4742-53C>T;ESP6500_MAF=7.6367,48.6272,20.8936;ESP6500_TAC=3612,954	GT:AD:DP:GQ:PL	1/1:0,15:15:45:512,45,0
chr2	55301121	rs2576699	A	C	298.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.16;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2576699;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|28/32|c.4741+85T>G||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|28/33|c.4741+85T>G||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|27/31|c.4660+85T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4316;p3_1000G_AF=0.861821;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=14886;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.9503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55528257;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:327,33,0
chr2	55332515	rs368125112	CA	C	38.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.309;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=0.091;SOR=0.582;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs368125112;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|16/32|c.2855+50delT||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|16/33|c.2855+50delT||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|16/31|c.2855+50delT||||||	GT:AD:DP:GQ:PL	0/1:11,5:16:76:76,0,236
chr2	55339395	rs12621734	A	C	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.38;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12621734;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|13/32|c.1518+69T>G||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|13/33|c.1518+69T>G||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|13/31|c.1518+69T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.3759;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=18329;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55566531;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:53:74,0,53
chr2	55339402	rs66706508;rs71821845	CTATT	C	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=1.38;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71821845,rs66706508;dbSNPBuildID=131,130;ANN=C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|13/32|c.1518+58_1518+61delAATA||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|13/33|c.1518+58_1518+61delAATA||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|13/31|c.1518+58_1518+61delAATA||||||;p3_1000G_AC=1634;p3_1000G_AF=0.326278;p3_1000G_AFR_AF=0.3759;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=18740;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.2187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55566538;p3_1000G_GRCH37_REF=CTATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120
chr2	55349498	rs2589090	C	T	1254.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.28;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2589090;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|9/32|c.882+20G>A||||||,T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|9/33|c.882+20G>A||||||,T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|9/31|c.882+20G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2823;p3_1000G_AF=0.563698;p3_1000G_AFR_AF=0.6619;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=18082;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.3579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55576634;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2672,1732;ESP6500_AA_AGE=516.0+/-369.1;ESP6500_AA_GTC=815,1042,345;ESP6500_CDS_SIZES=NM_018084.4:5532,NM_001254943.1:5391,NM_001135597.1:5613;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=127;ESP6500_EA_AC=3665,4933;ESP6500_EA_AGE=621.5+/-397.2;ESP6500_EA_GTC=776,2113,1410;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018084.4:intron,NM_001254943.1:intron,NM_001135597.1:intron;ESP6500_GL=CCDC88A;ESP6500_GRCh38_POSITION=2:55349498;ESP6500_GTC=1591,3155,1755;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018084.4:c.882+20G>A,NM_001254943.1:c.882+20G>A,NM_001135597.1:c.882+20G>A;ESP6500_MAF=42.6262,39.3279,48.7387;ESP6500_TAC=6337,6665	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1283,138,0
chr2	55349734	rs2589089;rs34581861;rs535165575	T	G	15.65	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.65;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2589089;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|8/32|c.801-135A>C||||||,G|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|8/33|c.801-135A>C||||||,G|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|8/31|c.801-135A>C||||||;p3_1000G_AC=660;p3_1000G_AF=0.131789;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=15467;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55576870;p3_1000G_GRCH37_REF=TA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,1:1:3:42,3,0
chr2	55355465	rs5831355	T	TTTGACACA	224.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5831355;dbSNPBuildID=135;ANN=TTTGACACA|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|8/32|c.800+113_800+114insTGTGTCAA||||||,TTTGACACA|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|8/33|c.800+113_800+114insTGTGTCAA||||||,TTTGACACA|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|8/31|c.800+113_800+114insTGTGTCAA||||||;p3_1000G_AC=2804;p3_1000G_AF=0.559904;p3_1000G_AFR_AF=0.6604;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=18513;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55582601;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:18:262,18,0
chr2	55355499	rs2589104	T	C	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=0.555;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2589104;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|8/32|c.800+80A>G||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|8/33|c.800+80A>G||||||,C|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|8/31|c.800+80A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=718;p3_1000G_AF=0.143371;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=18668;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55582635;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:221,0,188
chr2	55355548	rs1437394	A	T	944.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1437394;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|8/32|c.800+31T>A||||||,T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|8/33|c.800+31T>A||||||,T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|8/31|c.800+31T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2407;p3_1000G_AF=0.480631;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=19324;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.3529;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55582684;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1733,2673;ESP6500_AA_AGE=511.1+/-367.7;ESP6500_AA_GTC=343,1047,813;ESP6500_CDS_SIZES=NM_018084.4:5532,NM_001254943.1:5391,NM_001135597.1:5613;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=86;ESP6500_EA_AC=3636,4964;ESP6500_EA_AGE=516.9+/-378.9;ESP6500_EA_GTC=761,2114,1425;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018084.4:intron,NM_001254943.1:intron,NM_001135597.1:intron;ESP6500_GL=CCDC88A;ESP6500_GRCh38_POSITION=2:55355548;ESP6500_GTC=1104,3161,2238;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_018084.4:c.800+31T>A,NM_001254943.1:c.800+31T>A,NM_001135597.1:c.800+31T>A;ESP6500_MAF=42.2791,39.3327,41.2809;ESP6500_TAC=5369,7637	GT:AD:DP:GQ:PL	1/1:0,30:30:90:973,90,0
chr2	55362228	rs13019339	G	A	65.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13019339;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|7/32|c.627+80C>T||||||,A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|7/33|c.627+80C>T||||||,A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|7/31|c.627+80C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1601;p3_1000G_AF=0.319688;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=17485;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.2197;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55589364;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:25:94,0,25
chr2	55362298	rs3111412	T	A	900.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3111412;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|7/32|c.627+10A>T||||||,A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|7/33|c.627+10A>T||||||,A|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|7/31|c.627+10A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=16994;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.337;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55589434;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2534,1868;ESP6500_AA_GTC=747,1040,414;ESP6500_CDS_SIZES=NM_018084.4:5532,NM_001254943.1:5391,NM_001135597.1:5613;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=64;ESP6500_EA_AC=3484,5108;ESP6500_EA_GTC=724,2036,1536;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018084.4:intron,NM_001254943.1:intron,NM_001135597.1:intron;ESP6500_GL=CCDC88A;ESP6500_GRCh38_POSITION=2:55362298;ESP6500_GTC=1471,3076,1950;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_018084.4:c.627+10A>T,NM_001254943.1:c.627+10A>T,NM_001135597.1:c.627+10A>T;ESP6500_MAF=40.5493,42.4353,46.3137;ESP6500_TAC=6018,6976	GT:AD:DP:GQ:PL	1/1:0,30:30:90:929,90,0
chr2	55372674	rs10496042	C	T	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.05;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=1.32;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10496042;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|4/32|c.344-164G>A||||||,T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|4/33|c.344-164G>A||||||,T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|4/31|c.344-164G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1614;p3_1000G_AF=0.322284;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=19789;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.2207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55599810;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:279,0,164
chr2	55374665	rs199651029	C	T	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.18;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199651029;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001135597.1|protein_coding|4/32|c.343+149G>A||||||,T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_001254943.1|protein_coding|4/33|c.343+149G>A||||||,T|intron_variant|MODIFIER|CCDC88A|CCDC88A|transcript|NM_018084.4|protein_coding|4/31|c.343+149G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15956;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55601801;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:91:91,0,147
chr2	55533804	rs4671248	G	T	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.751;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4671248;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CFAP36|CFAP36|transcript|NM_001282761.1|protein_coding|5/10|c.473-69G>T||||||,T|intron_variant|MODIFIER|CFAP36|CFAP36|transcript|NM_080667.6|protein_coding|4/9|c.398-69G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3421;p3_1000G_AF=0.683107;p3_1000G_AFR_AF=0.5976;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=11935;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.9046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55760940;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:139,0,130
chr2	55543914	rs3816489	C	G	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.604;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-1.572;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816489;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|PPP4R3B|PPP4R3B|transcript|NM_001122964.2|protein_coding||c.*5997G>C|||||3378|,G|downstream_gene_variant|MODIFIER|PPP4R3B|PPP4R3B|transcript|NM_001282850.1|protein_coding||c.*5997G>C|||||3378|,G|downstream_gene_variant|MODIFIER|PPP4R3B|PPP4R3B|transcript|NM_020463.3|protein_coding||c.*5997G>C|||||3378|,G|intron_variant|MODIFIER|CFAP36|CFAP36|transcript|NM_001282761.1|protein_coding|8/10|c.716-24C>G||||||,G|intron_variant|MODIFIER|CFAP36|CFAP36|transcript|NM_080667.6|protein_coding|7/9|c.641-24C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3034;p3_1000G_AF=0.605831;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=21965;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.7813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55771050;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2604,1798;ESP6500_AA_AGE=478.5+/-358.2;ESP6500_AA_GTC=788,1028,385;ESP6500_CDS_SIZES=NM_080667.5:1029;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=81;ESP6500_EA_AC=6621,1973;ESP6500_EA_AGE=330.3+/-319.2;ESP6500_EA_GTC=2554,1513,230;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080667.5:intron;ESP6500_GL=CCDC104;ESP6500_GRCh38_POSITION=2:55543914;ESP6500_GTC=3342,2541,615;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_080667.5:c.641-24C>G;ESP6500_MAF=22.9579,40.8451,29.0166;ESP6500_TAC=9225,3771	GT:AD:DP:GQ:PL	0/1:13,17:30:99:488,0,429
chr2	55544025	rs1045910	A	G	566.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.764;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.405;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1045910;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|CFAP36|CFAP36|transcript|NM_001282761.1|protein_coding|9/11|c.803A>G|p.Asp268Gly|1010/1383|803/1104|268/367||,G|missense_variant|MODERATE|CFAP36|CFAP36|transcript|NM_080667.6|protein_coding|8/10|c.728A>G|p.Asp243Gly|935/1308|728/1029|243/342||,G|downstream_gene_variant|MODIFIER|PPP4R3B|PPP4R3B|transcript|NM_001122964.2|protein_coding||c.*5886T>C|||||3267|,G|downstream_gene_variant|MODIFIER|PPP4R3B|PPP4R3B|transcript|NM_001282850.1|protein_coding||c.*5886T>C|||||3267|,G|downstream_gene_variant|MODIFIER|PPP4R3B|PPP4R3B|transcript|NM_020463.3|protein_coding||c.*5886T>C|||||3267|;p3_1000G_AA=G|||;p3_1000G_AC=4138;p3_1000G_AF=0.826278;p3_1000G_AFR_AF=0.9849;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=5872;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.9414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55771161;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7975;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4291,115;ESP6500_AA_AGE=80.9+/-119.3;ESP6500_AA_GTC=2092,107,4;ESP6500_CDS_SIZES=NM_080667.5:1029;ESP6500_CG=2.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=90;ESP6500_EA_AC=8113,487;ESP6500_EA_AGE=140.1+/-196.7;ESP6500_EA_GTC=3826,461,13;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080667.5:missense;ESP6500_GL=CCDC104;ESP6500_GRCh38_POSITION=2:55544025;ESP6500_GS=94;ESP6500_GTC=5918,568,17;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080667.5:c.728A>G;ESP6500_HGVS_PROTEIN_VAR=NM_080667.5:p.(D243G);ESP6500_MAF=5.6628,2.6101,4.6286;ESP6500_PH=benign:0.0;ESP6500_TAC=12404,602	GT:AD:DP:GQ:PL	0/1:20,22:42:99:595,0,530
chr2	55578304	rs2903704	T	C	383.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.58;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2903704;dbSNPBuildID=101;ANN=C|missense_variant|MODERATE|PPP4R3B|PPP4R3B|transcript|NM_001122964.2|protein_coding|10/17|c.1507A>G|p.Ile503Val|1947/5609|1507/2550|503/849||,C|intron_variant|MODIFIER|PPP4R3B|PPP4R3B|transcript|NM_001282850.1|protein_coding|9/15|c.1469-948A>G||||||,C|intron_variant|MODIFIER|PPP4R3B|PPP4R3B|transcript|NM_020463.3|protein_coding|9/14|c.1469-948A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=4965;p3_1000G_AF=0.991414;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=15508;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55805440;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:412,45,0
chr2	55661927	rs782604	G	A	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.792;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs782604;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PNPT1|PNPT1|transcript|NM_033109.4|protein_coding|14/27|c.1247+29C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4142;p3_1000G_AF=0.827077;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DP=16033;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.9404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55889062;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4148,184;ESP6500_AA_GTC=1988,172,6;ESP6500_CDS_SIZES=NM_033109.3:2352;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=22;ESP6500_EA_AC=8001,475;ESP6500_EA_GTC=3778,445,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033109.3:intron;ESP6500_GL=PNPT1;ESP6500_GRCh38_POSITION=2:55661927;ESP6500_GTC=5766,617,21;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033109.3:c.1247+29C>T;ESP6500_MAF=5.6041,4.2475,5.1452;ESP6500_TAC=12149,659	GT:AD:DP:GQ:PL	0/1:3,4:7:63:100,0,63
chr2	55666955	rs13009649	A	G	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.479;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-0.454;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13009649;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|PNPT1|PNPT1|transcript|NM_033109.4|protein_coding|13/27|c.1176+36T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=650;p3_1000G_AF=0.129792;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=17713;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.1332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55894090;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=200,4202;ESP6500_AA_GTC=5,190,2006;ESP6500_CDS_SIZES=NM_033109.3:2352;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=37;ESP6500_EA_AC=1223,7365;ESP6500_EA_GTC=99,1025,3170;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033109.3:intron;ESP6500_GL=PNPT1;ESP6500_GRCh38_POSITION=2:55666955;ESP6500_GTC=104,1215,5176;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033109.3:c.1176+36T>C;ESP6500_MAF=14.2408,4.5434,10.9546;ESP6500_TAC=1423,11567	GT:AD:DP:GQ:PL	0/1:14,8:22:99:202,0,414
chr2	55672093	rs782631	A	T	58.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.674;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs782631;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PNPT1|PNPT1|transcript|NM_033109.4|protein_coding|9/27|c.867-47T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4148;p3_1000G_AF=0.828275;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DP=15211;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.9404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=55899228;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4231,171;ESP6500_AA_AGE=106.0+/-144.5;ESP6500_AA_GTC=2035,161,5;ESP6500_CDS_SIZES=NM_033109.3:2352;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=50;ESP6500_EA_AC=8111,477;ESP6500_EA_AGE=138.6+/-195.4;ESP6500_EA_GTC=3831,449,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033109.3:intron;ESP6500_GL=PNPT1;ESP6500_GRCh38_POSITION=2:55672093;ESP6500_GTC=5866,610,19;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_033109.3:c.867-47T>A;ESP6500_MAF=5.5543,3.8846,4.9885;ESP6500_TAC=12342,648	GT:AD:DP:GQ:PL	0/1:2,3:5:65:87,0,65
chr2	56184682	rs35587531	C	T	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.83;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=1.45;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35587531;dbSNPBuildID=126;ANN=T|missense_variant|MODERATE|CCDC85A|CCDC85A|transcript|NM_001080433.1|protein_coding|1/6|c.58C>T|p.Pro20Ser|560/3983|58/1662|20/553||,T|intron_variant|MODIFIER|LOC100129434|LOC100129434|transcript|NR_125368.1|pseudogene|1/2|n.73+1016G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3574;p3_1000G_AF=0.713658;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=6862;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=56411817;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,12:18:99:327,0,115
chr2	56384154	rs74952861	G	T	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.936;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.04;SOR=0.074;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74952861;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|CCDC85A|CCDC85A|transcript|NM_001080433.1|protein_coding|5/5|c.1573-112G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=29;p3_1000G_AF=0.00579073;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20149;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=56611289;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:198,0,334
chr2	56384408	rs145759524;rs34920355;rs77072758;~rs71932260	C	CAAG	281.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.414;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.61;ReadPosRankSum=-0.577;SOR=0.991;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34920355,rs77072758,rs145759524;dbSNPBuildID=131,126,137;ANN=CAAG|3_prime_UTR_variant|MODIFIER|CCDC85A|CCDC85A|transcript|NM_001080433.1|protein_coding|6/6|c.*59_*61dupGAA|||||62|INFO_REALIGN_3_PRIME;p3_1000G_AC=1904;p3_1000G_AF=0.380192;p3_1000G_AFR_AF=0.7126;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=19530;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.3042;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=56611543;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=INDEL;ESP6500_AA_AC=2436,1266;ESP6500_AA_GTC=835,766,250;ESP6500_CDS_SIZES=NM_001080433.1:1662;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=55;ESP6500_EA_AC=2291,5599;ESP6500_EA_GTC=346,1599,2000;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080433.1:utr-3;ESP6500_GL=CCDC85A;ESP6500_GRCh38_POSITION=2:56384408;ESP6500_GTC=1181,2365,2250;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080433.1:c.*53_*54insAAG;ESP6500_MAF=29.0368,34.1977,40.7781;ESP6500_TAC=4727,6865	GT:AD:DP:GQ:PL	0/1:3,8:11:99:319,0,108
chr2	58048531	rs986512	G	A	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.949;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=4.709;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.834;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs986512;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130480.2|protein_coding|1/12|c.-5-296G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288837.1|protein_coding|4/15|c.-5-296G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288838.1|protein_coding|3/15|c.-5-296G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130482.2|protein_coding|1/12|c.-20-350G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130483.2|protein_coding|1/13|c.-5-296G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288836.1|protein_coding|1/13|c.-496-296G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288839.1|protein_coding|1/11|c.-289-296G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_006296.6|protein_coding|1/12|c.-5-296G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130481.2|protein_coding|1/12|c.-5-296G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3457;p3_1000G_AF=0.690296;p3_1000G_AFR_AF=0.9138;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=20093;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.6421;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58275666;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,18:42:99:415,0,649
chr2	58089679	rs1051061	A	G	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.31;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.093;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.092;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1051061;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_001130480.2|protein_coding|7/13|c.499A>G|p.Ile167Val|684/1939|499/1527|167/508||,G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_001288837.1|protein_coding|10/16|c.499A>G|p.Ile167Val|1244/2499|499/1527|167/508||,G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_001288838.1|protein_coding|9/16|c.499A>G|p.Ile167Val|1126/2430|499/1191|167/396||,G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_001130482.2|protein_coding|7/13|c.430A>G|p.Ile144Val|630/1885|430/1458|144/485||,G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_001130483.2|protein_coding|7/14|c.499A>G|p.Ile167Val|684/1988|499/1191|167/396||,G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_001288836.1|protein_coding|8/14|c.145A>G|p.Ile49Val|821/2076|145/1173|49/390||,G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_001288839.1|protein_coding|6/12|c.145A>G|p.Ile49Val|661/1916|145/1173|49/390||,G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_006296.6|protein_coding|7/13|c.499A>G|p.Ile167Val|731/1986|499/1527|167/508||,G|missense_variant|MODERATE|VRK2|VRK2|transcript|NM_001130481.2|protein_coding|7/13|c.499A>G|p.Ile167Val|526/1781|499/1527|167/508||;p3_1000G_AA=A|||;p3_1000G_AC=1512;p3_1000G_AF=0.301917;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=18572;p3_1000G_EAS_AF=0.4117;p3_1000G_EUR_AF=0.3966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58316814;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=469,3937;ESP6500_AA_AGE=220.7+/-238.1;ESP6500_AA_GTC=42,385,1776;ESP6500_CDS_SIZES=NM_006296.6:1527,NM_001130483.2:1191,NM_001130482.2:1458,NM_001130481.2:1527,NM_001130480.2:1527;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=81;ESP6500_EA_AC=3473,5113;ESP6500_EA_AGE=505.6+/-376.4;ESP6500_EA_GTC=708,2057,1528;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006296.6:missense,NM_001130483.2:missense,NM_001130482.2:missense,NM_001130481.2:missense,NM_001130480.2:missense;ESP6500_GL=VRK2;ESP6500_GRCh38_POSITION=2:58089679;ESP6500_GS=29,29,29,29,29;ESP6500_GTC=750,2442,3304;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006296.6:c.499A>G,NM_001130483.2:c.499A>G,NM_001130482.2:c.430A>G,NM_001130481.2:c.499A>G,NM_001130480.2:c.499A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006296.6:p.(I167V),NM_001130483.2:p.(I167V),NM_001130482.2:p.(I144V),NM_001130481.2:p.(I167V),NM_001130480.2:p.(I167V);ESP6500_MAF=40.4496,10.6446,30.3417;ESP6500_PH=probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997;ESP6500_TAC=3942,9050	GT:AD:DP:GQ:PL	0/1:17,17:34:99:409,0,404
chr2	58123369	rs7558007	A	G	147.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7558007;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130480.2|protein_coding|8/12|c.676+136A>G||||||,G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288837.1|protein_coding|11/15|c.676+136A>G||||||,G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288838.1|protein_coding|10/15|c.676+136A>G||||||,G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130482.2|protein_coding|8/12|c.607+136A>G||||||,G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130483.2|protein_coding|8/13|c.676+136A>G||||||,G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288836.1|protein_coding|9/13|c.322+136A>G||||||,G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288839.1|protein_coding|7/11|c.322+136A>G||||||,G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_006296.6|protein_coding|8/12|c.676+136A>G||||||,G|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130481.2|protein_coding|8/12|c.676+136A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4818;p3_1000G_AF=0.962061;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=18577;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58350504;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9376;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:176,15,0
chr2	58135026	rs11678320	G	A	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.62;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.221;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11678320;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130480.2|protein_coding|9/12|c.798-115G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288837.1|protein_coding|12/15|c.798-115G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288838.1|protein_coding|11/15|c.798-115G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130482.2|protein_coding|9/12|c.729-115G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130483.2|protein_coding|9/13|c.798-115G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288836.1|protein_coding|10/13|c.444-115G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288839.1|protein_coding|8/11|c.444-115G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_006296.6|protein_coding|9/12|c.798-115G>A||||||,A|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130481.2|protein_coding|9/12|c.798-115G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1474;p3_1000G_AF=0.294329;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=18855;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.3867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58362161;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:159,0,289
chr2	58154650	rs848294	T	C	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.959;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=-1.305;SOR=0.058;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848294;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|FANCL|FANCL|transcript|NM_001114636.1|protein_coding||c.*5115A>G|||||4593|,C|downstream_gene_variant|MODIFIER|FANCL|FANCL|transcript|NM_018062.3|protein_coding||c.*5115A>G|||||4593|,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130480.2|protein_coding|12/12|c.1183-4699T>C||||||,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288837.1|protein_coding|15/15|c.1183-4699T>C||||||,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288838.1|protein_coding|14/15|c.1183-104T>C||||||,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130482.2|protein_coding|12/12|c.1114-4699T>C||||||,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130483.2|protein_coding|12/13|c.1183-104T>C||||||,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288836.1|protein_coding|13/13|c.829-4699T>C||||||,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288839.1|protein_coding|11/11|c.829-4699T>C||||||,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_006296.6|protein_coding|12/12|c.1183-4699T>C||||||,C|intron_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130481.2|protein_coding|12/12|c.1183-4699T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1304;p3_1000G_AF=0.260383;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=15249;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58381785;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,14:22:99:452,0,233
chr2	58161561	rs848291;257495	A	G	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.07;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.962;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848291;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|FANCL|FANCL|transcript|NM_001114636.1|protein_coding|12/14|c.996T>C|p.Ser332Ser|1063/1732|996/1143|332/380||,G|synonymous_variant|LOW|FANCL|FANCL|transcript|NM_018062.3|protein_coding|12/14|c.981T>C|p.Ser327Ser|1048/1717|981/1128|327/375||,G|sequence_feature|LOW|FANCL|FANCL|turn:combinatorial_evidence_used_in_manual_assertion|NM_001114636.1|protein_coding|12/14|c.996T>C||||||,G|sequence_feature|LOW|FANCL|FANCL|turn:combinatorial_evidence_used_in_manual_assertion|NM_018062.3|protein_coding|12/14|c.981T>C||||||,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130480.2|protein_coding||c.*1868A>G|||||1641|,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288837.1|protein_coding||c.*1868A>G|||||1641|,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288838.1|protein_coding||c.*6799A>G|||||1641|,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130482.2|protein_coding||c.*1868A>G|||||1641|,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130483.2|protein_coding||c.*6799A>G|||||1641|,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288836.1|protein_coding||c.*1868A>G|||||1641|,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_001288839.1|protein_coding||c.*1868A>G|||||1641|,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_006296.6|protein_coding||c.*1868A>G|||||1641|,G|downstream_gene_variant|MODIFIER|VRK2|VRK2|transcript|NM_001130481.2|protein_coding||c.*1868A>G|||||1641|;p3_1000G_AA=G|||;p3_1000G_AC=3538;p3_1000G_AF=0.70647;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=19414;p3_1000G_EAS_AF=0.5883;p3_1000G_EUR_AF=0.6173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58388696;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3966,438;ESP6500_AA_AGE=207.5+/-228.8;ESP6500_AA_GTC=1797,372,33;ESP6500_CDS_SIZES=NM_018062.3:1128,NM_001114636.1:1143;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=101;ESP6500_EA_AC=5190,3410;ESP6500_EA_AGE=501.6+/-375.5;ESP6500_EA_GTC=1567,2056,677;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018062.3:coding-synonymous,NM_001114636.1:coding-synonymous;ESP6500_GL=FANCL;ESP6500_GRCh38_POSITION=2:58161561;ESP6500_GTC=3364,2428,710;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018062.3:c.981T>C,NM_001114636.1:c.996T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018062.3:p.(S327),NM_001114636.1:p.(S332);ESP6500_MAF=39.6512,9.9455,29.5909;ESP6500_TAC=9156,3848;CLINVAR_ALLELEID=250750;CLINVAR_CLNDISDB=MedGen:C0015625,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374;CLINVAR_CLNDN=Fanconi_anemia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.58161561A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:28865|Illumina_Clinical_Services_Laboratory,Illumina:24918;CLINVAR_GENEINFO=VRK2:7444|FANCL:55120;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=848291	GT:AD:DP:GQ:PL	0/1:34,26:60:99:654,0,811
chr2	58165654	rs848288	T	C	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.816;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs848288;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|FANCL|FANCL|transcript|NM_001114636.1|protein_coding|8/13|c.706+70A>G||||||,C|intron_variant|MODIFIER|FANCL|FANCL|transcript|NM_018062.3|protein_coding|8/13|c.691+70A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1386;p3_1000G_AF=0.276757;p3_1000G_AFR_AF=0.1104;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=17126;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.3469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58392789;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:142,0,126
chr2	58165662	rs148383677;rs370127908	TTTA	T	148.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.589;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=-1.754;SOR=0.892;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs370127908,rs148383677;dbSNPBuildID=134,138;ANN=T|intron_variant|MODIFIER|FANCL|FANCL|transcript|NM_001114636.1|protein_coding|8/13|c.706+59_706+61delTAA||||||,T|intron_variant|MODIFIER|FANCL|FANCL|transcript|NM_018062.3|protein_coding|8/13|c.691+59_691+61delTAA||||||;p3_1000G_AC=1264;p3_1000G_AF=0.252396;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=17252;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.3469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58392797;p3_1000G_GRCH37_REF=TTTA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,5:9:99:186,0,194
chr2	58194366	rs72618693	T	C	590.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.892;SOR=0.791;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72618693;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|FANCL|FANCL|transcript|NM_001114636.1|protein_coding|7/13|c.555+4213A>G||||||,C|intron_variant|MODIFIER|FANCL|FANCL|transcript|NM_018062.3|protein_coding|7/13|c.540+4228A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=66;p3_1000G_AF=0.0131789;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=21195;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58421501;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,20:42:99:619,0,603
chr2	58226708	rs372101290	G	GA	88.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.2;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.003;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=-0.317;SOR=0.669;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GA|intron_variant|MODIFIER|FANCL|FANCL|transcript|NM_001114636.1|protein_coding|4/13|c.273+19dupT||||||,GA|intron_variant|MODIFIER|FANCL|FANCL|transcript|NM_018062.3|protein_coding|4/13|c.273+19dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1300;p3_1000G_AF=0.259585;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=18330;p3_1000G_EAS_AF=0.2827;p3_1000G_EUR_AF=0.334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=58453843;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:11,7:18:99:126,0,238
chr2	60452807	rs17331129	T	C	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.977;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.309;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=-0.313;SOR=0.452;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17331129;dbSNPBuildID=123;ANN=C|downstream_gene_variant|MODIFIER|BCL11A|BCL11A|transcript|NM_022893.3|protein_coding||c.*7597A>G|||||4387|,C|intron_variant|MODIFIER|BCL11A|BCL11A|transcript|NM_018014.3|protein_coding|4/4|c.2231-141A>G||||||,C|intron_variant|MODIFIER|BCL11A|BCL11A|transcript|NM_138559.1|protein_coding|4/4|c.631-141A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=787;p3_1000G_AF=0.157149;p3_1000G_AFR_AF=0.1104;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=14175;p3_1000G_EAS_AF=0.2391;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=60679942;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,15:39:99:287,0,611
chr2	60460824	rs7569946	A	G	3037.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=1.105;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7569946;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|BCL11A|BCL11A|transcript|NM_022893.3|protein_coding|4/4|c.2088T>C|p.Ser696Ser|2316/5946|2088/2508|696/835||,G|synonymous_variant|LOW|BCL11A|BCL11A|transcript|NM_018014.3|protein_coding|4/5|c.2088T>C|p.Ser696Ser|2316/3958|2088/2322|696/773||,G|intron_variant|MODIFIER|BCL11A|BCL11A|transcript|NM_138559.1|protein_coding|4/4|c.630+1458T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4157;p3_1000G_AF=0.830072;p3_1000G_AFR_AF=0.9486;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=17011;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.5984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=60687959;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3996,406;ESP6500_AA_AGE=176.9+/-206.0;ESP6500_AA_GTC=1819,358,24;ESP6500_CDS_SIZES=NM_138559.1:732,NM_022893.3:2508,NM_018014.3:2322;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=5265,3331;ESP6500_EA_AGE=477.7+/-369.7;ESP6500_EA_GTC=1598,2069,631;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138559.1:intron,NM_022893.3:coding-synonymous,NM_018014.3:coding-synonymous;ESP6500_GL=BCL11A;ESP6500_GRCh38_POSITION=2:60460824;ESP6500_GTC=3417,2427,655;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138559.1:c.630+1458T>C,NM_022893.3:c.2088T>C,NM_018014.3:c.2088T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_022893.3:p.(S696),NM_018014.3:p.(S696);ESP6500_MAF=38.7506,9.2231,28.7506;ESP6500_TAC=9261,3737	GT:AD:DP:GQ:PL	1/1:0,90:90:99:3066,270,0
chr2	60462306	rs61749494	T	C	1086.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.15;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0.918;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=1.42;SOR=0.902;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61749494;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|BCL11A|BCL11A|transcript|NM_022893.3|protein_coding|4/4|c.606A>G|p.Glu202Glu|834/5946|606/2508|202/835||,C|synonymous_variant|LOW|BCL11A|BCL11A|transcript|NM_018014.3|protein_coding|4/5|c.606A>G|p.Glu202Glu|834/3958|606/2322|202/773||,C|synonymous_variant|LOW|BCL11A|BCL11A|transcript|NM_138559.1|protein_coding|4/5|c.606A>G|p.Glu202Glu|834/2358|606/732|202/243||;p3_1000G_AA=T|||;p3_1000G_AC=194;p3_1000G_AF=0.038738;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=17664;p3_1000G_EAS_AF=0.122;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=60689441;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=12,4394;ESP6500_AA_AGE=19.1+/-41.9;ESP6500_AA_GTC=0,12,2191;ESP6500_CDS_SIZES=NM_138559.1:732,NM_022893.3:2508,NM_018014.3:2322;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=99;ESP6500_EA_AC=11,8589;ESP6500_EA_AGE=7.7+/-29.5;ESP6500_EA_GTC=0,11,4289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138559.1:coding-synonymous,NM_022893.3:coding-synonymous,NM_018014.3:coding-synonymous;ESP6500_GL=BCL11A;ESP6500_GRCh38_POSITION=2:60462306;ESP6500_GTC=0,23,6480;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138559.1:c.606A>G,NM_022893.3:c.606A>G,NM_018014.3:c.606A>G;ESP6500_HGVS_PROTEIN_VAR=NM_138559.1:p.(E202),NM_022893.3:p.(E202),NM_018014.3:p.(E202);ESP6500_MAF=0.1279,0.2724,0.1768;ESP6500_TAC=23,12983	GT:AD:DP:GQ:PL	0/1:33,37:70:99:1115,0,835
chr2	60541843	rs2665668	G	A	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.57;ReadPosRankSum=0.199;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2665668;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|BCL11A|BCL11A|transcript|NM_022893.3|protein_coding|2/3|c.385+4128C>T||||||,A|intron_variant|MODIFIER|BCL11A|BCL11A|transcript|NM_018014.3|protein_coding|2/4|c.385+4128C>T||||||,A|intron_variant|MODIFIER|BCL11A|BCL11A|transcript|NM_138559.1|protein_coding|2/4|c.385+4128C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3002;p3_1000G_AF=0.599441;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=16617;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=60768978;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,4:17:99:106,0,307
chr2	60780647	rs10496089	A	G	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.615;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=4.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.967;SOR=0.141;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10496089;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|PAPOLG|PAPOLG|transcript|NM_022894.3|protein_coding|9/21|c.834-60A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3500;p3_1000G_AF=0.698882;p3_1000G_AFR_AF=0.7231;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=20613;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61007782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1035,349;ESP6500_AA_GTC=388,259,45;ESP6500_CDS_SIZES=NM_022894.3:2211;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=63;ESP6500_EA_AC=2242,940;ESP6500_EA_GTC=788,666,137;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022894.3:intron;ESP6500_GL=PAPOLG;ESP6500_GRCh38_POSITION=2:60780647;ESP6500_GTC=1176,925,182;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022894.3:c.834-60A>G;ESP6500_MAF=29.5412,25.2168,28.2304;ESP6500_TAC=3277,1289	GT:AD:DP:GQ:PL	0/1:10,11:21:99:256,0,307
chr2	60780901	rs3845814	C	T	655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3845814;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|PAPOLG|PAPOLG|transcript|NM_022894.3|protein_coding|10/21|c.906+122C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4976;p3_1000G_AF=0.99361;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19445;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61008036;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:684,63,0
chr2	60894357	rs842644	G	A	1411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.43;SOR=2.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs842644;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|REL|REL|transcript|NM_002908.3|protein_coding|2/10|c.154-40G>A||||||,A|intron_variant|MODIFIER|REL|REL|transcript|NM_001291746.1|protein_coding|2/9|c.154-40G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4885;p3_1000G_AF=0.975439;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=20033;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9533;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61121492;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4350,48;ESP6500_AA_AGE=43.1+/-76.7;ESP6500_AA_GTC=2151,48,0;ESP6500_CDS_SIZES=NM_002908.2:1860;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=41;ESP6500_EA_AC=8166,428;ESP6500_EA_AGE=128.8+/-187.0;ESP6500_EA_GTC=3885,396,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002908.2:intron;ESP6500_GL=REL;ESP6500_GRCh38_POSITION=2:60894357;ESP6500_GTC=6036,444,16;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002908.2:c.154-40G>A;ESP6500_MAF=4.9802,1.0914,3.6638;ESP6500_TAC=12516,476	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1440,123,0
chr2	60901150	rs1423897381	CTT	C	11.08	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=1.38;SOR=2.303;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|REL|REL|transcript|NM_002908.3|protein_coding|4/10|c.394+89_394+90delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|REL|REL|transcript|NM_001291746.1|protein_coding|4/9|c.394+89_394+90delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,2:4:47:48,0,47
chr2	60918363	rs149570046	AT	A	35.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.91;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=-0.051;SOR=0.635;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs149570046;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|REL|REL|transcript|NM_002908.3|protein_coding|6/10|c.641-18delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|REL|REL|transcript|NM_001291746.1|protein_coding|6/9|c.641-18delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:18,5:23:73:73,0,416
chr2	60971450	rs375108916	T	A	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.162;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375108916;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|PUS10|PUS10|transcript|NM_001322123.1|protein_coding|5/17|c.503+73A>T||||||,A|intron_variant|MODIFIER|PUS10|PUS10|transcript|NM_001322124.1|protein_coding|5/17|c.503+73A>T||||||,A|intron_variant|MODIFIER|PUS10|PUS10|transcript|NM_001322127.1|protein_coding|5/16|c.-105+73A>T||||||,A|intron_variant|MODIFIER|PUS10|PUS10|transcript|NM_144709.3|protein_coding|5/17|c.503+73A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14222;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61198585;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:214,0,225
chr2	61071549	rs1464644932	CAA	C	22.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=-0.431;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|KIAA1841|KIAA1841|transcript|NM_001129993.1|protein_coding|3/21|c.151-41_151-40delAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|KIAA1841|KIAA1841|transcript|NM_032506.2|protein_coding|3/21|c.151-41_151-40delAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,2:3:24:60,0,24
chr2	61185424	rs777585	C	T	460.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.251;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.2;ReadPosRankSum=-0.084;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs777585;dbSNPBuildID=86;ANN=T|downstream_gene_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding||c.*2678G>A|||||2031|,T|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321301.1|protein_coding|4/6|c.217-78C>T||||||,T|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321300.1|protein_coding|4/6|c.76-78C>T||||||,T|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321302.1|protein_coding|5/7|c.217-78C>T||||||,T|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321303.1|protein_coding|3/6|c.76-78C>T||||||,T|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321304.1|protein_coding|3/4|c.-839-78C>T||||||,T|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_152392.4|protein_coding|3/5|c.76-78C>T||||||,T|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321305.1|protein_coding|3/5|c.76-78C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3286;p3_1000G_AF=0.65615;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=23869;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61412559;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,15:24:99:489,0,303
chr2	61185906	rs561523754	A	G	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=0.403;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|AHSA2|AHSA2|transcript|NM_001321304.1|protein_coding|4/5|c.-435A>G||||||,G|5_prime_UTR_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321304.1|protein_coding|4/5|c.-435A>G|||||435|,G|downstream_gene_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding||c.*2196T>C|||||1549|,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321301.1|protein_coding|5/6|c.333+288A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321300.1|protein_coding|5/6|c.192+288A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321302.1|protein_coding|6/7|c.333+288A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321303.1|protein_coding|4/6|c.193-74A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_152392.4|protein_coding|4/5|c.192+288A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321305.1|protein_coding|4/5|c.192+288A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18875;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61413041;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,13:20:99:377,0,151
chr2	61186588	rs1809028	A	G	510.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.7;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=3.98;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-2.372;SOR=1.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1809028;dbSNPBuildID=92;ANN=G|downstream_gene_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding||c.*1514T>C|||||867|,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321301.1|protein_coding|6/6|c.386-29A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321300.1|protein_coding|6/6|c.245-29A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321302.1|protein_coding|7/7|c.386-29A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321303.1|protein_coding|6/6|c.347-29A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321304.1|protein_coding|4/4|c.158-29A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_152392.4|protein_coding|5/5|c.245-29A>G||||||,G|intron_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321305.1|protein_coding|5/5|c.244+91A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3984;p3_1000G_AF=0.795527;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=19063;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.8012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61413723;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6626;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4173,233;ESP6500_AA_GTC=1978,217,8;ESP6500_CDS_SIZES=NM_152392.3:414;ESP6500_CG=2.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=68;ESP6500_EA_AC=6676,1924;ESP6500_EA_GTC=2604,1468,228;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152392.3:intron;ESP6500_GL=AHSA2;ESP6500_GRCh38_POSITION=2:61186588;ESP6500_GTC=4582,1685,236;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152392.3:c.245-29A>G;ESP6500_MAF=22.3721,5.2882,16.5847;ESP6500_TAC=10849,2157	GT:AD:DP:GQ:PL	0/1:33,20:53:99:539,0,851
chr2	61190482	rs777591	A	G	583.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.332;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.287;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs777591;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321301.1|protein_coding||c.*3696A>G|||||2931|,G|downstream_gene_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321300.1|protein_coding||c.*3696A>G|||||2931|,G|downstream_gene_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321302.1|protein_coding||c.*3696A>G|||||2931|,G|downstream_gene_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321303.1|protein_coding||c.*3696A>G|||||2931|,G|downstream_gene_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321304.1|protein_coding||c.*3696A>G|||||2931|,G|downstream_gene_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_152392.4|protein_coding||c.*3696A>G|||||2931|,G|downstream_gene_variant|MODIFIER|AHSA2|AHSA2|transcript|NM_001321305.1|protein_coding||c.*2527A>G|||||1557|,G|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|77/79|c.9729+36T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3150;p3_1000G_AF=0.628994;p3_1000G_AFR_AF=0.5651;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=20438;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.6521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61417617;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2153,1539;ESP6500_AA_GTC=649,855,342;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=-11.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=59;ESP6500_EA_AC=5159,3013;ESP6500_EA_GTC=1627,1905,554;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:intron;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61190482;ESP6500_GTC=2276,2760,896;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.9729+36T>C;ESP6500_MAF=36.8698,41.6847,38.3682;ESP6500_TAC=7312,4552	GT:AD:DP:GQ:PL	0/1:25,25:50:99:612,0,630
chr2	61221641	rs2290324	A	C	706.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.992;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.32;SOR=0.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290324;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|65/79|c.7795-35T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1244;p3_1000G_AF=0.248403;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=18399;p3_1000G_EAS_AF=0.3254;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61448776;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=592,3224;ESP6500_AA_GTC=48,496,1364;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=1815,6435;ESP6500_EA_GTC=208,1399,2518;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:intron;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61221641;ESP6500_GTC=256,1895,3882;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.7795-35T>G;ESP6500_MAF=22.0,15.5136,19.9486;ESP6500_TAC=2407,9659	GT:AD:DP:GQ:PL	0/1:22,28:50:99:735,0,514
chr2	61223319	rs2123111	A	G	787.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.43;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2123111;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|62/79|c.7596-23T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2900;p3_1000G_AF=0.579073;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=16996;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.5219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61450454;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1769,1881;ESP6500_AA_GTC=439,891,495;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=104;ESP6500_EA_AC=4296,3880;ESP6500_EA_GTC=1128,2040,920;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:intron;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61223319;ESP6500_GTC=1567,2931,1415;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.7596-23T>C;ESP6500_MAF=47.456,48.4658,48.7147;ESP6500_TAC=6065,5761	GT:AD:DP:GQ:PL	1/1:0,22:22:66:816,66,0
chr2	61229475	rs776283454	A	C	18.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=9.4;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|59/79|c.7199+73T>G||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:46,6,0
chr2	61229476	rs145830957	C	A	36.18	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.09;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs145830957;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|59/79|c.7199+72G>T||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:9:63,9,0
chr2	61256573	rs34025877	CA	C	15.88	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.29;ReadPosRankSum=0.967;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34025877;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|47/79|c.6127-96delT||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:21:53,0,21
chr2	61294912	rs35292974	T	C	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.844;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35292974;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|32/79|c.4461+37A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1762;p3_1000G_AF=0.351837;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=16036;p3_1000G_EAS_AF=0.3234;p3_1000G_EUR_AF=0.3419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61522047;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1323,2249;ESP6500_AA_GTC=260,803,723;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=28;ESP6500_EA_AC=2968,5138;ESP6500_EA_GTC=547,1874,1632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:intron;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61294912;ESP6500_GTC=807,2677,2355;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.4461+37A>G;ESP6500_MAF=36.6149,37.0381,36.7443;ESP6500_TAC=4291,7387	GT:AD:DP:GQ:PL	0/1:7,8:15:99:253,0,184
chr2	61294988	rs13014347	T	C	1126.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13014347;dbSNPBuildID=121;ANN=C|synonymous_variant|LOW|USP34|USP34|transcript|NM_014709.3|protein_coding|32/80|c.4422A>G|p.Glu1474Glu|4444/11310|4422/10641|1474/3546||;p3_1000G_AA=C|||;p3_1000G_AC=4981;p3_1000G_AF=0.994609;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=16677;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61522123;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3632,12;ESP6500_AA_GTC=1810,12,0;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=-0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=66;ESP6500_EA_AC=8001,145;ESP6500_EA_GTC=3928,145,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:coding-synonymous;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61294988;ESP6500_GTC=5738,157,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.4422A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014709.3:p.(E1474);ESP6500_MAF=1.78,0.3293,1.3316;ESP6500_TAC=11633,157	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1155,102,0
chr2	61301164	rs11428092;rs386390303;rs386390304;~rs66780434	T	TA	59.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.409;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.464;SOR=0.446;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11428092;dbSNPBuildID=126,138,138;ANN=TA|splice_region_variant&intron_variant|LOW|USP34|USP34|transcript|NM_014709.3|protein_coding|28/79|c.3919-5dupT||||||;p3_1000G_AA=AAAAAA|AAAAAA|AAAAAAA|insertion;p3_1000G_AC=1586;p3_1000G_AF=0.316693;p3_1000G_AFR_AF=0.2345;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=17875;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61528299;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=INDEL;ESP6500_AA_AC=866,2646;ESP6500_AA_GTC=118,630,1008;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=71;ESP6500_EA_AC=2878,4936;ESP6500_EA_GTC=537,1804,1566;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:intron;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61301164;ESP6500_GTC=655,2434,2574;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.3919-5_3919-4insT;ESP6500_MAF=36.8313,24.6583,33.0567;ESP6500_TAC=3744,7582	GT:AD:DP:GQ:PL	0/1:5,4:9:97:97,0,129
chr2	61311467	rs141750762	G	GAAAAGAGAAAGAAAAAGAAAA	139.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=0.12;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141750762;dbSNPBuildID=134;ANN=GAAAAGAGAAAGAAAAAGAAAA|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|27/79|c.3817+72_3817+73insTTTTCTTTTTCTTTCTCTTTT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,5:9:99:0|1:61311467_G_GAAAAGAGAAAGAAAAAGAAAA:177,0,153
chr2	61311478	rs375637236	G	GAAAA	154.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.36;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.792;SOR=0.527;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GAAAA|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|27/79|c.3817+61_3817+62insTTTT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,5:11:99:1|0:61311467_G_GAAAAGAGAAAGAAAAAGAAAA:192,0,217
chr2	61311480	rs67180224;rs767874867	G	GAAAAA	154.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.705;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.888;SOR=0.527;INS;HET;VARTYPE=INS;dbSNP138_ID=rs67180224;dbSNPBuildID=138,144;ANN=GAAAAA|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|27/79|c.3817+59_3817+60insTTTTT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,5:11:99:1|0:61311467_G_GAAAAGAGAAAGAAAAAGAAAA:192,0,217
chr2	61325201	rs72813537	A	G	45.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72813537;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|21/79|c.3013+174T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1107;p3_1000G_AF=0.221046;p3_1000G_AFR_AF=0.0779;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=15697;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.1799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61552336;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:73,6,0
chr2	61325349	rs2593624	T	A	439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.43;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2593624;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|21/79|c.3013+26A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=3634;p3_1000G_AF=0.725639;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=13519;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61552484;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2826,764;ESP6500_AA_GTC=1131,564,100;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=30;ESP6500_EA_AC=5385,2713;ESP6500_EA_GTC=1815,1755,479;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:intron;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61325349;ESP6500_GTC=2946,2319,579;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.3013+26A>T;ESP6500_MAF=33.5021,21.2813,29.7485;ESP6500_TAC=8211,3477	GT:AD:DP:GQ:PL	1/1:0,18:18:54:468,54,0
chr2	61343751	rs3980973;rs72381726	AAAGT	A	238.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=0.413;SOR=0.836;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3980973,rs72381726;dbSNPBuildID=134,108;ANN=A|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|16/79|c.2500+60_2500+63delACTT||||||;p3_1000G_AC=1560;p3_1000G_AF=0.311502;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=18123;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61570886;p3_1000G_GRCH37_REF=AAAGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,7:13:99:276,0,347
chr2	61348173	rs6722430	A	G	4556.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=142;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=0.75;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6722430;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|USP34|USP34|transcript|NM_014709.3|protein_coding|15/80|c.1982T>C|p.Met661Thr|2004/11310|1982/10641|661/3546||;p3_1000G_AA=G|||;p3_1000G_AC=4973;p3_1000G_AF=0.993011;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=21021;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61575308;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3840,14;ESP6500_AA_GTC=1913,14,0;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=67;ESP6500_EA_AC=8112,160;ESP6500_EA_GTC=3977,158,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014709.3:missense;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61348173;ESP6500_GS=81;ESP6500_GTC=5890,172,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.1982T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014709.3:p.(M661T);ESP6500_MAF=1.9342,0.3633,1.4349;ESP6500_PH=benign:0.0;ESP6500_TAC=11952,174	GT:AD:DP:GQ:PL	1/1:0,142:142:99:4585,426,0
chr2	61349382	rs811378	G	A	272.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.1;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs811378;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|12/79|c.1508-97C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18729;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61576517;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:301,24,0
chr2	61350300	rs2166720	T	C	433.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.477;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.216;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.454;SOR=0.4;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2166720;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|USP34|USP34|transcript|NM_014709.3|protein_coding|12/80|c.1467A>G|p.Ala489Ala|1489/11310|1467/10641|489/3546||;p3_1000G_AA=T|||;p3_1000G_AC=1014;p3_1000G_AF=0.202476;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=18110;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.1779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61577435;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=160,3472;ESP6500_AA_GTC=4,152,1660;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=81;ESP6500_EA_AC=1250,6902;ESP6500_EA_GTC=99,1052,2925;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:coding-synonymous;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61350300;ESP6500_GTC=103,1204,4585;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.1467A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014709.3:p.(A489);ESP6500_MAF=15.3337,4.4053,11.9654;ESP6500_TAC=1410,10374	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,21:42:99:1|0:61350291_T_A:462,0,559
chr2	61378244	rs10196146	C	A	48.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10196146;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|8/79|c.1076+119G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2931;p3_1000G_AF=0.585264;p3_1000G_AFR_AF=0.5424;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=18412;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.498;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61605379;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:76,9,0
chr2	61378479	rs10208769	T	A	243.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.38;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10208769;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|7/79|c.1015-55A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2702;p3_1000G_AF=0.539537;p3_1000G_AFR_AF=0.3661;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=15125;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61605614;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=508,876;ESP6500_AA_GTC=92,324,276;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=56;ESP6500_EA_AC=1550,1602;ESP6500_EA_GTC=374,802,400;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:intron;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61378479;ESP6500_GTC=466,1126,676;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.1015-55A>T;ESP6500_MAF=49.1751,36.7052,45.3704;ESP6500_TAC=2058,2478	GT:AD:DP:GQ:PL	1/1:0,10:10:30:272,30,0
chr2	61380375	rs988911	G	A	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.066;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-0.701;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs988911;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|USP34|USP34|transcript|NM_014709.3|protein_coding|6/79|c.822-14C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=982;p3_1000G_AF=0.196086;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=21342;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61607510;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=148,3514;ESP6500_AA_GTC=5,138,1688;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=46;ESP6500_EA_AC=1107,7065;ESP6500_EA_GTC=74,959,3053;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:intron;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61380375;ESP6500_GTC=79,1097,4741;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.822-14C>T;ESP6500_MAF=13.5463,4.0415,10.605;ESP6500_TAC=1255,10579	GT:AD:DP:GQ:PL	0/1:14,7:21:99:169,0,530
chr2	61420766	rs778155	A	G	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.889;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs778155;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|USP34|USP34|transcript|NM_014709.3|protein_coding|2/80|c.111T>C|p.Tyr37Tyr|133/11310|111/10641|37/3546||,G|upstream_gene_variant|MODIFIER|SNORA70B|SNORA70B|transcript|NR_003707.2|pseudogene||n.-3389T>C|||||3389|;p3_1000G_AA=A|||;p3_1000G_AC=1680;p3_1000G_AF=0.335463;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=17643;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61647901;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=915,2803;ESP6500_AA_GTC=116,683,1060;ESP6500_CDS_SIZES=NM_014709.3:10641;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=109;ESP6500_EA_AC=3058,5150;ESP6500_EA_GTC=571,1916,1617;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014709.3:coding-synonymous;ESP6500_GL=USP34;ESP6500_GRCh38_POSITION=2:61420766;ESP6500_GTC=687,2599,2677;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014709.3:c.111T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014709.3:p.(Y37);ESP6500_MAF=37.2563,24.61,33.3138;ESP6500_TAC=3973,7953	GT:AD:DP:GQ:PL	0/1:8,10:18:99:265,0,169
chr2	61495384	rs74392163	G	GA	62.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.241;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=0.231;SOR=0.527;INS;HET;VARTYPE=INS;dbSNP138_ID=rs74392163;dbSNPBuildID=131;ANN=GA|intron_variant|MODIFIER|XPO1|XPO1|transcript|NM_003400.3|protein_coding|11/24|c.1047+70dupT||||||;p3_1000G_AC=3215;p3_1000G_AF=0.641973;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=13186;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.6312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61722519;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,4:9:99:100,0,132
chr2	61502123	rs2305155	A	G	869.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=-0.633;SOR=0.507;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305155;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|XPO1|XPO1|transcript|NM_003400.3|protein_coding|5/24|c.364-83T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3114;p3_1000G_AF=0.621805;p3_1000G_AFR_AF=0.6384;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=17834;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61729258;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,23:35:99:0|1:61502123_A_G:898,0,751
chr2	61502133	rs2305156	T	C	873.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.27;ReadPosRankSum=-0.243;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305156;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|XPO1|XPO1|transcript|NM_003400.3|protein_coding|5/24|c.364-93A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3210;p3_1000G_AF=0.640974;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=17941;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61729268;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,24:36:99:0|1:61502123_A_G:902,0,781
chr2	61522555	rs3732171	C	T	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.373;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.53;ReadPosRankSum=0.576;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732171;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|XPO1|XPO1|transcript|NM_003400.3|protein_coding|4/24|c.301+56G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3030;p3_1000G_AF=0.605032;p3_1000G_AFR_AF=0.5779;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=17471;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61749690;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=828,556;ESP6500_AA_GTC=245,338,109;ESP6500_CDS_SIZES=NM_003400.3:3216;ESP6500_CG=3.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=61;ESP6500_EA_AC=1954,1228;ESP6500_EA_GTC=601,752,238;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003400.3:intron;ESP6500_GL=XPO1;ESP6500_GRCh38_POSITION=2:61522555;ESP6500_GTC=846,1090,347;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003400.3:c.301+56G>A;ESP6500_MAF=38.5921,40.1734,39.0714;ESP6500_TAC=2782,1784	GT:AD:DP:GQ:PL	0/1:15,7:22:99:172,0,384
chr2	61522581	rs3732170	C	T	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.32;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.544;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-1.379;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732170;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|XPO1|XPO1|transcript|NM_003400.3|protein_coding|4/24|c.301+30G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3208;p3_1000G_AF=0.640575;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=17645;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=61749716;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3040,1364;ESP6500_AA_AGE=430.6+/-342.6;ESP6500_AA_GTC=1055,930,217;ESP6500_CDS_SIZES=NM_003400.3:3216;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=51;ESP6500_EA_AC=5278,3318;ESP6500_EA_AGE=473.4+/-368.6;ESP6500_EA_GTC=1632,2014,652;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003400.3:intron;ESP6500_GL=XPO1;ESP6500_GRCh38_POSITION=2:61522581;ESP6500_GTC=2687,2944,869;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003400.3:c.301+30G>A;ESP6500_MAF=38.5993,30.9718,36.0154;ESP6500_TAC=8318,4682	GT:AD:DP:GQ:PL	0/1:18,13:31:99:279,0,486
chr2	61835958	rs11299120;rs397984774;rs569674900	TA	T	127.19	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.557;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.83;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11299120;dbSNPBuildID=137,142,138;ANN=T|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_001201543.1|protein_coding|5/6|c.1851+51delT||||||,T|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_032180.2|protein_coding|4/5|c.1683+51delT||||||,T|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NR_037710.1|pseudogene|4/5|n.1729+51delT||||||	GT:AD:DP:GQ:PL	0/1:2,8:10:4:163,0,4
chr2	61838624	rs6545910	C	T	761.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.516;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.94;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6545910;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|FAM161A|FAM161A|transcript|NM_001201543.1|protein_coding|4/7|c.1665G>A|p.Leu555Leu|1767/3860|1665/2151|555/716||,T|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_032180.2|protein_coding|3/5|c.1583+797G>A||||||,T|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NR_037710.1|pseudogene|3/5|n.1629+797G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=500;p3_1000G_AF=0.0998403;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=12908;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.1034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62065759;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=37,1715;ESP6500_AA_GTC=0,37,839;ESP6500_CDS_SIZES=NM_032180.2:1983,NM_001201543.1:2151;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=151;ESP6500_EA_AC=459,3523;ESP6500_EA_GTC=31,397,1563;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032180.2:intron,NM_001201543.1:coding-synonymous;ESP6500_GL=FAM161A;ESP6500_GRCh38_POSITION=2:61838624;ESP6500_GTC=31,434,2402;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032180.2:c.1583+797G>A,NM_001201543.1:c.1665G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001201543.1:p.(L555);ESP6500_MAF=11.5269,2.1119,8.6502;ESP6500_TAC=496,5238	GT:AD:DP:GQ:PL	0/1:27,37:64:99:790,0,680
chr2	61839282	rs3074535;rs36214963;rs68027162	ATATAT	A	88.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs36214963,rs68027162;dbSNPBuildID=134,102,130;ANN=A|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_001201543.1|protein_coding|3/6|c.1583+134_1583+138delATATA||||||,A|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_032180.2|protein_coding|3/5|c.1583+134_1583+138delATATA||||||,A|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NR_037710.1|pseudogene|3/5|n.1629+134_1629+138delATATA||||||;p3_1000G_AC=2375;p3_1000G_AF=0.474241;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=14386;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62066417;p3_1000G_GRCH37_REF=ATATAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:125,9,0
chr2	61839792	rs4672457;96217	A	G	1873.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=0.762;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672457;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|FAM161A|FAM161A|transcript|NM_001201543.1|protein_coding|3/7|c.1212T>C|p.Cys404Cys|1314/3860|1212/2151|404/716||,G|synonymous_variant|LOW|FAM161A|FAM161A|transcript|NM_032180.2|protein_coding|3/6|c.1212T>C|p.Cys404Cys|1314/3692|1212/1983|404/660||,G|non_coding_transcript_exon_variant|MODIFIER|FAM161A|FAM161A|transcript|NR_037710.1|pseudogene|3/6|n.1258T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4906;p3_1000G_AF=0.979633;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=19030;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62066927;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3928,14;ESP6500_AA_GTC=1957,14,0;ESP6500_CDS_SIZES=NM_032180.2:1983,NM_001201543.1:2151;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=82;ESP6500_EA_AC=8071,233;ESP6500_EA_GTC=3921,229,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032180.2:coding-synonymous,NM_001201543.1:coding-synonymous;ESP6500_GL=FAM161A;ESP6500_GRCh38_POSITION=2:61839792;ESP6500_GTC=5878,243,2;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032180.2:c.1212T>C,NM_001201543.1:c.1212T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032180.2:p.(C404),NM_001201543.1:p.(C404);ESP6500_MAF=2.8059,0.3551,2.017;ESP6500_TAC=11999,247;CLINVAR_ALLELEID=102111;CLINVAR_CLNDISDB=MedGen:C1419614,OMIM:606068|MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=Retinitis_pigmentosa_28|not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.61839792A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:24999;CLINVAR_GENEINFO=FAM161A:84140;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4672457	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1902,174,0
chr2	61846962	rs12476816	G	A	670.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.871;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=2.538;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.829;SOR=1.11;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12476816;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_001201543.1|protein_coding|1/6|c.184-4602C>T||||||,A|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_032180.2|protein_coding|1/5|c.184-4602C>T||||||,A|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NR_037710.1|pseudogene|1/5|n.286-4602C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1082;p3_1000G_AF=0.216054;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=21284;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62074097;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,25:61:99:699,0,1084
chr2	61847005	rs113296637	A	AAC	1351.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.35;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113296637;dbSNPBuildID=132;ANN=AAC|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_001201543.1|protein_coding|1/6|c.184-4647_184-4646dupGT||||||,AAC|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_032180.2|protein_coding|1/5|c.184-4647_184-4646dupGT||||||,AAC|intron_variant|MODIFIER|FAM161A|FAM161A|transcript|NR_037710.1|pseudogene|1/5|n.286-4647_286-4646dupGT||||||;p3_1000G_AC=4398;p3_1000G_AF=0.878195;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=20440;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.8797;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62074140;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1389,99,0
chr2	61853877	rs4270331;193466	A	C	1048.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4270331;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|FAM161A|FAM161A|transcript|NM_001201543.1|protein_coding|1/7|c.165T>G|p.Ala55Ala|267/3860|165/2151|55/716||,C|synonymous_variant|LOW|FAM161A|FAM161A|transcript|NM_032180.2|protein_coding|1/6|c.165T>G|p.Ala55Ala|267/3692|165/1983|55/660||,C|non_coding_transcript_exon_variant|MODIFIER|FAM161A|FAM161A|transcript|NR_037710.1|pseudogene|1/6|n.267T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4905;p3_1000G_AF=0.979433;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=15127;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62081012;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3125,11;ESP6500_AA_GTC=1557,11,0;ESP6500_CDS_SIZES=NM_032180.2:1983,NM_001201543.1:2151;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=45;ESP6500_EA_AC=6966,198;ESP6500_EA_GTC=3386,194,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032180.2:coding-synonymous,NM_001201543.1:coding-synonymous;ESP6500_GL=FAM161A;ESP6500_GRCh38_POSITION=2:61853877;ESP6500_GTC=4943,205,2;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_032180.2:c.165T>G,NM_001201543.1:c.165T>G;ESP6500_HGVS_PROTEIN_VAR=NM_032180.2:p.(A55),NM_001201543.1:p.(A55);ESP6500_MAF=2.7638,0.3508,2.0291;ESP6500_TAC=10091,209;CLINVAR_ALLELEID=190630;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.61853877A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=FAM161A:84140;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4270331	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1077,99,0
chr2	61854082	rs1881616;336747	A	G	467.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1881616;dbSNPBuildID=92;ANN=G|5_prime_UTR_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_001201543.1|protein_coding|1/7|c.-41T>C|||||41|,G|5_prime_UTR_variant|MODIFIER|FAM161A|FAM161A|transcript|NM_032180.2|protein_coding|1/6|c.-41T>C|||||41|,G|non_coding_transcript_exon_variant|MODIFIER|FAM161A|FAM161A|transcript|NR_037710.1|pseudogene|1/6|n.62T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4905;p3_1000G_AF=0.979433;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=13208;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62081217;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2966,10;ESP6500_AA_GTC=1478,10,0;ESP6500_CDS_SIZES=NM_032180.2:1983,NM_001201543.1:2151;ESP6500_CG=2.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=4;ESP6500_EA_AC=6631,171;ESP6500_EA_GTC=3233,165,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032180.2:utr-5,NM_001201543.1:utr-5;ESP6500_GL=FAM161A;ESP6500_GRCh38_POSITION=2:61854082;ESP6500_GTC=4711,175,3;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032180.2:c.-41T>C,NM_001201543.1:c.-41T>C;ESP6500_MAF=2.514,0.336,1.8511;ESP6500_TAC=9597,181;CLINVAR_ALLELEID=290124;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.61854082A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25013;CLINVAR_GENEINFO=FAM161A:84140;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1881616	GT:AD:DP:GQ:PL	1/1:0,15:15:45:496,45,0
chr2	61868859	rs4672463	A	G	54.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672463;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CCT4|CCT4|transcript|NM_006430.3|protein_coding|13/13|c.1606-153T>C||||||,G|intron_variant|MODIFIER|CCT4|CCT4|transcript|NM_001256721.1|protein_coding|12/12|c.1516-153T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=16915;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62095994;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:82,6,0
chr2	61880241	rs5831625	T	TC	199.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5831625,rs72536101;dbSNPBuildID=126;ANN=TC|intron_variant|MODIFIER|CCT4|CCT4|transcript|NM_006430.3|protein_coding|4/13|c.379+44_379+45insG||||||,TC|intron_variant|MODIFIER|CCT4|CCT4|transcript|NM_001256721.1|protein_coding|3/12|c.289+44_289+45insG||||||;p3_1000G_AA=C|-|C|deletion;p3_1000G_AC=4906;p3_1000G_AF=0.979633;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=17973;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62107376;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=INDEL;ESP6500_AA_AC=4246,18;ESP6500_AA_GTC=2114,18,0;ESP6500_CDS_SIZES=NM_006430.3:1620,NM_001256721.1:1530;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=39;ESP6500_EA_AC=8006,246;ESP6500_EA_GTC=3881,244,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006430.3:intron,NM_001256721.1:intron;ESP6500_GL=CCT4;ESP6500_GRCh38_POSITION=2:61880241;ESP6500_GTC=5995,262,1;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006430.3:c.379+44_379+45insG,NM_001256721.1:c.289+44_289+45insG;ESP6500_MAF=2.9811,0.4221,2.1093;ESP6500_TAC=12252,264	GT:AD:DP:GQ:PL	1/1:0,6:6:18:237,18,0
chr2	61885111	rs397951865;rs529055445;rs57035931	C	CT	237.06	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.213;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=0.822;SOR=0.914;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57035931;dbSNPBuildID=130,142,138;ANN=CT|upstream_gene_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321781.1|protein_coding||c.-115608_-115607insT|||||3611|,CT|upstream_gene_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321782.1|protein_coding||c.-115608_-115607insT|||||3611|,CT|intron_variant|MODIFIER|CCT4|CCT4|transcript|NM_006430.3|protein_coding|1/13|c.128-40dupA||||||,CT|intron_variant|MODIFIER|CCT4|CCT4|transcript|NM_001256721.1|protein_coding|1/12|c.128-40dupA||||||	GT:AD:DP:GQ:PL	0/1:2,12:14:11:274,0,11
chr2	61929743	rs11125901	A	G	234.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11125901;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_152516.3|protein_coding|1/2|c.180+23885A>G||||||,G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321781.1|protein_coding|1/2|c.-19+40901A>G||||||,G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321782.1|protein_coding|1/2|c.-19+40908A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4766;p3_1000G_AF=0.951677;p3_1000G_AFR_AF=0.9614;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=19846;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62156878;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:263,21,0
chr2	61930617	rs59488185;rs796686622	TTGTG	T	632.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.417;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.3;ReadPosRankSum=2;SOR=0.293;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs59488185,rs71938033;dbSNPBuildID=137,146;ANN=T|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_152516.3|protein_coding|1/2|c.180+24796_180+24799delTGTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321781.1|protein_coding|1/2|c.-19+41812_-19+41815delTGTG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321782.1|protein_coding|1/2|c.-19+41819_-19+41822delTGTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,15:17:99:599,0,144
chr2	61969143	rs56190007	T	G	230.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.64;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56190007;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_152516.3|protein_coding|1/2|c.181-31558T>G||||||,G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321781.1|protein_coding|1/2|c.-18-31558T>G||||||,G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321782.1|protein_coding|1/2|c.-18-31558T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2101;p3_1000G_AF=0.419529;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=14371;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.3608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62196278;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:259,27,0
chr2	62001045	rs55785307	C	G	236.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55785307;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_152516.3|protein_coding|2/2|c.462+63C>G||||||,G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321781.1|protein_coding|2/2|c.264+63C>G||||||,G|intron_variant|MODIFIER|COMMD1|COMMD1|transcript|NM_001321782.1|protein_coding|2/2|c.264+63C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1085;p3_1000G_AF=0.216653;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=23663;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.2565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62228180;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:265,24,0
chr2	62223496	rs3811616	A	G	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=-0.605;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811616;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|B3GNT2|B3GNT2|transcript|NM_001319075.1|protein_coding|2/2|c.*82A>G|||||82|,G|3_prime_UTR_variant|MODIFIER|B3GNT2|B3GNT2|transcript|NM_006577.5|protein_coding|2/2|c.*82A>G|||||82|;p3_1000G_AA=A|||;p3_1000G_AC=932;p3_1000G_AF=0.186102;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=19620;p3_1000G_EAS_AF=0.2361;p3_1000G_EUR_AF=0.1272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62450631;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,3:11:94:0|1:62223482_T_C:94,0,242
chr2	62502539	rs4672527	T	C	912.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672527;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|TMEM17|TMEM17|transcript|NM_198276.2|protein_coding|3/4|c.216A>G|p.Leu72Leu|556/1925|216/597|72/198||;p3_1000G_AA=C|||;p3_1000G_AC=4063;p3_1000G_AF=0.811302;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=19815;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.8718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62729674;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3801,605;ESP6500_AA_AGE=261.9+/-264.6;ESP6500_AA_GTC=1651,499,53;ESP6500_CDS_SIZES=NM_198276.2:597;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=82;ESP6500_EA_AC=7639,961;ESP6500_EA_AGE=209.6+/-250.7;ESP6500_EA_GTC=3397,845,58;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198276.2:coding-synonymous;ESP6500_GL=TMEM17;ESP6500_GRCh38_POSITION=2:62502539;ESP6500_GTC=5048,1344,111;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198276.2:c.216A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198276.2:p.(L72);ESP6500_MAF=11.1744,13.7313,12.0406;ESP6500_TAC=11440,1566	GT:AD:DP:GQ:PL	1/1:0,29:29:87:941,87,0
chr2	62502612	rs11443505;rs397770387	G	GA	836.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.88;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11443505;dbSNPBuildID=130,138;ANN=GA|intron_variant|MODIFIER|TMEM17|TMEM17|transcript|NM_198276.2|protein_coding|2/3|c.205-63dupT||||||;p3_1000G_AA=AAAAAAA|AAAAAA|AAAAAAA|deletion;p3_1000G_AC=4063;p3_1000G_AF=0.811302;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=18692;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.8718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62729747;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,28:28:84:874,84,0
chr2	62506118	rs11676567	C	T	775.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.71;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11676567;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|TMEM17|TMEM17|transcript|NM_198276.2|protein_coding|1/4|c.12G>A|p.Pro4Pro|352/1925|12/597|4/198||;p3_1000G_AA=C|||;p3_1000G_AC=2167;p3_1000G_AF=0.432708;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=13268;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.3569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=62733253;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1912,2494;ESP6500_AA_GTC=431,1050,722;ESP6500_CDS_SIZES=NM_198276.2:597;ESP6500_CG=-1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=25;ESP6500_EA_AC=3217,5383;ESP6500_EA_GTC=619,1979,1702;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198276.2:coding-synonymous;ESP6500_GL=TMEM17;ESP6500_GRCh38_POSITION=2:62506118;ESP6500_GTC=1050,3029,2424;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198276.2:c.12G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198276.2:p.(P4);ESP6500_MAF=37.407,43.3954,39.4356;ESP6500_TAC=5129,7877	GT:AD:DP:GQ:PL	1/1:0,28:28:84:804,84,0
chr2	62859208	rs145562120	A	C	539.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.244;SOR=0.79;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145562120;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|EHBP1|EHBP1|transcript|NM_015252.3|protein_coding|9/25|c.779A>C|p.Lys260Thr|1261/5164|779/3696|260/1231||,C|missense_variant|MODERATE|EHBP1|EHBP1|transcript|NM_001142615.2|protein_coding|8/23|c.674A>C|p.Lys225Thr|1202/4997|674/3483|225/1160||,C|missense_variant|MODERATE|EHBP1|EHBP1|transcript|NM_001142616.1|protein_coding|8/23|c.674A>C|p.Lys225Thr|1156/4951|674/3483|225/1160||,C|missense_variant|MODERATE|EHBP1|EHBP1|transcript|NM_001142614.1|protein_coding|7/23|c.674A>C|p.Lys225Thr|969/4872|674/3591|225/1196||;p3_1000G_AA=A|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17455;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63086343;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_015252.3:3696,NM_001142616.1:3483,NM_001142615.2:3483,NM_001142614.1:3591;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=120;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015252.3:missense,NM_001142616.1:missense,NM_001142615.2:missense,NM_001142614.1:missense;ESP6500_GL=EHBP1;ESP6500_GRCh38_POSITION=2:62859208;ESP6500_GS=78,78,78,78;ESP6500_GTC=0,1,6502;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015252.3:c.779A>C,NM_001142616.1:c.674A>C,NM_001142615.2:c.674A>C,NM_001142614.1:c.674A>C;ESP6500_HGVS_PROTEIN_VAR=NM_015252.3:p.(K260T),NM_001142616.1:p.(K225T),NM_001142615.2:p.(K225T),NM_001142614.1:p.(K225T);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=possibly-damaging:0.546,possibly-damaging:0.546,possibly-damaging:0.546,possibly-damaging:0.546;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,22:47:99:0|1:62859208_A_C:568,0,625
chr2	62943770	rs75746135	A	G	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.794;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=0.842;SOR=1.628;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75746135;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_015252.3|protein_coding|12/24|c.1470-32A>G||||||,G|intron_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142615.2|protein_coding|11/22|c.1365-32A>G||||||,G|intron_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142616.1|protein_coding|11/22|c.1365-32A>G||||||,G|intron_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142614.1|protein_coding|10/22|c.1365-32A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=326;p3_1000G_AF=0.0650958;p3_1000G_AFR_AF=0.0227;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=16789;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.1153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63170905;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=185,4221;ESP6500_AA_AGE=110.4+/-148.6;ESP6500_AA_GTC=7,171,2025;ESP6500_CDS_SIZES=NM_015252.3:3696,NM_001142616.1:3483,NM_001142615.2:3483,NM_001142614.1:3591;ESP6500_CG=-5.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=53;ESP6500_EA_AC=1221,7377;ESP6500_EA_AGE=243.6+/-273.1;ESP6500_EA_GTC=91,1039,3169;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015252.3:intron,NM_001142616.1:intron,NM_001142615.2:intron,NM_001142614.1:intron;ESP6500_GL=EHBP1;ESP6500_GRCh38_POSITION=2:62943770;ESP6500_GTC=98,1210,5194;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015252.3:c.1470-32A>G,NM_001142616.1:c.1365-32A>G,NM_001142615.2:c.1365-32A>G,NM_001142614.1:c.1365-32A>G;ESP6500_MAF=14.201,4.1988,10.8121;ESP6500_TAC=1406,11598	GT:AD:DP:GQ:PL	0/1:9,22:31:99:673,0,166
chr2	62943786	rs2302567	C	G	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.294;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.382;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.67;ReadPosRankSum=-0.916;SOR=0.263;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302567;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_015252.3|protein_coding|12/24|c.1470-16C>G||||||,G|intron_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142615.2|protein_coding|11/22|c.1365-16C>G||||||,G|intron_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142616.1|protein_coding|11/22|c.1365-16C>G||||||,G|intron_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142614.1|protein_coding|10/22|c.1365-16C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=583;p3_1000G_AF=0.116414;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=17618;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.1322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63170921;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=150,4256;ESP6500_AA_AGE=95.3+/-134.0;ESP6500_AA_GTC=4,142,2057;ESP6500_CDS_SIZES=NM_015252.3:3696,NM_001142616.1:3483,NM_001142615.2:3483,NM_001142614.1:3591;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=1084,7516;ESP6500_EA_AGE=221.5+/-258.9;ESP6500_EA_GTC=63,958,3279;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015252.3:intron,NM_001142616.1:intron,NM_001142615.2:intron,NM_001142614.1:intron;ESP6500_GL=EHBP1;ESP6500_GRCh38_POSITION=2:62943786;ESP6500_GTC=67,1100,5336;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015252.3:c.1470-16C>G,NM_001142616.1:c.1365-16C>G,NM_001142615.2:c.1365-16C>G,NM_001142614.1:c.1365-16C>G;ESP6500_MAF=12.6047,3.4044,9.4879;ESP6500_TAC=1234,11772	GT:AD:DP:GQ:PL	0/1:23,11:34:99:221,0,652
chr2	62949004	rs17432615	A	C	540.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.519;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=2.937;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.672;SOR=0.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17432615;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|EHBP1|EHBP1|transcript|NM_015252.3|protein_coding|14/25|c.2263A>C|p.Lys755Gln|2745/5164|2263/3696|755/1231||,C|missense_variant|MODERATE|EHBP1|EHBP1|transcript|NM_001142615.2|protein_coding|13/23|c.2158A>C|p.Lys720Gln|2686/4997|2158/3483|720/1160||,C|missense_variant|MODERATE|EHBP1|EHBP1|transcript|NM_001142616.1|protein_coding|13/23|c.2158A>C|p.Lys720Gln|2640/4951|2158/3483|720/1160||,C|missense_variant|MODERATE|EHBP1|EHBP1|transcript|NM_001142614.1|protein_coding|12/23|c.2158A>C|p.Lys720Gln|2453/4872|2158/3591|720/1196||;p3_1000G_AA=A|||;p3_1000G_AC=307;p3_1000G_AF=0.0613019;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=18003;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63176139;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=174,4230;ESP6500_AA_AGE=108.2+/-146.6;ESP6500_AA_GTC=6,162,2034;ESP6500_CDS_SIZES=NM_015252.3:3696,NM_001142616.1:3483,NM_001142615.2:3483,NM_001142614.1:3591;ESP6500_CG=6.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=44;ESP6500_EA_AC=1145,7453;ESP6500_EA_AGE=225.7+/-261.6;ESP6500_EA_GTC=79,987,3233;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015252.3:missense,NM_001142616.1:missense,NM_001142615.2:missense,NM_001142614.1:missense;ESP6500_GL=EHBP1;ESP6500_GRCh38_POSITION=2:62949004;ESP6500_GS=53,53,53,53;ESP6500_GTC=85,1149,5267;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015252.3:c.2263A>C,NM_001142616.1:c.2158A>C,NM_001142615.2:c.2158A>C,NM_001142614.1:c.2158A>C;ESP6500_HGVS_PROTEIN_VAR=NM_015252.3:p.(K755Q),NM_001142616.1:p.(K720Q),NM_001142615.2:p.(K720Q),NM_001142614.1:p.(K720Q);ESP6500_MAF=13.3171,3.951,10.1446;ESP6500_PH=probably-damaging:0.977,probably-damaging:0.977,probably-damaging:0.977,probably-damaging:0.977;ESP6500_TAC=1319,11683	GT:AD:DP:GQ:PL	0/1:16,21:37:99:569,0,409
chr2	63045589	rs2018650	T	C	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=-0.18;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2018650;dbSNPBuildID=92;ANN=C|3_prime_UTR_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_015252.3|protein_coding|25/25|c.*89T>C|||||89|,C|3_prime_UTR_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142615.2|protein_coding|23/23|c.*89T>C|||||89|,C|3_prime_UTR_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142616.1|protein_coding|23/23|c.*89T>C|||||89|,C|3_prime_UTR_variant|MODIFIER|EHBP1|EHBP1|transcript|NM_001142614.1|protein_coding|23/23|c.*89T>C|||||89|,C|upstream_gene_variant|MODIFIER|OTX1|OTX1|transcript|NM_001199770.1|protein_coding||c.-7402T>C|||||4468|,C|intron_variant|MODIFIER|LOC100132215|LOC100132215|transcript|NR_027069.1|pseudogene|3/3|n.548-146A>G||||||,C|intron_variant|MODIFIER|LOC100132215|LOC100132215|transcript|NR_033389.1|pseudogene|3/3|n.408-146A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=602;p3_1000G_AF=0.120208;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=18555;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.1372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63272724;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,137
chr2	63055432	rs2162011	G	A	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.089;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=1.65;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2162011;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|OTX1|OTX1|transcript|NM_001199770.1|protein_coding|4/4|c.250-69G>A||||||,A|intron_variant|MODIFIER|OTX1|OTX1|transcript|NM_014562.3|protein_coding|4/4|c.250-69G>A||||||,A|intron_variant|MODIFIER|OTX1|OTX1|transcript|NR_130153.1|pseudogene|4/4|n.641-69G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1837;p3_1000G_AF=0.366813;p3_1000G_AFR_AF=0.4372;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=14889;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.4175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63282567;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,14:27:99:346,0,324
chr2	63056043	rs17850223	C	G	1021.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.019;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0.811;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.741;SOR=0.821;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17850223;dbSNPBuildID=123;ANN=G|synonymous_variant|LOW|OTX1|OTX1|transcript|NM_001199770.1|protein_coding|5/5|c.792C>G|p.Leu264Leu|1068/2856|792/1065|264/354||,G|synonymous_variant|LOW|OTX1|OTX1|transcript|NM_014562.3|protein_coding|5/5|c.792C>G|p.Leu264Leu|1068/2856|792/1065|264/354||,G|non_coding_transcript_exon_variant|MODIFIER|OTX1|OTX1|transcript|NR_130153.1|pseudogene|5/5|n.1183C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=621;p3_1000G_AF=0.124002;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=17931;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.1362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63283178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=194,4212;ESP6500_AA_AGE=122.9+/-160.3;ESP6500_AA_GTC=9,176,2018;ESP6500_CDS_SIZES=NM_014562.3:1065,NM_001199770.1:1065;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=126;ESP6500_EA_AC=1138,7462;ESP6500_EA_AGE=233.9+/-267.0;ESP6500_EA_GTC=73,992,3235;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014562.3:coding-synonymous,NM_001199770.1:coding-synonymous;ESP6500_GL=OTX1;ESP6500_GRCh38_POSITION=2:63056043;ESP6500_GTC=82,1168,5253;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014562.3:c.792C>G,NM_001199770.1:c.792C>G;ESP6500_HGVS_PROTEIN_VAR=NM_014562.3:p.(L264),NM_001199770.1:p.(L264);ESP6500_MAF=13.2326,4.4031,10.2414;ESP6500_TAC=1332,11674	GT:AD:DP:GQ:PL	0/1:46,40:86:99:1050,0,1283
chr2	63259294	rs992214;95744	C	T	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.296;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.509;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs992214;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_015910.5|protein_coding|14/17|c.1915+13G>A||||||,T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_001042692.2|protein_coding|8/11|c.1438+13G>A||||||,T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NR_122106.1|pseudogene|8/11|n.1558+17G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3825;p3_1000G_AF=0.763778;p3_1000G_AFR_AF=0.9592;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=16620;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.5109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63486429;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3215,413;ESP6500_AA_GTC=1425,365,24;ESP6500_CDS_SIZES=NM_015910.5:2241;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=101;ESP6500_EA_AC=4124,4030;ESP6500_EA_GTC=1050,2024,1003;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015910.5:intron;ESP6500_GL=WDPCP;ESP6500_GRCh38_POSITION=2:63259294;ESP6500_GTC=2475,2389,1027;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015910.5:c.1915+13G>A;ESP6500_MAF=49.4236,11.3837,37.7101;ESP6500_TAC=7339,4443;CLINVAR_ALLELEID=101641;CLINVAR_CLNDISDB=MedGen:C0752166,OMIM:209900,Orphanet:ORPHA110,SNOMED_CT:5619004|MedGen:CN169374;CLINVAR_CLNDN=Bardet-Biedl_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.63259294C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25028;CLINVAR_GENEINFO=WDPCP:51057;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=992214	GT:AD:DP:GQ:PL	0/1:9,9:18:99:203,0,268
chr2	63313189	rs1517403	A	G	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.812;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1517403;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_015910.5|protein_coding|13/17|c.1812+59T>C||||||,G|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_001042692.2|protein_coding|7/11|c.1335+59T>C||||||,G|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NR_122106.1|pseudogene|7/11|n.1459+59T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=543;p3_1000G_AF=0.108427;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=19451;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.1978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63540324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=65,1319;ESP6500_AA_GTC=1,63,628;ESP6500_CDS_SIZES=NM_015910.5:2241;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=70;ESP6500_EA_AC=629,2553;ESP6500_EA_GTC=68,493,1030;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015910.5:intron;ESP6500_GL=WDPCP;ESP6500_GRCh38_POSITION=2:63313189;ESP6500_GTC=69,556,1658;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015910.5:c.1812+59T>C;ESP6500_MAF=19.7674,4.6965,15.1993;ESP6500_TAC=694,3872	GT:AD:DP:GQ:PL	0/1:7,7:14:99:215,0,215
chr2	63313388	rs1517402	A	T	222.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1517402;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_015910.5|protein_coding|12/17|c.1749-77T>A||||||,T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_001042692.2|protein_coding|6/11|c.1272-77T>A||||||,T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NR_122106.1|pseudogene|6/11|n.1396-77T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4377;p3_1000G_AF=0.874002;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=20441;p3_1000G_EAS_AF=0.9524;p3_1000G_EUR_AF=0.7038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63540523;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:251,21,0
chr2	63378295	rs2292795	A	G	366.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292795;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_015910.5|protein_coding|12/17|c.1748+91T>C||||||,G|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_001042692.2|protein_coding|6/11|c.1271+91T>C||||||,G|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NR_122106.1|pseudogene|6/11|n.1395+91T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4376;p3_1000G_AF=0.873802;p3_1000G_AFR_AF=0.9788;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=18227;p3_1000G_EAS_AF=0.9524;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63605430;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:395,36,0
chr2	63381882	rs2138796	A	T	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.703;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=0.022;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2138796;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_015910.5|protein_coding|11/17|c.1624+24T>A||||||,T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_001042692.2|protein_coding|5/11|c.1147+24T>A||||||,T|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NR_122106.1|pseudogene|5/11|n.1271+24T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2461;p3_1000G_AF=0.491414;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=17340;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.5706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63609017;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1992,1656;ESP6500_AA_GTC=552,888,384;ESP6500_CDS_SIZES=NM_015910.5:2241;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=39;ESP6500_EA_AC=4673,3483;ESP6500_EA_GTC=1351,1971,756;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015910.5:intron;ESP6500_GL=WDPCP;ESP6500_GRCh38_POSITION=2:63381882;ESP6500_GTC=1903,2859,1140;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015910.5:c.1624+24T>A;ESP6500_MAF=42.7048,45.3947,43.5361;ESP6500_TAC=6665,5139	GT:AD:DP:GQ:PL	0/1:5,3:8:64:64,0,154
chr2	63404695	rs6724115	T	C	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.45;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=1.25;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6724115;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_015910.5|protein_coding|9/17|c.826-38A>G||||||,C|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_001042692.2|protein_coding|3/11|c.349-38A>G||||||,C|intron_variant|MODIFIER|WDPCP|WDPCP|transcript|NR_122106.1|pseudogene|3/11|n.473-38A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=979;p3_1000G_AF=0.195487;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=18857;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.2058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63631830;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=710,2982;ESP6500_AA_GTC=64,582,1200;ESP6500_CDS_SIZES=NM_015910.5:2241;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=43;ESP6500_EA_AC=1670,6480;ESP6500_EA_GTC=218,1234,2623;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015910.5:intron;ESP6500_GL=WDPCP;ESP6500_GRCh38_POSITION=2:63404695;ESP6500_GTC=282,1816,3823;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015910.5:c.826-38A>G;ESP6500_MAF=20.4908,19.2308,20.098;ESP6500_TAC=2380,9462	GT:AD:DP:GQ:PL	0/1:10,6:16:99:173,0,263
chr2	63589538	rs10469944	C	G	862.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.93;SOR=6.184;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10469944;dbSNPBuildID=119;ANN=G|upstream_gene_variant|MODIFIER|WDPCP|WDPCP|transcript|NM_015910.5|protein_coding||c.-1267G>C|||||805|,G|intron_variant|MODIFIER|MDH1|MDH1|transcript|NM_001316374.1|protein_coding|1/8|c.3+492C>G||||||,G|intron_variant|MODIFIER|MDH1|MDH1|transcript|NM_005917.3|protein_coding|1/8|c.3+492C>G||||||,G|intron_variant|MODIFIER|MDH1|MDH1|transcript|NM_001199111.1|protein_coding|1/8|c.57+154C>G||||||,G|intron_variant|MODIFIER|MDH1|MDH1|transcript|NM_001199112.1|protein_coding|1/7|c.-168+154C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4380;p3_1000G_AF=0.874601;p3_1000G_AFR_AF=0.9599;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=19288;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.7058;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63816672;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:891,63,0
chr2	63599394	rs7606045	T	G	136.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.01;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7606045;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MDH1|MDH1|transcript|NM_001316374.1|protein_coding|5/8|c.498+102T>G||||||,G|intron_variant|MODIFIER|MDH1|MDH1|transcript|NM_005917.3|protein_coding|5/8|c.498+102T>G||||||,G|intron_variant|MODIFIER|MDH1|MDH1|transcript|NM_001199111.1|protein_coding|5/8|c.552+102T>G||||||,G|intron_variant|MODIFIER|MDH1|MDH1|transcript|NM_001199112.1|protein_coding|4/7|c.231+102T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3871;p3_1000G_AF=0.772963;p3_1000G_AFR_AF=0.6104;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=15160;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=63826528;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:164,12,0
chr2	63842598	rs6546029	G	A	806.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6546029;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|UGP2|UGP2|transcript|NM_006759.3|protein_coding|1/9|c.19+394G>A||||||,A|intron_variant|MODIFIER|UGP2|UGP2|transcript|NM_001001521.1|protein_coding|1/9|c.-15+1366G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4225;p3_1000G_AF=0.84365;p3_1000G_AFR_AF=0.8253;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=18068;p3_1000G_EAS_AF=0.9177;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64069732;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:835,75,0
chr2	63857980	rs10183479	G	A	131.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.38;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10183479;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|UGP2|UGP2|transcript|NM_006759.3|protein_coding|3/9|c.255+44G>A||||||,A|intron_variant|MODIFIER|UGP2|UGP2|transcript|NM_001001521.1|protein_coding|3/9|c.222+44G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4230;p3_1000G_AF=0.844649;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=18005;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.8101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64085114;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3674,666;ESP6500_AA_GTC=1537,600,33;ESP6500_CDS_SIZES=NM_006759.3:1527,NM_001001521.1:1494;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=41;ESP6500_EA_AC=6931,1659;ESP6500_EA_GTC=2801,1329,165;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006759.3:intron,NM_001001521.1:intron;ESP6500_GL=UGP2;ESP6500_GRCh38_POSITION=2:63857980;ESP6500_GTC=4338,1929,198;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006759.3:c.255+44G>A,NM_001001521.1:c.222+44G>A;ESP6500_MAF=19.3132,15.3456,17.9814;ESP6500_TAC=10605,2325	GT:AD:DP:GQ:PL	1/1:0,5:5:15:160,15,0
chr2	63862978	rs909031538	AGTCATCTACCTTT	A	292.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.493;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.167;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNPBuildID=150;ANN=A|intron_variant|MODIFIER|UGP2|UGP2|transcript|NM_006759.3|protein_coding|3/9|c.255+5046_255+5058delATCTACCTTTGTC||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|UGP2|UGP2|transcript|NM_001001521.1|protein_coding|3/9|c.222+5046_222+5058delATCTACCTTTGTC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:13,9:22:99:330,0,1632
chr2	63983845	rs746887655	CA	C	95.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.994;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=7.339;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=-0.423;SOR=0.095;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|VPS54|VPS54|transcript|NM_016516.2|protein_coding|2/22|c.136+18delT||||||,C|intron_variant|MODIFIER|VPS54|VPS54|transcript|NM_001005739.1|protein_coding|2/22|c.136+18delT||||||	GT:AD:DP:GQ:PL	0/1:23,8:31:99:133,0,553
chr2	64100410	rs329498	G	T	273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.225;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.82;ReadPosRankSum=-0.27;SOR=1.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs329498;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|PELI1|PELI1|transcript|NM_020651.3|protein_coding|4/7|c.291C>A|p.Thr97Thr|751/3767|291/1257|97/418||;p3_1000G_AA=G|||;p3_1000G_AC=1781;p3_1000G_AF=0.355631;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=15856;p3_1000G_EAS_AF=0.752;p3_1000G_EUR_AF=0.2992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64327544;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=607,3799;ESP6500_AA_AGE=263.4+/-265.5;ESP6500_AA_GTC=41,525,1637;ESP6500_CDS_SIZES=NM_020651.3:1257;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=143;ESP6500_EA_AC=2613,5987;ESP6500_EA_AGE=423.3+/-354.3;ESP6500_EA_GTC=403,1807,2090;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020651.3:coding-synonymous;ESP6500_GL=PELI1;ESP6500_GRCh38_POSITION=2:64100410;ESP6500_GTC=444,2332,3727;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_020651.3:c.291C>A;ESP6500_HGVS_PROTEIN_VAR=NM_020651.3:p.(T97);ESP6500_MAF=30.3837,13.7767,24.7578;ESP6500_TAC=3220,9786	GT:AD:DP:GQ:PL	0/1:21,14:35:99:302,0,481
chr2	64100458	rs329497	T	C	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.098;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-1.774;SOR=0.559;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs329497;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|PELI1|PELI1|transcript|NM_020651.3|protein_coding|4/7|c.243A>G|p.Leu81Leu|703/3767|243/1257|81/418||;p3_1000G_AA=T|||;p3_1000G_AC=1754;p3_1000G_AF=0.35024;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=15865;p3_1000G_EAS_AF=0.752;p3_1000G_EUR_AF=0.2992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64327592;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=535,3871;ESP6500_AA_AGE=241.5+/-251.9;ESP6500_AA_GTC=33,469,1701;ESP6500_CDS_SIZES=NM_020651.3:1257;ESP6500_CG=0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=155;ESP6500_EA_AC=2617,5983;ESP6500_EA_AGE=424.1+/-354.6;ESP6500_EA_GTC=403,1811,2086;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020651.3:coding-synonymous;ESP6500_GL=PELI1;ESP6500_GRCh38_POSITION=2:64100458;ESP6500_GTC=436,2280,3787;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020651.3:c.243A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020651.3:p.(L81);ESP6500_MAF=30.4302,12.1425,24.235;ESP6500_TAC=3152,9854	GT:AD:DP:GQ:PL	0/1:20,16:36:99:347,0,460
chr2	64104681	rs571762262;rs767062918	CTT	C	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.15;SOR=1.609;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144,142;ANN=C|intron_variant|MODIFIER|PELI1|PELI1|transcript|NM_020651.3|protein_coding|3/6|c.201+18_201+19delAA||||||	GT:AD:DP:GQ:PL	0/1:1,3:4:21:77,0,21
chr2	64455230	rs3770741	A	C	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770741;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|LGALSL|LGALSL|transcript|NM_014181.2|protein_coding|1/4|c.37-114A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2844;p3_1000G_AF=0.567891;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=16793;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.5646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64682364;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:99:120,0,290
chr2	64573105	rs75307105	G	A	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.841;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=2.36;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75307105;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|AFTPH|AFTPH|transcript|NM_203437.3|protein_coding|6/9|c.2394+37G>A||||||,A|intron_variant|MODIFIER|AFTPH|AFTPH|transcript|NM_001002243.2|protein_coding|6/8|c.2394+37G>A||||||,A|intron_variant|MODIFIER|AFTPH|AFTPH|transcript|NM_017657.4|protein_coding|6/8|c.2394+37G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=449;p3_1000G_AF=0.0896565;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=18273;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0.0537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=64800239;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=74,4332;ESP6500_AA_AGE=65.3+/-102.7;ESP6500_AA_GTC=2,70,2131;ESP6500_CDS_SIZES=NM_203437.3:2811,NM_017657.4:2730,NM_001002243.2:2727;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=70;ESP6500_EA_AC=533,8067;ESP6500_EA_AGE=147.3+/-202.7;ESP6500_EA_GTC=22,489,3789;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203437.3:intron,NM_017657.4:intron,NM_001002243.2:intron;ESP6500_GL=AFTPH;ESP6500_GRCh38_POSITION=2:64573105;ESP6500_GTC=24,559,5920;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_203437.3:c.2394+37G>A,NM_017657.4:c.2394+37G>A,NM_001002243.2:c.2394+37G>A;ESP6500_MAF=6.1977,1.6795,4.6671;ESP6500_TAC=607,12399	GT:AD:DP:GQ:PL	0/1:9,14:23:99:405,0,287
chr2	65088746	rs1420184	G	C	439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1420184;dbSNPBuildID=88;ANN=C|downstream_gene_variant|MODIFIER|CEP68|CEP68|transcript|NM_001319100.1|protein_coding||c.*6041G>C|||||1738|,C|downstream_gene_variant|MODIFIER|CEP68|CEP68|transcript|NM_001319101.1|protein_coding||c.*6041G>C|||||1738|,C|downstream_gene_variant|MODIFIER|CEP68|CEP68|transcript|NM_015147.2|protein_coding||c.*6041G>C|||||1738|,C|downstream_gene_variant|MODIFIER|CEP68|CEP68|transcript|NR_134966.1|pseudogene||n.*1738G>C|||||1738|,C|intron_variant|MODIFIER|RAB1A|RAB1A|transcript|NM_004161.4|protein_coding|5/5|c.421-56C>G||||||,C|intron_variant|MODIFIER|RAB1A|RAB1A|transcript|NM_015543.1|protein_coding|3/3|c.193-56C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3176;p3_1000G_AF=0.634185;p3_1000G_AFR_AF=0.5628;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=22319;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.6869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65315880;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:468,36,0
chr2	65246796	rs58944514	AAAATTTTC	A	290.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.126;SOR=1.048;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs58944514;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|4/9|c.390+58_390+65delAAATTTTC||||||,A|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|3/8|c.375+58_375+65delAAATTTTC||||||;p3_1000G_AC=2613;p3_1000G_AF=0.521765;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=18097;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.5268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65473930;p3_1000G_GRCH37_REF=AAAATTTTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:14,9:23:99:328,0,1382
chr2	65250869	rs268853	C	T	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.674;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs268853;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|4/9|c.391-158C>T||||||,T|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|3/8|c.376-158C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4077;p3_1000G_AF=0.814097;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=15541;p3_1000G_EAS_AF=0.7798;p3_1000G_EUR_AF=0.8549;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65478003;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7147;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:31:74,0,31
chr2	65253874	rs268871	A	C	37.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.961;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.565;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs268871;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|6/9|c.600+10A>C||||||,C|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|5/8|c.585+10A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3941;p3_1000G_AF=0.786941;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=16875;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.8479;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65481008;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3589,817;ESP6500_AA_AGE=747.0+/-411.8;ESP6500_AA_GTC=1485,619,99;ESP6500_CDS_SIZES=NM_005722.3:1185,NM_001005386.2:1200;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=68;ESP6500_EA_AC=7289,1311;ESP6500_EA_AGE=757.1+/-407.5;ESP6500_EA_GTC=3084,1121,95;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005722.3:intron,NM_001005386.2:intron;ESP6500_GL=ACTR2;ESP6500_GRCh38_POSITION=2:65253874;ESP6500_GTC=4569,1740,194;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005722.3:c.585+10A>C,NM_001005386.2:c.600+10A>C;ESP6500_MAF=15.2442,18.5429,16.3617;ESP6500_TAC=10878,2128	GT:AD:DP:GQ:PL	0/1:26,5:31:66:66,0,758
chr2	65261104	rs5831745;rs869234950;rs74262571	T	TC	58.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.92;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.34;ReadPosRankSum=-0.914;SOR=1.112;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5831745;dbSNPBuildID=131,147;ANN=TC|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|7/9|c.751-139dupC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|6/8|c.736-139dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1998;p3_1000G_AF=0.398962;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=18282;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65488238;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:7,4:11:96:96,0,186
chr2	65261152	rs147753295;rs186267227	AC	A	384.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.702;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=-0.569;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs147753295;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|7/9|c.751-94delC||||||,A|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|6/8|c.736-94delC||||||;p3_1000G_AC=97;p3_1000G_AF=0.019369;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17233;p3_1000G_EAS_AF=0.0883;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65488286;p3_1000G_GRCH37_REF=AC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:9,12:21:99:422,0,300
chr2	65261404	rs268862	G	A	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.515;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.735;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs268862;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|8/9|c.896+12G>A||||||,A|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|7/8|c.881+12G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4073;p3_1000G_AF=0.813299;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=17456;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.8499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65488538;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3964,442;ESP6500_AA_AGE=208.2+/-229.3;ESP6500_AA_GTC=1784,396,23;ESP6500_CDS_SIZES=NM_005722.3:1185,NM_001005386.2:1200;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=57;ESP6500_EA_AC=7294,1306;ESP6500_EA_AGE=256.6+/-281.0;ESP6500_EA_GTC=3091,1112,97;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005722.3:intron,NM_001005386.2:intron;ESP6500_GL=ACTR2;ESP6500_GRCh38_POSITION=2:65261404;ESP6500_GTC=4875,1508,120;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005722.3:c.881+12G>A,NM_001005386.2:c.896+12G>A;ESP6500_MAF=15.186,10.0318,13.44;ESP6500_TAC=11258,1748	GT:AD:DP:GQ:PL	0/1:9,7:16:99:217,0,294
chr2	65268436	rs55843720	A	C	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.32;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.59;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55843720;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|9/9|c.1030-128A>C||||||,C|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|8/8|c.1015-128A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4065;p3_1000G_AF=0.811701;p3_1000G_AFR_AF=0.8994;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=19257;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.8519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65495570;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,5:16:99:0|1:65268436_A_C:219,0,1135
chr2	65268437	rs60931828	T	C	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=6.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.855;SOR=3.003;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60931828;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|9/9|c.1030-127T>C||||||,C|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|8/8|c.1015-127T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4065;p3_1000G_AF=0.811701;p3_1000G_AFR_AF=0.8994;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=19254;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.8519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65495571;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,6:17:99:0|1:65268436_A_C:219,0,1135
chr2	65268439	rs398104377;rs72536103	A	AC	181.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.303;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=6.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.955;SOR=3.003;INS;HET;VARTYPE=INS;dbSNP138_ID=rs72536103;dbSNPBuildID=138,138;ANN=AC|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|9/9|c.1030-124dupC||||||INFO_REALIGN_3_PRIME,AC|intron_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|8/8|c.1015-124dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=4063;p3_1000G_AF=0.811302;p3_1000G_AFR_AF=0.8994;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=19761;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.8519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65495573;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,6:17:99:0|1:65268436_A_C:219,0,1135
chr2	65268753	rs268875	G	A	804.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.836;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0.924;MLEAC=1;MLEAF=0.5;MQ=59.94;MQRankSum=-1.262;QD=12.01;ReadPosRankSum=-1.39;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs268875;dbSNPBuildID=79;ANN=A|3_prime_UTR_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|10/10|c.*19G>A|||||19|,A|3_prime_UTR_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|9/9|c.*19G>A|||||19|;p3_1000G_AA=A|||;p3_1000G_AC=4048;p3_1000G_AF=0.808307;p3_1000G_AFR_AF=0.9002;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=19699;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.8728;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65495887;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7321;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3942,464;ESP6500_AA_AGE=218.4+/-236.5;ESP6500_AA_GTC=1771,400,32;ESP6500_CDS_SIZES=NM_005722.3:1185,NM_001005386.2:1200;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=70;ESP6500_EA_AC=7503,1093;ESP6500_EA_AGE=228.2+/-263.3;ESP6500_EA_GTC=3280,943,75;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005722.3:utr-3,NM_001005386.2:utr-3;ESP6500_GL=ACTR2;ESP6500_GRCh38_POSITION=2:65268753;ESP6500_GTC=5051,1343,107;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005722.3:c.*19G>A,NM_001005386.2:c.*19G>A;ESP6500_MAF=12.7152,10.5311,11.9751;ESP6500_TAC=11445,1557	GT:AD:DP:GQ:PL	0/1:30,37:67:99:833,0,740
chr2	65268884	rs11424	C	G	605.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.077;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.304;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11424;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|10/10|c.*150C>G|||||150|,G|3_prime_UTR_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|9/9|c.*150C>G|||||150|;p3_1000G_AA=C|||;p3_1000G_AC=1997;p3_1000G_AF=0.398762;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=18535;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65496018;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,23:40:99:634,0,455
chr2	65268924	rs17038564	A	G	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.823;SOR=0.829;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17038564;dbSNPBuildID=123;ANN=G|3_prime_UTR_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_001005386.2|protein_coding|10/10|c.*190A>G|||||190|,G|3_prime_UTR_variant|MODIFIER|ACTR2|ACTR2|transcript|NM_005722.3|protein_coding|9/9|c.*190A>G|||||190|;p3_1000G_AA=A|||;p3_1000G_AC=556;p3_1000G_AF=0.111022;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=18262;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65496058;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,12:26:99:352,0,344
chr2	65313771	rs8827	C	G	3029.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=0.953;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8827;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|SPRED2|SPRED2|transcript|NM_181784.2|protein_coding|6/6|c.987G>C|p.Ala329Ala|1522/4442|987/1257|329/418||,G|synonymous_variant|LOW|SPRED2|SPRED2|transcript|NM_001128210.1|protein_coding|6/6|c.978G>C|p.Ala326Ala|1169/4089|978/1248|326/415||;p3_1000G_AA=C|||;p3_1000G_AC=1980;p3_1000G_AF=0.395367;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=17430;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65540905;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=670,3736;ESP6500_AA_AGE=273.1+/-271.2;ESP6500_AA_GTC=53,564,1586;ESP6500_CDS_SIZES=NM_181784.2:1257,NM_001128210.1:1248;ESP6500_CG=-6.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=81;ESP6500_EA_AC=2208,6390;ESP6500_EA_AGE=354.6+/-329.6;ESP6500_EA_GTC=291,1626,2382;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181784.2:coding-synonymous,NM_001128210.1:coding-synonymous;ESP6500_GL=SPRED2;ESP6500_GRCh38_POSITION=2:65313771;ESP6500_GTC=344,2190,3968;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_181784.2:c.987G>C,NM_001128210.1:c.978G>C;ESP6500_HGVS_PROTEIN_VAR=NM_181784.2:p.(A329),NM_001128210.1:p.(A326);ESP6500_MAF=25.6804,15.2065,22.1317;ESP6500_TAC=2878,10126	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3058,279,0
chr2	65331893	rs2271198	A	G	475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.99;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271198;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_181784.2|protein_coding|4/5|c.438+94T>C||||||,G|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_001128210.1|protein_coding|4/5|c.429+94T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3570;p3_1000G_AF=0.712859;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=22577;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65559027;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:504,51,0
chr2	65334258	rs4671658	C	T	885.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4671658;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_181784.2|protein_coding|3/5|c.373+347G>A||||||,T|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_001128210.1|protein_coding|3/5|c.364+347G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1798;p3_1000G_AF=0.359026;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=18575;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.2982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65561392;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:914,84,0
chr2	65339373	rs35076561	T	C	64.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.66;QD=21.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs145442455;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_181784.2|protein_coding|2/5|c.205-4600A>G||||||,C|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_001128210.1|protein_coding|2/5|c.196-4600A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=3199;p3_1000G_AF=0.638778;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=11593;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.5249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65566507;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6564;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr2	65339423	rs148829614	T	C	59.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.28;QD=29.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs148829614;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_181784.2|protein_coding|2/5|c.205-4650A>G||||||,C|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_001128210.1|protein_coding|2/5|c.196-4650A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1802;p3_1000G_AF=0.359824;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=12543;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65566557;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:87,6,0
chr2	65377780	rs268120	A	G	420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs268120;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|SPRED2|SPRED2|transcript|NM_181784.2|protein_coding|1/5|c.27-32884T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4057;p3_1000G_AF=0.810104;p3_1000G_AFR_AF=0.77;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=18376;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.7465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=65604914;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:449,36,0
chr2	66438014	rs2280334	T	C	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=-0.024;SOR=0.716;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280334;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|MEIS1-AS3|MEIS1-AS3|transcript|NR_046438.2|pseudogene||n.-4544A>G|||||4544|,C|downstream_gene_variant|MODIFIER|MEIS1-AS2|MEIS1-AS2|transcript|NR_046625.1|pseudogene||n.*1081A>G|||||1081|,C|intron_variant|MODIFIER|MEIS1|MEIS1|transcript|NM_002398.2|protein_coding|2/12|c.239+51T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2831;p3_1000G_AF=0.565296;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=21919;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66665146;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1228,1044;ESP6500_AA_GTC=327,574,235;ESP6500_CDS_SIZES=NM_002398.2:1173;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=32;ESP6500_EA_AC=2955,1453;ESP6500_EA_GTC=1006,943,255;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002398.2:intron;ESP6500_GL=MEIS1;ESP6500_GRCh38_POSITION=2:66438014;ESP6500_GTC=1333,1517,490;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002398.2:c.239+51T>C;ESP6500_MAF=32.9628,45.9507,37.3802;ESP6500_TAC=4183,2497	GT:AD:DP:GQ:PL	0/1:12,17:29:99:521,0,345
chr2	66440068	rs9309387	A	AACACACACACACAC	43.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.967;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs60086042,rs9309387;dbSNPBuildID=137;ANN=AACACACACACACAC|intron_variant|MODIFIER|MEIS1|MEIS1|transcript|NM_002398.2|protein_coding|3/12|c.381+95_381+108dupACACACACACACAC||||||INFO_REALIGN_3_PRIME,AACACACACACACAC|intron_variant|MODIFIER|MEIS1-AS2|MEIS1-AS2|transcript|NR_046625.1|pseudogene|1/1|n.106+143_106+156dupGTGTGTGTGTGTGT||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:81:81,0,145
chr2	66440756	rs189549504	G	T	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.72;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.361;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189549504;dbSNPBuildID=135;ANN=T|upstream_gene_variant|MODIFIER|MEIS1-AS2|MEIS1-AS2|transcript|NR_046625.1|pseudogene||n.-426C>A|||||426|,T|intron_variant|MODIFIER|MEIS1|MEIS1|transcript|NM_002398.2|protein_coding|4/12|c.432+144G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=9275;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66667888;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:173,0,132
chr2	66571150	rs2861108	G	T	372.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.67;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2861108;dbSNPBuildID=101;ANN=T|upstream_gene_variant|MODIFIER|LOC100507073|LOC100507073|transcript|NR_110156.1|pseudogene||n.-2880G>T|||||2880|,T|intron_variant|MODIFIER|MEIS1|MEIS1|transcript|NM_002398.2|protein_coding|12/12|c.*38-96G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4205;p3_1000G_AF=0.839657;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=19305;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=66798282;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:401,39,0
chr2	67410064	rs1569	G	A	306.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.09;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1569;dbSNPBuildID=36;ANN=A|3_prime_UTR_variant|MODIFIER|ETAA1|ETAA1|transcript|NM_019002.3|protein_coding|6/6|c.*26G>A|||||26|;p3_1000G_AA=A|||;p3_1000G_AC=4938;p3_1000G_AF=0.986022;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=15702;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=67637196;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4356,48;ESP6500_AA_AGE=50.9+/-86.3;ESP6500_AA_GTC=2155,46,1;ESP6500_CDS_SIZES=NM_019002.3:2781;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=79;ESP6500_EA_AC=8177,423;ESP6500_EA_AGE=130.3+/-188.3;ESP6500_EA_GTC=3882,413,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019002.3:utr-3;ESP6500_GL=ETAA1;ESP6500_GRCh38_POSITION=2:67410064;ESP6500_GTC=6037,459,6;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019002.3:c.*26G>A;ESP6500_MAF=4.9186,1.0899,3.622;ESP6500_TAC=12533,471	GT:AD:DP:GQ:PL	1/1:0,9:9:27:335,27,0
chr2	68131209	rs62145930	T	C	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.559;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62145930;dbSNPBuildID=129;ANN=C|3_prime_UTR_variant|MODIFIER|WDR92|WDR92|transcript|NM_138458.3|protein_coding|8/8|c.*29A>G|||||29|,C|downstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NR_046234.1|pseudogene||n.*2875A>G|||||2875|,C|downstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_001256476.1|protein_coding||c.*3492A>G|||||2882|;p3_1000G_AA=C|||;p3_1000G_AC=2572;p3_1000G_AF=0.513578;p3_1000G_AFR_AF=0.5303;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=14983;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.4046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68358341;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2173,2233;ESP6500_AA_AGE=591.8+/-387.6;ESP6500_AA_GTC=543,1087,573;ESP6500_CDS_SIZES=NM_138458.3:1074;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=58;ESP6500_EA_AC=3346,5254;ESP6500_EA_AGE=643.0+/-399.9;ESP6500_EA_GTC=677,1992,1631;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138458.3:utr-3;ESP6500_GL=WDR92;ESP6500_GRCh38_POSITION=2:68131209;ESP6500_GTC=1220,3079,2204;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138458.3:c.*29A>G;ESP6500_MAF=38.907,49.3191,42.4343;ESP6500_TAC=5519,7487	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,14:29:99:0|1:68131209_T_C:442,0,351
chr2	68157965	rs2044693	A	G	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.569;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.932;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.849;SOR=0.301;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2044693;dbSNPBuildID=94;ANN=G|missense_variant|MODERATE|PNO1|PNO1|transcript|NM_020143.3|protein_coding|1/7|c.31A>G|p.Arg11Gly|136/2300|31/759|11/252||,G|missense_variant|MODERATE|PNO1|PNO1|transcript|NM_001329917.1|protein_coding|1/6|c.31A>G|p.Arg11Gly|136/1662|31/642|11/213||,G|missense_variant|MODERATE|PNO1|PNO1|transcript|NM_001329916.1|protein_coding|1/6|c.31A>G|p.Arg11Gly|136/2229|31/666|11/221||,G|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_138458.3|protein_coding||c.-522T>C|||||405|,G|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NR_046234.1|pseudogene||n.-419T>C|||||419|,G|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_001256476.1|protein_coding||c.-522T>C|||||405|,G|non_coding_transcript_exon_variant|MODIFIER|PNO1|PNO1|transcript|NR_138146.1|pseudogene|1/7|n.136A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3848;p3_1000G_AF=0.768371;p3_1000G_AFR_AF=0.9788;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=17405;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68385097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4052,350;ESP6500_AA_GTC=1869,314,18;ESP6500_CDS_SIZES=NM_020143.2:759;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=31;ESP6500_EA_AC=5573,3021;ESP6500_EA_GTC=1822,1929,546;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020143.2:missense;ESP6500_GL=PNO1;ESP6500_GRCh38_POSITION=2:68157965;ESP6500_GS=125;ESP6500_GTC=3691,2243,564;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020143.2:c.31A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020143.2:p.(R11G);ESP6500_MAF=35.1524,7.9509,25.9388;ESP6500_PH=benign:0.0;ESP6500_TAC=9625,3371	GT:AD:DP:GQ:PL	0/1:21,17:38:99:377,0,579
chr2	68161691	rs1137930	A	G	564.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.225;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.42;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1137930;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|PNO1|PNO1|transcript|NM_020143.3|protein_coding|3/7|c.366A>G|p.Lys122Lys|471/2300|366/759|122/252||,G|synonymous_variant|LOW|PNO1|PNO1|transcript|NM_001329917.1|protein_coding|3/6|c.366A>G|p.Lys122Lys|471/1662|366/642|122/213||,G|synonymous_variant|LOW|PNO1|PNO1|transcript|NM_001329916.1|protein_coding|3/6|c.366A>G|p.Lys122Lys|471/2229|366/666|122/221||,G|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_138458.3|protein_coding||c.-4248T>C|||||4131|,G|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NR_046234.1|pseudogene||n.-4145T>C|||||4145|,G|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_001256476.1|protein_coding||c.-4248T>C|||||4131|,G|non_coding_transcript_exon_variant|MODIFIER|PNO1|PNO1|transcript|NR_138146.1|pseudogene|3/7|n.471A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1702;p3_1000G_AF=0.339856;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=19239;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.327;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68388823;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=562,3844;ESP6500_AA_AGE=247.2+/-255.5;ESP6500_AA_GTC=36,490,1677;ESP6500_CDS_SIZES=NM_020143.2:759;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=102;ESP6500_EA_AC=2618,5982;ESP6500_EA_AGE=420.3+/-353.3;ESP6500_EA_GTC=402,1814,2084;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020143.2:coding-synonymous;ESP6500_GL=PNO1;ESP6500_GRCh38_POSITION=2:68161691;ESP6500_GTC=438,2304,3761;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020143.2:c.366A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020143.2:p.(K122);ESP6500_MAF=30.4419,12.7553,24.4503;ESP6500_TAC=3180,9826	GT:AD:DP:GQ:PL	0/1:19,25:44:99:593,0,435
chr2	68162144	rs11402583;rs397752364;rs530812214	G	GA	16.82	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.903;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=-0.319;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11402583;dbSNPBuildID=137,142,138;ANN=GA|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_138458.3|protein_coding||c.-4702dupT|||||4585|,GA|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NR_046234.1|pseudogene||n.-4599dupT|||||4599|,GA|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_001256476.1|protein_coding||c.-4702dupT|||||4585|,GA|intron_variant|MODIFIER|PNO1|PNO1|transcript|NM_020143.3|protein_coding|3/6|c.442-111dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|PNO1|PNO1|transcript|NM_001329917.1|protein_coding|3/5|c.442-111dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|PNO1|PNO1|transcript|NM_001329916.1|protein_coding|3/5|c.442-111dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|PNO1|PNO1|transcript|NR_138146.1|pseudogene|3/6|n.547-111dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:7,3:10:54:54,0,168
chr2	68162349	rs3217588	CTT	C	646.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.013;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-0.083;SOR=0.175;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3217588;dbSNPBuildID=106;ANN=C|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_138458.3|protein_coding||c.-4908_-4907delAA|||||4790|,C|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NR_046234.1|pseudogene||n.-4805_-4804delAA|||||4804|,C|upstream_gene_variant|MODIFIER|WDR92|WDR92|transcript|NM_001256476.1|protein_coding||c.-4908_-4907delAA|||||4790|,C|intron_variant|MODIFIER|PNO1|PNO1|transcript|NM_020143.3|protein_coding|4/6|c.502+25_502+26delTT||||||,C|intron_variant|MODIFIER|PNO1|PNO1|transcript|NM_001329917.1|protein_coding|4/5|c.502+25_502+26delTT||||||,C|intron_variant|MODIFIER|PNO1|PNO1|transcript|NM_001329916.1|protein_coding|4/5|c.502+25_502+26delTT||||||,C|intron_variant|MODIFIER|PNO1|PNO1|transcript|NR_138146.1|pseudogene|4/6|n.607+25_607+26delTT||||||;p3_1000G_AC=1523;p3_1000G_AF=0.304113;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=17484;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.2863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68389481;p3_1000G_GRCH37_REF=CTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=INDEL;ESP6500_AA_AC=399,3867;ESP6500_AA_GTC=17,365,1751;ESP6500_CDS_SIZES=NM_020143.2:759;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=141;ESP6500_EA_AC=2067,6187;ESP6500_EA_GTC=263,1541,2323;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020143.2:intron;ESP6500_GL=PNO1;ESP6500_GRCh38_POSITION=2:68162349;ESP6500_GTC=280,1906,4074;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020143.2:c.502+25_502+26del2;ESP6500_MAF=25.0424,9.353,19.6965;ESP6500_TAC=2466,10054	GT:AD:DP:GQ:PL	0/1:17,18:35:99:684,0,725
chr2	68174880	rs1060842	G	T	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.719;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-1.602;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1060842;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|PNO1|PNO1|transcript|NM_020143.3|protein_coding|7/7|c.*78G>T|||||78|,T|3_prime_UTR_variant|MODIFIER|PNO1|PNO1|transcript|NM_001329916.1|protein_coding|6/6|c.*100G>T|||||100|,T|downstream_gene_variant|MODIFIER|PPP3R1|PPP3R1|transcript|NM_000945.3|protein_coding||c.*6083C>A|||||3977|,T|non_coding_transcript_exon_variant|MODIFIER|PNO1|PNO1|transcript|NR_138146.1|pseudogene|7/7|n.911G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3865;p3_1000G_AF=0.771765;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=15657;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.6362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68402012;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:280,0,209
chr2	68188635	rs687	G	A	449.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.849;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.313;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs687;dbSNPBuildID=36;ANN=A|synonymous_variant|LOW|PPP3R1|PPP3R1|transcript|NM_000945.3|protein_coding|3/6|c.99C>T|p.Asp33Asp|491/3011|99/513|33/170||;p3_1000G_AA=G|||;p3_1000G_AC=2582;p3_1000G_AF=0.515575;p3_1000G_AFR_AF=0.5227;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=15459;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.4195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68415767;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6524;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1763,1895;ESP6500_AA_GTC=425,913,491;ESP6500_CDS_SIZES=NM_000945.3:513;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=75;ESP6500_EA_AC=3226,4950;ESP6500_EA_GTC=658,1910,1520;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000945.3:coding-synonymous;ESP6500_GL=PPP3R1;ESP6500_GRCh38_POSITION=2:68188635;ESP6500_GTC=1083,2823,2011;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000945.3:c.99C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000945.3:p.(D33);ESP6500_MAF=39.4569,48.1957,42.1582;ESP6500_TAC=4989,6845	GT:AD:DP:GQ:PL	0/1:8,19:27:99:478,0,223
chr2	68217039	rs374427852	C	CACGCAG	301.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.124;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.17;ReadPosRankSum=-0.159;SOR=0.754;INS;HET;VARTYPE=INS;dbSNP138_ID=rs374427852;dbSNPBuildID=138;ANN=CACGCAG|intron_variant|MODIFIER|PPP3R1|PPP3R1|transcript|NM_000945.3|protein_coding|2/5|c.43+52_43+53insCTGCGT||||||	GT:AD:DP:GQ:PL	0/1:5,5:10:99:339,0,369
chr2	68284374	rs5831925;rs869129472	GA	G	245.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.064;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=13.262;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-1.156;SOR=1.419;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5831925;dbSNPBuildID=130,147;ANN=G|3_prime_UTR_variant|MODIFIER|CNRIP1|CNRIP1|transcript|NM_001111101.1|protein_coding|3/3|c.*53delT|||||53|	GT:AD:DP:GQ:PL	0/1:13,13:26:99:283,0,270
chr2	68284452	rs735815	A	G	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.015;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.212;SOR=0.965;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs735815;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|CNRIP1|CNRIP1|transcript|NM_001111101.1|protein_coding|3/3|c.363T>C|p.Ser121Ser|1014/1295|363/387|121/128||;p3_1000G_AA=A|||;p3_1000G_AC=1974;p3_1000G_AF=0.394169;p3_1000G_AFR_AF=0.121;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=21161;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68511584;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=267,1117;ESP6500_AA_GTC=24,219,449;ESP6500_CDS_SIZES=NM_001111101.1:387;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=114;ESP6500_EA_AC=1368,1814;ESP6500_EA_GTC=309,750,532;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001111101.1:coding-synonymous;ESP6500_GL=CNRIP1;ESP6500_GRCh38_POSITION=2:68284452;ESP6500_GTC=333,969,981;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001111101.1:c.363T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001111101.1:p.(S121);ESP6500_MAF=42.9918,19.2919,35.8081;ESP6500_TAC=1635,2931	GT:AD:DP:GQ:PL	0/1:24,17:41:99:386,0,621
chr2	68319242	rs4671898	T	C	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.61;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.31;ReadPosRankSum=-0.325;SOR=1.08;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4671898;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|CNRIP1|CNRIP1|transcript|NM_015463.2|protein_coding|1/3|c.159A>G|p.Lys53Lys|810/1998|159/495|53/164||,C|synonymous_variant|LOW|CNRIP1|CNRIP1|transcript|NM_001111101.1|protein_coding|1/3|c.159A>G|p.Lys53Lys|810/1295|159/387|53/128||;p3_1000G_AA=C|||;p3_1000G_AC=2068;p3_1000G_AF=0.412939;p3_1000G_AFR_AF=0.5386;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=14600;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68546374;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2011,2171;ESP6500_AA_GTC=516,979,596;ESP6500_CDS_SIZES=NM_015463.2:495,NM_001111101.1:387;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=47;ESP6500_EA_AC=3616,4482;ESP6500_EA_GTC=877,1862,1310;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015463.2:coding-synonymous,NM_001111101.1:coding-synonymous;ESP6500_GL=CNRIP1;ESP6500_GRCh38_POSITION=2:68319242;ESP6500_GTC=1393,2841,1906;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015463.2:c.159A>G,NM_001111101.1:c.159A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015463.2:p.(K53),NM_001111101.1:p.(K53);ESP6500_MAF=44.653,48.087,45.8225;ESP6500_TAC=5627,6653	GT:AD:DP:GQ:PL	0/1:9,3:12:92:92,0,217
chr2	68319317	rs13025842	G	A	61.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.329;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=-0.261;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13025842;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|CNRIP1|CNRIP1|transcript|NM_015463.2|protein_coding|1/3|c.84C>T|p.Asp28Asp|735/1998|84/495|28/164||,A|synonymous_variant|LOW|CNRIP1|CNRIP1|transcript|NM_001111101.1|protein_coding|1/3|c.84C>T|p.Asp28Asp|735/1295|84/387|28/128||;p3_1000G_AA=G|||;p3_1000G_AC=1044;p3_1000G_AF=0.208466;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=15369;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.331;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68546449;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=718,3632;ESP6500_AA_GTC=64,590,1521;ESP6500_CDS_SIZES=NM_015463.2:495,NM_001111101.1:387;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=40;ESP6500_EA_AC=2642,5878;ESP6500_EA_GTC=429,1784,2047;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015463.2:coding-synonymous,NM_001111101.1:coding-synonymous;ESP6500_GL=CNRIP1;ESP6500_GRCh38_POSITION=2:68319317;ESP6500_GTC=493,2374,3568;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015463.2:c.84C>T,NM_001111101.1:c.84C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015463.2:p.(D28),NM_001111101.1:p.(D28);ESP6500_MAF=31.0094,16.5057,26.1072;ESP6500_TAC=3360,9510	GT:AD:DP:GQ:PL	0/1:7,4:11:90:90,0,190
chr2	68365452	rs880668	T	C	1948.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=1.532;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs880668;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PLEK|PLEK|transcript|NM_002664.2|protein_coding|1/8|c.42+59T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4334;p3_1000G_AF=0.865415;p3_1000G_AFR_AF=0.9554;p3_1000G_AMR_AF=0.8199;p3_1000G_AN=5008;p3_1000G_DP=19353;p3_1000G_EAS_AF=0.9454;p3_1000G_EUR_AF=0.7117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68592584;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1285,99;ESP6500_AA_GTC=597,91,4;ESP6500_CDS_SIZES=NM_002664.2:1053;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=79;ESP6500_EA_AC=2342,840;ESP6500_EA_GTC=862,618,111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002664.2:intron;ESP6500_GL=PLEK;ESP6500_GRCh38_POSITION=2:68365452;ESP6500_GTC=1459,709,115;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002664.2:c.42+59T>C;ESP6500_MAF=26.3985,7.1532,20.565;ESP6500_TAC=3627,939	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1977,177,0
chr2	68365568	rs3770651	A	G	362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3770651;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PLEK|PLEK|transcript|NM_002664.2|protein_coding|1/8|c.42+175A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2702;p3_1000G_AF=0.539537;p3_1000G_AFR_AF=0.5204;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=17784;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.3698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68592700;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:391,30,0
chr2	68380815	rs3816281	G	T	1084.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.81;SOR=0.85;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816281;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|PLEK|PLEK|transcript|NM_002664.2|protein_coding|3/9|c.291G>T|p.Lys97Asn|453/2852|291/1053|97/350||;p3_1000G_AA=G|||;p3_1000G_AC=2139;p3_1000G_AF=0.427117;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=22034;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.2704;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68607947;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1270,3136;ESP6500_AA_AGE=432.8+/-343.4;ESP6500_AA_GTC=193,884,1126;ESP6500_CDS_SIZES=NM_002664.2:1053;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=133;ESP6500_EA_AC=2211,6389;ESP6500_EA_AGE=376.3+/-338.1;ESP6500_EA_GTC=294,1623,2383;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002664.2:missense;ESP6500_GL=PLEK;ESP6500_GRCh38_POSITION=2:68380815;ESP6500_GS=94;ESP6500_GTC=487,2507,3509;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002664.2:c.291G>T;ESP6500_HGVS_PROTEIN_VAR=NM_002664.2:p.(K97N);ESP6500_MAF=25.7093,28.8243,26.7646;ESP6500_PH=probably-damaging:0.999;ESP6500_TAC=3481,9525	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1113,117,0
chr2	68388306	rs3217525;rs72540705	A	AG	516.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=3.383;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3217525,rs72540705;dbSNPBuildID=106,130;ANN=AG|intron_variant|MODIFIER|PLEK|PLEK|transcript|NM_002664.2|protein_coding|5/8|c.658-77dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGG|GGGG|GGGGG|insertion;p3_1000G_AC=2075;p3_1000G_AF=0.414337;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=24024;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68615438;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:51:554,51,0
chr2	68393331	rs2289688	G	A	85.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289688;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PLEK|PLEK|transcript|NM_002664.2|protein_coding|7/8|c.846+86G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2285;p3_1000G_AF=0.45627;p3_1000G_AFR_AF=0.4017;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=17485;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68620463;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:113,9,0
chr2	68395782	rs1063479	G	A	2190.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=1.134;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1063479;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|PLEK|PLEK|transcript|NM_002664.2|protein_coding|9/9|c.1019G>A|p.Arg340Lys|1181/2852|1019/1053|340/350||;p3_1000G_AA=A|||;p3_1000G_AC=4294;p3_1000G_AF=0.857428;p3_1000G_AFR_AF=0.9554;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=18760;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.7087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=68622914;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4073,333;ESP6500_AA_AGE=174.8+/-204.3;ESP6500_AA_GTC=1883,307,13;ESP6500_CDS_SIZES=NM_002664.2:1053;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=100;ESP6500_EA_AC=6232,2368;ESP6500_EA_AGE=394.4+/-344.7;ESP6500_EA_GTC=2274,1684,342;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002664.2:missense;ESP6500_GL=PLEK;ESP6500_GRCh38_POSITION=2:68395782;ESP6500_GS=26;ESP6500_GTC=4157,1991,355;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002664.2:c.1019G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002664.2:p.(R340K);ESP6500_MAF=27.5349,7.5579,20.7673;ESP6500_PH=benign:0.0;ESP6500_TAC=10305,2701	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2219,222,0
chr2	68528748	rs201082060	G	C	34.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.177;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=4.218;MLEAC=1;MLEAF=0.5;MQ=32.77;MQRankSum=-0.655;QD=1.02;ReadPosRankSum=-0.85;SOR=1.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201082060;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|APLF|APLF|transcript|NM_173545.2|protein_coding|6/9|c.804+2506G>C||||||	GT:AD:DP:GQ:PL	0/1:29,5:34:63:63,0,855
chr2	68813368	rs2280310	G	A	1206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.635;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=0.785;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.031;SOR=0.78;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280310;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|ARHGAP25|ARHGAP25|transcript|NM_001007231.2|protein_coding|6/11|c.756G>A|p.Gln252Gln|1175/2991|756/1941|252/646||,A|synonymous_variant|LOW|ARHGAP25|ARHGAP25|transcript|NM_001166277.1|protein_coding|5/10|c.636G>A|p.Gln212Gln|1055/2871|636/1821|212/606||,A|synonymous_variant|LOW|ARHGAP25|ARHGAP25|transcript|NM_001166276.1|protein_coding|5/10|c.735G>A|p.Gln245Gln|1115/2931|735/1920|245/639||,A|synonymous_variant|LOW|ARHGAP25|ARHGAP25|transcript|NM_014882.2|protein_coding|5/10|c.732G>A|p.Gln244Gln|1112/2928|732/1917|244/638||;p3_1000G_AA=G|||;p3_1000G_AC=1491;p3_1000G_AF=0.297724;p3_1000G_AFR_AF=0.2927;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=19180;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.1839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69040500;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1189,3217;ESP6500_AA_AGE=416.7+/-337.7;ESP6500_AA_GTC=153,883,1167;ESP6500_CDS_SIZES=NM_014882.2:1917,NM_001166277.1:1821,NM_001166276.1:1920,NM_001007231.2:1941;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=99;ESP6500_EA_AC=1653,6947;ESP6500_EA_AGE=305.0+/-307.2;ESP6500_EA_GTC=171,1311,2818;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014882.2:coding-synonymous,NM_001166277.1:coding-synonymous,NM_001166276.1:coding-synonymous,NM_001007231.2:coding-synonymous;ESP6500_GL=ARHGAP25;ESP6500_GRCh38_POSITION=2:68813368;ESP6500_GTC=324,2194,3985;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014882.2:c.732G>A,NM_001166277.1:c.636G>A,NM_001166276.1:c.735G>A,NM_001007231.2:c.756G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014882.2:p.(Q244),NM_001166277.1:p.(Q212),NM_001166276.1:p.(Q245),NM_001007231.2:p.(Q252);ESP6500_MAF=19.2209,26.9859,21.8515;ESP6500_TAC=2842,10164	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1235,0,1189
chr2	68816132	rs563584463;rs67399232	CT	C	783.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.978;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=1.5;SOR=1.349;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs67399232;dbSNPBuildID=137,142;ANN=C|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001007231.2|protein_coding|6/10|c.808-146delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001166277.1|protein_coding|5/9|c.688-146delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001166276.1|protein_coding|5/9|c.787-146delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_014882.2|protein_coding|5/9|c.784-146delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,23:44:99:1|0:68816118_A_G:821,0,491
chr2	68816134	rs78107572	T	A	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.942;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=1.01;SOR=0.877;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78107572;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001007231.2|protein_coding|6/10|c.808-155T>A||||||,A|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001166277.1|protein_coding|5/9|c.688-155T>A||||||,A|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001166276.1|protein_coding|5/9|c.787-155T>A||||||,A|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_014882.2|protein_coding|5/9|c.784-155T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2917;p3_1000G_AF=0.582468;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=17788;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.5219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69043266;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,20:44:99:484,0,1122
chr2	68816407	rs2271832	G	C	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.783;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.275;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271832;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001007231.2|protein_coding|7/10|c.881+45G>C||||||,C|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001166277.1|protein_coding|6/9|c.761+45G>C||||||,C|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001166276.1|protein_coding|6/9|c.860+45G>C||||||,C|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_014882.2|protein_coding|6/9|c.857+45G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2923;p3_1000G_AF=0.583666;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=18227;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69043539;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2406,2000;ESP6500_AA_AGE=614.5+/-392.4;ESP6500_AA_GTC=660,1086,457;ESP6500_CDS_SIZES=NM_014882.2:1917,NM_001166277.1:1821,NM_001166276.1:1920,NM_001007231.2:1941;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=6001,2599;ESP6500_EA_AGE=688.2+/-404.3;ESP6500_EA_GTC=2096,1809,395;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014882.2:intron,NM_001166277.1:intron,NM_001166276.1:intron,NM_001007231.2:intron;ESP6500_GL=ARHGAP25;ESP6500_GRCh38_POSITION=2:68816407;ESP6500_GTC=2756,2895,852;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014882.2:c.857+45G>C,NM_001166277.1:c.761+45G>C,NM_001166276.1:c.860+45G>C,NM_001007231.2:c.881+45G>C;ESP6500_MAF=30.2209,45.3926,35.3606;ESP6500_TAC=8407,4599	GT:AD:DP:GQ:PL	0/1:5,8:13:99:196,0,137
chr2	68822266	rs35216182	C	G	713.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.294;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.368;SOR=0.662;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35216182;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001007231.2|protein_coding|9/10|c.1201-74C>G||||||,G|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001166277.1|protein_coding|8/9|c.1081-74C>G||||||,G|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_001166276.1|protein_coding|8/9|c.1180-74C>G||||||,G|intron_variant|MODIFIER|ARHGAP25|ARHGAP25|transcript|NM_014882.2|protein_coding|8/9|c.1177-74C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1335;p3_1000G_AF=0.266573;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=18110;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69049398;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,31:56:99:742,0,615
chr2	68822807	rs4241344	G	T	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.842;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.263;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=1.24;SOR=0.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4241344;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|ARHGAP25|ARHGAP25|transcript|NM_001007231.2|protein_coding|10/11|c.1668G>T|p.Arg556Ser|2087/2991|1668/1941|556/646||,T|missense_variant|MODERATE|ARHGAP25|ARHGAP25|transcript|NM_001166277.1|protein_coding|9/10|c.1548G>T|p.Arg516Ser|1967/2871|1548/1821|516/606||,T|missense_variant|MODERATE|ARHGAP25|ARHGAP25|transcript|NM_001166276.1|protein_coding|9/10|c.1647G>T|p.Arg549Ser|2027/2931|1647/1920|549/639||,T|missense_variant|MODERATE|ARHGAP25|ARHGAP25|transcript|NM_014882.2|protein_coding|9/10|c.1644G>T|p.Arg548Ser|2024/2928|1644/1917|548/638||;p3_1000G_AA=G|||;p3_1000G_AC=1332;p3_1000G_AF=0.265974;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=20655;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69049939;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=758,3646;ESP6500_AA_AGE=286.0+/-278.5;ESP6500_AA_GTC=53,652,1497;ESP6500_CDS_SIZES=NM_014882.2:1917,NM_001166277.1:1821,NM_001166276.1:1920,NM_001007231.2:1941;ESP6500_CG=3.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=75;ESP6500_EA_AC=1644,6956;ESP6500_EA_AGE=282.4+/-295.5;ESP6500_EA_GTC=170,1304,2826;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014882.2:missense,NM_001166277.1:missense,NM_001166276.1:missense,NM_001007231.2:missense;ESP6500_GL=ARHGAP25;ESP6500_GRCh38_POSITION=2:68822807;ESP6500_GS=110,110,110,110;ESP6500_GTC=223,1956,4323;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_014882.2:c.1644G>T,NM_001166277.1:c.1548G>T,NM_001166276.1:c.1647G>T,NM_001007231.2:c.1668G>T;ESP6500_HGVS_PROTEIN_VAR=NM_014882.2:p.(R548S),NM_001166277.1:p.(R516S),NM_001166276.1:p.(R549S),NM_001007231.2:p.(R556S);ESP6500_MAF=19.1163,17.2116,18.4712;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=2402,10602	GT:AD:DP:GQ:PL	0/1:18,26:44:99:678,0,483
chr2	68946438	rs1128272	C	T	567.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.902;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=8.091;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.637;SOR=2.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1128272;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|GKN2|GKN2|transcript|NM_182536.2|protein_coding|5/6|c.338G>A|p.Ser113Asn|447/800|338/555|113/184||;p3_1000G_AA=T|||;p3_1000G_AC=1568;p3_1000G_AF=0.313099;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=20062;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69173570;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1931,2475;ESP6500_AA_AGE=623.6+/-394.2;ESP6500_AA_GTC=418,1095,690;ESP6500_CDS_SIZES=NM_182536.2:555;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=155;ESP6500_EA_AC=804,7796;ESP6500_EA_AGE=783.1+/-407.6;ESP6500_EA_GTC=51,702,3547;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182536.2:missense;ESP6500_GL=GKN2;ESP6500_GRCh38_POSITION=2:68946438;ESP6500_GS=46;ESP6500_GTC=469,1797,4237;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182536.2:c.338G>A;ESP6500_HGVS_PROTEIN_VAR=NM_182536.2:p.(S113N);ESP6500_MAF=9.3488,43.8266,21.0288;ESP6500_PH=benign:0.0;ESP6500_TAC=2735,10271	GT:AD:DP:GQ:PL	0/1:19,20:39:99:596,0,544
chr2	68953029	rs7561266	T	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=1.41;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7561266;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|GKN2|GKN2|transcript|NM_182536.2|protein_coding||c.-168A>T|||||59|,A|intergenic_region|MODIFIER|GKN2-GKN1|GKN2-GKN1|intergenic_region|GKN2-GKN1|||n.68953029T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3082;p3_1000G_AF=0.615415;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=20445;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69180161;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:80:237,0,80
chr2	68974762	rs4417751	C	T	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.838;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.733;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4417751;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|GKN1|GKN1|transcript|NM_019617.3|protein_coding|1/5|c.54+73C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3308;p3_1000G_AF=0.660543;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=18981;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.6113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69201894;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6084;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=955,429;ESP6500_AA_GTC=329,297,66;ESP6500_CDS_SIZES=NM_019617.3:600;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=81;ESP6500_EA_AC=1920,1262;ESP6500_EA_GTC=591,738,262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019617.3:intron;ESP6500_GL=GKN1;ESP6500_GRCh38_POSITION=2:68974762;ESP6500_GTC=920,1035,328;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019617.3:c.54+73C>T;ESP6500_MAF=39.6606,30.9971,37.0346;ESP6500_TAC=2875,1691	GT:AD:DP:GQ:PL	0/1:16,12:28:99:350,0,459
chr2	68974850	rs4430980	T	C	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=1.04;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4430980;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|GKN1|GKN1|transcript|NM_019617.3|protein_coding|1/5|c.54+161T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3379;p3_1000G_AF=0.67472;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=16286;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69201982;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:72:72,0,93
chr2	68977497	rs35624281	T	C	813.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.25;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=9.454;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.817;SOR=1.931;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35624281;dbSNPBuildID=126;ANN=C|splice_region_variant&synonymous_variant|LOW|GKN1|GKN1|transcript|NM_019617.3|protein_coding|2/6|c.57T>C|p.Ile19Ile|120/820|57/600|19/199||;p3_1000G_AA=T|||;p3_1000G_AC=674;p3_1000G_AF=0.134585;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=19283;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.0437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69204629;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=324,4082;ESP6500_AA_AGE=170.9+/-201.2;ESP6500_AA_GTC=9,306,1888;ESP6500_CDS_SIZES=NM_019617.3:600;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=193;ESP6500_EA_AC=323,8277;ESP6500_EA_AGE=114.0+/-174.0;ESP6500_EA_GTC=11,301,3988;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019617.3:coding-synonymous;ESP6500_GL=GKN1;ESP6500_GRCh38_POSITION=2:68977497;ESP6500_GTC=20,607,5876;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_019617.3:c.57T>C;ESP6500_HGVS_PROTEIN_VAR=NM_019617.3:p.(I19);ESP6500_MAF=3.7558,7.3536,4.9746;ESP6500_TAC=647,12359	GT:AD:DP:GQ:PL	0/1:38,28:66:99:842,0,915
chr2	68977539	rs9808077	A	T	811.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.218;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=4.51;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=0.164;SOR=1.24;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9808077;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|GKN1|GKN1|transcript|NM_019617.3|protein_coding|2/6|c.99A>T|p.Leu33Leu|162/820|99/600|33/199||;p3_1000G_AA=T|||;p3_1000G_AC=1429;p3_1000G_AF=0.285343;p3_1000G_AFR_AF=0.4062;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=19096;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.0954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69204671;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1562,2844;ESP6500_AA_AGE=669.1+/-402.1;ESP6500_AA_GTC=269,1024,910;ESP6500_CDS_SIZES=NM_019617.3:600;ESP6500_CG=2.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=171;ESP6500_EA_AC=742,7858;ESP6500_EA_AGE=785.4+/-407.6;ESP6500_EA_GTC=46,650,3604;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019617.3:coding-synonymous;ESP6500_GL=GKN1;ESP6500_GRCh38_POSITION=2:68977539;ESP6500_GTC=315,1674,4514;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_019617.3:c.99A>T;ESP6500_HGVS_PROTEIN_VAR=NM_019617.3:p.(L33);ESP6500_MAF=8.6279,35.4517,17.7149;ESP6500_TAC=2304,10702	GT:AD:DP:GQ:PL	0/1:47,34:81:99:840,0,1250
chr2	68977891	rs146210841;rs78581873	TAC	T	157.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=-0.921;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs78581873,rs146210841;dbSNPBuildID=134,131;ANN=T|intron_variant|MODIFIER|GKN1|GKN1|transcript|NM_019617.3|protein_coding|3/5|c.246+119_246+120delCA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1063;p3_1000G_AF=0.21226;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=20479;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69205023;p3_1000G_GRCH37_REF=TAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,5:10:99:195,0,204
chr2	68977911	rs62133353	A	C	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.405;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62133353;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|GKN1|GKN1|transcript|NM_019617.3|protein_coding|3/5|c.246+137A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1178;p3_1000G_AF=0.235224;p3_1000G_AFR_AF=0.3374;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=19457;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69205043;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:147,0,123
chr2	68977935	rs62133354	T	C	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.545;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62133354;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|GKN1|GKN1|transcript|NM_019617.3|protein_coding|3/5|c.246+161T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1178;p3_1000G_AF=0.235224;p3_1000G_AFR_AF=0.3374;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=19359;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69205067;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:139,0,135
chr2	68978810	rs13424275	C	T	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.305;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-0.564;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13424275;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|GKN1|GKN1|transcript|NM_019617.3|protein_coding|3/5|c.247-61C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1167;p3_1000G_AF=0.233027;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=18792;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69205942;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,10:30:99:249,0,567
chr2	69072955	rs57008189	G	C	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.145;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=0.498;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57008189;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|5/17|c.413-67G>C||||||,C|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_018153.3|protein_coding|5/12|c.413-67G>C||||||,C|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_053034.2|protein_coding|5/14|c.413-67G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=763;p3_1000G_AF=0.152356;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=18329;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69300087;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1462;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,12:21:99:0|1:69072955_G_C:477,0,1080
chr2	69072956	rs67110959	GGAC	G	439.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.583;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.94;ReadPosRankSum=0.462;SOR=0.375;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs67110959;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|5/17|c.413-65_413-63delGAC||||||,G|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_018153.3|protein_coding|5/12|c.413-65_413-63delGAC||||||,G|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_053034.2|protein_coding|5/14|c.413-65_413-63delGAC||||||;p3_1000G_AC=608;p3_1000G_AF=0.121406;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=18597;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69300088;p3_1000G_GRCH37_REF=GGAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,12:21:99:0|1:69072955_G_C:477,0,1080
chr2	69072961	rs548701918	G	A	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.456;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.37;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|5/17|c.413-61G>A||||||,A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_018153.3|protein_coding|5/12|c.413-61G>A||||||,A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_053034.2|protein_coding|5/14|c.413-61G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=608;p3_1000G_AF=0.121406;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=18195;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69300093;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,12:21:99:0|1:69072955_G_C:477,0,1080
chr2	69073111	rs10202939	G	A	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.439;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=-0.615;SOR=0.098;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10202939;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|6/17|c.492+10G>A||||||,A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_018153.3|protein_coding|6/12|c.492+10G>A||||||,A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_053034.2|protein_coding|6/14|c.492+10G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=767;p3_1000G_AF=0.153155;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=16449;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.1034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69300243;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=681,3725;ESP6500_AA_AGE=288.4+/-279.8;ESP6500_AA_GTC=42,597,1564;ESP6500_CDS_SIZES=NM_053034.2:1107,NM_032208.2:1695,NM_018153.3:1002;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=130;ESP6500_EA_AC=841,7759;ESP6500_EA_AGE=192.3+/-238.3;ESP6500_EA_GTC=44,753,3503;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053034.2:intron,NM_032208.2:intron,NM_018153.3:intron;ESP6500_GL=ANTXR1;ESP6500_GRCh38_POSITION=2:69073111;ESP6500_GTC=86,1350,5067;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_053034.2:c.492+10G>A,NM_032208.2:c.492+10G>A,NM_018153.3:c.492+10G>A;ESP6500_MAF=9.7791,15.4562,11.7023;ESP6500_TAC=1522,11484	GT:AD:DP:GQ:PL	0/1:6,11:17:99:322,0,194
chr2	69077587	rs7424907	T	C	529.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.76;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.62;ReadPosRankSum=-0.982;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7424907;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|8/17|c.642+99T>C||||||,C|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_018153.3|protein_coding|8/12|c.642+99T>C||||||,C|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_053034.2|protein_coding|8/14|c.642+99T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=789;p3_1000G_AF=0.157548;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=21377;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69304719;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,15:27:99:558,0,377
chr2	69090793	rs4854546	G	A	255.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.42;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4854546;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|8/17|c.643-66G>A||||||,A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_018153.3|protein_coding|8/12|c.643-66G>A||||||,A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_053034.2|protein_coding|8/14|c.643-66G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4722;p3_1000G_AF=0.942891;p3_1000G_AFR_AF=0.9834;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=18147;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.8956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69317925;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1330,54;ESP6500_AA_GTC=642,46,4;ESP6500_CDS_SIZES=NM_053034.2:1107,NM_032208.2:1695,NM_018153.3:1002;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=62;ESP6500_EA_AC=2854,328;ESP6500_EA_GTC=1279,296,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_053034.2:intron,NM_032208.2:intron,NM_018153.3:intron;ESP6500_GL=ANTXR1;ESP6500_GRCh38_POSITION=2:69090793;ESP6500_GTC=1921,342,20;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_053034.2:c.643-66G>A,NM_032208.2:c.643-66G>A,NM_018153.3:c.643-66G>A;ESP6500_MAF=10.308,3.9017,8.3662;ESP6500_TAC=4184,382	GT:AD:DP:GQ:PL	1/1:0,9:9:27:284,27,0
chr2	69090997	rs4241348	T	G	490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.64;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4241348;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|9/17|c.703+78T>G||||||,G|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_018153.3|protein_coding|9/12|c.703+78T>G||||||,G|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_053034.2|protein_coding|9/14|c.703+78T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4769;p3_1000G_AF=0.952276;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=17109;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69318129;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:519,42,0
chr2	69181897	rs6749826;262019	C	A	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.163;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=6.082;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-0.813;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6749826;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|15/17|c.1185+16C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2947;p3_1000G_AF=0.588458;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=21597;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.4374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69409029;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2149,2257;ESP6500_AA_AGE=597.8+/-388.9;ESP6500_AA_GTC=525,1099,579;ESP6500_CDS_SIZES=NM_032208.2:1695;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=72;ESP6500_EA_AC=3725,4875;ESP6500_EA_AGE=617.9+/-396.7;ESP6500_EA_GTC=810,2105,1385;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032208.2:intron;ESP6500_GL=ANTXR1;ESP6500_GRCh38_POSITION=2:69181897;ESP6500_GTC=1335,3204,1964;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_032208.2:c.1185+16C>A;ESP6500_MAF=43.314,48.7744,45.1638;ESP6500_TAC=5874,7132;CLINVAR_AF_ESP=0.4516;CLINVAR_AF_EXAC=0.48321;CLINVAR_ALLELEID=250760;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.69181897C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ANTXR1:84168;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6749826	GT:AD:DP:GQ:PL	0/1:20,10:30:99:232,0,543
chr2	69193461	rs76087957	A	T	461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.121;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.882;MLEAC=1;MLEAF=0.5;MQ=59.45;MQRankSum=-0.929;QD=16.49;ReadPosRankSum=-0.694;SOR=0.229;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76087957;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|17/17|c.1434+46A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1957;p3_1000G_AF=0.390775;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=16643;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69420593;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,14:28:99:490,0,685
chr2	69193464	rs7584057	T	C	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.139;MLEAC=1;MLEAF=0.5;MQ=59.36;MQRankSum=-0.746;QD=24.36;ReadPosRankSum=-0.521;SOR=0.129;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7584057;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ANTXR1|ANTXR1|transcript|NM_032208.2|protein_coding|17/17|c.1434+49T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3566;p3_1000G_AF=0.712061;p3_1000G_AFR_AF=0.8722;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=16870;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.4851;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69420596;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2974,1432;ESP6500_AA_GTC=1360,254,589;ESP6500_CDS_SIZES=NM_032208.2:1695;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=2623,5977;ESP6500_EA_GTC=859,905,2536;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032208.2:intron;ESP6500_GL=ANTXR1;ESP6500_GRCh38_POSITION=2:69193464;ESP6500_GTC=2219,1159,3125;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032208.2:c.1434+49T>C;ESP6500_MAF=30.5,32.5011,43.034;ESP6500_TAC=5597,7409	GT:AD:DP:GQ:PL	0/1:8,11:19:99:491,0,683
chr2	69326243	rs201330278;336873	GA	G	197.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-1.002;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201330278;dbSNPBuildID=136;ANN=G|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_001244710.1|protein_coding|19/19|c.2056-11delT||||||,G|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_002056.3|protein_coding|18/18|c.2002-11delT||||||;CLINVAR_ALLELEID=290634;CLINVAR_CLNDISDB=MedGen:CN239337;CLINVAR_CLNDN=Congenital_Myasthenic_Syndrome,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.69326244delA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560207;CLINVAR_GENEINFO=GFPT1:2673;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=201330278	GT:AD:DP:GQ:PL	0/1:5,12:17:82:235,0,82
chr2	69345897	rs6722492;129151	T	C	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.99;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.493;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6722492;dbSNPBuildID=116;ANN=C|splice_region_variant&intron_variant|LOW|GFPT1|GFPT1|transcript|NM_001244710.1|protein_coding|12/19|c.1105+7A>G||||||,C|splice_region_variant&intron_variant|LOW|GFPT1|GFPT1|transcript|NM_002056.3|protein_coding|11/18|c.1051+7A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3241;p3_1000G_AF=0.647165;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=17345;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69573029;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3715,689;ESP6500_AA_AGE=761.3+/-413.0;ESP6500_AA_GTC=1575,565,62;ESP6500_CDS_SIZES=NM_002056.3:2046,NM_001244710.1:2100;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=85;ESP6500_EA_AC=5068,3532;ESP6500_EA_AGE=630.2+/-398.3;ESP6500_EA_GTC=1531,2006,763;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002056.3:intron,NM_001244710.1:intron;ESP6500_GL=GFPT1;ESP6500_GRCh38_POSITION=2:69345897;ESP6500_GTC=3106,2571,825;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002056.3:c.1051+7A>G,NM_001244710.1:c.1105+7A>G;ESP6500_MAF=41.0698,15.6449,32.4592;ESP6500_TAC=8783,4221;CLINVAR_ALLELEID=134597;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239337;CLINVAR_CLNDN=not_specified|Congenital_Myasthenic_Syndrome,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.69345897T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25186;CLINVAR_GENEINFO=GFPT1:2673;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6722492	GT:AD:DP:GQ:PL	0/1:13,13:26:99:355,0,278
chr2	69359137	rs187748319	C	T	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.119;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-1.86;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187748319;dbSNPBuildID=135;ANN=T|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_001244710.1|protein_coding|5/19|c.408+131G>A||||||,T|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_002056.3|protein_coding|5/18|c.408+131G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=10;p3_1000G_AF=0.00199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18179;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69586269;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,11:26:99:0|1:69359137_C_T:396,0,657
chr2	69359161	rs6546505	A	C	460.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.46;ReadPosRankSum=0.285;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6546505;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_001244710.1|protein_coding|5/19|c.408+107T>G||||||,C|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_002056.3|protein_coding|5/18|c.408+107T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3240;p3_1000G_AF=0.646965;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=17524;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.5924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69586293;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,13:28:99:0|1:69359137_C_T:489,0,650
chr2	69359238	rs67760762;258543	A	G	713.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=3.005;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=-0.276;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67760762;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_001244710.1|protein_coding|5/19|c.408+30T>C||||||,G|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_002056.3|protein_coding|5/18|c.408+30T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1222;p3_1000G_AF=0.24401;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=16433;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.4095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69586370;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=394,4012;ESP6500_AA_AGE=193.3+/-218.5;ESP6500_AA_GTC=14,366,1823;ESP6500_CDS_SIZES=NM_002056.3:2046,NM_001244710.1:2100;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=67;ESP6500_EA_AC=3636,4964;ESP6500_EA_AGE=523.1+/-380.3;ESP6500_EA_GTC=804,2028,1468;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002056.3:intron,NM_001244710.1:intron;ESP6500_GL=GFPT1;ESP6500_GRCh38_POSITION=2:69359238;ESP6500_GTC=818,2394,3291;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002056.3:c.408+30T>C,NM_001244710.1:c.408+30T>C;ESP6500_MAF=42.2791,8.9424,30.9857;ESP6500_TAC=4030,8976;CLINVAR_AF_ESP=0.3099;CLINVAR_AF_EXAC=0.36547;CLINVAR_AF_TGP=0.2440;CLINVAR_ALLELEID=250762;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.69359238A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GFPT1:2673;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=67760762	GT:AD:DP:GQ:PL	0/1:13,27:40:99:742,0,248
chr2	69387029	rs6720415;258544	A	G	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.509;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=-2.32;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6720415;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_001244710.1|protein_coding|1/19|c.7+36T>C||||||,G|intron_variant|MODIFIER|GFPT1|GFPT1|transcript|NM_002056.3|protein_coding|1/18|c.7+36T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3288;p3_1000G_AF=0.65655;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=8534;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.5974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69614161;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2913,471;ESP6500_AA_GTC=1302,309,81;ESP6500_CDS_SIZES=NM_002056.3:2046,NM_001244710.1:2100;ESP6500_CG=1.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=3;ESP6500_EA_AC=4415,2791;ESP6500_EA_GTC=1499,1417,687;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002056.3:intron,NM_001244710.1:intron;ESP6500_GL=GFPT1;ESP6500_GRCh38_POSITION=2:69387029;ESP6500_GTC=2801,1726,768;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002056.3:c.7+36T>C,NM_001244710.1:c.7+36T>C;ESP6500_MAF=38.7316,13.9184,30.8026;ESP6500_TAC=7328,3262;CLINVAR_ALLELEID=250765;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.69387029A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GFPT1:2673;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6720415	GT:AD:DP:GQ:PL	0/1:22,12:34:99:224,0,501
chr2	69406250	rs6546513	A	T	70.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6546513;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|NFU1|NFU1|transcript|NM_001002755.2|protein_coding|5/7|c.485-168T>A||||||,T|intron_variant|MODIFIER|NFU1|NFU1|transcript|NM_001002756.2|protein_coding|4/6|c.62-168T>A||||||,T|intron_variant|MODIFIER|NFU1|NFU1|transcript|NM_015700.3|protein_coding|5/7|c.413-168T>A||||||,T|intron_variant|MODIFIER|NFU1|NFU1|transcript|NR_045631.1|pseudogene|4/6|n.555-168T>A||||||,T|intron_variant|MODIFIER|NFU1|NFU1|transcript|NR_045632.1|pseudogene|4/5|n.555-168T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3329;p3_1000G_AF=0.664736;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=18581;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.5994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69633382;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:24:99,0,24
chr2	69430217	rs113587680	CT	C	163.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.058;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.985;SOR=0.412;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs113587680;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|NFU1|NFU1|transcript|NM_001002755.2|protein_coding|2/7|c.166+1684delA||||||,C|intron_variant|MODIFIER|NFU1|NFU1|transcript|NM_001002756.2|protein_coding|2/6|c.-122+1684delA||||||,C|intron_variant|MODIFIER|NFU1|NFU1|transcript|NM_015700.3|protein_coding|2/7|c.94+1684delA||||||,C|intron_variant|MODIFIER|NFU1|NFU1|transcript|NR_045631.1|pseudogene|2/6|n.372+1684delA||||||,C|intron_variant|MODIFIER|NFU1|NFU1|transcript|NR_045632.1|pseudogene|2/5|n.372+1684delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3269;p3_1000G_AF=0.652756;p3_1000G_AFR_AF=0.8533;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=17977;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69657349;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,10:16:99:201,0,111
chr2	69431994	rs4453725;138516	A	T	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.465;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.291;SOR=0.87;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4453725;dbSNPBuildID=111;ANN=T|start_lost|HIGH|NFU1|NFU1|transcript|NM_015700.3|protein_coding|2/8|c.2T>A|p.Met1?|370/1194|2/693|1/230||,T|missense_variant|MODERATE|NFU1|NFU1|transcript|NM_001002755.2|protein_coding|2/8|c.74T>A|p.Met25Lys|280/1104|74/765|25/254||,T|5_prime_UTR_variant|MODIFIER|NFU1|NFU1|transcript|NM_001002756.2|protein_coding|2/7|c.-214T>A|||||16749|,T|non_coding_transcript_exon_variant|MODIFIER|NFU1|NFU1|transcript|NR_045631.1|pseudogene|2/7|n.280T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|NFU1|NFU1|transcript|NR_045632.1|pseudogene|2/6|n.280T>A||||||;LOF=(NFU1|NFU1|5|0.20);p3_1000G_AA=a|||;p3_1000G_AC=1588;p3_1000G_AF=0.317093;p3_1000G_AFR_AF=0.2526;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=16119;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.4185;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69659126;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1235,3171;ESP6500_AA_AGE=425.5+/-340.8;ESP6500_AA_GTC=158,919,1126;ESP6500_CDS_SIZES=NM_015700.3:693,NM_001002756.2:342,NM_001002755.2:765;ESP6500_CG=3.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=109;ESP6500_EA_AC=3671,4929;ESP6500_EA_AGE=526.5+/-381.0;ESP6500_EA_GTC=815,2041,1444;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015700.3:missense,NM_001002756.2:utr-5,NM_001002755.2:missense;ESP6500_GL=NFU1;ESP6500_GRCh38_POSITION=2:69431994;ESP6500_GS=95,.,95;ESP6500_GTC=973,2960,2570;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015700.3:c.2T>A,NM_001002756.2:c.-16749T>A,NM_001002755.2:c.74T>A;ESP6500_HGVS_PROTEIN_VAR=NM_015700.3:p.(M1K),.,NM_001002755.2:p.(M25K);ESP6500_MAF=42.686,28.03,37.7211;ESP6500_PH=benign:0.039,.,benign:0.039;ESP6500_TAC=4906,8100;CLINVAR_AF_ESP=0.3772;CLINVAR_AF_EXAC=0.39284;CLINVAR_AF_TGP=0.3171;CLINVAR_ALLELEID=142219;CLINVAR_CLNDISDB=MedGen:C3502075|MedGen:CN169374;CLINVAR_CLNDN=Multiple_mitochondrial_dysfunctions_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.69431994A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25203|UniProtKB_(protein):Q9UMS0#VAR_044429;CLINVAR_GENEINFO=NFU1:27247;CLINVAR_MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4453725	GT:AD:DP:GQ:PL	0/1:11,14:25:99:337,0,268
chr2	69461595	rs201581559	AT	A	112.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.281;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=-0.455;SOR=0.76;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201581559;dbSNPBuildID=137;ANN=A|3_prime_UTR_variant|MODIFIER|AAK1|AAK1|transcript|NM_014911.3|protein_coding|22/22|c.*14273delA|||||14273|	GT:AD:DP:GQ:PL	0/1:8,9:17:99:150,0,161
chr2	69465874	rs9309428	C	T	910.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.216;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.735;SOR=0.749;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9309428;dbSNPBuildID=119;ANN=T|3_prime_UTR_variant|MODIFIER|AAK1|AAK1|transcript|NM_014911.3|protein_coding|22/22|c.*9995G>A|||||9995|;p3_1000G_AA=C|||;p3_1000G_AC=1555;p3_1000G_AF=0.310503;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=19094;p3_1000G_EAS_AF=0.2153;p3_1000G_EUR_AF=0.4364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69693006;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=427,957;ESP6500_AA_GTC=57,313,322;ESP6500_CDS_SIZES=NM_014911.3:2886;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=86;ESP6500_EA_AC=1394,1788;ESP6500_EA_GTC=319,756,516;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014911.3:utr-3;ESP6500_GL=AAK1;ESP6500_GRCh38_POSITION=2:69465874;ESP6500_GTC=376,1069,838;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014911.3:c.*9995G>A;ESP6500_MAF=43.8089,30.8526,39.8817;ESP6500_TAC=1821,2745	GT:AD:DP:GQ:PL	0/1:24,35:59:99:939,0,683
chr2	69514477	rs2276689	C	T	406.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.304;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=0.497;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276689;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|AAK1|AAK1|transcript|NM_014911.3|protein_coding|13/22|c.1770G>A|p.Glu590Glu|2275/21265|1770/2886|590/961||;p3_1000G_AA=C|||;p3_1000G_AC=1609;p3_1000G_AF=0.321286;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=17194;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.3867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69741609;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=407,3515;ESP6500_AA_GTC=31,345,1585;ESP6500_CDS_SIZES=NM_014911.3:2886;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=11;ESP6500_EA_AC=2665,4979;ESP6500_EA_GTC=458,1749,1615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014911.3:coding-synonymous;ESP6500_GL=AAK1;ESP6500_GRCh38_POSITION=2:69514477;ESP6500_GTC=489,2094,3200;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014911.3:c.1770G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014911.3:p.(E590);ESP6500_MAF=34.8639,10.3774,26.5606;ESP6500_TAC=3072,8494	GT:AD:DP:GQ:PL	0/1:9,15:24:99:435,0,232
chr2	69514621	rs3832159;rs66931661	CTGT	C	336.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.16;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.078;SOR=0.804;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3832159,rs66931661;dbSNPBuildID=107,130;ANN=C|disruptive_inframe_deletion|MODERATE|AAK1|AAK1|transcript|NM_014911.3|protein_coding|13/22|c.1623_1625delACA|p.Gln542del|2130/21265|1623/2886|541/961||;p3_1000G_AC=1782;p3_1000G_AF=0.355831;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=19080;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69741753;p3_1000G_GRCH37_REF=CTGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=INDEL;ESP6500_AA_AC=952,3280;ESP6500_AA_GTC=126,700,1290;ESP6500_CDS_SIZES=NM_014911.3:2886;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=34;ESP6500_EA_AC=3317,4915;ESP6500_EA_GTC=696,1925,1495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014911.3:coding;ESP6500_GL=AAK1;ESP6500_GRCh38_POSITION=2:69514621;ESP6500_GTC=822,2625,2785;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014911.3:c.1623_1625del3;ESP6500_HGVS_PROTEIN_VAR=NM_014911.3:p.(Q541_Q542delinsQ);ESP6500_MAF=40.294,22.4953,34.2506;ESP6500_TAC=4269,8195	GT:AD:DP:GQ:PL	0/1:20,12:32:99:374,0,892
chr2	69514722	rs6715776	T	G	1106.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.23;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6715776;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|AAK1|AAK1|transcript|NM_014911.3|protein_coding|13/22|c.1525A>C|p.Lys509Gln|2030/21265|1525/2886|509/961||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21206;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69741854;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1135,87,0
chr2	69544352	rs3771544	C	T	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.911;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.942;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771544;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|AAK1|AAK1|transcript|NM_014911.3|protein_coding|4/21|c.391+84G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2973;p3_1000G_AF=0.59365;p3_1000G_AFR_AF=0.6104;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=23520;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.3887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=69771484;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,15:32:99:405,0,557
chr2	69837507	.	G	C	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.189;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|GMCL1|GMCL1|transcript|NM_178439.4|protein_coding|1/13|c.261-40G>C||||||	GT:AD:DP:GQ:PL	0/1:3,3:6:59:74,0,59
chr2	69904188	rs1372677810;rs72540719;~rs35836496	GT	G	93.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.65;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=0.555;SOR=3.477;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72540719;dbSNPBuildID=151,130;ANN=G|intron_variant|MODIFIER|SNRNP27|SNRNP27|transcript|NM_006857.2|protein_coding|5/5|c.414-55delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|SNRNP27|SNRNP27|transcript|NR_037862.1|pseudogene|5/6|n.456-55delT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=1657,284,43,2244;ESP6500_AA_GTC=229,59,20,1120,6,2,211,1,19,447;ESP6500_CDS_SIZES=NM_006857.2:468,NM_006857.2:468,NM_006857.2:468;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=25;ESP6500_EA_AC=1819,738,37,5656;ESP6500_EA_GTC=120,21,20,1538,8,0,701,1,15,1701;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006857.2:intron,NM_006857.2:intron,NM_006857.2:intron;ESP6500_GL=SNRNP27;ESP6500_GRCh38_POSITION=2:69904188;ESP6500_GTC=349,80,40,2658,14,2,912,2,34,2148;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_006857.2:c.414-66_414-65insTT,NM_006857.2:c.414-65del1,NM_006857.2:c.414-66_414-65insT;ESP6500_MAF=31.4424,46.9253,36.6886;ESP6500_TAC=3476,1022,80,7900	GT:AD:DP:GQ:PL	0/1:7,6:13:99:131,0,154
chr2	69936965	rs142032315	A	AG	398.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.371;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.912;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.398;SOR=0.328;INS;HET;VARTYPE=INS;dbSNP138_ID=rs142032315;dbSNPBuildID=134;ANN=AG|intron_variant|MODIFIER|MXD1|MXD1|transcript|NM_002357.3|protein_coding|4/5|c.319-267dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|MXD1|MXD1|transcript|NM_001202513.1|protein_coding|4/5|c.319-267dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|MXD1|MXD1|transcript|NM_001202514.1|protein_coding|3/4|c.289-267dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GGG|GGGG|insertion;p3_1000G_AC=279;p3_1000G_AF=0.0557109;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=17616;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.0795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70164097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:28,17:45:99:436,0,828
chr2	69960595	rs12464297	A	C	550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs374470014,rs12464297;dbSNPBuildID=120;ANN=C|3_prime_UTR_variant|MODIFIER|ASPRV1|ASPRV1|transcript|NM_152792.2|protein_coding|1/1|c.*62T>G|||||62|,C|downstream_gene_variant|MODIFIER|PCBP1-AS1|PCBP1-AS1|transcript|NR_033872.1|pseudogene||n.*1668T>G|||||1668|;p3_1000G_AA=C|||;p3_1000G_AC=1948;p3_1000G_AF=0.388978;p3_1000G_AFR_AF=0.6044;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=19356;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.1123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70187727;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:579,45,0
chr2	69961544	rs3796097	T	C	1303.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3796097;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|ASPRV1|ASPRV1|transcript|NM_152792.2|protein_coding|1/1|c.145A>G|p.Thr49Ala|722/2175|145/1032|49/343||,C|downstream_gene_variant|MODIFIER|PCBP1-AS1|PCBP1-AS1|transcript|NR_033872.1|pseudogene||n.*719A>G|||||719|;p3_1000G_AA=C|||;p3_1000G_AC=3496;p3_1000G_AF=0.698083;p3_1000G_AFR_AF=0.9145;p3_1000G_AMR_AF=0.7421;p3_1000G_AN=5008;p3_1000G_DP=17996;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70188676;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3733,673;ESP6500_AA_AGE=283.1+/-276.9;ESP6500_AA_GTC=1585,563,55;ESP6500_CDS_SIZES=NM_152792.2:1032;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=46;ESP6500_EA_AC=4480,4120;ESP6500_EA_AGE=560.7+/-387.6;ESP6500_EA_GTC=1171,2138,991;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152792.2:missense;ESP6500_GL=ASPRV1;ESP6500_GRCh38_POSITION=2:69961544;ESP6500_GS=58;ESP6500_GTC=2756,2701,1046;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152792.2:c.145A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152792.2:p.(T49A);ESP6500_MAF=47.907,15.2746,36.8522;ESP6500_PH=benign:0.002;ESP6500_TAC=8213,4793	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1332,114,0
chr2	70165247	rs11126263	G	A	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.508;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.56;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11126263;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|C2orf42|C2orf42|transcript|NM_017880.1|protein_coding|7/9|c.1253-55C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1169;p3_1000G_AF=0.233427;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18994;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.0726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70392379;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:157,0,140
chr2	70165688	rs17005383	G	C	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.411;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=1.21;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17005383;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|C2orf42|C2orf42|transcript|NM_017880.1|protein_coding|6/9|c.1145-53C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1169;p3_1000G_AF=0.233427;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18067;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.0726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70392820;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:150,0,183
chr2	70179784	rs4853373	A	T	50.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4853373;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|C2orf42|C2orf42|transcript|NM_017880.1|protein_coding|3/9|c.824-142T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=13709;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.2992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70406916;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3538;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:78,6,0
chr2	70227662	rs2592181	G	C	135.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.64;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2592181;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TIA1|TIA1|transcript|NM_022173.2|protein_coding|6/12|c.398+73C>G||||||,C|intron_variant|MODIFIER|TIA1|TIA1|transcript|NM_022037.2|protein_coding|5/11|c.365+73C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1381;p3_1000G_AF=0.275759;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=16038;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.3131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70454794;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:164,18,0
chr2	70230652	rs5832003	C	CA	41.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=8.38;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs200532251,rs5832003;dbSNPBuildID=135;ANN=CA|intron_variant|MODIFIER|TIA1|TIA1|transcript|NM_022173.2|protein_coding|3/12|c.222+103dupT||||||,CA|intron_variant|MODIFIER|TIA1|TIA1|transcript|NM_022037.2|protein_coding|3/11|c.222+103dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2149;p3_1000G_AF=0.429113;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=17137;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.333;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70457784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:14:79,14,0
chr2	70297284	rs77938271	T	G	24.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.41;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.18;MQRankSum=-4.297;QD=0.6;ReadPosRankSum=-0.945;SOR=0.98;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77938271;dbSNPBuildID=131;ANN=G|3_prime_UTR_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.*5A>C|||||5|,G|3_prime_UTR_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.*5A>C|||||5|,G|3_prime_UTR_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.*5A>C|||||5|,G|3_prime_UTR_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.*5A>C|||||5|,G|3_prime_UTR_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.*5A>C|||||5|,G|3_prime_UTR_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.*5A>C|||||5|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3635A>C|||||3513|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4124A>C|||||4060|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-7916A>C|||||3826|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-7916A>C|||||3826|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3635A>C|||||3513|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3666A>C|||||3513|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3635A>C|||||3513|	GT:AD:DP:GQ:PL	0/1:37,4:41:53:53,0,1020
chr2	70297312	rs78704688	C	G	18.82	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.061;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.85;MQRankSum=-5.865;QD=0.33;ReadPosRankSum=-0.564;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78704688;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.715G>C|p.Ala239Pro|749/2085|715/738|239/245||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.649G>C|p.Ala217Pro|721/2057|649/672|217/223||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.301G>C|p.Ala101Pro|1094/2430|301/324|101/107||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.301G>C|p.Ala101Pro|667/2003|301/324|101/107||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.301G>C|p.Ala101Pro|553/1889|301/324|101/107||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.394G>C|p.Ala132Pro|471/1807|394/417|132/138||,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3663G>C|||||3541|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4152G>C|||||4088|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-7944G>C|||||3854|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-7944G>C|||||3854|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3663G>C|||||3541|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3694G>C|||||3541|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3663G>C|||||3541|	GT:AD:DP:GQ:PGT:PID:PL	0/1:52,5:57:47:0|1:70297295_T_C:47,0,2252
chr2	70297345	rs770883166	G	C	60.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.819;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=3.809;MLEAC=1;MLEAF=0.5;MQ=58.75;MQRankSum=-6.4;QD=0.82;ReadPosRankSum=-0.554;SOR=1.501;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.682C>G|p.Leu228Val|716/2085|682/738|228/245||,C|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.616C>G|p.Leu206Val|688/2057|616/672|206/223||,C|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.268C>G|p.Leu90Val|1061/2430|268/324|90/107||,C|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.268C>G|p.Leu90Val|634/2003|268/324|90/107||,C|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.268C>G|p.Leu90Val|520/1889|268/324|90/107||,C|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.361C>G|p.Leu121Val|438/1807|361/417|121/138||,C|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3696C>G|||||3574|,C|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4185C>G|||||4121|,C|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-7977C>G|||||3887|,C|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-7977C>G|||||3887|,C|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3696C>G|||||3574|,C|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3727C>G|||||3574|,C|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3696C>G|||||3574|	GT:AD:DP:GQ:PGT:PID:PL	0/1:67,7:74:89:0|1:70297345_G_C:89,0,2822
chr2	70297346	rs75143374	G	A	60.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.377;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=3.809;MLEAC=1;MLEAF=0.5;MQ=58.75;MQRankSum=-6.4;QD=0.82;ReadPosRankSum=-0.545;SOR=1.501;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75143374;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.681C>T|p.His227His|715/2085|681/738|227/245||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.615C>T|p.His205His|687/2057|615/672|205/223||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.267C>T|p.His89His|1060/2430|267/324|89/107||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.267C>T|p.His89His|633/2003|267/324|89/107||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.267C>T|p.His89His|519/1889|267/324|89/107||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.360C>T|p.His120His|437/1807|360/417|120/138||,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3697C>T|||||3575|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4186C>T|||||4122|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-7978C>T|||||3888|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-7978C>T|||||3888|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3697C>T|||||3575|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3728C>T|||||3575|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3697C>T|||||3575|	GT:AD:DP:GQ:PGT:PID:PL	0/1:67,7:74:89:0|1:70297345_G_C:89,0,2822
chr2	70297376	rs753927903	A	ACAGC	141.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.82;MQRankSum=-6.471;QD=1.59;ReadPosRankSum=-1.033;SOR=0.813;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=ACAGC|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.650_651insGCTG|p.Cys217fs|684/2085|650/738|217/245||,ACAGC|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.584_585insGCTG|p.Cys195fs|656/2057|584/672|195/223||,ACAGC|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.236_237insGCTG|p.Cys79fs|1029/2430|236/324|79/107||,ACAGC|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.236_237insGCTG|p.Cys79fs|602/2003|236/324|79/107||,ACAGC|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.236_237insGCTG|p.Cys79fs|488/1889|236/324|79/107||,ACAGC|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.329_330insGCTG|p.Cys110fs|406/1807|329/417|110/138||,ACAGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3728_-3727insGCTG|||||3606|,ACAGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4217_-4216insGCTG|||||4153|,ACAGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-8009_-8008insGCTG|||||3919|,ACAGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-8009_-8008insGCTG|||||3919|,ACAGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3728_-3727insGCTG|||||3606|,ACAGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3759_-3758insGCTG|||||3606|,ACAGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3728_-3727insGCTG|||||3606|;LOF=(FAM136A|FAM136A|6|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:79,10:89:99:0|1:70297376_A_ACAGC:179,0,3325
chr2	70297379	rs761817680	ACTGT	A	129.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.88;MQRankSum=-6.668;QD=1.38;ReadPosRankSum=-0.854;SOR=0.801;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.644_647delACAG|p.Asp215fs|681/2085|644/738|215/245||,A|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.578_581delACAG|p.Asp193fs|653/2057|578/672|193/223||,A|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.230_233delACAG|p.Asp77fs|1026/2430|230/324|77/107||,A|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.230_233delACAG|p.Asp77fs|599/2003|230/324|77/107||,A|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.230_233delACAG|p.Asp77fs|485/1889|230/324|77/107||,A|frameshift_variant|HIGH|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.323_326delACAG|p.Asp108fs|403/1807|323/417|108/138||,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3734_-3731delACAG|||||3609|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4223_-4220delACAG|||||4156|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-8015_-8012delACAG|||||3922|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-8015_-8012delACAG|||||3922|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3734_-3731delACAG|||||3609|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3765_-3762delACAG|||||3609|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3734_-3731delACAG|||||3609|;LOF=(FAM136A|FAM136A|6|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:84,10:94:99:0|1:70297376_A_ACAGC:167,0,3460
chr2	70297444	rs75086964	C	G	106.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.967;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=2.472;MLEAC=1;MLEAF=0.5;MQ=58.67;MQRankSum=-5.864;QD=1.19;ReadPosRankSum=-1.521;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75086964;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.583G>C|p.Asp195His|617/2085|583/738|195/245||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.517G>C|p.Asp173His|589/2057|517/672|173/223||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.169G>C|p.Asp57His|962/2430|169/324|57/107||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.169G>C|p.Asp57His|535/2003|169/324|57/107||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.169G>C|p.Asp57His|421/1889|169/324|57/107||,G|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.262G>C|p.Asp88His|339/1807|262/417|88/138||,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3795G>C|||||3673|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4284G>C|||||4220|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-8076G>C|||||3986|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-8076G>C|||||3986|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3795G>C|||||3673|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3826G>C|||||3673|,G|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3795G>C|||||3673|	GT:AD:DP:GQ:PL	0/1:76,14:90:99:135,0,3185
chr2	70297445	rs2618235	G	A	2035.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.329;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=2.489;MLEAC=1;MLEAF=0.5;MQ=58.68;MQRankSum=5.92;QD=22.37;ReadPosRankSum=1.58;SOR=0.381;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2618235;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.582C>T|p.Asn194Asn|616/2085|582/738|194/245||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.516C>T|p.Asn172Asn|588/2057|516/672|172/223||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.168C>T|p.Asn56Asn|961/2430|168/324|56/107||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.168C>T|p.Asn56Asn|534/2003|168/324|56/107||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.168C>T|p.Asn56Asn|420/1889|168/324|56/107||,A|synonymous_variant|LOW|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.261C>T|p.Asn87Asn|338/1807|261/417|87/138||,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3796C>T|||||3674|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4285C>T|||||4221|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-8077C>T|||||3987|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-8077C>T|||||3987|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3796C>T|||||3674|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3827C>T|||||3674|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3796C>T|||||3674|;p3_1000G_AA=G|||;p3_1000G_AC=1321;p3_1000G_AF=0.263778;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=18619;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.3141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70524577;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=732,3674;ESP6500_AA_AGE=301.5+/-286.9;ESP6500_AA_GTC=64,604,1535;ESP6500_CDS_SIZES=NM_032822.2:417;ESP6500_CG=-10.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=94;ESP6500_EA_AC=2716,5884;ESP6500_EA_AGE=424.1+/-354.6;ESP6500_EA_GTC=408,1900,1992;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032822.2:coding-synonymous;ESP6500_GL=FAM136A;ESP6500_GRCh38_POSITION=2:70297445;ESP6500_GTC=472,2504,3527;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032822.2:c.261C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032822.2:p.(N87);ESP6500_MAF=31.5814,16.6137,26.5108;ESP6500_TAC=3448,9558	GT:AD:DP:GQ:PL	0/1:14,77:91:99:2064,0,357
chr2	70297474	rs79696069	G	A	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.207;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=1.322;MLEAC=1;MLEAF=0.5;MQ=58.85;MQRankSum=-5.606;QD=2.23;ReadPosRankSum=-4.466;SOR=0.997;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79696069;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|3/3|c.553C>T|p.Arg185Cys|587/2085|553/738|185/245||,A|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|3/3|c.487C>T|p.Arg163Cys|559/2057|487/672|163/223||,A|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|3/3|c.139C>T|p.Arg47Cys|932/2430|139/324|47/107||,A|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|4/4|c.139C>T|p.Arg47Cys|505/2003|139/324|47/107||,A|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|4/4|c.139C>T|p.Arg47Cys|391/1889|139/324|47/107||,A|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|3/3|c.232C>T|p.Arg78Cys|309/1807|232/417|78/138||,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3825C>T|||||3703|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4314C>T|||||4250|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-8106C>T|||||4016|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-8106C>T|||||4016|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3825C>T|||||3703|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3856C>T|||||3703|,A|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3825C>T|||||3703|	GT:AD:DP:GQ:PGT:PID:PL	0/1:66,11:77:99:0|1:70297474_G_A:200,0,2661
chr2	70297480	.	G	GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC	171.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.614;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=5.929;MLEAC=1;MLEAF=0.5;MQ=59.16;MQRankSum=-5.383;QD=2.39;ReadPosRankSum=-4.753;SOR=1.956;INS;HET;VARTYPE=INS;ANN=GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|splice_region_variant&intron_variant|LOW|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|2/2|c.550-4_550-3insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC||||||,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|splice_region_variant&intron_variant|LOW|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|2/2|c.484-4_484-3insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC||||||,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|splice_region_variant&intron_variant|LOW|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|2/2|c.136-4_136-3insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC||||||,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|splice_region_variant&intron_variant|LOW|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|3/3|c.136-4_136-3insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC||||||,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|splice_region_variant&intron_variant|LOW|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|3/3|c.136-4_136-3insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC||||||,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|splice_region_variant&intron_variant|LOW|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|2/2|c.229-4_229-3insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC||||||,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317165.1|protein_coding||c.-3832_-3831insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC|||||3710|,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317167.1|protein_coding||c.-4321_-4320insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC|||||4257|,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317168.1|protein_coding||c.-8113_-8112insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC|||||4023|,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317169.1|protein_coding||c.-8113_-8112insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC|||||4023|,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317166.1|protein_coding||c.-3832_-3831insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC|||||3710|,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_001317171.1|protein_coding||c.-3863_-3862insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC|||||3710|,GGAACTCACTGGTGACCAAAGCCTGGGATTAAGCCAGAGGAACATGGCAGAGTTTGACACACTGGTGCACCTGC|upstream_gene_variant|MODIFIER|SNRPG|SNRPG|transcript|NM_003096.3|protein_coding||c.-3832_-3831insGCAGGTGCACCAGTGTGTCAAACTCTGCCATGTTCCTCTGGCTTAATCCCAGGCTTTGGTCACCAGTGAGTTC|||||3710|	GT:AD:DP:GQ:PGT:PID:PL	0/1:63,9:72:99:0|1:70297474_G_A:209,0,2593
chr2	70301402	.	G	T	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.552;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.382;SOR=0.191;SNP;HET;VARTYPE=SNP;ANN=T|splice_region_variant&intron_variant|LOW|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|2/3|c.-7+6C>A||||||,T|5_prime_UTR_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|2/3|c.-428C>A|||||428|,T|intron_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|1/2|c.408+202C>A||||||,T|intron_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|1/2|c.342+268C>A||||||,T|intron_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|2/3|c.-7+120C>A||||||,T|intron_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|1/2|c.88-422C>A||||||	GT:AD:DP:GQ:PL	0/1:17,14:31:99:369,0,439
chr2	70301695	rs2279159	G	A	1279.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=1.154;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2279159;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding|1/3|c.317C>T|p.Pro106Leu|351/2085|317/738|106/245||,A|missense_variant|MODERATE|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding|1/3|c.317C>T|p.Pro106Leu|389/2057|317/672|106/223||,A|intron_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding|1/2|c.-629-92C>T||||||,A|intron_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding|1/3|c.-202-92C>T||||||,A|intron_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding|1/3|c.-88-92C>T||||||,A|intron_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding|1/2|c.87+230C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2093;p3_1000G_AF=0.417931;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=14279;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70528827;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1308,135,0
chr2	70302110	rs2952467	T	C	706.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.66;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2952467;dbSNPBuildID=101;ANN=C|upstream_gene_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329752.1|protein_coding||c.-99A>G|||||65|,C|upstream_gene_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329753.1|protein_coding||c.-99A>G|||||27|,C|upstream_gene_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329755.1|protein_coding||c.-1136A>G|||||22|,C|upstream_gene_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329757.1|protein_coding||c.-1136A>G|||||22|,C|upstream_gene_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_001329758.1|protein_coding||c.-1136A>G|||||22|,C|upstream_gene_variant|MODIFIER|FAM136A|FAM136A|transcript|NM_032822.2|protein_coding||c.-99A>G|||||22|,C|intergenic_region|MODIFIER|FAM136A-TGFA|FAM136A-TGFA|intergenic_region|FAM136A-TGFA|||n.70302110T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3011;p3_1000G_AF=0.601238;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=9564;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70529242;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:61:735,61,0
chr2	70449507	rs538118	A	G	215.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs538118;dbSNPBuildID=83;ANN=G|3_prime_UTR_variant|MODIFIER|TGFA|TGFA|transcript|NM_001308158.1|protein_coding|6/6|c.*1352T>C|||||1352|,G|3_prime_UTR_variant|MODIFIER|TGFA|TGFA|transcript|NM_001308159.1|protein_coding|6/6|c.*1352T>C|||||1352|,G|3_prime_UTR_variant|MODIFIER|TGFA|TGFA|transcript|NM_001099691.2|protein_coding|6/6|c.*1352T>C|||||1352|,G|3_prime_UTR_variant|MODIFIER|TGFA|TGFA|transcript|NM_003236.3|protein_coding|6/6|c.*1352T>C|||||1352|;p3_1000G_AA=A|||;p3_1000G_AC=1570;p3_1000G_AF=0.313498;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=16143;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.3867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70676639;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:244,21,0
chr2	70553822	rs186942988	C	G	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.778;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=2.99;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs186942988;dbSNPBuildID=135;ANN=G|5_prime_UTR_variant|MODIFIER|TGFA|TGFA|transcript|NM_001099691.2|protein_coding|1/6|c.-55G>C|||||55|,G|5_prime_UTR_variant|MODIFIER|TGFA|TGFA|transcript|NM_003236.3|protein_coding|1/6|c.-55G>C|||||55|,G|upstream_gene_variant|MODIFIER|TGFA|TGFA|transcript|NM_001308158.1|protein_coding||c.-581G>C|||||184|,G|upstream_gene_variant|MODIFIER|TGFA|TGFA|transcript|NM_001308159.1|protein_coding||c.-581G>C|||||184|;p3_1000G_AA=C|||;p3_1000G_AC=9;p3_1000G_AF=0.00179712;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=9869;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70780954;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,14:19:89:383,0,89
chr2	70767997	rs2287097	G	A	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.387;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-1.408;SOR=1.003;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287097;dbSNPBuildID=100;ANN=A|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_001617.3|protein_coding|1/16|c.-265C>T|||||61589|,A|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_017488.3|protein_coding|1/17|c.-265C>T|||||61589|,A|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_001185055.1|protein_coding|1/12|c.-98C>T|||||98|,A|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_017482.3|protein_coding|1/13|c.-265C>T|||||61589|,A|upstream_gene_variant|MODIFIER|ADD2|ADD2|transcript|NM_001185054.1|protein_coding||c.-61589C>T|||||282|;p3_1000G_AA=A|||;p3_1000G_AC=2456;p3_1000G_AF=0.490415;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=10837;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.3817;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70995129;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,10:23:99:193,0,305
chr2	70768085	rs2287098	A	T	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.619;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.72;ReadPosRankSum=-0.09;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287098;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_001617.3|protein_coding|1/16|c.-353T>A|||||61677|,T|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_017488.3|protein_coding|1/17|c.-353T>A|||||61677|,T|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_001185055.1|protein_coding|1/12|c.-186T>A|||||186|,T|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_017482.3|protein_coding|1/13|c.-353T>A|||||61677|,T|upstream_gene_variant|MODIFIER|ADD2|ADD2|transcript|NM_001185054.1|protein_coding||c.-61677T>A|||||370|;p3_1000G_AA=A|||;p3_1000G_AC=2455;p3_1000G_AF=0.490216;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=8455;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.3817;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70995217;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,2:8:66:0|1:70768085_A_T:66,0,246
chr2	70768094	rs28365917	C	A	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.619;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.72;ReadPosRankSum=0;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28365917;dbSNPBuildID=125;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|ADD2|ADD2|transcript|NM_001617.3|protein_coding|1/16|c.-362G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|ADD2|ADD2|transcript|NM_017488.3|protein_coding|1/17|c.-362G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|ADD2|ADD2|transcript|NM_001185055.1|protein_coding|1/12|c.-195G>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|ADD2|ADD2|transcript|NM_017482.3|protein_coding|1/13|c.-362G>T||||||,A|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_001617.3|protein_coding|1/16|c.-362G>T|||||61686|,A|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_017488.3|protein_coding|1/17|c.-362G>T|||||61686|,A|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_001185055.1|protein_coding|1/12|c.-195G>T|||||195|,A|5_prime_UTR_variant|MODIFIER|ADD2|ADD2|transcript|NM_017482.3|protein_coding|1/13|c.-362G>T|||||61686|,A|upstream_gene_variant|MODIFIER|ADD2|ADD2|transcript|NM_001185054.1|protein_coding||c.-61686G>T|||||379|;p3_1000G_AA=C|||;p3_1000G_AC=69;p3_1000G_AF=0.013778;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=8239;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=70995226;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,2:8:66:0|1:70768085_A_T:66,0,246
chr2	70777360	rs56316086;197699	T	C	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.876;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=1.34;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56316086;dbSNPBuildID=129;ANN=C|3_prime_UTR_variant|MODIFIER|FIGLA|FIGLA|transcript|NM_001004311.3|protein_coding|5/5|c.*7A>G|||||7|;p3_1000G_AA=T|||;p3_1000G_AC=1635;p3_1000G_AF=0.326478;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=14979;p3_1000G_EAS_AF=0.6062;p3_1000G_EUR_AF=0.2684;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71004492;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.35643;CLINVAR_AF_TGP=0.3265;CLINVAR_ALLELEID=194860;CLINVAR_CLNDISDB=MedGen:C0085215,SNOMED_CT:237788002|MedGen:CN169374;CLINVAR_CLNDN=Premature_ovarian_failure|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.70777360T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25211;CLINVAR_GENEINFO=FIGLA:344018;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56316086	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,6:11:99:0|1:70777360_T_C:237,0,281
chr2	70777362	rs56135050;197698	A	T	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.876;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.98;ReadPosRankSum=1.34;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56135050;dbSNPBuildID=129;ANN=T|3_prime_UTR_variant|MODIFIER|FIGLA|FIGLA|transcript|NM_001004311.3|protein_coding|5/5|c.*5T>A|||||5|;p3_1000G_AA=A|||;p3_1000G_AC=1635;p3_1000G_AF=0.326478;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=15016;p3_1000G_EAS_AF=0.6062;p3_1000G_EUR_AF=0.2684;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71004494;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.35695;CLINVAR_AF_TGP=0.3265;CLINVAR_ALLELEID=194859;CLINVAR_CLNDISDB=MedGen:C0085215,SNOMED_CT:237788002|MedGen:CN169374;CLINVAR_CLNDN=Premature_ovarian_failure|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.70777362A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25238;CLINVAR_GENEINFO=FIGLA:344018;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56135050	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,6:11:99:0|1:70777360_T_C:237,0,281
chr2	70785472	rs7566541;336907	G	A	1698.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.29;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7566541;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|FIGLA|FIGLA|transcript|NM_001004311.3|protein_coding|3/5|c.552C>T|p.His184His|557/722|552/660|184/219||;p3_1000G_AA=A|||;p3_1000G_AC=3995;p3_1000G_AF=0.797724;p3_1000G_AFR_AF=0.9743;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=17286;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.5905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71012604;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3780,418;ESP6500_AA_GTC=1696,388,15;ESP6500_CDS_SIZES=NM_001004311.3:660;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=248;ESP6500_EA_AC=4744,3686;ESP6500_EA_GTC=1343,2058,814;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004311.3:coding-synonymous;ESP6500_GL=FIGLA;ESP6500_GRCh38_POSITION=2:70785472;ESP6500_GTC=3039,2446,829;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001004311.3:c.552C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001004311.3:p.(H184);ESP6500_MAF=43.7248,9.9571,32.4992;ESP6500_TAC=8524,4104;CLINVAR_ALLELEID=287106;CLINVAR_CLNDISDB=MedGen:C0085215,SNOMED_CT:237788002;CLINVAR_CLNDN=Premature_ovarian_failure;CLINVAR_CLNHGVS=NC_000002.12:g.70785472G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25198;CLINVAR_GENEINFO=FIGLA:344018;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7566541	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1727,174,0
chr2	70785602	rs7566476;336909	C	G	2009.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.19;SOR=1.961;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7566476;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|FIGLA|FIGLA|transcript|NM_001004311.3|protein_coding|3/5|c.422G>C|p.Ser141Thr|427/722|422/660|141/219||;p3_1000G_AA=G|||;p3_1000G_AC=3821;p3_1000G_AF=0.762979;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=19278;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.5626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71012734;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3225,739;ESP6500_AA_GTC=1309,607,66;ESP6500_CDS_SIZES=NM_001004311.3:660;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=406;ESP6500_EA_AC=4492,3858;ESP6500_EA_GTC=1216,2060,899;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001004311.3:missense;ESP6500_GL=FIGLA;ESP6500_GRCh38_POSITION=2:70785602;ESP6500_GS=58;ESP6500_GTC=2525,2667,965;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001004311.3:c.422G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001004311.3:p.(S141T);ESP6500_MAF=46.2036,18.6428,37.3315;ESP6500_PH=benign:0.0;ESP6500_TAC=7717,4597;CLINVAR_ALLELEID=290660;CLINVAR_CLNDISDB=MedGen:C0085215,SNOMED_CT:237788002;CLINVAR_CLNDN=Premature_ovarian_failure;CLINVAR_CLNHGVS=NC_000002.12:g.70785602C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25223|UniProtKB_(protein):Q6QHK4#VAR_046778;CLINVAR_GENEINFO=FIGLA:344018;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7566476	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2038,171,0
chr2	70790384	rs12713717	A	G	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.88;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.289;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12713717;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|FIGLA|FIGLA|transcript|NM_001004311.3|protein_coding|1/4|c.231+24T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2109;p3_1000G_AF=0.421126;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=10547;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.2932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71017516;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=780,2736;ESP6500_AA_GTC=78,624,1056;ESP6500_CDS_SIZES=NM_001004311.3:660;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=5;ESP6500_EA_AC=1379,6009;ESP6500_EA_GTC=144,1091,2459;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001004311.3:intron;ESP6500_GL=FIGLA;ESP6500_GRCh38_POSITION=2:70790384;ESP6500_GTC=222,1715,3515;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001004311.3:c.231+24T>C;ESP6500_MAF=18.6654,22.1843,19.8001;ESP6500_TAC=2159,8745	GT:AD:DP:GQ:PL	0/1:6,5:11:99:144,0,174
chr2	70809350	rs2287101	T	C	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.871;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.237;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.123;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287101;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|CLEC4F|CLEC4F|transcript|NM_173535.2|protein_coding|7/7|c.1691A>G|p.Lys564Arg|1768/2473|1691/1770|564/589||,C|intron_variant|MODIFIER|CLEC4F|CLEC4F|transcript|NM_001258027.1|protein_coding|6/6|c.1659-141A>G||||||,C|intron_variant|MODIFIER|CLEC4F|CLEC4F|transcript|NM_001321308.1|protein_coding|6/6|c.1659-208A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=915;p3_1000G_AF=0.182708;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=21488;p3_1000G_EAS_AF=0.2391;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71036482;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1282,3124;ESP6500_AA_AGE=699.9+/-406.5;ESP6500_AA_GTC=184,914,1105;ESP6500_CDS_SIZES=NM_173535.2:1770,NM_001258027.1:1674;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=361,8239;ESP6500_EA_AGE=803.2+/-407.3;ESP6500_EA_GTC=12,337,3951;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173535.2:missense,NM_001258027.1:intron;ESP6500_GL=CLEC4F;ESP6500_GRCh38_POSITION=2:70809350;ESP6500_GS=26,.;ESP6500_GTC=196,1251,5056;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173535.2:c.1691A>G,NM_001258027.1:c.1659-141A>G;ESP6500_HGVS_PROTEIN_VAR=NM_173535.2:p.(K564R),.;ESP6500_MAF=4.1977,29.0967,12.6326;ESP6500_PH=benign:0.0,.;ESP6500_TAC=1643,11363	GT:AD:DP:GQ:PL	0/1:18,20:38:99:474,0,477
chr2	70831095	rs2080390	C	T	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.541;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.1;ReadPosRankSum=1.81;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2080390;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|CD207|CD207|transcript|NM_015717.4|protein_coding|6/6|c.942G>A|p.Thr314Thr|989/1872|942/987|314/328||;p3_1000G_AA=C|||;p3_1000G_AC=689;p3_1000G_AF=0.13758;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=18402;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.2197;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71058226;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=251,3645;ESP6500_AA_GTC=6,239,1703;ESP6500_CDS_SIZES=NM_015717.3:987;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=115;ESP6500_EA_AC=2068,6206;ESP6500_EA_GTC=255,1558,2324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015717.3:coding-synonymous;ESP6500_GL=CD207;ESP6500_GRCh38_POSITION=2:70831095;ESP6500_GTC=261,1797,4027;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015717.3:c.942G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015717.3:p.(T314);ESP6500_MAF=24.994,6.4425,19.0551;ESP6500_TAC=2319,9851	GT:AD:DP:GQ:PL	0/1:19,9:28:99:199,0,531
chr2	70833977	rs17662453	G	A	885.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.057;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=3.253;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.609;SOR=0.397;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17662453;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|CD207|CD207|transcript|NM_015717.4|protein_coding|3/6|c.234C>T|p.Val78Val|281/1872|234/987|78/328||;p3_1000G_AA=G|||;p3_1000G_AC=712;p3_1000G_AF=0.142173;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=19065;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.1839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71061108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=473,3465;ESP6500_AA_GTC=30,413,1526;ESP6500_CDS_SIZES=NM_015717.3:987;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=42;ESP6500_EA_AC=1789,6511;ESP6500_EA_GTC=190,1409,2551;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015717.3:coding-synonymous;ESP6500_GL=CD207;ESP6500_GRCh38_POSITION=2:70833977;ESP6500_GTC=220,1822,4077;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015717.3:c.234C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015717.3:p.(V78);ESP6500_MAF=21.5542,12.0112,18.4834;ESP6500_TAC=2262,9976	GT:AD:DP:GQ:PL	0/1:34,36:70:99:914,0,881
chr2	70900664	rs2234495	C	A	55.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2234495;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|VAX2|VAX2|transcript|NM_012476.2|protein_coding|1/3|c.43C>A|p.Arg15Arg|75/1146|43/873|15/290||;p3_1000G_AA=C|||;p3_1000G_AC=1001;p3_1000G_AF=0.19988;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=11051;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.1262;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71127794;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:22:84,0,22
chr2	70920915	rs7564382	C	T	1444.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.562;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7564382;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|VAX2|VAX2|transcript|NM_012476.2|protein_coding|1/2|c.248-183C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4120;p3_1000G_AF=0.822684;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=20267;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71148045;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1473,144,0
chr2	70933291	rs2270262	G	C	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.618;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.326;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270262;dbSNPBuildID=100;ANN=C|3_prime_UTR_variant|MODIFIER|VAX2|VAX2|transcript|NM_012476.2|protein_coding|3/3|c.*87G>C|||||87|,C|upstream_gene_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding||c.-2664G>C|||||2577|;p3_1000G_AA=G|||;p3_1000G_AC=1735;p3_1000G_AF=0.346446;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=16652;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71160421;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,11:24:99:292,0,359
chr2	70935956	rs11681642;44228	T	C	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.513;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.322;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.9;ReadPosRankSum=-2.14;SOR=0.434;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11681642;dbSNPBuildID=120;ANN=C|start_lost|HIGH|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|1/14|c.2T>C|p.Met1?|89/1939|2/1542|1/513||,C|sequence_feature|LOW|ATP6V1B1|ATP6V1B1|antibody-mapping:heterologous_protein_expression_evidence|NM_001692.3|protein_coding|1/14|c.2T>C||||||,C|downstream_gene_variant|MODIFIER|VAX2|VAX2|transcript|NM_012476.2|protein_coding||c.*2752T>C|||||2511|;LOF=(ATP6V1B1|ATP6V1B1|1|1.00);p3_1000G_AA=T|||;p3_1000G_AC=1847;p3_1000G_AF=0.36881;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=12582;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.4473;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71163086;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1644,2762;ESP6500_AA_AGE=490.4+/-361.8;ESP6500_AA_GTC=288,1068,847;ESP6500_CDS_SIZES=NM_001692.3:1542;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=3754,4846;ESP6500_EA_AGE=526.3+/-380.9;ESP6500_EA_GTC=834,2086,1380;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001692.3:missense;ESP6500_GL=ATP6V1B1;ESP6500_GRCh38_POSITION=2:70935956;ESP6500_GS=81;ESP6500_GTC=1122,3154,2227;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001692.3:c.2T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001692.3:p.(M1T);ESP6500_MAF=43.6512,37.3128,41.5039;ESP6500_PH=possibly-damaging:0.826;ESP6500_TAC=5398,7608;CLINVAR_AF_ESP=0.4150;CLINVAR_AF_EXAC=0.40949;CLINVAR_AF_TGP=0.3688;CLINVAR_ALLELEID=53395;CLINVAR_CLNDISDB=MedGen:C0403554,OMIM:267300,SNOMED_CT:236532003|MedGen:CN169374;CLINVAR_CLNDN=Renal_tubular_acidosis_with_progressive_nerve_deafness|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.70935956T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25214;CLINVAR_GENEINFO=ATP6V1B1:525;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11681642	GT:AD:DP:GQ:PL	0/1:31,12:43:99:196,0,737
chr2	70936090	rs35768563	C	T	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.159;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.224;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-1.621;SOR=0.617;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35768563;dbSNPBuildID=126;ANN=T|downstream_gene_variant|MODIFIER|VAX2|VAX2|transcript|NM_012476.2|protein_coding||c.*2886C>T|||||2645|,T|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|1/13|c.118+18C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=82;p3_1000G_AF=0.0163738;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=12467;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71163220;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=23,4383;ESP6500_AA_AGE=29.0+/-57.7;ESP6500_AA_GTC=0,23,2180;ESP6500_CDS_SIZES=NM_001692.3:1542;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=41;ESP6500_EA_AC=247,8353;ESP6500_EA_AGE=96.1+/-157.9;ESP6500_EA_GTC=2,243,4055;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001692.3:intron;ESP6500_GL=ATP6V1B1;ESP6500_GRCh38_POSITION=2:70936090;ESP6500_GTC=2,266,6235;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001692.3:c.118+18C>T;ESP6500_MAF=2.8721,0.522,2.076;ESP6500_TAC=270,12736	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,7:25:99:0|1:70936090_C_T:220,0,760
chr2	70936095	rs759219	C	T	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.525;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.801;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-1.962;SOR=1.123;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs759219;dbSNPBuildID=86;ANN=T|downstream_gene_variant|MODIFIER|VAX2|VAX2|transcript|NM_012476.2|protein_coding||c.*2891C>T|||||2650|,T|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|1/13|c.118+23C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1892;p3_1000G_AF=0.377796;p3_1000G_AFR_AF=0.4085;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=12299;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.4453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71163225;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1743,2663;ESP6500_AA_AGE=632.2+/-395.8;ESP6500_AA_GTC=331,1081,791;ESP6500_CDS_SIZES=NM_001692.3:1542;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=37;ESP6500_EA_AC=3747,4853;ESP6500_EA_AGE=607.0+/-395.2;ESP6500_EA_GTC=833,2081,1386;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001692.3:intron;ESP6500_GL=ATP6V1B1;ESP6500_GRCh38_POSITION=2:70936095;ESP6500_GTC=1164,3162,2177;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001692.3:c.118+23C>T;ESP6500_MAF=43.5698,39.5597,42.2113;ESP6500_TAC=5490,7516	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,6:21:99:0|1:70936090_C_T:226,0,707
chr2	70936147	rs34965400	G	A	16.86	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=-1.282;SOR=2.245;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34965400;dbSNPBuildID=126;ANN=A|downstream_gene_variant|MODIFIER|VAX2|VAX2|transcript|NM_012476.2|protein_coding||c.*2943G>A|||||2702|,A|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|1/13|c.118+75G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=82;p3_1000G_AF=0.0163738;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=11881;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.0298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71163277;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:45:45,0,107
chr2	70943677	rs2266918;44225	C	T	301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.221;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=8.072;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=0.715;SOR=2.338;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2266918;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|2/14|c.138C>T|p.Ser46Ser|225/1939|138/1542|46/513||,T|intron_variant|MODIFIER|ATP6V1B1-AS1|ATP6V1B1-AS1|transcript|NR_110273.1|pseudogene|2/2|n.524-1244G>A||||||,T|intron_variant|MODIFIER|ATP6V1B1-AS1|ATP6V1B1-AS1|transcript|NR_110274.1|pseudogene|1/1|n.386-1244G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1400;p3_1000G_AF=0.279553;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=14726;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.2087;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71170807;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=506,3900;ESP6500_AA_AGE=233.3+/-246.5;ESP6500_AA_GTC=24,458,1721;ESP6500_CDS_SIZES=NM_001692.3:1542;ESP6500_CG=-1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=85;ESP6500_EA_AC=1533,7067;ESP6500_EA_AGE=287.1+/-298.1;ESP6500_EA_GTC=129,1275,2896;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001692.3:coding-synonymous;ESP6500_GL=ATP6V1B1;ESP6500_GRCh38_POSITION=2:70943677;ESP6500_GTC=153,1733,4617;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001692.3:c.138C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001692.3:p.(S46);ESP6500_MAF=17.8256,11.4843,15.6774;ESP6500_TAC=2039,10967;CLINVAR_AF_ESP=0.1568;CLINVAR_AF_EXAC=0.24068;CLINVAR_AF_TGP=0.2796;CLINVAR_ALLELEID=53392;CLINVAR_CLNDISDB=MedGen:C0403554,OMIM:267300,SNOMED_CT:236532003|MedGen:CN169374;CLINVAR_CLNDN=Renal_tubular_acidosis_with_progressive_nerve_deafness|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.70943677C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53694;CLINVAR_GENEINFO=ATP6V1B1:525|ATP6V1B1-AS1:101927750;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2266918	GT:AD:DP:GQ:PL	0/1:27,14:41:99:330,0,686
chr2	70948381	rs35598289;rs386390437;rs397773699	G	GAA	1029.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.168;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=-0.081;SOR=0.683;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35598289;dbSNPBuildID=138,138,138;ANN=GAA|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|2/13|c.174+4671_174+4672dupAA||||||INFO_REALIGN_3_PRIME,GAA|non_coding_transcript_exon_variant|MODIFIER|ATP6V1B1-AS1|ATP6V1B1-AS1|transcript|NR_110273.1|pseudogene|1/3|n.229_230dupTT||||||,GAA|non_coding_transcript_exon_variant|MODIFIER|ATP6V1B1-AS1|ATP6V1B1-AS1|transcript|NR_110274.1|pseudogene|1/2|n.229_230dupTT||||||;p3_1000G_AC=615;p3_1000G_AF=0.122804;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=18364;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0.1352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71175511;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:24,29:53:99:1067,0,858
chr2	70948422	rs34723947;rs397762157	T	TG	955.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.046;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.63;SOR=0.629;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34723947;dbSNPBuildID=126,138;ANN=TG|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|2/13|c.174+4713dupG||||||INFO_REALIGN_3_PRIME,TG|non_coding_transcript_exon_variant|MODIFIER|ATP6V1B1-AS1|ATP6V1B1-AS1|transcript|NR_110273.1|pseudogene|1/3|n.189dupC||||||,TG|non_coding_transcript_exon_variant|MODIFIER|ATP6V1B1-AS1|ATP6V1B1-AS1|transcript|NR_110274.1|pseudogene|1/2|n.189dupC||||||;p3_1000G_AA=GGGG|GGGG|GGGGG|insertion;p3_1000G_AC=613;p3_1000G_AF=0.122404;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=19111;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0.1372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71175552;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:32,37:69:99:993,0,837
chr2	70958261	rs967063	A	C	849.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=2.19;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs967063;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|3/13|c.274-72A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2331;p3_1000G_AF=0.465455;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=20518;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.4652;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71185391;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,30:54:99:878,0,616
chr2	70958436	.	A	T	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.963;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=15.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=2.55;SOR=4.174;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|4/13|c.367+10A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,7:33:99:0|1:70958436_A_T:101,0,1001
chr2	70958440	.	A	T	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.659;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=23.94;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.97;SOR=4.611;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|4/13|c.367+14A>T||||||	GT:AD:DP:GQ:PL	0/1:21,9:30:38:38,0,507
chr2	70958446	.	A	T	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.4;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=16.443;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.45;ReadPosRankSum=2.02;SOR=4.172;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|4/13|c.367+20A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,7:26:99:0|1:70958436_A_T:118,0,858
chr2	70959252	rs17006573	G	A	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.005;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=1.43;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17006573;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|5/13|c.445+157G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2237;p3_1000G_AF=0.446685;p3_1000G_AFR_AF=0.1475;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19664;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71186382;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:183,0,223
chr2	70963254	rs2072462;44222	C	T	518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.106;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=8.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.066;SOR=0.797;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072462;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|10/14|c.1002C>T|p.Arg334Arg|1089/1939|1002/1542|334/513||;p3_1000G_AA=C|||;p3_1000G_AC=2191;p3_1000G_AF=0.4375;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=17308;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.4622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71190384;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=795,3611;ESP6500_AA_AGE=318.2+/-295.5;ESP6500_AA_GTC=74,647,1482;ESP6500_CDS_SIZES=NM_001692.3:1542;ESP6500_CG=-9.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=65;ESP6500_EA_AC=3865,4735;ESP6500_EA_AGE=541.8+/-384.1;ESP6500_EA_GTC=865,2135,1300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001692.3:coding-synonymous;ESP6500_GL=ATP6V1B1;ESP6500_GRCh38_POSITION=2:70963254;ESP6500_GTC=939,2782,2782;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001692.3:c.1002C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001692.3:p.(R334);ESP6500_MAF=44.9419,18.0436,35.8296;ESP6500_TAC=4660,8346;CLINVAR_AF_ESP=0.3583;CLINVAR_AF_EXAC=0.46902;CLINVAR_AF_TGP=0.4375;CLINVAR_ALLELEID=53389;CLINVAR_CLNDISDB=MedGen:C0403554,OMIM:267300,SNOMED_CT:236532003|MedGen:CN169374;CLINVAR_CLNDN=Renal_tubular_acidosis_with_progressive_nerve_deafness|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.70963254C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25073;CLINVAR_GENEINFO=ATP6V1B1:525;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2072462	GT:AD:DP:GQ:PL	0/1:22,24:46:99:547,0,568
chr2	70963415	rs2072463	G	A	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.687;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.568;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.374;SOR=0.242;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072463;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|10/13|c.1060+103G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2195;p3_1000G_AF=0.438299;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=19332;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.4632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71190545;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,16:30:99:465,0,409
chr2	70964647	rs2270263	C	T	548.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.636;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.171;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270263;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ATP6V1B1|ATP6V1B1|transcript|NM_001692.3|protein_coding|12/13|c.1249-89C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2079;p3_1000G_AF=0.415136;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=17766;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71191777;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,19:31:99:577,0,334
chr2	70978846	rs1115049	A	G	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.241;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.97;ReadPosRankSum=-0.508;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1115049;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ANKRD53|ANKRD53|transcript|NM_001115116.1|protein_coding|1/5|c.170+31A>G||||||,G|intron_variant|MODIFIER|ANKRD53|ANKRD53|transcript|NM_024933.3|protein_coding|1/6|c.170+31A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3053;p3_1000G_AF=0.609625;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=10611;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.5736;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71205976;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2887,1387;ESP6500_AA_GTC=1010,867,260;ESP6500_CDS_SIZES=NM_024933.3:1032,NM_001115116.1:1593;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=9;ESP6500_EA_AC=4980,3384;ESP6500_EA_GTC=1562,1856,764;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024933.3:intron,NM_001115116.1:intron;ESP6500_GL=ANKRD53;ESP6500_GRCh38_POSITION=2:70978846;ESP6500_GTC=2572,2723,1024;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024933.3:c.170+31A>G,NM_001115116.1:c.170+31A>G;ESP6500_MAF=40.4591,32.452,37.7512;ESP6500_TAC=7867,4771	GT:AD:DP:GQ:PL	0/1:5,4:9:99:100,0,142
chr2	70978928	rs1115050	A	C	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.674;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1115050;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ANKRD53|ANKRD53|transcript|NM_001115116.1|protein_coding|1/5|c.170+113A>C||||||,C|intron_variant|MODIFIER|ANKRD53|ANKRD53|transcript|NM_024933.3|protein_coding|1/6|c.170+113A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3366;p3_1000G_AF=0.672125;p3_1000G_AFR_AF=0.8359;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=10173;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.6332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71206058;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:62:103,0,62
chr2	70984859	rs3796099	A	G	1002.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=98;ExcessHet=3.0103;FS=1.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.809;SOR=0.806;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796099;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|ANKRD53|ANKRD53|transcript|NM_001115116.1|protein_coding|6/6|c.1152A>G|p.Thr384Thr|1353/1993|1152/1593|384/530||,G|3_prime_UTR_variant|MODIFIER|ANKRD53|ANKRD53|transcript|NM_024933.3|protein_coding|7/7|c.*247A>G|||||247|,G|downstream_gene_variant|MODIFIER|TEX261|TEX261|transcript|NM_144582.2|protein_coding||c.*3741T>C|||||1079|;p3_1000G_AA=G|||;p3_1000G_AC=3372;p3_1000G_AF=0.673323;p3_1000G_AFR_AF=0.8464;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=15211;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71211989;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1149,235;ESP6500_AA_GTC=475,199,18;ESP6500_CDS_SIZES=NM_024933.3:1032,NM_001115116.1:1593;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=35;ESP6500_EA_AC=1960,1222;ESP6500_EA_GTC=588,784,219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024933.3:utr-3,NM_001115116.1:coding-synonymous;ESP6500_GL=ANKRD53;ESP6500_GRCh38_POSITION=2:70984859;ESP6500_GTC=1063,983,237;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024933.3:c.*247A>G,NM_001115116.1:c.1152A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001115116.1:p.(T384);ESP6500_MAF=38.4035,16.9798,31.9098;ESP6500_TAC=3109,1457	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1031,0,1186
chr2	71070565	rs2287328	T	C	540.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.765;SOR=0.572;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287328;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|NAGK|NAGK|transcript|NM_017567.4|protein_coding|2/10|c.231T>C|p.Asp77Asp|499/1801|231/1173|77/390||;p3_1000G_AA=T|||;p3_1000G_AC=718;p3_1000G_AF=0.143371;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=20063;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.1431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71297695;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=624,3782;ESP6500_AA_AGE=269.5+/-269.1;ESP6500_AA_GTC=45,534,1624;ESP6500_CDS_SIZES=NM_017567.4:1173;ESP6500_CG=-3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=97;ESP6500_EA_AC=1344,7256;ESP6500_EA_AGE=264.3+/-285.5;ESP6500_EA_GTC=115,1114,3071;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017567.4:coding-synonymous;ESP6500_GL=NAGK;ESP6500_GRCh38_POSITION=2:71070565;ESP6500_GTC=160,1648,4695;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017567.4:c.231T>C;ESP6500_HGVS_PROTEIN_VAR=NM_017567.4:p.(D77);ESP6500_MAF=15.6279,14.1625,15.1315;ESP6500_TAC=1968,11038	GT:AD:DP:GQ:PL	0/1:19,19:38:99:569,0,459
chr2	71070852	rs2287327	C	T	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.312;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.213;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287327;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NAGK|NAGK|transcript|NM_017567.4|protein_coding|3/9|c.351+13C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2186;p3_1000G_AF=0.436502;p3_1000G_AFR_AF=0.5613;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=20963;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.2992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71297982;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2338,2068;ESP6500_AA_AGE=570.2+/-382.8;ESP6500_AA_GTC=627,1084,492;ESP6500_CDS_SIZES=NM_017567.4:1173;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=2805,5795;ESP6500_EA_AGE=675.8+/-403.2;ESP6500_EA_GTC=475,1855,1970;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017567.4:intron;ESP6500_GL=NAGK;ESP6500_GRCh38_POSITION=2:71070852;ESP6500_GTC=1102,2939,2462;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017567.4:c.351+13C>T;ESP6500_MAF=32.6163,46.936,39.5433;ESP6500_TAC=5143,7863	GT:AD:DP:GQ:PL	0/1:18,18:36:99:438,0,436
chr2	71077608	rs1043701	G	A	357.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.235;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.727;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=1.36;SOR=0.336;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1043701;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|NAGK|NAGK|transcript|NM_017567.4|protein_coding|9/10|c.954G>A|p.Val318Val|1222/1801|954/1173|318/390||;p3_1000G_AA=G|||;p3_1000G_AC=250;p3_1000G_AF=0.0499201;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=16621;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0.1153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71304738;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=85,4321;ESP6500_AA_AGE=68.7+/-106.4;ESP6500_AA_GTC=2,81,2120;ESP6500_CDS_SIZES=NM_017567.4:1173;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=50;ESP6500_EA_AC=964,7636;ESP6500_EA_AGE=201.1+/-244.7;ESP6500_EA_GTC=56,852,3392;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017567.4:coding-synonymous;ESP6500_GL=NAGK;ESP6500_GRCh38_POSITION=2:71077608;ESP6500_GTC=58,933,5512;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017567.4:c.954G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017567.4:p.(V318);ESP6500_MAF=11.2093,1.9292,8.0655;ESP6500_TAC=1049,11957	GT:AD:DP:GQ:PL	0/1:29,16:45:99:386,0,840
chr2	71078229	rs2302794	G	A	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.098;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=11.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.159;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302794;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NAGK|NAGK|transcript|NM_017567.4|protein_coding|9/9|c.983-89G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1519;p3_1000G_AF=0.303315;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=19734;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71305359;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,13:33:99:356,0,530
chr2	71078326	rs6713	C	T	1676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=1.199;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6713;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|NAGK|NAGK|transcript|NM_017567.4|protein_coding|10/10|c.991C>T|p.Leu331Leu|1259/1801|991/1173|331/390||;p3_1000G_AA=T|||;p3_1000G_AC=4156;p3_1000G_AF=0.829872;p3_1000G_AFR_AF=0.8654;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=18773;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71305456;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8446;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3593,813;ESP6500_AA_AGE=324.2+/-298.5;ESP6500_AA_GTC=1473,647,83;ESP6500_CDS_SIZES=NM_017567.4:1173;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=82;ESP6500_EA_AC=5984,2616;ESP6500_EA_AGE=419.7+/-353.2;ESP6500_EA_GTC=2076,1832,392;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017567.4:coding-synonymous;ESP6500_GL=NAGK;ESP6500_GRCh38_POSITION=2:71078326;ESP6500_GTC=3549,2479,475;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017567.4:c.991C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017567.4:p.(L331);ESP6500_MAF=30.4186,18.4521,26.3648;ESP6500_TAC=9577,3429	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1705,167,0
chr2	71124357	rs11541017;138182	G	A	520.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.121;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=4.286;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.19;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11541017;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|MCEE|MCEE|transcript|NM_032601.3|protein_coding|2/3|c.227C>T|p.Ala76Val|272/870|227/531|76/176||,A|sequence_feature|LOW|MCEE|MCEE|antibody-mapping:heterologous_protein_expression_evidence|NM_032601.3|protein_coding|2/3|c.227C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=914;p3_1000G_AF=0.182508;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=15349;p3_1000G_EAS_AF=0.0446;p3_1000G_EUR_AF=0.3956;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71351487;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=357,4049;ESP6500_AA_AGE=183.3+/-210.9;ESP6500_AA_GTC=17,323,1863;ESP6500_CDS_SIZES=NM_032601.3:531;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=105;ESP6500_EA_AC=3202,5398;ESP6500_EA_AGE=484.1+/-371.3;ESP6500_EA_GTC=627,1948,1725;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032601.3:missense;ESP6500_GL=MCEE;ESP6500_GRCh38_POSITION=2:71124357;ESP6500_GS=64;ESP6500_GTC=644,2271,3588;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032601.3:c.227C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032601.3:p.(A76V);ESP6500_MAF=37.2326,8.1026,27.3643;ESP6500_PH=benign:0.015;ESP6500_TAC=3559,9447;CLINVAR_AF_ESP=0.2736;CLINVAR_AF_EXAC=0.30564;CLINVAR_AF_TGP=0.1825;CLINVAR_ALLELEID=141885;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002912,MedGen:C0268583,SNOMED_CT:42393006|MedGen:CN169374;CLINVAR_CLNDN=Methylmalonic_acidemia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.71124357G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25226|UniProtKB_(protein):Q96PE7#VAR_049248;CLINVAR_GENEINFO=MCEE:84693;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11541017	GT:AD:DP:GQ:PL	0/1:21,24:45:99:549,0,562
chr2	71130287	rs2012479	C	A	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.07;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2012479;dbSNPBuildID=92;ANN=A|upstream_gene_variant|MODIFIER|MCEE|MCEE|transcript|NM_032601.3|protein_coding||c.-68G>T|||||23|,A|upstream_gene_variant|MODIFIER|MPHOSPH10|MPHOSPH10|transcript|NM_005791.2|protein_coding||c.-379C>A|||||27|,A|intergenic_region|MODIFIER|MCEE-MPHOSPH10|MCEE-MPHOSPH10|intergenic_region|MCEE-MPHOSPH10|||n.71130287C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2322;p3_1000G_AF=0.463658;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=12119;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.6909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71357417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=461,829;ESP6500_AA_GTC=107,247,291;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=3;ESP6500_EA_AC=2175,861;ESP6500_EA_GTC=827,521,170;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=2:71130287;ESP6500_GTC=934,768,461;ESP6500_GTS=AA,AC,CC;ESP6500_MAF=28.3597,35.7364,39.0661;ESP6500_TAC=2636,1690	GT:AD:DP:GQ:PL	0/1:10,10:20:99:319,0,320
chr2	71133593	rs1813159	A	G	863.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1813159;dbSNPBuildID=92;ANN=G|upstream_gene_variant|MODIFIER|MCEE|MCEE|transcript|NM_032601.3|protein_coding||c.-3374T>C|||||3329|,G|intron_variant|MODIFIER|MPHOSPH10|MPHOSPH10|transcript|NM_005791.2|protein_coding|2/10|c.768+17A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4448;p3_1000G_AF=0.888179;p3_1000G_AFR_AF=0.7844;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=16494;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71360723;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3356,1002;ESP6500_AA_GTC=1286,784,109;ESP6500_CDS_SIZES=NM_005791.2:2046;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=42;ESP6500_EA_AC=7324,1258;ESP6500_EA_GTC=3134,1056,101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005791.2:intron;ESP6500_GL=MPHOSPH10;ESP6500_GRCh38_POSITION=2:71133593;ESP6500_GTC=4420,1840,210;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005791.2:c.768+17A>G;ESP6500_MAF=14.6586,22.9922,17.4652;ESP6500_TAC=10680,2260	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,21:21:63:1|1:71133593_A_G:892,63,0
chr2	71133605	rs138856662	T	TTCC	815.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=1.022;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs138856662,rs3070610;dbSNPBuildID=134;ANN=TTCC|upstream_gene_variant|MODIFIER|MCEE|MCEE|transcript|NM_032601.3|protein_coding||c.-3389_-3387dupGGA|||||3342|,TTCC|intron_variant|MODIFIER|MPHOSPH10|MPHOSPH10|transcript|NM_005791.2|protein_coding|2/10|c.768+35_768+37dupCTC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4495;p3_1000G_AF=0.897564;p3_1000G_AFR_AF=0.8298;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=16737;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.8469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71360735;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=INDEL;ESP6500_AA_AC=3079,885;ESP6500_AA_GTC=1270,539,173;ESP6500_CDS_SIZES=NM_005791.2:2046;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=31;ESP6500_EA_AC=6722,1304;ESP6500_EA_GTC=2889,944,180;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005791.2:intron;ESP6500_GL=MPHOSPH10;ESP6500_GRCh38_POSITION=2:71133605;ESP6500_GTC=4159,1483,353;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005791.2:c.768+29_768+30insTCC;ESP6500_MAF=16.2472,22.3259,18.2569;ESP6500_TAC=9801,2189	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:60:1|1:71133593_A_G:853,60,0
chr2	71138415	rs74417137	AATT	A	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs74417137;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|MPHOSPH10|MPHOSPH10|transcript|NM_005791.2|protein_coding|4/10|c.1099-71_1099-69delATT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=584;p3_1000G_AF=0.116613;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=15082;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71365545;p3_1000G_GRCH37_REF=AATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr2	71138675	rs79477128	A	G	474.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.101;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=0.811;QD=9.31;ReadPosRankSum=-0.816;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79477128;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|MPHOSPH10|MPHOSPH10|transcript|NM_005791.2|protein_coding|5/10|c.1240+44A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=588;p3_1000G_AF=0.117412;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=15881;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71365805;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=34,4372;ESP6500_AA_GTC=0,34,2169;ESP6500_CDS_SIZES=NM_005791.2:2046;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=25;ESP6500_EA_AC=121,8477;ESP6500_EA_GTC=0,121,4178;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005791.2:intron;ESP6500_GL=MPHOSPH10;ESP6500_GRCh38_POSITION=2:71138675;ESP6500_GTC=0,155,6347;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005791.2:c.1240+44A>G;ESP6500_MAF=1.4073,0.7717,1.1919;ESP6500_TAC=155,12849	GT:AD:DP:GQ:PL	0/1:32,19:51:99:503,0,799
chr2	71139827	rs3732240	C	A	640.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.233;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-1.49;SOR=0.557;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732240;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|MPHOSPH10|MPHOSPH10|transcript|NM_005791.2|protein_coding|6/11|c.1273C>A|p.Leu425Met|1625/2485|1273/2046|425/681||;p3_1000G_AA=C|||;p3_1000G_AC=584;p3_1000G_AF=0.116613;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=22147;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71366957;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=28,4378;ESP6500_AA_AGE=34.3+/-65.2;ESP6500_AA_GTC=0,28,2175;ESP6500_CDS_SIZES=NM_005791.2:2046;ESP6500_CG=5.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=140;ESP6500_EA_AC=122,8478;ESP6500_EA_AGE=63.1+/-125.2;ESP6500_EA_GTC=0,122,4178;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005791.2:missense;ESP6500_GL=MPHOSPH10;ESP6500_GRCh38_POSITION=2:71139827;ESP6500_GS=15;ESP6500_GTC=0,150,6353;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005791.2:c.1273C>A;ESP6500_HGVS_PROTEIN_VAR=NM_005791.2:p.(L425M);ESP6500_MAF=1.4186,0.6355,1.1533;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=150,12856	GT:AD:DP:GQ:PL	0/1:14,27:41:99:669,0,332
chr2	71178646	rs436793	C	T	1227.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.94;QD=31.48;SOR=1.552;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs436793;dbSNPBuildID=80;ANN=T|downstream_gene_variant|MODIFIER|PAIP2B|PAIP2B|transcript|NM_020459.1|protein_coding||c.*9833G>A|||||4092|,T|intergenic_region|MODIFIER|MPHOSPH10-PAIP2B|MPHOSPH10-PAIP2B|intergenic_region|MPHOSPH10-PAIP2B|||n.71178646C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1675;p3_1000G_AF=0.334465;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=16260;p3_1000G_EAS_AF=0.3323;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71405776;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1256,117,0
chr2	71188349	rs357780	T	C	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs357780;dbSNPBuildID=79;ANN=C|3_prime_UTR_variant|MODIFIER|PAIP2B|PAIP2B|transcript|NM_020459.1|protein_coding|4/4|c.*130A>G|||||130|;p3_1000G_AA=C|||;p3_1000G_AC=4724;p3_1000G_AF=0.943291;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=13522;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9085;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71415479;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:465,36,0
chr2	71189935	rs357777	G	T	1526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=0.9;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs357777;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|PAIP2B|PAIP2B|transcript|NM_020459.1|protein_coding|3/4|c.225C>A|p.Pro75Pro|412/6300|225/372|75/123||;p3_1000G_AA=T|||;p3_1000G_AC=4796;p3_1000G_AF=0.957668;p3_1000G_AFR_AF=0.9622;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=19061;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9076;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71417065;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3738,216;ESP6500_AA_GTC=1767,204,6;ESP6500_CDS_SIZES=NM_020459.1:372;ESP6500_CG=-1.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=62;ESP6500_EA_AC=7617,721;ESP6500_EA_GTC=3480,657,32;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020459.1:coding-synonymous;ESP6500_GL=PAIP2B;ESP6500_GRCh38_POSITION=2:71189935;ESP6500_GTC=5247,861,38;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_020459.1:c.225C>A;ESP6500_HGVS_PROTEIN_VAR=NM_020459.1:p.(P75);ESP6500_MAF=8.6472,5.4628,7.6228;ESP6500_TAC=11355,937	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1555,153,0
chr2	71190004	rs357776	C	T	1335.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs357776;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|PAIP2B|PAIP2B|transcript|NM_020459.1|protein_coding|3/4|c.156G>A|p.Gln52Gln|343/6300|156/372|52/123||;p3_1000G_AA=C|||;p3_1000G_AC=1686;p3_1000G_AF=0.336661;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=19581;p3_1000G_EAS_AF=0.3343;p3_1000G_EUR_AF=0.2326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71417134;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1251,2695;ESP6500_AA_GTC=196,859,918;ESP6500_CDS_SIZES=NM_020459.1:372;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=43;ESP6500_EA_AC=2155,6173;ESP6500_EA_GTC=296,1563,2305;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020459.1:coding-synonymous;ESP6500_GL=PAIP2B;ESP6500_GRCh38_POSITION=2:71190004;ESP6500_GTC=492,2422,3223;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020459.1:c.156G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020459.1:p.(Q52);ESP6500_MAF=25.8766,31.703,27.7497;ESP6500_TAC=3406,8868	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1364,126,0
chr2	71276848	rs59596777	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.33;MQRankSum=-0.319;QD=21.44;ReadPosRankSum=-1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59596777;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|PAIP2B-ZNF638|PAIP2B-ZNF638|intergenic_region|PAIP2B-ZNF638|||n.71276848T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1273;p3_1000G_AF=0.254193;p3_1000G_AFR_AF=0.3775;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=12591;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.1312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71503978;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:28:114,0,28
chr2	71361815	rs11315164;rs397984974	CT	C	169.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.317;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.381;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11315164;dbSNPBuildID=131,138;ANN=C|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|3/27|c.1380-1329delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|3/27|c.1380-1329delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|3/27|c.1380-1329delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|3/27|c.1380-1329delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|TTTTTTTTT|TTTTTTTT|unsure;p3_1000G_AC=4420;p3_1000G_AF=0.882588;p3_1000G_AFR_AF=0.8616;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=18215;p3_1000G_EAS_AF=0.8452;p3_1000G_EUR_AF=0.9195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71588945;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,8:11:54:207,0,54
chr2	71380409	rs17693408	G	A	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=-1.96;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17693408;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|9/27|c.2325-104G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|9/27|c.2325-104G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|9/27|c.2325-104G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|9/27|c.2325-104G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1608;p3_1000G_AF=0.321086;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=15227;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.5447;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71607539;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:68:68,0,107
chr2	71393433	rs12713748	A	G	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.076;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=7.048;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.428;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12713748;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|10/27|c.2378-2708A>G||||||,G|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|10/27|c.2378-2708A>G||||||,G|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|10/27|c.2378-2708A>G||||||,G|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|10/27|c.2378-2708A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=570;p3_1000G_AF=0.113818;p3_1000G_AFR_AF=0.1248;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=17076;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.0805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71620563;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,15:26:99:352,0,284
chr2	71393688	rs6741436	C	T	354.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6741436;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|10/27|c.2378-2453C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|10/27|c.2378-2453C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|10/27|c.2378-2453C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|10/27|c.2378-2453C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4636;p3_1000G_AF=0.925719;p3_1000G_AFR_AF=0.9372;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=21690;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.8738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71620818;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8947;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:383,36,0
chr2	71398637	rs13424541	G	A	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.93;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.218;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=-0.845;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13424541;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|11/27|c.2429-64G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|11/27|c.2429-64G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|11/27|c.2429-64G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|11/27|c.2429-64G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=687;p3_1000G_AF=0.137181;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=15988;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.0805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71625767;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=266,1118;ESP6500_AA_GTC=27,212,453;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=82;ESP6500_EA_AC=274,2908;ESP6500_EA_GTC=13,248,1330;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014497.4:intron,NM_001252613.1:intron,NM_001252612.1:intron,NM_001014972.2:intron;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71398637;ESP6500_GTC=40,460,1783;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.2429-64G>A,NM_001252613.1:c.2429-64G>A,NM_001252612.1:c.2429-64G>A,NM_001014972.2:c.2429-64G>A;ESP6500_MAF=8.6109,19.2197,11.8265;ESP6500_TAC=540,4026	GT:AD:DP:GQ:PL	0/1:11,6:17:99:156,0,260
chr2	71400409	rs3771371	C	T	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.274;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771371;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|14/27|c.2657-69C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|14/27|c.2657-69C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|14/27|c.2657-69C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|14/27|c.2657-69C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1869;p3_1000G_AF=0.373203;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=17210;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.5527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71627539;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=174,1210;ESP6500_AA_GTC=9,156,527;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=99;ESP6500_EA_AC=1840,1334;ESP6500_EA_GTC=537,766,284;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014497.4:intron,NM_001252613.1:intron,NM_001252612.1:intron,NM_001014972.2:intron;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71400409;ESP6500_GTC=546,922,811;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.2657-69C>T,NM_001252613.1:c.2657-69C>T,NM_001252612.1:c.2657-69C>T,NM_001014972.2:c.2657-69C>T;ESP6500_MAF=42.029,12.5723,44.186;ESP6500_TAC=2014,2544	GT:AD:DP:GQ:PL	0/1:7,10:17:99:252,0,162
chr2	71403979	rs3732235	A	G	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=1.07;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732235;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|17/28|c.2939A>G|p.Asn980Ser|3252/6504|2939/5937|980/1978||,G|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|17/28|c.2939A>G|p.Asn980Ser|3578/6830|2939/5937|980/1978||,G|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|17/28|c.2939A>G|p.Asn980Ser|3262/6451|2939/5874|980/1957||,G|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|17/28|c.2939A>G|p.Asn980Ser|3262/6514|2939/5937|980/1978||;p3_1000G_AA=A|||;p3_1000G_AC=575;p3_1000G_AF=0.114816;p3_1000G_AFR_AF=0.1256;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=17380;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0805;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71631109;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=579,3827;ESP6500_AA_AGE=254.9+/-260.3;ESP6500_AA_GTC=38,503,1662;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=135;ESP6500_EA_AC=784,7812;ESP6500_EA_AGE=184.6+/-232.5;ESP6500_EA_GTC=41,702,3555;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014497.4:missense,NM_001252613.1:missense,NM_001252612.1:missense,NM_001014972.2:missense;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71403979;ESP6500_GS=46,46,46,46;ESP6500_GTC=79,1205,5217;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.2939A>G,NM_001252613.1:c.2939A>G,NM_001252612.1:c.2939A>G,NM_001014972.2:c.2939A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014497.4:p.(N980S),NM_001252613.1:p.(N980S),NM_001252612.1:p.(N980S),NM_001014972.2:p.(N980S);ESP6500_MAF=9.1205,13.1412,10.483;ESP6500_PH=benign:0.189,benign:0.189,benign:0.189,benign:0.189;ESP6500_TAC=1363,11639	GT:AD:DP:GQ:PL	0/1:10,8:18:99:196,0,220
chr2	71406145	rs3732233	T	C	645.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0.939;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.704;SOR=0.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732233;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|19/28|c.3018T>C|p.Ile1006Ile|3331/6504|3018/5937|1006/1978||,C|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|19/28|c.3018T>C|p.Ile1006Ile|3657/6830|3018/5937|1006/1978||,C|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|19/28|c.3018T>C|p.Ile1006Ile|3341/6451|3018/5874|1006/1957||,C|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|19/28|c.3018T>C|p.Ile1006Ile|3341/6514|3018/5937|1006/1978||;p3_1000G_AA=T|||;p3_1000G_AC=2065;p3_1000G_AF=0.41234;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=18894;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.5517;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71633275;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1029,3377;ESP6500_AA_AGE=377.8+/-322.6;ESP6500_AA_GTC=108,813,1282;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=2.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=154;ESP6500_EA_AC=4972,3628;ESP6500_EA_AGE=625.2+/-397.7;ESP6500_EA_GTC=1432,2108,760;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014497.4:coding-synonymous,NM_001252613.1:coding-synonymous,NM_001252612.1:coding-synonymous,NM_001014972.2:coding-synonymous;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71406145;ESP6500_GTC=1540,2921,2042;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.3018T>C,NM_001252613.1:c.3018T>C,NM_001252612.1:c.3018T>C,NM_001014972.2:c.3018T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014497.4:p.(I1006),NM_001252613.1:p.(I1006),NM_001252612.1:p.(I1006),NM_001014972.2:p.(I1006);ESP6500_MAF=42.186,23.3545,46.1402;ESP6500_TAC=6001,7005	GT:AD:DP:GQ:PL	0/1:42,27:69:99:674,0,1022
chr2	71406259	rs6714975	C	T	568.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.755;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.557;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.825;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6714975;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|19/28|c.3132C>T|p.Asn1044Asn|3445/6504|3132/5937|1044/1978||,T|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|19/28|c.3132C>T|p.Asn1044Asn|3771/6830|3132/5937|1044/1978||,T|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|19/28|c.3132C>T|p.Asn1044Asn|3455/6451|3132/5874|1044/1957||,T|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|19/28|c.3132C>T|p.Asn1044Asn|3455/6514|3132/5937|1044/1978||;p3_1000G_AA=C|||;p3_1000G_AC=2127;p3_1000G_AF=0.42472;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=18856;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.5527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71633389;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1193,3211;ESP6500_AA_AGE=414.6+/-336.9;ESP6500_AA_GTC=160,873,1169;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=111;ESP6500_EA_AC=4982,3618;ESP6500_EA_AGE=625.1+/-397.7;ESP6500_EA_GTC=1437,2108,755;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014497.4:coding-synonymous,NM_001252613.1:coding-synonymous,NM_001252612.1:coding-synonymous,NM_001014972.2:coding-synonymous;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71406259;ESP6500_GTC=1597,2981,1924;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.3132C>T,NM_001252613.1:c.3132C>T,NM_001252612.1:c.3132C>T,NM_001014972.2:c.3132C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014497.4:p.(N1044),NM_001252613.1:p.(N1044),NM_001252612.1:p.(N1044),NM_001014972.2:p.(N1044);ESP6500_MAF=42.0698,27.089,47.4854;ESP6500_TAC=6175,6829	GT:AD:DP:GQ:PL	0/1:22,26:48:99:597,0,579
chr2	71408332	rs3755334	T	G	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.16;ReadPosRankSum=0.709;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3755334;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|20/27|c.3261+85T>G||||||,G|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|20/27|c.3261+85T>G||||||,G|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|20/27|c.3261+85T>G||||||,G|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|20/27|c.3261+85T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=585;p3_1000G_AF=0.116813;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=18944;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71635462;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,12:17:99:422,0,146
chr2	71418498	rs578062675;rs72207075	G	GT	21.76	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.328;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=0;SOR=0.446;INS;HET;VARTYPE=INS;dbSNP138_ID=rs72207075;dbSNPBuildID=142,137;ANN=GT|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|20/27|c.3262-93dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|20/27|c.3262-93dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|20/27|c.3262-93dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|20/27|c.3262-93dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,3:7:59:59,0,89
chr2	71418698	rs4852783	G	A	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.648;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-2.089;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4852783;dbSNPBuildID=111;ANN=A|sequence_feature|MODERATE|ZNF638|ZNF638|modified-residue:phosphoserine|NM_001252613.1|protein_coding|21/27|c.3299+59G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|21/27|c.3299+59G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|21/27|c.3299+59G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|21/27|c.3299+59G>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|21/27|c.3299+59G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2065;p3_1000G_AF=0.41234;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=14647;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.5527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71645828;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=324,1060;ESP6500_AA_GTC=30,264,398;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=54;ESP6500_EA_AC=1820,1332;ESP6500_EA_GTC=532,756,288;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014497.4:intron,NM_001252613.1:intron,NM_001252612.1:intron,NM_001014972.2:intron;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71418698;ESP6500_GTC=562,1020,686;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.3299+59G>A,NM_001252613.1:c.3299+59G>A,NM_001252612.1:c.3299+59G>A,NM_001014972.2:c.3299+59G>A;ESP6500_MAF=42.2589,23.4104,47.2663;ESP6500_TAC=2144,2392	GT:AD:DP:GQ:PL	0/1:12,12:24:99:273,0,260
chr2	71418760	rs4852784	G	C	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-0.084;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4852784;dbSNPBuildID=111;ANN=C|sequence_feature|MODERATE|ZNF638|ZNF638|modified-residue:phosphoserine|NM_001252613.1|protein_coding|21/27|c.3299+121G>C||||||,C|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|21/27|c.3299+121G>C||||||,C|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|21/27|c.3299+121G>C||||||,C|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|21/27|c.3299+121G>C||||||,C|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|21/27|c.3299+121G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3072;p3_1000G_AF=0.613419;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.7478;p3_1000G_AN=5008;p3_1000G_DP=15208;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.7505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71645890;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:66:66,0,147
chr2	71424561	rs150899421	G	GT	53.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=1.1;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs150899421;dbSNPBuildID=134;ANN=GT|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|22/27|c.4525-80dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|22/27|c.4525-80dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|22/27|c.4525-80dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|22/27|c.4525-80dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|complex_insertion;p3_1000G_AC=628;p3_1000G_AF=0.125399;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=23856;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.0815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71651691;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,4:8:91:91,0,91
chr2	71424809	rs12613800	T	A	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=0.137;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12613800;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|23/27|c.4590+94T>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|23/27|c.4590+94T>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|23/27|c.4590+94T>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|23/27|c.4590+94T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2943;p3_1000G_AF=0.58766;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=17960;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71651939;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,2:11:45:45,0,266
chr2	71427045	rs1804020	G	A	656.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.91;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.576;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1804020;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|24/28|c.5176G>A|p.Val1726Met|5489/6504|5176/5937|1726/1978||,A|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|24/28|c.5176G>A|p.Val1726Met|5815/6830|5176/5937|1726/1978||,A|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|24/28|c.5176G>A|p.Val1726Met|5499/6451|5176/5874|1726/1957||,A|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|24/28|c.5176G>A|p.Val1726Met|5499/6514|5176/5937|1726/1978||;p3_1000G_AA=A|||;p3_1000G_AC=1719;p3_1000G_AF=0.343251;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=19941;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.2376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71654175;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1105,3301;ESP6500_AA_AGE=720.2+/-409.0;ESP6500_AA_GTC=146,813,1244;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=124;ESP6500_EA_AC=2047,6553;ESP6500_EA_AGE=719.4+/-406.3;ESP6500_EA_GTC=260,1527,2513;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014497.4:missense,NM_001252613.1:missense,NM_001252612.1:missense,NM_001014972.2:missense;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71427045;ESP6500_GS=21,21,21,21;ESP6500_GTC=406,2340,3757;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.5176G>A,NM_001252613.1:c.5176G>A,NM_001252612.1:c.5176G>A,NM_001014972.2:c.5176G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014497.4:p.(V1726M),NM_001252613.1:p.(V1726M),NM_001252612.1:p.(V1726M),NM_001014972.2:p.(V1726M);ESP6500_MAF=23.8023,25.0794,24.235;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3152,9854	GT:AD:DP:GQ:PL	0/1:28,24:52:99:685,0,916
chr2	71427320	rs60163900	A	G	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.625;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.81;ReadPosRankSum=1.24;SOR=1.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60163900;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|24/28|c.5451A>G|p.Lys1817Lys|5764/6504|5451/5937|1817/1978||,G|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|24/28|c.5451A>G|p.Lys1817Lys|6090/6830|5451/5937|1817/1978||,G|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|24/28|c.5451A>G|p.Lys1817Lys|5774/6451|5451/5874|1817/1957||,G|synonymous_variant|LOW|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|24/28|c.5451A>G|p.Lys1817Lys|5774/6514|5451/5937|1817/1978||;p3_1000G_AA=A|||;p3_1000G_AC=591;p3_1000G_AF=0.118011;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=17859;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.0795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71654450;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=621,3785;ESP6500_AA_AGE=257.0+/-261.6;ESP6500_AA_GTC=46,529,1628;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=75;ESP6500_EA_AC=782,7818;ESP6500_EA_AGE=179.3+/-228.5;ESP6500_EA_GTC=41,700,3559;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014497.4:coding-synonymous,NM_001252613.1:coding-synonymous,NM_001252612.1:coding-synonymous,NM_001014972.2:coding-synonymous;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71427320;ESP6500_GTC=87,1229,5187;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.5451A>G,NM_001252613.1:c.5451A>G,NM_001252612.1:c.5451A>G,NM_001014972.2:c.5451A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014497.4:p.(K1817),NM_001252613.1:p.(K1817),NM_001252612.1:p.(K1817),NM_001014972.2:p.(K1817);ESP6500_MAF=9.093,14.0944,10.7873;ESP6500_TAC=1403,11603	GT:AD:DP:GQ:PL	0/1:3,9:12:53:266,0,53
chr2	71428456	rs28613330	T	A	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28613330;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|24/27|c.5546-91T>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|24/27|c.5546-91T>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|24/27|c.5546-91T>A||||||,A|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|24/27|c.5546-91T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=556;p3_1000G_AF=0.111022;p3_1000G_AFR_AF=0.1074;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=17140;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.0795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71655586;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:62:62,0,104
chr2	71431234	rs13383758	C	T	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.524;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13383758;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|25/27|c.5651-93C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|25/27|c.5651-93C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|25/27|c.5651-93C>T||||||,T|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|25/27|c.5651-93C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=494;p3_1000G_AF=0.0986422;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=16845;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.0795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71658364;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:64:103,0,64
chr2	71431411	rs11542286	C	T	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.697;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=6.421;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.075;SOR=0.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11542286;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|26/28|c.5735C>T|p.Ala1912Val|6048/6504|5735/5937|1912/1978||,T|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|26/28|c.5735C>T|p.Ala1912Val|6374/6830|5735/5937|1912/1978||,T|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|26/28|c.5735C>T|p.Ala1912Val|6058/6451|5735/5874|1912/1957||,T|missense_variant|MODERATE|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|26/28|c.5735C>T|p.Ala1912Val|6058/6514|5735/5937|1912/1978||;p3_1000G_AA=C|||;p3_1000G_AC=582;p3_1000G_AF=0.116214;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=16949;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.0795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71658541;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=584,3822;ESP6500_AA_AGE=258.3+/-262.4;ESP6500_AA_GTC=38,508,1657;ESP6500_CDS_SIZES=NM_014497.4:5937,NM_001252613.1:5874,NM_001252612.1:5937,NM_001014972.2:5937;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=785,7815;ESP6500_EA_AGE=185.5+/-233.2;ESP6500_EA_GTC=41,703,3556;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014497.4:missense,NM_001252613.1:missense,NM_001252612.1:missense,NM_001014972.2:missense;ESP6500_GL=ZNF638;ESP6500_GRCh38_POSITION=2:71431411;ESP6500_GS=64,64,64,64;ESP6500_GTC=79,1211,5213;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014497.4:c.5735C>T,NM_001252613.1:c.5735C>T,NM_001252612.1:c.5735C>T,NM_001014972.2:c.5735C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014497.4:p.(A1912V),NM_001252613.1:p.(A1912V),NM_001252612.1:p.(A1912V),NM_001014972.2:p.(A1912V);ESP6500_MAF=9.1279,13.2547,10.5259;ESP6500_PH=benign:0.017,benign:0.017,benign:0.017,benign:0.017;ESP6500_TAC=1369,11637	GT:AD:DP:GQ:PL	0/1:4,9:13:99:218,0,108
chr2	71433365	rs34126477	T	TC	389.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.933;SOR=0.324;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34126477;dbSNPBuildID=126;ANN=TC|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001014972.2|protein_coding|27/27|c.5871+88dupC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252612.1|protein_coding|27/27|c.5871+88dupC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_001252613.1|protein_coding|27/27|c.5808+88dupC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|ZNF638|ZNF638|transcript|NM_014497.4|protein_coding|27/27|c.5871+88dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|CCCCCC|CCCCCCC|unsure;p3_1000G_AC=594;p3_1000G_AF=0.11861;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=20800;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.0795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71660495;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:26,18:44:99:427,0,677
chr2	71481722	rs566362594	C	CCATCCATCCATCCATCCATT	171.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNPBuildID=142;ANN=CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|2/55|c.148-150_148-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|2/53|c.145-150_145-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|2/54|c.145-150_145-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|2/55|c.145-150_145-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|2/55|c.145-150_145-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|2/54|c.145-150_145-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|2/55|c.145-150_145-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|2/54|c.145-150_145-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|2/54|c.148-150_148-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|2/55|c.148-150_148-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|2/55|c.148-150_148-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|2/54|c.148-150_148-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|2/54|c.148-150_148-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME,CCATCCATCCATCCATCCATT|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|2/53|c.148-150_148-149insCCATCCATCCATTCATCCAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1693;p3_1000G_AF=0.338059;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=20548;p3_1000G_EAS_AF=0.5496;p3_1000G_EUR_AF=0.2018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71708852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:15:209,15,0
chr2	71515762	rs13428076;94361	T	C	429.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.108;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13428076;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|8/55|c.888+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|7/53|c.792+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|7/54|c.792+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|7/55|c.792+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|8/55|c.885+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|8/54|c.885+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|8/55|c.885+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|7/54|c.792+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|7/54|c.795+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|8/55|c.888+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|7/55|c.795+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|7/54|c.795+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|8/54|c.888+11T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|7/53|c.795+11T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=502;p3_1000G_AF=0.10024;p3_1000G_AFR_AF=0.1604;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=17597;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0.1322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71742892;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=656,3750;ESP6500_AA_AGE=765.5+/-413.4;ESP6500_AA_GTC=52,552,1599;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=72;ESP6500_EA_AC=1167,7433;ESP6500_EA_AGE=764.9+/-407.6;ESP6500_EA_GTC=98,971,3231;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71515762;ESP6500_GTC=150,1523,4830;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.792+11T>C,NM_001130987.1:c.888+11T>C,NM_001130986.1:c.795+11T>C,NM_001130985.1:c.888+11T>C,NM_001130984.1:c.795+11T>C,NM_001130983.1:c.795+11T>C,NM_001130982.1:c.888+11T>C,NM_001130981.1:c.885+11T>C,NM_001130980.1:c.885+11T>C,NM_001130979.1:c.885+11T>C,NM_001130978.1:c.792+11T>C,NM_001130977.1:c.792+11T>C,NM_001130976.1:c.792+11T>C,NM_001130455.1:c.795+11T>C;ESP6500_MAF=13.5698,14.8888,14.0166;ESP6500_TAC=1823,11183;CLINVAR_AF_ESP=0.1402;CLINVAR_AF_EXAC=0.11639;CLINVAR_AF_TGP=0.1002;CLINVAR_ALLELEID=100261;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230453|MedGen:CN239352;CLINVAR_CLNDN=not_specified|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.71515762T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25270;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13428076	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,18:33:99:0|1:71515762_T_C:458,0,305
chr2	71515848	rs13428194	T	C	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.95;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-2.07;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13428194;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|8/55|c.888+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|7/53|c.792+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|7/54|c.792+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|7/55|c.792+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|8/55|c.885+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|8/54|c.885+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|8/55|c.885+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|7/54|c.792+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|7/54|c.795+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|8/55|c.888+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|7/55|c.795+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|7/54|c.795+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|8/54|c.888+97T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|7/53|c.795+97T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=482;p3_1000G_AF=0.096246;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=18560;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71742978;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:298,0,246
chr2	71516112	rs28500662	G	A	469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.953;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=3.255;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.371;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28500662;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|8/55|c.889-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|7/53|c.793-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|7/54|c.793-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|7/55|c.793-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|8/55|c.886-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|8/54|c.886-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|8/55|c.886-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|7/54|c.793-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|7/54|c.796-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|8/55|c.889-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|7/55|c.796-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|7/54|c.796-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|8/54|c.889-68G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|7/53|c.796-68G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=96;p3_1000G_AF=0.0191693;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=20094;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71743242;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0245;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=23,1361;ESP6500_AA_GTC=0,23,669;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=161;ESP6500_EA_AC=125,3057;ESP6500_EA_GTC=2,121,1468;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71516112;ESP6500_GTC=2,144,2137;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.793-68G>A,NM_001130987.1:c.889-68G>A,NM_001130986.1:c.796-68G>A,NM_001130985.1:c.889-68G>A,NM_001130984.1:c.796-68G>A,NM_001130983.1:c.796-68G>A,NM_001130982.1:c.889-68G>A,NM_001130981.1:c.886-68G>A,NM_001130980.1:c.886-68G>A,NM_001130979.1:c.886-68G>A,NM_001130978.1:c.793-68G>A,NM_001130977.1:c.793-68G>A,NM_001130976.1:c.793-68G>A,NM_001130455.1:c.796-68G>A;ESP6500_MAF=3.9283,1.6618,3.2413;ESP6500_TAC=148,4418	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,18:42:99:1|0:71516102_G_T:498,0,720
chr2	71520105	rs11675897	A	G	535.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.06;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.191;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11675897;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|10/55|c.1003-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|9/53|c.907-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|9/54|c.907-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|9/55|c.907-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|10/55|c.1000-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|10/54|c.1000-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|10/55|c.1000-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|9/54|c.907-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|9/54|c.910-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|10/55|c.1003-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|9/55|c.910-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|9/54|c.910-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|10/54|c.1003-73A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|9/53|c.910-73A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3285;p3_1000G_AF=0.65595;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=18593;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71747235;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1213,171;ESP6500_AA_GTC=528,157,7;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=87;ESP6500_EA_AC=2613,569;ESP6500_EA_GTC=1057,499,35;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71520105;ESP6500_GTC=1585,656,42;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.907-73A>G,NM_001130987.1:c.1003-73A>G,NM_001130986.1:c.910-73A>G,NM_001130985.1:c.1003-73A>G,NM_001130984.1:c.910-73A>G,NM_001130983.1:c.910-73A>G,NM_001130982.1:c.1003-73A>G,NM_001130981.1:c.1000-73A>G,NM_001130980.1:c.1000-73A>G,NM_001130979.1:c.1000-73A>G,NM_001130978.1:c.907-73A>G,NM_001130977.1:c.907-73A>G,NM_001130976.1:c.907-73A>G,NM_001130455.1:c.910-73A>G;ESP6500_MAF=17.8818,12.3555,16.2067;ESP6500_TAC=3826,740	GT:AD:DP:GQ:PL	0/1:28,25:53:99:564,0,664
chr2	71520721	rs12713755	T	C	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.755;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12713755;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|11/55|c.1034-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|10/53|c.938-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|10/54|c.938-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|10/55|c.938-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|11/55|c.1031-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|11/54|c.1031-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|11/55|c.1031-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|10/54|c.938-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|10/54|c.941-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|11/55|c.1034-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|10/55|c.941-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|10/54|c.941-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|11/54|c.1034-68T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|10/53|c.941-68T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3286;p3_1000G_AF=0.65615;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=16784;p3_1000G_EAS_AF=0.2361;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71747851;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,7:16:99:0|1:71520721_T_C:267,0,535
chr2	71520725	rs55695728	C	T	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.395;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.063;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55695728;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|11/55|c.1034-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|10/53|c.938-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|10/54|c.938-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|10/55|c.938-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|11/55|c.1031-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|11/54|c.1031-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|11/55|c.1031-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|10/54|c.938-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|10/54|c.941-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|11/55|c.1034-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|10/55|c.941-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|10/54|c.941-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|11/54|c.1034-64C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|10/53|c.941-64C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=457;p3_1000G_AF=0.091254;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=16943;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71747855;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,7:16:99:0|1:71520721_T_C:267,0,535
chr2	71520958	rs56343439	C	T	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.592;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.228;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56343439;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|12/55|c.1149+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|11/53|c.1053+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|11/54|c.1053+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|11/55|c.1053+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|12/55|c.1146+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|12/54|c.1146+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|12/55|c.1146+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|11/54|c.1053+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|11/54|c.1056+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|12/55|c.1149+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|11/55|c.1056+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|11/54|c.1056+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|12/54|c.1149+54C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|11/53|c.1056+54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=356;p3_1000G_AF=0.0710863;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=17210;p3_1000G_EAS_AF=0.0179;p3_1000G_EUR_AF=0.0785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71748088;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,10:19:99:0|1:71520943_C_A:296,0,279
chr2	71528250	rs4852800;259065	A	G	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.551;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.269;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=-0.949;SOR=0.182;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4852800;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|13/55|c.1277-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|12/53|c.1181-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|12/54|c.1181-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|12/55|c.1181-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|13/55|c.1274-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|13/54|c.1274-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|13/55|c.1274-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|12/54|c.1181-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|12/54|c.1184-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|13/55|c.1277-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|12/55|c.1184-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|12/54|c.1184-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|13/54|c.1277-48A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|12/53|c.1184-48A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3287;p3_1000G_AF=0.65635;p3_1000G_AFR_AF=0.8949;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=19808;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.8489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71755380;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3902,504;ESP6500_AA_AGE=229.4+/-244.0;ESP6500_AA_GTC=1721,460,22;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=54;ESP6500_EA_AC=7110,1490;ESP6500_EA_AGE=270.9+/-289.3;ESP6500_EA_GTC=2937,1236,127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71528250;ESP6500_GTC=4658,1696,149;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.1181-48A>G,NM_001130987.1:c.1277-48A>G,NM_001130986.1:c.1184-48A>G,NM_001130985.1:c.1277-48A>G,NM_001130984.1:c.1184-48A>G,NM_001130983.1:c.1184-48A>G,NM_001130982.1:c.1277-48A>G,NM_001130981.1:c.1274-48A>G,NM_001130980.1:c.1274-48A>G,NM_001130979.1:c.1274-48A>G,NM_001130978.1:c.1181-48A>G,NM_001130977.1:c.1181-48A>G,NM_001130976.1:c.1181-48A>G,NM_001130455.1:c.1184-48A>G;ESP6500_MAF=17.3256,11.4389,15.3314;ESP6500_TAC=11012,1994;CLINVAR_ALLELEID=250776;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.71528250A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4852800	GT:AD:DP:GQ:PL	0/1:17,7:24:99:156,0,455
chr2	71535102	rs4852801;94268	C	T	782.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.152;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=3.248;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.164;SOR=0.725;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4852801;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|15/55|c.1449+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|14/53|c.1353+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|14/54|c.1353+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|14/55|c.1353+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|15/55|c.1446+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|15/54|c.1446+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|15/55|c.1446+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|14/54|c.1353+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|14/54|c.1356+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|15/55|c.1449+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|14/55|c.1356+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|14/54|c.1356+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|15/54|c.1449+13C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|14/53|c.1356+13C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2292;p3_1000G_AF=0.457668;p3_1000G_AFR_AF=0.4856;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=15677;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.67;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71762232;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2342,2064;ESP6500_AA_AGE=606.6+/-390.8;ESP6500_AA_GTC=628,1086,489;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=80;ESP6500_EA_AC=5838,2762;ESP6500_EA_AGE=679.0+/-403.5;ESP6500_EA_GTC=1970,1898,432;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71535102;ESP6500_GTC=2598,2984,921;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.1353+13C>T,NM_001130987.1:c.1449+13C>T,NM_001130986.1:c.1356+13C>T,NM_001130985.1:c.1449+13C>T,NM_001130984.1:c.1356+13C>T,NM_001130983.1:c.1356+13C>T,NM_001130982.1:c.1449+13C>T,NM_001130981.1:c.1446+13C>T,NM_001130980.1:c.1446+13C>T,NM_001130979.1:c.1446+13C>T,NM_001130978.1:c.1353+13C>T,NM_001130977.1:c.1353+13C>T,NM_001130976.1:c.1353+13C>T,NM_001130455.1:c.1356+13C>T;ESP6500_MAF=32.1163,46.8452,37.106;ESP6500_TAC=8180,4826;CLINVAR_AF_TGP=0.4577;CLINVAR_ALLELEID=100168;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230453|MedGen:CN239352;CLINVAR_CLNDN=not_specified|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.71535102C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25103;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4852801	GT:AD:DP:GQ:PL	0/1:36,33:69:99:811,0,1115
chr2	71535180	rs4852802	A	G	1018.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0.87;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.301;SOR=0.555;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4852802;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|15/55|c.1450-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|14/53|c.1354-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|14/54|c.1354-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|14/55|c.1354-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|15/55|c.1447-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|15/54|c.1447-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|15/55|c.1447-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|14/54|c.1354-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|14/54|c.1357-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|15/55|c.1450-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|14/55|c.1357-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|14/54|c.1357-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|15/54|c.1450-88A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|14/53|c.1357-88A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=2693;p3_1000G_AF=0.53774;p3_1000G_AFR_AF=0.6717;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=16228;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0.7157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71762310;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1047,0,993
chr2	71539357	rs7609409	G	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.297;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-0.852;SOR=1.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7609409;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|17/55|c.1576+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|16/53|c.1480+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|16/54|c.1480+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|16/55|c.1480+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|17/55|c.1573+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|17/54|c.1573+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|17/55|c.1573+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|16/54|c.1480+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|16/54|c.1483+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|17/55|c.1576+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|16/55|c.1483+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|16/54|c.1483+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|17/54|c.1576+118G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|16/53|c.1483+118G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2289;p3_1000G_AF=0.457069;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=17871;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71766487;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:328,0,209
chr2	71549215	rs736096	C	T	247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.552;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.65;ReadPosRankSum=0.899;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs736096;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|17/55|c.1577-1826C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|16/53|c.1481-1826C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|16/54|c.1481-1826C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|16/55|c.1481-135C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|17/55|c.1574-135C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|17/54|c.1574-1826C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|17/55|c.1574-1826C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|16/54|c.1481-135C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|16/54|c.1484-135C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|17/55|c.1577-135C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|16/55|c.1484-135C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|16/54|c.1484-1826C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|17/54|c.1577-1826C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|16/53|c.1484-1826C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2273;p3_1000G_AF=0.453874;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=14966;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71776345;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,7:12:99:0|1:71549215_C_T:276,0,318
chr2	71549216	rs934061	A	G	247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.06;ReadPosRankSum=1.3;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs934061;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|17/55|c.1577-1825A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|16/53|c.1481-1825A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|16/54|c.1481-1825A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|16/55|c.1481-134A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|17/55|c.1574-134A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|17/54|c.1574-1825A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|17/55|c.1574-1825A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|16/54|c.1481-134A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|16/54|c.1484-134A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|17/55|c.1577-134A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|16/55|c.1484-134A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|16/54|c.1484-1825A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|17/54|c.1577-1825A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|16/53|c.1484-1825A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3241;p3_1000G_AF=0.647165;p3_1000G_AFR_AF=0.8896;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=14966;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0.8559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71776346;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,7:13:99:0|1:71549215_C_T:276,0,318
chr2	71550938	rs2303592	G	A	165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.588;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.534;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303592;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|17/55|c.1577-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|16/53|c.1481-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|16/54|c.1481-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|17/55|c.1523-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|18/55|c.1616-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|17/54|c.1574-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|17/55|c.1574-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|17/54|c.1523-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|17/54|c.1526-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|18/55|c.1619-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|17/55|c.1526-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|16/54|c.1484-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|17/54|c.1577-103G>A||||||,A|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|16/53|c.1484-103G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=309;p3_1000G_AF=0.0617013;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=15160;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71778068;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:194,0,298
chr2	71552987	rs2303595;259066	C	G	577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.815;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.098;SOR=0.407;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303595;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|19/55|c.1807-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|18/53|c.1711-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|18/54|c.1711-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|19/55|c.1753-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|20/55|c.1846-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|19/54|c.1804-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|19/55|c.1804-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|19/54|c.1753-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|19/54|c.1756-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|20/55|c.1849-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|19/55|c.1756-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|18/54|c.1714-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|19/54|c.1807-24C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|18/53|c.1714-24C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=467;p3_1000G_AF=0.0932508;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=17811;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71780117;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=954,3452;ESP6500_AA_AGE=356.1+/-313.4;ESP6500_AA_GTC=108,738,1357;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=268,8332;ESP6500_EA_AGE=102.9+/-164.1;ESP6500_EA_GTC=6,256,4038;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71552987;ESP6500_GTC=114,994,5395;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.1753-24C>G,NM_001130987.1:c.1807-24C>G,NM_001130986.1:c.1714-24C>G,NM_001130985.1:c.1807-24C>G,NM_001130984.1:c.1714-24C>G,NM_001130983.1:c.1756-24C>G,NM_001130982.1:c.1849-24C>G,NM_001130981.1:c.1804-24C>G,NM_001130980.1:c.1804-24C>G,NM_001130979.1:c.1846-24C>G,NM_001130978.1:c.1753-24C>G,NM_001130977.1:c.1711-24C>G,NM_001130976.1:c.1711-24C>G,NM_001130455.1:c.1756-24C>G;ESP6500_MAF=3.1163,21.6523,9.3957;ESP6500_TAC=1222,11784;CLINVAR_AF_ESP=0.0940;CLINVAR_AF_EXAC=0.04990;CLINVAR_AF_TGP=0.0933;CLINVAR_ALLELEID=250777;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.71552987C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303595	GT:AD:DP:GQ:PL	0/1:20,24:44:99:606,0,551
chr2	71553085	rs2303596;94281	T	C	747.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.633;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.037;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-1.809;SOR=0.957;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303596;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|20/56|c.1881T>C|p.Asp627Asp|2022/6772|1881/6360|627/2119||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|19/54|c.1785T>C|p.Asp595Asp|2161/6848|1785/6201|595/2066||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|19/55|c.1785T>C|p.Asp595Asp|2161/6911|1785/6264|595/2087||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|20/56|c.1827T>C|p.Asp609Asp|2203/6953|1827/6306|609/2101||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|21/56|c.1920T>C|p.Asp640Asp|2296/6983|1920/6336|640/2111||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|20/55|c.1878T>C|p.Asp626Asp|2254/6941|1878/6294|626/2097||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|20/56|c.1878T>C|p.Asp626Asp|2254/7004|1878/6357|626/2118||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_003494.3|protein_coding|20/55|c.1827T>C|p.Asp609Asp|2203/6890|1827/6243|609/2080||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|20/55|c.1830T>C|p.Asp610Asp|1971/6658|1830/6246|610/2081||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|21/56|c.1923T>C|p.Asp641Asp|2064/6751|1923/6339|641/2112||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|20/56|c.1830T>C|p.Asp610Asp|1971/6721|1830/6309|610/2102||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|19/55|c.1788T>C|p.Asp596Asp|1929/6679|1788/6267|596/2088||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|20/55|c.1881T>C|p.Asp627Asp|2022/6709|1881/6297|627/2098||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|19/54|c.1788T>C|p.Asp596Asp|1929/6616|1788/6204|596/2067||;p3_1000G_AA=C|||;p3_1000G_AC=2882;p3_1000G_AF=0.575479;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=19523;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.7336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71780215;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3451,955;ESP6500_AA_AGE=363.9+/-316.7;ESP6500_AA_GTC=1351,749,103;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-1.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=105;ESP6500_EA_AC=6107,2493;ESP6500_EA_AGE=409.6+/-349.9;ESP6500_EA_GTC=2178,1751,371;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:coding-synonymous,NM_001130987.1:coding-synonymous,NM_001130986.1:coding-synonymous,NM_001130985.1:coding-synonymous,NM_001130984.1:coding-synonymous,NM_001130983.1:coding-synonymous,NM_001130982.1:coding-synonymous,NM_001130981.1:coding-synonymous,NM_001130980.1:coding-synonymous,NM_001130979.1:coding-synonymous,NM_001130978.1:coding-synonymous,NM_001130977.1:coding-synonymous,NM_001130976.1:coding-synonymous,NM_001130455.1:coding-synonymous;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71553085;ESP6500_GTC=3529,2500,474;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.1827T>C,NM_001130987.1:c.1881T>C,NM_001130986.1:c.1788T>C,NM_001130985.1:c.1881T>C,NM_001130984.1:c.1788T>C,NM_001130983.1:c.1830T>C,NM_001130982.1:c.1923T>C,NM_001130981.1:c.1878T>C,NM_001130980.1:c.1878T>C,NM_001130979.1:c.1920T>C,NM_001130978.1:c.1827T>C,NM_001130977.1:c.1785T>C,NM_001130976.1:c.1785T>C,NM_001130455.1:c.1830T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003494.3:p.(D609),NM_001130987.1:p.(D627),NM_001130986.1:p.(D596),NM_001130985.1:p.(D627),NM_001130984.1:p.(D596),NM_001130983.1:p.(D610),NM_001130982.1:p.(D641),NM_001130981.1:p.(D626),NM_001130980.1:p.(D626),NM_001130979.1:p.(D640),NM_001130978.1:p.(D609),NM_001130977.1:p.(D595),NM_001130976.1:p.(D595),NM_001130455.1:p.(D610);ESP6500_MAF=28.9884,21.675,26.5108;ESP6500_TAC=9558,3448;CLINVAR_ALLELEID=100181;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230453|MedGen:CN239352;CLINVAR_CLNDN=not_specified|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.71553085T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25108;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303596	GT:AD:DP:GQ:PL	0/1:26,30:56:99:776,0,687
chr2	71553118	rs35721373;94282	C	T	518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.119;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-1.07;SOR=0.555;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35721373;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|20/56|c.1914C>T|p.Tyr638Tyr|2055/6772|1914/6360|638/2119||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|19/54|c.1818C>T|p.Tyr606Tyr|2194/6848|1818/6201|606/2066||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|19/55|c.1818C>T|p.Tyr606Tyr|2194/6911|1818/6264|606/2087||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|20/56|c.1860C>T|p.Tyr620Tyr|2236/6953|1860/6306|620/2101||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|21/56|c.1953C>T|p.Tyr651Tyr|2329/6983|1953/6336|651/2111||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|20/55|c.1911C>T|p.Tyr637Tyr|2287/6941|1911/6294|637/2097||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|20/56|c.1911C>T|p.Tyr637Tyr|2287/7004|1911/6357|637/2118||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_003494.3|protein_coding|20/55|c.1860C>T|p.Tyr620Tyr|2236/6890|1860/6243|620/2080||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|20/55|c.1863C>T|p.Tyr621Tyr|2004/6658|1863/6246|621/2081||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|21/56|c.1956C>T|p.Tyr652Tyr|2097/6751|1956/6339|652/2112||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|20/56|c.1863C>T|p.Tyr621Tyr|2004/6721|1863/6309|621/2102||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|19/55|c.1821C>T|p.Tyr607Tyr|1962/6679|1821/6267|607/2088||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|20/55|c.1914C>T|p.Tyr638Tyr|2055/6709|1914/6297|638/2098||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|19/54|c.1821C>T|p.Tyr607Tyr|1962/6616|1821/6204|607/2067||;p3_1000G_AA=c|||;p3_1000G_AC=179;p3_1000G_AF=0.0357428;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=18980;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71780248;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=209,4197;ESP6500_AA_AGE=129.0+/-165.8;ESP6500_AA_GTC=5,199,1999;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-5.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=115;ESP6500_EA_AC=261,8339;ESP6500_EA_AGE=102.3+/-163.5;ESP6500_EA_GTC=5,251,4044;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:coding-synonymous,NM_001130987.1:coding-synonymous,NM_001130986.1:coding-synonymous,NM_001130985.1:coding-synonymous,NM_001130984.1:coding-synonymous,NM_001130983.1:coding-synonymous,NM_001130982.1:coding-synonymous,NM_001130981.1:coding-synonymous,NM_001130980.1:coding-synonymous,NM_001130979.1:coding-synonymous,NM_001130978.1:coding-synonymous,NM_001130977.1:coding-synonymous,NM_001130976.1:coding-synonymous,NM_001130455.1:coding-synonymous;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71553118;ESP6500_GTC=10,450,6043;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.1860C>T,NM_001130987.1:c.1914C>T,NM_001130986.1:c.1821C>T,NM_001130985.1:c.1914C>T,NM_001130984.1:c.1821C>T,NM_001130983.1:c.1863C>T,NM_001130982.1:c.1956C>T,NM_001130981.1:c.1911C>T,NM_001130980.1:c.1911C>T,NM_001130979.1:c.1953C>T,NM_001130978.1:c.1860C>T,NM_001130977.1:c.1818C>T,NM_001130976.1:c.1818C>T,NM_001130455.1:c.1863C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003494.3:p.(Y620),NM_001130987.1:p.(Y638),NM_001130986.1:p.(Y607),NM_001130985.1:p.(Y638),NM_001130984.1:p.(Y607),NM_001130983.1:p.(Y621),NM_001130982.1:p.(Y652),NM_001130981.1:p.(Y637),NM_001130980.1:p.(Y637),NM_001130979.1:p.(Y651),NM_001130978.1:p.(Y620),NM_001130977.1:p.(Y606),NM_001130976.1:p.(Y606),NM_001130455.1:p.(Y621);ESP6500_MAF=3.0349,4.7435,3.6137;ESP6500_TAC=470,12536;CLINVAR_AF_ESP=0.0361;CLINVAR_AF_EXAC=0.03053;CLINVAR_AF_TGP=0.0357;CLINVAR_ALLELEID=100182;CLINVAR_CLNDISDB=MedGen:C2931687,Orphanet:ORPHA207073|MedGen:CN169374|MedGen:CN230453|MedGen:CN239352;CLINVAR_CLNDN=Dysferlinopathy|not_specified|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.71553118C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25317;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35721373	GT:AD:DP:GQ:PL	0/1:29,24:53:99:547,0,734
chr2	71568022	rs2288355;94290	A	T	867.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.08;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.662;SOR=0.714;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288355;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|25/56|c.2637A>T|p.Ser879Ser|2778/6772|2637/6360|879/2119||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|24/54|c.2541A>T|p.Ser847Ser|2917/6848|2541/6201|847/2066||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|24/55|c.2541A>T|p.Ser847Ser|2917/6911|2541/6264|847/2087||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|25/56|c.2583A>T|p.Ser861Ser|2959/6953|2583/6306|861/2101||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|26/56|c.2676A>T|p.Ser892Ser|3052/6983|2676/6336|892/2111||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|25/55|c.2634A>T|p.Ser878Ser|3010/6941|2634/6294|878/2097||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|25/56|c.2634A>T|p.Ser878Ser|3010/7004|2634/6357|878/2118||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_003494.3|protein_coding|25/55|c.2583A>T|p.Ser861Ser|2959/6890|2583/6243|861/2080||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|25/55|c.2586A>T|p.Ser862Ser|2727/6658|2586/6246|862/2081||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|26/56|c.2679A>T|p.Ser893Ser|2820/6751|2679/6339|893/2112||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|25/56|c.2586A>T|p.Ser862Ser|2727/6721|2586/6309|862/2102||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|24/55|c.2544A>T|p.Ser848Ser|2685/6679|2544/6267|848/2088||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|25/55|c.2637A>T|p.Ser879Ser|2778/6709|2637/6297|879/2098||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|24/54|c.2544A>T|p.Ser848Ser|2685/6616|2544/6204|848/2067||;p3_1000G_AA=T|||;p3_1000G_AC=2757;p3_1000G_AF=0.550519;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=17834;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.663;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71795152;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3563,843;ESP6500_AA_AGE=332.0+/-302.3;ESP6500_AA_GTC=1435,693,75;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=160;ESP6500_EA_AC=5752,2848;ESP6500_EA_AGE=447.7+/-361.6;ESP6500_EA_GTC=1923,1906,471;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:coding-synonymous,NM_001130987.1:coding-synonymous,NM_001130986.1:coding-synonymous,NM_001130985.1:coding-synonymous,NM_001130984.1:coding-synonymous,NM_001130983.1:coding-synonymous,NM_001130982.1:coding-synonymous,NM_001130981.1:coding-synonymous,NM_001130980.1:coding-synonymous,NM_001130979.1:coding-synonymous,NM_001130978.1:coding-synonymous,NM_001130977.1:coding-synonymous,NM_001130976.1:coding-synonymous,NM_001130455.1:coding-synonymous;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71568022;ESP6500_GTC=3358,2599,546;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.2583A>T,NM_001130987.1:c.2637A>T,NM_001130986.1:c.2544A>T,NM_001130985.1:c.2637A>T,NM_001130984.1:c.2544A>T,NM_001130983.1:c.2586A>T,NM_001130982.1:c.2679A>T,NM_001130981.1:c.2634A>T,NM_001130980.1:c.2634A>T,NM_001130979.1:c.2676A>T,NM_001130978.1:c.2583A>T,NM_001130977.1:c.2541A>T,NM_001130976.1:c.2541A>T,NM_001130455.1:c.2586A>T;ESP6500_HGVS_PROTEIN_VAR=NM_003494.3:p.(S861),NM_001130987.1:p.(S879),NM_001130986.1:p.(S848),NM_001130985.1:p.(S879),NM_001130984.1:p.(S848),NM_001130983.1:p.(S862),NM_001130982.1:p.(S893),NM_001130981.1:p.(S878),NM_001130980.1:p.(S878),NM_001130979.1:p.(S892),NM_001130978.1:p.(S861),NM_001130977.1:p.(S847),NM_001130976.1:p.(S847),NM_001130455.1:p.(S862);ESP6500_MAF=33.1163,19.133,28.3792;ESP6500_TAC=9315,3691;CLINVAR_ALLELEID=100190;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230453|MedGen:CN239352;CLINVAR_CLNDN=not_specified|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.71568022A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25119;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288355	GT:AD:DP:GQ:PL	0/1:39,34:73:99:896,0,969
chr2	71569735	rs10205023	C	G	179.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.59;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10205023;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|26/55|c.2865-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|25/53|c.2769-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|25/54|c.2769-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|26/55|c.2811-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|27/55|c.2904-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|26/54|c.2862-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|26/55|c.2862-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|26/54|c.2811-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|26/54|c.2814-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|27/55|c.2907-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|26/55|c.2814-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|25/54|c.2772-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|26/54|c.2865-85C>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|25/53|c.2772-85C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=3539;p3_1000G_AF=0.706669;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=15480;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.7555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71796865;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:208,15,0
chr2	71570046	rs10183967	A	C	1148.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.54;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10183967;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|27/55|c.2979+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|26/53|c.2883+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|26/54|c.2883+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|27/55|c.2925+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|28/55|c.3018+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|27/54|c.2976+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|27/55|c.2976+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|27/54|c.2925+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|27/54|c.2928+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|28/55|c.3021+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|27/55|c.2928+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|26/54|c.2886+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|27/54|c.2979+112A>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|26/53|c.2886+112A>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=2665;p3_1000G_AF=0.532149;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=18678;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71797176;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1177,93,0
chr2	71574236	rs150355624;167022	C	T	823.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.51;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.419;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150355624;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|30/56|c.3267C>T|p.Tyr1089Tyr|3408/6772|3267/6360|1089/2119||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|29/54|c.3171C>T|p.Tyr1057Tyr|3547/6848|3171/6201|1057/2066||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|29/55|c.3171C>T|p.Tyr1057Tyr|3547/6911|3171/6264|1057/2087||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|30/56|c.3213C>T|p.Tyr1071Tyr|3589/6953|3213/6306|1071/2101||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|31/56|c.3306C>T|p.Tyr1102Tyr|3682/6983|3306/6336|1102/2111||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|30/55|c.3264C>T|p.Tyr1088Tyr|3640/6941|3264/6294|1088/2097||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|30/56|c.3264C>T|p.Tyr1088Tyr|3640/7004|3264/6357|1088/2118||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_003494.3|protein_coding|30/55|c.3213C>T|p.Tyr1071Tyr|3589/6890|3213/6243|1071/2080||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|30/55|c.3216C>T|p.Tyr1072Tyr|3357/6658|3216/6246|1072/2081||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|31/56|c.3309C>T|p.Tyr1103Tyr|3450/6751|3309/6339|1103/2112||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|30/56|c.3216C>T|p.Tyr1072Tyr|3357/6721|3216/6309|1072/2102||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|29/55|c.3174C>T|p.Tyr1058Tyr|3315/6679|3174/6267|1058/2088||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|30/55|c.3267C>T|p.Tyr1089Tyr|3408/6709|3267/6297|1089/2098||,T|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|29/54|c.3174C>T|p.Tyr1058Tyr|3315/6616|3174/6204|1058/2067||;p3_1000G_AA=C|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14494;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71801366;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-7.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=72;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:coding-synonymous,NM_001130987.1:coding-synonymous,NM_001130986.1:coding-synonymous,NM_001130985.1:coding-synonymous,NM_001130984.1:coding-synonymous,NM_001130983.1:coding-synonymous,NM_001130982.1:coding-synonymous,NM_001130981.1:coding-synonymous,NM_001130980.1:coding-synonymous,NM_001130979.1:coding-synonymous,NM_001130978.1:coding-synonymous,NM_001130977.1:coding-synonymous,NM_001130976.1:coding-synonymous,NM_001130455.1:coding-synonymous;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71574236;ESP6500_GTC=0,1,6502;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.3213C>T,NM_001130987.1:c.3267C>T,NM_001130986.1:c.3174C>T,NM_001130985.1:c.3267C>T,NM_001130984.1:c.3174C>T,NM_001130983.1:c.3216C>T,NM_001130982.1:c.3309C>T,NM_001130981.1:c.3264C>T,NM_001130980.1:c.3264C>T,NM_001130979.1:c.3306C>T,NM_001130978.1:c.3213C>T,NM_001130977.1:c.3171C>T,NM_001130976.1:c.3171C>T,NM_001130455.1:c.3216C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003494.3:p.(Y1071),NM_001130987.1:p.(Y1089),NM_001130986.1:p.(Y1058),NM_001130985.1:p.(Y1089),NM_001130984.1:p.(Y1058),NM_001130983.1:p.(Y1072),NM_001130982.1:p.(Y1103),NM_001130981.1:p.(Y1088),NM_001130980.1:p.(Y1088),NM_001130979.1:p.(Y1102),NM_001130978.1:p.(Y1071),NM_001130977.1:p.(Y1057),NM_001130976.1:p.(Y1057),NM_001130455.1:p.(Y1072);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_TAC=1,13005;CLINVAR_AF_ESP=0.0001;CLINVAR_AF_EXAC=0.00032;CLINVAR_AF_TGP=0.0010;CLINVAR_ALLELEID=177687;CLINVAR_CLNDISDB=MedGen:C2931687,Orphanet:ORPHA207073|MedGen:CN169374;CLINVAR_CLNDN=Dysferlinopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.71574236C>T;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(1),Likely_benign(1),Uncertain_significance(1);CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=150355624	GT:AD:DP:GQ:PL	0/1:27,34:61:99:852,0,746
chr2	71602691	rs1529408	G	T	654.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=2.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=0.572;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1529408;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|35/55|c.3928-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|34/53|c.3832-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|34/54|c.3832-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|35/55|c.3874-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|36/55|c.3967-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|35/54|c.3925-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|35/55|c.3925-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|35/54|c.3874-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|35/54|c.3877-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|36/55|c.3970-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|35/55|c.3877-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|34/54|c.3835-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|35/54|c.3928-85G>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|34/53|c.3835-85G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=19331;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71829821;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1372,12;ESP6500_AA_GTC=680,12,0;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=1.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=31;ESP6500_EA_AC=3029,153;ESP6500_EA_GTC=1441,147,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71602691;ESP6500_GTC=2121,159,3;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.3874-85G>T,NM_001130987.1:c.3928-85G>T,NM_001130986.1:c.3835-85G>T,NM_001130985.1:c.3928-85G>T,NM_001130984.1:c.3835-85G>T,NM_001130983.1:c.3877-85G>T,NM_001130982.1:c.3970-85G>T,NM_001130981.1:c.3925-85G>T,NM_001130980.1:c.3925-85G>T,NM_001130979.1:c.3967-85G>T,NM_001130978.1:c.3874-85G>T,NM_001130977.1:c.3832-85G>T,NM_001130976.1:c.3832-85G>T,NM_001130455.1:c.3877-85G>T;ESP6500_MAF=4.8083,0.8671,3.6137;ESP6500_TAC=4401,165	GT:AD:DP:GQ:PL	0/1:13,23:36:99:683,0,333
chr2	71611467	rs2303606;94316	C	A	2645.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2303606;dbSNPBuildID=100;ANN=A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|38/56|c.4062C>A|p.Ile1354Ile|4203/6772|4062/6360|1354/2119||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|37/54|c.3966C>A|p.Ile1322Ile|4342/6848|3966/6201|1322/2066||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|37/55|c.3966C>A|p.Ile1322Ile|4342/6911|3966/6264|1322/2087||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|38/56|c.4008C>A|p.Ile1336Ile|4384/6953|4008/6306|1336/2101||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|39/56|c.4101C>A|p.Ile1367Ile|4477/6983|4101/6336|1367/2111||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|38/55|c.4059C>A|p.Ile1353Ile|4435/6941|4059/6294|1353/2097||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|38/56|c.4059C>A|p.Ile1353Ile|4435/7004|4059/6357|1353/2118||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_003494.3|protein_coding|38/55|c.4008C>A|p.Ile1336Ile|4384/6890|4008/6243|1336/2080||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|38/55|c.4011C>A|p.Ile1337Ile|4152/6658|4011/6246|1337/2081||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|39/56|c.4104C>A|p.Ile1368Ile|4245/6751|4104/6339|1368/2112||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|38/56|c.4011C>A|p.Ile1337Ile|4152/6721|4011/6309|1337/2102||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|37/55|c.3969C>A|p.Ile1323Ile|4110/6679|3969/6267|1323/2088||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|38/55|c.4062C>A|p.Ile1354Ile|4203/6709|4062/6297|1354/2098||,A|splice_region_variant&synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|37/54|c.3969C>A|p.Ile1323Ile|4110/6616|3969/6204|1323/2067||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130987.1|protein_coding|38/56|c.4062C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130978.1|protein_coding|38/56|c.4008C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130979.1|protein_coding|39/56|c.4101C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130980.1|protein_coding|38/55|c.4059C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130981.1|protein_coding|38/56|c.4059C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130455.1|protein_coding|38/55|c.4011C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130982.1|protein_coding|39/56|c.4104C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130983.1|protein_coding|38/56|c.4011C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130984.1|protein_coding|37/55|c.3969C>A||||||,A|sequence_feature|LOW|DYSF|DYSF|domain:C2_5|NM_001130985.1|protein_coding|38/55|c.4062C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2251;p3_1000G_AF=0.449481;p3_1000G_AFR_AF=0.3585;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=17324;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.5378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71838597;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1741,2665;ESP6500_AA_AGE=514.2+/-368.6;ESP6500_AA_GTC=338,1065,800;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=4392,4208;ESP6500_EA_AGE=577.1+/-390.5;ESP6500_EA_GTC=1120,2152,1028;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:coding-synonymous,NM_001130987.1:coding-synonymous,NM_001130986.1:coding-synonymous,NM_001130985.1:coding-synonymous,NM_001130984.1:coding-synonymous,NM_001130983.1:coding-synonymous,NM_001130982.1:coding-synonymous,NM_001130981.1:coding-synonymous,NM_001130980.1:coding-synonymous,NM_001130979.1:coding-synonymous,NM_001130978.1:coding-synonymous,NM_001130977.1:coding-synonymous,NM_001130976.1:coding-synonymous,NM_001130455.1:coding-synonymous;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71611467;ESP6500_GTC=1458,3217,1828;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.4008C>A,NM_001130987.1:c.4062C>A,NM_001130986.1:c.3969C>A,NM_001130985.1:c.4062C>A,NM_001130984.1:c.3969C>A,NM_001130983.1:c.4011C>A,NM_001130982.1:c.4104C>A,NM_001130981.1:c.4059C>A,NM_001130980.1:c.4059C>A,NM_001130979.1:c.4101C>A,NM_001130978.1:c.4008C>A,NM_001130977.1:c.3966C>A,NM_001130976.1:c.3966C>A,NM_001130455.1:c.4011C>A;ESP6500_HGVS_PROTEIN_VAR=NM_003494.3:p.(I1336),NM_001130987.1:p.(I1354),NM_001130986.1:p.(I1323),NM_001130985.1:p.(I1354),NM_001130984.1:p.(I1323),NM_001130983.1:p.(I1337),NM_001130982.1:p.(I1368),NM_001130981.1:p.(I1353),NM_001130980.1:p.(I1353),NM_001130979.1:p.(I1367),NM_001130978.1:p.(I1336),NM_001130977.1:p.(I1322),NM_001130976.1:p.(I1322),NM_001130455.1:p.(I1337);ESP6500_MAF=48.9302,39.5143,47.1552;ESP6500_TAC=6133,6873;CLINVAR_AF_ESP=0.4716;CLINVAR_AF_TGP=0.4495;CLINVAR_ALLELEID=100216;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230453|MedGen:CN239352;CLINVAR_CLNDN=not_specified|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.71611467C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25124;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303606	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2674,249,0
chr2	71643909	rs84181	A	G	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.84;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.4;ReadPosRankSum=0.518;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs84181;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|41/55|c.4528-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|39/53|c.4369-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|40/54|c.4432-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|41/55|c.4474-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|41/55|c.4504-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|40/54|c.4462-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|41/55|c.4525-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|40/54|c.4411-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|40/54|c.4414-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|41/55|c.4507-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|41/55|c.4477-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|40/54|c.4435-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|40/54|c.4465-56A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|39/53|c.4372-56A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4130;p3_1000G_AF=0.824681;p3_1000G_AFR_AF=0.857;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=19224;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.8817;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71871039;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,3:12:93:93,0,228
chr2	71644106	rs84182;259080	A	G	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.963;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=1.53;SOR=0.56;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs84182;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|42/55|c.4626+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|40/53|c.4467+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|41/54|c.4530+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|42/55|c.4572+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|42/55|c.4602+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|41/54|c.4560+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|42/55|c.4623+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|41/54|c.4509+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|41/54|c.4512+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|42/55|c.4605+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|42/55|c.4575+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|41/54|c.4533+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|41/54|c.4563+43A>G||||||,G|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|40/53|c.4470+43A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4198;p3_1000G_AF=0.838259;p3_1000G_AFR_AF=0.9002;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=19041;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.8827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71871236;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3985,421;ESP6500_AA_GTC=1798,389,16;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=36;ESP6500_EA_AC=7586,1014;ESP6500_EA_GTC=3349,888,63;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71644106;ESP6500_GTC=5147,1277,79;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.4509+43A>G,NM_001130987.1:c.4626+43A>G,NM_001130986.1:c.4470+43A>G,NM_001130985.1:c.4563+43A>G,NM_001130984.1:c.4533+43A>G,NM_001130983.1:c.4575+43A>G,NM_001130982.1:c.4605+43A>G,NM_001130981.1:c.4623+43A>G,NM_001130980.1:c.4560+43A>G,NM_001130979.1:c.4602+43A>G,NM_001130978.1:c.4572+43A>G,NM_001130977.1:c.4530+43A>G,NM_001130976.1:c.4467+43A>G,NM_001130455.1:c.4512+43A>G;ESP6500_MAF=11.7907,9.5552,11.0334;ESP6500_TAC=11571,1435;CLINVAR_ALLELEID=250790;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.71644106A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=84182	GT:AD:DP:GQ:PL	0/1:8,13:21:99:379,0,183
chr2	71664231	rs2303599;259081	C	T	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.516;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=4.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.19;SOR=2.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303599;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|45/55|c.5004-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|43/53|c.4845-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|44/54|c.4908-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|45/55|c.4950-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|45/55|c.4980-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|44/54|c.4938-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|45/55|c.5001-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|44/54|c.4887-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|44/54|c.4890-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|45/55|c.4983-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|45/55|c.4953-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|44/54|c.4911-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|44/54|c.4941-37C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|43/53|c.4848-37C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3730;p3_1000G_AF=0.744808;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=19243;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71891361;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8088;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3056,1350;ESP6500_AA_AGE=690.9+/-405.3;ESP6500_AA_GTC=1066,924,213;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=46;ESP6500_EA_AC=7500,1100;ESP6500_EA_AGE=764.1+/-407.6;ESP6500_EA_GTC=3277,946,77;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71664231;ESP6500_GTC=4343,1870,290;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.4887-37C>T,NM_001130987.1:c.5004-37C>T,NM_001130986.1:c.4848-37C>T,NM_001130985.1:c.4941-37C>T,NM_001130984.1:c.4911-37C>T,NM_001130983.1:c.4953-37C>T,NM_001130982.1:c.4983-37C>T,NM_001130981.1:c.5001-37C>T,NM_001130980.1:c.4938-37C>T,NM_001130979.1:c.4980-37C>T,NM_001130978.1:c.4950-37C>T,NM_001130977.1:c.4908-37C>T,NM_001130976.1:c.4845-37C>T,NM_001130455.1:c.4890-37C>T;ESP6500_MAF=12.7907,30.64,18.8375;ESP6500_TAC=10556,2450;CLINVAR_ALLELEID=250791;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.71664231C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303599	GT:AD:DP:GQ:PL	0/1:11,11:22:99:294,0,278
chr2	71674156	rs2559081;259082	C	T	1095.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2559081;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|51/55|c.5785-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|49/53|c.5626-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|50/54|c.5689-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|51/55|c.5731-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|51/55|c.5761-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|50/54|c.5719-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|51/55|c.5782-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|50/54|c.5668-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|50/54|c.5671-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|51/55|c.5764-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|51/55|c.5734-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|50/54|c.5692-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|50/54|c.5722-41C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|49/53|c.5629-41C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3646;p3_1000G_AF=0.728035;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=22145;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.8618;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71901286;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2700,1706;ESP6500_AA_AGE=641.0+/-397.4;ESP6500_AA_GTC=839,1022,342;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=7445,1155;ESP6500_EA_AGE=761.1+/-407.6;ESP6500_EA_GTC=3224,997,79;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71674156;ESP6500_GTC=4063,2019,421;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.5668-41C>T,NM_001130987.1:c.5785-41C>T,NM_001130986.1:c.5629-41C>T,NM_001130985.1:c.5722-41C>T,NM_001130984.1:c.5692-41C>T,NM_001130983.1:c.5734-41C>T,NM_001130982.1:c.5764-41C>T,NM_001130981.1:c.5782-41C>T,NM_001130980.1:c.5719-41C>T,NM_001130979.1:c.5761-41C>T,NM_001130978.1:c.5731-41C>T,NM_001130977.1:c.5689-41C>T,NM_001130976.1:c.5626-41C>T,NM_001130455.1:c.5671-41C>T;ESP6500_MAF=13.4302,38.7199,21.9975;ESP6500_TAC=10145,2861;CLINVAR_ALLELEID=250792;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.71674156C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2559081	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1124,105,0
chr2	71679041	rs1863812;94346	T	C	1085.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.93;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1863812;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|52/55|c.5885-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|50/53|c.5726-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|51/54|c.5789-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|52/55|c.5831-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|52/55|c.5861-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|51/54|c.5819-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|52/55|c.5882-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|51/54|c.5768-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|51/54|c.5771-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|52/55|c.5864-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|52/55|c.5834-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|51/54|c.5792-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|51/54|c.5822-16T>C||||||,C|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|50/53|c.5729-16T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4398;p3_1000G_AF=0.878195;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=17732;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71906171;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4274,132;ESP6500_AA_AGE=93.9+/-132.6;ESP6500_AA_GTC=2073,128,2;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=74;ESP6500_EA_AC=7731,869;ESP6500_EA_AGE=196.8+/-241.6;ESP6500_EA_GTC=3472,787,41;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71679041;ESP6500_GTC=5545,915,43;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.5768-16T>C,NM_001130987.1:c.5885-16T>C,NM_001130986.1:c.5729-16T>C,NM_001130985.1:c.5822-16T>C,NM_001130984.1:c.5792-16T>C,NM_001130983.1:c.5834-16T>C,NM_001130982.1:c.5864-16T>C,NM_001130981.1:c.5882-16T>C,NM_001130980.1:c.5819-16T>C,NM_001130979.1:c.5861-16T>C,NM_001130978.1:c.5831-16T>C,NM_001130977.1:c.5789-16T>C,NM_001130976.1:c.5726-16T>C,NM_001130455.1:c.5771-16T>C;ESP6500_MAF=10.1047,2.9959,7.6964;ESP6500_TAC=12005,1001;CLINVAR_ALLELEID=100246;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.71679041T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1863812	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1114,96,0
chr2	71679148	rs17718530;94348	A	C	468.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.735;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.033;SOR=0.798;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17718530;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|53/56|c.5976A>C|p.Pro1992Pro|6117/6772|5976/6360|1992/2119||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|51/54|c.5817A>C|p.Pro1939Pro|6193/6848|5817/6201|1939/2066||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|52/55|c.5880A>C|p.Pro1960Pro|6256/6911|5880/6264|1960/2087||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|53/56|c.5922A>C|p.Pro1974Pro|6298/6953|5922/6306|1974/2101||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|53/56|c.5952A>C|p.Pro1984Pro|6328/6983|5952/6336|1984/2111||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|52/55|c.5910A>C|p.Pro1970Pro|6286/6941|5910/6294|1970/2097||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|53/56|c.5973A>C|p.Pro1991Pro|6349/7004|5973/6357|1991/2118||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_003494.3|protein_coding|52/55|c.5859A>C|p.Pro1953Pro|6235/6890|5859/6243|1953/2080||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|52/55|c.5862A>C|p.Pro1954Pro|6003/6658|5862/6246|1954/2081||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|53/56|c.5955A>C|p.Pro1985Pro|6096/6751|5955/6339|1985/2112||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|53/56|c.5925A>C|p.Pro1975Pro|6066/6721|5925/6309|1975/2102||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|52/55|c.5883A>C|p.Pro1961Pro|6024/6679|5883/6267|1961/2088||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|52/55|c.5913A>C|p.Pro1971Pro|6054/6709|5913/6297|1971/2098||,C|synonymous_variant|LOW|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|51/54|c.5820A>C|p.Pro1940Pro|5961/6616|5820/6204|1940/2067||;p3_1000G_AA=A|||;p3_1000G_AC=846;p3_1000G_AF=0.16893;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=19686;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71906278;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=758,3648;ESP6500_AA_AGE=310.0+/-291.3;ESP6500_AA_GTC=63,632,1508;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-10.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=126;ESP6500_EA_AC=2153,6447;ESP6500_EA_AGE=369.4+/-335.5;ESP6500_EA_GTC=282,1589,2429;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:coding-synonymous,NM_001130987.1:coding-synonymous,NM_001130986.1:coding-synonymous,NM_001130985.1:coding-synonymous,NM_001130984.1:coding-synonymous,NM_001130983.1:coding-synonymous,NM_001130982.1:coding-synonymous,NM_001130981.1:coding-synonymous,NM_001130980.1:coding-synonymous,NM_001130979.1:coding-synonymous,NM_001130978.1:coding-synonymous,NM_001130977.1:coding-synonymous,NM_001130976.1:coding-synonymous,NM_001130455.1:coding-synonymous;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71679148;ESP6500_GTC=345,2221,3937;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.5859A>C,NM_001130987.1:c.5976A>C,NM_001130986.1:c.5820A>C,NM_001130985.1:c.5913A>C,NM_001130984.1:c.5883A>C,NM_001130983.1:c.5925A>C,NM_001130982.1:c.5955A>C,NM_001130981.1:c.5973A>C,NM_001130980.1:c.5910A>C,NM_001130979.1:c.5952A>C,NM_001130978.1:c.5922A>C,NM_001130977.1:c.5880A>C,NM_001130976.1:c.5817A>C,NM_001130455.1:c.5862A>C;ESP6500_HGVS_PROTEIN_VAR=NM_003494.3:p.(P1953),NM_001130987.1:p.(P1992),NM_001130986.1:p.(P1940),NM_001130985.1:p.(P1971),NM_001130984.1:p.(P1961),NM_001130983.1:p.(P1975),NM_001130982.1:p.(P1985),NM_001130981.1:p.(P1991),NM_001130980.1:p.(P1970),NM_001130979.1:p.(P1984),NM_001130978.1:p.(P1974),NM_001130977.1:p.(P1960),NM_001130976.1:p.(P1939),NM_001130455.1:p.(P1954);ESP6500_MAF=25.0349,17.2038,22.382;ESP6500_TAC=2911,10095;CLINVAR_AF_ESP=0.2238;CLINVAR_AF_EXAC=0.21779;CLINVAR_AF_TGP=0.1689;CLINVAR_ALLELEID=100248;CLINVAR_CLNDISDB=MedGen:C1847532,OMIM:606768,Orphanet:ORPHA178400|MedGen:C1850808,OMIM:254130,Orphanet:ORPHA45448|MedGen:C1850889,OMIM:253601,Orphanet:ORPHA268|MedGen:CN169374|MedGen:CN230453|MedGen:CN239352;CLINVAR_CLNDN=Myopathy,_distal,_with_anterior_tibial_onset|Miyoshi_muscular_dystrophy_1|Limb-girdle_muscular_dystrophy,_type_2B|not_specified|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.71679148A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:6920|Illumina_Clinical_Services_Laboratory,Illumina:25336;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17718530	GT:AD:DP:GQ:PL	0/1:35,24:59:99:497,0,849
chr2	71682692	rs2559082;94354	C	T	892.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.714;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=1.06;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.304;SOR=0.555;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2559082;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130987.1|protein_coding|55/55|c.6321+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130976.1|protein_coding|53/53|c.6162+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130977.1|protein_coding|54/54|c.6225+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130978.1|protein_coding|55/55|c.6267+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130979.1|protein_coding|55/55|c.6297+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130980.1|protein_coding|54/54|c.6255+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130981.1|protein_coding|55/55|c.6318+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_003494.3|protein_coding|54/54|c.6204+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130455.1|protein_coding|54/54|c.6207+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130982.1|protein_coding|55/55|c.6300+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130983.1|protein_coding|55/55|c.6270+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130984.1|protein_coding|54/54|c.6228+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130985.1|protein_coding|54/54|c.6258+15C>T||||||,T|intron_variant|MODIFIER|DYSF|DYSF|transcript|NM_001130986.1|protein_coding|53/53|c.6165+15C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=822;p3_1000G_AF=0.164137;p3_1000G_AFR_AF=0.1195;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=18966;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=71909822;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=571,3835;ESP6500_AA_AGE=252.1+/-258.6;ESP6500_AA_GTC=37,497,1669;ESP6500_CDS_SIZES=NM_003494.3:6243,NM_001130987.1:6360,NM_001130986.1:6204,NM_001130985.1:6297,NM_001130984.1:6267,NM_001130983.1:6309,NM_001130982.1:6339,NM_001130981.1:6357,NM_001130980.1:6294,NM_001130979.1:6336,NM_001130978.1:6306,NM_001130977.1:6264,NM_001130976.1:6201,NM_001130455.1:6246;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=1966,6632;ESP6500_EA_AGE=339.2+/-323.1;ESP6500_EA_GTC=224,1518,2557;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003494.3:intron,NM_001130987.1:intron,NM_001130986.1:intron,NM_001130985.1:intron,NM_001130984.1:intron,NM_001130983.1:intron,NM_001130982.1:intron,NM_001130981.1:intron,NM_001130980.1:intron,NM_001130979.1:intron,NM_001130978.1:intron,NM_001130977.1:intron,NM_001130976.1:intron,NM_001130455.1:intron;ESP6500_GL=DYSF;ESP6500_GRCh38_POSITION=2:71682692;ESP6500_GTC=261,2015,4226;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003494.3:c.6204+15C>T,NM_001130987.1:c.6321+15C>T,NM_001130986.1:c.6165+15C>T,NM_001130985.1:c.6258+15C>T,NM_001130984.1:c.6228+15C>T,NM_001130983.1:c.6270+15C>T,NM_001130982.1:c.6300+15C>T,NM_001130981.1:c.6318+15C>T,NM_001130980.1:c.6255+15C>T,NM_001130979.1:c.6297+15C>T,NM_001130978.1:c.6267+15C>T,NM_001130977.1:c.6225+15C>T,NM_001130976.1:c.6162+15C>T,NM_001130455.1:c.6207+15C>T;ESP6500_MAF=22.8658,12.9596,19.5094;ESP6500_TAC=2537,10467;CLINVAR_AF_ESP=0.1951;CLINVAR_AF_EXAC=0.23066;CLINVAR_AF_TGP=0.1641;CLINVAR_ALLELEID=100254;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230453|MedGen:CN239352;CLINVAR_CLNDN=not_specified|Miyoshi_myopathy|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.71682692C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25259;CLINVAR_GENEINFO=DYSF:8291;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2559082	GT:AD:DP:GQ:PL	0/1:32,36:68:99:921,0,836
chr2	72132183	rs2241059	A	G	546.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.5;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.919;SOR=1.162;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241059;dbSNPBuildID=98;ANN=G|3_prime_UTR_variant|MODIFIER|CYP26B1|CYP26B1|transcript|NM_019885.3|protein_coding|6/6|c.*44T>C|||||44|,G|3_prime_UTR_variant|MODIFIER|CYP26B1|CYP26B1|transcript|NM_001277742.1|protein_coding|5/5|c.*44T>C|||||44|;p3_1000G_AA=G|||;p3_1000G_AC=952;p3_1000G_AF=0.190096;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=18029;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=72359312;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1286,3056;ESP6500_AA_GTC=199,888,1084;ESP6500_CDS_SIZES=NM_019885.2:1539;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=12;ESP6500_EA_AC=1224,7298;ESP6500_EA_GTC=91,1042,3128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019885.2:utr-3;ESP6500_GL=CYP26B1;ESP6500_GRCh38_POSITION=2:72132183;ESP6500_GTC=290,1930,4212;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019885.2:c.*44T>C;ESP6500_MAF=14.3628,29.6177,19.5118;ESP6500_TAC=2510,10354	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,21:43:99:1|0:72132175_C_A:575,0,609
chr2	72465143	rs397829667;rs5832083	A	AAG	1266.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.09;SOR=2.91;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5832083;dbSNPBuildID=134,138;ANN=AAG|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321729.1|protein_coding|18/22|c.1980+15_1980+16dupCT||||||,AAG|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321730.1|protein_coding|17/21|c.1845+15_1845+16dupCT||||||,AAG|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321731.1|protein_coding|18/22|c.1980+15_1980+16dupCT||||||,AAG|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321733.1|protein_coding|17/20|c.1845+15_1845+16dupCT||||||,AAG|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321734.1|protein_coding|17/21|c.1641+15_1641+16dupCT||||||,AAG|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_015189.2|protein_coding|18/21|c.1980+15_1980+16dupCT||||||,AAG|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NR_135773.1|pseudogene|18/21|n.2112+15_2112+16dupCT||||||,AAG|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NR_135774.1|pseudogene|17/19|n.1932+15471_1932+15472dupCT||||||;p3_1000G_AC=4996;p3_1000G_AF=0.997604;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16025;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=72692272;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=INDEL;ESP6500_AA_AC=3630,4;ESP6500_AA_GTC=1813,4,0;ESP6500_CDS_SIZES=NM_015189.1:2436;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=69;ESP6500_EA_AC=7823,41;ESP6500_EA_GTC=3891,41,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015189.1:intron;ESP6500_GL=EXOC6B;ESP6500_GRCh38_POSITION=2:72465143;ESP6500_GTC=5704,45,0;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015189.1:c.1980+16_1980+17insCT;ESP6500_MAF=0.5214,0.1101,0.3914;ESP6500_TAC=11453,45	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1304,87,0
chr2	72514954	rs397984991;rs57089571;rs879038186	GAC	G	464.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=1.911;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57089571,rs72034379;dbSNPBuildID=135,147,138;ANN=G|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321729.1|protein_coding|9/22|c.999+87_999+88delGT||||||,G|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321730.1|protein_coding|9/21|c.999+87_999+88delGT||||||,G|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321731.1|protein_coding|9/22|c.999+87_999+88delGT||||||,G|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321733.1|protein_coding|9/20|c.999+87_999+88delGT||||||,G|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_001321734.1|protein_coding|8/21|c.660+87_660+88delGT||||||,G|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NM_015189.2|protein_coding|9/21|c.999+87_999+88delGT||||||,G|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NR_135773.1|pseudogene|9/21|n.1131+87_1131+88delGT||||||,G|intron_variant|MODIFIER|EXOC6B|EXOC6B|transcript|NR_135774.1|pseudogene|9/19|n.1131+87_1131+88delGT||||||	GT:AD:DP:GQ:PL	1/1:0,15:15:45:502,45,0
chr2	72968708	rs10565763;rs149139822;rs55801206;rs72142987	TTTCC	T	772.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55801206,rs10565763,rs149139822,rs72142987;dbSNPBuildID=132,134,137,129;ANN=T|intron_variant|MODIFIER|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding|11/13|c.742-179_742-176delGGAA||||||;p3_1000G_AC=3293;p3_1000G_AF=0.657548;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=19385;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.5875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73195837;p3_1000G_GRCH37_REF=TTTCC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:810,54,0
chr2	72988383	rs57666506	A	G	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.634;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57666506;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding|9/13|c.535-35T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=456;p3_1000G_AF=0.0910543;p3_1000G_AFR_AF=0.0582;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=20532;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73215512;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=246,4160;ESP6500_AA_AGE=134.1+/-170.4;ESP6500_AA_GTC=5,236,1962;ESP6500_CDS_SIZES=NM_144579.2:1023;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=45;ESP6500_EA_AC=551,8047;ESP6500_EA_AGE=143.6+/-199.6;ESP6500_EA_GTC=18,515,3766;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144579.2:intron;ESP6500_GL=SFXN5;ESP6500_GRCh38_POSITION=2:72988383;ESP6500_GTC=23,751,5728;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144579.2:c.535-35T>C;ESP6500_MAF=6.4085,5.5833,6.1289;ESP6500_TAC=797,12207	GT:AD:DP:GQ:PL	0/1:14,11:25:99:321,0,342
chr2	72988433	rs1370383	T	C	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.23;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.178;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1370383;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding|9/13|c.535-85A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2052;p3_1000G_AF=0.409744;p3_1000G_AFR_AF=0.6551;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=17567;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.2207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73215562;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:291,0,265
chr2	72998961	rs12233055	G	A	555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.389;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.77;SOR=0.796;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12233055;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding|9/14|c.522C>T|p.Ala174Ala|653/4140|522/1023|174/340||;p3_1000G_AA=g|||;p3_1000G_AC=1689;p3_1000G_AF=0.33726;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=20111;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.2197;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73226090;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1841,2565;ESP6500_AA_AGE=532.6+/-373.5;ESP6500_AA_GTC=402,1037,764;ESP6500_CDS_SIZES=NM_144579.2:1023;ESP6500_CG=-12.1;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=105;ESP6500_EA_AC=1897,6703;ESP6500_EA_AGE=334.0+/-320.8;ESP6500_EA_GTC=200,1497,2603;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144579.2:coding-synonymous;ESP6500_GL=SFXN5;ESP6500_GRCh38_POSITION=2:72998961;ESP6500_GTC=602,2534,3367;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144579.2:c.522C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144579.2:p.(A174);ESP6500_MAF=22.0581,41.7839,28.7406;ESP6500_TAC=3738,9268	GT:AD:DP:GQ:PL	0/1:26,23:49:99:584,0,714
chr2	72999130	rs732180	A	G	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.03;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=5.704;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.39;ReadPosRankSum=1.44;SOR=0.092;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs732180;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding|8/13|c.469-116T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2110;p3_1000G_AF=0.421326;p3_1000G_AFR_AF=0.6997;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=19911;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.2217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73226259;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,17:25:99:488,0,237
chr2	72999153	rs732179	T	C	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.681;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.46;ReadPosRankSum=-0.809;SOR=0.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs732179;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding|8/13|c.469-139A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2080;p3_1000G_AF=0.415335;p3_1000G_AFR_AF=0.6785;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=19443;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.2217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73226282;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,15:19:99:474,0,102
chr2	73000614	rs73943035	C	T	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.923;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=-0.184;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73943035;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding|7/13|c.412-127G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=416;p3_1000G_AF=0.0830671;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=20087;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.0636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73227743;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:308,0,249
chr2	73058623	rs10180720	T	A	432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.532;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.586;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10180720;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding|1/13|c.103-27A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1961;p3_1000G_AF=0.391573;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=19636;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73285752;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2241,2165;ESP6500_AA_AGE=593.9+/-388.1;ESP6500_AA_GTC=576,1089,538;ESP6500_CDS_SIZES=NM_144579.2:1023;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=84;ESP6500_EA_AC=1862,6738;ESP6500_EA_AGE=331.2+/-319.6;ESP6500_EA_GTC=192,1478,2630;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144579.2:intron;ESP6500_GL=SFXN5;ESP6500_GRCh38_POSITION=2:73058623;ESP6500_GTC=768,2567,3168;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_144579.2:c.103-27A>T;ESP6500_MAF=21.6512,49.1375,31.547;ESP6500_TAC=4103,8903	GT:AD:DP:GQ:PL	0/1:16,18:34:99:461,0,406
chr2	73075763	rs3832033;rs59223555	G	GGCCT	234.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.512;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0.246;SOR=0.283;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3832033,rs59223555;dbSNPBuildID=107,129;ANN=GGCCT|upstream_gene_variant|MODIFIER|SFXN5|SFXN5|transcript|NM_144579.2|protein_coding||c.-4062_-4059dupAGGC|||||3928|,GGCCT|intron_variant|MODIFIER|RAB11FIP5|RAB11FIP5|transcript|NM_015470.2|protein_coding|4/4|c.1759-43_1759-40dupAGGC||||||;p3_1000G_AC=1927;p3_1000G_AF=0.384784;p3_1000G_AFR_AF=0.5303;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=14290;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73302891;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2812;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,7:14:99:272,0,354
chr2	73112302	rs4143146	T	G	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.64;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.653;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=0.881;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4143146;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|RAB11FIP5|RAB11FIP5|transcript|NM_015470.2|protein_coding|1/4|c.431+45A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4414;p3_1000G_AF=0.88139;p3_1000G_AFR_AF=0.9107;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=12610;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.8678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73339430;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2639,227;ESP6500_AA_GTC=1214,211,8;ESP6500_CDS_SIZES=NM_015470.2:1962;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=5;ESP6500_EA_AC=5342,792;ESP6500_EA_GTC=2324,694,49;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015470.2:intron;ESP6500_GL=RAB11FIP5;ESP6500_GRCh38_POSITION=2:73112302;ESP6500_GTC=3538,905,57;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015470.2:c.431+45A>C;ESP6500_MAF=12.9116,7.9204,11.3222;ESP6500_TAC=7981,1019	GT:AD:DP:GQ:PL	0/1:16,10:26:99:244,0,407
chr2	73112580	rs1864488	G	A	969.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.052;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=1.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.21;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1864488;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|RAB11FIP5|RAB11FIP5|transcript|NM_015470.2|protein_coding|1/5|c.198C>T|p.Cys66Cys|439/4342|198/1962|66/653||;p3_1000G_AA=G|||;p3_1000G_AC=2607;p3_1000G_AF=0.520567;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=10002;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73339708;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1435,2957;ESP6500_AA_GTC=255,925,1016;ESP6500_CDS_SIZES=NM_015470.2:1962;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=18;ESP6500_EA_AC=5954,2626;ESP6500_EA_GTC=2072,1810,408;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015470.2:coding-synonymous;ESP6500_GL=RAB11FIP5;ESP6500_GRCh38_POSITION=2:73112580;ESP6500_GTC=2327,2735,1424;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015470.2:c.198C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015470.2:p.(C66);ESP6500_MAF=30.6061,32.673,43.0389;ESP6500_TAC=7389,5583	GT:AD:DP:GQ:PL	0/1:39,40:79:99:998,0,923
chr2	73244525	rs1018342	T	G	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.437;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-0.365;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1018342;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|CCT7|CCT7|transcript|NM_006429.3|protein_coding|5/11|c.447-19T>G||||||,G|intron_variant|MODIFIER|CCT7|CCT7|transcript|NM_001009570.2|protein_coding|1/6|c.7-3237T>G||||||,G|intron_variant|MODIFIER|CCT7|CCT7|transcript|NM_001166284.1|protein_coding|3/9|c.186-19T>G||||||,G|intron_variant|MODIFIER|CCT7|CCT7|transcript|NM_001166285.1|protein_coding|6/12|c.315-19T>G||||||,G|intron_variant|MODIFIER|CCT7|CCT7|transcript|NR_029402.1|pseudogene|4/10|n.537-19T>G||||||,G|intron_variant|MODIFIER|CCT7|CCT7|transcript|NR_029403.1|pseudogene|4/10|n.441-19T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1274;p3_1000G_AF=0.254393;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=20962;p3_1000G_EAS_AF=0.3671;p3_1000G_EUR_AF=0.3062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73471653;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=606,3394;ESP6500_AA_GTC=53,500,1447;ESP6500_CDS_SIZES=NM_006429.3:1632,NM_001166285.1:1500,NM_001166284.1:1371,NM_001009570.2:1020;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=37;ESP6500_EA_AC=2553,5817;ESP6500_EA_GTC=392,1769,2024;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006429.3:intron,NM_001166285.1:intron,NM_001166284.1:intron,NM_001009570.2:intron;ESP6500_GL=CCT7;ESP6500_GRCh38_POSITION=2:73244525;ESP6500_GTC=445,2269,3471;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_006429.3:c.447-19T>G,NM_001166285.1:c.315-19T>G,NM_001166284.1:c.186-19T>G,NM_001009570.2:c.7-3237T>G;ESP6500_MAF=30.5018,15.15,25.5376;ESP6500_TAC=3159,9211	GT:AD:DP:GQ:PL	0/1:12,15:27:99:452,0,318
chr2	73250223	rs909065	T	C	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.81;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.13;ReadPosRankSum=0.356;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs909065;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|FBXO41|FBXO41|transcript|NM_001080410.2|protein_coding||c.*8759A>G|||||4459|,C|intron_variant|MODIFIER|CCT7|CCT7|transcript|NM_006429.3|protein_coding|9/11|c.1071-83T>C||||||,C|intron_variant|MODIFIER|CCT7|CCT7|transcript|NM_001009570.2|protein_coding|4/6|c.459-83T>C||||||,C|intron_variant|MODIFIER|CCT7|CCT7|transcript|NM_001166284.1|protein_coding|7/9|c.810-83T>C||||||,C|intron_variant|MODIFIER|CCT7|CCT7|transcript|NM_001166285.1|protein_coding|10/12|c.939-83T>C||||||,C|intron_variant|MODIFIER|CCT7|CCT7|transcript|NR_029402.1|pseudogene|8/10|n.1161-83T>C||||||,C|intron_variant|MODIFIER|CCT7|CCT7|transcript|NR_029403.1|pseudogene|8/10|n.1065-83T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1280;p3_1000G_AF=0.255591;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=19509;p3_1000G_EAS_AF=0.3681;p3_1000G_EUR_AF=0.3101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73477351;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,19:28:99:620,0,159
chr2	73251333	rs7851	A	T	713.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.13;SOR=0.801;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7851;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|CCT7|CCT7|transcript|NM_006429.3|protein_coding|11/12|c.1311A>T|p.Ala437Ala|1454/1936|1311/1632|437/543||,T|synonymous_variant|LOW|CCT7|CCT7|transcript|NM_001009570.2|protein_coding|6/7|c.699A>T|p.Ala233Ala|842/1324|699/1020|233/339||,T|synonymous_variant|LOW|CCT7|CCT7|transcript|NM_001166284.1|protein_coding|9/10|c.1050A>T|p.Ala350Ala|1193/1675|1050/1371|350/456||,T|synonymous_variant|LOW|CCT7|CCT7|transcript|NM_001166285.1|protein_coding|12/13|c.1179A>T|p.Ala393Ala|1550/2032|1179/1500|393/499||,T|downstream_gene_variant|MODIFIER|FBXO41|FBXO41|transcript|NM_001080410.2|protein_coding||c.*7649T>A|||||3349|,T|non_coding_transcript_exon_variant|MODIFIER|CCT7|CCT7|transcript|NR_029402.1|pseudogene|10/11|n.1401A>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|CCT7|CCT7|transcript|NR_029403.1|pseudogene|10/11|n.1305A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1273;p3_1000G_AF=0.254193;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=18007;p3_1000G_EAS_AF=0.3611;p3_1000G_EUR_AF=0.3101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73478461;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=585,3279;ESP6500_AA_GTC=56,473,1403;ESP6500_CDS_SIZES=NM_006429.3:1632,NM_001166285.1:1500,NM_001166284.1:1371,NM_001009570.2:1020;ESP6500_CG=-9.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=115;ESP6500_EA_AC=2538,5738;ESP6500_EA_GTC=392,1754,1992;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006429.3:coding-synonymous,NM_001166285.1:coding-synonymous,NM_001166284.1:coding-synonymous,NM_001009570.2:coding-synonymous;ESP6500_GL=CCT7;ESP6500_GRCh38_POSITION=2:73251333;ESP6500_GTC=448,2227,3395;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_006429.3:c.1311A>T,NM_001166285.1:c.1179A>T,NM_001166284.1:c.1050A>T,NM_001009570.2:c.699A>T;ESP6500_HGVS_PROTEIN_VAR=NM_006429.3:p.(A437),NM_001166285.1:p.(A393),NM_001166284.1:p.(A350),NM_001009570.2:p.(A233);ESP6500_MAF=30.667,15.1398,25.7249;ESP6500_TAC=3123,9017	GT:AD:DP:GQ:PL	0/1:34,29:63:99:742,0,817
chr2	73263284	rs34363861	A	G	12.99	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.259;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.667;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34363861;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|FBXO41|FBXO41|transcript|NM_001080410.2|protein_coding|8/12|c.2100T>C|p.His700His|2100/6928|2100/2628|700/875||;p3_1000G_AA=G|||;p3_1000G_AC=2629;p3_1000G_AF=0.52496;p3_1000G_AFR_AF=0.8502;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=16504;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.4821;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73490412;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3063,845;ESP6500_AA_GTC=1234,595,125;ESP6500_CDS_SIZES=NM_001080410.2:2628;ESP6500_CG=-10.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=22;ESP6500_EA_AC=3941,4291;ESP6500_EA_GTC=983,1975,1158;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080410.2:coding-synonymous;ESP6500_GL=FBXO41;ESP6500_GRCh38_POSITION=2:73263284;ESP6500_GTC=2217,2570,1283;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080410.2:c.2100T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001080410.2:p.(H700);ESP6500_MAF=47.8741,21.6223,42.3064;ESP6500_TAC=7004,5136	GT:AD:DP:GQ:PL	0/1:12,3:15:41:41,0,298
chr2	73264555	rs4852916	G	A	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.428;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=0.476;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4852916;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|FBXO41|FBXO41|transcript|NM_001080410.2|protein_coding|4/11|c.1565-36C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1320;p3_1000G_AF=0.263578;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=16186;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.3151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73491683;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=257,3759;ESP6500_AA_GTC=15,227,1766;ESP6500_CDS_SIZES=NM_001080410.2:2628;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=19;ESP6500_EA_AC=2550,5802;ESP6500_EA_GTC=395,1760,2021;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080410.2:intron;ESP6500_GL=FBXO41;ESP6500_GRCh38_POSITION=2:73264555;ESP6500_GTC=410,1987,3787;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080410.2:c.1565-36C>T;ESP6500_MAF=30.5316,6.3994,22.6957;ESP6500_TAC=2807,9561	GT:AD:DP:GQ:PL	0/1:11,15:26:99:454,0,305
chr2	73385903	rs193922695;rs764804760;218713	T	TGGA	403.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.157;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.64;ReadPosRankSum=1.3;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs193922695,rs55889738;dbSNPBuildID=144,136;ANN=TGGA|disruptive_inframe_insertion|MODERATE|ALMS1|ALMS1|transcript|NM_015120.4|protein_coding|1/23|c.72_74dupGGA|p.Glu25dup|186/12925|75/12507|25/4168||INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=215261;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED_CT:63702009|MedGen:CN169374;CLINVAR_CLNDN=Cardiomyopathy|Alstrom_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.73385940_73385942dupGGA;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(4),Likely_benign(1),Uncertain_significance(6);CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:497990|Illumina_Clinical_Services_Laboratory,Illumina:652996|Illumina_Clinical_Services_Laboratory,Illumina:686207|Illumina_Clinical_Services_Laboratory,Illumina:696234|Illumina_Clinical_Services_Laboratory,Illumina:834309;CLINVAR_GENEINFO=ALMS1:7840;CLINVAR_ORIGIN=1;CLINVAR_RS=55889738|193922695	GT:AD:DP:GQ:PL	1/0:1,6:7:99:441,161,173
chr2	73385903	rs193922695;rs764804760;193379	T	TGGAGGA	403.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.157;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.64;ReadPosRankSum=1.3;SOR=1.329;INS;HET;VARTYPE=INS;dbSNPBuildID=144,136;ANN=TGGAGGA|disruptive_inframe_insertion|MODERATE|ALMS1|ALMS1|transcript|NM_015120.4|protein_coding|1/23|c.69_74dupGGAGGA|p.Glu24_Glu25dup|186/12925|75/12507|25/4168||INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=190543;CLINVAR_CLNDISDB=MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED_CT:63702009|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Alstrom_syndrome|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.73385937_73385942dupGGAGGA;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(3),Likely_benign(2),Uncertain_significance(1);CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_GENEINFO=ALMS1:7840;CLINVAR_ORIGIN=5;CLINVAR_RS=193922695|55889738	GT:AD:DP:GQ:PL	0/1:1,5:6:99:441,196,233
chr2	73422994	rs1881246;383767	T	A	2041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1881246;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|ALMS1|ALMS1|transcript|NM_015120.4|protein_coding|4/22|c.764+20T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2668;p3_1000G_AF=0.532748;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=18119;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.6501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73650122;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=824,2888;ESP6500_AA_GTC=93,638,1125;ESP6500_CDS_SIZES=NM_015120.4:12504;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=135;ESP6500_EA_AC=5155,3025;ESP6500_EA_GTC=1606,1943,541;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015120.4:intron;ESP6500_GL=ALMS1;ESP6500_GRCh38_POSITION=2:73422994;ESP6500_GTC=1699,2581,1666;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_015120.4:c.764+20T>A;ESP6500_MAF=36.9804,22.1983,49.7225;ESP6500_TAC=5979,5913;CLINVAR_ALLELEID=366927;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.73422994T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ALMS1:7840;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1881246	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2070,204,0
chr2	73448542	rs2037814;504918	T	G	1425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.77;SOR=0.843;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2037814;dbSNPBuildID=94;ANN=G|missense_variant|MODERATE|ALMS1|ALMS1|transcript|NM_015120.4|protein_coding|8/23|c.2015T>G|p.Val672Gly|2126/12925|2015/12507|672/4168||;p3_1000G_AA=G|||;p3_1000G_AC=4368;p3_1000G_AF=0.872204;p3_1000G_AFR_AF=0.9145;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=18098;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.8757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73675669;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3459,375;ESP6500_AA_GTC=1558,343,16;ESP6500_CDS_SIZES=NM_015120.4:12504;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=86;ESP6500_EA_AC=7180,1068;ESP6500_EA_GTC=3127,926,71;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015120.4:missense;ESP6500_GL=ALMS1;ESP6500_GRCh38_POSITION=2:73448542;ESP6500_GS=109;ESP6500_GTC=4685,1269,87;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015120.4:c.2012T>G;ESP6500_HGVS_PROTEIN_VAR=NM_015120.4:p.(V671G);ESP6500_MAF=12.9486,9.7809,11.9434;ESP6500_PH=benign:0.0;ESP6500_TAC=10639,1443;CLINVAR_ALLELEID=496235;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.73448542T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ALMS1:7840;CLINVAR_MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2037814	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1454,123,0
chr2	73448717	rs7598901;383768	C	T	1783.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=0.831;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7598901;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|ALMS1|ALMS1|transcript|NM_015120.4|protein_coding|8/23|c.2190C>T|p.Phe730Phe|2301/12925|2190/12507|730/4168||;p3_1000G_AA=C|||;p3_1000G_AC=2636;p3_1000G_AF=0.526358;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=19280;p3_1000G_EAS_AF=0.7798;p3_1000G_EUR_AF=0.6491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73675844;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=779,2947;ESP6500_AA_GTC=93,593,1177;ESP6500_CDS_SIZES=NM_015120.4:12504;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=127;ESP6500_EA_AC=5129,3085;ESP6500_EA_GTC=1594,1941,572;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015120.4:coding-synonymous;ESP6500_GL=ALMS1;ESP6500_GRCh38_POSITION=2:73448717;ESP6500_GTC=1687,2534,1749;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015120.4:c.2187C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015120.4:p.(F729);ESP6500_MAF=37.5578,20.9071,49.4807;ESP6500_TAC=5908,6032;CLINVAR_ALLELEID=366940;CLINVAR_CLNDISDB=MedGen:C0268425,OMIM:203800,Orphanet:ORPHA64,SNOMED_CT:63702009|MedGen:CN169374;CLINVAR_CLNDN=Alstrom_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.73448717C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ALMS1:7840;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7598901	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1812,180,0
chr2	73601183	rs1320374;383770	T	C	871.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1320374;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|ALMS1|ALMS1|transcript|NM_015120.4|protein_coding|18/22|c.11873-12T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=21846;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73828310;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1165,3171;ESP6500_AA_GTC=195,775,1198;ESP6500_CDS_SIZES=NM_015120.4:12504;ESP6500_CG=4.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=87;ESP6500_EA_AC=5493,3099;ESP6500_EA_GTC=1757,1979,560;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015120.4:intron;ESP6500_GL=ALMS1;ESP6500_GRCh38_POSITION=2:73601183;ESP6500_GTC=1952,2754,1758;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015120.4:c.11870-12T>C;ESP6500_MAF=36.0684,26.8681,48.4994;ESP6500_TAC=6658,6270;CLINVAR_ALLELEID=367006;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.73601183T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ALMS1:7840;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1320374	GT:AD:DP:GQ:PL	1/1:0,24:24:72:900,72,0
chr2	73601411	rs1052161;383764	G	A	699.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052161;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|ALMS1|ALMS1|transcript|NM_015120.4|protein_coding|19/23|c.12089G>A|p.Arg4030Lys|12200/12925|12089/12507|4030/4168||;p3_1000G_AA=A|||;p3_1000G_AC=2916;p3_1000G_AF=0.582268;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=18466;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.6561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73828538;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1498,2904;ESP6500_AA_AGE=618.6+/-393.2;ESP6500_AA_GTC=281,936,984;ESP6500_CDS_SIZES=NM_015120.4:12504;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=32;ESP6500_EA_AC=5479,3121;ESP6500_EA_AGE=457.4+/-364.3;ESP6500_EA_GTC=1739,2001,560;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015120.4:missense;ESP6500_GL=ALMS1;ESP6500_GRCh38_POSITION=2:73601411;ESP6500_GS=26;ESP6500_GTC=2020,2937,1544;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015120.4:c.12086G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015120.4:p.(R4029K);ESP6500_MAF=36.2907,34.03,46.339;ESP6500_PH=benign:0.001;ESP6500_TAC=6977,6025;CLINVAR_ALLELEID=367925;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.73601411G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ALMS1:7840;CLINVAR_MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1052161	GT:AD:DP:GQ:PL	1/1:0,20:20:60:728,60,0
chr2	73641545	rs78164441	A	T	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.101;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-1.301;SOR=1.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78164441;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|NAT8|NAT8|transcript|NM_003960.3|protein_coding|2/2|c.84T>A|p.His28Gln|251/1073|84/684|28/227||,T|upstream_gene_variant|MODIFIER|ALMS1P1|ALMS1P1|transcript|NR_003683.2|pseudogene||n.-3374A>T|||||3374|;p3_1000G_AA=.|||;p3_1000G_AC=78;p3_1000G_AF=0.0155751;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19008;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73868672;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:39,28:67:99:673,0,991
chr2	73670991	rs7570683	C	T	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.339;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.95;SOR=0.327;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7570683;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ALMS1P1|ALMS1P1|transcript|NR_003683.2|pseudogene|1/6|n.237-89C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2735;p3_1000G_AF=0.546126;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=21437;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.669;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73898118;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,8:25:99:174,0,592
chr2	73671232	rs4341964	G	A	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.372;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.72;ReadPosRankSum=-0.329;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4341964;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ALMS1P1|ALMS1P1|transcript|NR_003683.2|pseudogene|2/6|n.307+82G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=2765;p3_1000G_AF=0.552117;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=20850;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73898359;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,6:22:99:132,0,499
chr2	73700804	rs4852974	A	G	2189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=0.678;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=-0.778;QD=17.66;ReadPosRankSum=0.031;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4852974;dbSNPBuildID=111;ANN=G|stop_lost|HIGH|NAT8B|NAT8B|transcript|NM_016347.2|protein_coding|1/1|c.502T>C|p.Ter168Glnext*?|537/832|502/684|168/227||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|non_coding_transcript_exon_variant|MODIFIER|NAT8B|NAT8B|transcript|NR_132338.1|pseudogene|1/1|n.537T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3839;p3_1000G_AF=0.766573;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=19856;p3_1000G_EAS_AF=0.7103;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73927931;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3648,758;ESP6500_AA_AGE=308.6+/-290.6;ESP6500_AA_GTC=1513,622,68;ESP6500_CDS_SIZES=XM_003846327.1:378,NM_016347.2:684;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=67;ESP6500_EA_AC=6097,2503;ESP6500_EA_AGE=410.4+/-350.2;ESP6500_EA_GTC=2156,1785,359;ESP6500_EXOME_CHIP=yes;ESP6500_FG=XM_003846327.1:coding-synonymous,NM_016347.2:stop-lost;ESP6500_GL=NAT8B,LOC100996461;ESP6500_GRCh38_POSITION=2:73700804;ESP6500_GTC=3669,2407,427;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=XM_003846327.1:c.141A>G,NM_016347.2:c.502T>C;ESP6500_HGVS_PROTEIN_VAR=XM_003846327.1:p.(L47),NM_016347.2:p.(*168Qext?);ESP6500_MAF=29.1047,17.2038,25.073;ESP6500_TAC=9745,3261	GT:AD:DP:GQ:PL	0/1:48,76:124:99:2218,0,1206
chr2	73700971	rs2001490	C	G	1830.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.577;ClippingRankSum=0;DP=132;ExcessHet=3.0103;FS=0.645;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.165;SOR=0.78;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2001490;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|NAT8B|NAT8B|transcript|NM_016347.2|protein_coding|1/1|c.335G>C|p.Gly112Ala|370/832|335/684|112/227||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,G|non_coding_transcript_exon_variant|MODIFIER|NAT8B|NAT8B|transcript|NR_132338.1|pseudogene|1/1|n.370G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2891;p3_1000G_AF=0.577276;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=21073;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73928098;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1805,2601;ESP6500_AA_AGE=637.0+/-396.7;ESP6500_AA_GTC=376,1053,774;ESP6500_CDS_SIZES=XM_003846327.1:378,NM_016347.2:684;ESP6500_CG=2.4;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=94;ESP6500_EA_AC=5493,3107;ESP6500_EA_AGE=474.2+/-368.8;ESP6500_EA_GTC=1753,1987,560;ESP6500_EXOME_CHIP=yes;ESP6500_FG=XM_003846327.1:missense,NM_016347.2:missense;ESP6500_GL=NAT8B,LOC100996461;ESP6500_GRCh38_POSITION=2:73700971;ESP6500_GS=58,60;ESP6500_GTC=2129,3040,1334;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=XM_003846327.1:c.308C>G,NM_016347.2:c.335G>C;ESP6500_HGVS_PROTEIN_VAR=XM_003846327.1:p.(T103S),NM_016347.2:p.(G112A);ESP6500_MAF=36.1279,40.9669,43.8874;ESP6500_TAC=7298,5708	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1859,0,1861
chr2	73701239	rs2012574	G	C	947.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.863;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.031;SOR=0.509;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2012574;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|NAT8B|NAT8B|transcript|NM_016347.2|protein_coding|1/1|c.67C>G|p.Arg23Gly|102/832|67/684|23/227||WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS,C|non_coding_transcript_exon_variant|MODIFIER|NAT8B|NAT8B|transcript|NR_132338.1|pseudogene|1/1|n.102C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2730;p3_1000G_AF=0.545128;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=20487;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73928366;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1422,2962;ESP6500_AA_GTC=256,910,1026;ESP6500_CDS_SIZES=XM_003846327.1:378,NM_016347.2:684;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=73;ESP6500_EA_AC=5475,3119;ESP6500_EA_GTC=1753,1969,575;ESP6500_EXOME_CHIP=yes;ESP6500_FG=XM_003846327.1:intron,NM_016347.2:missense;ESP6500_GL=NAT8B,LOC100996461;ESP6500_GRCh38_POSITION=2:73701239;ESP6500_GS=.,125;ESP6500_GTC=2009,2879,1601;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=XM_003846327.1:c.339+237G>C,NM_016347.2:c.67C>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_016347.2:p.(R23G);ESP6500_MAF=36.2928,32.4361,46.8562;ESP6500_TAC=6897,6081	GT:AD:DP:GQ:PL	0/1:23,38:61:99:976,0,621
chr2	73729997	rs7210	A	G	764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7210;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|TPRKB|TPRKB|transcript|NM_016058.2|protein_coding|5/5|c.474T>C|p.Ile158Ile|585/752|474/528|158/175||,G|sequence_feature|LOW|TPRKB|TPRKB|helix:combinatorial_evidence_used_in_manual_assertion|NM_016058.2|protein_coding|5/5|c.474T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2858;p3_1000G_AF=0.570687;p3_1000G_AFR_AF=0.292;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=16898;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.6899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73957124;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1686,2690;ESP6500_AA_GTC=339,1008,841;ESP6500_CDS_SIZES=NM_016058.2:528;ESP6500_CG=1.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=42;ESP6500_EA_AC=5643,2921;ESP6500_EA_GTC=1848,1947,487;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016058.2:coding-synonymous;ESP6500_GL=TPRKB;ESP6500_GRCh38_POSITION=2:73729997;ESP6500_GTC=2187,2955,1328;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016058.2:c.474T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016058.2:p.(I158);ESP6500_MAF=34.1079,38.5283,43.3617;ESP6500_TAC=7329,5611	GT:AD:DP:GQ:PL	1/1:0,26:26:78:793,78,0
chr2	73730100	rs13003035	T	A	633.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13003035;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|TPRKB|TPRKB|transcript|NM_016058.2|protein_coding|4/4|c.442-71A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2612;p3_1000G_AF=0.521565;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=15803;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.6889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73957227;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:662,57,0
chr2	73732808	rs12713795	T	A	233.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12713795;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|TPRKB|TPRKB|transcript|NM_016058.2|protein_coding|2/4|c.142-523A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=2855;p3_1000G_AF=0.570088;p3_1000G_AFR_AF=0.2897;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=19446;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73959935;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:73732808_T_A:262,18,0
chr2	73732833	rs12992607	G	T	206.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.47;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12992607;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|TPRKB|TPRKB|transcript|NM_016058.2|protein_coding|2/4|c.142-548C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2613;p3_1000G_AF=0.521765;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=18863;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.6889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73959960;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:73732808_T_A:235,18,0
chr2	73766309	rs34279043;rs397778228;rs553128210	CA	C	230.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.948;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.378;SOR=1.402;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34279043;dbSNPBuildID=134,142,138;ANN=C|intron_variant|MODIFIER|DUSP11|DUSP11|transcript|NM_003584.2|protein_coding|8/8|c.935+108delT||||||	GT:AD:DP:GQ:PL	0/1:3,14:17:28:268,0,28
chr2	73766947	rs2567599	G	A	987.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.67;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2567599;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DUSP11|DUSP11|transcript|NM_003584.2|protein_coding|6/8|c.683-44C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4766;p3_1000G_AF=0.951677;p3_1000G_AFR_AF=0.9054;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=17744;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=73994074;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4001,391;ESP6500_AA_GTC=1823,355,18;ESP6500_CDS_SIZES=NM_003584.2:1134;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=8101,497;ESP6500_EA_GTC=3814,473,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003584.2:intron;ESP6500_GL=DUSP11;ESP6500_GRCh38_POSITION=2:73766947;ESP6500_GTC=5637,828,30;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003584.2:c.683-44C>T;ESP6500_MAF=5.7804,8.9026,6.836;ESP6500_TAC=12102,888	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1016,84,0
chr2	73773574	rs2116367	C	T	46.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2116367;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|DUSP11|DUSP11|transcript|NM_003584.2|protein_coding|4/8|c.574+226G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3269;p3_1000G_AF=0.652756;p3_1000G_AFR_AF=0.6067;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=16633;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74000701;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:74,6,0
chr2	73780009	rs2272051	T	C	2246.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=0.886;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272051;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|DUSP11|DUSP11|transcript|NM_003584.2|protein_coding|1/9|c.107A>G|p.Asp36Gly|149/1639|107/1134|36/377||,C|upstream_gene_variant|MODIFIER|C2orf78|C2orf78|transcript|NM_001080474.1|protein_coding||c.-4301T>C|||||4180|;p3_1000G_AA=C|||;p3_1000G_AC=3053;p3_1000G_AF=0.609625;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=18120;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74007136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2126,2280;ESP6500_AA_AGE=596.6+/-388.7;ESP6500_AA_GTC=533,1060,610;ESP6500_CDS_SIZES=NM_003584.2:1134;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=5687,2913;ESP6500_EA_AGE=452.3+/-362.9;ESP6500_EA_GTC=1873,1941,486;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003584.2:missense;ESP6500_GL=DUSP11;ESP6500_GRCh38_POSITION=2:73780009;ESP6500_GS=94;ESP6500_GTC=2406,3001,1096;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003584.2:c.107A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003584.2:p.(D36G);ESP6500_MAF=33.8721,48.2524,39.9277;ESP6500_PH=benign:0.0;ESP6500_TAC=7813,5193	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2275,198,0
chr2	73780218	rs3813228	A	G	533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3813228;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|DUSP11|DUSP11|transcript|NM_003584.2|protein_coding||c.-103T>C|||||61|,G|upstream_gene_variant|MODIFIER|C2orf78|C2orf78|transcript|NM_001080474.1|protein_coding||c.-4092A>G|||||3971|,G|intergenic_region|MODIFIER|DUSP11-C2orf78|DUSP11-C2orf78|intergenic_region|DUSP11-C2orf78|||n.73780218A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3115;p3_1000G_AF=0.622005;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=16862;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74007345;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:562,42,0
chr2	73808753	rs11675635	A	G	164.98	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.157;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.56;MQRankSum=0.887;QD=20.62;ReadPosRankSum=1.15;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11675635;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|C2orf78|C2orf78|transcript|NM_001080474.1|protein_coding|1/2|c.98-4724A>G||||||	GT:AD:DP:GQ:PL	0/1:1,7:8:13:193,0,13
chr2	73901234	rs1653258	T	G	620.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.78;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.556;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.4;ReadPosRankSum=0.743;SOR=0.357;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1653258;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|1/8|c.-36-42T>G||||||,G|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|1/7|c.-36-42T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2339;p3_1000G_AF=0.467053;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=19484;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.6103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74128361;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,15:32:99:0|1:73901234_T_G:649,0,916
chr2	73901242	rs1632564	G	A	658.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.607;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.297;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=0.095;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1632564;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|1/8|c.-36-34G>A||||||,A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|1/7|c.-36-34G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2346;p3_1000G_AF=0.46845;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=19570;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.6093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74128369;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,19:37:99:0|1:73901234_T_G:687,0,971
chr2	73901264	rs1721241	G	C	707.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.605;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.605;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.548;SOR=0.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1721241;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|1/8|c.-36-12G>C||||||,C|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|1/7|c.-36-12G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3508;p3_1000G_AF=0.700479;p3_1000G_AFR_AF=0.6672;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=19663;p3_1000G_EAS_AF=0.5952;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74128391;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6452;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3092,1314;ESP6500_AA_AGE=420.8+/-339.2;ESP6500_AA_GTC=1098,896,209;ESP6500_CDS_SIZES=NM_001615.3:1131,NM_001199893.1:1002;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=32;ESP6500_EA_AC=6844,1756;ESP6500_EA_AGE=298.7+/-304.1;ESP6500_EA_GTC=2751,1342,207;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001615.3:intron,NM_001199893.1:intron;ESP6500_GL=ACTG2;ESP6500_GRCh38_POSITION=2:73901264;ESP6500_GTC=3849,2238,416;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001615.3:c.-48G>C,NM_001199893.1:c.-48G>C;ESP6500_MAF=20.4186,29.823,23.6045;ESP6500_TAC=9936,3070	GT:AD:DP:GQ:PL	0/1:21,28:49:99:736,0,506
chr2	73901306	rs1050146	C	T	966.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.539;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=5.008;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.265;SOR=0.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1050146;dbSNPBuildID=86;ANN=T|5_prime_UTR_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|2/9|c.-6C>T|||||6|,T|5_prime_UTR_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/8|c.-6C>T|||||6|;p3_1000G_AA=C|||;p3_1000G_AC=3545;p3_1000G_AF=0.707867;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=20488;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74128433;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3084,1322;ESP6500_AA_AGE=694.1+/-405.8;ESP6500_AA_GTC=1088,908,207;ESP6500_CDS_SIZES=NM_001615.3:1131,NM_001199893.1:1002;ESP6500_CG=2.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=49;ESP6500_EA_AC=6837,1763;ESP6500_EA_AGE=733.7+/-406.9;ESP6500_EA_GTC=2736,1365,199;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001615.3:utr-5,NM_001199893.1:utr-5;ESP6500_GL=ACTG2;ESP6500_GRCh38_POSITION=2:73901306;ESP6500_GTC=3824,2273,406;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001615.3:c.-6C>T,NM_001199893.1:c.-6C>T;ESP6500_MAF=20.5,30.0045,23.7198;ESP6500_TAC=9921,3085	GT:AD:DP:GQ:PL	0/1:29,38:67:99:995,0,805
chr2	73902347	rs1726025	T	C	988.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.56;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=4.855;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.66;ReadPosRankSum=0.825;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1726025;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|2/8|c.127-13T>C||||||,C|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/7|c.126+910T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2819;p3_1000G_AF=0.562899;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=21326;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.6133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74129474;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2256,2150;ESP6500_AA_AGE=576.4+/-384.2;ESP6500_AA_GTC=587,1082,534;ESP6500_CDS_SIZES=NM_001615.3:1131,NM_001199893.1:1002;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=70;ESP6500_EA_AC=4986,3614;ESP6500_EA_AGE=517.3+/-379.0;ESP6500_EA_GTC=1481,2024,795;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001615.3:intron,NM_001199893.1:intron;ESP6500_GL=ACTG2;ESP6500_GRCh38_POSITION=2:73902347;ESP6500_GTC=2068,3106,1329;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001615.3:c.127-13T>C,NM_001199893.1:c.126+910T>C;ESP6500_MAF=42.0233,48.7971,44.318;ESP6500_TAC=7242,5764	GT:AD:DP:GQ:PL	0/1:22,31:53:99:1017,0,591
chr2	73902537	rs1653256	A	G	1438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=152;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.708;SOR=0.687;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1653256;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|3/8|c.255+49A>G||||||,G|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/7|c.126+1100A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2817;p3_1000G_AF=0.5625;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=21524;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.6123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74129664;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2259,2147;ESP6500_AA_AGE=576.3+/-384.2;ESP6500_AA_GTC=588,1083,532;ESP6500_CDS_SIZES=NM_001615.3:1131,NM_001199893.1:1002;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=57;ESP6500_EA_AC=4985,3615;ESP6500_EA_AGE=514.8+/-378.5;ESP6500_EA_GTC=1478,2029,793;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001615.3:intron,NM_001199893.1:intron;ESP6500_GL=ACTG2;ESP6500_GRCh38_POSITION=2:73902537;ESP6500_GTC=2066,3112,1325;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001615.3:c.255+49A>G,NM_001199893.1:c.126+1100A>G;ESP6500_MAF=42.0349,48.729,44.3026;ESP6500_TAC=7244,5762	GT:AD:DP:GQ:PL	0/1:92,59:151:99:1467,0,2321
chr2	73902585	rs1721243	C	G	2037.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.515;ClippingRankSum=0;DP=163;ExcessHet=3.0103;FS=3.668;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.448;SOR=0.443;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1721243;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|3/8|c.255+97C>G||||||,G|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/7|c.126+1148C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2722;p3_1000G_AF=0.54353;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=21379;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.6143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74129712;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:86,77:163:99:2066,0,2552
chr2	73902768	rs1721244	G	A	1137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.565;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0.797;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.962;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1721244;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|3/8|c.255+280G>A||||||,A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/7|c.126+1331G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2714;p3_1000G_AF=0.541933;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=20496;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.6133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74129895;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1166,0,1429
chr2	73902897	rs1653255	C	A	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.471;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.791;SOR=0.35;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1653255;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|3/8|c.255+409C>A||||||,A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/7|c.126+1460C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2646;p3_1000G_AF=0.528355;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=19109;p3_1000G_EAS_AF=0.5179;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74130024;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,10:26:99:295,0,618
chr2	73908253	rs756127	G	A	553.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.045;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.336;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs756127;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|3/8|c.256-420G>A||||||,A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/7|c.127-420G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2476;p3_1000G_AF=0.494409;p3_1000G_AFR_AF=0.2534;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=19982;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.6024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74135380;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,23:44:99:582,0,584
chr2	73908605	rs702460	G	A	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.887;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.704;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs702460;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|3/8|c.256-68G>A||||||,A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/7|c.127-68G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2864;p3_1000G_AF=0.571885;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=20740;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.6938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74135732;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,10:26:99:313,0,486
chr2	73908670	rs702461	T	C	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.77;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.926;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.27;ReadPosRankSum=0.143;SOR=1.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs702461;dbSNPBuildID=86;ANN=C|splice_region_variant&intron_variant|LOW|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|3/8|c.256-3T>C||||||,C|splice_region_variant&intron_variant|LOW|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|2/7|c.127-3T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2884;p3_1000G_AF=0.575879;p3_1000G_AFR_AF=0.3911;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19864;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.7028;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74135797;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1963,2443;ESP6500_AA_AGE=554.3+/-379.0;ESP6500_AA_GTC=434,1095,674;ESP6500_CDS_SIZES=NM_001615.3:1131,NM_001199893.1:1002;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=5772,2828;ESP6500_EA_AGE=675.3+/-403.2;ESP6500_EA_GTC=1980,1812,508;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001615.3:intron,NM_001199893.1:intron;ESP6500_GL=ACTG2;ESP6500_GRCh38_POSITION=2:73908670;ESP6500_GTC=2414,2907,1182;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001615.3:c.256-3T>C,NM_001199893.1:c.127-3T>C;ESP6500_MAF=32.8837,44.5529,40.5274;ESP6500_TAC=7735,5271	GT:AD:DP:GQ:PL	0/1:24,9:33:99:235,0,693
chr2	73908771	rs756128	A	G	524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.16;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.354;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.893;SOR=0.913;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs756128;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|4/9|c.354A>G|p.Glu118Glu|476/1331|354/1131|118/376||,G|synonymous_variant|LOW|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|3/8|c.225A>G|p.Glu75Glu|347/1202|225/1002|75/333||;p3_1000G_AA=G|||;p3_1000G_AC=2864;p3_1000G_AF=0.571885;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=21044;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.6938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74135898;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1960,2446;ESP6500_AA_AGE=619.8+/-393.4;ESP6500_AA_GTC=433,1094,676;ESP6500_CDS_SIZES=NM_001615.3:1131,NM_001199893.1:1002;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=65;ESP6500_EA_AC=5713,2887;ESP6500_EA_AGE=451.0+/-362.6;ESP6500_EA_GTC=1937,1839,524;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001615.3:coding-synonymous,NM_001199893.1:coding-synonymous;ESP6500_GL=ACTG2;ESP6500_GRCh38_POSITION=2:73908771;ESP6500_GTC=2370,2933,1200;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001615.3:c.354A>G,NM_001199893.1:c.225A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001615.3:p.(E118),NM_001199893.1:p.(E75);ESP6500_MAF=33.5698,44.4848,41.0042;ESP6500_TAC=7673,5333	GT:AD:DP:GQ:PL	0/1:34,21:55:99:553,0,858
chr2	73913454	rs891699	A	T	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.622;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.099;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.018;SOR=0.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs891699;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|5/8|c.452-31A>T||||||,T|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|4/7|c.323-31A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3002;p3_1000G_AF=0.599441;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=18850;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.6958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74140581;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2348,2058;ESP6500_AA_AGE=563.5+/-381.2;ESP6500_AA_GTC=628,1092,483;ESP6500_CDS_SIZES=NM_001615.3:1131,NM_001199893.1:1002;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=58;ESP6500_EA_AC=5712,2888;ESP6500_EA_AGE=446.3+/-361.2;ESP6500_EA_GTC=1937,1838,525;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001615.3:intron,NM_001199893.1:intron;ESP6500_GL=ACTG2;ESP6500_GRCh38_POSITION=2:73913454;ESP6500_GTC=2565,2930,1008;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001615.3:c.452-31A>T,NM_001199893.1:c.323-31A>T;ESP6500_MAF=33.5814,46.709,38.0286;ESP6500_TAC=8060,4946	GT:AD:DP:GQ:PL	0/1:16,22:38:99:571,0,393
chr2	73913662	rs891698	T	C	992.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.04;SOR=0.651;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs891698;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|6/8|c.613+16T>C||||||,C|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|5/7|c.484+16T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3005;p3_1000G_AF=0.60004;p3_1000G_AFR_AF=0.4811;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=22955;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.6958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74140789;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2348,2058;ESP6500_AA_AGE=563.8+/-381.3;ESP6500_AA_GTC=628,1092,483;ESP6500_CDS_SIZES=NM_001615.3:1131,NM_001199893.1:1002;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=85;ESP6500_EA_AC=5711,2889;ESP6500_EA_AGE=447.0+/-361.4;ESP6500_EA_GTC=1936,1839,525;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001615.3:intron,NM_001199893.1:intron;ESP6500_GL=ACTG2;ESP6500_GRCh38_POSITION=2:73913662;ESP6500_GTC=2564,2931,1008;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001615.3:c.613+16T>C,NM_001199893.1:c.484+16T>C;ESP6500_MAF=33.593,46.709,38.0363;ESP6500_TAC=8059,4947	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1021,0,1006
chr2	73913761	rs891697	A	C	394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.32;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.722;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs891697;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|6/8|c.613+115A>C||||||,C|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|5/7|c.484+115A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2514;p3_1000G_AF=0.501997;p3_1000G_AFR_AF=0.264;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=21789;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.6054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74140888;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,13:30:99:423,0,499
chr2	73916863	rs1622752	T	A	1413.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=1.775;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1622752;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|8/8|c.987+98T>A||||||,A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|7/7|c.858+98T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2355;p3_1000G_AF=0.470248;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=20289;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.5994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74143990;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1442,129,0
chr2	73916913	rs1726028	G	A	627.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1726028;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001615.3|protein_coding|8/8|c.987+148G>A||||||,A|intron_variant|MODIFIER|ACTG2|ACTG2|transcript|NM_001199893.1|protein_coding|7/7|c.858+148G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2346;p3_1000G_AF=0.46845;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=19891;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.5994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74144040;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:656,60,0
chr2	73958749	rs4777;137083	A	T	1590.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=0.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4777;dbSNPBuildID=52;ANN=T|3_prime_UTR_variant|MODIFIER|DGUOK|DGUOK|transcript|NM_080916.2|protein_coding|7/7|c.*13A>T|||||13|,T|3_prime_UTR_variant|MODIFIER|DGUOK|DGUOK|transcript|NM_001318859.1|protein_coding|5/5|c.*13A>T|||||13|,T|3_prime_UTR_variant|MODIFIER|DGUOK|DGUOK|transcript|NM_001318860.1|protein_coding|6/6|c.*13A>T|||||13|,T|3_prime_UTR_variant|MODIFIER|DGUOK|DGUOK|transcript|NM_001318861.1|protein_coding|7/7|c.*13A>T|||||13|,T|3_prime_UTR_variant|MODIFIER|DGUOK|DGUOK|transcript|NM_001318862.1|protein_coding|7/7|c.*13A>T|||||13|,T|3_prime_UTR_variant|MODIFIER|DGUOK|DGUOK|transcript|NM_001318863.1|protein_coding|6/6|c.*13A>T|||||13|,T|3_prime_UTR_variant|MODIFIER|DGUOK|DGUOK|transcript|NM_080918.2|protein_coding|5/5|c.*13A>T|||||13|,T|intron_variant|MODIFIER|DGUOK-AS1|DGUOK-AS1|transcript|NR_104029.1|pseudogene|1/1|n.332-542T>A||||||,T|intron_variant|MODIFIER|DGUOK-AS1|DGUOK-AS1|transcript|NR_104030.1|pseudogene|1/1|n.306-542T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|DGUOK|DGUOK|transcript|NR_134893.1|pseudogene|4/4|n.555A>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DGUOK|DGUOK|transcript|NR_134894.1|pseudogene|5/5|n.703A>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DGUOK|DGUOK|transcript|NR_134895.1|pseudogene|3/3|n.367A>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DGUOK|DGUOK|transcript|NR_134896.1|pseudogene|4/4|n.537A>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DGUOK|DGUOK|transcript|NR_134897.1|pseudogene|6/6|n.747A>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DGUOK|DGUOK|transcript|NR_134898.1|pseudogene|5/5|n.671A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2658;p3_1000G_AF=0.530751;p3_1000G_AFR_AF=0.4584;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=19136;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.6093;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74185876;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2240,2166;ESP6500_AA_AGE=582.7+/-385.6;ESP6500_AA_GTC=564,1112,527;ESP6500_CDS_SIZES=NM_080918.2:570,NM_080916.2:834;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=97;ESP6500_EA_AC=5113,3487;ESP6500_EA_AGE=509.9+/-377.4;ESP6500_EA_GTC=1505,2103,692;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080918.2:utr-3,NM_080916.2:utr-3;ESP6500_GL=DGUOK;ESP6500_GRCh38_POSITION=2:73958749;ESP6500_GTC=2069,3215,1219;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_080918.2:c.*13A>T,NM_080916.2:c.*13A>T;ESP6500_MAF=40.5465,49.1602,43.4646;ESP6500_TAC=7353,5653;CLINVAR_ALLELEID=140786;CLINVAR_CLNDISDB=MedGen:C0342782,Orphanet:ORPHA35698|MedGen:C3151513,OMIM:251880,Orphanet:ORPHA279934|MedGen:CN169374;CLINVAR_CLNDN=Mitochondrial_DNA_depletion_syndrome|Mitochondrial_DNA-depletion_syndrome_3,_hepatocerebral|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.73958749A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25171;CLINVAR_GENEINFO=DGUOK:1716|DGUOK-AS1:100874048;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4777	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1619,162,0
chr2	74135332	rs35136039	T	TAGC	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35136039,rs2308245;dbSNPBuildID=126;ANN=TAGC|downstream_gene_variant|MODIFIER|BOLA3|BOLA3|transcript|NM_212552.2|protein_coding||c.*260_*261insGCT|||||68|,TAGC|downstream_gene_variant|MODIFIER|BOLA3|BOLA3|transcript|NM_001035505.1|protein_coding||c.*189_*190insGCT|||||68|,TAGC|intergenic_region|MODIFIER|TET3-BOLA3|TET3-BOLA3|intergenic_region|TET3-BOLA3|||n.74135332_74135333insAGC||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0
chr2	74147757	rs1667605	G	A	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.368;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1667605;dbSNPBuildID=89;ANN=A|upstream_gene_variant|MODIFIER|BOLA3-AS1|BOLA3-AS1|transcript|NR_045634.1|pseudogene||n.-224G>A|||||224|,A|upstream_gene_variant|MODIFIER|BOLA3-AS1|BOLA3-AS1|transcript|NR_045637.1|pseudogene||n.-224G>A|||||224|,A|upstream_gene_variant|MODIFIER|BOLA3-AS1|BOLA3-AS1|transcript|NR_045636.1|pseudogene||n.-224G>A|||||224|,A|downstream_gene_variant|MODIFIER|MOB1A|MOB1A|transcript|NM_001317111.1|protein_coding||c.*8811C>T|||||4841|,A|downstream_gene_variant|MODIFIER|MOB1A|MOB1A|transcript|NM_001317110.1|protein_coding||c.*8811C>T|||||4841|,A|downstream_gene_variant|MODIFIER|MOB1A|MOB1A|transcript|NM_001317112.1|protein_coding||c.*8881C>T|||||4841|,A|downstream_gene_variant|MODIFIER|MOB1A|MOB1A|transcript|NM_018221.4|protein_coding||c.*8811C>T|||||4841|,A|intron_variant|MODIFIER|BOLA3|BOLA3|transcript|NM_212552.2|protein_coding|1/3|c.54+64C>T||||||,A|intron_variant|MODIFIER|BOLA3|BOLA3|transcript|NM_001035505.1|protein_coding|1/2|c.54+64C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1960;p3_1000G_AF=0.391374;p3_1000G_AFR_AF=0.6399;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=9699;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.4344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74374884;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:38:38,0,102
chr2	74178021	rs10640206;rs397719976	G	GTTTTAA	25.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.887;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=0.887;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10640206;dbSNPBuildID=135,138;ANN=GTTTTAA|intron_variant|MODIFIER|MOB1A|MOB1A|transcript|NM_001317111.1|protein_coding|1/5|c.140+88_140+93dupTTAAAA||||||,GTTTTAA|intron_variant|MODIFIER|MOB1A|MOB1A|transcript|NM_001317110.1|protein_coding|1/5|c.14+634_14+639dupTTAAAA||||||,GTTTTAA|intron_variant|MODIFIER|MOB1A|MOB1A|transcript|NM_001317112.1|protein_coding|1/4|c.14+634_14+639dupTTAAAA||||||,GTTTTAA|intron_variant|MODIFIER|MOB1A|MOB1A|transcript|NM_018221.4|protein_coding|1/5|c.14+634_14+639dupTTAAAA||||||;p3_1000G_AC=3130;p3_1000G_AF=0.625;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=16991;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.5368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74405148;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,1:8:63:63,0,544
chr2	74221528	rs7587117	T	C	343.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.093;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.902;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7587117;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SLC4A5|SLC4A5|transcript|NM_021196.3|protein_coding|25/25|c.3380-27A>G||||||,C|intron_variant|MODIFIER|SLC4A5|SLC4A5|transcript|NM_133478.2|protein_coding|29/30|c.3332-27A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=934;p3_1000G_AF=0.186502;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=20596;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74448655;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=669,3737;ESP6500_AA_AGE=283.4+/-277.1;ESP6500_AA_GTC=53,563,1587;ESP6500_CDS_SIZES=NM_133478.2:3366,NM_021196.3:3414;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=73;ESP6500_EA_AC=2827,5773;ESP6500_EA_AGE=446.3+/-361.2;ESP6500_EA_GTC=466,1895,1939;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133478.2:intron,NM_021196.3:intron;ESP6500_GL=SLC4A5;ESP6500_GRCh38_POSITION=2:74221528;ESP6500_GTC=519,2458,3526;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133478.2:c.3332-27A>G,NM_021196.3:c.3380-27A>G;ESP6500_MAF=32.8721,15.1838,26.8799;ESP6500_TAC=3496,9510	GT:AD:DP:GQ:PL	0/1:14,15:29:99:372,0,350
chr2	74239467	rs4853018	G	A	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.672;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-1.63;SOR=0.678;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4853018;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|SLC4A5|SLC4A5|transcript|NM_021196.3|protein_coding|16/26|c.2187C>T|p.Gly729Gly|2189/3449|2187/3414|729/1137||,A|synonymous_variant|LOW|SLC4A5|SLC4A5|transcript|NM_133478.2|protein_coding|21/31|c.2187C>T|p.Gly729Gly|2585/6348|2187/3366|729/1121||;p3_1000G_AA=G|||;p3_1000G_AC=1135;p3_1000G_AF=0.226637;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=19259;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.4304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74466594;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=876,3530;ESP6500_AA_AGE=340.7+/-306.4;ESP6500_AA_GTC=71,734,1398;ESP6500_CDS_SIZES=NM_133478.2:3366,NM_021196.3:3414;ESP6500_CG=-9.0;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=74;ESP6500_EA_AC=3620,4980;ESP6500_EA_AGE=522.4+/-380.1;ESP6500_EA_GTC=757,2106,1437;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133478.2:coding-synonymous,NM_021196.3:coding-synonymous;ESP6500_GL=SLC4A5;ESP6500_GRCh38_POSITION=2:74239467;ESP6500_GTC=828,2840,2835;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133478.2:c.2187C>T,NM_021196.3:c.2187C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133478.2:p.(G729),NM_021196.3:p.(G729);ESP6500_MAF=42.093,19.882,34.5687;ESP6500_TAC=4496,8510	GT:AD:DP:GQ:PL	0/1:13,15:28:99:345,0,346
chr2	74259423	rs1006501	T	A	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.752;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.917;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1006501;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SLC4A5|SLC4A5|transcript|NM_021196.3|protein_coding|7/25|c.867+165A>T||||||,A|intron_variant|MODIFIER|SLC4A5|SLC4A5|transcript|NM_133478.2|protein_coding|12/30|c.867+165A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=813;p3_1000G_AF=0.16234;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=17379;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.0189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74486550;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:229,0,123
chr2	74285673	rs3771730	G	A	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.807;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.314;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771730;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SLC4A5|SLC4A5|transcript|NM_021196.3|protein_coding|3/25|c.401+100C>T||||||,A|intron_variant|MODIFIER|SLC4A5|SLC4A5|transcript|NM_133478.2|protein_coding|8/30|c.401+100C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=781;p3_1000G_AF=0.15595;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=20910;p3_1000G_EAS_AF=0.4087;p3_1000G_EUR_AF=0.0189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74512800;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,12:33:99:323,0,652
chr2	74304456	rs3771737	G	A	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771737;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SLC4A5|SLC4A5|transcript|NM_021196.3|protein_coding|2/25|c.271+33C>T||||||,A|intron_variant|MODIFIER|SLC4A5|SLC4A5|transcript|NM_133478.2|protein_coding|7/30|c.271+33C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1039;p3_1000G_AF=0.207468;p3_1000G_AFR_AF=0.3638;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=18287;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.0199;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74531583;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1393,3013;ESP6500_AA_AGE=460.0+/-352.4;ESP6500_AA_GTC=235,923,1045;ESP6500_CDS_SIZES=NM_133478.2:3366,NM_021196.3:3414;ESP6500_CG=3.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=217,8383;ESP6500_EA_AGE=90.4+/-152.6;ESP6500_EA_GTC=2,213,4085;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133478.2:intron,NM_021196.3:intron;ESP6500_GL=SLC4A5;ESP6500_GRCh38_POSITION=2:74304456;ESP6500_GTC=237,1136,5130;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133478.2:c.271+33C>T,NM_021196.3:c.271+33C>T;ESP6500_MAF=2.5233,31.616,12.3789;ESP6500_TAC=1610,11396	GT:AD:DP:GQ:PL	0/1:3,5:8:99:152,0,104
chr2	74362161	rs2268427;259239	G	C	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.08;ReadPosRankSum=0.061;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2268427;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_004082.4|protein_coding|30/31|c.3610-20C>G||||||,C|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001135041.2|protein_coding|24/25|c.3193-20C>G||||||,C|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_023019.3|protein_coding|25/26|c.3208-20C>G||||||,C|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001135040.2|protein_coding|26/27|c.3535-20C>G||||||,C|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001190837.1|protein_coding|29/30|c.3589-20C>G||||||,C|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001190836.1|protein_coding|26/27|c.3484-20C>G||||||,C|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NR_033935.1|pseudogene|25/26|n.3879-20C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=880;p3_1000G_AF=0.175719;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=19319;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74589288;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=884,3522;ESP6500_AA_AGE=345.1+/-308.4;ESP6500_AA_GTC=83,718,1402;ESP6500_CDS_SIZES=NM_023019.3:3435,NM_004082.4:3837,NM_001190837.1:3816,NM_001190836.1:3711,NM_001135041.2:3420,NM_001135040.2:3762;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=210,8390;ESP6500_EA_AGE=88.6+/-150.9;ESP6500_EA_GTC=2,206,4092;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023019.3:intron,NM_004082.4:intron,NM_001190837.1:intron,NM_001190836.1:intron,NM_001135041.2:intron,NM_001135040.2:intron;ESP6500_GL=DCTN1;ESP6500_GRCh38_POSITION=2:74362161;ESP6500_GTC=85,924,5494;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_023019.3:c.3208-20C>G,NM_004082.4:c.3610-20C>G,NM_001190837.1:c.3589-20C>G,NM_001190836.1:c.3484-20C>G,NM_001135041.2:c.3193-20C>G,NM_001135040.2:c.3535-20C>G;ESP6500_MAF=2.4419,20.0635,8.4115;ESP6500_TAC=1094,11912;CLINVAR_AF_ESP=0.0841;CLINVAR_AF_EXAC=0.08004;CLINVAR_AF_TGP=0.1757;CLINVAR_ALLELEID=250803;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.74362161G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DCTN1:1639;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2268427	GT:AD:DP:GQ:PL	0/1:7,14:21:99:471,0,200
chr2	74362770	rs2268426	G	T	551.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.793;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.439;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2268426;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_004082.4|protein_coding|29/31|c.3530-41C>A||||||,T|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001135041.2|protein_coding|23/25|c.3113-41C>A||||||,T|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_023019.3|protein_coding|24/26|c.3128-41C>A||||||,T|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001135040.2|protein_coding|25/27|c.3455-41C>A||||||,T|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001190837.1|protein_coding|28/30|c.3509-41C>A||||||,T|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001190836.1|protein_coding|25/27|c.3404-41C>A||||||,T|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NR_033935.1|pseudogene|24/26|n.3799-41C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=874;p3_1000G_AF=0.174521;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=20608;p3_1000G_EAS_AF=0.3899;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74589897;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=881,3525;ESP6500_AA_AGE=333.3+/-302.9;ESP6500_AA_GTC=84,713,1406;ESP6500_CDS_SIZES=NM_023019.3:3435,NM_004082.4:3837,NM_001190837.1:3816,NM_001190836.1:3711,NM_001135041.2:3420,NM_001135040.2:3762;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=209,8391;ESP6500_EA_AGE=86.1+/-148.5;ESP6500_EA_GTC=2,205,4093;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023019.3:intron,NM_004082.4:intron,NM_001190837.1:intron,NM_001190836.1:intron,NM_001135041.2:intron,NM_001135040.2:intron;ESP6500_GL=DCTN1;ESP6500_GRCh38_POSITION=2:74362770;ESP6500_GTC=86,918,5499;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_023019.3:c.3128-41C>A,NM_004082.4:c.3530-41C>A,NM_001190837.1:c.3509-41C>A,NM_001190836.1:c.3404-41C>A,NM_001135041.2:c.3113-41C>A,NM_001135040.2:c.3455-41C>A;ESP6500_MAF=2.4302,19.9955,8.3807;ESP6500_TAC=1090,11916	GT:AD:DP:GQ:PL	0/1:11,21:32:99:580,0,266
chr2	74371872	rs146355915;rs35914551	AAAG	A	208.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-0.134;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs146355915,rs35914551;dbSNPBuildID=134,131;ANN=A|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_004082.4|protein_coding|7/31|c.454-147_454-145delCTT||||||,A|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001135041.2|protein_coding|2/25|c.52-147_52-145delCTT||||||,A|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_023019.3|protein_coding|2/26|c.52-147_52-145delCTT||||||,A|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001135040.2|protein_coding|4/27|c.394-147_394-145delCTT||||||,A|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001190837.1|protein_coding|6/30|c.433-147_433-145delCTT||||||,A|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NM_001190836.1|protein_coding|4/27|c.343-147_343-145delCTT||||||,A|intron_variant|MODIFIER|DCTN1|DCTN1|transcript|NR_033935.1|pseudogene|4/26|n.655-147_655-145delCTT||||||;p3_1000G_AC=2264;p3_1000G_AF=0.452077;p3_1000G_AFR_AF=0.6188;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=21032;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.1421;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74598999;p3_1000G_GRCH37_REF=AAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:16,7:23:99:246,0,726
chr2	74414497	rs2240444	G	C	906.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.756;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=4.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.175;SOR=0.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2240444;dbSNPBuildID=98;ANN=C|synonymous_variant|LOW|C2orf81|C2orf81|transcript|NM_001316764.1|protein_coding|3/3|c.1680C>G|p.Pro560Pro|1750/2071|1680/1848|560/615||,C|synonymous_variant|LOW|C2orf81|C2orf81|transcript|NM_001145054.1|protein_coding|4/4|c.1599C>G|p.Pro533Pro|1908/2229|1599/1767|533/588||,C|synonymous_variant|LOW|C2orf81|C2orf81|transcript|NM_001316765.1|protein_coding|3/3|c.1533C>G|p.Pro511Pro|1603/1924|1533/1701|511/566||,C|synonymous_variant|LOW|C2orf81|C2orf81|transcript|NM_001316766.1|protein_coding|2/2|c.1395C>G|p.Pro465Pro|1833/2154|1395/1563|465/520||;p3_1000G_AA=C|||;p3_1000G_AC=2730;p3_1000G_AF=0.545128;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=16936;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74641624;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1103,281;ESP6500_AA_GTC=439,225,28;ESP6500_CDS_SIZES=NM_001145054.1:1767;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=44;ESP6500_EA_AC=423,2759;ESP6500_EA_GTC=31,361,1199;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145054.1:coding-synonymous;ESP6500_GL=C2orf81;ESP6500_GRCh38_POSITION=2:74414497;ESP6500_GTC=470,586,1227;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001145054.1:c.1599C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001145054.1:p.(P533);ESP6500_MAF=13.2935,20.3035,33.4209;ESP6500_TAC=1526,3040	GT:AD:DP:GQ:PL	0/1:31,35:66:99:935,0,855
chr2	74422789	rs200949812	TC	T	18.79	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.638;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=0.788;SOR=0.321;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs200949812;dbSNPBuildID=137;ANN=T|upstream_gene_variant|MODIFIER|C2orf81|C2orf81|transcript|NM_001316764.1|protein_coding||c.-1230delG|||||1160|,T|upstream_gene_variant|MODIFIER|C2orf81|C2orf81|transcript|NM_001316765.1|protein_coding||c.-1230delG|||||1160|,T|upstream_gene_variant|MODIFIER|C2orf81|C2orf81|transcript|NM_001316766.1|protein_coding||c.-6899delG|||||1160|,T|downstream_gene_variant|MODIFIER|RTKN|RTKN|transcript|NM_001015055.1|protein_coding||c.*3453delG|||||3071|,T|downstream_gene_variant|MODIFIER|RTKN|RTKN|transcript|NM_001015056.1|protein_coding||c.*3453delG|||||3071|,T|downstream_gene_variant|MODIFIER|RTKN|RTKN|transcript|NM_033046.2|protein_coding||c.*3453delG|||||3071|,T|intron_variant|MODIFIER|WDR54|WDR54|transcript|NM_001320823.1|protein_coding|2/9|c.268-76delC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|WDR54|WDR54|transcript|NM_001320824.1|protein_coding|2/9|c.223-76delC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|WDR54|WDR54|transcript|NM_001320825.1|protein_coding|1/8|c.67-76delC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|WDR54|WDR54|transcript|NM_032118.3|protein_coding|2/9|c.223-76delC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:17,5:22:56:56,0,594
chr2	74422807	rs3732293	A	C	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.209;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.406;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.057;SOR=0.986;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732293;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|C2orf81|C2orf81|transcript|NM_001316764.1|protein_coding||c.-1247T>G|||||1177|,C|upstream_gene_variant|MODIFIER|C2orf81|C2orf81|transcript|NM_001316765.1|protein_coding||c.-1247T>G|||||1177|,C|upstream_gene_variant|MODIFIER|C2orf81|C2orf81|transcript|NM_001316766.1|protein_coding||c.-6916T>G|||||1177|,C|downstream_gene_variant|MODIFIER|RTKN|RTKN|transcript|NM_001015055.1|protein_coding||c.*3436T>G|||||3054|,C|downstream_gene_variant|MODIFIER|RTKN|RTKN|transcript|NM_001015056.1|protein_coding||c.*3436T>G|||||3054|,C|downstream_gene_variant|MODIFIER|RTKN|RTKN|transcript|NM_033046.2|protein_coding||c.*3436T>G|||||3054|,C|intron_variant|MODIFIER|WDR54|WDR54|transcript|NM_001320823.1|protein_coding|2/9|c.268-63A>C||||||,C|intron_variant|MODIFIER|WDR54|WDR54|transcript|NM_001320824.1|protein_coding|2/9|c.223-63A>C||||||,C|intron_variant|MODIFIER|WDR54|WDR54|transcript|NM_001320825.1|protein_coding|1/8|c.67-63A>C||||||,C|intron_variant|MODIFIER|WDR54|WDR54|transcript|NM_032118.3|protein_coding|2/9|c.223-63A>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=808;p3_1000G_AF=0.161342;p3_1000G_AFR_AF=0.1135;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=19017;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.0915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74649934;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=128,1256;ESP6500_AA_GTC=11,106,575;ESP6500_CDS_SIZES=NM_032118.2:1005;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=64;ESP6500_EA_AC=211,2971;ESP6500_EA_GTC=11,189,1391;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032118.2:intron;ESP6500_GL=WDR54;ESP6500_GRCh38_POSITION=2:74422807;ESP6500_GTC=22,295,1966;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_032118.2:c.223-63A>C;ESP6500_MAF=6.631,9.2486,7.4244;ESP6500_TAC=339,4227	GT:AD:DP:GQ:PL	0/1:15,17:32:99:345,0,478
chr2	74455385	rs2268417	C	T	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.624;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.858;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-1.3;SOR=0.297;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2268417;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|WBP1|WBP1|transcript|NM_012477.3|protein_coding||c.-3218C>T|||||3015|,T|intron_variant|MODIFIER|INO80B|INO80B|transcript|NM_031288.3|protein_coding|1/4|c.59-21C>T||||||,T|intron_variant|MODIFIER|INO80B-WBP1|INO80B-WBP1|transcript|NR_037849.1|pseudogene|1/7|n.153-21C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2697;p3_1000G_AF=0.538538;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=17553;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74682512;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3364;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3337,1069;ESP6500_AA_AGE=370.5+/-319.6;ESP6500_AA_GTC=1279,779,145;ESP6500_CDS_SIZES=NM_031288.3:1071;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=72;ESP6500_EA_AC=1265,7335;ESP6500_EA_AGE=731.5+/-406.8;ESP6500_EA_GTC=101,1063,3136;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031288.3:intron;ESP6500_GL=INO80B;ESP6500_GRCh38_POSITION=2:74455385;ESP6500_GTC=1380,1842,3281;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_031288.3:c.59-21C>T;ESP6500_MAF=14.7093,24.2624,35.3837;ESP6500_TAC=4602,8404	GT:AD:DP:GQ:PL	0/1:24,17:41:99:428,0,705
chr2	74459202	rs2270016	C	T	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.589;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.393;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270016;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|INO80B|INO80B|transcript|NM_031288.3|protein_coding||c.*1338C>T|||||1242|,T|downstream_gene_variant|MODIFIER|MOGS|MOGS|transcript|NM_006302.2|protein_coding||c.*2073G>A|||||1855|,T|downstream_gene_variant|MODIFIER|MOGS|MOGS|transcript|NM_001146158.1|protein_coding||c.*2073G>A|||||1855|,T|intron_variant|MODIFIER|INO80B-WBP1|INO80B-WBP1|transcript|NR_037849.1|pseudogene|5/7|n.1162-441C>T||||||,T|intron_variant|MODIFIER|WBP1|WBP1|transcript|NM_012477.3|protein_coding|1/3|c.70-441C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2746;p3_1000G_AF=0.548323;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=13529;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74686329;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:172,0,272
chr2	74460131	rs113321228	A	ACACATTT	1694.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.683;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=8.709;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=0.333;SOR=1.631;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113321228;dbSNPBuildID=132;ANN=ACACATTT|downstream_gene_variant|MODIFIER|INO80B|INO80B|transcript|NM_031288.3|protein_coding||c.*2267_*2268insCACATTT|||||2172|,ACACATTT|downstream_gene_variant|MODIFIER|MOGS|MOGS|transcript|NM_006302.2|protein_coding||c.*1137_*1143dupAAATGTG|||||925|,ACACATTT|downstream_gene_variant|MODIFIER|MOGS|MOGS|transcript|NM_001146158.1|protein_coding||c.*1137_*1143dupAAATGTG|||||925|,ACACATTT|intron_variant|MODIFIER|INO80B-WBP1|INO80B-WBP1|transcript|NR_037849.1|pseudogene|7/7|n.1441+85_1442-81dupCATTTCA||||||INFO_REALIGN_3_PRIME,ACACATTT|intron_variant|MODIFIER|WBP1|WBP1|transcript|NM_012477.3|protein_coding|3/3|c.349+85_350-81dupCATTTCA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2126;p3_1000G_AF=0.424521;p3_1000G_AFR_AF=0.4682;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=19110;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.1551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74687258;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:60,42:102:99:1732,0,4832
chr2	74460423	rs8469	T	C	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=59.89;MQRankSum=-0.647;QD=18.49;ReadPosRankSum=1.26;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8469;dbSNPBuildID=52;ANN=C|synonymous_variant|LOW|WBP1|WBP1|transcript|NM_012477.3|protein_coding|4/4|c.552T>C|p.Pro184Pro|755/1223|552/810|184/269||,C|downstream_gene_variant|MODIFIER|INO80B|INO80B|transcript|NM_031288.3|protein_coding||c.*2559T>C|||||2463|,C|downstream_gene_variant|MODIFIER|MOGS|MOGS|transcript|NM_006302.2|protein_coding||c.*852A>G|||||634|,C|downstream_gene_variant|MODIFIER|MOGS|MOGS|transcript|NM_001146158.1|protein_coding||c.*852A>G|||||634|,C|non_coding_transcript_exon_variant|MODIFIER|INO80B-WBP1|INO80B-WBP1|transcript|NR_037849.1|pseudogene|8/8|n.1644T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2625;p3_1000G_AF=0.524161;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=15618;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74687550;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3085,1321;ESP6500_AA_GTC=1140,805,258;ESP6500_CDS_SIZES=NM_012477.3:810;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=64;ESP6500_EA_AC=1125,7473;ESP6500_EA_GTC=88,949,3262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012477.3:coding-synonymous;ESP6500_GL=WBP1;ESP6500_GRCh38_POSITION=2:74460423;ESP6500_GTC=1228,1754,3520;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012477.3:c.552T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012477.3:p.(P184);ESP6500_MAF=13.0844,29.9818,32.3747;ESP6500_TAC=4210,8794	GT:AD:DP:GQ:PL	0/1:9,17:26:99:509,0,219
chr2	74462912	rs2268416;95363	G	A	556.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.068;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.264;SOR=1.189;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2268416;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|MOGS|MOGS|transcript|NM_006302.2|protein_coding|4/4|c.877C>T|p.Pro293Ser|1040/2895|877/2514|293/837||,A|missense_variant|MODERATE|MOGS|MOGS|transcript|NM_001146158.1|protein_coding|5/5|c.559C>T|p.Pro187Ser|714/2569|559/2196|187/731||,A|downstream_gene_variant|MODIFIER|INO80B|INO80B|transcript|NM_031288.3|protein_coding||c.*5048G>A|||||4952|,A|downstream_gene_variant|MODIFIER|INO80B-WBP1|INO80B-WBP1|transcript|NR_037849.1|pseudogene||n.*2021G>A|||||2021|,A|downstream_gene_variant|MODIFIER|WBP1|WBP1|transcript|NM_012477.3|protein_coding||c.*2231G>A|||||2021|;p3_1000G_AA=A|||;p3_1000G_AC=2698;p3_1000G_AF=0.538738;p3_1000G_AFR_AF=0.8714;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=18027;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74690039;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2873,1041;ESP6500_AA_GTC=1062,749,146;ESP6500_CDS_SIZES=NM_006302.2:2514,NM_001146158.1:2196;ESP6500_CG=0.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=118;ESP6500_EA_AC=1202,7096;ESP6500_EA_GTC=95,1012,3042;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006302.2:missense,NM_001146158.1:missense;ESP6500_GL=MOGS;ESP6500_GRCh38_POSITION=2:74462912;ESP6500_GS=74,74;ESP6500_GTC=1157,1761,3188;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006302.2:c.877C>T,NM_001146158.1:c.559C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006302.2:p.(P293S),NM_001146158.1:p.(P187S);ESP6500_MAF=14.4854,26.5968,33.3688;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=4075,8137;CLINVAR_AF_ESP=0.3337;CLINVAR_AF_EXAC=0.27923;CLINVAR_ALLELEID=101262;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:CN169374;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.74462912G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:561493|UniProtKB_(protein):Q13724#VAR_049234;CLINVAR_GENEINFO=MOGS:7841;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2268416	GT:AD:DP:GQ:PL	0/1:21,21:42:99:585,0,536
chr2	74463251	rs1063588;95362	C	T	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.922;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.309;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.196;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1063588;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|MOGS|MOGS|transcript|NM_006302.2|protein_coding|3/4|c.715G>A|p.Asp239Asn|878/2895|715/2514|239/837||,T|missense_variant|MODERATE|MOGS|MOGS|transcript|NM_001146158.1|protein_coding|4/5|c.397G>A|p.Asp133Asn|552/2569|397/2196|133/731||,T|downstream_gene_variant|MODIFIER|INO80B-WBP1|INO80B-WBP1|transcript|NR_037849.1|pseudogene||n.*2360C>T|||||2360|,T|downstream_gene_variant|MODIFIER|WBP1|WBP1|transcript|NM_012477.3|protein_coding||c.*2570C>T|||||2360|;p3_1000G_AA=C|||;p3_1000G_AC=2598;p3_1000G_AF=0.51877;p3_1000G_AFR_AF=0.8086;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=20904;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74690378;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2661,1287;ESP6500_AA_GTC=899,863,212;ESP6500_CDS_SIZES=NM_006302.2:2514,NM_001146158.1:2196;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=118;ESP6500_EA_AC=1138,7210;ESP6500_EA_GTC=82,974,3118;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006302.2:missense,NM_001146158.1:missense;ESP6500_GL=MOGS;ESP6500_GRCh38_POSITION=2:74463251;ESP6500_GS=23,23;ESP6500_GTC=981,1837,3330;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006302.2:c.715G>A,NM_001146158.1:c.397G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006302.2:p.(D239N),NM_001146158.1:p.(D133N);ESP6500_MAF=13.632,32.5988,30.8962;ESP6500_PH=possibly-damaging:0.561,possibly-damaging:0.561;ESP6500_TAC=3799,8497;CLINVAR_AF_ESP=0.3090;CLINVAR_AF_EXAC=0.26694;CLINVAR_ALLELEID=101261;CLINVAR_CLNDISDB=MedGen:C0282577,Orphanet:ORPHA137,SNOMED_CT:238049009|MedGen:CN169374;CLINVAR_CLNDN=Congenital_disorder_of_glycosylation|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.74463251C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:561495|UniProtKB_(protein):Q13724#VAR_019362;CLINVAR_GENEINFO=MOGS:7841;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1063588	GT:AD:DP:GQ:PL	0/1:23,16:39:99:382,0,688
chr2	74472651	rs1047911	C	A	1007.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.566;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=1.724;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.128;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1047911;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|MRPL53|MRPL53|transcript|NM_053050.4|protein_coding|1/3|c.10G>T|p.Ala4Ser|165/655|10/339|4/112||,A|downstream_gene_variant|MODIFIER|CCDC142|CCDC142|transcript|NM_032779.3|protein_coding||c.*1895G>T|||||181|;p3_1000G_AA=C|||;p3_1000G_AC=2588;p3_1000G_AF=0.516773;p3_1000G_AFR_AF=0.8064;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=20314;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74699778;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3272;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3112,1294;ESP6500_AA_AGE=679.3+/-403.7;ESP6500_AA_GTC=1106,900,197;ESP6500_CDS_SIZES=NM_053050.4:339;ESP6500_CG=2.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=53;ESP6500_EA_AC=1187,7411;ESP6500_EA_AGE=228.6+/-263.6;ESP6500_EA_GTC=88,1011,3200;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_053050.4:missense;ESP6500_GL=MRPL53;ESP6500_GRCh38_POSITION=2:74472651;ESP6500_GS=99;ESP6500_GTC=1194,1911,3397;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_053050.4:c.10G>T;ESP6500_HGVS_PROTEIN_VAR=NM_053050.4:p.(A4S);ESP6500_MAF=13.8055,29.369,33.0591;ESP6500_PH=benign:0.0;ESP6500_TAC=4299,8705	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1036,0,1275
chr2	74483364	rs6707475	C	T	482.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.967;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0.992;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=1.63;SOR=0.838;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6707475;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|TTC31|TTC31|transcript|NM_022492.4|protein_coding|2/13|c.83C>T|p.Ala28Val|106/2929|83/1560|28/519||,T|upstream_gene_variant|MODIFIER|CCDC142|CCDC142|transcript|NM_032779.3|protein_coding||c.-527G>A|||||134|,T|non_coding_transcript_exon_variant|MODIFIER|TTC31|TTC31|transcript|NR_027749.1|pseudogene|2/12|n.106C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2741;p3_1000G_AF=0.547324;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=17254;p3_1000G_EAS_AF=0.8224;p3_1000G_EUR_AF=0.159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74710491;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2987,943;ESP6500_AA_GTC=1146,695,124;ESP6500_CDS_SIZES=NM_022492.4:1560;ESP6500_CG=0.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=68;ESP6500_EA_AC=1204,7124;ESP6500_EA_GTC=95,1014,3055;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022492.4:missense;ESP6500_GL=TTC31;ESP6500_GRCh38_POSITION=2:74483364;ESP6500_GS=64;ESP6500_GTC=1241,1709,3179;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022492.4:c.83C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022492.4:p.(A28V);ESP6500_MAF=14.4573,23.9949,34.1899;ESP6500_PH=benign:0.0;ESP6500_TAC=4191,8067	GT:AD:DP:GQ:PL	0/1:36,23:59:99:511,0,1044
chr2	74492783	rs17009980	G	T	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.467;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.237;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=0;SOR=0.681;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17009980;dbSNPBuildID=123;ANN=T|downstream_gene_variant|MODIFIER|LBX2|LBX2|transcript|NM_001282430.1|protein_coding||c.*5144C>A|||||4734|,T|downstream_gene_variant|MODIFIER|LBX2|LBX2|transcript|NM_001009812.1|protein_coding||c.*5144C>A|||||4734|,T|intron_variant|MODIFIER|TTC31|TTC31|transcript|NM_022492.4|protein_coding|12/12|c.1263+36G>T||||||,T|intron_variant|MODIFIER|TTC31|TTC31|transcript|NR_027749.1|pseudogene|11/11|n.1177+36G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1669;p3_1000G_AF=0.333267;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=17540;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.1531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74719910;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=548,3452;ESP6500_AA_GTC=46,456,1498;ESP6500_CDS_SIZES=NM_022492.4:1560;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=27;ESP6500_EA_AC=1092,7236;ESP6500_EA_GTC=78,936,3150;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022492.4:intron;ESP6500_GL=TTC31;ESP6500_GRCh38_POSITION=2:74492783;ESP6500_GTC=124,1392,4648;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_022492.4:c.1263+36G>T;ESP6500_MAF=13.1124,13.7,13.303;ESP6500_TAC=1640,10688	GT:AD:DP:GQ:PL	0/1:11,5:16:99:143,0,345
chr2	74492875	rs4853026	C	G	843.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.33;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4853026;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|LBX2|LBX2|transcript|NM_001282430.1|protein_coding||c.*5052G>C|||||4642|,G|downstream_gene_variant|MODIFIER|LBX2|LBX2|transcript|NM_001009812.1|protein_coding||c.*5052G>C|||||4642|,G|intron_variant|MODIFIER|TTC31|TTC31|transcript|NM_022492.4|protein_coding|12/12|c.1264-47C>G||||||,G|intron_variant|MODIFIER|TTC31|TTC31|transcript|NR_027749.1|pseudogene|11/11|n.1178-47C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4981;p3_1000G_AF=0.994609;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=18892;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74720002;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4253,11;ESP6500_AA_GTC=2121,11,0;ESP6500_CDS_SIZES=NM_022492.4:1560;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=43;ESP6500_EA_AC=8318,170;ESP6500_EA_GTC=4075,168,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022492.4:intron;ESP6500_GL=TTC31;ESP6500_GRCh38_POSITION=2:74492875;ESP6500_GTC=6196,179,1;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_022492.4:c.1264-47C>G;ESP6500_MAF=2.0028,0.258,1.4194;ESP6500_TAC=12571,181	GT:AD:DP:GQ:PL	1/1:0,21:21:63:872,63,0
chr2	74498017	rs6546908	T	C	1394.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.36;SOR=2.133;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6546908;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|LBX2|LBX2|transcript|NM_001282430.1|protein_coding|2/2|c.507A>G|p.Glu169Glu|528/1028|507/597|169/198||,C|synonymous_variant|LOW|LBX2|LBX2|transcript|NM_001009812.1|protein_coding|2/2|c.495A>G|p.Glu165Glu|952/1452|495/585|165/194||,C|upstream_gene_variant|MODIFIER|LBX2-AS1|LBX2-AS1|transcript|NR_024606.1|pseudogene||n.-4600T>C|||||4600|,C|downstream_gene_variant|MODIFIER|TTC31|TTC31|transcript|NM_022492.4|protein_coding||c.*4799T>C|||||3453|,C|downstream_gene_variant|MODIFIER|TTC31|TTC31|transcript|NR_027749.1|pseudogene||n.*3453T>C|||||3453|;p3_1000G_AA=C|||;p3_1000G_AC=4864;p3_1000G_AF=0.971246;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9553;p3_1000G_AN=5008;p3_1000G_DP=15610;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74725144;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4342,62;ESP6500_AA_AGE=54.2+/-90.2;ESP6500_AA_GTC=2143,56,3;ESP6500_CDS_SIZES=NM_001009812.1:585;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=7937,661;ESP6500_EA_AGE=162.6+/-215.3;ESP6500_EA_GTC=3667,603,29;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001009812.1:coding-synonymous;ESP6500_GL=LBX2;ESP6500_GRCh38_POSITION=2:74498017;ESP6500_GTC=5810,659,32;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001009812.1:c.495A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001009812.1:p.(E165);ESP6500_MAF=7.6878,1.4078,5.5607;ESP6500_TAC=12279,723	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1423,117,0
chr2	74498051	rs17009998	G	A	456.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.746;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=10.567;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=0.783;SOR=0.135;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17009998;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|LBX2|LBX2|transcript|NM_001282430.1|protein_coding|2/2|c.473C>T|p.Ser158Phe|494/1028|473/597|158/198||,A|missense_variant|MODERATE|LBX2|LBX2|transcript|NM_001009812.1|protein_coding|2/2|c.461C>T|p.Ser154Phe|918/1452|461/585|154/194||,A|upstream_gene_variant|MODIFIER|LBX2-AS1|LBX2-AS1|transcript|NR_024606.1|pseudogene||n.-4566G>A|||||4566|,A|downstream_gene_variant|MODIFIER|TTC31|TTC31|transcript|NM_022492.4|protein_coding||c.*4833G>A|||||3487|,A|downstream_gene_variant|MODIFIER|TTC31|TTC31|transcript|NR_027749.1|pseudogene||n.*3487G>A|||||3487|;p3_1000G_AA=G|||;p3_1000G_AC=1668;p3_1000G_AF=0.333067;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=15440;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.1551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74725178;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=662,3744;ESP6500_AA_AGE=276.3+/-273.0;ESP6500_AA_GTC=54,554,1595;ESP6500_CDS_SIZES=NM_001009812.1:585;ESP6500_CG=3.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=48;ESP6500_EA_AC=1139,7459;ESP6500_EA_AGE=227.9+/-263.1;ESP6500_EA_GTC=77,985,3237;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001009812.1:missense;ESP6500_GL=LBX2;ESP6500_GRCh38_POSITION=2:74498051;ESP6500_GS=155;ESP6500_GTC=131,1539,4832;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001009812.1:c.461C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001009812.1:p.(S154F);ESP6500_MAF=13.2473,15.025,13.8496;ESP6500_PH=benign:0.006;ESP6500_TAC=1801,11203	GT:AD:DP:GQ:PL	0/1:35,22:57:99:485,0,1109
chr2	74499633	rs11688069	C	T	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11688069;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|LBX2|LBX2|transcript|NM_001282430.1|protein_coding||c.-96G>A|||||75|,T|upstream_gene_variant|MODIFIER|LBX2-AS1|LBX2-AS1|transcript|NR_024606.1|pseudogene||n.-2984C>T|||||2984|,T|intron_variant|MODIFIER|LBX2|LBX2|transcript|NM_001009812.1|protein_coding|1/1|c.194-1315G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1670;p3_1000G_AF=0.333466;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=10093;p3_1000G_EAS_AF=0.8224;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74726760;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:56:103,0,56
chr2	74505288	rs2240443	T	G	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.433;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=-1.723;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2240443;dbSNPBuildID=98;ANN=G|upstream_gene_variant|MODIFIER|LBX2|LBX2|transcript|NM_001009812.1|protein_coding||c.-2429A>C|||||1972|,G|downstream_gene_variant|MODIFIER|LBX2-AS1|LBX2-AS1|transcript|NR_024606.1|pseudogene||n.*223T>G|||||223|,G|intron_variant|MODIFIER|PCGF1|PCGF1|transcript|NM_032673.2|protein_coding|8/8|c.732+51A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2606;p3_1000G_AF=0.520367;p3_1000G_AFR_AF=0.8109;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=15145;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.1561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74732415;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3080,1324;ESP6500_AA_GTC=1105,870,227;ESP6500_CDS_SIZES=NM_032673.2:780;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=24;ESP6500_EA_AC=1159,7439;ESP6500_EA_GTC=84,991,3224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032673.2:intron;ESP6500_GL=PCGF1;ESP6500_GRCh38_POSITION=2:74505288;ESP6500_GTC=1189,1861,3451;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_032673.2:c.732+51A>C;ESP6500_MAF=13.4799,30.0636,32.6027;ESP6500_TAC=4239,8763	GT:AD:DP:GQ:PL	0/1:9,5:14:99:127,0,296
chr2	74518953	rs6709863	C	T	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.269;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.026;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6709863;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|TLX2|TLX2|transcript|NM_016170.4|protein_coding||c.*2764C>T|||||1805|,T|intron_variant|MODIFIER|DQX1|DQX1|transcript|NM_133637.2|protein_coding|11/11|c.1997+87G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1760;p3_1000G_AF=0.351438;p3_1000G_AFR_AF=0.1982;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=18824;p3_1000G_EAS_AF=0.8185;p3_1000G_EUR_AF=0.1581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74746080;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:239,0,173
chr2	74519195	rs6546909	A	T	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.209;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.027;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6546909;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|DQX1|DQX1|transcript|NM_133637.2|protein_coding|11/12|c.1842T>A|p.Leu614Leu|2007/2634|1842/2154|614/717||,T|downstream_gene_variant|MODIFIER|TLX2|TLX2|transcript|NM_016170.4|protein_coding||c.*3006A>T|||||2047|;p3_1000G_AA=T|||;p3_1000G_AC=2620;p3_1000G_AF=0.523163;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=19600;p3_1000G_EAS_AF=0.8185;p3_1000G_EUR_AF=0.16;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74746322;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3057,1349;ESP6500_AA_AGE=447.7+/-348.4;ESP6500_AA_GTC=1084,889,230;ESP6500_CDS_SIZES=NM_133637.2:2154;ESP6500_CG=2.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=91;ESP6500_EA_AC=1324,7276;ESP6500_EA_AGE=758.0+/-407.5;ESP6500_EA_GTC=109,1106,3085;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133637.2:coding-synonymous;ESP6500_GL=DQX1;ESP6500_GRCh38_POSITION=2:74519195;ESP6500_GTC=1193,1995,3315;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_133637.2:c.1842T>A;ESP6500_HGVS_PROTEIN_VAR=NM_133637.2:p.(L614);ESP6500_MAF=15.3953,30.6173,33.6845;ESP6500_TAC=4381,8625	GT:AD:DP:GQ:PL	0/1:15,14:29:99:347,0,359
chr2	74528984	rs3835033;rs570810307	G	GA	170.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.599;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.901;SOR=0.418;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3835033;dbSNPBuildID=142,107;ANN=GA|upstream_gene_variant|MODIFIER|DQX1|DQX1|transcript|NM_133637.2|protein_coding||c.-3256dupT|||||2704|,GA|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_013247.4|protein_coding||c.-1023_-1022insA|||||420|,GA|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_001321727.1|protein_coding||c.-1023_-1022insA|||||420|,GA|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_001321728.1|protein_coding||c.-1023_-1022insA|||||420|,GA|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_145074.2|protein_coding||c.-1023_-1022insA|||||420|,GA|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135769.1|pseudogene||n.-421_-420insA|||||420|,GA|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135770.1|pseudogene||n.-421_-420insA|||||420|,GA|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135771.1|pseudogene||n.-421_-420insA|||||420|,GA|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135772.1|pseudogene||n.-421_-420insA|||||420|,GA|downstream_gene_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_032603.3|protein_coding||c.*4621dupT|||||3274|,GA|downstream_gene_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_001289165.1|protein_coding||c.*4621dupT|||||3274|,GA|downstream_gene_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_001289164.1|protein_coding||c.*4621dupT|||||3274|,GA|intron_variant|MODIFIER|AUP1|AUP1|transcript|NM_181575.4|protein_coding|3/11|c.340-50dupT||||||,GA|intron_variant|MODIFIER|AUP1|AUP1|transcript|NR_126510.1|pseudogene|3/11|n.608-50dupT||||||,GA|non_coding_transcript_exon_variant|MODIFIER|AUP1|AUP1|transcript|NR_126511.1|pseudogene|3/11|n.754dupT||||||;p3_1000G_AC=2431;p3_1000G_AF=0.485423;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=21736;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74756111;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,9:15:99:208,0,124
chr2	74529049	rs2231250	G	C	687.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.325;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.93;ReadPosRankSum=-0.446;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2231250;dbSNPBuildID=98;ANN=C|upstream_gene_variant|MODIFIER|DQX1|DQX1|transcript|NM_133637.2|protein_coding||c.-3320C>G|||||2768|,C|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_013247.4|protein_coding||c.-958G>C|||||356|,C|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_001321727.1|protein_coding||c.-958G>C|||||356|,C|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_001321728.1|protein_coding||c.-958G>C|||||356|,C|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_145074.2|protein_coding||c.-958G>C|||||356|,C|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135769.1|pseudogene||n.-356G>C|||||356|,C|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135770.1|pseudogene||n.-356G>C|||||356|,C|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135771.1|pseudogene||n.-356G>C|||||356|,C|upstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135772.1|pseudogene||n.-356G>C|||||356|,C|downstream_gene_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_032603.3|protein_coding||c.*4557C>G|||||3210|,C|downstream_gene_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_001289165.1|protein_coding||c.*4557C>G|||||3210|,C|downstream_gene_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_001289164.1|protein_coding||c.*4557C>G|||||3210|,C|intron_variant|MODIFIER|AUP1|AUP1|transcript|NM_181575.4|protein_coding|3/11|c.339+83C>G||||||,C|intron_variant|MODIFIER|AUP1|AUP1|transcript|NR_126510.1|pseudogene|3/11|n.607+83C>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|AUP1|AUP1|transcript|NR_126511.1|pseudogene|3/11|n.690C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2504;p3_1000G_AF=0.5;p3_1000G_AFR_AF=0.6891;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=18641;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74756176;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,22:30:99:716,0,180
chr2	74534295	rs6707302	T	C	1931.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.87;ClippingRankSum=0;DP=150;ExcessHet=3.0103;FS=2.052;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.092;SOR=0.889;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6707302;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|AUP1|AUP1|transcript|NM_181575.4|protein_coding||c.-4666A>G|||||4398|,C|upstream_gene_variant|MODIFIER|AUP1|AUP1|transcript|NR_126510.1|pseudogene||n.-4398A>G|||||4398|,C|upstream_gene_variant|MODIFIER|AUP1|AUP1|transcript|NR_126511.1|pseudogene||n.-4398A>G|||||4398|,C|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_013247.4|protein_coding||c.*1310T>C|||||739|,C|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_001321727.1|protein_coding||c.*1310T>C|||||739|,C|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_001321728.1|protein_coding||c.*1310T>C|||||739|,C|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_145074.2|protein_coding||c.*1310T>C|||||739|,C|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135769.1|pseudogene||n.*739T>C|||||739|,C|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135770.1|pseudogene||n.*739T>C|||||739|,C|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135771.1|pseudogene||n.*739T>C|||||739|,C|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135772.1|pseudogene||n.*739T>C|||||739|,C|intron_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_032603.3|protein_coding|11/13|c.1939+21A>G||||||,C|intron_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_001289165.1|protein_coding|7/9|c.856+21A>G||||||,C|intron_variant|MODIFIER|LOXL3|LOXL3|transcript|NM_001289164.1|protein_coding|9/11|c.1504+21A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2780;p3_1000G_AF=0.555112;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=23163;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74761422;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3505,901;ESP6500_AA_AGE=345.7+/-308.6;ESP6500_AA_GTC=1405,695,103;ESP6500_CDS_SIZES=NM_032603.2:2262;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=152;ESP6500_EA_AC=1265,7335;ESP6500_EA_AGE=760.8+/-407.6;ESP6500_EA_GTC=100,1065,3135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032603.2:intron;ESP6500_GL=LOXL3;ESP6500_GRCh38_POSITION=2:74534295;ESP6500_GTC=1505,1760,3238;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032603.2:c.1939+21A>G;ESP6500_MAF=14.7093,20.4494,36.6754;ESP6500_TAC=4770,8236	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1960,0,2190
chr2	74534412	rs17010021;262091	T	A	1831.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.95;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=1.423;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.898;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17010021;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|LOXL3|LOXL3|transcript|NM_032603.3|protein_coding|11/14|c.1843A>T|p.Ile615Phe|1944/3710|1843/2262|615/753||,A|missense_variant|MODERATE|LOXL3|LOXL3|transcript|NM_001289165.1|protein_coding|7/10|c.760A>T|p.Ile254Phe|1226/2992|760/1179|254/392||,A|missense_variant|MODERATE|LOXL3|LOXL3|transcript|NM_001289164.1|protein_coding|9/12|c.1408A>T|p.Ile470Phe|1509/3275|1408/1827|470/608||,A|upstream_gene_variant|MODIFIER|AUP1|AUP1|transcript|NM_181575.4|protein_coding||c.-4783A>T|||||4515|,A|upstream_gene_variant|MODIFIER|AUP1|AUP1|transcript|NR_126510.1|pseudogene||n.-4515A>T|||||4515|,A|upstream_gene_variant|MODIFIER|AUP1|AUP1|transcript|NR_126511.1|pseudogene||n.-4515A>T|||||4515|,A|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_013247.4|protein_coding||c.*1427T>A|||||856|,A|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_001321727.1|protein_coding||c.*1427T>A|||||856|,A|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_001321728.1|protein_coding||c.*1427T>A|||||856|,A|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NM_145074.2|protein_coding||c.*1427T>A|||||856|,A|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135769.1|pseudogene||n.*856T>A|||||856|,A|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135770.1|pseudogene||n.*856T>A|||||856|,A|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135771.1|pseudogene||n.*856T>A|||||856|,A|downstream_gene_variant|MODIFIER|HTRA2|HTRA2|transcript|NR_135772.1|pseudogene||n.*856T>A|||||856|;p3_1000G_AA=T|||;p3_1000G_AC=651;p3_1000G_AF=0.129992;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=24452;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.0427;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74761539;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=126,4280;ESP6500_AA_AGE=93.0+/-131.7;ESP6500_AA_GTC=1,124,2078;ESP6500_CDS_SIZES=NM_032603.2:2262;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=209;ESP6500_EA_AC=309,8291;ESP6500_EA_AGE=110.2+/-170.6;ESP6500_EA_GTC=5,299,3996;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032603.2:missense;ESP6500_GL=LOXL3;ESP6500_GRCh38_POSITION=2:74534412;ESP6500_GS=21;ESP6500_GTC=6,423,6074;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_032603.2:c.1843A>T;ESP6500_HGVS_PROTEIN_VAR=NM_032603.2:p.(I615F);ESP6500_MAF=3.593,2.8597,3.3446;ESP6500_PH=probably-damaging:0.996;ESP6500_TAC=435,12571;CLINVAR_AF_ESP=0.0335;CLINVAR_AF_EXAC=0.08030;CLINVAR_AF_TGP=0.1300;CLINVAR_ALLELEID=250814;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.74534412T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):P58215#VAR_050011;CLINVAR_GENEINFO=LOXL3:84695;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17010021	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1860,0,1596
chr2	74562175	rs79405350	T	A	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.82;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=1.38;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79405350;dbSNPBuildID=132;ANN=A|downstream_gene_variant|MODIFIER|DOK1|DOK1|transcript|NM_001381.4|protein_coding||c.*5061T>A|||||4624|,A|downstream_gene_variant|MODIFIER|DOK1|DOK1|transcript|NM_001197260.1|protein_coding||c.*5061T>A|||||4624|,A|downstream_gene_variant|MODIFIER|DOK1|DOK1|transcript|NM_001318866.1|protein_coding||c.*5061T>A|||||4624|,A|downstream_gene_variant|MODIFIER|DOK1|DOK1|transcript|NM_001318867.1|protein_coding||c.*5061T>A|||||4624|,A|downstream_gene_variant|MODIFIER|DOK1|DOK1|transcript|NM_001318868.1|protein_coding||c.*5788T>A|||||4624|,A|downstream_gene_variant|MODIFIER|DOK1|DOK1|transcript|NM_001318869.1|protein_coding||c.*5061T>A|||||4624|,A|intron_variant|MODIFIER|M1AP|M1AP|transcript|NM_001321739.1|protein_coding|8/10|c.1281+42A>T||||||,A|intron_variant|MODIFIER|M1AP|M1AP|transcript|NM_138804.4|protein_coding|8/10|c.1281+42A>T||||||,A|intron_variant|MODIFIER|M1AP|M1AP|transcript|NM_001281296.1|protein_coding|8/9|c.1281+42A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=287;p3_1000G_AF=0.0573083;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=22231;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74789302;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=33,4373;ESP6500_AA_AGE=36.8+/-68.6;ESP6500_AA_GTC=0,33,2170;ESP6500_CDS_SIZES=NM_138804.3:1593;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=48;ESP6500_EA_AC=327,8273;ESP6500_EA_AGE=110.8+/-171.2;ESP6500_EA_GTC=5,317,3978;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138804.3:intron;ESP6500_GL=C2orf65;ESP6500_GRCh38_POSITION=2:74562175;ESP6500_GTC=5,350,6148;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_138804.3:c.1281+42A>T;ESP6500_MAF=3.8023,0.749,2.768;ESP6500_TAC=360,12646	GT:AD:DP:GQ:PL	0/1:6,4:10:99:136,0,143
chr2	74615292	rs535525025	A	C	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.293;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|M1AP|M1AP|transcript|NM_001321739.1|protein_coding|2/10|c.241-143T>G||||||,C|intron_variant|MODIFIER|M1AP|M1AP|transcript|NM_138804.4|protein_coding|2/10|c.241-143T>G||||||,C|intron_variant|MODIFIER|M1AP|M1AP|transcript|NM_001281296.1|protein_coding|2/9|c.241-143T>G||||||,C|intron_variant|MODIFIER|M1AP|M1AP|transcript|NM_001281295.1|protein_coding|2/6|c.241-143T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18628;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74842419;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:199,0,232
chr2	74674475	rs363608	C	T	301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.816;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=5.287;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.92;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs363608;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NM_004263.4|protein_coding|7/13|c.823-23C>T||||||,T|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NM_001271661.1|protein_coding|3/9|c.358-23C>T||||||,T|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NM_001271662.1|protein_coding|6/12|c.724-23C>T||||||,T|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NR_073398.1|pseudogene|5/11|n.726-23C>T||||||,T|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NR_073399.1|pseudogene|5/11|n.779-23C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2045;p3_1000G_AF=0.408347;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=19759;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.1431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74901602;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1805,2601;ESP6500_AA_GTC=373,1059,771;ESP6500_CDS_SIZES=NM_004263.3:2313;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=31;ESP6500_EA_AC=1152,7444;ESP6500_EA_GTC=72,1008,3218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004263.3:intron;ESP6500_GL=SEMA4F;ESP6500_GRCh38_POSITION=2:74674475;ESP6500_GTC=445,2067,3989;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004263.3:c.823-23C>T;ESP6500_MAF=13.4016,40.9669,22.7427;ESP6500_TAC=2957,10045	GT:AD:DP:GQ:PL	0/1:17,16:33:99:330,0,467
chr2	74675728	rs2075212	T	A	1157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.537;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.913;SOR=0.69;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075212;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NM_004263.4|protein_coding|11/13|c.1483-21T>A||||||,A|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NM_001271661.1|protein_coding|7/9|c.1018-21T>A||||||,A|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NM_001271662.1|protein_coding|10/12|c.1384-21T>A||||||,A|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NR_073398.1|pseudogene|9/11|n.1386-21T>A||||||,A|intron_variant|MODIFIER|SEMA4F|SEMA4F|transcript|NR_073399.1|pseudogene|9/11|n.1439-21T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=640;p3_1000G_AF=0.127796;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=20281;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.0577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74902855;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=108,4298;ESP6500_AA_AGE=84.8+/-123.5;ESP6500_AA_GTC=0,108,2095;ESP6500_CDS_SIZES=NM_004263.3:2313;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=88;ESP6500_EA_AC=414,8186;ESP6500_EA_AGE=129.0+/-187.1;ESP6500_EA_GTC=8,398,3894;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004263.3:intron;ESP6500_GL=SEMA4F;ESP6500_GRCh38_POSITION=2:74675728;ESP6500_GTC=8,506,5989;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004263.3:c.1483-21T>A;ESP6500_MAF=4.814,2.4512,4.0135;ESP6500_TAC=522,12484	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1186,0,1148
chr2	74675745	rs363609	A	G	1376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-1.009;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs363609;dbSNPBuildID=79;ANN=G|splice_region_variant&intron_variant|LOW|SEMA4F|SEMA4F|transcript|NM_004263.4|protein_coding|11/13|c.1483-4A>G||||||,G|splice_region_variant&intron_variant|LOW|SEMA4F|SEMA4F|transcript|NM_001271661.1|protein_coding|7/9|c.1018-4A>G||||||,G|splice_region_variant&intron_variant|LOW|SEMA4F|SEMA4F|transcript|NM_001271662.1|protein_coding|10/12|c.1384-4A>G||||||,G|splice_region_variant&intron_variant|LOW|SEMA4F|SEMA4F|transcript|NR_073398.1|pseudogene|9/11|n.1386-4A>G||||||,G|splice_region_variant&intron_variant|LOW|SEMA4F|SEMA4F|transcript|NR_073399.1|pseudogene|9/11|n.1439-4A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2658;p3_1000G_AF=0.530751;p3_1000G_AFR_AF=0.8517;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=20118;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.1471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=74902872;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3311,1095;ESP6500_AA_AGE=393.7+/-329.0;ESP6500_AA_GTC=1246,819,138;ESP6500_CDS_SIZES=NM_004263.3:2313;ESP6500_CG=-2.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=89;ESP6500_EA_AC=1210,7390;ESP6500_EA_AGE=763.4+/-407.6;ESP6500_EA_GTC=79,1052,3169;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004263.3:intron;ESP6500_GL=SEMA4F;ESP6500_GRCh38_POSITION=2:74675745;ESP6500_GTC=1325,1871,3307;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004263.3:c.1483-4A>G;ESP6500_MAF=14.0698,24.8525,34.7609;ESP6500_TAC=4521,8485	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1405,0,1141
chr2	74834746	rs663504	C	G	893.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=3.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs663504;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|1/17|c.63+103C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3799;p3_1000G_AF=0.758586;p3_1000G_AFR_AF=0.9357;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=13005;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75061873;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:922,75,0
chr2	74872254	rs3732300	T	C	419.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.659;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.053;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-1.187;SOR=0.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732300;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|3/17|c.376-46T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=918;p3_1000G_AF=0.183307;p3_1000G_AFR_AF=0.2269;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=21235;p3_1000G_EAS_AF=0.1607;p3_1000G_EUR_AF=0.1779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75099381;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=928,3478;ESP6500_AA_AGE=355.1+/-312.9;ESP6500_AA_GTC=94,740,1369;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=1621,6979;ESP6500_EA_AGE=300.1+/-304.8;ESP6500_EA_GTC=152,1317,2831;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:intron;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74872254;ESP6500_GTC=246,2057,4200;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.376-46T>C;ESP6500_MAF=18.8488,21.0622,19.5986;ESP6500_TAC=2549,10457	GT:AD:DP:GQ:PL	0/1:33,22:55:99:448,0,806
chr2	74872350	rs2229621	A	T	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.629;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.784;SOR=0.861;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229621;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|HK2|HK2|transcript|NM_000189.4|protein_coding|4/18|c.426A>T|p.Gln142His|2352/7093|426/2754|142/917||;p3_1000G_AA=A|||;p3_1000G_AC=899;p3_1000G_AF=0.179513;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=20281;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75099477;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=891,3515;ESP6500_AA_AGE=345.9+/-308.8;ESP6500_AA_GTC=88,715,1400;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=-8.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=143;ESP6500_EA_AC=1590,7010;ESP6500_EA_AGE=296.5+/-302.9;ESP6500_EA_GTC=147,1296,2857;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000189.4:missense;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74872350;ESP6500_GS=24;ESP6500_GTC=235,2011,4257;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.426A>T;ESP6500_HGVS_PROTEIN_VAR=NM_000189.4:p.(Q142H);ESP6500_MAF=18.4884,20.2224,19.0758;ESP6500_PH=possibly-damaging:0.677;ESP6500_TAC=2481,10525	GT:AD:DP:GQ:PL	0/1:24,24:48:99:581,0,652
chr2	74873746	rs112954107	A	AAGGAGG	484.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.583;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.08;ReadPosRankSum=-0.434;SOR=0.495;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112954107;dbSNPBuildID=132;ANN=AAGGAGG|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|5/17|c.592-80_592-75dupGAGGAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1190;p3_1000G_AF=0.23762;p3_1000G_AFR_AF=0.4319;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=18418;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.1769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75100873;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,13:23:99:522,0,616
chr2	74874327	rs2229622	T	C	1377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.71;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=6.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=0.127;SOR=1.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229622;dbSNPBuildID=98;ANN=C|synonymous_variant|LOW|HK2|HK2|transcript|NM_000189.4|protein_coding|7/18|c.753T>C|p.Asp251Asp|2679/7093|753/2754|251/917||;p3_1000G_AA=C|||;p3_1000G_AC=1581;p3_1000G_AF=0.315695;p3_1000G_AFR_AF=0.6112;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=17571;p3_1000G_EAS_AF=0.2817;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75101454;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2329,2077;ESP6500_AA_AGE=570.5+/-382.9;ESP6500_AA_GTC=627,1075,501;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=-2.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=60;ESP6500_EA_AC=1693,6907;ESP6500_EA_AGE=738.5+/-407.1;ESP6500_EA_GTC=155,1383,2762;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:coding-synonymous;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74874327;ESP6500_GTC=782,2458,3263;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.753T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000189.4:p.(D251);ESP6500_MAF=19.686,47.1403,30.9242;ESP6500_TAC=4022,8984	GT:AD:DP:GQ:PL	0/1:36,47:83:99:1406,0,846
chr2	74877091	rs10153634	A	G	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.135;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.144;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10153634;dbSNPBuildID=119;ANN=G|sequence_feature|LOW|HK2|HK2|helix:combinatorial_evidence_used_in_manual_assertion|NM_000189.4|protein_coding|7/17|c.876-75A>G||||||,G|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|7/17|c.876-75A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=913;p3_1000G_AF=0.182308;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=20571;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.166;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75104218;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:284,0,298
chr2	74877443	rs3771760	A	G	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.637;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.11;ReadPosRankSum=0;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771760;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|8/17|c.1031+122A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=867;p3_1000G_AF=0.173123;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=18919;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.168;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75104570;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:99:204,0,138
chr2	74878671	rs604112	A	G	2467.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs604112;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|8/17|c.1032-17A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4940;p3_1000G_AF=0.986422;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=18360;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75105798;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4380,10;ESP6500_AA_GTC=2185,10,0;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=23;ESP6500_EA_AC=8533,63;ESP6500_EA_GTC=4235,63,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:intron;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74878671;ESP6500_GTC=6420,73,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.1032-17A>G;ESP6500_MAF=0.7329,0.2278,0.5621;ESP6500_TAC=12913,73	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2496,216,0
chr2	74880240	rs1807090	T	G	823.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.906;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=1.989;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.442;SOR=0.419;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1807090;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|9/17|c.1266-25T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=620;p3_1000G_AF=0.123802;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=20947;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75107367;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=253,4151;ESP6500_AA_GTC=9,235,1958;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=199;ESP6500_EA_AC=1466,7132;ESP6500_EA_GTC=131,1204,2964;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:intron;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74880240;ESP6500_GTC=140,1439,4922;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.1266-25T>G;ESP6500_MAF=17.0505,5.7448,13.221;ESP6500_TAC=1719,11283	GT:AD:DP:GQ:PL	0/1:47,31:78:99:852,0,1284
chr2	74881617	rs2306805	A	G	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.361;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.191;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306805;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|10/17|c.1571-94A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=843;p3_1000G_AF=0.168331;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=22001;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75108744;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:197,0,127
chr2	74886445	rs2306806	G	A	1915.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2306806;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|14/17|c.2036-45G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2430;p3_1000G_AF=0.485224;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=21228;p3_1000G_EAS_AF=0.4454;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75113572;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1630,2776;ESP6500_AA_AGE=500.7+/-364.8;ESP6500_AA_GTC=325,980,898;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=107;ESP6500_EA_AC=5213,3387;ESP6500_EA_AGE=639.9+/-399.5;ESP6500_EA_GTC=1578,2057,665;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:intron;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74886445;ESP6500_GTC=1903,3037,1563;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.2036-45G>A;ESP6500_MAF=39.3837,36.995,47.3858;ESP6500_TAC=6843,6163	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1944,182,0
chr2	74886530	rs2229626	C	T	810.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.203;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.278;SOR=0.556;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229626;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|HK2|HK2|transcript|NM_000189.4|protein_coding|15/18|c.2076C>T|p.Asn692Asn|4002/7093|2076/2754|692/917||;p3_1000G_AA=T|||;p3_1000G_AC=2562;p3_1000G_AF=0.511581;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=19761;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75113657;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3023,1383;ESP6500_AA_AGE=455.5+/-351.0;ESP6500_AA_GTC=1038,947,218;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=-2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=111;ESP6500_EA_AC=3741,4859;ESP6500_EA_AGE=618.5+/-396.8;ESP6500_EA_GTC=821,2099,1380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:coding-synonymous;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74886530;ESP6500_GTC=1859,3046,1598;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.2076C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000189.4:p.(N692);ESP6500_MAF=43.5,31.389,47.9932;ESP6500_TAC=6764,6242	GT:AD:DP:GQ:PL	0/1:23,32:55:99:839,0,614
chr2	74886662	rs2229627	C	G	1151.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229627;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|HK2|HK2|transcript|NM_000189.4|protein_coding|15/18|c.2208C>G|p.Pro736Pro|4134/7093|2208/2754|736/917||;p3_1000G_AA=C|||;p3_1000G_AC=2592;p3_1000G_AF=0.517572;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=17288;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.6203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75113789;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1971,2435;ESP6500_AA_AGE=540.4+/-375.5;ESP6500_AA_GTC=453,1065,685;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=-11.0;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=66;ESP6500_EA_AC=5172,3428;ESP6500_EA_AGE=624.7+/-397.6;ESP6500_EA_GTC=1578,2016,706;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:coding-synonymous;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74886662;ESP6500_GTC=2031,3081,1391;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.2208C>G;ESP6500_HGVS_PROTEIN_VAR=NM_000189.4:p.(P736);ESP6500_MAF=39.8605,44.7345,45.0792;ESP6500_TAC=7143,5863	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1180,111,0
chr2	74886776	rs17741356	A	G	23.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.282;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.64;ReadPosRankSum=-1.15;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17741356;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|15/17|c.2219+103A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=851;p3_1000G_AF=0.169928;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=20560;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75113903;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:52:52,0,250
chr2	74887981	rs10194657	A	G	1905.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10194657;dbSNPBuildID=119;ANN=G|structural_interaction_variant|HIGH|HK2|HK2|interaction|2NZT:B_470-B_766:NM_000189.4|protein_coding|16/18|c.2298A>G||||||,G|synonymous_variant|LOW|HK2|HK2|transcript|NM_000189.4|protein_coding|16/18|c.2298A>G|p.Leu766Leu|4224/7093|2298/2754|766/917||;p3_1000G_AA=G|||;p3_1000G_AC=2625;p3_1000G_AF=0.524161;p3_1000G_AFR_AF=0.4236;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=23273;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.6282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75115108;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2030,2376;ESP6500_AA_AGE=612.6+/-392.0;ESP6500_AA_GTC=471,1088,644;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=142;ESP6500_EA_AC=5404,3196;ESP6500_EA_AGE=484.4+/-371.4;ESP6500_EA_GTC=1686,2032,582;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:coding-synonymous;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74887981;ESP6500_GTC=2157,3120,1226;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.2298A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000189.4:p.(L766);ESP6500_MAF=37.1628,46.0735,42.8418;ESP6500_TAC=7434,5572	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1934,183,0
chr2	74889500	rs4853069	C	T	1758.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.55;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4853069;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|HK2|HK2|transcript|NM_000189.4|protein_coding|17/17|c.2609+22C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3377;p3_1000G_AF=0.674321;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=19241;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.5736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75116627;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3778,628;ESP6500_AA_GTC=1614,550,39;ESP6500_CDS_SIZES=NM_000189.4:2754;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=60;ESP6500_EA_AC=4805,3795;ESP6500_EA_GTC=1332,2141,827;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000189.4:intron;ESP6500_GL=HK2;ESP6500_GRCh38_POSITION=2:74889500;ESP6500_GTC=2946,2691,866;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000189.4:c.2609+22C>T;ESP6500_MAF=44.1279,14.2533,34.0074;ESP6500_TAC=8583,4423	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1787,150,0
chr2	74958729	rs12366	G	T	849.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.3;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12366;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|POLE4|POLE4|transcript|NM_019896.2|protein_coding|1/4|c.50G>T|p.Gly17Val|82/696|50/354|17/117||;p3_1000G_AA=G|||;p3_1000G_AC=1711;p3_1000G_AF=0.341653;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=9775;p3_1000G_EAS_AF=0.4206;p3_1000G_EUR_AF=0.3917;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75185856;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2607;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1078,2746;ESP6500_AA_GTC=168,742,1002;ESP6500_CDS_SIZES=NM_019896.2:354;ESP6500_CG=3.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=7;ESP6500_EA_AC=2577,4845;ESP6500_EA_GTC=504,1569,1638;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019896.2:missense;ESP6500_GL=POLE4;ESP6500_GRCh38_POSITION=2:74958729;ESP6500_GS=109;ESP6500_GTC=672,2311,2640;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_019896.2:c.50G>T;ESP6500_HGVS_PROTEIN_VAR=NM_019896.2:p.(G17V);ESP6500_MAF=34.7211,28.1904,32.5004;ESP6500_PH=possibly-damaging:0.468;ESP6500_TAC=3655,7591	GT:AD:DP:GQ:PL	1/1:0,29:29:86:878,86,0
chr2	75198497	rs2024512	G	A	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.257;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.076;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.97;SOR=2.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2024512;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|TACR1|TACR1|transcript|NM_001058.3|protein_coding|1/4|c.389+49C>T||||||,A|intron_variant|MODIFIER|TACR1|TACR1|transcript|NM_015727.2|protein_coding|1/3|c.389+49C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2709;p3_1000G_AF=0.540935;p3_1000G_AFR_AF=0.8502;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=19827;p3_1000G_EAS_AF=0.3869;p3_1000G_EUR_AF=0.4483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75425623;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3460,946;ESP6500_AA_AGE=693.6+/-405.7;ESP6500_AA_GTC=1366,728,109;ESP6500_CDS_SIZES=NM_015727.2:936,NM_001058.3:1224;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=40;ESP6500_EA_AC=4005,4595;ESP6500_EA_AGE=537.4+/-383.2;ESP6500_EA_GTC=958,2089,1253;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015727.2:intron,NM_001058.3:intron;ESP6500_GL=TACR1;ESP6500_GRCh38_POSITION=2:75198497;ESP6500_GTC=2324,2817,1362;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015727.2:c.389+49C>T,NM_001058.3:c.389+49C>T;ESP6500_MAF=46.5698,21.4707,42.6034;ESP6500_TAC=7465,5541	GT:AD:DP:GQ:PL	0/1:11,11:22:99:271,0,327
chr2	75198602	rs6715729	A	G	1271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.62;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=2.011;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.868;SOR=1.024;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6715729;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|TACR1|TACR1|transcript|NM_001058.3|protein_coding|1/5|c.333T>C|p.Phe111Phe|918/4778|333/1224|111/407||,G|synonymous_variant|LOW|TACR1|TACR1|transcript|NM_015727.2|protein_coding|1/4|c.333T>C|p.Phe111Phe|918/1732|333/936|111/311||;p3_1000G_AA=G|||;p3_1000G_AC=2830;p3_1000G_AF=0.565096;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=21192;p3_1000G_EAS_AF=0.3869;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75425728;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3695,711;ESP6500_AA_AGE=291.0+/-281.2;ESP6500_AA_GTC=1551,593,59;ESP6500_CDS_SIZES=NM_015727.2:936,NM_001058.3:1224;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=149;ESP6500_EA_AC=4113,4487;ESP6500_EA_AGE=586.5+/-392.1;ESP6500_EA_GTC=1001,2111,1188;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015727.2:coding-synonymous,NM_001058.3:coding-synonymous;ESP6500_GL=TACR1;ESP6500_GRCh38_POSITION=2:75198602;ESP6500_GTC=2552,2704,1247;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015727.2:c.333T>C,NM_001058.3:c.333T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015727.2:p.(F111),NM_001058.3:p.(F111);ESP6500_MAF=47.8256,16.1371,39.9662;ESP6500_TAC=7808,5198	GT:AD:DP:GQ:PL	0/1:31,43:74:99:1300,0,810
chr2	75647264	rs2286239	G	C	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.695;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.642;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2286239;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MRPL19|MRPL19|transcript|NM_014763.3|protein_coding|2/5|c.221+45G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=940;p3_1000G_AF=0.1877;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=12596;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.2614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75874390;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=234,3542;ESP6500_AA_GTC=5,224,1659;ESP6500_CDS_SIZES=NM_014763.3:879;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=12;ESP6500_EA_AC=2003,6115;ESP6500_EA_GTC=228,1547,2284;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014763.3:intron;ESP6500_GL=MRPL19;ESP6500_GRCh38_POSITION=2:75647264;ESP6500_GTC=233,1771,3943;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014763.3:c.221+45G>C;ESP6500_MAF=24.6736,6.197,18.8078;ESP6500_TAC=2237,9657	GT:AD:DP:GQ:PL	0/1:6,13:19:99:301,0,128
chr2	75652326	rs4853168	G	C	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4853168;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|MRPL19|MRPL19|transcript|NM_014763.3|protein_coding|3/5|c.340+66G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=996;p3_1000G_AF=0.198882;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=15907;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75879452;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:62:62,0,77
chr2	75654702	rs6759555	T	C	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.353;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.349;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6759555;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MRPL19|MRPL19|transcript|NM_014763.3|protein_coding|4/5|c.476-34T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2569;p3_1000G_AF=0.512979;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=18037;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75881828;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2667,993;ESP6500_AA_GTC=978,711,141;ESP6500_CDS_SIZES=NM_014763.3:879;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=67;ESP6500_EA_AC=3301,4871;ESP6500_EA_GTC=669,1963,1454;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014763.3:intron;ESP6500_GL=MRPL19;ESP6500_GRCh38_POSITION=2:75654702;ESP6500_GTC=1647,2674,1595;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014763.3:c.476-34T>C;ESP6500_MAF=40.394,27.1311,49.5605;ESP6500_TAC=5968,5864	GT:AD:DP:GQ:PL	0/1:6,6:12:99:147,0,164
chr2	75655030	rs540034852	CT	C	34.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=8.5;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11324562;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|MRPL19|MRPL19|transcript|NM_014763.3|protein_coding|5/5|c.658-13delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2189;p3_1000G_AF=0.437101;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=16636;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.3449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75882156;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:71,12,0
chr2	75655273	rs17689863	G	A	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.462;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.94;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17689863;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|MRPL19|MRPL19|transcript|NM_014763.3|protein_coding|6/6|c.867G>A|p.Ser289Ser|892/7827|867/879|289/292||;p3_1000G_AA=G|||;p3_1000G_AC=883;p3_1000G_AF=0.176318;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=16035;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75882399;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=175,3491;ESP6500_AA_GTC=3,169,1661;ESP6500_CDS_SIZES=NM_014763.3:879;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=62;ESP6500_EA_AC=2084,6072;ESP6500_EA_GTC=263,1558,2257;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014763.3:coding-synonymous;ESP6500_GL=MRPL19;ESP6500_GRCh38_POSITION=2:75655273;ESP6500_GTC=266,1727,3918;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014763.3:c.867G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014763.3:p.(S289);ESP6500_MAF=25.5517,4.7736,19.1084;ESP6500_TAC=2259,9563	GT:AD:DP:GQ:PL	0/1:13,15:28:99:374,0,327
chr2	75655450	rs11847	T	C	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.46;ReadPosRankSum=0.842;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11847;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|MRPL19|MRPL19|transcript|NM_014763.3|protein_coding|6/6|c.*165T>C|||||165|;p3_1000G_AA=T|||;p3_1000G_AC=2569;p3_1000G_AF=0.512979;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=17002;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75882576;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:31:151,0,31
chr2	75673574	rs5832172	C	CA	55.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.366;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5832172,rs5832173;dbSNPBuildID=126;ANN=CA|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|12/16|c.1813-55dupT||||||,CA|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|12/16|c.1306-55dupT||||||;p3_1000G_AA=?|AAAAAAAAA|AAAAAAAAAA|unsure;p3_1000G_AC=972;p3_1000G_AF=0.194089;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=16402;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75900700;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,4:7:65:93,0,65
chr2	75679846	rs4853169	G	A	183.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.763;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.86;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4853169;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|12/16|c.1812+347C>T||||||,A|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|12/16|c.1305+347C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=886;p3_1000G_AF=0.176917;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=16736;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75906972;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:212,0,217
chr2	75687909	rs1803196	C	T	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.655;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.366;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.56;ReadPosRankSum=0.216;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1803196;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|11/17|c.1608G>A|p.Val536Val|1738/4436|1608/2346|536/781||,T|synonymous_variant|LOW|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|11/17|c.1101G>A|p.Val367Val|1506/4204|1101/1839|367/612||;p3_1000G_AA=T|||;p3_1000G_AC=2566;p3_1000G_AF=0.51238;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=15519;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.3907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75915035;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3210,1196;ESP6500_AA_AGE=418.5+/-338.3;ESP6500_AA_GTC=1181,848,174;ESP6500_CDS_SIZES=NM_003203.4:2346,NM_001201334.1:1839;ESP6500_CG=0.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=74;ESP6500_EA_AC=3449,5149;ESP6500_EA_AGE=633.7+/-398.8;ESP6500_EA_GTC=693,2063,1543;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003203.4:coding-synonymous,NM_001201334.1:coding-synonymous;ESP6500_GL=GCFC2;ESP6500_GRCh38_POSITION=2:75687909;ESP6500_GTC=1874,2911,1717;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003203.4:c.1608G>A,NM_001201334.1:c.1101G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003203.4:p.(V536),NM_001201334.1:p.(V367);ESP6500_MAF=40.114,27.1448,48.7927;ESP6500_TAC=6659,6345	GT:AD:DP:GQ:PL	0/1:27,12:39:99:206,0,663
chr2	75692146	rs142689014	AATAT	A	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs142689014;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|6/16|c.1021-50_1021-47delATAT||||||,A|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|6/16|c.514-50_514-47delATAT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:75692146_AATAT_A:180,12,0
chr2	75692166	rs182810843	T	C	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.3;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs182810843;dbSNPBuildID=135;ANN=C|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|6/16|c.1021-66A>G||||||,C|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|6/16|c.514-66A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1200;p3_1000G_AF=0.239617;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=8081;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.3072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75919292;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:75692146_AATAT_A:180,12,0
chr2	75692168	rs116783069	T	C	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.48;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs116783069;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|6/16|c.1021-68A>G||||||,C|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|6/16|c.514-68A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2796;p3_1000G_AF=0.558307;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=8260;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.4632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75919294;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:75692146_AATAT_A:180,12,0
chr2	75692170	rs111967112	T	C	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs111967112;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|6/16|c.1021-70A>G||||||,C|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|6/16|c.514-70A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2853;p3_1000G_AF=0.569688;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=8559;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.4632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75919296;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:75692146_AATAT_A:180,12,0
chr2	75696287	rs7560262	T	C	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.386;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.32;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7560262;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|5/17|c.746A>G|p.Asn249Ser|876/4436|746/2346|249/781||,C|missense_variant|MODERATE|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|5/17|c.239A>G|p.Asn80Ser|644/4204|239/1839|80/612||;p3_1000G_AA=C|||;p3_1000G_AC=2771;p3_1000G_AF=0.553315;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=14327;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.4742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75923413;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3234,1138;ESP6500_AA_GTC=1209,816,161;ESP6500_CDS_SIZES=NM_003203.4:2346,NM_001201334.1:1839;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=4041,4509;ESP6500_EA_GTC=960,2121,1194;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003203.4:missense,NM_001201334.1:missense;ESP6500_GL=GCFC2;ESP6500_GRCh38_POSITION=2:75696287;ESP6500_GS=46,46;ESP6500_GTC=2169,2937,1355;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003203.4:c.746A>G,NM_001201334.1:c.239A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003203.4:p.(N249S),NM_001201334.1:p.(N80S);ESP6500_MAF=47.2632,26.0293,43.7007;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7275,5647	GT:AD:DP:GQ:PL	0/1:7,10:17:99:266,0,169
chr2	75701174	rs6547019	G	T	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.331;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.381;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6547019;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201335.1|protein_coding||c.*996C>A|||||609|,T|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|4/16|c.717+16C>A||||||,T|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|4/16|c.210+16C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2558;p3_1000G_AF=0.510783;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=19281;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.3907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75928300;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3192,1214;ESP6500_AA_AGE=418.0+/-338.2;ESP6500_AA_GTC=1168,856,179;ESP6500_CDS_SIZES=NM_003203.4:2346,NM_001201334.1:1839;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=136;ESP6500_EA_AC=3453,5145;ESP6500_EA_AGE=633.6+/-398.8;ESP6500_EA_GTC=695,2063,1541;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003203.4:intron,NM_001201334.1:intron;ESP6500_GL=GCFC2;ESP6500_GRCh38_POSITION=2:75701174;ESP6500_GTC=1863,2919,1720;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003203.4:c.717+16C>A,NM_001201334.1:c.210+16C>A;ESP6500_MAF=40.1605,27.5533,48.9003;ESP6500_TAC=6645,6359	GT:AD:DP:GQ:PL	0/1:9,12:21:99:304,0,249
chr2	75706704	rs6728499	T	A	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.091;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=-0.864;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6728499;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_003203.4|protein_coding|1/16|c.266-53A>T||||||,A|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201334.1|protein_coding|1/16|c.-242-53A>T||||||,A|intron_variant|MODIFIER|GCFC2|GCFC2|transcript|NM_001201335.1|protein_coding|1/2|c.266-53A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2551;p3_1000G_AF=0.509385;p3_1000G_AFR_AF=0.7905;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=16540;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.3907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=75933830;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:114,0,302
chr2	79027135	rs452267	T	C	3771.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=1.295;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs452267;dbSNPBuildID=80;ANN=C|synonymous_variant|LOW|REG3G|REG3G|transcript|NM_001008387.2|protein_coding|4/6|c.297T>C|p.Tyr99Tyr|496/955|297/528|99/175||,C|synonymous_variant|LOW|REG3G|REG3G|transcript|NM_198448.3|protein_coding|4/6|c.297T>C|p.Tyr99Tyr|396/855|297/528|99/175||,C|intron_variant|MODIFIER|REG3G|REG3G|transcript|NM_001270040.1|protein_coding|3/4|c.195+304T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4305;p3_1000G_AF=0.859625;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DP=17558;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.8042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79254261;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3665,741;ESP6500_AA_AGE=303.2+/-287.8;ESP6500_AA_GTC=1524,617,62;ESP6500_CDS_SIZES=NM_198448.3:528,NM_001270040.1:390,NM_001008387.2:528;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=139;ESP6500_EA_AC=6990,1610;ESP6500_EA_AGE=299.1+/-304.3;ESP6500_EA_GTC=2833,1324,143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198448.3:coding-synonymous,NM_001270040.1:intron,NM_001008387.2:coding-synonymous;ESP6500_GL=REG3G;ESP6500_GRCh38_POSITION=2:79027135;ESP6500_GTC=4357,1941,205;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198448.3:c.297T>C,NM_001270040.1:c.195+304T>C,NM_001008387.2:c.297T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198448.3:p.(Y99),.,NM_001008387.2:p.(Y99);ESP6500_MAF=18.7209,16.818,18.0763;ESP6500_TAC=10655,2351	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3800,333,0
chr2	79028199	rs2290079	G	C	1229.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.24;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290079;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|REG3G|REG3G|transcript|NM_001008387.2|protein_coding|5/5|c.461-10G>C||||||,C|intron_variant|MODIFIER|REG3G|REG3G|transcript|NM_001270040.1|protein_coding|4/4|c.323-10G>C||||||,C|intron_variant|MODIFIER|REG3G|REG3G|transcript|NM_198448.3|protein_coding|5/5|c.461-10G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1962;p3_1000G_AF=0.391773;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=18621;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.4672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79255325;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1455,2951;ESP6500_AA_AGE=470.7+/-355.8;ESP6500_AA_GTC=232,991,980;ESP6500_CDS_SIZES=NM_198448.3:528,NM_001270040.1:390,NM_001008387.2:528;ESP6500_CG=-1.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=3949,4651;ESP6500_EA_AGE=548.4+/-385.4;ESP6500_EA_GTC=895,2159,1246;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198448.3:intron,NM_001270040.1:intron,NM_001008387.2:intron;ESP6500_GL=REG3G;ESP6500_GRCh38_POSITION=2:79028199;ESP6500_GTC=1127,3150,2226;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_198448.3:c.461-10G>C,NM_001270040.1:c.323-10G>C,NM_001008387.2:c.461-10G>C;ESP6500_MAF=45.9186,33.0232,41.5501;ESP6500_TAC=5404,7602	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1258,111,0
chr2	79028300	rs383969	G	C	869.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs383969;dbSNPBuildID=80;ANN=C|3_prime_UTR_variant|MODIFIER|REG3G|REG3G|transcript|NM_001008387.2|protein_coding|6/6|c.*24G>C|||||24|,C|3_prime_UTR_variant|MODIFIER|REG3G|REG3G|transcript|NM_001270040.1|protein_coding|5/5|c.*24G>C|||||24|,C|3_prime_UTR_variant|MODIFIER|REG3G|REG3G|transcript|NM_198448.3|protein_coding|6/6|c.*24G>C|||||24|;p3_1000G_AA=G|||;p3_1000G_AC=4321;p3_1000G_AF=0.862819;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=17499;p3_1000G_EAS_AF=0.9087;p3_1000G_EUR_AF=0.8042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79255426;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3760,646;ESP6500_AA_AGE=766.4+/-413.4;ESP6500_AA_GTC=1609,542,52;ESP6500_CDS_SIZES=NM_198448.3:528,NM_001270040.1:390,NM_001008387.2:528;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=69;ESP6500_EA_AC=6990,1610;ESP6500_EA_AGE=743.0+/-407.2;ESP6500_EA_GTC=2833,1324,143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198448.3:utr-3,NM_001270040.1:utr-3,NM_001008387.2:utr-3;ESP6500_GL=REG3G;ESP6500_GRCh38_POSITION=2:79028300;ESP6500_GTC=4442,1866,195;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_198448.3:c.*24G>C,NM_001270040.1:c.*24G>C,NM_001008387.2:c.*24G>C;ESP6500_MAF=18.7209,14.6618,17.3458;ESP6500_TAC=10750,2256	GT:AD:DP:GQ:PL	1/1:0,25:25:75:898,75,0
chr2	79085288	rs3739144	G	A	296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.254;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.471;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739144;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|REG1B|REG1B|transcript|NM_006507.3|protein_coding|5/5|c.434-5C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3198;p3_1000G_AF=0.638578;p3_1000G_AFR_AF=0.5477;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=19304;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.7117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79312414;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2598,1808;ESP6500_AA_GTC=762,1074,367;ESP6500_CDS_SIZES=NM_006507.3:501;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=67;ESP6500_EA_AC=6171,2429;ESP6500_EA_GTC=2198,1775,327;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006507.3:intron;ESP6500_GL=REG1B;ESP6500_GRCh38_POSITION=2:79085288;ESP6500_GTC=2960,2849,694;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006507.3:c.434-5C>T;ESP6500_MAF=28.2442,41.035,32.5773;ESP6500_TAC=8769,4237	GT:AD:DP:GQ:PL	0/1:21,12:33:99:325,0,581
chr2	79086968	rs6723688	G	T	167.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.58;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6723688;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|REG1B|REG1B|transcript|NM_006507.3|protein_coding|2/5|c.65-38C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3340;p3_1000G_AF=0.666933;p3_1000G_AFR_AF=0.6067;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=17714;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.7247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79314094;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2829,1577;ESP6500_AA_GTC=894,1041,268;ESP6500_CDS_SIZES=NM_006507.3:501;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=46;ESP6500_EA_AC=6289,2311;ESP6500_EA_GTC=2290,1709,301;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006507.3:intron;ESP6500_GL=REG1B;ESP6500_GRCh38_POSITION=2:79086968;ESP6500_GTC=3184,2750,569;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_006507.3:c.65-38C>A;ESP6500_MAF=26.8721,35.7921,29.8939;ESP6500_TAC=9118,3888	GT:AD:DP:GQ:PL	1/1:0,5:5:15:196,15,0
chr2	79087750	rs2073444	C	A	456.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2073444;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|REG1B|REG1B|transcript|NM_006507.3|protein_coding|1/5|c.-46-92G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3283;p3_1000G_AF=0.655551;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=19885;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79314876;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:485,39,0
chr2	79121003	rs11339710;rs397985089;rs530786054;rs566778592	GA	G	143.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.54;SOR=4.174;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11339710;dbSNPBuildID=132,142,142,138;ANN=G|intron_variant|MODIFIER|REG1A|REG1A|transcript|NM_002909.4|protein_coding|2/5|c.64+93delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,7:7:21:181,21,0
chr2	79122246	rs283891	C	G	247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.52;ReadPosRankSum=0.301;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs283891;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|REG1A|REG1A|transcript|NM_002909.4|protein_coding|4/5|c.321+121C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1660;p3_1000G_AF=0.33147;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=21125;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79349372;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:60:276,0,60
chr2	79123060	rs3739142	G	A	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.841;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.39;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739142;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|REG1A|REG1A|transcript|NM_002909.4|protein_coding|5/5|c.434-88G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1640;p3_1000G_AF=0.327476;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=20304;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.3887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79350186;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,13:28:99:335,0,410
chr2	79123221	rs12228	A	G	1008.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12228;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|REG1A|REG1A|transcript|NM_002909.4|protein_coding|6/6|c.*6A>G|||||6|;p3_1000G_AA=G|||;p3_1000G_AC=4941;p3_1000G_AF=0.986621;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=18702;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9563;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79350347;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4378,28;ESP6500_AA_GTC=2175,28,0;ESP6500_CDS_SIZES=NM_002909.4:501;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=70;ESP6500_EA_AC=8223,377;ESP6500_EA_GTC=3933,357,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002909.4:utr-3;ESP6500_GL=REG1A;ESP6500_GRCh38_POSITION=2:79123221;ESP6500_GTC=6108,385,10;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002909.4:c.*6A>G;ESP6500_MAF=4.3837,0.6355,3.1139;ESP6500_TAC=12601,405	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1037,102,0
chr2	79523156	rs72921161	A	G	12.05	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72921161;dbSNPBuildID=130;ANN=G|upstream_gene_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001282598.1|protein_coding||c.-57A>G|||||27|,G|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001282597.2|protein_coding|1/18|c.-6+9949A>G||||||,G|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001164883.1|protein_coding|1/16|c.-6+9949A>G||||||,G|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_004389.3|protein_coding|1/17|c.-6+9949A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1173;p3_1000G_AF=0.234225;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=13723;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=79750282;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:28:40,0,28
chr2	79874195	rs61291641	T	G	1137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=6.006;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.148;SOR=0.451;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61291641;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|CTNNA2|CTNNA2|transcript|NM_001282597.2|protein_coding|6/19|c.705T>G|p.Ala235Ala|984/4132|705/2862|235/953||,G|synonymous_variant|LOW|CTNNA2|CTNNA2|transcript|NM_001164883.1|protein_coding|6/17|c.705T>G|p.Ala235Ala|984/3853|705/2583|235/860||,G|synonymous_variant|LOW|CTNNA2|CTNNA2|transcript|NM_004389.3|protein_coding|6/18|c.705T>G|p.Ala235Ala|984/3988|705/2718|235/905||,G|synonymous_variant|LOW|CTNNA2|CTNNA2|transcript|NM_001282598.1|protein_coding|6/18|c.807T>G|p.Ala269Ala|837/3841|807/2820|269/939||;p3_1000G_AA=T|||;p3_1000G_AC=1403;p3_1000G_AF=0.280152;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=16571;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.0835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=80101321;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=910,3242;ESP6500_AA_GTC=101,708,1267;ESP6500_CDS_SIZES=NM_004389.3:2718,NM_001164883.1:2583;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=53;ESP6500_EA_AC=644,7798;ESP6500_EA_GTC=38,568,3615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004389.3:coding-synonymous,NM_001164883.1:coding-synonymous;ESP6500_GL=CTNNA2;ESP6500_GRCh38_POSITION=2:79874195;ESP6500_GTC=139,1276,4882;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004389.3:c.705T>G,NM_001164883.1:c.705T>G;ESP6500_HGVS_PROTEIN_VAR=NM_004389.3:p.(A235),NM_001164883.1:p.(A235);ESP6500_MAF=7.6285,21.9171,12.3392;ESP6500_TAC=1554,11040	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1166,0,876
chr2	79874385	rs76283151	T	C	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.12;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=1.54;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76283151;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001282597.2|protein_coding|6/18|c.852+43T>C||||||,C|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001164883.1|protein_coding|6/16|c.852+43T>C||||||,C|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_004389.3|protein_coding|6/17|c.852+43T>C||||||,C|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001282598.1|protein_coding|6/17|c.954+43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=770;p3_1000G_AF=0.153754;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=15033;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.0258;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=80101511;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=284,3534;ESP6500_AA_GTC=10,264,1635;ESP6500_CDS_SIZES=NM_004389.3:2718,NM_001164883.1:2583;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=26;ESP6500_EA_AC=186,8024;ESP6500_EA_GTC=2,182,3921;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004389.3:intron,NM_001164883.1:intron;ESP6500_GL=CTNNA2;ESP6500_GRCh38_POSITION=2:79874385;ESP6500_GTC=12,446,5556;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004389.3:c.852+43T>C,NM_001164883.1:c.852+43T>C;ESP6500_MAF=2.2655,7.4384,3.9075;ESP6500_TAC=470,11558	GT:AD:DP:GQ:PL	0/1:13,12:25:99:405,0,429
chr2	80545847	rs2276659	G	A	497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276659;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001282597.2|protein_coding|10/18|c.1384-60G>A||||||,A|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001164883.1|protein_coding|10/16|c.1384-60G>A||||||,A|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_004389.3|protein_coding|10/17|c.1384-60G>A||||||,A|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001282598.1|protein_coding|10/17|c.1486-60G>A||||||,A|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001282600.1|protein_coding|4/11|c.280-60G>A||||||,A|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001320810.1|protein_coding|4/12|c.280-60G>A||||||,A|intron_variant|MODIFIER|CTNNA2|CTNNA2|transcript|NM_001282599.1|protein_coding|4/11|c.421-60G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2489;p3_1000G_AF=0.497005;p3_1000G_AFR_AF=0.5446;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=20415;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.4354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=80772972;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:526,48,0
chr2	84423583	rs2832;337149	A	G	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.409;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=5.119;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=-1.744;SOR=0.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2832;dbSNPBuildID=36;ANN=G|3_prime_UTR_variant|MODIFIER|SUCLG1|SUCLG1|transcript|NM_003849.3|protein_coding|9/9|c.*163T>C|||||163|;p3_1000G_AA=A|||;p3_1000G_AC=4017;p3_1000G_AF=0.802117;p3_1000G_AFR_AF=0.4667;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=18229;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.9374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84650707;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP;CLINVAR_ALLELEID=290971;CLINVAR_CLNDISDB=MedGen:C0342782,Orphanet:ORPHA35698|MedGen:C3151476,OMIM:245400,Orphanet:ORPHA17;CLINVAR_CLNDN=Mitochondrial_DNA_depletion_syndrome|Mitochondrial_DNA_depletion_syndrome_9_(encephalomyopathic_with_methylmalonic_aciduria);CLINVAR_CLNHGVS=NC_000002.12:g.84423583A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25347;CLINVAR_GENEINFO=SUCLG1:8802;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2832	GT:AD:DP:GQ:PL	0/1:9,4:13:82:82,0,274
chr2	84441134	rs34359115;rs367999572;~rs34359115	TA	T	489.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.544;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.275;SOR=0.871;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34359115,rs367999572;dbSNPBuildID=138,126;ANN=T|intron_variant|MODIFIER|SUCLG1|SUCLG1|transcript|NM_003849.3|protein_coding|4/8|c.532-31delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=173;p3_1000G_AF=0.0345447;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=21166;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84668258;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=INDEL;ESP6500_AA_AC=11,297,3958;ESP6500_AA_GTC=0,0,11,7,283,1832;ESP6500_CDS_SIZES=NM_003849.3:1041,NM_003849.3:1041;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=57;ESP6500_EA_AC=9,212,8033;ESP6500_EA_GTC=0,0,9,0,212,3906;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003849.3:intron,NM_003849.3:intron;ESP6500_GL=SUCLG1;ESP6500_GRCh38_POSITION=2:84441134;ESP6500_GTC=0,0,20,7,495,5738;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_003849.3:c.532-31del1,NM_003849.3:c.532-31_532-30insT;ESP6500_MAF=2.6775,7.2199,4.2252;ESP6500_TAC=20,509,11991	GT:AD:DP:GQ:PL	0/1:19,23:42:99:527,0,432
chr2	84441196	rs80272300	T	A	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.591;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.397;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80272300;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|SUCLG1|SUCLG1|transcript|NM_003849.3|protein_coding|4/8|c.531+51A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=142;p3_1000G_AF=0.0283546;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=20244;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84668320;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=189,4217;ESP6500_AA_AGE=118.8+/-156.5;ESP6500_AA_GTC=5,179,2019;ESP6500_CDS_SIZES=NM_003849.3:1041;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=46;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003849.3:intron;ESP6500_GL=SUCLG1;ESP6500_GRCh38_POSITION=2:84441196;ESP6500_GTC=5,181,6317;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_003849.3:c.531+51A>T;ESP6500_MAF=0.0233,4.2896,1.4686;ESP6500_TAC=191,12815	GT:AD:DP:GQ:PL	0/1:17,15:32:99:412,0,503
chr2	84449762	rs760164187;403502	TAAAAA	T	54.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.35;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|sequence_feature|LOW|SUCLG1|SUCLG1|antibody-mapping:heterologous_protein_expression_evidence|NM_003849.3|protein_coding|1/8|c.98-15_98-11delTTTTT||||||,T|intron_variant|MODIFIER|SUCLG1|SUCLG1|transcript|NM_003849.3|protein_coding|1/8|c.98-15_98-11delTTTTT||||||;CLINVAR_ALLELEID=389520;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.84449763_84449767delAAAAA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=SUCLG1:8802;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=760164187	GT:AD:DP:GQ:PL	1/1:0,2:2:6:91,6,0
chr2	84459057	rs111718812	C	T	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111718812;dbSNPBuildID=132;ANN=T|sequence_feature|LOW|SUCLG1|SUCLG1|antibody-mapping:heterologous_protein_expression_evidence|NM_003849.3|protein_coding|1/8|c.97+116G>A||||||,T|intron_variant|MODIFIER|SUCLG1|SUCLG1|transcript|NM_003849.3|protein_coding|1/8|c.97+116G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=424;p3_1000G_AF=0.0846645;p3_1000G_AFR_AF=0.1906;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=12120;p3_1000G_EAS_AF=0.0724;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84686181;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:62:62,0,113
chr2	84459402	rs12621740;337168	G	A	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.337;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.606;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12621740;dbSNPBuildID=120;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|SUCLG1|SUCLG1|transcript|NM_003849.3|protein_coding|1/9|c.-133C>T||||||,A|5_prime_UTR_variant|MODIFIER|SUCLG1|SUCLG1|transcript|NM_003849.3|protein_coding|1/9|c.-133C>T|||||133|;p3_1000G_AA=G|||;p3_1000G_AC=132;p3_1000G_AF=0.0263578;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=17917;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84686526;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.0264;CLINVAR_ALLELEID=287329;CLINVAR_CLNDISDB=MedGen:C0342782,Orphanet:ORPHA35698|MedGen:C3151476,OMIM:245400,Orphanet:ORPHA17;CLINVAR_CLNDN=Mitochondrial_DNA_depletion_syndrome|Mitochondrial_DNA_depletion_syndrome_9_(encephalomyopathic_with_methylmalonic_aciduria);CLINVAR_CLNHGVS=NC_000002.12:g.84459402G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:102247;CLINVAR_GENEINFO=SUCLG1:8802;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12621740	GT:AD:DP:GQ:PL	0/1:11,11:22:99:313,0,352
chr2	84528872	rs67469465	A	AT	454.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.93;SOR=2.948;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35980296,rs67469465;dbSNPBuildID=137;ANN=AT|intron_variant|MODIFIER|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|3/76|c.400-21dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3395;p3_1000G_AF=0.677915;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=19385;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84755996;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,19:19:57:492,57,0
chr2	84528925	rs4832089;402731	G	A	1007.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832089;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|4/77|c.421G>A|p.Val141Met|558/12795|421/12477|141/4158||;p3_1000G_AA=G|||;p3_1000G_AC=4731;p3_1000G_AF=0.944688;p3_1000G_AFR_AF=0.8865;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=16302;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84756049;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1207,177;ESP6500_AA_GTC=527,153,12;ESP6500_CDS_SIZES=NM_001370.1:12477;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=101;ESP6500_EA_AC=3010,172;ESP6500_EA_GTC=1422,166,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001370.1:missense;ESP6500_GL=DNAH6;ESP6500_GRCh38_POSITION=2:84528925;ESP6500_GS=21;ESP6500_GTC=1949,319,15;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001370.1:c.421G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001370.1:p.(V141M);ESP6500_MAF=5.4054,12.789,7.6435;ESP6500_PH=benign:0.001;ESP6500_TAC=4217,349;CLINVAR_ALLELEID=389523;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.84528925G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH6:1768;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4832089	GT:AD:DP:GQ:PL	1/1:0,32:32:95:1036,95,0
chr2	84529217	rs4832090	T	G	345.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832090;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|4/76|c.662+51T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4880;p3_1000G_AF=0.974441;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=15224;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84756341;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:374,33,0
chr2	84544356	rs1037863;402732	G	A	908.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.73;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1037863;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|5/77|c.786G>A|p.Leu262Leu|923/12795|786/12477|262/4158||;p3_1000G_AA=A|||;p3_1000G_AC=4655;p3_1000G_AF=0.929513;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=13617;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84771480;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1152,232;ESP6500_AA_GTC=477,198,17;ESP6500_CDS_SIZES=NM_001370.1:12477;ESP6500_CG=-10.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=3007,173;ESP6500_EA_GTC=1420,167,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001370.1:coding-synonymous;ESP6500_GL=DNAH6;ESP6500_GRCh38_POSITION=2:84544356;ESP6500_GTC=1897,365,20;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001370.1:c.786G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001370.1:p.(L262);ESP6500_MAF=5.4403,16.763,8.8738;ESP6500_TAC=4159,405;CLINVAR_ALLELEID=389519;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.84544356G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH6:1768;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1037863	GT:AD:DP:GQ:PL	1/1:0,34:34:99:937,102,0
chr2	84544443	rs1542477;402733	C	T	597.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1542477;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|5/77|c.873C>T|p.Ser291Ser|1010/12795|873/12477|291/4158||;p3_1000G_AA=C|||;p3_1000G_AC=4090;p3_1000G_AF=0.816693;p3_1000G_AFR_AF=0.4871;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=14091;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.9364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84771567;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=732,652;ESP6500_AA_GTC=175,382,135;ESP6500_CDS_SIZES=NM_001370.1:12477;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=29;ESP6500_EA_AC=2960,218;ESP6500_EA_GTC=1379,202,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001370.1:coding-synonymous;ESP6500_GL=DNAH6;ESP6500_GRCh38_POSITION=2:84544443;ESP6500_GTC=1554,584,143;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001370.1:c.873C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001370.1:p.(S291);ESP6500_MAF=6.8597,47.1098,19.0706;ESP6500_TAC=3692,870;CLINVAR_ALLELEID=389526;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.84544443C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH6:1768;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1542477	GT:AD:DP:GQ:PL	1/1:0,20:20:60:626,60,0
chr2	84573481	rs11891970;402734	C	A	391.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11891970;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|12/77|c.1818C>A|p.Ala606Ala|1955/12795|1818/12477|606/4158||;p3_1000G_AA=A|||;p3_1000G_AC=4656;p3_1000G_AF=0.929712;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=18206;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84800605;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3697,709;ESP6500_AA_AGE=293.0+/-282.3;ESP6500_AA_GTC=1547,603,53;ESP6500_CDS_SIZES=NM_001370.1:12477;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=85;ESP6500_EA_AC=8123,477;ESP6500_EA_AGE=140.9+/-197.4;ESP6500_EA_GTC=3839,445,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001370.1:coding-synonymous;ESP6500_GL=DNAH6;ESP6500_GRCh38_POSITION=2:84573481;ESP6500_GTC=5386,1048,69;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001370.1:c.1818C>A;ESP6500_HGVS_PROTEIN_VAR=NM_001370.1:p.(A606);ESP6500_MAF=5.5465,16.0917,9.1189;ESP6500_TAC=11820,1186;CLINVAR_ALLELEID=389530;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.84573481C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH6:1768;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11891970	GT:AD:DP:GQ:PL	1/1:0,14:14:42:420,42,0
chr2	84595591	rs6761632	C	T	167.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.58;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6761632;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|17/76|c.2725-55C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4338;p3_1000G_AF=0.866214;p3_1000G_AFR_AF=0.6793;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=17492;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.9235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84822715;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:196,15,0
chr2	84605352	rs397697019;rs5832617;rs752732622	CA	C	20.19	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.05;ReadPosRankSum=0.674;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5832617;dbSNPBuildID=134,144,138;ANN=C|intron_variant|MODIFIER|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|19/76|c.3082-130delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,3:4:10:57,0,10
chr2	84606939	rs4276039	T	C	526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4276039;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|20/76|c.3175-37T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4882;p3_1000G_AF=0.97484;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=18658;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84834063;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1368,16;ESP6500_AA_GTC=676,16,0;ESP6500_CDS_SIZES=NM_001370.1:12477;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=175;ESP6500_EA_AC=3012,170;ESP6500_EA_GTC=1424,164,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001370.1:intron;ESP6500_GL=DNAH6;ESP6500_GRCh38_POSITION=2:84606939;ESP6500_GTC=2100,180,3;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001370.1:c.3175-37T>C;ESP6500_MAF=5.3426,1.1561,4.0736;ESP6500_TAC=4380,186	GT:AD:DP:GQ:PL	1/1:0,17:17:51:555,51,0
chr2	84607113	rs4441485	T	C	845.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4441485;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|21/76|c.3294+18T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4138;p3_1000G_AF=0.826278;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=17973;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.9235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84834237;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=778,606;ESP6500_AA_GTC=203,372,117;ESP6500_CDS_SIZES=NM_001370.1:12477;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=116;ESP6500_EA_AC=2927,255;ESP6500_EA_GTC=1344,239,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001370.1:intron;ESP6500_GL=DNAH6;ESP6500_GRCh38_POSITION=2:84607113;ESP6500_GTC=1547,611,125;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001370.1:c.3294+18T>C;ESP6500_MAF=8.0138,43.7861,18.8568;ESP6500_TAC=3705,861	GT:AD:DP:GQ:PL	1/1:0,29:29:87:874,87,0
chr2	84670237	rs12470102	T	A	63.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12470102;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|38/76|c.6307-91T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3872;p3_1000G_AF=0.773163;p3_1000G_AFR_AF=0.4637;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=17116;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84897361;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:91,9,0
chr2	84670393	rs1881095;402740	A	G	488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.44;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1881095;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|39/77|c.6372A>G|p.Leu2124Leu|6509/12795|6372/12477|2124/4158||;p3_1000G_AA=G|||;p3_1000G_AC=4919;p3_1000G_AF=0.982228;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=18937;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84897517;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1368,16;ESP6500_AA_GTC=676,16,0;ESP6500_CDS_SIZES=NM_001370.1:12477;ESP6500_CG=-0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=82;ESP6500_EA_AC=3023,155;ESP6500_EA_GTC=1437,149,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001370.1:coding-synonymous;ESP6500_GL=DNAH6;ESP6500_GRCh38_POSITION=2:84670393;ESP6500_GTC=2113,165,3;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001370.1:c.6372A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001370.1:p.(L2124);ESP6500_MAF=4.8773,1.1561,3.7484;ESP6500_TAC=4391,171;CLINVAR_ALLELEID=389532;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.84670393A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH6:1768;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1881095	GT:AD:DP:GQ:PL	1/1:0,20:20:59:517,59,0
chr2	84672236	rs4832106	G	A	120.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832106;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|DNAH6|DNAH6|transcript|NM_001370.1|protein_coding|39/76|c.6455-91G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3843;p3_1000G_AF=0.767372;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=20301;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=84899360;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:148,12,0
chr2	84881128	rs34667238;rs397985168	G	GC	75.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.08;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34667238;dbSNPBuildID=126,138;ANN=GC|5_prime_UTR_variant|MODIFIER|TRABD2A|TRABD2A|transcript|NM_001277053.1|protein_coding|1/7|c.-90dupG|||||90|,GC|5_prime_UTR_variant|MODIFIER|TRABD2A|TRABD2A|transcript|NM_001080824.2|protein_coding|1/6|c.-90dupG|||||90|,GC|5_prime_UTR_variant|MODIFIER|TRABD2A|TRABD2A|transcript|NM_001307978.1|protein_coding|1/5|c.-90dupG|||||90|;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=7749;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85108252;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:112,9,0
chr2	85046026	rs3769765	C	T	23.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=-0.967;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769765;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|KCMF1|KCMF1|transcript|NM_020122.4|protein_coding|4/6|c.427-78C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1108;p3_1000G_AF=0.221246;p3_1000G_AFR_AF=0.3707;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=20864;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85273149;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:52:52,0,186
chr2	85046379	rs3769764	C	T	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.878;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.143;SOR=2.419;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769764;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|KCMF1|KCMF1|transcript|NM_020122.4|protein_coding|5/6|c.601+101C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=107;p3_1000G_AF=0.0213658;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=16928;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85273502;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:193,0,136
chr2	85049743	rs17025830	T	C	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-0.998;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17025830;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|KCMF1|KCMF1|transcript|NM_020122.4|protein_coding|6/6|c.884+95T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=589;p3_1000G_AF=0.117612;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.0764;p3_1000G_AN=5008;p3_1000G_DP=18666;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.0636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85276866;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:230,0,133
chr2	85303859	rs754458984	G	A	623.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=6.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.784;SOR=1.488;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|TCF7L1|TCF7L1|transcript|NM_031283.2|protein_coding|5/11|c.659-36G>A||||||	GT:AD:DP:GQ:PL	0/1:42,27:69:99:652,0,1015
chr2	85304456	rs11900333	C	A	650.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=4.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11900333;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TCF7L1|TCF7L1|transcript|NM_031283.2|protein_coding|7/11|c.845+118C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2082;p3_1000G_AF=0.415735;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=18073;p3_1000G_EAS_AF=0.5367;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85531579;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:679,57,0
chr2	85322745	rs4240199	A	G	2553.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4240199;dbSNPBuildID=111;ANN=G|stop_lost|HIGH|TGOLN2|TGOLN2|transcript|NM_001206840.1|protein_coding|4/4|c.1363T>C|p.Ter455Glnext*?|1697/6424|1363/1443|455/480||,G|missense_variant|MODERATE|TGOLN2|TGOLN2|transcript|NM_001206841.1|protein_coding|4/4|c.1322T>C|p.Leu441Pro|1656/6383|1322/1362|441/453||,G|splice_region_variant&intron_variant|LOW|TGOLN2|TGOLN2|transcript|NM_001206844.1|protein_coding|4/4|c.1135-4T>C||||||,G|splice_region_variant&intron_variant|LOW|TGOLN2|TGOLN2|transcript|NM_006464.3|protein_coding|3/3|c.1309-4T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3901;p3_1000G_AF=0.778954;p3_1000G_AFR_AF=0.8086;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=18791;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.6004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85549868;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2963,789;ESP6500_AA_GTC=1174,615,87;ESP6500_CDS_SIZES=NM_006464.3:1314,NM_001206844.1:1140,NM_001206841.1:1362,NM_001206840.1:1443;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=60;ESP6500_EA_AC=4965,3233;ESP6500_EA_GTC=1518,1929,652;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006464.3:intron,NM_001206844.1:intron,NM_001206841.1:missense,NM_001206840.1:stop-lost;ESP6500_GL=TGOLN2;ESP6500_GRCh38_POSITION=2:85322745;ESP6500_GS=.,.,98,.;ESP6500_GTC=2692,2544,739;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006464.3:c.1309-4T>C,NM_001206844.1:c.1135-4T>C,NM_001206841.1:c.1322T>C,NM_001206840.1:c.1363T>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_001206841.1:p.(L441P),NM_001206840.1:p.(*455Qext5);ESP6500_MAF=39.4364,21.0288,33.6569;ESP6500_TAC=7928,4022	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,58:58:99:1|1:85322745_A_G:2582,175,0
chr2	85322751	rs3637	A	G	2615.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=1.034;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3637;dbSNPBuildID=36;ANN=G|missense_variant|MODERATE|TGOLN2|TGOLN2|transcript|NM_001206840.1|protein_coding|4/4|c.1357T>C|p.Phe453Leu|1691/6424|1357/1443|453/480||,G|missense_variant|MODERATE|TGOLN2|TGOLN2|transcript|NM_001206841.1|protein_coding|4/4|c.1316T>C|p.Phe439Ser|1650/6383|1316/1362|439/453||,G|intron_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_001206844.1|protein_coding|4/4|c.1135-10T>C||||||,G|intron_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_006464.3|protein_coding|3/3|c.1309-10T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1944;p3_1000G_AF=0.388179;p3_1000G_AFR_AF=0.1188;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=18679;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.3817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85549874;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=553,3199;ESP6500_AA_GTC=50,453,1373;ESP6500_CDS_SIZES=NM_006464.3:1314,NM_001206844.1:1140,NM_001206841.1:1362,NM_001206840.1:1443;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=59;ESP6500_EA_AC=3146,5052;ESP6500_EA_GTC=612,1922,1565;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006464.3:intron,NM_001206844.1:intron,NM_001206841.1:missense,NM_001206840.1:missense;ESP6500_GL=TGOLN2;ESP6500_GRCh38_POSITION=2:85322751;ESP6500_GS=.,.,155,22;ESP6500_GTC=662,2375,2938;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006464.3:c.1309-10T>C,NM_001206844.1:c.1135-10T>C,NM_001206841.1:c.1316T>C,NM_001206840.1:c.1357T>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_001206841.1:p.(F439S),NM_001206840.1:p.(F453L);ESP6500_MAF=38.3752,14.7388,30.954;ESP6500_TAC=3699,8251	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,59:59:99:1|1:85322745_A_G:2644,181,0
chr2	85325063	rs7572750	C	A	543.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7572750;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_001206840.1|protein_coding|2/3|c.1225-65G>T||||||,A|intron_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_001206841.1|protein_coding|2/3|c.1225-65G>T||||||,A|intron_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_001206844.1|protein_coding|3/4|c.1051-65G>T||||||,A|intron_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_006464.3|protein_coding|2/3|c.1225-65G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3598;p3_1000G_AF=0.71845;p3_1000G_AFR_AF=0.6921;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=23012;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.5368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85552186;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:572,48,0
chr2	85326661	rs1044973	C	T	1285.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.84;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1044973;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|TGOLN2|TGOLN2|transcript|NM_001206840.1|protein_coding|2/4|c.1071G>A|p.Gly357Gly|1405/6424|1071/1443|357/480||,T|synonymous_variant|LOW|TGOLN2|TGOLN2|transcript|NM_001206841.1|protein_coding|2/4|c.1071G>A|p.Gly357Gly|1405/6383|1071/1362|357/453||,T|synonymous_variant|LOW|TGOLN2|TGOLN2|transcript|NM_001206844.1|protein_coding|3/5|c.897G>A|p.Gly299Gly|1231/6192|897/1140|299/379||,T|synonymous_variant|LOW|TGOLN2|TGOLN2|transcript|NM_006464.3|protein_coding|2/4|c.1071G>A|p.Gly357Gly|1405/6366|1071/1314|357/437||;p3_1000G_AA=C|||;p3_1000G_AC=3299;p3_1000G_AF=0.658746;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=20073;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.5348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85553784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2188,1616;ESP6500_AA_GTC=630,928,344;ESP6500_CDS_SIZES=NM_006464.3:1314,NM_001206844.1:1140,NM_001206841.1:1362,NM_001206840.1:1443;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=91;ESP6500_EA_AC=4474,3780;ESP6500_EA_GTC=1214,2046,867;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006464.3:coding-synonymous,NM_001206844.1:coding-synonymous,NM_001206841.1:coding-synonymous,NM_001206840.1:coding-synonymous;ESP6500_GL=TGOLN2;ESP6500_GRCh38_POSITION=2:85326661;ESP6500_GTC=1844,2974,1211;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006464.3:c.1071G>A,NM_001206844.1:c.897G>A,NM_001206841.1:c.1071G>A,NM_001206840.1:c.1071G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006464.3:p.(G357),NM_001206844.1:p.(G299),NM_001206841.1:p.(G357),NM_001206840.1:p.(G357);ESP6500_MAF=45.796,42.4816,44.7504;ESP6500_TAC=6662,5396	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1314,114,0
chr2	85326957	rs4247303	G	A	3440.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=107;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.16;SOR=1.211;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4247303;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|TGOLN2|TGOLN2|transcript|NM_001206840.1|protein_coding|2/4|c.775C>T|p.Arg259Trp|1109/6424|775/1443|259/480||,A|missense_variant|MODERATE|TGOLN2|TGOLN2|transcript|NM_001206841.1|protein_coding|2/4|c.775C>T|p.Arg259Trp|1109/6383|775/1362|259/453||,A|missense_variant|MODERATE|TGOLN2|TGOLN2|transcript|NM_006464.3|protein_coding|2/4|c.775C>T|p.Arg259Trp|1109/6366|775/1314|259/437||,A|intron_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_001206844.1|protein_coding|2/4|c.753+22C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2903;p3_1000G_AF=0.579673;p3_1000G_AFR_AF=0.3419;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=18921;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.4881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85554080;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1390,2502;ESP6500_AA_GTC=244,902,800;ESP6500_CDS_SIZES=NM_006464.3:1314,NM_001206844.1:1140,NM_001206841.1:1362,NM_001206840.1:1443;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=81;ESP6500_EA_AC=4087,4191;ESP6500_EA_GTC=1011,2065,1063;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006464.3:missense,NM_001206844.1:intron,NM_001206841.1:missense,NM_001206840.1:missense;ESP6500_GL=TGOLN2;ESP6500_GRCh38_POSITION=2:85326957;ESP6500_GS=101,.,101,101;ESP6500_GTC=1255,2967,1863;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006464.3:c.775C>T,NM_001206844.1:c.753+22C>T,NM_001206841.1:c.775C>T,NM_001206840.1:c.775C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006464.3:p.(R259W),.,NM_001206841.1:p.(R259W),NM_001206840.1:p.(R259W);ESP6500_MAF=49.3718,35.7143,45.0041;ESP6500_PH=probably-damaging:0.999,.,probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=5477,6693	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3469,321,0
chr2	85328139	rs10460585	T	G	409.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10460585;dbSNPBuildID=119;ANN=G|5_prime_UTR_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_001206840.1|protein_coding|1/4|c.-177A>C|||||177|,G|5_prime_UTR_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_001206841.1|protein_coding|1/4|c.-177A>C|||||177|,G|5_prime_UTR_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_001206844.1|protein_coding|1/5|c.-177A>C|||||177|,G|5_prime_UTR_variant|MODIFIER|TGOLN2|TGOLN2|transcript|NM_006464.3|protein_coding|1/4|c.-177A>C|||||177|;p3_1000G_AA=G|||;p3_1000G_AC=3939;p3_1000G_AF=0.786542;p3_1000G_AFR_AF=0.8109;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=10466;p3_1000G_EAS_AF=0.9573;p3_1000G_EUR_AF=0.6153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85555262;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:438,33,0
chr2	85343819	rs9309620	G	C	445.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9309620;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|RETSAT|RETSAT|transcript|NM_017750.3|protein_coding|9/10|c.1534-21C>G||||||	GT:AD:DP:GQ:PL	1/1:0,12:12:36:474,36,0
chr2	85344587	rs4832171	A	G	1223.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832171;dbSNPBuildID=111;ANN=G|splice_region_variant&intron_variant|LOW|RETSAT|RETSAT|transcript|NM_017750.3|protein_coding|7/10|c.1256+7T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4570;p3_1000G_AF=0.91254;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=20734;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85571710;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4115,291;ESP6500_AA_AGE=799.9+/-415.5;ESP6500_AA_GTC=1925,265,13;ESP6500_CDS_SIZES=NM_017750.3:1833;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=105;ESP6500_EA_AC=6368,2232;ESP6500_EA_AGE=709.5+/-405.7;ESP6500_EA_GTC=2366,1636,298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017750.3:intron;ESP6500_GL=RETSAT;ESP6500_GRCh38_POSITION=2:85344587;ESP6500_GTC=4291,1901,311;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017750.3:c.1256+7T>C;ESP6500_MAF=25.9535,6.6046,19.3987;ESP6500_TAC=10483,2523	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1252,114,0
chr2	85345910	rs908302	G	A	2183.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.12;SOR=0.832;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs908302;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|RETSAT|RETSAT|transcript|NM_017750.3|protein_coding|6/10|c.1117+65C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3515;p3_1000G_AF=0.701877;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=19150;p3_1000G_EAS_AF=0.9573;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85573033;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2212,222,0
chr2	85345926	rs908304	G	A	2542.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=0.876;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs908304;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|RETSAT|RETSAT|transcript|NM_017750.3|protein_coding|6/10|c.1117+49C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2002;p3_1000G_AF=0.39976;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=18581;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.3797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85573049;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=854,3552;ESP6500_AA_AGE=329.3+/-301.0;ESP6500_AA_GTC=85,684,1434;ESP6500_CDS_SIZES=NM_017750.3:1833;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=62;ESP6500_EA_AC=3326,5274;ESP6500_EA_AGE=487.8+/-372.2;ESP6500_EA_GTC=639,2048,1613;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017750.3:intron;ESP6500_GL=RETSAT;ESP6500_GRCh38_POSITION=2:85345926;ESP6500_GTC=724,2732,3047;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017750.3:c.1117+49C>T;ESP6500_MAF=38.6744,19.3827,32.139;ESP6500_TAC=4180,8826	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2571,243,0
chr2	85368695	rs955592;508116	C	T	681.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.023;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.547;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs955592;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|ELMOD3|ELMOD3|transcript|NM_032213.4|protein_coding|5/11|c.209C>T|p.Thr70Ile|551/2772|209/1176|70/391||,T|missense_variant|MODERATE|ELMOD3|ELMOD3|transcript|NM_001135021.1|protein_coding|8/15|c.209C>T|p.Thr70Ile|874/2601|209/1146|70/381||,T|missense_variant|MODERATE|ELMOD3|ELMOD3|transcript|NM_001135022.1|protein_coding|7/14|c.209C>T|p.Thr70Ile|690/2417|209/1146|70/381||,T|missense_variant|MODERATE|ELMOD3|ELMOD3|transcript|NM_001135023.1|protein_coding|6/13|c.209C>T|p.Thr70Ile|646/2373|209/1146|70/381||,T|missense_variant|MODERATE|ELMOD3|ELMOD3|transcript|NM_001329791.1|protein_coding|7/14|c.209C>T|p.Thr70Ile|988/2715|209/1146|70/381||,T|missense_variant|MODERATE|ELMOD3|ELMOD3|transcript|NM_001329792.1|protein_coding|6/13|c.209C>T|p.Thr70Ile|595/2322|209/1146|70/381||,T|missense_variant|MODERATE|ELMOD3|ELMOD3|transcript|NM_001329793.1|protein_coding|5/12|c.209C>T|p.Thr70Ile|551/2278|209/1146|70/381||,T|non_coding_transcript_exon_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138131.1|pseudogene|6/15|n.646C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138132.1|pseudogene|7/13|n.988C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138133.1|pseudogene|5/12|n.551C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=158;p3_1000G_AF=0.0315495;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=18926;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0.0547;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85595818;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=140,4266;ESP6500_AA_AGE=97.1+/-135.8;ESP6500_AA_GTC=2,136,2065;ESP6500_CDS_SIZES=NM_032213.4:1176,NM_001135023.1:1146,NM_001135022.1:1146,NM_001135021.1:1146;ESP6500_CG=2.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=117;ESP6500_EA_AC=616,7984;ESP6500_EA_AGE=160.5+/-213.6;ESP6500_EA_GTC=21,574,3705;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032213.4:missense,NM_001135023.1:missense,NM_001135022.1:missense,NM_001135021.1:missense;ESP6500_GL=ELMOD3;ESP6500_GRCh38_POSITION=2:85368695;ESP6500_GS=89,89,89,89;ESP6500_GTC=23,710,5770;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032213.4:c.209C>T,NM_001135023.1:c.209C>T,NM_001135022.1:c.209C>T,NM_001135021.1:c.209C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032213.4:p.(T70I),NM_001135023.1:p.(T70I),NM_001135022.1:p.(T70I),NM_001135021.1:p.(T70I);ESP6500_MAF=7.1628,3.1775,5.8127;ESP6500_PH=benign:0.047,benign:0.047,benign:0.047,benign:0.047;ESP6500_TAC=756,12250;CLINVAR_ALLELEID=500375;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.85368695C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ELMOD3:84173;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=955592	GT:AD:DP:GQ:PL	0/1:14,27:41:99:710,0,361
chr2	85389635	rs17026285	T	C	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.942;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.052;SOR=1.489;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17026285;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_032213.4|protein_coding|9/10|c.739-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001135021.1|protein_coding|12/14|c.739-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001135022.1|protein_coding|11/13|c.739-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001135023.1|protein_coding|10/12|c.739-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001329791.1|protein_coding|11/13|c.739-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001329792.1|protein_coding|10/12|c.739-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001329793.1|protein_coding|9/11|c.739-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138131.1|pseudogene|12/14|n.1383-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138132.1|pseudogene|10/12|n.1395-116T>C||||||,C|intron_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138133.1|pseudogene|9/11|n.1086-116T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1019;p3_1000G_AF=0.203474;p3_1000G_AFR_AF=0.3064;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=19017;p3_1000G_EAS_AF=0.0585;p3_1000G_EUR_AF=0.2187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85616758;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,9:31:99:214,0,602
chr2	85394936	rs6886	T	C	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.193;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.517;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6886;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001256139.1|protein_coding|10/10|c.1004A>G|p.His335Arg|1108/1296|1004/1047|335/348||,C|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001320732.1|protein_coding|10/10|c.1004A>G|p.His335Arg|1084/1272|1004/1047|335/348||,C|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001320733.1|protein_coding|10/10|c.1004A>G|p.His335Arg|1045/1233|1004/1047|335/348||,C|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001256140.1|protein_coding|10/10|c.959A>G|p.His320Arg|1353/1541|959/1002|320/333||,C|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001320734.1|protein_coding|9/9|c.911A>G|p.His304Arg|1305/1493|911/954|304/317||,C|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001747.3|protein_coding|10/10|c.1004A>G|p.His335Arg|1398/1586|1004/1047|335/348||,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_032213.4|protein_coding||c.*4438T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001135021.1|protein_coding||c.*3974T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001135022.1|protein_coding||c.*3974T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001135023.1|protein_coding||c.*3974T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001329791.1|protein_coding||c.*3974T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001329792.1|protein_coding||c.*3974T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NM_001329793.1|protein_coding||c.*3974T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138131.1|pseudogene||n.*3184T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138132.1|pseudogene||n.*3184T>C|||||3184|,C|downstream_gene_variant|MODIFIER|ELMOD3|ELMOD3|transcript|NR_138133.1|pseudogene||n.*3184T>C|||||3184|;p3_1000G_AA=C|||;p3_1000G_AC=2930;p3_1000G_AF=0.585064;p3_1000G_AFR_AF=0.7489;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=19490;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85622059;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3228,1178;ESP6500_AA_AGE=413.0+/-336.3;ESP6500_AA_GTC=1184,860,159;ESP6500_CDS_SIZES=NM_001747.3:1047,NM_001256140.1:1002,NM_001256139.1:1047;ESP6500_CG=3.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=55;ESP6500_EA_AC=5543,3057;ESP6500_EA_AGE=469.4+/-367.6;ESP6500_EA_GTC=1807,1929,564;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001747.3:missense,NM_001256140.1:missense,NM_001256139.1:missense;ESP6500_GL=CAPG;ESP6500_GRCh38_POSITION=2:85394936;ESP6500_GS=29,29,29;ESP6500_GTC=2991,2789,723;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001747.3:c.1004A>G,NM_001256140.1:c.959A>G,NM_001256139.1:c.1004A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001747.3:p.(H335R),NM_001256140.1:p.(H320R),NM_001256139.1:p.(H335R);ESP6500_MAF=35.5465,26.7363,32.5619;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=8771,4235	GT:AD:DP:GQ:PL	0/1:15,13:28:99:331,0,388
chr2	85398099	rs6885	T	G	1118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.25;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=2.606;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=2.01;SOR=0.983;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6885;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|CAPG|CAPG|transcript|NM_001256139.1|protein_coding|8/10|c.813A>C|p.Pro271Pro|917/1296|813/1047|271/348||,G|synonymous_variant|LOW|CAPG|CAPG|transcript|NM_001320732.1|protein_coding|8/10|c.813A>C|p.Pro271Pro|893/1272|813/1047|271/348||,G|synonymous_variant|LOW|CAPG|CAPG|transcript|NM_001320733.1|protein_coding|8/10|c.813A>C|p.Pro271Pro|854/1233|813/1047|271/348||,G|synonymous_variant|LOW|CAPG|CAPG|transcript|NM_001256140.1|protein_coding|8/10|c.768A>C|p.Pro256Pro|1162/1541|768/1002|256/333||,G|synonymous_variant|LOW|CAPG|CAPG|transcript|NM_001320734.1|protein_coding|7/9|c.720A>C|p.Pro240Pro|1114/1493|720/954|240/317||,G|synonymous_variant|LOW|CAPG|CAPG|transcript|NM_001747.3|protein_coding|8/10|c.813A>C|p.Pro271Pro|1207/1586|813/1047|271/348||;p3_1000G_AA=G|||;p3_1000G_AC=1260;p3_1000G_AF=0.251597;p3_1000G_AFR_AF=0.4175;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=19547;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.2336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85625222;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1644,2762;ESP6500_AA_AGE=659.6+/-400.6;ESP6500_AA_GTC=319,1006,878;ESP6500_CDS_SIZES=NM_001747.3:1047,NM_001256140.1:1002,NM_001256139.1:1047;ESP6500_CG=-2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=198;ESP6500_EA_AC=2102,6498;ESP6500_EA_AGE=716.7+/-406.1;ESP6500_EA_GTC=272,1558,2470;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001747.3:coding-synonymous,NM_001256140.1:coding-synonymous,NM_001256139.1:coding-synonymous;ESP6500_GL=CAPG;ESP6500_GRCh38_POSITION=2:85398099;ESP6500_GTC=591,2564,3348;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001747.3:c.813A>C,NM_001256140.1:c.768A>C,NM_001256139.1:c.813A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001747.3:p.(P271),NM_001256140.1:p.(P256),NM_001256139.1:p.(P271);ESP6500_MAF=24.4419,37.3128,28.8021;ESP6500_TAC=3746,9260	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1147,0,1250
chr2	85399356	rs34063934	G	C	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.11;ReadPosRankSum=-0.876;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34063934;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001256139.1|protein_coding|5/9|c.517-71C>G||||||,C|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320732.1|protein_coding|5/9|c.517-71C>G||||||,C|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320733.1|protein_coding|5/9|c.517-71C>G||||||,C|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001256140.1|protein_coding|5/9|c.517-71C>G||||||,C|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320734.1|protein_coding|5/8|c.517-71C>G||||||,C|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001747.3|protein_coding|5/9|c.517-71C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1126;p3_1000G_AF=0.22484;p3_1000G_AFR_AF=0.3207;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=19803;p3_1000G_EAS_AF=0.119;p3_1000G_EUR_AF=0.2316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85626479;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:334,0,202
chr2	85401433	rs2002444	A	G	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.902;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.027;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2002444;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001256139.1|protein_coding|4/9|c.351+96T>C||||||,G|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320732.1|protein_coding|4/9|c.351+96T>C||||||,G|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320733.1|protein_coding|4/9|c.351+96T>C||||||,G|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001256140.1|protein_coding|4/9|c.351+96T>C||||||,G|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320734.1|protein_coding|4/8|c.351+96T>C||||||,G|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001747.3|protein_coding|4/9|c.351+96T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=398;p3_1000G_AF=0.0794728;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=16003;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0.1233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85628556;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:349,0,498
chr2	85401860	rs2229668	C	T	652.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.393;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.783;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.768;SOR=1.338;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229668;dbSNPBuildID=98;ANN=T|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001256139.1|protein_coding|3/10|c.121G>A|p.Val41Ile|225/1296|121/1047|41/348||,T|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001320732.1|protein_coding|3/10|c.121G>A|p.Val41Ile|201/1272|121/1047|41/348||,T|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001320733.1|protein_coding|3/10|c.121G>A|p.Val41Ile|162/1233|121/1047|41/348||,T|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001256140.1|protein_coding|3/10|c.121G>A|p.Val41Ile|515/1541|121/1002|41/333||,T|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001320734.1|protein_coding|3/9|c.121G>A|p.Val41Ile|515/1493|121/954|41/317||,T|missense_variant|MODERATE|CAPG|CAPG|transcript|NM_001747.3|protein_coding|3/10|c.121G>A|p.Val41Ile|515/1586|121/1047|41/348||,T|sequence_feature|LOW|CAPG|CAPG|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001256140.1|protein_coding|3/10|c.121G>A||||||,T|sequence_feature|LOW|CAPG|CAPG|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001747.3|protein_coding|3/10|c.121G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=461;p3_1000G_AF=0.0920527;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=15851;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.1233;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85628983;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=427,3979;ESP6500_AA_AGE=206.8+/-228.3;ESP6500_AA_GTC=17,393,1793;ESP6500_CDS_SIZES=NM_001747.3:1047,NM_001256140.1:1002,NM_001256139.1:1047;ESP6500_CG=-9.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=113;ESP6500_EA_AC=1217,7383;ESP6500_EA_AGE=245.3+/-274.2;ESP6500_EA_GTC=79,1059,3162;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001747.3:missense,NM_001256140.1:missense,NM_001256139.1:missense;ESP6500_GL=CAPG;ESP6500_GRCh38_POSITION=2:85401860;ESP6500_GS=29,29,29;ESP6500_GTC=96,1452,4955;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001747.3:c.121G>A,NM_001256140.1:c.121G>A,NM_001256139.1:c.121G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001747.3:p.(V41I),NM_001256140.1:p.(V41I),NM_001256139.1:p.(V41I);ESP6500_MAF=14.1512,9.6913,12.6403;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=1644,11362	GT:AD:DP:GQ:PL	0/1:30,27:57:99:681,0,872
chr2	85402207	rs75351468	C	A	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.751;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.167;SOR=1.347;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75351468;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001256139.1|protein_coding|1/9|c.-13-49G>T||||||,A|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320732.1|protein_coding|1/9|c.-13-49G>T||||||,A|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320733.1|protein_coding|1/9|c.-13-49G>T||||||,A|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001256140.1|protein_coding|1/9|c.-13-49G>T||||||,A|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001320734.1|protein_coding|1/8|c.-13-49G>T||||||,A|intron_variant|MODIFIER|CAPG|CAPG|transcript|NM_001747.3|protein_coding|1/9|c.-13-49G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=133;p3_1000G_AF=0.0265575;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=19760;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85629330;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=22,1362;ESP6500_AA_GTC=0,22,670;ESP6500_CDS_SIZES=NM_001747.3:1047,NM_001256140.1:1002,NM_001256139.1:1047;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=52;ESP6500_EA_AC=227,2955;ESP6500_EA_GTC=5,217,1369;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001747.3:intron,NM_001256140.1:intron,NM_001256139.1:intron;ESP6500_GL=CAPG;ESP6500_GRCh38_POSITION=2:85402207;ESP6500_GTC=5,239,2039;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001747.3:c.-62G>T,NM_001256140.1:c.-62G>T,NM_001256139.1:c.-62G>T;ESP6500_MAF=7.1339,1.5896,5.4534;ESP6500_TAC=249,4317	GT:AD:DP:GQ:PL	0/1:9,9:18:99:247,0,258
chr2	85435513	rs7589663	C	T	619.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.869;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.177;SOR=0.901;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7589663;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SH2D6|SH2D6|transcript|NM_201594.2|protein_coding|18/20|c.157-153C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1235;p3_1000G_AF=0.246605;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=19073;p3_1000G_EAS_AF=0.2847;p3_1000G_EUR_AF=0.1103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85662636;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1812,2594;ESP6500_AA_AGE=527.1+/-372.1;ESP6500_AA_GTC=377,1058,768;ESP6500_CDS_SIZES=NM_198482.1:528;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=60;ESP6500_EA_AC=1101,7499;ESP6500_EA_AGE=229.0+/-263.8;ESP6500_EA_GTC=68,965,3267;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198482.1:intron;ESP6500_GL=SH2D6;ESP6500_GRCh38_POSITION=2:85435513;ESP6500_GTC=445,2023,4035;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198482.1:c.252+17C>T;ESP6500_MAF=12.8023,41.1257,22.3974;ESP6500_TAC=2913,10093	GT:AD:DP:GQ:PL	0/1:34,27:61:99:648,0,936
chr2	85435527	rs6547618	A	G	574.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.232;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.606;SOR=0.683;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6547618;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SH2D6|SH2D6|transcript|NM_201594.2|protein_coding|18/20|c.157-139A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3022;p3_1000G_AF=0.603435;p3_1000G_AFR_AF=0.7345;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=18734;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85662650;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3224,1180;ESP6500_AA_AGE=401.7+/-332.1;ESP6500_AA_GTC=1180,864,158;ESP6500_CDS_SIZES=NM_198482.1:528;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=5511,3089;ESP6500_EA_AGE=464.9+/-366.4;ESP6500_EA_GTC=1780,1951,569;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198482.1:intron;ESP6500_GL=SH2D6;ESP6500_GRCh38_POSITION=2:85435527;ESP6500_GTC=2960,2815,727;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198482.1:c.252+31A>G;ESP6500_MAF=35.9186,26.7938,32.8284;ESP6500_TAC=8735,4269	GT:AD:DP:GQ:PL	0/1:30,24:54:99:603,0,801
chr2	85541019	rs139384269;rs200754150;rs776383454	G	GCATA	397.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.285;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.89;ReadPosRankSum=-0.836;SOR=0.608;INS;HET;VARTYPE=INS;dbSNP138_ID=rs139384269,rs200754150;dbSNPBuildID=137,144,134;ANN=GCATA|sequence_feature|LOW|MAT2A|MAT2A|metal-binding-site:Magnesium|NM_005911.5|protein_coding|1/8|c.92-64_92-63insCATA||||||,GCATA|upstream_gene_variant|MODIFIER|PARTICL|PARTICL|transcript|NR_038942.1|pseudogene||n.-2137_-2134dupTATG|||||2134|,GCATA|downstream_gene_variant|MODIFIER|GGCX|GGCX|transcript|NM_000821.6|protein_coding||c.*8911_*8914dupTATG|||||3700|,GCATA|downstream_gene_variant|MODIFIER|GGCX|GGCX|transcript|NM_001142269.3|protein_coding||c.*8911_*8914dupTATG|||||3700|,GCATA|intron_variant|MODIFIER|MAT2A|MAT2A|transcript|NM_005911.5|protein_coding|1/8|c.92-50_92-47dupATAC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=103;p3_1000G_AF=0.0205671;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=20290;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85768142;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,11:20:99:435,0,444
chr2	85542123	rs1078005	G	A	1086.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1078005;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|PARTICL|PARTICL|transcript|NR_038942.1|pseudogene||n.-3237C>T|||||3237|,A|downstream_gene_variant|MODIFIER|GGCX|GGCX|transcript|NM_000821.6|protein_coding||c.*7811C>T|||||2597|,A|downstream_gene_variant|MODIFIER|GGCX|GGCX|transcript|NM_001142269.3|protein_coding||c.*7811C>T|||||2597|,A|intron_variant|MODIFIER|MAT2A|MAT2A|transcript|NM_005911.5|protein_coding|5/8|c.550-32G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=23647;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85769246;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4391,15;ESP6500_AA_AGE=22.3+/-47.3;ESP6500_AA_GTC=2188,15,0;ESP6500_CDS_SIZES=NM_005911.5:1188;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=82;ESP6500_EA_AC=8468,132;ESP6500_EA_AGE=67.0+/-129.4;ESP6500_EA_GTC=4170,128,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005911.5:intron;ESP6500_GL=MAT2A;ESP6500_GRCh38_POSITION=2:85542123;ESP6500_GTC=6358,143,2;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005911.5:c.550-32G>A;ESP6500_MAF=1.5349,0.3404,1.1302;ESP6500_TAC=12859,147	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1115,99,0
chr2	85542588	rs1078004;381190	C	G	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.661;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=6.822;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.082;SOR=0.185;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1078004;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|MAT2A|MAT2A|transcript|NM_005911.5|protein_coding|7/9|c.792C>G|p.Arg264Arg|1102/3006|792/1188|264/395||,G|upstream_gene_variant|MODIFIER|PARTICL|PARTICL|transcript|NR_038942.1|pseudogene||n.-3702G>C|||||3702|,G|downstream_gene_variant|MODIFIER|GGCX|GGCX|transcript|NM_000821.6|protein_coding||c.*7346G>C|||||2132|,G|downstream_gene_variant|MODIFIER|GGCX|GGCX|transcript|NM_001142269.3|protein_coding||c.*7346G>C|||||2132|;p3_1000G_AA=G|||;p3_1000G_AC=2468;p3_1000G_AF=0.492812;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=20209;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.494;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85769711;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2978,1428;ESP6500_AA_AGE=464.2+/-353.8;ESP6500_AA_GTC=1016,946,241;ESP6500_CDS_SIZES=NM_005911.5:1188;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=138;ESP6500_EA_AC=3955,4645;ESP6500_EA_AGE=602.6+/-394.5;ESP6500_EA_GTC=911,2133,1256;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005911.5:coding-synonymous;ESP6500_GL=MAT2A;ESP6500_GRCh38_POSITION=2:85542588;ESP6500_GTC=1927,3079,1497;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005911.5:c.792C>G;ESP6500_HGVS_PROTEIN_VAR=NM_005911.5:p.(R264);ESP6500_MAF=45.9884,32.4103,46.6938;ESP6500_TAC=6933,6073;CLINVAR_ALLELEID=367044;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.85542588C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MAT2A:4144;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1078004	GT:AD:DP:GQ:PL	0/1:24,18:42:99:453,0,755
chr2	85552984	rs10179904;337265	G	A	975.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.075;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=4.738;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.778;SOR=0.711;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10179904;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|GGCX|GGCX|transcript|NM_000821.6|protein_coding|9/15|c.1242C>T|p.Thr414Thr|1348/7597|1242/2277|414/758||,A|synonymous_variant|LOW|GGCX|GGCX|transcript|NM_001142269.3|protein_coding|8/14|c.1071C>T|p.Thr357Thr|1177/7426|1071/2106|357/701||;p3_1000G_AA=G|||;p3_1000G_AC=596;p3_1000G_AF=0.11901;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=19792;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.1123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85780107;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=508,3898;ESP6500_AA_AGE=235.2+/-247.8;ESP6500_AA_GTC=30,448,1725;ESP6500_CDS_SIZES=NM_001142269.2:2106,NM_000821.5:2277;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=178;ESP6500_EA_AC=1009,7591;ESP6500_EA_AGE=217.7+/-256.3;ESP6500_EA_GTC=56,897,3347;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001142269.2:coding-synonymous,NM_000821.5:coding-synonymous;ESP6500_GL=GGCX;ESP6500_GRCh38_POSITION=2:85552984;ESP6500_GTC=86,1345,5072;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001142269.2:c.1071C>T,NM_000821.5:c.1242C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001142269.2:p.(T357),NM_000821.5:p.(T414);ESP6500_MAF=11.7326,11.5297,11.6638;ESP6500_TAC=1517,11489;CLINVAR_AF_ESP=0.1166;CLINVAR_AF_EXAC=0.11765;CLINVAR_AF_TGP=0.1190;CLINVAR_ALLELEID=290847;CLINVAR_CLNDISDB=MedGen:CN239236;CLINVAR_CLNDN=Vitamin_K-Dependent_Clotting_Factors;CLINVAR_CLNHGVS=NC_000002.12:g.85552984G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:63221;CLINVAR_GENEINFO=GGCX:2677;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10179904	GT:AD:DP:GQ:PL	0/1:31,38:69:99:1004,0,843
chr2	85561052	rs7568458	T	A	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=-0.431;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7568458;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|GGCX|GGCX|transcript|NM_000821.6|protein_coding|1/14|c.44-67A>T||||||,A|intron_variant|MODIFIER|GGCX|GGCX|transcript|NM_001142269.3|protein_coding|1/13|c.43+334A>T||||||,A|intron_variant|MODIFIER|GGCX|GGCX|transcript|NM_001311312.1|protein_coding|1/2|c.44-67A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2438;p3_1000G_AF=0.486821;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=14091;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.4781;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85788175;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:53:139,0,53
chr2	85578945	rs3731827	T	C	900.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.649;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=3.435;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.571;SOR=0.359;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731827;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|VAMP8|VAMP8|transcript|NM_003761.4|protein_coding|1/2|c.4-64T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2254;p3_1000G_AF=0.45008;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=18273;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85806068;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,36:68:99:929,0,796
chr2	85579959	rs1348818	T	A	90.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.862;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.437;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1348818;dbSNPBuildID=88;ANN=A|upstream_gene_variant|MODIFIER|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding||c.-4532T>A|||||4449|,A|intron_variant|MODIFIER|VAMP8|VAMP8|transcript|NM_003761.4|protein_coding|2/2|c.162+792T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,5:10:99:1|0:85579958_AT_A:119,0,146
chr2	85581471	rs11326680;rs397868716	CA	C	26.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.34;ReadPosRankSum=-1.282;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11326680;dbSNPBuildID=137,138;ANN=C|upstream_gene_variant|MODIFIER|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding||c.-3019delA|||||2936|,C|intron_variant|MODIFIER|VAMP8|VAMP8|transcript|NM_003761.4|protein_coding|2/2|c.163-90delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2632;p3_1000G_AF=0.525559;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=18561;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85808594;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,4:8:61:64,0,61
chr2	85581614	rs1009	A	G	515.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.019;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1009;dbSNPBuildID=123;ANN=G|synonymous_variant|LOW|VAMP8|VAMP8|transcript|NM_003761.4|protein_coding|3/3|c.201A>G|p.Arg67Arg|357/776|201/303|67/100||,G|upstream_gene_variant|MODIFIER|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding||c.-2877A>G|||||2794|;p3_1000G_AA=G|||;p3_1000G_AC=2201;p3_1000G_AF=0.439497;p3_1000G_AFR_AF=0.5976;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=21409;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.4314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85808737;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2423,1983;ESP6500_AA_AGE=557.4+/-379.7;ESP6500_AA_GTC=672,1079,452;ESP6500_CDS_SIZES=NM_003761.4:303;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=340;ESP6500_EA_AC=3554,5046;ESP6500_EA_AGE=629.9+/-398.3;ESP6500_EA_GTC=734,2086,1480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003761.4:coding-synonymous;ESP6500_GL=VAMP8;ESP6500_GRCh38_POSITION=2:85581614;ESP6500_GTC=1406,3165,1932;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003761.4:c.201A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003761.4:p.(R67);ESP6500_MAF=41.3256,45.0068,45.9557;ESP6500_TAC=5977,7029	GT:AD:DP:GQ:PL	0/1:17,19:36:99:544,0,460
chr2	85581748	rs1058588	C	T	541.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.34;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.24;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1058588;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|VAMP8|VAMP8|transcript|NM_003761.4|protein_coding|3/3|c.*32C>T|||||32|,T|upstream_gene_variant|MODIFIER|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding||c.-2743C>T|||||2660|;p3_1000G_AA=C|||;p3_1000G_AC=2087;p3_1000G_AF=0.416733;p3_1000G_AFR_AF=0.5136;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=19897;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.4314;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85808871;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2096,2310;ESP6500_AA_AGE=569.7+/-382.7;ESP6500_AA_GTC=505,1086,612;ESP6500_CDS_SIZES=NM_003761.4:303;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=189;ESP6500_EA_AC=3545,5055;ESP6500_EA_AGE=512.2+/-377.9;ESP6500_EA_GTC=733,2079,1488;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003761.4:utr-3;ESP6500_GL=VAMP8;ESP6500_GRCh38_POSITION=2:85581748;ESP6500_GTC=1238,3165,2100;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003761.4:c.*32C>T;ESP6500_MAF=41.2209,47.5715,43.3723;ESP6500_TAC=5641,7365	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,20:39:99:0|1:85581739_T_C:570,0,479
chr2	85591674	rs2289976	G	A	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.607;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.547;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289976;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|RNF181|RNF181|transcript|NM_016494.3|protein_coding||c.-4090G>A|||||4040|,A|intron_variant|MODIFIER|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding|1/2|c.4-51G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=962;p3_1000G_AF=0.192093;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=20385;p3_1000G_EAS_AF=0.0873;p3_1000G_EUR_AF=0.2823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85818797;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=699,3707;ESP6500_AA_AGE=289.5+/-280.5;ESP6500_AA_GTC=51,597,1555;ESP6500_CDS_SIZES=NM_006634.2:351;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=2409,6191;ESP6500_EA_AGE=395.0+/-344.9;ESP6500_EA_GTC=335,1739,2226;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006634.2:intron;ESP6500_GL=VAMP5;ESP6500_GRCh38_POSITION=2:85591674;ESP6500_GTC=386,2336,3781;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006634.2:c.4-51G>A;ESP6500_MAF=28.0116,15.8647,23.8967;ESP6500_TAC=3108,9898	GT:AD:DP:GQ:PL	0/1:16,16:32:99:494,0,455
chr2	85591763	rs14976	C	T	605.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.267;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.102;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs14976;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding|2/3|c.42C>T|p.Asn14Asn|125/665|42/351|14/116||,T|upstream_gene_variant|MODIFIER|RNF181|RNF181|transcript|NM_016494.3|protein_coding||c.-4001C>T|||||3951|;p3_1000G_AA=C|||;p3_1000G_AC=963;p3_1000G_AF=0.192292;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=18936;p3_1000G_EAS_AF=0.0883;p3_1000G_EUR_AF=0.2813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85818886;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=692,3714;ESP6500_AA_AGE=290.7+/-281.1;ESP6500_AA_GTC=51,590,1562;ESP6500_CDS_SIZES=NM_006634.2:351;ESP6500_CG=-3.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=119;ESP6500_EA_AC=2410,6190;ESP6500_EA_AGE=401.2+/-347.1;ESP6500_EA_GTC=335,1740,2225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006634.2:coding-synonymous;ESP6500_GL=VAMP5;ESP6500_GRCh38_POSITION=2:85591763;ESP6500_GTC=386,2330,3787;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006634.2:c.42C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006634.2:p.(N14);ESP6500_MAF=28.0233,15.7059,23.8505;ESP6500_TAC=3102,9904	GT:AD:DP:GQ:PL	0/1:28,26:54:99:634,0,752
chr2	85592904	rs72843872	A	G	329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.05;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=6.628;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=2.1;SOR=3.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72843872;dbSNPBuildID=130;ANN=G|upstream_gene_variant|MODIFIER|RNF181|RNF181|transcript|NM_016494.3|protein_coding||c.-2860A>G|||||2810|,G|intron_variant|MODIFIER|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding|2/2|c.142-44A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=956;p3_1000G_AF=0.190895;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=18412;p3_1000G_EAS_AF=0.0883;p3_1000G_EUR_AF=0.2843;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85820027;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=641,3765;ESP6500_AA_GTC=49,543,1611;ESP6500_CDS_SIZES=NM_006634.2:351;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=78;ESP6500_EA_AC=2280,6320;ESP6500_EA_GTC=336,1608,2356;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006634.2:intron;ESP6500_GL=VAMP5;ESP6500_GRCh38_POSITION=2:85592904;ESP6500_GTC=385,2151,3967;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006634.2:c.142-44A>G;ESP6500_MAF=26.5116,14.5483,22.4589;ESP6500_TAC=2921,10085	GT:AD:DP:GQ:PL	0/1:12,11:23:99:358,0,331
chr2	85596961	rs2232748	G	C	1392.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.99;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.348;SOR=0.586;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2232748;dbSNPBuildID=98;ANN=C|downstream_gene_variant|MODIFIER|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding||c.*3804G>C|||||3573|,C|downstream_gene_variant|MODIFIER|TMEM150A|TMEM150A|transcript|NM_001031738.2|protein_coding||c.*2115C>G|||||1586|,C|downstream_gene_variant|MODIFIER|TMEM150A|TMEM150A|transcript|NR_033179.1|pseudogene||n.*1586C>G|||||1586|,C|intron_variant|MODIFIER|RNF181|RNF181|transcript|NM_016494.3|protein_coding|3/4|c.327+30G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2392;p3_1000G_AF=0.477636;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=21127;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.3618;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85824084;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3281,1125;ESP6500_AA_AGE=400.6+/-331.6;ESP6500_AA_GTC=1223,835,145;ESP6500_CDS_SIZES=NM_016494.3:462;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=95;ESP6500_EA_AC=2964,5636;ESP6500_EA_AGE=666.1+/-402.3;ESP6500_EA_GTC=493,1978,1829;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016494.3:intron;ESP6500_GL=RNF181;ESP6500_GRCh38_POSITION=2:85596961;ESP6500_GTC=1716,2813,1974;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_016494.3:c.327+30G>C;ESP6500_MAF=34.4651,25.5334,48.0163;ESP6500_TAC=6245,6761	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1421,0,1436
chr2	85597151	.	C	T	757.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.351;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=1.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-1.517;SOR=0.941;SNP;HET;VARTYPE=SNP;ANN=T|synonymous_variant|LOW|RNF181|RNF181|transcript|NM_016494.3|protein_coding|4/5|c.375C>T|p.Asp125Asp|425/716|375/462|125/153||,T|downstream_gene_variant|MODIFIER|VAMP5|VAMP5|transcript|NM_006634.2|protein_coding||c.*3994C>T|||||3763|,T|downstream_gene_variant|MODIFIER|TMEM150A|TMEM150A|transcript|NM_001031738.2|protein_coding||c.*1925G>A|||||1396|,T|downstream_gene_variant|MODIFIER|TMEM150A|TMEM150A|transcript|NR_033179.1|pseudogene||n.*1396G>A|||||1396|	GT:AD:DP:GQ:PL	0/1:33,31:64:99:786,0,1085
chr2	85600891	rs6733550	T	G	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.765;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6733550;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|USP39|USP39|transcript|NR_046347.1|pseudogene||n.-1951T>G|||||1951|,G|downstream_gene_variant|MODIFIER|RNF181|RNF181|transcript|NM_016494.3|protein_coding||c.*3387T>G|||||3183|,G|downstream_gene_variant|MODIFIER|C2orf68|C2orf68|transcript|NM_001013649.3|protein_coding||c.*8054A>C|||||4362|,G|intron_variant|MODIFIER|TMEM150A|TMEM150A|transcript|NM_001031738.2|protein_coding|4/7|c.200+130A>C||||||,G|intron_variant|MODIFIER|TMEM150A|TMEM150A|transcript|NR_033179.1|pseudogene|4/6|n.409+130A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2395;p3_1000G_AF=0.478235;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=21670;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85828014;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:167,0,201
chr2	85621624	rs1304209116;rs35865728;rs538142968;rs796646596	CT	C	470.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.23;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=-0.302;SOR=1.528;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35865728;dbSNPBuildID=126,151,142,146;ANN=C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256725.1|protein_coding|3/13|c.433+60delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|USP39|USP39|transcript|NR_046347.1|pseudogene|3/12|n.405+60delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256727.1|protein_coding|3/12|c.199+60delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256728.1|protein_coding|2/11|c.105-1987delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256726.1|protein_coding|3/11|c.433+60delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_006590.3|protein_coding|3/12|c.433+60delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,17:18:42:461,42,0
chr2	85635993	rs879016710	GTT	G	268.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.38;SOR=1.863;DEL;HET;VARTYPE=DEL;dbSNPBuildID=147;ANN=G|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256725.1|protein_coding|6/13|c.950-58_950-57delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|USP39|USP39|transcript|NR_046347.1|pseudogene|6/12|n.942-58_942-57delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256727.1|protein_coding|6/12|c.716-58_716-57delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256728.1|protein_coding|5/11|c.641-58_641-57delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256726.1|protein_coding|6/11|c.950-58_950-57delTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|USP39|USP39|transcript|NM_006590.3|protein_coding|6/12|c.950-58_950-57delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:0|1:85635993_GTT_G:306,0,1168
chr2	85635996	rs757726060	T	C	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=4.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.25;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256725.1|protein_coding|6/13|c.950-57T>C||||||,C|intron_variant|MODIFIER|USP39|USP39|transcript|NR_046347.1|pseudogene|6/12|n.942-57T>C||||||,C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256727.1|protein_coding|6/12|c.716-57T>C||||||,C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256728.1|protein_coding|5/11|c.641-57T>C||||||,C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256726.1|protein_coding|6/11|c.950-57T>C||||||,C|intron_variant|MODIFIER|USP39|USP39|transcript|NM_006590.3|protein_coding|6/12|c.950-57T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:0|1:85635993_GTT_G:306,0,1168
chr2	85635997	rs201820696;~rs72294727	AAG	A	268.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.188;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=4.359;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;SOR=1.863;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201820696;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256725.1|protein_coding|6/13|c.950-55_950-54delAG||||||,A|intron_variant|MODIFIER|USP39|USP39|transcript|NR_046347.1|pseudogene|6/12|n.942-55_942-54delAG||||||,A|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256727.1|protein_coding|6/12|c.716-55_716-54delAG||||||,A|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256728.1|protein_coding|5/11|c.641-55_641-54delAG||||||,A|intron_variant|MODIFIER|USP39|USP39|transcript|NM_001256726.1|protein_coding|6/11|c.950-55_950-54delAG||||||,A|intron_variant|MODIFIER|USP39|USP39|transcript|NM_006590.3|protein_coding|6/12|c.950-55_950-54delAG||||||;ESP6500_AA_AC=303,3961;ESP6500_AA_GTC=14,275,1843;ESP6500_CDS_SIZES=NM_006590.3:1698,NM_001256728.1:1389,NM_001256727.1:1464,NM_001256726.1:1467,NM_001256725.1:1698;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=136;ESP6500_EA_AC=633,7621;ESP6500_EA_GTC=34,565,3528;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006590.3:intron,NM_001256728.1:intron,NM_001256727.1:intron,NM_001256726.1:intron,NM_001256725.1:intron;ESP6500_GL=USP39;ESP6500_GRCh38_POSITION=2:85635997;ESP6500_GTC=48,840,5371;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006590.3:c.950-55_950-54del2,NM_001256728.1:c.641-55_641-54del2,NM_001256727.1:c.716-55_716-54del2,NM_001256726.1:c.950-55_950-54del2,NM_001256725.1:c.950-55_950-54del2;ESP6500_MAF=7.669,7.106,7.4772;ESP6500_TAC=936,11582	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:0|1:85635993_GTT_G:306,0,1168
chr2	85663648	rs893159;263205	T	G	1243.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs893159;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SFTPB|SFTPB|transcript|NM_000542.3|protein_coding|8/11|c.892+16A>C||||||,G|intron_variant|MODIFIER|SFTPB|SFTPB|transcript|NM_198843.2|protein_coding|8/11|c.892+16A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4882;p3_1000G_AF=0.97484;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=16614;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85890771;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4317,79;ESP6500_AA_GTC=2123,71,4;ESP6500_CDS_SIZES=NM_198843.2:1182,NM_000542.3:1182;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=23;ESP6500_EA_AC=7848,750;ESP6500_EA_GTC=3578,692,29;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198843.2:intron,NM_000542.3:intron;ESP6500_GL=SFTPB;ESP6500_GRCh38_POSITION=2:85663648;ESP6500_GTC=5701,763,33;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_198843.2:c.892+16A>C,NM_000542.3:c.892+16A>C;ESP6500_MAF=8.723,1.7971,6.3799;ESP6500_TAC=12165,829;CLINVAR_ALLELEID=250817;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.85663648T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SFTPB:6439;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=893159	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1272,105,0
chr2	85666493	rs147140768;rs59023726	CTG	C	269.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.97;SOR=4.804;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs147140768,rs59023726;dbSNPBuildID=134,129;ANN=C|intron_variant|MODIFIER|SFTPB|SFTPB|transcript|NM_000542.3|protein_coding|5/11|c.429+122_429+123delCA||||||,C|intron_variant|MODIFIER|SFTPB|SFTPB|transcript|NM_198843.2|protein_coding|5/11|c.429+122_429+123delCA||||||	GT:AD:DP:GQ:PL	1/1:0,10:10:30:307,30,0
chr2	85668215	rs2077079;165208	T	G	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.17;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2077079;dbSNPBuildID=96;ANN=G|missense_variant|MODERATE|SFTPB|SFTPB|transcript|NM_000542.3|protein_coding|2/12|c.5A>C|p.His2Pro|105/3667|5/1182|2/393||,G|missense_variant|MODERATE|SFTPB|SFTPB|transcript|NM_198843.2|protein_coding|2/12|c.5A>C|p.His2Pro|105/2840|5/1182|2/393||;p3_1000G_AA=G|||;p3_1000G_AC=2096;p3_1000G_AF=0.41853;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=17894;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.3757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85895338;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4438;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1343,2545;ESP6500_AA_GTC=252,839,853;ESP6500_CDS_SIZES=NM_198843.2:1182,NM_000542.3:1182;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=26;ESP6500_EA_AC=2642,4820;ESP6500_EA_GTC=505,1632,1594;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198843.2:missense,NM_000542.3:missense;ESP6500_GL=SFTPB;ESP6500_GRCh38_POSITION=2:85668215;ESP6500_GS=77,77;ESP6500_GTC=757,2471,2447;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_198843.2:c.5A>C,NM_000542.3:c.5A>C;ESP6500_HGVS_PROTEIN_VAR=NM_198843.2:p.(H2P),NM_000542.3:p.(H2P);ESP6500_MAF=35.4061,34.5422,35.1101;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=3985,7365;CLINVAR_AF_ESP=0.3511;CLINVAR_AF_EXAC=0.42543;CLINVAR_AF_TGP=0.4185;CLINVAR_ALLELEID=173675;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239432;CLINVAR_CLNDN=not_specified|Pulmonary_Surfactant_Metabolism_Dysfunction,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.85668215T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25189;CLINVAR_GENEINFO=SFTPB:6439;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2077079	GT:AD:DP:GQ:PL	0/1:19,19:38:99:536,0,457
chr2	85694266	rs1866139	G	C	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.67;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.66;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1866139;dbSNPBuildID=92;ANN=C|upstream_gene_variant|MODIFIER|GNLY|GNLY|transcript|NM_001302758.1|protein_coding||c.-153G>C|||||25|,C|upstream_gene_variant|MODIFIER|GNLY|GNLY|transcript|NM_006433.4|protein_coding||c.-153G>C|||||25|,C|upstream_gene_variant|MODIFIER|GNLY|GNLY|transcript|NM_012483.3|protein_coding||c.-724G>C|||||25|,C|intergenic_region|MODIFIER|SFTPB-GNLY|SFTPB-GNLY|intergenic_region|SFTPB-GNLY|||n.85694266G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2716;p3_1000G_AF=0.542332;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=18278;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85921389;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:198,0,149
chr2	85694354	rs142960627	G	A	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.285;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=6.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.871;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142960627;dbSNPBuildID=134;ANN=A|5_prime_UTR_variant|MODIFIER|GNLY|GNLY|transcript|NM_001302758.1|protein_coding|1/6|c.-65G>A|||||65|,A|5_prime_UTR_variant|MODIFIER|GNLY|GNLY|transcript|NM_006433.4|protein_coding|1/5|c.-65G>A|||||65|,A|5_prime_UTR_variant|MODIFIER|GNLY|GNLY|transcript|NM_012483.3|protein_coding|1/6|c.-354G>A|||||636|;p3_1000G_AA=G|||;p3_1000G_AC=70;p3_1000G_AF=0.0139776;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=20975;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.0298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85921477;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=27,1357;ESP6500_AA_GTC=0,27,665;ESP6500_CDS_SIZES=NM_012483.2:393,NM_006433.3:438;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=32;ESP6500_EA_AC=113,3069;ESP6500_EA_GTC=2,109,1480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012483.2:utr-5,NM_006433.3:utr-5;ESP6500_GL=GNLY;ESP6500_GRCh38_POSITION=2:85694354;ESP6500_GTC=2,136,2145;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012483.2:c.-636G>A,NM_006433.3:c.-65G>A;ESP6500_MAF=3.5512,1.9509,3.0661;ESP6500_TAC=140,4426	GT:AD:DP:GQ:PL	0/1:12,14:26:99:352,0,361
chr2	85694869	rs2043760	T	C	26.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.51;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.32;SOR=0.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2043760;dbSNPBuildID=94;ANN=C|5_prime_UTR_variant|MODIFIER|GNLY|GNLY|transcript|NM_012483.3|protein_coding|2/6|c.-121T>C|||||121|,C|intron_variant|MODIFIER|GNLY|GNLY|transcript|NM_001302758.1|protein_coding|1/5|c.53-47T>C||||||,C|intron_variant|MODIFIER|GNLY|GNLY|transcript|NM_006433.4|protein_coding|1/4|c.52+399T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3094;p3_1000G_AF=0.617812;p3_1000G_AFR_AF=0.5318;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=19734;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.6561;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85921992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,3:21:55:55,0,476
chr2	85694998	rs113717357;~rs66637985	T	TA	87.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.736;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.27;ReadPosRankSum=0.257;SOR=0.412;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113717357;dbSNPBuildID=132;ANN=TA|intron_variant|MODIFIER|GNLY|GNLY|transcript|NM_001302758.1|protein_coding|2/5|c.133+9dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|GNLY|GNLY|transcript|NM_006433.4|protein_coding|1/4|c.53-315dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|GNLY|GNLY|transcript|NM_012483.3|protein_coding|2/5|c.7+9dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAAAAAA|AAAAAAA|AAAAAAAA|insertion;p3_1000G_AC=1149;p3_1000G_AF=0.229433;p3_1000G_AFR_AF=0.6172;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=20731;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.0765;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85922121;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=INDEL;ESP6500_AA_AC=2025,1655;ESP6500_AA_GTC=575,875,390;ESP6500_CDS_SIZES=NM_012483.2:393,NM_006433.3:438;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=60;ESP6500_EA_AC=669,7245;ESP6500_EA_GTC=29,611,3317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012483.2:splice-5,NM_006433.3:intron;ESP6500_GL=GNLY;ESP6500_GRCh38_POSITION=2:85694998;ESP6500_GTC=604,1486,3707;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_012483.2:c.7+2_7+3insA,NM_006433.3:c.53-322_53-321insA;ESP6500_MAF=8.4534,44.9728,23.2362;ESP6500_TAC=2694,8900	GT:AD:DP:GQ:PL	0/1:9,5:14:99:125,0,227
chr2	85696186	rs75718542	A	C	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.78;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-0.037;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75718542;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|GNLY|GNLY|transcript|NM_001302758.1|protein_coding|4/5|c.336+130A>C||||||,C|intron_variant|MODIFIER|GNLY|GNLY|transcript|NM_006433.4|protein_coding|3/4|c.255+130A>C||||||,C|intron_variant|MODIFIER|GNLY|GNLY|transcript|NM_012483.3|protein_coding|4/5|c.210+130A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=269;p3_1000G_AF=0.0537141;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=18263;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0.0736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=85923309;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:258,0,253
chr2	85844270	rs2280316	G	C	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.809;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=0.448;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280316;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ST3GAL5|ST3GAL5|transcript|NM_003896.3|protein_coding|6/6|c.1008+126C>G||||||,C|intron_variant|MODIFIER|ST3GAL5|ST3GAL5|transcript|NM_001042437.1|protein_coding|6/6|c.939+126C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1758;p3_1000G_AF=0.351038;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=15421;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.2952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86071393;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:244,0,215
chr2	85848459	rs11694145	C	T	479.88	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.578;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.26;ReadPosRankSum=-0.886;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11694145;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ST3GAL5|ST3GAL5|transcript|NM_003896.3|protein_coding|3/6|c.319-255G>A||||||,T|intron_variant|MODIFIER|ST3GAL5|ST3GAL5|transcript|NM_001042437.1|protein_coding|3/6|c.250-255G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1484;p3_1000G_AF=0.296326;p3_1000G_AFR_AF=0.1959;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=17931;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.2525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86075582;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,17:19:16:508,0,16
chr2	85861188	rs1138484;130382	T	C	683.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.8;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=4.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.761;SOR=1.363;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1138484;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|ST3GAL5|ST3GAL5|transcript|NM_003896.3|protein_coding|3/7|c.311A>G|p.His104Arg|440/2382|311/1257|104/418||,C|missense_variant|MODERATE|ST3GAL5|ST3GAL5|transcript|NM_001042437.1|protein_coding|3/7|c.242A>G|p.His81Arg|295/2236|242/1188|81/395||;p3_1000G_AA=C|||;p3_1000G_AC=1047;p3_1000G_AF=0.209065;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=20921;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.1968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86088311;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=334,4072;ESP6500_AA_AGE=795.3+/-415.3;ESP6500_AA_GTC=17,300,1886;ESP6500_CDS_SIZES=NM_003896.3:1257,NM_001042437.1:1188;ESP6500_CG=5.0;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=111;ESP6500_EA_AC=1705,6895;ESP6500_EA_AGE=737.1+/-407.0;ESP6500_EA_GTC=173,1359,2768;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003896.3:missense,NM_001042437.1:missense;ESP6500_GL=ST3GAL5;ESP6500_GRCh38_POSITION=2:85861188;ESP6500_GS=29,29;ESP6500_GTC=190,1659,4654;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003896.3:c.311A>G,NM_001042437.1:c.242A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003896.3:p.(H104R),NM_001042437.1:p.(H81R);ESP6500_MAF=19.8256,7.5806,15.6774;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=2039,10967;CLINVAR_AF_ESP=0.1568;CLINVAR_AF_EXAC=0.22251;CLINVAR_AF_TGP=0.2091;CLINVAR_ALLELEID=135829;CLINVAR_CLNDISDB=MedGen:C1836824,OMIM:609056,Orphanet:ORPHA171714|MedGen:CN169374;CLINVAR_CLNDN=Amish_infantile_epilepsy_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.85861188T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25528|UniProtKB_(protein):Q9UNP4#VAR_025510;CLINVAR_GENEINFO=ST3GAL5:8869;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1138484	GT:AD:DP:GQ:PL	0/1:45,26:71:99:712,0,1108
chr2	85867563	rs62147538	C	T	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.709;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.108;SOR=0.209;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62147538;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ST3GAL5|ST3GAL5|transcript|NM_003896.3|protein_coding|1/6|c.83-4078G>A||||||,T|intron_variant|MODIFIER|ST3GAL5|ST3GAL5|transcript|NM_001042437.1|protein_coding|1/6|c.13+42G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1042;p3_1000G_AF=0.208067;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=17961;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86094686;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=293,3641;ESP6500_AA_GTC=14,265,1688;ESP6500_CDS_SIZES=NM_003896.3:1257,NM_001042437.1:1188;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=52;ESP6500_EA_AC=1638,6670;ESP6500_EA_GTC=169,1300,2685;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003896.3:intron,NM_001042437.1:intron;ESP6500_GL=ST3GAL5;ESP6500_GRCh38_POSITION=2:85867563;ESP6500_GTC=183,1565,4373;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003896.3:c.83-4078G>A,NM_001042437.1:c.13+42G>A;ESP6500_MAF=19.7159,7.4479,15.7736;ESP6500_TAC=1931,10311	GT:AD:DP:GQ:PL	0/1:9,14:23:99:339,0,237
chr2	86074980	rs3815840	A	G	1623.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3815840;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|12/33|c.1611+50T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4086;p3_1000G_AF=0.815895;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=18575;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86302103;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2989,965;ESP6500_AA_GTC=1138,713,126;ESP6500_CDS_SIZES=NM_015425.3:5163;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=11;ESP6500_EA_AC=7414,850;ESP6500_EA_GTC=3336,742,54;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015425.3:intron;ESP6500_GL=POLR1A;ESP6500_GRCh38_POSITION=2:86074980;ESP6500_GTC=4474,1455,180;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015425.3:c.1611+50T>C;ESP6500_MAF=10.2856,24.4057,14.8551;ESP6500_TAC=10403,1815	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1652,147,0
chr2	86077809	rs766990485	GCGCACACACACACACACACACA	G	789.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.98;SOR=2.2;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72166424;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|11/33|c.1380+28_1380+49delTGTGTGTGTGTGTGTGTGTGCG||||||	GT:AD:DP:GQ:PL	1/0:0,11:11:99:827,336,340
chr2	86077809	.	GCGCACACACACACACACACACA	GCACACA	789.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.98;SOR=2.2;DEL;HET;VARTYPE=DEL;ANN=GCACACA|intron_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|11/33|c.1380+33_1380+48delGTGTGTGTGTGTGTGC||||||	GT:AD:DP:GQ:PL	0/1:0,8:8:99:827,475,446
chr2	86078000	rs2288117	T	C	1759.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=0.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288117;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|10/33|c.1258-19A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4481;p3_1000G_AF=0.894768;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=18374;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.9344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86305123;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2910,758;ESP6500_AA_GTC=1164,582,88;ESP6500_CDS_SIZES=NM_015425.3:5163;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=7657,509;ESP6500_EA_GTC=3587,483,13;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015425.3:intron;ESP6500_GL=POLR1A;ESP6500_GRCh38_POSITION=2:86078000;ESP6500_GTC=4751,1065,101;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015425.3:c.1258-19A>G;ESP6500_MAF=6.2332,20.6652,10.7064;ESP6500_TAC=10567,1267	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1788,159,0
chr2	86082987	rs2288118	C	T	221.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288118;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|7/33|c.817+95G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3422;p3_1000G_AF=0.683307;p3_1000G_AFR_AF=0.407;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=18349;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86310110;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:250,24,0
chr2	86088403	rs2288119	T	C	534.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.17;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288119;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|6/33|c.730+163A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3600;p3_1000G_AF=0.71885;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=14683;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86315526;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8599;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:563,45,0
chr2	86088618	rs2288120	C	T	1915.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=0.933;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288120;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|6/34|c.678G>A|p.Thr226Thr|1057/8519|678/5163|226/1720||;p3_1000G_AA=C|||;p3_1000G_AC=3295;p3_1000G_AF=0.657947;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=19197;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.84;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86315741;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1716,2356;ESP6500_AA_GTC=334,1048,654;ESP6500_CDS_SIZES=NM_015425.3:5163;ESP6500_CG=-4.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=130;ESP6500_EA_AC=7089,1275;ESP6500_EA_GTC=2998,1093,91;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015425.3:coding-synonymous;ESP6500_GL=POLR1A;ESP6500_GRCh38_POSITION=2:86088618;ESP6500_GTC=3332,2141,745;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015425.3:c.678G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015425.3:p.(T226);ESP6500_MAF=15.2439,42.1415,29.1975;ESP6500_TAC=8805,3631	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1944,189,0
chr2	86089914	rs4832242	G	C	580.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832242;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|4/34|c.448C>G|p.Pro150Ala|827/8519|448/5163|150/1720||;p3_1000G_AA=C|||;p3_1000G_AC=3781;p3_1000G_AF=0.754992;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=20275;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.8698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86317037;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2200,1546;ESP6500_AA_GTC=639,922,312;ESP6500_CDS_SIZES=NM_015425.3:5163;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=113;ESP6500_EA_AC=7226,992;ESP6500_EA_GTC=3172,882,55;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015425.3:missense;ESP6500_GL=POLR1A;ESP6500_GRCh38_POSITION=2:86089914;ESP6500_GS=27;ESP6500_GTC=3811,1804,367;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015425.3:c.448C>G;ESP6500_HGVS_PROTEIN_VAR=NM_015425.3:p.(P150A);ESP6500_MAF=12.0711,41.2707,21.2136;ESP6500_PH=benign:0.009;ESP6500_TAC=9426,2538	GT:AD:DP:GQ:PL	1/1:0,16:16:48:609,48,0
chr2	86105686	rs4832245	G	A	2484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.668;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832245;dbSNPBuildID=111;ANN=A|upstream_gene_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding||c.-562G>A|||||496|,A|intron_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding|1/33|c.77+14C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3394;p3_1000G_AF=0.677716;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=18882;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.84;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86332809;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1905,1993;ESP6500_AA_GTC=465,975,509;ESP6500_CDS_SIZES=NM_015425.3:5163;ESP6500_CG=-0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=49;ESP6500_EA_AC=6973,1249;ESP6500_EA_GTC=2952,1069,90;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015425.3:intron;ESP6500_GL=POLR1A;ESP6500_GRCh38_POSITION=2:86105686;ESP6500_GTC=3417,2044,599;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015425.3:c.77+14C>T;ESP6500_MAF=15.191,48.8712,26.7492;ESP6500_TAC=8878,3242	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2513,243,0
chr2	86107076	rs2367201	G	A	724.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2367201;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding||c.-1300C>T|||||921|,A|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|1/23|c.104+725G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3440;p3_1000G_AF=0.686901;p3_1000G_AFR_AF=0.4191;p3_1000G_AMR_AF=0.83;p3_1000G_AN=5008;p3_1000G_DP=20781;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86334199;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:753,72,0
chr2	86108595	rs979940	G	A	235.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs979940;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|POLR1A|POLR1A|transcript|NM_015425.4|protein_coding||c.-2819C>T|||||2440|,A|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|3/23|c.194+59G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4415;p3_1000G_AF=0.881589;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=18065;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86335718;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1060,324;ESP6500_AA_GTC=407,246,39;ESP6500_CDS_SIZES=NM_017952.5:2070;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=54;ESP6500_EA_AC=2922,260;ESP6500_EA_GTC=1342,238,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017952.5:intron;ESP6500_GL=PTCD3;ESP6500_GRCh38_POSITION=2:86108595;ESP6500_GTC=1749,484,50;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017952.5:c.194+59G>A;ESP6500_MAF=8.171,23.4104,12.7902;ESP6500_TAC=3982,584	GT:AD:DP:GQ:PL	1/1:0,7:7:21:264,21,0
chr2	86116972	rs3764949	G	T	201.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.83;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3764949;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|5/23|c.310-83G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1658;p3_1000G_AF=0.33107;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=17420;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86344095;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:230,21,0
chr2	86117244	rs2059353	T	C	103.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2059353;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|6/23|c.414+85T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4472;p3_1000G_AF=0.892971;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=17226;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86344367;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:131,9,0
chr2	86121614	rs745868420	A	AT	27.74	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.661;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.63;ReadPosRankSum=-0.316;SOR=0.693;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=AT|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|8/23|c.654+31dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:12,5:17:65:65,0,282
chr2	86123541	rs1025104	A	G	564.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1025104;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|8/23|c.655-160A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2965;p3_1000G_AF=0.592053;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=20693;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86350664;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:593,42,0
chr2	86124887	rs4832250	G	T	233.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832250;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|9/23|c.717-108G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3827;p3_1000G_AF=0.764177;p3_1000G_AFR_AF=0.5446;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=18154;p3_1000G_EAS_AF=0.752;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86352010;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:262,21,0
chr2	86125662	rs4618054	G	A	786.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.92;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4618054;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|11/23|c.866-133G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2999;p3_1000G_AF=0.598842;p3_1000G_AFR_AF=0.1074;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=19443;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86352785;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:815,66,0
chr2	86125702	rs6740228	C	T	567.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6740228;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|11/23|c.866-93C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3396;p3_1000G_AF=0.678115;p3_1000G_AFR_AF=0.388;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=20057;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86352825;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:596,54,0
chr2	86132282	rs1559515	G	T	1180.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.28;SOR=2.362;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1559515;dbSNPBuildID=88;ANN=T|upstream_gene_variant|MODIFIER|SNORD94|SNORD94|transcript|NR_004378.1|pseudogene||n.-3588G>T|||||3588|,T|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|16/23|c.1267-36G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3396;p3_1000G_AF=0.678115;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=18125;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86359405;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2051,2355;ESP6500_AA_AGE=565.8+/-381.8;ESP6500_AA_GTC=470,1111,622;ESP6500_CDS_SIZES=NM_017952.5:2070;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=92;ESP6500_EA_AC=7274,1326;ESP6500_EA_AGE=756.6+/-407.5;ESP6500_EA_GTC=3070,1134,96;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017952.5:intron;ESP6500_GL=PTCD3;ESP6500_GRCh38_POSITION=2:86132282;ESP6500_GTC=3540,2245,718;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_017952.5:c.1267-36G>T;ESP6500_MAF=15.4186,46.5502,28.3023;ESP6500_TAC=9325,3681	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1209,117,0
chr2	86135081	rs7606421	C	T	307.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7606421;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|SNORD94|SNORD94|transcript|NR_004378.1|pseudogene||n.-789C>T|||||789|,T|intron_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|21/23|c.1778+94C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3406;p3_1000G_AF=0.680112;p3_1000G_AFR_AF=0.3933;p3_1000G_AMR_AF=0.83;p3_1000G_AN=5008;p3_1000G_DP=20457;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86362204;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:336,30,0
chr2	86137583	rs397985198;rs398080425;rs56274257	TG	T	1745.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=1.27;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56274257;dbSNPBuildID=132,138,138;ANN=T|3_prime_UTR_variant|MODIFIER|PTCD3|PTCD3|transcript|NM_017952.5|protein_coding|24/24|c.*27delG|||||27|INFO_REALIGN_3_PRIME,T|downstream_gene_variant|MODIFIER|SNORD94|SNORD94|transcript|NR_004378.1|pseudogene||n.*1578delG|||||1578|;p3_1000G_AA=GG|GGG|GG|insertion;p3_1000G_AC=4460;p3_1000G_AF=0.890575;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=21798;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86364706;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=INDEL;ESP6500_AA_AC=3381,885;ESP6500_AA_GTC=1347,687,99;ESP6500_CDS_SIZES=NM_017952.5:2070;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=55;ESP6500_EA_AC=7591,663;ESP6500_EA_GTC=3488,615,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017952.5:utr-3;ESP6500_GL=PTCD3;ESP6500_GRCh38_POSITION=2:86137583;ESP6500_GTC=4835,1302,123;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_017952.5:c.*25del1;ESP6500_MAF=8.0325,20.7454,12.3642;ESP6500_TAC=10972,1548	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1783,150,0
chr2	86158605	rs1131071	C	T	595.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1131071;dbSNPBuildID=130;ANN=T|synonymous_variant|LOW|IMMT|IMMT|transcript|NM_006839.2|protein_coding|10/15|c.1149G>A|p.Gly383Gly|1537/3001|1149/2277|383/758||,T|synonymous_variant|LOW|IMMT|IMMT|transcript|NM_001100169.1|protein_coding|10/15|c.1146G>A|p.Gly382Gly|1534/2998|1146/2274|382/757||,T|synonymous_variant|LOW|IMMT|IMMT|transcript|NM_001100170.1|protein_coding|10/15|c.1116G>A|p.Gly372Gly|1504/2968|1116/2244|372/747||;p3_1000G_AA=C|||;p3_1000G_AC=955;p3_1000G_AF=0.190695;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=19362;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.1153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86385728;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=150,3620;ESP6500_AA_GTC=1,148,1736;ESP6500_CDS_SIZES=NM_006839.2:2277,NM_001100170.1:2244,NM_001100169.1:2274;ESP6500_CG=-3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=73;ESP6500_EA_AC=865,7359;ESP6500_EA_GTC=46,773,3293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006839.2:coding-synonymous,NM_001100170.1:coding-synonymous,NM_001100169.1:coding-synonymous;ESP6500_GL=IMMT;ESP6500_GRCh38_POSITION=2:86158605;ESP6500_GTC=47,921,5029;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006839.2:c.1149G>A,NM_001100170.1:c.1116G>A,NM_001100169.1:c.1146G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006839.2:p.(G383),NM_001100170.1:p.(G372),NM_001100169.1:p.(G382);ESP6500_MAF=10.518,3.9788,8.4626;ESP6500_TAC=1015,10979	GT:AD:DP:GQ:PL	1/1:0,21:21:63:624,63,0
chr2	86158763	rs6739460	A	G	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.73;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6739460;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|IMMT|IMMT|transcript|NM_006839.2|protein_coding|9/14|c.1033-42T>C||||||,G|intron_variant|MODIFIER|IMMT|IMMT|transcript|NM_001100169.1|protein_coding|9/14|c.1030-42T>C||||||,G|intron_variant|MODIFIER|IMMT|IMMT|transcript|NM_001100170.1|protein_coding|9/14|c.1000-42T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=19420;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9583;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86385886;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9652;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3460,264;ESP6500_AA_GTC=1608,244,10;ESP6500_CDS_SIZES=NM_006839.2:2277,NM_001100170.1:2244,NM_001100169.1:2274;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=27;ESP6500_EA_AC=7926,266;ESP6500_EA_GTC=3832,262,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006839.2:intron,NM_001100170.1:intron,NM_001100169.1:intron;ESP6500_GL=IMMT;ESP6500_GRCh38_POSITION=2:86158763;ESP6500_GTC=5440,506,12;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006839.2:c.1033-42T>C,NM_001100170.1:c.1000-42T>C,NM_001100169.1:c.1030-42T>C;ESP6500_MAF=3.2471,7.0892,4.4478;ESP6500_TAC=11386,530	GT:AD:DP:GQ:PL	1/1:0,12:12:36:465,36,0
chr2	86173701	rs1050301	G	A	512.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1050301;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|IMMT|IMMT|transcript|NM_006839.2|protein_coding|4/15|c.370C>T|p.Pro124Ser|758/3001|370/2277|124/758||,A|missense_variant|MODERATE|IMMT|IMMT|transcript|NM_001100169.1|protein_coding|4/15|c.370C>T|p.Pro124Ser|758/2998|370/2274|124/757||,A|missense_variant|MODERATE|IMMT|IMMT|transcript|NM_001100170.1|protein_coding|4/15|c.370C>T|p.Pro124Ser|758/2968|370/2244|124/747||;p3_1000G_AA=G|||;p3_1000G_AC=1649;p3_1000G_AF=0.329273;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=16353;p3_1000G_EAS_AF=0.5069;p3_1000G_EUR_AF=0.3628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86400824;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=331,3325;ESP6500_AA_GTC=11,309,1508;ESP6500_CDS_SIZES=NM_006839.2:2277,NM_001100170.1:2244,NM_001100169.1:2274;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=127;ESP6500_EA_AC=2750,5406;ESP6500_EA_GTC=456,1838,1784;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006839.2:missense,NM_001100170.1:missense,NM_001100169.1:missense;ESP6500_GL=IMMT;ESP6500_GRCh38_POSITION=2:86173701;ESP6500_GS=74,74,74;ESP6500_GTC=467,2147,3292;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006839.2:c.370C>T,NM_001100170.1:c.370C>T,NM_001100169.1:c.370C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006839.2:p.(P124S),NM_001100170.1:p.(P124S),NM_001100169.1:p.(P124S);ESP6500_MAF=33.7175,9.0536,26.0836;ESP6500_PH=possibly-damaging:0.95,possibly-damaging:0.95,possibly-damaging:0.95;ESP6500_TAC=3081,8731	GT:AD:DP:GQ:PL	1/1:0,17:17:51:541,51,0
chr2	86210428	rs7565645	T	G	244.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.2;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7565645;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding||c.*6672A>C|||||3569|,G|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding||c.*6672A>C|||||3569|,G|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding||c.*6611A>C|||||3569|,G|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding||c.*6672A>C|||||3569|,G|intron_variant|MODIFIER|MRPL35|MRPL35|transcript|NM_016622.3|protein_coding|3/3|c.379-52T>G||||||,G|intron_variant|MODIFIER|MRPL35|MRPL35|transcript|NM_145644.2|protein_coding|3/4|c.379-52T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3821;p3_1000G_AF=0.762979;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=13780;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.9215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86437551;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=723,1029;ESP6500_AA_GTC=163,397,316;ESP6500_CDS_SIZES=NM_145644.2:513,NM_016622.3:567;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=13;ESP6500_EA_AC=3684,296;ESP6500_EA_GTC=1710,264,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145644.2:intron,NM_016622.3:intron;ESP6500_GL=MRPL35;ESP6500_GRCh38_POSITION=2:86210428;ESP6500_GTC=1873,661,332;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_145644.2:c.379-52T>G,NM_016622.3:c.379-52T>G;ESP6500_MAF=7.4372,41.2671,23.1158;ESP6500_TAC=4407,1325	GT:AD:DP:GQ:PL	1/1:0,9:9:27:273,27,0
chr2	86213595	rs11944	T	C	2146.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=1.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11944;dbSNPBuildID=52;ANN=C|downstream_gene_variant|MODIFIER|MRPL35|MRPL35|transcript|NM_016622.3|protein_coding||c.*2927T>C|||||241|,C|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding||c.*3505A>G|||||402|,C|downstream_gene_variant|MODIFIER|MRPL35|MRPL35|transcript|NM_145644.2|protein_coding||c.*1169T>C|||||241|,C|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding||c.*3505A>G|||||402|,C|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding||c.*3444A>G|||||402|,C|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding||c.*3505A>G|||||402|,C|intergenic_region|MODIFIER|MRPL35-REEP1|MRPL35-REEP1|intergenic_region|MRPL35-REEP1|||n.86213595T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1859;p3_1000G_AF=0.371206;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.5389;p3_1000G_AN=5008;p3_1000G_DP=17914;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.3917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86440718;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2175,192,0
chr2	86213840	rs4832028	G	A	770.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=3.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832028;dbSNPBuildID=111;ANN=A|downstream_gene_variant|MODIFIER|MRPL35|MRPL35|transcript|NM_016622.3|protein_coding||c.*3172G>A|||||486|,A|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding||c.*3260C>T|||||157|,A|downstream_gene_variant|MODIFIER|MRPL35|MRPL35|transcript|NM_145644.2|protein_coding||c.*1414G>A|||||486|,A|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding||c.*3260C>T|||||157|,A|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding||c.*3199C>T|||||157|,A|downstream_gene_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding||c.*3260C>T|||||157|,A|intergenic_region|MODIFIER|MRPL35-REEP1|MRPL35-REEP1|intergenic_region|MRPL35-REEP1|||n.86213840G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4425;p3_1000G_AF=0.883586;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=17933;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86440963;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:799,69,0
chr2	86251857	rs4832031	T	C	1513.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.64;SOR=2.56;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832031;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding|5/6|c.438+100A>G||||||,C|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding|4/5|c.336+100A>G||||||,C|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding|3/4|c.182+12108A>G||||||,C|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding|5/6|c.417+100A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2173;p3_1000G_AF=0.433906;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=19452;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86478980;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1542,135,0
chr2	86251912	rs12988844	A	G	2408.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.12;SOR=1.24;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12988844;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding|5/6|c.438+45T>C||||||,G|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding|4/5|c.336+45T>C||||||,G|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding|3/4|c.182+12053T>C||||||,G|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding|5/6|c.417+45T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2173;p3_1000G_AF=0.433906;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=19215;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86479035;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=737,3669;ESP6500_AA_AGE=302.1+/-287.2;ESP6500_AA_GTC=57,623,1523;ESP6500_CDS_SIZES=NM_022912.2:606,NM_001164732.1:432,NM_001164731.1:525,NM_001164730.1:627;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=97;ESP6500_EA_AC=4118,4482;ESP6500_EA_AGE=562.0+/-387.9;ESP6500_EA_GTC=993,2132,1175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022912.2:intron,NM_001164732.1:intron,NM_001164731.1:intron,NM_001164730.1:intron;ESP6500_GL=REEP1;ESP6500_GRCh38_POSITION=2:86251912;ESP6500_GTC=1050,2755,2698;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022912.2:c.417+45T>C,NM_001164732.1:c.182+12053T>C,NM_001164731.1:c.336+45T>C,NM_001164730.1:c.438+45T>C;ESP6500_MAF=47.8837,16.7272,37.3289;ESP6500_TAC=4855,8151	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2437,225,0
chr2	86252164	rs17438687	G	T	554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17438687;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding|4/6|c.325-94C>A||||||,T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding|3/5|c.223-94C>A||||||,T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding|3/4|c.182+11801C>A||||||,T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding|4/6|c.304-94C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2173;p3_1000G_AF=0.433906;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=21362;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86479287;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:583,51,0
chr2	86254712	rs2276625;130108	C	T	3774.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=128;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=1.317;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276625;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|REEP1|REEP1|transcript|NM_001164730.1|protein_coding|4/7|c.306G>A|p.Thr102Thr|313/3737|306/627|102/208||,T|synonymous_variant|LOW|REEP1|REEP1|transcript|NM_001164731.1|protein_coding|3/6|c.204G>A|p.Thr68Thr|356/3780|204/525|68/174||,T|synonymous_variant|LOW|REEP1|REEP1|transcript|NM_022912.2|protein_coding|4/7|c.285G>A|p.Thr95Thr|429/3853|285/606|95/201||,T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding|3/4|c.182+9253G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2147;p3_1000G_AF=0.428714;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=19312;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.4602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86481835;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1032,3374;ESP6500_AA_AGE=379.2+/-323.2;ESP6500_AA_GTC=104,824,1275;ESP6500_CDS_SIZES=NM_022912.2:606,NM_001164732.1:432,NM_001164731.1:525,NM_001164730.1:627;ESP6500_CG=-10.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=94;ESP6500_EA_AC=3804,4796;ESP6500_EA_AGE=537.9+/-383.3;ESP6500_EA_GTC=856,2092,1352;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022912.2:coding-synonymous,NM_001164732.1:intron,NM_001164731.1:coding-synonymous,NM_001164730.1:coding-synonymous;ESP6500_GL=REEP1;ESP6500_GRCh38_POSITION=2:86254712;ESP6500_GTC=960,2916,2627;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022912.2:c.285G>A,NM_001164732.1:c.182+9253G>A,NM_001164731.1:c.204G>A,NM_001164730.1:c.306G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022912.2:p.(T95),.,NM_001164731.1:p.(T68),NM_001164730.1:p.(T102);ESP6500_MAF=44.2326,23.4226,37.1828;ESP6500_TAC=4836,8170;CLINVAR_AF_ESP=0.3718;CLINVAR_AF_EXAC=0.46734;CLINVAR_AF_TGP=0.4287;CLINVAR_ALLELEID=135554;CLINVAR_CLNDISDB=MedGen:C1853247,OMIM:610250,Orphanet:ORPHA101011|MedGen:CN169374|MedGen:CN239430;CLINVAR_CLNDN=Spastic_paraplegia_31,_autosomal_dominant|not_specified|Spastic_paraplegia,_autosomal_dominant;CLINVAR_CLNHGVS=NC_000002.12:g.86254712C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:18209|Illumina_Clinical_Services_Laboratory,Illumina:560229;CLINVAR_GENEINFO=REEP1:65055;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2276625	GT:AD:DP:GQ:PL	1/1:0,128:128:99:3803,382,0
chr2	86264122	rs1863056	C	T	616.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=4.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1863056;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding|2/6|c.127-81G>A||||||,T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding|1/5|c.25-81G>A||||||,T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding|2/4|c.106-81G>A||||||,T|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding|2/6|c.106-81G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1914;p3_1000G_AF=0.382188;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=20516;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86491245;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:645,57,0
chr2	86282144	rs1863058	G	A	1177.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.04;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1863058;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding|2/6|c.126+26C>T||||||,A|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding|1/5|c.25-18103C>T||||||,A|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding|2/4|c.105+26C>T||||||,A|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding|2/6|c.105+26C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2030;p3_1000G_AF=0.405351;p3_1000G_AFR_AF=0.1082;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=19391;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86509267;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=808,3598;ESP6500_AA_AGE=323.7+/-298.2;ESP6500_AA_GTC=63,682,1458;ESP6500_CDS_SIZES=NM_022912.2:606,NM_001164732.1:432,NM_001164731.1:525,NM_001164730.1:627;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=179;ESP6500_EA_AC=3785,4815;ESP6500_EA_AGE=536.8+/-383.1;ESP6500_EA_GTC=845,2095,1360;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022912.2:intron,NM_001164732.1:intron,NM_001164731.1:intron,NM_001164730.1:intron;ESP6500_GL=REEP1;ESP6500_GRCh38_POSITION=2:86282144;ESP6500_GTC=908,2777,2818;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022912.2:c.105+26C>T,NM_001164732.1:c.105+26C>T,NM_001164731.1:c.25-18103C>T,NM_001164730.1:c.126+26C>T;ESP6500_MAF=44.0116,18.3386,35.3145;ESP6500_TAC=4593,8413	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1206,126,0
chr2	86282265	rs1863059	T	G	1066.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=2.621;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1863059;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164730.1|protein_coding|1/6|c.54-23A>C||||||,G|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164731.1|protein_coding|1/5|c.25-18224A>C||||||,G|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_001164732.1|protein_coding|1/4|c.33-23A>C||||||,G|intron_variant|MODIFIER|REEP1|REEP1|transcript|NM_022912.2|protein_coding|1/6|c.33-23A>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2924;p3_1000G_AF=0.583866;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=21009;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.496;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86509388;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2626,1780;ESP6500_AA_AGE=641.7+/-397.5;ESP6500_AA_GTC=782,1062,359;ESP6500_CDS_SIZES=NM_022912.2:606,NM_001164732.1:432,NM_001164731.1:525,NM_001164730.1:627;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=91;ESP6500_EA_AC=4114,4486;ESP6500_EA_AGE=563.2+/-388.1;ESP6500_EA_GTC=989,2136,1175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022912.2:intron,NM_001164732.1:intron,NM_001164731.1:intron,NM_001164730.1:intron;ESP6500_GL=REEP1;ESP6500_GRCh38_POSITION=2:86282265;ESP6500_GTC=1771,3198,1534;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_022912.2:c.33-23A>C,NM_001164732.1:c.33-23A>C,NM_001164731.1:c.25-18224A>C,NM_001164730.1:c.54-23A>C;ESP6500_MAF=47.8372,40.3995,48.1778;ESP6500_TAC=6740,6266	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1095,90,0
chr2	86455294	rs767439758	CT	C	29.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.25;ReadPosRankSum=-1.718;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|KDM3A|KDM3A|transcript|NM_001146688.1|protein_coding|5/25|c.556+122delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|KDM3A|KDM3A|transcript|NM_018433.5|protein_coding|5/25|c.556+122delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,4:7:39:67,0,39
chr2	86456519	rs2030259	A	G	390.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.91;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2030259;dbSNPBuildID=94;ANN=G|missense_variant|MODERATE|KDM3A|KDM3A|transcript|NM_001146688.1|protein_coding|6/26|c.634A>G|p.Ile212Val|692/4621|634/3966|212/1321||,G|missense_variant|MODERATE|KDM3A|KDM3A|transcript|NM_018433.5|protein_coding|6/26|c.634A>G|p.Ile212Val|961/4890|634/3966|212/1321||;p3_1000G_AA=G|||;p3_1000G_AC=4031;p3_1000G_AF=0.804912;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=13437;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.7594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86683642;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3952,454;ESP6500_AA_AGE=212.5+/-232.4;ESP6500_AA_GTC=1771,410,22;ESP6500_CDS_SIZES=NM_018433.5:3966,NM_001146688.1:3966;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=55;ESP6500_EA_AC=6476,2124;ESP6500_EA_AGE=363.5+/-333.2;ESP6500_EA_GTC=2452,1572,276;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018433.5:missense,NM_001146688.1:missense;ESP6500_GL=KDM3A;ESP6500_GRCh38_POSITION=2:86456519;ESP6500_GS=29,29;ESP6500_GTC=4223,1982,298;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018433.5:c.634A>G,NM_001146688.1:c.634A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018433.5:p.(I212V),NM_001146688.1:p.(I212V);ESP6500_MAF=24.6977,10.3041,19.8216;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10428,2578	GT:AD:DP:GQ:PL	1/1:0,14:14:42:419,42,0
chr2	86464127	rs12714187	G	A	1085.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12714187;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|KDM3A|KDM3A|transcript|NM_001146688.1|protein_coding|9/26|c.918G>A|p.Ala306Ala|976/4621|918/3966|306/1321||,A|synonymous_variant|LOW|KDM3A|KDM3A|transcript|NM_018433.5|protein_coding|9/26|c.918G>A|p.Ala306Ala|1245/4890|918/3966|306/1321||;p3_1000G_AA=A|||;p3_1000G_AC=4031;p3_1000G_AF=0.804912;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=14728;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.7594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86691250;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3954,452;ESP6500_AA_AGE=216.8+/-235.3;ESP6500_AA_GTC=1773,408,22;ESP6500_CDS_SIZES=NM_018433.5:3966,NM_001146688.1:3966;ESP6500_CG=1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=106;ESP6500_EA_AC=6472,2128;ESP6500_EA_AGE=366.6+/-334.4;ESP6500_EA_GTC=2448,1576,276;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018433.5:coding-synonymous,NM_001146688.1:coding-synonymous;ESP6500_GL=KDM3A;ESP6500_GRCh38_POSITION=2:86464127;ESP6500_GTC=4221,1984,298;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018433.5:c.918G>A,NM_001146688.1:c.918G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018433.5:p.(A306),NM_001146688.1:p.(A306);ESP6500_MAF=24.7442,10.2587,19.837;ESP6500_TAC=10426,2580	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1114,114,0
chr2	86474701	rs369518183	T	TTTG	25.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.854;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=0;SOR=0.02;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=TTTG|intron_variant|MODIFIER|KDM3A|KDM3A|transcript|NM_001146688.1|protein_coding|11/25|c.1725-74_1725-73insTGT||||||INFO_REALIGN_3_PRIME,TTTG|intron_variant|MODIFIER|KDM3A|KDM3A|transcript|NM_018433.5|protein_coding|11/25|c.1725-74_1725-73insTGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2252;p3_1000G_AF=0.449681;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=14744;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86701824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,2:8:63:63,0,275
chr2	86474702	rs201454380	TGTGTG	T	237.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=6.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=-0.282;SOR=4.174;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201454380;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|KDM3A|KDM3A|transcript|NM_001146688.1|protein_coding|11/25|c.1725-73_1725-69delGTGTG||||||,T|intron_variant|MODIFIER|KDM3A|KDM3A|transcript|NM_018433.5|protein_coding|11/25|c.1725-73_1725-69delGTGTG||||||	GT:AD:DP:GQ:PL	0/1:2,7:9:63:275,0,63
chr2	86480381	rs4832290	T	C	3584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=1.368;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832290;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|KDM3A|KDM3A|transcript|NM_001146688.1|protein_coding|16/25|c.2512+19T>C||||||,C|intron_variant|MODIFIER|KDM3A|KDM3A|transcript|NM_018433.5|protein_coding|16/25|c.2512+19T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3982;p3_1000G_AF=0.795128;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=20226;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86707504;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3731,675;ESP6500_AA_AGE=277.5+/-273.7;ESP6500_AA_GTC=1580,571,52;ESP6500_CDS_SIZES=NM_018433.5:3966,NM_001146688.1:3966;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=87;ESP6500_EA_AC=6629,1971;ESP6500_EA_AGE=337.4+/-322.3;ESP6500_EA_GTC=2569,1491,240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018433.5:intron,NM_001146688.1:intron;ESP6500_GL=KDM3A;ESP6500_GRCh38_POSITION=2:86480381;ESP6500_GTC=4149,2062,292;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018433.5:c.2512+19T>C,NM_001146688.1:c.2512+19T>C;ESP6500_MAF=22.9186,15.32,20.3445;ESP6500_TAC=10360,2646	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3613,360,0
chr2	86510526	rs966477	G	A	1111.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=2.115;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs966477;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CHMP3|CHMP3|transcript|NM_016079.3|protein_coding|3/5|c.287-47C>T||||||,A|intron_variant|MODIFIER|RNF103-CHMP3|RNF103-CHMP3|transcript|NM_001198954.1|protein_coding|5/7|c.374-47C>T||||||,A|intron_variant|MODIFIER|CHMP3|CHMP3|transcript|NM_001005753.2|protein_coding|2/4|c.89-47C>T||||||,A|intron_variant|MODIFIER|CHMP3|CHMP3|transcript|NM_001193517.1|protein_coding|3/5|c.217-97C>T||||||,A|intron_variant|MODIFIER|CHMP3|CHMP3|transcript|NR_036454.1|pseudogene|1/3|n.195-47C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3362;p3_1000G_AF=0.671326;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=19255;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.6282;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86737649;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2513,1893;ESP6500_AA_AGE=543.7+/-376.3;ESP6500_AA_GTC=723,1067,413;ESP6500_CDS_SIZES=NM_016079.3:669,NM_001198954.1:756,NM_001193517.1:549,NM_001005753.2:471;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=46;ESP6500_EA_AC=5210,3390;ESP6500_EA_AGE=501.1+/-375.4;ESP6500_EA_GTC=1579,2052,669;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016079.3:intron,NM_001198954.1:intron,NM_001193517.1:intron,NM_001005753.2:intron;ESP6500_GL=CHMP3,RNF103-CHMP3;ESP6500_GRCh38_POSITION=2:86510526;ESP6500_GTC=2302,3119,1082;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016079.3:c.287-47C>T,NM_001198954.1:c.374-47C>T,NM_001193517.1:c.217-97C>T,NM_001005753.2:c.89-47C>T;ESP6500_MAF=39.4186,42.9641,40.6197;ESP6500_TAC=7723,5283	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1140,105,0
chr2	86529157	rs9284788	G	A	647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9284788;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|CHMP3|CHMP3|transcript|NM_016079.3|protein_coding|3/5|c.286+61C>T||||||,A|intron_variant|MODIFIER|RNF103-CHMP3|RNF103-CHMP3|transcript|NM_001198954.1|protein_coding|5/7|c.373+61C>T||||||,A|intron_variant|MODIFIER|CHMP3|CHMP3|transcript|NM_001005753.2|protein_coding|2/4|c.88+61C>T||||||,A|intron_variant|MODIFIER|CHMP3|CHMP3|transcript|NM_001193517.1|protein_coding|3/5|c.216+131C>T||||||,A|intron_variant|MODIFIER|CHMP3|CHMP3|transcript|NR_036454.1|pseudogene|1/3|n.195-18678C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2096;p3_1000G_AF=0.41853;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=19678;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.4592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86756280;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:676,63,0
chr2	86622899	rs396354	T	C	362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs396354;dbSNPBuildID=80;ANN=C|5_prime_UTR_variant|MODIFIER|RNF103|RNF103|transcript|NM_005667.3|protein_coding|1/4|c.-13A>G|||||13|,C|5_prime_UTR_variant|MODIFIER|RNF103|RNF103|transcript|NM_001198952.1|protein_coding|1/3|c.-13A>G|||||13|,C|intron_variant|MODIFIER|RNF103-CHMP3|RNF103-CHMP3|transcript|NM_001198954.1|protein_coding|2/7|c.-8-2430A>G||||||,C|intron_variant|MODIFIER|RNF103|RNF103|transcript|NM_001198951.1|protein_coding|1/4|c.48-72A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3767;p3_1000G_AF=0.752196;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=13261;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86850022;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3534,852;ESP6500_AA_GTC=1434,666,93;ESP6500_CDS_SIZES=NM_005667.3:2058,NM_001198954.1:756,NM_001198952.1:369,NM_001198951.1:2046;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=22;ESP6500_EA_AC=6234,2356;ESP6500_EA_GTC=2288,1658,349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005667.3:utr-5,NM_001198954.1:intron,NM_001198952.1:utr-5,NM_001198951.1:intron;ESP6500_GL=RNF103,RNF103-CHMP3;ESP6500_GRCh38_POSITION=2:86622899;ESP6500_GTC=3722,2324,442;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005667.3:c.-13A>G,NM_001198954.1:c.-2438A>G,NM_001198952.1:c.-13A>G,NM_001198951.1:c.48-72A>G;ESP6500_MAF=27.4272,19.4254,24.7226;ESP6500_TAC=9768,3208	GT:AD:DP:GQ:PL	1/1:0,10:10:30:391,30,0
chr2	86623919	.	A	G	19.81	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.141;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=-0.331;SOR=0.569;SNP;HET;VARTYPE=SNP;ANN=G|upstream_gene_variant|MODIFIER|RNF103|RNF103|transcript|NM_005667.3|protein_coding||c.-1033T>C|||||42|,G|upstream_gene_variant|MODIFIER|RNF103|RNF103|transcript|NM_001198951.1|protein_coding||c.-57T>C|||||42|,G|upstream_gene_variant|MODIFIER|RNF103|RNF103|transcript|NM_001198952.1|protein_coding||c.-1033T>C|||||42|,G|intron_variant|MODIFIER|RNF103-CHMP3|RNF103-CHMP3|transcript|NM_001198954.1|protein_coding|2/7|c.-8-3450T>C||||||	GT:AD:DP:GQ:PL	0/1:13,4:17:48:48,0,314
chr2	86720660	rs76239019	C	T	1559.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.86;QD=29.43;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76239019;dbSNPBuildID=131;ANN=T|5_prime_UTR_variant|MODIFIER|RMND5A|RMND5A|transcript|NM_022780.3|protein_coding|1/9|c.-8C>T|||||8|,T|intron_variant|MODIFIER|RNF103-CHMP3|RNF103-CHMP3|transcript|NM_001198954.1|protein_coding|1/7|c.-103+322G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=4135;p3_1000G_AF=0.825679;p3_1000G_AFR_AF=0.9145;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=8554;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86947783;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1588,159,0
chr2	86720827	rs74489582	G	C	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.564;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.65;MQRankSum=0.903;QD=10.88;ReadPosRankSum=0.15;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74489582;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|RNF103-CHMP3|RNF103-CHMP3|transcript|NM_001198954.1|protein_coding|1/7|c.-103+155C>G||||||,C|intron_variant|MODIFIER|RMND5A|RMND5A|transcript|NM_022780.3|protein_coding|1/8|c.142+18G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=278;p3_1000G_AF=0.0555112;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=8343;p3_1000G_EAS_AF=0.1111;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86947950;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP;ESP6500_AA_AC=12,4232;ESP6500_AA_GTC=0,12,2110;ESP6500_CDS_SIZES=NM_022780.3:1176,NM_001198954.1:756;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=11;ESP6500_EA_AC=83,8331;ESP6500_EA_GTC=0,83,4124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022780.3:intron,NM_001198954.1:intron;ESP6500_GL=RMND5A,RNF103-CHMP3;ESP6500_GRCh38_POSITION=2:86720827;ESP6500_GTC=0,95,6234;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_022780.3:c.142+18G>C,NM_001198954.1:c.-100366C>G;ESP6500_MAF=0.9865,0.2828,0.7505;ESP6500_TAC=95,12563	GT:AD:DP:GQ:PL	0/1:14,13:27:99:322,0,394
chr2	86741015	rs138849853	C	T	117.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.464;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.363;MLEAC=1;MLEAF=0.5;MQ=37.7;MQRankSum=-0.769;QD=2.94;ReadPosRankSum=0.256;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138849853;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|RMND5A|RMND5A|transcript|NM_022780.3|protein_coding|2/9|c.231C>T|p.Ser77Ser|608/6183|231/1176|77/391||;ESP6500_AA=A;ESP6500_AA_AC=37,4365;ESP6500_AA_GTC=0,37,2164;ESP6500_CDS_SIZES=NM_022780.3:1176;ESP6500_CG=-11.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=53;ESP6500_EA_AC=37,8551;ESP6500_EA_GTC=0,37,4257;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022780.3:coding-synonymous;ESP6500_GL=RMND5A;ESP6500_GRCh38_POSITION=2:86741015;ESP6500_GTC=0,74,6421;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022780.3:c.231C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022780.3:p.(S77);ESP6500_MAF=0.4308,0.8405,0.5697;ESP6500_TAC=74,12916	GT:AD:DP:GQ:PL	0/1:30,10:40:99:146,0,694
chr2	86751772	rs4832311	G	T	264.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4832311;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|RMND5A|RMND5A|transcript|NM_022780.3|protein_coding|2/8|c.286-124G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3659;p3_1000G_AF=0.730631;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=19041;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86978895;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:293,24,0
chr2	86751970	rs10186663	G	A	733.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10186663;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|RMND5A|RMND5A|transcript|NM_022780.3|protein_coding|3/9|c.360G>A|p.Glu120Glu|737/6183|360/1176|120/391||;p3_1000G_AA=G|||;p3_1000G_AC=3454;p3_1000G_AF=0.689696;p3_1000G_AFR_AF=0.615;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=16063;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86979093;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2898,1508;ESP6500_AA_AGE=674.7+/-403.0;ESP6500_AA_GTC=959,980,264;ESP6500_CDS_SIZES=NM_022780.3:1176;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=73;ESP6500_EA_AC=5592,3008;ESP6500_EA_AGE=664.5+/-402.2;ESP6500_EA_GTC=1799,1994,507;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022780.3:coding-synonymous;ESP6500_GL=RMND5A;ESP6500_GRCh38_POSITION=2:86751970;ESP6500_GTC=2758,2974,771;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022780.3:c.360G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022780.3:p.(E120);ESP6500_MAF=34.9767,34.2261,34.7224;ESP6500_TAC=8490,4516	GT:AD:DP:GQ:PL	1/1:0,23:23:69:762,69,0
chr2	86765214	rs3840984;rs397787623	T	TAA	160.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.14;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=-0.345;SOR=0.892;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3840984;dbSNPBuildID=132,138;ANN=TAA|intron_variant|MODIFIER|RMND5A|RMND5A|transcript|NM_022780.3|protein_coding|5/8|c.688+22_688+23insAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3507;p3_1000G_AF=0.70028;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=18899;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.6869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=86992337;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,5:9:99:198,0,161
chr2	86771536	rs561783917;rs56328788;rs71377101	CT	C	84.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.013;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.65;ReadPosRankSum=-1.186;SOR=1.981;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5832693,rs71377101,rs56328788;dbSNPBuildID=137,142,129;ANN=C|splice_region_variant&intron_variant|LOW|RMND5A|RMND5A|transcript|NM_022780.3|protein_coding|7/8|c.958-6delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,7:15:99:122,0,166
chr2	86788510	rs397771650;rs71378806	T	TGA	307.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.24;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=-0.301;SOR=1.14;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71378806;dbSNPBuildID=130,138;ANN=TGA|intron_variant|MODIFIER|CD8A|CD8A|transcript|NM_001145873.1|protein_coding|8/8|c.656+18_656+19dupTC||||||,TGA|intron_variant|MODIFIER|CD8A|CD8A|transcript|NM_001768.6|protein_coding|5/5|c.656+18_656+19dupTC||||||,TGA|intron_variant|MODIFIER|CD8A|CD8A|transcript|NM_171827.3|protein_coding|4/4|c.545+18_545+19dupTC||||||,TGA|intron_variant|MODIFIER|CD8A|CD8A|transcript|NR_027353.1|pseudogene|6/6|n.1131+18_1131+19dupTC||||||;p3_1000G_AC=4124;p3_1000G_AF=0.823482;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=15529;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.7982;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87015633;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=INDEL;ESP6500_AA_AC=3769,497;ESP6500_AA_GTC=1659,451,23;ESP6500_CDS_SIZES=NM_171827.3:597,NM_001768.6:708,NM_001145873.1:708;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=47;ESP6500_EA_AC=6659,1595;ESP6500_EA_GTC=2678,1303,146;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_171827.3:intron,NM_001768.6:intron,NM_001145873.1:intron;ESP6500_GL=CD8A;ESP6500_GRCh38_POSITION=2:86788510;ESP6500_GTC=4337,1754,169;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_171827.3:c.545+19_545+20insTC,NM_001768.6:c.656+19_656+20insTC,NM_001145873.1:c.656+19_656+20insTC;ESP6500_MAF=19.324,11.6503,16.7093;ESP6500_TAC=10428,2092	GT:AD:DP:GQ:PL	0/1:9,9:18:99:345,0,346
chr2	86822158	rs79219669	G	A	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=-0.431;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79219669;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172213.3|protein_coding|5/5|c.621-6440C>T||||||,A|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_001178100.1|protein_coding|3/3|c.494-6440C>T||||||,A|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172101.3|protein_coding|6/6|c.*8+163C>T||||||,A|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172102.3|protein_coding|4/4|c.531-6440C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=471;p3_1000G_AF=0.0940495;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=19331;p3_1000G_EAS_AF=0.0724;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87049281;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:67:138,0,67
chr2	86842256	rs4322832	G	A	621.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.3;QD=28.26;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4322832;dbSNPBuildID=111;ANN=A|3_prime_UTR_variant|MODIFIER|CD8B|CD8B|transcript|NM_004931.4|protein_coding|6/6|c.*51C>T|||||51|,A|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172213.3|protein_coding|5/5|c.620+2666C>T||||||,A|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_001178100.1|protein_coding|3/3|c.493+10741C>T||||||,A|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172101.3|protein_coding|5/6|c.620+2666C>T||||||,A|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172102.3|protein_coding|4/4|c.530+2666C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3479;p3_1000G_AF=0.694688;p3_1000G_AFR_AF=0.7216;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=21877;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87069379;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:650,66,0
chr2	86842308	rs4514875	C	T	826.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.71;QD=30.62;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4514875;dbSNPBuildID=111;ANN=T|stop_retained_variant|LOW|CD8B|CD8B|transcript|NM_004931.4|protein_coding|6/6|c.632G>A|p.Ter211Ter|691/1433|632/633|211/210||,T|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172213.3|protein_coding|5/5|c.620+2614G>A||||||,T|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_001178100.1|protein_coding|3/3|c.493+10689G>A||||||,T|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172101.3|protein_coding|5/6|c.620+2614G>A||||||,T|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172102.3|protein_coding|4/4|c.530+2614G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3478;p3_1000G_AF=0.694489;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=23322;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87069431;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:855,81,0
chr2	86846620	rs4971887	A	G	200.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.566;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.81;MQRankSum=-1.465;QD=28.69;ReadPosRankSum=-0.566;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4971887;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172213.3|protein_coding|4/5|c.583+64T>C||||||,G|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_001178100.1|protein_coding|3/3|c.493+6377T>C||||||,G|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172101.3|protein_coding|4/6|c.583+64T>C||||||,G|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172102.3|protein_coding|3/4|c.494-1662T>C||||||,G|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_004931.4|protein_coding|4/5|c.583+64T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3599;p3_1000G_AF=0.71865;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=14078;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87073743;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,6:7:21:229,0,21
chr2	86858475	rs28727404	T	C	220.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.36;QD=31.54;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28727404;dbSNPBuildID=125;ANN=C|upstream_gene_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene||n.-3350T>C|||||3350|,C|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172213.3|protein_coding|1/5|c.44-59A>G||||||,C|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_001178100.1|protein_coding|1/3|c.44-59A>G||||||,C|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172101.3|protein_coding|1/6|c.44-59A>G||||||,C|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_172102.3|protein_coding|1/4|c.44-59A>G||||||,C|intron_variant|MODIFIER|CD8B|CD8B|transcript|NM_004931.4|protein_coding|1/5|c.44-59A>G||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:249,21,0
chr2	86861841	rs62146888	A	G	151.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.77;QD=25.31;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62146888;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|CD8B|CD8B|transcript|NM_172213.3|protein_coding|1/6|c.25T>C|p.Leu9Leu|84/1061|25/732|9/243||,G|synonymous_variant|LOW|CD8B|CD8B|transcript|NM_001178100.1|protein_coding|1/4|c.25T>C|p.Leu9Leu|84/934|25/597|9/198||,G|synonymous_variant|LOW|CD8B|CD8B|transcript|NM_172101.3|protein_coding|1/7|c.25T>C|p.Leu9Leu|84/1115|25/666|9/221||,G|synonymous_variant|LOW|CD8B|CD8B|transcript|NM_172102.3|protein_coding|1/5|c.25T>C|p.Leu9Leu|84/971|25/642|9/213||,G|synonymous_variant|LOW|CD8B|CD8B|transcript|NM_004931.4|protein_coding|1/6|c.25T>C|p.Leu9Leu|84/1433|25/633|9/210||,G|non_coding_transcript_exon_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene|1/15|n.17A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2559;p3_1000G_AF=0.510982;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=7474;p3_1000G_EAS_AF=0.5427;p3_1000G_EUR_AF=0.4672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87088964;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:180,18,0
chr2	86873063	rs7562997	A	G	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.34;MQRankSum=0.475;QD=13.31;ReadPosRankSum=-0.508;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7562997;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene|2/14|n.336-124A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=951;p3_1000G_AF=0.189896;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=20343;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87100186;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:148,0,157
chr2	86873396	rs57298869	A	T	23.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=5.643;MLEAC=1;MLEAF=0.5;MQ=38.67;MQRankSum=-1.758;QD=2.16;ReadPosRankSum=-1.413;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150217372;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene|3/14|n.497+48A>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1069;p3_1000G_AF=0.213458;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=15881;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.166;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87100519;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:52:52,0,268
chr2	86878652	rs61526757	C	T	363.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.77;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.59;MQRankSum=0.937;QD=13.99;ReadPosRankSum=0.031;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138608684;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene|5/14|n.765+84C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=920;p3_1000G_AF=0.183706;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs138608684;p3_1000G_DP=16274;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87105775;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:392,0,403
chr2	86878763	rs57494924	T	G	620.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.41;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=4.119;MLEAC=1;MLEAF=0.5;MQ=58;MQRankSum=-1.029;QD=13.49;ReadPosRankSum=-0.868;SOR=1.188;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149291892;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene|5/14|n.766-10T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1064;p3_1000G_AF=0.21246;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs149291892;p3_1000G_DP=17331;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87105886;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,21:46:99:649,0,605
chr2	86878985	rs58443432	T	C	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.74;MQRankSum=0.334;QD=21.64;ReadPosRankSum=0.566;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58443432;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene|6/14|n.866+112T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1064;p3_1000G_AF=0.21246;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=17199;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87106108;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:92:223,0,92
chr2	86879334	rs35445522	A	G	22.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.81;MQRankSum=-1.645;QD=4.56;ReadPosRankSum=0.524;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142994732;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene|6/14|n.867-135A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1054;p3_1000G_AF=0.210463;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs142994732;p3_1000G_DP=14668;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0.163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87106457;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:51:51,0,92
chr2	86886761	rs145515662	C	T	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.663;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.632;MLEAC=1;MLEAF=0.5;MQ=43.61;MQRankSum=-3.936;QD=6.67;ReadPosRankSum=-1.02;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145515662;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|ANAPC1P1|ANAPC1P1|transcript|NR_037931.1|pseudogene|9/14|n.1169+32C>T||||||	GT:AD:DP:GQ:PL	0/1:17,8:25:99:195,0,566
chr2	86942193	rs76156574	T	G	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.329;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.05;MQRankSum=-2.047;QD=5.24;ReadPosRankSum=-0.081;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202230148;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|RGPD2|RGPD2|transcript|NM_001078170.2|protein_coding|1/22|c.73-9103T>G||||||,G|intron_variant|MODIFIER|RGPD1|RGPD1|transcript|NM_001024457.3|protein_coding|1/22|c.49-9103T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1391;p3_1000G_AF=0.277756;p3_1000G_AFR_AF=0.0734;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs202230148;p3_1000G_DP=10193;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.3161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87169316;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,8:24:99:154,0,401
chr2	86942332	rs1356346892	ACGGCCTCGACCTGGCCGGGCGG	A	79.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.98;MQRankSum=-1.96;QD=13.29;ReadPosRankSum=0.674;SOR=2.093;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|RGPD2|RGPD2|transcript|NM_001078170.2|protein_coding|1/22|c.73-8910_73-8889delCCTGGCCGGGCGGCGGCCTCGA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RGPD1|RGPD1|transcript|NM_001024457.3|protein_coding|1/22|c.49-8910_49-8889delCCTGGCCGGGCGGCGGCCTCGA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,3:6:99:117,0,112
chr2	86978065	rs1257502594	CTT	C	16.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.62;MQRankSum=-1.383;QD=4.21;ReadPosRankSum=-0.674;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|RGPD2|RGPD2|transcript|NM_001078170.2|protein_coding|17/22|c.2463+152_2463+153delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|RGPD1|RGPD1|transcript|NM_001024457.3|protein_coding|17/22|c.2439+152_2439+153delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,2:4:49:54,0,49
chr2	87016378	rs199986885	T	C	39.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=4.42;ReadPosRankSum=-0.105;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199986885;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|PLGLB1|PLGLB1|transcript|NM_001032392.2|protein_coding|3/4|c.216A>G|p.Gln72Gln|279/3010|216/291|72/96||,C|synonymous_variant|LOW|PLGLB2|PLGLB2|transcript|NM_002665.4|protein_coding|3/4|c.216A>G|p.Gln72Gln|283/3014|216/291|72/96||,C|downstream_gene_variant|MODIFIER|RGPD2|RGPD2|transcript|NM_001078170.2|protein_coding||c.*3831T>C|||||3640|,C|downstream_gene_variant|MODIFIER|RGPD1|RGPD1|transcript|NM_001024457.3|protein_coding||c.*3831T>C|||||2402|;p3_1000G_AA=T|||;p3_1000G_AC=1668;p3_1000G_AF=0.333067;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=17351;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3598;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87243501;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:68:68,0,164
chr2	87049688	rs34148650	T	C	242.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=31.26;MQRankSum=-0.651;QD=12.78;ReadPosRankSum=0.382;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200334386;dbSNPBuildID=126;ANN=C|non_coding_transcript_exon_variant|MODIFIER|LOC285074|LOC285074|transcript|NR_026846.1|pseudogene|4/11|n.933A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1521;p3_1000G_AF=0.303714;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=18370;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87276811;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:271,0,155
chr2	87075937	rs62144417	C	G	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.541;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=4.821;MLEAC=1;MLEAF=0.5;MQ=58.42;MQRankSum=0.765;QD=7.74;ReadPosRankSum=0.034;SOR=1.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79162177;dbSNPBuildID=129;ANN=G|non_coding_transcript_exon_variant|MODIFIER|LOC285074|LOC285074|transcript|NR_026846.1|pseudogene|1/11|n.477G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1471;p3_1000G_AF=0.29373;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=7949;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87303060;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,14:40:99:338,0,737
chr2	87118573	rs62144432	A	C	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.99;MQRankSum=0.598;QD=6.46;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62144432;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|LOC285074-MIR4771-1|LOC285074-MIR4771-1|intergenic_region|LOC285074-MIR4771-1|||n.87118573A>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1636;p3_1000G_AF=0.326677;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=15496;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.3419;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87345696;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:67:67,0,71
chr2	87128934	rs4019126	A	G	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=52.8;MQRankSum=-2.515;QD=22.2;ReadPosRankSum=0.48;SOR=3.126;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80344669;dbSNPBuildID=108;ANN=G|intergenic_region|MODIFIER|LOC285074-MIR4771-1|LOC285074-MIR4771-1|intergenic_region|LOC285074-MIR4771-1|||n.87128934A>G||||||	GT:AD:DP:GQ:PL	0/1:3,6:9:59:228,0,59
chr2	87144137	rs4047215	T	C	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.038;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.34;MQRankSum=0.799;QD=4.73;ReadPosRankSum=0.414;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199958413;dbSNPBuildID=108;ANN=C|intergenic_region|MODIFIER|LOC285074-MIR4771-1|LOC285074-MIR4771-1|intergenic_region|LOC285074-MIR4771-1|||n.87144137T>C||||||	GT:AD:DP:GQ:PL	0/1:8,4:12:85:85,0,207
chr2	87149821	rs6547711	G	A	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.019;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.41;MQRankSum=0.295;QD=14.13;ReadPosRankSum=0.696;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6547711;dbSNPBuildID=116;ANN=A|intergenic_region|MODIFIER|LOC285074-MIR4771-1|LOC285074-MIR4771-1|intergenic_region|LOC285074-MIR4771-1|||n.87149821G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2119;p3_1000G_AF=0.423123;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=23085;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.3678;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87376944;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,10:14:86:226,0,86
chr2	87180084	rs2306009	C	A	68.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=6.88;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201889792;dbSNPBuildID=100;ANN=A|intergenic_region|MODIFIER|LOC285074-MIR4771-1|LOC285074-MIR4771-1|intergenic_region|LOC285074-MIR4771-1|||n.87180084C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2372;p3_1000G_AF=0.473642;p3_1000G_AFR_AF=0.6634;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=16367;p3_1000G_EAS_AF=0.498;p3_1000G_EUR_AF=0.4205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87407207;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:97:97,0,161
chr2	87181158	rs2245238	T	G	96.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=28.33;QD=24.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs373956158;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|LOC285074-MIR4771-1|LOC285074-MIR4771-1|intergenic_region|LOC285074-MIR4771-1|||n.87181158T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2339;p3_1000G_AF=0.467053;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs373956158;p3_1000G_DP=8277;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.2823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=87408281;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:124,12,0
chr2	87818468	rs62140525	T	C	109.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=15.68;ReadPosRankSum=0.967;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202105354;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|RGPD1|RGPD1.2|transcript|NM_001024457.3.2|protein_coding|2/22|c.113+91A>G||||||,C|intron_variant|MODIFIER|RGPD2|RGPD2.2|transcript|NM_001078170.2.2|protein_coding|2/22|c.137+91A>G||||||	GT:AD:DP:GQ:PL	0/1:2,5:7:42:138,0,42
chr2	87973279	rs62138194	C	T	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.21;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=11.243;MLEAC=1;MLEAF=0.5;MQ=43.92;MQRankSum=1.93;QD=9.99;ReadPosRankSum=-0.317;SOR=0.577;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201020598;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|RGPD1|RGPD1.2|transcript|NM_001024457.3.2|protein_coding|1/22|c.48+12448G>A||||||	GT:AD:DP:GQ:PL	0/1:17,14:31:99:338,0,421
chr2	87989688	rs5014698	G	A	83.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=27.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5014698;dbSNPBuildID=119;ANN=A|upstream_gene_variant|MODIFIER|RGPD1|RGPD1.2|transcript|NM_001024457.3.2|protein_coding||c.-3914C>T|||||3898|,A|intergenic_region|MODIFIER|RGPD1-KRCC1|RGPD1.2-KRCC1|intergenic_region|RGPD1.2-KRCC1|||n.87989688G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=4551;p3_1000G_AF=0.908746;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=7653;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88289207;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:111,9,0
chr2	87989849	rs10209326	G	A	48.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10209326;dbSNPBuildID=119;ANN=A|upstream_gene_variant|MODIFIER|RGPD1|RGPD1.2|transcript|NM_001024457.3.2|protein_coding||c.-4075C>T|||||4059|,A|intergenic_region|MODIFIER|RGPD1-KRCC1|RGPD1.2-KRCC1|intergenic_region|RGPD1.2-KRCC1|||n.87989849G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=4583;p3_1000G_AF=0.915136;p3_1000G_AFR_AF=0.7844;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=19138;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88289368;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:76,6,0
chr2	88087884	rs1542088	C	A	2399.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=0.992;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1542088;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|SMYD1|SMYD1|transcript|NM_198274.3|protein_coding|3/10|c.337C>A|p.Arg113Arg|422/4429|337/1473|113/490||;p3_1000G_AA=C|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=15642;p3_1000G_EAS_AF=0.9097;p3_1000G_EUR_AF=0.506;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88387403;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2428,222,0
chr2	88108440	rs2970918	T	C	2725.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=86;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=1.259;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2970918;dbSNPBuildID=101;ANN=C|synonymous_variant|LOW|SMYD1|SMYD1|transcript|NM_198274.3|protein_coding|9/10|c.1215T>C|p.His405His|1300/4429|1215/1473|405/490||;p3_1000G_AA=t|||;p3_1000G_AC=1995;p3_1000G_AF=0.398363;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=18792;p3_1000G_EAS_AF=0.5278;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88407959;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=SNP;ESP6500_AA_AC=2016,2390;ESP6500_AA_AGE=563.2+/-381.1;ESP6500_AA_GTC=455,1106,642;ESP6500_CDS_SIZES=NM_198274.3:1473;ESP6500_CG=-7.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=120;ESP6500_EA_AC=1593,7007;ESP6500_EA_AGE=295.8+/-302.6;ESP6500_EA_GTC=148,1297,2855;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198274.3:coding-synonymous;ESP6500_GL=SMYD1;ESP6500_GRCh38_POSITION=2:88108440;ESP6500_GTC=603,2403,3497;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198274.3:c.1215T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198274.3:p.(H405);ESP6500_MAF=18.5233,45.7558,27.7487;ESP6500_TAC=3609,9397	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2754,258,0
chr2	88108653	rs2919858	A	G	1332.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.9;SOR=4.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2919858;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|SMYD1|SMYD1|transcript|NM_198274.3|protein_coding|9/9|c.1314+114A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=3884;p3_1000G_AF=0.775559;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=20796;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88408172;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1361,99,0
chr2	88110583	rs2289497	C	G	947.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=3.69;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289497;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|SMYD1|SMYD1|transcript|NM_198274.3|protein_coding|10/10|c.*71C>G|||||71|;p3_1000G_AA=G|||;p3_1000G_AC=3878;p3_1000G_AF=0.774361;p3_1000G_AFR_AF=0.8124;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=15904;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88410102;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8487;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:976,81,0
chr2	88112086	rs2919865	A	T	1248.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.38;SOR=1.105;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2919865;dbSNPBuildID=101;ANN=T|3_prime_UTR_variant|MODIFIER|SMYD1|SMYD1|transcript|NM_198274.3|protein_coding|10/10|c.*1574A>T|||||1574|;p3_1000G_AA=T|||;p3_1000G_AC=2181;p3_1000G_AF=0.435503;p3_1000G_AFR_AF=0.5749;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=17119;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88411605;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1277,131,0
chr2	88112274	rs2970888	C	A	289.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2970888;dbSNPBuildID=101;ANN=A|3_prime_UTR_variant|MODIFIER|SMYD1|SMYD1|transcript|NM_198274.3|protein_coding|10/10|c.*1762C>A|||||1762|;p3_1000G_AA=A|||;p3_1000G_AC=3966;p3_1000G_AF=0.791933;p3_1000G_AFR_AF=0.8759;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=20448;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88411793;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:318,27,0
chr2	88122893	rs2919867	G	A	331.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2919867;dbSNPBuildID=101;ANN=A|downstream_gene_variant|MODIFIER|FABP1|FABP1|transcript|NM_001443.2|protein_coding||c.*161C>T|||||96|,A|intergenic_region|MODIFIER|SMYD1-FABP1|SMYD1-FABP1|intergenic_region|SMYD1-FABP1|||n.88122893G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1443;p3_1000G_AF=0.288139;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=20300;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88422412;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:360,30,0
chr2	88123239	rs2197076	G	A	329.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2197076;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|FABP1|FABP1|transcript|NM_001443.2|protein_coding|3/3|c.334-135C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1445;p3_1000G_AF=0.288538;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=20026;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88422758;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:358,33,0
chr2	88173272	rs4129190	G	A	1670.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.1;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4129190;dbSNPBuildID=108;ANN=A|missense_variant|MODERATE|THNSL2|THNSL2|transcript|NM_018271.4|protein_coding|1/8|c.122G>A|p.Gly41Glu|134/1981|122/1455|41/484||,A|missense_variant|MODERATE|THNSL2|THNSL2|transcript|NM_001244676.1|protein_coding|2/9|c.122G>A|p.Gly41Glu|296/2165|122/1218|41/405||,A|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_001244678.1|protein_coding|1/5|c.-56-1977G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4349;p3_1000G_AF=0.868411;p3_1000G_AFR_AF=0.9145;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=16667;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.8797;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88472791;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4033,373;ESP6500_AA_AGE=188.8+/-215.1;ESP6500_AA_GTC=1849,335,19;ESP6500_CDS_SIZES=NM_018271.4:1455,NM_001244678.1:681,NM_001244676.1:1218;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=73;ESP6500_EA_AC=7366,1234;ESP6500_EA_AGE=248.9+/-276.4;ESP6500_EA_GTC=3155,1056,89;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018271.4:missense,NM_001244678.1:intron,NM_001244676.1:missense;ESP6500_GL=THNSL2;ESP6500_GRCh38_POSITION=2:88173272;ESP6500_GS=98,.,98;ESP6500_GTC=5004,1391,108;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018271.4:c.122G>A,NM_001244678.1:c.-2033G>A,NM_001244676.1:c.122G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018271.4:p.(G41E),.,NM_001244676.1:p.(G41E);ESP6500_MAF=14.3488,8.4657,12.3558;ESP6500_PH=benign:0.0,.,benign:0.0;ESP6500_TAC=11399,1607	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1699,147,0
chr2	88174851	rs2139100	A	G	911.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2139100;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_018271.4|protein_coding|2/7|c.418+18A>G||||||,G|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_001244676.1|protein_coding|3/8|c.418+18A>G||||||,G|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_001244678.1|protein_coding|1/5|c.-56-398A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4358;p3_1000G_AF=0.870208;p3_1000G_AFR_AF=0.9153;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=21649;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.8827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88474370;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4036,370;ESP6500_AA_AGE=187.8+/-214.3;ESP6500_AA_GTC=1852,332,19;ESP6500_CDS_SIZES=NM_018271.4:1455,NM_001244678.1:681,NM_001244676.1:1218;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=96;ESP6500_EA_AC=7383,1217;ESP6500_EA_AGE=245.7+/-274.4;ESP6500_EA_GTC=3173,1037,90;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018271.4:intron,NM_001244678.1:intron,NM_001244676.1:intron;ESP6500_GL=THNSL2;ESP6500_GRCh38_POSITION=2:88174851;ESP6500_GTC=5025,1369,109;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018271.4:c.418+18A>G,NM_001244678.1:c.-454A>G,NM_001244676.1:c.418+18A>G;ESP6500_MAF=14.1512,8.3976,12.2021;ESP6500_TAC=11419,1587	GT:AD:DP:GQ:PL	1/1:0,26:26:78:940,78,0
chr2	88185289	rs2292869	C	A	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.376;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.811;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292869;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_018271.4|protein_coding|6/7|c.1078-39C>A||||||,A|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_001244676.1|protein_coding|7/8|c.1078-262C>A||||||,A|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_001244678.1|protein_coding|5/5|c.604-609C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1126;p3_1000G_AF=0.22484;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=13806;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.1262;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88484808;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=111,4065;ESP6500_AA_GTC=2,107,1979;ESP6500_CDS_SIZES=NM_018271.4:1455,NM_001244678.1:681,NM_001244676.1:1218;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=33;ESP6500_EA_AC=1084,7344;ESP6500_EA_GTC=78,928,3208;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018271.4:intron,NM_001244678.1:intron,NM_001244676.1:intron;ESP6500_GL=THNSL2;ESP6500_GRCh38_POSITION=2:88185289;ESP6500_GTC=80,1035,5187;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018271.4:c.1078-39C>A,NM_001244678.1:c.604-609C>A,NM_001244676.1:c.1078-262C>A;ESP6500_MAF=12.8619,2.658,9.4811;ESP6500_TAC=1195,11409	GT:AD:DP:GQ:PL	0/1:8,11:19:99:270,0,241
chr2	88185873	rs1878810	G	C	5009.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=149;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=0.79;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1878810;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_018271.4|protein_coding|7/7|c.1230-25G>C||||||,C|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_001244676.1|protein_coding|8/8|c.*34-25G>C||||||,C|intron_variant|MODIFIER|THNSL2|THNSL2|transcript|NM_001244678.1|protein_coding|5/5|c.604-25G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4393;p3_1000G_AF=0.877196;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=16933;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.8618;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88485392;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3845,525;ESP6500_AA_GTC=1700,445,40;ESP6500_CDS_SIZES=NM_018271.4:1455,NM_001244678.1:681,NM_001244676.1:1218;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=13;ESP6500_EA_AC=7322,1226;ESP6500_EA_GTC=3151,1020,103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018271.4:intron,NM_001244678.1:intron,NM_001244676.1:intron;ESP6500_GL=THNSL2;ESP6500_GRCh38_POSITION=2:88185873;ESP6500_GTC=4851,1465,143;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018271.4:c.1230-25G>C,NM_001244678.1:c.604-25G>C,NM_001244676.1:c.*182G>C;ESP6500_MAF=14.3425,12.0137,13.5547;ESP6500_TAC=11167,1751	GT:AD:DP:GQ:PL	1/1:0,149:149:99:5038,447,0
chr2	88613755	rs867529;128987	G	C	778.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.81;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs867529;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|EIF2AK3|EIF2AK3|transcript|NM_004836.6|protein_coding|2/17|c.407C>G|p.Ser136Cys|709/4649|407/3351|136/1116||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|EIF2AK3|EIF2AK3|transcript|NM_001313915.1|protein_coding|2/17|c.-47C>G||||||,C|5_prime_UTR_variant|MODIFIER|EIF2AK3|EIF2AK3|transcript|NM_001313915.1|protein_coding|2/17|c.-47C>G|||||18107|;p3_1000G_AA=G|||;p3_1000G_AC=1405;p3_1000G_AF=0.280551;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=16061;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.2982;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88913273;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=256,4150;ESP6500_AA_AGE=145.4+/-180.2;ESP6500_AA_GTC=8,240,1955;ESP6500_CDS_SIZES=NM_004836.5:3351;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=114;ESP6500_EA_AC=2324,6276;ESP6500_EA_AGE=389.8+/-343.1;ESP6500_EA_GTC=313,1698,2289;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004836.5:missense;ESP6500_GL=EIF2AK3;ESP6500_GRCh38_POSITION=2:88613755;ESP6500_GS=112;ESP6500_GTC=321,1938,4244;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004836.5:c.407C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004836.5:p.(S136C);ESP6500_MAF=27.0233,5.8103,19.837;ESP6500_PH=benign:0.002;ESP6500_TAC=2580,10426;CLINVAR_AF_ESP=0.1984;CLINVAR_AF_EXAC=0.29828;CLINVAR_AF_TGP=0.2806;CLINVAR_ALLELEID=134434;CLINVAR_CLNDISDB=MedGen:C0432217,OMIM:226980,Orphanet:ORPHA1667,SNOMED_CT:254066006|MedGen:CN169374;CLINVAR_CLNDN=Wolcott-Rallison_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.88613755G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25321|UniProtKB_(protein):Q9NZJ5#VAR_011409;CLINVAR_GENEINFO=EIF2AK3:9451;CLINVAR_MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=867529	GT:AD:DP:GQ:PL	1/1:0,28:28:84:807,84,0
chr2	88627211	rs72416210;193295	CCAG	C	277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.29;SOR=0.941;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs72416210,rs144052332,rs67984940;dbSNPBuildID=135;ANN=C|conservative_inframe_deletion|MODERATE|EIF2AK3|EIF2AK3|transcript|NM_004836.6|protein_coding|1/17|c.61_63delCTG|p.Leu21del|365/4649|61/3351|21/1116||,C|upstream_gene_variant|MODIFIER|LOC101928403|LOC101928403|transcript|NR_135540.1|pseudogene||n.-617_-615delCAG|||||617|,C|upstream_gene_variant|MODIFIER|EIF2AK3|EIF2AK3|transcript|NM_001313915.1|protein_coding||c.-31566_-31564delCTG|||||2283|;p3_1000G_AC=3989;p3_1000G_AF=0.796526;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=8598;p3_1000G_EAS_AF=0.8472;p3_1000G_EUR_AF=0.7227;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=88926729;p3_1000G_GRCH37_REF=CCAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=190459;CLINVAR_CLNDISDB=MedGen:C0432217,OMIM:226980,Orphanet:ORPHA1667,SNOMED_CT:254066006|MedGen:CN169374;CLINVAR_CLNDN=Wolcott-Rallison_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.88627212_88627214delCAG;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498022;CLINVAR_GENEINFO=EIF2AK3:9451;CLINVAR_ORIGIN=1;CLINVAR_RS=72416210	GT:AD:DP:GQ:PL	1/1:0,7:7:21:315,21,0
chr2	88772705	rs72928624	C	T	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.101;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=10.843;MLEAC=1;MLEAF=0.5;MQ=41.88;MQRankSum=-4.101;QD=7.57;ReadPosRankSum=1.79;SOR=0.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72928624;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36BP2|ANKRD36BP2|transcript|NR_015424.1|pseudogene|1/16|n.296-268C>T||||||	GT:AD:DP:GQ:PL	0/1:9,8:17:99:157,0,330
chr2	88772764	rs79088456	C	G	105.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.408;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=7.402;MLEAC=1;MLEAF=0.5;MQ=40.41;MQRankSum=-3.561;QD=4.6;ReadPosRankSum=0.032;SOR=0.09;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113768929;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36BP2|ANKRD36BP2|transcript|NR_015424.1|pseudogene|1/16|n.296-209C>G||||||	GT:AD:DP:GQ:PL	0/1:15,8:23:99:134,0,531
chr2	88804572	rs112394335	T	C	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.362;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=57.15;MQRankSum=-2.362;QD=2.62;ReadPosRankSum=0.66;SOR=0.01;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112394335;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|ANKRD36BP2|ANKRD36BP2|transcript|NR_015424.1|pseudogene|14/16|n.1333+122T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:57:0|1:88804572_T_C:57,0,955
chr2	88804581	rs111985340	G	A	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.677;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=7.782;MLEAC=1;MLEAF=0.5;MQ=57.39;MQRankSum=-3.138;QD=2.15;ReadPosRankSum=1.32;SOR=0.008;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111985340;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ANKRD36BP2|ANKRD36BP2|transcript|NR_015424.1|pseudogene|14/16|n.1333+131G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,2:12:54:0|1:88804572_T_C:54,0,998
chr2	88804591	rs1303730856	A	G	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.287;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=56.86;MQRankSum=-2.287;QD=3.18;ReadPosRankSum=0.493;SOR=0.012;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|ANKRD36BP2|ANKRD36BP2|transcript|NR_015424.1|pseudogene|14/16|n.1333+141A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,2:10:60:0|1:88804572_T_C:60,0,845
chr2	88861557	rs113458930	C	G	9154.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=203;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=132;ANN=G|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.88861557C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4631;p3_1000G_AF=0.9247204;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=9567;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.9374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=89161069;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,202:202:99:1|1:88861557_C_G:9183,623,0
chr2	88861560	rs113539064;rs772203362	C	T	9141.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=204;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.71;SOR=1.236;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144,132;ANN=T|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.88861560C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4911;p3_1000G_AF=0.980631;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=9298;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.9533;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=89161072;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,203:203:99:1|1:88861557_C_G:9170,623,0
chr2	88862035	rs232222	G	A	856.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.358;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=3.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.452;SOR=1.337;SNP;HET;VARTYPE=SNP;dbSNPBuildID=79;ANN=A|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.88862035G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3073;p3_1000G_AF=0.613618;p3_1000G_AFR_AF=0.5166;p3_1000G_AMR_AF=0.5691999999999999;p3_1000G_AN=5008;p3_1000G_DP=7837;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_POS=89161547;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.7474000000000001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:47,35:82:99:885,0,1391
chr2	88931878	rs183809257	A	T	730.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0.912;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.538;SOR=0.861;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs183809257;dbSNPBuildID=135;ANN=T|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.88931878A>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=21;p3_1000G_AF=0.00419329;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=8320;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89231396;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,30:70:99:759,0,977
chr2	88966502	rs577522164	A	T	4001.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=129;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.92;QD=31.02;SOR=0.876;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.88966502A>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=5005;p3_1000G_AF=0.999400958;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=10339;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=1.0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=89266021;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,129:129:99:4030,386,0
chr2	89040287	rs1724229	G	A	657.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.721;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.46;MQRankSum=-2.055;QD=6.78;ReadPosRankSum=-1.328;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNPBuildID=89;ANN=A|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89040287G>A||||||	GT:AD:DP:GQ:PL	0/1:62,35:97:99:686,0,1555
chr2	89040479	rs1724230	G	A	489.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.918;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=1.051;MLEAC=1;MLEAF=0.5;MQ=42.98;MQRankSum=1.77;QD=7.31;ReadPosRankSum=-0.638;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNPBuildID=89;ANN=A|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89040479G>A||||||	GT:AD:DP:GQ:PL	0/1:46,21:67:99:518,0,1350
chr2	89046392	rs1314134547	C	T	190.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.7;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=6.011;MLEAC=1;MLEAF=0.5;MQ=34.09;MQRankSum=2.54;QD=5.16;ReadPosRankSum=-0.366;SOR=1.255;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89046392C>T||||||	GT:AD:DP:GQ:PL	0/1:28,9:37:99:219,0,905
chr2	89046431	rs372617048	A	G	346.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.8;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.09;MQRankSum=0.111;QD=11.19;ReadPosRankSum=0.204;SOR=0.801;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372617048;dbSNPBuildID=138;ANN=G|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89046431A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=40;p3_1000G_AF=0.00798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12654;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89345928;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,12:31:99:375,0,628
chr2	89085291	rs2848034	A	G	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.93;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.156;MLEAC=1;MLEAF=0.5;MQ=50.03;MQRankSum=-6.911;QD=8.11;ReadPosRankSum=0.156;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89085291A>G||||||	GT:AD:DP:GQ:PL	0/1:34,26:60:99:515,0,914
chr2	89099739	rs531872630	C	T	846.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.61;QD=32.57;SOR=3.098;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89099739C>T||||||;p3_1000G_AA=N|||;p3_1000G_AC=4969;p3_1000G_AF=0.99221246;p3_1000G_AFR_AF=1.0;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=12620;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_POS=89399232;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:875,78,0
chr2	89159873	rs200695449	A	T	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.61;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=14.753;MLEAC=1;MLEAF=0.5;MQ=45.71;MQRankSum=-3.092;QD=2.79;ReadPosRankSum=-0.63;SOR=3.173;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200695449;dbSNPBuildID=137;ANN=T|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89159873A>T||||||	GT:AD:DP:GQ:PL	0/1:43,10:53:99:176,0,1077
chr2	89176347	rs149900655	A	G	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.64;MQRankSum=-4.593;QD=5.43;ReadPosRankSum=-1.693;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149900655;dbSNPBuildID=134;ANN=G|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89176347A>G||||||;ESP6500_AA=G;ESP6500_AA_AC=66,3706;ESP6500_AA_GTC=17,32,1837;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=119;ESP6500_EA_AC=51,8191;ESP6500_EA_GTC=12,27,4082;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:89176347;ESP6500_GTC=29,59,5919;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=0.6188,1.7497,0.9739;ESP6500_TAC=117,11897	GT:AD:DP:GQ:PL	0/1:17,8:25:99:164,0,425
chr2	89213334	rs410731	G	C	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.267;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.12;MQRankSum=-3.951;QD=13.61;ReadPosRankSum=-1.482;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139073521;dbSNPBuildID=80;ANN=C|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89213334G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=986;p3_1000G_AF=0.196885;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs139073521;p3_1000G_DP=13756;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.0368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89512819;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:246,0,292
chr2	89213369	rs77255451	A	C	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.97;MQRankSum=-3.338;QD=15.03;ReadPosRankSum=-0.588;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77255451;dbSNPBuildID=131;ANN=C|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89213369A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1581;p3_1000G_AF=0.315695;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=14769;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89512854;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,12:22:99:359,0,318
chr2	89213519	rs12619054;rs141893646	A	G	813.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.3;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=3.218;MLEAC=1;MLEAF=0.5;MQ=57.43;MQRankSum=-0.536;QD=10.71;ReadPosRankSum=1.14;SOR=0.38;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141893646;dbSNPBuildID=120;ANN=G|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89213519A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1151;p3_1000G_AF=0.229832;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs141893646;p3_1000G_DP=17099;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89513004;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=797,2975;ESP6500_AA_GTC=74,649,1163;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=115;ESP6500_EA_AC=679,7551;ESP6500_EA_GTC=44,591,3480;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:89213519;ESP6500_GTC=118,1240,4643;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=8.2503,21.1294,12.298;ESP6500_TAC=1476,10526	GT:AD:DP:GQ:PL	0/1:45,31:76:99:842,0,1232
chr2	89214013	rs3016936	T	A	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.573;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.95;MQRankSum=-1.144;QD=4.31;ReadPosRankSum=-1.46;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3016936;dbSNPBuildID=101;ANN=A|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89214013T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1068;p3_1000G_AF=0.213259;p3_1000G_AFR_AF=0.1467;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=13744;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89513498;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,6:25:99:136,0,529
chr2	89234206	rs686925	T	G	686.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.197;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=4.565;MLEAC=1;MLEAF=0.5;MQ=54.11;MQRankSum=-5.632;QD=14.93;ReadPosRankSum=-0.122;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs686925;dbSNPBuildID=83;ANN=G|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89234206T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1517;p3_1000G_AF=0.302915;p3_1000G_AFR_AF=0.4894;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=16677;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.0537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89533687;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,26:46:99:715,0,569
chr2	89234329	rs75790510	C	T	870.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.165;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=4.295;MLEAC=1;MLEAF=0.5;MQ=57.99;MQRankSum=-2.14;QD=11.16;ReadPosRankSum=-0.506;SOR=1.091;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75790510;dbSNPBuildID=131;ANN=T|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89234329C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=924;p3_1000G_AF=0.184505;p3_1000G_AFR_AF=0.1256;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=16208;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.0457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89533810;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:41,37:78:99:899,0,1103
chr2	89244680	rs56876886	G	C	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.792;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.54;MQRankSum=-1.402;QD=11.88;ReadPosRankSum=-2.147;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56876886;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89244680G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1331;p3_1000G_AF=0.265775;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=15423;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.0537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89544163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:242,0,284
chr2	89244990	rs3761688;rs147079411	A	G	372.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.449;MLEAC=1;MLEAF=0.5;MQ=36.06;MQRankSum=-0.776;QD=12.02;ReadPosRankSum=-0.185;SOR=1.567;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147079411;dbSNPBuildID=107;ANN=G|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89244990A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=1388;p3_1000G_AF=0.277157;p3_1000G_AFR_AF=0.3964;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs147079411;p3_1000G_DP=14730;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89544473;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=632,2878;ESP6500_AA_GTC=99,434,1222;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=32;ESP6500_EA_AC=390,7662;ESP6500_EA_GTC=16,358,3652;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:89244990;ESP6500_GTC=115,792,4874;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=4.8435,18.0057,8.8393;ESP6500_TAC=1022,10540	GT:AD:DP:GQ:PL	0/1:15,16:31:99:401,0,366
chr2	89245365	rs652906	C	T	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.973;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.38;MQRankSum=-3.972;QD=3.55;ReadPosRankSum=0.738;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115732594;dbSNPBuildID=83;ANN=T|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89245365C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=1380;p3_1000G_AF=0.275559;p3_1000G_AFR_AF=0.3918;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs115732594;p3_1000G_DP=16318;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.0557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89544848;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:37,10:47:99:195,0,1147
chr2	89266458	rs546239903	CT	C	25.72	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=12.86;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|intergenic_region|MODIFIER|MIR4436A-LOC101927050|MIR4436A-LOC101927050|intergenic_region|MIR4436A-LOC101927050|||n.89266459delT||||||;p3_1000G_AA=ttttttt|TTTTTTT|TTTTTT|deletion;p3_1000G_AC=222;p3_1000G_AF=0.0443291;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=20139;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89566215;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:62,6,0
chr2	89666007	rs6605298	T	A	192.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.1;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=116;ANN=A|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89666007T>A||||||	GT:AD:DP:GQ:PL	1/1:0,8:8:24:221,24,0
chr2	89885242	rs371919969	A	AC	1327.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.76;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=3.751;MLEAC=1;MLEAF=0.5;MQ=34.84;MQRankSum=-0.305;QD=25.05;ReadPosRankSum=-0.892;SOR=0.486;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=AC|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89885242_89885243insC||||||;p3_1000G_AA=CCCCCC|CCCCCC|CCCCCCC|insertion;p3_1000G_AC=1587;p3_1000G_AF=0.316893;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=19629;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.0636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89924052;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,47:53:22:1356,0,22
chr2	89948111	rs424406	C	T	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.169;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.062;MLEAC=1;MLEAF=0.5;MQ=51.48;MQRankSum=-6.258;QD=7.83;ReadPosRankSum=-0.789;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs424406;dbSNPBuildID=80;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89948111C>T||||||	GT:AD:DP:GQ:PL	0/1:34,20:54:99:451,0,1022
chr2	89960266	rs113541274	T	C	323.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.28;QD=25.52;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs142059031;dbSNPBuildID=132;ANN=C|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89960266T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4815;p3_1000G_AF=0.961462;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=10480;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=89999076;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:352,27,0
chr2	89960538	rs200259649	G	C	26.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=27;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.431;SOR=2.225;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200259649;dbSNPBuildID=137;ANN=C|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89960538G>C||||||;ESP6500_AA=G;ESP6500_AA_AC=80,2230;ESP6500_AA_GTC=0,80,1075;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=2;ESP6500_EA_AC=182,4716;ESP6500_EA_GTC=1,180,2268;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:89960538;ESP6500_GTC=1,260,3343;ESP6500_GTS=CC,CG,GG;ESP6500_MAF=3.7158,3.4632,3.6349;ESP6500_TAC=262,6946	GT:AD:DP:GQ:PL	0/1:1,2:3:23:55,0,23
chr2	89969293	rs11685391	G	A	661.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.985;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=2.14;MLEAC=1;MLEAF=0.5;MQ=54.89;MQRankSum=-1.487;QD=9.59;ReadPosRankSum=-2.289;SOR=1.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11685391;dbSNPBuildID=120;ANN=A|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89969293G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1266;p3_1000G_AF=0.252796;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=16556;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.1093;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90008103;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:39,30:69:99:690,0,1144
chr2	89969363	rs429681	T	C	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=8.618;MLEAC=1;MLEAF=0.5;MQ=49.09;MQRankSum=-3.047;QD=7.3;ReadPosRankSum=1.13;SOR=3.126;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs429681;dbSNPBuildID=80;ANN=C|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89969363T>C||||||	GT:AD:DP:GQ:PL	0/1:20,9:29:99:240,0,578
chr2	89969398	rs410695	T	G	645.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.4;QD=31.32;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs138920656;dbSNPBuildID=80;ANN=G|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89969398T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4045;p3_1000G_AF=0.807708;p3_1000G_AFR_AF=0.8207;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs138920656;p3_1000G_DP=15425;p3_1000G_EAS_AF=0.8452;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90008208;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:674,48,0
chr2	89986064	rs56726814	C	A	356.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.459;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.485;MLEAC=1;MLEAF=0.5;MQ=58.88;MQRankSum=-1.246;QD=12.3;ReadPosRankSum=0.109;SOR=1.162;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56726814;dbSNPBuildID=129;ANN=A|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89986064C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1519;p3_1000G_AF=0.303315;p3_1000G_AFR_AF=0.4962;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=16936;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90024874;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,14:29:99:385,0,442
chr2	89986465	rs28550408	G	C	1078.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.168;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=0.888;MLEAC=1;MLEAF=0.5;MQ=45.81;MQRankSum=-0.641;QD=14.01;ReadPosRankSum=-0.143;SOR=0.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147187346;dbSNPBuildID=125;ANN=C|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.89986465G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1736;p3_1000G_AF=0.346645;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=16847;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90025275;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1107,0,890
chr2	90069574	rs859744	G	A	237.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs859744;dbSNPBuildID=86;ANN=A|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90069574G>A||||||;p3_1000G_AA=N|||;p3_1000G_AC=4822;p3_1000G_AF=0.962859;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=17128;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90108416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:266,24,0
chr2	90069936	rs859745	G	T	643.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.914;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=0.279;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs859745;dbSNPBuildID=86;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90069936G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3407;p3_1000G_AF=0.680312;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=19104;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.7455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90108778;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1476,2422;ESP6500_AA_GTC=326,824,799;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=34;ESP6500_EA_AC=6082,2206;ESP6500_EA_GTC=2270,1542,332;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:90069936;ESP6500_GTC=2596,2366,1131;ESP6500_GTS=TT,TG,GG;ESP6500_MAF=26.6168,37.8656,37.978;ESP6500_TAC=7558,4628	GT:AD:DP:GQ:PL	0/1:18,24:42:99:672,0,583
chr2	90082833	rs7371197	T	C	1171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.82;MQRankSum=-8.522;QD=13.47;ReadPosRankSum=0.678;SOR=0.796;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7371197;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90082833T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4177;p3_1000G_AF=0.834065;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=14520;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90121675;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2017,1665;ESP6500_AA_GTC=782,453,606;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=7054,1026;ESP6500_EA_GTC=3300,454,286;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:90082833;ESP6500_GTC=4082,907,892;ESP6500_GTS=CC,CT,TT;ESP6500_MAF=12.698,45.22,22.8788;ESP6500_TAC=9071,2691	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1200,0,1116
chr2	90083003	rs2693227	A	G	1233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.22;ClippingRankSum=0;DP=149;ExcessHet=3.0103;FS=10.441;MLEAC=1;MLEAF=0.5;MQ=57.85;MQRankSum=-6.982;QD=8.28;ReadPosRankSum=0.56;SOR=1.254;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2693227;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90083003A>G||||||;ESP6500_AA=A;ESP6500_AA_AC=1113,2781;ESP6500_AA_GTC=4,1105,838;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=165;ESP6500_EA_AC=921,7351;ESP6500_EA_GTC=3,915,3218;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:90083003;ESP6500_GTC=7,2020,4056;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=11.1339,28.5824,16.7187;ESP6500_TAC=2034,10132	GT:AD:DP:GQ:PGT:PID:PL	0/1:111,38:149:99:0|1:90083003_A_G:1262,0,4504
chr2	90083007	rs1852250	A	G	1254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.61;ClippingRankSum=0;DP=147;ExcessHet=3.0103;FS=10.22;MLEAC=1;MLEAF=0.5;MQ=58.02;MQRankSum=-7.694;QD=8.54;ReadPosRankSum=0.495;SOR=1.143;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1852250;dbSNPBuildID=92;ANN=G|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90083007A>G||||||;ESP6500_AA=G;ESP6500_AA_AC=1199,2705;ESP6500_AA_GTC=4,1191,757;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=168;ESP6500_EA_AC=1007,7269;ESP6500_EA_GTC=3,1001,3134;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:90083007;ESP6500_GTC=7,2192,3891;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=12.1677,30.7121,18.1117;ESP6500_TAC=2206,9974	GT:AD:DP:GQ:PGT:PID:PL	0/1:108,39:147:99:0|1:90083003_A_G:1283,0,4502
chr2	90083084	rs1852249	G	T	1156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.519;ClippingRankSum=0;DP=152;ExcessHet=3.0103;FS=2.142;MLEAC=1;MLEAF=0.5;MQ=57.93;MQRankSum=-6.608;QD=7.61;ReadPosRankSum=1.67;SOR=0.82;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1852249;dbSNPBuildID=92;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90083084G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1221;p3_1000G_AF=0.24381;p3_1000G_AFR_AF=0.354;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=21934;p3_1000G_EAS_AF=0.2579;p3_1000G_EUR_AF=0.1054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90121926;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:100,52:152:99:1185,0,3073
chr2	90083143	rs2693226	A	G	851.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=3.612;MLEAC=1;MLEAF=0.5;MQ=57.16;MQRankSum=-4.742;QD=6.76;ReadPosRankSum=0.881;SOR=1.058;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2693226;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90083143A>G||||||	GT:AD:DP:GQ:PL	0/1:89,37:126:99:880,0,2334
chr2	90083332	rs2848371	A	C	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.02;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=7.903;MLEAC=1;MLEAF=0.5;MQ=49.33;MQRankSum=-2.953;QD=2.64;ReadPosRankSum=0.607;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2848371;dbSNPBuildID=100;ANN=C|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90083332A>C||||||	GT:AD:DP:GQ:PL	0/1:31,6:37:99:126,0,949
chr2	90083382	rs2245762	G	A	40.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.369;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.626;MLEAC=1;MLEAF=0.5;MQ=52.39;MQRankSum=-2.68;QD=1.57;ReadPosRankSum=0.962;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2245762;dbSNPBuildID=100;ANN=A|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90083382G>A||||||	GT:AD:DP:GQ:PL	0/1:22,4:26:69:69,0,665
chr2	90100872	rs545639486	T	G	1038.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.22;QD=35.16;SOR=2.91;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90100872T>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=4995;p3_1000G_AF=0.99740415;p3_1000G_AFR_AF=1.0;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17557;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_POS=90139714;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1067,87,0
chr2	90154172	rs1680605	G	A	127.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.863;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=5.798;MLEAC=1;MLEAF=0.5;MQ=30.45;MQRankSum=-1.649;QD=5.81;ReadPosRankSum=1.15;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNPBuildID=89;ANN=A|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90154172G>A||||||	GT:AD:DP:GQ:PL	0/1:15,7:22:99:156,0,465
chr2	90154653	rs1680606	T	G	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.9;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.93;MQRankSum=-3.696;QD=0.54;ReadPosRankSum=-1.153;SOR=0.287;SNP;HET;VARTYPE=SNP;dbSNPBuildID=89;ANN=G|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90154653T>G||||||	GT:AD:DP:GQ:PL	0/1:16,3:19:38:38,0,433
chr2	90172967	rs2847797	G	T	719.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.726;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.427;MLEAC=1;MLEAF=0.5;MQ=50.18;MQRankSum=0.647;QD=22.49;ReadPosRankSum=-1.074;SOR=1.106;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90172967G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4306;p3_1000G_AF=0.859824;p3_1000G_AFR_AF=0.6497999999999999;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=16538;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.9205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=90211808;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,19:32:99:0|1:90172967_G_T:748,0,706
chr2	90172968	rs2847798	T	C	719.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.427;MLEAC=1;MLEAF=0.5;MQ=50.18;MQRankSum=0.647;QD=22.49;ReadPosRankSum=-0.86;SOR=1.106;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=C|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90172968T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4306;p3_1000G_AF=0.859824;p3_1000G_AFR_AF=0.6497999999999999;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=16205;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.9205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=90211809;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,19:32:99:0|1:90172967_G_T:748,0,706
chr2	90173399	rs117046277	G	A	697.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.199;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=16.425;MLEAC=1;MLEAF=0.5;MQ=52.7;MQRankSum=-0.843;QD=10.73;ReadPosRankSum=0.352;SOR=1.683;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117046277;dbSNPBuildID=132;ANN=A|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90173399G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=41;p3_1000G_AF=0.0081869;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18557;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=90212240;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4,3828;ESP6500_AA_GTC=0,4,1912;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=92;ESP6500_EA_AC=1,8243;ESP6500_EA_GTC=0,1,4121;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:90173399;ESP6500_GTC=0,5,6033;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=0.0121,0.1044,0.0414;ESP6500_TAC=5,12071	GT:AD:DP:GQ:PL	0/1:38,27:65:99:726,0,1051
chr2	90190408	rs842173	C	T	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.113;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.202;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.307;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNPBuildID=86;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90190408C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3828;p3_1000G_AF=0.764377;p3_1000G_AFR_AF=0.4675;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=18968;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.836;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=90229260;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.8722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,19:41:99:470,0,736
chr2	90190754	rs2847976	A	G	1188.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.69;SOR=2.517;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90190754A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4830;p3_1000G_AF=0.9644569;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=19061;p3_1000G_EAS_AF=1.0;p3_1000G_EUR_AF=0.9264;p3_1000G_GRCH37_POS=90229606;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9652000000000001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1217,99,0
chr2	90220982	rs842155	G	T	1094.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.619;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.871;SOR=0.652;SNP;HET;VARTYPE=SNP;dbSNPBuildID=86;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90220982G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3802;p3_1000G_AF=0.759185;p3_1000G_AFR_AF=0.45389999999999997;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=18126;p3_1000G_EAS_AF=0.9147;p3_1000G_EUR_AF=0.831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=90259848;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.8712;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1123,0,768
chr2	90221099	rs842156	C	T	845.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.073;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=4.79;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.678;SOR=0.858;SNP;HET;VARTYPE=SNP;dbSNPBuildID=86;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90221099C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3999;p3_1000G_AF=0.798522;p3_1000G_AFR_AF=0.4637;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=18706;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.9006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=90259965;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:35,33:68:99:874,0,997
chr2	90221325	rs842157	C	T	808.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0.91;MLEAC=1;MLEAF=0.5;MQ=59.68;MQRankSum=0.536;QD=11.55;ReadPosRankSum=0.594;SOR=0.618;SNP;HET;VARTYPE=SNP;dbSNPBuildID=86;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90221325C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3807;p3_1000G_AF=0.760184;p3_1000G_AFR_AF=0.45230000000000004;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=16913;p3_1000G_EAS_AF=0.9167;p3_1000G_EUR_AF=0.833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=90260191;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.8732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:37,33:70:99:837,0,1007
chr2	90309244	rs879871892	C	T	585.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.548;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.287;MLEAC=1;MLEAF=0.5;MQ=44.46;MQRankSum=-1.738;QD=15.02;ReadPosRankSum=-0.239;SOR=0.389;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376535462;dbSNPBuildID=149;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90309244C>T||||||	GT:AD:DP:GQ:PL	0/1:17,22:39:99:614,0,393
chr2	90309284	rs113003936	G	T	33.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.085;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=6.382;MLEAC=1;MLEAF=0.5;MQ=49.04;MQRankSum=-1.648;QD=0.69;ReadPosRankSum=0.873;SOR=1.521;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370271451;dbSNPBuildID=132;ANN=T|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90309284G>T||||||	GT:AD:DP:GQ:PL	0/1:42,7:49:62:62,0,1222
chr2	90309438	rs56073032	T	G	477.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=55.93;MQRankSum=-1.412;QD=25.15;ReadPosRankSum=-1.394;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369934002;dbSNPBuildID=142;ANN=G|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.90309438T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4089;p3_1000G_AF=0.816494;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=18315;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9016;p3_1000G_GRCH37_POS=90464599;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_STRAND_FLIP;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,15:19:99:506,0,102
chr2	91578670	rs1159888242	CAG	C	170.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.563;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.55;MQRankSum=0.832;QD=12.2;ReadPosRankSum=1.96;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intergenic_region|MODIFIER|LOC101927050-LOC654342|LOC101927050-LOC654342|intergenic_region|LOC101927050-LOC654342|||n.91578671_91578672delAG||||||	GT:AD:DP:GQ:PL	0/1:8,6:14:99:208,0,323
chr2	91699816	rs9750455	T	C	18.82	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.26;MQRankSum=-0.66;QD=1.71;ReadPosRankSum=-0.349;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78921039;dbSNPBuildID=119;ANN=C|intergenic_region|MODIFIER|LOC654342-GGT8P|LOC654342-GGT8P|intergenic_region|LOC654342-GGT8P|||n.91699816T>C||||||	GT:AD:DP:GQ:PL	0/1:9,2:11:47:47,0,282
chr2	91700430	rs4004672	C	A	78.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.644;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.971;MLEAC=1;MLEAF=0.5;MQ=39.25;MQRankSum=-2.578;QD=3.58;ReadPosRankSum=-0.954;SOR=1.229;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142484459;dbSNPBuildID=123;ANN=A|intergenic_region|MODIFIER|LOC654342-GGT8P|LOC654342-GGT8P|intergenic_region|LOC654342-GGT8P|||n.91700430C>A||||||	GT:AD:DP:GQ:PL	0/1:16,6:22:99:107,0,396
chr2	91739366	rs139109697	C	T	616.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.763;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.945;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.995;SOR=1.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139109697;dbSNPBuildID=134;ANN=T|intergenic_region|MODIFIER|LOC654342-GGT8P|LOC654342-GGT8P|intergenic_region|LOC654342-GGT8P|||n.91739366C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=306;p3_1000G_AF=0.0611022;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=18072;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91927392;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,27:55:99:645,0,783
chr2	91747915	rs189319418	G	T	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.921;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=6.951;MLEAC=1;MLEAF=0.5;MQ=50.36;MQRankSum=-1.484;QD=13.69;ReadPosRankSum=-1.657;SOR=0.103;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189319418;dbSNPBuildID=135;ANN=T|intergenic_region|MODIFIER|LOC654342-GGT8P|LOC654342-GGT8P|intergenic_region|LOC654342-GGT8P|||n.91747915G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=307;p3_1000G_AF=0.0613019;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=14729;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91935941;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.046;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,20:33:99:480,0,421
chr2	91752496	rs201177880	C	T	199.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.376;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=11.139;MLEAC=1;MLEAF=0.5;MQ=36.52;MQRankSum=0.972;QD=13.32;ReadPosRankSum=-0.16;SOR=3.967;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201177880;dbSNPBuildID=137;ANN=T|intergenic_region|MODIFIER|LOC654342-GGT8P|LOC654342-GGT8P|intergenic_region|LOC654342-GGT8P|||n.91752496C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=490;p3_1000G_AF=0.0978435;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=15443;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.0895;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=91940522;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:228,0,170
chr2	91843135	rs1858798	A	G	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.766;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.688;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1858798;dbSNPBuildID=92;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91843135A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=880;p3_1000G_AF=0.175719;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=18405;p3_1000G_EAS_AF=0.0853;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92031161;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0644;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,12:24:99:335,0,321
chr2	91887546	rs28449591	T	C	52.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.814;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.96;MQRankSum=-2.65;QD=2.93;ReadPosRankSum=0.913;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28449591;dbSNPBuildID=125;ANN=C|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887546T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,3:18:81:0|1:91887546_T_C:81,0,601
chr2	91887558	rs58932462	G	A	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.792;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.23;MQRankSum=-2.672;QD=2.62;ReadPosRankSum=1.16;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58932462;dbSNPBuildID=129;ANN=A|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887558G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,3:19:78:0|1:91887546_T_C:78,0,700
chr2	91887577	rs56975285	C	G	52.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.298;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.1;MQRankSum=-2.65;QD=2.93;ReadPosRankSum=1.34;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56975285;dbSNPBuildID=129;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887577C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,3:18:81:0|1:91887546_T_C:81,0,662
chr2	91887584	rs201740141	G	T	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.589;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.1;MQRankSum=-1.476;QD=10.43;ReadPosRankSum=0.764;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201740141;dbSNPBuildID=137;ANN=T|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887584G>T||||||	GT:AD:DP:GQ:PL	0/1:12,6:18:99:216,0,544
chr2	91887589	rs80231020	A	G	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.783;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.1;MQRankSum=-1.401;QD=15.43;ReadPosRankSum=1.08;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111681132;dbSNPBuildID=131;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887589A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:0|1:91887589_A_G:306,0,454
chr2	91887592	rs113086124	T	C	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.783;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=42.1;MQRankSum=-1.401;QD=15.43;ReadPosRankSum=1.43;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113086124;dbSNPBuildID=132;ANN=C|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887592T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:0|1:91887589_A_G:306,0,454
chr2	91887602	rs59720433	A	G	55.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.563;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=40.81;MQRankSum=-2.63;QD=3.28;ReadPosRankSum=0.694;SOR=1.049;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59720433;dbSNPBuildID=129;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887602A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,3:17:84:0|1:91887546_T_C:84,0,620
chr2	91887603	rs763606124	C	A	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.4;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.81;MQRankSum=0.228;QD=0.65;ReadPosRankSum=-0.672;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887603C>A||||||	GT:AD:DP:GQ:PL	0/1:15,2:17:39:39,0,690
chr2	91887683	rs11240891	A	G	22.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.52;MQRankSum=-1.383;QD=5.7;ReadPosRankSum=-1.383;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240891;dbSNPBuildID=120;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91887683A>G||||||	GT:AD:DP:GQ:PL	0/1:2,2:4:51:51,0,63
chr2	91892317	rs75896108	G	T	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=46.52;MQRankSum=-1.282;QD=7.29;ReadPosRankSum=-0.842;SOR=0.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140482064;dbSNPBuildID=131;ANN=T|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892317G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2395;p3_1000G_AF=0.478235;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs140482064;p3_1000G_DP=29798;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92080343;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:72:0|1:91892317_G_T:72,0,162
chr2	91892333	rs62151914	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.74;MQRankSum=2.19;QD=12.25;ReadPosRankSum=0.484;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62151914;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892333T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,3:7:99:0|1:91892333_T_C:114,0,159
chr2	91892335	rs75556673	T	G	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=5.441;MLEAC=1;MLEAF=0.5;MQ=46.74;MQRankSum=-1.465;QD=5.82;ReadPosRankSum=0.712;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144616959;dbSNPBuildID=131;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892335T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2323;p3_1000G_AF=0.463858;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs144616959;p3_1000G_DP=28488;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.4722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92080361;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,2:7:69:0|1:91892317_G_T:69,0,196
chr2	91892337	rs76605539	T	C	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.74;MQRankSum=2.19;QD=12.25;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146803324;dbSNPBuildID=131;ANN=C|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892337T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,3:7:99:0|1:91892333_T_C:114,0,159
chr2	91892415	rs78910699	G	T	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.751;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=40.7;MQRankSum=-1.016;QD=8.86;ReadPosRankSum=1.28;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200384487;dbSNPBuildID=131;ANN=T|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892415G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,3:9:99:0|1:91892415_G_T:108,0,243
chr2	91892422	rs78403838	A	G	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=40.7;MQRankSum=-1.016;QD=8.53;ReadPosRankSum=1.8;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201162887;dbSNPBuildID=131;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892422A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,3:9:99:0|1:91892415_G_T:105,0,285
chr2	91892447	rs199650046	T	C	76.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=39.55;MQRankSum=-0.319;QD=7.68;ReadPosRankSum=1.57;SOR=2.419;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199650046;dbSNPBuildID=137;ANN=C|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892447T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,3:10:99:0|1:91892415_G_T:105,0,285
chr2	91892469	rs138699481	T	G	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=42.1;MQRankSum=-1.534;QD=9.97;ReadPosRankSum=-0.854;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138699481;dbSNPBuildID=134;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892469T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,3:8:99:0|1:91892415_G_T:108,0,243
chr2	91892495	rs6761348	A	G	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.19;MQRankSum=-1.282;QD=11.68;ReadPosRankSum=-1.902;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201850613;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892495A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20615;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=92080521;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,3:7:99:0|1:91892495_A_G:110,0,159
chr2	91892501	rs75302447	A	G	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.39;MQRankSum=-0.967;QD=7.29;ReadPosRankSum=-1.501;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199823155;dbSNPBuildID=131;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91892501A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:72:0|1:91892495_A_G:72,0,162
chr2	91931631	rs7604301	A	G	399.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.447;MLEAC=1;MLEAF=0.5;MQ=31.65;MQRankSum=0.867;QD=13.79;ReadPosRankSum=-0.228;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139978191;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91931631A>G||||||	GT:AD:DP:GQ:PL	0/1:12,17:29:99:428,0,262
chr2	91931663	rs7588682	G	T	262.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.185;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=29.07;MQRankSum=0.426;QD=11.94;ReadPosRankSum=-1.393;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7588682;dbSNPBuildID=116;ANN=T|intergenic_region|MODIFIER|GGT8P-ACTR3BP2|GGT8P-ACTR3BP2|intergenic_region|GGT8P-ACTR3BP2|||n.91931663G>T||||||	GT:AD:DP:GQ:PL	0/1:10,12:22:99:291,0,239
chr2	91962336	rs55887807	G	C	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.47;MQRankSum=-1.93;QD=3.6;ReadPosRankSum=-0.887;SOR=1.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55887807;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91962336G>C||||||	GT:AD:DP:GQ:PL	0/1:5,3:8:57:57,0,117
chr2	91962444	rs7424063	G	A	43.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.589;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.54;MQRankSum=-0.241;QD=4.86;ReadPosRankSum=0.06;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7424063;dbSNPBuildID=116;ANN=A|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91962444G>A||||||	GT:AD:DP:GQ:PL	0/1:5,4:9:72:72,0,116
chr2	91963460	rs76764043	C	T	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.045;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.25;MQRankSum=-1.803;QD=4.72;ReadPosRankSum=0.319;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76764043;dbSNPBuildID=131;ANN=T|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91963460C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,2:8:66:0|1:91963460_C_T:66,0,246
chr2	91963466	rs79038696	T	C	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.25;MQRankSum=-1.803;QD=4.72;ReadPosRankSum=0.319;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79038696;dbSNPBuildID=131;ANN=C|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91963466T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,2:8:66:0|1:91963460_C_T:66,0,246
chr2	91963538	rs77348385	C	G	15.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.4;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=54.67;MQRankSum=-3.107;QD=0.79;ReadPosRankSum=-0.424;SOR=2.247;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77348385;dbSNPBuildID=131;ANN=G|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91963538C>G||||||	GT:AD:DP:GQ:PL	0/1:17,3:20:44:44,0,406
chr2	91963564	rs76567020	T	C	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.26;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.84;MQRankSum=-3.788;QD=2.34;ReadPosRankSum=-0.848;SOR=1.118;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76567020;dbSNPBuildID=131;ANN=C|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91963564T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,3:20:75:0|1:91963564_T_C:75,0,695
chr2	91963573	rs80200020	T	C	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.39;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.84;MQRankSum=-4.141;QD=2.62;ReadPosRankSum=-0.728;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80200020;dbSNPBuildID=131;ANN=C|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91963573T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,3:19:78:0|1:91963564_T_C:78,0,663
chr2	91963641	rs202067044	A	G	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.941;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.96;MQRankSum=-2.992;QD=3.12;ReadPosRankSum=1.42;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202067044;dbSNPBuildID=137;ANN=G|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91963641A>G||||||	GT:AD:DP:GQ:PL	0/1:11,4:15:75:75,0,292
chr2	91963663	rs200097586	A	T	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.15;MQRankSum=-1.732;QD=6.31;ReadPosRankSum=0;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200097586;dbSNPBuildID=137;ANN=T|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.91963663A>T||||||	GT:AD:DP:GQ:PL	0/1:6,3:9:85:85,0,173
chr2	94196115	rs1160468729	C	T	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.603;MLEAC=1;MLEAF=0.5;MQ=56.21;MQRankSum=1.33;QD=6.59;ReadPosRankSum=1.22;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.94196115C>T||||||	GT:AD:DP:GQ:PL	0/1:16,9:25:99:193,0,438
chr2	94199062	rs419675	C	T	30.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=80;ANN=T|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.94199062C>T||||||	GT:AD:DP:GQ:PL	0/1:2,2:4:59:59,0,61
chr2	94199564	rs412762	C	T	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.73;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=56.07;MQRankSum=0.358;QD=8.65;ReadPosRankSum=-0.287;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=80;ANN=T|intergenic_region|MODIFIER|ACTR3BP2-LOC100133920|ACTR3BP2-LOC100133920|intergenic_region|ACTR3BP2-LOC100133920|||n.94199564C>T||||||	GT:AD:DP:GQ:PL	0/1:16,16:32:99:305,0,432
chr2	94815035	rs200702016	A	G	67.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.71;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.036;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200702016;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|ANKRD20A8P|ANKRD20A8P|transcript|NR_003366.2|pseudogene|13/23|n.2238+47T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=244;p3_1000G_AF=0.048722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=18952;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.0199;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95480780;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:68:96,0,68
chr2	94857002	rs10874467	C	G	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-0.524;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10874467;dbSNPBuildID=120;ANN=G|non_coding_transcript_exon_variant|MODIFIER|ANKRD20A8P|ANKRD20A8P|transcript|NR_003366.2|pseudogene|1/24|n.74G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2116;p3_1000G_AF=0.422524;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=9487;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95522747;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:66:66,0,154
chr2	94871500	rs4854234	C	G	197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.857;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.167;SOR=0.065;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4854234;dbSNPBuildID=111;ANN=G|5_prime_UTR_variant|MODIFIER|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|1/6|c.-80C>G|||||80|,G|5_prime_UTR_variant|MODIFIER|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|1/6|c.-1329C>G|||||2068|,G|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|9/9|n.1318-803G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2114;p3_1000G_AF=0.422125;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=17800;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.337;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95537245;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:226,0,276
chr2	94871827	rs4854235	C	T	624.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.396;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=9.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.26;SOR=1.762;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4854235;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|1/6|c.248C>T|p.Thr83Met|395/1515|248/1308|83/435||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|1/6|c.-1002C>T||||||,T|5_prime_UTR_variant|MODIFIER|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|1/6|c.-1002C>T|||||1741|,T|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|9/9|n.1318-1130G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1952;p3_1000G_AF=0.389776;p3_1000G_AFR_AF=0.5083;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=16701;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.2744;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95537572;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2061,2321;ESP6500_AA_GTC=492,1077,622;ESP6500_CDS_SIZES=NM_144705.2:1308;ESP6500_CG=2.0;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=16;ESP6500_EA_AC=2526,6032;ESP6500_EA_GTC=388,1750,2141;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144705.2:missense;ESP6500_GL=TEKT4;ESP6500_GRCh38_POSITION=2:94871827;ESP6500_GS=81;ESP6500_GTC=880,2827,2763;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144705.2:c.248C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144705.2:p.(T83M);ESP6500_MAF=29.5162,47.0333,35.4482;ESP6500_PH=probably-damaging:0.973;ESP6500_TAC=4587,8353	GT:AD:DP:GQ:PL	0/1:31,27:58:99:653,0,783
chr2	94871877	rs11164112	A	G	608.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.84;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.466;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.463;SOR=1.211;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11164112;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|1/6|c.298A>G|p.Ser100Gly|445/1515|298/1308|100/435||,G|5_prime_UTR_variant|MODIFIER|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|1/6|c.-952A>G|||||1691|,G|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|9/9|n.1318-1180T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2141;p3_1000G_AF=0.427516;p3_1000G_AFR_AF=0.5166;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=17318;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.3419;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95537622;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2150,2232;ESP6500_AA_GTC=542,1066,583;ESP6500_CDS_SIZES=NM_144705.2:1308;ESP6500_CG=-0.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=15;ESP6500_EA_AC=3138,5444;ESP6500_EA_GTC=576,1986,1729;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144705.2:missense;ESP6500_GL=TEKT4;ESP6500_GRCh38_POSITION=2:94871877;ESP6500_GS=56;ESP6500_GTC=1118,3052,2312;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144705.2:c.298A>G;ESP6500_HGVS_PROTEIN_VAR=NM_144705.2:p.(S100G);ESP6500_MAF=36.5649,49.0644,40.7899;ESP6500_PH=benign:0.0;ESP6500_TAC=5288,7676	GT:AD:DP:GQ:PL	0/1:27,24:51:99:637,0,657
chr2	94872126	rs11483811;rs782111345	G	GC	24.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.12;ReadPosRankSum=1.96;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs68162535,rs11483811;dbSNPBuildID=144,130;ANN=GC|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|9/9|n.1317+1262dupG||||||,GC|intron_variant|MODIFIER|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|1/5|c.498+60dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|1/5|c.-752+60dupC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,3:6:62:62,0,66
chr2	94876618	.	C	G	237.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=131;ExcessHet=3.0103;FS=8.569;MLEAC=1;MLEAF=0.5;MQ=57.68;MQRankSum=-11.37;QD=1.82;ReadPosRankSum=-0.907;SOR=1.947;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112631866;ANN=G|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|6/6|c.1157C>G|p.Ala386Gly|1304/1515|1157/1308|386/435||,G|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|6/6|c.611C>G|p.Ala204Gly|2007/2218|611/762|204/253||,G|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|8/9|n.1154-3066G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:117,14:131:99:0|1:94876587_C_A:266,0,5279
chr2	94876631	rs201397911	G	T	390.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.796;ClippingRankSum=0;DP=151;ExcessHet=3.0103;FS=0.964;MLEAC=1;MLEAF=0.5;MQ=57.41;MQRankSum=-12.21;QD=2.59;ReadPosRankSum=-0.669;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201397911;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|6/6|c.1170G>T|p.Leu390Leu|1317/1515|1170/1308|390/435||,T|synonymous_variant|LOW|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|6/6|c.624G>T|p.Leu208Leu|2020/2218|624/762|208/253||,T|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|8/9|n.1154-3079C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:132,19:151:99:0|1:94876587_C_A:419,0,5767
chr2	94876632	rs72817671	C	T	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.679;ClippingRankSum=0;DP=152;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.34;MQRankSum=-12.25;QD=2.59;ReadPosRankSum=-0.909;SOR=0.702;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72817671;dbSNPBuildID=130;ANN=T|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|6/6|c.1171C>T|p.Arg391Cys|1318/1515|1171/1308|391/435||,T|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|6/6|c.625C>T|p.Arg209Cys|2021/2218|625/762|209/253||,T|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|8/9|n.1154-3080G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:132,20:152:99:0|1:94876587_C_A:422,0,5725
chr2	94876671	rs142133592	A	G	626.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.298;ClippingRankSum=0;DP=172;ExcessHet=3.0103;FS=1.747;MLEAC=1;MLEAF=0.5;MQ=56.75;MQRankSum=-12.98;QD=3.67;ReadPosRankSum=0.811;SOR=0.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142133592;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|6/6|c.1210A>G|p.Ile404Val|1357/1515|1210/1308|404/435||,G|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|6/6|c.664A>G|p.Ile222Val|2060/2218|664/762|222/253||,G|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|8/9|n.1154-3119T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:145,26:171:99:0|1:94876671_A_G:655,0,6106
chr2	94876674	rs75603622	G	A	623.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.344;ClippingRankSum=0;DP=172;ExcessHet=3.0103;FS=1.745;MLEAC=1;MLEAF=0.5;MQ=56.75;MQRankSum=-12.95;QD=3.67;ReadPosRankSum=0.931;SOR=0.476;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75603622;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|6/6|c.1213G>A|p.Ala405Thr|1360/1515|1213/1308|405/435||,A|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|6/6|c.667G>A|p.Ala223Thr|2063/2218|667/762|223/253||,A|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|8/9|n.1154-3122C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=58;p3_1000G_AF=0.0115815;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=18949;p3_1000G_EAS_AF=0.0179;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95542419;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:144,26:170:99:0|1:94876671_A_G:652,0,6128
chr2	94876731	rs1052809	C	T	148.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.779;ClippingRankSum=0;DP=164;ExcessHet=3.0103;FS=2.043;MLEAC=1;MLEAF=0.5;MQ=57.53;MQRankSum=-12.73;QD=0.91;ReadPosRankSum=0.887;SOR=1.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052809;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_144705.3|protein_coding|6/6|c.1270C>T|p.Arg424Cys|1417/1515|1270/1308|424/435||,T|missense_variant|MODERATE|TEKT4|TEKT4|transcript|NM_001286559.1|protein_coding|6/6|c.724C>T|p.Arg242Cys|2120/2218|724/762|242/253||,T|intron_variant|MODIFIER|LOC442028|LOC442028|transcript|NR_037597.1|pseudogene|8/9|n.1154-3179G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19845;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95542476;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:145,19:164:99:177,0,4155
chr2	95149561	rs36045840	C	T	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.827;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=3.918;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.01;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36045840;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|ZNF514|ZNF514|transcript|NM_001318005.1|protein_coding|5/5|c.1143G>A|p.Arg381Arg|1745/6306|1143/1422|381/473||,T|synonymous_variant|LOW|ZNF514|ZNF514|transcript|NM_032788.2|protein_coding|5/5|c.924G>A|p.Arg308Arg|1365/5926|924/1203|308/400||;p3_1000G_AA=C|||;p3_1000G_AC=113;p3_1000G_AF=0.0225639;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=19729;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95815306;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=30,4376;ESP6500_AA_AGE=36.0+/-67.5;ESP6500_AA_GTC=0,30,2173;ESP6500_CDS_SIZES=NM_032788.1:1203;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=70;ESP6500_EA_AC=263,8337;ESP6500_EA_AGE=101.9+/-163.1;ESP6500_EA_GTC=3,257,4040;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032788.1:coding-synonymous;ESP6500_GL=ZNF514;ESP6500_GRCh38_POSITION=2:95149561;ESP6500_GTC=3,287,6213;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032788.1:c.924G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032788.1:p.(R308);ESP6500_MAF=3.0581,0.6809,2.2528;ESP6500_TAC=293,12713	GT:AD:DP:GQ:PL	0/1:26,25:51:99:542,0,671
chr2	95150272	rs34282100;rs55921067	T	TA	55.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.094;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.29;ReadPosRankSum=-1.191;SOR=0.593;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34282100;dbSNPBuildID=126,135;ANN=TA|splice_region_variant&intron_variant|LOW|ZNF514|ZNF514|transcript|NM_001318005.1|protein_coding|4/4|c.437-6dupT||||||,TA|splice_region_variant&intron_variant|LOW|ZNF514|ZNF514|transcript|NM_032788.2|protein_coding|4/4|c.218-6dupT||||||	GT:AD:DP:GQ:PL	0/1:6,7:13:93:93,0,121
chr2	95164907	rs6719142	T	C	369.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6719142;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_001291605.1|protein_coding||c.-11320T>C|||||510|,C|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_001017396.2|protein_coding||c.-12669T>C|||||510|,C|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_001282398.1|protein_coding||c.-11320T>C|||||510|,C|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_001291604.1|protein_coding||c.-12669T>C|||||510|,C|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_021088.3|protein_coding||c.-11320T>C|||||510|,C|intergenic_region|MODIFIER|ZNF514-ZNF2|ZNF514-ZNF2|intergenic_region|ZNF514-ZNF2|||n.95164907T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2489;p3_1000G_AF=0.497005;p3_1000G_AFR_AF=0.4319;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=17142;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.5179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95830652;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:398,33,0
chr2	95164992	rs11395151;rs397762339	C	CA	820.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.528;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11395151;dbSNPBuildID=130,138;ANN=CA|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_001291605.1|protein_coding||c.-11235_-11234insA|||||424|,CA|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_001017396.2|protein_coding||c.-12584_-12583insA|||||424|,CA|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_001282398.1|protein_coding||c.-11235_-11234insA|||||424|,CA|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_001291604.1|protein_coding||c.-12584_-12583insA|||||424|,CA|upstream_gene_variant|MODIFIER|ZNF2|ZNF2|transcript|NM_021088.3|protein_coding||c.-11235_-11234insA|||||424|,CA|intergenic_region|MODIFIER|ZNF514-ZNF2|ZNF514-ZNF2|intergenic_region|ZNF514-ZNF2|||n.95164992_95164993insA||||||;p3_1000G_AC=3900;p3_1000G_AF=0.778754;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=17911;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.7624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95830737;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,27:27:81:858,81,0
chr2	95181806	rs370909020	G	A	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.893;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=6.075;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.32;ReadPosRankSum=1.43;SOR=0.808;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370909020;dbSNPBuildID=138;ANN=A|synonymous_variant|LOW|ZNF2|ZNF2|transcript|NM_001291605.1|protein_coding|5/5|c.1017G>A|p.Ser339Ser|1500/4010|1017/1317|339/438||,A|synonymous_variant|LOW|ZNF2|ZNF2|transcript|NM_001017396.2|protein_coding|4/4|c.852G>A|p.Ser284Ser|1389/3899|852/1152|284/383||,A|synonymous_variant|LOW|ZNF2|ZNF2|transcript|NM_001282398.1|protein_coding|4/4|c.864G>A|p.Ser288Ser|1347/3857|864/1164|288/387||,A|synonymous_variant|LOW|ZNF2|ZNF2|transcript|NM_001291604.1|protein_coding|3/3|c.738G>A|p.Ser246Ser|1275/3785|738/1038|246/345||,A|synonymous_variant|LOW|ZNF2|ZNF2|transcript|NM_021088.3|protein_coding|5/5|c.978G>A|p.Ser326Ser|1461/3971|978/1278|326/425||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19955;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95847554;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4101;ESP6500_AA_GTC=0,1,2050;ESP6500_CDS_SIZES=NM_021088.2:1281,NM_001017396.1:1155;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=72;ESP6500_EA_AC=0,8434;ESP6500_EA_GTC=0,0,4217;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021088.2:coding-synonymous,NM_001017396.1:coding-synonymous;ESP6500_GL=ZNF2;ESP6500_GRCh38_POSITION=2:95181806;ESP6500_GTC=0,1,6267;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021088.2:c.981G>A,NM_001017396.1:c.855G>A;ESP6500_HGVS_PROTEIN_VAR=NM_021088.2:p.(S327),NM_001017396.1:p.(S285);ESP6500_MAF=0.0,0.0244,0.0080;ESP6500_TAC=1,12535	GT:AD:DP:GQ:PL	0/1:21,10:31:99:224,0,623
chr2	95243863	rs4334525	C	T	120.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.27;QD=30.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4334525;dbSNPBuildID=111;ANN=T|intergenic_region|MODIFIER|ZNF2-PROM2|ZNF2-PROM2|intergenic_region|ZNF2-PROM2|||n.95243863C>T||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:148,12,0
chr2	95278884	rs35034822	T	G	429.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.55;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=5.081;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.84;SOR=0.438;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35034822;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165977.2|protein_coding|9/23|c.1114+100T>G||||||,G|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165978.2|protein_coding|9/23|c.1114+100T>G||||||,G|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001321070.1|protein_coding|9/23|c.76+100T>G||||||,G|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_144707.3|protein_coding|9/23|c.1114+100T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=114;p3_1000G_AF=0.0227636;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=15603;p3_1000G_EAS_AF=0.0575;p3_1000G_EUR_AF=0.0298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95944632;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,15:36:99:458,0,650
chr2	95279820	rs7585914	G	A	905.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.45;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7585914;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165977.2|protein_coding|10/23|c.1275-25G>A||||||,A|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165978.2|protein_coding|10/23|c.1275-25G>A||||||,A|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001321070.1|protein_coding|10/23|c.237-25G>A||||||,A|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_144707.3|protein_coding|10/23|c.1275-25G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3937;p3_1000G_AF=0.786142;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=17979;p3_1000G_EAS_AF=0.6687;p3_1000G_EUR_AF=0.7594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95945568;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3738,668;ESP6500_AA_AGE=764.4+/-413.3;ESP6500_AA_GTC=1583,572,48;ESP6500_CDS_SIZES=NM_144707.2:2505,NM_001165978.1:2505,NM_001165977.1:2505;ESP6500_CG=2.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=90;ESP6500_EA_AC=6482,2118;ESP6500_EA_AGE=715.4+/-406.1;ESP6500_EA_GTC=2431,1620,249;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144707.2:intron,NM_001165978.1:intron,NM_001165977.1:intron;ESP6500_GL=PROM2;ESP6500_GRCh38_POSITION=2:95279820;ESP6500_GTC=4014,2192,297;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144707.2:c.1275-25G>A,NM_001165978.1:c.1275-25G>A,NM_001165977.1:c.1275-25G>A;ESP6500_MAF=24.6279,15.1611,21.4209;ESP6500_TAC=10220,2786	GT:AD:DP:GQ:PL	1/1:0,33:33:99:934,99,0
chr2	95280082	rs7586229	G	T	246.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7586229;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165977.2|protein_coding|11/23|c.1427+85G>T||||||,T|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165978.2|protein_coding|11/23|c.1427+85G>T||||||,T|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001321070.1|protein_coding|11/23|c.389+85G>T||||||,T|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_144707.3|protein_coding|11/23|c.1427+85G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3939;p3_1000G_AF=0.786542;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=19184;p3_1000G_EAS_AF=0.6687;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95945830;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:275,21,0
chr2	95281337	rs12992066	A	G	849.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12992066;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|PROM2|PROM2|transcript|NM_001165977.2|protein_coding|12/24|c.1523A>G|p.Gln508Arg|1661/2928|1523/2505|508/834||,G|missense_variant|MODERATE|PROM2|PROM2|transcript|NM_001165978.2|protein_coding|12/24|c.1523A>G|p.Gln508Arg|1661/4737|1523/2505|508/834||,G|missense_variant|MODERATE|PROM2|PROM2|transcript|NM_001321070.1|protein_coding|12/24|c.485A>G|p.Gln162Arg|1652/3819|485/1467|162/488||,G|missense_variant|MODERATE|PROM2|PROM2|transcript|NM_144707.3|protein_coding|12/24|c.1523A>G|p.Gln508Arg|1661/3828|1523/2505|508/834||;p3_1000G_AA=G|||;p3_1000G_AC=4005;p3_1000G_AF=0.79972;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=14828;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.7664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95947085;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3875,531;ESP6500_AA_AGE=241.2+/-251.7;ESP6500_AA_GTC=1700,475,28;ESP6500_CDS_SIZES=NM_144707.2:2505,NM_001165978.1:2505,NM_001165977.1:2505;ESP6500_CG=-3.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=66;ESP6500_EA_AC=6496,2104;ESP6500_EA_AGE=364.1+/-333.4;ESP6500_EA_GTC=2445,1606,249;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144707.2:missense,NM_001165978.1:missense,NM_001165977.1:missense;ESP6500_GL=PROM2;ESP6500_GRCh38_POSITION=2:95281337;ESP6500_GS=43,43,43;ESP6500_GTC=4145,2081,277;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144707.2:c.1523A>G,NM_001165978.1:c.1523A>G,NM_001165977.1:c.1523A>G;ESP6500_HGVS_PROTEIN_VAR=NM_144707.2:p.(Q508R),NM_001165978.1:p.(Q508R),NM_001165977.1:p.(Q508R);ESP6500_MAF=24.4651,12.0517,20.2599;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10371,2635	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:95281337_A_G:878,81,0
chr2	95286429	rs7602232	C	G	511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7602232;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165977.2|protein_coding|16/23|c.1948-50C>G||||||,G|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165978.2|protein_coding|16/23|c.1948-50C>G||||||,G|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001321070.1|protein_coding|16/23|c.910-50C>G||||||,G|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_144707.3|protein_coding|16/23|c.1948-50C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4964;p3_1000G_AF=0.991214;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=13307;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9732;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95952177;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9888;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4376,30;ESP6500_AA_AGE=34.3+/-65.2;ESP6500_AA_GTC=2173,30,0;ESP6500_CDS_SIZES=NM_144707.2:2505,NM_001165978.1:2505,NM_001165977.1:2505;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=25;ESP6500_EA_AC=8334,266;ESP6500_EA_AGE=98.8+/-160.4;ESP6500_EA_GTC=4038,258,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144707.2:intron,NM_001165978.1:intron,NM_001165977.1:intron;ESP6500_GL=PROM2;ESP6500_GRCh38_POSITION=2:95286429;ESP6500_GTC=6211,288,4;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_144707.2:c.1948-50C>G,NM_001165978.1:c.1948-50C>G,NM_001165977.1:c.1948-50C>G;ESP6500_MAF=3.093,0.6809,2.2759;ESP6500_TAC=12710,296	GT:AD:DP:GQ:PL	1/1:0,14:14:42:540,42,0
chr2	95286455	rs117646334	G	C	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.83;SOR=1.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117646334;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165977.2|protein_coding|16/23|c.1948-24G>C||||||,C|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001165978.2|protein_coding|16/23|c.1948-24G>C||||||,C|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_001321070.1|protein_coding|16/23|c.910-24G>C||||||,C|intron_variant|MODIFIER|PROM2|PROM2|transcript|NM_144707.3|protein_coding|16/23|c.1948-24G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=72;p3_1000G_AF=0.014377;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12523;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95952203;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_144707.2:2505,NM_001165978.1:2505,NM_001165977.1:2505;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=46;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144707.2:intron,NM_001165978.1:intron,NM_001165977.1:intron;ESP6500_GL=PROM2;ESP6500_GRCh38_POSITION=2:95286455;ESP6500_GTC=0,4,6499;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_144707.2:c.1948-24G>C,NM_001165978.1:c.1948-24G>C,NM_001165977.1:c.1948-24G>C;ESP6500_MAF=0.0349,0.0227,0.0308;ESP6500_TAC=4,13002	GT:AD:DP:GQ:PL	0/1:12,7:19:99:232,0,357
chr2	95297494	rs2248415	C	G	257.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2248415;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|KCNIP3|KCNIP3|transcript|NM_013434.4|protein_coding|1/8|c.15+41C>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3703;p3_1000G_AF=0.739417;p3_1000G_AFR_AF=0.9175;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=7506;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.7485;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=95963242;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:286,24,0
chr2	95347159	rs7602807	C	G	1285.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=1.055;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7602807;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|KCNIP3|KCNIP3|transcript|NM_013434.4|protein_coding|2/8|c.182-27137C>G||||||,G|intron_variant|MODIFIER|KCNIP3|KCNIP3|transcript|NM_001034914.1|protein_coding|1/7|c.103+37C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3707;p3_1000G_AF=0.740216;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=12950;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96012907;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3860,538;ESP6500_AA_GTC=1691,478,30;ESP6500_CDS_SIZES=NM_013434.4:771,NM_001034914.1:693;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=6446,2154;ESP6500_EA_GTC=2416,1614,270;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013434.4:intron,NM_001034914.1:intron;ESP6500_GL=KCNIP3;ESP6500_GRCh38_POSITION=2:95347159;ESP6500_GTC=4107,2092,300;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_013434.4:c.182-27137C>G,NM_001034914.1:c.103+37C>G;ESP6500_MAF=25.0465,12.2328,20.7109;ESP6500_TAC=10306,2692	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1314,129,0
chr2	95384169	rs375367798;rs58903840	T	TAC	171.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.62;ReadPosRankSum=0.157;SOR=1.402;INS;HET;VARTYPE=INS;dbSNPBuildID=138,129;ANN=TAC|3_prime_UTR_variant|MODIFIER|KCNIP3|KCNIP3|transcript|NM_013434.4|protein_coding|9/9|c.*156_*157dupCA|||||158|INFO_REALIGN_3_PRIME,TAC|3_prime_UTR_variant|MODIFIER|KCNIP3|KCNIP3|transcript|NM_001034914.1|protein_coding|8/8|c.*156_*157dupCA|||||158|INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,5:6:2:165,0,2
chr2	95518675	rs1862896	C	A	118.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1862896;dbSNPBuildID=92;ANN=A|intergenic_region|MODIFIER|TRIM43B-TRIM43|TRIM43B-TRIM43|intergenic_region|TRIM43B-TRIM43|||n.95518675C>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=4630;p3_1000G_AF=0.924521;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=19878;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.9145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96184423;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr2	95519966	rs35256168	C	T	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.649;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.379;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35256168;dbSNPBuildID=126;ANN=T|intergenic_region|MODIFIER|TRIM43B-TRIM43|TRIM43B-TRIM43|intergenic_region|TRIM43B-TRIM43|||n.95519966C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1517;p3_1000G_AF=0.302915;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=18984;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96185714;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:313,0,430
chr2	95595231	rs7565318	T	C	405.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.94;QD=28.85;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7565318;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TRIM43|TRIM43|transcript|NM_138800.1|protein_coding|3/6|c.507+86T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=4626;p3_1000G_AF=0.923722;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=15638;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.9095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96260979;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:434,33,0
chr2	95792492	rs2544491	C	G	29.75	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24.19;QD=14.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs372435354;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|TRIM43-LINC00342|TRIM43-LINC00342|intergenic_region|TRIM43-LINC00342|||n.95792492C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=55;p3_1000G_AF=0.0109824;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=16766;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96458240;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0
chr2	95852035	rs113889919;rs3037107	CTAA	C	85.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.514;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=55.71;MQRankSum=-4.139;QD=4.51;ReadPosRankSum=-0.478;SOR=0.26;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3037107,rs113889919;dbSNPBuildID=132,102;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|86/88|c.6317+88_6317+90delTTA||||||	GT:AD:DP:GQ:PL	0/1:15,4:19:99:123,0,696
chr2	95855359	rs115953176	G	T	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.041;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=4.18;MLEAC=1;MLEAF=0.5;MQ=56.59;MQRankSum=-3.438;QD=9.37;ReadPosRankSum=-0.022;SOR=1.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115953176;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.6000C>A|p.Leu2000Leu|6612/8072|6000/6435|2000/2144||;p3_1000G_AA=g|||;p3_1000G_AC=286;p3_1000G_AF=0.0571086;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=20713;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96521107;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,19:45:99:450,0,763
chr2	95855390	rs5005871	T	C	822.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.8;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=13.604;MLEAC=1;MLEAF=0.5;MQ=53.53;MQRankSum=-5.992;QD=10.83;ReadPosRankSum=-4.03;SOR=2.247;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5005871;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.5969A>G|p.Asn1990Ser|6581/8072|5969/6435|1990/2144||	GT:AD:DP:GQ:PL	0/1:49,27:76:99:851,0,1313
chr2	95855406	rs77972623	C	G	60.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.145;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.35;MQRankSum=-4.183;QD=0.71;ReadPosRankSum=-0.933;SOR=0.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77972623;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.5953G>C|p.Asp1985His|6565/8072|5953/6435|1985/2144||	GT:AD:DP:GQ:PL	0/1:75,11:86:89:89,0,2961
chr2	95855472	rs5005870	G	A	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.973;ClippingRankSum=0;DP=128;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.01;MQRankSum=-4.636;QD=4.21;ReadPosRankSum=-0.29;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5005870;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.5887C>T|p.Leu1963Leu|6499/8072|5887/6435|1963/2144||	GT:AD:DP:GQ:PL	0/1:91,37:128:99:567,0,2561
chr2	95855532	rs112858216	T	G	45.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.491;ClippingRankSum=0;DP=109;ExcessHet=3.0103;FS=4.263;MLEAC=1;MLEAF=0.5;MQ=44.83;MQRankSum=-2.379;QD=0.42;ReadPosRankSum=-0.561;SOR=1.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368481693;dbSNPBuildID=132;ANN=G|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.5827A>C|p.Ile1943Leu|6439/8072|5827/6435|1943/2144||	GT:AD:DP:GQ:PL	0/1:96,13:109:74:74,0,2601
chr2	95855549	rs5005869	T	C	1341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.594;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=21.749;MLEAC=1;MLEAF=0.5;MQ=44.27;MQRankSum=-7.863;QD=12.66;ReadPosRankSum=0.714;SOR=1.668;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5005869;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.5810A>G|p.Asn1937Ser|6422/8072|5810/6435|1937/2144||	GT:AD:DP:GQ:PL	0/1:54,52:106:99:1370,0,1527
chr2	95855576	rs5005868	A	G	903.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.6;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=32.133;MLEAC=1;MLEAF=0.5;MQ=47.42;MQRankSum=-6.988;QD=10.39;ReadPosRankSum=-0.618;SOR=2.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5005868;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.5783T>C|p.Ile1928Thr|6395/8072|5783/6435|1928/2144||	GT:AD:DP:GQ:PL	0/1:56,31:87:99:932,0,1655
chr2	95855586	rs201192250	T	C	41.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.08;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=2.991;MLEAC=1;MLEAF=0.5;MQ=48.07;MQRankSum=-3.125;QD=0.5;ReadPosRankSum=-2.629;SOR=1.322;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201192250;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.5773A>G|p.Met1925Val|6385/8072|5773/6435|1925/2144||	GT:AD:DP:GQ:PL	0/1:73,10:83:70:70,0,2900
chr2	95855588	rs5005867	T	C	740.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.18;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=40.31;MLEAC=1;MLEAF=0.5;MQ=48.14;MQRankSum=-6.606;QD=9.03;ReadPosRankSum=-2.489;SOR=3.599;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5005867;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|84/89|c.5771A>G|p.Gln1924Arg|6383/8072|5771/6435|1924/2144||	GT:AD:DP:GQ:PL	0/1:56,26:82:99:769,0,1557
chr2	95857258	rs12717776	A	C	511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52;QD=30.59;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12717776;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|83/88|c.5178+51T>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4195;p3_1000G_AF=0.83766;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=14596;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96523006;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:95857258_A_C:540,36,0
chr2	95857261	rs12717777	A	C	511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52;QD=27.9;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12717777;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|83/88|c.5178+48T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4195;p3_1000G_AF=0.83766;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=14552;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96523009;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:95857258_A_C:540,36,0
chr2	95857299	rs12717778	A	G	442.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.67;QD=29.52;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12717778;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|83/88|c.5178+10T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4158;p3_1000G_AF=0.830272;p3_1000G_AFR_AF=0.9357;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=14681;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.7594;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96523047;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:471,45,0
chr2	95857348	rs10211258	T	C	770.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.31;QD=28.55;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10211258;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|83/89|c.5139A>G|p.Ala1713Ala|5751/8072|5139/6435|1713/2144||;p3_1000G_AA=N|||;p3_1000G_AC=3319;p3_1000G_AF=0.66274;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=15237;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.6879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96523096;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:799,81,0
chr2	95859892	rs77864759	G	T	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.049;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.93;MQRankSum=-0.574;QD=0.45;ReadPosRankSum=-0.234;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77864759;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4963C>A|p.Leu1655Ile|5575/8072|4963/6435|1655/2144||	GT:AD:DP:GQ:PL	0/1:28,3:31:42:42,0,914
chr2	95859895	rs75198192	T	C	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=2.028;MLEAC=1;MLEAF=0.5;MQ=58.06;MQRankSum=-0.443;QD=2.81;ReadPosRankSum=-0.176;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75198192;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4960A>G|p.Thr1654Ala|5572/8072|4960/6435|1654/2144||	GT:AD:DP:GQ:PL	0/1:28,5:33:99:121,0,1191
chr2	95859904	rs77710257	T	C	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.27;MQRankSum=-0.834;QD=7.1;ReadPosRankSum=0.549;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77710257;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4951A>G|p.Lys1651Glu|5563/8072|4951/6435|1651/2144||	GT:AD:DP:GQ:PL	0/1:28,9:37:99:291,0,726
chr2	95859969	rs111957693	A	AT	336.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.082;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.245;MLEAC=1;MLEAF=0.5;MQ=59.29;MQRankSum=-4.841;QD=6.12;ReadPosRankSum=1.35;SOR=0.966;INS;HET;VARTYPE=INS;dbSNP138_ID=rs111957693;dbSNPBuildID=132;ANN=AT|frameshift_variant|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4885_4886insA|p.Leu1629fs|5497/8072|4885/6435|1629/2144||;LOF=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:43,12:55:99:0|1:95859969_A_AT:374,0,1763
chr2	95859970	rs77057279	G	T	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.213;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.245;MLEAC=1;MLEAF=0.5;MQ=59.29;MQRankSum=-4.841;QD=6.29;ReadPosRankSum=1.23;SOR=0.966;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77057279;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4885C>A|p.Leu1629Met|5497/8072|4885/6435|1629/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:43,12:55:99:0|1:95859969_A_AT:374,0,1763
chr2	95859975	rs77757712	C	T	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.136;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.29;MQRankSum=-4.841;QD=6.23;ReadPosRankSum=0.907;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77757712;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4880G>A|p.Arg1627Gln|5492/8072|4880/6435|1627/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:43,12:55:99:0|1:95859969_A_AT:371,0,1795
chr2	95859988	rs78585559	T	C	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.307;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.28;MQRankSum=-5.37;QD=4.81;ReadPosRankSum=1.13;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78585559;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4867A>G|p.Arg1623Gly|5479/8072|4867/6435|1623/2144||	GT:AD:DP:GQ:PL	0/1:44,10:54:99:288,0,1089
chr2	95860007	rs77658288	A	T	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.512;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.25;MQRankSum=-4.834;QD=5.31;ReadPosRankSum=-0.912;SOR=0.703;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77658288;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4848T>A|p.Asp1616Glu|5460/8072|4848/6435|1616/2144||	GT:AD:DP:GQ:PL	0/1:39,9:48:99:283,0,988
chr2	95860020	rs78780931	G	A	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.25;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.554;MLEAC=1;MLEAF=0.5;MQ=59.2;MQRankSum=-5.007;QD=4.84;ReadPosRankSum=-1.812;SOR=0.996;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78780931;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4835C>T|p.Thr1612Ile|5447/8072|4835/6435|1612/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,8:45:99:0|1:95860020_G_A:246,0,1499
chr2	95860023	rs74941794	A	C	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.17;MQRankSum=-4.879;QD=4.65;ReadPosRankSum=-2.326;SOR=0.955;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74941794;dbSNPBuildID=131;ANN=C|stop_gained|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4832T>G|p.Leu1611*|5444/8072|4832/6435|1611/2144||;LOF=(ANKRD36C|ANKRD36C|1|1.00);NMD=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,8:43:99:0|1:95860020_G_A:228,0,1467
chr2	95860034	rs75657861	T	C	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=59.68;MQRankSum=-5.463;QD=2.97;ReadPosRankSum=-1.309;SOR=1.199;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75657861;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4821A>G|p.Leu1607Leu|5433/8072|4821/6435|1607/2144||;p3_1000G_AA=.|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17922;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96525782;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:35,5:40:99:147,0,921
chr2	95860046	rs79908880	C	A	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.139;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.453;MLEAC=1;MLEAF=0.5;MQ=59.64;MQRankSum=-5.776;QD=2.54;ReadPosRankSum=-1.508;SOR=2.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79908880;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|82/89|c.4809G>T|p.Lys1603Asn|5421/8072|4809/6435|1603/2144||	GT:AD:DP:GQ:PL	0/1:31,4:35:99:117,0,912
chr2	95888024	rs4907218	G	C	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.236;MLEAC=1;MLEAF=0.5;MQ=51.08;MQRankSum=-5.697;QD=13.12;ReadPosRankSum=-0.362;SOR=0.644;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4907218;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|70/88|c.4084-27C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=2015;p3_1000G_AF=0.402356;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=19194;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.3439;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96553772;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,19:39:99:540,0,487
chr2	95891199	rs147445200	C	G	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.423;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=0.876;SOR=0.045;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147445200;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|67/88|c.3952+466G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=75;p3_1000G_AF=0.014976;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=18734;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96556947;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:65:65,0,222
chr2	95893631	rs376507683	TAAATA	T	466.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.702;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.01;MQRankSum=1.47;QD=17.29;ReadPosRankSum=-0.36;SOR=0.836;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs376507683;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|64/88|c.3778-31_3778-27delTATTT||||||;p3_1000G_AC=31;p3_1000G_AF=0.0061901;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20063;p3_1000G_EAS_AF=0.0268;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96559379;p3_1000G_GRCH37_REF=TAAATA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:14,13:27:99:504,0,899
chr2	95896992	rs202126216	G	C	43.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37.16;MQRankSum=1.38;QD=10.94;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202126216;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|61/88|c.3646+278C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=294;p3_1000G_AF=0.0587061;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=18223;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96562740;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:55:72,0,55
chr2	95903074	rs116437777	T	A	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.58;MQRankSum=-3.923;QD=15.24;ReadPosRankSum=0.776;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116437777;dbSNPBuildID=132;ANN=A|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|54/89|c.3246A>T|p.Ser1082Ser|3858/8072|3246/6435|1082/2144||	GT:AD:DP:GQ:PL	0/1:7,9:16:99:272,0,157
chr2	95921748	rs56791141	C	T	29.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.95;ReadPosRankSum=0.126;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56791141;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|34/88|c.2247+34G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2001;p3_1000G_AF=0.399561;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=17002;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96587496;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:58:58,0,112
chr2	95927222	rs745741068	G	GAT	139.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.561;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=8.506;MLEAC=1;MLEAF=0.5;MQ=54.99;MQRankSum=-4.502;QD=4.51;ReadPosRankSum=-2.301;SOR=3.185;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=GAT|frameshift_variant|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|28/89|c.1929_1930dupAT|p.Ser644fs|2542/8072|1930/6435|644/2144||;LOF=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,6:31:99:0|1:95927222_G_GAT:177,0,1032
chr2	95927226	rs772059065	GTT	G	130.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=8.47;MLEAC=1;MLEAF=0.5;MQ=55.15;MQRankSum=-4.568;QD=4.09;ReadPosRankSum=-2.101;SOR=3.069;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|frameshift_variant|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|28/89|c.1925_1926delAA|p.Gln642fs|2538/8072|1925/6435|642/2144||;LOF=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,6:32:99:0|1:95927222_G_GAT:168,0,1158
chr2	95927234	rs758839836	T	C	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.195;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.515;MLEAC=1;MLEAF=0.5;MQ=54.64;MQRankSum=-5.315;QD=8.74;ReadPosRankSum=-2.381;SOR=1.524;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|28/89|c.1919A>G|p.Glu640Gly|2531/8072|1919/6435|640/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,10:39:99:0|1:95927222_G_GAT:369,0,1269
chr2	95927252	rs111976783	A	G	795.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.202;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.158;MLEAC=1;MLEAF=0.5;MQ=53.01;MQRankSum=-6.482;QD=15.3;ReadPosRankSum=-2.395;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111976783;dbSNPBuildID=132;ANN=G|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|28/89|c.1901T>C|p.Ile634Thr|2513/8072|1901/6435|634/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,19:52:99:0|1:95927222_G_GAT:824,0,1319
chr2	95927268	rs79307257	C	A	1014.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.349;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.2;MQRankSum=-7.001;QD=14.92;ReadPosRankSum=-0.031;SOR=0.713;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79307257;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|28/89|c.1885G>T|p.Asp629Tyr|2497/8072|1885/6435|629/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:41,27:68:99:0|1:95927222_G_GAT:1043,0,1634
chr2	95927277	rs75189823	C	T	1020.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.242;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.42;MQRankSum=-6.943;QD=15.24;ReadPosRankSum=-0.006;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75189823;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|28/89|c.1876G>A|p.Asp626Asn|2488/8072|1876/6435|626/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:38,29:67:99:0|1:95927222_G_GAT:1049,0,1550
chr2	95927300	rs371586106	G	GA	1071.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.932;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=2.043;MLEAC=1;MLEAF=0.5;MQ=52.04;MQRankSum=-6.741;QD=16.75;ReadPosRankSum=1.29;SOR=0.864;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GA|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|27/88|c.1867-15dupT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,29:64:99:0|1:95927300_G_GA:1109,0,1402
chr2	95927309	rs145613523;rs78433315	TAATC	T	1071.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.975;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=2.105;MLEAC=1;MLEAF=0.5;MQ=52.43;MQRankSum=-6.868;QD=16.75;ReadPosRankSum=1.84;SOR=0.787;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs145613523,rs78433315;dbSNPBuildID=134,131;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|27/88|c.1867-27_1867-24delGATT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,29:64:99:0|1:95927300_G_GA:1109,0,1414
chr2	95927352	rs112413192	G	A	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.528;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=1.119;MLEAC=1;MLEAF=0.5;MQ=53.45;MQRankSum=-5.444;QD=3.33;ReadPosRankSum=0.185;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112413192;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|27/88|c.1866+29C>T||||||	GT:AD:DP:GQ:PL	0/1:46,16:62:99:235,0,1706
chr2	95927360	rs113130326	T	G	873.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.763;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=2.17;MLEAC=1;MLEAF=0.5;MQ=53.1;MQRankSum=-7.207;QD=14.81;ReadPosRankSum=-0.371;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113130326;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|27/88|c.1866+21A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,24:59:99:0|1:95927360_T_G:902,0,1361
chr2	95927370	rs372163659	T	A	831.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.241;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.313;MLEAC=1;MLEAF=0.5;MQ=53.64;MQRankSum=-7.111;QD=14.59;ReadPosRankSum=-1.222;SOR=0.417;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372163659;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|27/88|c.1866+11A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,22:57:99:0|1:95927360_T_G:860,0,1385
chr2	95928987	rs75927751	C	T	910.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.892;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.942;MLEAC=1;MLEAF=0.5;MQ=46.31;MQRankSum=-4.367;QD=29.38;ReadPosRankSum=0.896;SOR=0.256;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75927751;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/88|c.1837+85G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,22:31:99:0|1:95928987_C_T:939,0,309
chr2	95928994	rs75729585	C	T	907.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.015;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.938;MLEAC=1;MLEAF=0.5;MQ=45.91;MQRankSum=-4.391;QD=28.37;ReadPosRankSum=0.294;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75729585;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/88|c.1837+78G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,23:32:99:0|1:95928987_C_T:936,0,351
chr2	95929011	rs75830348	G	A	850.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.424;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.42;MQRankSum=-5.287;QD=22.99;ReadPosRankSum=1.38;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75830348;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/88|c.1837+61C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,22:37:99:0|1:95928987_C_T:879,0,564
chr2	95929019	rs76282476	A	C	718.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.25;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.547;MLEAC=1;MLEAF=0.5;MQ=48.57;MQRankSum=-5.216;QD=22.46;ReadPosRankSum=1.3;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76282476;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/88|c.1837+53T>G||||||	GT:AD:DP:GQ:PL	0/1:15,17:32:99:747,0,609
chr2	95929029	rs78943121	C	T	763.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.795;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.64;MQRankSum=-5.3;QD=21.82;ReadPosRankSum=0.629;SOR=0.922;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78943121;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/88|c.1837+43G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,19:35:99:0|1:95928987_C_T:792,0,612
chr2	95929043	rs79976205	A	G	712.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.93;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.463;MLEAC=1;MLEAF=0.5;MQ=49.55;MQRankSum=-5.639;QD=18.76;ReadPosRankSum=-0.073;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79976205;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/88|c.1837+29T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,19:38:99:0|1:95928987_C_T:741,0,741
chr2	95929054	rs76998771	A	T	681.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.837;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.463;MLEAC=1;MLEAF=0.5;MQ=48.84;MQRankSum=-5.645;QD=17.94;ReadPosRankSum=-0.949;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76998771;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/88|c.1837+18T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,19:38:99:0|1:95928987_C_T:710,0,736
chr2	95929092	rs76434426	T	C	993.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.14;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.589;MLEAC=1;MLEAF=0.5;MQ=45.75;MQRankSum=-5.749;QD=19.11;ReadPosRankSum=-2.116;SOR=1.219;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76434426;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/89|c.1817A>G|p.Glu606Gly|2429/8072|1817/6435|606/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,27:52:99:0|1:95929092_T_C:1022,0,943
chr2	95929110	rs80159651	A	G	1221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.37;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=14.956;MLEAC=1;MLEAF=0.5;MQ=43.23;MQRankSum=-5.509;QD=19.39;ReadPosRankSum=-0.282;SOR=2.428;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80159651;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/89|c.1799T>C|p.Ile600Thr|2411/8072|1799/6435|600/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,32:63:99:0|1:95929092_T_C:1250,0,1205
chr2	95929126	rs79434735	C	A	1647.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.755;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=18.215;MLEAC=1;MLEAF=0.5;MQ=41.32;MQRankSum=-5.612;QD=23.21;ReadPosRankSum=-1.229;SOR=2.69;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79434735;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/89|c.1783G>T|p.Asp595Tyr|2395/8072|1783/6435|595/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,42:71:99:0|1:95929092_T_C:1676,0,1091
chr2	95929130	rs375866621	G	C	1725.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.99;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=14.931;MLEAC=1;MLEAF=0.5;MQ=41.28;MQRankSum=-5.691;QD=23.64;ReadPosRankSum=-0.223;SOR=2.484;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375866621;dbSNPBuildID=138;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/89|c.1779C>G|p.Asp593Glu|2391/8072|1779/6435|593/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,42:73:99:0|1:95929092_T_C:1754,0,1169
chr2	95929133	rs111499669	G	A	1764.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.534;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=17.877;MLEAC=1;MLEAF=0.5;MQ=40.75;MQRankSum=-5.291;QD=23.22;ReadPosRankSum=-0.486;SOR=2.632;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111499669;dbSNPBuildID=132;ANN=A|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/89|c.1776C>T|p.Asp592Asp|2388/8072|1776/6435|592/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,45:76:99:0|1:95929092_T_C:1793,0,1188
chr2	95929135	rs111462973	C	T	1764.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.035;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=20.376;MLEAC=1;MLEAF=0.5;MQ=40.63;MQRankSum=-5.108;QD=22.92;ReadPosRankSum=-0.026;SOR=2.761;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111462973;dbSNPBuildID=132;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|26/89|c.1774G>A|p.Asp592Asn|2386/8072|1774/6435|592/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:32,45:77:99:0|1:95929092_T_C:1793,0,1188
chr2	95929158	rs141793716	G	GA	2388.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=10.448;MLEAC=1;MLEAF=0.5;MQ=38.29;MQRankSum=-4.803;QD=27.46;ReadPosRankSum=-0.322;SOR=1.825;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141793716;dbSNPBuildID=134;ANN=GA|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|25/88|c.1765-15dupT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,57:87:99:0|1:95929158_G_GA:2426,0,1110
chr2	95929167	rs367944682	TAATC	T	2580.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=7.682;MLEAC=1;MLEAF=0.5;MQ=36.96;MQRankSum=-4.982;QD=27.17;ReadPosRankSum=-0.459;SOR=1.538;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs367944682;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|25/88|c.1765-27_1765-24delGATT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:32,63:95:99:0|1:95929158_G_GA:2618,0,1163
chr2	95929176	rs199914667	T	C	2698.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.34;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=5.853;MLEAC=1;MLEAF=0.5;MQ=35.64;MQRankSum=-4.719;QD=26.72;ReadPosRankSum=-4.453;SOR=1.424;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199914667;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|25/88|c.1765-32A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,70:101:99:0|1:95929158_G_GA:2727,0,1120
chr2	95929210	rs1988084	G	A	1542.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.086;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=5.689;MLEAC=1;MLEAF=0.5;MQ=35.92;MQRankSum=-2.061;QD=13.19;ReadPosRankSum=0.071;SOR=0.973;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112265071;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|25/88|c.1764+29C>T||||||	GT:AD:DP:GQ:PL	0/1:53,64:117:99:1571,0,1690
chr2	95929218	rs62153708	T	G	3193.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.876;ClippingRankSum=0;DP=120;ExcessHet=3.0103;FS=5.238;MLEAC=1;MLEAF=0.5;MQ=36.41;MQRankSum=-3.171;QD=26.61;ReadPosRankSum=-0.53;SOR=0.644;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201848091;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|25/88|c.1764+21A>C||||||	GT:AD:DP:GQ:PL	0/1:31,89:120:99:3222,0,580
chr2	95929284	rs62153723	A	T	2200.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=3.34;MLEAC=1;MLEAF=0.5;MQ=37.51;MQRankSum=-4.14;QD=20.38;ReadPosRankSum=0.105;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200034240;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|24/88|c.1736-17T>A||||||	GT:AD:DP:GQ:PL	0/1:24,84:108:99:2229,0,441
chr2	95929356	.	A	G	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.1;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.11;MQRankSum=0.017;QD=0.21;ReadPosRankSum=0.574;SOR=0.798;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|24/88|c.1736-89T>C||||||	GT:AD:DP:GQ:PL	0/1:43,5:48:38:38,0,1725
chr2	95929362	rs62153724	G	A	1091.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.227;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.75;MQRankSum=-3.41;QD=24.26;ReadPosRankSum=0.192;SOR=0.726;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201012746;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|24/88|c.1736-95C>T||||||	GT:AD:DP:GQ:PL	0/1:10,35:45:99:1120,0,232
chr2	95935389	rs75682170	G	A	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.97;MQRankSum=-1.645;QD=9.35;ReadPosRankSum=-0.842;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200886605;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|24/88|c.1735+65C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:95935389_G_A:75,0,165
chr2	95935391	rs1187853269	T	C	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.97;MQRankSum=-1.645;QD=9.35;ReadPosRankSum=-0.842;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|24/88|c.1735+63A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:95935389_G_A:75,0,165
chr2	95935405	rs77548541	G	A	20.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.97;MQRankSum=-1.645;QD=4.16;ReadPosRankSum=1.04;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202028585;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|24/88|c.1735+49C>T||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:49:49,0,77
chr2	95935492	rs62153752	G	A	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.052;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=4.634;MLEAC=1;MLEAF=0.5;MQ=42.35;MQRankSum=-3.533;QD=15.04;ReadPosRankSum=1.5;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199988716;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|24/89|c.1697C>T|p.Ala566Val|2309/8072|1697/6435|566/2144||	GT:AD:DP:GQ:PL	0/1:6,12:18:99:299,0,129
chr2	95935548	rs145876416	A	ATGATTAAT	207.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.044;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=42.99;MQRankSum=-2.902;QD=9.89;ReadPosRankSum=-0.634;SOR=0.627;INS;HET;VARTYPE=INS;dbSNP138_ID=rs145876416;dbSNPBuildID=134;ANN=ATGATTAAT|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|23/88|c.1663-30_1663-23dupATTAATCA||||||	GT:AD:DP:GQ:PL	0/1:10,11:21:99:245,0,364
chr2	95935564	rs62153753	G	A	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.875;MLEAC=1;MLEAF=0.5;MQ=42.71;MQRankSum=-2.553;QD=2.62;ReadPosRankSum=0.534;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201144574;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|23/88|c.1663-38C>T||||||	GT:AD:DP:GQ:PL	0/1:18,6:24:91:91,0,380
chr2	95935597	rs74453630	T	C	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=42.38;MQRankSum=-2.691;QD=13.41;ReadPosRankSum=-0.248;SOR=1.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149389865;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|23/88|c.1662+19A>G||||||	GT:AD:DP:GQ:PL	0/1:8,11:19:99:283,0,163
chr2	95935616	rs62153754	C	T	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=8.82;MLEAC=1;MLEAF=0.5;MQ=42.07;MQRankSum=-3.222;QD=10.16;ReadPosRankSum=0.282;SOR=2.815;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148485539;dbSNPBuildID=129;ANN=T|splice_region_variant&synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|23/89|c.1662G>A|p.Thr554Thr|2274/8072|1662/6435|554/2144||	GT:AD:DP:GQ:PL	0/1:9,8:17:99:201,0,187
chr2	95938725	rs75003856	T	A	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.529;MLEAC=1;MLEAF=0.5;MQ=56.74;MQRankSum=-1.661;QD=5.26;ReadPosRankSum=0.105;SOR=0.225;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75003856;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|22/88|c.1633+104A>T||||||	GT:AD:DP:GQ:PL	0/1:44,17:61:99:349,0,1313
chr2	95938756	rs1181186216	A	G	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.059;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=4.17;MLEAC=1;MLEAF=0.5;MQ=54.7;MQRankSum=1.8;QD=0.13;ReadPosRankSum=-0.3;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|22/88|c.1633+73T>C||||||	GT:AD:DP:GQ:PL	0/1:83,10:93:40:40,0,2598
chr2	95938768	rs62154560	C	T	2093.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.378;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=2.326;MLEAC=1;MLEAF=0.5;MQ=53.86;MQRankSum=-4.692;QD=20.94;ReadPosRankSum=-2.672;SOR=0.416;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154560;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|22/88|c.1633+61G>A||||||	GT:AD:DP:GQ:PL	0/1:23,77:100:99:2122,0,523
chr2	95938843	rs62154561	A	G	4549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.348;ClippingRankSum=0;DP=206;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.17;MQRankSum=-5.643;QD=22.09;ReadPosRankSum=1.83;SOR=0.691;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154561;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|22/89|c.1619T>C|p.Leu540Pro|2231/8072|1619/6435|540/2144||	GT:AD:DP:GQ:PL	0/1:37,169:206:99:4578,0,488
chr2	95938884	rs62154562	A	T	3987.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.141;ClippingRankSum=0;DP=188;ExcessHet=3.0103;FS=2.221;MLEAC=1;MLEAF=0.5;MQ=52.17;MQRankSum=-4.726;QD=21.21;ReadPosRankSum=-0.695;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154562;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|22/89|c.1578T>A|p.Ser526Arg|2190/8072|1578/6435|526/2144||	GT:AD:DP:GQ:PL	0/1:41,147:188:99:4016,0,677
chr2	95938931	rs62154563	C	T	2230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.604;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=6.468;MLEAC=1;MLEAF=0.5;MQ=48.29;MQRankSum=-2.867;QD=17.57;ReadPosRankSum=-2.433;SOR=1.378;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154563;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|21/88|c.1561-30G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20849;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96604679;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:43,84:127:99:2259,0,1078
chr2	95938982	rs72933833	T	C	997.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.98;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=41.147;MLEAC=1;MLEAF=0.5;MQ=40.59;MQRankSum=-2.577;QD=16.63;ReadPosRankSum=0.067;SOR=5.232;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113311459;dbSNPBuildID=131;ANN=C|splice_region_variant&intron_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|21/88|c.1560+5A>G||||||	GT:AD:DP:GQ:PL	0/1:31,29:60:99:1026,0,911
chr2	95938999	rs202113195	C	T	185.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.674;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.769;MLEAC=1;MLEAF=0.5;MQ=37;MQRankSum=-1.121;QD=3.26;ReadPosRankSum=-0.777;SOR=1.552;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202113195;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|21/89|c.1548G>A|p.Pro516Pro|2160/8072|1548/6435|516/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:48,9:57:99:0|1:95938999_C_T:214,0,2022
chr2	95939017	rs202102082	T	G	212.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.1;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=3.901;MLEAC=1;MLEAF=0.5;MQ=35.88;MQRankSum=-0.57;QD=4.43;ReadPosRankSum=-0.748;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202102082;dbSNPBuildID=137;ANN=G|splice_acceptor_variant&intron_variant|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-2A>C||||||;LOF=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:40,8:48:99:0|1:95938999_C_T:241,0,1686
chr2	95939019	rs200143756	C	A	569.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.198;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=9.798;MLEAC=1;MLEAF=0.5;MQ=35.88;MQRankSum=-1.604;QD=12.95;ReadPosRankSum=0.83;SOR=2.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200143756;dbSNPBuildID=137;ANN=A|splice_region_variant&intron_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-4G>T||||||	GT:AD:DP:GQ:PL	0/1:25,19:44:99:598,0,978
chr2	95939023	rs201267012	G	A	884.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.101;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=12.293;MLEAC=1;MLEAF=0.5;MQ=35.85;MQRankSum=-1.136;QD=17.7;ReadPosRankSum=0.962;SOR=2.516;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201267012;dbSNPBuildID=137;ANN=A|splice_region_variant&intron_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-8C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,26:50:99:0|1:95939023_G_A:913,0,931
chr2	95939037	rs201789317	T	A	890.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.25;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.968;MLEAC=1;MLEAF=0.5;MQ=35.8;MQRankSum=-1.897;QD=18.95;ReadPosRankSum=0.228;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201789317;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-22A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,25:47:99:0|1:95939023_G_A:919,0,818
chr2	95939051	rs79127405	T	G	512.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.37;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.35;MQRankSum=-3.04;QD=13.15;ReadPosRankSum=1.81;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200229515;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-36A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,15:39:99:0|1:95939051_T_G:541,0,960
chr2	95939062	rs80063645	C	T	493.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.98;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.66;MQRankSum=-2.662;QD=14.52;ReadPosRankSum=1.15;SOR=0.72;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201295563;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-47G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,14:34:99:0|1:95939051_T_G:522,0,837
chr2	95939110	rs77086908	G	C	219.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.266;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.98;MQRankSum=-2.399;QD=9.56;ReadPosRankSum=-0.131;SOR=1.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201867826;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-95C>G||||||	GT:AD:DP:GQ:PL	0/1:14,9:23:99:248,0,401
chr2	95939149	rs2918902	T	C	22.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=11.139;MLEAC=1;MLEAF=0.5;MQ=46.16;MQRankSum=-2.135;QD=1.75;ReadPosRankSum=-0.501;SOR=2.207;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200460066;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-134A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,2:13:51:0|1:95939149_T_C:51,0,695
chr2	95939169	rs62154564	G	A	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.843;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.166;MLEAC=1;MLEAF=0.5;MQ=44.56;MQRankSum=-2.687;QD=7.65;ReadPosRankSum=-0.581;SOR=0.069;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80221054;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-154C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,5:15:99:0|1:95939149_T_C:143,0,664
chr2	95939837	rs75753771	G	A	18.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.611;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=55.24;MQRankSum=-2.1;QD=2.35;ReadPosRankSum=0.319;SOR=0.02;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75753771;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-822C>T||||||	GT:AD:DP:GQ:PL	0/1:6,2:8:47:47,0,224
chr2	95939853	rs76807157	G	A	15.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.915;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=6.532;MLEAC=1;MLEAF=0.5;MQ=55.54;MQRankSum=-2.2;QD=1.76;ReadPosRankSum=-1.732;SOR=0.016;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374967569;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-838C>T||||||	GT:AD:DP:GQ:PL	0/1:7,2:9:44:44,0,272
chr2	95939897	rs77106508	A	C	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=52.34;MQRankSum=-2.195;QD=1.12;ReadPosRankSum=0.34;SOR=2.279;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200347078;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-882T>G||||||	GT:AD:DP:GQ:PL	0/1:13,2:15:45:45,0,365
chr2	95940010	rs201565838	A	C	36.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.8;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.78;MLEAC=1;MLEAF=0.5;MQ=46.78;MQRankSum=-2.75;QD=1.67;ReadPosRankSum=0.767;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201565838;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-995T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,3:22:65:0|1:95940010_A_C:65,0,876
chr2	95940011	rs199768300	C	T	36.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.89;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=6.067;MLEAC=1;MLEAF=0.5;MQ=46.51;MQRankSum=-2.719;QD=1.75;ReadPosRankSum=0.655;SOR=0.889;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199768300;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|20/88|c.1532-996G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20033;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96605759;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,3:21:65:0|1:95940010_A_C:65,0,876
chr2	95944581	rs201777230	G	C	79.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.435;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.97;MQRankSum=-5.677;QD=1.95;ReadPosRankSum=-1.006;SOR=0.49;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201777230;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|19/88|c.1491+46C>G||||||	GT:AD:DP:GQ:PL	0/1:34,7:41:99:108,0,1014
chr2	95944647	rs147285461	C	CA	316.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.744;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.772;MLEAC=1;MLEAF=0.5;MQ=55.96;MQRankSum=-6.876;QD=6.09;ReadPosRankSum=0.634;SOR=1.15;INS;HET;VARTYPE=INS;dbSNP138_ID=rs147285461;dbSNPBuildID=134;ANN=CA|frameshift_variant|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|19/89|c.1470dupT|p.Glu491fs|2082/8072|1470/6435|490/2144||;LOF=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,13:52:99:0|1:95944647_C_CA:354,0,1595
chr2	95944651	rs116594293	C	A	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.713;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.772;MLEAC=1;MLEAF=0.5;MQ=55.9;MQRankSum=-6.876;QD=6.26;ReadPosRankSum=0.92;SOR=1.15;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116594293;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|19/89|c.1467G>T|p.Leu489Phe|2079/8072|1467/6435|489/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,13:52:99:0|1:95944647_C_CA:354,0,1595
chr2	95944662	rs77220524	T	A	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.083;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.794;MLEAC=1;MLEAF=0.5;MQ=56.11;MQRankSum=-7.207;QD=7.29;ReadPosRankSum=0.901;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77220524;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|19/89|c.1456A>T|p.Asn486Tyr|2068/8072|1456/6435|486/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:41,13:54:99:0|1:95944662_T_A:422,0,1682
chr2	95944665	rs74491979	C	T	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.655;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.794;MLEAC=1;MLEAF=0.5;MQ=56.11;MQRankSum=-7.207;QD=7.29;ReadPosRankSum=0.779;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74491979;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|19/89|c.1453G>A|p.Glu485Lys|2065/8072|1453/6435|485/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:41,13:54:99:0|1:95944662_T_A:422,0,1682
chr2	95944672	rs78473403	G	T	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.271;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=4.653;MLEAC=1;MLEAF=0.5;MQ=55.96;MQRankSum=-7.063;QD=7.63;ReadPosRankSum=-0.042;SOR=1.052;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78473403;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|19/89|c.1446C>A|p.Asp482Glu|2058/8072|1446/6435|482/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,13:52:99:0|1:95944662_T_A:425,0,1640
chr2	95944777	rs79583286	G	A	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.195;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.14;MQRankSum=-3.195;QD=6.37;ReadPosRankSum=-3.195;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79583286;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1424-83C>T||||||	GT:AD:DP:GQ:PL	0/1:9,4:13:99:111,0,345
chr2	95944792	rs371461424	G	C	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.433;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.47;MQRankSum=-3.481;QD=11.05;ReadPosRankSum=-0.579;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371461424;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1424-98C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,5:14:99:0|1:95944792_G_C:183,0,363
chr2	95944796	rs375876591	G	T	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.368;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.01;MQRankSum=-3.591;QD=9.92;ReadPosRankSum=0.49;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375876591;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1424-102C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,5:15:99:0|1:95944792_G_C:177,0,447
chr2	95944798	rs367956544	G	T	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.214;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.47;MQRankSum=-3.735;QD=8.84;ReadPosRankSum=0.963;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs367956544;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1424-104C>A||||||	GT:AD:DP:GQ:PL	0/1:11,3:14:99:152,0,444
chr2	95944804	rs11897663	G	C	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.809;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=1.913;MLEAC=1;MLEAF=0.5;MQ=52.65;MQRankSum=-3.854;QD=10.93;ReadPosRankSum=0.805;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11897663;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1424-110C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,6:17:99:0|1:95944792_G_C:214,0,444
chr2	95944819	rs374296722	T	TAC	190.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.312;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.93;MQRankSum=-3.588;QD=13.62;ReadPosRankSum=2.11;SOR=0.368;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=TAC|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1424-126_1424-125insGT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,6:14:99:0|1:95944819_T_TAC:228,0,318
chr2	95944821	rs372181262	T	A	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.93;MQRankSum=-3.588;QD=14.27;ReadPosRankSum=2.41;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372181262;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1424-127A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,6:14:99:0|1:95944819_T_TAC:228,0,318
chr2	95945011	rs377016561	T	A	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=6.043;MLEAC=1;MLEAF=0.5;MQ=55.58;MQRankSum=-4.258;QD=6.54;ReadPosRankSum=-1.372;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs377016561;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1423+103A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,4:20:99:0|1:95945011_T_A:159,0,669
chr2	95945020	rs376183764	T	G	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.32;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=9.379;MLEAC=1;MLEAF=0.5;MQ=55.09;MQRankSum=-4.481;QD=5.81;ReadPosRankSum=-1.569;SOR=3.407;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376183764;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1423+94A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,5:22:99:0|1:95945011_T_A:156,0,702
chr2	95945039	rs112708872	C	CA	524.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=15.999;MLEAC=1;MLEAF=0.5;MQ=53.52;MQRankSum=-5.015;QD=18.74;ReadPosRankSum=-2.566;SOR=4.407;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112708872;dbSNPBuildID=132;ANN=CA|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1423+74dupT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,10:28:99:0|1:95945039_C_CA:562,0,796
chr2	95945057	rs371613132	AAGAAAG	A	26.74	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.562;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.723;MLEAC=1;MLEAF=0.5;MQ=55.47;MQRankSum=-1.282;QD=0.46;ReadPosRankSum=-0.13;SOR=0.255;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs371613132;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1423+51_1423+56delCTTTCT||||||	GT:AD:DP:GQ:PL	0/1:49,9:58:64:64,0,1998
chr2	95945061	rs369841640	AAG	A	705.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.83;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=19.996;MLEAC=1;MLEAF=0.5;MQ=55.47;MQRankSum=-4.566;QD=11.96;ReadPosRankSum=-2.895;SOR=3.662;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369841640;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1423+51_1423+52delCT||||||	GT:AD:DP:GQ:PL	0/1:37,22:59:99:743,0,1519
chr2	95945088	rs11893977	T	C	2855.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.69;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=12.255;MLEAC=1;MLEAF=0.5;MQ=56.37;MQRankSum=-3.465;QD=24.83;ReadPosRankSum=-2.847;SOR=1.933;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11893977;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/88|c.1423+26A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,84:115:99:0|1:95945039_C_CA:2884,0,1039
chr2	95945151	rs62154593	T	C	6383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=196;ExcessHet=3.0103;FS=7.837;MLEAC=1;MLEAF=0.5;MQ=55.88;MQRankSum=-4.165;QD=33.96;ReadPosRankSum=-0.282;SOR=1.273;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154593;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/89|c.1386A>G|p.Thr462Thr|1998/8072|1386/6435|462/2144||	GT:AD:DP:GQ:PL	0/1:31,157:188:99:6412,0,793
chr2	95945173	rs62154594	T	G	6736.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=205;ExcessHet=3.0103;FS=4.881;MLEAC=1;MLEAF=0.5;MQ=56.2;MQRankSum=-3.984;QD=33.85;ReadPosRankSum=0.582;SOR=0.915;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154594;dbSNPBuildID=129;ANN=G|missense_variant&splice_region_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|18/89|c.1364A>C|p.Asn455Thr|1976/8072|1364/6435|455/2144||	GT:AD:DP:GQ:PL	0/1:30,169:199:99:6765,0,734
chr2	95945175	rs75080810	C	G	1399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=205;ExcessHet=3.0103;FS=1.169;MLEAC=1;MLEAF=0.5;MQ=56.2;MQRankSum=-4.041;QD=7.03;ReadPosRankSum=0.485;SOR=0.822;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75080810;dbSNPBuildID=131;ANN=G|splice_acceptor_variant&intron_variant|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|17/88|c.1363-1G>C||||||;LOF=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PL	0/1:131,68:199:99:1428,0,3739
chr2	95945204	rs62154595	T	C	4485.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.855;ClippingRankSum=0;DP=188;ExcessHet=3.0103;FS=4.374;MLEAC=1;MLEAF=0.5;MQ=55.62;MQRankSum=-3.486;QD=24.65;ReadPosRankSum=-0.669;SOR=0.349;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154595;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|17/88|c.1363-30A>G||||||	GT:AD:DP:GQ:PL	0/1:22,160:182:95:4514,0,95
chr2	95945270	rs62154596	G	A	2240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.897;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=2.333;MLEAC=1;MLEAF=0.5;MQ=49.53;MQRankSum=-1.242;QD=29.48;ReadPosRankSum=0.309;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154596;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|17/88|c.1363-96C>T||||||	GT:AD:DP:GQ:PL	0/1:7,69:76:44:2269,0,44
chr2	95950600	rs62154609	C	G	549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.74;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=5.071;MLEAC=1;MLEAF=0.5;MQ=49.66;MQRankSum=-4.833;QD=19.63;ReadPosRankSum=0.672;SOR=2.133;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154609;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+149G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,15:28:99:0|1:95950600_C_G:578,0,567
chr2	95950605	rs150793442	GT	G	164.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.44;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=2.634;MLEAC=1;MLEAF=0.5;MQ=49.66;MQRankSum=-2.296;QD=6.1;ReadPosRankSum=1.24;SOR=1.877;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs150793442;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+143delA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,7:27:99:0|1:95950605_GT_G:202,0,870
chr2	95950606	rs78161475	T	C	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.68;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.3;MQRankSum=-3.142;QD=6.77;ReadPosRankSum=-0.64;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78161475;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+143A>G||||||	GT:AD:DP:GQ:PL	0/1:20,7:27:99:211,0,853
chr2	95950607	rs62154610	T	C	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.06;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.634;MLEAC=1;MLEAF=0.5;MQ=50.3;MQRankSum=-2.296;QD=6.44;ReadPosRankSum=1.16;SOR=1.877;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154610;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+142A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,7:27:99:0|1:95950605_GT_G:202,0,870
chr2	95950630	rs62154611	C	T	505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.25;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.672;MLEAC=1;MLEAF=0.5;MQ=53.5;MQRankSum=-5.308;QD=14.45;ReadPosRankSum=0.72;SOR=1.059;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154611;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+119G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,15:35:99:0|1:95950600_C_G:534,0,802
chr2	95950676	rs531998442	A	G	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=6.984;MLEAC=1;MLEAF=0.5;MQ=54.65;MQRankSum=3.73;QD=4.03;ReadPosRankSum=1.2;SOR=1.826;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+73T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21004;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96616424;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:42,12:54:99:246,0,1559
chr2	95950694	rs74960926	C	A	1136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.739;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=8.994;MLEAC=1;MLEAF=0.5;MQ=53.8;MQRankSum=-5.935;QD=18.64;ReadPosRankSum=-0.6;SOR=0.789;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74960926;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+55G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19745;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96616442;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,31:61:99:0|1:95950694_C_A:1165,0,1221
chr2	95950700	rs76503749	G	T	1114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=8.994;MLEAC=1;MLEAF=0.5;MQ=53.67;MQRankSum=-5.15;QD=18.27;ReadPosRankSum=0.687;SOR=1.098;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76503749;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+49C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19632;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96616448;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:32,29:61:99:0|1:95950694_C_A:1143,0,1204
chr2	95950737	rs78218362	C	G	965.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.016;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=11.318;MLEAC=1;MLEAF=0.5;MQ=53.17;MQRankSum=-3.831;QD=16.1;ReadPosRankSum=3.13;SOR=1.429;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78218362;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/88|c.1295+12G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:33,27:60:99:0|1:95950737_C_G:994,0,1237
chr2	95950753	rs764442566	C	CAA	1005.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=9.705;MLEAC=1;MLEAF=0.5;MQ=52.21;MQRankSum=-2.974;QD=17.64;ReadPosRankSum=0.568;SOR=1.743;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=CAA|frameshift_variant|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/89|c.1289_1290dupTT|p.Asp431fs|1902/8072|1290/6435|430/2144||;LOF=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,27:57:99:0|1:95950737_C_G:1043,0,1178
chr2	95950757	rs373114066	AGC	A	1002.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=12.332;MLEAC=1;MLEAF=0.5;MQ=51.99;MQRankSum=-3.077;QD=17.59;ReadPosRankSum=0.569;SOR=1.938;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs373114066;dbSNPBuildID=138;ANN=A|frameshift_variant|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|16/89|c.1285_1286delGC|p.Ala429fs|1898/8072|1285/6435|429/2144||;LOF=(ANKRD36C|ANKRD36C|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,26:57:99:0|1:95950737_C_G:1040,0,1220
chr2	95950784	rs76743459	T	G	895.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.15;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.606;MLEAC=1;MLEAF=0.5;MQ=50.15;MQRankSum=-1.722;QD=17.23;ReadPosRankSum=-2.573;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112676430;dbSNPBuildID=131;ANN=G|splice_region_variant&intron_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-5A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,24:52:99:0|1:95950737_C_G:924,0,1017
chr2	95950823	rs74207415	C	A	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.562;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.987;MLEAC=1;MLEAF=0.5;MQ=45.82;MQRankSum=-4.352;QD=5.34;ReadPosRankSum=-2.07;SOR=1.347;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146478446;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-44G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,6:29:99:0|1:95950823_C_A:183,0,1558
chr2	95950828	rs75898116	T	C	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.9;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=46.37;MQRankSum=-4.295;QD=4.96;ReadPosRankSum=-1.408;SOR=1.259;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143490798;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-49A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,6:30:99:0|1:95950823_C_A:177,0,1965
chr2	95950832	rs75927533	A	G	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.36;MQRankSum=-4.126;QD=3.92;ReadPosRankSum=-0.946;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201649771;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-53T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,5:28:99:0|1:95950823_C_A:138,0,1929
chr2	95950849	rs114583836	A	G	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.85;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.29;MQRankSum=-3.266;QD=4.29;ReadPosRankSum=0.113;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs114583836;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-70T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,3:20:99:0|1:95950823_C_A:114,0,1680
chr2	95950851	rs72493415	G	A	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.654;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.23;MQRankSum=-3.578;QD=8.23;ReadPosRankSum=-1.141;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116630524;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-72C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,4:21:99:0|1:95950823_C_A:201,0,1632
chr2	95950859	rs72493414	G	T	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.38;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.08;MQRankSum=-3.937;QD=7.72;ReadPosRankSum=-1.522;SOR=0.344;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141967446;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-80C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,6:22:99:0|1:95950823_C_A:198,0,1672
chr2	95950874	rs112338915	C	T	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.655;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=46.99;MQRankSum=-3.757;QD=9.09;ReadPosRankSum=-1.284;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112338915;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-95G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,6:20:99:0|1:95950823_C_A:210,0,1504
chr2	95950906	rs75283408	C	A	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.236;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=49.07;MQRankSum=-2.071;QD=9.3;ReadPosRankSum=1.19;SOR=0.057;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75283408;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-127G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,5:16:99:0|1:95950906_C_A:177,0,976
chr2	95950919	rs77249402	A	C	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.045;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=7.83;MLEAC=1;MLEAF=0.5;MQ=50.15;MQRankSum=-1.39;QD=14.05;ReadPosRankSum=0.791;SOR=0.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77249402;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-140T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,6:14:99:0|1:95950906_C_A:225,0,929
chr2	95950942	rs111409549	T	C	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.931;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.55;MQRankSum=-1.477;QD=17.15;ReadPosRankSum=1.55;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111409549;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-163A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,6:12:99:0|1:95950906_C_A:234,0,701
chr2	95950945	rs112782601	C	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.95;MQRankSum=-1.498;QD=18.98;ReadPosRankSum=1.17;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112782601;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1265-166G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,6:11:99:0|1:95950906_C_A:237,0,585
chr2	95951199	rs74369410	G	A	544.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.703;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=5.142;MLEAC=1;MLEAF=0.5;MQ=51.13;MQRankSum=-4.554;QD=20.95;ReadPosRankSum=-1.018;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74369410;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+149C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,14:26:99:0|1:95951199_G_A:573,0,459
chr2	95951203	rs74904196	A	G	691.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.16;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=5.316;MLEAC=1;MLEAF=0.5;MQ=50.41;MQRankSum=-4.603;QD=25.62;ReadPosRankSum=-1.41;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74904196;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+145T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,15:27:99:0|1:95951199_G_A:720,0,450
chr2	95951209	rs76255864	A	G	733.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.01;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.854;MLEAC=1;MLEAF=0.5;MQ=49.57;MQRankSum=-4.764;QD=23.67;ReadPosRankSum=-1.93;SOR=1.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76255864;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+139T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,19:31:99:0|1:95951199_G_A:762,0,447
chr2	95951219	rs77784489	G	C	691.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.003;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.744;MLEAC=1;MLEAF=0.5;MQ=50.16;MQRankSum=-4.673;QD=23.85;ReadPosRankSum=-0.864;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77784489;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+129C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,17:29:99:0|1:95951199_G_A:720,0,450
chr2	95951228	rs76077075	A	G	853.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.01;MQRankSum=-4.721;QD=25.87;ReadPosRankSum=-0.535;SOR=0.928;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76077075;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+120T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,20:33:99:0|1:95951199_G_A:882,0,522
chr2	95951231	rs80105408	G	C	849.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.922;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.3;MQRankSum=-4.564;QD=24.99;ReadPosRankSum=-0.692;SOR=0.998;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80105408;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+117C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,21:34:99:0|1:95951199_G_A:878,0,522
chr2	95951249	rs74701498	T	G	1020.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.5;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.23;MQRankSum=-4.142;QD=23.74;ReadPosRankSum=-0.051;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74701498;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+99A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,28:43:99:0|1:95951199_G_A:1049,0,537
chr2	95951275	rs78346055	C	A	1635.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.01;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=4.156;MLEAC=1;MLEAF=0.5;MQ=53.67;MQRankSum=-3.683;QD=28.2;ReadPosRankSum=0.219;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78346055;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+73G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,40:58:99:0|1:95951275_C_A:1664,0,655
chr2	95951277	rs72492186	C	A	1733.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.716;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=5.887;MLEAC=1;MLEAF=0.5;MQ=53.89;MQRankSum=-3.714;QD=28.9;ReadPosRankSum=0.501;SOR=0.227;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72492186;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+71G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,41:60:99:0|1:95951275_C_A:1762,0,687
chr2	95951281	rs878872242	GA	G	52.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=8.8;MLEAC=1;MLEAF=0.5;MQ=54.19;MQRankSum=0.944;QD=0.85;ReadPosRankSum=0.779;SOR=2.108;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72041793;dbSNPBuildID=147;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+66delT||||||	GT:AD:DP:GQ:PL	0/1:51,11:62:90:90,0,1658
chr2	95951291	rs74263747	A	C	1462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.37;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=4.758;MLEAC=1;MLEAF=0.5;MQ=55.11;MQRankSum=-4.241;QD=25.22;ReadPosRankSum=2.69;SOR=0.294;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74263747;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+57T>G||||||	GT:AD:DP:GQ:PL	0/1:30,28:58:99:1491,0,915
chr2	95951299	rs796232252	A	C	120.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=6.596;MLEAC=1;MLEAF=0.5;MQ=55.35;MQRankSum=-0.293;QD=1.31;ReadPosRankSum=1.49;SOR=0.461;SNP;HET;VARTYPE=SNP;dbSNPBuildID=146;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+49T>G||||||	GT:AD:DP:GQ:PL	0/1:79,13:92:99:149,0,2763
chr2	95951321	rs72935831	A	G	2009.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=2.593;MLEAC=1;MLEAF=0.5;MQ=56.04;MQRankSum=-5.387;QD=19.32;ReadPosRankSum=3.85;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72935831;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+27T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:51,53:104:99:0|1:95951321_A_G:2038,0,2027
chr2	95951342	rs72935833	A	G	1870.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.32;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.63;MQRankSum=-5.385;QD=17.48;ReadPosRankSum=2.87;SOR=0.696;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72935833;dbSNPBuildID=131;ANN=G|splice_region_variant&intron_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/88|c.1264+6T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:57,50:107:99:0|1:95951321_A_G:1899,0,2265
chr2	95951358	rs76943414	A	C	1602.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.96;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=1.635;MLEAC=1;MLEAF=0.5;MQ=57.63;MQRankSum=-4.636;QD=15.87;ReadPosRankSum=0.567;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76943414;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/89|c.1254T>G|p.Ser418Ser|1866/8072|1254/6435|418/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:58,43:101:99:0|1:95951321_A_G:1631,0,2306
chr2	95951363	rs76474100	G	A	1551.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=0.758;MLEAC=1;MLEAF=0.5;MQ=57.71;MQRankSum=-4.535;QD=15.36;ReadPosRankSum=-0.634;SOR=0.585;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76474100;dbSNPBuildID=131;ANN=A|stop_gained|HIGH|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/89|c.1249C>T|p.Arg417*|1861/8072|1249/6435|417/2144||;LOF=(ANKRD36C|ANKRD36C|1|1.00);NMD=(ANKRD36C|ANKRD36C|1|1.00);p3_1000G_AA=.|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20487;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96617111;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:59,42:101:99:0|1:95951321_A_G:1580,0,2435
chr2	95951365	rs80297803	G	A	1548.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.386;ClippingRankSum=0;DP=104;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.75;MQRankSum=-4.606;QD=15.04;ReadPosRankSum=-0.99;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80297803;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/89|c.1247C>T|p.Pro416Leu|1859/8072|1247/6435|416/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:61,42:103:99:0|1:95951321_A_G:1577,0,2477
chr2	95951377	rs75585230	T	C	1506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.35;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.96;MQRankSum=-4.19;QD=15.22;ReadPosRankSum=-3.016;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75585230;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/89|c.1235A>G|p.Lys412Arg|1847/8072|1235/6435|412/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:61,38:99:99:0|1:95951321_A_G:1535,0,2480
chr2	95951384	rs75695780	T	C	1344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.56;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.88;MQRankSum=-4.338;QD=14.16;ReadPosRankSum=-3.901;SOR=0.749;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75695780;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/89|c.1228A>G|p.Lys410Glu|1840/8072|1228/6435|410/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:60,35:95:99:0|1:95951321_A_G:1373,0,2408
chr2	95951407	rs76752473	A	G	921.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.53;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=1.939;MLEAC=1;MLEAF=0.5;MQ=58.19;MQRankSum=-4.807;QD=10.6;ReadPosRankSum=-4.503;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76752473;dbSNPBuildID=131;ANN=G|missense_variant&splice_region_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|15/89|c.1205T>C|p.Ile402Thr|1817/8072|1205/6435|402/2144||	GT:AD:DP:GQ:PGT:PID:PL	0/1:61,26:87:99:0|1:95951321_A_G:950,0,2392
chr2	95951434	rs113501309	A	C	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.539;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=4.448;MLEAC=1;MLEAF=0.5;MQ=56.47;MQRankSum=-5.05;QD=3.12;ReadPosRankSum=0.471;SOR=1.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113501309;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/88|c.1204-26T>G||||||	GT:AD:DP:GQ:PL	0/1:65,14:79:99:275,0,2915
chr2	95951446	rs75924615	A	G	752.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.58;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=5.927;MLEAC=1;MLEAF=0.5;MQ=55.87;MQRankSum=-7.182;QD=11.24;ReadPosRankSum=1.02;SOR=1.557;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75924615;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/88|c.1204-38T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:44,23:67:99:0|1:95951446_A_G:781,0,2245
chr2	95951461	rs74343816	G	T	586.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.312;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=11.323;MLEAC=1;MLEAF=0.5;MQ=55.23;MQRankSum=-5.587;QD=12.48;ReadPosRankSum=1.09;SOR=3.273;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74343816;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/88|c.1204-53C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,17:47:99:0|1:95951446_A_G:615,0,1972
chr2	95951480	rs78924901	T	A	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.84;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.1;MQRankSum=-3.416;QD=3.73;ReadPosRankSum=0.378;SOR=0.624;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78924901;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/88|c.1204-72A>T||||||	GT:AD:DP:GQ:PL	0/1:30,8:38:99:170,0,1857
chr2	95951483	rs2443879	G	A	580.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.391;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=2.993;MLEAC=1;MLEAF=0.5;MQ=52.92;MQRankSum=-5.256;QD=18.15;ReadPosRankSum=0.29;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2443879;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/88|c.1204-75C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,13:32:99:0|1:95951446_A_G:609,0,1517
chr2	95951489	rs143988021	TAACAGG	T	310.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.111;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=10.958;MLEAC=1;MLEAF=0.5;MQ=50.87;MQRankSum=3.12;QD=9.14;ReadPosRankSum=-1.127;SOR=0.014;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143988021;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/88|c.1204-87_1204-82delCCTGTT||||||;p3_1000G_AC=538;p3_1000G_AF=0.107428;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=25440;p3_1000G_EAS_AF=0.1786;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96617237;p3_1000G_GRCH37_REF=TAACAGG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,10:34:99:1|0:95951446_A_G:348,0,1301
chr2	95953893	rs200910276	A	C	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.24;MQRankSum=-1.645;QD=9.35;ReadPosRankSum=-0.253;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200910276;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/88|c.1203+46T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:95953893_A_C:75,0,156
chr2	95953894	rs201891130	A	T	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.24;MQRankSum=-1.645;QD=9.35;ReadPosRankSum=-0.126;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201891130;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/88|c.1203+45T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,2:5:75:0|1:95953893_A_C:75,0,156
chr2	95953939	rs199947548	C	T	17.84	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.943;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.625;MLEAC=1;MLEAF=0.5;MQ=51.13;MQRankSum=-0.736;QD=0.74;ReadPosRankSum=-0.251;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199947548;dbSNPBuildID=137;ANN=T|splice_region_variant&synonymous_variant|LOW|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/89|c.1203G>A|p.Glu401Glu|1815/8072|1203/6435|401/2144||	GT:AD:DP:GQ:PL	0/1:21,3:24:46:46,0,773
chr2	95953940	rs74946480	T	G	343.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.471;MLEAC=1;MLEAF=0.5;MQ=51.13;MQRankSum=-4.336;QD=14.32;ReadPosRankSum=-0.483;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74946480;dbSNPBuildID=131;ANN=G|missense_variant&splice_region_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/89|c.1202A>C|p.Glu401Ala|1814/8072|1202/6435|401/2144||	GT:AD:DP:GQ:PL	0/1:11,13:24:99:372,0,243
chr2	95953986	rs62154618	C	T	510.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.43;MQRankSum=-4.534;QD=15.48;ReadPosRankSum=-0.516;SOR=0.955;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154618;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|14/89|c.1156G>A|p.Ala386Thr|1768/8072|1156/6435|386/2144||	GT:AD:DP:GQ:PL	0/1:13,20:33:99:539,0,240
chr2	95954026	rs77522461	G	A	749.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.4;MQRankSum=-4.57;QD=20.83;ReadPosRankSum=1.14;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77522461;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|13/88|c.1137-21C>T||||||	GT:AD:DP:GQ:PL	0/1:12,24:36:99:778,0,189
chr2	95954051	rs145806545	A	C	784.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.028;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.06;MQRankSum=-4.249;QD=23.08;ReadPosRankSum=0.454;SOR=0.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145806545;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|13/88|c.1137-46T>G||||||	GT:AD:DP:GQ:PL	0/1:10,24:34:99:813,0,171
chr2	95954083	rs76870447	T	C	483.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=7.915;MLEAC=1;MLEAF=0.5;MQ=51.64;MQRankSum=-4.073;QD=21.03;ReadPosRankSum=0.536;SOR=2.642;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76870447;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|13/88|c.1137-78A>G||||||	GT:AD:DP:GQ:PL	0/1:9,14:23:99:512,0,299
chr2	95954089	rs77007933	C	G	477.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.66;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.629;MLEAC=1;MLEAF=0.5;MQ=50.19;MQRankSum=-1.941;QD=25.15;ReadPosRankSum=-1.324;SOR=1.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77007933;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|13/88|c.1137-84G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,11:19:99:0|1:95954089_C_G:506,0,297
chr2	95954090	rs79612785	A	C	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.629;MLEAC=1;MLEAF=0.5;MQ=50.19;MQRankSum=-1.941;QD=22.94;ReadPosRankSum=-1.24;SOR=1.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79612785;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|13/88|c.1137-85T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,11:19:99:0|1:95954089_C_G:464,0,300
chr2	95954101	rs201387352	A	T	87.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.19;MQRankSum=-0.71;QD=5.16;ReadPosRankSum=0.283;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201387352;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|13/88|c.1137-96T>A||||||	GT:AD:DP:GQ:PL	0/1:13,4:17:99:116,0,496
chr2	95954105	rs201388512	T	C	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.76;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.7;MQRankSum=-1.135;QD=1.2;ReadPosRankSum=1.01;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201388512;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|13/88|c.1137-100A>G||||||	GT:AD:DP:GQ:PL	0/1:12,2:14:45:45,0,518
chr2	95954125	rs111807008	C	A	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.362;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.14;MQRankSum=-1.231;QD=2.62;ReadPosRankSum=0.23;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111807008;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|13/88|c.1137-120G>T||||||	GT:AD:DP:GQ:PL	0/1:9,2:11:57:57,0,369
chr2	95960544	rs4362598	C	T	93.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.12;QD=23.26;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4362598;dbSNPBuildID=111;ANN=T|missense_variant&splice_region_variant|MODERATE|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|10/89|c.932G>A|p.Gly311Asp|1544/8072|932/6435|311/2144||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:121,12,0
chr2	95980545	rs12613703	T	C	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.47;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12613703;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|5/88|c.731+103A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=608;p3_1000G_AF=0.121406;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=20003;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96646293;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:306,0,290
chr2	95987068	rs200039497;rs56216902	CAA	C	978.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=35.44;QD=32.67;SOR=1.426;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200039497;dbSNPBuildID=137,130;ANN=C|intron_variant|MODIFIER|ANKRD36C|ANKRD36C|transcript|NM_001310154.1|protein_coding|2/88|c.312+22_312+23delTT||||||;p3_1000G_AC=1681;p3_1000G_AF=0.335663;p3_1000G_AFR_AF=0.6982;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=13159;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.1769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96652816;p3_1000G_GRCH37_REF=CAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,23:23:69:1016,69,0
chr2	96013904	rs541987894	C	T	1512.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.216;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0.795;MLEAC=1;MLEAF=0.5;MQ=59.38;MQRankSum=3.36;QD=15.6;ReadPosRankSum=0.025;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene|1/3|n.182+3172C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18552;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96679652;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:35,62:97:99:1541,0,934
chr2	96013999	rs6709448	C	A	966.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.053;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.69;MQRankSum=-4.701;QD=14.87;ReadPosRankSum=2.47;SOR=0.575;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6709448;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene|1/3|n.182+3267C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=558;p3_1000G_AF=0.111422;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=17408;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96679747;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:38,27:65:99:0|1:96013999_C_A:995,0,2188
chr2	96014000	rs6724270	A	G	966.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=1.03;MLEAC=1;MLEAF=0.5;MQ=57.62;MQRankSum=-4.742;QD=15.35;ReadPosRankSum=3.12;SOR=0.468;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6724270;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene|1/3|n.182+3268A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=561;p3_1000G_AF=0.112021;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=17436;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96679748;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,26:63:99:0|1:96013999_C_A:995,0,2188
chr2	96019559	rs59878168	G	A	1296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.152;ClippingRankSum=0;DP=126;ExcessHet=3.0103;FS=1.476;MLEAC=1;MLEAF=0.5;MQ=53.84;MQRankSum=-3.137;QD=10.37;ReadPosRankSum=-0.856;SOR=0.52;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59878168;dbSNPBuildID=129;ANN=A|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321525.1|protein_coding||c.*2600C>T|||||2387|,A|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321526.1|protein_coding||c.*2600C>T|||||2387|,A|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321527.1|protein_coding||c.*2600C>T|||||2387|,A|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321528.1|protein_coding||c.*3111C>T|||||2387|,A|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321529.1|protein_coding||c.*2600C>T|||||2387|,A|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321530.1|protein_coding||c.*2600C>T|||||2387|,A|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_207328.3|protein_coding||c.*2600C>T|||||2387|,A|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321531.1|protein_coding||c.*3111C>T|||||2387|,A|intron_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene|1/3|n.183-1566G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=451;p3_1000G_AF=0.0900559;p3_1000G_AFR_AF=0.0734;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=25097;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.0328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96685307;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1325,0,1693
chr2	96021678	rs58846461	CT	C	1426.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.79;QD=27.99;SOR=2.517;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58846461;dbSNPBuildID=129;ANN=C|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321525.1|protein_coding||c.*480delA|||||267|,C|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321526.1|protein_coding||c.*480delA|||||267|,C|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321527.1|protein_coding||c.*480delA|||||267|,C|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321528.1|protein_coding||c.*991delA|||||267|,C|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321529.1|protein_coding||c.*480delA|||||267|,C|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321530.1|protein_coding||c.*480delA|||||267|,C|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_207328.3|protein_coding||c.*480delA|||||267|,C|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321531.1|protein_coding||c.*991delA|||||267|,C|intron_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene|3/3|n.389+214delT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,33:33:99:1|1:96021678_CT_C:1464,99,0
chr2	96021680	rs59812668	GC	G	1426.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.12;QD=27.62;SOR=2.517;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs59812668;dbSNPBuildID=129;ANN=G|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321525.1|protein_coding||c.*478delG|||||265|,G|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321526.1|protein_coding||c.*478delG|||||265|,G|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321527.1|protein_coding||c.*478delG|||||265|,G|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321528.1|protein_coding||c.*989delG|||||265|,G|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321529.1|protein_coding||c.*478delG|||||265|,G|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321530.1|protein_coding||c.*478delG|||||265|,G|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_207328.3|protein_coding||c.*478delG|||||265|,G|downstream_gene_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321531.1|protein_coding||c.*989delG|||||265|,G|intron_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene|3/3|n.389+216delC||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,33:33:99:1|1:96021678_CT_C:1464,99,0
chr2	96023242	rs2278564	C	T	480.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.821;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=3.896;MLEAC=1;MLEAF=0.5;MQ=54.95;MQRankSum=-0.123;QD=9.43;ReadPosRankSum=-0.37;SOR=0.506;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278564;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene||n.*106C>T|||||106|,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321525.1|protein_coding|18/21|c.2047-16G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321526.1|protein_coding|18/21|c.2047-16G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321527.1|protein_coding|18/21|c.2047-16G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321528.1|protein_coding|18/21|c.2037-16G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321529.1|protein_coding|17/20|c.1834-16G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321530.1|protein_coding|17/20|c.1816-16G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_207328.3|protein_coding|18/21|c.2029-16G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321531.1|protein_coding|18/20|c.1897-219G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=518;p3_1000G_AF=0.103435;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=21455;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.0596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96688990;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,21:51:99:509,0,875
chr2	96024069	rs77642907	C	T	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.503;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.83;MQRankSum=1.29;QD=24.8;ReadPosRankSum=0.843;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77642907;dbSNPBuildID=131;ANN=T|downstream_gene_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene||n.*933C>T|||||933|,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321525.1|protein_coding|16/21|c.1837-69G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321526.1|protein_coding|16/21|c.1837-69G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321527.1|protein_coding|16/21|c.1837-69G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321528.1|protein_coding|16/21|c.1837-69G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321529.1|protein_coding|15/20|c.1624-69G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321530.1|protein_coding|15/20|c.1606-69G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_207328.3|protein_coding|16/21|c.1819-69G>A||||||,T|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321531.1|protein_coding|17/20|c.1819-69G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=478;p3_1000G_AF=0.0954473;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=21248;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96689817;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,12:16:99:425,0,101
chr2	96024730	rs142519133	A	AC	791.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.568;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-0.858;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs142519133;dbSNPBuildID=134;ANN=AC|downstream_gene_variant|MODIFIER|FAHD2CP|FAHD2CP|transcript|NR_003698.1|pseudogene||n.*1594_*1595insC|||||1595|,AC|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321525.1|protein_coding|14/21|c.1428+42dupG||||||,AC|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321526.1|protein_coding|14/21|c.1428+42dupG||||||,AC|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321527.1|protein_coding|14/21|c.1428+42dupG||||||,AC|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321528.1|protein_coding|14/21|c.1428+42dupG||||||,AC|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321529.1|protein_coding|13/20|c.1215+42dupG||||||,AC|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321530.1|protein_coding|13/20|c.1215+42dupG||||||,AC|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_207328.3|protein_coding|14/21|c.1428+42dupG||||||,AC|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321531.1|protein_coding|15/20|c.1428+42dupG||||||;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=475;p3_1000G_AF=0.0948482;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=15550;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.0338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96690478;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:26,34:60:99:829,0,595
chr2	96032075	rs76666665	G	A	137.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.465;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=2.879;MLEAC=1;MLEAF=0.5;MQ=43.1;MQRankSum=-2.366;QD=1.91;ReadPosRankSum=-0.047;SOR=1.349;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76666665;dbSNPBuildID=131;ANN=A|synonymous_variant|LOW|GPAT2|GPAT2|transcript|NM_001321525.1|protein_coding|3/22|c.135C>T|p.Pro45Pro|534/3018|135/2406|45/801||,A|synonymous_variant|LOW|GPAT2|GPAT2|transcript|NM_001321526.1|protein_coding|3/22|c.135C>T|p.Pro45Pro|624/3108|135/2406|45/801||,A|synonymous_variant|LOW|GPAT2|GPAT2|transcript|NM_001321527.1|protein_coding|3/22|c.135C>T|p.Pro45Pro|588/3072|135/2406|45/801||,A|synonymous_variant|LOW|GPAT2|GPAT2|transcript|NM_001321528.1|protein_coding|3/22|c.135C>T|p.Pro45Pro|588/3062|135/2277|45/758||,A|synonymous_variant|LOW|GPAT2|GPAT2|transcript|NM_001321529.1|protein_coding|3/21|c.135C>T|p.Pro45Pro|624/2895|135/2193|45/730||,A|synonymous_variant|LOW|GPAT2|GPAT2|transcript|NM_001321530.1|protein_coding|3/21|c.135C>T|p.Pro45Pro|534/2787|135/2175|45/724||,A|synonymous_variant|LOW|GPAT2|GPAT2|transcript|NM_207328.3|protein_coding|3/22|c.135C>T|p.Pro45Pro|624/3090|135/2388|45/795||,A|synonymous_variant|LOW|GPAT2|GPAT2|transcript|NM_001321531.1|protein_coding|4/21|c.135C>T|p.Pro45Pro|595/2808|135/2016|45/671||;p3_1000G_AA=G|||;p3_1000G_AC=386;p3_1000G_AF=0.0770767;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=23864;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96697823;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=235,3375;ESP6500_AA_GTC=28,179,1598;ESP6500_CDS_SIZES=NM_207328.2:2388;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=62;ESP6500_EA_AC=106,7818;ESP6500_EA_GTC=1,104,3857;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207328.2:coding-synonymous;ESP6500_GL=GPAT2;ESP6500_GRCh38_POSITION=2:96032075;ESP6500_GTC=29,283,5455;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207328.2:c.135C>T;ESP6500_HGVS_PROTEIN_VAR=NM_207328.2:p.(P45);ESP6500_MAF=1.3377,6.5097,2.9565;ESP6500_TAC=341,11193	GT:AD:DP:GQ:PL	0/1:60,12:72:99:166,0,1716
chr2	96032437	rs62155523	G	A	1283.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.24;QD=29.86;SOR=1.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs375306245;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321525.1|protein_coding|1/21|c.-6-72C>T||||||,A|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321526.1|protein_coding|1/21|c.-60-18C>T||||||,A|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321527.1|protein_coding|1/21|c.-60-18C>T||||||,A|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321528.1|protein_coding|1/21|c.-60-18C>T||||||,A|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321529.1|protein_coding|1/20|c.-60-18C>T||||||,A|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321530.1|protein_coding|1/20|c.-6-72C>T||||||,A|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_207328.3|protein_coding|1/21|c.-60-18C>T||||||,A|intron_variant|MODIFIER|GPAT2|GPAT2|transcript|NM_001321531.1|protein_coding|2/20|c.-6-72C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2256;p3_1000G_AF=0.450479;p3_1000G_AFR_AF=0.6135;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=16677;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96698185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1312,129,0
chr2	96114968	rs2229169	T	G	4313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=139;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=0.707;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229169;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|ADRA2B|ADRA2B|transcript|NM_000682.6|protein_coding|1/1|c.1182A>C|p.Gly394Gly|1278/3371|1182/1353|394/450||;p3_1000G_AA=G|||;p3_1000G_AC=3532;p3_1000G_AF=0.705272;p3_1000G_AFR_AF=0.7685;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=17100;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.6819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96780716;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3265,1099;ESP6500_AA_GTC=1211,843,128;ESP6500_CDS_SIZES=NM_000682.5:1344;ESP6500_CG=-4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=54;ESP6500_EA_AC=5858,2724;ESP6500_EA_GTC=1987,1884,420;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000682.5:coding-synonymous;ESP6500_GL=ADRA2B;ESP6500_GRCh38_POSITION=2:96114968;ESP6500_GTC=3198,2727,548;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000682.5:c.1173A>C;ESP6500_HGVS_PROTEIN_VAR=NM_000682.5:p.(G391);ESP6500_MAF=31.7409,25.1833,29.5304;ESP6500_TAC=9123,3823	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4342,417,0
chr2	96116114	rs9333567	T	C	614.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.422;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.359;SOR=0.588;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9333567;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|ADRA2B|ADRA2B|transcript|NM_000682.6|protein_coding|1/1|c.36A>G|p.Thr12Thr|132/3371|36/1353|12/450||;p3_1000G_AA=C|||;p3_1000G_AC=483;p3_1000G_AF=0.0964457;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=16315;p3_1000G_EAS_AF=0.2014;p3_1000G_EUR_AF=0.0398;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96781853;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=249,3935;ESP6500_AA_GTC=4,241,1847;ESP6500_CDS_SIZES=NM_000682.5:1344;ESP6500_CG=-8.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=20;ESP6500_EA_AC=357,8061;ESP6500_EA_GTC=8,341,3860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000682.5:coding-synonymous;ESP6500_GL=ADRA2B;ESP6500_GRCh38_POSITION=2:96116114;ESP6500_GTC=12,582,5707;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000682.5:c.36A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000682.5:p.(T12);ESP6500_MAF=4.2409,5.9512,4.8088;ESP6500_TAC=606,11996	GT:AD:DP:GQ:PL	0/1:29,27:56:99:643,0,692
chr2	96116247	rs3111873	G	C	401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=5.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3111873;dbSNPBuildID=103;ANN=C|upstream_gene_variant|MODIFIER|ADRA2B|ADRA2B|transcript|NM_000682.6|protein_coding||c.-98C>G|||||2|,C|intergenic_region|MODIFIER|ADRA2B-ASTL|ADRA2B-ASTL|intergenic_region|ADRA2B-ASTL|||n.96116247G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3687;p3_1000G_AF=0.736222;p3_1000G_AFR_AF=0.8843;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=12756;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96781986;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:430,36,0
chr2	96129869	rs1657502	T	G	599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.414;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.055;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=-0.038;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1657502;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|ASTL|ASTL|transcript|NM_001002036.3|protein_coding|8/9|c.829A>C|p.Lys277Gln|829/1296|829/1296|277/431||;p3_1000G_AA=T|||;p3_1000G_AC=1924;p3_1000G_AF=0.384185;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=17072;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.3559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96795608;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1297,3109;ESP6500_AA_AGE=427.8+/-341.7;ESP6500_AA_GTC=187,923,1093;ESP6500_CDS_SIZES=NM_001002036.3:1296;ESP6500_CG=-2.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=47;ESP6500_EA_AC=3115,5485;ESP6500_EA_AGE=466.1+/-366.7;ESP6500_EA_GTC=555,2005,1740;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001002036.3:missense;ESP6500_GL=ASTL;ESP6500_GRCh38_POSITION=2:96129869;ESP6500_GS=53;ESP6500_GTC=742,2928,2833;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001002036.3:c.829A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001002036.3:p.(K277Q);ESP6500_MAF=36.2209,29.4371,33.9228;ESP6500_PH=benign:0.026;ESP6500_TAC=4412,8594	GT:AD:DP:GQ:PL	0/1:31,25:56:99:628,0,831
chr2	96129975	rs749459	G	A	413.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.303;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=5.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.318;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs749459;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|ASTL|ASTL|transcript|NM_001002036.3|protein_coding|8/9|c.723C>T|p.Leu241Leu|723/1296|723/1296|241/431||;p3_1000G_AA=G|||;p3_1000G_AC=1897;p3_1000G_AF=0.378794;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=16671;p3_1000G_EAS_AF=0.5952;p3_1000G_EUR_AF=0.3569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96795714;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1301,3105;ESP6500_AA_AGE=440.0+/-345.9;ESP6500_AA_GTC=184,933,1086;ESP6500_CDS_SIZES=NM_001002036.3:1296;ESP6500_CG=-2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=65;ESP6500_EA_AC=3125,5475;ESP6500_EA_AGE=476.1+/-369.3;ESP6500_EA_GTC=557,2011,1732;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001002036.3:coding-synonymous;ESP6500_GL=ASTL;ESP6500_GRCh38_POSITION=2:96129975;ESP6500_GTC=741,2944,2818;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001002036.3:c.723C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001002036.3:p.(L241);ESP6500_MAF=36.3372,29.5279,34.0304;ESP6500_TAC=4426,8580	GT:AD:DP:GQ:PL	0/1:18,16:34:99:442,0,492
chr2	96130118	rs749458	T	C	1135.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs749458;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|ASTL|ASTL|transcript|NM_001002036.3|protein_coding|7/9|c.665A>G|p.Gln222Arg|665/1296|665/1296|222/431||;p3_1000G_AA=C|||;p3_1000G_AC=4643;p3_1000G_AF=0.927117;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=22115;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.7684;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96795857;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9652;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4222,184;ESP6500_AA_AGE=116.7+/-154.6;ESP6500_AA_GTC=2020,182,1;ESP6500_CDS_SIZES=NM_001002036.3:1296;ESP6500_CG=-1.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=126;ESP6500_EA_AC=6840,1760;ESP6500_EA_AGE=320.5+/-314.7;ESP6500_EA_GTC=2723,1394,183;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001002036.3:missense;ESP6500_GL=ASTL;ESP6500_GRCh38_POSITION=2:96130118;ESP6500_GS=43;ESP6500_GTC=4743,1576,184;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001002036.3:c.665A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001002036.3:p.(Q222R);ESP6500_MAF=20.4651,4.1761,14.9469;ESP6500_PH=benign:0.0;ESP6500_TAC=11062,1944	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1164,114,0
chr2	96130205	rs749457	A	G	635.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs749457;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ASTL|ASTL|transcript|NM_001002036.3|protein_coding|6/8|c.638-60T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2002;p3_1000G_AF=0.39976;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.4726;p3_1000G_AN=5008;p3_1000G_DP=20129;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96795944;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=477,907;ESP6500_AA_GTC=82,313,297;ESP6500_CDS_SIZES=NM_001002036.3:1296;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=31;ESP6500_EA_AC=1162,2020;ESP6500_EA_GTC=211,740,640;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001002036.3:intron;ESP6500_GL=ASTL;ESP6500_GRCh38_POSITION=2:96130205;ESP6500_GTC=293,1053,937;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001002036.3:c.638-60T>C;ESP6500_MAF=36.5179,34.4653,35.8958;ESP6500_TAC=1639,2927	GT:AD:DP:GQ:PL	1/1:0,20:20:60:664,60,0
chr2	96132771	rs1168966	G	A	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.347;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=-1.791;SOR=0.072;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1168966;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|ASTL|ASTL|transcript|NM_001002036.3|protein_coding|5/8|c.456-50C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1795;p3_1000G_AF=0.358427;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=18922;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.3579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96798510;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=976,3430;ESP6500_AA_GTC=107,762,1334;ESP6500_CDS_SIZES=NM_001002036.3:1296;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=23;ESP6500_EA_AC=3111,5489;ESP6500_EA_GTC=555,2001,1744;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001002036.3:intron;ESP6500_GL=ASTL;ESP6500_GRCh38_POSITION=2:96132771;ESP6500_GTC=662,2763,3078;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001002036.3:c.456-50C>T;ESP6500_MAF=36.1744,22.1516,31.424;ESP6500_TAC=4087,8919	GT:AD:DP:GQ:PL	0/1:10,6:16:99:185,0,359
chr2	96133855	rs12614113	G	A	365.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.899;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=9.379;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-0.883;SOR=0.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12614113;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ASTL|ASTL|transcript|NM_001002036.3|protein_coding|4/8|c.337+110C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=36;p3_1000G_AF=0.0071885;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=23354;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96799594;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,14:22:99:394,0,283
chr2	96145100	rs531202204	C	G	469.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.906;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.73;ReadPosRankSum=1.03;SOR=0.191;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|synonymous_variant|LOW|DUSP2|DUSP2|transcript|NM_004418.3|protein_coding|1/4|c.255G>C|p.Leu85Leu|341/1685|255/945|85/314||;p3_1000G_AA=C|||;p3_1000G_AC=37;p3_1000G_AF=0.00738818;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=8040;p3_1000G_EAS_AF=0.0347;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96810839;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,17:19:21:498,0,21
chr2	96193176	rs997548	A	G	520.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=2.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.085;SOR=1.063;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs997548;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|STARD7|STARD7|transcript|NM_020151.3|protein_coding|4/7|c.661-16T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=699;p3_1000G_AF=0.139577;p3_1000G_AFR_AF=0.0469;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=19751;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96858914;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=305,4101;ESP6500_AA_AGE=798.8+/-415.5;ESP6500_AA_GTC=11,283,1909;ESP6500_CDS_SIZES=NM_020151.3:1113;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=111;ESP6500_EA_AC=1496,7104;ESP6500_EA_AGE=748.1+/-407.3;ESP6500_EA_GTC=137,1222,2941;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020151.3:intron;ESP6500_GL=STARD7;ESP6500_GRCh38_POSITION=2:96193176;ESP6500_GTC=148,1505,4850;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020151.3:c.661-16T>C;ESP6500_MAF=17.3953,6.9224,13.8475;ESP6500_TAC=1801,11205	GT:AD:DP:GQ:PL	0/1:17,20:37:99:549,0,443
chr2	96195421	rs2276650	C	G	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.663;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.456;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=-0.927;SOR=1.157;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276650;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|STARD7|STARD7|transcript|NM_020151.3|protein_coding|2/8|c.419G>C|p.Arg140Pro|820/3383|419/1113|140/370||;p3_1000G_AA=N|||;p3_1000G_AC=660;p3_1000G_AF=0.131789;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=19125;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96861159;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=294,4112;ESP6500_AA_AGE=797.8+/-415.4;ESP6500_AA_GTC=10,274,1919;ESP6500_CDS_SIZES=NM_020151.3:1113;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=128;ESP6500_EA_AC=1418,7182;ESP6500_EA_AGE=746.9+/-407.3;ESP6500_EA_GTC=122,1174,3004;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020151.3:missense;ESP6500_GL=STARD7;ESP6500_GRCh38_POSITION=2:96195421;ESP6500_GS=103;ESP6500_GTC=132,1448,4923;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020151.3:c.419G>C;ESP6500_HGVS_PROTEIN_VAR=NM_020151.3:p.(R140P);ESP6500_MAF=16.4884,6.6727,13.1632;ESP6500_PH=benign:0.0;ESP6500_TAC=1712,11294	GT:AD:DP:GQ:PL	0/1:23,11:34:99:250,0,598
chr2	96208578	rs144879606	G	C	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=0.849;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144879606;dbSNPBuildID=134;ANN=C|5_prime_UTR_variant|MODIFIER|STARD7|STARD7|transcript|NM_020151.3|protein_coding|1/8|c.-144C>G|||||144|,C|non_coding_transcript_exon_variant|MODIFIER|STARD7-AS1|STARD7-AS1|transcript|NR_046322.1|pseudogene|1/4|n.163G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=48;p3_1000G_AF=0.00958466;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=11895;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96874316;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:136,0,232
chr2	96253751	rs147532087;337499	G	A	59.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.608;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.566;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147532087;dbSNPBuildID=134;ANN=A|3_prime_UTR_variant|MODIFIER|TMEM127|TMEM127|transcript|NM_001193304.2|protein_coding|4/4|c.*57C>T|||||57|,A|3_prime_UTR_variant|MODIFIER|TMEM127|TMEM127|transcript|NM_017849.3|protein_coding|4/4|c.*57C>T|||||57|;p3_1000G_AA=G|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17994;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96919489;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.0094;CLINVAR_ALLELEID=291135;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300;CLINVAR_CLNDN=Pheochromocytoma;CLINVAR_CLNHGVS=NC_000002.12:g.96253751G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:675424;CLINVAR_GENEINFO=TMEM127:55654;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=147532087	GT:AD:DP:GQ:PL	0/1:4,3:7:88:88,0,102
chr2	96271414	rs74604002	C	T	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.4;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=0.842;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74604002;dbSNPBuildID=132;ANN=T|3_prime_UTR_variant|MODIFIER|CIAO1|CIAO1|transcript|NM_004804.2|protein_coding|7/7|c.*63C>T|||||63|,T|downstream_gene_variant|MODIFIER|SNRNP200|SNRNP200|transcript|NM_014014.4|protein_coding||c.*3598G>A|||||2922|;p3_1000G_AA=C|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19908;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96937152;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:279,0,102
chr2	96277735	rs3214063	T	C	793.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.226;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.506;SOR=0.83;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3214063;dbSNPBuildID=106;ANN=C|downstream_gene_variant|MODIFIER|CIAO1|CIAO1|transcript|NM_004804.2|protein_coding||c.*6384T>C|||||3573|,C|intron_variant|MODIFIER|SNRNP200|SNRNP200|transcript|NM_014014.4|protein_coding|40/44|c.5755-20A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1950;p3_1000G_AF=0.389377;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=21486;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.341;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96943473;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1305,3101;ESP6500_AA_AGE=698.8+/-406.4;ESP6500_AA_GTC=191,923,1089;ESP6500_CDS_SIZES=NM_014014.4:6411;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=88;ESP6500_EA_AC=3096,5504;ESP6500_EA_AGE=659.6+/-401.7;ESP6500_EA_GTC=570,1956,1774;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014014.4:intron;ESP6500_GL=SNRNP200;ESP6500_GRCh38_POSITION=2:96277735;ESP6500_GTC=761,2879,2863;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014014.4:c.5755-20A>G;ESP6500_MAF=36.0,29.6187,33.8382;ESP6500_TAC=4401,8605	GT:AD:DP:GQ:PL	0/1:30,27:57:99:822,0,763
chr2	96288945	rs79570603	C	G	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.967;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79570603;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|SNRNP200|SNRNP200|transcript|NM_014014.4|protein_coding|23/44|c.3174+92G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=22912;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96954683;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:140,0,184
chr2	96289742	rs3214058	T	C	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.27;ReadPosRankSum=-1.157;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3214058;dbSNPBuildID=106;ANN=C|intron_variant|MODIFIER|SNRNP200|SNRNP200|transcript|NM_014014.4|protein_coding|21/44|c.2940+57A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1928;p3_1000G_AF=0.384984;p3_1000G_AFR_AF=0.2844;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=20654;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96955480;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,14:21:99:454,0,174
chr2	96290577	rs772176	T	G	1088.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.59;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs371232431,rs772176;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SNRNP200|SNRNP200|transcript|NM_014014.4|protein_coding|19/44|c.2554-63A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4994;p3_1000G_AF=0.997204;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=23142;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96956315;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1117,84,0
chr2	96297121	rs17479466	A	G	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-1.718;SOR=0.896;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17479466;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|SNRNP200|SNRNP200|transcript|NM_014014.4|protein_coding|11/44|c.1378-51T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1953;p3_1000G_AF=0.389976;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=21599;p3_1000G_EAS_AF=0.2817;p3_1000G_EUR_AF=0.34;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96962859;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1308,3098;ESP6500_AA_AGE=652.8+/-399.5;ESP6500_AA_GTC=194,920,1089;ESP6500_CDS_SIZES=NM_014014.4:6411;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=32;ESP6500_EA_AC=3049,5551;ESP6500_EA_AGE=637.4+/-399.2;ESP6500_EA_GTC=554,1941,1805;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014014.4:intron;ESP6500_GL=SNRNP200;ESP6500_GRCh38_POSITION=2:96297121;ESP6500_GTC=748,2861,2894;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014014.4:c.1378-51T>C;ESP6500_MAF=35.4535,29.6868,33.4999;ESP6500_TAC=4357,8649	GT:AD:DP:GQ:PL	0/1:21,14:35:99:383,0,609
chr2	96299335	rs2276647;337562	C	T	800.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.181;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=5.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.601;SOR=1.306;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276647;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|SNRNP200|SNRNP200|transcript|NM_014014.4|protein_coding|6/45|c.723G>A|p.Ser241Ser|855/7219|723/6411|241/2136||;p3_1000G_AA=C|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=20993;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96965073;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00286;CLINVAR_AF_TGP=0.0094;CLINVAR_ALLELEID=291235;CLINVAR_CLNDISDB=MedGen:CN239354;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Dominant;CLINVAR_CLNHGVS=NC_000002.12:g.96299335C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:675426;CLINVAR_GENEINFO=SNRNP200:23020;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2276647	GT:AD:DP:GQ:PL	0/1:49,35:84:99:829,0,1244
chr2	96300923	rs3731930	G	C	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.077;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=-0.633;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731930;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SNRNP200|SNRNP200|transcript|NM_014014.4|protein_coding|5/44|c.630+75C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1911;p3_1000G_AF=0.381589;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=17313;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.3419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96966661;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,12:43:99:273,0,832
chr2	96325754	rs772174	A	G	751.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.72;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs772174;dbSNPBuildID=86;ANN=G|5_prime_UTR_premature_start_codon_gain_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001008949.2|protein_coding|2/3|c.-86A>G||||||,G|5_prime_UTR_variant|MODIFIER|ITPRIPL1|ITPRIPL1|transcript|NM_001008949.2|protein_coding|2/3|c.-86A>G|||||86|,G|upstream_gene_variant|MODIFIER|ITPRIPL1|ITPRIPL1|transcript|NM_178495.5|protein_coding||c.-854A>G|||||443|,G|upstream_gene_variant|MODIFIER|ITPRIPL1|ITPRIPL1|transcript|NM_001324490.1|protein_coding||c.-902A>G|||||443|,G|upstream_gene_variant|MODIFIER|ITPRIPL1|ITPRIPL1|transcript|NM_001163524.1|protein_coding||c.-902A>G|||||453|,G|intron_variant|MODIFIER|ITPRIPL1|ITPRIPL1|transcript|NM_001163523.1|protein_coding|1/1|c.-15+189A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4049;p3_1000G_AF=0.808506;p3_1000G_AFR_AF=0.68;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=17564;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96991492;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=918,466;ESP6500_AA_GTC=304,310,78;ESP6500_CDS_SIZES=NM_001163523.1:1644,NM_001008949.2:1668;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=60;ESP6500_EA_AC=2197,985;ESP6500_EA_GTC=764,669,158;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001163523.1:intron,NM_001008949.2:utr-5;ESP6500_GL=ITPRIPL1;ESP6500_GRCh38_POSITION=2:96325754;ESP6500_GTC=1068,979,236;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001163523.1:c.-902A>G,NM_001008949.2:c.-86A>G;ESP6500_MAF=30.9554,33.6705,31.7784;ESP6500_TAC=3115,1451	GT:AD:DP:GQ:PL	1/1:0,21:21:63:780,63,0
chr2	96327510	rs75541112	G	A	867.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.908;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0.937;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.575;SOR=0.902;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75541112;dbSNPBuildID=132;ANN=A|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_178495.5|protein_coding|1/1|c.903G>A|p.Ser301Ser|1314/2157|903/1692|301/563||,A|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001008949.2|protein_coding|3/3|c.879G>A|p.Ser293Ser|1214/2057|879/1668|293/555||,A|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001163523.1|protein_coding|2/2|c.855G>A|p.Ser285Ser|1104/1947|855/1644|285/547||,A|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001324490.1|protein_coding|2/2|c.855G>A|p.Ser285Ser|896/1739|855/1644|285/547||,A|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001163524.1|protein_coding|2/2|c.855G>A|p.Ser285Ser|971/1814|855/1644|285/547||;p3_1000G_AA=G|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=20207;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96993248;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_178495.5:1692,NM_001163524.1:1644,NM_001163523.1:1644,NM_001008949.2:1668;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=56;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178495.5:coding-synonymous,NM_001163524.1:coding-synonymous,NM_001163523.1:coding-synonymous,NM_001008949.2:coding-synonymous;ESP6500_GL=ITPRIPL1;ESP6500_GRCh38_POSITION=2:96327510;ESP6500_GTC=0,1,6502;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178495.5:c.903G>A,NM_001163524.1:c.855G>A,NM_001163523.1:c.855G>A,NM_001008949.2:c.879G>A;ESP6500_HGVS_PROTEIN_VAR=NM_178495.5:p.(S301),NM_001163524.1:p.(S285),NM_001163523.1:p.(S285),NM_001008949.2:p.(S293);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:32,36:68:99:896,0,877
chr2	96327739	rs75030364	G	T	1133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.059;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.37;SOR=0.7;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75030364;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ITPRIPL1|ITPRIPL1|transcript|NM_178495.5|protein_coding|1/1|c.1132G>T|p.Val378Leu|1543/2157|1132/1692|378/563||,T|missense_variant|MODERATE|ITPRIPL1|ITPRIPL1|transcript|NM_001008949.2|protein_coding|3/3|c.1108G>T|p.Val370Leu|1443/2057|1108/1668|370/555||,T|missense_variant|MODERATE|ITPRIPL1|ITPRIPL1|transcript|NM_001163523.1|protein_coding|2/2|c.1084G>T|p.Val362Leu|1333/1947|1084/1644|362/547||,T|missense_variant|MODERATE|ITPRIPL1|ITPRIPL1|transcript|NM_001324490.1|protein_coding|2/2|c.1084G>T|p.Val362Leu|1125/1739|1084/1644|362/547||,T|missense_variant|MODERATE|ITPRIPL1|ITPRIPL1|transcript|NM_001163524.1|protein_coding|2/2|c.1084G>T|p.Val362Leu|1200/1814|1084/1644|362/547||;p3_1000G_AA=G|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19984;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96993477;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4405;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_178495.5:1692,NM_001163524.1:1644,NM_001163523.1:1644,NM_001008949.2:1668;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=66;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_178495.5:missense,NM_001163524.1:missense,NM_001163523.1:missense,NM_001008949.2:missense;ESP6500_GL=ITPRIPL1;ESP6500_GRCh38_POSITION=2:96327739;ESP6500_GS=32,32,32,32;ESP6500_GTC=0,1,6502;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_178495.5:c.1132G>T,NM_001163524.1:c.1084G>T,NM_001163523.1:c.1084G>T,NM_001008949.2:c.1108G>T;ESP6500_HGVS_PROTEIN_VAR=NM_178495.5:p.(V378L),NM_001163524.1:p.(V362L),NM_001163523.1:p.(V362L),NM_001008949.2:p.(V370L);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1162,0,1403
chr2	96328146	rs1048675	A	G	834.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.951;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=3.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.08;SOR=1.054;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1048675;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_178495.5|protein_coding|1/1|c.1539A>G|p.Pro513Pro|1950/2157|1539/1692|513/563||,G|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001008949.2|protein_coding|3/3|c.1515A>G|p.Pro505Pro|1850/2057|1515/1668|505/555||,G|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001163523.1|protein_coding|2/2|c.1491A>G|p.Pro497Pro|1740/1947|1491/1644|497/547||,G|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001324490.1|protein_coding|2/2|c.1491A>G|p.Pro497Pro|1532/1739|1491/1644|497/547||,G|synonymous_variant|LOW|ITPRIPL1|ITPRIPL1|transcript|NM_001163524.1|protein_coding|2/2|c.1491A>G|p.Pro497Pro|1607/1814|1491/1644|497/547||;p3_1000G_AA=G|||;p3_1000G_AC=1903;p3_1000G_AF=0.379992;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=19077;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=96993884;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1245,3161;ESP6500_AA_AGE=705.2+/-407.2;ESP6500_AA_GTC=178,889,1136;ESP6500_CDS_SIZES=NM_178495.5:1692,NM_001163524.1:1644,NM_001163523.1:1644,NM_001008949.2:1668;ESP6500_CG=-11.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=68;ESP6500_EA_AC=2885,5715;ESP6500_EA_AGE=672.5+/-402.9;ESP6500_EA_GTC=508,1869,1923;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178495.5:coding-synonymous,NM_001163524.1:coding-synonymous,NM_001163523.1:coding-synonymous,NM_001008949.2:coding-synonymous;ESP6500_GL=ITPRIPL1;ESP6500_GRCh38_POSITION=2:96328146;ESP6500_GTC=686,2758,3059;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178495.5:c.1539A>G,NM_001163524.1:c.1491A>G,NM_001163523.1:c.1491A>G,NM_001008949.2:c.1515A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178495.5:p.(P513),NM_001163524.1:p.(P497),NM_001163523.1:p.(P497),NM_001008949.2:p.(P505);ESP6500_MAF=33.5465,28.2569,31.7546;ESP6500_TAC=4130,8876	GT:AD:DP:GQ:PL	0/1:45,33:78:99:863,0,1150
chr2	96364509	rs2305935	T	C	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.93;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.72;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305935;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|NCAPH|NCAPH|transcript|NM_015341.4|protein_coding|13/18|c.1616T>C|p.Val539Ala|1705/6059|1616/2226|539/741||,C|missense_variant|MODERATE|NCAPH|NCAPH|transcript|NM_001281710.1|protein_coding|13/18|c.1583T>C|p.Val528Ala|1672/6026|1583/2193|528/730||,C|missense_variant|MODERATE|NCAPH|NCAPH|transcript|NM_001281711.1|protein_coding|13/18|c.1544T>C|p.Val515Ala|1633/5987|1544/2154|515/717||,C|missense_variant|MODERATE|NCAPH|NCAPH|transcript|NM_001281712.1|protein_coding|12/17|c.1208T>C|p.Val403Ala|1452/5806|1208/1818|403/605||;p3_1000G_AA=C|||;p3_1000G_AC=1908;p3_1000G_AF=0.38099;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=21877;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.3221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97030247;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1249,3157;ESP6500_AA_AGE=704.7+/-407.2;ESP6500_AA_GTC=179,891,1133;ESP6500_CDS_SIZES=NM_015341.3:2226;ESP6500_CG=4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=2881,5719;ESP6500_EA_AGE=672.7+/-403.0;ESP6500_EA_GTC=508,1865,1927;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015341.3:missense;ESP6500_GL=NCAPH;ESP6500_GRCh38_POSITION=2:96364509;ESP6500_GS=64;ESP6500_GTC=687,2756,3060;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015341.3:c.1616T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015341.3:p.(V539A);ESP6500_MAF=33.5,28.3477,31.7546;ESP6500_PH=benign:0.0;ESP6500_TAC=4130,8876	GT:AD:DP:GQ:PL	0/1:19,14:33:99:393,0,477
chr2	96500467	rs3731938	A	G	717.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731938;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|NEURL3|NEURL3|transcript|NM_001285485.1|protein_coding|2/4|c.486T>C|p.Tyr162Tyr|585/1489|486/789|162/262||,G|synonymous_variant|LOW|NEURL3|NEURL3|transcript|NM_001285486.1|protein_coding|3/6|c.12T>C|p.Tyr4Tyr|764/1753|12/387|4/128||,G|non_coding_transcript_exon_variant|MODIFIER|NEURL3|NEURL3|transcript|NR_104346.1|pseudogene|2/4|n.774T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3651;p3_1000G_AF=0.729034;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=14139;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.6123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97166204;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2460,1558;ESP6500_AA_GTC=782,896,331;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=16;ESP6500_EA_AC=5262,3068;ESP6500_EA_GTC=1677,1908,580;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:96500467;ESP6500_GTC=2459,2804,911;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=36.8307,38.7755,37.4636;ESP6500_TAC=7722,4626	GT:AD:DP:GQ:PL	1/1:0,22:22:66:746,66,0
chr2	96610947	rs563136094	C	G	663.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.82;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.243;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=-0.582;SOR=0.791;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|KANSL3|KANSL3|transcript|NM_001115016.2|protein_coding|10/20|c.1162-64G>C||||||,G|intron_variant|MODIFIER|KANSL3|KANSL3|transcript|NR_047658.1|pseudogene|10/19|n.1286-64G>C||||||,G|intron_variant|MODIFIER|KANSL3|KANSL3|transcript|NR_047653.1|pseudogene|10/20|n.1370-64G>C||||||,G|intron_variant|MODIFIER|KANSL3|KANSL3|transcript|NR_047654.1|pseudogene|10/20|n.1370-64G>C||||||,G|intron_variant|MODIFIER|KANSL3|KANSL3|transcript|NR_047655.1|pseudogene|9/20|n.1218-64G>C||||||,G|intron_variant|MODIFIER|KANSL3|KANSL3|transcript|NR_047656.1|pseudogene|9/19|n.1218-64G>C||||||,G|intron_variant|MODIFIER|KANSL3|KANSL3|transcript|NR_047657.1|pseudogene|10/20|n.1309-64G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20753;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97276684;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,22:39:99:692,0,559
chr2	96647713	rs749949	C	G	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.267;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.718;SOR=0.701;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60959055;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|FER1L5|FER1L5|transcript|NM_001293083.1|protein_coding|3/52|c.231-65C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=1844;p3_1000G_AF=0.368211;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=18640;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97313450;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7147;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,24:45:99:0|1:96647713_C_G:638,0,659
chr2	96686103	rs7599598	A	G	691.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=5.033;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.04;SOR=1.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7599598;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|FER1L5|FER1L5|transcript|NM_001293083.1|protein_coding|22/53|c.2059A>G|p.Thr687Ala|2159/6467|2059/6174|687/2057||;p3_1000G_AA=G|||;p3_1000G_AC=2528;p3_1000G_AF=0.504792;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97351840;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1136,248;ESP6500_AA_GTC=467,202,23;ESP6500_CDS_SIZES=NM_001113382.1:6282;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=80;ESP6500_EA_AC=1288,1894;ESP6500_EA_GTC=252,784,555;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001113382.1:missense;ESP6500_GL=FER1L5;ESP6500_GRCh38_POSITION=2:96686103;ESP6500_GS=58;ESP6500_GTC=719,986,578;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001113382.1:c.2044A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001113382.1:p.(T682A);ESP6500_MAF=40.4777,17.9191,46.912;ESP6500_PH=benign:0.0;ESP6500_TAC=2424,2142	GT:AD:DP:GQ:PL	0/1:37,27:64:99:720,0,916
chr2	96700351	rs61742095	T	C	784.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=88;ExcessHet=3.0103;FS=4.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-2.671;SOR=0.817;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61742095;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|FER1L5|FER1L5|transcript|NM_001293083.1|protein_coding|45/53|c.4950T>C|p.Val1650Val|5050/6467|4950/6174|1650/2057||;p3_1000G_AA=T|||;p3_1000G_AC=399;p3_1000G_AF=0.0796725;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=20706;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0716;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97366088;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=315,3773;ESP6500_AA_GTC=16,283,1745;ESP6500_CDS_SIZES=NM_001113382.1:6282;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=103;ESP6500_EA_AC=582,7756;ESP6500_EA_GTC=28,526,3615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001113382.1:coding-synonymous;ESP6500_GL=FER1L5;ESP6500_GRCh38_POSITION=2:96700351;ESP6500_GTC=44,809,5360;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001113382.1:c.5031T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001113382.1:p.(V1677);ESP6500_MAF=6.9801,7.7055,7.2187;ESP6500_TAC=897,11529	GT:AD:DP:GQ:PL	0/1:56,32:88:99:813,0,1434
chr2	96842326	.	A	T	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=-0.674;SOR=1.609;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|ANKRD23|ANKRD23|transcript|NM_144994.7|protein_coding|2/8|c.174+39T>A||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:54:54,0,59
chr2	96863623	rs59271006	T	A	658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.94;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs59271006;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|SEMA4C|SEMA4C|transcript|NM_017789.4|protein_coding|12/14|c.1443+59A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2124;p3_1000G_AF=0.424121;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=22792;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97529360;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:687,60,0
chr2	96878199	rs12473528	T	C	284.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12473528;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_001122646.2|protein_coding|15/16|c.1855-157A>G||||||,C|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_001172667.1|protein_coding|3/4|c.232-157A>G||||||,C|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_016490.4|protein_coding|3/4|c.175-157A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3101;p3_1000G_AF=0.619209;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=19997;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97543936;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:313,27,0
chr2	96878352	rs6750988	G	C	416.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.77;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6750988;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_001122646.2|protein_coding|15/16|c.1854+64C>G||||||,C|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_001172667.1|protein_coding|3/4|c.231+64C>G||||||,C|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_016490.4|protein_coding|3/4|c.174+64C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2840;p3_1000G_AF=0.567093;p3_1000G_AFR_AF=0.5303;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=17386;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97544089;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:445,42,0
chr2	96894022	rs11677797	G	A	899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=1.143;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11677797;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|FAM178B|FAM178B|transcript|NM_001122646.2|protein_coding|14/17|c.1680C>T|p.Leu560Leu|1931/2685|1680/2040|560/679||,A|synonymous_variant|LOW|FAM178B|FAM178B|transcript|NM_001172667.1|protein_coding|2/5|c.57C>T|p.Leu19Leu|132/886|57/417|19/138||,A|5_prime_UTR_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_016490.4|protein_coding|2/5|c.-1C>T|||||1|;p3_1000G_AA=.|||;p3_1000G_AC=2146;p3_1000G_AF=0.428514;p3_1000G_AFR_AF=0.236;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=17897;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.1491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97559759;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1122,3282;ESP6500_AA_AGE=394.7+/-329.4;ESP6500_AA_GTC=151,820,1231;ESP6500_CDS_SIZES=NM_016490.4:360,NM_001172667.1:417,NM_001122646.2:2040;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=61;ESP6500_EA_AC=1572,7024;ESP6500_EA_AGE=290.9+/-300.1;ESP6500_EA_GTC=138,1296,2864;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016490.4:utr-5,NM_001172667.1:coding-synonymous,NM_001122646.2:coding-synonymous;ESP6500_GL=FAM178B;ESP6500_GRCh38_POSITION=2:96894022;ESP6500_GTC=289,2116,4095;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016490.4:c.-1C>T,NM_001172667.1:c.57C>T,NM_001122646.2:c.1680C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_001172667.1:p.(L19),NM_001122646.2:p.(L560);ESP6500_MAF=18.2876,25.4768,20.7231;ESP6500_TAC=2694,10306	GT:AD:DP:GQ:PL	1/1:0,30:30:90:928,90,0
chr2	96894892	rs13421275	C	T	170.81	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13421275;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_001122646.2|protein_coding|13/16|c.1651-841G>A||||||,T|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_001172667.1|protein_coding|1/4|c.27+169G>A||||||,T|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_016490.4|protein_coding|1/4|c.-30-841G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2149;p3_1000G_AF=0.429113;p3_1000G_AFR_AF=0.236;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=3595;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97560629;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:20:199,20,0
chr2	96895176	rs4907206	C	T	1228.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=2.891;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4907206;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_001172667.1|protein_coding||c.-89G>A|||||14|,T|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_001122646.2|protein_coding|13/16|c.1651-1125G>A||||||,T|intron_variant|MODIFIER|FAM178B|FAM178B|transcript|NM_016490.4|protein_coding|1/4|c.-30-1125G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2090;p3_1000G_AF=0.417332;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=14142;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.1551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97560913;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1257,117,0
chr2	97029488	rs1256988	A	C	1186.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.55;QD=33.91;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1256988;dbSNPBuildID=87;ANN=C|intergenic_region|MODIFIER|FAM178B-FAHD2B|FAM178B-FAHD2B|intergenic_region|FAM178B-FAHD2B|||n.97029488A>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16695;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97695225;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1215,105,0
chr2	97030467	rs372631679	A	C	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=59.91;MQRankSum=-0.605;QD=16.52;ReadPosRankSum=1.09;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs372631679;dbSNPBuildID=138;ANN=C|intergenic_region|MODIFIER|FAM178B-FAHD2B|FAM178B-FAHD2B|intergenic_region|FAM178B-FAHD2B|||n.97030467A>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16101;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97696204;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:210,0,123
chr2	97083680	rs140620633	C	T	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.489;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=7.52;MLEAC=1;MLEAF=0.5;MQ=57.79;MQRankSum=-7.007;QD=2.44;ReadPosRankSum=-1.431;SOR=0.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140620633;dbSNPBuildID=134;ANN=T|3_prime_UTR_variant|MODIFIER|FAHD2B|FAHD2B|transcript|NM_001320848.1|protein_coding|9/9|c.*75G>A|||||75|,T|3_prime_UTR_variant|MODIFIER|FAHD2B|FAHD2B|transcript|NM_199336.2|protein_coding|8/8|c.*75G>A|||||75|	GT:AD:DP:GQ:PL	0/1:49,9:58:99:170,0,2429
chr2	97142461	rs56786098	G	A	167.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.44;MQRankSum=-2.2;QD=18.64;ReadPosRankSum=0.508;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56786098;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|6/75|c.800-179G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3472;p3_1000G_AF=0.693291;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=18366;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97808198;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:59:196,0,59
chr2	97142481	rs79070930	A	G	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.14;MQRankSum=-2.467;QD=19.4;ReadPosRankSum=0.718;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79070930;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|6/75|c.800-159A>G||||||	GT:AD:DP:GQ:PL	0/1:3,9:12:74:261,0,74
chr2	97142492	rs74969160	G	A	209.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.195;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.66;MQRankSum=-2.863;QD=16.14;ReadPosRankSum=1.3;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74969160;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|6/75|c.800-148G>A||||||	GT:AD:DP:GQ:PL	0/1:4,9:13:99:238,0,135
chr2	97142577	rs200495869	G	T	38.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.001;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=2.102;MLEAC=1;MLEAF=0.5;MQ=46.39;MQRankSum=-2.262;QD=1.17;ReadPosRankSum=-0.28;SOR=0.248;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200495869;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|6/75|c.800-63G>T||||||	GT:AD:DP:GQ:PL	0/1:27,6:33:67:67,0,828
chr2	97142609	rs62153042	T	C	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.121;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=5.03;MLEAC=1;MLEAF=0.5;MQ=47.67;MQRankSum=-3.517;QD=3.84;ReadPosRankSum=-0.3;SOR=0.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62153042;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|6/75|c.800-31T>C||||||	GT:AD:DP:GQ:PL	0/1:34,12:46:99:205,0,1177
chr2	97142612	rs62153043	T	C	765.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.632;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=16.132;MLEAC=1;MLEAF=0.5;MQ=47.64;MQRankSum=-5.858;QD=15.32;ReadPosRankSum=-1.593;SOR=0.884;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62153043;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|6/75|c.800-28T>C||||||	GT:AD:DP:GQ:PL	0/1:22,28:50:99:794,0,581
chr2	97142657	rs62153044	C	G	578.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.378;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=13.143;MLEAC=1;MLEAF=0.5;MQ=47.95;MQRankSum=-6.065;QD=11.35;ReadPosRankSum=1.3;SOR=0.905;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62153044;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|7/76|c.817C>G|p.Pro273Ala|1061/6268|817/5826|273/1941||	GT:AD:DP:GQ:PL	0/1:23,28:51:99:607,0,743
chr2	97151826	rs112026456	C	CA	46.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.541;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=14.84;MLEAC=1;MLEAF=0.5;MQ=41.2;MQRankSum=-1.283;QD=0.97;ReadPosRankSum=0.25;SOR=0.016;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112026456;dbSNPBuildID=132;ANN=CA|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|12/75|c.1102-53_1102-52insA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:42,6:48:84:0|1:97151826_C_CA:84,0,1772
chr2	97152451	rs141129874	T	C	34.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.191;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.32;MQRankSum=-3.564;QD=1.45;ReadPosRankSum=-1.408;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141129874;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|13/75|c.1163-53T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,3:24:63:0|1:97152409_G_A:63,0,1294
chr2	97152455	rs202154783	A	G	55.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.197;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.32;MQRankSum=-3.564;QD=2.32;ReadPosRankSum=-1.156;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202154783;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|13/75|c.1163-49A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,3:24:84:0|1:97152409_G_A:84,0,1291
chr2	97152460	rs200340181	G	T	55.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.524;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.68;MQRankSum=-3.909;QD=2.23;ReadPosRankSum=-1.762;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200340181;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|13/75|c.1163-44G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,4:25:84:0|1:97152409_G_A:84,0,1291
chr2	97163192	rs62153883	A	G	565.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.38;MQRankSum=-2.475;QD=14.89;ReadPosRankSum=-0.538;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79735975;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1429+1054A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=3104;p3_1000G_AF=0.619808;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=11307;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.8847;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97828929;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,23:38:99:594,0,423
chr2	97163198	rs201360881	C	T	25.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.579;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.469;MLEAC=1;MLEAF=0.5;MQ=48.89;MQRankSum=-0.799;QD=0.6;ReadPosRankSum=1.01;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201360881;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1429+1060C>T||||||	GT:AD:DP:GQ:PL	0/1:38,5:43:54:54,0,1430
chr2	97163245	rs62153884	C	T	1088.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.355;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=1.167;MLEAC=1;MLEAF=0.5;MQ=42.82;MQRankSum=-3.353;QD=17.56;ReadPosRankSum=0.707;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62153884;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-1038C>T||||||	GT:AD:DP:GQ:PL	0/1:14,48:62:99:1117,0,248
chr2	97163266	rs145086333	CAAAAATAA	C	1974.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.523;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=2.494;MLEAC=1;MLEAF=0.5;MQ=40.95;MQRankSum=-3.991;QD=30.86;ReadPosRankSum=1.16;SOR=0.417;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs145086333;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-1011_1430-1004delTAAAAAAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:15,49:64:99:2012,0,482
chr2	97163286	rs771454086	T	A	43.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.691;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.4;MQRankSum=1.23;QD=0.68;ReadPosRankSum=0.564;SOR=0.599;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-997T>A||||||	GT:AD:DP:GQ:PL	0/1:54,10:64:72:72,0,1736
chr2	97163292	rs146874874	G	A	1958.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.172;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.86;MQRankSum=-4.836;QD=29.24;ReadPosRankSum=1.98;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146874874;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-991G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,49:67:99:0|1:97163292_G_A:1987,0,608
chr2	97163293	rs140945055	T	G	1958.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.726;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.86;MQRankSum=-4.836;QD=29.24;ReadPosRankSum=1.83;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140945055;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-990T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,49:67:99:0|1:97163292_G_A:1987,0,608
chr2	97163382	rs753484418	ATG	A	436.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.924;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.643;MLEAC=1;MLEAF=0.5;MQ=43.62;MQRankSum=-4.498;QD=14.09;ReadPosRankSum=-0.099;SOR=1.14;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-900_1430-899delTG||||||	GT:AD:DP:GQ:PL	0/1:15,16:31:99:474,0,564
chr2	97163388	rs1411047130	ACTT	A	277.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.14;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.34;MQRankSum=-4.015;QD=10.68;ReadPosRankSum=1.51;SOR=0.631;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-894_1430-892delCTT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,11:26:99:0|1:97163388_ACTT_A:315,0,579
chr2	97163392	rs1331256200	T	TAC	255.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.891;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.36;MQRankSum=-3.876;QD=10.23;ReadPosRankSum=1.81;SOR=0.941;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=TAC|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-891_1430-890insAC||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,10:25:99:0|1:97163388_ACTT_A:293,0,582
chr2	97163407	rs62153885	T	G	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.08;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.419;MLEAC=1;MLEAF=0.5;MQ=46.62;MQRankSum=-3.921;QD=13.51;ReadPosRankSum=-0.987;SOR=1.897;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62153885;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-876T>G||||||	GT:AD:DP:GQ:PL	0/1:10,11:21:99:312,0,206
chr2	97163467	rs75770158	C	T	24.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.15;MQRankSum=-2.369;QD=3.1;ReadPosRankSum=-0.272;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75770158;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-816C>T||||||	GT:AD:DP:GQ:PL	0/1:5,3:8:53:53,0,189
chr2	97164126	rs200832670	T	G	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.62;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.25;MQRankSum=-3.404;QD=6.55;ReadPosRankSum=-2.235;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200832670;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-157T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,5:16:99:0|1:97164126_T_G:133,0,474
chr2	97164129	rs201180053	C	T	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.355;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.36;MQRankSum=-3.071;QD=6.16;ReadPosRankSum=-1.636;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201180053;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-154C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,5:17:99:0|1:97164126_T_G:133,0,474
chr2	97164188	rs75624299	C	G	208.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=5.787;MLEAC=1;MLEAF=0.5;MQ=39.69;MQRankSum=-3.502;QD=7.73;ReadPosRankSum=0.251;SOR=2.799;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189153991;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-95C>G||||||	GT:AD:DP:GQ:PL	0/1:17,10:27:99:237,0,501
chr2	97164236	rs200092139	G	A	418.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.369;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=8.774;MLEAC=1;MLEAF=0.5;MQ=35.37;MQRankSum=-3.326;QD=11.63;ReadPosRankSum=1.78;SOR=2.564;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200092139;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-47G>A||||||	GT:AD:DP:GQ:PL	0/1:20,16:36:99:447,0,540
chr2	97164247	rs201356360	A	C	565.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.62;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=8.724;MLEAC=1;MLEAF=0.5;MQ=33.55;MQRankSum=-3.691;QD=16.64;ReadPosRankSum=0.863;SOR=2.419;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201356360;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-36A>C||||||	GT:AD:DP:GQ:PL	0/1:16,18:34:99:594,0,359
chr2	97164261	rs201970613	A	T	600.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.709;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=14.913;MLEAC=1;MLEAF=0.5;MQ=33.2;MQRankSum=-4.173;QD=16.24;ReadPosRankSum=0.579;SOR=3.047;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201970613;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-22A>T||||||	GT:AD:DP:GQ:PL	0/1:17,20:37:99:629,0,440
chr2	97164275	rs200393754	C	T	1015.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.824;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=4.631;MLEAC=1;MLEAF=0.5;MQ=32.75;MQRankSum=-4.069;QD=23.62;ReadPosRankSum=-1.019;SOR=1.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200393754;dbSNPBuildID=137;ANN=T|splice_region_variant&intron_variant|LOW|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-8C>T||||||	GT:AD:DP:GQ:PL	0/1:17,26:43:99:1044,0,603
chr2	97164279	rs201424946	G	T	660.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.165;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=6.439;MLEAC=1;MLEAF=0.5;MQ=33.1;MQRankSum=-4.006;QD=15.37;ReadPosRankSum=-0.134;SOR=1.004;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201424946;dbSNPBuildID=137;ANN=T|splice_region_variant&intron_variant|LOW|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-4G>T||||||	GT:AD:DP:GQ:PL	0/1:20,23:43:99:689,0,729
chr2	97164281	rs879405672	A	C	196.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.075;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.552;MLEAC=1;MLEAF=0.5;MQ=32.97;MQRankSum=-1.543;QD=4.37;ReadPosRankSum=-0.134;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNPBuildID=149;ANN=C|splice_acceptor_variant&intron_variant|HIGH|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|18/75|c.1430-2A>C||||||;LOF=(ANKRD36|ANKRD36|1|1.00)	GT:AD:DP:GQ:PL	0/1:37,8:45:99:225,0,1341
chr2	97164299	rs202135818	G	A	76.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.053;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.329;MLEAC=1;MLEAF=0.5;MQ=32.14;MQRankSum=-1.222;QD=1.42;ReadPosRankSum=-0.501;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202135818;dbSNPBuildID=137;ANN=A|synonymous_variant|LOW|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|19/76|c.1446G>A|p.Pro482Pro|1690/6268|1446/5826|482/1941||	GT:AD:DP:GQ:PL	0/1:44,10:54:99:105,0,1694
chr2	97164316	rs112213180	A	G	1095.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.03;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.18;MQRankSum=-5.889;QD=19.22;ReadPosRankSum=0.259;SOR=0.772;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112213180;dbSNPBuildID=132;ANN=G|splice_region_variant&intron_variant|LOW|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|19/75|c.1458+5A>G||||||	GT:AD:DP:GQ:PL	0/1:20,37:57:99:1124,0,519
chr2	97164367	rs62153886	G	A	767.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.778;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.461;MLEAC=1;MLEAF=0.5;MQ=42.12;MQRankSum=-6.978;QD=12;ReadPosRankSum=1.46;SOR=1.109;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62153886;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|19/75|c.1459-30G>A||||||	GT:AD:DP:GQ:PL	0/1:29,35:64:99:796,0,819
chr2	97164442	rs78284834	G	A	78.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=3.752;MLEAC=1;MLEAF=0.5;MQ=55.94;MQRankSum=-5.937;QD=1.92;ReadPosRankSum=-0.085;SOR=0.677;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78284834;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|20/76|c.1504G>A|p.Gly502Ser|1748/6268|1504/5826|502/1941||	GT:AD:DP:GQ:PL	0/1:34,7:41:99:107,0,969
chr2	97164455	rs199506401	T	C	22.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.98;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=6.741;MLEAC=1;MLEAF=0.5;MQ=56.57;MQRankSum=-5.881;QD=0.56;ReadPosRankSum=-1.073;SOR=1.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199506401;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|20/76|c.1517T>C|p.Leu506Pro|1761/6268|1517/5826|506/1941||	GT:AD:DP:GQ:PL	0/1:35,6:41:51:51,0,925
chr2	97167605	rs5008284	G	A	20.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.07;MQRankSum=-2.2;QD=2.31;ReadPosRankSum=0;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5008284;dbSNPBuildID=134;ANN=A|splice_region_variant&synonymous_variant|LOW|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|21/76|c.1560G>A|p.Thr520Thr|1804/6268|1560/5826|520/1941||	GT:AD:DP:GQ:PL	0/1:7,2:9:49:49,0,155
chr2	97167624	rs1358633	A	G	19.81	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=45.46;MQRankSum=-1.593;QD=1.98;ReadPosRankSum=0.493;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1358633;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|21/75|c.1560+19A>G||||||	GT:AD:DP:GQ:PL	0/1:8,2:10:48:48,0,210
chr2	97167657	rs1636143	C	T	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.778;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.47;MQRankSum=-1.282;QD=2.62;ReadPosRankSum=0.66;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1636143;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|21/75|c.1561-38C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:57:0|1:97167657_C_T:57,0,417
chr2	97167662	rs201829271	C	T	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.097;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.47;MQRankSum=-1.282;QD=2.62;ReadPosRankSum=0.66;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201829271;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|21/75|c.1561-33C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:57:0|1:97167657_C_T:57,0,417
chr2	97167664	rs5832832	T	TATTACTCA	51.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.875;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=43.47;MQRankSum=-1.282;QD=4.7;ReadPosRankSum=0.66;SOR=1.371;INS;HET;VARTYPE=INS;dbSNPBuildID=135;ANN=TATTACTCA|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|21/75|c.1561-27_1561-26insCTCAATTA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:89:0|1:97167657_C_T:89,0,414
chr2	97167729	rs112133169	C	T	40.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.544;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.932;MLEAC=1;MLEAF=0.5;MQ=38.36;MQRankSum=-0.259;QD=3.4;ReadPosRankSum=0.891;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112133169;dbSNPBuildID=132;ANN=T|missense_variant|MODERATE|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|22/76|c.1595C>T|p.Ala532Val|1839/6268|1595/5826|532/1941||	GT:AD:DP:GQ:PL	0/1:9,3:12:69:69,0,277
chr2	97167816	rs76811792	C	T	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.973;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=46.56;MQRankSum=-0.15;QD=5.31;ReadPosRankSum=-0.114;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76811792;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|22/75|c.1633+49C>T||||||	GT:AD:DP:GQ:PL	0/1:8,4:12:92:92,0,248
chr2	97167830	rs76160111	A	G	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=5.229;MLEAC=1;MLEAF=0.5;MQ=48.67;MQRankSum=0.352;QD=7.68;ReadPosRankSum=0.728;SOR=0.035;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76160111;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|22/75|c.1633+63A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,3:10:99:0|1:97167830_A_G:105,0,458
chr2	97167832	rs78400826	C	T	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.638;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=5.229;MLEAC=1;MLEAF=0.5;MQ=48.67;MQRankSum=0.352;QD=7.68;ReadPosRankSum=0.728;SOR=0.035;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78400826;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|22/75|c.1633+65C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,3:10:99:0|1:97167830_A_G:105,0,458
chr2	97185336	rs1402796432	GC	G	94.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.715;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=2.129;MLEAC=1;MLEAF=0.5;MQ=48.55;MQRankSum=-2.62;QD=3.06;ReadPosRankSum=1.14;SOR=0.25;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|frameshift_variant|HIGH|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/76|c.1962delC|p.Ser655fs|2206/6268|1962/5826|654/1941||INFO_REALIGN_3_PRIME;LOF=(ANKRD36|ANKRD36|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,5:31:99:0|1:97185336_GC_G:132,0,1077
chr2	97185340	rs961387199	C	G	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.324;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.96;MLEAC=1;MLEAF=0.5;MQ=48.03;MQRankSum=-2.421;QD=3.15;ReadPosRankSum=1.43;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=G|stop_gained|HIGH|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/76|c.1964C>G|p.Ser655*|2208/6268|1964/5826|655/1941||;LOF=(ANKRD36|ANKRD36|1|1.00);NMD=(ANKRD36|ANKRD36|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,5:32:99:0|1:97185336_GC_G:129,0,1143
chr2	97185341	rs1297719451	A	AG	91.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.186;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.96;MLEAC=1;MLEAF=0.5;MQ=48.03;MQRankSum=-2.421;QD=2.87;ReadPosRankSum=1.43;SOR=0.307;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=AG|frameshift_variant|HIGH|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/76|c.1965_1966insG|p.Lys656fs|2210/6268|1966/5826|656/1941||;LOF=(ANKRD36|ANKRD36|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,5:32:99:0|1:97185336_GC_G:129,0,1143
chr2	97185345	rs1368364794	GTAAT	G	100.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.477;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=2;MLEAC=1;MLEAF=0.5;MQ=46.95;MQRankSum=-1.818;QD=2.8;ReadPosRankSum=1.82;SOR=0.29;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|splice_region_variant&intron_variant|LOW|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/75|c.1968+5_1968+8delTTAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,5:36:99:0|1:97185336_GC_G:138,0,1410
chr2	97185359	rs1027523211	A	C	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.845;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.901;MLEAC=1;MLEAF=0.5;MQ=45.7;MQRankSum=-2.372;QD=2.52;ReadPosRankSum=2.67;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/75|c.1968+15A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:34,6:40:99:0|1:97185336_GC_G:129,0,1466
chr2	97185386	rs1330308898	A	G	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.815;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=44.8;MQRankSum=-2.61;QD=2.49;ReadPosRankSum=1.73;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/75|c.1968+42A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:38,6:44:99:0|1:97185386_A_G:138,0,1841
chr2	97185390	rs749265381	C	T	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.078;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.737;MLEAC=1;MLEAF=0.5;MQ=45.17;MQRankSum=-2.646;QD=2.11;ReadPosRankSum=1.45;SOR=0.343;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/75|c.1968+46C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,6:45:99:0|1:97185386_A_G:123,0,2051
chr2	97185391	rs1259738847	A	T	90.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.533;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.714;MLEAC=1;MLEAF=0.5;MQ=45.33;MQRankSum=-2.712;QD=1.93;ReadPosRankSum=1.4;SOR=0.356;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/75|c.1968+47A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:41,6:47:99:0|1:97185386_A_G:119,0,2093
chr2	97185400	rs1197588706	A	T	84.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.263;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.87;MQRankSum=-2.858;QD=1.63;ReadPosRankSum=0.817;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/75|c.1969-38A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:46,6:52:99:0|1:97185386_A_G:113,0,2177
chr2	97185405	rs375172653	C	A	75.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.629;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.61;MQRankSum=-2.901;QD=1.4;ReadPosRankSum=0.496;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs375172653;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/75|c.1969-33C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:48,6:54:99:0|1:97185386_A_G:104,0,2283
chr2	97185407	rs369748731	T	A	75.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.899;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.86;MQRankSum=-2.895;QD=1.4;ReadPosRankSum=0.248;SOR=0.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369748731;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|29/75|c.1969-31T>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:48,6:54:99:0|1:97185386_A_G:104,0,2283
chr2	97185540	rs74983014	G	T	49.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.021;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=22.897;MLEAC=1;MLEAF=0.5;MQ=58.71;MQRankSum=-4.716;QD=1.51;ReadPosRankSum=-2.021;SOR=3.222;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74983014;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+30G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,4:33:78:0|1:97185540_G_T:78,0,1216
chr2	97185545	rs76039043	G	A	55.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.25;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=23.975;MLEAC=1;MLEAF=0.5;MQ=58.63;MQRankSum=-4.571;QD=1.8;ReadPosRankSum=-1.447;SOR=3.222;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76039043;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+35G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,4:31:84:0|1:97185540_G_T:84,0,1160
chr2	97185547	rs1217960054	CCAG	C	49.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=23.975;MLEAC=1;MLEAF=0.5;MQ=58.63;MQRankSum=-4.571;QD=1.6;ReadPosRankSum=-1.032;SOR=3.222;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+38_2041+40delCAG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,4:31:87:0|1:97185540_G_T:87,0,1122
chr2	97185551	rs1265820097	A	ATT	55.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=22.753;MLEAC=1;MLEAF=0.5;MQ=58.63;MQRankSum=-4.755;QD=1.92;ReadPosRankSum=-0.791;SOR=3.222;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=ATT|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+42_2041+43insTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,4:29:93:0|1:97185540_G_T:93,0,1038
chr2	97185573	rs79933387	T	C	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.757;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=32.669;MLEAC=1;MLEAF=0.5;MQ=54.97;MQRankSum=-4.715;QD=10.59;ReadPosRankSum=-1.502;SOR=1.964;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79933387;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+63T>C||||||	GT:AD:DP:GQ:PL	0/1:16,9:25:99:293,0,482
chr2	97185587	rs796544533	G	GGGC	205.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.952;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=27.915;MLEAC=1;MLEAF=0.5;MQ=54.97;MQRankSum=-4.829;QD=8.57;ReadPosRankSum=1.03;SOR=1.967;INS;HET;VARTYPE=INS;dbSNPBuildID=146;ANN=GGGC|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+79_2041+80insCGG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:17,7:24:99:243,0,690
chr2	97185598	rs74835904	A	G	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.348;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=25.236;MLEAC=1;MLEAF=0.5;MQ=54.53;MQRankSum=-4.599;QD=12.7;ReadPosRankSum=2;SOR=1.968;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74835904;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+88A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,9:24:99:0|1:97185598_A_G:333,0,603
chr2	97185608	rs13417266	A	T	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=21.602;MLEAC=1;MLEAF=0.5;MQ=54.2;MQRankSum=-4.9;QD=12.1;ReadPosRankSum=2.41;SOR=2.211;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13417266;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+98A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,10:27:99:0|1:97185598_A_G:355,0,662
chr2	97185623	rs79110884	G	A	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.989;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=15.233;MLEAC=1;MLEAF=0.5;MQ=52.79;MQRankSum=-4.29;QD=16.17;ReadPosRankSum=2.28;SOR=2.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79110884;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+113G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,10:22:99:0|1:97185623_G_A:384,0,474
chr2	97185626	rs77691051	C	T	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.474;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=15.233;MLEAC=1;MLEAF=0.5;MQ=52.79;MQRankSum=-4.29;QD=16.17;ReadPosRankSum=2.41;SOR=2.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77691051;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+116C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,10:22:99:0|1:97185623_G_A:384,0,474
chr2	97185648	rs72947010	G	A	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.353;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=8.916;MLEAC=1;MLEAF=0.5;MQ=51.95;MQRankSum=-4.75;QD=14.88;ReadPosRankSum=0.51;SOR=0.899;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72947010;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+138G>A||||||	GT:AD:DP:GQ:PL	0/1:14,13:27:99:430,0,394
chr2	97185674	rs201174426	G	A	550.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.938;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.682;MLEAC=1;MLEAF=0.5;MQ=48.48;MQRankSum=-4.292;QD=22.03;ReadPosRankSum=-2.056;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201174426;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+164G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,15:25:99:0|1:97185674_G_A:579,0,375
chr2	97185678	rs78288445	T	G	550.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.949;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=48.24;MQRankSum=-4.249;QD=22.95;ReadPosRankSum=-2.259;SOR=0.772;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78288445;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+168T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,14:24:99:0|1:97185674_G_A:579,0,375
chr2	97185680	rs79210322	G	A	529.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.623;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=48.24;MQRankSum=-4.249;QD=22.07;ReadPosRankSum=-2.347;SOR=0.772;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79210322;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+170G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,14:24:99:0|1:97185674_G_A:558,0,378
chr2	97185683	rs201217673	C	A	529.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.622;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=48.24;MQRankSum=-4.249;QD=22.07;ReadPosRankSum=-2.346;SOR=0.772;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201217673;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+173C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=8;p3_1000G_AF=0.00159744;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17781;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=97851420;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,14:24:99:0|1:97185674_G_A:558,0,378
chr2	97185699	rs78154966	G	T	574.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.4;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.05;MQRankSum=-4.143;QD=23.95;ReadPosRankSum=-1.732;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78154966;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+189G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,15:24:99:0|1:97185699_G_T:603,0,333
chr2	97185706	rs199897459	G	C	628.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.25;MQRankSum=-4.04;QD=28.58;ReadPosRankSum=-0.769;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199897459;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+196G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,13:22:99:0|1:97185699_G_T:657,0,327
chr2	97185767	rs62154802	T	A	368.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.656;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.539;MLEAC=1;MLEAF=0.5;MQ=41.62;MQRankSum=-2.998;QD=19.41;ReadPosRankSum=1.65;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62154802;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|30/75|c.2041+257T>A||||||	GT:AD:DP:GQ:PL	0/1:4,15:19:99:397,0,99
chr2	97241171	rs76751247	A	G	133.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=37.92;MQRankSum=-0.524;QD=22.29;ReadPosRankSum=0.842;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144523001;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|68/75|c.4172-95A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,4:6:99:0|1:97241171_A_G:162,0,128
chr2	97241172	rs75539311	C	T	133.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=37.92;MQRankSum=-0.524;QD=22.29;ReadPosRankSum=0.842;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150304338;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|68/75|c.4172-94C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,4:6:99:0|1:97241171_A_G:162,0,128
chr2	97241175	rs79902081	A	C	133.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=37.92;MQRankSum=-0.524;QD=22.29;ReadPosRankSum=0.842;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143756892;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|68/75|c.4172-91A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,4:6:99:0|1:97241171_A_G:162,0,128
chr2	97241217	rs77145345	A	G	28.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.341;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=7.549;MLEAC=1;MLEAF=0.5;MQ=33.84;MQRankSum=0.799;QD=2.06;ReadPosRankSum=1.63;SOR=0.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200296023;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|68/75|c.4172-49A>G||||||	GT:AD:DP:GQ:PL	0/1:10,4:14:57:57,0,262
chr2	97241249	rs75651454	T	C	58.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=33.07;MQRankSum=1.5;QD=3.67;ReadPosRankSum=0;SOR=0.868;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141996870;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|68/75|c.4172-17T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,3:16:87:0|1:97241249_T_C:87,0,560
chr2	97241257	rs78039917	T	C	58.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.151;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=33.07;MQRankSum=1.5;QD=3.67;ReadPosRankSum=-0.395;SOR=0.868;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147471386;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|68/75|c.4172-9T>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,3:16:87:0|1:97241249_T_C:87,0,560
chr2	97241501	rs749355049	A	G	67.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=27;QD=22.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|ANKRD36|ANKRD36|transcript|NM_001164315.1|protein_coding|69/75|c.4385+22A>G||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:95,9,0
chr2	97513140	rs373000147	TAA	T	113.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.017;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=26.93;MQRankSum=-1.732;QD=11.37;ReadPosRankSum=-2.881;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs373000147;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/43|c.2805+38_2805+39delTT||||||;ESP6500_AA_AC=1216,1660;ESP6500_AA_GTC=252,712,474;ESP6500_CDS_SIZES=NM_025190.3:4062;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DP=7;ESP6500_EA_AC=1963,5481;ESP6500_EA_GTC=37,1889,1796;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025190.3:intron;ESP6500_GL=ANKRD36B;ESP6500_GRCh38_POSITION=2:97513140;ESP6500_GTC=289,2601,2270;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025190.3:c.2805+38_2805+39del2;ESP6500_MAF=26.3702,42.2809,30.8043;ESP6500_TAC=3179,7141	GT:AD:DP:GQ:PL	0/1:5,5:10:99:151,0,196
chr2	97513168	rs76575995	A	G	92.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.9;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=26.34;MQRankSum=-1.653;QD=4.88;ReadPosRankSum=0.395;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/43|c.2805+12T>C||||||	GT:AD:DP:GQ:PL	0/1:13,6:19:99:121,0,400
chr2	97513170	rs200565358	A	G	53.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.701;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.299;MLEAC=1;MLEAF=0.5;MQ=26.34;MQRankSum=0.722;QD=2.83;ReadPosRankSum=-2.363;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200565358;dbSNPBuildID=147;ANN=G|intron_variant|MODIFIER|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/43|c.2805+10T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=91;p3_1000G_AF=0.0181709;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13024;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98129633;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,5:19:82:82,0,447
chr2	97513219	rs71427057	T	C	700.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.85;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.58;MQRankSum=-3.379;QD=17.09;ReadPosRankSum=1.71;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140574837;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2766A>G|p.Ala922Ala|3046/5986|2766/4062|922/1353||;p3_1000G_AA=t|||;p3_1000G_AC=24;p3_1000G_AF=0.00479233;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs140574837;p3_1000G_DP=14601;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98129682;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,19:41:99:0|1:97513219_T_C:729,0,909
chr2	97513220	rs80135902	G	A	742.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.302;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.252;MLEAC=1;MLEAF=0.5;MQ=33.4;MQRankSum=-3.243;QD=17.68;ReadPosRankSum=1.87;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146417104;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2765C>T|p.Ala922Val|3045/5986|2765/4062|922/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,19:42:99:0|1:97513219_T_C:771,0,906
chr2	97513227	rs79390266	T	C	802.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.069;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.4;MQRankSum=-3.583;QD=17.84;ReadPosRankSum=1.4;SOR=0.833;SNP;HET;VARTYPE=SNP;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2758A>G|p.Lys920Glu|3038/5986|2758/4062|920/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,21:45:99:0|1:97513219_T_C:831,0,942
chr2	97513228	rs144708060	G	A	802.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.604;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.24;MQRankSum=-3.68;QD=17.45;ReadPosRankSum=1.08;SOR=0.72;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144708060;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2757C>T|p.Leu919Leu|3037/5986|2757/4062|919/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,22:46:99:0|1:97513219_T_C:831,0,942
chr2	97513244	rs79527710	G	T	1062.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.31;MLEAC=1;MLEAF=0.5;MQ=33.46;MQRankSum=-3.726;QD=18.98;ReadPosRankSum=0.344;SOR=1.189;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199925382;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2741C>A|p.Pro914Gln|3021/5986|2741/4062|914/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,28:56:99:0|1:97513244_G_T:1091,0,1071
chr2	97513253	rs80295552	A	G	1065.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.786;MLEAC=1;MLEAF=0.5;MQ=33.56;MQRankSum=-3.685;QD=19.38;ReadPosRankSum=0.109;SOR=1.281;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201019539;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2732T>C|p.Val911Ala|3012/5986|2732/4062|911/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,28:55:99:0|1:97513244_G_T:1094,0,1049
chr2	97513254	rs74341509	C	T	1065.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.65;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.786;MLEAC=1;MLEAF=0.5;MQ=33.56;MQRankSum=-3.685;QD=19.38;ReadPosRankSum=0.051;SOR=1.281;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201860439;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2731G>A|p.Val911Met|3011/5986|2731/4062|911/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,28:55:99:0|1:97513244_G_T:1094,0,1049
chr2	97513268	rs144131603	C	T	1113.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.176;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=5.668;MLEAC=1;MLEAF=0.5;MQ=33.82;MQRankSum=-3.661;QD=20.63;ReadPosRankSum=-1.128;SOR=1.427;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144131603;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2717G>A|p.Arg906Lys|2997/5986|2717/4062|906/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,29:54:99:0|1:97513268_C_T:1142,0,962
chr2	97513270	rs879468063	A	C	1140.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=5.668;MLEAC=1;MLEAF=0.5;MQ=33.82;MQRankSum=-3.661;QD=21.13;ReadPosRankSum=-0.937;SOR=1.427;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145533718;dbSNPBuildID=149;ANN=C|stop_gained|HIGH|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2715T>G|p.Tyr905*|2995/5986|2715/4062|905/1353||;LOF=(ANKRD36B|ANKRD36B|1|1.00);NMD=(ANKRD36B|ANKRD36B|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,29:54:99:0|1:97513268_C_T:1169,0,959
chr2	97513271	rs146893214	T	C	1147.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=5.668;MLEAC=1;MLEAF=0.5;MQ=33.82;MQRankSum=-3.661;QD=21.25;ReadPosRankSum=-1.067;SOR=1.427;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146893214;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2714A>G|p.Tyr905Cys|2994/5986|2714/4062|905/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,29:54:99:0|1:97513268_C_T:1176,0,957
chr2	97513281	rs5011473	C	T	1172.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.272;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=5.523;MLEAC=1;MLEAF=0.5;MQ=33.91;MQRankSum=-3.849;QD=20.94;ReadPosRankSum=-2.203;SOR=1.207;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141594775;dbSNPBuildID=147;ANN=T|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2704G>A|p.Glu902Lys|2984/5986|2704/4062|902/1353||	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,32:56:99:0|1:97513268_C_T:1201,0,912
chr2	97513354	rs879259208	T	C	165.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.799;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.515;MLEAC=1;MLEAF=0.5;MQ=37.71;MQRankSum=-0.978;QD=5.35;ReadPosRankSum=1.82;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199911436;dbSNPBuildID=149;ANN=C|missense_variant|MODERATE|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|38/44|c.2631A>G|p.Ile877Met|2911/5986|2631/4062|877/1353||	GT:AD:DP:GQ:PL	0/1:20,11:31:99:194,0,482
chr2	97554856	rs79124475	G	A	14.91	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=53.08;MQRankSum=-2.2;QD=1.66;ReadPosRankSum=-0.035;SOR=0.078;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79124475;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|ANKRD36B|ANKRD36B|transcript|NM_025190.3|protein_coding|14/43|c.1171+204C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,2:9:43:0|1:97554856_G_A:43,0,331
chr2	97834573	rs759634130	T	TA	21.76	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.253;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=1.65;SOR=1.022;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=TA|intron_variant|MODIFIER|TMEM131|TMEM131|transcript|NM_015348.1|protein_coding|10/40|c.1012+47dupT||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:37:59,0,37
chr2	98179410	rs11419620;rs397733799	T	TG	1199.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.28;SOR=2.115;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11419620;dbSNPBuildID=131,138;ANN=TG|intron_variant|MODIFIER|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|8/27|c.1115-1604dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4525;p3_1000G_AF=0.903554;p3_1000G_AFR_AF=0.8616;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=21258;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.8449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98795873;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9601;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1237,105,0
chr2	98187851	rs1466156	G	A	488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1466156;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|9/27|c.1312-124G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4697;p3_1000G_AF=0.937899;p3_1000G_AFR_AF=0.9849;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=19334;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.8439;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98804314;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:517,42,0
chr2	98228112	rs7606220	A	G	457.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7606220;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|14/27|c.2020-90A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3452;p3_1000G_AF=0.689297;p3_1000G_AFR_AF=0.6354;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=19607;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98844575;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8487;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:486,39,0
chr2	98228211	rs7601049	C	G	1421.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=1.005;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7601049;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|15/28|c.2029C>G|p.Leu677Val|2293/4747|2029/3885|677/1294||;p3_1000G_AA=C|||;p3_1000G_AC=3451;p3_1000G_AF=0.689097;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=20042;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98844674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8487;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2444,1386;ESP6500_AA_GTC=774,896,245;ESP6500_CDS_SIZES=NM_144992.4:3885;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=99;ESP6500_EA_AC=5055,3197;ESP6500_EA_GTC=1546,1963,617;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144992.4:missense;ESP6500_GL=VWA3B;ESP6500_GRCh38_POSITION=2:98228211;ESP6500_GS=32;ESP6500_GTC=2320,2859,862;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_144992.4:c.2029C>G;ESP6500_HGVS_PROTEIN_VAR=NM_144992.4:p.(L677V);ESP6500_MAF=38.7421,36.188,37.9325;ESP6500_PH=benign:0.319;ESP6500_TAC=7499,4583	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1450,126,0
chr2	98229942	rs12712252	A	T	157.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12712252;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|15/27|c.2151-108A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4648;p3_1000G_AF=0.928115;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=19786;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.8489;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98846405;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:186,15,0
chr2	98236669	rs188218936	C	T	771.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.449;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.962;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-2.013;SOR=0.483;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs188218936;dbSNPBuildID=135;ANN=T|missense_variant|MODERATE|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|19/28|c.2612C>T|p.Pro871Leu|2876/4747|2612/3885|871/1294||;p3_1000G_AA=C|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=16963;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98853132;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,32:64:99:800,0,739
chr2	98236710	rs11889349	G	A	1755.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11889349;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|19/28|c.2653G>A|p.Val885Met|2917/4747|2653/3885|885/1294||;p3_1000G_AA=g|||;p3_1000G_AC=3326;p3_1000G_AF=0.664137;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=19928;p3_1000G_EAS_AF=0.7976;p3_1000G_EUR_AF=0.5447;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98853173;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2459,1561;ESP6500_AA_GTC=749,961,300;ESP6500_CDS_SIZES=NM_144992.4:3885;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=141;ESP6500_EA_AC=4564,3812;ESP6500_EA_GTC=1250,2064,874;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144992.4:missense;ESP6500_GL=VWA3B;ESP6500_GRCh38_POSITION=2:98236710;ESP6500_GS=21;ESP6500_GTC=1999,3025,1174;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144992.4:c.2653G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144992.4:p.(V885M);ESP6500_MAF=45.511,38.8308,43.3446;ESP6500_PH=possibly-damaging:0.827;ESP6500_TAC=7023,5373	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1784,174,0
chr2	98245634	rs4851121	A	G	1682.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.34;SOR=2.078;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4851121;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|19/27|c.2674-4684A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4092;p3_1000G_AF=0.817093;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=19239;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98862097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1711,147,0
chr2	98256199	rs113487988;rs376176758;rs386390708;rs565041973	C	CT	94.92	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.489;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.887;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113487988,rs376176758;dbSNPBuildID=132,142,138,138;ANN=CT|intron_variant|MODIFIER|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|21/27|c.2843+36dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,7:8:5:131,0,5
chr2	98312031	rs7587534	G	A	1725.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=1.39;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7587534;dbSNPBuildID=116;ANN=A|missense_variant&splice_region_variant|MODERATE|VWA3B|VWA3B|transcript|NM_144992.4|protein_coding|27/28|c.3734G>A|p.Arg1245Lys|3998/4747|3734/3885|1245/1294||;p3_1000G_AA=A|||;p3_1000G_AC=4968;p3_1000G_AF=0.992013;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16038;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98928494;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3740,32;ESP6500_AA_GTC=1854,32,0;ESP6500_CDS_SIZES=NM_144992.4:3885;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=7829,345;ESP6500_EA_GTC=3745,339,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144992.4:missense-near-splice;ESP6500_GL=VWA3B;ESP6500_GRCh38_POSITION=2:98312031;ESP6500_GS=26;ESP6500_GTC=5599,371,3;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144992.4:c.3734G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144992.4:p.(R1245K);ESP6500_MAF=4.2207,0.8484,3.1559;ESP6500_PH=benign:0.0;ESP6500_TAC=11569,377	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1754,150,0
chr2	98378178	rs4146045	G	A	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.08;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.562;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.388;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4146045;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|CNGA3|CNGA3|transcript|NM_001298.2|protein_coding|3/7|c.215+378G>A||||||,A|intron_variant|MODIFIER|CNGA3|CNGA3|transcript|NM_001079878.1|protein_coding|3/6|c.215+378G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1020;p3_1000G_AF=0.203674;p3_1000G_AFR_AF=0.1188;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=17618;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.0934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=98994641;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,16:28:99:436,0,350
chr2	98396796	rs78583671;337663	C	T	1330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.86;ClippingRankSum=0;DP=116;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.053;SOR=0.699;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78583671;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|CNGA3|CNGA3|transcript|NM_001298.2|protein_coding|8/8|c.1626C>T|p.Ser542Ser|2043/3848|1626/2085|542/694||,T|synonymous_variant|LOW|CNGA3|CNGA3|transcript|NM_001079878.1|protein_coding|7/7|c.1572C>T|p.Ser524Ser|1989/3794|1572/2031|524/676||;p3_1000G_AA=C|||;p3_1000G_AC=80;p3_1000G_AF=0.0159744;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20759;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99013259;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4,4402;ESP6500_AA_AGE=8.1+/-20.4;ESP6500_AA_GTC=0,4,2199;ESP6500_CDS_SIZES=NM_001298.2:2085,NM_001079878.1:2031;ESP6500_CG=-7.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=126;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001298.2:coding-synonymous,NM_001079878.1:coding-synonymous;ESP6500_GL=CNGA3;ESP6500_GRCh38_POSITION=2:98396796;ESP6500_GTC=0,7,6496;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001298.2:c.1626C>T,NM_001079878.1:c.1572C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001298.2:p.(S542),NM_001079878.1:p.(S524);ESP6500_MAF=0.0349,0.0908,0.0538;ESP6500_TAC=7,12999;CLINVAR_AF_ESP=0.0005;CLINVAR_AF_EXAC=0.00639;CLINVAR_AF_TGP=0.0160;CLINVAR_ALLELEID=291361;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0011516,MedGen:C0152200,Orphanet:ORPHA49382,SNOMED_CT:56852002;CLINVAR_CLNDN=Achromatopsia;CLINVAR_CLNHGVS=NC_000002.12:g.98396796C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:160049;CLINVAR_GENEINFO=CNGA3:1261;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=78583671	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1359,0,1548
chr2	98533483	rs2278211	G	A	731.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=8.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.792;SOR=1.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278211;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|INPP4A|INPP4A|transcript|NM_001134224.1|protein_coding|5/26|c.258G>A|p.Thr86Thr|651/6752|258/2934|86/977||,A|synonymous_variant|LOW|INPP4A|INPP4A|transcript|NM_001566.2|protein_coding|5/26|c.258G>A|p.Thr86Thr|651/3323|258/2865|86/954||,A|synonymous_variant|LOW|INPP4A|INPP4A|transcript|NM_001134225.1|protein_coding|5/25|c.258G>A|p.Thr86Thr|651/6737|258/2919|86/972||,A|synonymous_variant|LOW|INPP4A|INPP4A|transcript|NM_004027.2|protein_coding|5/26|c.258G>A|p.Thr86Thr|651/6635|258/2817|86/938||;p3_1000G_AA=G|||;p3_1000G_AC=1154;p3_1000G_AF=0.230431;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=18892;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.2674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99149946;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=479,3711;ESP6500_AA_GTC=32,415,1648;ESP6500_CDS_SIZES=NM_004027.2:2817,NM_001566.2:2865,NM_001134225.1:2919,NM_001134224.1:2934;ESP6500_CG=-2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=112;ESP6500_EA_AC=2216,6242;ESP6500_EA_GTC=296,1624,2309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004027.2:coding-synonymous,NM_001566.2:coding-synonymous,NM_001134225.1:coding-synonymous,NM_001134224.1:coding-synonymous;ESP6500_GL=INPP4A;ESP6500_GRCh38_POSITION=2:98533483;ESP6500_GTC=328,2039,3957;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004027.2:c.258G>A,NM_001566.2:c.258G>A,NM_001134225.1:c.258G>A,NM_001134224.1:c.258G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004027.2:p.(T86),NM_001566.2:p.(T86),NM_001134225.1:p.(T86),NM_001134224.1:p.(T86);ESP6500_MAF=26.2,11.432,21.3077;ESP6500_TAC=2695,9953	GT:AD:DP:GQ:PL	0/1:37,29:66:99:760,0,889
chr2	98602648	rs772017669	CA	C	65.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.368;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=-1.031;SOR=1.038;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|COA5|COA5|transcript|NM_001008215.2|protein_coding|2/2|c.183+1459delT||||||	GT:AD:DP:GQ:PL	0/1:6,7:13:99:103,0,130
chr2	98618123	rs374175134;rs566349570	A	AT	31.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.17;ReadPosRankSum=-1.255;SOR=0.307;INS;HET;VARTYPE=INS;dbSNP138_ID=rs373790267;dbSNPBuildID=142,142;ANN=AT|downstream_gene_variant|MODIFIER|MGAT4A|MGAT4A|transcript|NM_012214.2|protein_coding||c.*7442dupA|||||982|,AT|downstream_gene_variant|MODIFIER|MGAT4A|MGAT4A|transcript|NM_001160154.1|protein_coding||c.*3307dupA|||||982|,AT|intron_variant|MODIFIER|UNC50|UNC50|transcript|NM_014044.5|protein_coding|5/5|c.644-30dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2461;p3_1000G_AF=0.491414;p3_1000G_AFR_AF=0.497;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=18492;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99234586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,4:10:69:69,0,103
chr2	98655594	rs3754870	T	C	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.383;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.862;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=-1.519;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754870;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MGAT4A|MGAT4A|transcript|NM_012214.2|protein_coding|7/15|c.699-74A>G||||||,C|intron_variant|MODIFIER|MGAT4A|MGAT4A|transcript|NM_001160154.1|protein_coding|4/12|c.315-74A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3335;p3_1000G_AF=0.665935;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=18251;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99272057;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,7:20:99:154,0,335
chr2	98658190	rs2271670	T	C	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.22;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.33;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271670;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MGAT4A|MGAT4A|transcript|NM_012214.2|protein_coding|6/15|c.584+28A>G||||||,C|intron_variant|MODIFIER|MGAT4A|MGAT4A|transcript|NM_001160154.1|protein_coding|3/12|c.200+28A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3299;p3_1000G_AF=0.658746;p3_1000G_AFR_AF=0.8979;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=15558;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.4453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99274653;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3675,721;ESP6500_AA_AGE=722.4+/-409.3;ESP6500_AA_GTC=1534,607,57;ESP6500_CDS_SIZES=NM_012214.2:1608,NM_001160154.1:1272;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=3739,4815;ESP6500_EA_AGE=518.1+/-379.2;ESP6500_EA_GTC=826,2087,1364;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012214.2:intron,NM_001160154.1:intron;ESP6500_GL=MGAT4A;ESP6500_GRCh38_POSITION=2:98658190;ESP6500_GTC=2360,2694,1421;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012214.2:c.584+28A>G,NM_001160154.1:c.200+28A>G;ESP6500_MAF=43.7105,16.4013,42.749;ESP6500_TAC=7414,5536	GT:AD:DP:GQ:PL	0/1:7,12:19:99:261,0,129
chr2	99071664	rs75123748	A	G	662.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75123748;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|TSGA10|TSGA10|transcript|NM_025244.2|protein_coding|14/20|c.1107+42T>C||||||,G|intron_variant|MODIFIER|TSGA10|TSGA10|transcript|NM_182911.3|protein_coding|13/19|c.1107+42T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=464;p3_1000G_AF=0.0926518;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=17104;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99688127;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=434,3970;ESP6500_AA_GTC=28,378,1796;ESP6500_CDS_SIZES=NM_182911.3:2097,NM_025244.2:2097;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=39;ESP6500_EA_AC=122,8474;ESP6500_EA_GTC=2,118,4178;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182911.3:intron,NM_025244.2:intron;ESP6500_GL=TSGA10;ESP6500_GRCh38_POSITION=2:99071664;ESP6500_GTC=30,496,5974;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182911.3:c.1107+42T>C,NM_025244.2:c.1107+42T>C;ESP6500_MAF=1.4193,9.8547,4.2769;ESP6500_TAC=556,12444	GT:AD:DP:GQ:PL	1/1:0,20:20:59:691,59,0
chr2	99108760	rs6542864	A	G	315.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6542864;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TSGA10|TSGA10|transcript|NM_025244.2|protein_coding|7/20|c.210+73T>C||||||,G|intron_variant|MODIFIER|TSGA10|TSGA10|transcript|NM_182911.3|protein_coding|6/19|c.210+73T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3107;p3_1000G_AF=0.620407;p3_1000G_AFR_AF=0.4062;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=18169;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.6461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99725223;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:344,30,0
chr2	99109016	rs11396964	A	AT	335.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11396964;dbSNPBuildID=126;ANN=AT|intron_variant|MODIFIER|TSGA10|TSGA10|transcript|NM_025244.2|protein_coding|6/20|c.52-26dupA||||||,AT|intron_variant|MODIFIER|TSGA10|TSGA10|transcript|NM_182911.3|protein_coding|5/19|c.52-26dupA||||||;p3_1000G_AA=TT|T|TT|deletion;p3_1000G_AC=3062;p3_1000G_AF=0.611422;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=15621;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.6461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99725479;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=INDEL;ESP6500_AA_AC=1856,2354;ESP6500_AA_GTC=451,954,700;ESP6500_CDS_SIZES=NM_182911.3:2097,NM_025244.2:2097;ESP6500_CG=1.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=5330,2910;ESP6500_EA_GTC=1719,1892,509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182911.3:intron,NM_025244.2:intron;ESP6500_GL=TSGA10;ESP6500_GRCh38_POSITION=2:99109016;ESP6500_GTC=2170,2846,1209;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_182911.3:c.52-26_52-25insA,NM_025244.2:c.52-26_52-25insA;ESP6500_MAF=35.3155,44.0855,42.2811;ESP6500_TAC=7186,5264	GT:AD:DP:GQ:PL	1/1:0,10:10:30:373,30,0
chr2	99150464	rs769550771	CT	C	127.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.799;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=1.3;SOR=0.148;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|splice_region_variant&intron_variant|LOW|C2orf15|C2orf15|transcript|NM_001317992.1|protein_coding|4/4|c.27-4delT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|C2orf15|C2orf15|transcript|NM_144706.3|protein_coding|3/3|c.27-4delT||||||INFO_REALIGN_3_PRIME,C|upstream_gene_variant|MODIFIER|LIPT1|LIPT1|transcript|NM_001204830.1|protein_coding||c.-11493delT|||||4609|,C|upstream_gene_variant|MODIFIER|LIPT1|LIPT1|transcript|NM_015929.3|protein_coding||c.-11493delT|||||4490|,C|upstream_gene_variant|MODIFIER|LIPT1|LIPT1|transcript|NM_145197.2|protein_coding||c.-11493delT|||||4490|,C|upstream_gene_variant|MODIFIER|LIPT1|LIPT1|transcript|NM_145198.2|protein_coding||c.-11493delT|||||4490|,C|upstream_gene_variant|MODIFIER|LIPT1|LIPT1|transcript|NM_145199.2|protein_coding||c.-11493delT|||||4490|,C|upstream_gene_variant|MODIFIER|LIPT1|LIPT1|transcript|NR_037936.1|pseudogene||n.-4490delT|||||4490|,C|upstream_gene_variant|MODIFIER|LIPT1|LIPT1|transcript|NR_037935.1|pseudogene||n.-4609delT|||||4609|,C|intron_variant|MODIFIER|TSGA10|TSGA10|transcript|NM_025244.2|protein_coding|1/20|c.-621+4228delA||||||	GT:AD:DP:GQ:PL	0/1:11,9:20:99:165,0,235
chr2	99162272	rs3791211;380548	A	G	1773.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3791211;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_001204830.1|protein_coding|3/3|c.315A>G|p.Thr105Thr|737/1615|315/1122|105/373||,G|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_015929.3|protein_coding|3/3|c.315A>G|p.Thr105Thr|539/1417|315/1122|105/373||,G|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_145197.2|protein_coding|4/4|c.315A>G|p.Thr105Thr|667/1545|315/1122|105/373||,G|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_145198.2|protein_coding|4/4|c.315A>G|p.Thr105Thr|655/1533|315/1122|105/373||,G|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_145199.2|protein_coding|2/2|c.315A>G|p.Thr105Thr|413/1291|315/1122|105/373||,G|non_coding_transcript_exon_variant|MODIFIER|LIPT1|LIPT1|transcript|NR_037936.1|pseudogene|3/3|n.476A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|LIPT1|LIPT1|transcript|NR_037935.1|pseudogene|4/4|n.800A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=490;p3_1000G_AF=0.0978435;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=19041;p3_1000G_EAS_AF=0.2063;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99778735;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0245;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=582,3824;ESP6500_AA_AGE=254.0+/-259.7;ESP6500_AA_GTC=50,482,1671;ESP6500_CDS_SIZES=NM_145199.2:1122,NM_145198.2:1122,NM_145197.2:1122,NM_015929.3:1122,NM_001204830.1:1122;ESP6500_CG=-8.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=57;ESP6500_EA_AC=118,8482;ESP6500_EA_AGE=61.7+/-123.6;ESP6500_EA_GTC=2,114,4184;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145199.2:coding-synonymous,NM_145198.2:coding-synonymous,NM_145197.2:coding-synonymous,NM_015929.3:coding-synonymous,NM_001204830.1:coding-synonymous;ESP6500_GL=LIPT1;ESP6500_GRCh38_POSITION=2:99162272;ESP6500_GTC=52,596,5855;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145199.2:c.315A>G,NM_145198.2:c.315A>G,NM_145197.2:c.315A>G,NM_015929.3:c.315A>G,NM_001204830.1:c.315A>G;ESP6500_HGVS_PROTEIN_VAR=NM_145199.2:p.(T105),NM_145198.2:p.(T105),NM_145197.2:p.(T105),NM_015929.3:p.(T105),NM_001204830.1:p.(T105);ESP6500_MAF=1.3721,13.2093,5.3821;ESP6500_TAC=700,12306;CLINVAR_ALLELEID=366838;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.99162272A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LIPT1:51601|MITD1:129531;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3791211	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1802,164,0
chr2	99162522	rs2632277;379991	T	C	2677.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.33;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2632277;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_001204830.1|protein_coding|3/3|c.565T>C|p.Leu189Leu|987/1615|565/1122|189/373||,C|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_015929.3|protein_coding|3/3|c.565T>C|p.Leu189Leu|789/1417|565/1122|189/373||,C|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_145197.2|protein_coding|4/4|c.565T>C|p.Leu189Leu|917/1545|565/1122|189/373||,C|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_145198.2|protein_coding|4/4|c.565T>C|p.Leu189Leu|905/1533|565/1122|189/373||,C|synonymous_variant|LOW|LIPT1|LIPT1|transcript|NM_145199.2|protein_coding|2/2|c.565T>C|p.Leu189Leu|663/1291|565/1122|189/373||,C|non_coding_transcript_exon_variant|MODIFIER|LIPT1|LIPT1|transcript|NR_037936.1|pseudogene|3/3|n.726T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|LIPT1|LIPT1|transcript|NR_037935.1|pseudogene|4/4|n.1050T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2979;p3_1000G_AF=0.594848;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=20177;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99778985;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1801,2605;ESP6500_AA_AGE=528.9+/-372.5;ESP6500_AA_GTC=376,1049,778;ESP6500_CDS_SIZES=NM_145199.2:1122,NM_145198.2:1122,NM_145197.2:1122,NM_015929.3:1122,NM_001204830.1:1122;ESP6500_CG=4.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=118;ESP6500_EA_AC=5470,3130;ESP6500_EA_AGE=656.7+/-401.4;ESP6500_EA_GTC=1731,2008,561;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145199.2:coding-synonymous,NM_145198.2:coding-synonymous,NM_145197.2:coding-synonymous,NM_015929.3:coding-synonymous,NM_001204830.1:coding-synonymous;ESP6500_GL=LIPT1;ESP6500_GRCh38_POSITION=2:99162522;ESP6500_GTC=2107,3057,1339;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145199.2:c.565T>C,NM_145198.2:c.565T>C,NM_145197.2:c.565T>C,NM_015929.3:c.565T>C,NM_001204830.1:c.565T>C;ESP6500_HGVS_PROTEIN_VAR=NM_145199.2:p.(L189),NM_145198.2:p.(L189),NM_145197.2:p.(L189),NM_015929.3:p.(L189),NM_001204830.1:p.(L189);ESP6500_MAF=36.3953,40.8761,44.095;ESP6500_TAC=7271,5735;CLINVAR_ALLELEID=367057;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.99162522T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LIPT1:51601|MITD1:129531;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2632277	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2706,234,0
chr2	99186357	rs6757661	A	G	550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6757661;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MRPL30|MRPL30|transcript|NM_145212.3|protein_coding|2/5|c.51+103A>G||||||,G|intron_variant|MODIFIER|MRPL30|MRPL30|transcript|NR_028356.1|pseudogene|2/6|n.249+103A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3051;p3_1000G_AF=0.609225;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=17111;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.6471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99802820;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:47:579,47,0
chr2	99188179	rs10865030	T	C	805.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10865030;dbSNPBuildID=120;ANN=C|splice_region_variant&synonymous_variant|LOW|MRPL30|MRPL30|transcript|NM_145212.3|protein_coding|3/6|c.54T>C|p.Thr18Thr|252/4536|54/486|18/161||,C|splice_region_variant&non_coding_transcript_exon_variant|LOW|MRPL30|MRPL30|transcript|NR_028356.1|pseudogene|3/7|n.252T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4134;p3_1000G_AF=0.825479;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=16897;p3_1000G_EAS_AF=0.9534;p3_1000G_EUR_AF=0.8757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99804642;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3284,1122;ESP6500_AA_AGE=385.8+/-325.9;ESP6500_AA_GTC=1219,846,138;ESP6500_CDS_SIZES=NM_145212.3:486;ESP6500_CG=-5.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=44;ESP6500_EA_AC=7567,1027;ESP6500_EA_AGE=215.6+/-254.9;ESP6500_EA_GTC=3328,911,58;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145212.3:coding-synonymous;ESP6500_GL=MRPL30;ESP6500_GRCh38_POSITION=2:99188179;ESP6500_GTC=4547,1757,196;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145212.3:c.54T>C;ESP6500_HGVS_PROTEIN_VAR=NM_145212.3:p.(T18);ESP6500_MAF=11.9502,25.4653,16.5308;ESP6500_TAC=10851,2149	GT:AD:DP:GQ:PL	1/1:0,26:26:78:834,78,0
chr2	99195431	rs7605843	C	T	546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7605843;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MRPL30|MRPL30|transcript|NM_145212.3|protein_coding|5/5|c.354-142C>T||||||,T|intron_variant|MODIFIER|MRPL30|MRPL30|transcript|NR_028356.1|pseudogene|5/6|n.552-142C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3178;p3_1000G_AF=0.634585;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=17018;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.6481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99811894;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:575,48,0
chr2	99195607	rs1044575	G	A	2443.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.44;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1044575;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|MRPL30|MRPL30|transcript|NM_145212.3|protein_coding|6/6|c.388G>A|p.Ala130Thr|586/4536|388/486|130/161||,A|non_coding_transcript_exon_variant|MODIFIER|MRPL30|MRPL30|transcript|NR_028356.1|pseudogene|6/7|n.586G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3225;p3_1000G_AF=0.64397;p3_1000G_AFR_AF=0.4871;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=16757;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.6481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99812070;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2384,2022;ESP6500_AA_AGE=564.8+/-381.5;ESP6500_AA_GTC=646,1092,465;ESP6500_CDS_SIZES=NM_145212.3:486;ESP6500_CG=-2.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=158;ESP6500_EA_AC=5596,3004;ESP6500_EA_AGE=464.7+/-366.3;ESP6500_EA_GTC=1809,1978,513;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145212.3:missense;ESP6500_GL=MRPL30;ESP6500_GRCh38_POSITION=2:99195607;ESP6500_GS=58;ESP6500_GTC=2455,3070,978;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145212.3:c.388G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145212.3:p.(A130T);ESP6500_MAF=34.9302,45.892,38.6437;ESP6500_PH=benign:0.0;ESP6500_TAC=7980,5026	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2472,248,0
chr2	99243491	rs36096004;rs770239944	C	CAGAT	75.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.697;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.204;SOR=2.833;INS;HET;VARTYPE=INS;dbSNP138_ID=rs36096004,rs71376479;dbSNPBuildID=126,144;ANN=CAGAT|intron_variant|MODIFIER|LYG2|LYG2|transcript|NM_175735.3|protein_coding|5/5|c.520+504_520+507dupATCT||||||	GT:AD:DP:GQ:PL	0/1:4,3:7:99:113,0,185
chr2	99321838	rs13017871	C	T	51.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.99;QD=25.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13017871;dbSNPBuildID=121;ANN=T|sequence_feature|MODERATE|TXNDC9|TXNDC9|modified-residue:phosphoserine|NM_005783.3|protein_coding|4/4|c.563+117G>A||||||,T|intron_variant|MODIFIER|TXNDC9|TXNDC9|transcript|NM_005783.3|protein_coding|4/4|c.563+117G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2097;p3_1000G_AF=0.41873;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=17395;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.4473;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99938301;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:79,6,0
chr2	99332980	rs563150733	A	C	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.969;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|upstream_gene_variant|MODIFIER|EIF5B|EIF5B|transcript|NM_015904.3|protein_coding||c.-4575A>C|||||4391|,C|intron_variant|MODIFIER|TXNDC9|TXNDC9|transcript|NM_005783.3|protein_coding|2/4|c.189+42T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19475;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99949443;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,11:25:99:277,0,315
chr2	99360101	rs3828162	A	G	146.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3828162;dbSNPBuildID=107;ANN=G|sequence_feature|MODERATE|EIF5B|EIF5B|modified-residue:phosphoserine|NM_015904.3|protein_coding|1/23|c.36-135A>G||||||,G|intron_variant|MODIFIER|EIF5B|EIF5B|transcript|NM_015904.3|protein_coding|1/23|c.36-135A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4206;p3_1000G_AF=0.839856;p3_1000G_AFR_AF=0.7413;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=16443;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99976564;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:174,12,0
chr2	99360699	rs60489297;rs72036435	TAGGAATGTAA	T	323.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.34;SOR=4.407;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs72036435,rs60489297;dbSNPBuildID=132,129;ANN=T|intron_variant|MODIFIER|EIF5B|EIF5B|transcript|NM_015904.3|protein_coding|3/23|c.246+154_246+163delAATGTAAAGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2055;p3_1000G_AF=0.410343;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=18903;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=99977162;p3_1000G_GRCH37_REF=TAGGAATGTAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:361,24,0
chr2	99551667	.	G	C	433.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.561;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.205;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=0.353;SOR=0.208;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|AFF3|AFF3|transcript|NM_001025108.1|protein_coding|23/23|c.3635-72C>G||||||,C|intron_variant|MODIFIER|AFF3|AFF3|transcript|NM_002285.2|protein_coding|23/23|c.3560-72C>G||||||	GT:AD:DP:GQ:PL	0/1:9,17:26:99:462,0,269
chr2	99578335	rs142157056	G	A	1148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.415;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0.956;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=1.73;SOR=0.547;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142157056;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|AFF3|AFF3|transcript|NM_001025108.1|protein_coding|17/24|c.2985C>T|p.Phe995Phe|3129/8120|2985/3756|995/1251||,A|synonymous_variant|LOW|AFF3|AFF3|transcript|NM_002285.2|protein_coding|17/24|c.2910C>T|p.Phe970Phe|3146/8137|2910/3681|970/1226||;p3_1000G_AA=G|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19643;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100194797;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_002285.2:3681,NM_001025108.1:3756;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=159;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002285.2:coding-synonymous,NM_001025108.1:coding-synonymous;ESP6500_GL=AFF3;ESP6500_GRCh38_POSITION=2:99578335;ESP6500_GTC=0,1,6502;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002285.2:c.2910C>T,NM_001025108.1:c.2985C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002285.2:p.(F970),NM_001025108.1:p.(F995);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:25,47:72:99:1177,0,503
chr2	99601618	rs4851214	G	A	314.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.233;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=1.25;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4851214;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|AFF3|AFF3|transcript|NM_001025108.1|protein_coding|13/24|c.1263C>T|p.Ala421Ala|1407/8120|1263/3756|421/1251||,A|synonymous_variant|LOW|AFF3|AFF3|transcript|NM_002285.2|protein_coding|13/24|c.1188C>T|p.Ala396Ala|1424/8137|1188/3681|396/1226||;p3_1000G_AA=G|||;p3_1000G_AC=1201;p3_1000G_AF=0.239816;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=16538;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.2932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100218080;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=247,4131;ESP6500_AA_GTC=8,231,1950;ESP6500_CDS_SIZES=NM_002285.2:3681,NM_001025108.1:3756;ESP6500_CG=-0.9;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=13;ESP6500_EA_AC=2318,6252;ESP6500_EA_GTC=328,1662,2295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002285.2:coding-synonymous,NM_001025108.1:coding-synonymous;ESP6500_GL=AFF3;ESP6500_GRCh38_POSITION=2:99601618;ESP6500_GTC=336,1893,4245;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002285.2:c.1188C>T,NM_001025108.1:c.1263C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002285.2:p.(A396),NM_001025108.1:p.(A421);ESP6500_MAF=27.0478,5.6418,19.81;ESP6500_TAC=2565,10383	GT:AD:DP:GQ:PL	0/1:7,13:20:99:343,0,178
chr2	99837610	rs5832886	C	CT	124.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5832886;dbSNPBuildID=129;ANN=CT|intron_variant|MODIFIER|AFF3|AFF3|transcript|NM_001025108.1|protein_coding|6/23|c.949-87_949-86insA||||||,CT|intron_variant|MODIFIER|AFF3|AFF3|transcript|NM_002285.2|protein_coding|6/23|c.874-87_874-86insA||||||;p3_1000G_AA=|||unknown(LONG_INSERTION);p3_1000G_AC=3202;p3_1000G_AF=0.639377;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=18983;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.7416;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100454072;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8078;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:161,12,0
chr2	100294116	rs4850925	C	T	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.525;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.71;ReadPosRankSum=0.842;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4850925;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|9/11|c.1757+113G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1868;p3_1000G_AF=0.373003;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=20220;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100910578;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,9:11:46:278,0,46
chr2	100299167	rs4851286	T	C	278.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4851286;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|6/11|c.1361+59A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3704;p3_1000G_AF=0.739617;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=17414;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100915629;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:307,27,0
chr2	100299310	rs4851287	A	G	274.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4851287;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|6/12|c.1277T>C|p.Leu426Pro|1917/13912|1277/2265|426/754||;p3_1000G_AA=G|||;p3_1000G_AC=3865;p3_1000G_AF=0.771765;p3_1000G_AFR_AF=0.8903;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=15374;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100915772;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3671,735;ESP6500_AA_AGE=299.3+/-285.7;ESP6500_AA_GTC=1528,615,60;ESP6500_CDS_SIZES=NM_198461.3:2265;ESP6500_CG=4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=77;ESP6500_EA_AC=5539,3061;ESP6500_EA_AGE=465.4+/-366.5;ESP6500_EA_GTC=1793,1953,554;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198461.3:missense;ESP6500_GL=LONRF2;ESP6500_GRCh38_POSITION=2:100299310;ESP6500_GS=98;ESP6500_GTC=3321,2568,614;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198461.3:c.1277T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198461.3:p.(L426P);ESP6500_MAF=35.593,16.6818,29.1865;ESP6500_PH=benign:0.0;ESP6500_TAC=9210,3796	GT:AD:DP:GQ:PL	1/1:0,9:9:27:303,27,0
chr2	100299589	rs2033749	T	C	64.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2033749;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|5/11|c.1267+128A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3866;p3_1000G_AF=0.771965;p3_1000G_AFR_AF=0.8903;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=15449;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100916051;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr2	100299844	rs2033748	A	G	1048.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2033748;dbSNPBuildID=94;ANN=G|synonymous_variant|LOW|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|5/12|c.1140T>C|p.Phe380Phe|1780/13912|1140/2265|380/754||;p3_1000G_AA=A|||;p3_1000G_AC=3863;p3_1000G_AF=0.771366;p3_1000G_AFR_AF=0.8911;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=13826;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.673;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100916306;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3669,737;ESP6500_AA_AGE=757.4+/-412.7;ESP6500_AA_GTC=1525,619,59;ESP6500_CDS_SIZES=NM_198461.3:2265;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=68;ESP6500_EA_AC=5543,3057;ESP6500_EA_AGE=662.6+/-402.0;ESP6500_EA_GTC=1797,1949,554;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198461.3:coding-synonymous;ESP6500_GL=LONRF2;ESP6500_GRCh38_POSITION=2:100299844;ESP6500_GTC=3322,2568,613;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198461.3:c.1140T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198461.3:p.(F380);ESP6500_MAF=35.5465,16.7272,29.1712;ESP6500_TAC=9212,3794	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:84:1|1:100299844_A_G:1077,84,0
chr2	100299853	rs11123823	A	G	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.243;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11123823;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|5/12|c.1131T>C|p.Gly377Gly|1771/13912|1131/2265|377/754||;p3_1000G_AA=A|||;p3_1000G_AC=1456;p3_1000G_AF=0.290735;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=13944;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.4851;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100916315;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=472,3934;ESP6500_AA_AGE=222.6+/-239.4;ESP6500_AA_GTC=26,420,1757;ESP6500_CDS_SIZES=NM_198461.3:2265;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=3989,4611;ESP6500_EA_AGE=555.0+/-386.6;ESP6500_EA_GTC=941,2107,1252;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198461.3:coding-synonymous;ESP6500_GL=LONRF2;ESP6500_GRCh38_POSITION=2:100299853;ESP6500_GTC=967,2527,3009;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198461.3:c.1131T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198461.3:p.(G377);ESP6500_MAF=46.3837,10.7127,34.2996;ESP6500_TAC=4461,8545	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,16:28:99:0|1:100299844_A_G:449,0,267
chr2	100300647	rs13006224	C	T	3887.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=132;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=0.787;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13006224;dbSNPBuildID=121;ANN=T|synonymous_variant|LOW|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|4/12|c.1062G>A|p.Ser354Ser|1702/13912|1062/2265|354/754||;p3_1000G_AA=C|||;p3_1000G_AC=1896;p3_1000G_AF=0.378594;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=16541;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.498;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100917109;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=499,3907;ESP6500_AA_AGE=231.4+/-245.2;ESP6500_AA_GTC=27,445,1731;ESP6500_CDS_SIZES=NM_198461.3:2265;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=124;ESP6500_EA_AC=4167,4433;ESP6500_EA_AGE=568.9+/-389.1;ESP6500_EA_GTC=1031,2105,1164;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198461.3:coding-synonymous;ESP6500_GL=LONRF2;ESP6500_GRCh38_POSITION=2:100300647;ESP6500_GTC=1058,2550,2895;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198461.3:c.1062G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198461.3:p.(S354);ESP6500_MAF=48.4535,11.3255,35.8757;ESP6500_TAC=4666,8340	GT:AD:DP:GQ:PL	1/1:0,132:132:99:3916,396,0
chr2	100308977	rs11693424	G	A	114.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11693424;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|2/11|c.798+130C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2263;p3_1000G_AF=0.451877;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.4726;p3_1000G_AN=5008;p3_1000G_DP=15909;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100925439;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:142,12,0
chr2	100321866	rs74177695	T	C	162.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs74177695;dbSNPBuildID=130;ANN=C|synonymous_variant|LOW|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|1/12|c.228A>G|p.Glu76Glu|868/13912|228/2265|76/754||;p3_1000G_AA=c|||;p3_1000G_AC=2066;p3_1000G_AF=0.41254;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=4493;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100938328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:191,18,0
chr2	100322019	rs74177696	C	G	692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs74177696;dbSNPBuildID=130;ANN=G|missense_variant|MODERATE|LONRF2|LONRF2|transcript|NM_198461.3|protein_coding|1/12|c.75G>C|p.Gln25His|715/13912|75/2265|25/754||;p3_1000G_AA=c|||;p3_1000G_AC=1977;p3_1000G_AF=0.394768;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=5596;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.4861;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=100938481;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:721,66,0
chr2	100393138	rs1530030	G	A	507.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1530030;dbSNPBuildID=88;ANN=A|3_prime_UTR_variant|MODIFIER|CHST10|CHST10|transcript|NM_004854.4|protein_coding|7/7|c.*107C>T|||||107|;p3_1000G_AA=G|||;p3_1000G_AC=1942;p3_1000G_AF=0.38778;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=18699;p3_1000G_EAS_AF=0.7183;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101009600;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:536,45,0
chr2	100393620	rs3748930	G	C	2597.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.395;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748930;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|CHST10|CHST10|transcript|NM_004854.4|protein_coding|7/7|c.696C>G|p.Thr232Thr|1094/2854|696/1071|232/356||;p3_1000G_AA=G|||;p3_1000G_AC=3034;p3_1000G_AF=0.605831;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=18067;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101010082;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2762,1644;ESP6500_AA_AGE=659.5+/-400.6;ESP6500_AA_GTC=862,1038,303;ESP6500_CDS_SIZES=NM_004854.4:1071;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=190;ESP6500_EA_AC=4260,4340;ESP6500_EA_AGE=576.1+/-390.3;ESP6500_EA_GTC=1073,2114,1113;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004854.4:coding-synonymous;ESP6500_GL=CHST10;ESP6500_GRCh38_POSITION=2:100393620;ESP6500_GTC=1935,3152,1416;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004854.4:c.696C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004854.4:p.(T232);ESP6500_MAF=49.5349,37.3128,46.0095;ESP6500_TAC=7022,5984	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2626,249,0
chr2	100395415	rs2241810	T	C	621.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2241810;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|CHST10|CHST10|transcript|NM_004854.4|protein_coding|6/6|c.533+94A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1939;p3_1000G_AF=0.387181;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=16015;p3_1000G_EAS_AF=0.7183;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101011877;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:650,54,0
chr2	100397785	rs4149517	C	A	557.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4149517;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|CHST10|CHST10|transcript|NM_004854.4|protein_coding|5/6|c.427+123G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3269;p3_1000G_AF=0.652756;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=17928;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101014247;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:586,48,0
chr2	100397901	rs2241809	C	T	1153.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2241809;dbSNPBuildID=98;ANN=T|splice_region_variant&intron_variant|LOW|CHST10|CHST10|transcript|NM_004854.4|protein_coding|5/6|c.427+7G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1838;p3_1000G_AF=0.367013;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=17948;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.4871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101014363;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=493,3913;ESP6500_AA_AGE=229.8+/-244.2;ESP6500_AA_GTC=28,437,1738;ESP6500_CDS_SIZES=NM_004854.4:1071;ESP6500_CG=4.7;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=134;ESP6500_EA_AC=4143,4457;ESP6500_EA_AGE=566.9+/-388.7;ESP6500_EA_GTC=1014,2115,1171;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004854.4:intron;ESP6500_GL=CHST10;ESP6500_GRCh38_POSITION=2:100397901;ESP6500_GTC=1042,2552,2909;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004854.4:c.427+7G>A;ESP6500_MAF=48.1744,11.1893,35.6451;ESP6500_TAC=4636,8370	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1182,105,0
chr2	100415099	rs3828193	G	T	937.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.34;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3828193;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|CHST10|CHST10|transcript|NM_004854.4|protein_coding|2/7|c.-91C>A|||||8424|;p3_1000G_AA=G|||;p3_1000G_AC=1817;p3_1000G_AF=0.362819;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=17694;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101031561;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:966,87,0
chr2	100470432	rs13385681	G	A	1038.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.68;SOR=2.368;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13385681;dbSNPBuildID=121;ANN=A|upstream_gene_variant|MODIFIER|NMS|NMS|transcript|NM_001011717.1|protein_coding||c.-57G>A|||||50|,A|intergenic_region|MODIFIER|CHST10-NMS|CHST10-NMS|intergenic_region|CHST10-NMS|||n.100470432G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1356;p3_1000G_AF=0.270767;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=17314;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101086894;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=366,1018;ESP6500_AA_GTC=52,262,378;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=249;ESP6500_EA_AC=667,2515;ESP6500_EA_GTC=76,515,1000;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=2:100470432;ESP6500_GTC=128,777,1378;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=20.9617,26.4451,22.6237;ESP6500_TAC=1033,3533	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1067,105,0
chr2	100470504	rs13411940	C	T	2318.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13411940;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|NMS|NMS|transcript|NM_001011717.1|protein_coding|1/10|c.16C>T|p.Pro6Ser|23/485|16/462|6/153||;p3_1000G_AA=C|||;p3_1000G_AC=1356;p3_1000G_AF=0.270767;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=18141;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.2048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101086966;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1196,3210;ESP6500_AA_AGE=417.6+/-338.0;ESP6500_AA_GTC=164,868,1171;ESP6500_CDS_SIZES=NM_001011717.1:462;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=358;ESP6500_EA_AC=1896,6704;ESP6500_EA_AGE=336.8+/-322.0;ESP6500_EA_GTC=217,1462,2621;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001011717.1:missense;ESP6500_GL=NMS;ESP6500_GRCh38_POSITION=2:100470504;ESP6500_GS=74;ESP6500_GTC=381,2330,3792;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001011717.1:c.16C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001011717.1:p.(P6S);ESP6500_MAF=22.0465,27.1448,23.7736;ESP6500_PH=benign:0.363;ESP6500_TAC=3092,9914	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2347,228,0
chr2	100470642	rs13414632	C	T	1738.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.44;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13414632;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|NMS|NMS|transcript|NM_001011717.1|protein_coding|1/9|c.76+78C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1356;p3_1000G_AF=0.270767;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=17938;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.2048;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101087104;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1767,156,0
chr2	100479271	rs7561811	A	G	528.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.82;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7561811;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NMS|NMS|transcript|NM_001011717.1|protein_coding|5/9|c.262-82A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1911;p3_1000G_AF=0.381589;p3_1000G_AFR_AF=0.5477;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=17848;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101095733;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.363;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:557,45,0
chr2	100480340	rs7565675	A	G	1635.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=1.298;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7565675;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NMS|NMS|transcript|NM_001011717.1|protein_coding|6/9|c.337-156A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1897;p3_1000G_AF=0.378794;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=19091;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101096802;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1664,144,0
chr2	100480372	rs13428749	C	A	2203.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13428749;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|NMS|NMS|transcript|NM_001011717.1|protein_coding|6/9|c.337-124C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1396;p3_1000G_AF=0.278754;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=19256;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101096834;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2232,209,0
chr2	100480398	rs7568519	T	C	2732.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=0.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7568519;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|NMS|NMS|transcript|NM_001011717.1|protein_coding|6/9|c.337-98T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1897;p3_1000G_AF=0.378794;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=19384;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101096860;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2761,240,0
chr2	100480441	rs13393776	T	C	2346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.09;SOR=1.108;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13393776;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|NMS|NMS|transcript|NM_001011717.1|protein_coding|6/9|c.337-55T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1396;p3_1000G_AF=0.278754;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=19381;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.2097;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101096903;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=400,984;ESP6500_AA_GTC=68,264,360;ESP6500_CDS_SIZES=NM_001011717.1:462;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=176;ESP6500_EA_AC=675,2507;ESP6500_EA_GTC=77,521,993;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011717.1:intron;ESP6500_GL=NMS;ESP6500_GRCh38_POSITION=2:100480441;ESP6500_GTC=145,785,1353;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001011717.1:c.337-55T>C;ESP6500_MAF=21.2131,28.9017,23.5436;ESP6500_TAC=1075,3491	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2375,234,0
chr2	100480498	rs1519654	C	T	2034.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1519654;dbSNPBuildID=88;ANN=T|splice_region_variant&synonymous_variant|LOW|NMS|NMS|transcript|NM_001011717.1|protein_coding|7/10|c.339C>T|p.Gly113Gly|346/485|339/462|113/153||;p3_1000G_AA=T|||;p3_1000G_AC=4025;p3_1000G_AF=0.803714;p3_1000G_AFR_AF=0.9183;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=18499;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.5;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101096960;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3751,655;ESP6500_AA_AGE=280.5+/-275.4;ESP6500_AA_GTC=1612,527,64;ESP6500_CDS_SIZES=NM_001011717.1:462;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=118;ESP6500_EA_AC=4226,4374;ESP6500_EA_AGE=583.1+/-391.5;ESP6500_EA_GTC=1049,2128,1123;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011717.1:coding-synonymous;ESP6500_GL=NMS;ESP6500_GRCh38_POSITION=2:100480498;ESP6500_GTC=2661,2655,1187;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001011717.1:c.339C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001011717.1:p.(G113);ESP6500_MAF=49.1395,14.8661,38.6668;ESP6500_TAC=7977,5029	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2063,186,0
chr2	100569626	rs1052117	C	T	3259.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=0.732;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052117;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|PDCL3|PDCL3|transcript|NM_024065.4|protein_coding|4/6|c.273C>T|p.Phe91Phe|385/1075|273/720|91/239||,T|sequence_feature|LOW|PDCL3|PDCL3|miscellaneous-region:Thioredoxin_fold|NM_024065.4|protein_coding|4/6|c.273C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3271;p3_1000G_AF=0.653155;p3_1000G_AFR_AF=0.6286;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=16729;p3_1000G_EAS_AF=0.9772;p3_1000G_EUR_AF=0.4404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101186088;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2674,1732;ESP6500_AA_GTC=807,1060,336;ESP6500_CDS_SIZES=NM_024065.4:720;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=79;ESP6500_EA_AC=3594,5002;ESP6500_EA_GTC=758,2078,1462;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024065.4:coding-synonymous;ESP6500_GL=PDCL3;ESP6500_GRCh38_POSITION=2:100569626;ESP6500_GTC=1565,3138,1798;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024065.4:c.273C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024065.4:p.(F91);ESP6500_MAF=41.8101,39.31,48.208;ESP6500_TAC=6268,6734	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3288,312,0
chr2	100571911	rs138885839	C	CCTGTGTATGAGTGA	1350.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=2.91;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs138885839;dbSNPBuildID=134;ANN=CCTGTGTATGAGTGA|intron_variant|MODIFIER|PDCL3|PDCL3|transcript|NM_024065.4|protein_coding|5/5|c.577+124_577+125insTGACTGTGTATGAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3234;p3_1000G_AF=0.645767;p3_1000G_AFR_AF=0.6271;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=19061;p3_1000G_EAS_AF=0.9772;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101188373;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,27:27:95:1388,95,0
chr2	100904510	rs5832941	A	AT	811.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=3.16;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5832941;dbSNPBuildID=130;ANN=AT|intron_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|1/20|c.-22-223_-22-222insT||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=4115;p3_1000G_AF=0.821685;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=18426;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101520972;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,21:21:63:849,63,0
chr2	100904711	rs549070561;rs753819629;rs763544400;rs879062230	AT	A	313.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.841;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.559;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=1.65;SOR=1.447;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3042779;dbSNPBuildID=144,147,144,142;ANN=A|splice_region_variant&intron_variant|LOW|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|1/20|c.-22-5delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:1,13:14:99:351,106,132
chr2	100904711	.	AT	ATT	313.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.841;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.559;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=1.65;SOR=1.447;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3042779;ANN=ATT|splice_region_variant&intron_variant|LOW|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|1/20|c.-22-5dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,6:7:99:351,277,384
chr2	100925336	rs356651	C	T	928.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=1.839;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs356651;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|3/20|c.181+42C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4572;p3_1000G_AF=0.912939;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=19731;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.828;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101541798;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3985,421;ESP6500_AA_AGE=204.1+/-226.4;ESP6500_AA_GTC=1798,389,16;ESP6500_CDS_SIZES=NM_002518.3:2475;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=42;ESP6500_EA_AC=7081,1519;ESP6500_EA_AGE=281.0+/-294.8;ESP6500_EA_GTC=2927,1227,146;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002518.3:intron;ESP6500_GL=NPAS2;ESP6500_GRCh38_POSITION=2:100925336;ESP6500_GTC=4725,1616,162;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002518.3:c.181+42C>T;ESP6500_MAF=17.6628,9.5552,14.9162;ESP6500_TAC=11066,1940	GT:AD:DP:GQ:PL	1/1:0,31:31:93:957,93,0
chr2	100948166	rs10207725	A	G	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.75;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.132;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10207725;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|5/20|c.364-69A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2219;p3_1000G_AF=0.443091;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=19990;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.4682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101564628;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,7:19:99:171,0,328
chr2	100949608	rs3739005	C	T	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.423;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=6.56;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.736;SOR=0.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739005;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|7/20|c.598+128C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2610;p3_1000G_AF=0.521166;p3_1000G_AFR_AF=0.4402;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=20020;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.5199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101566070;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,9:14:99:239,0,140
chr2	100964784	rs7581886	C	T	705.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.08;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7581886;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|8/20|c.718-77C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4793;p3_1000G_AF=0.957069;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=17293;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101581246;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:734,66,0
chr2	100965514	rs4851392	A	G	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.83;ReadPosRankSum=0.712;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4851392;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|9/20|c.801-146A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4369;p3_1000G_AF=0.872404;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=17777;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101581976;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:55:55,0,128
chr2	100970993	rs1562313	C	T	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.291;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=0.532;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1562313;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|12/21|c.1059C>T|p.Tyr353Tyr|1345/4004|1059/2475|353/824||,T|downstream_gene_variant|MODIFIER|LOC101927142|LOC101927142|transcript|NR_110213.1|pseudogene||n.*1655G>A|||||1655|;p3_1000G_AA=C|||;p3_1000G_AC=1185;p3_1000G_AF=0.236621;p3_1000G_AFR_AF=0.3033;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=16076;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101587455;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1190,3216;ESP6500_AA_AGE=417.6+/-338.0;ESP6500_AA_GTC=152,886,1165;ESP6500_CDS_SIZES=NM_002518.3:2475;ESP6500_CG=-8.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=89;ESP6500_EA_AC=1787,6813;ESP6500_EA_AGE=321.3+/-315.0;ESP6500_EA_GTC=184,1419,2697;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002518.3:coding-synonymous;ESP6500_GL=NPAS2;ESP6500_GRCh38_POSITION=2:100970993;ESP6500_GTC=336,2305,3862;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002518.3:c.1059C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002518.3:p.(Y353);ESP6500_MAF=20.7791,27.0086,22.8894;ESP6500_TAC=2977,10029	GT:AD:DP:GQ:PL	0/1:18,14:32:99:291,0,469
chr2	100974842	rs2305160	A	G	689.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.705;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.548;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.302;SOR=0.364;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305160;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|13/21|c.1180A>G|p.Thr394Ala|1466/4004|1180/2475|394/824||,G|intron_variant|MODIFIER|LOC101927142|LOC101927142|transcript|NR_110213.1|pseudogene|2/2|n.575+443T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3997;p3_1000G_AF=0.798123;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=19210;p3_1000G_EAS_AF=0.8552;p3_1000G_EUR_AF=0.67;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101591304;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3934,472;ESP6500_AA_AGE=223.3+/-239.8;ESP6500_AA_GTC=1752,430,21;ESP6500_CDS_SIZES=NM_002518.3:2475;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=5788,2812;ESP6500_EA_AGE=444.6+/-360.7;ESP6500_EA_GTC=1938,1912,450;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002518.3:missense;ESP6500_GL=NPAS2;ESP6500_GRCh38_POSITION=2:100974842;ESP6500_GS=58;ESP6500_GTC=3690,2342,471;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002518.3:c.1180A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002518.3:p.(T394A);ESP6500_MAF=32.6977,10.7127,25.2499;ESP6500_PH=benign:0.001;ESP6500_TAC=9722,3284	GT:AD:DP:GQ:PL	0/1:32,29:61:99:718,0,806
chr2	100974981	rs2305159	A	C	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.88;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305159;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|13/20|c.1282+37A>C||||||,C|intron_variant|MODIFIER|LOC101927142|LOC101927142|transcript|NR_110213.1|pseudogene|2/2|n.575+304T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2730;p3_1000G_AF=0.545128;p3_1000G_AFR_AF=0.6059;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=19929;p3_1000G_EAS_AF=0.7946;p3_1000G_EUR_AF=0.3151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101591443;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2351,2055;ESP6500_AA_AGE=560.5+/-380.5;ESP6500_AA_GTC=622,1107,474;ESP6500_CDS_SIZES=NM_002518.3:2475;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=2450,6150;ESP6500_EA_AGE=691.2+/-404.5;ESP6500_EA_GTC=378,1694,2228;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002518.3:intron;ESP6500_GL=NPAS2;ESP6500_GRCh38_POSITION=2:100974981;ESP6500_GTC=1000,2801,2702;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002518.3:c.1282+37A>C;ESP6500_MAF=28.4884,46.6409,36.9137;ESP6500_TAC=4801,8205	GT:AD:DP:GQ:PL	0/1:21,13:34:99:345,0,596
chr2	100982215	rs2278727	C	T	604.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.045;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.85;SOR=0.55;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278727;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|15/20|c.1483-16C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1356;p3_1000G_AF=0.270767;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=21723;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101598677;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=942,3464;ESP6500_AA_AGE=353.8+/-312.3;ESP6500_AA_GTC=97,748,1358;ESP6500_CDS_SIZES=NM_002518.3:2475;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=2228,6372;ESP6500_EA_AGE=373.2+/-336.9;ESP6500_EA_GTC=303,1622,2375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002518.3:intron;ESP6500_GL=NPAS2;ESP6500_GRCh38_POSITION=2:100982215;ESP6500_GTC=400,2370,3733;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002518.3:c.1483-16C>T;ESP6500_MAF=25.907,21.3799,24.3734;ESP6500_TAC=3170,9836	GT:AD:DP:GQ:PL	0/1:37,27:64:99:633,0,941
chr2	100993365	rs9223	C	T	855.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.381;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.03;SOR=0.68;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9223;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|20/21|c.2130C>T|p.Thr710Thr|2416/4004|2130/2475|710/824||;p3_1000G_AA=C|||;p3_1000G_AC=1266;p3_1000G_AF=0.252796;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=16211;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.3002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101609827;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=535,3871;ESP6500_AA_AGE=241.2+/-251.7;ESP6500_AA_GTC=38,459,1706;ESP6500_CDS_SIZES=NM_002518.3:2475;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=57;ESP6500_EA_AC=2670,5930;ESP6500_EA_AGE=427.9+/-355.7;ESP6500_EA_GTC=433,1804,2063;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002518.3:coding-synonymous;ESP6500_GL=NPAS2;ESP6500_GRCh38_POSITION=2:100993365;ESP6500_GTC=471,2263,3769;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002518.3:c.2130C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002518.3:p.(T710);ESP6500_MAF=31.0465,12.1425,24.6425;ESP6500_TAC=3205,9801	GT:AD:DP:GQ:PL	0/1:29,37:66:99:884,0,698
chr2	100995589	rs2305158	G	A	989.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=0.789;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.522;SOR=0.59;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305158;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|NPAS2|NPAS2|transcript|NM_002518.3|protein_coding|21/21|c.*7G>A|||||7|;p3_1000G_AA=G|||;p3_1000G_AC=876;p3_1000G_AF=0.17492;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=14287;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.2565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101612051;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=884,3520;ESP6500_AA_AGE=315.5+/-294.2;ESP6500_AA_GTC=91,702,1409;ESP6500_CDS_SIZES=NM_002518.3:2475;ESP6500_CG=2.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=19;ESP6500_EA_AC=1950,6650;ESP6500_EA_AGE=317.1+/-313.1;ESP6500_EA_GTC=204,1542,2554;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002518.3:utr-3;ESP6500_GL=NPAS2;ESP6500_GRCh38_POSITION=2:100995589;ESP6500_GTC=295,2244,3963;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002518.3:c.*7G>A;ESP6500_MAF=22.6744,20.0727,21.7933;ESP6500_TAC=2834,10170	GT:AD:DP:GQ:PL	0/1:53,38:91:99:1018,0,1313
chr2	101002821	rs2278724	C	G	4399.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=135;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=0.754;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278724;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding||c.*5000G>C|||||4407|,G|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|2/4|c.107+13C>G||||||,G|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_000993.4|protein_coding|2/4|c.107+13C>G||||||,G|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001099693.1|protein_coding|2/3|c.107+13C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4155;p3_1000G_AF=0.829673;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=19378;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101619283;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4159,247;ESP6500_AA_AGE=140.0+/-175.5;ESP6500_AA_GTC=1963,233,7;ESP6500_CDS_SIZES=NM_001099693.1:366,NM_001098577.2:387,NM_000993.4:378;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=7008,1592;ESP6500_EA_AGE=283.3+/-296.1;ESP6500_EA_GTC=2857,1294,149;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001099693.1:intron,NM_001098577.2:intron,NM_000993.4:intron;ESP6500_GL=RPL31;ESP6500_GRCh38_POSITION=2:101002821;ESP6500_GTC=4820,1527,156;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001099693.1:c.107+13C>G,NM_001098577.2:c.107+13C>G,NM_000993.4:c.107+13C>G;ESP6500_MAF=18.5116,5.606,14.1396;ESP6500_TAC=11167,1839	GT:AD:DP:GQ:PL	1/1:0,134:134:99:4428,402,0
chr2	101002859	rs2278723	T	C	4443.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=136;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=0.917;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278723;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding||c.*4962A>G|||||4369|,C|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|2/4|c.107+51T>C||||||,C|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_000993.4|protein_coding|2/4|c.107+51T>C||||||,C|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001099693.1|protein_coding|2/3|c.107+51T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2688;p3_1000G_AF=0.536741;p3_1000G_AFR_AF=0.5227;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=19228;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101619321;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2509,1897;ESP6500_AA_GTC=722,1065,416;ESP6500_CDS_SIZES=NM_001099693.1:366,NM_001098577.2:387,NM_000993.4:378;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=5772,2828;ESP6500_EA_GTC=1951,1870,479;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001099693.1:intron,NM_001098577.2:intron,NM_000993.4:intron;ESP6500_GL=RPL31;ESP6500_GRCh38_POSITION=2:101002859;ESP6500_GTC=2673,2935,895;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001099693.1:c.107+51T>C,NM_001098577.2:c.107+51T>C,NM_000993.4:c.107+51T>C;ESP6500_MAF=32.8837,43.0549,36.3294;ESP6500_TAC=8281,4725	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4472,408,0
chr2	101004394	rs34386800;rs397985322	TA	T	169.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.247;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.473;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-1.144;SOR=1.659;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34386800;dbSNPBuildID=126,138;ANN=T|downstream_gene_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding||c.*3426delT|||||2833|,T|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|3/4|c.233+123delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_000993.4|protein_coding|3/4|c.233+123delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001099693.1|protein_coding|3/3|c.233+123delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1410;p3_1000G_AF=0.28155;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=17966;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101620856;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2331;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,9:18:99:207,0,183
chr2	101006234	rs34763346;rs397743925	T	TG	251.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=3.867;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=1.33;SOR=0.183;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34763346;dbSNPBuildID=126,138;ANN=TG|3_prime_UTR_variant|MODIFIER|RPL31|RPL31|transcript|NM_001099693.1|protein_coding|4/4|c.*146dupG|||||147|INFO_REALIGN_3_PRIME,TG|downstream_gene_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding||c.*1586dupC|||||993|,TG|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|4/4|c.346+166dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_000993.4|protein_coding|4/4|c.347-113dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GGG|GGGG|insertion;p3_1000G_AC=771;p3_1000G_AF=0.153954;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.122;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101622696;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:16,11:27:99:289,0,470
chr2	101006266	rs10934	C	T	540.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.486;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=9.966;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.03;ReadPosRankSum=-2.085;SOR=2.122;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10934;dbSNPBuildID=52;ANN=T|3_prime_UTR_variant|MODIFIER|RPL31|RPL31|transcript|NM_001099693.1|protein_coding|4/4|c.*175C>T|||||175|,T|downstream_gene_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding||c.*1555G>A|||||962|,T|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|4/4|c.346+195C>T||||||,T|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_000993.4|protein_coding|4/4|c.347-84C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1182;p3_1000G_AF=0.236022;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=19189;p3_1000G_EAS_AF=0.1667;p3_1000G_EUR_AF=0.2922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101622728;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=156,1228;ESP6500_AA_GTC=9,138,545;ESP6500_CDS_SIZES=NM_001099693.1:366,NM_001098577.2:387,NM_000993.4:378;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=204;ESP6500_EA_AC=950,2232;ESP6500_EA_GTC=144,662,785;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001099693.1:utr-3,NM_001098577.2:intron,NM_000993.4:intron;ESP6500_GL=RPL31;ESP6500_GRCh38_POSITION=2:101006266;ESP6500_GTC=153,800,1330;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001099693.1:c.*175C>T,NM_001098577.2:c.346+195C>T,NM_000993.4:c.347-84C>T;ESP6500_MAF=29.8554,11.2717,24.2225;ESP6500_TAC=1106,3460	GT:AD:DP:GQ:PL	0/1:10,17:27:99:569,0,313
chr2	101008009	rs746924	T	C	2221.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=0.849;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs746924;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|20/20|c.3235A>G|p.Arg1079Gly|3366/4147|3235/3423|1079/1140||,C|downstream_gene_variant|MODIFIER|RPL31|RPL31|transcript|NM_000993.4|protein_coding||c.*1628T>C|||||1586|,C|downstream_gene_variant|MODIFIER|RPL31|RPL31|transcript|NM_001099693.1|protein_coding||c.*1918T>C|||||1586|,C|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|4/4|c.346+1938T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2576;p3_1000G_AF=0.514377;p3_1000G_AFR_AF=0.4667;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=17486;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.6819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101624471;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1975,1833;ESP6500_AA_GTC=514,947,443;ESP6500_CDS_SIZES=NM_001102426.1:3423,NM_001098577.2:387;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=60;ESP6500_EA_AC=5494,2728;ESP6500_EA_GTC=1844,1806,461;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001102426.1:missense,NM_001098577.2:intron;ESP6500_GL=RPL31,TBC1D8;ESP6500_GRCh38_POSITION=2:101008009;ESP6500_GS=125,.;ESP6500_GTC=2358,2753,904;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001102426.1:c.3235A>G,NM_001098577.2:c.346+1938T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001102426.1:p.(R1079G),.;ESP6500_MAF=33.1793,48.1355,37.9135;ESP6500_PH=benign:0.0,.;ESP6500_TAC=7469,4561	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2250,201,0
chr2	101010881	rs35511736;rs398042542	CA	C	142.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.667;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.181;SOR=1.473;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35511736;dbSNPBuildID=126,138;ANN=C|downstream_gene_variant|MODIFIER|RPL31|RPL31|transcript|NM_000993.4|protein_coding||c.*4501delA|||||4459|,C|downstream_gene_variant|MODIFIER|RPL31|RPL31|transcript|NM_001099693.1|protein_coding||c.*4791delA|||||4459|,C|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|4/4|c.346+4826delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|19/19|c.2970+47delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1871;p3_1000G_AF=0.373602;p3_1000G_AFR_AF=0.3994;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=17623;p3_1000G_EAS_AF=0.2827;p3_1000G_EUR_AF=0.3767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101627343;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,9:17:99:180,0,154
chr2	101011390	rs1062059	C	T	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.279;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-0.38;SOR=0.877;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1062059;dbSNPBuildID=86;ANN=T|downstream_gene_variant|MODIFIER|RPL31|RPL31|transcript|NM_000993.4|protein_coding||c.*5009C>T|||||4967|,T|downstream_gene_variant|MODIFIER|RPL31|RPL31|transcript|NM_001099693.1|protein_coding||c.*5299C>T|||||4967|,T|intron_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|4/4|c.346+5319C>T||||||,T|intron_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|18/19|c.2872+61G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=769;p3_1000G_AF=0.153554;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=14256;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101627852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:234,0,320
chr2	101019076	rs13007048	C	T	247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.65;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.745;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13007048;dbSNPBuildID=121;ANN=T|3_prime_UTR_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding|5/5|c.*38C>T|||||38|,T|intron_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|17/19|c.2782+2605G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1152;p3_1000G_AF=0.230032;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=17339;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.2913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101635538;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=350,3574;ESP6500_AA_GTC=19,312,1631;ESP6500_CDS_SIZES=NM_001102426.1:3423,NM_001098577.2:387;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=47;ESP6500_EA_AC=2465,5837;ESP6500_EA_GTC=383,1699,2069;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001102426.1:intron,NM_001098577.2:utr-3;ESP6500_GL=RPL31,TBC1D8;ESP6500_GRCh38_POSITION=2:101019076;ESP6500_GTC=402,2011,3700;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001102426.1:c.2782+2605G>A,NM_001098577.2:c.*38C>T;ESP6500_MAF=29.6916,8.9195,23.0247;ESP6500_TAC=2815,9411	GT:AD:DP:GQ:PL	0/1:10,10:20:99:276,0,296
chr2	101022426	rs3739014	A	G	2799.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3739014;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|16/20|c.2571T>C|p.Asp857Asp|2702/4147|2571/3423|857/1140||,G|downstream_gene_variant|MODIFIER|RPL31|RPL31|transcript|NM_001098577.2|protein_coding||c.*3388A>G|||||2733|;p3_1000G_AA=G|||;p3_1000G_AC=2639;p3_1000G_AF=0.526957;p3_1000G_AFR_AF=0.5227;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=18012;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.6829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101638888;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2317,1707;ESP6500_AA_GTC=683,951,378;ESP6500_CDS_SIZES=NM_001102426.1:3423;ESP6500_CG=-4.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=43;ESP6500_EA_AC=5590,2764;ESP6500_EA_GTC=1883,1824,470;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001102426.1:coding-synonymous;ESP6500_GL=TBC1D8;ESP6500_GRCh38_POSITION=2:101022426;ESP6500_GTC=2566,2775,848;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001102426.1:c.2571T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001102426.1:p.(D857);ESP6500_MAF=33.0859,42.4205,36.1205;ESP6500_TAC=7907,4471	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2828,249,0
chr2	101028393	rs11683877	G	A	561.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.091;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-2.445;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11683877;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|13/20|c.2217C>T|p.Pro739Pro|2348/4147|2217/3423|739/1140||;p3_1000G_AA=G|||;p3_1000G_AC=1078;p3_1000G_AF=0.215256;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=13355;p3_1000G_EAS_AF=0.1667;p3_1000G_EUR_AF=0.2744;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101644855;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=302,3652;ESP6500_AA_GTC=13,276,1688;ESP6500_CDS_SIZES=NM_001102426.1:3423;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=82;ESP6500_EA_AC=2398,5900;ESP6500_EA_GTC=358,1682,2109;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001102426.1:coding-synonymous;ESP6500_GL=TBC1D8;ESP6500_GRCh38_POSITION=2:101028393;ESP6500_GTC=371,1958,3797;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001102426.1:c.2217C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001102426.1:p.(P739);ESP6500_MAF=28.8985,7.6378,22.0372;ESP6500_TAC=2700,9552	GT:AD:DP:GQ:PL	0/1:22,22:44:99:590,0,552
chr2	101029682	rs3739015	G	A	1013.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.56;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0.847;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.63;SOR=0.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739015;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|12/20|c.1986C>T|p.Ser662Ser|2117/4147|1986/3423|662/1140||;p3_1000G_AA=G|||;p3_1000G_AC=811;p3_1000G_AF=0.161941;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=19843;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.2714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101646144;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=492,3710;ESP6500_AA_GTC=33,426,1642;ESP6500_CDS_SIZES=NM_001102426.1:3423;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=92;ESP6500_EA_AC=1902,6570;ESP6500_EA_GTC=187,1528,2521;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001102426.1:coding-synonymous;ESP6500_GL=TBC1D8;ESP6500_GRCh38_POSITION=2:101029682;ESP6500_GTC=220,1954,4163;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001102426.1:c.1986C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001102426.1:p.(S662);ESP6500_MAF=22.4504,11.7087,18.8891;ESP6500_TAC=2394,10280	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1042,0,856
chr2	101036270	rs4850957	C	T	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.548;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.661;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4850957;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|8/19|c.1408-102G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1118;p3_1000G_AF=0.223243;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=14573;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101652732;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:275,0,241
chr2	101040264	rs2289953	T	C	1509.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.55;SOR=0.829;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289953;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|6/20|c.949A>G|p.Thr317Ala|1080/4147|949/3423|317/1140||;p3_1000G_AA=C|||;p3_1000G_AC=2432;p3_1000G_AF=0.485623;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=17328;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.6819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101656726;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1753,2329;ESP6500_AA_GTC=379,995,667;ESP6500_CDS_SIZES=NM_001102426.1:3423;ESP6500_CG=4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=5549,2813;ESP6500_EA_GTC=1860,1829,492;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001102426.1:missense;ESP6500_GL=TBC1D8;ESP6500_GRCh38_POSITION=2:101040264;ESP6500_GS=58;ESP6500_GTC=2239,2824,1159;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001102426.1:c.949A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001102426.1:p.(T317A);ESP6500_MAF=33.6403,42.9446,41.3211;ESP6500_PH=benign:0.0;ESP6500_TAC=7302,5142	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1538,135,0
chr2	101059346	rs7572457	A	G	537.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.92;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-1.939;SOR=0.195;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7572457;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TBC1D8|TBC1D8|transcript|NM_001102426.1|protein_coding|3/19|c.357+75T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1359;p3_1000G_AF=0.271366;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=18513;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.3151;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101675808;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,17:32:99:566,0,418
chr2	101281760	rs1192794	G	A	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.572;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.143;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1192794;dbSNPBuildID=87;ANN=A|intron_variant|MODIFIER|RNF149|RNF149|transcript|NM_173647.3|protein_coding|6/6|c.1159+99C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=809;p3_1000G_AF=0.161542;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=18491;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101898222;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:137,0,260
chr2	101281799	rs1050438569	C	T	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.397;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.958;SOR=1.347;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|intron_variant|MODIFIER|RNF149|RNF149|transcript|NM_173647.3|protein_coding|6/6|c.1159+60G>A||||||	GT:AD:DP:GQ:PL	0/1:9,9:18:99:285,0,253
chr2	101281950	rs13151	G	C	1268.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=1.04;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13151;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|RNF149|RNF149|transcript|NM_173647.3|protein_coding|6/7|c.1068C>G|p.Asp356Glu|1196/2968|1068/1203|356/400||;p3_1000G_AA=C|||;p3_1000G_AC=4237;p3_1000G_AF=0.846046;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=18531;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101898412;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3033,1373;ESP6500_AA_AGE=455.1+/-350.9;ESP6500_AA_GTC=1042,949,212;ESP6500_CDS_SIZES=NM_173647.3:1203;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=155;ESP6500_EA_AC=7454,1146;ESP6500_EA_AGE=235.4+/-268.0;ESP6500_EA_GTC=3228,998,74;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173647.3:missense;ESP6500_GL=RNF149;ESP6500_GRCh38_POSITION=2:101281950;ESP6500_GS=45;ESP6500_GTC=4270,1947,286;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_173647.3:c.1068C>G;ESP6500_HGVS_PROTEIN_VAR=NM_173647.3:p.(D356E);ESP6500_MAF=13.3256,31.1621,19.368;ESP6500_PH=benign:0.0;ESP6500_TAC=10487,2519	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1297,114,0
chr2	101308187	rs138453807	G	A	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.79;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.333;SOR=1.545;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138453807;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|RNF149|RNF149|transcript|NM_173647.3|protein_coding|1/7|c.402C>T|p.Ala134Ala|530/2968|402/1203|134/400||,A|upstream_gene_variant|MODIFIER|MIR5696|MIR5696|transcript|NR_049881.1|pseudogene||n.-1263G>A|||||1263|;ESP6500_AA=G;ESP6500_AA_AC=3,4375;ESP6500_AA_GTC=0,3,2186;ESP6500_CDS_SIZES=NM_173647.3:1203;ESP6500_CG=-4.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=18;ESP6500_EA_AC=0,8560;ESP6500_EA_GTC=0,0,4280;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173647.3:coding-synonymous;ESP6500_GL=RNF149;ESP6500_GRCh38_POSITION=2:101308187;ESP6500_GTC=0,3,6466;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173647.3:c.402C>T;ESP6500_HGVS_PROTEIN_VAR=NM_173647.3:p.(A134);ESP6500_MAF=0.0,0.0685,0.0232;ESP6500_TAC=3,12935	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,15:31:99:1|0:101308184_G_A:403,0,477
chr2	101308564	rs11123868	T	C	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.658;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=0.182;SOR=0.632;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11123868;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|RNF149|RNF149|transcript|NM_173647.3|protein_coding|1/7|c.25A>G|p.Ser9Gly|153/2968|25/1203|9/400||,C|upstream_gene_variant|MODIFIER|MIR5696|MIR5696|transcript|NR_049881.1|pseudogene||n.-886T>C|||||886|;p3_1000G_AA=C|||;p3_1000G_AC=2397;p3_1000G_AF=0.478634;p3_1000G_AFR_AF=0.7678;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=13525;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.3917;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101925026;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1794,1350;ESP6500_AA_GTC=547,700,325;ESP6500_CDS_SIZES=NM_173647.3:1203;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=5;ESP6500_EA_AC=2382,4344;ESP6500_EA_GTC=496,1390,1477;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173647.3:missense;ESP6500_GL=RNF149;ESP6500_GRCh38_POSITION=2:101308564;ESP6500_GS=56;ESP6500_GTC=1043,2090,1802;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173647.3:c.25A>G;ESP6500_HGVS_PROTEIN_VAR=NM_173647.3:p.(S9G);ESP6500_MAF=35.4148,42.9389,42.31;ESP6500_PH=benign:0.0;ESP6500_TAC=4176,5694	GT:AD:DP:GQ:PL	0/1:30,15:45:99:310,0,753
chr2	101350884	rs6543032	C	T	1598.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.35;SOR=1.702;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6543032;dbSNPBuildID=116;ANN=T|3_prime_UTR_variant|MODIFIER|CREG2|CREG2|transcript|NM_153836.3|protein_coding|4/4|c.*39G>A|||||39|;p3_1000G_AA=C|||;p3_1000G_AC=3336;p3_1000G_AF=0.666134;p3_1000G_AFR_AF=0.3941;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=19410;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.8082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101967346;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7904;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1939,2467;ESP6500_AA_AGE=546.7+/-377.1;ESP6500_AA_GTC=435,1069,699;ESP6500_CDS_SIZES=NM_153836.3:873;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=90;ESP6500_EA_AC=6670,1930;ESP6500_EA_AGE=721.0+/-406.3;ESP6500_EA_GTC=2580,1510,210;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153836.3:utr-3;ESP6500_GL=CREG2;ESP6500_GRCh38_POSITION=2:101350884;ESP6500_GTC=3015,2579,909;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153836.3:c.*39G>A;ESP6500_MAF=22.4419,44.0082,33.8075;ESP6500_TAC=8609,4397	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1627,153,0
chr2	101355156	rs6753727	T	C	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=1.01;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6753727;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CREG2|CREG2|transcript|NM_153836.3|protein_coding|3/3|c.725+97A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2260;p3_1000G_AF=0.451278;p3_1000G_AFR_AF=0.3177;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=21090;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.4841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=101971618;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:159,0,382
chr2	101383748	rs11694978	G	A	253.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.893;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.718;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11694978;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CREG2|CREG2|transcript|NM_153836.3|protein_coding|1/3|c.442-46C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1054;p3_1000G_AF=0.210463;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=19855;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102000210;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3538;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=536,3870;ESP6500_AA_AGE=242.8+/-252.7;ESP6500_AA_GTC=41,454,1708;ESP6500_CDS_SIZES=NM_153836.3:873;ESP6500_CG=4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=2621,5979;ESP6500_EA_AGE=422.7+/-354.1;ESP6500_EA_GTC=380,1861,2059;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153836.3:intron;ESP6500_GL=CREG2;ESP6500_GRCh38_POSITION=2:101383748;ESP6500_GTC=421,2315,3767;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153836.3:c.442-46C>T;ESP6500_MAF=30.4767,12.1652,24.2734;ESP6500_TAC=3157,9849	GT:AD:DP:GQ:PL	0/1:12,10:22:99:282,0,410
chr2	101387500	rs116287156	T	C	188.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.4;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs116287156;dbSNPBuildID=132;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CREG2|CREG2|transcript|NM_153836.3|protein_coding|1/4|c.-43A>G||||||,C|5_prime_UTR_variant|MODIFIER|CREG2|CREG2|transcript|NM_153836.3|protein_coding|1/4|c.-43A>G|||||43|;p3_1000G_AA=t|||;p3_1000G_AC=749;p3_1000G_AF=0.149561;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=7405;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102003962;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:217,15,0
chr2	101402416	rs11123876	G	A	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.046;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.175;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11123876;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|11/11|c.1245+20C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1441;p3_1000G_AF=0.28774;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=20531;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.2913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102018878;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,17:36:99:528,0,584
chr2	101402446	rs2175968	A	G	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.205;SOR=1.089;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2175968;dbSNPBuildID=96;ANN=G|missense_variant|MODERATE|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|11/12|c.1235T>C|p.Met412Thr|1355/1729|1235/1422|412/473||;p3_1000G_AA=g|||;p3_1000G_AC=2266;p3_1000G_AF=0.452476;p3_1000G_AFR_AF=0.4569;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=18997;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102018908;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=647,737;ESP6500_AA_GTC=156,335,201;ESP6500_CDS_SIZES=NM_001145664.1:1422;ESP6500_CG=3.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=34;ESP6500_EA_AC=1692,1490;ESP6500_EA_GTC=458,776,357;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001145664.1:missense;ESP6500_GL=RFX8;ESP6500_GRCh38_POSITION=2:101402446;ESP6500_GS=81;ESP6500_GTC=614,1111,558;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001145664.1:c.1235T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001145664.1:p.(M412T);ESP6500_MAF=46.8259,46.7486,48.7735;ESP6500_PH=benign:0.0;ESP6500_TAC=2339,2227	GT:AD:DP:GQ:PL	0/1:25,24:49:99:644,0,647
chr2	101414714	rs4851434	A	G	708.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4851434;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|7/11|c.561+140T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=4697;p3_1000G_AF=0.937899;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=15196;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102031176;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:737,57,0
chr2	101415027	rs4851435	C	G	825.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4851435;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|6/11|c.503-115G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=3041;p3_1000G_AF=0.607228;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=16884;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.8171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102031489;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8108;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:854,69,0
chr2	101418730	rs6709913	C	T	255.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6709913;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|5/11|c.351+121G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3549;p3_1000G_AF=0.708666;p3_1000G_AFR_AF=0.4516;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=18733;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.8459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102035192;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:284,24,0
chr2	101422387	rs4851436	T	A	897.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4851436;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|3/12|c.158A>T|p.Gln53Leu|278/1729|158/1422|53/473||;p3_1000G_AA=A|||;p3_1000G_AC=4517;p3_1000G_AF=0.901957;p3_1000G_AFR_AF=0.8222;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=19860;p3_1000G_EAS_AF=0.8819;p3_1000G_EUR_AF=0.9891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102038849;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1164,220;ESP6500_AA_GTC=493,178,21;ESP6500_CDS_SIZES=NM_001145664.1:1422;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=159;ESP6500_EA_AC=3163,19;ESP6500_EA_GTC=1572,19,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001145664.1:missense;ESP6500_GL=RFX8;ESP6500_GRCh38_POSITION=2:101422387;ESP6500_GS=113;ESP6500_GTC=2065,197,21;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001145664.1:c.158A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001145664.1:p.(Q53L);ESP6500_MAF=0.5971,15.896,5.2343;ESP6500_PH=benign:0.0;ESP6500_TAC=4327,239	GT:AD:DP:GQ:PL	1/1:0,32:32:96:926,96,0
chr2	101428866	rs6543047	C	T	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.217;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.478;SOR=1.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6543047;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|2/11|c.73-6394G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2044;p3_1000G_AF=0.408147;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=19660;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102045328;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,14:34:99:395,0,554
chr2	101450621	rs7585228	T	C	1408.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=1.259;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7585228;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|2/11|c.72+16156A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3486;p3_1000G_AF=0.696086;p3_1000G_AFR_AF=0.6241;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=20241;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.8469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102067083;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1437,126,0
chr2	101452410	rs4851449	T	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.192;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-0.168;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4851449;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|2/11|c.72+14367A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1673;p3_1000G_AF=0.334065;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=12716;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.333;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102068872;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,8:16:99:0|1:101452410_T_A:150,0,220
chr2	101466721	rs4851455	T	C	580.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=4.346;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.117;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4851455;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|2/11|c.72+56A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2623;p3_1000G_AF=0.523762;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=22552;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.6431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102083183;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=571,813;ESP6500_AA_GTC=127,317,248;ESP6500_CDS_SIZES=NM_001145664.1:1422;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=105;ESP6500_EA_AC=2021,1161;ESP6500_EA_GTC=632,757,202;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145664.1:intron;ESP6500_GL=RFX8;ESP6500_GRCh38_POSITION=2:101466721;ESP6500_GTC=759,1074,450;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001145664.1:c.72+56A>G;ESP6500_MAF=36.4865,41.2572,43.2326;ESP6500_TAC=2592,1974	GT:AD:DP:GQ:PL	0/1:30,22:52:99:609,0,785
chr2	101466931	rs11680478	T	C	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.13;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11680478;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|RFX8|RFX8|transcript|NM_001145664.1|protein_coding|1/11|c.-52-31A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1222;p3_1000G_AF=0.24401;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=20808;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102083393;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,10:24:99:350,0,501
chr2	101698595	rs1567385	A	G	848.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.95;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1567385;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_145686.3|protein_coding|2/30|c.123+57A>G||||||,G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_001242560.1|protein_coding|2/30|c.123+57A>G||||||,G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_004834.4|protein_coding|2/29|c.123+57A>G||||||,G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_001242559.1|protein_coding|2/29|c.123+57A>G||||||,G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_145687.3|protein_coding|2/30|c.123+57A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=958;p3_1000G_AF=0.191294;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=12630;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102315057;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=128,1256;ESP6500_AA_GTC=5,118,569;ESP6500_CDS_SIZES=NM_145687.3:3639,NM_145686.3:3822,NM_004834.4:3498,NM_001242560.1:3708,NM_001242559.1:3720;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=71;ESP6500_EA_AC=998,2184;ESP6500_EA_GTC=155,688,748;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145687.3:intron,NM_145686.3:intron,NM_004834.4:intron,NM_001242560.1:intron,NM_001242559.1:intron;ESP6500_GL=MAP4K4;ESP6500_GRCh38_POSITION=2:101698595;ESP6500_GTC=160,806,1317;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145687.3:c.123+57A>G,NM_145686.3:c.123+57A>G,NM_004834.4:c.123+57A>G,NM_001242560.1:c.123+57A>G,NM_001242559.1:c.123+57A>G;ESP6500_MAF=31.3639,9.2486,24.6605;ESP6500_TAC=1126,3440	GT:AD:DP:GQ:PL	1/1:0,25:25:75:877,75,0
chr2	101825536	.	ATTCTCTTTGACAGCCAAGGG	A	31.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.712;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.53;ReadPosRankSum=-1.068;SOR=0.892;DEL;HET;VARTYPE=DEL;ANN=A|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_145686.3|protein_coding|5/30|c.417+112_417+131delCTTTGACAGCCAAGGGTTCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_001242560.1|protein_coding|5/30|c.417+112_417+131delCTTTGACAGCCAAGGGTTCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_004834.4|protein_coding|5/29|c.417+112_417+131delCTTTGACAGCCAAGGGTTCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_001242559.1|protein_coding|5/29|c.417+112_417+131delCTTTGACAGCCAAGGGTTCT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_145687.3|protein_coding|5/30|c.417+112_417+131delCTTTGACAGCCAAGGGTTCT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:5,2:7:69:69,0,1044
chr2	101867421	rs17745869	T	G	355.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.55;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17745869;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_145686.3|protein_coding|19/30|c.2130+112T>G||||||,G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_001242560.1|protein_coding|19/30|c.2199+112T>G||||||,G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_004834.4|protein_coding|18/29|c.1965+112T>G||||||,G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_001242559.1|protein_coding|19/29|c.2220+112T>G||||||,G|intron_variant|MODIFIER|MAP4K4|MAP4K4|transcript|NM_145687.3|protein_coding|19/30|c.2130+112T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=966;p3_1000G_AF=0.192891;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=15428;p3_1000G_EAS_AF=0.247;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102483883;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:384,30,0
chr2	102016120	rs3819369	T	A	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=5.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=-1.354;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3819369;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|IL1R2|IL1R2|transcript|NM_004633.3|protein_coding|4/8|c.513+69T>A||||||,A|intron_variant|MODIFIER|IL1R2|IL1R2|transcript|NM_001261419.1|protein_coding|4/6|c.513+69T>A||||||,A|intron_variant|MODIFIER|IL1R2|IL1R2|transcript|NR_048564.1|pseudogene|4/8|n.729+69T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3677;p3_1000G_AF=0.734225;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=18194;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.5467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102632582;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:76:76,0,299
chr2	102024409	rs3218974	A	G	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.58;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=0.865;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3218974;dbSNPBuildID=106;ANN=G|intron_variant|MODIFIER|IL1R2|IL1R2|transcript|NM_004633.3|protein_coding|6/8|c.752-124A>G||||||,G|intron_variant|MODIFIER|IL1R2|IL1R2|transcript|NM_001261419.1|protein_coding|6/6|c.752-124A>G||||||,G|intron_variant|MODIFIER|IL1R2|IL1R2|transcript|NR_048564.1|pseudogene|6/8|n.968-124A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1318;p3_1000G_AF=0.263179;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=18631;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102640871;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,16:27:99:581,0,319
chr2	102157594	rs2287047	G	A	90.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.684;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=-1.983;SOR=1.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287047;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_000877.3|protein_coding|2/11|c.-6-125G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001288706.1|protein_coding|2/11|c.-6-125G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320978.1|protein_coding|2/11|c.-6-125G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320986.1|protein_coding|2/4|c.-6-125G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320980.1|protein_coding|2/11|c.-6-125G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320981.1|protein_coding|2/11|c.-6-125G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320982.1|protein_coding|2/11|c.-6-125G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320983.1|protein_coding|1/9|c.-372+3577G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320984.1|protein_coding|1/9|c.-365-125G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320985.1|protein_coding|1/9|c.-542-125G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2122;p3_1000G_AF=0.423722;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=18385;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102774054;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:99:119,0,352
chr2	102168698	rs3213735;rs546822534;rs548049991;rs66510675	G	T	565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3213735;dbSNPBuildID=106;ANN=T|downstream_gene_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320986.1|protein_coding||c.*3379G>T|||||3327|,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_000877.3|protein_coding|7/11|c.721+35G>T||||||,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001288706.1|protein_coding|7/11|c.721+35G>T||||||,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320978.1|protein_coding|7/11|c.721+35G>T||||||,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320980.1|protein_coding|7/11|c.721+35G>T||||||,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320981.1|protein_coding|7/11|c.721+35G>T||||||,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320982.1|protein_coding|7/11|c.721+35G>T||||||,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320983.1|protein_coding|5/9|c.289+35G>T||||||,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320984.1|protein_coding|5/9|c.172+35G>T||||||,T|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320985.1|protein_coding|5/9|c.16+35G>T||||||;p3_1000G_AC=1740;p3_1000G_AF=0.347444;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=15936;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102785158;p3_1000G_GRCH37_REF=GT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP,INDEL;ESP6500_AA=G;ESP6500_AA_AC=444,3962;ESP6500_AA_GTC=101,242,1860;ESP6500_CDS_SIZES=NM_000877.2:1710;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=81;ESP6500_EA_AC=1277,7323;ESP6500_EA_GTC=350,577,3373;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000877.2:intron;ESP6500_GL=IL1R1;ESP6500_GRCh38_POSITION=2:102168698;ESP6500_GTC=451,819,5233;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000877.2:c.721+35G>T;ESP6500_MAF=14.8488,10.0772,13.2324;ESP6500_TAC=1721,11285	GT:AD:DP:GQ:PL	1/1:0,18:18:54:594,54,0
chr2	102171949	rs2041747	G	A	353.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.21;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2041747;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_000877.3|protein_coding|8/11|c.839+31G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001288706.1|protein_coding|8/11|c.839+31G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320978.1|protein_coding|8/11|c.839+31G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320980.1|protein_coding|8/11|c.839+31G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320981.1|protein_coding|8/11|c.839+31G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320982.1|protein_coding|8/11|c.839+31G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320983.1|protein_coding|6/9|c.407+31G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320984.1|protein_coding|6/9|c.290+31G>A||||||,A|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320985.1|protein_coding|6/9|c.134+31G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4943;p3_1000G_AF=0.987021;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=16365;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102788409;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4370,36;ESP6500_AA_AGE=40.8+/-73.8;ESP6500_AA_GTC=2167,36,0;ESP6500_CDS_SIZES=NM_000877.2:1710;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=87;ESP6500_EA_AC=8223,377;ESP6500_EA_AGE=123.8+/-182.6;ESP6500_EA_GTC=3935,353,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000877.2:intron;ESP6500_GL=IL1R1;ESP6500_GRCh38_POSITION=2:102171949;ESP6500_GTC=6102,389,12;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000877.2:c.839+31G>A;ESP6500_MAF=4.3837,0.8171,3.1755;ESP6500_TAC=12593,413	GT:AD:DP:GQ:PL	1/1:0,13:13:39:382,39,0
chr2	102176300	rs3917318	A	G	637.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.57;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3917318;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_000877.3|protein_coding|11/11|c.1304-53A>G||||||,G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001288706.1|protein_coding|11/11|c.1211-53A>G||||||,G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320978.1|protein_coding|11/11|c.1304-53A>G||||||,G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320980.1|protein_coding|11/11|c.1304-53A>G||||||,G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320981.1|protein_coding|11/11|c.1304-53A>G||||||,G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320982.1|protein_coding|11/11|c.1304-53A>G||||||,G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320983.1|protein_coding|9/9|c.872-53A>G||||||,G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320984.1|protein_coding|9/9|c.755-53A>G||||||,G|intron_variant|MODIFIER|IL1R1|IL1R1|transcript|NM_001320985.1|protein_coding|9/9|c.599-53A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1860;p3_1000G_AF=0.371406;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=19069;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102792760;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3538;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:666,57,0
chr2	102226007	rs2302620	T	C	1939.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.71;SOR=1.011;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2302620;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|IL1RL2|IL1RL2|transcript|NM_003854.2|protein_coding|9/12|c.1101T>C|p.Tyr367Tyr|1227/1964|1101/1728|367/575||;p3_1000G_AA=T|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=14695;p3_1000G_EAS_AF=0.2004;p3_1000G_EUR_AF=0.1213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102842467;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=796,3610;ESP6500_AA_AGE=321.3+/-297.0;ESP6500_AA_GTC=65,666,1472;ESP6500_CDS_SIZES=NM_003854.2:1728;ESP6500_CG=2.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=137;ESP6500_EA_AC=977,7623;ESP6500_EA_AGE=211.4+/-252.0;ESP6500_EA_GTC=55,867,3378;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003854.2:coding-synonymous;ESP6500_GL=IL1RL2;ESP6500_GRCh38_POSITION=2:102226007;ESP6500_GTC=120,1533,4850;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003854.2:c.1101T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003854.2:p.(Y367);ESP6500_MAF=11.3605,18.0663,13.6322;ESP6500_TAC=1773,11233	GT:AD:DP:GQ:PL	1/1:0,70:70:99:1968,209,0
chr2	102234783	rs6742931	C	T	197.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6742931;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|IL1RL2|IL1RL2|transcript|NM_003854.2|protein_coding|10/11|c.1298-114C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1780;p3_1000G_AF=0.355431;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=16845;p3_1000G_EAS_AF=0.2847;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102851243;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:226,18,0
chr2	102235248	rs2302612	T	C	1938.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=1.197;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2302612;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|IL1RL2|IL1RL2|transcript|NM_003854.2|protein_coding|11/12|c.1649T>C|p.Leu550Pro|1775/1964|1649/1728|550/575||;p3_1000G_AA=C|||;p3_1000G_AC=1592;p3_1000G_AF=0.317891;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=20642;p3_1000G_EAS_AF=0.2857;p3_1000G_EUR_AF=0.1889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102851708;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2167,2239;ESP6500_AA_AGE=588.8+/-387.0;ESP6500_AA_GTC=550,1067,586;ESP6500_CDS_SIZES=NM_003854.2:1728;ESP6500_CG=1.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=1642,6958;ESP6500_EA_AGE=739.0+/-407.1;ESP6500_EA_GTC=173,1296,2831;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003854.2:missense;ESP6500_GL=IL1RL2;ESP6500_GRCh38_POSITION=2:102235248;ESP6500_GS=98;ESP6500_GTC=723,2363,3417;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003854.2:c.1649T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003854.2:p.(L550P);ESP6500_MAF=19.093,49.1829,29.2865;ESP6500_PH=benign:0.007;ESP6500_TAC=3809,9197	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1967,183,0
chr2	102338193	rs13431828	C	T	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.965;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-0.533;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13431828;dbSNPBuildID=121;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|2/11|c.-72C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL1RL1|IL1RL1|transcript|NM_003856.3|protein_coding|2/8|c.-72C>T||||||,T|5_prime_UTR_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|2/11|c.-72C>T|||||72|,T|5_prime_UTR_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_003856.3|protein_coding|2/8|c.-72C>T|||||72|,T|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_001282408.1|protein_coding|1/6|c.-146-788C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NR_104167.1|pseudogene|2/9|n.166C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=800;p3_1000G_AF=0.159744;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=14196;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102954653;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:201,0,137
chr2	102339008	rs1041973	C	A	509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.852;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.473;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.931;SOR=1.14;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1041973;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|3/11|c.233C>A|p.Ala78Glu|504/2058|233/1671|78/556||,A|missense_variant|MODERATE|IL1RL1|IL1RL1|transcript|NM_003856.3|protein_coding|3/8|c.233C>A|p.Ala78Glu|470/3892|233/987|78/328||,A|5_prime_UTR_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_001282408.1|protein_coding|2/7|c.-119C>A|||||1169|,A|non_coding_transcript_exon_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NR_104167.1|pseudogene|3/9|n.470C>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=1412;p3_1000G_AF=0.281949;p3_1000G_AFR_AF=0.5666;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=17855;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.2366;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102955468;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2066,2340;ESP6500_AA_AGE=606.1+/-390.7;ESP6500_AA_GTC=486,1094,623;ESP6500_CDS_SIZES=NM_016232.4:1671,NM_003856.2:987;ESP6500_CG=2.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=170;ESP6500_EA_AC=2178,6422;ESP6500_EA_AGE=712.4+/-405.9;ESP6500_EA_GTC=281,1616,2403;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016232.4:missense,NM_003856.2:missense;ESP6500_GL=IL1RL1;ESP6500_GRCh38_POSITION=2:102339008;ESP6500_GS=107,107;ESP6500_GTC=767,2710,3026;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_016232.4:c.233C>A,NM_003856.2:c.233C>A;ESP6500_HGVS_PROTEIN_VAR=NM_016232.4:p.(A78E),NM_003856.2:p.(A78E);ESP6500_MAF=25.3256,46.8906,32.6311;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=4244,8762	GT:AD:DP:GQ:PL	0/1:30,21:51:99:538,0,849
chr2	102340888	rs10173081	C	T	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.4;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=1.15;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10173081;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|5/10|c.610+60C>T||||||,T|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_001282408.1|protein_coding|4/6|c.259+60C>T||||||,T|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_003856.3|protein_coding|5/7|c.610+60C>T||||||,T|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NR_104167.1|pseudogene|5/8|n.847+60C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=800;p3_1000G_AF=0.159744;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=17333;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102957348;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:215,0,146
chr2	102341072	rs3732129	T	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=1.28;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732129;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|5/10|c.610+244T>C||||||,C|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_001282408.1|protein_coding|4/6|c.259+244T>C||||||,C|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_003856.3|protein_coding|5/7|c.610+244T>C||||||,C|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NR_104167.1|pseudogene|5/8|n.848-116T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=1158;p3_1000G_AF=0.23123;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=18709;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.2525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102957532;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:63:112,0,63
chr2	102341256	rs1420101	C	T	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.76;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.473;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.42;SOR=1.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1420101;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|5/10|c.610+428C>T||||||,T|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_001282408.1|protein_coding|4/6|c.259+428C>T||||||,T|intron_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NM_003856.3|protein_coding|5/7|c.610+428C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|IL1RL1|IL1RL1|transcript|NR_104167.1|pseudogene|6/9|n.916C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=1803;p3_1000G_AF=0.360024;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=14714;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.34;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102957716;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,12:29:99:312,0,371
chr2	102351547	rs4988956	G	A	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.123;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.181;SOR=0.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4988956;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|11/11|c.1297G>A|p.Ala433Thr|1568/2058|1297/1671|433/556||,A|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding||c.-11114G>A|||||4736|,A|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding||c.-22444G>A|||||4736|;p3_1000G_AA=g|||;p3_1000G_AC=1930;p3_1000G_AF=0.385383;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=19832;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102968007;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3105,1301;ESP6500_AA_GTC=1100,905,198;ESP6500_CDS_SIZES=NM_016232.4:1671;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_113;ESP6500_DP=71;ESP6500_EA_AC=3346,5254;ESP6500_EA_GTC=667,2012,1621;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016232.4:missense;ESP6500_GL=IL1RL1;ESP6500_GRCh38_POSITION=2:102351547;ESP6500_GS=58;ESP6500_GTC=1767,2917,1819;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016232.4:c.1297G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016232.4:p.(A433T);ESP6500_MAF=38.907,29.5279,49.6002;ESP6500_PH=possibly-damaging:0.693;ESP6500_TAC=6451,6555	GT:AD:DP:GQ:PL	0/1:16,19:35:99:482,0,514
chr2	102351615	rs4988957	T	C	632.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.07;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.049;SOR=0.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4988957;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|11/11|c.1365T>C|p.Asn455Asn|1636/2058|1365/1671|455/556||,C|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding||c.-11046T>C|||||4668|,C|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding||c.-22376T>C|||||4668|;p3_1000G_AA=c|||;p3_1000G_AC=1930;p3_1000G_AF=0.385383;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=19126;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102968075;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3105,1301;ESP6500_AA_AGE=439.4+/-345.7;ESP6500_AA_GTC=1100,905,198;ESP6500_CDS_SIZES=NM_016232.4:1671;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_113;ESP6500_DP=86;ESP6500_EA_AC=3346,5254;ESP6500_EA_AGE=643.6+/-399.9;ESP6500_EA_GTC=667,2012,1621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016232.4:coding-synonymous;ESP6500_GL=IL1RL1;ESP6500_GRCh38_POSITION=2:102351615;ESP6500_GTC=1767,2917,1819;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016232.4:c.1365T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016232.4:p.(N455);ESP6500_MAF=38.907,29.5279,49.6002;ESP6500_TAC=6451,6555	GT:AD:DP:GQ:PL	0/1:31,25:56:99:661,0,729
chr2	102351751	rs10192036	C	A	871.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.998;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=-1.269;SOR=0.469;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10192036;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|11/11|c.1501C>A|p.Gln501Lys|1772/2058|1501/1671|501/556||,A|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding||c.-10910C>A|||||4532|,A|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding||c.-22240C>A|||||4532|;p3_1000G_AA=c|||;p3_1000G_AC=1913;p3_1000G_AF=0.381989;p3_1000G_AFR_AF=0.7428;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=17678;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102968211;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=302,4104;ESP6500_AA_GTC=31,240,1932;ESP6500_CDS_SIZES=NM_016232.4:1671;ESP6500_CG=-4.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=49;ESP6500_EA_AC=154,8446;ESP6500_EA_GTC=15,124,4161;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016232.4:missense;ESP6500_GL=IL1RL1;ESP6500_GRCh38_POSITION=2:102351751;ESP6500_GS=53;ESP6500_GTC=46,364,6093;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_016232.4:c.1501C>A;ESP6500_HGVS_PROTEIN_VAR=NM_016232.4:p.(Q501K);ESP6500_MAF=1.7907,6.8543,3.5061;ESP6500_PH=benign:0.0;ESP6500_TAC=456,12550	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,23:45:99:0|1:102351751_C_A:900,0,855
chr2	102351752	rs10204137	A	G	871.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=-0.807;SOR=0.469;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10204137;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|11/11|c.1502A>G|p.Gln501Arg|1773/2058|1502/1671|501/556||,G|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding||c.-10909A>G|||||4531|,G|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding||c.-22239A>G|||||4531|;p3_1000G_AA=g|||;p3_1000G_AC=1912;p3_1000G_AF=0.381789;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=17806;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102968212;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=440,3966;ESP6500_AA_GTC=104,232,1867;ESP6500_CDS_SIZES=NM_016232.4:1671;ESP6500_CG=-0.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=49;ESP6500_EA_AC=237,8363;ESP6500_EA_GTC=56,125,4119;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016232.4:missense;ESP6500_GL=IL1RL1;ESP6500_GRCh38_POSITION=2:102351752;ESP6500_GS=43;ESP6500_GTC=160,357,5986;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016232.4:c.1502A>G;ESP6500_HGVS_PROTEIN_VAR=NM_016232.4:p.(Q501R);ESP6500_MAF=2.7558,9.9864,5.2053;ESP6500_PH=benign:0.0;ESP6500_TAC=677,12329	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,23:45:99:0|1:102351751_C_A:900,0,855
chr2	102351825	rs4988958	T	C	716.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.912;SOR=1.11;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4988958;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|11/11|c.1575T>C|p.Ser525Ser|1846/2058|1575/1671|525/556||,C|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding||c.-10836T>C|||||4458|,C|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding||c.-22166T>C|||||4458|;p3_1000G_AA=t|||;p3_1000G_AC=1929;p3_1000G_AF=0.385184;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=18592;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102968285;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3104,1302;ESP6500_AA_GTC=1100,904,199;ESP6500_CDS_SIZES=NM_016232.4:1671;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_113;ESP6500_DP=53;ESP6500_EA_AC=3344,5256;ESP6500_EA_GTC=666,2012,1622;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016232.4:coding-synonymous;ESP6500_GL=IL1RL1;ESP6500_GRCh38_POSITION=2:102351825;ESP6500_GTC=1766,2916,1821;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016232.4:c.1575T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016232.4:p.(S525);ESP6500_MAF=38.8837,29.5506,49.5771;ESP6500_TAC=6448,6558	GT:AD:DP:GQ:PL	0/1:23,26:49:99:745,0,592
chr2	102351896	rs10192157	C	T	853.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.328;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.4;ReadPosRankSum=-0.734;SOR=0.826;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10192157;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|11/11|c.1646C>T|p.Thr549Ile|1917/2058|1646/1671|549/556||,T|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding||c.-10765C>T|||||4387|,T|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding||c.-22095C>T|||||4387|;p3_1000G_AA=c|||;p3_1000G_AC=1929;p3_1000G_AF=0.385184;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=19420;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102968356;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3076,1322;ESP6500_AA_GTC=1088,900,211;ESP6500_CDS_SIZES=NM_016232.4:1671;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=61;ESP6500_EA_AC=3333,5267;ESP6500_EA_GTC=665,2003,1632;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016232.4:missense;ESP6500_GL=IL1RL1;ESP6500_GRCh38_POSITION=2:102351896;ESP6500_GS=89;ESP6500_GTC=1753,2903,1843;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016232.4:c.1646C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016232.4:p.(T549I);ESP6500_MAF=38.7558,30.0591,49.3076;ESP6500_PH=benign:0.063;ESP6500_TAC=6409,6589	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,23:44:99:0|1:102351896_C_T:882,0,813
chr2	102351902	rs10206753	T	C	817.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=-0.132;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10206753;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|IL1RL1|IL1RL1|transcript|NM_016232.4|protein_coding|11/11|c.1652T>C|p.Leu551Ser|1923/2058|1652/1671|551/556||,C|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding||c.-10759T>C|||||4381|,C|upstream_gene_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding||c.-22089T>C|||||4381|;p3_1000G_AA=t|||;p3_1000G_AC=1929;p3_1000G_AF=0.385184;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=19665;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.4046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102968362;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3066,1326;ESP6500_AA_GTC=1086,894,216;ESP6500_CDS_SIZES=NM_016232.4:1671;ESP6500_CG=1.1;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=60;ESP6500_EA_AC=3324,5274;ESP6500_EA_GTC=662,2000,1637;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016232.4:missense;ESP6500_GL=IL1RL1;ESP6500_GRCh38_POSITION=2:102351902;ESP6500_GS=145;ESP6500_GTC=1748,2894,1853;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016232.4:c.1652T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016232.4:p.(L551S);ESP6500_MAF=38.6602,30.1913,49.1917;ESP6500_PH=benign:0.352;ESP6500_TAC=6390,6600	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,22:43:99:0|1:102351896_C_T:846,0,816
chr2	102362568	rs2287037	C	T	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.823;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-2.232;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287037;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding|1/10|c.-28-65C>T||||||,T|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding|1/10|c.-306-65C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1649;p3_1000G_AF=0.329273;p3_1000G_AFR_AF=0.2179;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=16204;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.3777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102979028;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:202,0,251
chr2	102367819	rs1420098	T	C	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.11;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.702;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.24;SOR=0.141;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1420098;dbSNPBuildID=88;ANN=C|splice_region_variant&intron_variant|LOW|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding|2/10|c.59-6T>C||||||,C|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding|2/10|c.-220-4134T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1649;p3_1000G_AF=0.329273;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=20377;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.3777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102984279;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1016,3390;ESP6500_AA_AGE=366.1+/-317.7;ESP6500_AA_GTC=118,780,1305;ESP6500_CDS_SIZES=NM_003855.2:1626;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=32;ESP6500_EA_AC=3303,5297;ESP6500_EA_AGE=480.0+/-370.3;ESP6500_EA_GTC=620,2063,1617;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003855.2:intron;ESP6500_GL=IL18R1;ESP6500_GRCh38_POSITION=2:102367819;ESP6500_GTC=738,2843,2922;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003855.2:c.59-6T>C;ESP6500_MAF=38.407,23.0595,33.2078;ESP6500_TAC=4319,8687	GT:AD:DP:GQ:PL	0/1:12,8:20:99:240,0,361
chr2	102374188	rs17027029	G	C	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.253;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.524;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17027029;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding|4/10|c.469-1719G>C||||||,C|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding|4/10|c.3+195G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=926;p3_1000G_AF=0.184904;p3_1000G_AFR_AF=0.3548;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=16620;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=102990648;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:37:77,0,37
chr2	102384942	rs1035130	C	T	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.758;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-1.275;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1035130;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding|7/11|c.753C>T|p.Phe251Phe|899/3661|753/1626|251/541||,T|synonymous_variant|LOW|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding|7/11|c.288C>T|p.Phe96Phe|712/3471|288/1158|96/385||;p3_1000G_AA=C|||;p3_1000G_AC=1284;p3_1000G_AF=0.25639;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=15374;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103001402;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=691,3715;ESP6500_AA_AGE=286.9+/-279.0;ESP6500_AA_GTC=53,585,1565;ESP6500_CDS_SIZES=NM_003855.2:1626;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=110;ESP6500_EA_AC=2343,6257;ESP6500_EA_AGE=391.3+/-343.6;ESP6500_EA_GTC=333,1677,2290;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003855.2:coding-synonymous;ESP6500_GL=IL18R1;ESP6500_GRCh38_POSITION=2:102384942;ESP6500_GTC=386,2262,3855;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003855.2:c.753C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003855.2:p.(F251);ESP6500_MAF=27.2442,15.6832,23.3277;ESP6500_TAC=3034,9972	GT:AD:DP:GQ:PL	0/1:17,13:30:99:288,0,433
chr2	102389988	rs6749014	C	T	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.959;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.385;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=-1.33;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6749014;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding|8/10|c.950-68C>T||||||,T|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding|8/10|c.485-71C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2164;p3_1000G_AF=0.432109;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.3415;p3_1000G_AN=5008;p3_1000G_DP=20626;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103006448;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,7:27:99:180,0,704
chr2	102394452	rs1420096	C	T	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.358;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.793;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1420096;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_003855.3|protein_coding|9/10|c.1112-17C>T||||||,T|intron_variant|MODIFIER|IL18R1|IL18R1|transcript|NM_001282399.1|protein_coding|9/10|c.644-17C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2163;p3_1000G_AF=0.431909;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=16167;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.5298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103010912;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3225,1181;ESP6500_AA_AGE=411.9+/-335.9;ESP6500_AA_GTC=1167,891,145;ESP6500_CDS_SIZES=NM_003855.2:1626;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=59;ESP6500_EA_AC=4302,4298;ESP6500_EA_AGE=575.6+/-390.2;ESP6500_EA_GTC=1102,2098,1100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003855.2:intron;ESP6500_GL=IL18R1;ESP6500_GRCh38_POSITION=2:102394452;ESP6500_GTC=2269,2989,1245;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003855.2:c.1112-17C>T;ESP6500_MAF=49.9767,26.8044,42.1267;ESP6500_TAC=7527,5479	GT:AD:DP:GQ:PL	0/1:10,10:20:99:255,0,294
chr2	102423413	rs2272127	C	G	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.117;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=-1.809;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272127;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|3/11|c.70+66C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=951;p3_1000G_AF=0.189896;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=20700;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.1849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103039873;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=409,975;ESP6500_AA_GTC=55,299,338;ESP6500_CDS_SIZES=NM_003853.2:1800;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=163;ESP6500_EA_AC=602,2580;ESP6500_EA_GTC=58,486,1047;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003853.2:intron;ESP6500_GL=IL18RAP;ESP6500_GRCh38_POSITION=2:102423413;ESP6500_GTC=113,785,1385;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003853.2:c.70+66C>G;ESP6500_MAF=18.9189,29.552,22.1419;ESP6500_TAC=1011,3555	GT:AD:DP:GQ:PL	0/1:10,15:25:99:474,0,280
chr2	102423469	rs2272128	G	A	522.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.85;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272128;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|3/11|c.70+122G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3447;p3_1000G_AF=0.688299;p3_1000G_AFR_AF=0.885;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=18915;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.7773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103039929;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:551,45,0
chr2	102423717	rs6543133	A	T	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.588;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.2;ReadPosRankSum=-1.241;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6543133;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|3/11|c.71-94A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2177;p3_1000G_AF=0.434704;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=21020;p3_1000G_EAS_AF=0.1687;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103040177;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,9:14:99:0|1:102423717_A_T:353,0,183
chr2	102423722	rs9807934	T	G	356.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.842;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.48;ReadPosRankSum=-1.176;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9807934;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|3/11|c.71-89T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=951;p3_1000G_AF=0.189896;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=20964;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.1839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103040182;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,9:14:99:0|1:102423717_A_T:385,0,180
chr2	102423787	rs11377261;rs398104566;~rs67606254	T	TG	1330.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.56;SOR=2.546;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11377261;dbSNPBuildID=132,138;ANN=TG|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|3/11|c.71-23dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=3452;p3_1000G_AF=0.689297;p3_1000G_AFR_AF=0.8896;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=22249;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.7773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103040247;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=INDEL;ESP6500_AA_AC=3795,445;ESP6500_AA_GTC=1701,393,26;ESP6500_CDS_SIZES=NM_003853.2:1800;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=35;ESP6500_EA_AC=6337,1899;ESP6500_EA_GTC=2442,1453,223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003853.2:intron;ESP6500_GL=IL18RAP;ESP6500_GRCh38_POSITION=2:102423787;ESP6500_GTC=4143,1846,249;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003853.2:c.71-24_71-23insG;ESP6500_MAF=23.0573,10.4953,18.7881;ESP6500_TAC=10132,2344	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,29:29:93:1|1:102423787_T_TG:1368,93,0
chr2	102423789	rs2272129	C	T	1339.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=2.694;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272129;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|3/11|c.71-22C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3452;p3_1000G_AF=0.689297;p3_1000G_AFR_AF=0.8896;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=21377;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.7773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103040249;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,31:31:93:1|1:102423787_T_TG:1368,93,0
chr2	102424485	rs887972	G	A	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.548;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.1;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs887972;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|5/11|c.579+71G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1400;p3_1000G_AF=0.279553;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=19052;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103040945;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:163,0,211
chr2	102441432	rs11465702	A	G	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=1.39;SOR=1.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11465702;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|7/11|c.796+55A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=384;p3_1000G_AF=0.0766773;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=19504;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103057892;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=81,1303;ESP6500_AA_GTC=1,79,612;ESP6500_CDS_SIZES=NM_003853.2:1800;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=69;ESP6500_EA_AC=473,2709;ESP6500_EA_GTC=38,397,1156;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003853.2:intron;ESP6500_GL=IL18RAP;ESP6500_GRCh38_POSITION=2:102441432;ESP6500_GTC=39,476,1768;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003853.2:c.796+55A>G;ESP6500_MAF=14.8649,5.8526,12.1332;ESP6500_TAC=554,4012	GT:AD:DP:GQ:PL	0/1:18,5:23:99:103,0,497
chr2	102443153	rs1558651	A	G	910.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.46;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1558651;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|7/11|c.797-47A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19056;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103059613;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4406,0;ESP6500_AA_GTC=2203,0,0;ESP6500_CDS_SIZES=NM_003853.2:1800;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=52;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003853.2:intron;ESP6500_GL=IL18RAP;ESP6500_GRCh38_POSITION=2:102443153;ESP6500_GTC=6501,2,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003853.2:c.797-47A>G;ESP6500_MAF=0.0233,0.0,0.0154;ESP6500_TAC=13004,2	GT:AD:DP:GQ:PL	1/1:0,32:32:96:939,96,0
chr2	102447060	rs11465723	G	A	381.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.798;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.231;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.611;SOR=0.268;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11465723;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|IL18RAP|IL18RAP|transcript|NM_003853.3|protein_coding|9/11|c.1073-10G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=384;p3_1000G_AF=0.0766773;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=15919;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0.1541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103063520;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=301,4105;ESP6500_AA_AGE=164.7+/-196.3;ESP6500_AA_GTC=7,287,1909;ESP6500_CDS_SIZES=NM_003853.2:1800;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=172;ESP6500_EA_AC=1333,7267;ESP6500_EA_AGE=262.1+/-284.2;ESP6500_EA_GTC=116,1101,3083;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003853.2:intron;ESP6500_GL=IL18RAP;ESP6500_GRCh38_POSITION=2:102447060;ESP6500_GTC=123,1388,4992;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003853.2:c.1073-10G>A;ESP6500_MAF=15.5,6.8316,12.5634;ESP6500_TAC=1634,11372	GT:AD:DP:GQ:PL	0/1:21,16:37:99:410,0,641
chr2	102478945	rs11692304	G	A	1163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.336;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=3.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.241;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11692304;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|2/12|c.363G>A|p.Ser121Ser|820/4138|363/2397|121/798||;p3_1000G_AA=G|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=17601;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.5219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103095404;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1337,3069;ESP6500_AA_AGE=446.7+/-348.1;ESP6500_AA_GTC=202,933,1068;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=-11.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=66;ESP6500_EA_AC=4126,4474;ESP6500_EA_AGE=563.3+/-388.1;ESP6500_EA_GTC=1020,2086,1194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011552.3:coding-synonymous;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102478945;ESP6500_GTC=1222,3019,2262;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.363G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001011552.3:p.(S121);ESP6500_MAF=47.9767,30.345,42.0037;ESP6500_TAC=5463,7543	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1192,0,1308
chr2	102503773	rs2075188	G	A	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.609;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.75;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.727;SOR=0.121;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2075188;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|3/11|c.980+66G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3223;p3_1000G_AF=0.64357;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=19904;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103120232;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:208,0,452
chr2	102505195	rs72825956	G	A	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.44;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.536;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72825956;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|3/11|c.981-59G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=537;p3_1000G_AF=0.107228;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=19685;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.0905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103121654;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,12:22:99:380,0,354
chr2	102508062	rs201793078	C	T	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.572;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.252;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-2.344;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201793078;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|4/11|c.1199-17C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=24;p3_1000G_AF=0.00479233;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17070;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103124521;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=100;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=819.0+/-406.8;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011552.3:intron;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102508062;ESP6500_GTC=0,3,6500;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.1199-17C>T;ESP6500_MAF=0.0349,0.0,0.0231;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PL	0/1:18,21:39:99:484,0,425
chr2	102508998	rs6739301	A	G	1276.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6739301;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|6/11|c.1488+65A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3503;p3_1000G_AF=0.699481;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=20164;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.7982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103125457;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,29:29:87:1|1:102508998_A_G:1305,87,0
chr2	102509007	rs6742381	T	C	1276.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=1.688;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6742381;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|6/11|c.1488+74T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3502;p3_1000G_AF=0.699281;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=20249;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.7982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103125466;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,29:29:87:1|1:102508998_A_G:1305,87,0
chr2	102519850	rs1403550	T	C	1291.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1403550;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|8/11|c.1722-9T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3875;p3_1000G_AF=0.773762;p3_1000G_AFR_AF=0.9644;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=19350;p3_1000G_EAS_AF=0.5744;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103136309;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4103,303;ESP6500_AA_AGE=798.0+/-415.4;ESP6500_AA_GTC=1910,283,10;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=65;ESP6500_EA_AC=6619,1981;ESP6500_EA_AGE=722.9+/-406.4;ESP6500_EA_GTC=2544,1531,225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011552.3:intron;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102519850;ESP6500_GTC=4454,1814,235;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.1722-9T>C;ESP6500_MAF=23.0349,6.877,17.5611;ESP6500_TAC=10722,2284	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1320,129,0
chr2	102519987	rs1403551	T	G	1126.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1403551;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|9/11|c.1818+32T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3619;p3_1000G_AF=0.722644;p3_1000G_AFR_AF=0.7814;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=20331;p3_1000G_EAS_AF=0.5744;p3_1000G_EUR_AF=0.7992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103136446;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3315,1091;ESP6500_AA_AGE=394.2+/-329.2;ESP6500_AA_GTC=1263,789,151;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=56;ESP6500_EA_AC=6615,1985;ESP6500_EA_AGE=347.9+/-326.8;ESP6500_EA_GTC=2542,1531,227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011552.3:intron;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102519987;ESP6500_GTC=3805,2320,378;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.1818+32T>G;ESP6500_MAF=23.0814,24.7617,23.6506;ESP6500_TAC=9930,3076	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1155,105,0
chr2	102524988	rs2015478	A	G	646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.36;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2015478;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|9/11|c.1819-36A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3196;p3_1000G_AF=0.638179;p3_1000G_AFR_AF=0.7216;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=18670;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103141447;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3063,1343;ESP6500_AA_AGE=691.7+/-405.4;ESP6500_AA_GTC=1068,927,208;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=203;ESP6500_EA_AC=5459,3141;ESP6500_EA_AGE=653.7+/-401.1;ESP6500_EA_GTC=1737,1985,578;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011552.3:intron;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102524988;ESP6500_GTC=2805,2912,786;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.1819-36A>G;ESP6500_MAF=36.5233,30.4812,34.4764;ESP6500_TAC=8522,4484	GT:AD:DP:GQ:PL	1/1:0,18:18:54:675,54,0
chr2	102525192	rs1024798	G	C	829.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1024798;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|10/11|c.1950+37G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3881;p3_1000G_AF=0.77496;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=19295;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103141651;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4131,275;ESP6500_AA_AGE=155.9+/-189.0;ESP6500_AA_GTC=1938,255,10;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=6615,1985;ESP6500_EA_AGE=348.9+/-327.2;ESP6500_EA_GTC=2541,1533,226;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011552.3:intron;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102525192;ESP6500_GTC=4479,1788,236;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.1950+37G>C;ESP6500_MAF=23.0814,6.2415,17.3766;ESP6500_TAC=10746,2260	GT:AD:DP:GQ:PL	1/1:0,21:21:63:858,63,0
chr2	102532641	rs1014286	G	A	1418.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=1.067;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1014286;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|12/12|c.2350G>A|p.Gly784Ser|2807/4138|2350/2397|784/798||;p3_1000G_AA=G|||;p3_1000G_AC=3117;p3_1000G_AF=0.622404;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=19648;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103149100;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2825,1581;ESP6500_AA_AGE=665.2+/-401.5;ESP6500_AA_GTC=907,1011,285;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=53;ESP6500_EA_AC=5463,3137;ESP6500_EA_AGE=654.0+/-401.1;ESP6500_EA_GTC=1739,1985,576;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001011552.3:missense;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102532641;ESP6500_GS=56;ESP6500_GTC=2646,2996,861;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.2350G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001011552.3:p.(G784S);ESP6500_MAF=36.4767,35.8829,36.2756;ESP6500_PH=benign:0.0;ESP6500_TAC=8288,4718	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1447,144,0
chr2	102532703	rs2008159	A	G	1201.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2008159;dbSNPBuildID=92;ANN=G|3_prime_UTR_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|12/12|c.*15A>G|||||15|;p3_1000G_AA=A|||;p3_1000G_AC=3115;p3_1000G_AF=0.622005;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=20555;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103149162;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5613;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2819,1587;ESP6500_AA_GTC=909,1001,293;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=35;ESP6500_EA_AC=5450,3150;ESP6500_EA_GTC=1741,1968,591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011552.3:utr-3;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102532703;ESP6500_GTC=2650,2969,884;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.*15A>G;ESP6500_MAF=36.6279,36.0191,36.4217;ESP6500_TAC=8269,4737	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1230,114,0
chr2	102532723	rs2008157	A	G	1119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.209;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2008157;dbSNPBuildID=92;ANN=G|3_prime_UTR_variant|MODIFIER|SLC9A4|SLC9A4|transcript|NM_001011552.3|protein_coding|12/12|c.*35A>G|||||35|;p3_1000G_AA=A|||;p3_1000G_AC=3117;p3_1000G_AF=0.622404;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=20907;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103149182;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2818,1584;ESP6500_AA_GTC=908,1002,291;ESP6500_CDS_SIZES=NM_001011552.3:2397;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=28;ESP6500_EA_AC=5437,3163;ESP6500_EA_GTC=1744,1949,607;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001011552.3:utr-3;ESP6500_GL=SLC9A4;ESP6500_GRCh38_POSITION=2:102532723;ESP6500_GTC=2652,2951,898;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001011552.3:c.*35A>G;ESP6500_MAF=36.7791,35.9836,36.5098;ESP6500_TAC=8255,4747	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1148,108,0
chr2	102665081	rs35151143;rs397801239	G	GT	379.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.305;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-1.617;SOR=0.512;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35151143;dbSNPBuildID=126,138;ANN=GT|splice_region_variant&intron_variant|LOW|SLC9A2|SLC9A2|transcript|NM_003048.5|protein_coding|2/11|c.754-8dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:16,18:34:99:417,0,330
chr2	102694879	rs10589861;rs112645842;rs3079241	AGTTT	A	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=4.804;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10589861,rs3079241,rs112645842;dbSNPBuildID=135,132,129;ANN=A|intron_variant|MODIFIER|SLC9A2|SLC9A2|transcript|NM_003048.5|protein_coding|6/11|c.1516-158_1516-155delTTTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3095;p3_1000G_AF=0.618011;p3_1000G_AFR_AF=0.6165;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=19444;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103311338;p3_1000G_GRCH37_REF=AGTTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:450,30,0
chr2	102718510	rs1052431	G	A	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.072;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.982;SOR=0.977;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052431;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|MFSD9|MFSD9|transcript|NM_032718.4|protein_coding|6/6|c.1335C>T|p.Gly445Gly|1413/5297|1335/1425|445/474||,A|synonymous_variant|LOW|MFSD9|MFSD9|transcript|NM_001322080.1|protein_coding|6/6|c.1152C>T|p.Gly384Gly|1529/5413|1152/1242|384/413||,A|synonymous_variant|LOW|MFSD9|MFSD9|transcript|NM_001322081.1|protein_coding|6/6|c.1152C>T|p.Gly384Gly|1430/5314|1152/1242|384/413||,A|non_coding_transcript_exon_variant|MODIFIER|MFSD9|MFSD9|transcript|NR_136173.1|pseudogene|7/7|n.1497C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|MFSD9|MFSD9|transcript|NR_136174.1|pseudogene|6/7|n.1382C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2056;p3_1000G_AF=0.410543;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=18498;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.3539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103334969;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1245,3161;ESP6500_AA_AGE=396.7+/-330.2;ESP6500_AA_GTC=184,877,1142;ESP6500_CDS_SIZES=NM_032718.3:1425;ESP6500_CG=-7.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=43;ESP6500_EA_AC=2752,5846;ESP6500_EA_AGE=404.9+/-348.3;ESP6500_EA_GTC=437,1878,1984;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032718.3:coding-synonymous;ESP6500_GL=MFSD9;ESP6500_GRCh38_POSITION=2:102718510;ESP6500_GTC=621,2755,3126;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032718.3:c.1335C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032718.3:p.(G445);ESP6500_MAF=32.0074,28.2569,30.7367;ESP6500_TAC=3997,9007	GT:AD:DP:GQ:PL	0/1:13,17:30:99:409,0,352
chr2	102726775	rs3796061	G	C	324.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.71;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3796061;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MFSD9|MFSD9|transcript|NM_032718.4|protein_coding|4/5|c.427+70C>G||||||,C|intron_variant|MODIFIER|MFSD9|MFSD9|transcript|NM_001322080.1|protein_coding|4/5|c.244+70C>G||||||,C|intron_variant|MODIFIER|MFSD9|MFSD9|transcript|NM_001322081.1|protein_coding|4/5|c.244+70C>G||||||,C|intron_variant|MODIFIER|MFSD9|MFSD9|transcript|NR_136173.1|pseudogene|5/6|n.620+70C>G||||||,C|intron_variant|MODIFIER|MFSD9|MFSD9|transcript|NR_136174.1|pseudogene|4/6|n.505+70C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3844;p3_1000G_AF=0.767572;p3_1000G_AFR_AF=0.7413;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=16353;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.7664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103343234;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:353,27,0
chr2	102758597	rs2732838	T	G	449.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.18;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2732838;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_144632.4|protein_coding||c.-3621T>G|||||3434|,G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321343.1|protein_coding|3/6|c.3+124T>G||||||,G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321344.1|protein_coding|2/5|c.3+124T>G||||||,G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321345.1|protein_coding|1/4|c.-156-3990T>G||||||,G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321346.1|protein_coding|1/3|c.-156-3990T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2464;p3_1000G_AF=0.492013;p3_1000G_AFR_AF=0.6513;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=18297;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103375056;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,16:29:99:478,0,316
chr2	102762122	rs555966993;rs5833037	CT	C	12.93	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=6.47;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5833037;dbSNPBuildID=137,142;ANN=C|5_prime_UTR_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_144632.4|protein_coding|1/5|c.-80delT|||||80|INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321343.1|protein_coding|3/6|c.4-449delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321344.1|protein_coding|2/5|c.4-449delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321345.1|protein_coding|1/4|c.-156-449delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321346.1|protein_coding|1/3|c.-156-449delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr2	102762398	rs2540298	C	G	432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.319;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.155;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2540298;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_144632.4|protein_coding|1/4|c.132+49C>G||||||,G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321343.1|protein_coding|3/6|c.4-189C>G||||||,G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321344.1|protein_coding|2/5|c.4-189C>G||||||,G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321345.1|protein_coding|1/4|c.-156-189C>G||||||,G|intron_variant|MODIFIER|TMEM182|TMEM182|transcript|NM_001321346.1|protein_coding|1/3|c.-156-189C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2437;p3_1000G_AF=0.486621;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=16790;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.4066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103378857;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2731,1675;ESP6500_AA_AGE=507.6+/-366.7;ESP6500_AA_GTC=846,1039,318;ESP6500_CDS_SIZES=NM_144632.3:690;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=94;ESP6500_EA_AC=3534,5066;ESP6500_EA_AGE=629.4+/-398.2;ESP6500_EA_GTC=742,2050,1508;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144632.3:intron;ESP6500_GL=TMEM182;ESP6500_GRCh38_POSITION=2:102762398;ESP6500_GTC=1588,3089,1826;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_144632.3:c.132+49C>G;ESP6500_MAF=41.093,38.0163,48.1701;ESP6500_TAC=6265,6741	GT:AD:DP:GQ:PL	0/1:16,13:29:99:461,0,555
chr2	102814945	rs887987	T	C	587.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.39;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs887987;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|TMEM182|TMEM182|transcript|NM_144632.4|protein_coding|5/5|c.667T>C|p.Trp223Arg|854/3588|667/690|223/229||,C|missense_variant|MODERATE|TMEM182|TMEM182|transcript|NM_001321343.1|protein_coding|7/7|c.538T>C|p.Trp180Arg|855/3589|538/561|180/186||,C|missense_variant|MODERATE|TMEM182|TMEM182|transcript|NM_001321344.1|protein_coding|6/6|c.538T>C|p.Trp180Arg|728/3462|538/561|180/186||,C|missense_variant|MODERATE|TMEM182|TMEM182|transcript|NM_001321345.1|protein_coding|5/5|c.379T>C|p.Trp127Arg|643/3377|379/402|127/133||,C|missense_variant|MODERATE|TMEM182|TMEM182|transcript|NM_001321346.1|protein_coding|4/4|c.241T>C|p.Trp81Arg|505/3239|241/264|81/87||;p3_1000G_AA=C|||;p3_1000G_AC=4966;p3_1000G_AF=0.991613;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=18096;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=103431404;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4371,35;ESP6500_AA_AGE=40.0+/-72.8;ESP6500_AA_GTC=2168,35,0;ESP6500_CDS_SIZES=NM_144632.3:690;ESP6500_CG=2.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=93;ESP6500_EA_AC=8310,290;ESP6500_EA_AGE=106.6+/-167.4;ESP6500_EA_GTC=4016,278,6;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144632.3:missense;ESP6500_GL=TMEM182;ESP6500_GRCh38_POSITION=2:102814945;ESP6500_GS=101;ESP6500_GTC=6184,313,6;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144632.3:c.667T>C;ESP6500_HGVS_PROTEIN_VAR=NM_144632.3:p.(W223R);ESP6500_MAF=3.3721,0.7944,2.4988;ESP6500_PH=benign:0.0;ESP6500_TAC=12681,325	GT:AD:DP:GQ:PL	1/1:0,20:20:60:616,60,0
chr2	105038258	rs3739160	C	T	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.644;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.394;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739160;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LOC102724691|LOC102724691|transcript|NR_110603.1|pseudogene|1/2|n.43+196G>A||||||,T|intron_variant|MODIFIER|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|1/10|c.135+31C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2653;p3_1000G_AF=0.529752;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=16731;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.4612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105654716;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2285,2117;ESP6500_AA_GTC=595,1095,511;ESP6500_CDS_SIZES=NM_182640.2:1191;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=14;ESP6500_EA_AC=3746,4850;ESP6500_EA_GTC=838,2070,1390;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182640.2:intron;ESP6500_GL=MRPS9;ESP6500_GRCh38_POSITION=2:105038258;ESP6500_GTC=1433,3165,1901;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182640.2:c.135+31C>T;ESP6500_MAF=43.5784,48.0918,46.3994;ESP6500_TAC=6031,6967	GT:AD:DP:GQ:PL	0/1:8,10:18:99:275,0,289
chr2	105049062	rs12614222	G	A	98.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.76;ReadPosRankSum=-0.253;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12614222;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|1/10|c.136-109G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=885;p3_1000G_AF=0.176717;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=17635;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.2256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105665520;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:22:127,0,22
chr2	105049076	rs12611937	T	C	161.81	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.97;ReadPosRankSum=-0.674;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12611937;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|1/10|c.136-95T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=967;p3_1000G_AF=0.193091;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=17771;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105665534;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,5:6:20:190,0,20
chr2	105049350	rs11538197	C	T	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.3;ReadPosRankSum=0.837;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11538197;dbSNPBuildID=137;ANN=T|splice_region_variant&synonymous_variant|LOW|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|2/11|c.315C>T|p.Asp105Asp|383/1458|315/1191|105/396||;p3_1000G_AA=T|||;p3_1000G_AC=963;p3_1000G_AF=0.192292;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=18484;p3_1000G_EAS_AF=0.1101;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105665808;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=973,3429;ESP6500_AA_AGE=675.7+/-403.1;ESP6500_AA_GTC=102,769,1330;ESP6500_CDS_SIZES=NM_182640.2:1191;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=60;ESP6500_EA_AC=2069,6527;ESP6500_EA_AGE=701.9+/-405.2;ESP6500_EA_GTC=232,1605,2461;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182640.2:coding-synonymous-near-splice;ESP6500_GL=MRPS9;ESP6500_GRCh38_POSITION=2:105049350;ESP6500_GTC=334,2374,3791;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182640.2:c.315C>T;ESP6500_HGVS_PROTEIN_VAR=NM_182640.2:p.(D105);ESP6500_MAF=24.0693,22.1036,23.4036;ESP6500_TAC=3042,9956	GT:AD:DP:GQ:PL	0/1:12,4:16:97:97,0,323
chr2	105089049	rs11538198	C	T	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.283;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.192;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-2.294;SOR=0.513;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11538198;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|6/11|c.555C>T|p.Leu185Leu|623/1458|555/1191|185/396||;p3_1000G_AA=T|||;p3_1000G_AC=836;p3_1000G_AF=0.166933;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=14945;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105705507;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=639,3767;ESP6500_AA_AGE=759.9+/-412.9;ESP6500_AA_GTC=33,573,1597;ESP6500_CDS_SIZES=NM_182640.2:1191;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=87;ESP6500_EA_AC=2070,6526;ESP6500_EA_AGE=714.8+/-406.0;ESP6500_EA_GTC=231,1608,2459;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182640.2:coding-synonymous;ESP6500_GL=MRPS9;ESP6500_GRCh38_POSITION=2:105089049;ESP6500_GTC=264,2181,4056;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182640.2:c.555C>T;ESP6500_HGVS_PROTEIN_VAR=NM_182640.2:p.(L185);ESP6500_MAF=24.081,14.503,20.8353;ESP6500_TAC=2709,10293	GT:AD:DP:GQ:PL	0/1:16,15:31:99:331,0,375
chr2	105090126	rs147318136;rs375845879;rs768724357	AAAAAC	A	121.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.368;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5833126,rs375845879,rs147318136;dbSNPBuildID=134,144,138;ANN=A|intron_variant|MODIFIER|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|7/10|c.651+151_651+155delCAAAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,4:7:99:159,0,178
chr2	105091308	rs12620254	G	A	489.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.537;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.405;SOR=0.782;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12620254;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|7/10|c.652-1093G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=836;p3_1000G_AF=0.166933;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=16444;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105707766;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,22:36:99:518,0,345
chr2	105092565	rs6543282	T	C	663.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6543282;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|8/11|c.816T>C|p.Ser272Ser|884/1458|816/1191|272/396||,C|downstream_gene_variant|MODIFIER|UTAT33|UTAT33|transcript|NR_110227.1|pseudogene||n.*4487A>G|||||4487|;p3_1000G_AA=C|||;p3_1000G_AC=4927;p3_1000G_AF=0.983826;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=17423;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105709023;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4370,36;ESP6500_AA_AGE=40.8+/-73.8;ESP6500_AA_GTC=2167,36,0;ESP6500_CDS_SIZES=NM_182640.2:1191;ESP6500_CG=-2.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=100;ESP6500_EA_AC=8225,375;ESP6500_EA_AGE=122.0+/-181.0;ESP6500_EA_GTC=3936,353,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182640.2:coding-synonymous;ESP6500_GL=MRPS9;ESP6500_GRCh38_POSITION=2:105092565;ESP6500_GTC=6103,389,11;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_182640.2:c.816T>C;ESP6500_HGVS_PROTEIN_VAR=NM_182640.2:p.(S272);ESP6500_MAF=4.3605,0.8171,3.1601;ESP6500_TAC=12595,411	GT:AD:DP:GQ:PL	1/1:0,22:22:66:692,66,0
chr2	105092687	rs77811260	C	T	60.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.96;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77811260;dbSNPBuildID=131;ANN=T|downstream_gene_variant|MODIFIER|UTAT33|UTAT33|transcript|NR_110227.1|pseudogene||n.*4365G>A|||||4365|,T|intron_variant|MODIFIER|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|8/10|c.820+118C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=836;p3_1000G_AF=0.166933;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=15857;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105709145;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:89:89,0,90
chr2	105097239	rs15567	A	G	652.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.734;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs15567;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|10/11|c.1014A>G|p.Ser338Ser|1082/1458|1014/1191|338/396||,G|non_coding_transcript_exon_variant|MODIFIER|UTAT33|UTAT33|transcript|NR_110227.1|pseudogene|4/4|n.386T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=836;p3_1000G_AF=0.166933;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=17379;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105713697;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=645,3761;ESP6500_AA_AGE=766.3+/-413.4;ESP6500_AA_GTC=33,579,1591;ESP6500_CDS_SIZES=NM_182640.2:1191;ESP6500_CG=-4.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=98;ESP6500_EA_AC=2071,6529;ESP6500_EA_AGE=717.9+/-406.2;ESP6500_EA_GTC=230,1611,2459;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182640.2:coding-synonymous;ESP6500_GL=MRPS9;ESP6500_GRCh38_POSITION=2:105097239;ESP6500_GTC=263,2190,4050;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182640.2:c.1014A>G;ESP6500_HGVS_PROTEIN_VAR=NM_182640.2:p.(S338);ESP6500_MAF=24.0814,14.6391,20.8827;ESP6500_TAC=2716,10290	GT:AD:DP:GQ:PL	0/1:21,25:46:99:681,0,486
chr2	105099808	rs9066	A	G	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.71;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.736;SOR=2.419;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9066;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|MRPS9|MRPS9|transcript|NM_182640.2|protein_coding|11/11|c.*47A>G|||||47|,G|intron_variant|MODIFIER|UTAT33|UTAT33|transcript|NR_110227.1|pseudogene|1/3|n.110-508T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=833;p3_1000G_AF=0.166334;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=16330;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105716266;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=627,3779;ESP6500_AA_AGE=254.3+/-259.9;ESP6500_AA_GTC=30,567,1606;ESP6500_CDS_SIZES=NM_182640.2:1191;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=33;ESP6500_EA_AC=2065,6535;ESP6500_EA_AGE=337.1+/-322.1;ESP6500_EA_GTC=229,1607,2464;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182640.2:utr-3;ESP6500_GL=MRPS9;ESP6500_GRCh38_POSITION=2:105099808;ESP6500_GTC=259,2174,4070;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182640.2:c.*47A>G;ESP6500_MAF=24.0116,14.2306,20.6981;ESP6500_TAC=2692,10314	GT:AD:DP:GQ:PL	0/1:7,8:15:99:252,0,140
chr2	105269504	rs2241797	T	C	971.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=1.27;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241797;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|TGFBRAP1|TGFBRAP1|transcript|NM_001142621.2|protein_coding|11/12|c.2174A>G|p.His725Arg|2278/5680|2174/2583|725/860||,C|missense_variant|MODERATE|TGFBRAP1|TGFBRAP1|transcript|NM_001328646.1|protein_coding|11/12|c.2174A>G|p.His725Arg|2238/3460|2174/2475|725/824||,C|missense_variant|MODERATE|TGFBRAP1|TGFBRAP1|transcript|NM_004257.5|protein_coding|11/12|c.2174A>G|p.His725Arg|2281/5683|2174/2583|725/860||,C|non_coding_transcript_exon_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NR_137328.1|pseudogene|11/13|n.2223A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2519;p3_1000G_AF=0.502995;p3_1000G_AFR_AF=0.4697;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=16692;p3_1000G_EAS_AF=0.2827;p3_1000G_EUR_AF=0.66;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105885961;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2155,2251;ESP6500_AA_GTC=551,1053,599;ESP6500_CDS_SIZES=NM_004257.4:2583,NM_001142621.1:2583;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=28;ESP6500_EA_AC=5562,3036;ESP6500_EA_GTC=1787,1988,524;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004257.4:missense,NM_001142621.1:missense;ESP6500_GL=TGFBRAP1;ESP6500_GRCh38_POSITION=2:105269504;ESP6500_GS=29,29;ESP6500_GTC=2338,3041,1123;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004257.4:c.2174A>G,NM_001142621.1:c.2174A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004257.4:p.(H725R),NM_001142621.1:p.(H725R);ESP6500_MAF=35.3105,48.9106,40.6567;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7717,5287	GT:AD:DP:GQ:PL	0/1:23,36:59:99:1000,0,511
chr2	105269762	rs2241798	C	A	162.98	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.157;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.37;ReadPosRankSum=-0.157;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241798;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_001142621.2|protein_coding|10/11|c.1973-57G>T||||||,A|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_001328646.1|protein_coding|10/11|c.1973-57G>T||||||,A|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_004257.5|protein_coding|10/11|c.1973-57G>T||||||,A|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NR_137328.1|pseudogene|10/12|n.2022-57G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1358;p3_1000G_AF=0.271166;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=16208;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.1322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105886219;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,7:8:13:191,0,13
chr2	105272892	rs11676273	G	A	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.291;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-2.207;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11676273;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_001142621.2|protein_coding|10/12|c.1935C>T|p.Leu645Leu|2039/5680|1935/2583|645/860||,A|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_001328646.1|protein_coding|10/12|c.1935C>T|p.Leu645Leu|1999/3460|1935/2475|645/824||,A|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_004257.5|protein_coding|10/12|c.1935C>T|p.Leu645Leu|2042/5683|1935/2583|645/860||,A|non_coding_transcript_exon_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NR_137328.1|pseudogene|10/13|n.1984C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=582;p3_1000G_AF=0.116214;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=17007;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.2207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105889349;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=181,4225;ESP6500_AA_AGE=113.3+/-151.4;ESP6500_AA_GTC=2,177,2024;ESP6500_CDS_SIZES=NM_004257.4:2583,NM_001142621.1:2583;ESP6500_CG=-3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=40;ESP6500_EA_AC=1778,6822;ESP6500_EA_AGE=317.4+/-313.2;ESP6500_EA_GTC=173,1432,2695;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004257.4:coding-synonymous,NM_001142621.1:coding-synonymous;ESP6500_GL=TGFBRAP1;ESP6500_GRCh38_POSITION=2:105272892;ESP6500_GTC=175,1609,4719;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004257.4:c.1935C>T,NM_001142621.1:c.1935C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004257.4:p.(L645),NM_001142621.1:p.(L645);ESP6500_MAF=20.6744,4.108,15.0623;ESP6500_TAC=1959,11047	GT:AD:DP:GQ:PL	0/1:13,15:28:99:383,0,426
chr2	105280804	rs2679833	C	T	455.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2679833;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_001142621.2|protein_coding|5/11|c.1122-81G>A||||||,T|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_001328646.1|protein_coding|5/11|c.1122-81G>A||||||,T|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_004257.5|protein_coding|5/11|c.1122-81G>A||||||,T|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NR_137328.1|pseudogene|5/12|n.1171-81G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4943;p3_1000G_AF=0.987021;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=19925;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105897261;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:484,48,0
chr2	105298671	rs12476720	G	A	856.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.178;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.926;SOR=0.746;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12476720;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_001142621.2|protein_coding|3/12|c.723C>T|p.Arg241Arg|827/5680|723/2583|241/860||,A|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_001328646.1|protein_coding|3/12|c.723C>T|p.Arg241Arg|787/3460|723/2475|241/824||,A|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_004257.5|protein_coding|3/12|c.723C>T|p.Arg241Arg|830/5683|723/2583|241/860||,A|non_coding_transcript_exon_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NR_137328.1|pseudogene|3/13|n.772C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1489;p3_1000G_AF=0.297324;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=17354;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.1352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105915128;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1323,3083;ESP6500_AA_AGE=444.1+/-347.2;ESP6500_AA_GTC=208,907,1088;ESP6500_CDS_SIZES=NM_004257.4:2583,NM_001142621.1:2583;ESP6500_CG=-11.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=1171,7429;ESP6500_EA_AGE=239.2+/-270.4;ESP6500_EA_GTC=79,1013,3208;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004257.4:coding-synonymous,NM_001142621.1:coding-synonymous;ESP6500_GL=TGFBRAP1;ESP6500_GRCh38_POSITION=2:105298671;ESP6500_GTC=287,1920,4296;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004257.4:c.723C>T,NM_001142621.1:c.723C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004257.4:p.(R241),NM_001142621.1:p.(R241);ESP6500_MAF=13.6163,30.0272,19.1758;ESP6500_TAC=2494,10512	GT:AD:DP:GQ:PL	0/1:29,38:67:99:885,0,698
chr2	105307560	rs67600221	C	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.103;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.967;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67600221;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_001142621.2|protein_coding|2/11|c.688+54G>A||||||,T|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_001328646.1|protein_coding|2/11|c.688+54G>A||||||,T|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NM_004257.5|protein_coding|2/11|c.688+54G>A||||||,T|intron_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NR_137328.1|pseudogene|2/12|n.737+54G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=626;p3_1000G_AF=0.125;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=17887;p3_1000G_EAS_AF=0.0784;p3_1000G_EUR_AF=0.2366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105924017;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:178,0,258
chr2	105308053	rs2241801	A	G	716.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.119;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.67;SOR=0.567;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241801;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_001142621.2|protein_coding|2/12|c.249T>C|p.Arg83Arg|353/5680|249/2583|83/860||,G|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_001328646.1|protein_coding|2/12|c.249T>C|p.Arg83Arg|313/3460|249/2475|83/824||,G|synonymous_variant|LOW|TGFBRAP1|TGFBRAP1|transcript|NM_004257.5|protein_coding|2/12|c.249T>C|p.Arg83Arg|356/5683|249/2583|83/860||,G|non_coding_transcript_exon_variant|MODIFIER|TGFBRAP1|TGFBRAP1|transcript|NR_137328.1|pseudogene|2/13|n.298T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3184;p3_1000G_AF=0.635783;p3_1000G_AFR_AF=0.6815;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=18270;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.4871;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105924510;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6564;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2964,1442;ESP6500_AA_AGE=455.9+/-351.1;ESP6500_AA_GTC=1004,956,243;ESP6500_CDS_SIZES=NM_004257.4:2583,NM_001142621.1:2583;ESP6500_CG=-10.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=37;ESP6500_EA_AC=4253,4347;ESP6500_EA_AGE=564.7+/-388.4;ESP6500_EA_GTC=1064,2125,1111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004257.4:coding-synonymous,NM_001142621.1:coding-synonymous;ESP6500_GL=TGFBRAP1;ESP6500_GRCh38_POSITION=2:105308053;ESP6500_GTC=2068,3081,1354;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004257.4:c.249T>C,NM_001142621.1:c.249T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004257.4:p.(R83),NM_001142621.1:p.(R83);ESP6500_MAF=49.4535,32.7281,44.5102;ESP6500_TAC=7217,5789	GT:AD:DP:GQ:PL	0/1:28,28:56:99:745,0,769
chr2	105337481	rs3217439	G	GC	568.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.79;SOR=0.818;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3217439;dbSNPBuildID=106;ANN=GC|5_prime_UTR_variant|MODIFIER|C2orf49|C2orf49|transcript|NM_024093.2|protein_coding|1/4|c.-107_-106insC|||||106|,GC|5_prime_UTR_variant|MODIFIER|C2orf49|C2orf49|transcript|NM_001286537.1|protein_coding|1/5|c.-107_-106insC|||||106|;p3_1000G_AA=C|-|C|deletion;p3_1000G_AC=3860;p3_1000G_AF=0.770767;p3_1000G_AFR_AF=0.7247;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=11882;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105953938;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:606,45,0
chr2	105345246	rs2679842	G	A	12.05	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=-0.431;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2679842;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|C2orf49|C2orf49|transcript|NM_024093.2|protein_coding|3/3|c.643-69G>A||||||,A|intron_variant|MODIFIER|C2orf49|C2orf49|transcript|NM_001286537.1|protein_coding|4/4|c.517-69G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3181;p3_1000G_AF=0.635184;p3_1000G_AFR_AF=0.6815;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=16692;p3_1000G_EAS_AF=0.747;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105961703;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=957,427;ESP6500_AA_GTC=346,265,81;ESP6500_CDS_SIZES=NM_024093.1:699;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=54;ESP6500_EA_AC=1555,1621;ESP6500_EA_GTC=384,787,417;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024093.1:intron;ESP6500_GL=C2orf49;ESP6500_GRCh38_POSITION=2:105345246;ESP6500_GTC=730,1052,498;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024093.1:c.643-69G>A;ESP6500_MAF=48.961,30.8526,44.9123;ESP6500_TAC=2512,2048	GT:AD:DP:GQ:PL	0/1:1,2:3:35:40,0,35
chr2	105361446	rs2244182;48329	G	C	593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.462;SOR=0.796;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2244182;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001039492.2|protein_coding|6/6|c.689-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318896.1|protein_coding|5/5|c.689-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318899.1|protein_coding|7/7|c.365-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318895.1|protein_coding|6/6|c.689-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318898.1|protein_coding|5/5|c.347-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001450.3|protein_coding|5/5|c.689-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_201555.1|protein_coding|7/7|c.689-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318894.1|protein_coding|5/5|c.689-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318897.1|protein_coding|4/4|c.347-12C>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_201557.3|protein_coding|5/5|c.689-12C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1530;p3_1000G_AF=0.305511;p3_1000G_AFR_AF=0.3548;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=21056;p3_1000G_EAS_AF=0.5367;p3_1000G_EUR_AF=0.1362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=105977903;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1471,2935;ESP6500_AA_AGE=472.8+/-356.5;ESP6500_AA_GTC=266,939,998;ESP6500_CDS_SIZES=NM_201557.3:840,NM_201555.1:840,NM_001450.3:840,NM_001039492.2:840;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=1173,7427;ESP6500_EA_AGE=238.9+/-270.2;ESP6500_EA_GTC=81,1011,3208;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201557.3:intron,NM_201555.1:intron,NM_001450.3:intron,NM_001039492.2:intron;ESP6500_GL=FHL2;ESP6500_GRCh38_POSITION=2:105361446;ESP6500_GTC=347,1950,4206;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_201557.3:c.689-12C>G,NM_201555.1:c.689-12C>G,NM_001450.3:c.689-12C>G,NM_001039492.2:c.689-12C>G;ESP6500_MAF=13.6395,33.3863,20.3291;ESP6500_TAC=2644,10362;CLINVAR_AF_ESP=0.2033;CLINVAR_AF_EXAC=0.20716;CLINVAR_AF_TGP=0.3055;CLINVAR_ALLELEID=57491;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.105361446G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=FHL2:2274;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2244182	GT:AD:DP:GQ:PL	0/1:25,21:46:99:622,0,706
chr2	105396759	rs11891016	T	C	583.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.896;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=3.27;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.789;SOR=0.278;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11891016;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001039492.2|protein_coding|1/6|c.-75-62A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318896.1|protein_coding|1/5|c.-25+2211A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318899.1|protein_coding|1/7|c.-521-62A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318895.1|protein_coding|1/6|c.-75-62A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318898.1|protein_coding|1/5|c.-242-62A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001450.3|protein_coding|1/5|c.-25+2083A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_201555.1|protein_coding|1/7|c.-196-62A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318894.1|protein_coding|1/5|c.-25+2463A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318897.1|protein_coding|1/4|c.-191-10219A>G||||||,C|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_201557.3|protein_coding|1/5|c.-24-10219A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3510;p3_1000G_AF=0.700879;p3_1000G_AFR_AF=0.7791;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=21054;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106013216;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,23:40:99:612,0,422
chr2	105396791	rs11884297	C	T	378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.459;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-1.889;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11884297;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001039492.2|protein_coding|1/6|c.-75-94G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318896.1|protein_coding|1/5|c.-25+2179G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318899.1|protein_coding|1/7|c.-521-94G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318895.1|protein_coding|1/6|c.-75-94G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318898.1|protein_coding|1/5|c.-242-94G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001450.3|protein_coding|1/5|c.-25+2051G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_201555.1|protein_coding|1/7|c.-196-94G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318894.1|protein_coding|1/5|c.-25+2431G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_001318897.1|protein_coding|1/4|c.-191-10251G>A||||||,T|intron_variant|MODIFIER|FHL2|FHL2|transcript|NM_201557.3|protein_coding|1/5|c.-24-10251G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1842;p3_1000G_AF=0.367812;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=20016;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.3867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106013248;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:407,0,364
chr2	105855369	rs3832068;rs397754933	C	CA	368.74	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.403;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=20.49;ReadPosRankSum=-1.351;SOR=2.093;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3832068;dbSNPBuildID=107,138;ANN=CA|intron_variant|MODIFIER|NCK2|NCK2|transcript|NM_001004720.2|protein_coding|2/3|c.226+92dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|NCK2|NCK2|transcript|NM_001004722.3|protein_coding|3/3|c.226+92dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|NCK2|NCK2|transcript|NM_003581.4|protein_coding|3/4|c.226+92dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2955;p3_1000G_AF=0.590056;p3_1000G_AFR_AF=0.5212;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=19884;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.5586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106471825;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,17:18:27:406,27,0
chr2	106065861	rs17032271	A	G	322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.122;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.309;SOR=0.7;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17032271;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|C2orf40|C2orf40|transcript|NM_032411.2|protein_coding|1/3|c.79+18A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=340;p3_1000G_AF=0.0678914;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=12815;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106682317;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=30,3798;ESP6500_AA_GTC=0,30,1884;ESP6500_CDS_SIZES=NM_032411.2:447;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=4;ESP6500_EA_AC=252,7498;ESP6500_EA_GTC=2,248,3625;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032411.2:intron;ESP6500_GL=C2orf40;ESP6500_GRCh38_POSITION=2:106065861;ESP6500_GTC=2,278,5509;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032411.2:c.79+18A>G;ESP6500_MAF=3.2516,0.7837,2.4357;ESP6500_TAC=282,11296	GT:AD:DP:GQ:PL	0/1:6,14:20:99:351,0,117
chr2	106094212	rs11268588	C	CGCAGGAAGGAAGTGCCACCTT	237.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=-1.915;SOR=2.584;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11268588,rs76407049;dbSNPBuildID=135;ANN=CGCAGGAAGGAAGTGCCACCTT|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|14/14|c.1147-76_1147-56dupAAGGTGGCACTTCCTTCCTGC||||||,CGCAGGAAGGAAGTGCCACCTT|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253876.1|protein_coding|9/9|c.628-76_628-56dupAAGGTGGCACTTCCTTCCTGC||||||,CGCAGGAAGGAAGTGCCACCTT|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|14/14|c.1132-76_1132-56dupAAGGTGGCACTTCCTTCCTGC||||||,CGCAGGAAGGAAGTGCCACCTT|intron_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|13/13|n.1181-76_1181-56dupAAGGTGGCACTTCCTTCCTGC||||||;p3_1000G_AC=2898;p3_1000G_AF=0.578674;p3_1000G_AFR_AF=0.584;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=21560;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.6541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106710668;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,7:9:99:275,0,299
chr2	106098886	rs3820891	G	A	702.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820891;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|12/14|c.985-113C>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253876.1|protein_coding|7/9|c.466-113C>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|12/14|c.970-113C>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|11/13|n.1019-113C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4229;p3_1000G_AF=0.844449;p3_1000G_AFR_AF=0.8752;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=19084;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.8419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106715342;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:731,66,0
chr2	106101200	rs10177888	G	A	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.88;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.852;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10177888;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|11/14|c.924-82C>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253876.1|protein_coding|6/9|c.405-82C>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|11/14|c.909-82C>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|10/13|n.958-82C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3590;p3_1000G_AF=0.716853;p3_1000G_AFR_AF=0.7572;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=17484;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106717656;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:157,0,187
chr2	106125683	rs4851925	C	T	661.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.47;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4851925;dbSNPBuildID=111;ANN=T|splice_region_variant&intron_variant|LOW|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|7/14|c.578-4G>A||||||,T|splice_region_variant&intron_variant|LOW|UXS1|UXS1|transcript|NM_001253876.1|protein_coding|2/9|c.59-4G>A||||||,T|splice_region_variant&intron_variant|LOW|UXS1|UXS1|transcript|NM_025076.4|protein_coding|7/14|c.563-4G>A||||||,T|splice_region_variant&intron_variant|LOW|UXS1|UXS1|transcript|NR_045607.1|pseudogene|6/13|n.612-4G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4822;p3_1000G_AF=0.962859;p3_1000G_AFR_AF=0.8654;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19732;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106742139;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3369,425;ESP6500_AA_GTC=1487,395,15;ESP6500_CDS_SIZES=NM_025076.4:1263,NM_001253876.1:759,NM_001253875.1:1278;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=51;ESP6500_EA_AC=8204,16;ESP6500_EA_GTC=4094,16,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025076.4:intron,NM_001253876.1:intron,NM_001253875.1:intron;ESP6500_GL=UXS1;ESP6500_GRCh38_POSITION=2:106125683;ESP6500_GTC=5581,411,15;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025076.4:c.563-4G>A,NM_001253876.1:c.59-4G>A,NM_001253875.1:c.578-4G>A;ESP6500_MAF=0.1946,11.2019,3.6707;ESP6500_TAC=11573,441	GT:AD:DP:GQ:PL	1/1:0,25:25:75:690,75,0
chr2	106125721	rs3739137	T	A	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.513;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-0.973;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739137;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|7/14|c.578-42A>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253876.1|protein_coding|2/9|c.59-42A>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|7/14|c.563-42A>T||||||,A|intron_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|6/13|n.612-42A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3772;p3_1000G_AF=0.753195;p3_1000G_AFR_AF=0.6831;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=20724;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106742177;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2694,1038;ESP6500_AA_GTC=982,730,154;ESP6500_CDS_SIZES=NM_025076.4:1263,NM_001253876.1:759,NM_001253875.1:1278;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=39;ESP6500_EA_AC=7583,581;ESP6500_EA_GTC=3531,521,30;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025076.4:intron,NM_001253876.1:intron,NM_001253875.1:intron;ESP6500_GL=UXS1;ESP6500_GRCh38_POSITION=2:106125721;ESP6500_GTC=4513,1251,184;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_025076.4:c.563-42A>T,NM_001253876.1:c.59-42A>T,NM_001253875.1:c.578-42A>T;ESP6500_MAF=7.1166,27.8135,13.6096;ESP6500_TAC=10277,1619	GT:AD:DP:GQ:PL	0/1:10,10:20:99:216,0,229
chr2	106163559	rs3910716	C	T	437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3910716;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|4/14|c.230+108G>A||||||,T|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|4/14|c.215+108G>A||||||,T|intron_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|3/13|n.264+108G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4854;p3_1000G_AF=0.969249;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=19114;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106780015;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:466,42,0
chr2	106163599	rs10631203;~rs33940045	C	CTG	997.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=1.426;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10631203;dbSNPBuildID=126;ANN=CTG|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|4/14|c.230+67_230+68insCA||||||,CTG|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|4/14|c.215+67_215+68insCA||||||,CTG|intron_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|3/13|n.264+67_264+68insCA||||||;ESP6500_AA_AC=2578,192;ESP6500_AA_GTC=1218,142,25;ESP6500_CDS_SIZES=NM_025076.4:1263,NM_001253875.1:1278;ESP6500_CG=-1.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=40;ESP6500_EA_AC=6116,20;ESP6500_EA_GTC=3050,16,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025076.4:intron,NM_001253875.1:intron;ESP6500_GL=UXS1;ESP6500_GRCh38_POSITION=2:106163599;ESP6500_GTC=4268,158,27;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025076.4:c.215+67_215+68insCA,NM_001253875.1:c.230+67_230+68insCA;ESP6500_MAF=0.3259,6.9314,2.3804;ESP6500_TAC=8694,212	GT:AD:DP:GQ:PL	1/1:0,23:23:69:1035,69,0
chr2	106165942	rs4851115	C	G	486.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.45;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4851115;dbSNPBuildID=111;ANN=G|sequence_feature|LOW|UXS1|UXS1|topological-domain:Lumenal|NM_025076.4|protein_coding|2/14|c.122+114G>C||||||,G|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|2/14|c.122+114G>C||||||,G|intron_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|2/14|c.122+114G>C||||||,G|intron_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|2/13|n.220+114G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4882;p3_1000G_AF=0.97484;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16540;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106782398;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:515,45,0
chr2	106194271	rs7604916	A	G	595.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7604916;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|1/15|c.-30T>C|||||30|,G|5_prime_UTR_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|1/15|c.-30T>C|||||30|,G|non_coding_transcript_exon_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|1/14|n.69T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=4623;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106810727;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1731,113;ESP6500_AA_GTC=810,111,1;ESP6500_CDS_SIZES=NM_025076.4:1263,NM_001253875.1:1278;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=4;ESP6500_EA_AC=4086,4;ESP6500_EA_GTC=2041,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025076.4:utr-5,NM_001253875.1:utr-5;ESP6500_GL=UXS1;ESP6500_GRCh38_POSITION=2:106194271;ESP6500_GTC=2851,115,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_025076.4:c.-30T>C,NM_001253875.1:c.-30T>C;ESP6500_MAF=0.0978,6.128,1.9717;ESP6500_TAC=5817,117	GT:AD:DP:GQ:PL	1/1:0,19:19:57:624,57,0
chr2	106194311	rs78870678	G	T	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0;SOR=2.209;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78870678;dbSNPBuildID=131;ANN=T|5_prime_UTR_variant|MODIFIER|UXS1|UXS1|transcript|NM_001253875.1|protein_coding|1/15|c.-70C>A|||||70|,T|5_prime_UTR_variant|MODIFIER|UXS1|UXS1|transcript|NM_025076.4|protein_coding|1/15|c.-70C>A|||||70|,T|non_coding_transcript_exon_variant|MODIFIER|UXS1|UXS1|transcript|NR_045607.1|pseudogene|1/14|n.29C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=866;p3_1000G_AF=0.172923;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=4145;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106810767;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:61:61,0,73
chr2	106372359	rs6735958	A	G	227.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=34.51;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs144195123;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|UXS1-PLGLA|UXS1-PLGLA|intergenic_region|UXS1-PLGLA|||n.106372359A>G||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:18:256,18,0
chr2	106377926	rs2378043	A	G	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=51.87;MQRankSum=0.674;QD=9.55;ReadPosRankSum=0.842;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62145217;dbSNPBuildID=123;ANN=G|upstream_gene_variant|MODIFIER|PLGLA|PLGLA|transcript|NR_003506.3|pseudogene||n.-4188A>G|||||4188|,G|intergenic_region|MODIFIER|UXS1-PLGLA|UXS1-PLGLA|intergenic_region|UXS1-PLGLA|||n.106377926A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=3477;p3_1000G_AF=0.694289;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs62145217;p3_1000G_DP=16519;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.7485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=106994382;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:47:76,0,47
chr2	106377999	rs62145218	C	T	30.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.59;MQRankSum=1.04;QD=6.15;ReadPosRankSum=-0.674;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62145218;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|PLGLA|PLGLA|transcript|NR_003506.3|pseudogene||n.-4115C>T|||||4115|,T|intergenic_region|MODIFIER|UXS1-PLGLA|UXS1-PLGLA|intergenic_region|UXS1-PLGLA|||n.106377999C>T||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:59:59,0,78
chr2	106378012	rs4280451	A	G	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.59;MQRankSum=1.04;QD=6.95;ReadPosRankSum=-0.842;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4280451;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|PLGLA|PLGLA|transcript|NR_003506.3|pseudogene||n.-4102A>G|||||4102|,G|intergenic_region|MODIFIER|UXS1-PLGLA|UXS1-PLGLA|intergenic_region|UXS1-PLGLA|||n.106378012A>G||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:63:63,0,72
chr2	106391011	rs7575679	G	A	926.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.25;QD=29.9;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7575679;dbSNPBuildID=116;ANN=A|non_coding_transcript_exon_variant|MODIFIER|PLGLA|PLGLA|transcript|NR_003506.3|pseudogene|4/4|n.457G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1467;p3_1000G_AF=0.292931;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=21059;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107007467;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:955,93,0
chr2	106415823	rs6543411	T	C	1475.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.3;QD=30.75;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6543411;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|21/22|c.5064+27A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=4361;p3_1000G_AF=0.870807;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=13088;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.7962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107032279;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1504,143,0
chr2	106415961	rs9653483	A	G	770.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.976;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=6.937;MLEAC=1;MLEAF=0.5;MQ=52.18;MQRankSum=-4.792;QD=15.11;ReadPosRankSum=-1.417;SOR=0.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9653483;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|21/23|c.4953T>C|p.Thr1651Thr|5010/5873|4953/5277|1651/1758||	GT:AD:DP:GQ:PL	0/1:18,33:51:99:799,0,471
chr2	106423361	rs201174004	G	A	248.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.662;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=4.495;MLEAC=1;MLEAF=0.5;MQ=30.17;MQRankSum=0.669;QD=3;ReadPosRankSum=-0.314;SOR=0.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201174004;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|20/23|c.4606C>T|p.Pro1536Ser|4663/5873|4606/5277|1536/1758||;p3_1000G_AA=.|||;p3_1000G_AC=1321;p3_1000G_AF=0.263778;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=26856;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.1083;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107039817;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:64,19:83:99:277,0,1574
chr2	106423916	rs3974054	C	G	1854.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.307;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.62;MQRankSum=0.679;QD=14.6;ReadPosRankSum=-0.85;SOR=0.678;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200719868;dbSNPBuildID=113;ANN=G|missense_variant|MODERATE|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|20/23|c.4051G>C|p.Glu1351Gln|4108/5873|4051/5277|1351/1758||;p3_1000G_AA=.|||;p3_1000G_AC=543;p3_1000G_AF=0.108427;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200719868;p3_1000G_DP=20531;p3_1000G_EAS_AF=0.1071;p3_1000G_EUR_AF=0.0755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107040372;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:56,71:127:99:1883,0,1429
chr2	106424116	rs2557900	T	C	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=7.5;ClippingRankSum=0;DP=132;ExcessHet=3.0103;FS=7.424;MLEAC=1;MLEAF=0.5;MQ=50.08;MQRankSum=-8.001;QD=2.79;ReadPosRankSum=-1.513;SOR=1.522;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200203656;dbSNPBuildID=114;ANN=C|missense_variant|MODERATE|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|20/23|c.3851A>G|p.His1284Arg|3908/5873|3851/5277|1284/1758||	GT:AD:DP:GQ:PL	0/1:107,25:132:99:396,0,2783
chr2	106424529	rs11885810	T	C	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.62;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=20.518;MLEAC=1;MLEAF=0.5;MQ=43.91;MQRankSum=-4.367;QD=4.06;ReadPosRankSum=-0.545;SOR=3.767;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140856347;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|20/23|c.3438A>G|p.Arg1146Arg|3495/5873|3438/5277|1146/1758||;p3_1000G_AA=.|||;p3_1000G_AC=1440;p3_1000G_AF=0.28754;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs140856347;p3_1000G_DP=15088;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.16;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107040985;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:46,13:59:99:268,0,1242
chr2	106429594	.	G	T	12.07	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=23.17;MQRankSum=-0.967;QD=4.02;ReadPosRankSum=-0.967;SOR=0.223;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|18/22|c.2605+52C>A||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:23:40,0,23
chr2	106433148	rs200768799	T	C	448.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=3.855;MLEAC=1;MLEAF=0.5;MQ=38.8;MQRankSum=-2.411;QD=8.47;ReadPosRankSum=-0.936;SOR=0.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200768799;dbSNPBuildID=137;ANN=C|synonymous_variant|LOW|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|16/23|c.2343A>G|p.Pro781Pro|2400/5873|2343/5277|781/1758||	GT:AD:DP:GQ:PL	0/1:30,23:53:99:477,0,616
chr2	106457013	rs62152528	T	A	272.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.7;QD=24.8;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76857936;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|4/23|c.363A>T|p.Ala121Ala|420/5873|363/5277|121/1758||	GT:AD:DP:GQ:PL	1/1:0,11:11:33:301,33,0
chr2	106457045	rs62152530	C	T	330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.63;QD=23.63;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72627454;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|4/23|c.331G>A|p.Asp111Asn|388/5873|331/5277|111/1758||	GT:AD:DP:GQ:PL	1/1:0,14:14:42:359,42,0
chr2	106459183	rs2556203	T	C	170.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.93;QD=28.47;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200459166;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|2/22|c.140+82A>G||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:18:199,18,0
chr2	106468283	rs6718521	A	G	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.996;SOR=0.411;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6718521;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|1/23|c.6T>C|p.Ser2Ser|63/5873|6/5277|2/1758||;p3_1000G_AA=.|||;p3_1000G_AC=2209;p3_1000G_AF=0.441094;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=12001;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.2952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107084739;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,27:49:99:755,0,525
chr2	106468334	rs185187441	C	T	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.357;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=15.289;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.449;SOR=0.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs185187441;dbSNPBuildID=135;ANN=T|5_prime_UTR_variant|MODIFIER|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding|1/23|c.-46G>A|||||46|;p3_1000G_AA=.|||;p3_1000G_AC=145;p3_1000G_AF=0.0289537;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=12076;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107084790;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4,1380;ESP6500_AA_GTC=0,4,688;ESP6500_CDS_SIZES=NM_001144013.1:5277;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_135;ESP6500_DP=53;ESP6500_EA_AC=7,3175;ESP6500_EA_GTC=0,7,1584;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001144013.1:utr-5;ESP6500_GL=RGPD3;ESP6500_GRCh38_POSITION=2:106468334;ESP6500_GTC=0,11,2272;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001144013.1:c.-46G>A;ESP6500_MAF=0.22,0.289,0.2409;ESP6500_TAC=11,4555	GT:AD:DP:GQ:PL	0/1:16,18:34:99:422,0,545
chr2	106468389	rs11893526	G	C	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.143;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=5.898;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.318;SOR=2.461;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11893526;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|RGPD3|RGPD3|transcript|NM_001144013.1|protein_coding||c.-101C>G|||||44|,C|intergenic_region|MODIFIER|RGPD3-ST6GAL2|RGPD3-ST6GAL2|intergenic_region|RGPD3-ST6GAL2|||n.106468389G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1344;p3_1000G_AF=0.268371;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=13168;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.0974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107084845;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:230,0,398
chr2	106491055	rs11124115	C	T	3375.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.54;QD=31.85;SOR=1.189;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11124115;dbSNPBuildID=120;ANN=T|intergenic_region|MODIFIER|RGPD3-ST6GAL2|RGPD3-ST6GAL2|intergenic_region|RGPD3-ST6GAL2|||n.106491055C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1772;p3_1000G_AF=0.353834;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=21141;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107107511;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3404,318,0
chr2	106491111	rs2228021	G	C	4549.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=140;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.33;QD=32.5;SOR=0.877;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228021;dbSNPBuildID=98;ANN=C|intergenic_region|MODIFIER|RGPD3-ST6GAL2|RGPD3-ST6GAL2|intergenic_region|RGPD3-ST6GAL2|||n.106491111G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3673;p3_1000G_AF=0.733427;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=21896;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.6481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107107567;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,140:140:99:4578,421,0
chr2	106491238	rs6543414	A	G	4812.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=144;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.44;QD=33.42;SOR=1.117;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6543414;dbSNPBuildID=116;ANN=G|intergenic_region|MODIFIER|RGPD3-ST6GAL2|RGPD3-ST6GAL2|intergenic_region|RGPD3-ST6GAL2|||n.106491238A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4935;p3_1000G_AF=0.985423;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16656;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107107694;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,144:144:99:4841,432,0
chr2	106491309	rs6543415	C	A	3116.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.52;QD=32.81;SOR=2.327;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6543415;dbSNPBuildID=116;ANN=A|intergenic_region|MODIFIER|RGPD3-ST6GAL2|RGPD3-ST6GAL2|intergenic_region|RGPD3-ST6GAL2|||n.106491309C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4932;p3_1000G_AF=0.984824;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18504;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107107765;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3145,285,0
chr2	106496418	rs6734823	T	C	220.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.16;QD=31.54;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6734823;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|RGPD3-ST6GAL2|RGPD3-ST6GAL2|intergenic_region|RGPD3-ST6GAL2|||n.106496418T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4962;p3_1000G_AF=0.990815;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=14668;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107112874;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:249,21,0
chr2	106502440	rs4340514	T	C	336.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.8;QD=28.06;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4340514;dbSNPBuildID=111;ANN=C|intergenic_region|MODIFIER|RGPD3-ST6GAL2|RGPD3-ST6GAL2|intergenic_region|RGPD3-ST6GAL2|||n.106502440T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4848;p3_1000G_AF=0.968051;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=15441;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107118896;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:365,36,0
chr2	106504584	rs146000492	T	TA	794.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.59;QD=26.49;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs66585906,rs146000492;dbSNPBuildID=134;ANN=TA|intergenic_region|MODIFIER|RGPD3-ST6GAL2|RGPD3-ST6GAL2|intergenic_region|RGPD3-ST6GAL2|||n.106504584_106504585insA||||||;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=4568;p3_1000G_AF=0.912141;p3_1000G_AFR_AF=0.8411;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=14064;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.9751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107121040;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,30:30:90:832,90,0
chr2	106832532	rs12623034	C	T	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.372;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.026;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12623034;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ST6GAL2|ST6GAL2|transcript|NM_001142351.1|protein_coding|4/5|c.1143+33G>A||||||,T|intron_variant|MODIFIER|ST6GAL2|ST6GAL2|transcript|NR_136313.1|pseudogene|3/4|n.347+33G>A||||||,T|intron_variant|MODIFIER|ST6GAL2|ST6GAL2|transcript|NM_001322362.1|protein_coding|4/5|c.1143+33G>A||||||,T|intron_variant|MODIFIER|ST6GAL2|ST6GAL2|transcript|NM_032528.2|protein_coding|4/5|c.1143+33G>A||||||,T|intron_variant|MODIFIER|ST6GAL2|ST6GAL2|transcript|NM_001142352.1|protein_coding|4/5|c.1143+33G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=913;p3_1000G_AF=0.182308;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=17134;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107448988;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=81,4325;ESP6500_AA_AGE=69.8+/-107.6;ESP6500_AA_GTC=0,81,2122;ESP6500_CDS_SIZES=NM_032528.2:1590,NM_001142352.1:1401,NM_001142351.1:1590;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=48;ESP6500_EA_AC=685,7915;ESP6500_EA_AGE=171.0+/-222.0;ESP6500_EA_GTC=20,645,3635;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032528.2:intron,NM_001142352.1:intron,NM_001142351.1:intron;ESP6500_GL=ST6GAL2;ESP6500_GRCh38_POSITION=2:106832532;ESP6500_GTC=20,726,5757;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032528.2:c.1143+33G>A,NM_001142352.1:c.1143+33G>A,NM_001142351.1:c.1143+33G>A;ESP6500_MAF=7.9651,1.8384,5.8896;ESP6500_TAC=766,12240	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,6:13:99:0|1:106832532_C_T:206,0,213
chr2	106834069	rs12615112	T	C	762.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.747;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.55;SOR=0.803;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12615112;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ST6GAL2|ST6GAL2|transcript|NM_001142351.1|protein_coding|3/6|c.1021A>G|p.Ile341Val|1140/6787|1021/1590|341/529||,C|missense_variant|MODERATE|ST6GAL2|ST6GAL2|transcript|NM_001322362.1|protein_coding|3/6|c.1021A>G|p.Ile341Val|1189/6836|1021/1590|341/529||,C|missense_variant|MODERATE|ST6GAL2|ST6GAL2|transcript|NM_032528.2|protein_coding|3/6|c.1021A>G|p.Ile341Val|1210/6857|1021/1590|341/529||,C|missense_variant|MODERATE|ST6GAL2|ST6GAL2|transcript|NM_001142352.1|protein_coding|3/6|c.1021A>G|p.Ile341Val|1210/1656|1021/1401|341/466||,C|non_coding_transcript_exon_variant|MODIFIER|ST6GAL2|ST6GAL2|transcript|NR_136313.1|pseudogene|2/5|n.225A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1280;p3_1000G_AF=0.255591;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=16802;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.0775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107450525;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=998,3408;ESP6500_AA_AGE=730.9+/-410.2;ESP6500_AA_GTC=110,778,1315;ESP6500_CDS_SIZES=NM_032528.2:1590,NM_001142352.1:1401,NM_001142351.1:1590;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=216;ESP6500_EA_AC=778,7822;ESP6500_EA_AGE=783.8+/-407.6;ESP6500_EA_GTC=23,732,3545;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032528.2:missense,NM_001142352.1:missense,NM_001142351.1:missense;ESP6500_GL=ST6GAL2;ESP6500_GRCh38_POSITION=2:106834069;ESP6500_GS=29,29,29;ESP6500_GTC=133,1510,4860;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032528.2:c.1021A>G,NM_001142352.1:c.1021A>G,NM_001142351.1:c.1021A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032528.2:p.(I341V),NM_001142352.1:p.(I341V),NM_001142351.1:p.(I341V);ESP6500_MAF=9.0465,22.6509,13.6552;ESP6500_PH=benign:0.007,benign:0.007,benign:0.007;ESP6500_TAC=1776,11230	GT:AD:DP:GQ:PL	0/1:18,31:49:99:791,0,370
chr2	106834133	rs3796111	C	T	600.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.419;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.042;SOR=0.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796111;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|ST6GAL2|ST6GAL2|transcript|NM_001142351.1|protein_coding|3/6|c.957G>A|p.Ala319Ala|1076/6787|957/1590|319/529||,T|synonymous_variant|LOW|ST6GAL2|ST6GAL2|transcript|NM_001322362.1|protein_coding|3/6|c.957G>A|p.Ala319Ala|1125/6836|957/1590|319/529||,T|synonymous_variant|LOW|ST6GAL2|ST6GAL2|transcript|NM_032528.2|protein_coding|3/6|c.957G>A|p.Ala319Ala|1146/6857|957/1590|319/529||,T|synonymous_variant|LOW|ST6GAL2|ST6GAL2|transcript|NM_001142352.1|protein_coding|3/6|c.957G>A|p.Ala319Ala|1146/1656|957/1401|319/466||,T|non_coding_transcript_exon_variant|MODIFIER|ST6GAL2|ST6GAL2|transcript|NR_136313.1|pseudogene|2/5|n.161G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1859;p3_1000G_AF=0.371206;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=18189;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.1759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=107450589;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1677,2729;ESP6500_AA_AGE=655.6+/-399.9;ESP6500_AA_GTC=309,1059,835;ESP6500_CDS_SIZES=NM_032528.2:1590,NM_001142352.1:1401,NM_001142351.1:1590;ESP6500_CG=-0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=152;ESP6500_EA_AC=1378,7222;ESP6500_EA_AGE=754.8+/-407.5;ESP6500_EA_GTC=89,1200,3011;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032528.2:coding-synonymous,NM_001142352.1:coding-synonymous,NM_001142351.1:coding-synonymous;ESP6500_GL=ST6GAL2;ESP6500_GRCh38_POSITION=2:106834133;ESP6500_GTC=398,2259,3846;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032528.2:c.957G>A,NM_001142352.1:c.957G>A,NM_001142351.1:c.957G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032528.2:p.(A319),NM_001142352.1:p.(A319),NM_001142351.1:p.(A319);ESP6500_MAF=16.0233,38.0617,23.4892;ESP6500_TAC=3055,9951	GT:AD:DP:GQ:PL	0/1:19,25:44:99:629,0,453
chr2	108002058	rs3731684;261429	C	T	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.989;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-1.382;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731684;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SLC5A7|SLC5A7|transcript|NM_001305005.2|protein_coding|6/8|c.741+18C>T||||||,T|intron_variant|MODIFIER|SLC5A7|SLC5A7|transcript|NM_001305006.2|protein_coding|5/7|c.426+18C>T||||||,T|intron_variant|MODIFIER|SLC5A7|SLC5A7|transcript|NM_001305007.2|protein_coding|6/8|c.-1+18C>T||||||,T|intron_variant|MODIFIER|SLC5A7|SLC5A7|transcript|NM_021815.4|protein_coding|6/8|c.741+18C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=722;p3_1000G_AF=0.144169;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=20341;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.1034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108618514;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0286;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=801,3605;ESP6500_AA_AGE=311.4+/-292.0;ESP6500_AA_GTC=76,649,1478;ESP6500_CDS_SIZES=NM_021815.2:1743;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=158;ESP6500_EA_AC=826,7774;ESP6500_EA_AGE=183.6+/-231.8;ESP6500_EA_GTC=39,748,3513;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021815.2:intron;ESP6500_GL=SLC5A7;ESP6500_GRCh38_POSITION=2:108002058;ESP6500_GTC=115,1397,4991;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021815.2:c.741+18C>T;ESP6500_MAF=9.6047,18.1798,12.5096;ESP6500_TAC=1627,11379;CLINVAR_AF_ESP=0.1251;CLINVAR_AF_EXAC=0.11280;CLINVAR_AF_TGP=0.1442;CLINVAR_ALLELEID=250079;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.108002058C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SLC5A7:60482;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3731684	GT:AD:DP:GQ:PL	0/1:9,12:21:99:336,0,283
chr2	108002084	rs3731683	G	A	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.099;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-1.187;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731683;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SLC5A7|SLC5A7|transcript|NM_001305005.2|protein_coding|6/8|c.741+44G>A||||||,A|intron_variant|MODIFIER|SLC5A7|SLC5A7|transcript|NM_001305006.2|protein_coding|5/7|c.426+44G>A||||||,A|intron_variant|MODIFIER|SLC5A7|SLC5A7|transcript|NM_001305007.2|protein_coding|6/8|c.-1+44G>A||||||,A|intron_variant|MODIFIER|SLC5A7|SLC5A7|transcript|NM_021815.4|protein_coding|6/8|c.741+44G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1983;p3_1000G_AF=0.395966;p3_1000G_AFR_AF=0.6014;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=20835;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.3827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108618540;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2492,1914;ESP6500_AA_AGE=527.9+/-372.3;ESP6500_AA_GTC=714,1064,425;ESP6500_CDS_SIZES=NM_021815.2:1743;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=99;ESP6500_EA_AC=2980,5620;ESP6500_EA_AGE=655.1+/-401.2;ESP6500_EA_GTC=519,1942,1839;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021815.2:intron;ESP6500_GL=SLC5A7;ESP6500_GRCh38_POSITION=2:108002084;ESP6500_GTC=1233,3006,2264;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021815.2:c.741+44G>A;ESP6500_MAF=34.6512,43.4408,42.0729;ESP6500_TAC=5472,7534	GT:AD:DP:GQ:PL	0/1:8,7:15:99:186,0,214
chr2	108247194	rs9646947	A	C	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.6;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9646947;dbSNPBuildID=119;ANN=C|5_prime_UTR_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|2/8|c.-1A>C|||||1|,C|5_prime_UTR_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|2/8|c.-1A>C|||||1|;p3_1000G_AA=.|||;p3_1000G_AC=1077;p3_1000G_AF=0.215056;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=16946;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.3588;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108863650;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=357,4049;ESP6500_AA_AGE=165.4+/-196.9;ESP6500_AA_GTC=13,331,1859;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=64;ESP6500_EA_AC=2946,5654;ESP6500_EA_AGE=426.7+/-355.4;ESP6500_EA_GTC=508,1930,1862;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=2:108247194;ESP6500_GTC=521,2261,3721;ESP6500_GTS=CC,CA,AA;ESP6500_MAF=34.2558,8.1026,25.396;ESP6500_TAC=3303,9703	GT:AD:DP:GQ:PL	0/1:7,5:12:99:168,0,168
chr2	108247311	rs9308806	A	C	838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9308806;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|2/8|c.117A>C|p.Val39Val|216/1014|117/915|39/304||,C|synonymous_variant|LOW|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|2/8|c.117A>C|p.Val39Val|216/1220|117/915|39/304||;p3_1000G_AA=.|||;p3_1000G_AC=4240;p3_1000G_AF=0.846645;p3_1000G_AFR_AF=0.9909;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=17764;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108863767;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4159,247;ESP6500_AA_AGE=143.5+/-178.5;ESP6500_AA_GTC=1966,227,10;ESP6500_CDS_SIZES=NM_001008743.1:915;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=98;ESP6500_EA_AC=6015,2585;ESP6500_EA_AGE=418.8+/-352.9;ESP6500_EA_GTC=2130,1755,415;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001008743.1:coding-synonymous;ESP6500_GL=SULT1C3;ESP6500_GRCh38_POSITION=2:108247311;ESP6500_GTC=4096,1982,425;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001008743.1:c.117A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001008743.1:p.(V39);ESP6500_MAF=30.0581,5.606,21.7746;ESP6500_TAC=10174,2832	GT:AD:DP:GQ:PL	1/1:0,29:29:87:867,87,0
chr2	108247442	rs10209928	C	T	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.42;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-1.386;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10209928;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|2/7|c.172+76C>T||||||,T|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|2/7|c.172+76C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1834;p3_1000G_AF=0.366214;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=19261;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108863898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:107,0,275
chr2	108252280	rs13030422	G	A	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.22;ReadPosRankSum=0.489;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13030422;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|2/7|c.173-85G>A||||||,A|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|2/7|c.173-85G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1087;p3_1000G_AF=0.217053;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=19610;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.3588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108868736;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:86:86,0,194
chr2	108258742	rs2219078	G	A	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.586;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.707;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2219078;dbSNPBuildID=96;ANN=A|structural_interaction_variant|HIGH|SULT1C3|SULT1C3|interaction|2REO:A_54-A_179:NM_001008743.2|protein_coding|6/8|c.535G>A||||||,A|missense_variant|MODERATE|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|6/8|c.535G>A|p.Gly179Arg|634/1014|535/915|179/304||,A|missense_variant|MODERATE|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|6/8|c.535G>A|p.Gly179Arg|634/1220|535/915|179/304||;p3_1000G_AA=.|||;p3_1000G_AC=1752;p3_1000G_AF=0.34984;p3_1000G_AFR_AF=0.3064;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=17900;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.1918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108875198;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1295,3111;ESP6500_AA_AGE=438.0+/-345.2;ESP6500_AA_GTC=206,883,1114;ESP6500_CDS_SIZES=NM_001008743.1:915;ESP6500_CG=2.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=128;ESP6500_EA_AC=1660,6940;ESP6500_EA_AGE=307.2+/-308.3;ESP6500_EA_GTC=155,1350,2795;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001008743.1:missense;ESP6500_GL=SULT1C3;ESP6500_GRCh38_POSITION=2:108258742;ESP6500_GS=125;ESP6500_GTC=361,2233,3909;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001008743.1:c.535G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001008743.1:p.(G179R);ESP6500_MAF=19.3023,29.3917,22.7203;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=2955,10051	GT:AD:DP:GQ:PL	0/1:12,6:18:99:159,0,342
chr2	108258788	rs6722745	T	C	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.63;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.39;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6722745;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|6/8|c.581T>C|p.Met194Thr|680/1014|581/915|194/304||,C|missense_variant|MODERATE|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|6/8|c.581T>C|p.Met194Thr|680/1220|581/915|194/304||;p3_1000G_AA=.|||;p3_1000G_AC=2546;p3_1000G_AF=0.508387;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=17340;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.2753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108875244;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2730,1676;ESP6500_AA_GTC=837,1056,310;ESP6500_CDS_SIZES=NM_001008743.1:915;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=134;ESP6500_EA_AC=2373,6227;ESP6500_EA_GTC=341,1691,2268;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001008743.1:missense;ESP6500_GL=SULT1C3;ESP6500_GRCh38_POSITION=2:108258788;ESP6500_GS=81;ESP6500_GTC=1178,2747,2578;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001008743.1:c.581T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001008743.1:p.(M194T);ESP6500_MAF=27.593,38.039,39.2357;ESP6500_PH=benign:0.0;ESP6500_TAC=5103,7903	GT:AD:DP:GQ:PL	0/1:14,12:26:99:286,0,392
chr2	108259008	rs149535765;rs540686743	AAAACTTGGTCAGGTGATGTTAT	A	1963.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.463;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=1.601;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.04;ReadPosRankSum=-1.356;SOR=0.621;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs149535765;dbSNPBuildID=142,134;ANN=A|frameshift_variant|HIGH|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|7/8|c.669_690delTTGGTCAGGTGATGTTATAAAC|p.Trp224fs|768/1220|669/915|223/304||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|6/7|c.621+185_621+206delTTGGTCAGGTGATGTTATAAAC||||||INFO_REALIGN_3_PRIME;LOF=(SULT1C3|SULT1C3|2|0.50);p3_1000G_AC=1104;p3_1000G_AF=0.220447;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=22524;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.3767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108875464;p3_1000G_GRCH37_REF=AAAACTTGGTCAGGTGATGTTAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4059;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:47,51:98:99:2001,0,1811
chr2	108259015	rs13385082	G	T	1005.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.204;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=1.673;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.075;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13385082;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|7/8|c.671G>T|p.Trp224Leu|770/1220|671/915|224/304||,T|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|6/7|c.621+187G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2962;p3_1000G_AF=0.591454;p3_1000G_AFR_AF=0.612;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=16947;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108875471;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1034,0,2019
chr2	108260492	rs4141931	C	T	437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4141931;dbSNPBuildID=110;ANN=T|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|6/7|c.621+1664C>T||||||,T|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|7/7|c.803-76C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3548;p3_1000G_AF=0.708466;p3_1000G_AFR_AF=0.6195;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=20532;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.6471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108876948;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:466,42,0
chr2	108260606	rs4141932	T	A	1059.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.44;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4141932;dbSNPBuildID=110;ANN=A|missense_variant|MODERATE|SULT1C3|SULT1C3|transcript|NM_001320878.1|protein_coding|8/8|c.841T>A|p.Leu281Met|940/1220|841/915|281/304||,A|intron_variant|MODIFIER|SULT1C3|SULT1C3|transcript|NM_001008743.2|protein_coding|6/7|c.621+1778T>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3616;p3_1000G_AF=0.722045;p3_1000G_AFR_AF=0.6672;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=20448;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.6471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108877062;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1088,108,0
chr2	108298680	rs7590599	T	C	2134.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=0.898;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7590599;dbSNPBuildID=116;ANN=C|sequence_feature|LOW|SULT1C2|SULT1C2|helix:combinatorial_evidence_used_in_manual_assertion|NM_001056.3|protein_coding|3/7|c.278-2158T>C||||||,C|intron_variant|MODIFIER|SULT1C2|SULT1C2|transcript|NM_176825.2|protein_coding|4/8|c.372+19T>C||||||,C|intron_variant|MODIFIER|SULT1C2|SULT1C2|transcript|NM_001056.3|protein_coding|3/7|c.278-2158T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3761;p3_1000G_AF=0.750998;p3_1000G_AFR_AF=0.8707;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=18027;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108915136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2163,219,0
chr2	108298807	rs4149422	C	T	1186.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.9;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4149422;dbSNPBuildID=110;ANN=T|sequence_feature|LOW|SULT1C2|SULT1C2|helix:combinatorial_evidence_used_in_manual_assertion|NM_001056.3|protein_coding|3/7|c.278-2031C>T||||||,T|intron_variant|MODIFIER|SULT1C2|SULT1C2|transcript|NM_176825.2|protein_coding|4/8|c.372+146C>T||||||,T|intron_variant|MODIFIER|SULT1C2|SULT1C2|transcript|NM_001056.3|protein_coding|3/7|c.278-2031C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3896;p3_1000G_AF=0.777955;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=18770;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.663;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=108915263;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1215,102,0
chr2	108449402	rs2460947	T	C	425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2460947;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|1/22|c.6+122T>C||||||,C|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|1/21|n.160+122T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3361;p3_1000G_AF=0.671126;p3_1000G_AFR_AF=0.5219;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=14274;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.5885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109065858;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:454,42,0
chr2	108449463	rs3820957	T	C	489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820957;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|1/22|c.7-170T>C||||||,C|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|1/21|n.161-170T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2196;p3_1000G_AF=0.438498;p3_1000G_AFR_AF=0.1172;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=14941;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.3698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109065919;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:518,39,0
chr2	108451232	rs13411256	T	G	584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13411256;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|3/22|c.148+120T>G||||||,G|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|2/21|n.218-1167T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2222;p3_1000G_AF=0.44369;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=17385;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.3728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109067688;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:613,48,0
chr2	108452552	rs2683797	T	C	333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2683797;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|4/22|c.216+86T>C||||||,C|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|3/21|n.285+86T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=14389;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109069008;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:362,33,0
chr2	108468917	rs10179602	A	G	352.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.26;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10179602;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|4/22|c.217-63A>G||||||,G|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|3/21|n.286-63A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2112;p3_1000G_AF=0.421725;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=17322;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109085373;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:381,27,0
chr2	108469198	rs71980528;rs79693524	CAAAG	C	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs79693524,rs71980528;dbSNPBuildID=134,131;ANN=C|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|5/22|c.321+118_321+121delGAAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|4/21|n.390+118_390+121delGAAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2186;p3_1000G_AF=0.436502;p3_1000G_AFR_AF=0.1172;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=15289;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109085654;p3_1000G_GRCH37_REF=CAAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr2	108472948	rs2243888	C	G	1149.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2243888;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|7/22|c.2860+49C>G||||||,G|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|6/21|n.2929+49C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=18837;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109089404;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2387,2007;ESP6500_AA_GTC=645,1097,455;ESP6500_CDS_SIZES=NM_181453.3:5055;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=37;ESP6500_EA_AC=5105,3485;ESP6500_EA_GTC=1499,2107,689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181453.3:intron;ESP6500_GL=GCC2;ESP6500_GRCh38_POSITION=2:108472948;ESP6500_GTC=2144,3204,1144;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_181453.3:c.2860+49C>G;ESP6500_MAF=40.5704,45.6759,42.2982;ESP6500_TAC=7492,5492	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1178,113,0
chr2	108475665	rs3213886	G	A	581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.7;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3213886;dbSNPBuildID=106;ANN=A|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|8/22|c.2961+30G>A||||||,A|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|7/21|n.3030+30G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2185;p3_1000G_AF=0.436302;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=14787;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109092121;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=724,3646;ESP6500_AA_GTC=68,588,1529;ESP6500_CDS_SIZES=NM_181453.3:5055;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=20;ESP6500_EA_AC=3301,5263;ESP6500_EA_GTC=650,2001,1631;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181453.3:intron;ESP6500_GL=GCC2;ESP6500_GRCh38_POSITION=2:108475665;ESP6500_GTC=718,2589,3160;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181453.3:c.2961+30G>A;ESP6500_MAF=38.5451,16.5675,31.1195;ESP6500_TAC=4025,8909	GT:AD:DP:GQ:PL	1/1:0,21:21:63:610,63,0
chr2	108483021	rs2577613	A	G	226.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.19;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2577613;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|11/22|c.3346-41A>G||||||,G|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|10/21|n.3415-41A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=16275;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109099477;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2395,1941;ESP6500_AA_GTC=673,1049,446;ESP6500_CDS_SIZES=NM_181453.3:5055;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=18;ESP6500_EA_AC=5135,3451;ESP6500_EA_GTC=1540,2055,698;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181453.3:intron;ESP6500_GL=GCC2;ESP6500_GRCh38_POSITION=2:108483021;ESP6500_GTC=2213,3104,1144;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181453.3:c.3346-41A>G;ESP6500_MAF=40.1933,44.7648,41.7273;ESP6500_TAC=7530,5392	GT:AD:DP:GQ:PL	1/1:0,6:6:18:255,18,0
chr2	108483116	rs2718698	C	G	592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2718698;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|GCC2|GCC2|transcript|NM_181453.3|protein_coding|12/23|c.3400C>G|p.Gln1134Glu|3554/6977|3400/5055|1134/1684||,G|non_coding_transcript_exon_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|11/22|n.3469C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4995;p3_1000G_AF=0.997404;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18230;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.993;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109099572;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4392,14;ESP6500_AA_AGE=21.2+/-45.6;ESP6500_AA_GTC=2189,14,0;ESP6500_CDS_SIZES=NM_181453.3:5055;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=66;ESP6500_EA_AC=8484,116;ESP6500_EA_AGE=61.3+/-123.2;ESP6500_EA_GTC=4185,114,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181453.3:missense;ESP6500_GL=GCC2;ESP6500_GRCh38_POSITION=2:108483116;ESP6500_GS=29;ESP6500_GTC=6374,128,1;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_181453.3:c.3400C>G;ESP6500_HGVS_PROTEIN_VAR=NM_181453.3:p.(Q1134E);ESP6500_MAF=1.3488,0.3177,0.9995;ESP6500_PH=benign:0.0;ESP6500_TAC=12876,130	GT:AD:DP:GQ:PL	1/1:0,19:19:57:621,57,0
chr2	108486652	rs3754925	C	T	669.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.91;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3754925;dbSNPBuildID=107;ANN=T|splice_region_variant&intron_variant|LOW|GCC2|GCC2|transcript|NM_181453.3|protein_coding|16/22|c.3930+4C>T||||||,T|splice_region_variant&intron_variant|LOW|GCC2|GCC2|transcript|NR_028063.1|pseudogene|15/21|n.3999+4C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2222;p3_1000G_AF=0.44369;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=15051;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.3728;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109103108;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=815,3591;ESP6500_AA_AGE=321.0+/-296.9;ESP6500_AA_GTC=79,657,1467;ESP6500_CDS_SIZES=NM_181453.3:5055;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=3465,5135;ESP6500_EA_AGE=506.7+/-376.6;ESP6500_EA_GTC=704,2057,1539;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181453.3:intron;ESP6500_GL=GCC2;ESP6500_GRCh38_POSITION=2:108486652;ESP6500_GTC=783,2714,3006;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181453.3:c.3930+4C>T;ESP6500_MAF=40.2907,18.4975,32.9079;ESP6500_TAC=4280,8726	GT:AD:DP:GQ:PL	1/1:0,24:24:72:698,72,0
chr2	108489925	rs12104502	A	G	1204.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=0.788;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12104502;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|GCC2|GCC2|transcript|NM_181453.3|protein_coding|18/23|c.4140A>G|p.Gln1380Gln|4294/6977|4140/5055|1380/1684||,G|non_coding_transcript_exon_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|17/22|n.4209A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2286;p3_1000G_AF=0.45647;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=17454;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.3757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109106381;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=970,3436;ESP6500_AA_AGE=362.6+/-316.2;ESP6500_AA_GTC=101,768,1334;ESP6500_CDS_SIZES=NM_181453.3:5055;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=62;ESP6500_EA_AC=3495,5105;ESP6500_EA_AGE=510.0+/-377.4;ESP6500_EA_GTC=714,2067,1519;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181453.3:coding-synonymous;ESP6500_GL=GCC2;ESP6500_GRCh38_POSITION=2:108489925;ESP6500_GTC=815,2835,2853;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181453.3:c.4140A>G;ESP6500_HGVS_PROTEIN_VAR=NM_181453.3:p.(Q1380);ESP6500_MAF=40.6395,22.0154,34.3303;ESP6500_TAC=4465,8541	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1233,126,0
chr2	108499560	rs199941915	A	G	161.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.897;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.89;MQRankSum=-2.003;QD=3.24;ReadPosRankSum=0.545;SOR=0.852;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199941915;dbSNPBuildID=137;ANN=G|protein_protein_contact|HIGH|GCC2|GCC2|interaction|3BBP:C_49-F_1597:NM_198896.1-NM_181453.3|protein_coding|22/23|c.4790A>G||||||,G|missense_variant|MODERATE|GCC2|GCC2|transcript|NM_181453.3|protein_coding|22/23|c.4790A>G|p.Lys1597Arg|4944/6977|4790/5055|1597/1684||,G|non_coding_transcript_exon_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|21/22|n.4859A>G||||||	GT:AD:DP:GQ:PL	0/1:37,13:50:99:190,0,850
chr2	108507532	rs201688853	C	CT	43.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=14.42;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs201688853;dbSNPBuildID=137;ANN=CT|downstream_gene_variant|MODIFIER|GCC2-AS1|GCC2-AS1|transcript|NR_135290.1|pseudogene||n.*8dupA|||||8|,CT|intron_variant|MODIFIER|GCC2|GCC2|transcript|NM_181453.3|protein_coding|22/22|c.4985-17dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|GCC2|GCC2|transcript|NR_028063.1|pseudogene|21/21|n.5054-17dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:80,9,0
chr2	108534717	rs12104672	T	G	64.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12104672;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|GCC2-AS1|GCC2-AS1|transcript|NR_135290.1|pseudogene||n.-498A>C|||||498|,G|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193483.2|protein_coding|1/9|c.32+123T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2536;p3_1000G_AF=0.50639;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=5038;p3_1000G_EAS_AF=0.9534;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109151173;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr2	108662044	rs12619855	G	A	609.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=4.294;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12619855;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193485.2|protein_coding|2/9|c.342+2280G>A||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193483.2|protein_coding|2/9|c.192+2280G>A||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_004987.5|protein_coding|2/9|c.156+2280G>A||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193488.1|protein_coding|2/9|c.156+2280G>A||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193482.1|protein_coding|2/9|c.168+2280G>A||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193484.1|protein_coding|2/9|c.267+2280G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2170;p3_1000G_AF=0.433307;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=16924;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109278500;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:638,51,0
chr2	108675824	rs7584953	T	C	1603.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.87;QD=30.16;SOR=2.059;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7584953;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193485.2|protein_coding|5/9|c.681-54T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193483.2|protein_coding|5/9|c.531-54T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_004987.5|protein_coding|5/9|c.495-54T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193488.1|protein_coding|5/9|c.495-54T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193482.1|protein_coding|5/9|c.507-54T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193484.1|protein_coding|5/9|c.606-54T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4337;p3_1000G_AF=0.866014;p3_1000G_AFR_AF=0.7012;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=19673;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.8479;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109292280;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1632,135,0
chr2	108676523	rs62151380	T	C	121.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.5;QD=24.38;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62151380;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193485.2|protein_coding|6/9|c.832-83T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193483.2|protein_coding|6/9|c.682-83T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_004987.5|protein_coding|6/9|c.646-83T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193488.1|protein_coding|6/9|c.646-83T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193482.1|protein_coding|6/9|c.658-83T>C||||||,C|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193484.1|protein_coding|6/9|c.757-83T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2170;p3_1000G_AF=0.433307;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18361;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109292979;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:150,15,0
chr2	108676674	rs2438733	A	G	109.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=33.35;QD=27.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs115305258;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|LIMS1|LIMS1|transcript|NM_001193485.2|protein_coding|7/10|c.900A>G|p.Ala300Ala|1163/4674|900/1164|300/387||,G|synonymous_variant|LOW|LIMS1|LIMS1|transcript|NM_001193483.2|protein_coding|7/10|c.750A>G|p.Ala250Ala|958/4469|750/1014|250/337||,G|synonymous_variant|LOW|LIMS1|LIMS1|transcript|NM_004987.5|protein_coding|7/10|c.714A>G|p.Ala238Ala|843/4354|714/978|238/325||,G|synonymous_variant|LOW|LIMS1|LIMS1|transcript|NM_001193488.1|protein_coding|7/10|c.714A>G|p.Ala238Ala|881/4392|714/978|238/325||,G|synonymous_variant|LOW|LIMS1|LIMS1|transcript|NM_001193482.1|protein_coding|7/10|c.726A>G|p.Ala242Ala|813/4324|726/990|242/329||,G|synonymous_variant|LOW|LIMS1|LIMS1|transcript|NM_001193484.1|protein_coding|7/10|c.825A>G|p.Ala275Ala|934/4445|825/1089|275/362||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:137,12,0
chr2	108678132	rs7585366	A	T	3041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.59;QD=31.69;SOR=1.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs145969561;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193485.2|protein_coding|8/9|c.973+105A>T||||||,T|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193483.2|protein_coding|8/9|c.823+105A>T||||||,T|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_004987.5|protein_coding|8/9|c.787+105A>T||||||,T|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193488.1|protein_coding|8/9|c.787+105A>T||||||,T|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193482.1|protein_coding|8/9|c.799+105A>T||||||,T|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193484.1|protein_coding|8/9|c.898+105A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2542;p3_1000G_AF=0.507588;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs145969561;p3_1000G_DP=21608;p3_1000G_EAS_AF=0.9464;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109294588;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3070,288,0
chr2	108680561	rs59337195	AAAAG	A	268.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.63;QD=29.86;SOR=3.056;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs59337195;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193485.2|protein_coding|8/9|c.974-133_974-130delAAAG||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193483.2|protein_coding|8/9|c.824-133_824-130delAAAG||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_004987.5|protein_coding|8/9|c.788-133_788-130delAAAG||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193488.1|protein_coding|8/9|c.788-133_788-130delAAAG||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193482.1|protein_coding|8/9|c.800-133_800-130delAAAG||||||,A|intron_variant|MODIFIER|LIMS1|LIMS1|transcript|NM_001193484.1|protein_coding|8/9|c.899-133_899-130delAAAG||||||;p3_1000G_AC=2620;p3_1000G_AF=0.523163;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=14000;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.4394;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109297017;p3_1000G_GRCH37_REF=AAAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:27:306,27,0
chr2	108773007	rs826580	G	A	886.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs826580;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|RANBP2|RANBP2|transcript|NM_006267.4|protein_coding|23/29|c.8253G>A|p.Glu2751Glu|8379/11711|8253/9675|2751/3224||;p3_1000G_AA=A|||;p3_1000G_AC=4944;p3_1000G_AF=0.98722;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18087;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109389463;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4203,203;ESP6500_AA_AGE=124.5+/-161.8;ESP6500_AA_GTC=2006,191,6;ESP6500_CDS_SIZES=NM_006267.4:9675;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=72;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006267.4:coding-synonymous;ESP6500_GL=RANBP2;ESP6500_GRCh38_POSITION=2:108773007;ESP6500_GTC=6303,194,6;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006267.4:c.8253G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006267.4:p.(E2751);ESP6500_MAF=0.0349,4.6074,1.5839;ESP6500_TAC=12800,206	GT:AD:DP:GQ:PL	1/1:0,30:30:90:915,90,0
chr2	108777066	rs58272304;rs796426065	TG	T	444.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.77;SOR=1.329;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58272304;dbSNPBuildID=130,146;ANN=T|intron_variant|MODIFIER|RANBP2|RANBP2|transcript|NM_006267.4|protein_coding|24/28|c.8498-60delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GGGG|GGG|insertion;p3_1000G_AC=4955;p3_1000G_AF=0.989417;p3_1000G_AFR_AF=0.9607;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17359;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109393522;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:42:482,42,0
chr2	108794792	rs111234702;rs200225950;rs548875346	GAATAT	G	407.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.01;SOR=4.804;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs111234702,rs200225950;dbSNPBuildID=132,137,142;ANN=G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_144978.2|protein_coding|5/14|c.576+78_576+82delATATA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_001303105.1|protein_coding|5/13|c.576+78_576+82delATATA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_001303106.1|protein_coding|5/14|c.-373+78_-373+82delATATA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NR_130121.1|pseudogene|5/13|n.769+78_769+82delATATA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3696;p3_1000G_AF=0.738019;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=16600;p3_1000G_EAS_AF=0.9087;p3_1000G_EUR_AF=0.7654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109411248;p3_1000G_GRCH37_REF=GAATAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:445,30,0
chr2	108812690	rs975597	T	A	1660.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs975597;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|CCDC138|CCDC138|transcript|NM_144978.2|protein_coding|8/15|c.915T>A|p.Ala305Ala|988/2409|915/1998|305/665||,A|synonymous_variant|LOW|CCDC138|CCDC138|transcript|NM_001303105.1|protein_coding|8/14|c.915T>A|p.Ala305Ala|988/2270|915/1734|305/577||,A|5_prime_UTR_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_001303106.1|protein_coding|8/15|c.-34T>A|||||145|,A|non_coding_transcript_exon_variant|MODIFIER|CCDC138|CCDC138|transcript|NR_130121.1|pseudogene|8/14|n.1108T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3077;p3_1000G_AF=0.614417;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=18573;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.7555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109429146;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1368,3038;ESP6500_AA_AGE=451.6+/-349.7;ESP6500_AA_GTC=223,922,1058;ESP6500_CDS_SIZES=NM_144978.1:1998;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=121;ESP6500_EA_AC=6530,2066;ESP6500_EA_AGE=717.1+/-406.1;ESP6500_EA_GTC=2474,1582,242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144978.1:coding-synonymous;ESP6500_GL=CCDC138;ESP6500_GRCh38_POSITION=2:108812690;ESP6500_GTC=2697,2504,1300;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_144978.1:c.915T>A;ESP6500_HGVS_PROTEIN_VAR=NM_144978.1:p.(A305);ESP6500_MAF=24.0344,31.0486,39.2555;ESP6500_TAC=7898,5104	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1689,162,0
chr2	108873648	rs6737810	A	G	112.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.58;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6737810;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_144978.2|protein_coding|14/14|c.1832+59A>G||||||,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_001303105.1|protein_coding|13/13|c.1694-2440A>G||||||,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_001303106.1|protein_coding|14/14|c.884+59A>G||||||,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NR_130121.1|pseudogene|13/13|n.1887-2440A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4989;p3_1000G_AF=0.996206;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=16804;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109490104;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:141,15,0
chr2	108873690	rs11686550	A	G	57.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11686550;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_144978.2|protein_coding|14/14|c.1832+101A>G||||||,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_001303105.1|protein_coding|13/13|c.1694-2398A>G||||||,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NM_001303106.1|protein_coding|14/14|c.884+101A>G||||||,G|intron_variant|MODIFIER|CCDC138|CCDC138|transcript|NR_130121.1|pseudogene|13/13|n.1887-2398A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3336;p3_1000G_AF=0.666134;p3_1000G_AFR_AF=0.3086;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=17611;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.836;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109490146;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6247;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:85,6,0
chr2	108882541	rs765089	T	C	1376.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.45;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs765089;dbSNPBuildID=86;ANN=C|intergenic_region|MODIFIER|CCDC138-EDAR|CCDC138-EDAR|intergenic_region|CCDC138-EDAR|||n.108882541T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3557;p3_1000G_AF=0.710264;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=20395;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109498997;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1405,111,0
chr2	108896865	rs7607563;155862	C	A	958.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7607563;dbSNPBuildID=116;ANN=A|3_prime_UTR_variant|MODIFIER|EDAR|EDAR|transcript|NM_022336.3|protein_coding|12/12|c.*42G>T|||||42|;p3_1000G_AA=A|||;p3_1000G_AC=4422;p3_1000G_AF=0.882987;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=20032;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109513321;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3422,984;ESP6500_AA_GTC=1317,788,98;ESP6500_CDS_SIZES=NM_022336.3:1347;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=19;ESP6500_EA_AC=7748,850;ESP6500_EA_GTC=3491,766,42;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022336.3:utr-3;ESP6500_GL=EDAR;ESP6500_GRCh38_POSITION=2:108896865;ESP6500_GTC=4808,1554,140;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_022336.3:c.*42G>T;ESP6500_MAF=9.886,22.3332,14.1034;ESP6500_TAC=11170,1834;CLINVAR_ALLELEID=165611;CLINVAR_CLNDISDB=MedGen:CN239335|MedGen:CN517202;CLINVAR_CLNDN=Hypohidrotic_Ectodermal_Dysplasia,_Dominant|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.108896865C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25586;CLINVAR_GENEINFO=RANBP2:5903|EDAR:10913;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=3;CLINVAR_RS=7607563	GT:AD:DP:GQ:PL	1/1:0,28:28:84:987,84,0
chr2	108897145	rs3827760;5858	A	G	2691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3827760;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|EDAR|EDAR|transcript|NM_022336.3|protein_coding|12/12|c.1109T>C|p.Val370Ala|1540/4214|1109/1347|370/448||;p3_1000G_AA=A|||;p3_1000G_AC=1180;p3_1000G_AF=0.235623;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=15669;p3_1000G_EAS_AF=0.873;p3_1000G_EUR_AF=0.0109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109513601;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=59,4347;ESP6500_AA_AGE=55.5+/-91.7;ESP6500_AA_GTC=1,57,2145;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...10913&amp%3Brs...3827760|http://omim.org/entry/604095#0011;ESP6500_CDS_SIZES=NM_022336.3:1347;ESP6500_CG=5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=84;ESP6500_EA_AC=76,8524;ESP6500_EA_AGE=45.4+/-104.0;ESP6500_EA_GTC=0,76,4224;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022336.3:missense;ESP6500_GL=EDAR;ESP6500_GRCh38_POSITION=2:108897145;ESP6500_GS=64;ESP6500_GTC=1,133,6369;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022336.3:c.1109T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022336.3:p.(V370A);ESP6500_MAF=0.8837,1.3391,1.038;ESP6500_PH=possibly-damaging:0.656;ESP6500_TAC=135,12871;CLINVAR_AF_ESP=0.0104;CLINVAR_AF_EXAC=0.12996;CLINVAR_AF_TGP=0.2356;CLINVAR_ALLELEID=20897;CLINVAR_CLNDISDB=MedGen:C4016871|MedGen:CN169374|MedGen:CN239335;CLINVAR_CLNDN=Hair_morphology_1,_hair_thickness|not_specified|Hypohidrotic_Ectodermal_Dysplasia,_Dominant;CLINVAR_CLNHGVS=NC_000002.12:g.108897145A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:82388|OMIM_Allelic_Variant:604095.0011|UniProtKB_(protein):Q9UNE0#VAR_020011;CLINVAR_GENEINFO=RANBP2:5903|EDAR:10913;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3827760	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2720,267,0
chr2	108897198	rs12623957;155865	G	A	1544.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.61;SOR=1.835;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12623957;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|EDAR|EDAR|transcript|NM_022336.3|protein_coding|12/12|c.1056C>T|p.Cys352Cys|1487/4214|1056/1347|352/448||;p3_1000G_AA=G|||;p3_1000G_AC=3565;p3_1000G_AF=0.711861;p3_1000G_AFR_AF=0.3517;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=15547;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109513654;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1953,2453;ESP6500_AA_AGE=549.3+/-377.7;ESP6500_AA_GTC=430,1093,680;ESP6500_CDS_SIZES=NM_022336.3:1347;ESP6500_CG=3.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=53;ESP6500_EA_AC=7142,1458;ESP6500_EA_AGE=748.7+/-407.3;ESP6500_EA_GTC=2952,1238,110;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022336.3:coding-synonymous;ESP6500_GL=EDAR;ESP6500_GRCh38_POSITION=2:108897198;ESP6500_GTC=3382,2331,790;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022336.3:c.1056C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022336.3:p.(C352);ESP6500_MAF=16.9535,44.3259,30.0707;ESP6500_TAC=9095,3911;CLINVAR_ALLELEID=165614;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239335|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Hypohidrotic_Ectodermal_Dysplasia,_Dominant|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.108897198G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:60094|Illumina_Clinical_Services_Laboratory,Illumina:25593;CLINVAR_GENEINFO=RANBP2:5903|EDAR:10913;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=3;CLINVAR_RS=12623957	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1573,162,0
chr2	108897330	rs3789738	A	T	20.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.39;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3789738;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|EDAR|EDAR|transcript|NM_022336.3|protein_coding|11/11|c.1025-101T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3317;p3_1000G_AF=0.66234;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=13785;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.8201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109513786;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:48,6,0
chr2	108906264	rs260639;155864	G	A	712.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.7;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs260639;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|EDAR|EDAR|transcript|NM_022336.3|protein_coding|11/11|c.1024+44C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3377;p3_1000G_AF=0.674321;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=15655;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.836;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109522720;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1748,2658;ESP6500_AA_AGE=514.7+/-368.7;ESP6500_AA_GTC=352,1044,807;ESP6500_CDS_SIZES=NM_022336.3:1347;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=59;ESP6500_EA_AC=7132,1468;ESP6500_EA_AGE=748.6+/-407.3;ESP6500_EA_GTC=2945,1242,113;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022336.3:intron;ESP6500_GL=EDAR;ESP6500_GRCh38_POSITION=2:108906264;ESP6500_GTC=3297,2286,920;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022336.3:c.1024+44C>T;ESP6500_MAF=17.0698,39.6732,31.7238;ESP6500_TAC=8880,4126;CLINVAR_ALLELEID=165613;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.108906264G>A;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RANBP2:5903|EDAR:10913;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=2;CLINVAR_RS=260639	GT:AD:DP:GQ:PL	1/1:0,24:24:72:741,72,0
chr2	108910513	rs260632;155870	G	A	1990.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=0.79;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs260632;dbSNPBuildID=79;ANN=A|synonymous_variant|LOW|EDAR|EDAR|transcript|NM_022336.3|protein_coding|9/12|c.750C>T|p.Ser250Ser|1181/4214|750/1347|250/448||;p3_1000G_AA=A|||;p3_1000G_AC=4614;p3_1000G_AF=0.921326;p3_1000G_AFR_AF=0.8752;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=22231;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9085;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109526969;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3898,508;ESP6500_AA_AGE=235.2+/-247.8;ESP6500_AA_GTC=1728,442,33;ESP6500_CDS_SIZES=NM_022336.3:1347;ESP6500_CG=-10.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=93;ESP6500_EA_AC=7759,841;ESP6500_EA_AGE=193.5+/-239.2;ESP6500_EA_GTC=3496,767,37;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022336.3:coding-synonymous;ESP6500_GL=EDAR;ESP6500_GRCh38_POSITION=2:108910513;ESP6500_GTC=5224,1209,70;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022336.3:c.750C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022336.3:p.(S250);ESP6500_MAF=9.7791,11.5297,10.3721;ESP6500_TAC=11657,1349;CLINVAR_ALLELEID=165619;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239335|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Hypohidrotic_Ectodermal_Dysplasia,_Dominant|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.108910513G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25600;CLINVAR_GENEINFO=RANBP2:5903|EDAR:10913;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=3;CLINVAR_RS=260632	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2019,189,0
chr2	108910631	rs260631;155869	G	A	1858.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=0.8;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs260631;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|EDAR|EDAR|transcript|NM_022336.3|protein_coding|8/11|c.731-99C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3333;p3_1000G_AF=0.665535;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=10395;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.83;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109527087;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;CLINVAR_ALLELEID=165618;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.108910631G>A;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RANBP2:5903|EDAR:10913;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=2;CLINVAR_RS=260631	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1887,171,0
chr2	108910917	rs260630;155867	A	G	1642.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs260630;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|EDAR|EDAR|transcript|NM_022336.3|protein_coding|7/11|c.655+30T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4645;p3_1000G_AF=0.927516;p3_1000G_AFR_AF=0.8979;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=18246;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9085;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109527373;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4019,387;ESP6500_AA_AGE=193.3+/-218.5;ESP6500_AA_GTC=1835,349,19;ESP6500_CDS_SIZES=NM_022336.3:1347;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=63;ESP6500_EA_AC=7759,841;ESP6500_EA_AGE=193.1+/-238.9;ESP6500_EA_GTC=3496,767,37;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022336.3:intron;ESP6500_GL=EDAR;ESP6500_GRCh38_POSITION=2:108910917;ESP6500_GTC=5331,1116,56;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022336.3:c.655+30T>C;ESP6500_MAF=9.7791,8.7835,9.4418;ESP6500_TAC=11778,1228;CLINVAR_ALLELEID=165616;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.108910917A>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RANBP2:5903|EDAR:10913;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=2;CLINVAR_RS=260630	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1671,147,0
chr2	109129326	rs200435574	TGGCCGGTCCCCGCCACGCA	T	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200435574,rs11272340;dbSNPBuildID=137;ANN=T|upstream_gene_variant|MODIFIER|SH3RF3|SH3RF3|transcript|NM_001099289.2|protein_coding||c.-214_-196delGGCCGGTCCCCGCCACGCA|||||214|,T|non_coding_transcript_exon_variant|MODIFIER|SH3RF3-AS1|SH3RF3-AS1|transcript|NR_029193.1|pseudogene|1/1|n.775_793delTGCGTGGCGGGGACCGGCC||||||;p3_1000G_AC=3860;p3_1000G_AF=0.770767;p3_1000G_AFR_AF=0.7239;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=6628;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.8002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109745782;p3_1000G_GRCH37_REF=TGGCCGGTCCCCGCCACGCA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7679;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr2	109129521	rs117032261	C	T	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.68;ReadPosRankSum=0.18;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117032261;dbSNPBuildID=132;ANN=T|upstream_gene_variant|MODIFIER|SH3RF3|SH3RF3|transcript|NM_001099289.2|protein_coding||c.-20C>T|||||20|,T|non_coding_transcript_exon_variant|MODIFIER|SH3RF3-AS1|SH3RF3-AS1|transcript|NR_029193.1|pseudogene|1/1|n.599G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=279;p3_1000G_AF=0.0557109;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=9587;p3_1000G_EAS_AF=0.122;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109745977;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:61:166,0,61
chr2	109347975	rs6725756	C	T	443.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.767;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=-0.114;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6725756;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SH3RF3|SH3RF3|transcript|NM_001099289.2|protein_coding|2/9|c.849+26C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2055;p3_1000G_AF=0.410343;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=16313;p3_1000G_EAS_AF=0.6062;p3_1000G_EUR_AF=0.2167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109964431;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1614,2192;ESP6500_AA_GTC=350,914,639;ESP6500_CDS_SIZES=NM_001099289.1:2483;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=1569,6607;ESP6500_EA_GTC=158,1253,2677;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001099289.1:intron;ESP6500_GL=SH3RF3;ESP6500_GRCh38_POSITION=2:109347975;ESP6500_GTC=508,2167,3316;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001099289.1:c.849+26C>T;ESP6500_MAF=19.1903,42.4067,26.5648;ESP6500_TAC=3183,8799	GT:AD:DP:GQ:PL	0/1:8,16:24:99:472,0,196
chr2	109371759	rs11680644	C	G	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=-0.766;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11680644;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SH3RF3|SH3RF3|transcript|NM_001099289.2|protein_coding|3/9|c.945+78C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2653;p3_1000G_AF=0.529752;p3_1000G_AFR_AF=0.5272;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=19493;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=109988215;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,3:14:85:85,0,363
chr2	109436792	rs7369523	C	T	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.543;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.312;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7369523;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SH3RF3|SH3RF3|transcript|NM_001099289.2|protein_coding|6/9|c.1575-101C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1293;p3_1000G_AF=0.258187;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=17571;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110053248;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:221,0,260
chr2	109501728	rs72627485	C	T	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.549;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.42;ReadPosRankSum=0.674;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72627485;dbSNPBuildID=130;ANN=T|3_prime_UTR_variant|MODIFIER|SH3RF3|SH3RF3|transcript|NM_001099289.2|protein_coding|10/10|c.*57C>T|||||57|;p3_1000G_AA=c|||;p3_1000G_AC=332;p3_1000G_AF=0.0662939;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=13444;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.0537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110259305;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:44:221,0,44
chr2	109546299	rs77718365	G	A	419.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.054;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.12;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.245;SOR=0.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77718365;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321498.1|protein_coding|9/11|c.1162-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321513.1|protein_coding|9/9|c.1135-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321514.1|protein_coding|9/10|c.1117-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321515.1|protein_coding|8/9|c.1066-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321496.1|protein_coding|7/8|c.763-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321499.1|protein_coding|6/6|c.661-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321500.1|protein_coding|8/8|c.1093-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321501.1|protein_coding|9/9|c.1036-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321502.1|protein_coding|7/7|c.960-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321503.1|protein_coding|4/4|c.459-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321504.1|protein_coding|6/6|c.583-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321505.1|protein_coding|6/7|c.583-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321506.1|protein_coding|5/6|c.592-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321507.1|protein_coding|7/7|c.763-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321508.1|protein_coding|5/5|c.450-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321509.1|protein_coding|9/10|c.1036-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321510.1|protein_coding|6/7|c.661-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321511.1|protein_coding|5/5|c.592-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321512.1|protein_coding|9/9|c.1162-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_144710.4|protein_coding|9/10|c.1162-62C>T||||||,A|intron_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_178584.3|protein_coding|8/9|c.1093-62C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=176;p3_1000G_AF=0.0351438;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16656;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110303876;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,21:35:99:448,0,378
chr2	109614615	rs6594048	A	G	806.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.88;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6594048;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|SOWAHC|SOWAHC|transcript|NM_023016.3|protein_coding|1/1|c.126A>G|p.Leu42Leu|282/4654|126/1578|42/525||,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321498.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321513.1|protein_coding||c.-1501T>C|||||958|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321514.1|protein_coding||c.-21511T>C|||||958|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321515.1|protein_coding||c.-1501T>C|||||958|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321496.1|protein_coding||c.-21551T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321499.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321500.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321501.1|protein_coding||c.-28804T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321502.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321503.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321504.1|protein_coding||c.-40014T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321505.1|protein_coding||c.-40014T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321506.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321507.1|protein_coding||c.-21551T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321508.1|protein_coding||c.-40014T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321509.1|protein_coding||c.-28804T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321510.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321511.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_001321512.1|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_144710.4|protein_coding||c.-788T>C|||||409|,G|upstream_gene_variant|MODIFIER|SEPT10|SEPT10|transcript|NM_178584.3|protein_coding||c.-788T>C|||||409|;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=6158;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110372192;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:835,81,0
chr2	110091645	rs3849324	G	A	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.424;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=7.455;MLEAC=1;MLEAF=0.5;MQ=41.3;MQRankSum=-2.995;QD=5.63;ReadPosRankSum=0.229;SOR=0.376;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141095578;dbSNPBuildID=108;ANN=A|synonymous_variant|LOW|MALL|MALL|transcript|NM_005434.4|protein_coding|2/4|c.231C>T|p.Tyr77Tyr|1005/3061|231/462|77/153||	GT:AD:DP:GQ:PL	0/1:45,21:66:99:400,0,1252
chr2	110097546	rs2004273	G	T	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.327;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.431;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.604;SOR=1.041;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2004273;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|MALL|MALL|transcript|NM_005434.4|protein_coding|1/3|c.106-5776C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3703;p3_1000G_AF=0.739417;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=15707;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110855123;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,14:33:99:324,0,464
chr2	110115893	rs397872304;rs542894291	G	GA	86.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.807;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=-0.391;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11375171;dbSNPBuildID=142,138;ANN=GA|5_prime_UTR_variant|MODIFIER|MALL|MALL|transcript|NM_005434.4|protein_coding|1/4|c.-102dupT|||||102|;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1662;p3_1000G_AF=0.331869;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=13344;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.2465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110873470;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,7:12:80:124,0,80
chr2	110125122	rs2048243	A	G	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=4.472;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-1.151;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2048243;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|19/19|c.1929+515T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|19/19|c.1761+515T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|17/17|c.1572+515T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|19/19|c.1926+515T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1889;p3_1000G_AF=0.377196;p3_1000G_AFR_AF=0.1634;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=17919;p3_1000G_EAS_AF=0.5883;p3_1000G_EUR_AF=0.3042;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110882699;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:136,0,334
chr2	110129109	rs3838315;rs5833367	A	AGACCAGAT	79.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.385;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3838315,rs5833367;dbSNPBuildID=107,130;ANN=AGACCAGAT|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|18/19|c.1884+76_1884+77insATCTGGTC||||||,AGACCAGAT|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|18/19|c.1716+76_1716+77insATCTGGTC||||||,AGACCAGAT|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|16/17|c.1527+76_1527+77insATCTGGTC||||||,AGACCAGAT|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|18/19|c.1881+76_1881+77insATCTGGTC||||||;p3_1000G_AC=2394;p3_1000G_AF=0.478035;p3_1000G_AFR_AF=0.5197;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=20522;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.3042;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110886686;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,3:6:99:117,0,296
chr2	110144685	rs3752863	G	A	64.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.842;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752863;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|14/19|c.1521-116C>T||||||,A|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|14/19|c.1353-116C>T||||||,A|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|12/17|c.1164-116C>T||||||,A|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|14/19|c.1518-116C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1978;p3_1000G_AF=0.394968;p3_1000G_AFR_AF=0.2216;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=15958;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110902262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:34:93,0,34
chr2	110148087	rs1509417	G	A	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.135;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.887;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1509417;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|12/19|c.1327-61C>T||||||,A|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|12/19|c.1159-61C>T||||||,A|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|10/17|c.970-61C>T||||||,A|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|12/19|c.1324-61C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2379;p3_1000G_AF=0.47504;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=17963;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110905664;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:67:139,0,67
chr2	110161464	rs3817140	A	G	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=1.65;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3817140;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|10/19|c.1122+139T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|10/19|c.954+139T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|8/17|c.765+139T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|10/19|c.1119+139T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1925;p3_1000G_AF=0.384385;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=17287;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110919041;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:32:114,0,32
chr2	110161744	rs2271244;255705	C	T	94.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271244;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|9/19|c.1028-47G>A||||||,T|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|9/19|c.860-47G>A||||||,T|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|7/17|c.671-47G>A||||||,T|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|9/19|c.1025-47G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1893;p3_1000G_AF=0.377995;p3_1000G_AFR_AF=0.18;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=18051;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110919321;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=925,3481;ESP6500_AA_GTC=111,703,1389;ESP6500_CDS_SIZES=NM_207181.2:2199,NM_001128179.1:1845,NM_001128178.1:2034,NM_000272.3:2202;ESP6500_CG=0.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=22;ESP6500_EA_AC=2729,5869;ESP6500_EA_GTC=444,1841,2014;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207181.2:intron,NM_001128179.1:intron,NM_001128178.1:intron,NM_000272.3:intron;ESP6500_GL=NPHP1;ESP6500_GRCh38_POSITION=2:110161744;ESP6500_GTC=555,2544,3403;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207181.2:c.1025-47G>A,NM_001128179.1:c.671-47G>A,NM_001128178.1:c.860-47G>A,NM_000272.3:c.1028-47G>A;ESP6500_MAF=31.7399,20.9941,28.099;ESP6500_TAC=3654,9350;CLINVAR_AF_ESP=0.2810;CLINVAR_AF_EXAC=0.36133;CLINVAR_AF_TGP=0.3780;CLINVAR_ALLELEID=250088;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.110161744C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NPHP1:4867;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2271244	GT:AD:DP:GQ:PL	1/1:0,4:4:12:122,12,0
chr2	110165126	rs11675767;92719	C	T	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.134;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=1.5;SOR=0.681;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11675767;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|7/20|c.654G>A|p.Glu218Glu|748/2751|654/2202|218/733||,T|synonymous_variant|LOW|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|7/20|c.654G>A|p.Glu218Glu|748/2583|654/2034|218/677||,T|synonymous_variant|LOW|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|5/18|c.468G>A|p.Glu156Glu|562/2394|468/1845|156/614||,T|synonymous_variant|LOW|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|7/20|c.654G>A|p.Glu218Glu|748/2748|654/2199|218/732||;p3_1000G_AA=T|||;p3_1000G_AC=2376;p3_1000G_AF=0.474441;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=13896;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.3032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110922703;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2153,2253;ESP6500_AA_AGE=595.0+/-388.3;ESP6500_AA_GTC=534,1085,584;ESP6500_CDS_SIZES=NM_207181.2:2199,NM_001128179.1:1845,NM_001128178.1:2034,NM_000272.3:2202;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=182;ESP6500_EA_AC=2774,5826;ESP6500_EA_AGE=678.1+/-403.4;ESP6500_EA_GTC=459,1856,1985;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207181.2:coding-synonymous,NM_001128179.1:coding-synonymous,NM_001128178.1:coding-synonymous,NM_000272.3:coding-synonymous;ESP6500_GL=NPHP1;ESP6500_GRCh38_POSITION=2:110165126;ESP6500_GTC=993,2941,2569;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207181.2:c.654G>A,NM_001128179.1:c.468G>A,NM_001128178.1:c.654G>A,NM_000272.3:c.654G>A;ESP6500_HGVS_PROTEIN_VAR=NM_207181.2:p.(E218),NM_001128179.1:p.(E156),NM_001128178.1:p.(E218),NM_000272.3:p.(E218);ESP6500_MAF=32.2558,48.8652,37.8825;ESP6500_TAC=4927,8079;CLINVAR_AF_ESP=0.3788;CLINVAR_AF_EXAC=0.37931;CLINVAR_AF_TGP=0.4744;CLINVAR_ALLELEID=98626;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED_CT:253175003,SNOMED_CT:716997004|MedGen:C0687120,Orphanet:ORPHA655,SNOMED_CT:204958008|MedGen:CN117960,Orphanet:ORPHA3156,SNOMED_CT:236531005|MedGen:CN169374;CLINVAR_CLNDN=Joubert_syndrome|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.110165126C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25619;CLINVAR_GENEINFO=NPHP1:4867;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11675767	GT:AD:DP:GQ:PL	0/1:28,19:47:99:342,0,657
chr2	110178290	rs2271245	A	G	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.383;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271245;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|4/19|c.329+133T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|4/19|c.329+133T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|2/17|c.144-8292T>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|4/19|c.329+133T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1901;p3_1000G_AF=0.379593;p3_1000G_AFR_AF=0.1846;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=17514;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110935867;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:70:73,0,70
chr2	110202321	rs11240794	C	G	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.44;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=1.38;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11240794;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_000272.3|protein_coding|1/19|c.70-827G>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128178.1|protein_coding|1/19|c.70-827G>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_001128179.1|protein_coding|1/17|c.70-827G>C||||||,G|intron_variant|MODIFIER|NPHP1|NPHP1|transcript|NM_207181.2|protein_coding|1/19|c.70-827G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1902;p3_1000G_AF=0.379792;p3_1000G_AFR_AF=0.1846;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=18721;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.3022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=110959898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,9:16:99:234,0,215
chr2	110639660	rs112515450	CT	C	76.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.233;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.2;ReadPosRankSum=-0.764;SOR=0.412;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs112515450;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|BUB1|BUB1|transcript|NM_004336.4|protein_coding|24/24|c.3062+81delA||||||,C|intron_variant|MODIFIER|BUB1|BUB1|transcript|NM_001278616.1|protein_coding|23/23|c.3002+81delA||||||,C|intron_variant|MODIFIER|BUB1|BUB1|transcript|NM_001278617.1|protein_coding|23/23|c.2891+81delA||||||	GT:AD:DP:GQ:PL	0/1:17,7:24:99:114,0,376
chr2	110841381	rs1554005	C	T	450.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.197;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.508;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-1.102;SOR=1.106;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1554005;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|10/18|c.764C>T|p.Thr255Met|988/2373|764/1743|255/580||;p3_1000G_AA=C|||;p3_1000G_AC=916;p3_1000G_AF=0.182907;p3_1000G_AFR_AF=0.1467;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=19499;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.1809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111598958;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=705,3699;ESP6500_AA_AGE=289.8+/-280.6;ESP6500_AA_GTC=66,573,1563;ESP6500_CDS_SIZES=NM_001142807.1:1743;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=148;ESP6500_EA_AC=1618,6978;ESP6500_EA_AGE=297.0+/-303.2;ESP6500_EA_GTC=162,1294,2842;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001142807.1:missense;ESP6500_GL=ACOXL;ESP6500_GRCh38_POSITION=2:110841381;ESP6500_GS=81;ESP6500_GTC=228,1867,4405;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001142807.1:c.764C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001142807.1:p.(T255M);ESP6500_MAF=18.8227,16.0082,17.8692;ESP6500_PH=possibly-damaging:0.672;ESP6500_TAC=2323,10677	GT:AD:DP:GQ:PL	0/1:27,20:47:99:479,0,664
chr2	110886898	rs10188079	C	T	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.251;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.631;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10188079;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|10/17|c.789-21891C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1247;p3_1000G_AF=0.249002;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=20935;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111644475;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,16:33:99:428,0,456
chr2	110886914	rs66815319	TA	T	443.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.118;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-1.612;SOR=0.473;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs66815319;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|10/17|c.789-21873delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=A|AA|A|insertion;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=21265;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.3867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111644491;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:12,15:27:99:481,0,368
chr2	110963565	rs139200296	ATGTGTGTGTGTGTGTGTGTG	A	469.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=10.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.57;ReadPosRankSum=-1.458;SOR=3.682;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs139200296;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|12/17|c.1060-23523_1060-23504delGTGTGTGTGTGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:11,13:24:99:507,0,546
chr2	110987230	rs3747659	C	T	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.816;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-0.164;SOR=0.497;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747659;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|13/17|c.1169+13C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=250;p3_1000G_AF=0.0499201;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=19959;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111744807;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=28,4376;ESP6500_AA_GTC=0,28,2174;ESP6500_CDS_SIZES=NM_001142807.1:1743;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=75;ESP6500_EA_AC=287,8299;ESP6500_EA_GTC=4,279,4010;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001142807.1:intron;ESP6500_GL=ACOXL;ESP6500_GRCh38_POSITION=2:110987230;ESP6500_GTC=4,307,6184;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001142807.1:c.1169+13C>T;ESP6500_MAF=3.3427,0.6358,2.4249;ESP6500_TAC=315,12675	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,15:36:99:0|1:110987230_C_T:375,0,611
chr2	110995872	rs3761707	G	C	453.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.5;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3761707;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|13/17|c.1170-21G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2199;p3_1000G_AF=0.439097;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=18068;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111753449;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1585,2821;ESP6500_AA_AGE=494.6+/-363.0;ESP6500_AA_GTC=290,1005,908;ESP6500_CDS_SIZES=NM_001142807.1:1743;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=93;ESP6500_EA_AC=4299,4301;ESP6500_EA_AGE=577.2+/-390.5;ESP6500_EA_GTC=1076,2147,1077;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001142807.1:intron;ESP6500_GL=ACOXL;ESP6500_GRCh38_POSITION=2:110995872;ESP6500_GTC=1366,3152,1985;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001142807.1:c.1170-21G>C;ESP6500_MAF=49.9884,35.9737,45.2407;ESP6500_TAC=5884,7122	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:110995872_G_C:482,36,0
chr2	111031515	rs3789090	G	A	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.67;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=4.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.502;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3789090;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|14/17|c.1282-112G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2065;p3_1000G_AF=0.41234;p3_1000G_AFR_AF=0.5045;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=21689;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.3827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111789092;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,17:31:99:449,0,478
chr2	111049450	rs3789069	C	T	150.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3789069;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|16/17|c.1440+162C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1861;p3_1000G_AF=0.371605;p3_1000G_AFR_AF=0.3979;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=17740;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111807027;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:179,15,0
chr2	111092938	rs17041850	C	T	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.779;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=0.851;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17041850;dbSNPBuildID=123;ANN=T|missense_variant|MODERATE|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|17/18|c.1514C>T|p.Pro505Leu|1738/2373|1514/1743|505/580||;p3_1000G_AA=C|||;p3_1000G_AC=373;p3_1000G_AF=0.0744808;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=15389;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.0378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111850515;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=95,4311;ESP6500_AA_AGE=76.8+/-115.0;ESP6500_AA_GTC=0,95,2108;ESP6500_CDS_SIZES=NM_001142807.1:1743;ESP6500_CG=6.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=93;ESP6500_EA_AC=412,8188;ESP6500_EA_AGE=130.3+/-188.3;ESP6500_EA_GTC=11,390,3899;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001142807.1:missense;ESP6500_GL=ACOXL;ESP6500_GRCh38_POSITION=2:111092938;ESP6500_GS=98;ESP6500_GTC=11,485,6007;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001142807.1:c.1514C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001142807.1:p.(P505L);ESP6500_MAF=4.7907,2.1562,3.8982;ESP6500_PH=probably-damaging:0.978;ESP6500_TAC=507,12499	GT:AD:DP:GQ:PL	0/1:5,12:17:89:335,0,89
chr2	111093635	rs13025330	C	T	729.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13025330;dbSNPBuildID=121;ANN=T|downstream_gene_variant|MODIFIER|LOC400997|LOC400997|transcript|NR_122074.1|pseudogene||n.*4706G>A|||||4706|,T|intron_variant|MODIFIER|ACOXL|ACOXL|transcript|NM_001142807.1|protein_coding|17/17|c.1542+669C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1128;p3_1000G_AF=0.22524;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=19627;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111851212;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:758,66,0
chr2	111124293	rs879249342	CT	C	40.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=1.72;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72304848;dbSNPBuildID=147;ANN=C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138621.4|protein_coding|2/3|c.394+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_207002.3|protein_coding|3/3|c.214+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204113.1|protein_coding|3/5|c.214+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204106.1|protein_coding|2/3|c.124+440delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204107.1|protein_coding|2/5|c.124+440delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204108.1|protein_coding|2/4|c.394+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204109.1|protein_coding|2/3|c.394+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204110.1|protein_coding|2/4|c.124+440delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204111.1|protein_coding|3/3|c.214+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204112.1|protein_coding|3/4|c.214+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_006538.4|protein_coding|3/4|c.214+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138622.3|protein_coding|2/4|c.394+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138623.3|protein_coding|3/5|c.214+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138624.3|protein_coding|2/4|c.394+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138625.3|protein_coding|2/4|c.124+440delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138626.3|protein_coding|2/2|c.394+170delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138627.3|protein_coding|2/2|c.124+440delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_207003.2|protein_coding|2/4|c.124+440delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,4:7:38:78,0,38
chr2	111128603	rs200489083;rs58812324	CT	C	117.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.947;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.61;ReadPosRankSum=0.817;SOR=0.804;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs58812324,rs200489083;dbSNPBuildID=137,129;ANN=C|splice_region_variant&intron_variant|LOW|BCL2L11|BCL2L11|transcript|NM_207002.3|protein_coding|3/3|c.215-6delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138621.4|protein_coding|2/3|c.394+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204113.1|protein_coding|3/5|c.214+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204106.1|protein_coding|2/3|c.124+4752delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204107.1|protein_coding|2/5|c.124+4752delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204108.1|protein_coding|2/4|c.394+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204109.1|protein_coding|2/3|c.394+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204110.1|protein_coding|2/4|c.124+4752delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204111.1|protein_coding|3/3|c.214+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204112.1|protein_coding|3/4|c.214+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_006538.4|protein_coding|3/4|c.214+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138622.3|protein_coding|2/4|c.394+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138623.3|protein_coding|3/5|c.214+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138624.3|protein_coding|2/4|c.394+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138625.3|protein_coding|2/4|c.125-1511delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138626.3|protein_coding|2/2|c.394+4482delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138627.3|protein_coding|2/2|c.124+4752delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_207003.2|protein_coding|2/4|c.124+4752delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:12,9:21:99:155,0,211
chr2	111130109	rs753639383	CT	C	96.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.182;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.218;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=-0.356;SOR=0.43;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|splice_region_variant&intron_variant|LOW|BCL2L11|BCL2L11|transcript|NM_138625.3|protein_coding|2/4|c.125-8delT||||||INFO_REALIGN_3_PRIME,C|downstream_gene_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_207002.3|protein_coding||c.*1359delT|||||1264|,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138621.4|protein_coding|2/3|c.394+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204113.1|protein_coding|3/5|c.214+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204106.1|protein_coding|2/3|c.124+6255delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204107.1|protein_coding|2/5|c.124+6255delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204108.1|protein_coding|2/4|c.394+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204109.1|protein_coding|2/3|c.394+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204110.1|protein_coding|2/4|c.124+6255delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204111.1|protein_coding|3/3|c.214+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204112.1|protein_coding|3/4|c.214+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_006538.4|protein_coding|3/4|c.214+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138622.3|protein_coding|2/4|c.394+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138623.3|protein_coding|3/5|c.214+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138624.3|protein_coding|2/4|c.394+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138626.3|protein_coding|2/2|c.394+5985delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138627.3|protein_coding|2/2|c.124+6255delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_207003.2|protein_coding|2/4|c.124+6255delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:24,9:33:99:134,0,541
chr2	111130126	rs4849417	T	A	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.688;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.739;SOR=0.733;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4849417;dbSNPBuildID=111;ANN=A|splice_region_variant&intron_variant|LOW|BCL2L11|BCL2L11|transcript|NM_138625.3|protein_coding|2/4|c.125-6T>A||||||,A|downstream_gene_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_207002.3|protein_coding||c.*1375T>A|||||1280|,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138621.4|protein_coding|2/3|c.394+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204113.1|protein_coding|3/5|c.214+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204106.1|protein_coding|2/3|c.124+6257T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204107.1|protein_coding|2/5|c.124+6257T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204108.1|protein_coding|2/4|c.394+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204109.1|protein_coding|2/3|c.394+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204110.1|protein_coding|2/4|c.124+6257T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204111.1|protein_coding|3/3|c.214+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204112.1|protein_coding|3/4|c.214+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_006538.4|protein_coding|3/4|c.214+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138622.3|protein_coding|2/4|c.394+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138623.3|protein_coding|3/5|c.214+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138624.3|protein_coding|2/4|c.394+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138626.3|protein_coding|2/2|c.394+5987T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138627.3|protein_coding|2/2|c.124+6257T>A||||||,A|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_207003.2|protein_coding|2/4|c.124+6257T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2514;p3_1000G_AF=0.501997;p3_1000G_AFR_AF=0.6505;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=13968;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.5358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111887703;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,21:46:99:418,0,599
chr2	111150114	rs724710	T	C	1962.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=1.034;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs724710;dbSNPBuildID=86;ANN=C|protein_protein_contact|HIGH|BCL2L11|BCL2L11|interaction|3IO8:C_97-D_65:NM_138578.2-NM_001204106.1|protein_coding|3/4|c.195T>C||||||,C|protein_protein_contact|HIGH|BCL2L11|BCL2L11|interaction|3IO8:C_97-D_65:NM_138578.2-NM_001204107.1|protein_coding|3/6|c.195T>C||||||,C|protein_protein_contact|HIGH|BCL2L11|BCL2L11|interaction|3IO8:C_97-D_65:NM_138578.2-NM_001204110.1|protein_coding|3/5|c.195T>C||||||,C|protein_protein_contact|HIGH|BCL2L11|BCL2L11|interaction|3IO8:C_97-D_65:NM_138578.2-NM_207003.2|protein_coding|3/5|c.195T>C||||||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_138621.4|protein_coding|3/4|c.465T>C|p.Ile155Ile|753/5099|465/597|155/198||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_001204106.1|protein_coding|3/4|c.195T>C|p.Ile65Ile|483/4829|195/327|65/108||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_001204107.1|protein_coding|3/6|c.195T>C|p.Ile65Ile|483/5026|195/258|65/85||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_001204108.1|protein_coding|3/5|c.465T>C|p.Ile155Ile|753/5231|465/519|155/172||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_001204110.1|protein_coding|3/5|c.195T>C|p.Ile65Ile|483/4961|195/249|65/82||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_006538.4|protein_coding|4/5|c.285T>C|p.Ile95Ile|573/4919|285/417|95/138||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_138622.3|protein_coding|3/5|c.465T>C|p.Ile155Ile|753/5224|465/510|155/169||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_138623.3|protein_coding|4/6|c.285T>C|p.Ile95Ile|573/5044|285/330|95/109||,C|synonymous_variant|LOW|BCL2L11|BCL2L11|transcript|NM_207003.2|protein_coding|3/5|c.195T>C|p.Ile65Ile|483/4954|195/240|65/79||,C|3_prime_UTR_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138624.3|protein_coding|4/5|c.*90T>C|||||5613|,C|3_prime_UTR_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138625.3|protein_coding|4/5|c.*83T>C|||||19879|,C|downstream_gene_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204113.1|protein_coding||c.*5623T>C|||||3830|,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204109.1|protein_coding|2/3|c.395-3666T>C||||||,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204111.1|protein_coding|3/3|c.215-14019T>C||||||,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204112.1|protein_coding|3/4|c.215-3666T>C||||||,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138626.3|protein_coding|2/2|c.395-14019T>C||||||,C|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138627.3|protein_coding|2/2|c.125-14019T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3468;p3_1000G_AF=0.692492;p3_1000G_AFR_AF=0.8011;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=19042;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111907691;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3469,937;ESP6500_AA_AGE=357.4+/-313.9;ESP6500_AA_GTC=1378,713,112;ESP6500_CDS_SIZES=NM_207003.2:240,NM_138627.3:138,NM_138626.3:408,NM_138625.3:228,NM_138624.3:408,NM_138623.3:330,NM_138622.3:510,NM_138621.4:597,NM_006538.4:417,NM_001204112.1:243,NM_001204111.1:228,NM_001204110.1:249,NM_001204109.1:423,NM_001204108.1:519,NM_001204107.1:258,NM_001204106.1:327;ESP6500_CG=-5.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=131;ESP6500_EA_AC=5787,2813;ESP6500_EA_AGE=444.5+/-360.7;ESP6500_EA_GTC=1955,1877,468;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207003.2:coding-synonymous,NM_138627.3:intron,NM_138626.3:intron,NM_138625.3:utr-3,NM_138624.3:utr-3,NM_138623.3:coding-synonymous,NM_138622.3:coding-synonymous,NM_138621.4:coding-synonymous,NM_006538.4:coding-synonymous,NM_001204112.1:intron,NM_001204111.1:intron,NM_001204110.1:coding-synonymous,NM_001204109.1:intron,NM_001204108.1:coding-synonymous,NM_001204107.1:coding-synonymous,NM_001204106.1:coding-synonymous;ESP6500_GL=BCL2L11;ESP6500_GRCh38_POSITION=2:111150114;ESP6500_GTC=3333,2590,580;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207003.2:c.195T>C,NM_138627.3:c.125-14019T>C,NM_138626.3:c.395-14019T>C,NM_138625.3:c.*19879T>C,NM_138624.3:c.*5613T>C,NM_138623.3:c.285T>C,NM_138622.3:c.465T>C,NM_138621.4:c.465T>C,NM_006538.4:c.285T>C,NM_001204112.1:c.215-3666T>C,NM_001204111.1:c.215-14019T>C,NM_001204110.1:c.195T>C,NM_001204109.1:c.395-3666T>C,NM_001204108.1:c.465T>C,NM_001204107.1:c.195T>C,NM_001204106.1:c.195T>C;ESP6500_HGVS_PROTEIN_VAR=NM_207003.2:p.(I65),.,.,.,.,NM_138623.3:p.(I95),NM_138622.3:p.(I155),NM_138621.4:p.(I155),NM_006538.4:p.(I95),.,.,NM_001204110.1:p.(I65),.,NM_001204108.1:p.(I155),NM_001204107.1:p.(I65),NM_001204106.1:p.(I65);ESP6500_MAF=32.7093,21.2665,28.8328;ESP6500_TAC=9256,3750	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1991,177,0
chr2	111151670	rs3789068	A	G	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.92;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.034;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3789068;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138621.4|protein_coding|3/3|c.498+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204106.1|protein_coding|3/3|c.228+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204107.1|protein_coding|3/5|c.229-152A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204108.1|protein_coding|3/4|c.498+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204109.1|protein_coding|2/3|c.395-2110A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204110.1|protein_coding|3/4|c.228+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204111.1|protein_coding|3/3|c.215-12463A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_001204112.1|protein_coding|3/4|c.215-2110A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_006538.4|protein_coding|4/4|c.318+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138622.3|protein_coding|3/4|c.498+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138623.3|protein_coding|4/5|c.318+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138624.3|protein_coding|4/4|c.*123+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138625.3|protein_coding|4/4|c.*116+1523A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138626.3|protein_coding|2/2|c.395-12463A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_138627.3|protein_coding|2/2|c.125-12463A>G||||||,G|intron_variant|MODIFIER|BCL2L11|BCL2L11|transcript|NM_207003.2|protein_coding|3/4|c.228+1523A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1765;p3_1000G_AF=0.352436;p3_1000G_AFR_AF=0.3359;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=19137;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.4622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=111909247;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:256,0,205
chr2	111769289	rs1044864	G	A	56.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.297;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=29.61;MQRankSum=2.6;QD=2.84;ReadPosRankSum=1.67;SOR=1.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs137999262;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|48/48|c.*2C>T|||||2|,A|downstream_gene_variant|MODIFIER|MIR4771-1|MIR4771-1.2|transcript|NR_039928.1.2|pseudogene||n.*1772C>T|||||1772|,A|downstream_gene_variant|MODIFIER|MIR4771-2|MIR4771-2.2|transcript|NR_039929.1.2|pseudogene||n.*1772C>T|||||1772|;p3_1000G_AA=G|||;p3_1000G_AC=780;p3_1000G_AF=0.155751;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=19655;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112526866;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,5:20:85:85,0,346
chr2	111778687	rs939797;rs76115652	G	T	167.84	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.46;QD=27.97;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76115652;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|45/48|c.5373C>A|p.Ile1791Ile|5620/7736|5373/5835|1791/1944||;ESP6500_AA=T;ESP6500_AA_AC=4361,35;ESP6500_AA_GTC=2173,15,10;ESP6500_CDS_SIZES=NM_022662.3:5835;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=28;ESP6500_EA_AC=8537,1;ESP6500_EA_GTC=4268,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022662.3:coding-synonymous;ESP6500_GL=ANAPC1;ESP6500_GRCh38_POSITION=2:111778687;ESP6500_GTC=6441,16,10;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_022662.3:c.5373C>A;ESP6500_HGVS_PROTEIN_VAR=NM_022662.3:p.(I1791);ESP6500_MAF=0.0117,0.7962,0.2783;ESP6500_TAC=12898,36	GT:AD:DP:GQ:PL	1/1:0,6:6:18:196,18,0
chr2	111784067	rs2245224	C	G	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.605;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=7.404;MLEAC=1;MLEAF=0.5;MQ=50.08;MQRankSum=-2.166;QD=4.07;ReadPosRankSum=0.349;SOR=2.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202016623;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|41/47|c.4996-103G>C||||||	GT:AD:DP:GQ:PL	0/1:8,3:11:73:73,0,299
chr2	111784237	rs62164158	T	A	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.682;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=8.475;MLEAC=1;MLEAF=0.5;MQ=49.66;MQRankSum=-3.744;QD=3.75;ReadPosRankSum=0.175;SOR=3.18;SNP;HET;VARTYPE=SNP;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|41/47|c.4995+86A>T||||||	GT:AD:DP:GQ:PL	0/1:22,7:29:99:137,0,641
chr2	111794850	rs56780932	C	T	112.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.135;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.12;MQRankSum=-1.803;QD=14.1;ReadPosRankSum=1.24;SOR=0.799;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs190739040;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|35/48|c.4341G>A|p.Pro1447Pro|4588/7736|4341/5835|1447/1944||;p3_1000G_AA=C|||;p3_1000G_AC=726;p3_1000G_AF=0.144968;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=19157;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112552427;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:89:141,0,89
chr2	111802513	rs142711068	G	A	115.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.27;MQRankSum=-0.566;QD=16.54;ReadPosRankSum=1.07;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142711068;dbSNPBuildID=134;ANN=A|splice_region_variant&intron_variant|LOW|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|32/47|c.4143-7C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1003;p3_1000G_AF=0.20028;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=18397;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.2376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112560090;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:52:144,0,52
chr2	111808940	rs201128688	C	T	105.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.284;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=28.68;MQRankSum=0.086;QD=8.81;ReadPosRankSum=-0.674;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201128688;dbSNPBuildID=137;ANN=T|splice_region_variant&intron_variant|LOW|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|29/47|c.3832+7G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=960;p3_1000G_AF=0.191693;p3_1000G_AFR_AF=0.18;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=19877;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112566517;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:134,0,137
chr2	111821217	rs71258290;rs201745139	T	C	48.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.01;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=38.27;MQRankSum=-0.563;QD=4.06;ReadPosRankSum=-0.971;SOR=0.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201745139;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|26/47|c.3206+22A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=734;p3_1000G_AF=0.146565;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=21308;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112578794;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=157,3423;ESP6500_AA_GTC=6,145,1639;ESP6500_CDS_SIZES=NM_022662.3:5835;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=3;ESP6500_EA_AC=1178,5922;ESP6500_EA_GTC=71,1036,2443;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022662.3:intron;ESP6500_GL=ANAPC1;ESP6500_GRCh38_POSITION=2:111821217;ESP6500_GTC=77,1181,4082;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022662.3:c.3206+22A>G;ESP6500_MAF=16.5915,4.3855,12.5;ESP6500_TAC=1335,9345	GT:AD:DP:GQ:PL	0/1:8,4:12:77:77,0,234
chr2	111825189	rs60136848	CTT	C	14.87	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=-0.282;SOR=2.303;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs60136848;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|22/47|c.2705-24_2705-23delAA||||||;p3_1000G_AC=960;p3_1000G_AF=0.191693;p3_1000G_AFR_AF=0.1808;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=20431;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112582766;p3_1000G_GRCH37_REF=CTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=INDEL;ESP6500_AA_AC=855,3351;ESP6500_AA_GTC=101,653,1349;ESP6500_CDS_SIZES=NM_022662.3:5835;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=58;ESP6500_EA_AC=2078,6152;ESP6500_EA_GTC=285,1508,2322;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022662.3:intron;ESP6500_GL=ANAPC1;ESP6500_GRCh38_POSITION=2:111825189;ESP6500_GTC=386,2161,3671;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_022662.3:c.2705-24_2705-23del2;ESP6500_MAF=25.2491,20.3281,23.5848;ESP6500_TAC=2933,9503	GT:AD:DP:GQ:PL	0/1:8,2:10:52:52,0,347
chr2	111825899	rs12614297	C	T	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=59.01;MQRankSum=-2.233;QD=7.04;ReadPosRankSum=0.27;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12614297;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|21/47|c.2626-44G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=785;p3_1000G_AF=0.156749;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=16542;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112583476;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=397,4005;ESP6500_AA_GTC=14,369,1818;ESP6500_CDS_SIZES=NM_022662.3:5835;ESP6500_CG=-0.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=2054,6546;ESP6500_EA_GTC=260,1534,2506;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022662.3:intron;ESP6500_GL=ANAPC1;ESP6500_GRCh38_POSITION=2:111825899;ESP6500_GTC=274,1903,4324;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022662.3:c.2626-44G>A;ESP6500_MAF=23.8837,9.0186,18.8509;ESP6500_TAC=2451,10551	GT:AD:DP:GQ:PL	0/1:11,7:18:99:155,0,237
chr2	111831174	rs7587482	C	T	150.81	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.3;MQRankSum=-0.792;QD=21.54;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7587482;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|21/47|c.2625+112G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2821;p3_1000G_AF=0.563299;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=18672;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112588751;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,6:7:20:179,0,20
chr2	111831503	rs11675449	G	A	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.697;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=40;MQRankSum=0;QD=15.25;ReadPosRankSum=-1.579;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11675449;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|20/47|c.2477-69C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=800;p3_1000G_AF=0.159744;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.1686;p3_1000G_AN=5008;p3_1000G_DP=17424;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112589080;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:86:135,0,86
chr2	111833412	rs3761697	A	T	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.52;MQRankSum=-0.765;QD=8.64;ReadPosRankSum=-0.819;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3761697;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|19/47|c.2385-101T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2945;p3_1000G_AF=0.588059;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=16249;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.663;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112590989;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:106,0,135
chr2	111834532	rs375868159	ACAAGGT	A	141.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.615;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.96;MQRankSum=-3.613;QD=9.45;ReadPosRankSum=-2.218;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs375868159;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|19/47|c.2384+66_2384+71delACCTTG||||||;p3_1000G_AC=1914;p3_1000G_AF=0.382188;p3_1000G_AFR_AF=0.1846;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=13185;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112592109;p3_1000G_GRCH37_REF=ACAAGGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,4:15:99:0|1:111834532_ACAAGGT_A:179,0,1613
chr2	111834540	rs370010910	CCTAT	C	138.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.395;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.4;MQRankSum=-3.789;QD=7.71;ReadPosRankSum=-2.075;SOR=0.619;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs370010910;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|19/47|c.2384+60_2384+63delATAG||||||;p3_1000G_AC=1919;p3_1000G_AF=0.383187;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=12755;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112592117;p3_1000G_GRCH37_REF=CCTAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,6:18:99:0|1:111834532_ACAAGGT_A:176,0,1649
chr2	111847108	rs71413401	T	C	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.404;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.04;MQRankSum=0.628;QD=5.86;ReadPosRankSum=-0.669;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71413401;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|16/47|c.1852+30A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=735;p3_1000G_AF=0.146765;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.1686;p3_1000G_AN=5008;p3_1000G_DP=19432;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112604685;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=265,4033;ESP6500_AA_GTC=10,245,1894;ESP6500_CDS_SIZES=NM_022662.3:5835;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=20;ESP6500_EA_AC=1932,6518;ESP6500_EA_GTC=226,1480,2519;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022662.3:intron;ESP6500_GL=ANAPC1;ESP6500_GRCh38_POSITION=2:111847108;ESP6500_GTC=236,1725,4413;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022662.3:c.1852+30A>G;ESP6500_MAF=22.8639,6.1657,17.2341;ESP6500_TAC=2197,10551	GT:AD:DP:GQ:PL	0/1:15,8:23:99:163,0,385
chr2	111847725	rs4848197	C	T	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.94;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.03;MQRankSum=-3.888;QD=7.4;ReadPosRankSum=0.731;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4848197;dbSNPBuildID=111;ANN=T|splice_region_variant&synonymous_variant|LOW|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|15/48|c.1791G>A|p.Leu597Leu|2038/7736|1791/5835|597/1944||;p3_1000G_AA=T|||;p3_1000G_AC=2817;p3_1000G_AF=0.5625;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=14621;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112605302;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:154,0,328
chr2	111847888	rs4848800	T	C	604.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.31;QD=33.6;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4848800;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|14/47|c.1651-23A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4985;p3_1000G_AF=0.995407;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20520;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112605465;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4351,49;ESP6500_AA_AGE=46.7+/-81.2;ESP6500_AA_GTC=2152,47,1;ESP6500_CDS_SIZES=NM_022662.3:5835;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=34;ESP6500_EA_AC=8596,0;ESP6500_EA_GTC=4298,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022662.3:intron;ESP6500_GL=ANAPC1;ESP6500_GRCh38_POSITION=2:111847888;ESP6500_GTC=6450,47,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022662.3:c.1651-23A>G;ESP6500_MAF=0.0,1.1136,0.377;ESP6500_TAC=12947,49	GT:AD:DP:GQ:PL	1/1:0,18:18:54:633,54,0
chr2	111850846	rs147684628	C	T	60.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.529;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.39;MQRankSum=-3.19;QD=1.74;ReadPosRankSum=1.35;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147684628;dbSNPBuildID=137;ANN=T|missense_variant|MODERATE|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|14/48|c.1580G>A|p.Arg527Gln|1827/7736|1580/5835|527/1944||	GT:AD:DP:GQ:PL	0/1:28,7:35:89:89,0,718
chr2	111863622	rs11689168	T	C	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.34;MQRankSum=-0.887;QD=8.85;ReadPosRankSum=-1.611;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11689168;dbSNPBuildID=120;ANN=C|sequence_feature|MODERATE|ANAPC1|ANAPC1|modified-residue:phosphoserine|NM_022662.3|protein_coding|9/47|c.1052+53A>G||||||,C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|9/47|c.1052+53A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=815;p3_1000G_AF=0.16274;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=17722;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112621199;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:99,0,139
chr2	111863921	rs397985470;rs553121001;rs70962959	GA	G	138.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.471;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=59.77;MQRankSum=-0.431;QD=11.56;ReadPosRankSum=0.163;SOR=0.086;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs70962959;dbSNPBuildID=137,142,138;ANN=G|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|8/47|c.832-27delT||||||	GT:AD:DP:GQ:PL	0/1:4,8:12:70:176,0,70
chr2	111864664	rs13430062	G	A	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.018;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=54.37;MQRankSum=1.07;QD=15.28;ReadPosRankSum=-1.803;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13430062;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|8/47|c.831+142C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2822;p3_1000G_AF=0.563498;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=13441;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112622241;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:181,0,107
chr2	111867998	rs6742515	T	C	28.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.8;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6742515;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|7/47|c.685+25A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2820;p3_1000G_AF=0.563099;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=15599;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112625575;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1820,2586;ESP6500_AA_AGE=510.4+/-367.5;ESP6500_AA_GTC=401,1018,784;ESP6500_CDS_SIZES=NM_022662.3:5835;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=36;ESP6500_EA_AC=5726,2868;ESP6500_EA_AGE=661.6+/-401.9;ESP6500_EA_GTC=1894,1938,465;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022662.3:intron;ESP6500_GL=ANAPC1;ESP6500_GRCh38_POSITION=2:111867998;ESP6500_GTC=2295,2956,1249;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022662.3:c.685+25A>G;ESP6500_MAF=33.3721,41.3073,41.9538;ESP6500_TAC=7546,5454	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,2:8:57:1|0:111867978_CA_C:57,0,192
chr2	111872835	rs4848826	A	C	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.78;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=44.93;MQRankSum=0;QD=15.18;ReadPosRankSum=1.03;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141064868;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|5/47|c.529-123T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2766;p3_1000G_AF=0.552316;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs141064868;p3_1000G_DP=19296;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112630412;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:180,0,151
chr2	111880940	rs4132166	G	C	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.03;MQRankSum=-0.674;QD=8.44;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4132166;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|ANAPC1|ANAPC1|transcript|NM_022662.3|protein_coding|1/47|c.-24-91C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2849;p3_1000G_AF=0.56889;p3_1000G_AFR_AF=0.3623;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=21333;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112638517;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:39:62,0,39
chr2	111929411	rs13027171;95371	G	A	1191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.191;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=0.681;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.075;SOR=0.579;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13027171;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|MERTK|MERTK|transcript|NM_006343.2|protein_coding|2/19|c.353G>A|p.Ser118Asn|475/3626|353/3000|118/999||;p3_1000G_AA=G|||;p3_1000G_AC=842;p3_1000G_AF=0.168131;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=15437;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.2853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112686988;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=307,4099;ESP6500_AA_AGE=165.4+/-196.9;ESP6500_AA_GTC=12,283,1908;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=112;ESP6500_EA_AC=2579,6021;ESP6500_EA_AGE=418.8+/-352.9;ESP6500_EA_GTC=387,1805,2108;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006343.2:missense;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111929411;ESP6500_GS=46;ESP6500_GTC=399,2088,4016;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.353G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006343.2:p.(S118N);ESP6500_MAF=29.9884,6.9678,22.1898;ESP6500_PH=benign:0.001;ESP6500_TAC=2886,10120;CLINVAR_AF_ESP=0.2219;CLINVAR_AF_EXAC=0.23129;CLINVAR_AF_TGP=0.1681;CLINVAR_ALLELEID=101270;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.111929411G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25656|UniProtKB_(protein):Q12866#VAR_021040;CLINVAR_GENEINFO=MERTK:10461;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13027171	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1220,0,1793
chr2	111945070	rs11683694;330743	C	T	614.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.171;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=6.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=-0.344;SOR=0.11;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11683694;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|3/18|c.583+10C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=955;p3_1000G_AF=0.190695;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=19644;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112702647;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=643,3763;ESP6500_AA_AGE=275.7+/-272.7;ESP6500_AA_GTC=46,551,1606;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=2591,6009;ESP6500_EA_AGE=419.8+/-353.2;ESP6500_EA_GTC=391,1809,2100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006343.2:intron;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111945070;ESP6500_GTC=437,2360,3706;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.583+10C>T;ESP6500_MAF=30.1279,14.5937,24.8654;ESP6500_TAC=3234,9772;CLINVAR_AF_ESP=0.2487;CLINVAR_AF_EXAC=0.23955;CLINVAR_AF_TGP=0.1907;CLINVAR_ALLELEID=283716;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.111945070C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25666;CLINVAR_GENEINFO=MERTK:10461;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11683694	GT:AD:DP:GQ:PL	0/1:8,24:32:99:643,0,207
chr2	111947580	rs3761701;330746	T	C	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.83;SOR=0.374;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3761701;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|4/18|c.757+13T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2578;p3_1000G_AF=0.514776;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=19481;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112705157;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2230,2176;ESP6500_AA_GTC=565,1100,538;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=38;ESP6500_EA_AC=5374,3226;ESP6500_EA_GTC=1704,1966,630;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006343.2:intron;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111947580;ESP6500_GTC=2269,3066,1168;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.757+13T>C;ESP6500_MAF=37.5116,49.3872,41.5347;ESP6500_TAC=7604,5402;CLINVAR_ALLELEID=283717;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.111947580T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25626;CLINVAR_GENEINFO=MERTK:10461;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3761701	GT:AD:DP:GQ:PL	0/1:18,16:34:99:436,0,484
chr2	111947608	rs3761700	G	T	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.29;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.624;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.463;SOR=0.248;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3761700;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|4/18|c.757+41G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2464;p3_1000G_AF=0.492013;p3_1000G_AFR_AF=0.5166;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=19790;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.5447;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112705185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2237,2163;ESP6500_AA_GTC=577,1083,540;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=23;ESP6500_EA_AC=4678,3916;ESP6500_EA_GTC=1281,2116,900;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006343.2:intron;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111947608;ESP6500_GTC=1858,3199,1440;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.757+41G>T;ESP6500_MAF=45.5667,49.1591,46.7831;ESP6500_TAC=6915,6079	GT:AD:DP:GQ:PL	0/1:14,11:25:99:295,0,414
chr2	111968107	rs113538397	A	ATGTGTGTG	742.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.89;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=0.647;SOR=0.836;INS;HET;VARTYPE=INS;dbSNPBuildID=132;ANN=ATGTGTGTG|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|5/18|c.845-22_845-15dupGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:28,21:49:99:780,0,1680
chr2	111982796	rs1996323	G	A	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.214;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.21;ReadPosRankSum=1.76;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1996323;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|7/18|c.1145-46G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2811;p3_1000G_AF=0.561302;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=20870;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112740373;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2861,1545;ESP6500_AA_AGE=655.8+/-400.0;ESP6500_AA_GTC=933,995,275;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=120;ESP6500_EA_AC=5387,3213;ESP6500_EA_AGE=648.8+/-400.5;ESP6500_EA_GTC=1704,1979,617;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006343.2:intron;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111982796;ESP6500_GTC=2637,2974,892;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.1145-46G>A;ESP6500_MAF=37.3605,35.0658,36.5831;ESP6500_TAC=8248,4758	GT:AD:DP:GQ:PL	0/1:27,10:37:99:184,0,774
chr2	111994351	rs7604639;330754	G	A	460.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.44;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=1.23;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7604639;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|MERTK|MERTK|transcript|NM_006343.2|protein_coding|9/19|c.1397G>A|p.Arg466Lys|1519/3626|1397/3000|466/999||;p3_1000G_AA=A|||;p3_1000G_AC=2812;p3_1000G_AF=0.561502;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=19456;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112751928;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2858,1548;ESP6500_AA_AGE=488.1+/-361.1;ESP6500_AA_GTC=928,1002,273;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=147;ESP6500_EA_AC=5388,3212;ESP6500_EA_AGE=484.9+/-371.5;ESP6500_EA_GTC=1704,1980,616;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006343.2:missense;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111994351;ESP6500_GS=26;ESP6500_GTC=2632,2982,889;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.1397G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006343.2:p.(R466K);ESP6500_MAF=37.3488,35.1339,36.5985;ESP6500_PH=benign:0.0;ESP6500_TAC=8246,4760;CLINVAR_ALLELEID=281580;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.111994351G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25636|UniProtKB_(protein):Q12866#VAR_021043;CLINVAR_GENEINFO=MERTK:10461;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7604639	GT:AD:DP:GQ:PL	0/1:12,17:29:99:489,0,310
chr2	111994565	rs7592909	A	C	85.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.45;ReadPosRankSum=-0.319;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7592909;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|9/18|c.1450+161A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2811;p3_1000G_AF=0.561302;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=19612;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112752142;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:23:114,0,23
chr2	111995303	rs6739294	G	A	686.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.607;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=0.416;SOR=0.553;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6739294;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|9/18|c.1450+899G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2810;p3_1000G_AF=0.561102;p3_1000G_AFR_AF=0.6649;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=21446;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112752880;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,22:39:99:715,0,524
chr2	111995520	rs6726639	A	C	1042.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=1.953;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-2.23;SOR=0.954;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6726639;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|9/18|c.1450+1116A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2811;p3_1000G_AF=0.561302;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=24864;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112753097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1071,0,798
chr2	111996204	rs34346510;rs397870972	TA	T	520.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.25;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.475;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34346510;dbSNPBuildID=137,138;ANN=T|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|9/18|c.1451-1116delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|AAA|AA|unsure;p3_1000G_AC=2809;p3_1000G_AF=0.560903;p3_1000G_AFR_AF=0.6641;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=20721;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112753781;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:21,19:40:99:558,0,625
chr2	111996306	rs10173553	C	T	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.989;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.7;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10173553;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|9/18|c.1451-1017C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2809;p3_1000G_AF=0.560903;p3_1000G_AFR_AF=0.6641;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=22147;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112753883;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:252,0,341
chr2	111996373	rs13003919	G	A	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.757;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.344;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13003919;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|9/18|c.1451-950G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=853;p3_1000G_AF=0.170327;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=21153;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112753950;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:202,0,247
chr2	111997303	rs3811633	G	A	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.376;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.485;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811633;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|9/18|c.1451-20G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=952;p3_1000G_AF=0.190096;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=17782;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.2873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112754880;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=656,3750;ESP6500_AA_AGE=280.8+/-275.6;ESP6500_AA_GTC=43,570,1590;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=182;ESP6500_EA_AC=2589,6011;ESP6500_EA_AGE=419.9+/-353.2;ESP6500_EA_GTC=389,1811,2100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006343.2:intron;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111997303;ESP6500_GTC=432,2381,3690;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.1451-20G>A;ESP6500_MAF=30.1047,14.8888,24.95;ESP6500_TAC=3245,9761	GT:AD:DP:GQ:PL	0/1:13,15:28:99:356,0,381
chr2	111997366	rs3811634;330758	C	T	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.308;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.481;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811634;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|MERTK|MERTK|transcript|NM_006343.2|protein_coding|10/19|c.1494C>T|p.Asn498Asn|1616/3626|1494/3000|498/999||;p3_1000G_AA=C|||;p3_1000G_AC=954;p3_1000G_AF=0.190495;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=17965;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.2873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112754943;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=656,3750;ESP6500_AA_AGE=275.7+/-272.7;ESP6500_AA_GTC=43,570,1590;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=190;ESP6500_EA_AC=2591,6009;ESP6500_EA_AGE=420.1+/-353.3;ESP6500_EA_GTC=389,1813,2098;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006343.2:coding-synonymous;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111997366;ESP6500_GTC=432,2383,3688;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.1494C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006343.2:p.(N498);ESP6500_MAF=30.1279,14.8888,24.9654;ESP6500_TAC=3247,9759;CLINVAR_AF_ESP=0.2497;CLINVAR_AF_EXAC=0.23852;CLINVAR_AF_TGP=0.1905;CLINVAR_ALLELEID=282251;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.111997366C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25676;CLINVAR_GENEINFO=MERTK:10461;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3811634	GT:AD:DP:GQ:PL	0/1:19,16:35:99:384,0,485
chr2	111997424	rs2230515;330759	A	G	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.688;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.537;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.111;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230515;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|MERTK|MERTK|transcript|NM_006343.2|protein_coding|10/19|c.1552A>G|p.Ile518Val|1674/3626|1552/3000|518/999||;p3_1000G_AA=G|||;p3_1000G_AC=2812;p3_1000G_AF=0.561502;p3_1000G_AFR_AF=0.6657;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=18954;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112755001;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2857,1549;ESP6500_AA_AGE=488.3+/-361.2;ESP6500_AA_GTC=928,1001,274;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=130;ESP6500_EA_AC=5388,3212;ESP6500_EA_AGE=484.9+/-371.5;ESP6500_EA_GTC=1704,1980,616;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006343.2:missense;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:111997424;ESP6500_GS=29;ESP6500_GTC=2632,2981,890;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.1552A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006343.2:p.(I518V);ESP6500_MAF=37.3488,35.1566,36.6062;ESP6500_PH=benign:0.001;ESP6500_TAC=8245,4761;CLINVAR_ALLELEID=282252;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.111997424A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25645|UniProtKB_(protein):Q12866#VAR_021045;CLINVAR_GENEINFO=MERTK:10461;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2230515	GT:AD:DP:GQ:PL	0/1:19,11:30:99:267,0,527
chr2	112004076	rs4848933	C	G	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.12;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4848933;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|13/18|c.1867+92C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2580;p3_1000G_AF=0.515176;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=21736;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112761653;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,14:28:99:480,0,405
chr2	112008396	rs1131244;330762	A	G	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.512;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.256;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1131244;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|MERTK|MERTK|transcript|NM_006343.2|protein_coding|14/19|c.1881A>G|p.Ser627Ser|2003/3626|1881/3000|627/999||;p3_1000G_AA=G|||;p3_1000G_AC=2580;p3_1000G_AF=0.515176;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=19421;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.6243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112765973;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2277,2129;ESP6500_AA_AGE=579.1+/-384.8;ESP6500_AA_GTC=581,1115,507;ESP6500_CDS_SIZES=NM_006343.2:3000;ESP6500_CG=-11.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=90;ESP6500_EA_AC=5368,3232;ESP6500_EA_AGE=486.5+/-371.9;ESP6500_EA_GTC=1694,1980,626;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006343.2:coding-synonymous;ESP6500_GL=MERTK;ESP6500_GRCh38_POSITION=2:112008396;ESP6500_GTC=2275,3095,1133;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006343.2:c.1881A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006343.2:p.(S627);ESP6500_MAF=37.5814,48.3205,41.2194;ESP6500_TAC=7645,5361;CLINVAR_ALLELEID=281586;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.112008396A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25653;CLINVAR_GENEINFO=MERTK:10461;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1131244	GT:AD:DP:GQ:PL	0/1:12,13:25:99:347,0,312
chr2	112008685	rs10210692	A	G	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.674;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10210692;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|14/18|c.1960+210A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2579;p3_1000G_AF=0.514976;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=18359;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112766262;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:113,0,128
chr2	112013193	rs4374383	A	G	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.102;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.236;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4374383;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|15/18|c.2079+3127A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2611;p3_1000G_AF=0.521366;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=17360;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112770770;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,14:32:99:353,0,396
chr2	112013221	rs4500955	T	C	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.344;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.012;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=1.43;SOR=1.006;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4500955;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|15/18|c.2079+3155T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2526;p3_1000G_AF=0.504393;p3_1000G_AFR_AF=0.4365;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=17652;p3_1000G_EAS_AF=0.2847;p3_1000G_EUR_AF=0.6272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112770798;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,15:35:99:312,0,437
chr2	112015789	rs6710591	A	G	221.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.385;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.17;ReadPosRankSum=0.674;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6710591;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|15/18|c.2080-3624A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2798;p3_1000G_AF=0.558706;p3_1000G_AFR_AF=0.6702;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=17641;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112773366;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,9:10:6:249,0,6
chr2	112015951	rs111619827;rs367674420	TCTTGTAC	T	226.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.2;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.44;ReadPosRankSum=1.95;SOR=0.892;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs111619827,rs367674420;dbSNPBuildID=132,138;ANN=T|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|15/18|c.2080-3458_2080-3452delGTACCTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2456;p3_1000G_AF=0.490415;p3_1000G_AFR_AF=0.4198;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=18834;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112773528;p3_1000G_GRCH37_REF=TCTTGTAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,7:13:99:264,0,524
chr2	112028198	rs4848958	T	C	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4848958;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|MERTK|MERTK|transcript|NM_006343.2|protein_coding|18/18|c.2487-153T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1040;p3_1000G_AF=0.207668;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=17630;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112785775;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:216,0,244
chr2	112055586	rs10176769	G	A	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10176769;dbSNPBuildID=119;ANN=A|5_prime_UTR_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_001329914.1|protein_coding|1/19|c.-6G>A|||||6|,A|5_prime_UTR_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_032824.2|protein_coding|1/19|c.-6G>A|||||6|;p3_1000G_AA=G|||;p3_1000G_AC=1204;p3_1000G_AF=0.240415;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=6976;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.3201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112813163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,151
chr2	112055814	rs9308665	C	G	863.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9308665;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_001329914.1|protein_coding|1/18|c.165+58C>G||||||,G|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_032824.2|protein_coding|1/18|c.165+58C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3744;p3_1000G_AF=0.747604;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=13488;p3_1000G_EAS_AF=0.9137;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112813391;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:84:1|1:112055814_C_G:892,84,0
chr2	112064303	rs60348850	A	G	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=0.442;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60348850;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_001329914.1|protein_coding|3/18|c.318+50A>G||||||,G|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_032824.2|protein_coding|3/18|c.318+50A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1535;p3_1000G_AF=0.30651;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=16851;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112821880;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=847,3559;ESP6500_AA_AGE=322.9+/-297.8;ESP6500_AA_GTC=81,685,1437;ESP6500_CDS_SIZES=NM_032824.2:1668;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=58;ESP6500_EA_AC=1705,6893;ESP6500_EA_AGE=307.6+/-308.5;ESP6500_EA_GTC=171,1363,2765;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032824.2:intron;ESP6500_GL=TMEM87B;ESP6500_GRCh38_POSITION=2:112064303;ESP6500_GTC=252,2048,4202;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032824.2:c.318+50A>G;ESP6500_MAF=19.8302,19.2238,19.6247;ESP6500_TAC=2552,10452	GT:AD:DP:GQ:PL	0/1:16,5:21:99:99,0,409
chr2	112074958	rs71385858	CAAT	C	313.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.811;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.259;SOR=0.385;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71385858;dbSNPBuildID=130;ANN=C|disruptive_inframe_deletion&splice_region_variant|MODERATE|TMEM87B|TMEM87B|transcript|NM_001329914.1|protein_coding|5/19|c.498_500delAAT|p.Met167del|867/5212|498/1668|166/555||,C|disruptive_inframe_deletion&splice_region_variant|MODERATE|TMEM87B|TMEM87B|transcript|NM_032824.2|protein_coding|5/19|c.498_500delAAT|p.Met167del|867/5212|498/1668|166/555||;p3_1000G_AC=1297;p3_1000G_AF=0.258986;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=17959;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.3976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112832535;p3_1000G_GRCH37_REF=CAAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=INDEL;ESP6500_AA_AC=915,3343;ESP6500_AA_GTC=103,709,1317;ESP6500_CDS_SIZES=NM_032824.2:1668;ESP6500_CG=3.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=41;ESP6500_EA_AC=3245,4989;ESP6500_EA_GTC=636,1973,1508;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032824.2:coding;ESP6500_GL=TMEM87B;ESP6500_GRCh38_POSITION=2:112074958;ESP6500_GTC=739,2682,2825;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_032824.2:c.498_500del3;ESP6500_HGVS_PROTEIN_VAR=NM_032824.2:p.(S166_M167delinsS);ESP6500_MAF=39.4098,21.489,33.3013;ESP6500_TAC=4160,8332	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,9:18:99:0|1:112074950_G_T:351,0,488
chr2	112089587	rs11123128	C	T	280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.769;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-2.003;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11123128;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_001329914.1|protein_coding|9/18|c.939-38C>T||||||,T|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_032824.2|protein_coding|9/18|c.939-38C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1311;p3_1000G_AF=0.261781;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=18681;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112847164;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=981,3425;ESP6500_AA_AGE=359.4+/-314.8;ESP6500_AA_GTC=111,759,1333;ESP6500_CDS_SIZES=NM_032824.2:1668;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=65;ESP6500_EA_AC=3473,5127;ESP6500_EA_AGE=503.0+/-375.8;ESP6500_EA_GTC=705,2063,1532;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032824.2:intron;ESP6500_GL=TMEM87B;ESP6500_GRCh38_POSITION=2:112089587;ESP6500_GTC=816,2822,2865;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032824.2:c.939-38C>T;ESP6500_MAF=40.3837,22.2651,34.2457;ESP6500_TAC=4454,8552	GT:AD:DP:GQ:PL	0/1:11,12:23:99:309,0,293
chr2	112097007	rs4849005	A	G	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.53;ReadPosRankSum=-0.812;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4849005;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_001329914.1|protein_coding|11/18|c.1105-37A>G||||||,G|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_032824.2|protein_coding|11/18|c.1105-37A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1381;p3_1000G_AF=0.275759;p3_1000G_AFR_AF=0.2526;p3_1000G_AMR_AF=0.1686;p3_1000G_AN=5008;p3_1000G_DP=16116;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.0726;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112854584;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=987,3353;ESP6500_AA_GTC=117,753,1300;ESP6500_CDS_SIZES=NM_032824.2:1668;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=38;ESP6500_EA_AC=607,7935;ESP6500_EA_GTC=20,567,3684;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032824.2:intron;ESP6500_GL=TMEM87B;ESP6500_GRCh38_POSITION=2:112097007;ESP6500_GTC=137,1320,4984;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032824.2:c.1105-37A>G;ESP6500_MAF=7.1061,22.7419,12.3739;ESP6500_TAC=1594,11288	GT:AD:DP:GQ:PL	0/1:2,7:9:47:231,0,47
chr2	112098588	rs4849007	C	A	1491.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=1.345;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4849007;dbSNPBuildID=111;ANN=A|splice_region_variant&intron_variant|LOW|TMEM87B|TMEM87B|transcript|NM_001329914.1|protein_coding|13/18|c.1273-7C>A||||||,A|splice_region_variant&intron_variant|LOW|TMEM87B|TMEM87B|transcript|NM_032824.2|protein_coding|13/18|c.1273-7C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3086;p3_1000G_AF=0.616214;p3_1000G_AFR_AF=0.7239;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=20130;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112856165;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3007,1399;ESP6500_AA_AGE=459.6+/-352.3;ESP6500_AA_GTC=1022,963,218;ESP6500_CDS_SIZES=NM_032824.2:1668;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=220;ESP6500_EA_AC=4387,4213;ESP6500_EA_AGE=570.8+/-389.4;ESP6500_EA_GTC=1126,2135,1039;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032824.2:intron;ESP6500_GL=TMEM87B;ESP6500_GRCh38_POSITION=2:112098588;ESP6500_GTC=2148,3098,1257;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_032824.2:c.1273-7C>A;ESP6500_MAF=48.9884,31.7522,43.1493;ESP6500_TAC=7394,5612	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1520,147,0
chr2	112107940	rs7562848	G	C	394.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7562848;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_001329914.1|protein_coding|17/18|c.1577+100G>C||||||,C|intron_variant|MODIFIER|TMEM87B|TMEM87B|transcript|NM_032824.2|protein_coding|17/18|c.1577+100G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17119;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112865517;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:423,33,0
chr2	112138817	rs11273609;rs1339455436	CGTCCCTCCCGCCTCTCTCCCCT	C	103.06	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs72097386,rs11273609;dbSNPBuildID=151,131;ANN=C|intron_variant|MODIFIER|FBLN7|FBLN7|transcript|NM_153214.2|protein_coding|1/7|c.75+129_75+150delCCTGTCCCTCCCGCCTCTCTCC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|FBLN7|FBLN7|transcript|NM_001128165.1|protein_coding|1/6|c.75+129_75+150delCCTGTCCCTCCCGCCTCTCTCC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:11:140,11,0
chr2	112159525	rs1320360	G	C	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.224;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-0.271;SOR=0.559;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1320360;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|FBLN7|FBLN7|transcript|NM_153214.2|protein_coding|1/7|c.76-151G>C||||||,C|intron_variant|MODIFIER|FBLN7|FBLN7|transcript|NM_001128165.1|protein_coding|1/6|c.76-151G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2083;p3_1000G_AF=0.415935;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=18057;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.492;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112917102;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,17:31:99:543,0,421
chr2	112187611	rs4848281	T	A	1298.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=3.312;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4848281;dbSNPBuildID=111;ANN=A|3_prime_UTR_variant|MODIFIER|FBLN7|FBLN7|transcript|NM_153214.2|protein_coding|8/8|c.*105T>A|||||105|,A|3_prime_UTR_variant|MODIFIER|FBLN7|FBLN7|transcript|NM_001128165.1|protein_coding|7/7|c.*105T>A|||||105|;p3_1000G_AA=T|||;p3_1000G_AC=3874;p3_1000G_AF=0.773562;p3_1000G_AFR_AF=0.6104;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=15984;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.7485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=112945188;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1327,123,0
chr2	112317198	rs564035069	C	CT	92.14	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.566;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5833444;dbSNPBuildID=142;ANN=CT|splice_region_variant&intron_variant|LOW|ZC3H6|ZC3H6|transcript|NM_198581.2|protein_coding|6/11|c.865-9dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=17127;p3_1000G_EAS_AF=0.6548;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113074775;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,6:7:10:129,10,0
chr2	112324673	rs398042581;rs59100751	CT	C	757.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=2.215;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs59100751;dbSNPBuildID=137,138;ANN=C|intron_variant|MODIFIER|ZC3H6|ZC3H6|transcript|NM_198581.2|protein_coding|10/11|c.1852+16delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTT|TTTTTT|TTTTT|insertion;p3_1000G_AC=3084;p3_1000G_AF=0.615815;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=17516;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.3897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113082250;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=INDEL;ESP6500_AA_AC=2563,895;ESP6500_AA_GTC=970,623,136;ESP6500_CDS_SIZES=NM_198581.2:3570;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=15;ESP6500_EA_AC=2809,4965;ESP6500_EA_GTC=530,1749,1608;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198581.2:intron;ESP6500_GL=ZC3H6;ESP6500_GRCh38_POSITION=2:112324673;ESP6500_GTC=1500,2372,1744;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_198581.2:c.1852+11del1;ESP6500_MAF=36.1333,25.882,47.8276;ESP6500_TAC=5372,5860	GT:AD:DP:GQ:PL	1/1:0,25:25:75:795,75,0
chr2	112331690	rs7601200	T	C	2188.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.69;SOR=1.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7601200;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|ZC3H6|ZC3H6|transcript|NM_198581.2|protein_coding|12/12|c.2772T>C|p.Asn924Asn|3166/11539|2772/3570|924/1189||;p3_1000G_AA=C|||;p3_1000G_AC=3634;p3_1000G_AF=0.725639;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=20981;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.5477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113089267;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3350,364;ESP6500_AA_GTC=1515,320,22;ESP6500_CDS_SIZES=NM_198581.2:3570;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=67;ESP6500_EA_AC=4229,3971;ESP6500_EA_GTC=1073,2083,944;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198581.2:coding-synonymous;ESP6500_GL=ZC3H6;ESP6500_GRCh38_POSITION=2:112331690;ESP6500_GTC=2588,2403,966;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198581.2:c.2772T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198581.2:p.(N924);ESP6500_MAF=48.4268,9.8008,36.3858;ESP6500_TAC=7579,4335	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2217,171,0
chr2	112332470	rs4578863	T	C	917.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.61;SOR=1.839;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4578863;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|ZC3H6|ZC3H6|transcript|NM_198581.2|protein_coding|12/12|c.3552T>C|p.Thr1184Thr|3946/11539|3552/3570|1184/1189||;p3_1000G_AA=C|||;p3_1000G_AC=3626;p3_1000G_AF=0.724042;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=15966;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.5477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113090047;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2893,339;ESP6500_AA_GTC=1310,273,33;ESP6500_CDS_SIZES=NM_198581.2:3570;ESP6500_CG=-9.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=100;ESP6500_EA_AC=4000,3356;ESP6500_EA_GTC=1138,1724,816;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198581.2:coding-synonymous;ESP6500_GL=ZC3H6;ESP6500_GRCh38_POSITION=2:112332470;ESP6500_GTC=2448,1997,849;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198581.2:c.3552T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198581.2:p.(T1184);ESP6500_MAF=45.6226,10.4889,34.898;ESP6500_TAC=6893,3695	GT:AD:DP:GQ:PL	1/1:0,31:31:93:946,93,0
chr2	112382477	rs3870234	G	A	52.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=22;QD=17.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201433337;dbSNPBuildID=113;ANN=A|intron_variant|MODIFIER|RGPD8|RGPD8.3|transcript|NM_001164463.1.3|protein_coding|20/22|c.4922-1514C>T||||||,A|intron_variant|MODIFIER|RGPD5|RGPD5.3|transcript|NM_005054.2.3|protein_coding|20/22|c.4922-1514C>T||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:9:80,9,0
chr2	112388237	rs1061266	C	T	549.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.499;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=31.92;MQRankSum=-0.366;QD=17.73;ReadPosRankSum=-0.677;SOR=0.638;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200737546;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|RGPD8|RGPD8.3|transcript|NM_001164463.1.3|protein_coding|20/23|c.4708G>A|p.Gly1570Arg|4900/7299|4708/5298|1570/1765||,T|missense_variant|MODERATE|RGPD5|RGPD5.3|transcript|NM_005054.2.3|protein_coding|20/23|c.4708G>A|p.Gly1570Arg|4785/7165|4708/5298|1570/1765||	GT:AD:DP:GQ:PL	0/1:7,24:31:99:578,0,137
chr2	112433316	rs796373709	GGGCCGGGTCGAGGCCGCCGCCGCCC	G	1048.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=5.514;MLEAC=1;MLEAF=0.5;MQ=59.07;MQRankSum=-0.68;QD=16.39;ReadPosRankSum=-0.305;SOR=1.536;DEL;HET;VARTYPE=DEL;dbSNPBuildID=146;ANN=G|intron_variant|MODIFIER|RGPD8|RGPD8.3|transcript|NM_001164463.1.3|protein_coding|1/22|c.72+41_72+65delGGGCGGCGGCGGCCTCGACCCGGCC||||||,G|intron_variant|MODIFIER|RGPD5|RGPD5.3|transcript|NM_005054.2.3|protein_coding|1/22|c.72+41_72+65delGGGCGGCGGCGGCCTCGACCCGGCC||||||	GT:AD:DP:GQ:PL	0/1:34,30:64:99:1086,0,6714
chr2	112501339	rs2918763	C	T	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.477;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.97;MQRankSum=-2.51;QD=7.34;ReadPosRankSum=0.286;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17846193;dbSNPBuildID=101;ANN=T|splice_region_variant&synonymous_variant|LOW|TTL|TTL|transcript|NM_153712.4|protein_coding|4/7|c.603C>T|p.Ile201Ile|782/5163|603/1134|201/377||;p3_1000G_AA=T|||;p3_1000G_AC=2260;p3_1000G_AF=0.451278;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs17846193;p3_1000G_DP=13294;p3_1000G_EAS_AF=0.5486;p3_1000G_EUR_AF=0.3867;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113258916;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:153,0,323
chr2	112503284	rs13024583	T	G	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.489;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13024583;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|TTL|TTL|transcript|NM_153712.4|protein_coding|5/6|c.875+103T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1357;p3_1000G_AF=0.270966;p3_1000G_AFR_AF=0.3389;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=11214;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113260861;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:104,0,145
chr2	112542424	rs138896228	TTCCGGCGTGTACCGAGAGACTGGCG	T	668.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=1.075;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-1.068;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs138896228;dbSNPBuildID=134;ANN=T|frameshift_variant|HIGH|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|2/16|c.75_99delCGTGTACCGAGAGACTGGCGTCCGG|p.Tyr27fs|191/5061|75/3522|25/1173||INFO_REALIGN_3_PRIME,T|5_prime_UTR_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|1/14|c.-40_-16delCGTGTACCGAGAGACTGGCGTCCGG|||||16|INFO_REALIGN_3_PRIME,T|5_prime_UTR_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|1/13|c.-40_-16delCGTGTACCGAGAGACTGGCGTCCGG|||||16|INFO_REALIGN_3_PRIME,T|5_prime_UTR_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|1/12|c.-225_-201delCGTGTACCGAGAGACTGGCGTCCGG|||||8395|INFO_REALIGN_3_PRIME,T|5_prime_UTR_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|1/16|c.-549_-525delCGTGTACCGAGAGACTGGCGTCCGG|||||5014|INFO_REALIGN_3_PRIME,T|5_prime_UTR_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|1/15|c.-386_-362delCGTGTACCGAGAGACTGGCGTCCGG|||||5014|INFO_REALIGN_3_PRIME,T|5_prime_UTR_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|1/15|c.-40_-16delCGTGTACCGAGAGACTGGCGTCCGG|||||16|INFO_REALIGN_3_PRIME,T|upstream_gene_variant|MODIFIER|LOC105373562|LOC105373562|transcript|NR_136321.1|pseudogene||n.-237_-213delCGCCAGTCTCTCGGTACACGCCGGA|||||213|;p3_1000G_AC=691;p3_1000G_AF=0.137979;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=20705;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.0706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113300001;p3_1000G_GRCH37_REF=TTCCGGCGTGTACCGAGAGACTGGCG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:44,25:69:99:706,0,8787
chr2	112542706	rs2241804	C	G	710.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=4.17;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=1.24;SOR=0.161;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241804;dbSNPBuildID=98;ANN=G|upstream_gene_variant|MODIFIER|LOC105373562|LOC105373562|transcript|NR_136321.1|pseudogene||n.-494G>C|||||494|,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|2/15|c.291+35C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|1/13|c.177+35C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|1/12|c.177+35C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|1/11|c.-9+35C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|1/15|c.-333+35C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|1/14|c.-170+35C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|1/14|c.177+35C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1024;p3_1000G_AF=0.204473;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=16271;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.0755;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113300283;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=923,3441;ESP6500_AA_GTC=98,727,1357;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=10;ESP6500_EA_AC=624,7854;ESP6500_EA_GTC=36,552,3651;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:intron,NM_001137604.1:intron;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112542706;ESP6500_GTC=134,1279,5008;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.177+35C>G,NM_001137604.1:c.177+35C>G;ESP6500_MAF=7.3602,21.1503,12.0464;ESP6500_TAC=1547,11295	GT:AD:DP:GQ:PL	0/1:13,24:37:99:739,0,364
chr2	112542753	rs4849071	G	A	922.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4849071;dbSNPBuildID=111;ANN=A|upstream_gene_variant|MODIFIER|LOC105373562|LOC105373562|transcript|NR_136321.1|pseudogene||n.-541C>T|||||541|,A|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|2/15|c.291+82G>A||||||,A|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|1/13|c.177+82G>A||||||,A|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|1/12|c.177+82G>A||||||,A|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|1/11|c.-9+82G>A||||||,A|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|1/15|c.-333+82G>A||||||,A|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|1/14|c.-170+82G>A||||||,A|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|1/14|c.177+82G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3511;p3_1000G_AF=0.701078;p3_1000G_AFR_AF=0.7564;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=18797;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113300330;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:951,84,0
chr2	112545886	rs62158584	T	C	41.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.842;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62158584;dbSNPBuildID=129;ANN=C|5_prime_UTR_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|2/16|c.-277T>C|||||1607|,C|upstream_gene_variant|MODIFIER|LOC105373562|LOC105373562|transcript|NR_136321.1|pseudogene||n.-3674A>G|||||3674|,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|2/15|c.292-1126T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|1/13|c.178-1535T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|1/12|c.178-1126T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|1/11|c.-9+3215T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|1/14|c.-169-1197T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|1/14|c.178-1126T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=788;p3_1000G_AF=0.157348;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=15652;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.0835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113303463;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:70:70,0,104
chr2	112547573	rs11123139	G	C	532.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=1.16;SOR=0.706;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11123139;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|4/15|c.606+6G>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|2/13|c.324+6G>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|3/12|c.492+6G>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|4/15|c.75+6G>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|3/14|c.75+6G>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|3/14|c.492+6G>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|1/11|c.-8-3293G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2471;p3_1000G_AF=0.493411;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=18162;p3_1000G_EAS_AF=0.4018;p3_1000G_EUR_AF=0.5785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113305150;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2334,2072;ESP6500_AA_AGE=572.1+/-383.2;ESP6500_AA_GTC=637,1060,506;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=79;ESP6500_EA_AC=5191,3409;ESP6500_EA_AGE=503.0+/-375.8;ESP6500_EA_GTC=1580,2031,689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:intron,NM_001137604.1:intron;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112547573;ESP6500_GTC=2217,3091,1195;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.492+6G>C,NM_001137604.1:c.324+6G>C;ESP6500_MAF=39.6395,47.0268,42.1421;ESP6500_TAC=7525,5481	GT:AD:DP:GQ:PL	0/1:15,18:33:99:561,0,378
chr2	112549250	rs62158585	A	G	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.03;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-1.162;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62158585;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|4/15|c.607-17A>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|2/13|c.325-17A>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|3/12|c.493-17A>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|1/11|c.-8-1616A>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|4/15|c.76-17A>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|3/14|c.76-17A>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|3/14|c.493-17A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1052;p3_1000G_AF=0.210064;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=17836;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.0865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113306827;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1051,3355;ESP6500_AA_AGE=374.4+/-321.2;ESP6500_AA_GTC=129,793,1281;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=96;ESP6500_EA_AC=721,7879;ESP6500_EA_AGE=174.8+/-225.0;ESP6500_EA_GTC=33,655,3612;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:intron,NM_001137604.1:intron;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112549250;ESP6500_GTC=162,1448,4893;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.493-17A>G,NM_001137604.1:c.325-17A>G;ESP6500_MAF=8.3837,23.8538,13.6245;ESP6500_TAC=1772,11234	GT:AD:DP:GQ:PL	0/1:8,11:19:99:338,0,171
chr2	112550939	rs2304555	T	A	1235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.137;SOR=0.745;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304555;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|6/16|c.813T>A|p.Thr271Thr|929/5061|813/3522|271/1173||,A|synonymous_variant|LOW|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|4/14|c.531T>A|p.Thr177Thr|1111/5243|531/3240|177/1079||,A|synonymous_variant|LOW|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|5/13|c.699T>A|p.Thr233Thr|1279/4862|699/2859|233/952||,A|synonymous_variant|LOW|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|2/12|c.66T>A|p.Thr22Thr|831/4963|66/2775|22/924||,A|synonymous_variant|LOW|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|6/16|c.282T>A|p.Thr94Thr|1371/5503|282/2991|94/996||,A|synonymous_variant|LOW|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|5/15|c.282T>A|p.Thr94Thr|1208/5340|282/2991|94/996||,A|synonymous_variant|LOW|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|5/15|c.699T>A|p.Thr233Thr|1279/5411|699/3408|233/1135||;p3_1000G_AA=T|||;p3_1000G_AC=2775;p3_1000G_AF=0.554113;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=21138;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.6938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113308516;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2453,1953;ESP6500_AA_AGE=620.2+/-393.5;ESP6500_AA_GTC=701,1051,451;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=-10.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=219;ESP6500_EA_AC=6370,2230;ESP6500_EA_AGE=709.9+/-405.7;ESP6500_EA_GTC=2353,1664,283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:coding-synonymous,NM_001137604.1:coding-synonymous;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112550939;ESP6500_GTC=3054,2715,734;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.699T>A,NM_001137604.1:c.531T>A;ESP6500_HGVS_PROTEIN_VAR=NM_019014.4:p.(T233),NM_001137604.1:p.(T177);ESP6500_MAF=25.9302,44.3259,32.1621;ESP6500_TAC=8823,4183	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1264,0,1563
chr2	112551045	rs3816140	C	T	861.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.093;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=2.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.77;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816140;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|6/15|c.876+43C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|4/13|c.594+43C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|5/12|c.762+43C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|2/11|c.129+43C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|6/15|c.345+43C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|5/14|c.345+43C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|5/14|c.762+43C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2770;p3_1000G_AF=0.553115;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=21067;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.6938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113308622;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2451,1955;ESP6500_AA_AGE=554.2+/-379.0;ESP6500_AA_GTC=700,1051,452;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=108;ESP6500_EA_AC=6364,2236;ESP6500_EA_AGE=378.2+/-338.8;ESP6500_EA_GTC=2351,1662,287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:intron,NM_001137604.1:intron;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112551045;ESP6500_GTC=3051,2713,739;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.762+43C>T,NM_001137604.1:c.594+43C>T;ESP6500_MAF=26.0,44.3713,32.2236;ESP6500_TAC=8815,4191	GT:AD:DP:GQ:PL	0/1:32,29:61:99:890,0,914
chr2	112551896	rs1545133	C	T	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.683;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.172;SOR=0.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1545133;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|7/16|c.998C>T|p.Ser333Leu|1114/5061|998/3522|333/1173||,T|missense_variant|MODERATE|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|5/14|c.716C>T|p.Ser239Leu|1296/5243|716/3240|239/1079||,T|missense_variant|MODERATE|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|6/13|c.884C>T|p.Ser295Leu|1464/4862|884/2859|295/952||,T|missense_variant|MODERATE|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|3/12|c.251C>T|p.Ser84Leu|1016/4963|251/2775|84/924||,T|missense_variant|MODERATE|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|7/16|c.467C>T|p.Ser156Leu|1556/5503|467/2991|156/996||,T|missense_variant|MODERATE|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|6/15|c.467C>T|p.Ser156Leu|1393/5340|467/2991|156/996||,T|missense_variant|MODERATE|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|6/15|c.884C>T|p.Ser295Leu|1464/5411|884/3408|295/1135||;p3_1000G_AA=c|||;p3_1000G_AC=2245;p3_1000G_AF=0.448283;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=17373;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.5726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113309473;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1838,2568;ESP6500_AA_AGE=534.2+/-373.9;ESP6500_AA_GTC=399,1040,764;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=-2.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=137;ESP6500_EA_AC=5129,3471;ESP6500_EA_AGE=635.6+/-399.0;ESP6500_EA_GTC=1544,2041,715;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019014.4:missense,NM_001137604.1:missense;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112551896;ESP6500_GS=145,145;ESP6500_GTC=1943,3081,1479;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.884C>T,NM_001137604.1:c.716C>T;ESP6500_HGVS_PROTEIN_VAR=NM_019014.4:p.(S295L),NM_001137604.1:p.(S239L);ESP6500_MAF=40.3605,41.7158,46.4324;ESP6500_PH=benign:0.01,benign:0.01;ESP6500_TAC=6967,6039	GT:AD:DP:GQ:PL	0/1:9,11:20:99:245,0,228
chr2	112552620	rs11351307;rs397985486;rs536740541	CT	C	612.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.53;SOR=2.124;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11351307;dbSNPBuildID=137,142,138;ANN=C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|7/15|c.1101-13delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|5/13|c.819-13delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|6/12|c.987-13delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|3/11|c.354-13delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|7/15|c.570-13delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|6/14|c.570-13delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|6/14|c.987-13delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,24:24:72:650,72,0
chr2	112564323	rs41280572	T	C	544.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.642;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.535;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.509;SOR=0.407;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41280572;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|10/15|c.1727-43T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|8/13|c.1445-43T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|7/12|c.1159-43T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|6/11|c.980-43T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|10/15|c.1196-43T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|9/14|c.1196-43T>C||||||,C|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|9/14|c.1613-43T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1646;p3_1000G_AF=0.328674;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19924;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.4722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113321900;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=522,3884;ESP6500_AA_AGE=238.7+/-250.0;ESP6500_AA_GTC=37,448,1718;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=96;ESP6500_EA_AC=4226,4374;ESP6500_EA_AGE=572.3+/-389.7;ESP6500_EA_GTC=1041,2144,1115;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:intron,NM_001137604.1:intron;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112564323;ESP6500_GTC=1078,2592,2833;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.1613-43T>C,NM_001137604.1:c.1445-43T>C;ESP6500_MAF=49.1395,11.8475,36.5062;ESP6500_TAC=4748,8258	GT:AD:DP:GQ:PL	0/1:18,21:39:99:573,0,475
chr2	112568704	rs6746874	C	G	500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6746874;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|12/15|c.2032-42C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|10/13|c.1750-42C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|9/12|c.1369-42C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|8/11|c.1285-42C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|12/15|c.1501-42C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|11/14|c.1501-42C>G||||||,G|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|11/14|c.1918-42C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3861;p3_1000G_AF=0.770966;p3_1000G_AFR_AF=0.7791;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=22634;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.7783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113326281;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3568,838;ESP6500_AA_AGE=331.8+/-302.1;ESP6500_AA_GTC=1451,666,86;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=143;ESP6500_EA_AC=7138,1462;ESP6500_EA_AGE=279.8+/-294.2;ESP6500_EA_GTC=2966,1206,128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:intron,NM_001137604.1:intron;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112568704;ESP6500_GTC=4417,1872,214;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.1918-42C>G,NM_001137604.1:c.1750-42C>G;ESP6500_MAF=17.0,19.0195,17.6841;ESP6500_TAC=10706,2300	GT:AD:DP:GQ:PL	1/1:0,13:13:39:529,39,0
chr2	112568925	rs13010814	C	T	1983.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13010814;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|13/15|c.2188+23C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|11/13|c.1906+23C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|10/12|c.1525+23C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|9/11|c.1441+23C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|13/15|c.1657+23C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|12/14|c.1657+23C>T||||||,T|intron_variant|MODIFIER|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|12/14|c.2074+23C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3860;p3_1000G_AF=0.770767;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=23262;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.7783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113326502;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3565,841;ESP6500_AA_AGE=332.3+/-302.4;ESP6500_AA_GTC=1449,667,87;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=75;ESP6500_EA_AC=7137,1463;ESP6500_EA_AGE=278.6+/-293.5;ESP6500_EA_GTC=2964,1209,127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:intron,NM_001137604.1:intron;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112568925;ESP6500_GTC=4413,1876,214;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.2074+23C>T,NM_001137604.1:c.1906+23C>T;ESP6500_MAF=17.0116,19.0876,17.7149;ESP6500_TAC=10702,2304	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2012,192,0
chr2	112574844	rs10169344	T	C	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.33;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.406;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=-0.389;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10169344;dbSNPBuildID=119;ANN=C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282772.1|protein_coding|15/15|c.2640-3T>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001137604.2|protein_coding|13/13|c.2358-3T>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282774.1|protein_coding|12/12|c.1977-3T>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282776.1|protein_coding|11/11|c.1893-3T>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282777.1|protein_coding|15/15|c.2109-3T>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_001282779.1|protein_coding|14/14|c.2109-3T>C||||||,C|splice_region_variant&intron_variant|LOW|POLR1B|POLR1B|transcript|NM_019014.5|protein_coding|14/14|c.2526-3T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1033;p3_1000G_AF=0.20627;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=19938;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113332421;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1082,3324;ESP6500_AA_AGE=365.1+/-317.3;ESP6500_AA_GTC=145,792,1266;ESP6500_CDS_SIZES=NM_019014.4:3408,NM_001137604.1:3240;ESP6500_CG=0.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=70;ESP6500_EA_AC=668,7932;ESP6500_EA_AGE=163.8+/-216.2;ESP6500_EA_GTC=29,610,3661;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019014.4:intron,NM_001137604.1:intron;ESP6500_GL=POLR1B;ESP6500_GRCh38_POSITION=2:112574844;ESP6500_GTC=174,1402,4927;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_019014.4:c.2526-3T>C,NM_001137604.1:c.2358-3T>C;ESP6500_MAF=7.7674,24.5574,13.4553;ESP6500_TAC=1750,11256	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,15:43:99:0|1:112574844_T_C:361,0,789
chr2	112586470	rs752992	T	C	2400.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=1.032;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs752992;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_032309.3|protein_coding|3/3|c.309+105T>C||||||,C|intron_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_001304353.1|protein_coding|3/3|c.195+105T>C||||||,C|intron_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_001304354.1|protein_coding|3/3|c.195+105T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3850;p3_1000G_AF=0.76877;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=18971;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.7753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113344047;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2429,219,0
chr2	112588836	rs3748024	C	G	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.997;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=1.54;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748024;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_032309.3|protein_coding|3/3|c.310-30C>G||||||,G|intron_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_001304353.1|protein_coding|3/3|c.196-30C>G||||||,G|intron_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_001304354.1|protein_coding|3/3|c.196-30C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1412;p3_1000G_AF=0.281949;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=17224;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113346413;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=568,3838;ESP6500_AA_AGE=252.4+/-258.8;ESP6500_AA_GTC=43,482,1678;ESP6500_CDS_SIZES=NM_032309.2:333;ESP6500_CG=1.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=83;ESP6500_EA_AC=4165,4435;ESP6500_EA_AGE=564.3+/-388.3;ESP6500_EA_GTC=1010,2145,1145;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032309.2:intron;ESP6500_GL=CHCHD5;ESP6500_GRCh38_POSITION=2:112588836;ESP6500_GTC=1053,2627,2823;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_032309.2:c.310-30C>G;ESP6500_MAF=48.4302,12.8915,36.3909;ESP6500_TAC=4733,8273	GT:AD:DP:GQ:PL	0/1:8,7:15:99:250,0,224
chr2	112588935	rs1047652	A	C	262.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.85;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1047652;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_032309.3|protein_coding|4/4|c.*46A>C|||||46|,C|3_prime_UTR_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_001304353.1|protein_coding|4/4|c.*46A>C|||||46|,C|3_prime_UTR_variant|MODIFIER|CHCHD5|CHCHD5|transcript|NM_001304354.1|protein_coding|4/4|c.*46A>C|||||46|;p3_1000G_AA=C|||;p3_1000G_AC=3803;p3_1000G_AF=0.759385;p3_1000G_AFR_AF=0.7791;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=14593;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113346512;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3413,993;ESP6500_AA_GTC=1450,513,240;ESP6500_CDS_SIZES=NM_032309.2:333;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=39;ESP6500_EA_AC=6926,1674;ESP6500_EA_GTC=2944,1038,318;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032309.2:utr-3;ESP6500_GL=CHCHD5;ESP6500_GRCh38_POSITION=2:112588935;ESP6500_GTC=4394,1551,558;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_032309.2:c.*46A>C;ESP6500_MAF=19.4651,22.5374,20.5059;ESP6500_TAC=10339,2667	GT:AD:DP:GQ:PL	1/1:0,8:8:24:291,24,0
chr2	112647131	rs4849091	G	A	504.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.989;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.964;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4849091;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|SLC20A1|SLC20A1|transcript|NM_005415.4|protein_coding|2/11|c.303G>A|p.Leu101Leu|842/3377|303/2040|101/679||,A|upstream_gene_variant|MODIFIER|FLJ42351|FLJ42351|transcript|NR_033871.1|pseudogene||n.-2951C>T|||||2951|;p3_1000G_AA=G|||;p3_1000G_AC=1806;p3_1000G_AF=0.360623;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=18952;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.5497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113404708;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=922,3484;ESP6500_AA_AGE=355.1+/-312.9;ESP6500_AA_GTC=104,714,1385;ESP6500_CDS_SIZES=NM_005415.4:2040;ESP6500_CG=5.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=152;ESP6500_EA_AC=4807,3793;ESP6500_EA_AGE=613.7+/-396.1;ESP6500_EA_GTC=1328,2151,821;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005415.4:coding-synonymous;ESP6500_GL=SLC20A1;ESP6500_GRCh38_POSITION=2:112647131;ESP6500_GTC=1432,2865,2206;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005415.4:c.303G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005415.4:p.(L101);ESP6500_MAF=44.1047,20.926,44.0489;ESP6500_TAC=5729,7277	GT:AD:DP:GQ:PL	0/1:31,23:54:99:533,0,1020
chr2	112722037	rs13386452	G	A	1216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.122;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0.98;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.348;SOR=0.563;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13386452;dbSNPBuildID=121;ANN=A|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112722037G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2058;p3_1000G_AF=0.410942;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=15503;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.5676;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113479614;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,47:68:99:1245,0,549
chr2	112722168	rs34781106;rs397985492;rs398080509	AC	A	1040.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.244;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34781106;dbSNPBuildID=126,138,138;ANN=A|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112722169delC||||||;p3_1000G_AA=CCCCC|CCCCCC|CCCCC|insertion;p3_1000G_AC=4607;p3_1000G_AF=0.919928;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=13742;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113479745;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9509;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1078,102,0
chr2	112722979	rs34912983;rs796916596	GC	G	425.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.209;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.542;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.65;ReadPosRankSum=-0.359;SOR=2.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34912983;dbSNPBuildID=126,146;ANN=G|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112722980delC||||||;p3_1000G_AA=CCCC|CCCC|CCC|deletion;p3_1000G_AC=2089;p3_1000G_AF=0.417133;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=15872;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.4195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113480556;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,15:18:47:463,0,47
chr2	112723361	rs375796295	G	GCACACACACA	482.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.58;ReadPosRankSum=-0.66;SOR=1.402;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GCACACACACA|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112723361_112723362insCACACACACA||||||	GT:AD:DP:GQ:PL	1/0:2,5:7:99:520,214,226
chr2	112723361	rs375796295	G	GCACACACACACACACACA	482.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.58;ReadPosRankSum=-0.66;SOR=1.402;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=GCACACACACACACACACA|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112723361_112723362insCACACACACACACACACA||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:99:520,139,227
chr2	112723862	rs13384583	T	A	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.037;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13384583;dbSNPBuildID=121;ANN=A|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112723862T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2423;p3_1000G_AF=0.483826;p3_1000G_AFR_AF=0.7042;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=17535;p3_1000G_EAS_AF=0.1607;p3_1000G_EUR_AF=0.5706;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113481439;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:273,0,287
chr2	112723970	rs2063919	A	G	1272.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.74;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2063919;dbSNPBuildID=94;ANN=G|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112723970A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4515;p3_1000G_AF=0.901558;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=19599;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113481547;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9519;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1301,99,0
chr2	112725202	rs4849116	A	C	1383.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4849116;dbSNPBuildID=111;ANN=C|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112725202A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4324;p3_1000G_AF=0.863419;p3_1000G_AFR_AF=0.5038;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=18939;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113482779;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1412,126,0
chr2	112726742	rs2138604	G	A	1476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.14;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2138604;dbSNPBuildID=96;ANN=A|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112726742G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4921;p3_1000G_AF=0.982628;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=18833;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113484319;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1505,147,0
chr2	112726776	rs2138605	A	G	1130.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=2.517;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2138605;dbSNPBuildID=96;ANN=G|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112726776A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4900;p3_1000G_AF=0.978435;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=18410;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113484353;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1159,99,0
chr2	112726864	rs2138606	T	G	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.725;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=0.241;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2138606;dbSNPBuildID=96;ANN=G|intergenic_region|MODIFIER|SLC20A1-CKAP2L|SLC20A1-CKAP2L|intergenic_region|SLC20A1-CKAP2L|||n.112726864T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2117;p3_1000G_AF=0.422724;p3_1000G_AFR_AF=0.4735;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=19192;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.5109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113484441;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:174,0,130
chr2	112738770	.	TTCTTG	T	169.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.29;ReadPosRankSum=-0.674;SOR=2.303;DEL;HET;VARTYPE=DEL;ANN=T|3_prime_UTR_variant|MODIFIER|CKAP2L|CKAP2L|transcript|NM_152515.4|protein_coding|9/9|c.*48_*52delCAAGA|||||48|,T|3_prime_UTR_variant|MODIFIER|CKAP2L|CKAP2L|transcript|NM_001304361.1|protein_coding|9/9|c.*48_*52delCAAGA|||||48|,T|non_coding_transcript_exon_variant|MODIFIER|CKAP2L|CKAP2L|transcript|NR_130712.1|pseudogene|10/10|n.1607_1611delCAAGA||||||	GT:AD:DP:GQ:PL	0/1:1,5:6:55:207,0,55
chr2	112740989	rs3811040	A	G	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.23;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811040;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|CKAP2L|CKAP2L|transcript|NM_152515.4|protein_coding|8/9|c.1841T>C|p.Leu614Ser|1920/4789|1841/2238|614/745||,G|missense_variant|MODERATE|CKAP2L|CKAP2L|transcript|NM_001304361.1|protein_coding|8/9|c.1346T>C|p.Leu449Ser|1861/4730|1346/1743|449/580||,G|non_coding_transcript_exon_variant|MODIFIER|CKAP2L|CKAP2L|transcript|NR_130712.1|pseudogene|9/10|n.1162T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2116;p3_1000G_AF=0.422524;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=22421;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.508;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113498566;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=551,3855;ESP6500_AA_AGE=244.7+/-253.9;ESP6500_AA_GTC=35,481,1687;ESP6500_CDS_SIZES=XM_001716541.4:2157,NM_152515.3:2238;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=141;ESP6500_EA_AC=4338,4262;ESP6500_EA_AGE=579.4+/-390.9;ESP6500_EA_GTC=1127,2084,1089;ESP6500_EXOME_CHIP=yes;ESP6500_FG=XM_001716541.4:intron,NM_152515.3:missense;ESP6500_GL=CKAP2L,NT5DC4;ESP6500_GRCh38_POSITION=2:112740989;ESP6500_GS=.,145;ESP6500_GTC=1162,2565,2776;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=XM_001716541.4:c.2119-1423A>G,NM_152515.3:c.1841T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_152515.3:p.(L614S);ESP6500_MAF=49.5581,12.5057,37.5903;ESP6500_PH=.,benign:0.035;ESP6500_TAC=4889,8117	GT:AD:DP:GQ:PL	0/1:24,19:43:99:540,0,616
chr2	112755927	rs4848298	A	G	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.269;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=0.685;SOR=1.885;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4848298;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CKAP2L|CKAP2L|transcript|NM_152515.4|protein_coding|4/8|c.1394+50T>C||||||,G|intron_variant|MODIFIER|CKAP2L|CKAP2L|transcript|NM_001304361.1|protein_coding|4/8|c.899+50T>C||||||,G|intron_variant|MODIFIER|CKAP2L|CKAP2L|transcript|NR_130712.1|pseudogene|5/9|n.715+50T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2115;p3_1000G_AF=0.422324;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=19779;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113513504;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=554,3852;ESP6500_AA_AGE=242.8+/-252.7;ESP6500_AA_GTC=36,482,1685;ESP6500_CDS_SIZES=NM_152515.3:2238;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=97;ESP6500_EA_AC=4334,4266;ESP6500_EA_AGE=577.5+/-390.6;ESP6500_EA_GTC=1129,2076,1095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152515.3:intron;ESP6500_GL=CKAP2L;ESP6500_GRCh38_POSITION=2:112755927;ESP6500_GTC=1165,2558,2780;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152515.3:c.1394+50T>C;ESP6500_MAF=49.6047,12.5738,37.5827;ESP6500_TAC=4888,8118	GT:AD:DP:GQ:PL	0/1:13,13:26:99:474,0,360
chr2	112756248	rs6731822	T	C	2746.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=84;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.7;SOR=0.741;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6731822;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|CKAP2L|CKAP2L|transcript|NM_152515.4|protein_coding|4/9|c.1123A>G|p.Ile375Val|1202/4789|1123/2238|375/745||,C|missense_variant|MODERATE|CKAP2L|CKAP2L|transcript|NM_001304361.1|protein_coding|4/9|c.628A>G|p.Ile210Val|1143/4730|628/1743|210/580||,C|intron_variant|MODIFIER|CKAP2L|CKAP2L|transcript|NR_130712.1|pseudogene|4/9|n.558-114A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4827;p3_1000G_AF=0.963858;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=21525;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113513825;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4081,325;ESP6500_AA_AGE=173.4+/-203.2;ESP6500_AA_GTC=1893,295,15;ESP6500_CDS_SIZES=NM_152515.3:2238;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=145;ESP6500_EA_AC=8147,453;ESP6500_EA_AGE=135.7+/-192.9;ESP6500_EA_GTC=3862,423,15;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152515.3:missense;ESP6500_GL=CKAP2L;ESP6500_GRCh38_POSITION=2:112756248;ESP6500_GS=29;ESP6500_GTC=5755,718,30;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152515.3:c.1123A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152515.3:p.(I375V);ESP6500_MAF=5.2674,7.3763,5.9819;ESP6500_PH=benign:0.002;ESP6500_TAC=12228,778	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2775,252,0
chr2	112775308	rs3783550	G	T	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.833;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=0.531;SOR=0.045;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3783550;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|IL1A|IL1A|transcript|NM_000575.4|protein_coding|6/6|c.616-41C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3107;p3_1000G_AF=0.620407;p3_1000G_AFR_AF=0.8048;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=22486;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113532885;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3422,984;ESP6500_AA_AGE=363.4+/-316.5;ESP6500_AA_GTC=1337,748,118;ESP6500_CDS_SIZES=NM_000575.3:816;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=55;ESP6500_EA_AC=6019,2581;ESP6500_EA_AGE=416.7+/-352.2;ESP6500_EA_GTC=2144,1731,425;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000575.3:intron;ESP6500_GL=IL1A;ESP6500_GRCh38_POSITION=2:112775308;ESP6500_GTC=3481,2479,543;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000575.3:c.616-41C>A;ESP6500_MAF=30.0116,22.3332,27.4104;ESP6500_TAC=9441,3565	GT:AD:DP:GQ:PL	0/1:6,3:9:64:64,0,203
chr2	112782628	rs1609682	G	T	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.611;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.317;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=0.312;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1609682;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|IL1A|IL1A|transcript|NM_000575.4|protein_coding|3/6|c.96+88C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3107;p3_1000G_AF=0.620407;p3_1000G_AFR_AF=0.8048;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=21716;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113540205;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:175,0,311
chr2	112832890	rs1143633	C	T	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.806;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.262;SOR=0.671;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1143633;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|IL1B|IL1B|transcript|NM_000576.2|protein_coding|4/6|c.302-64G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1557;p3_1000G_AF=0.310903;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=21585;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113590467;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,12:29:99:337,0,522
chr2	112913726	rs3811045	T	C	1721.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811045;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|IL37|IL37|transcript|NM_173205.1|protein_coding||c.-1467T>C|||||1467|,C|intron_variant|MODIFIER|IL37|IL37|transcript|NM_014439.3|protein_coding|1/4|c.83-66T>C||||||,C|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173202.1|protein_coding|1/3|c.82+632T>C||||||,C|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173203.1|protein_coding|1/2|c.82+632T>C||||||,C|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173204.1|protein_coding|1/3|c.83-66T>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=3010;p3_1000G_AF=0.601038;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=19576;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113671303;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1750,159,0
chr2	112913801	rs3811046	G	T	2108.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=0.75;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811046;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|IL37|IL37|transcript|NM_014439.3|protein_coding|2/5|c.92G>T|p.Gly31Val|134/771|92/657|31/218||,T|missense_variant|MODERATE|IL37|IL37|transcript|NM_173204.1|protein_coding|2/4|c.92G>T|p.Gly31Val|134/651|92/537|31/178||,T|upstream_gene_variant|MODIFIER|IL37|IL37|transcript|NM_173205.1|protein_coding||c.-1392G>T|||||1392|,T|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173202.1|protein_coding|1/3|c.82+707G>T||||||,T|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173203.1|protein_coding|1/2|c.82+707G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3005;p3_1000G_AF=0.60004;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=13804;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.6998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113671378;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP;ESP6500_AA_AC=1234,3172;ESP6500_AA_AGE=424.2+/-340.4;ESP6500_AA_GTC=192,850,1161;ESP6500_CDS_SIZES=NM_173204.1:537,NM_173203.1:474,NM_173202.1:594,NM_014439.3:657;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=95;ESP6500_EA_AC=6080,2520;ESP6500_EA_AGE=692.4+/-404.6;ESP6500_EA_GTC=2154,1772,374;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173204.1:missense,NM_173203.1:intron,NM_173202.1:intron,NM_014439.3:missense;ESP6500_GL=IL37;ESP6500_GRCh38_POSITION=2:112913801;ESP6500_GS=109,.,.,109;ESP6500_GTC=2346,2622,1535;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_173204.1:c.92G>T,NM_173203.1:c.82+707G>T,NM_173202.1:c.82+707G>T,NM_014439.3:c.92G>T;ESP6500_HGVS_PROTEIN_VAR=NM_173204.1:p.(G31V),.,.,NM_014439.3:p.(G31V);ESP6500_MAF=29.3023,28.0073,43.7644;ESP6500_PH=possibly-damaging:0.92,.,.,possibly-damaging:0.92;ESP6500_TAC=7314,5692	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2137,210,0
chr2	112913833	rs3811047	A	G	1912.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=0.933;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811047;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|IL37|IL37|transcript|NM_014439.3|protein_coding|2/5|c.124A>G|p.Thr42Ala|166/771|124/657|42/218||,G|missense_variant|MODERATE|IL37|IL37|transcript|NM_173204.1|protein_coding|2/4|c.124A>G|p.Thr42Ala|166/651|124/537|42/178||,G|upstream_gene_variant|MODIFIER|IL37|IL37|transcript|NM_173205.1|protein_coding||c.-1360A>G|||||1360|,G|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173202.1|protein_coding|1/3|c.82+739A>G||||||,G|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173203.1|protein_coding|1/2|c.82+739A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3092;p3_1000G_AF=0.617412;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=14671;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.7008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113671410;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP;ESP6500_AA_AC=1415,2991;ESP6500_AA_AGE=445.1+/-347.6;ESP6500_AA_GTC=251,913,1039;ESP6500_CDS_SIZES=NM_173204.1:537,NM_173203.1:474,NM_173202.1:594,NM_014439.3:657;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=81;ESP6500_EA_AC=6032,2568;ESP6500_EA_AGE=670.0+/-402.7;ESP6500_EA_GTC=2158,1716,426;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173204.1:missense,NM_173203.1:intron,NM_173202.1:intron,NM_014439.3:missense;ESP6500_GL=IL37;ESP6500_GRCh38_POSITION=2:112913833;ESP6500_GS=58,.,.,58;ESP6500_GTC=2409,2629,1465;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173204.1:c.124A>G,NM_173203.1:c.82+739A>G,NM_173202.1:c.82+739A>G,NM_014439.3:c.124A>G;ESP6500_HGVS_PROTEIN_VAR=NM_173204.1:p.(T42A),.,.,NM_014439.3:p.(T42A);ESP6500_MAF=29.8605,32.1153,42.7418;ESP6500_PH=benign:0.0,.,.,benign:0.0;ESP6500_TAC=7447,5559	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1941,188,0
chr2	112913941	rs3811048	G	A	503.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.58;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811048;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|IL37|IL37|transcript|NM_173205.1|protein_coding||c.-1252G>A|||||1252|,A|intron_variant|MODIFIER|IL37|IL37|transcript|NM_014439.3|protein_coding|2/4|c.145+87G>A||||||,A|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173202.1|protein_coding|1/3|c.82+847G>A||||||,A|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173203.1|protein_coding|1/2|c.82+847G>A||||||,A|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173204.1|protein_coding|2/3|c.145+87G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2995;p3_1000G_AF=0.598043;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=16219;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.6948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113671518;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:532,45,0
chr2	112918382	rs2723191	G	T	497.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.18;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2723191;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|IL37|IL37|transcript|NM_014439.3|protein_coding|4/4|c.409-179G>T||||||,T|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173202.1|protein_coding|3/3|c.346-179G>T||||||,T|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173203.1|protein_coding|2/2|c.226-179G>T||||||,T|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173204.1|protein_coding|3/3|c.289-179G>T||||||,T|intron_variant|MODIFIER|IL37|IL37|transcript|NM_173205.1|protein_coding|3/3|c.331-179G>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=4293;p3_1000G_AF=0.857228;p3_1000G_AFR_AF=0.6452;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=17697;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113675959;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9059;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:526,45,0
chr2	113005886	rs2305152	A	C	3353.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=0.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305152;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|IL36A|IL36A|transcript|NM_014440.2|protein_coding|1/3|c.10+5A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1427;p3_1000G_AF=0.284944;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=20859;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113763463;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=243,3525;ESP6500_AA_GTC=7,229,1648;ESP6500_CDS_SIZES=NM_014440.1:477;ESP6500_CG=-0.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=110;ESP6500_EA_AC=2643,5591;ESP6500_EA_GTC=445,1753,1919;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014440.1:intron;ESP6500_GL=IL36A;ESP6500_GRCh38_POSITION=2:113005886;ESP6500_GTC=452,1982,3567;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_014440.1:c.10+5A>C;ESP6500_MAF=32.0986,6.449,24.046;ESP6500_TAC=2886,9116	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3382,321,0
chr2	113005998	rs895497	A	G	2571.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.55;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs895497;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|IL36A|IL36A|transcript|NM_014440.2|protein_coding|2/4|c.35A>G|p.Gln12Arg|446/888|35/477|12/158||;p3_1000G_AA=G|||;p3_1000G_AC=4210;p3_1000G_AF=0.840655;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=21196;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.7247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113763575;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2945,875;ESP6500_AA_GTC=1148,649,113;ESP6500_CDS_SIZES=NM_014440.1:477;ESP6500_CG=-7.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=105;ESP6500_EA_AC=5799,2441;ESP6500_EA_GTC=2040,1719,361;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014440.1:missense;ESP6500_GL=IL36A;ESP6500_GRCh38_POSITION=2:113005998;ESP6500_GS=43;ESP6500_GTC=3188,2368,474;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014440.1:c.35A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014440.1:p.(Q12R);ESP6500_MAF=29.6238,22.9058,27.4959;ESP6500_PH=benign:0.0;ESP6500_TAC=8744,3316	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2600,236,0
chr2	113026332	rs6744874	A	T	778.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.46;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6744874;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|IL36B|IL36B|transcript|NM_173178.2|protein_coding||c.*1571T>A|||||1101|,T|intron_variant|MODIFIER|IL36B|IL36B|transcript|NM_014438.4|protein_coding|4/5|c.262-100T>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=4242;p3_1000G_AF=0.847045;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=22851;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.7227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113783909;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:807,66,0
chr2	113028150	rs1562304	A	G	302.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.64;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1562304;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|IL36B|IL36B|transcript|NM_014438.4|protein_coding|4/5|c.261+789T>C||||||,G|intron_variant|MODIFIER|IL36B|IL36B|transcript|NM_173178.2|protein_coding|4/4|c.262-35T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=4930;p3_1000G_AF=0.984425;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=18111;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113785727;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP;ESP6500_AA_AC=4339,65;ESP6500_AA_GTC=2137,65,0;ESP6500_CDS_SIZES=NM_173178.1:474,NM_014438.3:495;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=35;ESP6500_EA_AC=7984,612;ESP6500_EA_GTC=3708,568,22;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173178.1:intron,NM_014438.3:intron;ESP6500_GL=IL36B;ESP6500_GRCh38_POSITION=2:113028150;ESP6500_GTC=5845,633,22;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173178.1:c.262-35T>C,NM_014438.3:c.261+789T>C;ESP6500_MAF=7.1196,1.4759,5.2077;ESP6500_TAC=12323,677	GT:AD:DP:GQ:PL	1/1:0,9:9:27:331,27,0
chr2	113031013	rs3752739	C	G	529.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.141;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.058;SOR=0.849;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752739;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|IL36B|IL36B|transcript|NM_014438.4|protein_coding|3/5|c.121+35G>C||||||,G|intron_variant|MODIFIER|IL36B|IL36B|transcript|NM_173178.2|protein_coding|3/4|c.121+35G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=715;p3_1000G_AF=0.142772;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=20032;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113788590;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP;ESP6500_AA_AC=198,4208;ESP6500_AA_AGE=122.9+/-160.3;ESP6500_AA_GTC=4,190,2009;ESP6500_CDS_SIZES=NM_173178.1:474,NM_014438.3:495;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=62;ESP6500_EA_AC=996,7604;ESP6500_EA_AGE=213.6+/-253.5;ESP6500_EA_GTC=60,876,3364;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173178.1:intron,NM_014438.3:intron;ESP6500_GL=IL36B;ESP6500_GRCh38_POSITION=2:113031013;ESP6500_GTC=64,1066,5373;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_173178.1:c.121+35G>C,NM_014438.3:c.121+35G>C;ESP6500_MAF=11.5814,4.4939,9.1804;ESP6500_TAC=1194,11812	GT:AD:DP:GQ:PL	0/1:29,22:51:99:558,0,752
chr2	113031592	rs2305149	C	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.224;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.65;ReadPosRankSum=-0.305;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305149;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IL36B|IL36B|transcript|NM_014438.4|protein_coding|2/5|c.13+105G>T||||||,A|intron_variant|MODIFIER|IL36B|IL36B|transcript|NM_173178.2|protein_coding|2/4|c.13+105G>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=909;p3_1000G_AF=0.18151;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=17281;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.1143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113789169;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:240,0,176
chr2	113031739	rs2305150	C	T	288.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.914;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.741;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305150;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|IL36B|IL36B|transcript|NM_014438.4|protein_coding|2/6|c.-30G>A|||||30|,T|5_prime_UTR_variant|MODIFIER|IL36B|IL36B|transcript|NM_173178.2|protein_coding|2/5|c.-30G>A|||||30|;p3_1000G_AA=c|||;p3_1000G_AC=3204;p3_1000G_AF=0.639776;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=18577;p3_1000G_EAS_AF=0.7242;p3_1000G_EUR_AF=0.5835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113789316;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP;ESP6500_AA_AC=2476,1930;ESP6500_AA_AGE=624.4+/-394.3;ESP6500_AA_GTC=680,1116,407;ESP6500_CDS_SIZES=NM_173178.1:474,NM_014438.3:495;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=131;ESP6500_EA_AC=4836,3764;ESP6500_EA_AGE=615.8+/-396.4;ESP6500_EA_GTC=1364,2108,828;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173178.1:utr-5,NM_014438.3:utr-5;ESP6500_GL=IL36B;ESP6500_GRCh38_POSITION=2:113031739;ESP6500_GTC=2044,3224,1235;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173178.1:c.-30G>A,NM_014438.3:c.-30G>A;ESP6500_MAF=43.7674,43.8039,43.7798;ESP6500_TAC=7312,5694	GT:AD:DP:GQ:PL	0/1:12,14:26:99:317,0,298
chr2	113059363	rs2278716	C	G	1659.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.144;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0.847;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=0.962;SOR=0.792;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278716;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_012275.2|protein_coding|1/4|c.-27-49C>G||||||,G|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_173170.1|protein_coding|1/4|c.-27-49C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1606;p3_1000G_AF=0.320687;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=17559;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.4145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113816940;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5706;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=5,1379;ESP6500_AA_GTC=2,1,689;ESP6500_CDS_SIZES=NM_173170.1:468,NM_012275.2:468;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=82,3100;ESP6500_EA_GTC=20,42,1529;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173170.1:intron,NM_012275.2:intron;ESP6500_GL=IL36RN;ESP6500_GRCh38_POSITION=2:113059363;ESP6500_GTC=22,43,2218;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_173170.1:c.-76C>G,NM_012275.2:c.-76C>G;ESP6500_MAF=2.577,0.3613,1.9054;ESP6500_TAC=87,4479	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,43:80:99:0|1:113059363_C_G:1688,0,1911
chr2	113059365	rs2278717	A	C	1659.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.894;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.24;ReadPosRankSum=1.21;SOR=0.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278717;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_012275.2|protein_coding|1/4|c.-27-47A>C||||||,C|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_173170.1|protein_coding|1/4|c.-27-47A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1625;p3_1000G_AF=0.324481;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=17697;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.4185;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113816942;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=11,1373;ESP6500_AA_GTC=2,7,683;ESP6500_CDS_SIZES=NM_173170.1:468,NM_012275.2:468;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=110,3072;ESP6500_EA_GTC=18,74,1499;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173170.1:intron,NM_012275.2:intron;ESP6500_GL=IL36RN;ESP6500_GRCh38_POSITION=2:113059365;ESP6500_GTC=20,81,2182;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_173170.1:c.-74A>C,NM_012275.2:c.-74A>C;ESP6500_MAF=3.4569,0.7948,2.65;ESP6500_TAC=121,4445	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,43:82:99:0|1:113059363_C_G:1688,0,1911
chr2	113059604	rs2515392	C	T	532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2515392;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_012275.2|protein_coding|2/4|c.29+137C>T||||||,T|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_173170.1|protein_coding|2/4|c.29+137C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4009;p3_1000G_AF=0.800519;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=18246;p3_1000G_EAS_AF=0.9435;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113817181;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:561,42,0
chr2	113061055	rs2251872	G	A	569.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2251872;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_012275.2|protein_coding|3/4|c.115+118G>A||||||,A|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_173170.1|protein_coding|3/4|c.115+118G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4009;p3_1000G_AF=0.800519;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=20565;p3_1000G_EAS_AF=0.9435;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113818632;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:598,51,0
chr2	113062037	rs2252007	T	C	616.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.35;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2252007;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_012275.2|protein_coding|3/4|c.116-87T>C||||||,C|intron_variant|MODIFIER|IL36RN|IL36RN|transcript|NM_173170.1|protein_coding|3/4|c.116-87T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4024;p3_1000G_AF=0.803514;p3_1000G_AFR_AF=0.8132;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=20931;p3_1000G_EAS_AF=0.9435;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113819614;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:645,48,0
chr2	113072573	rs3811049	G	T	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.259;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.958;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811049;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|IL1F10|IL1F10|transcript|NM_032556.5|protein_coding|1/4|c.-166G>T|||||166|,T|intron_variant|MODIFIER|IL1F10|IL1F10|transcript|NM_173161.2|protein_coding|1/4|c.-28-138G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=396;p3_1000G_AF=0.0790735;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=18386;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113830150;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:277,0,330
chr2	113072596	rs3811050	C	T	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.005;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.404;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811050;dbSNPBuildID=107;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|IL1F10|IL1F10|transcript|NM_032556.5|protein_coding|1/4|c.-143C>T||||||,T|5_prime_UTR_variant|MODIFIER|IL1F10|IL1F10|transcript|NM_032556.5|protein_coding|1/4|c.-143C>T|||||143|,T|intron_variant|MODIFIER|IL1F10|IL1F10|transcript|NM_173161.2|protein_coding|1/4|c.-28-115C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1155;p3_1000G_AF=0.230631;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=18134;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113830173;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:314,0,356
chr2	113072624	rs3811051	T	G	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.649;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=1.62;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811051;dbSNPBuildID=107;ANN=G|5_prime_UTR_variant|MODIFIER|IL1F10|IL1F10|transcript|NM_032556.5|protein_coding|1/4|c.-115T>G|||||115|,G|intron_variant|MODIFIER|IL1F10|IL1F10|transcript|NM_173161.2|protein_coding|1/4|c.-28-87T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3220;p3_1000G_AF=0.642971;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=18308;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113830201;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,12:24:99:373,0,405
chr2	113074368	rs3811058	T	C	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.662;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-0.249;SOR=0.794;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811058;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|IL1F10|IL1F10|transcript|NM_032556.5|protein_coding|2/4|c.72T>C|p.Asp24Asp|493/1366|72/459|24/152||,C|synonymous_variant|LOW|IL1F10|IL1F10|transcript|NM_173161.2|protein_coding|3/5|c.72T>C|p.Asp24Asp|147/1020|72/459|24/152||;p3_1000G_AA=T|||;p3_1000G_AC=885;p3_1000G_AF=0.176717;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=21509;p3_1000G_EAS_AF=0.5179;p3_1000G_EUR_AF=0.0795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113831945;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=248,4158;ESP6500_AA_AGE=145.0+/-179.8;ESP6500_AA_GTC=8,232,1963;ESP6500_CDS_SIZES=NM_173161.2:459,NM_032556.5:459;ESP6500_CG=-8.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=104;ESP6500_EA_AC=627,7973;ESP6500_EA_AGE=163.0+/-215.7;ESP6500_EA_GTC=21,585,3694;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173161.2:coding-synonymous,NM_032556.5:coding-synonymous;ESP6500_GL=IL1F10;ESP6500_GRCh38_POSITION=2:113074368;ESP6500_GTC=29,817,5657;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173161.2:c.72T>C,NM_032556.5:c.72T>C;ESP6500_HGVS_PROTEIN_VAR=NM_173161.2:p.(D24),NM_032556.5:p.(D24);ESP6500_MAF=7.2907,5.6287,6.7277;ESP6500_TAC=875,12131	GT:AD:DP:GQ:PL	0/1:23,11:34:99:239,0,576
chr2	113074756	rs6743376	C	A	701.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.294;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=2.127;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-2.039;SOR=1.005;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6743376;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|IL1F10|IL1F10|transcript|NM_032556.5|protein_coding|3/4|c.152C>A|p.Ala51Asp|573/1366|152/459|51/152||,A|missense_variant|MODERATE|IL1F10|IL1F10|transcript|NM_173161.2|protein_coding|4/5|c.152C>A|p.Ala51Asp|227/1020|152/459|51/152||;p3_1000G_AA=A|||;p3_1000G_AC=3633;p3_1000G_AF=0.725439;p3_1000G_AFR_AF=0.7322;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=19523;p3_1000G_EAS_AF=0.6825;p3_1000G_EUR_AF=0.6938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113832333;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8027;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3211,1195;ESP6500_AA_AGE=418.5+/-338.3;ESP6500_AA_GTC=1167,877,159;ESP6500_CDS_SIZES=NM_173161.2:459,NM_032556.5:459;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=95;ESP6500_EA_AC=5640,2960;ESP6500_EA_AGE=459.9+/-365.0;ESP6500_EA_GTC=1873,1894,533;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173161.2:missense,NM_032556.5:missense;ESP6500_GL=IL1F10;ESP6500_GRCh38_POSITION=2:113074756;ESP6500_GS=126,126;ESP6500_GTC=3040,2771,692;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_173161.2:c.152C>A,NM_032556.5:c.152C>A;ESP6500_HGVS_PROTEIN_VAR=NM_173161.2:p.(A51D),NM_032556.5:p.(A51D);ESP6500_MAF=34.4186,27.1221,31.9468;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8851,4155	GT:AD:DP:GQ:PL	0/1:32,30:62:99:730,0,856
chr2	113132727	rs315952;330827	T	C	1932.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=0.796;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs315952;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|IL1RN|IL1RN|transcript|NM_173841.2|protein_coding|6/6|c.399T>C|p.Ser133Ser|525/1814|399/543|133/180||,C|synonymous_variant|LOW|IL1RN|IL1RN|transcript|NM_000577.4|protein_coding|5/5|c.336T>C|p.Ser112Ser|462/1751|336/480|112/159||,C|synonymous_variant|LOW|IL1RN|IL1RN|transcript|NM_001318914.1|protein_coding|7/7|c.288T>C|p.Ser96Ser|696/1985|288/432|96/143||,C|synonymous_variant|LOW|IL1RN|IL1RN|transcript|NM_173843.2|protein_coding|6/6|c.288T>C|p.Ser96Ser|633/1922|288/432|96/143||,C|synonymous_variant|LOW|IL1RN|IL1RN|transcript|NM_173842.2|protein_coding|4/4|c.390T>C|p.Ser130Ser|454/1743|390/534|130/177||;p3_1000G_AA=C|||;p3_1000G_AC=1753;p3_1000G_AF=0.35004;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=18651;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.2803;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113890304;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1921,2485;ESP6500_AA_AGE=626.0+/-394.6;ESP6500_AA_GTC=423,1075,705;ESP6500_CDS_SIZES=NM_173843.2:432,NM_173842.2:534,NM_173841.2:543,NM_000577.4:480;ESP6500_CG=-10.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=94;ESP6500_EA_AC=2412,6188;ESP6500_EA_AGE=699.1+/-405.1;ESP6500_EA_GTC=342,1728,2230;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173843.2:coding-synonymous,NM_173842.2:coding-synonymous,NM_173841.2:coding-synonymous,NM_000577.4:coding-synonymous;ESP6500_GL=IL1RN;ESP6500_GRCh38_POSITION=2:113132727;ESP6500_GTC=765,2803,2935;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173843.2:c.288T>C,NM_173842.2:c.390T>C,NM_173841.2:c.399T>C,NM_000577.4:c.336T>C;ESP6500_HGVS_PROTEIN_VAR=NM_173843.2:p.(S96),NM_173842.2:p.(S130),NM_173841.2:p.(S133),NM_000577.4:p.(S112);ESP6500_MAF=28.0465,43.5996,33.3154;ESP6500_TAC=4333,8673;CLINVAR_AF_ESP=0.3332;CLINVAR_AF_EXAC=0.30816;CLINVAR_AF_TGP=0.3500;CLINVAR_ALLELEID=283875;CLINVAR_CLNDISDB=MedGen:C2748507,OMIM:612852,Orphanet:ORPHA210115|MedGen:CN169374;CLINVAR_CLNDN=Osteomyelitis,_sterile_multifocal,_with_periostitis_and_pustulosis|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.113132727T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25689;CLINVAR_GENEINFO=IL1RN:3557;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=315952	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1961,177,0
chr2	113183104	rs3748914	T	C	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.02;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=4.846;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.591;SOR=1.256;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748914;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|PSD4|PSD4|transcript|NM_012455.2|protein_coding|2/17|c.648T>C|p.Ser216Ser|831/5039|648/3171|216/1056||;p3_1000G_AA=C|||;p3_1000G_AC=2881;p3_1000G_AF=0.57528;p3_1000G_AFR_AF=0.7375;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=17550;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.4423;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113940681;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3023,1383;ESP6500_AA_AGE=456.3+/-351.3;ESP6500_AA_GTC=1046,931,226;ESP6500_CDS_SIZES=NM_012455.2:3171;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=63;ESP6500_EA_AC=3513,5087;ESP6500_EA_AGE=632.4+/-398.6;ESP6500_EA_GTC=732,2049,1519;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012455.2:coding-synonymous;ESP6500_GL=PSD4;ESP6500_GRCh38_POSITION=2:113183104;ESP6500_GTC=1778,2980,1745;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012455.2:c.648T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012455.2:p.(S216);ESP6500_MAF=40.8488,31.389,49.7463;ESP6500_TAC=6536,6470	GT:AD:DP:GQ:PL	0/1:24,14:38:99:369,0,620
chr2	113183262	rs4849167	G	C	661.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.344;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.122;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.847;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4849167;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|PSD4|PSD4|transcript|NM_012455.2|protein_coding|2/17|c.806G>C|p.Gly269Ala|989/5039|806/3171|269/1056||;p3_1000G_AA=G|||;p3_1000G_AC=2589;p3_1000G_AF=0.516973;p3_1000G_AFR_AF=0.5272;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=18291;p3_1000G_EAS_AF=0.6012;p3_1000G_EUR_AF=0.4423;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113940839;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2223,2183;ESP6500_AA_AGE=591.5+/-387.6;ESP6500_AA_GTC=561,1101,541;ESP6500_CDS_SIZES=NM_012455.2:3171;ESP6500_CG=0.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=73;ESP6500_EA_AC=3507,5093;ESP6500_EA_AGE=512.2+/-377.9;ESP6500_EA_GTC=730,2047,1523;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012455.2:missense;ESP6500_GL=PSD4;ESP6500_GRCh38_POSITION=2:113183262;ESP6500_GS=60;ESP6500_GTC=1291,3148,2064;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_012455.2:c.806G>C;ESP6500_HGVS_PROTEIN_VAR=NM_012455.2:p.(G269A);ESP6500_MAF=40.7791,49.5461,44.0566;ESP6500_PH=possibly-damaging:0.753;ESP6500_TAC=5730,7276	GT:AD:DP:GQ:PL	0/1:27,24:51:99:690,0,839
chr2	113185326	rs1975535	A	C	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=3.687;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.175;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1975535;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|PSD4|PSD4|transcript|NM_012455.2|protein_coding|3/16|c.1174-39A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2874;p3_1000G_AF=0.573882;p3_1000G_AFR_AF=0.7383;p3_1000G_AMR_AF=0.5159;p3_1000G_AN=5008;p3_1000G_DP=19069;p3_1000G_EAS_AF=0.5972;p3_1000G_EUR_AF=0.4423;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113942903;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3031,1375;ESP6500_AA_AGE=449.4+/-349.0;ESP6500_AA_GTC=1051,929,223;ESP6500_CDS_SIZES=NM_012455.2:3171;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=74;ESP6500_EA_AC=3514,5086;ESP6500_EA_AGE=631.3+/-398.5;ESP6500_EA_GTC=733,2048,1519;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012455.2:intron;ESP6500_GL=PSD4;ESP6500_GRCh38_POSITION=2:113185326;ESP6500_GTC=1784,2977,1742;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_012455.2:c.1174-39A>C;ESP6500_MAF=40.8605,31.2074,49.6771;ESP6500_TAC=6545,6461	GT:AD:DP:GQ:PL	0/1:11,15:26:99:418,0,258
chr2	113185893	rs2241976	A	G	388.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.706;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.598;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241976;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|PSD4|PSD4|transcript|NM_012455.2|protein_coding|5/17|c.1266A>G|p.Gly422Gly|1449/5039|1266/3171|422/1056||;p3_1000G_AA=G|||;p3_1000G_AC=2892;p3_1000G_AF=0.577476;p3_1000G_AFR_AF=0.7352;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=17134;p3_1000G_EAS_AF=0.6012;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113943470;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3040,1366;ESP6500_AA_GTC=1062,916,225;ESP6500_CDS_SIZES=NM_012455.2:3171;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=26;ESP6500_EA_AC=3595,5005;ESP6500_EA_GTC=763,2069,1468;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012455.2:coding-synonymous;ESP6500_GL=PSD4;ESP6500_GRCh38_POSITION=2:113185893;ESP6500_GTC=1825,2985,1693;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012455.2:c.1266A>G;ESP6500_HGVS_PROTEIN_VAR=NM_012455.2:p.(G422);ESP6500_MAF=41.8023,31.0032,48.9851;ESP6500_TAC=6635,6371	GT:AD:DP:GQ:PL	0/1:24,17:41:99:417,0,627
chr2	113186186	rs199962391	G	A	516.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.822;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.66;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199962391;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|PSD4|PSD4|transcript|NM_012455.2|protein_coding|5/17|c.1559G>A|p.Ser520Asn|1742/5039|1559/3171|520/1056||;p3_1000G_AA=G|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18141;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113943763;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,23:44:99:545,0,576
chr2	113195824	rs923693	A	G	885.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.61;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs923693;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PSD4|PSD4|transcript|NM_012455.2|protein_coding|11/16|c.2225+54A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4993;p3_1000G_AF=0.997005;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17654;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113953401;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1368,16;ESP6500_AA_GTC=676,16,0;ESP6500_CDS_SIZES=NM_012455.2:3171;ESP6500_CG=-0.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=108;ESP6500_EA_AC=3182,0;ESP6500_EA_GTC=1591,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012455.2:intron;ESP6500_GL=PSD4;ESP6500_GRCh38_POSITION=2:113195824;ESP6500_GTC=2267,16,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012455.2:c.2225+54A>G;ESP6500_MAF=0.0,1.1561,0.3504;ESP6500_TAC=4550,16	GT:AD:DP:GQ:PL	1/1:0,25:25:75:914,75,0
chr2	113220285	rs4849175	T	G	580.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.41;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4849175;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|10/11|c.1190-107A>C||||||,G|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|10/11|c.1111-107A>C||||||,G|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|8/9|c.880-107A>C||||||,G|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|7/8|c.778-107A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4963;p3_1000G_AF=0.991014;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18628;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113977862;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:609,48,0
chr2	113235223	rs35724515;rs397778746	TCC	T	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35724515;dbSNPBuildID=126,138;ANN=T|upstream_gene_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene||n.-1045_-1044delCC|||||1045|,T|upstream_gene_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_047570.1|pseudogene||n.-303_-302delCC|||||303|,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|9/11|c.1087+169_1087+170delGG||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|9/11|c.1008+169_1008+170delGG||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|7/9|c.777+6326_777+6327delGG||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|7/8|c.777+6326_777+6327delGG||||||;p3_1000G_AC=1788;p3_1000G_AF=0.357029;p3_1000G_AFR_AF=0.264;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=15501;p3_1000G_EAS_AF=0.3323;p3_1000G_EUR_AF=0.3926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113992800;p3_1000G_GRCH37_REF=TCC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0
chr2	113236502	rs77270532	C	T	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.75;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.969;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.409;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77270532;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|8/11|c.898+99G>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|8/11|c.898+99G>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|7/9|c.777+5049G>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|7/8|c.777+5049G>A||||||,T|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_047570.1|pseudogene|1/2|n.44+932C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene|1/6|n.234C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1114;p3_1000G_AF=0.222444;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=11457;p3_1000G_EAS_AF=0.255;p3_1000G_EUR_AF=0.16;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113994079;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:208,0,418
chr2	113236840	rs1110839	G	T	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.061;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-0.379;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1110839;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|7/11|c.778-119C>A||||||,T|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene|1/5|n.354+218G>T||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|7/11|c.778-119C>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|7/9|c.777+4711C>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|7/8|c.777+4711C>A||||||,T|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_047570.1|pseudogene|1/2|n.45-1250G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2387;p3_1000G_AF=0.476637;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=19548;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113994417;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,13:24:99:411,0,287
chr2	113241446	rs4322837	T	C	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.32;ReadPosRankSum=0.184;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4322837;dbSNPBuildID=111;ANN=C|downstream_gene_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_047570.1|pseudogene||n.*604T>C|||||604|,C|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|7/11|c.777+105A>G||||||,C|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene|1/5|n.354+4824T>C||||||,C|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|7/11|c.777+105A>G||||||,C|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|7/9|c.777+105A>G||||||,C|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|7/8|c.777+105A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=463;p3_1000G_AF=0.0924521;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=21767;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113999023;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,9:34:99:243,0,704
chr2	113242198	rs116441771	G	A	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.828;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=9.249;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.417;SOR=2.812;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116441771;dbSNPBuildID=132;ANN=A|downstream_gene_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_047570.1|pseudogene||n.*1356G>A|||||1356|,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|5/11|c.479-68C>T||||||,A|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene|1/5|n.354+5576G>A||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|5/11|c.479-68C>T||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|5/9|c.479-68C>T||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|5/8|c.479-68C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=410;p3_1000G_AF=0.081869;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=15803;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=113999775;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:242,0,195
chr2	113242555	rs115905562	C	T	483.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.978;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-0.322;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115905562;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_047570.1|pseudogene||n.*1713C>T|||||1713|,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|5/11|c.478+135G>A||||||,T|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene|1/5|n.354+5933C>T||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|5/11|c.478+135G>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|5/9|c.478+135G>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|5/8|c.478+135G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=410;p3_1000G_AF=0.081869;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=21311;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114000132;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,17:30:99:512,0,384
chr2	113242881	rs902691	C	A	267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.78;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs902691;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_047570.1|pseudogene||n.*2039C>A|||||2039|,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|4/11|c.390-103G>T||||||,A|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene|1/5|n.354+6259C>A||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|4/11|c.390-103G>T||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|4/9|c.390-103G>T||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|4/8|c.390-103G>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19829;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114000458;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:296,30,0
chr2	113244326	rs74370449	C	T	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.292;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.921;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74370449;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_047570.1|pseudogene||n.*3484C>T|||||3484|,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|4/11|c.389+101G>A||||||,T|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene|1/5|n.355-6441C>T||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|4/11|c.389+101G>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|4/9|c.389+101G>A||||||,T|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|4/8|c.389+101G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=361;p3_1000G_AF=0.0720847;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=17553;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114001903;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:94:144,0,94
chr2	113246660	rs11678394	G	A	443.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11678394;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_003466.3|protein_coding|3/11|c.191+94C>T||||||,A|intron_variant|MODIFIER|PAX8-AS1|PAX8-AS1|transcript|NR_015377.2|pseudogene|1/5|n.355-4107G>A||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013952.3|protein_coding|3/11|c.191+94C>T||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013953.3|protein_coding|3/9|c.191+94C>T||||||,A|intron_variant|MODIFIER|PAX8|PAX8|transcript|NM_013992.3|protein_coding|3/8|c.191+94C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4993;p3_1000G_AF=0.997005;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18603;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114004237;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:472,45,0
chr2	113563106	rs1242012295	ATT	A	64.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.608;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=49.1;MQRankSum=-2.823;QD=9.26;ReadPosRankSum=1.69;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intergenic_region|MODIFIER|PGM5P4-AS1-FAM138B|PGM5P4-AS1-FAM138B|intergenic_region|PGM5P4-AS1-FAM138B|||n.113563107_113563108delTT||||||	GT:AD:DP:GQ:PL	0/1:4,3:7:99:102,0,346
chr2	113563126	rs879958785	G	C	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.294;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.98;MQRankSum=-1.86;QD=8.67;ReadPosRankSum=0.901;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNPBuildID=149;ANN=C|intergenic_region|MODIFIER|PGM5P4-AS1-FAM138B|PGM5P4-AS1-FAM138B|intergenic_region|PGM5P4-AS1-FAM138B|||n.113563126G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,4:13:99:0|1:113563126_G_C:141,0,454
chr2	113563127	rs2983078	A	G	112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.933;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.98;MQRankSum=-1.86;QD=8.67;ReadPosRankSum=0.974;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNPBuildID=101;ANN=G|intergenic_region|MODIFIER|PGM5P4-AS1-FAM138B|PGM5P4-AS1-FAM138B|intergenic_region|PGM5P4-AS1-FAM138B|||n.113563127A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,4:13:99:0|1:113563126_G_C:141,0,454
chr2	113563174	rs2144271	G	A	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.076;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=47.06;MQRankSum=-1.735;QD=3.56;ReadPosRankSum=-0.651;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201638540;dbSNPBuildID=96;ANN=A|intergenic_region|MODIFIER|PGM5P4-AS1-FAM138B|PGM5P4-AS1-FAM138B|intergenic_region|PGM5P4-AS1-FAM138B|||n.113563174G>A||||||	GT:AD:DP:GQ:PL	0/1:8,4:12:71:71,0,189
chr2	113583829	rs2418694	A	G	22.79	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.231;MLEAC=1;MLEAF=0.5;MQ=48.02;MQRankSum=-0.225;QD=0.88;ReadPosRankSum=0.183;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2418694;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|MIR1302-3|MIR1302-3|transcript|NR_031632.1|pseudogene||n.-733T>C|||||733|,G|downstream_gene_variant|MODIFIER|FAM138B|FAM138B|transcript|NR_026821.1|pseudogene||n.*4977A>G|||||4977|,G|non_coding_transcript_exon_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|1/11|n.177A>G||||||	GT:AD:DP:GQ:PL	0/1:22,4:26:51:51,0,543
chr2	113583874	rs8179853	A	G	20.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.048;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.17;MQRankSum=0.327;QD=0.63;ReadPosRankSum=-0.095;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8179853;dbSNPBuildID=117;ANN=G|upstream_gene_variant|MODIFIER|MIR1302-3|MIR1302-3|transcript|NR_031632.1|pseudogene||n.-778T>C|||||778|,G|non_coding_transcript_exon_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|1/11|n.222A>G||||||	GT:AD:DP:GQ:PL	0/1:27,6:33:49:49,0,724
chr2	113595173	rs2592633	G	C	54.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.696;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=1.913;MLEAC=1;MLEAF=0.5;MQ=31.27;MQRankSum=-3.365;QD=3.22;ReadPosRankSum=1.17;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*3855C>G|||||3855|,C|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*3855C>G|||||3855|,C|intron_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|3/10|n.529+12G>C||||||	GT:AD:DP:GQ:PL	0/1:11,6:17:83:83,0,250
chr2	113595229	rs2974807	T	C	21.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.718;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.6;MQRankSum=-3.087;QD=1.82;ReadPosRankSum=0.425;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2974807;dbSNPBuildID=101;ANN=C|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*3799A>G|||||3799|,C|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*3799A>G|||||3799|,C|intron_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|3/10|n.529+68T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2172;p3_1000G_AF=0.433706;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=33264;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114352806;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:50:50,0,237
chr2	113595260	rs4499434	C	T	15.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.744;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=41.76;MQRankSum=-2.744;QD=1.44;ReadPosRankSum=0.253;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4499434;dbSNPBuildID=111;ANN=T|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*3768G>A|||||3768|,T|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*3768G>A|||||3768|,T|intron_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|3/10|n.529+99C>T||||||	GT:AD:DP:GQ:PL	0/1:8,3:11:44:44,0,262
chr2	113595431	rs708636	G	C	43.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=33.11;MQRankSum=-1.834;QD=7.29;ReadPosRankSum=-0.967;SOR=2.225;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs708636;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*3597C>G|||||3597|,C|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*3597C>G|||||3597|,C|non_coding_transcript_exon_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|4/11|n.592G>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:72:0|1:113595431_G_C:72,0,286
chr2	113595432	rs879896837	G	A	43.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=33.11;MQRankSum=-1.834;QD=7.29;ReadPosRankSum=-0.967;SOR=2.225;SNP;HET;VARTYPE=SNP;dbSNPBuildID=149;ANN=A|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*3596C>T|||||3596|,A|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*3596C>T|||||3596|,A|non_coding_transcript_exon_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|4/11|n.593G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:72:0|1:113595431_G_C:72,0,286
chr2	113595822	rs17857359	T	G	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.53;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=19.737;MLEAC=1;MLEAF=0.5;MQ=49.28;MQRankSum=-4.725;QD=3.46;ReadPosRankSum=0.745;SOR=4.614;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62160634;dbSNPBuildID=123;ANN=G|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*3206A>C|||||3206|,G|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*3206A>C|||||3206|,G|non_coding_transcript_exon_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|5/11|n.806T>G||||||	GT:AD:DP:GQ:PL	0/1:21,9:30:99:132,0,519
chr2	113597419	rs878985289	G	A	20.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.17;MQRankSum=-0.842;QD=3.47;ReadPosRankSum=-0.842;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNPBuildID=147;ANN=A|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*1609C>T|||||1609|,A|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*1609C>T|||||1609|,A|intron_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|8/10|n.1307-67G>A||||||	GT:AD:DP:GQ:PL	0/1:4,2:6:49:49,0,123
chr2	113597590	rs3953918	A	G	66.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.244;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=37.31;MQRankSum=-0.884;QD=3.03;ReadPosRankSum=-0.985;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNPBuildID=113;ANN=G|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*1438T>C|||||1438|,G|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*1438T>C|||||1438|,G|non_coding_transcript_exon_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|9/11|n.1411A>G||||||	GT:AD:DP:GQ:PL	0/1:17,5:22:95:95,0,446
chr2	113597660	rs3953917	C	T	24.78	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.79;MQRankSum=-2.525;QD=1.65;ReadPosRankSum=-0.072;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNPBuildID=113;ANN=T|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*1368G>A|||||1368|,T|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*1368G>A|||||1368|,T|intron_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|9/10|n.1459+22C>T||||||	GT:AD:DP:GQ:PL	0/1:12,3:15:53:53,0,312
chr2	113597730	rs3962410	A	C	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.84;MQRankSum=-2.362;QD=1.1;ReadPosRankSum=-1.602;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=C|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*1298T>G|||||1298|,C|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*1298T>G|||||1298|,C|intron_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|9/10|n.1459+92A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,2:11:40:0|1:113597730_A_C:40,0,372
chr2	113598489	rs3874680	G	A	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=14.299;MLEAC=1;MLEAF=0.5;MQ=44.52;MQRankSum=-3.935;QD=5.1;ReadPosRankSum=-0.645;SOR=4.003;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374832940;dbSNPBuildID=108;ANN=A|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene||n.*539C>T|||||539|,A|downstream_gene_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene||n.*539C>T|||||539|,A|intron_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene|10/10|n.1528+23G>A||||||	GT:AD:DP:GQ:PL	0/1:28,10:38:99:222,0,716
chr2	113599911	rs528508661	G	A	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.255;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=4.769;MLEAC=1;MLEAF=0.5;MQ=50.1;MQRankSum=-0.708;QD=7.8;ReadPosRankSum=0.251;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|downstream_gene_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene||n.*875G>A|||||875|,A|non_coding_transcript_exon_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene|3/3|n.1275C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene|3/3|n.778C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=31218;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114357488;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,16:41:99:348,0,608
chr2	113600631	rs1627580	C	T	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.366;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1627580;dbSNPBuildID=89;ANN=T|downstream_gene_variant|MODIFIER|WASH2P|WASH2P|transcript|NR_024077.2|pseudogene||n.*1595C>T|||||1595|,T|intron_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024005.2|pseudogene|2/2|n.474+87G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|DDX11L2|DDX11L2|transcript|NR_024004.1|pseudogene|3/3|n.555G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1164;p3_1000G_AF=0.232428;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=16904;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.0378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114358208;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:101,0,105
chr2	113628595	rs1665303	A	G	254.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.195;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=13.132;MLEAC=1;MLEAF=0.5;MQ=36.55;MQRankSum=-1.627;QD=10.19;ReadPosRankSum=-0.104;SOR=0.982;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368603894;dbSNPBuildID=89;ANN=G|5_prime_UTR_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306160.1|protein_coding|1/8|c.-12A>G|||||12|,G|5_prime_UTR_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306158.1|protein_coding|2/9|c.-12A>G|||||12|,G|5_prime_UTR_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306159.1|protein_coding|2/10|c.-12A>G|||||12|,G|5_prime_UTR_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306161.1|protein_coding|2/7|c.-12A>G|||||12|,G|5_prime_UTR_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_007082.4|protein_coding|2/10|c.-12A>G|||||12|,G|5_prime_UTR_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_013412.3|protein_coding|2/9|c.-12A>G|||||12|,G|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024528.1|pseudogene||n.-1457T>C|||||1457|,G|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_000029.3|pseudogene||n.-1457T>C|||||1457|,G|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024529.1|pseudogene||n.-1457T>C|||||1457|,G|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024530.1|pseudogene||n.-1457T>C|||||1457|,G|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024531.1|pseudogene||n.-1457T>C|||||1457|	GT:AD:DP:GQ:PL	0/1:14,11:25:99:283,0,417
chr2	113630330	rs1964835	C	T	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.977;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=59.27;MQRankSum=-1.716;QD=15.29;ReadPosRankSum=-0.286;SOR=0.184;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1964835;dbSNPBuildID=92;ANN=T|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024528.1|pseudogene||n.-3192G>A|||||3192|,T|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_000029.3|pseudogene||n.-3192G>A|||||3192|,T|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024529.1|pseudogene||n.-3192G>A|||||3192|,T|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024530.1|pseudogene||n.-3192G>A|||||3192|,T|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024531.1|pseudogene||n.-3192G>A|||||3192|,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306160.1|protein_coding|1/7|c.107+1617C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306158.1|protein_coding|2/8|c.107+1617C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306159.1|protein_coding|2/9|c.107+1617C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306161.1|protein_coding|2/6|c.107+1617C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_007082.4|protein_coding|2/9|c.107+1617C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_013412.3|protein_coding|2/8|c.107+1617C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2043;p3_1000G_AF=0.407947;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=20026;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.2525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114387907;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:334,0,241
chr2	113630373	rs1040646	G	A	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.025;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=58.83;MQRankSum=-0.524;QD=11.88;ReadPosRankSum=1.54;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1040646;dbSNPBuildID=89;ANN=A|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024528.1|pseudogene||n.-3235C>T|||||3235|,A|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_000029.3|pseudogene||n.-3235C>T|||||3235|,A|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024529.1|pseudogene||n.-3235C>T|||||3235|,A|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024530.1|pseudogene||n.-3235C>T|||||3235|,A|upstream_gene_variant|MODIFIER|RPL23AP7|RPL23AP7|transcript|NR_024531.1|pseudogene||n.-3235C>T|||||3235|,A|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306160.1|protein_coding|1/7|c.107+1660G>A||||||,A|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306158.1|protein_coding|2/8|c.107+1660G>A||||||,A|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306159.1|protein_coding|2/9|c.107+1660G>A||||||,A|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306161.1|protein_coding|2/6|c.107+1660G>A||||||,A|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_007082.4|protein_coding|2/9|c.107+1660G>A||||||,A|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_013412.3|protein_coding|2/8|c.107+1660G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2038;p3_1000G_AF=0.406949;p3_1000G_AFR_AF=0.6044;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=19856;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114387950;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:147,0,129
chr2	113634144	rs793079	T	C	517.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.87;MQRankSum=0.506;QD=16.18;ReadPosRankSum=-1.977;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs793079;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306160.1|protein_coding|2/7|c.138-9T>C||||||,C|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306158.1|protein_coding|3/8|c.138-9T>C||||||,C|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306159.1|protein_coding|3/9|c.138-9T>C||||||,C|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306161.1|protein_coding|3/6|c.138-9T>C||||||,C|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_007082.4|protein_coding|3/9|c.138-9T>C||||||,C|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_013412.3|protein_coding|3/8|c.138-9T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1654;p3_1000G_AF=0.330272;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=20313;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.1362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114391721;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1995,2411;ESP6500_AA_AGE=529.8+/-372.8;ESP6500_AA_GTC=465,1065,673;ESP6500_CDS_SIZES=NM_013412.2:687,NM_007082.3:687;ESP6500_CG=0.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=41;ESP6500_EA_AC=1080,7508;ESP6500_EA_AGE=209.6+/-250.7;ESP6500_EA_GTC=63,954,3277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013412.2:intron,NM_007082.3:intron;ESP6500_GL=RABL2A;ESP6500_GRCh38_POSITION=2:113634144;ESP6500_GTC=528,2019,3950;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_013412.2:c.138-9T>C,NM_007082.3:c.138-9T>C;ESP6500_MAF=12.5757,45.2792,23.6648;ESP6500_TAC=3075,9919	GT:AD:DP:GQ:PL	0/1:15,17:32:99:546,0,463
chr2	113635139	rs793078;rs146907164	C	T	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.64;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=48.24;MQRankSum=-2.099;QD=10.62;ReadPosRankSum=1.75;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146907164;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306160.1|protein_coding|4/7|c.297+9C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306158.1|protein_coding|5/8|c.297+9C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306159.1|protein_coding|5/9|c.297+9C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_001306161.1|protein_coding|4/6|c.217+907C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_007082.4|protein_coding|5/9|c.297+9C>T||||||,T|intron_variant|MODIFIER|RABL2A|RABL2A|transcript|NM_013412.3|protein_coding|5/8|c.297+9C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2009;p3_1000G_AF=0.401158;p3_1000G_AFR_AF=0.5817;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs146907164;p3_1000G_DP=20884;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114392716;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2291,2111;ESP6500_AA_AGE=600.2+/-389.4;ESP6500_AA_GTC=604,1083,514;ESP6500_CDS_SIZES=NM_013412.2:687,NM_007082.3:687;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=100;ESP6500_EA_AC=2169,6429;ESP6500_EA_AGE=370.8+/-336.0;ESP6500_EA_GTC=252,1665,2382;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013412.2:intron,NM_007082.3:intron;ESP6500_GL=RABL2A;ESP6500_GRCh38_POSITION=2:113635139;ESP6500_GTC=856,2748,2896;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_013412.2:c.297+9C>T,NM_007082.3:c.297+9C>T;ESP6500_MAF=25.2268,47.9555,34.3077;ESP6500_TAC=4460,8540	GT:AD:DP:GQ:PL	0/1:31,27:58:99:644,0,754
chr2	113668538	rs2285396	T	C	1147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=11.275;MLEAC=1;MLEAF=0.5;MQ=55.52;MQRankSum=-3.709;QD=14;ReadPosRankSum=-0.236;SOR=1.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80314553;dbSNPBuildID=100;ANN=C|intergenic_region|MODIFIER|RABL2A-SLC35F5|RABL2A-SLC35F5|intergenic_region|RABL2A-SLC35F5|||n.113668538T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2590;p3_1000G_AF=0.517173;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs80314553;p3_1000G_DP=19657;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.4473;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114426115;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1176,0,898
chr2	113671996	rs17017000	C	T	786.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.105;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=2.872;MLEAC=1;MLEAF=0.5;MQ=59.18;MQRankSum=-0.114;QD=9.04;ReadPosRankSum=0.309;SOR=0.929;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17017000;dbSNPBuildID=123;ANN=T|intergenic_region|MODIFIER|RABL2A-SLC35F5|RABL2A-SLC35F5|intergenic_region|RABL2A-SLC35F5|||n.113671996C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1367;p3_1000G_AF=0.272963;p3_1000G_AFR_AF=0.4955;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=19148;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.0755;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114429573;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:50,37:87:99:815,0,1364
chr2	113756210	rs4538208	C	G	54.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.732;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=0.812;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4538208;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|SLC35F5|SLC35F5|transcript|NM_025181.3|protein_coding|1/15|c.40+160G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SLC35F5|SLC35F5|transcript|NR_104470.1|pseudogene|1/17|n.484G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4337;p3_1000G_AF=0.866014;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=13603;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.8996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=114513787;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:83:83,0,184
chr2	115064784	rs140804988	A	T	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.106;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=1.61;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140804988;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|1/26|c.27A>T|p.Gly9Gly|115/4857|27/2379|9/792||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|2/26|c.112-244455A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|1/24|c.61-244455A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|2/26|c.-90-244455A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|1/24|c.-587-279033A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|1/25|c.61-244455A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|2/26|c.-90-244455A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|2/25|c.86-279033A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|1/25|c.-90-244455A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|2/25|c.-90-244455A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=62;p3_1000G_AF=0.0123802;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17734;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115822361;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,21:44:99:428,0,525
chr2	115162100	rs7557011	C	G	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7557011;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|DPP10-AS1|DPP10-AS1|transcript|NR_036580.1|pseudogene||n.-757G>C|||||757|,G|upstream_gene_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding||c.-134C>G|||||7|,G|upstream_gene_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding||c.-134C>G|||||7|,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|2/26|c.112-147139C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|1/24|c.61-147139C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|2/26|c.-90-147139C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|1/24|c.-587-181717C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|1/25|c.61-147139C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|2/26|c.-90-147139C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|2/25|c.86-181717C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|1/25|c.-90-147139C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|2/25|c.-90-147139C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|1/25|c.48+97295C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|1/26|c.-77-57C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|1/25|c.-698+72C>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|1/25|c.72+72C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4899;p3_1000G_AF=0.978235;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=7137;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.9761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115919677;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:115162100_C_G:90,6,0
chr2	115162101	rs7573359	T	C	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7573359;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|DPP10-AS1|DPP10-AS1|transcript|NR_036580.1|pseudogene||n.-758A>G|||||758|,C|upstream_gene_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding||c.-133T>C|||||6|,C|upstream_gene_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding||c.-133T>C|||||6|,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|2/26|c.112-147138T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|1/24|c.61-147138T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|2/26|c.-90-147138T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|1/24|c.-587-181716T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|1/25|c.61-147138T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|2/26|c.-90-147138T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|2/25|c.86-181716T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|1/25|c.-90-147138T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|2/25|c.-90-147138T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|1/25|c.48+97296T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|1/26|c.-77-56T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|1/25|c.-698+73T>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|1/25|c.72+73T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4990;p3_1000G_AF=0.996406;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=7089;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=115919678;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:115162100_C_G:90,6,0
chr2	115309408	rs975453	G	A	896.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs975453;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|3/26|c.226+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|2/24|c.175+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|3/26|c.25+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|1/24|c.-587-34409G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|2/25|c.175+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|3/26|c.25+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|2/25|c.86-34409G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|2/25|c.25+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|3/25|c.25+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|2/25|c.163+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|3/26|c.154+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|2/25|c.-583+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|2/25|c.187+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|2/25|c.154+55G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|2/24|c.154+55G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3758;p3_1000G_AF=0.750399;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=20016;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.8161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116066984;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:925,84,0
chr2	115526092	rs984066	G	A	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=8.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=0;SOR=3.912;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs984066;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|6/26|c.492+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|5/24|c.441+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|6/26|c.291+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|4/24|c.-322+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|5/25|c.441+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|6/26|c.291+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|5/25|c.351+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|5/25|c.291+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|6/25|c.291+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|5/25|c.429+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|6/26|c.420+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|5/25|c.-317+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|5/25|c.453+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|5/25|c.420+120G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|4/24|c.324+120G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1182;p3_1000G_AF=0.236022;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=19539;p3_1000G_EAS_AF=0.3671;p3_1000G_EUR_AF=0.1988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116283668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:207,0,137
chr2	115739903	rs1550854	A	G	1533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1550854;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|10/26|c.903+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|9/24|c.852+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|10/26|c.702+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|8/24|c.90+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|9/25|c.852+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|10/26|c.702+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|9/25|c.762+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|9/25|c.702+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|10/25|c.702+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|9/25|c.840+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|10/26|c.831+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|9/25|c.90+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|9/25|c.864+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|9/25|c.831+10A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|8/24|c.735+10A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4782;p3_1000G_AF=0.954872;p3_1000G_AFR_AF=0.8343;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=21286;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116497479;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3834,572;ESP6500_AA_AGE=256.1+/-261.0;ESP6500_AA_GTC=1669,496,38;ESP6500_CDS_SIZES=NM_020868.3:2391,NM_001178037.1:2379,NM_001178036.1:2241,NM_001178034.1:2403,NM_001004360.3:2370;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=170;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020868.3:intron,NM_001178037.1:intron,NM_001178036.1:intron,NM_001178034.1:intron,NM_001004360.3:intron;ESP6500_GL=DPP10;ESP6500_GRCh38_POSITION=2:115739903;ESP6500_GTC=5967,498,38;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020868.3:c.852+10A>G,NM_001178037.1:c.840+10A>G,NM_001178036.1:c.702+10A>G,NM_001178034.1:c.864+10A>G,NM_001004360.3:c.831+10A>G;ESP6500_MAF=0.0233,12.9823,4.4133;ESP6500_TAC=12432,574	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1562,138,0
chr2	115739952	rs1550853	A	G	674.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1550853;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|10/26|c.903+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|9/24|c.852+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|10/26|c.702+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|8/24|c.90+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|9/25|c.852+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|10/26|c.702+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|9/25|c.762+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|9/25|c.702+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|10/25|c.702+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|9/25|c.840+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|10/26|c.831+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|9/25|c.90+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|9/25|c.864+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|9/25|c.831+59A>G||||||,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|8/24|c.735+59A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4862;p3_1000G_AF=0.970847;p3_1000G_AFR_AF=0.8949;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=21529;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116497528;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:703,57,0
chr2	115753241	rs2053724	G	C	619.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2053724;dbSNPBuildID=94;ANN=C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|12/27|c.1069G>C|p.Ala357Pro|1554/6334|1069/2442|357/813||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|11/25|c.1018G>C|p.Ala340Pro|1439/6180|1018/2352|340/783||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|12/27|c.868G>C|p.Ala290Pro|1497/6277|868/2241|290/746||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|10/25|c.256G>C|p.Ala86Pro|1324/6104|256/1629|86/542||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_020868.4|protein_coding|11/26|c.1018G>C|p.Ala340Pro|1439/6219|1018/2391|340/796||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|12/27|c.868G>C|p.Ala290Pro|1528/5306|868/2241|290/746||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|11/26|c.928G>C|p.Ala310Pro|1413/6193|928/2301|310/766||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|11/26|c.868G>C|p.Ala290Pro|1496/6276|868/2241|290/746||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|12/26|c.868G>C|p.Ala290Pro|1528/6234|868/2046|290/681||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|11/26|c.1006G>C|p.Ala336Pro|1094/4857|1006/2379|336/792||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|12/27|c.997G>C|p.Ala333Pro|1170/5950|997/2370|333/789||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|11/26|c.256G>C|p.Ala86Pro|1049/5829|256/1629|86/542||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|11/26|c.1030G>C|p.Ala344Pro|1051/4829|1030/2403|344/800||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|11/26|c.997G>C|p.Ala333Pro|1124/4902|997/2370|333/789||,C|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|10/25|c.901G>C|p.Ala301Pro|1028/5808|901/2274|301/757||;p3_1000G_AA=C|||;p3_1000G_AC=2651;p3_1000G_AF=0.529353;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=14616;p3_1000G_EAS_AF=0.7321;p3_1000G_EUR_AF=0.6252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116510817;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5787;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1001,3405;ESP6500_AA_AGE=729.7+/-410.1;ESP6500_AA_GTC=114,773,1316;ESP6500_CDS_SIZES=NM_020868.3:2391,NM_001178037.1:2379,NM_001178036.1:2241,NM_001178034.1:2403,NM_001004360.3:2370;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=115;ESP6500_EA_AC=5216,3384;ESP6500_EA_AGE=499.2+/-374.9;ESP6500_EA_GTC=1581,2054,665;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020868.3:missense,NM_001178037.1:missense,NM_001178036.1:missense,NM_001178034.1:missense,NM_001004360.3:missense;ESP6500_GL=DPP10;ESP6500_GRCh38_POSITION=2:115753241;ESP6500_GS=27,27,27,27,27;ESP6500_GTC=1695,2827,1981;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020868.3:c.1018G>C,NM_001178037.1:c.1006G>C,NM_001178036.1:c.868G>C,NM_001178034.1:c.1030G>C,NM_001004360.3:c.997G>C;ESP6500_HGVS_PROTEIN_VAR=NM_020868.3:p.(A340P),NM_001178037.1:p.(A336P),NM_001178036.1:p.(A290P),NM_001178034.1:p.(A344P),NM_001004360.3:p.(A333P);ESP6500_MAF=39.3488,22.719,47.801;ESP6500_PH=benign:0.027,benign:0.027,benign:0.027,benign:0.027,benign:0.027;ESP6500_TAC=6217,6789	GT:AD:DP:GQ:PL	1/1:0,22:22:66:648,66,0
chr2	115762389	rs3832037;rs398090567	GT	G	70.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3832037;dbSNPBuildID=107,138;ANN=G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|12/26|c.1126-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|11/24|c.1075-5905delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|12/26|c.925-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|10/24|c.313-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|11/25|c.1075-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|12/26|c.925-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|11/25|c.985-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|11/25|c.925-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|12/25|c.925-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|11/25|c.1063-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|12/26|c.1054-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|11/25|c.313-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|11/25|c.1087-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|11/25|c.1054-180delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|10/24|c.958-180delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TTT|TT|deletion;p3_1000G_AC=2226;p3_1000G_AF=0.444489;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=16581;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.5328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116519965;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:107,9,0
chr2	115768384	rs1446495	G	A	747.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.7;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1446495;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|14/27|c.1252G>A|p.Val418Ile|1737/6334|1252/2442|418/813||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|12/25|c.1162G>A|p.Val388Ile|1583/6180|1162/2352|388/783||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|14/27|c.1051G>A|p.Val351Ile|1680/6277|1051/2241|351/746||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|12/25|c.439G>A|p.Val147Ile|1507/6104|439/1629|147/542||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_020868.4|protein_coding|13/26|c.1201G>A|p.Val401Ile|1622/6219|1201/2391|401/796||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|14/27|c.1051G>A|p.Val351Ile|1711/5306|1051/2241|351/746||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|13/26|c.1111G>A|p.Val371Ile|1596/6193|1111/2301|371/766||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|13/26|c.1051G>A|p.Val351Ile|1679/6276|1051/2241|351/746||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|14/26|c.1051G>A|p.Val351Ile|1711/6234|1051/2046|351/681||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|13/26|c.1189G>A|p.Val397Ile|1277/4857|1189/2379|397/792||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|14/27|c.1180G>A|p.Val394Ile|1353/5950|1180/2370|394/789||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|13/26|c.439G>A|p.Val147Ile|1232/5829|439/1629|147/542||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|13/26|c.1213G>A|p.Val405Ile|1234/4829|1213/2403|405/800||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|13/26|c.1180G>A|p.Val394Ile|1307/4902|1180/2370|394/789||,A|missense_variant|MODERATE|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|12/25|c.1084G>A|p.Val362Ile|1211/5808|1084/2274|362/757||;p3_1000G_AA=A|||;p3_1000G_AC=4853;p3_1000G_AF=0.96905;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=17185;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116525960;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4008,398;ESP6500_AA_AGE=197.7+/-221.8;ESP6500_AA_GTC=1829,350,24;ESP6500_CDS_SIZES=NM_020868.3:2391,NM_001178037.1:2379,NM_001178036.1:2241,NM_001178034.1:2403,NM_001004360.3:2370;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=133;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020868.3:missense,NM_001178037.1:missense,NM_001178036.1:missense,NM_001178034.1:missense,NM_001004360.3:missense;ESP6500_GL=DPP10;ESP6500_GRCh38_POSITION=2:115768384;ESP6500_GS=29,29,29,29,29;ESP6500_GTC=6127,352,24;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020868.3:c.1201G>A,NM_001178037.1:c.1189G>A,NM_001178036.1:c.1051G>A,NM_001178034.1:c.1213G>A,NM_001004360.3:c.1180G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020868.3:p.(V401I),NM_001178037.1:p.(V397I),NM_001178036.1:p.(V351I),NM_001178034.1:p.(V405I),NM_001004360.3:p.(V394I);ESP6500_MAF=0.0233,9.0331,3.0755;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=12606,400	GT:AD:DP:GQ:PL	1/1:0,27:27:81:776,81,0
chr2	115791244	rs3738879	C	T	2122.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738879;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|19/26|c.1682-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|17/24|c.1592-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|19/26|c.1481-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|17/24|c.869-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|18/25|c.1631-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|19/26|c.1481-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|18/25|c.1541-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|18/25|c.1481-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|19/25|c.1481-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|18/25|c.1619-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|19/26|c.1610-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|18/25|c.869-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|18/25|c.1643-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|18/25|c.1610-43C>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|17/24|c.1514-43C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4164;p3_1000G_AF=0.83147;p3_1000G_AFR_AF=0.7663;p3_1000G_AMR_AF=0.8631;p3_1000G_AN=5008;p3_1000G_DP=15687;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.8201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116548820;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8098;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3411,991;ESP6500_AA_AGE=345.4+/-308.5;ESP6500_AA_GTC=1334,743,124;ESP6500_CDS_SIZES=NM_020868.3:2391,NM_001178037.1:2379,NM_001178036.1:2241,NM_001178034.1:2403,NM_001004360.3:2370;ESP6500_CG=3.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=78;ESP6500_EA_AC=6816,1782;ESP6500_EA_AGE=315.8+/-312.4;ESP6500_EA_GTC=2713,1390,196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020868.3:intron,NM_001178037.1:intron,NM_001178036.1:intron,NM_001178034.1:intron,NM_001004360.3:intron;ESP6500_GL=DPP10;ESP6500_GRCh38_POSITION=2:115791244;ESP6500_GTC=4047,2133,320;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020868.3:c.1631-43C>T,NM_001178037.1:c.1619-43C>T,NM_001178036.1:c.1481-43C>T,NM_001178034.1:c.1643-43C>T,NM_001004360.3:c.1610-43C>T;ESP6500_MAF=20.7258,22.5125,21.3308;ESP6500_TAC=10227,2773	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2151,236,0
chr2	115836099	rs10549769;rs142735411;rs770888493;rs796784914;rs796788747	ATG	A	66.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.5;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10549769,rs142735411;dbSNPBuildID=135,144,134,146,146;ANN=A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|22/26|c.2002-41_2002-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|20/24|c.1912-41_1912-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|22/26|c.1801-41_1801-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|20/24|c.1189-41_1189-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|21/25|c.1951-41_1951-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|22/26|c.1801-41_1801-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|21/25|c.1861-41_1861-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|21/25|c.1801-41_1801-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|22/25|c.1801-41_1801-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|21/25|c.1939-41_1939-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|22/26|c.1930-41_1930-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|21/25|c.1189-41_1189-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|21/25|c.1963-41_1963-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|21/25|c.1930-41_1930-40delTG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|20/24|c.1834-41_1834-40delTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,4:4:12:103,12,0
chr2	115836645	rs736335	G	C	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.424;SOR=1.274;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs736335;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|24/26|c.2161-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|22/24|c.2071-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|24/26|c.1960-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|22/24|c.1348-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|23/25|c.2110-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|24/26|c.1960-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|23/25|c.2020-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|23/25|c.1960-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|24/25|c.1960-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|23/25|c.2098-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|24/26|c.2089-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|23/25|c.1348-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|23/25|c.2122-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|23/25|c.2089-29G>C||||||,C|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|22/24|c.1993-29G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1152;p3_1000G_AF=0.230032;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=17951;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116594221;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=205,4193;ESP6500_AA_AGE=114.6+/-152.6;ESP6500_AA_GTC=3,199,1997;ESP6500_CDS_SIZES=NM_020868.3:2391,NM_001178037.1:2379,NM_001178036.1:2241,NM_001178034.1:2403,NM_001004360.3:2370;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=67;ESP6500_EA_AC=1978,6612;ESP6500_EA_AGE=341.9+/-324.3;ESP6500_EA_GTC=242,1494,2559;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020868.3:intron,NM_001178037.1:intron,NM_001178036.1:intron,NM_001178034.1:intron,NM_001004360.3:intron;ESP6500_GL=DPP10;ESP6500_GRCh38_POSITION=2:115836645;ESP6500_GTC=245,1693,4556;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020868.3:c.2110-29G>C,NM_001178037.1:c.2098-29G>C,NM_001178036.1:c.1960-29G>C,NM_001178034.1:c.2122-29G>C,NM_001004360.3:c.2089-29G>C;ESP6500_MAF=23.0268,4.6612,16.8078;ESP6500_TAC=2183,10805	GT:AD:DP:GQ:PL	0/1:13,15:28:99:418,0,241
chr2	115840970	rs272011	G	A	84.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs272011;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|26/26|c.2307+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|24/24|c.2217+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|26/26|c.2106+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|24/24|c.1494+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|25/25|c.2256+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|26/26|c.2106+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|25/25|c.2166+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|25/25|c.2106+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|25/25|c.2033-1241G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|25/25|c.2244+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|26/26|c.2235+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|25/25|c.1494+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|25/25|c.2268+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|25/25|c.2235+147G>A||||||,A|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|24/24|c.2139+147G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3993;p3_1000G_AF=0.797324;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=13284;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.9036;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116598546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:112,9,0
chr2	115842083	rs272010	A	T	234.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.54;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs272010;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|26/26|c.2308-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|24/24|c.2218-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|26/26|c.2107-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|24/24|c.1495-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|25/25|c.2257-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|26/26|c.2107-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|25/25|c.2167-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|25/25|c.2107-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|25/25|c.2033-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|25/25|c.2245-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|26/26|c.2236-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|25/25|c.1495-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|25/25|c.2269-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|25/25|c.2236-128A>T||||||,T|intron_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|24/24|c.2140-128A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4190;p3_1000G_AF=0.836661;p3_1000G_AFR_AF=0.6566;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=19913;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.9046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116599659;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:263,21,0
chr2	115842351	rs272009	T	C	907.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs272009;dbSNPBuildID=79;ANN=C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321905.1|protein_coding|27/27|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321907.1|protein_coding|25/25|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321910.1|protein_coding|27/27|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321913.1|protein_coding|25/25|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_020868.4|protein_coding|26/26|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178036.1|protein_coding|27/27|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321908.1|protein_coding|26/26|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321911.1|protein_coding|26/26|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321912.1|protein_coding|26/26|c.*127T>C|||||127|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178037.1|protein_coding|26/26|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321906.1|protein_coding|27/27|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321914.1|protein_coding|26/26|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001178034.1|protein_coding|26/26|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001004360.3|protein_coding|26/26|c.*6T>C|||||6|,C|3_prime_UTR_variant|MODIFIER|DPP10|DPP10|transcript|NM_001321909.1|protein_coding|25/25|c.*6T>C|||||6|;p3_1000G_AA=C|||;p3_1000G_AC=4921;p3_1000G_AF=0.982628;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20245;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=116599927;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4199,207;ESP6500_AA_AGE=129.4+/-166.1;ESP6500_AA_GTC=2002,195,6;ESP6500_CDS_SIZES=NM_020868.3:2391,NM_001178037.1:2379,NM_001178036.1:2241,NM_001178034.1:2403,NM_001004360.3:2370;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=73;ESP6500_EA_AC=8583,17;ESP6500_EA_AGE=12.6+/-44.7;ESP6500_EA_GTC=4283,17,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020868.3:utr-3,NM_001178037.1:utr-3,NM_001178036.1:utr-3,NM_001178034.1:utr-3,NM_001004360.3:utr-3;ESP6500_GL=DPP10;ESP6500_GRCh38_POSITION=2:115842351;ESP6500_GTC=6285,212,6;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020868.3:c.*6T>C,NM_001178037.1:c.*6T>C,NM_001178036.1:c.*6T>C,NM_001178034.1:c.*6T>C,NM_001004360.3:c.*6T>C;ESP6500_MAF=0.1977,4.6981,1.7223;ESP6500_TAC=12782,224	GT:AD:DP:GQ:PL	1/1:0,29:29:87:936,87,0
chr2	117814895	rs3755492	A	C	1020.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.394;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.383;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.83;ReadPosRankSum=0.257;SOR=0.398;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3755492;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|DDX18|DDX18|transcript|NM_006773.3|protein_coding|1/13|c.85+33A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1530;p3_1000G_AF=0.305511;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=15070;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.3757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118572471;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=580,3826;ESP6500_AA_GTC=80,420,1703;ESP6500_CDS_SIZES=NM_006773.3:2013;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=44;ESP6500_EA_AC=3355,5245;ESP6500_EA_GTC=649,2057,1594;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006773.3:intron;ESP6500_GL=DDX18;ESP6500_GRCh38_POSITION=2:117814895;ESP6500_GTC=729,2477,3297;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_006773.3:c.85+33A>C;ESP6500_MAF=39.0116,13.1639,30.2553;ESP6500_TAC=3935,9071	GT:AD:DP:GQ:PL	0/1:13,36:49:99:1049,0,309
chr2	117817639	rs1052637	C	G	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.69;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=2.991;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.762;SOR=1.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052637;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|DDX18|DDX18|transcript|NM_006773.3|protein_coding|2/14|c.281C>G|p.Thr94Ser|380/3765|281/2013|94/670||;p3_1000G_AA=C|||;p3_1000G_AC=2138;p3_1000G_AF=0.426917;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=17432;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118575215;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2550,1854;ESP6500_AA_AGE=590.2+/-387.3;ESP6500_AA_GTC=739,1072,391;ESP6500_CDS_SIZES=NM_006773.3:2013;ESP6500_CG=2.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=95;ESP6500_EA_AC=3143,5457;ESP6500_EA_AGE=463.4+/-366.0;ESP6500_EA_GTC=574,1995,1731;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006773.3:missense;ESP6500_GL=DDX18;ESP6500_GRCh38_POSITION=2:117817639;ESP6500_GS=58;ESP6500_GTC=1313,3067,2122;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006773.3:c.281C>G;ESP6500_HGVS_PROTEIN_VAR=NM_006773.3:p.(T94S);ESP6500_MAF=36.5465,42.0981,43.7788;ESP6500_PH=benign:0.02;ESP6500_TAC=5693,7311	GT:AD:DP:GQ:PL	0/1:17,15:32:99:471,0,481
chr2	117821115	rs3214497;rs397839964	TA	T	503.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.99;SOR=1.863;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3214497;dbSNPBuildID=134,138;ANN=T|intron_variant|MODIFIER|DDX18|DDX18|transcript|NM_006773.3|protein_coding|3/13|c.515-37delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TAAAAAAA|AAAAAAAAA|AAAAAAAA|complex_insertion;p3_1000G_AC=3666;p3_1000G_AF=0.732029;p3_1000G_AFR_AF=0.7572;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=17199;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.7962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118578691;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7157;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:541,54,0
chr2	117825360	rs112417042	A	ATAAAG	4397.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=97;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=0.969;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs112417042,rs58684604;dbSNPBuildID=132;ANN=ATAAAG|intron_variant|MODIFIER|DDX18|DDX18|transcript|NM_006773.3|protein_coding|9/13|c.1369-85_1369-84insAAGTA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4048;p3_1000G_AF=0.808307;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=20810;p3_1000G_EAS_AF=0.747;p3_1000G_EUR_AF=0.8529;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118582936;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,96:96:99:4435,298,0
chr2	117826364	rs2303348	C	T	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.284;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.598;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.703;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303348;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|DDX18|DDX18|transcript|NM_006773.3|protein_coding|11/14|c.1617C>T|p.Arg539Arg|1716/3765|1617/2013|539/670||;p3_1000G_AA=C|||;p3_1000G_AC=1521;p3_1000G_AF=0.303714;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=19496;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.3767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118583940;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=489,3917;ESP6500_AA_AGE=225.9+/-241.6;ESP6500_AA_GTC=29,431,1743;ESP6500_CDS_SIZES=NM_006773.3:2013;ESP6500_CG=-0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=71;ESP6500_EA_AC=3361,5239;ESP6500_EA_AGE=496.5+/-374.3;ESP6500_EA_GTC=653,2055,1592;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006773.3:coding-synonymous;ESP6500_GL=DDX18;ESP6500_GRCh38_POSITION=2:117826364;ESP6500_GTC=682,2486,3335;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006773.3:c.1617C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006773.3:p.(R539);ESP6500_MAF=39.0814,11.0985,29.6017;ESP6500_TAC=3850,9156	GT:AD:DP:GQ:PL	0/1:15,11:26:99:286,0,488
chr2	117931178	rs971754	T	C	1820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs971754;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|22/23|c.1729-28A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4841;p3_1000G_AF=0.966653;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19607;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118688754;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3936,470;ESP6500_AA_AGE=782.4+/-414.6;ESP6500_AA_GTC=1757,422,24;ESP6500_CDS_SIZES=NM_019044.4:1896;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=142;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=818.8+/-406.8;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019044.4:intron;ESP6500_GL=CCDC93;ESP6500_GRCh38_POSITION=2:117931178;ESP6500_GTC=6055,424,24;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_019044.4:c.1729-28A>G;ESP6500_MAF=0.0233,10.6673,3.6291;ESP6500_TAC=12534,472	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1849,174,0
chr2	117935353	rs12151445	G	A	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.347;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=1.18;SOR=0.235;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12151445;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|22/23|c.1728+142C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1715;p3_1000G_AF=0.342452;p3_1000G_AFR_AF=0.5643;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=18418;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118692929;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:287,0,210
chr2	117935412	rs145071319	C	T	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.44;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.412;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-1.642;SOR=1.531;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145071319;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|22/23|c.1728+83G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20102;p3_1000G_EAS_AF=0.0188;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118692988;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,13:33:99:311,0,499
chr2	117936817	rs2303333	C	G	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.336;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.426;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303333;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|20/23|c.1606-78G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1718;p3_1000G_AF=0.343051;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=23038;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118694393;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=683,701;ESP6500_AA_GTC=160,363,169;ESP6500_CDS_SIZES=NM_019044.4:1896;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=1109,2073;ESP6500_EA_GTC=194,721,676;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019044.4:intron;ESP6500_GL=CCDC93;ESP6500_GRCh38_POSITION=2:117936817;ESP6500_GTC=354,1084,845;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_019044.4:c.1606-78G>C;ESP6500_MAF=34.8523,49.3497,39.2466;ESP6500_TAC=1792,2774	GT:AD:DP:GQ:PL	0/1:10,10:20:99:298,0,295
chr2	117941123	rs2303330	A	G	707.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.401;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=5.357;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=-0.114;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303330;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|19/23|c.1522+66T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1328;p3_1000G_AF=0.265176;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=18186;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118698699;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,27:39:99:736,0,373
chr2	117946706	.	T	G	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.24;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.306;SOR=0.399;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|16/23|c.1296+105A>C||||||	GT:AD:DP:GQ:PL	0/1:11,8:19:99:245,0,302
chr2	117946902	rs7580124	T	G	1433.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.17;SOR=1.464;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7580124;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|15/23|c.1225-20A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4967;p3_1000G_AF=0.991813;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20799;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118704478;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4333,73;ESP6500_AA_AGE=64.7+/-102.0;ESP6500_AA_GTC=2130,73,0;ESP6500_CDS_SIZES=NM_019044.4:1896;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=95;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019044.4:intron;ESP6500_GL=CCDC93;ESP6500_GRCh38_POSITION=2:117946902;ESP6500_GTC=6430,73,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_019044.4:c.1225-20A>C;ESP6500_MAF=0.0,1.6568,0.5613;ESP6500_TAC=12933,73	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1462,138,0
chr2	117946927	rs2303329	A	G	558.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.49;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.485;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=-0.86;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303329;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|15/23|c.1225-45T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2976;p3_1000G_AF=0.594249;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=20781;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118704503;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1746,2660;ESP6500_AA_AGE=520.9+/-370.4;ESP6500_AA_GTC=337,1072,794;ESP6500_CDS_SIZES=NM_019044.4:1896;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=72;ESP6500_EA_AC=4937,3663;ESP6500_EA_AGE=621.7+/-397.2;ESP6500_EA_GTC=1427,2083,790;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019044.4:intron;ESP6500_GL=CCDC93;ESP6500_GRCh38_POSITION=2:117946927;ESP6500_GTC=1764,3155,1584;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019044.4:c.1225-45T>C;ESP6500_MAF=42.593,39.6278,48.616;ESP6500_TAC=6683,6323	GT:AD:DP:GQ:PL	0/1:15,18:33:99:587,0,340
chr2	117947994	rs10186396	A	G	1103.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.45;SOR=2.517;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10186396;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|15/23|c.1224+111T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4853;p3_1000G_AF=0.96905;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=17235;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118705570;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1132,99,0
chr2	117949303	rs1035598	A	G	1128.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1035598;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|14/23|c.1142+19T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4841;p3_1000G_AF=0.966653;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19775;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118706879;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3936,470;ESP6500_AA_AGE=223.0+/-239.6;ESP6500_AA_GTC=1757,422,24;ESP6500_CDS_SIZES=NM_019044.4:1896;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=179;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019044.4:intron;ESP6500_GL=CCDC93;ESP6500_GRCh38_POSITION=2:117949303;ESP6500_GTC=6055,424,24;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019044.4:c.1142+19T>C;ESP6500_MAF=0.0233,10.6673,3.6291;ESP6500_TAC=12534,472	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1157,111,0
chr2	117973997	rs748767	G	A	819.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.439;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=5.656;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.056;SOR=0.256;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs748767;dbSNPBuildID=86;ANN=A|splice_region_variant&intron_variant|LOW|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|10/23|c.802-3C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2091;p3_1000G_AF=0.417532;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=18511;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.4016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118731573;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1229,3177;ESP6500_AA_AGE=408.6+/-334.7;ESP6500_AA_GTC=180,869,1154;ESP6500_CDS_SIZES=NM_019044.4:1896;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=49;ESP6500_EA_AC=3647,4953;ESP6500_EA_AGE=498.4+/-374.7;ESP6500_EA_GTC=774,2099,1427;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019044.4:intron;ESP6500_GL=CCDC93;ESP6500_GRCh38_POSITION=2:117973997;ESP6500_GTC=954,2968,2581;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019044.4:c.802-3C>T;ESP6500_MAF=42.407,27.8938,37.4904;ESP6500_TAC=4876,8130	GT:AD:DP:GQ:PL	0/1:22,35:57:99:848,0,625
chr2	117977819	rs889899	G	A	211.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs889899;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|8/23|c.657+175C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=4852;p3_1000G_AF=0.96885;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=17936;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118735395;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:240,18,0
chr2	117995572	rs10633675;rs147857239	A	ATC	277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.65;SOR=0.941;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10633675;dbSNPBuildID=130;ANN=ATC|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|5/23|c.463-71_463-70insGA||||||;p3_1000G_AC=4852;p3_1000G_AF=0.96885;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=17264;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118753148;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3849,417;ESP6500_AA_GTC=1733,383,17;ESP6500_CDS_SIZES=NM_019044.4:1896;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=50;ESP6500_EA_AC=8227,27;ESP6500_EA_GTC=4101,25,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019044.4:intron;ESP6500_GL=CCDC93;ESP6500_GRCh38_POSITION=2:117995572;ESP6500_GTC=5834,408,18;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_019044.4:c.463-71_463-70insGA;ESP6500_MAF=0.3271,9.775,3.5463;ESP6500_TAC=12076,444	GT:AD:DP:GQ:PL	1/1:0,7:7:21:315,21,0
chr2	118006666	rs34609704	C	CA	171.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.81;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.269;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34609704;dbSNPBuildID=126;ANN=CA|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|3/23|c.251+55dupT||||||;p3_1000G_AA=A|A|AA|insertion;p3_1000G_AC=2119;p3_1000G_AF=0.423123;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=20091;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.3907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118764242;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,7:11:99:209,0,117
chr2	118006951	rs4849654	T	A	137.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4849654;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|2/23|c.157-135A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4842;p3_1000G_AF=0.966853;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=19714;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118764527;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:166,15,0
chr2	118008448	rs10864966	A	G	481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.13;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10864966;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|2/23|c.156+97T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4853;p3_1000G_AF=0.96905;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=20843;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118766024;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:510,39,0
chr2	118013990	rs11545372	C	A	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=8.212;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.22;ReadPosRankSum=0.66;SOR=2.29;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11545372;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|1/24|c.6G>T|p.Gly2Gly|174/6929|6/1896|2/631||;p3_1000G_AA=C|||;p3_1000G_AC=1604;p3_1000G_AF=0.320288;p3_1000G_AFR_AF=0.4894;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=10351;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.3459;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118771566;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1828,2574;ESP6500_AA_GTC=393,1042,766;ESP6500_CDS_SIZES=NM_019044.4:1896;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=22;ESP6500_EA_AC=2829,5755;ESP6500_EA_GTC=508,1813,1971;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019044.4:coding-synonymous;ESP6500_GL=CCDC93;ESP6500_GRCh38_POSITION=2:118013990;ESP6500_GTC=901,2855,2737;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_019044.4:c.6G>T;ESP6500_HGVS_PROTEIN_VAR=NM_019044.4:p.(G2);ESP6500_MAF=32.9567,41.5266,35.8617;ESP6500_TAC=4657,8329	GT:AD:DP:GQ:PL	0/1:27,12:39:99:271,0,674
chr2	118014087	rs12477588	A	G	425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12477588;dbSNPBuildID=120;ANN=G|5_prime_UTR_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|1/24|c.-92T>C|||||92|;p3_1000G_AA=G|||;p3_1000G_AC=4853;p3_1000G_AF=0.96905;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=9030;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=118771663;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:454,42,0
chr2	118014106	rs58181584;rs777673050;rs796837507;rs879238801	TGCC	T	224.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.35;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs72274700,rs72372808,rs58181584;dbSNPBuildID=137,144,147,146;ANN=T|5_prime_UTR_variant|MODIFIER|CCDC93|CCDC93|transcript|NM_019044.4|protein_coding|1/24|c.-114_-112delGGC|||||112|	GT:AD:DP:GQ:PL	1/1:0,6:6:18:262,18,0
chr2	118846679	rs79126103	C	T	280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.511;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.18;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79126103;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|EN1|EN1|transcript|NM_001426.3|protein_coding|1/2|c.489G>A|p.Ala163Ala|1505/2962|489/1179|163/392||;p3_1000G_AA=C|||;p3_1000G_AC=316;p3_1000G_AF=0.063099;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=4825;p3_1000G_EAS_AF=0.0397;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119604255;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=98,4216;ESP6500_AA_GTC=3,92,2062;ESP6500_CDS_SIZES=NM_001426.3:1179;ESP6500_CG=-0.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=12;ESP6500_EA_AC=416,8046;ESP6500_EA_GTC=6,404,3821;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001426.3:coding-synonymous;ESP6500_GL=EN1;ESP6500_GRCh38_POSITION=2:118846679;ESP6500_GTC=9,496,5883;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001426.3:c.489G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001426.3:p.(A163);ESP6500_MAF=4.9161,2.2717,4.0232;ESP6500_TAC=514,12262	GT:AD:DP:GQ:PL	0/1:10,11:21:99:309,0,256
chr2	118942520	rs2077344	T	C	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.387;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=2.63;SOR=0.238;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2077344;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|MARCO|MARCO|transcript|NM_006770.3|protein_coding|1/16|c.97+123T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2932;p3_1000G_AF=0.585463;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=19917;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.6531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119700096;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:218,0,272
chr2	118974466	rs11693199	T	C	560.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.555;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.175;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11693199;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MARCO|MARCO|transcript|NM_006770.3|protein_coding|5/16|c.568+26T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=843;p3_1000G_AF=0.168331;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=19485;p3_1000G_EAS_AF=0.0665;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119732042;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=429,3977;ESP6500_AA_AGE=202.1+/-225.0;ESP6500_AA_GTC=22,385,1796;ESP6500_CDS_SIZES=NM_006770.3:1563;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=120;ESP6500_EA_AC=3550,5050;ESP6500_EA_AGE=503.2+/-375.9;ESP6500_EA_GTC=760,2030,1510;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006770.3:intron;ESP6500_GL=MARCO;ESP6500_GRCh38_POSITION=2:118974466;ESP6500_GTC=782,2415,3306;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006770.3:c.568+26T>C;ESP6500_MAF=41.2791,9.7367,30.5936;ESP6500_TAC=3979,9027	GT:AD:DP:GQ:PL	0/1:24,21:45:99:589,0,652
chr2	118981693	rs56216274	C	T	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.237;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=0.788;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56216274;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|MARCO|MARCO|transcript|NM_006770.3|protein_coding|10/16|c.901+37C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1201;p3_1000G_AF=0.239816;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=17650;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.4612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119739269;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2331;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=716,3680;ESP6500_AA_AGE=260.4+/-263.7;ESP6500_AA_GTC=67,582,1549;ESP6500_CDS_SIZES=NM_006770.3:1563;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=66;ESP6500_EA_AC=3755,4843;ESP6500_EA_AGE=519.1+/-379.4;ESP6500_EA_GTC=817,2121,1361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006770.3:intron;ESP6500_GL=MARCO;ESP6500_GRCh38_POSITION=2:118981693;ESP6500_GTC=884,2703,2910;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006770.3:c.901+37C>T;ESP6500_MAF=43.6729,16.2875,34.4082;ESP6500_TAC=4471,8523	GT:AD:DP:GQ:PL	0/1:5,16:21:97:401,0,97
chr2	118990559	rs3835093;rs397809695;rs537022852;rs554218894	TC	T	453.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.644;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=-0.659;SOR=0.25;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3835093;dbSNPBuildID=137,138;ANN=T|intron_variant|MODIFIER|MARCO|MARCO|transcript|NM_006770.3|protein_coding|12/16|c.1064-20delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2080;p3_1000G_AF=0.415335;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=20889;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.3111;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119748135;p3_1000G_GRCH37_REF=TC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:4,20:24:39:491,0,39
chr2	118991901	rs2304708	T	G	1174.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304708;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MARCO|MARCO|transcript|NM_006770.3|protein_coding|14/16|c.1207+26T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4349;p3_1000G_AF=0.868411;p3_1000G_AFR_AF=0.7708;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=19593;p3_1000G_EAS_AF=0.9613;p3_1000G_EUR_AF=0.8907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119749477;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9039;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3438,948;ESP6500_AA_GTC=1350,738,105;ESP6500_CDS_SIZES=NM_006770.3:1563;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=7418,1158;ESP6500_EA_GTC=3210,998,80;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006770.3:intron;ESP6500_GL=MARCO;ESP6500_GRCh38_POSITION=2:118991901;ESP6500_GTC=4560,1736,185;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_006770.3:c.1207+26T>G;ESP6500_MAF=13.5028,21.6142,16.2475;ESP6500_TAC=10856,2106	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1203,105,0
chr2	118992035	rs4848530	C	T	30.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.611;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=0.619;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4848530;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MARCO|MARCO|transcript|NM_006770.3|protein_coding|14/16|c.1207+160C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1448;p3_1000G_AF=0.289137;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=19857;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119749611;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:59:59,0,232
chr2	118994193	rs139356455;rs568451117;rs869049573;rs869287277;rs558955046	AAAC	A	398.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.333;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.358;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.953;SOR=0.148;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs139356455;dbSNPBuildID=134,147,147,142;ANN=A|intron_variant|MODIFIER|MARCO|MARCO|transcript|NM_006770.3|protein_coding|16/16|c.1430-167_1430-165delCAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2759;p3_1000G_AF=0.550919;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=27798;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.667;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119751769;p3_1000G_GRCH37_REF=AAAC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5665;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:14,12:26:99:436,0,538
chr2	119157556	rs11308896;rs796798223	CG	C	400.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.326;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=0.014;SOR=0.68;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11308896;dbSNPBuildID=131,146;ANN=C|intron_variant|MODIFIER|C1QL2|C1QL2|transcript|NM_182528.3|protein_coding|1/1|c.684+29delC||||||;p3_1000G_AA=GGGG|GGGGG|GGGG|insertion;p3_1000G_AC=4733;p3_1000G_AF=0.945088;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=13885;p3_1000G_EAS_AF=0.9554;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119915132;p3_1000G_GRCH37_REF=CG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9049;p3_1000G_VT=INDEL;ESP6500_AA_AC=3913,321;ESP6500_AA_GTC=1812,289,16;ESP6500_CDS_SIZES=NM_182528.3:864;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=25;ESP6500_EA_AC=8078,164;ESP6500_EA_GTC=3960,158,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182528.3:intron;ESP6500_GL=C1QL2;ESP6500_GRCh38_POSITION=2:119157556;ESP6500_GTC=5772,447,19;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_182528.3:c.684+29del1;ESP6500_MAF=1.9898,7.5815,3.8875;ESP6500_TAC=11991,485	GT:AD:DP:GQ:PL	0/1:22,17:39:99:438,0,599
chr2	119157673	rs7556873	T	C	761.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.448;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=1.907;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.309;SOR=0.456;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7556873;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|C1QL2|C1QL2|transcript|NM_182528.3|protein_coding|1/2|c.597A>G|p.Val199Val|1223/2049|597/864|199/287||;p3_1000G_AA=C|||;p3_1000G_AC=2937;p3_1000G_AF=0.586462;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=14262;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119915249;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5736;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2715,1691;ESP6500_AA_AGE=502.9+/-365.4;ESP6500_AA_GTC=828,1059,316;ESP6500_CDS_SIZES=NM_182528.3:864;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=69;ESP6500_EA_AC=6476,2124;ESP6500_EA_AGE=364.5+/-333.5;ESP6500_EA_GTC=2444,1588,268;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182528.3:coding-synonymous;ESP6500_GL=C1QL2;ESP6500_GRCh38_POSITION=2:119157673;ESP6500_GTC=3272,2647,584;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_182528.3:c.597A>G;ESP6500_HGVS_PROTEIN_VAR=NM_182528.3:p.(V199);ESP6500_MAF=24.6977,38.3795,29.3326;ESP6500_TAC=9191,3815	GT:AD:DP:GQ:PL	0/1:42,34:76:99:790,0,1120
chr2	119230989	rs838100	G	A	910.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.125;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0.967;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-1.048;SOR=0.953;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs838100;dbSNPBuildID=86;ANN=A|5_prime_UTR_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_182915.2|protein_coding|2/6|c.-24G>A|||||24|,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_001008410.1|protein_coding|1/4|c.-9+7101G>A||||||,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_018234.2|protein_coding|1/5|c.-77+7101G>A||||||,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_138637.2|protein_coding|1/5|c.-9+7101G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1396;p3_1000G_AF=0.278754;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=20189;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.4185;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=119988565;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=839,3451;ESP6500_AA_GTC=100,639,1406;ESP6500_CDS_SIZES=NM_182915.2:1497,NM_018234.2:1467,NM_001008410.1:1467;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=74;ESP6500_EA_AC=3492,4984;ESP6500_EA_GTC=747,1998,1493;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182915.2:utr-5,NM_018234.2:intron,NM_001008410.1:intron;ESP6500_GL=STEAP3;ESP6500_GRCh38_POSITION=2:119230989;ESP6500_GTC=847,2637,2899;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182915.2:c.-24G>A,NM_018234.2:c.-14508G>A,NM_001008410.1:c.-14508G>A;ESP6500_MAF=41.1987,19.5571,33.9261;ESP6500_TAC=4331,8435	GT:AD:DP:GQ:PL	0/1:29,36:65:99:939,0,685
chr2	119246016	rs59695964	G	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.382;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.464;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59695964;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_182915.2|protein_coding|3/5|c.522+28G>A||||||,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_001008410.1|protein_coding|2/4|c.492+28G>A||||||,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_018234.2|protein_coding|3/5|c.492+28G>A||||||,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_138637.2|protein_coding|2/5|c.492+28G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|STEAP3-AS1|STEAP3-AS1|transcript|NR_046721.1|pseudogene|2/2|n.1624C>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=79;p3_1000G_AF=0.0157748;p3_1000G_AFR_AF=0.0454;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=20390;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120003592;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=174,4232;ESP6500_AA_GTC=5,164,2034;ESP6500_CDS_SIZES=NM_182915.2:1497,NM_018234.2:1467,NM_001008410.1:1467;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=49;ESP6500_EA_AC=6,8594;ESP6500_EA_GTC=0,6,4294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182915.2:intron,NM_018234.2:intron,NM_001008410.1:intron;ESP6500_GL=STEAP3;ESP6500_GRCh38_POSITION=2:119246016;ESP6500_GTC=5,170,6328;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182915.2:c.522+28G>A,NM_018234.2:c.492+28G>A,NM_001008410.1:c.492+28G>A;ESP6500_MAF=0.0698,3.9492,1.384;ESP6500_TAC=180,12826	GT:AD:DP:GQ:PL	0/1:16,10:26:99:237,0,514
chr2	119246066	rs838083	C	T	639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs838083;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_182915.2|protein_coding|3/5|c.522+78C>T||||||,T|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_001008410.1|protein_coding|2/4|c.492+78C>T||||||,T|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_018234.2|protein_coding|3/5|c.492+78C>T||||||,T|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_138637.2|protein_coding|2/5|c.492+78C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|STEAP3-AS1|STEAP3-AS1|transcript|NR_046721.1|pseudogene|2/2|n.1574G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4412;p3_1000G_AF=0.88099;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=22047;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120003642;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:668,54,0
chr2	119247993	rs17805141	C	T	1184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.128;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=1.464;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.29;SOR=0.567;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17805141;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|STEAP3|STEAP3|transcript|NM_182915.2|protein_coding|4/6|c.837C>T|p.Leu279Leu|1311/4284|837/1497|279/498||,T|synonymous_variant|LOW|STEAP3|STEAP3|transcript|NM_001008410.1|protein_coding|3/5|c.807C>T|p.Leu269Leu|896/3869|807/1467|269/488||,T|synonymous_variant|LOW|STEAP3|STEAP3|transcript|NM_018234.2|protein_coding|4/6|c.807C>T|p.Leu269Leu|964/3937|807/1467|269/488||,T|synonymous_variant|LOW|STEAP3|STEAP3|transcript|NM_138637.2|protein_coding|3/6|c.807C>T|p.Leu269Leu|896/4101|807/1374|269/457||,T|intron_variant|MODIFIER|STEAP3-AS1|STEAP3-AS1|transcript|NR_046721.1|pseudogene|1/1|n.758+321G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=193;p3_1000G_AF=0.0385383;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=17588;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0.0626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120005569;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=87,4319;ESP6500_AA_AGE=73.1+/-111.1;ESP6500_AA_GTC=0,87,2116;ESP6500_CDS_SIZES=NM_182915.2:1497,NM_018234.2:1467,NM_001008410.1:1467;ESP6500_CG=0.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=73;ESP6500_EA_AC=493,8107;ESP6500_EA_AGE=142.8+/-198.9;ESP6500_EA_GTC=15,463,3822;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182915.2:coding-synonymous,NM_018234.2:coding-synonymous,NM_001008410.1:coding-synonymous;ESP6500_GL=STEAP3;ESP6500_GRCh38_POSITION=2:119247993;ESP6500_GTC=15,550,5938;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182915.2:c.837C>T,NM_018234.2:c.807C>T,NM_001008410.1:c.807C>T;ESP6500_HGVS_PROTEIN_VAR=NM_182915.2:p.(L279),NM_018234.2:p.(L269),NM_001008410.1:p.(L269);ESP6500_MAF=5.7326,1.9746,4.4595;ESP6500_TAC=580,12426	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1213,0,1608
chr2	119248263	rs5833785	CT	C	404.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.496;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.98;ReadPosRankSum=0.328;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5833785;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_182915.2|protein_coding|4/5|c.1050+58delT||||||,C|intron_variant|MODIFIER|STEAP3-AS1|STEAP3-AS1|transcript|NR_046721.1|pseudogene|1/1|n.758+50delA||||||,C|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_001008410.1|protein_coding|3/4|c.1020+58delT||||||,C|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_018234.2|protein_coding|4/5|c.1020+58delT||||||,C|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_138637.2|protein_coding|3/5|c.1020+58delT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,11:15:99:0|1:119248263_CT_C:442,0,239
chr2	119248272	rs1530524	C	T	379.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.867;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.13;ReadPosRankSum=0.213;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1530524;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_182915.2|protein_coding|4/5|c.1050+66C>T||||||,T|intron_variant|MODIFIER|STEAP3-AS1|STEAP3-AS1|transcript|NR_046721.1|pseudogene|1/1|n.758+42G>A||||||,T|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_001008410.1|protein_coding|3/4|c.1020+66C>T||||||,T|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_018234.2|protein_coding|4/5|c.1020+66C>T||||||,T|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_138637.2|protein_coding|3/5|c.1020+66C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,10:14:99:0|1:119248263_CT_C:408,0,242
chr2	119254595	rs12711924	G	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.1;ReadPosRankSum=-0.319;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12711924;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_182915.2|protein_coding|4/5|c.1051-89G>A||||||,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_001008410.1|protein_coding|3/4|c.1021-89G>A||||||,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_018234.2|protein_coding|4/5|c.1021-89G>A||||||,A|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_138637.2|protein_coding|3/5|c.1021-89G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1985;p3_1000G_AF=0.396366;p3_1000G_AFR_AF=0.1195;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=19366;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120012171;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:49:189,0,49
chr2	119257409	rs838072	A	G	1472.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs838072;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_182915.2|protein_coding|5/5|c.1215+2561A>G||||||,G|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_001008410.1|protein_coding|4/4|c.1185+2561A>G||||||,G|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_018234.2|protein_coding|5/5|c.1185+2561A>G||||||,G|intron_variant|MODIFIER|STEAP3|STEAP3|transcript|NM_138637.2|protein_coding|4/5|c.1186-48A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4862;p3_1000G_AF=0.970847;p3_1000G_AFR_AF=0.9682;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=18138;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120014985;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1501,114,0
chr2	119302412	rs1890	T	C	417.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1890;dbSNPBuildID=36;ANN=C|3_prime_UTR_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001017927.3|protein_coding|7/7|c.*60A>G|||||60|,C|3_prime_UTR_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322329.1|protein_coding|7/7|c.*60A>G|||||60|,C|3_prime_UTR_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322330.1|protein_coding|6/6|c.*60A>G|||||60|,C|3_prime_UTR_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322331.1|protein_coding|6/6|c.*60A>G|||||60|,C|3_prime_UTR_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322332.1|protein_coding|5/5|c.*60A>G|||||60|;p3_1000G_AA=C|||;p3_1000G_AC=3322;p3_1000G_AF=0.663339;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=13633;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.6491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120059988;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1233,151;ESP6500_AA_GTC=556,121,15;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=89;ESP6500_EA_AC=2100,1082;ESP6500_EA_GTC=701,698,192;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=2:119302412;ESP6500_GTC=1257,819,207;ESP6500_GTS=CC,CT,TT;ESP6500_MAF=34.0038,10.9104,27.0039;ESP6500_TAC=3333,1233	GT:AD:DP:GQ:PL	1/1:0,14:14:42:446,42,0
chr2	119302506	rs1052500	T	C	489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.21;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052500;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001017927.3|protein_coding|7/7|c.347A>G|p.Lys116Arg|948/1237|347/381|116/126||,C|missense_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001322329.1|protein_coding|7/7|c.347A>G|p.Lys116Arg|869/1158|347/381|116/126||,C|missense_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001322330.1|protein_coding|6/6|c.347A>G|p.Lys116Arg|745/1034|347/381|116/126||,C|missense_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001322331.1|protein_coding|6/6|c.347A>G|p.Lys116Arg|398/687|347/381|116/126||,C|missense_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001322332.1|protein_coding|5/5|c.296A>G|p.Lys99Arg|347/636|296/330|99/109||;p3_1000G_AA=T|||;p3_1000G_AC=3322;p3_1000G_AF=0.663339;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=14902;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.6491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120060082;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3207,429;ESP6500_AA_GTC=1429,349,40;ESP6500_CDS_SIZES=NM_001017927.2:381;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=93;ESP6500_EA_AC=5329,2823;ESP6500_EA_GTC=1729,1871,476;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001017927.2:missense;ESP6500_GL=C2orf76;ESP6500_GRCh38_POSITION=2:119302506;ESP6500_GS=26;ESP6500_GTC=3158,2220,516;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001017927.2:c.347A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001017927.2:p.(K116R);ESP6500_MAF=34.6295,11.7987,27.5874;ESP6500_PH=benign:0.0;ESP6500_TAC=8536,3252	GT:AD:DP:GQ:PL	1/1:0,18:18:54:518,54,0
chr2	119321202	rs1132267;rs6542522	T	C	526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.72;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1132267;dbSNPBuildID=137;ANN=C|missense_variant&splice_region_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001017927.3|protein_coding|4/7|c.136A>G|p.Ile46Val|737/1237|136/381|46/126||,C|missense_variant&splice_region_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001322329.1|protein_coding|4/7|c.136A>G|p.Ile46Val|658/1158|136/381|46/126||,C|missense_variant&splice_region_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001322330.1|protein_coding|3/6|c.136A>G|p.Ile46Val|534/1034|136/381|46/126||,C|missense_variant&splice_region_variant|MODERATE|C2orf76|C2orf76|transcript|NM_001322331.1|protein_coding|3/6|c.136A>G|p.Ile46Val|187/687|136/381|46/126||,C|intron_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322332.1|protein_coding|2/4|c.134-3699A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3283;p3_1000G_AF=0.655551;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=14333;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.6531;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120078778;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2880,702;ESP6500_AA_GTC=1163,554,74;ESP6500_CDS_SIZES=NM_001017927.2:381;ESP6500_CG=-2.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=72;ESP6500_EA_AC=5362,2776;ESP6500_EA_GTC=1769,1824,476;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001017927.2:missense;ESP6500_GL=C2orf76;ESP6500_GRCh38_POSITION=2:119321202;ESP6500_GS=29;ESP6500_GTC=2932,2378,550;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001017927.2:c.136A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001017927.2:p.(I46V);ESP6500_MAF=34.1116,19.598,29.6758;ESP6500_PH=benign:0.004;ESP6500_TAC=8242,3478	GT:AD:DP:GQ:PL	1/1:0,19:19:57:555,57,0
chr2	119367453	rs2084202	A	G	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.499;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=6.094;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.721;SOR=1.065;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2084202;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|DBI|DBI|transcript|NM_001178017.1|protein_coding|1/4|c.117A>G|p.Arg39Arg|201/759|117/447|39/148||,G|synonymous_variant|LOW|DBI|DBI|transcript|NM_001178041.2|protein_coding|2/5|c.60A>G|p.Arg20Arg|188/751|60/390|20/129||,G|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001017927.3|protein_coding||c.-27494T>C|||||711|,G|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322329.1|protein_coding||c.-27494T>C|||||711|,G|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322330.1|protein_coding||c.-27494T>C|||||711|,G|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322331.1|protein_coding||c.-27494T>C|||||625|,G|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322332.1|protein_coding||c.-27494T>C|||||625|,G|upstream_gene_variant|MODIFIER|DBI|DBI|transcript|NM_001079863.1|protein_coding||c.-467A>G|||||222|,G|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001079862.2|protein_coding|1/3|c.9+393A>G||||||,G|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178042.2|protein_coding|1/4|c.-21-111A>G||||||,G|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178043.2|protein_coding|1/3|c.39+363A>G||||||,G|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282633.1|protein_coding|1/4|c.-26-106A>G||||||,G|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282634.1|protein_coding|1/4|c.-26-106A>G||||||,G|intron_variant|MODIFIER|DBI|DBI|transcript|NM_020548.7|protein_coding|1/4|c.-21-111A>G||||||,G|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282635.1|protein_coding|1/4|c.-26-106A>G||||||,G|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282636.1|protein_coding|1/3|c.-64+239A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DBI|DBI|transcript|NR_104221.1|pseudogene|1/4|n.406A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4464;p3_1000G_AF=0.891374;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=14506;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.8579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120125029;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,11:28:99:315,0,500
chr2	119367787	rs3091405	C	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.001;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-1.31;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3091405;dbSNPBuildID=103;ANN=A|5_prime_UTR_variant|MODIFIER|DBI|DBI|transcript|NM_001079863.1|protein_coding|1/4|c.-133C>A|||||133|,A|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001017927.3|protein_coding||c.-27828G>T|||||1045|,A|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322329.1|protein_coding||c.-27828G>T|||||1045|,A|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322330.1|protein_coding||c.-27828G>T|||||1045|,A|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322331.1|protein_coding||c.-27828G>T|||||959|,A|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322332.1|protein_coding||c.-27828G>T|||||959|,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178017.1|protein_coding|1/3|c.192+259C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001079862.2|protein_coding|1/3|c.10-401C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178041.2|protein_coding|2/4|c.135+259C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178042.2|protein_coding|2/4|c.60+143C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178043.2|protein_coding|1/3|c.40-401C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282633.1|protein_coding|2/4|c.60+143C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282634.1|protein_coding|2/4|c.60+143C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_020548.7|protein_coding|2/4|c.60+143C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282635.1|protein_coding|2/4|c.60+143C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282636.1|protein_coding|1/3|c.-63-401C>A||||||,A|intron_variant|MODIFIER|DBI|DBI|transcript|NR_104221.1|pseudogene|1/3|n.416+324C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1445;p3_1000G_AF=0.288538;p3_1000G_AFR_AF=0.3245;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=14562;p3_1000G_EAS_AF=0.2996;p3_1000G_EUR_AF=0.2952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120125363;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,5:16:99:150,0,389
chr2	119368360	rs2244135	T	C	669.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.547;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.662;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2244135;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001017927.3|protein_coding||c.-28401A>G|||||1618|,C|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322329.1|protein_coding||c.-28401A>G|||||1618|,C|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322330.1|protein_coding||c.-28401A>G|||||1618|,C|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322331.1|protein_coding||c.-28401A>G|||||1532|,C|upstream_gene_variant|MODIFIER|C2orf76|C2orf76|transcript|NM_001322332.1|protein_coding||c.-28401A>G|||||1532|,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178017.1|protein_coding|2/3|c.310+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001079862.2|protein_coding|2/3|c.127+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178041.2|protein_coding|3/4|c.253+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178042.2|protein_coding|3/4|c.178+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001178043.2|protein_coding|2/3|c.157+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282633.1|protein_coding|3/4|c.178+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282634.1|protein_coding|3/4|c.178+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_020548.7|protein_coding|3/4|c.178+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282635.1|protein_coding|3/4|c.178+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001282636.1|protein_coding|2/3|c.55+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NR_104221.1|pseudogene|2/3|n.534+55T>C||||||,C|intron_variant|MODIFIER|DBI|DBI|transcript|NM_001079863.1|protein_coding|2/3|c.130+55T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4354;p3_1000G_AF=0.869409;p3_1000G_AFR_AF=0.9622;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=20806;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.8549;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120125936;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,26:47:99:698,0,565
chr2	119431857	rs4599130	G	C	102.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4599130;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|TMEM37|TMEM37|transcript|NM_183240.2|protein_coding||c.-47G>C|||||13|,C|intergenic_region|MODIFIER|DBI-TMEM37|DBI-TMEM37|intergenic_region|DBI-TMEM37|||n.119431857G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=4328;p3_1000G_AF=0.864217;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=6517;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.8559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120189433;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:130,12,0
chr2	119437075	rs3217464;~rs33980232	A	AGTGTGC	2733.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=1.278;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3217464,rs76360727;dbSNPBuildID=106;ANN=AGTGTGC|disruptive_inframe_insertion|MODERATE|TMEM37|TMEM37|transcript|NM_183240.2|protein_coding|2/2|c.208_209insGTGTGC|p.Thr70delinsSerValPro|243/1687|209/573|70/190||,AGTGTGC|downstream_gene_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding||c.*3041_*3042insGCACAC|||||2767|;p3_1000G_AC=4489;p3_1000G_AF=0.896366;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=15646;p3_1000G_EAS_AF=0.8919;p3_1000G_EUR_AF=0.8748;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120194651;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.864;p3_1000G_VT=INDEL;ESP6500_AA_AC=4023,213;ESP6500_AA_GTC=1924,175,19;ESP6500_CDS_SIZES=NM_183240.2:573;ESP6500_CG=3.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=56;ESP6500_EA_AC=6958,1218;ESP6500_EA_GTC=3018,922,148;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183240.2:coding;ESP6500_GL=TMEM37;ESP6500_GRCh38_POSITION=2:119437075;ESP6500_GTC=4942,1097,167;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_183240.2:c.208_209insGTGTGC;ESP6500_HGVS_PROTEIN_VAR=NM_183240.2:p.(T70delinsSVP);ESP6500_MAF=14.8973,5.0283,11.5292;ESP6500_TAC=10981,1431	GT:AD:DP:GQ:PL	1/1:0,56:56:99:2771,189,0
chr2	119440094	rs1042656	G	A	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.234;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=1.21;SOR=0.951;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1042656;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding|13/13|c.*23C>T|||||23|,A|downstream_gene_variant|MODIFIER|TMEM37|TMEM37|transcript|NM_183240.2|protein_coding||c.*2654G>A|||||1574|;p3_1000G_AA=G|||;p3_1000G_AC=2760;p3_1000G_AF=0.551118;p3_1000G_AFR_AF=0.3699;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=19431;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.6879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120197670;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1751,2655;ESP6500_AA_AGE=520.9+/-370.4;ESP6500_AA_GTC=378,995,830;ESP6500_CDS_SIZES=NM_002980.2:1323;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=45;ESP6500_EA_AC=5916,2684;ESP6500_EA_AGE=679.7+/-403.6;ESP6500_EA_GTC=2029,1858,413;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002980.2:utr-3;ESP6500_GL=SCTR;ESP6500_GRCh38_POSITION=2:119440094;ESP6500_GTC=2407,2853,1243;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002980.2:c.*23C>T;ESP6500_MAF=31.2093,39.7413,41.0503;ESP6500_TAC=7667,5339	GT:AD:DP:GQ:PL	0/1:17,10:27:99:253,0,467
chr2	119441564	rs1126839	A	G	854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1126839;dbSNPBuildID=137;ANN=G|synonymous_variant|LOW|SCTR|SCTR|transcript|NM_002980.2|protein_coding|12/13|c.1176T>C|p.Asn392Asn|1402/1823|1176/1323|392/440||,G|downstream_gene_variant|MODIFIER|TMEM37|TMEM37|transcript|NM_183240.2|protein_coding||c.*4124A>G|||||3044|;p3_1000G_AA=G|||;p3_1000G_AC=4362;p3_1000G_AF=0.871006;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=17781;p3_1000G_EAS_AF=0.9107;p3_1000G_EUR_AF=0.8738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120199140;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3690,716;ESP6500_AA_AGE=295.6+/-283.7;ESP6500_AA_GTC=1549,592,62;ESP6500_CDS_SIZES=NM_002980.2:1323;ESP6500_CG=-2.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=73;ESP6500_EA_AC=7494,1106;ESP6500_EA_AGE=226.6+/-262.3;ESP6500_EA_GTC=3267,960,73;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002980.2:coding-synonymous;ESP6500_GL=SCTR;ESP6500_GRCh38_POSITION=2:119441564;ESP6500_GTC=4816,1552,135;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002980.2:c.1176T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002980.2:p.(N392);ESP6500_MAF=12.8605,16.2506,14.0089;ESP6500_TAC=11184,1822	GT:AD:DP:GQ:PL	1/1:0,26:26:78:883,78,0
chr2	119452113	rs2587692	A	G	1444.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.562;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2587692;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding|8/12|c.852-34T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4541;p3_1000G_AF=0.906749;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.8401;p3_1000G_AN=5008;p3_1000G_DP=21817;p3_1000G_EAS_AF=0.9167;p3_1000G_EUR_AF=0.8718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120209689;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4215,191;ESP6500_AA_AGE=112.9+/-151.0;ESP6500_AA_GTC=2017,181,5;ESP6500_CDS_SIZES=NM_002980.2:1323;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=7489,1109;ESP6500_EA_AGE=218.1+/-256.6;ESP6500_EA_GTC=3262,965,72;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002980.2:intron;ESP6500_GL=SCTR;ESP6500_GRCh38_POSITION=2:119452113;ESP6500_GTC=5279,1146,77;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002980.2:c.852-34T>C;ESP6500_MAF=12.8983,4.335,9.9969;ESP6500_TAC=11704,1300	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1473,144,0
chr2	119464009	rs2253870	G	A	105.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.668;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2253870;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding|6/12|c.636+114C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2772;p3_1000G_AF=0.553514;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=17834;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.6839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120221585;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:134,0,226
chr2	119464285	rs57757577	G	A	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.778;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=0.464;SOR=0.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57757577;dbSNPBuildID=129;ANN=A|sequence_feature|LOW|SCTR|SCTR|topological-domain:Cytoplasmic|NM_002980.2|protein_coding|5/12|c.504-30C>T||||||,A|intron_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding|5/12|c.504-30C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1183;p3_1000G_AF=0.236222;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=18208;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.166;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120221861;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=915,3491;ESP6500_AA_AGE=348.5+/-309.9;ESP6500_AA_GTC=89,737,1377;ESP6500_CDS_SIZES=NM_002980.2:1323;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=82;ESP6500_EA_AC=1302,7298;ESP6500_EA_AGE=256.9+/-281.2;ESP6500_EA_GTC=99,1104,3097;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002980.2:intron;ESP6500_GL=SCTR;ESP6500_GRCh38_POSITION=2:119464285;ESP6500_GTC=188,1841,4474;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002980.2:c.504-30C>T;ESP6500_MAF=15.1395,20.7671,17.046;ESP6500_TAC=2217,10789	GT:AD:DP:GQ:PL	0/1:16,10:26:99:221,0,427
chr2	119473325	rs2579640	C	T	637.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2579640;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding|4/12|c.405+128G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3416;p3_1000G_AF=0.682109;p3_1000G_AFR_AF=0.2829;p3_1000G_AMR_AF=0.7637;p3_1000G_AN=5008;p3_1000G_DP=17845;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.834;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120230901;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:666,54,0
chr2	119473422	rs2579641	G	A	1592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2579641;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding|4/12|c.405+31C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3951;p3_1000G_AF=0.788938;p3_1000G_AFR_AF=0.6263;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=19921;p3_1000G_EAS_AF=0.8581;p3_1000G_EUR_AF=0.8559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120230998;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2935,1471;ESP6500_AA_AGE=676.1+/-403.2;ESP6500_AA_GTC=977,981,245;ESP6500_CDS_SIZES=NM_002980.2:1323;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=7365,1235;ESP6500_EA_AGE=759.3+/-407.5;ESP6500_EA_GTC=3157,1051,92;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002980.2:intron;ESP6500_GL=SCTR;ESP6500_GRCh38_POSITION=2:119473422;ESP6500_GTC=4134,2032,337;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002980.2:c.405+31C>T;ESP6500_MAF=14.3605,33.3863,20.8058;ESP6500_TAC=10300,2706	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1621,156,0
chr2	119473589	rs2587701	T	C	2221.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=1.785;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2587701;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding|3/12|c.302-33A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3419;p3_1000G_AF=0.682708;p3_1000G_AFR_AF=0.2837;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=20166;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120231165;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1602,2804;ESP6500_AA_AGE=495.8+/-363.4;ESP6500_AA_GTC=316,970,917;ESP6500_CDS_SIZES=NM_002980.2:1323;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=69;ESP6500_EA_AC=7093,1507;ESP6500_EA_AGE=747.4+/-407.3;ESP6500_EA_GTC=2933,1227,140;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002980.2:intron;ESP6500_GL=SCTR;ESP6500_GRCh38_POSITION=2:119473589;ESP6500_GTC=3249,2197,1057;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002980.2:c.302-33A>G;ESP6500_MAF=17.5233,36.3595,33.1462;ESP6500_TAC=8695,4311	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,69:69:99:1|1:119473589_T_C:2250,207,0
chr2	119478756	rs41279776	A	C	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.93;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=1.07;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41279776;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|SCTR|SCTR|transcript|NM_002980.2|protein_coding|3/12|c.301+55T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=779;p3_1000G_AF=0.155551;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=20465;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.1491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120236332;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:187,0,386
chr2	119587297	rs6726971	T	A	29.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.95;ReadPosRankSum=0.842;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6726971;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|7/23|c.631+75T>A||||||,A|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|6/17|n.656+75T>A||||||,A|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|7/24|n.757+75T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=907;p3_1000G_AF=0.18111;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=18534;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.1789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120344873;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:58:58,0,103
chr2	119589526	rs17049543	A	G	427.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=4.863;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.955;SOR=1.598;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17049543;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|7/23|c.631+2304A>G||||||,G|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|6/17|n.656+2304A>G||||||,G|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|7/24|n.757+2304A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=908;p3_1000G_AF=0.18131;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=21564;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.1789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120347102;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,17:38:99:456,0,541
chr2	119589650	rs2001656	G	C	764.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.195;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.133;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.614;SOR=0.487;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2001656;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|7/23|c.631+2428G>C||||||,C|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|6/17|n.656+2428G>C||||||,C|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|7/24|n.757+2428G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1300;p3_1000G_AF=0.259585;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=21498;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120347226;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,29:51:99:793,0,607
chr2	119604831	rs1568540	C	T	914.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1568540;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|9/23|c.912+39C>T||||||,T|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|8/17|n.937+39C>T||||||,T|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|10/24|n.1183+39C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4465;p3_1000G_AF=0.891573;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=17056;p3_1000G_EAS_AF=0.9385;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120362407;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3391,1015;ESP6500_AA_AGE=728.6+/-410.0;ESP6500_AA_GTC=1296,799,108;ESP6500_CDS_SIZES=NM_001029996.3:1665;ESP6500_CG=-8.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=81;ESP6500_EA_AC=8215,385;ESP6500_EA_AGE=802.3+/-407.3;ESP6500_EA_GTC=3922,371,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029996.3:intron;ESP6500_GL=PCDP1;ESP6500_GRCh38_POSITION=2:119604831;ESP6500_GTC=5218,1170,115;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029996.3:c.54+39C>T;ESP6500_MAF=4.4767,23.0368,10.7643;ESP6500_TAC=11606,1400	GT:AD:DP:GQ:PL	1/1:0,30:30:90:943,90,0
chr2	119605321	rs1521914	T	A	948.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.65;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1521914;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|11/23|c.1133+32T>A||||||,A|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|10/17|n.1158+32T>A||||||,A|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|12/24|n.1404+32T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20437;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120362897;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4038,358;ESP6500_AA_AGE=161.1+/-193.3;ESP6500_AA_GTC=1849,340,9;ESP6500_CDS_SIZES=NM_001029996.3:1665;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=28;ESP6500_EA_AC=8597,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4298,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029996.3:intron;ESP6500_GL=PCDP1;ESP6500_GRCh38_POSITION=2:119605321;ESP6500_GTC=6147,341,9;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001029996.3:c.275+32T>A;ESP6500_MAF=0.0116,8.1438,2.7628;ESP6500_TAC=12635,359	GT:AD:DP:GQ:PL	1/1:0,32:32:96:977,96,0
chr2	119608481	rs11398750;rs386391028;rs386391029;rs534287943;rs5833792	G	GT	97.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.935;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=0.388;SOR=1.085;INS;HET;VARTYPE=INS;dbSNP138_ID=rs368769180,rs11398750,rs374722170,rs5833792;dbSNPBuildID=138,142,138,138,130;ANN=GT|splice_region_variant&intron_variant|LOW|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|11/23|c.1134-9dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|10/17|n.1159-9dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|12/24|n.1405-9dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,7:12:99:0|1:119608481_G_GT:135,0,118
chr2	119608493	.	T	TTC	11.08	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.428;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=3.736;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=0.296;SOR=0.086;INS;HET;VARTYPE=INS;ANN=TTC|splice_region_variant&intron_variant|LOW|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|11/23|c.1134-9_1134-8insTC||||||,TTC|splice_region_variant&intron_variant|LOW|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|10/17|n.1159-9_1159-8insTC||||||,TTC|splice_region_variant&intron_variant|LOW|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|12/24|n.1405-9_1405-8insTC||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,2:13:48:1|0:119608481_G_GT:48,0,541
chr2	119611724	rs10864986	T	C	764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.32;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10864986;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|13/24|c.1293T>C|p.Val431Val|1419/2840|1293/2523|431/840||,C|non_coding_transcript_exon_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|12/18|n.1318T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|14/25|n.1564T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4927;p3_1000G_AF=0.983826;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16083;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120369300;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4227,179;ESP6500_AA_AGE=115.9+/-153.8;ESP6500_AA_GTC=2028,171,4;ESP6500_CDS_SIZES=NM_001029996.3:1665;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=77;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029996.3:coding-synonymous;ESP6500_GL=PCDP1;ESP6500_GRCh38_POSITION=2:119611724;ESP6500_GTC=6326,173,4;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001029996.3:c.435T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001029996.3:p.(V145);ESP6500_MAF=0.0233,4.0626,1.3917;ESP6500_TAC=12825,181	GT:AD:DP:GQ:PL	1/1:0,27:27:81:793,81,0
chr2	119630061	rs12711931	G	C	231.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.04;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12711931;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|17/23|c.1731+106G>C||||||,C|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|16/17|n.1756+106G>C||||||,C|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|18/24|n.2002+106G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4951;p3_1000G_AF=0.988618;p3_1000G_AFR_AF=0.9592;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19124;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120387637;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:260,18,0
chr2	119630836	rs2272058	G	A	2866.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272058;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|19/24|c.1909G>A|p.Val637Ile|2035/2840|1909/2523|637/840||,A|non_coding_transcript_exon_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073133.1|pseudogene|18/18|n.1934G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|20/25|n.2180G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4889;p3_1000G_AF=0.976238;p3_1000G_AFR_AF=0.9198;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18561;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120388412;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4112,294;ESP6500_AA_AGE=160.3+/-192.7;ESP6500_AA_GTC=1920,272,11;ESP6500_CDS_SIZES=NM_001029996.3:1665;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=183;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001029996.3:missense;ESP6500_GL=PCDP1;ESP6500_GRCh38_POSITION=2:119630836;ESP6500_GS=29;ESP6500_GTC=6218,274,11;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001029996.3:c.1051G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001029996.3:p.(V351I);ESP6500_MAF=0.0233,6.6727,2.2759;ESP6500_PH=benign:0.0;ESP6500_TAC=12710,296	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2895,280,0
chr2	119638081	rs939770	A	G	492.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs939770;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|19/23|c.1975-178A>G||||||,G|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|20/24|n.2246-178A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4869;p3_1000G_AF=0.972244;p3_1000G_AFR_AF=0.9054;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=19163;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120395657;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:521,39,0
chr2	119647053	rs11349518;rs397985651;rs564661593	AT	A	574.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.95;SOR=1.051;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11349518;dbSNPBuildID=134,142,138;ANN=A|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|22/23|c.2318+17delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|23/24|n.2589+17delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,24:24:72:612,72,0
chr2	119656507	rs6761357	C	T	554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6761357;dbSNPBuildID=116;ANN=T|3_prime_UTR_variant|MODIFIER|CFAP221|CFAP221|transcript|NM_001271049.1|protein_coding|24/24|c.*37C>T|||||37|,T|non_coding_transcript_exon_variant|MODIFIER|CFAP221|CFAP221|transcript|NR_073132.1|pseudogene|25/25|n.2831C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2964;p3_1000G_AF=0.591853;p3_1000G_AFR_AF=0.4788;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=16141;p3_1000G_EAS_AF=0.6091;p3_1000G_EUR_AF=0.6382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120414083;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2193,2211;ESP6500_AA_AGE=567.7+/-382.2;ESP6500_AA_GTC=538,1117,547;ESP6500_CDS_SIZES=NM_001029996.3:1665;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=52;ESP6500_EA_AC=5586,3014;ESP6500_EA_AGE=444.7+/-360.8;ESP6500_EA_GTC=1827,1932,541;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001029996.3:utr-3;ESP6500_GL=PCDP1;ESP6500_GRCh38_POSITION=2:119656507;ESP6500_GTC=2365,3049,1088;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001029996.3:c.*37C>T;ESP6500_MAF=35.0465,49.7956,40.1799;ESP6500_TAC=7779,5225	GT:AD:DP:GQ:PL	1/1:0,20:20:60:583,60,0
chr2	119680947	rs13011768	A	G	2554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13011768;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|TMEM177|TMEM177|transcript|NM_001105198.1|protein_coding|2/2|c.94A>G|p.Ile32Val|567/1738|94/936|32/311||,G|missense_variant|MODERATE|TMEM177|TMEM177|transcript|NM_001105199.1|protein_coding|2/2|c.94A>G|p.Ile32Val|175/1346|94/936|32/311||,G|missense_variant|MODERATE|TMEM177|TMEM177|transcript|NM_030577.2|protein_coding|2/2|c.94A>G|p.Ile32Val|226/1397|94/936|32/311||;p3_1000G_AA=A|||;p3_1000G_AC=3897;p3_1000G_AF=0.778155;p3_1000G_AFR_AF=0.6029;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=18060;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.8439;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120438523;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8599;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2774,1632;ESP6500_AA_AGE=662.3+/-401.0;ESP6500_AA_GTC=862,1050,291;ESP6500_CDS_SIZES=NM_030577.2:936,NM_001105199.1:936,NM_001105198.1:936;ESP6500_CG=1.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=75;ESP6500_EA_AC=7260,1340;ESP6500_EA_AGE=756.6+/-407.5;ESP6500_EA_GTC=3073,1114,113;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030577.2:missense,NM_001105199.1:missense,NM_001105198.1:missense;ESP6500_GL=TMEM177;ESP6500_GRCh38_POSITION=2:119680947;ESP6500_GS=29,29,29;ESP6500_GTC=3935,2164,404;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_030577.2:c.94A>G,NM_001105199.1:c.94A>G,NM_001105198.1:c.94A>G;ESP6500_HGVS_PROTEIN_VAR=NM_030577.2:p.(I32V),NM_001105199.1:p.(I32V),NM_001105198.1:p.(I32V);ESP6500_MAF=15.5814,37.0404,22.851;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=10034,2972	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2583,227,0
chr2	119681120	rs939777	A	G	3077.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=1.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs939777;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|TMEM177|TMEM177|transcript|NM_001105198.1|protein_coding|2/2|c.267A>G|p.Gln89Gln|740/1738|267/936|89/311||,G|synonymous_variant|LOW|TMEM177|TMEM177|transcript|NM_001105199.1|protein_coding|2/2|c.267A>G|p.Gln89Gln|348/1346|267/936|89/311||,G|synonymous_variant|LOW|TMEM177|TMEM177|transcript|NM_030577.2|protein_coding|2/2|c.267A>G|p.Gln89Gln|399/1397|267/936|89/311||;p3_1000G_AA=G|||;p3_1000G_AC=4910;p3_1000G_AF=0.980431;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=19866;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120438696;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4125,281;ESP6500_AA_AGE=155.5+/-188.7;ESP6500_AA_GTC=1929,267,7;ESP6500_CDS_SIZES=NM_030577.2:936,NM_001105199.1:936,NM_001105198.1:936;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=189;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030577.2:coding-synonymous,NM_001105199.1:coding-synonymous,NM_001105198.1:coding-synonymous;ESP6500_GL=TMEM177;ESP6500_GRCh38_POSITION=2:119681120;ESP6500_GTC=6229,267,7;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_030577.2:c.267A>G,NM_001105199.1:c.267A>G,NM_001105198.1:c.267A>G;ESP6500_HGVS_PROTEIN_VAR=NM_030577.2:p.(Q89),NM_001105199.1:p.(Q89),NM_001105198.1:p.(Q89);ESP6500_MAF=0.0,6.3777,2.1605;ESP6500_TAC=12725,281	GT:AD:DP:GQ:PL	1/1:0,91:91:99:3106,273,0
chr2	119681654	rs1983406	C	G	1982.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=1.392;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1983406;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|TMEM177|TMEM177|transcript|NM_001105198.1|protein_coding|2/2|c.801C>G|p.Asp267Glu|1274/1738|801/936|267/311||,G|missense_variant|MODERATE|TMEM177|TMEM177|transcript|NM_001105199.1|protein_coding|2/2|c.801C>G|p.Asp267Glu|882/1346|801/936|267/311||,G|missense_variant|MODERATE|TMEM177|TMEM177|transcript|NM_030577.2|protein_coding|2/2|c.801C>G|p.Asp267Glu|933/1397|801/936|267/311||;p3_1000G_AA=G|||;p3_1000G_AC=3897;p3_1000G_AF=0.778155;p3_1000G_AFR_AF=0.6029;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=18762;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.8439;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120439230;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8599;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2772,1634;ESP6500_AA_AGE=490.1+/-361.7;ESP6500_AA_GTC=862,1048,293;ESP6500_CDS_SIZES=NM_030577.2:936,NM_001105199.1:936,NM_001105198.1:936;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=57;ESP6500_EA_AC=7257,1343;ESP6500_EA_AGE=258.3+/-282.0;ESP6500_EA_GTC=3071,1115,114;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030577.2:missense,NM_001105199.1:missense,NM_001105198.1:missense;ESP6500_GL=TMEM177;ESP6500_GRCh38_POSITION=2:119681654;ESP6500_GS=45,45,45;ESP6500_GTC=3933,2163,407;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_030577.2:c.801C>G,NM_001105199.1:c.801C>G,NM_001105198.1:c.801C>G;ESP6500_HGVS_PROTEIN_VAR=NM_030577.2:p.(D267E),NM_001105199.1:p.(D267E),NM_001105198.1:p.(D267E);ESP6500_MAF=15.6163,37.0858,22.8894;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10029,2977	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2011,183,0
chr2	119862516	rs778939222	A	AT	12.01	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.273;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.616;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=-0.771;SOR=0.382;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=AT|splice_region_variant&intron_variant|LOW|PTPN4|PTPN4|transcript|NM_002830.3|protein_coding|2/26|c.139-5dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:30,8:38:49:49,0,598
chr2	119932329	rs2292361	A	G	125.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292361;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PTPN4|PTPN4|transcript|NM_002830.3|protein_coding|13/26|c.1071-95A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2890;p3_1000G_AF=0.577077;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=18669;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.6879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120689905;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:154,15,0
chr2	119946588	rs3214717;rs398104663;~rs67176682	A	AT	867.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.69;SOR=0.99;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3214717;dbSNPBuildID=106,138;ANN=AT|intron_variant|MODIFIER|PTPN4|PTPN4|transcript|NM_002830.3|protein_coding|18/26|c.1656+15dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=3043;p3_1000G_AF=0.607628;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=15476;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.6948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120704164;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=INDEL;ESP6500_AA_AC=1729,26,2507;ESP6500_AA_GTC=365,21,978,0,5,762;ESP6500_CDS_SIZES=NM_002830.3:2781,NM_002830.3:2781;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=68;ESP6500_EA_AC=5593,118,2531;ESP6500_EA_GTC=1875,107,1736,1,9,393;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002830.3:intron,NM_002830.3:intron;ESP6500_GL=PTPN4;ESP6500_GRCh38_POSITION=2:119946588;ESP6500_GTC=2240,128,2714,1,14,1155;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_002830.3:c.1656+14_1656+15insTT,NM_002830.3:c.1656+14_1656+15insT;ESP6500_MAF=32.1403,41.1779,41.4427;ESP6500_TAC=7322,144,5038	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,21:21:63:1|1:119946588_A_AT:905,63,0
chr2	119946590	rs2289580	G	T	876.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs68099347,rs2289580;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PTPN4|PTPN4|transcript|NM_002830.3|protein_coding|18/26|c.1656+16G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3053;p3_1000G_AF=0.609625;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=14861;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.6948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120704166;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:63:1|1:119946588_A_AT:905,63,0
chr2	119960746	rs12618050	A	G	543.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12618050;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PTPN4|PTPN4|transcript|NM_002830.3|protein_coding|22/26|c.2134-61A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2900;p3_1000G_AF=0.579073;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=18585;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.6889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120718322;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:572,42,0
chr2	120019396	rs3216703;rs575688539	TG	T	644.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.22;SOR=3.383;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3216703;dbSNPBuildID=106;ANN=T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_020909.3|protein_coding|2/24|c.180+133delG||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184939.1|protein_coding|2/16|c.180+133delG||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NR_135920.1|pseudogene|2/17|n.371+133delG||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184937.1|protein_coding|2/23|c.180+133delG||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184938.2|protein_coding|2/16|c.180+133delG||||||;p3_1000G_AC=3119;p3_1000G_AF=0.622804;p3_1000G_AFR_AF=0.4002;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=22025;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.7952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120776972;p3_1000G_GRCH37_REF=TG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:51:682,51,0
chr2	120073239	rs3738970	A	G	732.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738970;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_020909.3|protein_coding|4/24|c.328+19A>G||||||,G|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184939.1|protein_coding|4/16|c.328+19A>G||||||,G|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NR_135920.1|pseudogene|4/17|n.519+19A>G||||||,G|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184937.1|protein_coding|4/23|c.328+19A>G||||||,G|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184938.2|protein_coding|4/16|c.328+19A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3124;p3_1000G_AF=0.623802;p3_1000G_AFR_AF=0.4024;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=16917;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.7952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120830815;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2104,2302;ESP6500_AA_AGE=570.5+/-382.9;ESP6500_AA_GTC=514,1076,613;ESP6500_CDS_SIZES=NM_020909.3:2202,NM_001184939.1:1518,NM_001184938.1:1518,NM_001184937.1:2064;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=81;ESP6500_EA_AC=6794,1804;ESP6500_EA_AGE=729.9+/-406.7;ESP6500_EA_GTC=2691,1412,196;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020909.3:intron,NM_001184939.1:intron,NM_001184938.1:intron,NM_001184937.1:intron;ESP6500_GL=EPB41L5;ESP6500_GRCh38_POSITION=2:120073239;ESP6500_GTC=3205,2488,809;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020909.3:c.328+19A>G,NM_001184939.1:c.328+19A>G,NM_001184938.1:c.328+19A>G,NM_001184937.1:c.328+19A>G;ESP6500_MAF=20.9816,47.7531,31.5749;ESP6500_TAC=8898,4106	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:120073239_A_G:761,69,0
chr2	120093434	rs1599893	G	T	560.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1599893;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_020909.3|protein_coding|14/24|c.1178+158G>T||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184939.1|protein_coding|14/16|c.1178+158G>T||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NR_135920.1|pseudogene|14/17|n.1369+158G>T||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184937.1|protein_coding|14/23|c.1178+158G>T||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184938.2|protein_coding|14/16|c.1178+158G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4965;p3_1000G_AF=0.991414;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20028;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120851010;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:589,45,0
chr2	120100167	.	G	T	21.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.619;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_020909.3|protein_coding|14/24|c.1179-77G>T||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184939.1|protein_coding|14/16|c.1179-77G>T||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NR_135920.1|pseudogene|14/17|n.1370-77G>T||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184937.1|protein_coding|14/23|c.1179-77G>T||||||,T|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184938.2|protein_coding|14/16|c.1179-77G>T||||||	GT:AD:DP:GQ:PL	0/1:6,2:8:50:50,0,192
chr2	120127734	rs1034489	G	A	1204.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=1.236;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1034489;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|EPB41L5|EPB41L5|transcript|NM_020909.3|protein_coding|17/25|c.1384G>A|p.Ala462Thr|1575/6607|1384/2202|462/733||,A|missense_variant|MODERATE|EPB41L5|EPB41L5|transcript|NM_001184937.1|protein_coding|17/24|c.1384G>A|p.Ala462Thr|1575/6476|1384/2064|462/687||;p3_1000G_AA=A|||;p3_1000G_AC=2958;p3_1000G_AF=0.590655;p3_1000G_AFR_AF=0.3759;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=16393;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.7266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120885310;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1962,2444;ESP6500_AA_AGE=621.0+/-393.7;ESP6500_AA_GTC=447,1068,688;ESP6500_CDS_SIZES=NM_020909.3:2202,NM_001184937.1:2064;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=156;ESP6500_EA_AC=6207,2393;ESP6500_EA_AGE=396.9+/-345.6;ESP6500_EA_GTC=2242,1723,335;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020909.3:missense,NM_001184937.1:missense;ESP6500_GL=EPB41L5;ESP6500_GRCh38_POSITION=2:120127734;ESP6500_GS=58,58;ESP6500_GTC=2689,2791,1023;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020909.3:c.1384G>A,NM_001184937.1:c.1384G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020909.3:p.(A462T),NM_001184937.1:p.(A462T);ESP6500_MAF=27.8256,44.5302,37.1905;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8169,4837	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1233,117,0
chr2	120131597	rs3738968	G	C	526.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.15;QD=29.26;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738968;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_020909.3|protein_coding|17/24|c.1502-21G>C||||||,C|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184937.1|protein_coding|17/23|c.1502-21G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2959;p3_1000G_AF=0.590855;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=18335;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.7266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120889173;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:555,54,0
chr2	120161009	rs12617570	A	C	582.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12617570;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_020909.3|protein_coding|21/24|c.1887+35A>C||||||,C|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184937.1|protein_coding|21/23|c.1887+35A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2967;p3_1000G_AF=0.592452;p3_1000G_AFR_AF=0.3782;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=19391;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.7266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120918585;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1965,2441;ESP6500_AA_AGE=532.6+/-373.5;ESP6500_AA_GTC=451,1063,689;ESP6500_CDS_SIZES=NM_020909.3:2202,NM_001184937.1:2064;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=6206,2394;ESP6500_EA_AGE=690.8+/-404.5;ESP6500_EA_GTC=2242,1722,336;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020909.3:intron,NM_001184937.1:intron;ESP6500_GL=EPB41L5;ESP6500_GRCh38_POSITION=2:120161009;ESP6500_GTC=2693,2785,1025;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_020909.3:c.1887+35A>C,NM_001184937.1:c.1887+35A>C;ESP6500_MAF=27.8372,44.5983,37.1751;ESP6500_TAC=8171,4835	GT:AD:DP:GQ:PL	1/1:0,16:16:48:611,48,0
chr2	120174734	.	T	C	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.08;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=0.14;SOR=1.127;SNP;HET;VARTYPE=SNP;ANN=C|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_020909.3|protein_coding|24/24|c.2136-107T>C||||||,C|intron_variant|MODIFIER|EPB41L5|EPB41L5|transcript|NM_001184937.1|protein_coding|23/23|c.2005-107T>C||||||	GT:AD:DP:GQ:PL	0/1:10,14:24:99:451,0,272
chr2	120222852	rs11550347	G	C	576.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.248;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=7.2;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.246;SOR=1.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11550347;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|TMEM185B|TMEM185B|transcript|NM_024121.2|protein_coding|1/1|c.125C>G|p.Ala42Gly|557/5938|125/1053|42/350||;p3_1000G_AA=G|||;p3_1000G_AC=2843;p3_1000G_AF=0.567692;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=15003;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120980428;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,19:42:99:605,0,738
chr2	120240293	rs6746072	A	T	52.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6746072;dbSNPBuildID=116;ANN=T|intergenic_region|MODIFIER|TMEM185B-RALB|TMEM185B-RALB|intergenic_region|TMEM185B-RALB|||n.120240293A>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=3447;p3_1000G_AF=0.688299;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=14918;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=120997869;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:80,9,0
chr2	120278809	rs12711939;rs62168280	T	G	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=0.118;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12711939;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|RALB|RALB|transcript|NM_002881.2|protein_coding|2/4|c.114+31T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=3165;p3_1000G_AF=0.631989;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=19886;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.7078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121036385;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA_AC=3390,1016;ESP6500_AA_GTC=1334,722,147;ESP6500_CDS_SIZES=NM_002881.2:621;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=52;ESP6500_EA_AC=6005,2595;ESP6500_EA_GTC=2204,1597,499;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002881.2:intron;ESP6500_GL=RALB;ESP6500_GRCh38_POSITION=2:120278809;ESP6500_GTC=3538,2319,646;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_002881.2:c.114+31T>G;ESP6500_MAF=30.1744,23.0595,27.7641;ESP6500_TAC=9395,3611	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,14:27:99:0|1:120278809_T_G:523,0,847
chr2	120278810	rs12711940	T	A	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.845;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=0.118;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12711940;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|RALB|RALB|transcript|NM_002881.2|protein_coding|2/4|c.114+32T>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=3165;p3_1000G_AF=0.631989;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=19917;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.7078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121036386;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA_AC=3389,1017;ESP6500_AA_GTC=1334,721,148;ESP6500_CDS_SIZES=NM_002881.2:621;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=52;ESP6500_EA_AC=6006,2594;ESP6500_EA_GTC=2203,1600,497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002881.2:intron;ESP6500_GL=RALB;ESP6500_GRCh38_POSITION=2:120278810;ESP6500_GTC=3537,2321,645;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_002881.2:c.114+32T>A;ESP6500_MAF=30.1628,23.0822,27.7641;ESP6500_TAC=9395,3611	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,14:27:99:0|1:120278809_T_G:523,0,847
chr2	120285827	rs4091515	G	A	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.075;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.67;ReadPosRankSum=-1.043;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4091515;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|RALB|RALB|transcript|NM_002881.2|protein_coding|2/4|c.115-47G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3167;p3_1000G_AF=0.632388;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18947;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.7078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121043403;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6247;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3445,959;ESP6500_AA_GTC=1345,755,102;ESP6500_CDS_SIZES=NM_002881.2:621;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=29;ESP6500_EA_AC=6113,2487;ESP6500_EA_GTC=2208,1697,395;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002881.2:intron;ESP6500_GL=RALB;ESP6500_GRCh38_POSITION=2:120285827;ESP6500_GTC=3553,2452,497;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002881.2:c.115-47G>A;ESP6500_MAF=28.9186,21.7757,26.4995;ESP6500_TAC=9558,3446	GT:AD:DP:GQ:PL	0/1:19,6:25:99:120,0,708
chr2	120290632	rs34133052	C	CTT	144.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.159;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-1.075;SOR=0.586;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10689382,rs34133052;dbSNPBuildID=137;ANN=CTT|intron_variant|MODIFIER|RALB|RALB|transcript|NM_002881.2|protein_coding|4/4|c.501+886_501+887dupTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,5:15:99:182,0,311
chr2	120291136	rs17050072	T	C	329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.958;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.504;SOR=1.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17050072;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|RALB|RALB|transcript|NM_002881.2|protein_coding|4/4|c.501+1379T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3167;p3_1000G_AF=0.632388;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18502;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.7078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121048712;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6247;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,12:24:99:358,0,350
chr2	120797659	rs78905384	G	GCCA	277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.96;SOR=2.584;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs78905384;dbSNPBuildID=131;ANN=GCCA|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|1/12|c.148+194_148+196dupACC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2190;p3_1000G_AF=0.4373;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=13458;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.4732;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121555235;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:315,21,0
chr2	120951515	rs11681136;439758	G	A	545.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11681136;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|3/12|c.457+70G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4701;p3_1000G_AF=0.938698;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=17324;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121709091;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9663;p3_1000G_VT=SNP;CLINVAR_ALLELEID=433591;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120951515G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:66966;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11681136	GT:AD:DP:GQ:PL	1/1:0,17:17:51:574,51,0
chr2	120955446	rs6718382;259731	C	G	1957.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.83;SOR=1.659;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6718382;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|4/12|c.643+16C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15834;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121713022;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;CLINVAR_ALLELEID=250113;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120955446C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6718382	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,47:47:99:1|1:120955446_C_G:1986,144,0
chr2	120955454	rs12614482;259732	G	A	1794.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.24;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12614482;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|4/12|c.643+24G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3936;p3_1000G_AF=0.785942;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=15804;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121713030;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1690,2702;ESP6500_AA_GTC=357,976,863;ESP6500_CDS_SIZES=NM_005270.4:4761;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=10;ESP6500_EA_AC=8076,482;ESP6500_EA_GTC=3821,434,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005270.4:intron;ESP6500_GL=GLI2;ESP6500_GRCh38_POSITION=2:120955454;ESP6500_GTC=4178,1410,887;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005270.4:c.643+24G>A;ESP6500_MAF=5.6322,38.4791,24.5869;ESP6500_TAC=9766,3184;CLINVAR_ALLELEID=250114;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120955454G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12614482	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:120955446_C_G:1823,126,0
chr2	120955465	rs12617878;259733	T	C	1455.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.28;SOR=3.145;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12617878;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|4/12|c.643+35T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3936;p3_1000G_AF=0.785942;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=15693;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121713041;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1710,2670;ESP6500_AA_GTC=366,978,846;ESP6500_CDS_SIZES=NM_005270.4:4761;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=9;ESP6500_EA_AC=8047,483;ESP6500_EA_GTC=3806,435,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005270.4:intron;ESP6500_GL=GLI2;ESP6500_GRCh38_POSITION=2:120955465;ESP6500_GTC=4172,1413,870;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005270.4:c.643+35T>C;ESP6500_MAF=5.6624,39.0411,24.4229;ESP6500_TAC=9757,3153;CLINVAR_ALLELEID=250115;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120955465T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12617878	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1484,114,0
chr2	120968871	rs2592595;259736	G	A	1931.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=1.033;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2592595;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|GLI2|GLI2|transcript|NM_005270.4|protein_coding|5/13|c.801G>A|p.Ser267Ser|831/6769|801/4761|267/1586||;p3_1000G_AA=G|||;p3_1000G_AC=4143;p3_1000G_AF=0.827276;p3_1000G_AFR_AF=0.407;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=13109;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121726447;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2064,2342;ESP6500_AA_AGE=565.2+/-381.6;ESP6500_AA_GTC=503,1058,642;ESP6500_CDS_SIZES=NM_005270.4:4761;ESP6500_CG=-9.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=53;ESP6500_EA_AC=8461,139;ESP6500_EA_AGE=810.5+/-407.1;ESP6500_EA_GTC=4162,137,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005270.4:coding-synonymous;ESP6500_GL=GLI2;ESP6500_GRCh38_POSITION=2:120968871;ESP6500_GTC=4665,1195,643;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005270.4:c.801G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005270.4:p.(S267);ESP6500_MAF=1.6163,46.8452,19.0758;ESP6500_TAC=10525,2481;CLINVAR_ALLELEID=250118;CLINVAR_CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:CN169374;CLINVAR_CLNDN=Holoprosencephaly_sequence|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120968871G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560233;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2592595	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1960,198,0
chr2	120971914	rs2592591;259709	C	T	1624.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.01;SOR=1.199;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2592591;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|6/12|c.1060-27C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.9481;p3_1000G_AN=5008;p3_1000G_DP=18792;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121729490;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2842,1564;ESP6500_AA_AGE=665.6+/-401.6;ESP6500_AA_GTC=923,996,284;ESP6500_CDS_SIZES=NM_005270.4:4761;ESP6500_CG=0.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=8466,134;ESP6500_EA_AGE=812.3+/-407.1;ESP6500_EA_GTC=4167,132,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005270.4:intron;ESP6500_GL=GLI2;ESP6500_GRCh38_POSITION=2:120971914;ESP6500_GTC=5090,1128,285;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005270.4:c.1060-27C>T;ESP6500_MAF=1.5581,35.497,13.0555;ESP6500_TAC=11308,1698;CLINVAR_ALLELEID=250121;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120971914C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2592591	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1653,167,0
chr2	120972110	rs2592590;259710	T	C	1333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2592590;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|7/12|c.1182+47T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4392;p3_1000G_AF=0.876997;p3_1000G_AFR_AF=0.5877;p3_1000G_AMR_AF=0.9481;p3_1000G_AN=5008;p3_1000G_DP=17741;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121729686;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2847,1557;ESP6500_AA_GTC=931,985,286;ESP6500_CDS_SIZES=NM_005270.4:4761;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=19;ESP6500_EA_AC=8458,136;ESP6500_EA_GTC=4162,134,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005270.4:intron;ESP6500_GL=GLI2;ESP6500_GRCh38_POSITION=2:120972110;ESP6500_GTC=5093,1119,287;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005270.4:c.1182+47T>C;ESP6500_MAF=1.5825,35.3542,13.0251;ESP6500_TAC=11305,1693;CLINVAR_ALLELEID=250122;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120972110T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2592590	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1362,120,0
chr2	120974779	rs3043526;rs397985672;rs529366733;rs71740593	AGT	A	1359.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.502;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=3.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=0.573;SOR=0.283;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3043526,rs71740593;dbSNPBuildID=102,142,137,138;ANN=A|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|7/12|c.1183-122_1183-121delGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1397,0,1049
chr2	120982916	rs117209625;259715	G	A	573.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.495;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.054;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.21;SOR=0.452;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117209625;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|10/12|c.1683+36G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=33;p3_1000G_AF=0.00658946;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16556;p3_1000G_EAS_AF=0.0327;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121740492;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00244;CLINVAR_AF_TGP=0.0066;CLINVAR_ALLELEID=250126;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120982916G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=117209625	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,27:54:99:0|1:120982916_G_A:602,0,616
chr2	120982929	rs280196;259717	C	T	1769.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=1.157;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs280196;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|GLI2|GLI2|transcript|NM_005270.4|protein_coding|10/12|c.1683+49C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3905;p3_1000G_AF=0.779752;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=15814;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121740505;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9387;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1848,2558;ESP6500_AA_AGE=521.5+/-370.6;ESP6500_AA_GTC=393,1062,748;ESP6500_CDS_SIZES=NM_005270.4:4761;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=30;ESP6500_EA_AC=8190,410;ESP6500_EA_AGE=777.4+/-407.7;ESP6500_EA_GTC=3902,386,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005270.4:intron;ESP6500_GL=GLI2;ESP6500_GRCh38_POSITION=2:120982929;ESP6500_GTC=4295,1448,760;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005270.4:c.1683+49C>T;ESP6500_MAF=4.7674,41.9428,22.8202;ESP6500_TAC=10038,2968;CLINVAR_ALLELEID=250128;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.120982929C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=280196	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,50:50:99:1|1:120982916_G_A:1798,149,0
chr2	120984728	rs565184396;330974	G	A	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.77;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.635;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.39;SOR=0.352;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|synonymous_variant|LOW|GLI2|GLI2|transcript|NM_005270.4|protein_coding|11/13|c.1941G>A|p.Lys647Lys|1971/6769|1941/4761|647/1586||;p3_1000G_AA=G|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16486;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121742304;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00002;CLINVAR_AF_TGP=0.0004;CLINVAR_ALLELEID=281730;CLINVAR_CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001;CLINVAR_CLNDN=Holoprosencephaly_sequence;CLINVAR_CLNHGVS=NC_000002.12:g.120984728G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:800498;CLINVAR_GENEINFO=GLI2:2736;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=565184396	GT:AD:DP:GQ:PL	0/1:25,21:46:99:523,0,670
chr2	121224374	rs11890430	A	G	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.182;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=0.699;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11890430;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|TFCP2L1|TFCP2L1|transcript|NM_014553.2|protein_coding|15/15|c.1407T>C|p.Asp469Asp|1500/9286|1407/1440|469/479||;p3_1000G_AA=G|||;p3_1000G_AC=1822;p3_1000G_AF=0.363818;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=21888;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.3101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121981950;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1816,2590;ESP6500_AA_AGE=638.1+/-396.9;ESP6500_AA_GTC=381,1054,768;ESP6500_CDS_SIZES=NM_014553.2:1440;ESP6500_CG=-4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=2531,6069;ESP6500_EA_AGE=692.0+/-404.6;ESP6500_EA_GTC=370,1791,2139;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014553.2:coding-synonymous;ESP6500_GL=TFCP2L1;ESP6500_GRCh38_POSITION=2:121224374;ESP6500_GTC=751,2845,2907;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014553.2:c.1407T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014553.2:p.(D469);ESP6500_MAF=29.4302,41.2165,33.423;ESP6500_TAC=4347,8659	GT:AD:DP:GQ:PL	0/1:23,10:33:99:228,0,664
chr2	121224435	rs4384798	T	A	526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.766;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.176;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=-1.145;SOR=0.812;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4384798;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TFCP2L1|TFCP2L1|transcript|NM_014553.2|protein_coding|14/14|c.1394-48A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1651;p3_1000G_AF=0.329673;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=22198;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.502;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121982011;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=759,3647;ESP6500_AA_AGE=303.0+/-287.7;ESP6500_AA_GTC=75,609,1519;ESP6500_CDS_SIZES=NM_014553.2:1440;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=53;ESP6500_EA_AC=4600,3998;ESP6500_EA_AGE=584.3+/-391.7;ESP6500_EA_GTC=1244,2112,943;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014553.2:intron;ESP6500_GL=TFCP2L1;ESP6500_GRCh38_POSITION=2:121224435;ESP6500_GTC=1319,2721,2462;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_014553.2:c.1394-48A>T;ESP6500_MAF=46.4992,17.2265,41.2104;ESP6500_TAC=5359,7645	GT:AD:DP:GQ:PL	0/1:12,21:33:99:555,0,268
chr2	121231913	rs2304667	G	A	719.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.359;SOR=0.633;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304667;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TFCP2L1|TFCP2L1|transcript|NM_014553.2|protein_coding|13/15|c.1254C>T|p.Ile418Ile|1347/9286|1254/1440|418/479||;p3_1000G_AA=G|||;p3_1000G_AC=1602;p3_1000G_AF=0.319888;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=17834;p3_1000G_EAS_AF=0.3472;p3_1000G_EUR_AF=0.504;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=121989489;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=623,3783;ESP6500_AA_AGE=269.8+/-269.2;ESP6500_AA_GTC=47,529,1627;ESP6500_CDS_SIZES=NM_014553.2:1440;ESP6500_CG=-4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=181;ESP6500_EA_AC=4587,4013;ESP6500_EA_AGE=596.9+/-393.7;ESP6500_EA_GTC=1235,2117,948;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014553.2:coding-synonymous;ESP6500_GL=TFCP2L1;ESP6500_GRCh38_POSITION=2:121231913;ESP6500_GTC=1282,2646,2575;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014553.2:c.1254C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014553.2:p.(I418);ESP6500_MAF=46.6628,14.1398,40.0584;ESP6500_TAC=5210,7796	GT:AD:DP:GQ:PL	0/1:21,30:51:99:748,0,484
chr2	121247020	rs2252862	C	G	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.866;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=8.502;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.987;SOR=2.808;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2252862;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TFCP2L1|TFCP2L1|transcript|NM_014553.2|protein_coding|5/14|c.505-50G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3151;p3_1000G_AF=0.629193;p3_1000G_AFR_AF=0.8971;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=18099;p3_1000G_EAS_AF=0.6478;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=122004596;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5992;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3585,821;ESP6500_AA_GTC=1475,635,93;ESP6500_CDS_SIZES=NM_014553.2:1440;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=3161,5439;ESP6500_EA_GTC=621,1919,1760;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014553.2:intron;ESP6500_GL=TFCP2L1;ESP6500_GRCh38_POSITION=2:121247020;ESP6500_GTC=2096,2554,1853;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014553.2:c.505-50G>C;ESP6500_MAF=36.7558,18.6337,48.1316;ESP6500_TAC=6746,6260	GT:AD:DP:GQ:PL	0/1:22,14:36:99:482,0,757
chr2	121248352	rs1530124	C	T	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.26;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=0.552;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1530124;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|TFCP2L1|TFCP2L1|transcript|NM_014553.2|protein_coding|4/14|c.398-82G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1282;p3_1000G_AF=0.25599;p3_1000G_AFR_AF=0.2685;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=19935;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=122005928;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:189,0,134
chr2	121249557	rs373899068	C	T	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.398;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.496;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373899068;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|TFCP2L1|TFCP2L1|transcript|NM_014553.2|protein_coding|3/14|c.291+14G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18115;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=122007133;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,12:29:99:283,0,494
chr2	121281207	rs36096257	G	A	555.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.182;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=10.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.32;SOR=0.561;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36096257;dbSNPBuildID=126;ANN=A|missense_variant|MODERATE|TFCP2L1|TFCP2L1|transcript|NM_014553.2|protein_coding|2/15|c.127C>T|p.Arg43Cys|220/9286|127/1440|43/479||;p3_1000G_AA=G|||;p3_1000G_AC=68;p3_1000G_AF=0.0135783;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15529;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=122038783;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=5,4401;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,5,2198;ESP6500_CDS_SIZES=NM_014553.2:1440;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=93;ESP6500_EA_AC=35,8565;ESP6500_EA_AGE=24.6+/-71.5;ESP6500_EA_GTC=0,35,4265;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014553.2:missense;ESP6500_GL=TFCP2L1;ESP6500_GRCh38_POSITION=2:121281207;ESP6500_GS=180;ESP6500_GTC=0,40,6463;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014553.2:c.127C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014553.2:p.(R43C);ESP6500_MAF=0.407,0.1135,0.3076;ESP6500_PH=possibly-damaging:0.919;ESP6500_TAC=40,12966	GT:AD:DP:GQ:PL	0/1:13,23:36:99:584,0,294
chr2	121285174	rs13415738	A	T	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.949;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.352;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13415738;dbSNPBuildID=121;ANN=T|5_prime_UTR_variant|MODIFIER|TFCP2L1|TFCP2L1|transcript|NM_014553.2|protein_coding|1/15|c.-65T>A|||||65|;p3_1000G_AA=t|||;p3_1000G_AC=2392;p3_1000G_AF=0.477636;p3_1000G_AFR_AF=0.4864;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=8428;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.3797;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=122042750;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP;ESP6500_AA_AC=679,699;ESP6500_AA_GTC=185,309,195;ESP6500_CDS_SIZES=NM_014553.2:1440;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=12;ESP6500_EA_AC=1265,1895;ESP6500_EA_GTC=283,699,598;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014553.2:utr-5;ESP6500_GL=TFCP2L1;ESP6500_GRCh38_POSITION=2:121285174;ESP6500_GTC=468,1008,793;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_014553.2:c.-65T>A;ESP6500_MAF=40.0316,49.2743,42.8383;ESP6500_TAC=1944,2594	GT:AD:DP:GQ:PL	0/1:4,9:13:84:199,0,84
chr2	121367797	rs144957722	G	T	415.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.357;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.565;SOR=1.31;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144957722;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|CLASP1|CLASP1|transcript|NM_015282.2|protein_coding|34/39|c.3677C>A|p.Thr1226Asn|4067/8092|3677/4617|1226/1538||,T|missense_variant|MODERATE|CLASP1|CLASP1|transcript|NM_001142273.1|protein_coding|34/39|c.3500C>A|p.Thr1167Asn|3890/7915|3500/4440|1167/1479||,T|missense_variant|MODERATE|CLASP1|CLASP1|transcript|NM_001142274.1|protein_coding|33/38|c.3476C>A|p.Thr1159Asn|3866/7891|3476/4416|1159/1471||,T|missense_variant|MODERATE|CLASP1|CLASP1|transcript|NM_001207051.1|protein_coding|33/38|c.3494C>A|p.Thr1165Asn|3884/7909|3494/4434|1165/1477||;p3_1000G_AA=G|||;p3_1000G_AC=52;p3_1000G_AF=0.0103834;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=16755;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=122125373;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3,3907;ESP6500_AA_GTC=0,3,1952;ESP6500_CDS_SIZES=NM_015282.2:4617,NM_001207051.1:4434,NM_001142274.1:4416,NM_001142273.1:4440;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=56;ESP6500_EA_AC=2,8290;ESP6500_EA_GTC=0,2,4144;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015282.2:missense,NM_001207051.1:missense,NM_001142274.1:missense,NM_001142273.1:missense;ESP6500_GL=CLASP1;ESP6500_GRCh38_POSITION=2:121367797;ESP6500_GS=65,65,65,65;ESP6500_GTC=0,5,6096;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015282.2:c.3677C>A,NM_001207051.1:c.3494C>A,NM_001142274.1:c.3476C>A,NM_001142273.1:c.3500C>A;ESP6500_HGVS_PROTEIN_VAR=NM_015282.2:p.(T1226N),NM_001207051.1:p.(T1165N),NM_001142274.1:p.(T1159N),NM_001142273.1:p.(T1167N);ESP6500_MAF=0.0241,0.0767,0.041;ESP6500_PH=benign:0.148,benign:0.148,benign:0.148,benign:0.148;ESP6500_TAC=5,12197	GT:AD:DP:GQ:PL	0/1:13,17:30:99:444,0,392
chr2	121407424	rs116866040	C	T	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.682;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.651;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116866040;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|CLASP1|CLASP1|transcript|NM_015282.2|protein_coding|25/38|c.2669+47G>A||||||,T|intron_variant|MODIFIER|CLASP1|CLASP1|transcript|NM_001142273.1|protein_coding|26/38|c.2609+47G>A||||||,T|intron_variant|MODIFIER|CLASP1|CLASP1|transcript|NM_001142274.1|protein_coding|25/37|c.2585+47G>A||||||,T|intron_variant|MODIFIER|CLASP1|CLASP1|transcript|NM_001207051.1|protein_coding|25/37|c.2603+47G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=27;p3_1000G_AF=0.00539137;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18592;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=122165000;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,16:32:99:453,0,462
chr2	124434491	rs1425745	T	C	2505.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=2.211;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1425745;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|CNTNAP5|CNTNAP5|transcript|NM_130773.3|protein_coding|5/24|c.537T>C|p.Asp179Asp|901/5374|537/3921|179/1306||;p3_1000G_AA=C|||;p3_1000G_AC=4128;p3_1000G_AF=0.824281;p3_1000G_AFR_AF=0.6755;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=22747;p3_1000G_EAS_AF=0.8611;p3_1000G_EUR_AF=0.9642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=125192068;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2738,1072;ESP6500_AA_GTC=989,760,156;ESP6500_CDS_SIZES=NM_130773.2:3921;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=110;ESP6500_EA_AC=7969,271;ESP6500_EA_GTC=3853,263,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_130773.2:coding-synonymous;ESP6500_GL=CNTNAP5;ESP6500_GRCh38_POSITION=2:124434491;ESP6500_GTC=4842,1023,160;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_130773.2:c.537T>C;ESP6500_HGVS_PROTEIN_VAR=NM_130773.2:p.(D179);ESP6500_MAF=3.2888,28.1365,11.1452;ESP6500_TAC=10707,1343	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2534,225,0
chr2	124504703	rs1216457295	ATTT	A	105.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.792;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-1.71;SOR=1.981;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|CNTNAP5|CNTNAP5|transcript|NM_130773.3|protein_coding|8/23|c.1324+168_1324+170delTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,5:9:99:143,0,120
chr2	124911683	rs2602655	A	G	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=0.013;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2602655;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CNTNAP5|CNTNAP5|transcript|NM_130773.3|protein_coding|23/23|c.3724+145A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2017;p3_1000G_AF=0.402756;p3_1000G_AFR_AF=0.5431;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=17757;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=125669260;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:258,0,120
chr2	126690187	rs6709803	G	A	658.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.639;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.94;MQRankSum=1.04;QD=12.67;ReadPosRankSum=0.037;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374150484,rs6709803;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|GYPC|GYPC|transcript|NM_002101.4|protein_coding|1/3|c.50-68G>A||||||,A|intron_variant|MODIFIER|GYPC|GYPC|transcript|NM_001256584.1|protein_coding|2/4|c.-14-68G>A||||||,A|intron_variant|MODIFIER|GYPC|GYPC|transcript|NM_016815.3|protein_coding|1/2|c.50-3677G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3077;p3_1000G_AF=0.614417;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=22620;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.5497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127447763;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=956,428;ESP6500_AA_GTC=335,286,71;ESP6500_CDS_SIZES=NM_016815.3:330,NM_002101.4:387,NM_001256584.1:324;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=90;ESP6500_EA_AC=1731,1451;ESP6500_EA_GTC=494,743,354;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016815.3:intron,NM_002101.4:intron,NM_001256584.1:intron;ESP6500_GL=GYPC;ESP6500_GRCh38_POSITION=2:126690187;ESP6500_GTC=829,1029,425;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016815.3:c.50-3677G>A,NM_002101.4:c.50-68G>A,NM_001256584.1:c.-82G>A;ESP6500_MAF=45.6003,30.9249,41.152;ESP6500_TAC=2687,1879	GT:AD:DP:GQ:PL	0/1:26,26:52:99:687,0,743
chr2	126693924	rs563789567	T	A	918.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=2.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=2.4;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|missense_variant|MODERATE|GYPC|GYPC|transcript|NM_002101.4|protein_coding|3/4|c.167T>A|p.Ile56Lys|496/1249|167/387|56/128||,A|missense_variant|MODERATE|GYPC|GYPC|transcript|NM_001256584.1|protein_coding|4/5|c.104T>A|p.Ile35Lys|1314/2067|104/324|35/107||,A|missense_variant|MODERATE|GYPC|GYPC|transcript|NM_016815.3|protein_coding|2/3|c.110T>A|p.Ile37Lys|439/1192|110/330|37/109||	GT:AD:DP:GQ:PL	0/1:43,36:79:99:947,0,1130
chr2	126695903	rs4538146	G	A	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.728;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.967;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=1.52;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4538146;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|GYPC|GYPC|transcript|NM_002101.4|protein_coding|3/3|c.191-43G>A||||||,A|intron_variant|MODIFIER|GYPC|GYPC|transcript|NM_001256584.1|protein_coding|4/4|c.128-43G>A||||||,A|intron_variant|MODIFIER|GYPC|GYPC|transcript|NM_016815.3|protein_coding|2/2|c.134-43G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1612;p3_1000G_AF=0.321885;p3_1000G_AFR_AF=0.4387;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=17698;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127453479;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1716,2690;ESP6500_AA_AGE=515.9+/-369.0;ESP6500_AA_GTC=327,1062,814;ESP6500_CDS_SIZES=NM_016815.3:330,NM_002101.4:387,NM_001256584.1:324;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=67;ESP6500_EA_AC=1846,6754;ESP6500_EA_AGE=328.6+/-318.4;ESP6500_EA_GTC=196,1454,2650;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016815.3:intron,NM_002101.4:intron,NM_001256584.1:intron;ESP6500_GL=GYPC;ESP6500_GRCh38_POSITION=2:126695903;ESP6500_GTC=523,2516,3464;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_016815.3:c.134-43G>A,NM_002101.4:c.191-43G>A,NM_001256584.1:c.128-43G>A;ESP6500_MAF=21.4651,38.9469,27.3874;ESP6500_TAC=3562,9444	GT:AD:DP:GQ:PL	0/1:14,17:31:99:540,0,425
chr2	126696088	rs1050967	A	C	759.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.186;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.637;SOR=0.909;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1050967;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|GYPC|GYPC|transcript|NM_002101.4|protein_coding|4/4|c.333A>C|p.Gly111Gly|662/1249|333/387|111/128||,C|synonymous_variant|LOW|GYPC|GYPC|transcript|NM_001256584.1|protein_coding|5/5|c.270A>C|p.Gly90Gly|1480/2067|270/324|90/107||,C|synonymous_variant|LOW|GYPC|GYPC|transcript|NM_016815.3|protein_coding|3/3|c.276A>C|p.Gly92Gly|605/1192|276/330|92/109||;p3_1000G_AA=C|||;p3_1000G_AC=3080;p3_1000G_AF=0.615016;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=20823;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.5497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127453664;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3045,1361;ESP6500_AA_AGE=452.2+/-349.9;ESP6500_AA_GTC=1058,929,216;ESP6500_CDS_SIZES=NM_016815.3:330,NM_002101.4:387,NM_001256584.1:324;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=110;ESP6500_EA_AC=4748,3852;ESP6500_EA_AGE=542.4+/-384.2;ESP6500_EA_GTC=1325,2098,877;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016815.3:coding-synonymous,NM_002101.4:coding-synonymous,NM_001256584.1:coding-synonymous;ESP6500_GL=GYPC;ESP6500_GRCh38_POSITION=2:126696088;ESP6500_GTC=2383,3027,1093;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_016815.3:c.276A>C,NM_002101.4:c.333A>C,NM_001256584.1:c.270A>C;ESP6500_HGVS_PROTEIN_VAR=NM_016815.3:p.(G92),NM_002101.4:p.(G111),NM_001256584.1:p.(G90);ESP6500_MAF=44.7907,30.8897,40.0815;ESP6500_TAC=7793,5213	GT:AD:DP:GQ:PL	0/1:37,31:68:99:788,0,1016
chr2	126899645	rs3795873	C	T	433.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795873;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LOC101929926|LOC101929926|transcript|NM_001322244.1|protein_coding|3/6|c.310+33C>T||||||,T|intron_variant|MODIFIER|LOC101929926|LOC101929926|transcript|NR_136239.1|pseudogene|3/6|n.343+33C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3572;p3_1000G_AF=0.713259;p3_1000G_AFR_AF=0.4372;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=12671;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.8529;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127657221;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:462,42,0
chr2	127050540	rs12466912;262474	C	G	1933.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.93;SOR=1.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12466912;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|17/18|c.1573-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|11/12|c.949-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|17/18|c.1492-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|12/13|c.1066-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|13/14|c.1204-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|14/15|c.1333-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|16/17|c.1480-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|13/14|c.1156-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|16/17|c.1444-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|14/15|c.1312-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|14/15|c.1285-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|14/15|c.1348-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|13/14|c.1240-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|13/14|c.1219-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|12/13|c.1111-18G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|11/12|c.1021-18G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=482;p3_1000G_AF=0.096246;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=19179;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127808116;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=168,4238;ESP6500_AA_AGE=810.3+/-416.0;ESP6500_AA_GTC=3,162,2038;ESP6500_CDS_SIZES=NM_139351.2:1230,NM_139350.2:1320,NM_139349.2:1428,NM_139348.2:1449,NM_139347.2:1557,NM_139346.2:1494,NM_139345.2:1521,NM_139344.2:1653,NM_139343.2:1782,NM_004305.3:1365;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=173,8427;ESP6500_EA_AGE=811.4+/-407.1;ESP6500_EA_GTC=2,169,4129;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139351.2:intron,NM_139350.2:intron,NM_139349.2:intron,NM_139348.2:intron,NM_139347.2:intron,NM_139346.2:intron,NM_139345.2:intron,NM_139344.2:intron,NM_139343.2:intron,NM_004305.3:intron;ESP6500_GL=BIN1;ESP6500_GRCh38_POSITION=2:127050540;ESP6500_GTC=5,331,6167;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_139351.2:c.1021-18G>C,NM_139350.2:c.1111-18G>C,NM_139349.2:c.1219-18G>C,NM_139348.2:c.1240-18G>C,NM_139347.2:c.1348-18G>C,NM_139346.2:c.1285-18G>C,NM_139345.2:c.1312-18G>C,NM_139344.2:c.1444-18G>C,NM_139343.2:c.1573-18G>C,NM_004305.3:c.1156-18G>C;ESP6500_MAF=2.0116,3.813,2.6219;ESP6500_TAC=341,12665;CLINVAR_AF_ESP=0.0262;CLINVAR_AF_EXAC=0.07002;CLINVAR_AF_TGP=0.0963;CLINVAR_ALLELEID=250142;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.127050540C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=BIN1:274;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12466912	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1962,171,0
chr2	127050551	rs12466914	C	G	1818.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.07;SOR=1.159;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12466914;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|17/18|c.1573-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|11/12|c.949-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|17/18|c.1492-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|12/13|c.1066-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|13/14|c.1204-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|14/15|c.1333-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|16/17|c.1480-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|13/14|c.1156-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|16/17|c.1444-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|14/15|c.1312-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|14/15|c.1285-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|14/15|c.1348-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|13/14|c.1240-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|13/14|c.1219-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|12/13|c.1111-29G>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|11/12|c.1021-29G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=482;p3_1000G_AF=0.096246;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=19627;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127808127;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=173,4233;ESP6500_AA_AGE=112.9+/-151.0;ESP6500_AA_GTC=3,167,2033;ESP6500_CDS_SIZES=NM_139351.2:1230,NM_139350.2:1320,NM_139349.2:1428,NM_139348.2:1449,NM_139347.2:1557,NM_139346.2:1494,NM_139345.2:1521,NM_139344.2:1653,NM_139343.2:1782,NM_004305.3:1365;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=77;ESP6500_EA_AC=173,8427;ESP6500_EA_AGE=79.5+/-142.1;ESP6500_EA_GTC=2,169,4129;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139351.2:intron,NM_139350.2:intron,NM_139349.2:intron,NM_139348.2:intron,NM_139347.2:intron,NM_139346.2:intron,NM_139345.2:intron,NM_139344.2:intron,NM_139343.2:intron,NM_004305.3:intron;ESP6500_GL=BIN1;ESP6500_GRCh38_POSITION=2:127050551;ESP6500_GTC=5,336,6162;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_139351.2:c.1021-29G>C,NM_139350.2:c.1111-29G>C,NM_139349.2:c.1219-29G>C,NM_139348.2:c.1240-29G>C,NM_139347.2:c.1348-29G>C,NM_139346.2:c.1285-29G>C,NM_139345.2:c.1312-29G>C,NM_139344.2:c.1444-29G>C,NM_139343.2:c.1573-29G>C,NM_004305.3:c.1156-29G>C;ESP6500_MAF=2.0116,3.9265,2.6603;ESP6500_TAC=346,12660	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1847,165,0
chr2	127050650	rs2071270	A	T	757.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2071270;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|17/18|c.1573-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|11/12|c.949-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|17/18|c.1492-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|12/13|c.1066-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|13/14|c.1204-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|14/15|c.1333-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|16/17|c.1480-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|13/14|c.1156-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|16/17|c.1444-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|14/15|c.1312-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|14/15|c.1285-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|14/15|c.1348-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|13/14|c.1240-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|13/14|c.1219-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|12/13|c.1111-128T>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|11/12|c.1021-128T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1998;p3_1000G_AF=0.398962;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=19615;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127808226;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:786,69,0
chr2	127051333	rs6745677	G	A	279.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6745677;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|15/18|c.1372-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|10/12|c.838-421C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|15/18|c.1291-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|11/13|c.955-421C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|11/14|c.1003-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|12/15|c.1132-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|14/17|c.1279-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|11/14|c.955-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|14/17|c.1243-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|12/15|c.1111-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|12/15|c.1084-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|12/15|c.1147-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|11/14|c.1039-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|11/14|c.1018-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|10/13|c.910-90C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|10/12|c.910-421C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2171;p3_1000G_AF=0.433506;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=15723;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127808909;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:308,27,0
chr2	127052334	rs141119288;262473	G	A	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=15.355;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.448;SOR=2.515;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141119288;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|BIN1|BIN1|transcript|NM_139343.2|protein_coding|15/19|c.1292C>T|p.Pro431Leu|1676/2669|1292/1782|431/593||,A|missense_variant|MODERATE|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|15/19|c.1211C>T|p.Pro404Leu|2170/3163|1211/1701|404/566||,A|missense_variant|MODERATE|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|14/18|c.1199C>T|p.Pro400Leu|1583/2576|1199/1689|400/562||,A|missense_variant|MODERATE|BIN1|BIN1|transcript|NM_139344.2|protein_coding|14/18|c.1163C>T|p.Pro388Leu|1547/2540|1163/1653|388/550||,A|missense_variant|MODERATE|BIN1|BIN1|transcript|NM_139345.2|protein_coding|12/16|c.1031C>T|p.Pro344Leu|1415/2408|1031/1521|344/506||,A|missense_variant|MODERATE|BIN1|BIN1|transcript|NM_139347.2|protein_coding|12/16|c.1067C>T|p.Pro356Leu|1451/2444|1067/1557|356/518||,A|missense_variant|MODERATE|BIN1|BIN1|transcript|NM_139349.2|protein_coding|11/15|c.938C>T|p.Pro313Leu|1322/2315|938/1428|313/475||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|10/12|c.838-1422C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|11/13|c.955-1422C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|11/14|c.1003-1091C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|12/15|c.1132-1091C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|11/14|c.955-1091C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|12/15|c.1084-1091C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|11/14|c.1039-1091C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|10/13|c.910-1091C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|10/12|c.910-1422C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=14;p3_1000G_AF=0.00279553;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13358;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127809910;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00341;CLINVAR_AF_TGP=0.0028;CLINVAR_ALLELEID=250143;CLINVAR_CLNDISDB=MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED_CT:240081004|MedGen:CN169374;CLINVAR_CLNDN=Autosomal_recessive_centronuclear_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.127052334G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=BIN1:274;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=141119288	GT:AD:DP:GQ:PL	0/1:6,7:13:99:210,0,173
chr2	127054136	rs35339559;rs397870265	G	GCA	682.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.8;SOR=2.448;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35339559;dbSNPBuildID=138,138;ANN=GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|12/18|c.1132-126_1132-125dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|10/12|c.838-3226_838-3225dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|12/18|c.1051-126_1051-125dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|11/13|c.955-3226_955-3225dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|11/14|c.1003-2895_1003-2894dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|12/15|c.1132-2895_1132-2894dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|11/17|c.1039-126_1039-125dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|11/14|c.955-2895_955-2894dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|11/17|c.1003-126_1003-125dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|11/15|c.1003-1776_1003-1775dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|12/15|c.1084-2895_1084-2894dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|11/15|c.1039-1776_1039-1775dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|11/14|c.1039-2895_1039-2894dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|10/14|c.910-1776_910-1775dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|10/13|c.910-2895_910-2894dupTG||||||,GCA|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|10/12|c.910-3226_910-3225dupTG||||||;p3_1000G_AC=1925;p3_1000G_AF=0.384385;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=19858;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127811712;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:48:720,48,0
chr2	127057662	rs3754615	G	A	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3754615;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|11/18|c.1003-61C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|10/12|c.837+1349C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|11/18|c.922-61C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|11/13|c.954+1349C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|11/14|c.1002+1349C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|11/15|c.1003-61C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|10/17|c.910-61C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|11/14|c.954+1349C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|11/17|c.1002+1349C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|11/15|c.1002+1349C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|11/15|c.955-61C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|10/15|c.910-61C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|10/14|c.910-61C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|10/14|c.909+1349C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|10/13|c.909+1349C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|10/12|c.909+1349C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=448;p3_1000G_AF=0.0894569;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=14970;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127815238;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:495,42,0
chr2	127058848	rs2276582	A	G	15.65	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.65;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276582;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|11/18|c.1002+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|10/12|c.837+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|11/18|c.921+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|11/13|c.954+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|11/14|c.1002+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|11/15|c.1002+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|10/17|c.909+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|11/14|c.954+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|11/17|c.1002+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|11/15|c.1002+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|11/15|c.954+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|10/15|c.909+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|10/14|c.909+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|10/14|c.909+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|10/13|c.909+163T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|10/12|c.909+163T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2873;p3_1000G_AF=0.573682;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=11843;p3_1000G_EAS_AF=0.5516;p3_1000G_EUR_AF=0.4135;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127816424;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,1:1:3:42,3,0
chr2	127058899	rs2276581	A	G	155.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276581;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|11/18|c.1002+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|10/12|c.837+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|11/18|c.921+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|11/13|c.954+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|11/14|c.1002+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|11/15|c.1002+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|10/17|c.909+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|11/14|c.954+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|11/17|c.1002+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|11/15|c.1002+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|11/15|c.954+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|10/15|c.909+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|10/14|c.909+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|10/14|c.909+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|10/13|c.909+112T>C||||||,G|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|10/12|c.909+112T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=450;p3_1000G_AF=0.0898562;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=12168;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.0417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127816475;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:184,15,0
chr2	127058960	rs2276580	G	A	416.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.78;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276580;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|11/18|c.1002+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|10/12|c.837+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|11/18|c.921+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|11/13|c.954+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|11/14|c.1002+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|11/15|c.1002+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|10/17|c.909+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|11/14|c.954+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|11/17|c.1002+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|11/15|c.1002+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|11/15|c.954+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|10/15|c.909+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|10/14|c.909+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|10/14|c.909+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|10/13|c.909+51C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|10/12|c.909+51C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=450;p3_1000G_AF=0.0898562;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=11893;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.0417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127816536;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=59,4311;ESP6500_AA_GTC=2,55,2128;ESP6500_CDS_SIZES=NM_139351.2:1230,NM_139350.2:1320,NM_139349.2:1428,NM_139348.2:1449,NM_139347.2:1557,NM_139346.2:1494,NM_139345.2:1521,NM_139344.2:1653,NM_139343.2:1782,NM_004305.3:1365;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=12;ESP6500_EA_AC=153,8359;ESP6500_EA_GTC=2,149,4105;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139351.2:intron,NM_139350.2:intron,NM_139349.2:intron,NM_139348.2:intron,NM_139347.2:intron,NM_139346.2:intron,NM_139345.2:intron,NM_139344.2:intron,NM_139343.2:intron,NM_004305.3:intron;ESP6500_GL=BIN1;ESP6500_GRCh38_POSITION=2:127058960;ESP6500_GTC=4,204,6233;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_139351.2:c.909+51C>T,NM_139350.2:c.909+51C>T,NM_139349.2:c.909+51C>T,NM_139348.2:c.909+51C>T,NM_139347.2:c.909+51C>T,NM_139346.2:c.954+51C>T,NM_139345.2:c.1002+51C>T,NM_139344.2:c.1002+51C>T,NM_139343.2:c.1002+51C>T,NM_004305.3:c.954+51C>T;ESP6500_MAF=1.7975,1.3501,1.6457;ESP6500_TAC=212,12670	GT:AD:DP:GQ:PL	1/1:0,15:15:45:445,45,0
chr2	127059119	rs2228955;158022	C	T	460.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.1;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228955;dbSNPBuildID=102;ANN=T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139343.2|protein_coding|11/19|c.894G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_004305.3|protein_coding|11/15|c.846G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139344.2|protein_coding|11/18|c.894G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139345.2|protein_coding|11/16|c.894G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139346.2|protein_coding|11/16|c.846G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139347.2|protein_coding|10/16|c.801G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139348.2|protein_coding|10/15|c.801G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139349.2|protein_coding|10/15|c.801G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139350.2|protein_coding|10/14|c.801G>A||||||,T|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:Phosphoserine|NM_139351.2|protein_coding|10/13|c.801G>A||||||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139343.2|protein_coding|11/19|c.894G>A|p.Ser298Ser|1278/2669|894/1782|298/593||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|10/13|c.729G>A|p.Ser243Ser|951/1883|729/1158|243/385||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|11/19|c.813G>A|p.Ser271Ser|1772/3163|813/1701|271/566||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|11/14|c.846G>A|p.Ser282Ser|1230/2162|846/1275|282/424||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|11/15|c.894G>A|p.Ser298Ser|1278/2300|894/1413|298/470||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|11/16|c.894G>A|p.Ser298Ser|1278/2429|894/1542|298/513||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|10/18|c.801G>A|p.Ser267Ser|1185/2576|801/1689|267/562||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_004305.3|protein_coding|11/15|c.846G>A|p.Ser282Ser|1230/2252|846/1365|282/454||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139344.2|protein_coding|11/18|c.894G>A|p.Ser298Ser|1278/2540|894/1653|298/550||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139345.2|protein_coding|11/16|c.894G>A|p.Ser298Ser|1278/2408|894/1521|298/506||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139346.2|protein_coding|11/16|c.846G>A|p.Ser282Ser|1230/2381|846/1494|282/497||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139347.2|protein_coding|10/16|c.801G>A|p.Ser267Ser|1185/2444|801/1557|267/518||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139348.2|protein_coding|10/15|c.801G>A|p.Ser267Ser|1185/2336|801/1449|267/482||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139349.2|protein_coding|10/15|c.801G>A|p.Ser267Ser|1185/2315|801/1428|267/475||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139350.2|protein_coding|10/14|c.801G>A|p.Ser267Ser|1185/2207|801/1320|267/439||,T|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139351.2|protein_coding|10/13|c.801G>A|p.Ser267Ser|1185/2117|801/1230|267/409||;p3_1000G_AA=c|||;p3_1000G_AC=450;p3_1000G_AF=0.0898562;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=11348;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.0417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127816695;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=55,4347;ESP6500_AA_GTC=1,53,2147;ESP6500_CDS_SIZES=NM_139351.2:1230,NM_139350.2:1320,NM_139349.2:1428,NM_139348.2:1449,NM_139347.2:1557,NM_139346.2:1494,NM_139345.2:1521,NM_139344.2:1653,NM_139343.2:1782,NM_004305.3:1365;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=27;ESP6500_EA_AC=169,8421;ESP6500_EA_GTC=2,165,4128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139351.2:coding-synonymous,NM_139350.2:coding-synonymous,NM_139349.2:coding-synonymous,NM_139348.2:coding-synonymous,NM_139347.2:coding-synonymous,NM_139346.2:coding-synonymous,NM_139345.2:coding-synonymous,NM_139344.2:coding-synonymous,NM_139343.2:coding-synonymous,NM_004305.3:coding-synonymous;ESP6500_GL=BIN1;ESP6500_GRCh38_POSITION=2:127059119;ESP6500_GTC=3,218,6275;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_139351.2:c.801G>A,NM_139350.2:c.801G>A,NM_139349.2:c.801G>A,NM_139348.2:c.801G>A,NM_139347.2:c.801G>A,NM_139346.2:c.846G>A,NM_139345.2:c.894G>A,NM_139344.2:c.894G>A,NM_139343.2:c.894G>A,NM_004305.3:c.846G>A;ESP6500_HGVS_PROTEIN_VAR=NM_139351.2:p.(S267),NM_139350.2:p.(S267),NM_139349.2:p.(S267),NM_139348.2:p.(S267),NM_139347.2:p.(S267),NM_139346.2:p.(S282),NM_139345.2:p.(S298),NM_139344.2:p.(S298),NM_139343.2:p.(S298),NM_004305.3:p.(S282);ESP6500_MAF=1.9674,1.2494,1.7241;ESP6500_TAC=224,12768;CLINVAR_AF_ESP=0.0172;CLINVAR_AF_EXAC=0.10716;CLINVAR_AF_TGP=0.0899;CLINVAR_ALLELEID=167869;CLINVAR_CLNDISDB=MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED_CT:240081004|MedGen:CN169374;CLINVAR_CLNDN=Autosomal_recessive_centronuclear_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.127059119C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:63844;CLINVAR_GENEINFO=BIN1:274;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2228955	GT:AD:DP:GQ:PL	1/1:0,17:17:51:489,51,0
chr2	127059270	rs140171337;rs546903184	CTG	C	68.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.75;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs140171337;dbSNPBuildID=134,142;ANN=C|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:phosphoserine|NM_139343.2|protein_coding|10/18|c.858-117_858-116delCA||||||,C|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:phosphoserine|NM_139344.2|protein_coding|10/17|c.858-117_858-116delCA||||||,C|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:phosphoserine|NM_139345.2|protein_coding|10/15|c.858-117_858-116delCA||||||,C|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:phosphoserine|NM_139347.2|protein_coding|9/15|c.765-117_765-116delCA||||||,C|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:phosphoserine|NM_139348.2|protein_coding|9/14|c.765-117_765-116delCA||||||,C|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:phosphoserine|NM_139349.2|protein_coding|9/14|c.765-117_765-116delCA||||||,C|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:phosphoserine|NM_139350.2|protein_coding|9/13|c.765-117_765-116delCA||||||,C|sequence_feature|MODERATE|BIN1|BIN1|modified-residue:phosphoserine|NM_139351.2|protein_coding|9/12|c.765-117_765-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|10/18|c.858-117_858-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|9/12|c.693-117_693-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|10/18|c.777-117_777-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|10/13|c.810-117_810-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|10/14|c.858-117_858-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|10/15|c.858-117_858-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|9/17|c.765-117_765-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|10/14|c.810-117_810-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|10/17|c.858-117_858-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|10/15|c.858-117_858-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|10/15|c.810-117_810-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|9/15|c.765-117_765-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|9/14|c.765-117_765-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|9/14|c.765-117_765-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|9/13|c.765-117_765-116delCA||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|9/12|c.765-117_765-116delCA||||||;p3_1000G_AC=2021;p3_1000G_AF=0.403554;p3_1000G_AFR_AF=0.23;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=17059;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.4294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127816846;p3_1000G_GRCH37_REF=CTG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:105,9,0
chr2	127063509	rs2071268	C	T	1707.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2071268;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|9/18|c.774+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|8/12|c.609+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|9/18|c.693+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|8/13|c.681+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|9/14|c.774+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|9/15|c.774+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|8/17|c.681+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|8/14|c.681+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|9/17|c.774+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|9/15|c.774+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|8/15|c.681+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|8/15|c.681+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|8/14|c.681+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|8/14|c.681+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|8/13|c.681+62G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|8/12|c.681+62G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1729;p3_1000G_AF=0.345248;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=17608;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127821085;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=228,1156;ESP6500_AA_GTC=19,190,483;ESP6500_CDS_SIZES=NM_139351.2:1230,NM_139350.2:1320,NM_139349.2:1428,NM_139348.2:1449,NM_139347.2:1557,NM_139346.2:1494,NM_139345.2:1521,NM_139344.2:1653,NM_139343.2:1782,NM_004305.3:1365;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=40;ESP6500_EA_AC=1066,2116;ESP6500_EA_GTC=186,694,711;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139351.2:intron,NM_139350.2:intron,NM_139349.2:intron,NM_139348.2:intron,NM_139347.2:intron,NM_139346.2:intron,NM_139345.2:intron,NM_139344.2:intron,NM_139343.2:intron,NM_004305.3:intron;ESP6500_GL=BIN1;ESP6500_GRCh38_POSITION=2:127063509;ESP6500_GTC=205,884,1194;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_139351.2:c.681+62G>A,NM_139350.2:c.681+62G>A,NM_139349.2:c.681+62G>A,NM_139348.2:c.681+62G>A,NM_139347.2:c.681+62G>A,NM_139346.2:c.681+62G>A,NM_139345.2:c.774+62G>A,NM_139344.2:c.774+62G>A,NM_139343.2:c.774+62G>A,NM_004305.3:c.681+62G>A;ESP6500_MAF=33.5009,16.474,28.3399;ESP6500_TAC=1294,3272	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1736,162,0
chr2	127063631	rs1137845;158018	G	A	2092.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.07;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1137845;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139343.2|protein_coding|9/19|c.714C>T|p.Tyr238Tyr|1098/2669|714/1782|238/593||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|8/13|c.549C>T|p.Tyr183Tyr|771/1883|549/1158|183/385||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|9/19|c.633C>T|p.Tyr211Tyr|1592/3163|633/1701|211/566||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|8/14|c.621C>T|p.Tyr207Tyr|1005/2162|621/1275|207/424||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|9/15|c.714C>T|p.Tyr238Tyr|1098/2300|714/1413|238/470||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|9/16|c.714C>T|p.Tyr238Tyr|1098/2429|714/1542|238/513||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|8/18|c.621C>T|p.Tyr207Tyr|1005/2576|621/1689|207/562||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_004305.3|protein_coding|8/15|c.621C>T|p.Tyr207Tyr|1005/2252|621/1365|207/454||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139344.2|protein_coding|9/18|c.714C>T|p.Tyr238Tyr|1098/2540|714/1653|238/550||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139345.2|protein_coding|9/16|c.714C>T|p.Tyr238Tyr|1098/2408|714/1521|238/506||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139346.2|protein_coding|8/16|c.621C>T|p.Tyr207Tyr|1005/2381|621/1494|207/497||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139347.2|protein_coding|8/16|c.621C>T|p.Tyr207Tyr|1005/2444|621/1557|207/518||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139348.2|protein_coding|8/15|c.621C>T|p.Tyr207Tyr|1005/2336|621/1449|207/482||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139349.2|protein_coding|8/15|c.621C>T|p.Tyr207Tyr|1005/2315|621/1428|207/475||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139350.2|protein_coding|8/14|c.621C>T|p.Tyr207Tyr|1005/2207|621/1320|207/439||,A|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139351.2|protein_coding|8/13|c.621C>T|p.Tyr207Tyr|1005/2117|621/1230|207/409||;p3_1000G_AA=G|||;p3_1000G_AC=483;p3_1000G_AF=0.0964457;p3_1000G_AFR_AF=0.0227;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=19365;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127821207;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=70,4336;ESP6500_AA_AGE=64.7+/-102.0;ESP6500_AA_GTC=0,70,2133;ESP6500_CDS_SIZES=NM_139351.2:1230,NM_139350.2:1320,NM_139349.2:1428,NM_139348.2:1449,NM_139347.2:1557,NM_139346.2:1494,NM_139345.2:1521,NM_139344.2:1653,NM_139343.2:1782,NM_004305.3:1365;ESP6500_CG=-9.3;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=248,8352;ESP6500_EA_AGE=98.4+/-159.9;ESP6500_EA_GTC=6,236,4058;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139351.2:coding-synonymous,NM_139350.2:coding-synonymous,NM_139349.2:coding-synonymous,NM_139348.2:coding-synonymous,NM_139347.2:coding-synonymous,NM_139346.2:coding-synonymous,NM_139345.2:coding-synonymous,NM_139344.2:coding-synonymous,NM_139343.2:coding-synonymous,NM_004305.3:coding-synonymous;ESP6500_GL=BIN1;ESP6500_GRCh38_POSITION=2:127063631;ESP6500_GTC=6,306,6191;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_139351.2:c.621C>T,NM_139350.2:c.621C>T,NM_139349.2:c.621C>T,NM_139348.2:c.621C>T,NM_139347.2:c.621C>T,NM_139346.2:c.621C>T,NM_139345.2:c.714C>T,NM_139344.2:c.714C>T,NM_139343.2:c.714C>T,NM_004305.3:c.621C>T;ESP6500_HGVS_PROTEIN_VAR=NM_139351.2:p.(Y207),NM_139350.2:p.(Y207),NM_139349.2:p.(Y207),NM_139348.2:p.(Y207),NM_139347.2:p.(Y207),NM_139346.2:p.(Y207),NM_139345.2:p.(Y238),NM_139344.2:p.(Y238),NM_139343.2:p.(Y238),NM_004305.3:p.(Y207);ESP6500_MAF=2.8837,1.5887,2.445;ESP6500_TAC=318,12688;CLINVAR_AF_ESP=0.0245;CLINVAR_AF_EXAC=0.08084;CLINVAR_AF_TGP=0.0965;CLINVAR_ALLELEID=167865;CLINVAR_CLNDISDB=MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED_CT:240081004|MedGen:CN169374;CLINVAR_CLNDN=Autosomal_recessive_centronuclear_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.127063631G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:63856;CLINVAR_GENEINFO=BIN1:274;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1137845	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2121,215,0
chr2	127063923	rs72481904;158017	T	C	2444.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=0.934;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72481904;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|8/18|c.698+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|7/12|c.533+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|8/18|c.617+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|7/13|c.605+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|8/14|c.698+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|8/15|c.698+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|7/17|c.605+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|7/14|c.605+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|8/17|c.698+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|8/15|c.698+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|7/15|c.605+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|7/15|c.605+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|7/14|c.605+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|7/14|c.605+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|7/13|c.605+10A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|7/12|c.605+10A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1729;p3_1000G_AF=0.345248;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=15886;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.3658;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127821499;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=733,3673;ESP6500_AA_AGE=755.4+/-412.5;ESP6500_AA_GTC=56,621,1526;ESP6500_CDS_SIZES=NM_139351.2:1230,NM_139350.2:1320,NM_139349.2:1428,NM_139348.2:1449,NM_139347.2:1557,NM_139346.2:1494,NM_139345.2:1521,NM_139344.2:1653,NM_139343.2:1782,NM_004305.3:1365;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=66;ESP6500_EA_AC=3002,5598;ESP6500_EA_AGE=663.6+/-402.1;ESP6500_EA_GTC=524,1954,1822;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139351.2:intron,NM_139350.2:intron,NM_139349.2:intron,NM_139348.2:intron,NM_139347.2:intron,NM_139346.2:intron,NM_139345.2:intron,NM_139344.2:intron,NM_139343.2:intron,NM_004305.3:intron;ESP6500_GL=BIN1;ESP6500_GRCh38_POSITION=2:127063923;ESP6500_GTC=580,2575,3348;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_139351.2:c.605+10A>G,NM_139350.2:c.605+10A>G,NM_139349.2:c.605+10A>G,NM_139348.2:c.605+10A>G,NM_139347.2:c.605+10A>G,NM_139346.2:c.605+10A>G,NM_139345.2:c.698+10A>G,NM_139344.2:c.698+10A>G,NM_139343.2:c.698+10A>G,NM_004305.3:c.605+10A>G;ESP6500_MAF=34.907,16.6364,28.7175;ESP6500_TAC=3735,9271;CLINVAR_AF_ESP=0.2872;CLINVAR_AF_EXAC=0.37037;CLINVAR_AF_TGP=0.3453;CLINVAR_ALLELEID=167864;CLINVAR_CLNDISDB=MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED_CT:240081004|MedGen:CN169374;CLINVAR_CLNDN=Autosomal_recessive_centronuclear_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.127063923T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25844;CLINVAR_GENEINFO=BIN1:274;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=72481904	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2473,243,0
chr2	127068957	rs1060743;158015	A	G	1525.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1060743;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139343.2|protein_coding|6/19|c.486T>C|p.Thr162Thr|870/2669|486/1782|162/593||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|6/13|c.414T>C|p.Thr138Thr|636/1883|414/1158|138/385||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|6/19|c.405T>C|p.Thr135Thr|1364/3163|405/1701|135/566||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|6/14|c.486T>C|p.Thr162Thr|870/2162|486/1275|162/424||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|6/15|c.486T>C|p.Thr162Thr|870/2300|486/1413|162/470||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|6/16|c.486T>C|p.Thr162Thr|870/2429|486/1542|162/513||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|6/18|c.486T>C|p.Thr162Thr|870/2576|486/1689|162/562||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_004305.3|protein_coding|6/15|c.486T>C|p.Thr162Thr|870/2252|486/1365|162/454||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139344.2|protein_coding|6/18|c.486T>C|p.Thr162Thr|870/2540|486/1653|162/550||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139345.2|protein_coding|6/16|c.486T>C|p.Thr162Thr|870/2408|486/1521|162/506||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139346.2|protein_coding|6/16|c.486T>C|p.Thr162Thr|870/2381|486/1494|162/497||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139347.2|protein_coding|6/16|c.486T>C|p.Thr162Thr|870/2444|486/1557|162/518||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139348.2|protein_coding|6/15|c.486T>C|p.Thr162Thr|870/2336|486/1449|162/482||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139349.2|protein_coding|6/15|c.486T>C|p.Thr162Thr|870/2315|486/1428|162/475||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139350.2|protein_coding|6/14|c.486T>C|p.Thr162Thr|870/2207|486/1320|162/439||,G|synonymous_variant|LOW|BIN1|BIN1|transcript|NM_139351.2|protein_coding|6/13|c.486T>C|p.Thr162Thr|870/2117|486/1230|162/409||;p3_1000G_AA=A|||;p3_1000G_AC=1776;p3_1000G_AF=0.354633;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=17643;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.2913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127826533;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1037,3369;ESP6500_AA_GTC=132,773,1298;ESP6500_CDS_SIZES=NM_139351.2:1230,NM_139350.2:1320,NM_139349.2:1428,NM_139348.2:1449,NM_139347.2:1557,NM_139346.2:1494,NM_139345.2:1521,NM_139344.2:1653,NM_139343.2:1782,NM_004305.3:1365;ESP6500_CG=-7.0;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=139;ESP6500_EA_AC=2498,6102;ESP6500_EA_GTC=366,1766,2168;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_139351.2:coding-synonymous,NM_139350.2:coding-synonymous,NM_139349.2:coding-synonymous,NM_139348.2:coding-synonymous,NM_139347.2:coding-synonymous,NM_139346.2:coding-synonymous,NM_139345.2:coding-synonymous,NM_139344.2:coding-synonymous,NM_139343.2:coding-synonymous,NM_004305.3:coding-synonymous;ESP6500_GL=BIN1;ESP6500_GRCh38_POSITION=2:127068957;ESP6500_GTC=498,2539,3466;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_139351.2:c.486T>C,NM_139350.2:c.486T>C,NM_139349.2:c.486T>C,NM_139348.2:c.486T>C,NM_139347.2:c.486T>C,NM_139346.2:c.486T>C,NM_139345.2:c.486T>C,NM_139344.2:c.486T>C,NM_139343.2:c.486T>C,NM_004305.3:c.486T>C;ESP6500_HGVS_PROTEIN_VAR=NM_139351.2:p.(T162),NM_139350.2:p.(T162),NM_139349.2:p.(T162),NM_139348.2:p.(T162),NM_139347.2:p.(T162),NM_139346.2:p.(T162),NM_139345.2:p.(T162),NM_139344.2:p.(T162),NM_139343.2:p.(T162),NM_004305.3:p.(T162);ESP6500_MAF=29.0465,23.5361,27.1798;ESP6500_TAC=3535,9471;CLINVAR_AF_ESP=0.2718;CLINVAR_AF_EXAC=0.33436;CLINVAR_AF_TGP=0.3546;CLINVAR_ALLELEID=167862;CLINVAR_CLNDISDB=MedGen:C0410204,OMIM:255200,Orphanet:ORPHA169186,SNOMED_CT:240081004|MedGen:CN169374;CLINVAR_CLNDN=Autosomal_recessive_centronuclear_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.127068957A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25867;CLINVAR_GENEINFO=BIN1:274;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1060743	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1554,150,0
chr2	127081858	rs4663093	C	T	549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.574;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.01;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4663093;dbSNPBuildID=111;ANN=T|5_prime_UTR_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|1/13|c.-15G>A|||||15|,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|1/18|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|1/18|c.3+1731G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|1/13|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|1/14|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|1/15|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|1/17|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|1/14|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|1/17|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|1/15|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|1/15|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|1/15|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|1/14|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|1/14|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|1/13|c.85-5152G>A||||||,T|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|1/12|c.85-5152G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=361;p3_1000G_AF=0.0720847;p3_1000G_AFR_AF=0.0764;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=16823;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127839434;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0429;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,25:46:99:578,0,579
chr2	127081898	rs11682128	G	A	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.219;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.971;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11682128;dbSNPBuildID=120;ANN=A|5_prime_UTR_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|1/13|c.-55C>T|||||55|,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|1/18|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|1/18|c.3+1691C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|1/13|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|1/14|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|1/15|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|1/17|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|1/14|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|1/17|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|1/15|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|1/15|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|1/15|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|1/14|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|1/14|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|1/13|c.85-5192C>T||||||,A|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|1/12|c.85-5192C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1418;p3_1000G_AF=0.283147;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=16482;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.3588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127839474;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,15:32:99:375,0,487
chr2	127081958	rs11690153	T	C	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.49;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=2.17;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11690153;dbSNPBuildID=120;ANN=C|5_prime_UTR_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320634.1|protein_coding|1/13|c.-115A>G|||||115|,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139343.2|protein_coding|1/18|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320642.1|protein_coding|1/18|c.3+1631A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320632.1|protein_coding|1/13|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320633.1|protein_coding|1/14|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320640.1|protein_coding|1/15|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_001320641.1|protein_coding|1/17|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_004305.3|protein_coding|1/14|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139344.2|protein_coding|1/17|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139345.2|protein_coding|1/15|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139346.2|protein_coding|1/15|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139347.2|protein_coding|1/15|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139348.2|protein_coding|1/14|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139349.2|protein_coding|1/14|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139350.2|protein_coding|1/13|c.85-5252A>G||||||,C|intron_variant|MODIFIER|BIN1|BIN1|transcript|NM_139351.2|protein_coding|1/12|c.85-5252A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=533;p3_1000G_AF=0.10643;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=15206;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.2117;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127839534;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:357,0,214
chr2	127187205	rs11384285	A	AC	389.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.1;SOR=0.77;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11384285;dbSNPBuildID=126;ANN=AC|3_prime_UTR_variant|MODIFIER|CYP27C1|CYP27C1|transcript|NM_001001665.3|protein_coding|8/8|c.*65_*66insG|||||65|;p3_1000G_AA=C|-|C|deletion;p3_1000G_AC=3720;p3_1000G_AF=0.742812;p3_1000G_AFR_AF=0.941;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=18581;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127944781;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:18,13:31:99:427,0,629
chr2	127193328	rs885276	A	T	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.776;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.36;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs885276;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|CYP27C1|CYP27C1|transcript|NM_001001665.3|protein_coding|6/7|c.799-31T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2315;p3_1000G_AF=0.46226;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=17170;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.4354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127950904;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1950,2456;ESP6500_AA_AGE=618.7+/-393.2;ESP6500_AA_GTC=431,1088,684;ESP6500_CDS_SIZES=NM_001001665.3:1119;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=40;ESP6500_EA_AC=3583,5017;ESP6500_EA_AGE=626.3+/-397.8;ESP6500_EA_GTC=757,2069,1474;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001665.3:intron;ESP6500_GL=CYP27C1;ESP6500_GRCh38_POSITION=2:127193328;ESP6500_GTC=1188,3157,2158;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001665.3:c.799-31T>A;ESP6500_MAF=41.6628,44.2578,42.5419;ESP6500_TAC=5533,7473	GT:AD:DP:GQ:PL	0/1:6,6:12:99:182,0,186
chr2	127193882	rs2089109	G	A	779.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.028;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-0.179;SOR=0.928;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2089109;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|CYP27C1|CYP27C1|transcript|NM_001001665.3|protein_coding|5/7|c.720-15C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2387;p3_1000G_AF=0.476637;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=17308;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.4354;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127951458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2140,2266;ESP6500_AA_GTC=524,1092,587;ESP6500_CDS_SIZES=NM_001001665.3:1119;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=42;ESP6500_EA_AC=3534,5066;ESP6500_EA_GTC=758,2018,1524;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001665.3:intron;ESP6500_GL=CYP27C1;ESP6500_GRCh38_POSITION=2:127193882;ESP6500_GTC=1282,3110,2111;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001665.3:c.720-15C>T;ESP6500_MAF=41.093,48.5701,43.626;ESP6500_TAC=5674,7332	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,21:42:99:0|1:127193879_C_A:808,0,1129
chr2	127193883	rs12476709	C	T	779.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.043;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.204;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=-0.554;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12476709;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CYP27C1|CYP27C1|transcript|NM_001001665.3|protein_coding|5/7|c.720-16G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2005;p3_1000G_AF=0.400359;p3_1000G_AFR_AF=0.2398;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=17444;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127951459;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1157,3249;ESP6500_AA_GTC=168,821,1214;ESP6500_CDS_SIZES=NM_001001665.3:1119;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=42;ESP6500_EA_AC=3516,5084;ESP6500_EA_GTC=748,2020,1532;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001665.3:intron;ESP6500_GL=CYP27C1;ESP6500_GRCh38_POSITION=2:127193883;ESP6500_GTC=916,2841,2746;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001665.3:c.720-16G>A;ESP6500_MAF=40.8837,26.2596,35.9296;ESP6500_TAC=4673,8333	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,21:41:99:0|1:127193879_C_A:808,0,1129
chr2	127200941	rs11680885	C	T	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.342;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.881;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11680885;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CYP27C1|CYP27C1|transcript|NM_001001665.3|protein_coding|3/7|c.388+181G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1261;p3_1000G_AF=0.251797;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=16537;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.2753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=127958517;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:225,0,164
chr2	127200962	rs752442186	CA	C	42.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.214;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.416;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=0.234;SOR=0.169;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|CYP27C1|CYP27C1|transcript|NM_001001665.3|protein_coding|3/7|c.388+159delT||||||	GT:AD:DP:GQ:PL	0/1:18,6:24:80:80,0,382
chr2	127257791	rs4662718	C	T	188.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.47;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4662718;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_000122.1|protein_coding|14/14|c.2218-64G>A||||||,T|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303416.1|protein_coding|14/14|c.2026-64G>A||||||,T|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303418.1|protein_coding|14/14|c.2026-64G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4075;p3_1000G_AF=0.813698;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=17845;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128015367;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:217,18,0
chr2	127271216	rs4150499	T	C	585.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.49;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4150499;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_000122.1|protein_coding|12/14|c.1945+120A>G||||||,C|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303416.1|protein_coding|12/14|c.1753+120A>G||||||,C|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303418.1|protein_coding|12/14|c.1753+120A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4104;p3_1000G_AF=0.819489;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=20370;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128028792;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:614,48,0
chr2	127271489	rs11345447;rs398042650;rs534023758;~rs11345447	GA	G	470.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.15;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11345447;dbSNPBuildID=137,138;ANN=G|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_000122.1|protein_coding|11/14|c.1828-37delT||||||,G|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303416.1|protein_coding|11/14|c.1636-37delT||||||,G|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303418.1|protein_coding|11/14|c.1636-37delT||||||;p3_1000G_AC=1769;p3_1000G_AF=0.353235;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=18250;p3_1000G_EAS_AF=0.4008;p3_1000G_EUR_AF=0.2883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128029065;p3_1000G_GRCH37_REF=GA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=INDEL;ESP6500_AA_AC=83,1590,2591;ESP6500_AA_GTC=0,4,79,263,1060,726;ESP6500_CDS_SIZES=NM_000122.1:2349,NM_000122.1:2349;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=44;ESP6500_EA_AC=133,2476,5641;ESP6500_EA_GTC=0,4,129,320,1832,1840;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000122.1:intron,NM_000122.1:intron;ESP6500_GL=ERCC3;ESP6500_GRCh38_POSITION=2:127271489;ESP6500_GTC=0,8,208,583,2892,2566;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_000122.1:c.1828-37del1,NM_000122.1:c.1828-37_1828-36insT;ESP6500_MAF=31.6242,39.2355,34.2177;ESP6500_TAC=216,4066,8232	GT:AD:DP:GQ:PL	1/1:0,18:18:54:508,54,0
chr2	127288972	rs4150416	C	A	694.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.74;SOR=3.716;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4150416;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_000122.1|protein_coding|6/14|c.823-108G>T||||||,A|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303416.1|protein_coding|6/14|c.631-108G>T||||||,A|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303418.1|protein_coding|6/14|c.631-108G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3705;p3_1000G_AF=0.739816;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=22179;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.6938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128046548;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:723,60,0
chr2	127292558	rs4150402	T	C	991.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4150402;dbSNPBuildID=110;ANN=C|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_000122.1|protein_coding|3/14|c.471+52A>G||||||,C|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303416.1|protein_coding|3/14|c.279+52A>G||||||,C|intron_variant|MODIFIER|ERCC3|ERCC3|transcript|NM_001303418.1|protein_coding|3/14|c.279+52A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4131;p3_1000G_AF=0.82488;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=22111;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.7505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128050134;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7679;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1374,378;ESP6500_AA_GTC=541,292,43;ESP6500_CDS_SIZES=NM_000122.1:2349;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=102;ESP6500_EA_AC=2849,1133;ESP6500_EA_GTC=1016,817,158;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000122.1:intron;ESP6500_GL=ERCC3;ESP6500_GRCh38_POSITION=2:127292558;ESP6500_GTC=1557,1109,201;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000122.1:c.471+52A>G;ESP6500_MAF=28.453,21.5753,26.3516;ESP6500_TAC=4223,1511	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1020,87,0
chr2	127419801	rs1158867	C	T	316.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1158867;dbSNPBuildID=87;ANN=T|downstream_gene_variant|MODIFIER|MIR4783|MIR4783|transcript|NR_039944.1|pseudogene||n.*3736G>A|||||3736|,T|intron_variant|MODIFIER|PROC|PROC|transcript|NM_000312.3|protein_coding|1/8|c.-21-121C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2846;p3_1000G_AF=0.568291;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=20684;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128177377;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:345,30,0
chr2	127423296	rs5936;255809	G	T	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.3;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=4.677;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.584;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5936;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|PROC|PROC|transcript|NM_000312.3|protein_coding|6/9|c.423G>T|p.Ser141Ser|517/1780|423/1386|141/461||,T|downstream_gene_variant|MODIFIER|MIR4783|MIR4783|transcript|NR_039944.1|pseudogene||n.*241C>A|||||241|;p3_1000G_AA=G|||;p3_1000G_AC=3234;p3_1000G_AF=0.645767;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=10955;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.6789;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128180872;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3071,1095;ESP6500_AA_GTC=1150,771,162;ESP6500_CDS_SIZES=NM_000312.3:1386;ESP6500_CG=0.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=9;ESP6500_EA_AC=5864,2340;ESP6500_EA_GTC=2105,1654,343;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000312.3:coding-synonymous;ESP6500_GL=PROC;ESP6500_GRCh38_POSITION=2:127423296;ESP6500_GTC=3255,2425,505;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000312.3:c.423G>T;ESP6500_HGVS_PROTEIN_VAR=NM_000312.3:p.(S141);ESP6500_MAF=28.5227,26.2842,27.7688;ESP6500_TAC=8935,3435;CLINVAR_ALLELEID=250154;CLINVAR_CLNDISDB=MedGen:C2674321,OMIM:176860|MedGen:CN169374;CLINVAR_CLNDN=Thrombophilia,_hereditary,_due_to_protein_C_deficiency,_autosomal_dominant|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.127423296G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25787;CLINVAR_GENEINFO=PROC:5624;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5936	GT:AD:DP:GQ:PL	0/1:20,20:40:99:523,0,535
chr2	127423452	rs1878844	A	G	848.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.95;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1878844;dbSNPBuildID=92;ANN=G|sequence_feature|LOW|PROC|PROC|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_000312.3|protein_coding|6/8|c.535+44A>G||||||,G|downstream_gene_variant|MODIFIER|MIR4783|MIR4783|transcript|NR_039944.1|pseudogene||n.*85T>C|||||85|,G|intron_variant|MODIFIER|PROC|PROC|transcript|NM_000312.3|protein_coding|6/8|c.535+44A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4983;p3_1000G_AF=0.995008;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=12692;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128181028;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3921,77;ESP6500_AA_GTC=1922,77,0;ESP6500_CDS_SIZES=NM_000312.3:1386;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=4;ESP6500_EA_AC=7723,1;ESP6500_EA_GTC=3861,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000312.3:intron;ESP6500_GL=PROC;ESP6500_GRCh38_POSITION=2:127423452;ESP6500_GTC=5783,78,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000312.3:c.535+44A>G;ESP6500_MAF=0.0129,1.926,0.6654;ESP6500_TAC=11644,78	GT:AD:DP:GQ:PL	1/1:0,25:25:75:877,75,0
chr2	127426338	rs2069928	G	T	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.221;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.543;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2069928;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|MIR4783|MIR4783|transcript|NR_039944.1|pseudogene||n.-2720C>A|||||2720|,T|intron_variant|MODIFIER|PROC|PROC|transcript|NM_000312.3|protein_coding|7/8|c.678+111G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1133;p3_1000G_AF=0.226238;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=15635;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128183914;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:168,0,283
chr2	127491865	rs334152	C	T	298.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs334152;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|IWS1|IWS1|transcript|NM_017969.2|protein_coding|10/13|c.2047+106G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4687;p3_1000G_AF=0.935903;p3_1000G_AFR_AF=0.9834;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=18221;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.832;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128249441;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:327,27,0
chr2	127523893	rs2303947	C	T	1125.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.45;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2303947;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|IWS1|IWS1|transcript|NM_017969.2|protein_coding|1/13|c.35-102G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2390;p3_1000G_AF=0.477236;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=23662;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.6223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128281469;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1154,90,0
chr2	127564195	rs2404991	G	A	1605.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=0.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2404991;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|3/47|c.61G>A|p.Gly21Ser|114/6715|61/6351|21/2116||,A|intron_variant|MODIFIER|LOC105373609|LOC105373609|transcript|NR_132317.1|pseudogene|2/2|n.182+493C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1980;p3_1000G_AF=0.395367;p3_1000G_AFR_AF=0.1392;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=20314;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.4801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128321770;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=773,3267;ESP6500_AA_GTC=85,603,1332;ESP6500_CDS_SIZES=NM_001080527.1:6351;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=4180,4166;ESP6500_EA_GTC=1054,2072,1047;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080527.1:missense;ESP6500_GL=MYO7B;ESP6500_GRCh38_POSITION=2:127564195;ESP6500_GS=56;ESP6500_GTC=1139,2675,2379;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080527.1:c.61G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080527.1:p.(G21S);ESP6500_MAF=49.9161,19.1337,39.9887;ESP6500_PH=benign:0.027;ESP6500_TAC=4953,7433	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1634,159,0
chr2	127566550	rs11438188	C	CT	689.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=3.5;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11438188;dbSNPBuildID=130;ANN=CT|intron_variant|MODIFIER|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|4/46|c.286-93_286-92insT||||||,CT|intron_variant|MODIFIER|LOC105373609|LOC105373609|transcript|NR_132317.1|pseudogene|1/2|n.83-1764_83-1763insA||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=4568;p3_1000G_AF=0.912141;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=17809;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.7962;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128324125;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:727,54,0
chr2	127566783	rs117561134	C	T	950.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.507;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.905;SOR=0.725;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117561134;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|5/47|c.426C>T|p.Tyr142Tyr|479/6715|426/6351|142/2116||,T|intron_variant|MODIFIER|LOC105373609|LOC105373609|transcript|NR_132317.1|pseudogene|1/2|n.83-1996G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=83;p3_1000G_AF=0.0165735;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=22529;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128324358;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=5,4261;ESP6500_AA_GTC=0,5,2128;ESP6500_CDS_SIZES=NM_001080527.1:6351;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=56;ESP6500_EA_AC=1,8487;ESP6500_EA_GTC=0,1,4243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080527.1:coding-synonymous;ESP6500_GL=MYO7B;ESP6500_GRCh38_POSITION=2:127566783;ESP6500_GTC=0,6,6371;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080527.1:c.426C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001080527.1:p.(Y142);ESP6500_MAF=0.0118,0.1172,0.047;ESP6500_TAC=6,12748	GT:AD:DP:GQ:PL	0/1:26,38:64:99:979,0,619
chr2	127569689	rs369148703	A	T	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.197;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.22;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369148703;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|5/46|c.471-100A>T||||||,T|intron_variant|MODIFIER|LOC105373609|LOC105373609|transcript|NR_132317.1|pseudogene|1/2|n.82+1192T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=8;p3_1000G_AF=0.00159744;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22455;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128327264;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,14:27:99:349,0,373
chr2	127580944	rs35136538	T	G	216.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.01;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35136538;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|10/46|c.1080+122T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1767;p3_1000G_AF=0.352835;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=16638;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.4304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128338519;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:245,18,0
chr2	127581881	rs4662740	G	T	1186.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4662740;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|10/46|c.1081-10G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1665;p3_1000G_AF=0.332468;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=19476;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.4294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128339456;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=415,3695;ESP6500_AA_GTC=24,367,1664;ESP6500_CDS_SIZES=NM_001080527.1:6351;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=66;ESP6500_EA_AC=3536,4870;ESP6500_EA_GTC=761,2014,1428;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080527.1:intron;ESP6500_GL=MYO7B;ESP6500_GRCh38_POSITION=2:127581881;ESP6500_GTC=785,2381,3092;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080527.1:c.1081-10G>T;ESP6500_MAF=42.0652,10.0973,31.5676;ESP6500_TAC=3951,8565	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1215,117,0
chr2	127584972	rs4662741	G	A	1019.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=2.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4662741;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|14/46|c.1690+59G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4601;p3_1000G_AF=0.91873;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=19168;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128342547;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8446;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1048,96,0
chr2	127588385	rs10928773	T	C	1018.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=2.546;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10928773;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|14/46|c.1691-7T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1957;p3_1000G_AF=0.390775;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=17832;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.4294;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128345960;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1111,2833;ESP6500_AA_GTC=175,761,1036;ESP6500_CDS_SIZES=NM_001080527.1:6351;ESP6500_CG=2.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=38;ESP6500_EA_AC=3508,4776;ESP6500_EA_GTC=760,1988,1394;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080527.1:intron;ESP6500_GL=MYO7B;ESP6500_GRCh38_POSITION=2:127588385;ESP6500_GTC=935,2749,2430;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080527.1:c.1691-7T>C;ESP6500_MAF=42.3467,28.1694,37.774;ESP6500_TAC=4619,7609	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1047,87,0
chr2	127593003	rs397717927;rs58867441	T	TG	495.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=4.047;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs58867441;dbSNPBuildID=137,138;ANN=TG|intron_variant|MODIFIER|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|17/46|c.2145+59dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GG|GGG|deletion;p3_1000G_AC=4903;p3_1000G_AF=0.979034;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=11663;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128350578;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9479;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:533,45,0
chr2	127605955	rs11382004;~rs11382004	G	GC	565.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=1.739;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11382004;dbSNPBuildID=135;ANN=GC|intron_variant|MODIFIER|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|20/46|c.2424+29dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCC|CC|CCC|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17700;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128363530;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3546,6;ESP6500_AA_GTC=1770,6,0;ESP6500_CDS_SIZES=NM_001080527.1:6351;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=23;ESP6500_EA_AC=7831,9;ESP6500_EA_GTC=3912,7,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080527.1:intron;ESP6500_GL=MYO7B;ESP6500_GRCh38_POSITION=2:127605955;ESP6500_GTC=5682,13,1;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080527.1:c.2424+27_2424+28insC;ESP6500_MAF=0.1148,0.1689,0.1317;ESP6500_TAC=11377,15	GT:AD:DP:GQ:PL	1/1:0,17:17:51:603,51,0
chr2	127637386	.	G	A	402.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.019;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=0.613;SOR=0.252;SNP;HET;VARTYPE=SNP;ANN=A|missense_variant|MODERATE|MYO7B|MYO7B|transcript|NM_001080527.1|protein_coding|47/47|c.6320G>A|p.Gly2107Asp|6373/6715|6320/6351|2107/2116||,A|downstream_gene_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_017980.4|protein_coding||c.*1895C>T|||||1035|,A|downstream_gene_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001256542.1|protein_coding||c.*1895C>T|||||1035|,A|downstream_gene_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001136037.2|protein_coding||c.*1895C>T|||||1035|,A|downstream_gene_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001161403.1|protein_coding||c.*1895C>T|||||1035|,A|downstream_gene_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001161404.1|protein_coding||c.*1895C>T|||||1035|	GT:AD:DP:GQ:PL	0/1:8,16:24:99:431,0,198
chr2	127643033	rs4662751;260987	C	T	857.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4662751;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|LIMS2|LIMS2|transcript|NM_017980.4|protein_coding|5/10|c.471G>A|p.Lys157Lys|676/2163|471/1098|157/365||,T|synonymous_variant|LOW|LIMS2|LIMS2|transcript|NM_001136037.2|protein_coding|6/11|c.465G>A|p.Lys155Lys|631/2118|465/1092|155/363||,T|synonymous_variant|LOW|LIMS2|LIMS2|transcript|NM_001161403.1|protein_coding|5/10|c.399G>A|p.Lys133Lys|565/2052|399/1026|133/341||,T|synonymous_variant|LOW|LIMS2|LIMS2|transcript|NM_001161404.1|protein_coding|5/10|c.384G>A|p.Lys128Lys|855/2342|384/1011|128/336||,T|5_prime_UTR_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001256542.1|protein_coding|2/7|c.-58G>A|||||58|,T|upstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161415.1|protein_coding||c.-6979C>T|||||2831|,T|upstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161416.1|protein_coding||c.-7703C>T|||||2831|,T|upstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161417.1|protein_coding||c.-7703C>T|||||2831|,T|upstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_005291.2|protein_coding||c.-6979C>T|||||2831|;p3_1000G_AA=C|||;p3_1000G_AC=2730;p3_1000G_AF=0.545128;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=17845;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.5427;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128400608;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2026,2358;ESP6500_AA_GTC=473,1080,639;ESP6500_CDS_SIZES=NM_017980.4:1098,NM_001256542.1:570,NM_001161404.1:1011,NM_001161403.1:1026,NM_001136037.2:1092;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=49;ESP6500_EA_AC=4544,4046;ESP6500_EA_GTC=1192,2160,943;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017980.4:coding-synonymous,NM_001256542.1:utr-5,NM_001161404.1:coding-synonymous,NM_001161403.1:coding-synonymous,NM_001136037.2:coding-synonymous;ESP6500_GL=LIMS2;ESP6500_GRCh38_POSITION=2:127643033;ESP6500_GTC=1665,3240,1582;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017980.4:c.471G>A,NM_001256542.1:c.-58G>A,NM_001161404.1:c.384G>A,NM_001161403.1:c.399G>A,NM_001136037.2:c.465G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017980.4:p.(K157),.,NM_001161404.1:p.(K128),NM_001161403.1:p.(K133),NM_001136037.2:p.(K155);ESP6500_MAF=47.1013,46.2135,49.3603;ESP6500_TAC=6570,6404;CLINVAR_ALLELEID=250158;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.127643033C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LIMS2:55679;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4662751	GT:AD:DP:GQ:PL	1/1:0,28:28:84:886,84,0
chr2	127654360	rs6707277	A	G	455.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.55;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6707277;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161415.1|protein_coding||c.*2605A>G|||||1721|,G|downstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161416.1|protein_coding||c.*2605A>G|||||1721|,G|downstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161417.1|protein_coding||c.*2605A>G|||||1721|,G|downstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_005291.2|protein_coding||c.*2605A>G|||||1721|,G|intron_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_017980.4|protein_coding|4/9|c.431+64T>C||||||,G|intron_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001136037.2|protein_coding|5/10|c.425+64T>C||||||,G|intron_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001161403.1|protein_coding|4/9|c.359+64T>C||||||,G|intron_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001161404.1|protein_coding|4/9|c.344+64T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4380;p3_1000G_AF=0.874601;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=15388;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.8698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128411934;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:484,39,0
chr2	127654376	rs6707282	A	G	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6707282;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161415.1|protein_coding||c.*2621A>G|||||1737|,G|downstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161416.1|protein_coding||c.*2621A>G|||||1737|,G|downstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_001161417.1|protein_coding||c.*2621A>G|||||1737|,G|downstream_gene_variant|MODIFIER|GPR17|GPR17|transcript|NM_005291.2|protein_coding||c.*2621A>G|||||1737|,G|intron_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_017980.4|protein_coding|4/9|c.431+48T>C||||||,G|intron_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001136037.2|protein_coding|5/10|c.425+48T>C||||||,G|intron_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001161403.1|protein_coding|4/9|c.359+48T>C||||||,G|intron_variant|MODIFIER|LIMS2|LIMS2|transcript|NM_001161404.1|protein_coding|4/9|c.344+48T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4384;p3_1000G_AF=0.875399;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=14811;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.8698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128411950;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8783;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3551,855;ESP6500_AA_GTC=1435,681,87;ESP6500_CDS_SIZES=NM_017980.4:1098,NM_001161404.1:1011,NM_001161403.1:1026,NM_001136037.2:1092;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=42;ESP6500_EA_AC=7434,1166;ESP6500_EA_GTC=3222,990,88;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017980.4:intron,NM_001161404.1:intron,NM_001161403.1:intron,NM_001136037.2:intron;ESP6500_GL=LIMS2;ESP6500_GRCh38_POSITION=2:127654376;ESP6500_GTC=4657,1671,175;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017980.4:c.431+48T>C,NM_001161404.1:c.344+48T>C,NM_001161403.1:c.359+48T>C,NM_001136037.2:c.425+48T>C;ESP6500_MAF=13.5581,19.4054,15.539;ESP6500_TAC=10985,2021	GT:AD:DP:GQ:PL	1/1:0,16:16:48:513,48,0
chr2	127769005	rs143186338	T	TTAAA	186.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.41;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs143186338,rs200939041;dbSNPBuildID=134;ANN=TTAAA|splice_region_variant&intron_variant|LOW|WDR33|WDR33|transcript|NM_018383.4|protein_coding|2/21|c.205-8_205-5dupTTTA||||||,TTAAA|splice_region_variant&intron_variant|LOW|WDR33|WDR33|transcript|NM_001006623.2|protein_coding|2/7|c.205-8_205-5dupTTTA||||||,TTAAA|splice_region_variant&intron_variant|LOW|WDR33|WDR33|transcript|NM_001006622.2|protein_coding|2/5|c.205-8_205-5dupTTTA||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:224,15,0
chr2	127770692	rs200391491;rs55641967;rs777027494	AAAAT	A	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55641967,rs200391491;dbSNPBuildID=137,144,129;ANN=A|intron_variant|MODIFIER|WDR33|WDR33|transcript|NM_018383.4|protein_coding|2/21|c.204+82_204+85delATTT||||||,A|intron_variant|MODIFIER|WDR33|WDR33|transcript|NM_001006623.2|protein_coding|2/7|c.204+82_204+85delATTT||||||,A|intron_variant|MODIFIER|WDR33|WDR33|transcript|NM_001006622.2|protein_coding|2/5|c.204+82_204+85delATTT||||||;p3_1000G_AC=4615;p3_1000G_AF=0.921526;p3_1000G_AFR_AF=0.8843;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=10911;p3_1000G_EAS_AF=0.9325;p3_1000G_EUR_AF=0.9245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128528266;p3_1000G_GRCH37_REF=AAAAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0
chr2	127850440	rs1170968425	CAA	C	13.91	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.598;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.598;SOR=2.093;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|POLR2D|POLR2D|transcript|NM_004805.3|protein_coding|3/3|c.350+148_350+149delTT||||||	GT:AD:DP:GQ:PL	0/1:3,3:6:51:51,0,71
chr2	127945676	.	A	G	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|SAP130|SAP130|transcript|NM_001145928.1|protein_coding|18/20|c.2876-117T>C||||||,G|intron_variant|MODIFIER|SAP130|SAP130|transcript|NM_024545.3|protein_coding|17/19|c.2771-117T>C||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:30:68,0,30
chr2	127987006	rs2948068	A	G	452.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.34;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2948068;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|SAP130|SAP130|transcript|NM_001145928.1|protein_coding|13/20|c.1859-44T>C||||||,G|intron_variant|MODIFIER|SAP130|SAP130|transcript|NM_024545.3|protein_coding|13/19|c.1859-44T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3521;p3_1000G_AF=0.703075;p3_1000G_AFR_AF=0.4682;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=21706;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.8926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128744580;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2247,2159;ESP6500_AA_AGE=589.2+/-387.1;ESP6500_AA_GTC=613,1021,569;ESP6500_CDS_SIZES=NM_024545.3:3147,NM_001145928.1:3252;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=36;ESP6500_EA_AC=7598,1002;ESP6500_EA_AGE=766.2+/-407.6;ESP6500_EA_GTC=3368,862,70;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024545.3:intron,NM_001145928.1:intron;ESP6500_GL=SAP130;ESP6500_GRCh38_POSITION=2:127987006;ESP6500_GTC=3981,1883,639;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024545.3:c.1859-44T>C,NM_001145928.1:c.1859-44T>C;ESP6500_MAF=11.6512,49.0014,24.3042;ESP6500_TAC=9845,3161	GT:AD:DP:GQ:PL	1/1:0,14:14:42:481,42,0
chr2	127996280	rs1550174	T	C	877.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1550174;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|SAP130|SAP130|transcript|NM_001145928.1|protein_coding|11/20|c.1433+70A>G||||||,C|intron_variant|MODIFIER|SAP130|SAP130|transcript|NM_024545.3|protein_coding|11/19|c.1433+70A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4706;p3_1000G_AF=0.939696;p3_1000G_AFR_AF=0.7973;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=21667;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128753854;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:906,78,0
chr2	128000230	rs10928793	C	T	1743.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=0.773;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10928793;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SAP130|SAP130|transcript|NM_001145928.1|protein_coding|8/20|c.1095+77G>A||||||,T|intron_variant|MODIFIER|SAP130|SAP130|transcript|NM_024545.3|protein_coding|8/19|c.1095+77G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3887;p3_1000G_AF=0.776158;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=22845;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128757804;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1772,150,0
chr2	128091109	rs6759175	G	T	91.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6759175;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding||c.-249G>T|||||71|,T|upstream_gene_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene||n.-99G>T|||||99|,T|intergenic_region|MODIFIER|SAP130-UGGT1|SAP130-UGGT1|intergenic_region|SAP130-UGGT1|||n.128091109G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4118;p3_1000G_AF=0.822284;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=15637;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128848683;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:119,9,0
chr2	128091540	rs4476299	T	C	743.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.34;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4476299;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding|1/40|c.58+125T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene|1/41|n.333T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4181;p3_1000G_AF=0.834864;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=17735;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128849114;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:772,69,0
chr2	128097693	rs10928803	T	C	448.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.96;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10928803;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding|2/40|c.194+129T>C||||||,C|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene|2/40|n.525+129T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4181;p3_1000G_AF=0.834864;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=18149;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128855267;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:477,33,0
chr2	128113234	rs4662775	T	C	764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.32;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4662775;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding|6/41|c.672T>C|p.Asn224Asn|850/10779|672/4668|224/1555||,C|non_coding_transcript_exon_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene|6/41|n.1003T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4123;p3_1000G_AF=0.823283;p3_1000G_AFR_AF=0.6543;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=15404;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.9801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128870808;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3196,1210;ESP6500_AA_AGE=702.3+/-406.9;ESP6500_AA_GTC=1174,848,181;ESP6500_CDS_SIZES=NM_020120.3:4668;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=60;ESP6500_EA_AC=8374,226;ESP6500_EA_AGE=807.5+/-407.2;ESP6500_EA_GTC=4078,218,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020120.3:coding-synonymous;ESP6500_GL=UGGT1;ESP6500_GRCh38_POSITION=2:128113234;ESP6500_GTC=5252,1066,185;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020120.3:c.672T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020120.3:p.(N224);ESP6500_MAF=2.6279,27.4626,11.0411;ESP6500_TAC=11570,1436	GT:AD:DP:GQ:PL	1/1:0,27:27:81:793,81,0
chr2	128120263	rs4662593	G	C	649.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4662593;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding|8/40|c.873-93G>C||||||,C|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene|8/40|n.1204-93G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4181;p3_1000G_AF=0.834864;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=17234;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128877837;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:678,54,0
chr2	128120440	rs4662594	G	A	1719.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4662594;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding|9/41|c.957G>A|p.Lys319Lys|1135/10779|957/4668|319/1555||,A|non_coding_transcript_exon_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene|9/41|n.1288G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4181;p3_1000G_AF=0.834864;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=16176;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.9801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128878014;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3322,1084;ESP6500_AA_AGE=390.0+/-327.5;ESP6500_AA_GTC=1261,800,142;ESP6500_CDS_SIZES=NM_020120.3:4668;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=169;ESP6500_EA_AC=8377,223;ESP6500_EA_AGE=93.3+/-155.3;ESP6500_EA_GTC=4080,217,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020120.3:coding-synonymous;ESP6500_GL=UGGT1;ESP6500_GRCh38_POSITION=2:128120440;ESP6500_GTC=5341,1017,145;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020120.3:c.957G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020120.3:p.(K319);ESP6500_MAF=2.593,24.6028,10.0492;ESP6500_TAC=11699,1307	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1748,168,0
chr2	128121093	rs6430990	T	C	363.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.07;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6430990;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding|9/40|c.974-106T>C||||||,C|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene|9/40|n.1305-106T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4181;p3_1000G_AF=0.834864;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=19002;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128878667;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:392,33,0
chr2	128123325	rs4480941	T	A	245.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.72;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4480941;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding|11/40|c.1134+79T>A||||||,A|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene|11/40|n.1465+79T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4120;p3_1000G_AF=0.822684;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=17502;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128880899;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:274,24,0
chr2	128133304	rs34066685;rs397692496	T	TG	857.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.53;SOR=2.124;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34066685;dbSNPBuildID=126,138;ANN=TG|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NM_020120.3|protein_coding|14/40|c.1497+45dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|UGGT1|UGGT1|transcript|NR_027671.2|pseudogene|14/40|n.1828+45dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=2868;p3_1000G_AF=0.572684;p3_1000G_AFR_AF=0.5915;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=16847;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.5885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=128890878;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=INDEL;ESP6500_AA_AC=2581,1685;ESP6500_AA_GTC=793,995,345;ESP6500_CDS_SIZES=NM_020120.3:4668;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=97;ESP6500_EA_AC=4728,3526;ESP6500_EA_GTC=1339,2050,738;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020120.3:intron;ESP6500_GL=UGGT1;ESP6500_GRCh38_POSITION=2:128133304;ESP6500_GTC=2132,3045,1083;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020120.3:c.1497+44_1497+45insG;ESP6500_MAF=42.7187,39.4984,41.6214;ESP6500_TAC=7309,5211	GT:AD:DP:GQ:PL	1/1:0,24:24:72:895,72,0
chr2	128318303	rs200979099	G	T	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.608;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=3.905;MLEAC=1;MLEAF=0.5;MQ=40.93;MQRankSum=-1.218;QD=0.3;ReadPosRankSum=2.46;SOR=0.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200979099;dbSNPBuildID=137;ANN=T|missense_variant|MODERATE|HS6ST1|HS6ST1|transcript|NM_004807.2|protein_coding|1/2|c.261C>A|p.Asp87Glu|295/3952|261/1236|87/411||	GT:AD:DP:GQ:PL	0/1:39,7:46:42:42,0,1054
chr2	128318387	rs1133923	T	C	701.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.277;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=8.439;MLEAC=1;MLEAF=0.5;MQ=50.08;MQRankSum=-4.966;QD=14.32;ReadPosRankSum=0.498;SOR=0.526;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61732881;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|HS6ST1|HS6ST1|transcript|NM_004807.2|protein_coding|1/2|c.177A>G|p.Thr59Thr|211/3952|177/1236|59/411||;p3_1000G_AA=C|||;p3_1000G_AC=3623;p3_1000G_AF=0.723442;p3_1000G_AFR_AF=0.8971;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs61732881;p3_1000G_DP=8563;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.6044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=129075961;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,29:49:99:730,0,454
chr2	129980590	rs4662674	G	A	4070.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=133;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.91;QD=30.61;SOR=1.312;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs144773989;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|RAB6C|RAB6C|transcript|NM_032144.2|protein_coding|1/1|c.475G>A|p.Ala159Thr|929/3077|475/765|159/254||,A|upstream_gene_variant|MODIFIER|RAB6C-AS1|RAB6C-AS1|transcript|NR_036537.1|pseudogene||n.-118C>T|||||118|;p3_1000G_AA=.|||;p3_1000G_AC=2890;p3_1000G_AF=0.577077;p3_1000G_AFR_AF=0.3366;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs144773989;p3_1000G_DP=23155;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.6928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130738163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4099,398,0
chr2	129992873	rs199529770	C	A	648.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.931;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=4.519;MLEAC=1;MLEAF=0.5;MQ=38.36;MQRankSum=-0.629;QD=14.42;ReadPosRankSum=-0.217;SOR=1.333;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199529770;dbSNPBuildID=137;ANN=A|intergenic_region|MODIFIER|RAB6C-FAR2P1|RAB6C-FAR2P1|intergenic_region|RAB6C-FAR2P1|||n.129992873C>A||||||	GT:AD:DP:GQ:PL	0/1:17,28:45:99:677,0,412
chr2	130074612	rs62165870	G	A	444.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.409;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=28.31;MQRankSum=-2.704;QD=14.35;ReadPosRankSum=-0.024;SOR=0.852;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202181461;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|17/17|c.2860C>T|p.Arg954Trp|3260/4337|2860/3228|954/1075||;p3_1000G_AA=.|||;p3_1000G_AC=2933;p3_1000G_AF=0.585663;p3_1000G_AFR_AF=0.6074;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=20867;p3_1000G_EAS_AF=0.506;p3_1000G_EUR_AF=0.5865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130832185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,19:31:99:473,0,278
chr2	130074683	rs376938834	A	G	525.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.05;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=58.685;MLEAC=1;MLEAF=0.5;MQ=30.08;MQRankSum=4.03;QD=8.09;ReadPosRankSum=-3.467;SOR=6.357;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376938834;dbSNPBuildID=138;ANN=G|missense_variant|MODERATE|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|17/17|c.2789T>C|p.Val930Ala|3189/4337|2789/3228|930/1075||	GT:AD:DP:GQ:PL	0/1:42,23:65:99:554,0,853
chr2	130074719	rs62165871	T	A	203.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.628;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=18.499;MLEAC=1;MLEAF=0.5;MQ=34.16;MQRankSum=-4.29;QD=2.58;ReadPosRankSum=2.32;SOR=1.308;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75775141;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|17/17|c.2753A>T|p.Tyr918Phe|3153/4337|2753/3228|918/1075||	GT:AD:DP:GQ:PL	0/1:61,18:79:99:232,0,1610
chr2	130074785	rs2599793	T	C	115.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=98;ExcessHet=3.0103;FS=64.595;MLEAC=1;MLEAF=0.5;MQ=39.35;MQRankSum=-5.772;QD=1.18;ReadPosRankSum=-4.091;SOR=5.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201946437;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|17/17|c.2687A>G|p.His896Arg|3087/4337|2687/3228|896/1075||	GT:AD:DP:GQ:PL	0/1:83,15:98:99:144,0,2222
chr2	130074871	rs2599794	C	T	1569.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.847;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=4.47;MLEAC=1;MLEAF=0.5;MQ=49.85;MQRankSum=0.174;QD=13.42;ReadPosRankSum=-0.123;SOR=0.915;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|17/17|c.2601G>A|p.Glu867Glu|3001/4337|2601/3228|867/1075||;p3_1000G_AA=.|||;p3_1000G_AC=22;p3_1000G_AF=0.00439297;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14867;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130832444;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1598,0,1508
chr2	130075586	rs2122979	G	A	287.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.899;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.68;MQRankSum=-0.609;QD=19.18;ReadPosRankSum=-0.772;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200326162;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|16/16|c.1900-14C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1285;p3_1000G_AF=0.256589;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=18800;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.3887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130833159;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,11:15:99:316,0,125
chr2	130115218	rs200596208	A	G	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=6.697;MLEAC=1;MLEAF=0.5;MQ=39.87;MQRankSum=-4.902;QD=0.17;ReadPosRankSum=-1.424;SOR=1.71;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200596208;dbSNPBuildID=137;ANN=G|missense_variant|MODERATE|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|4/17|c.632T>C|p.Ile211Thr|1032/4337|632/3228|211/1075||	GT:AD:DP:GQ:PL	0/1:70,11:81:42:42,0,1843
chr2	130115383	rs200901373	G	T	216.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.543;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.94;MQRankSum=-2.236;QD=7.23;ReadPosRankSum=-1.888;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200901373;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|3/16|c.522-55C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,9:30:99:0|1:130115383_G_T:245,0,1336
chr2	130115391	rs202038914	T	A	150.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.736;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.87;MQRankSum=-3.115;QD=6.03;ReadPosRankSum=-0.158;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202038914;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|3/16|c.522-63A>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,5:25:99:0|1:130115383_G_T:179,0,1317
chr2	130115394	rs1445088253	T	C	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.61;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.32;MQRankSum=-3.158;QD=5.07;ReadPosRankSum=-0.382;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|3/16|c.522-66A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,5:24:99:0|1:130115383_G_T:150,0,1320
chr2	130115395	rs1211901921	G	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.73;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.93;MQRankSum=-2.809;QD=5.29;ReadPosRankSum=0.498;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|intron_variant|MODIFIER|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|3/16|c.522-67C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,4:23:99:0|1:130115383_G_T:150,0,1320
chr2	130115399	rs1243378585	C	T	91.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.873;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.28;MQRankSum=-2.538;QD=4.83;ReadPosRankSum=-0.472;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|POTEF|POTEF|transcript|NM_001099771.2|protein_coding|3/16|c.522-71G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,4:19:99:0|1:130115383_G_T:120,0,1069
chr2	130139482	rs28751929	G	A	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.411;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.21;MQRankSum=-0.088;QD=15.93;ReadPosRankSum=0.55;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28751929;dbSNPBuildID=125;ANN=A|3_prime_UTR_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_207310.2|protein_coding|8/8|c.*73C>T|||||73|,A|3_prime_UTR_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_001258307.1|protein_coding|8/8|c.*73C>T|||||73|,A|downstream_gene_variant|MODIFIER|MED15P9|MED15P9|transcript|NR_033903.1|pseudogene||n.*69G>A|||||69|;p3_1000G_AA=.|||;p3_1000G_AC=3795;p3_1000G_AF=0.757788;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=18113;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130897055;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,19:33:99:554,0,427
chr2	130139661	rs3177472	C	T	734.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.807;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=1.54;SOR=0.903;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3177472;dbSNPBuildID=123;ANN=T|missense_variant|MODERATE|CCDC74B|CCDC74B|transcript|NM_207310.2|protein_coding|8/8|c.1037G>A|p.Arg346His|1175/1553|1037/1143|346/380||,T|missense_variant|MODERATE|CCDC74B|CCDC74B|transcript|NM_001258307.1|protein_coding|8/8|c.839G>A|p.Arg280His|977/1355|839/945|280/314||,T|downstream_gene_variant|MODIFIER|MED15P9|MED15P9|transcript|NR_033903.1|pseudogene||n.*248C>T|||||248|;p3_1000G_AA=.|||;p3_1000G_AC=1873;p3_1000G_AF=0.374002;p3_1000G_AFR_AF=0.2655;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=16507;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.3489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130897234;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1297,3105;ESP6500_AA_GTC=182,933,1086;ESP6500_CDS_SIZES=NM_207310.2:1143,NM_001258307.1:945;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=36;ESP6500_EA_AC=3129,5469;ESP6500_EA_GTC=573,1983,1743;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207310.2:missense,NM_001258307.1:missense;ESP6500_GL=CCDC74B;ESP6500_GRCh38_POSITION=2:130139661;ESP6500_GS=29,29;ESP6500_GTC=755,2916,2829;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207310.2:c.1037G>A,NM_001258307.1:c.839G>A;ESP6500_HGVS_PROTEIN_VAR=NM_207310.2:p.(R346H),NM_001258307.1:p.(R280H);ESP6500_MAF=36.3922,29.4639,34.0462;ESP6500_PH=possibly-damaging:0.917,possibly-damaging:0.917;ESP6500_TAC=4426,8574	GT:AD:DP:GQ:PL	0/1:43,32:75:99:763,0,1139
chr2	130139986	rs2258632	C	A	53.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.685;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=3.873;MLEAC=1;MLEAF=0.5;MQ=51.67;MQRankSum=-3.53;QD=1.31;ReadPosRankSum=-1.706;SOR=1.253;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2258632;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|MED15P9|MED15P9|transcript|NR_033903.1|pseudogene||n.*573C>A|||||573|,A|intron_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_207310.2|protein_coding|6/7|c.950+37G>T||||||,A|intron_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_001258307.1|protein_coding|6/7|c.752+37G>T||||||	GT:AD:DP:GQ:PL	0/1:35,6:41:82:82,0,1091
chr2	130140047	rs2259332	A	G	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.03;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=11.224;MLEAC=1;MLEAF=0.5;MQ=56.1;MQRankSum=-6.035;QD=5.83;ReadPosRankSum=1.06;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76485676;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|CCDC74B|CCDC74B|transcript|NM_207310.2|protein_coding|6/8|c.926T>C|p.Val309Ala|1064/1553|926/1143|309/380||,G|missense_variant|MODERATE|CCDC74B|CCDC74B|transcript|NM_001258307.1|protein_coding|6/8|c.728T>C|p.Val243Ala|866/1355|728/945|243/314||,G|downstream_gene_variant|MODIFIER|MED15P9|MED15P9|transcript|NR_033903.1|pseudogene||n.*634A>G|||||634|;p3_1000G_AA=.|||;p3_1000G_AC=1822;p3_1000G_AF=0.363818;p3_1000G_AFR_AF=0.3351;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=12901;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.3032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130897620;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:37,12:49:99:314,0,1007
chr2	130142231	rs2599972	T	C	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=6.52;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=1.673;MLEAC=1;MLEAF=0.5;MQ=50.31;MQRankSum=-8.487;QD=5.3;ReadPosRankSum=-1.022;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138331089;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|CCDC74B|CCDC74B|transcript|NM_207310.2|protein_coding|3/8|c.446A>G|p.His149Arg|584/1553|446/1143|149/380||,C|downstream_gene_variant|MODIFIER|MED15P9|MED15P9|transcript|NR_033903.1|pseudogene||n.*2818T>C|||||2818|,C|intron_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_001258307.1|protein_coding|2/7|c.296-48A>G||||||	GT:AD:DP:GQ:PL	0/1:89,32:121:99:670,0,2177
chr2	130144494	rs60089935	C	T	604.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.501;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.87;MQRankSum=-6.607;QD=12.34;ReadPosRankSum=-0.885;SOR=0.681;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60089935;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_207310.2|protein_coding|1/7|c.250+253G>A||||||,T|intron_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_001258307.1|protein_coding|1/7|c.250+253G>A||||||	GT:AD:DP:GQ:PL	0/1:27,22:49:99:633,0,742
chr2	130144621	rs2292302	C	T	516.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.305;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.31;MQRankSum=-1.115;QD=11.74;ReadPosRankSum=0.124;SOR=0.715;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60152285;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_207310.2|protein_coding|1/7|c.250+126G>A||||||,T|intron_variant|MODIFIER|CCDC74B|CCDC74B|transcript|NM_001258307.1|protein_coding|1/7|c.250+126G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2222;p3_1000G_AF=0.44369;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs60152285;p3_1000G_DP=14089;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130902194;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,21:44:99:545,0,631
chr2	130144976	rs34080706	C	T	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.152;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=3.245;MLEAC=1;MLEAF=0.5;MQ=41.4;MQRankSum=0.707;QD=10.88;ReadPosRankSum=-0.58;SOR=0.155;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34080706;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|CCDC74B|CCDC74B|transcript|NM_207310.2|protein_coding|1/8|c.21G>A|p.Ala7Ala|159/1553|21/1143|7/380||,T|synonymous_variant|LOW|CCDC74B|CCDC74B|transcript|NM_001258307.1|protein_coding|1/8|c.21G>A|p.Ala7Ala|159/1355|21/945|7/314||;p3_1000G_AA=.|||;p3_1000G_AC=1804;p3_1000G_AF=0.360224;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=10883;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.3419;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130902549;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:235,0,307
chr2	130153274	rs4511676	G	A	712.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.216;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=8.391;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.434;SOR=1.672;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4511676;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017951.4|protein_coding|18/19|c.2142+45C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_001171083.2|protein_coding|15/16|c.1836+45C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017751.4|protein_coding|17/18|c.2055+45C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033231.2|pseudogene|17/18|n.2155+45C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033232.2|pseudogene|16/17|n.2135+45C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033230.2|pseudogene|18/19|n.3291+45C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1950;p3_1000G_AF=0.389377;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=16663;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.3469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130910847;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1553,2853;ESP6500_AA_GTC=276,1001,926;ESP6500_CDS_SIZES=NM_017951.4:2601,NM_017751.4:2514,NM_001171083.2:2295;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=48;ESP6500_EA_AC=3114,5486;ESP6500_EA_GTC=570,1974,1756;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017951.4:intron,NM_017751.4:intron,NM_001171083.2:intron;ESP6500_GL=SMPD4;ESP6500_GRCh38_POSITION=2:130153274;ESP6500_GTC=846,2975,2682;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017951.4:c.2142+45C>T,NM_017751.4:c.2055+45C>T,NM_001171083.2:c.1836+45C>T;ESP6500_MAF=36.2093,35.2474,35.8834;ESP6500_TAC=4667,8339	GT:AD:DP:GQ:PL	0/1:43,29:72:99:741,0,1139
chr2	130157082	rs13024697	G	A	21.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.8;MQRankSum=0.253;QD=3.63;ReadPosRankSum=-0.842;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13024697;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017951.4|protein_coding|12/19|c.1214+169C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_001171083.2|protein_coding|9/16|c.908+169C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017751.4|protein_coding|11/18|c.1127+169C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033231.2|pseudogene|11/18|n.1227+169C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033232.2|pseudogene|10/17|n.1207+169C>T||||||,A|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033230.2|pseudogene|12/19|n.2363+169C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1801;p3_1000G_AF=0.359625;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=20035;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130914655;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:50:50,0,130
chr2	130157224	rs2290296	T	C	249.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.46;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=38.43;MQRankSum=1.09;QD=15.61;ReadPosRankSum=-1.192;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145477722;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017951.4|protein_coding|12/19|c.1214+27A>G||||||,C|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_001171083.2|protein_coding|9/16|c.908+27A>G||||||,C|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017751.4|protein_coding|11/18|c.1127+27A>G||||||,C|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033231.2|pseudogene|11/18|n.1227+27A>G||||||,C|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033232.2|pseudogene|10/17|n.1207+27A>G||||||,C|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033230.2|pseudogene|12/19|n.2363+27A>G||||||	GT:AD:DP:GQ:PL	0/1:8,8:16:99:278,0,221
chr2	130167515	rs10909567	C	T	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.879;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=5.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.672;SOR=0.497;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10909567;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|SMPD4|SMPD4|transcript|NM_017951.4|protein_coding|9/20|c.852G>A|p.Thr284Thr|1008/3920|852/2601|284/866||,T|synonymous_variant|LOW|SMPD4|SMPD4|transcript|NM_001171083.2|protein_coding|7/17|c.633G>A|p.Thr211Thr|789/3614|633/2295|211/764||,T|synonymous_variant|LOW|SMPD4|SMPD4|transcript|NM_017751.4|protein_coding|9/19|c.852G>A|p.Thr284Thr|1008/3833|852/2514|284/837||,T|non_coding_transcript_exon_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033231.2|pseudogene|8/19|n.865G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033232.2|pseudogene|8/18|n.932G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033230.2|pseudogene|9/20|n.2001G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1802;p3_1000G_AF=0.359824;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=16090;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130925088;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1155,3251;ESP6500_AA_GTC=150,855,1198;ESP6500_CDS_SIZES=NM_017951.4:2601,NM_017751.4:2514,NM_001171083.2:2295;ESP6500_CG=-6.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=83;ESP6500_EA_AC=3096,5504;ESP6500_EA_GTC=561,1974,1765;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017951.4:coding-synonymous,NM_017751.4:coding-synonymous,NM_001171083.2:coding-synonymous;ESP6500_GL=SMPD4;ESP6500_GRCh38_POSITION=2:130167515;ESP6500_GTC=711,2829,2963;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017951.4:c.852G>A,NM_017751.4:c.852G>A,NM_001171083.2:c.633G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017951.4:p.(T284),NM_017751.4:p.(T284),NM_001171083.2:p.(T211);ESP6500_MAF=36.0,26.2143,32.6849;ESP6500_TAC=4251,8755	GT:AD:DP:GQ:PL	0/1:30,30:60:99:678,0,785
chr2	130173246	rs2290295;rs60309319	C	T	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.505;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=46.47;MQRankSum=0.732;QD=11.64;ReadPosRankSum=1.51;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60309319;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017951.4|protein_coding|5/19|c.462+33G>A||||||,T|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_001171083.2|protein_coding|3/16|c.244-351G>A||||||,T|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017751.4|protein_coding|5/18|c.462+33G>A||||||,T|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033231.2|pseudogene|4/18|n.475+33G>A||||||,T|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033232.2|pseudogene|4/17|n.542+268G>A||||||,T|intron_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033230.2|pseudogene|5/19|n.1611+33G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1802;p3_1000G_AF=0.359824;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs60309319;p3_1000G_DP=20010;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130930819;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1164,3242;ESP6500_AA_AGE=400.4+/-331.6;ESP6500_AA_GTC=157,850,1196;ESP6500_CDS_SIZES=NM_017951.4:2601,NM_017751.4:2514,NM_001171083.2:2295;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=59;ESP6500_EA_AC=3095,5505;ESP6500_EA_AGE=467.7+/-367.1;ESP6500_EA_GTC=563,1969,1768;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017951.4:intron,NM_017751.4:intron,NM_001171083.2:intron;ESP6500_GL=SMPD4;ESP6500_GRCh38_POSITION=2:130173246;ESP6500_GTC=720,2819,2964;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017951.4:c.462+33G>A,NM_017751.4:c.462+33G>A,NM_001171083.2:c.244-351G>A;ESP6500_MAF=35.9884,26.4185,32.7464;ESP6500_TAC=4259,8747	GT:AD:DP:GQ:PL	0/1:14,12:26:99:331,0,371
chr2	130181715	rs1968676	A	G	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.279;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=-0.784;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1968676;dbSNPBuildID=92;ANN=G|5_prime_UTR_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017951.4|protein_coding|1/20|c.-114T>C|||||114|,G|5_prime_UTR_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_001171083.2|protein_coding|1/17|c.-114T>C|||||114|,G|5_prime_UTR_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017751.4|protein_coding|1/19|c.-114T>C|||||114|,G|upstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.-568A>G|||||213|,G|non_coding_transcript_exon_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033231.2|pseudogene|1/19|n.43T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033232.2|pseudogene|1/18|n.43T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033230.2|pseudogene|1/20|n.1036T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2410;p3_1000G_AF=0.48123;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=11197;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130939288;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,18:51:99:356,0,773
chr2	130181775	rs1817097	G	A	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.073;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-0.399;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1817097;dbSNPBuildID=92;ANN=A|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017951.4|protein_coding||c.-174C>T|||||18|,A|upstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.-508G>A|||||153|,A|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_001171083.2|protein_coding||c.-174C>T|||||18|,A|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017751.4|protein_coding||c.-174C>T|||||18|,A|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033231.2|pseudogene||n.-18C>T|||||18|,A|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033232.2|pseudogene||n.-18C>T|||||18|,A|non_coding_transcript_exon_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033230.2|pseudogene|1/20|n.976C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1804;p3_1000G_AF=0.360224;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=10400;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130939348;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,11:34:99:259,0,723
chr2	130182517	rs1968675	G	T	474.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.24;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=0.867;SOR=0.435;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1968675;dbSNPBuildID=92;ANN=T|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017951.4|protein_coding||c.-916C>A|||||760|,T|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_001171083.2|protein_coding||c.-916C>A|||||760|,T|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NM_017751.4|protein_coding||c.-916C>A|||||760|,T|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033231.2|pseudogene||n.-760C>A|||||760|,T|upstream_gene_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033232.2|pseudogene||n.-760C>A|||||760|,T|intron_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding|1/2|c.170+65G>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|SMPD4|SMPD4|transcript|NR_033230.2|pseudogene|1/20|n.234C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1803;p3_1000G_AF=0.360024;p3_1000G_AFR_AF=0.2095;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=9227;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130940090;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,15:30:99:503,0,417
chr2	130190275	rs3856377	C	T	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.524;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3856377;dbSNPBuildID=108;ANN=T|downstream_gene_variant|MODIFIER|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding||c.*1556G>A|||||1470|,T|intron_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding|2/2|c.320-194C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1999;p3_1000G_AF=0.399161;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=21356;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130947848;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:71:71,0,71
chr2	130190314	rs1975671	G	C	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.703;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.55;ReadPosRankSum=0.247;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1975671;dbSNPBuildID=92;ANN=C|downstream_gene_variant|MODIFIER|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding||c.*1517C>G|||||1431|,C|intron_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding|2/2|c.320-155G>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1852;p3_1000G_AF=0.369808;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=20981;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130947887;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4448;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:92:92,0,354
chr2	130190730	rs12612244	T	C	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=4.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.984;SOR=2.17;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12612244;dbSNPBuildID=120;ANN=C|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*104T>C|||||3|,C|downstream_gene_variant|MODIFIER|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding||c.*1101A>G|||||1015|,C|intergenic_region|MODIFIER|MZT2B-TUBA3E|MZT2B-TUBA3E|intergenic_region|MZT2B-TUBA3E|||n.130190730T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2090;p3_1000G_AF=0.417332;p3_1000G_AFR_AF=0.3782;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=15766;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130948303;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,13:31:99:396,0,718
chr2	130191730	rs10200523	T	C	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.183;SOR=1.201;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10200523;dbSNPBuildID=119;ANN=C|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*1104T>C|||||1003|,C|downstream_gene_variant|MODIFIER|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding||c.*101A>G|||||15|,C|intergenic_region|MODIFIER|MZT2B-TUBA3E|MZT2B-TUBA3E|intergenic_region|MZT2B-TUBA3E|||n.130191730T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.6498;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=16866;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130949303;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4438;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:280,0,255
chr2	130191838	rs10208844	G	T	1914.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.95;QD=31.39;SOR=1.197;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10208844;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|5/5|c.1346C>A|p.Ala449Glu|1447/1540|1346/1353|449/450||,T|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*1212G>T|||||1111|;p3_1000G_AA=.|||;p3_1000G_AC=4905;p3_1000G_AF=0.979433;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=17249;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130949411;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4337,69;ESP6500_AA_GTC=2134,69,0;ESP6500_CDS_SIZES=NM_207312.2:1353;ESP6500_CG=2.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=70;ESP6500_EA_AC=7984,610;ESP6500_EA_GTC=3715,554,28;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207312.2:missense;ESP6500_GL=TUBA3E;ESP6500_GRCh38_POSITION=2:130191838;ESP6500_GS=107;ESP6500_GTC=5849,623,28;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_207312.2:c.1346C>A;ESP6500_HGVS_PROTEIN_VAR=NM_207312.2:p.(A449E);ESP6500_MAF=7.098,1.566,5.2231;ESP6500_PH=benign:0.0;ESP6500_TAC=12321,679	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1943,183,0
chr2	130191918	rs60154251	G	A	818.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.812;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=1.955;MLEAC=1;MLEAF=0.5;MQ=50.45;MQRankSum=-4.203;QD=11.53;ReadPosRankSum=-1.22;SOR=0.885;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60154251;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|5/5|c.1266C>T|p.Arg422Arg|1367/1540|1266/1353|422/450||,A|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*1292G>A|||||1191|;ESP6500_AA=G;ESP6500_AA_AC=1579,2827;ESP6500_AA_AGE=492.0+/-362.3;ESP6500_AA_GTC=286,1007,910;ESP6500_CDS_SIZES=NM_207312.2:1353;ESP6500_CG=-5.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=129;ESP6500_EA_AC=3354,5246;ESP6500_EA_AGE=497.4+/-374.5;ESP6500_EA_GTC=654,2046,1600;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207312.2:coding-synonymous;ESP6500_GL=TUBA3E;ESP6500_GRCh38_POSITION=2:130191918;ESP6500_GTC=940,3053,2510;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207312.2:c.1266C>T;ESP6500_HGVS_PROTEIN_VAR=NM_207312.2:p.(R422);ESP6500_MAF=39.0,35.8375,37.9286;ESP6500_TAC=4933,8073	GT:AD:DP:GQ:PL	0/1:35,36:71:99:847,0,925
chr2	130191980	rs1052422	A	G	602.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.98;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=3.431;MLEAC=1;MLEAF=0.5;MQ=52.77;MQRankSum=-7.258;QD=8.86;ReadPosRankSum=-0.293;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052422;dbSNPBuildID=103;ANN=G|missense_variant|MODERATE|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|5/5|c.1204T>C|p.Trp402Arg|1305/1540|1204/1353|402/450||,G|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*1354A>G|||||1253|;ESP6500_AA=G;ESP6500_AA_AC=758,3648;ESP6500_AA_GTC=300,158,1745;ESP6500_CDS_SIZES=NM_207312.2:1353;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=118;ESP6500_EA_AC=1487,7099;ESP6500_EA_GTC=555,377,3361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207312.2:missense;ESP6500_GL=TUBA3E;ESP6500_GRCh38_POSITION=2:130191980;ESP6500_GS=101;ESP6500_GTC=855,535,5106;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207312.2:c.1204T>C;ESP6500_HGVS_PROTEIN_VAR=NM_207312.2:p.(W402R);ESP6500_MAF=17.3189,17.2038,17.2799;ESP6500_PH=benign:0.0;ESP6500_TAC=2245,10747	GT:AD:DP:GQ:PL	0/1:45,23:68:99:631,0,1151
chr2	130193975	rs1052319	G	A	3465.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=101;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.63;QD=34.31;SOR=1.247;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052319;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|4/5|c.867C>T|p.Ala289Ala|968/1540|867/1353|289/450||,A|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3349G>A|||||3248|	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3494,304,0
chr2	130193993	rs7340193	G	A	3211.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.66;QD=31.49;SOR=1.212;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7340193;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|4/5|c.849C>T|p.His283His|950/1540|849/1353|283/450||,A|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3367G>A|||||3266|	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3240,304,0
chr2	130194008	rs1052312	A	G	2065.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.595;ClippingRankSum=0;DP=98;ExcessHet=3.0103;FS=1.689;MLEAC=1;MLEAF=0.5;MQ=55.56;MQRankSum=-7.392;QD=21.08;ReadPosRankSum=-0.366;SOR=0.53;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1052312;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|4/5|c.834T>C|p.Ala278Ala|935/1540|834/1353|278/450||,G|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3382A>G|||||3281|;p3_1000G_AA=.|||;p3_1000G_AC=2348;p3_1000G_AF=0.46885;p3_1000G_AFR_AF=0.587;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=21460;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.3628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130951581;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:45,53:98:99:0|1:130194008_A_G:2094,0,1741
chr2	130194011	rs7340507	T	C	2032.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.008;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=1.714;MLEAC=1;MLEAF=0.5;MQ=55.51;MQRankSum=-7.486;QD=20.96;ReadPosRankSum=-0.66;SOR=0.506;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7340507;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|4/5|c.831A>G|p.Ser277Ser|932/1540|831/1353|277/450||,C|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3385T>C|||||3284|;p3_1000G_AA=.|||;p3_1000G_AC=2348;p3_1000G_AF=0.46885;p3_1000G_AFR_AF=0.587;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=20424;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.3628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130951584;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2294,2112;ESP6500_AA_GTC=349,1596,258;ESP6500_CDS_SIZES=NM_207312.2:1353;ESP6500_CG=-5.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=107;ESP6500_EA_AC=3043,5557;ESP6500_EA_GTC=544,1955,1801;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207312.2:coding-synonymous;ESP6500_GL=TUBA3E;ESP6500_GRCh38_POSITION=2:130194011;ESP6500_GTC=893,3551,2059;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207312.2:c.831A>G;ESP6500_HGVS_PROTEIN_VAR=NM_207312.2:p.(S277);ESP6500_MAF=35.3837,47.9346,41.0349;ESP6500_TAC=5337,7669	GT:AD:DP:GQ:PGT:PID:PL	0/1:45,52:97:99:0|1:130194008_A_G:2061,0,1744
chr2	130194181	rs13000249	G	T	773.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=8.455;MLEAC=1;MLEAF=0.5;MQ=47.81;MQRankSum=-0.586;QD=7.23;ReadPosRankSum=-0.715;SOR=1.567;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13000249;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|4/5|c.661C>A|p.Arg221Ser|762/1540|661/1353|221/450||,T|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3555G>T|||||3454|	GT:AD:DP:GQ:PL	0/1:73,34:107:99:802,0,1877
chr2	130194275	rs2259488	T	C	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.23;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.328;MLEAC=1;MLEAF=0.5;MQ=46.43;MQRankSum=-4.956;QD=6.57;ReadPosRankSum=-1.13;SOR=1.058;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2259488;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|4/5|c.567A>G|p.Leu189Leu|668/1540|567/1353|189/450||,C|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3649T>C|||||3548|	GT:AD:DP:GQ:PL	0/1:35,12:47:99:337,0,995
chr2	130194376	rs62165074	G	A	467.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.148;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=46.19;MQRankSum=-5.05;QD=12.31;ReadPosRankSum=-0.566;SOR=0.746;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62165074;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|4/5|c.466C>T|p.Arg156Trp|567/1540|466/1353|156/450||,A|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3750G>A|||||3649|;ESP6500_AA=G;ESP6500_AA_AC=1567,2837;ESP6500_AA_AGE=489.4+/-361.5;ESP6500_AA_GTC=284,999,919;ESP6500_CDS_SIZES=NM_207312.2:1353;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=74;ESP6500_EA_AC=3350,5248;ESP6500_EA_AGE=496.3+/-374.3;ESP6500_EA_GTC=657,2036,1606;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207312.2:missense;ESP6500_GL=TUBA3E;ESP6500_GRCh38_POSITION=2:130194376;ESP6500_GS=101;ESP6500_GTC=941,3035,2525;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207312.2:c.466C>T;ESP6500_HGVS_PROTEIN_VAR=NM_207312.2:p.(R156W);ESP6500_MAF=38.9625,35.5813,37.8173;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=4917,8085	GT:AD:DP:GQ:PL	0/1:18,20:38:99:496,0,517
chr2	130194465	rs13000721	G	A	337.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.554;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.755;MLEAC=1;MLEAF=0.5;MQ=49.7;MQRankSum=-5.751;QD=8.24;ReadPosRankSum=-0.513;SOR=0.965;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13000721;dbSNPBuildID=121;ANN=A|missense_variant&splice_region_variant|MODERATE|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|4/5|c.377C>T|p.Ala126Val|478/1540|377/1353|126/450||,A|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3839G>A|||||3738|	GT:AD:DP:GQ:PL	0/1:24,17:41:99:366,0,709
chr2	130194480	rs2463340	G	C	347.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.278;MLEAC=1;MLEAF=0.5;MQ=51.77;MQRankSum=-6.057;QD=8.69;ReadPosRankSum=0.257;SOR=0.645;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2463340;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3854G>C|||||3753|,C|intron_variant|MODIFIER|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|3/4|c.376-14C>G||||||	GT:AD:DP:GQ:PL	0/1:25,15:40:99:376,0,659
chr2	130194538	rs3828172	G	A	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.599;MLEAC=1;MLEAF=0.5;MQ=54.02;MQRankSum=-4.924;QD=8.7;ReadPosRankSum=-2.067;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62165075;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*3912G>A|||||3811|,A|intron_variant|MODIFIER|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|3/4|c.376-72C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1822;p3_1000G_AF=0.363818;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs62165075;p3_1000G_DP=20987;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130952111;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,13:31:99:298,0,418
chr2	130194967	rs56151061	C	T	474.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.774;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.21;MQRankSum=-0.116;QD=13.19;ReadPosRankSum=-0.436;SOR=0.864;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56151061;dbSNPBuildID=129;ANN=T|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*4341C>T|||||4240|,T|intron_variant|MODIFIER|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|3/4|c.375+112G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2079;p3_1000G_AF=0.415136;p3_1000G_AFR_AF=0.3691;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=22563;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130952540;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4448;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,17:36:99:503,0,565
chr2	130195145	rs3853852	G	A	2155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.717;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.39;MQRankSum=-10.28;QD=16.97;ReadPosRankSum=-1.127;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3853852;dbSNPBuildID=108;ANN=A|synonymous_variant|LOW|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|3/5|c.309C>T|p.Tyr103Tyr|410/1540|309/1353|103/450||,A|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*4519G>A|||||4418|;p3_1000G_AA=.|||;p3_1000G_AC=2070;p3_1000G_AF=0.413339;p3_1000G_AFR_AF=0.3646;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=19312;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130952718;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4448;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:69,58:127:99:0|1:130195145_G_A:2184,0,3724
chr2	130195152	rs3863907	C	T	2114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.251;ClippingRankSum=0;DP=122;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.96;MQRankSum=-10.3;QD=17.33;ReadPosRankSum=-2.115;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3863907;dbSNPBuildID=108;ANN=T|missense_variant|MODERATE|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding|3/5|c.302G>A|p.Ser101Asn|403/1540|302/1353|101/450||,T|downstream_gene_variant|MODIFIER|MZT2B|MZT2B|transcript|NM_025029.3|protein_coding||c.*4526C>T|||||4425|;p3_1000G_AA=.|||;p3_1000G_AC=2731;p3_1000G_AF=0.545327;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=19056;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.3787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130952725;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:66,56:122:99:0|1:130195145_G_A:2143,0,3707
chr2	130202450	rs4663031	T	C	1427.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.237;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=3.674;MLEAC=1;MLEAF=0.5;MQ=56.25;MQRankSum=-4.671;QD=13.86;ReadPosRankSum=0.445;SOR=0.537;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4663031;dbSNPBuildID=111;ANN=C|upstream_gene_variant|MODIFIER|TUBA3E|TUBA3E|transcript|NM_207312.2|protein_coding||c.-4090A>G|||||3989|,C|intergenic_region|MODIFIER|TUBA3E-CCDC115|TUBA3E-CCDC115|intergenic_region|TUBA3E-CCDC115|||n.130202450T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2502;p3_1000G_AF=0.499601;p3_1000G_AFR_AF=0.4123;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=18320;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.3777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=130960023;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1456,0,1160
chr2	130204156	rs201980950;rs55790100;rs573067692	A	AT	171.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.658;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.81;MQRankSum=-0.737;QD=10.73;ReadPosRankSum=-1.202;SOR=0.732;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201980950;dbSNPBuildID=137,142,129;ANN=AT|intergenic_region|MODIFIER|TUBA3E-CCDC115|TUBA3E-CCDC115|intergenic_region|TUBA3E-CCDC115|||n.130204156_130204157insT||||||	GT:AD:DP:GQ:PL	0/1:7,9:16:99:209,0,134
chr2	130212580	rs2443623	C	T	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.33;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.03;MQRankSum=-1.212;QD=23.12;ReadPosRankSum=-0.764;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2443623;dbSNPBuildID=100;ANN=T|intergenic_region|MODIFIER|TUBA3E-CCDC115|TUBA3E-CCDC115|intergenic_region|TUBA3E-CCDC115|||n.130212580C>T||||||	GT:AD:DP:GQ:PL	0/1:2,13:15:28:375,0,28
chr2	130212910	rs201919011	C	CT	170.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.17;MQRankSum=-5.181;QD=3.79;ReadPosRankSum=-0.439;SOR=0.876;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201919011;dbSNPBuildID=137;ANN=CT|intergenic_region|MODIFIER|TUBA3E-CCDC115|TUBA3E-CCDC115|intergenic_region|TUBA3E-CCDC115|||n.130212910_130212911insT||||||	GT:AD:DP:GQ:PL	0/1:32,13:45:99:208,0,742
chr2	130346476	rs11542414	C	T	564.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.244;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-1.562;SOR=0.826;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11542414;dbSNPBuildID=120;ANN=T|3_prime_UTR_variant|MODIFIER|IMP4|IMP4|transcript|NM_033416.2|protein_coding|9/9|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|IMP4|IMP4|transcript|NM_001320304.1|protein_coding|9/9|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|IMP4|IMP4|transcript|NM_001320305.1|protein_coding|9/9|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|IMP4|IMP4|transcript|NM_001320306.1|protein_coding|9/9|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|IMP4|IMP4|transcript|NM_001320307.1|protein_coding|9/9|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|IMP4|IMP4|transcript|NM_001320309.1|protein_coding|8/8|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|IMP4|IMP4|transcript|NM_001320310.1|protein_coding|9/9|c.*8C>T|||||8|,T|3_prime_UTR_variant|MODIFIER|IMP4|IMP4|transcript|NM_001320311.1|protein_coding|9/9|c.*8C>T|||||8|,T|upstream_gene_variant|MODIFIER|CCDC115|CCDC115|transcript|NM_032357.3|protein_coding||c.-4351G>A|||||4093|,T|upstream_gene_variant|MODIFIER|CCDC115|CCDC115|transcript|NM_001321119.1|protein_coding||c.-4565G>A|||||4368|,T|upstream_gene_variant|MODIFIER|CCDC115|CCDC115|transcript|NR_135548.1|pseudogene||n.-4093G>A|||||4093|,T|upstream_gene_variant|MODIFIER|CCDC115|CCDC115|transcript|NM_001321118.1|protein_coding||c.-4247G>A|||||3795|,T|upstream_gene_variant|MODIFIER|CCDC115|CCDC115|transcript|NR_104471.1|pseudogene||n.-3795G>A|||||3795|;p3_1000G_AA=C|||;p3_1000G_AC=1076;p3_1000G_AF=0.214856;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=19304;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131104049;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=338,3986;ESP6500_AA_GTC=12,314,1836;ESP6500_CDS_SIZES=NM_033416.1:876;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=42;ESP6500_EA_AC=957,7497;ESP6500_EA_GTC=55,847,3325;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033416.1:utr-3;ESP6500_GL=IMP4;ESP6500_GRCh38_POSITION=2:130346476;ESP6500_GTC=67,1161,5161;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033416.1:c.*8C>T;ESP6500_MAF=11.3201,7.8168,10.1346;ESP6500_TAC=1295,11483	GT:AD:DP:GQ:PL	0/1:20,22:42:99:593,0,597
chr2	130463291	rs77172375	T	A	17.84	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=25.82;MQRankSum=0.253;QD=3.57;ReadPosRankSum=1.04;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147268452;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|15/15|c.2753A>T|p.Tyr918Phe|2753/3228|2753/3228|918/1075||;p3_1000G_AA=t|||;p3_1000G_AC=3431;p3_1000G_AF=0.685104;p3_1000G_AFR_AF=0.4675;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs147268452;p3_1000G_DP=8238;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.7475;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131220864;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:46:46,0,75
chr2	130463529	rs4531942	T	C	1014.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.14;QD=28.99;SOR=2.115;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs139258542;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|15/15|c.2515A>G|p.Met839Val|2515/3228|2515/3228|839/1075||;p3_1000G_AA=t|||;p3_1000G_AC=4963;p3_1000G_AF=0.991014;p3_1000G_AFR_AF=0.9682;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs139258542;p3_1000G_DP=15552;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131221102;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1043,105,0
chr2	130463597	rs4369872	C	T	1746.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.75;QD=29.61;SOR=1.217;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs144934754;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|15/15|c.2447G>A|p.Arg816His|2447/3228|2447/3228|816/1075||;p3_1000G_AA=c|||;p3_1000G_AC=4225;p3_1000G_AF=0.84365;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs144934754;p3_1000G_DP=15382;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131221170;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8845;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1775,177,0
chr2	130463872	rs201589859	G	A	463.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=36.3;QD=33.13;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201589859;dbSNPBuildID=137;ANN=A|synonymous_variant|LOW|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|15/15|c.2172C>T|p.Asp724Asp|2172/3228|2172/3228|724/1075||;p3_1000G_AA=g|||;p3_1000G_AC=4290;p3_1000G_AF=0.856629;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=10647;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9016;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131221445;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:492,42,0
chr2	130463926	rs2599798	G	A	90.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24.75;QD=22.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|15/15|c.2118C>T|p.Ala706Ala|2118/3228|2118/3228|706/1075||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:118,12,0
chr2	130474438	rs4044394	C	T	66.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.12;QD=22.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs202069604;dbSNPBuildID=108;ANN=T|missense_variant|MODERATE|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|13/15|c.1718G>A|p.Arg573Lys|1718/3228|1718/3228|573/1075||;p3_1000G_AA=c|||;p3_1000G_AC=4053;p3_1000G_AF=0.809305;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs202069604;p3_1000G_DP=19344;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.8658;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131232011;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:94,9,0
chr2	130474814	rs62163586	A	G	31.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24.51;QD=15.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200014177;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|12/14|c.1596+93T>C||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:59,6,0
chr2	130475044	rs3863876	G	T	31.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24.51;QD=15.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs200967759;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|11/14|c.1552-93C>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=4349;p3_1000G_AF=0.868411;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs200967759;p3_1000G_DP=12669;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.8608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131232617;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9376;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:59,6,0
chr2	130508957	rs10737928	C	A	5584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=187;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.14;QD=30.35;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10737928;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|POTEI|POTEI|transcript|NM_001277406.1|protein_coding|1/15|c.279G>T|p.Thr93Thr|279/3228|279/3228|93/1075||;p3_1000G_AA=c|||;p3_1000G_AC=4301;p3_1000G_AF=0.858826;p3_1000G_AFR_AF=0.652;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=17755;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.8738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131266530;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,184:184:99:5613,548,0
chr2	130580573	rs375190971;rs71396600	AC	A	559.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.79;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=28.77;MQRankSum=0.988;QD=14.73;ReadPosRankSum=1.13;SOR=0.612;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs375190971;dbSNPBuildID=138,130;ANN=A|intron_variant|MODIFIER|LOC646743|LOC646743.2|transcript|NR_033930.1.2|pseudogene|2/2|n.329-1685delC||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TISP43|TISP43.2|transcript|NR_027313.1.2|pseudogene|2/2|n.312-1685delC||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TISP43|TISP43.2|transcript|NR_027314.1.2|pseudogene|1/1|n.133-1682delC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:18,20:38:99:597,0,526
chr2	130620134	rs201225245	A	G	236.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=28.95;QD=29.6;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201225245;dbSNPBuildID=137;ANN=G|synonymous_variant|LOW|POTEJ|POTEJ|transcript|NM_001277083.1|protein_coding|4/15|c.789A>G|p.Ala263Ala|789/3277|789/3117|263/1038||;p3_1000G_AA=N|||;p3_1000G_AC=3654;p3_1000G_AF=0.729633;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=8443;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.7664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131377707;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:265,24,0
chr2	130656488	rs62165274	A	G	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.303;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.77;MQRankSum=-5.196;QD=3.82;ReadPosRankSum=0.559;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62165274;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|POTEJ|POTEJ|transcript|NM_001277083.1|protein_coding|14/14|c.1789-61A>G||||||	GT:AD:DP:GQ:PL	0/1:22,7:29:99:139,0,657
chr2	130656500	rs62165275	T	A	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.11;MQRankSum=-5.482;QD=3.86;ReadPosRankSum=0.019;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62165275;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|POTEJ|POTEJ|transcript|NM_001277083.1|protein_coding|14/14|c.1789-49T>A||||||	GT:AD:DP:GQ:PL	0/1:28,9:37:99:171,0,720
chr2	130656603	rs62165276	C	T	755.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.063;ClippingRankSum=0;DP=98;ExcessHet=3.0103;FS=4.014;MLEAC=1;MLEAF=0.5;MQ=56.06;MQRankSum=-4.201;QD=7.79;ReadPosRankSum=-1.009;SOR=1.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62165276;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|POTEJ|POTEJ|transcript|NM_001277083.1|protein_coding|15/15|c.1843C>T|p.Arg615Trp|1843/3277|1843/3117|615/1038||	GT:AD:DP:GQ:PL	0/1:60,37:97:99:784,0,1508
chr2	130656765	rs201265731	G	A	1534.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.146;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=16.413;MLEAC=1;MLEAF=0.5;MQ=42.82;MQRankSum=0.932;QD=15.35;ReadPosRankSum=0.159;SOR=0.886;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201265731;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|POTEJ|POTEJ|transcript|NM_001277083.1|protein_coding|15/15|c.2005G>A|p.Ala669Thr|2005/3277|2005/3117|669/1038||	GT:AD:DP:GQ:PL	0/1:38,62:100:99:1563,0,809
chr2	130656821	rs200109207	C	T	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.397;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=32.412;MLEAC=1;MLEAF=0.5;MQ=41.83;MQRankSum=-4.732;QD=2.28;ReadPosRankSum=1.23;SOR=4.171;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200109207;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|POTEJ|POTEJ|transcript|NM_001277083.1|protein_coding|15/15|c.2061C>T|p.Asp687Asp|2061/3277|2061/3117|687/1038||	GT:AD:DP:GQ:PL	0/1:70,16:86:99:224,0,2075
chr2	130656858	rs71221348	T	C	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.85;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=25.939;MLEAC=1;MLEAF=0.5;MQ=42.45;MQRankSum=-4.32;QD=0.15;ReadPosRankSum=-0.778;SOR=4.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201034632;dbSNPBuildID=130;ANN=C|missense_variant|MODERATE|POTEJ|POTEJ|transcript|NM_001277083.1|protein_coding|15/15|c.2098T>C|p.Cys700Arg|2098/3277|2098/3117|700/1038||	GT:AD:DP:GQ:PL	0/1:74,9:83:40:40,0,2046
chr2	130657305	rs201354416	A	C	1221.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.74;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=3.731;MLEAC=1;MLEAF=0.5;MQ=31.52;MQRankSum=3.66;QD=24.44;ReadPosRankSum=-0.453;SOR=0.276;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201354416;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|POTEJ|POTEJ|transcript|NM_001277083.1|protein_coding|15/15|c.2545A>C|p.Thr849Pro|2545/3277|2545/3117|849/1038||;p3_1000G_AA=a|||;p3_1000G_AC=1120;p3_1000G_AF=0.223642;p3_1000G_AFR_AF=0.3896;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=23202;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.1213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131414878;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,39:50:99:1250,0,168
chr2	130730100	rs272128	A	C	3294.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=1.059;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs272128;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|GPR148|GPR148|transcript|NM_207364.2|protein_coding|1/1|c.949A>C|p.Thr317Pro|1031/1267|949/1044|317/347||;p3_1000G_AA=.|||;p3_1000G_AC=4782;p3_1000G_AF=0.954872;p3_1000G_AFR_AF=0.9652;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=19926;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131487673;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4246,160;ESP6500_AA_GTC=2044,158,1;ESP6500_CDS_SIZES=NM_207364.2:1044;ESP6500_CG=3.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=76;ESP6500_EA_AC=7966,634;ESP6500_EA_GTC=3690,586,24;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207364.2:missense;ESP6500_GL=GPR148;ESP6500_GRCh38_POSITION=2:130730100;ESP6500_GS=38;ESP6500_GTC=5734,744,25;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_207364.2:c.949A>C;ESP6500_HGVS_PROTEIN_VAR=NM_207364.2:p.(T317P);ESP6500_MAF=7.3721,3.6314,6.1049;ESP6500_PH=benign:0.0;ESP6500_TAC=12212,794	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3323,300,0
chr2	130763090	rs1905235	T	C	1763.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=0.729;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1905235;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|AMER3|AMER3|transcript|NM_001105193.1|protein_coding|2/2|c.1018T>C|p.Ser340Pro|1192/6236|1018/2586|340/861||,C|missense_variant|MODERATE|AMER3|AMER3|transcript|NM_152698.2|protein_coding|2/2|c.1018T>C|p.Ser340Pro|1208/6252|1018/2586|340/861||,C|missense_variant|MODERATE|AMER3|AMER3|transcript|NM_001105194.1|protein_coding|2/2|c.1018T>C|p.Ser340Pro|1128/6172|1018/2586|340/861||,C|missense_variant|MODERATE|AMER3|AMER3|transcript|NM_001105195.1|protein_coding|2/2|c.1018T>C|p.Ser340Pro|1125/6169|1018/2586|340/861||;p3_1000G_AA=C|||;p3_1000G_AC=4975;p3_1000G_AF=0.993411;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=15724;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131520663;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4377,29;ESP6500_AA_AGE=35.2+/-66.4;ESP6500_AA_GTC=2174,29,0;ESP6500_CDS_SIZES=NM_152698.2:2586,NM_001105195.1:2586,NM_001105194.1:2586,NM_001105193.1:2586;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=36;ESP6500_EA_AC=8330,270;ESP6500_EA_AGE=99.5+/-161.0;ESP6500_EA_GTC=4034,262,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152698.2:missense,NM_001105195.1:missense,NM_001105194.1:missense,NM_001105193.1:missense;ESP6500_GL=FAM123C;ESP6500_GRCh38_POSITION=2:130763090;ESP6500_GS=74,74,74,74;ESP6500_GTC=6208,291,4;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152698.2:c.1018T>C,NM_001105195.1:c.1018T>C,NM_001105194.1:c.1018T>C,NM_001105193.1:c.1018T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152698.2:p.(S340P),NM_001105195.1:p.(S340P),NM_001105194.1:p.(S340P),NM_001105193.1:p.(S340P);ESP6500_MAF=3.1395,0.6582,2.2989;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12707,299	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1792,165,0
chr2	130764352	rs773198095	C	T	582.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.839;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.572;SOR=0.483;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|synonymous_variant|LOW|AMER3|AMER3|transcript|NM_001105193.1|protein_coding|2/2|c.2280C>T|p.Thr760Thr|2454/6236|2280/2586|760/861||,T|synonymous_variant|LOW|AMER3|AMER3|transcript|NM_152698.2|protein_coding|2/2|c.2280C>T|p.Thr760Thr|2470/6252|2280/2586|760/861||,T|synonymous_variant|LOW|AMER3|AMER3|transcript|NM_001105194.1|protein_coding|2/2|c.2280C>T|p.Thr760Thr|2390/6172|2280/2586|760/861||,T|synonymous_variant|LOW|AMER3|AMER3|transcript|NM_001105195.1|protein_coding|2/2|c.2280C>T|p.Thr760Thr|2387/6169|2280/2586|760/861||	GT:AD:DP:GQ:PL	0/1:23,22:45:99:611,0,577
chr2	130915377	rs12464119	A	G	2106.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12464119;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|ARHGEF4|ARHGEF4|transcript|NM_015320.3|protein_coding||c.-15581A>G|||||1274|,G|upstream_gene_variant|MODIFIER|ARHGEF4|ARHGEF4|transcript|NM_032995.2|protein_coding||c.-15581A>G|||||2020|,G|intergenic_region|MODIFIER|AMER3-ARHGEF4|AMER3-ARHGEF4|intergenic_region|AMER3-ARHGEF4|||n.130915377A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2897;p3_1000G_AF=0.578474;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=17868;p3_1000G_EAS_AF=0.8552;p3_1000G_EUR_AF=0.6431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131672950;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2135,180,0
chr2	130915743	rs3739129	C	T	1322.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3739129;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|ARHGEF4|ARHGEF4|transcript|NM_015320.3|protein_coding||c.-15215C>T|||||908|,T|upstream_gene_variant|MODIFIER|ARHGEF4|ARHGEF4|transcript|NM_032995.2|protein_coding||c.-15215C>T|||||1654|,T|intergenic_region|MODIFIER|AMER3-ARHGEF4|AMER3-ARHGEF4|intergenic_region|AMER3-ARHGEF4|||n.130915743C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3076;p3_1000G_AF=0.614217;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=14134;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131673316;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1351,126,0
chr2	130916712	rs3739127	A	G	958.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3739127;dbSNPBuildID=107;ANN=G|5_prime_UTR_variant|MODIFIER|ARHGEF4|ARHGEF4|transcript|NM_015320.3|protein_coding|1/14|c.-458A>G|||||14246|,G|upstream_gene_variant|MODIFIER|ARHGEF4|ARHGEF4|transcript|NM_032995.2|protein_coding||c.-14246A>G|||||685|;p3_1000G_AA=A|||;p3_1000G_AC=2677;p3_1000G_AF=0.534545;p3_1000G_AFR_AF=0.0779;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=17048;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.6531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131674285;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:987,93,0
chr2	131011664	rs13023338	G	A	1059.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=1.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13023338;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ARHGEF4|ARHGEF4|transcript|NM_015320.3|protein_coding|4/13|c.428-16281G>A||||||,A|intron_variant|MODIFIER|ARHGEF4|ARHGEF4|transcript|NM_032995.2|protein_coding|3/11|c.428-16281G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2963;p3_1000G_AF=0.591653;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=18812;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.8459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131769237;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1088,99,0
chr2	131130788	rs761790085	AT	A	19.78	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.25;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=1.33;SOR=0.593;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001267062.1|protein_coding|5/8|c.333+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001100623.1|protein_coding|5/7|c.333+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001267063.1|protein_coding|5/8|c.333+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001267064.1|protein_coding|5/7|c.333+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001267065.1|protein_coding|5/7|c.333+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001267066.1|protein_coding|5/6|c.333+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001267067.1|protein_coding|4/5|c.293+4016delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001267068.1|protein_coding|4/5|c.293+4016delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001309448.1|protein_coding|4/6|c.189+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001309450.1|protein_coding|3/5|c.88-2100delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001309451.1|protein_coding|4/6|c.189+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_001309452.1|protein_coding|6/8|c.189+42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PLEKHB2|PLEKHB2|transcript|NM_017958.2|protein_coding|5/7|c.333+42delT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=519,782,2965;ESP6500_AA_GTC=1,1,516,0,781,834;ESP6500_CDS_SIZES=NM_017958.2:666,NM_017958.2:666,NM_001267068.1:513,NM_001267068.1:513,NM_001267067.1:516,NM_001267067.1:516,NM_001267066.1:537,NM_001267066.1:537,NM_001267065.1:693,NM_001267065.1:693,NM_001267064.1:690,NM_001267064.1:690,NM_001267063.1:708,NM_001267063.1:708,NM_001267062.1:711,NM_001267062.1:711,NM_001100623.1:669,NM_001100623.1:669;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DP=43;ESP6500_EA_AC=1059,1445,5750;ESP6500_EA_GTC=0,3,1056,1,1440,1627;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017958.2:intron,NM_017958.2:intron,NM_001267068.1:intron,NM_001267068.1:intron,NM_001267067.1:intron,NM_001267067.1:intron,NM_001267066.1:intron,NM_001267066.1:intron,NM_001267065.1:intron,NM_001267065.1:intron,NM_001267064.1:intron,NM_001267064.1:intron,NM_001267063.1:intron,NM_001267063.1:intron,NM_001267062.1:intron,NM_001267062.1:intron,NM_001100623.1:intron,NM_001100623.1:intron;ESP6500_GL=PLEKHB2;ESP6500_GRCh38_POSITION=2:131130788;ESP6500_GTC=1,4,1572,1,2221,2461;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_017958.2:c.333+29del1,NM_017958.2:c.333+28_333+29insT,NM_001267068.1:c.293+4003del1,NM_001267068.1:c.293+4002_293+4003insT,NM_001267067.1:c.293+4003del1,NM_001267067.1:c.293+4002_293+4003insT,NM_001267066.1:c.333+29del1,NM_001267066.1:c.333+28_333+29insT,NM_001267065.1:c.333+29del1,NM_001267065.1:c.333+28_333+29insT,NM_001267064.1:c.333+29del1,NM_001267064.1:c.333+28_333+29insT,NM_001267063.1:c.333+29del1,NM_001267063.1:c.333+28_333+29insT,NM_001267062.1:c.333+29del1,NM_001267062.1:c.333+28_333+29insT,NM_001100623.1:c.333+29del1,NM_001100623.1:c.333+28_333+29insT;ESP6500_MAF=30.3368,30.497,30.3914;ESP6500_TAC=1578,2227,8715	GT:AD:DP:GQ:PL	0/1:17,4:21:57:57,0,340
chr2	131218699	rs9973941	G	C	3900.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=116;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.63;QD=33.63;SOR=1.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62177515;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|POTEE|POTEE|transcript|NM_001083538.1|protein_coding|1/15|c.297G>C|p.Gly99Gly|349/3440|297/3228|99/1075||	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3929,348,0
chr2	131236657	rs3927020	C	A	21.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=24;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs143181131;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|POTEE|POTEE|transcript|NM_001083538.1|protein_coding|6/14|c.1127-75C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3332;p3_1000G_AF=0.665335;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs143181131;p3_1000G_DP=12808;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.8658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=131994230;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr2	131353255	rs9789389	G	T	93.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.344;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=35.01;MQRankSum=-0.207;QD=6.7;ReadPosRankSum=0.15;SOR=1.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373666409;dbSNPBuildID=124;ANN=T|intergenic_region|MODIFIER|LOC440910-WTH3DI|LOC440910-WTH3DI|intergenic_region|LOC440910-WTH3DI|||n.131353255G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3765;p3_1000G_AF=0.751797;p3_1000G_AFR_AF=0.5877;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs373666409;p3_1000G_DP=8416;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.8827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132110828;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:122,0,227
chr2	131353548	rs11895354	G	A	311.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.96;QD=29;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11895354;dbSNPBuildID=120;ANN=A|intergenic_region|MODIFIER|LOC440910-WTH3DI|LOC440910-WTH3DI|intergenic_region|LOC440910-WTH3DI|||n.131353548G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3868;p3_1000G_AF=0.772364;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=6398;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132111121;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:131353548_G_A:340,24,0
chr2	131353550	rs62179972	T	C	311.78	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.85;QD=30.65;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs370814343;dbSNPBuildID=129;ANN=C|intergenic_region|MODIFIER|LOC440910-WTH3DI|LOC440910-WTH3DI|intergenic_region|LOC440910-WTH3DI|||n.131353550T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3868;p3_1000G_AF=0.772364;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=6460;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132111123;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:24:1|1:131353548_G_A:340,24,0
chr2	131353554	rs13410274	G	T	286.8	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.33;QD=29.24;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13410274;dbSNPBuildID=121;ANN=T|intergenic_region|MODIFIER|LOC440910-WTH3DI|LOC440910-WTH3DI|intergenic_region|LOC440910-WTH3DI|||n.131353554G>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3868;p3_1000G_AF=0.772364;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=6388;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132111127;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:21:1|1:131353548_G_A:315,21,0
chr2	131353593	rs760852051	G	GCC	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.98;QD=33.62;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNPBuildID=144;ANN=GCC|intergenic_region|MODIFIER|LOC440910-WTH3DI|LOC440910-WTH3DI|intergenic_region|LOC440910-WTH3DI|||n.131353593_131353594insCC||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:131353593_G_GCC:225,15,0
chr2	131353594	rs1466091015	G	GCCGCCGCCGC	187.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.98;QD=29.76;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=GCCGCCGCCGC|intergenic_region|MODIFIER|LOC440910-WTH3DI|LOC440910-WTH3DI|intergenic_region|LOC440910-WTH3DI|||n.131353594_131353595insCCGCCGCCGC||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:131353593_G_GCC:225,15,0
chr2	131362928	rs146351322;rs56985094	C	CT	1521.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.23;QD=30.43;SOR=1.958;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs146351322,rs56985094;dbSNPBuildID=134,129;ANN=CT|3_prime_UTR_variant|MODIFIER|WTH3DI|WTH3DI|transcript|NM_001077637.1|protein_coding|1/1|c.*27dupA|||||27|;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=3692;p3_1000G_AF=0.73722;p3_1000G_AFR_AF=0.5477;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=19457;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.8241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132120501;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1559,153,0
chr2	131423910	rs1059524	G	T	2042.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.89;QD=30.49;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1059524;dbSNPBuildID=108;ANN=T|intergenic_region|MODIFIER|LINC01120-NOC2LP2|LINC01120-NOC2LP2|intergenic_region|LINC01120-NOC2LP2|||n.131423910G>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=1883;p3_1000G_AF=0.375998;p3_1000G_AFR_AF=0.1687;p3_1000G_AMR_AF=0.5159;p3_1000G_AN=5008;p3_1000G_DP=19202;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132181483;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2071,201,0
chr2	131424875	rs1880994	G	A	2698.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.11;QD=34.16;SOR=1.522;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1880994;dbSNPBuildID=92;ANN=A|intergenic_region|MODIFIER|LINC01120-NOC2LP2|LINC01120-NOC2LP2|intergenic_region|LINC01120-NOC2LP2|||n.131424875G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=1830;p3_1000G_AF=0.365415;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=10104;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.2286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132182448;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2727,236,0
chr2	131424916	rs1880995	T	G	2412.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.14;QD=34.97;SOR=1.785;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1880995;dbSNPBuildID=92;ANN=G|intergenic_region|MODIFIER|LINC01120-NOC2LP2|LINC01120-NOC2LP2|intergenic_region|LINC01120-NOC2LP2|||n.131424916T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=1829;p3_1000G_AF=0.365216;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=8814;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.2276;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132182489;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2441,207,0
chr2	131424979	rs4516472	G	A	1065.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.16;QD=31.35;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4516472;dbSNPBuildID=111;ANN=A|intergenic_region|MODIFIER|LINC01120-NOC2LP2|LINC01120-NOC2LP2|intergenic_region|LINC01120-NOC2LP2|||n.131424979G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1828;p3_1000G_AF=0.365016;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=6610;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132182552;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1094,102,0
chr2	131425014	rs1880996	G	A	942.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.25;QD=32.91;SOR=6.273;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1880996;dbSNPBuildID=92;ANN=A|intergenic_region|MODIFIER|LINC01120-NOC2LP2|LINC01120-NOC2LP2|intergenic_region|LINC01120-NOC2LP2|||n.131425014G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1826;p3_1000G_AF=0.364617;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=6158;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132182587;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,22:22:66:1|1:131425014_G_A:971,66,0
chr2	131425019	rs4513337	G	C	907.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.17;QD=28.12;SOR=6.091;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4513337;dbSNPBuildID=111;ANN=C|intergenic_region|MODIFIER|LINC01120-NOC2LP2|LINC01120-NOC2LP2|intergenic_region|LINC01120-NOC2LP2|||n.131425019G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1831;p3_1000G_AF=0.365615;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=6056;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.2296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132182592;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,20:20:63:1|1:131425014_G_A:936,63,0
chr2	131472147	rs3101998	T	C	2678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.32;QD=32.67;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3101998;dbSNPBuildID=103;ANN=C|upstream_gene_variant|MODIFIER|TUBA3D|TUBA3D|transcript|NM_080386.3|protein_coding||c.-4053T>C|||||3860|,C|intergenic_region|MODIFIER|NOC2LP2-TUBA3D|NOC2LP2-TUBA3D|intergenic_region|NOC2LP2-TUBA3D|||n.131472147T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1787;p3_1000G_AF=0.356829;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=16777;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132229720;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2707,246,0
chr2	131480354	rs200147665	C	A	130.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.746;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=15.105;MLEAC=1;MLEAF=0.5;MQ=40.71;MQRankSum=-1.534;QD=1.58;ReadPosRankSum=1.45;SOR=2.827;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200147665;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|TUBA3D|TUBA3D|transcript|NM_080386.3|protein_coding|4/5|c.661C>A|p.Arg221Ser|854/1632|661/1353|221/450||,A|downstream_gene_variant|MODIFIER|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding||c.*3707G>T|||||3606|	GT:AD:DP:GQ:PL	0/1:70,13:83:99:159,0,2196
chr2	131480410	rs6423208	A	G	2069.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.81;QD=33.93;SOR=1.498;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71347110;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|TUBA3D|TUBA3D|transcript|NM_080386.3|protein_coding|4/5|c.717A>G|p.Thr239Thr|910/1632|717/1353|239/450||,G|downstream_gene_variant|MODIFIER|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding||c.*3651T>C|||||3550|	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2098,183,0
chr2	131482936	rs3817560	C	A	387.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.83;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817560;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|TUBA3D|TUBA3D|transcript|NM_080386.3|protein_coding||c.*88C>A|||||2|,A|downstream_gene_variant|MODIFIER|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding||c.*1125G>T|||||1024|,A|intergenic_region|MODIFIER|TUBA3D-MZT2A|TUBA3D-MZT2A|intergenic_region|TUBA3D-MZT2A|||n.131482936C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2878;p3_1000G_AF=0.574681;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=17260;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.3121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132240509;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:416,39,0
chr2	131483929	rs61122959;rs796773431	TA	T	225.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.262;SOR=1.445;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs61122959;dbSNPBuildID=130,146;ANN=T|downstream_gene_variant|MODIFIER|TUBA3D|TUBA3D|transcript|NM_080386.3|protein_coding||c.*1082delA|||||996|,T|downstream_gene_variant|MODIFIER|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding||c.*131delT|||||30|,T|intergenic_region|MODIFIER|TUBA3D-MZT2A|TUBA3D-MZT2A|intergenic_region|TUBA3D-MZT2A|||n.131483930delA||||||;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=2633;p3_1000G_AF=0.525759;p3_1000G_AFR_AF=0.5605;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=16338;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.4056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132241502;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,13:18:64:263,0,64
chr2	131483994	rs1274074789	T	C	482.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.41;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=4.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=1.36;SOR=0.252;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|3_prime_UTR_variant|MODIFIER|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding|3/3|c.*67A>G|||||67|,C|downstream_gene_variant|MODIFIER|TUBA3D|TUBA3D|transcript|NM_080386.3|protein_coding||c.*1146T>C|||||1060|	GT:AD:DP:GQ:PL	0/1:34,21:55:99:511,0,950
chr2	131491799	rs6706952	C	T	317.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.18;QD=30.34;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6706952;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|MIR4784|MIR4784|transcript|NR_039945.1|pseudogene||n.-563G>A|||||563|,T|upstream_gene_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene||n.-1014C>T|||||1014|,T|intron_variant|MODIFIER|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding|2/2|c.319+77G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=4009;p3_1000G_AF=0.800519;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=9827;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132249372;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:346,27,0
chr2	131492027	rs2272357	G	A	2161.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.8;QD=23.99;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272357;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding|1/2|c.171-3C>T||||||,A|upstream_gene_variant|MODIFIER|MIR4784|MIR4784|transcript|NR_039945.1|pseudogene||n.-791C>T|||||791|,A|upstream_gene_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene||n.-786G>A|||||786|;p3_1000G_AA=.|||;p3_1000G_AC=1838;p3_1000G_AF=0.367013;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=11305;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.2266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132249600;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,48:48:99:1|1:131492027_G_A:2190,147,0
chr2	131492032	rs2272358	G	A	2126.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.26;QD=30.24;SOR=0.866;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272358;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding|1/2|c.171-8C>T||||||,A|upstream_gene_variant|MODIFIER|MIR4784|MIR4784|transcript|NR_039945.1|pseudogene||n.-796C>T|||||796|,A|upstream_gene_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene||n.-781G>A|||||781|;p3_1000G_AA=.|||;p3_1000G_AC=1839;p3_1000G_AF=0.367212;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=11057;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.2266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132249605;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,48:48:99:1|1:131492027_G_A:2155,144,0
chr2	131497108	rs6711982	A	G	163.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.78;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6711982;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding||c.-4732T>C|||||4617|,G|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|1/17|n.329-102A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1579;p3_1000G_AF=0.315296;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=19991;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132254681;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:192,15,0
chr2	131497412	rs12469530	A	T	180.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12469530;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|MZT2A|MZT2A|transcript|NM_001085365.1|protein_coding||c.-5036T>A|||||4921|,T|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|2/17|n.412+119A>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1579;p3_1000G_AF=0.315296;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=18094;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132254985;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:209,15,0
chr2	131498746	rs3817564	C	G	225.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.94;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817564;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|2/17|n.413-121C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=19186;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132256319;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:254,18,0
chr2	131498837	rs3817567	G	A	716.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817567;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|2/17|n.413-30G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=19170;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132256410;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:131498837_G_A:745,51,0
chr2	131498841	rs3817568	C	T	728.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817568;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|2/17|n.413-26C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=19147;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132256414;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:51:1|1:131498837_G_A:757,51,0
chr2	131498847	rs3817569	C	T	728.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.42;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817569;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|2/17|n.413-20C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=18961;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132256420;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:131498837_G_A:757,51,0
chr2	131498932	rs3817572	A	C	625.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.54;QD=28.44;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817572;dbSNPBuildID=107;ANN=C|non_coding_transcript_exon_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|3/18|n.478A>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2568;p3_1000G_AF=0.51278;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=20535;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132256505;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:654,66,0
chr2	131498986	rs3817574	T	C	494.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.41;QD=29.1;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817574;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|3/17|n.499+33T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=19033;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132256559;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:523,51,0
chr2	131500458	rs3108473	A	G	1643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.88;QD=31.61;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3108473;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|4/17|n.643-48A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=22025;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132258031;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1672,156,0
chr2	131500911	rs12469143	G	A	775.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=45.59;QD=32.32;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs139623617;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|5/17|n.719-51G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs139623617;p3_1000G_DP=19785;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132258484;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:804,72,0
chr2	131501020	rs13415770;rs76033185	A	G	1494.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.86;QD=32.49;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13415770;dbSNPBuildID=121,131;ANN=G|non_coding_transcript_exon_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|6/18|n.777A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1503;p3_1000G_AF=0.30012;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=19153;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.2157;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132258593;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1523,138,0
chr2	131501242	rs12691986	G	A	1533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54;QD=34.86;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12691986;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|7/17|n.880+9G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=22397;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132258815;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1562,132,0
chr2	131506220	rs10190283	C	G	725.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.11;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10190283;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|8/17|n.1032-92C>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=16339;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132263793;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:754,60,0
chr2	131515519	rs2950565	T	G	1170.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.81;QD=31.64;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2950565;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|10/17|n.1235-83T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1678;p3_1000G_AF=0.335064;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=16984;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132273092;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1199,111,0
chr2	131515853	rs71934146	GGAGTC	G	367.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.24;QD=27.95;SOR=2.093;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71934146;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|11/17|n.1380+107_1380+111delGAGTC||||||;p3_1000G_AC=1674;p3_1000G_AF=0.334265;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=18060;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132273426;p3_1000G_GRCH37_REF=GGAGTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:27:405,27,0
chr2	131515920	rs941329	C	T	113.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.02;QD=28.26;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs941329;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|11/17|n.1380+173C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=18762;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132273493;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:141,12,0
chr2	131516504	rs4309618	A	G	1694.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=43.48;QD=33.23;SOR=1.848;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4309618;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|12/17|n.1471+100A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1580;p3_1000G_AF=0.315495;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=19726;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132274077;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1723,153,0
chr2	131516540	rs4493309	A	G	1179.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.86;QD=32.77;SOR=1.949;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4493309;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|12/17|n.1471+136A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=19869;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132274113;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1208,108,0
chr2	131518466	rs2463327	C	T	835.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.75;QD=30.95;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28681469;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|14/17|n.1737-37C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1497;p3_1000G_AF=0.298922;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=18590;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132276039;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:864,81,0
chr2	131518681	rs28621583	A	G	1245.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=44.63;QD=28.31;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28621583;dbSNPBuildID=125;ANN=G|non_coding_transcript_exon_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|15/18|n.1915A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=15569;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2227;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132276254;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1274,132,0
chr2	131518786	rs7608954	T	C	659.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.2;QD=31.42;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7608954;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|15/17|n.1942+78T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1677;p3_1000G_AF=0.334864;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=18384;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132276359;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:688,63,0
chr2	131518957	rs12052334	C	T	661.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.06;QD=33.09;SOR=2.531;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12052334;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|15/17|n.1943-93C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1677;p3_1000G_AF=0.334864;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=19332;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132276530;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:690,60,0
chr2	131519077	rs28712373	G	C	947.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.86;QD=33.85;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28712373;dbSNPBuildID=125;ANN=C|non_coding_transcript_exon_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|16/18|n.1970G>C||||||	GT:AD:DP:GQ:PL	1/1:0,28:28:84:976,84,0
chr2	131520389	rs7560296	T	C	761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.47;QD=29.3;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7560296;dbSNPBuildID=116;ANN=C|non_coding_transcript_exon_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|18/18|n.2601T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=2568;p3_1000G_AF=0.51278;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=16761;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132277962;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:790,78,0
chr2	131520411	rs10209980	G	A	568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.7;QD=27.08;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10209980;dbSNPBuildID=119;ANN=A|non_coding_transcript_exon_variant|MODIFIER|LOC150776|LOC150776|transcript|NR_026922.1|pseudogene|18/18|n.2623G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=16861;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132277984;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:597,63,0
chr2	131527783	rs1812767	C	A	44.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.68;QD=22.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1812767;dbSNPBuildID=92;ANN=A|upstream_gene_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding||c.-188C>A|||||51|,A|upstream_gene_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding||c.-188C>A|||||51|,A|upstream_gene_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding||c.-188C>A|||||51|,A|upstream_gene_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding||c.-188C>A|||||51|,A|intergenic_region|MODIFIER|LOC150776-CCDC74A|LOC150776-CCDC74A|intergenic_region|LOC150776-CCDC74A|||n.131527783C>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1511;p3_1000G_AF=0.301717;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=14081;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132285356;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:72,6,0
chr2	131528473	rs3101992	A	G	991.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=38.23;QD=33.06;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3101992;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|1/7|c.250+253A>G||||||,G|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|1/7|c.376+127A>G||||||,G|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|1/6|c.250+253A>G||||||,G|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|1/7|c.250+253A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.6354;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=14922;p3_1000G_EAS_AF=0.6111;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132286046;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1020,90,0
chr2	131528488	rs60469601	A	G	1068.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40.69;QD=32.39;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60469601;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|1/7|c.250+268A>G||||||,G|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|1/7|c.376+142A>G||||||,G|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|1/6|c.250+268A>G||||||,G|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|1/7|c.250+268A>G||||||	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1097,99,0
chr2	131528582	rs10174409	G	C	524.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=47.64;QD=30.87;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10174409;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|1/7|c.250+362G>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|1/7|c.376+236G>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|1/6|c.250+362G>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|1/7|c.250+362G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=1495;p3_1000G_AF=0.298522;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=14671;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132286155;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:553,51,0
chr2	131530529	rs116538008	T	C	47.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.12;QD=23.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs116538008;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|2/7|c.296-50T>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|2/7|c.422-50T>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|2/6|c.296-50T>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|2/7|c.296-248T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1908;p3_1000G_AF=0.38099;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=13782;p3_1000G_EAS_AF=0.5337;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132288102;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=317,3025;ESP6500_AA_GTC=2,313,1356;ESP6500_CDS_SIZES=NM_138770.2:1137,NM_001258306.1:939,NM_001258305.1:819,NM_001258304.1:1128;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=25;ESP6500_EA_AC=213,8015;ESP6500_EA_GTC=0,213,3901;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138770.2:intron,NM_001258306.1:intron,NM_001258305.1:intron,NM_001258304.1:intron;ESP6500_GL=CCDC74A;ESP6500_GRCh38_POSITION=2:131530529;ESP6500_GTC=2,526,5257;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138770.2:c.296-50T>C,NM_001258306.1:c.296-248T>C,NM_001258305.1:c.296-50T>C,NM_001258304.1:c.422-50T>C;ESP6500_MAF=2.5887,9.4853,4.5808;ESP6500_TAC=530,11040	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0
chr2	131530789	rs2599971	T	C	2143.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=30.71;QD=32;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs201632382;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|3/8|c.506T>C|p.Met169Thr|643/1542|506/1137|169/378||,C|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|3/8|c.632T>C|p.Met211Thr|769/1533|632/1128|211/375||,C|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|3/7|c.506T>C|p.Met169Thr|643/1349|506/819|169/272||,C|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|3/8|c.308T>C|p.Met103Thr|445/1344|308/939|103/312||	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2172,201,0
chr2	131532678	rs142708014	C	T	1220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.795;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=4.394;MLEAC=1;MLEAF=0.5;MQ=50.56;MQRankSum=-0.74;QD=15.45;ReadPosRankSum=0.081;SOR=0.438;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142708014;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|5/8|c.773C>T|p.Pro258Leu|910/1542|773/1137|258/378||,T|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|5/8|c.575C>T|p.Pro192Leu|712/1344|575/939|192/312||,T|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|4/7|c.810-46C>T||||||,T|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|4/6|c.684-186C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=13;p3_1000G_AF=0.00259585;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18395;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132290251;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2,4404;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_138770.2:1137,NM_001258306.1:939,NM_001258305.1:819,NM_001258304.1:1128;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=103;ESP6500_EA_AC=0,8598;ESP6500_EA_GTC=0,0,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138770.2:missense,NM_001258306.1:missense,NM_001258305.1:intron,NM_001258304.1:intron;ESP6500_GL=CCDC74A;ESP6500_GRCh38_POSITION=2:131532678;ESP6500_GS=98,98,.,.;ESP6500_GTC=0,2,6500;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138770.2:c.773C>T,NM_001258306.1:c.575C>T,NM_001258305.1:c.684-186C>T,NM_001258304.1:c.810-46C>T;ESP6500_HGVS_PROTEIN_VAR=NM_138770.2:p.(P258L),NM_001258306.1:p.(P192L),.,.;ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_PH=probably-damaging:0.997,probably-damaging:0.997,.,.;ESP6500_TAC=2,13002	GT:AD:DP:GQ:PL	0/1:30,49:79:99:1249,0,742
chr2	131532826	rs57007130	G	A	1921.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-1.926;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=7.029;MLEAC=2;MLEAF=1;MQ=53.01;MQRankSum=2.56;QD=27.85;ReadPosRankSum=-0.687;SOR=0.588;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs57007130;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|5/7|c.877-38G>A||||||,A|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|5/7|c.868-38G>A||||||,A|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|4/6|c.684-38G>A||||||,A|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|5/7|c.679-38G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2702;p3_1000G_AF=0.539537;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=15442;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.3211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132290399;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2776,1628;ESP6500_AA_GTC=895,986,321;ESP6500_CDS_SIZES=NM_138770.2:1137,NM_001258306.1:939,NM_001258305.1:819,NM_001258304.1:1128;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=32;ESP6500_EA_AC=2559,6039;ESP6500_EA_GTC=410,1739,2150;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138770.2:intron,NM_001258306.1:intron,NM_001258305.1:intron,NM_001258304.1:intron;ESP6500_GL=CCDC74A;ESP6500_GRCh38_POSITION=2:131532826;ESP6500_GTC=1305,2725,2471;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_138770.2:c.877-38G>A,NM_001258306.1:c.679-38G>A,NM_001258305.1:c.684-38G>A,NM_001258304.1:c.868-38G>A;ESP6500_MAF=29.7627,36.9664,41.0321;ESP6500_TAC=5335,7667	GT:AD:DP:GQ:PL	1/1:2,67:69:99:1950,117,0
chr2	131532868	rs76069883	G	A	44.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.866;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=11.342;MLEAC=1;MLEAF=0.5;MQ=57.7;MQRankSum=-6.44;QD=0.71;ReadPosRankSum=-1.569;SOR=2.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76069883;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|6/8|c.881G>A|p.Arg294Gln|1018/1542|881/1137|294/378||,A|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|6/8|c.872G>A|p.Arg291Gln|1009/1533|872/1128|291/375||,A|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|5/7|c.688G>A|p.Gly230Ser|825/1349|688/819|230/272||,A|missense_variant|MODERATE|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|6/8|c.683G>A|p.Arg228Gln|820/1344|683/939|228/312||	GT:AD:DP:GQ:PL	0/1:54,9:63:73:73,0,1618
chr2	131533143	rs146759203	G	C	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.169;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.65;MQRankSum=-2.035;QD=8.2;ReadPosRankSum=-0.297;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146759203;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_138770.2|protein_coding|7/7|c.1007+74G>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258304.1|protein_coding|7/7|c.998+74G>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258305.1|protein_coding|6/6|c.814+74G>C||||||,C|intron_variant|MODIFIER|CCDC74A|CCDC74A|transcript|NM_001258306.1|protein_coding|7/7|c.809+74G>C||||||	GT:AD:DP:GQ:PL	0/1:15,9:24:99:225,0,509
chr2	131591649	rs6711357	A	C	2258.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.32;QD=25.27;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6711357;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|CCDC74A-POTEKP|CCDC74A-POTEKP|intergenic_region|CCDC74A-POTEKP|||n.131591649A>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4863;p3_1000G_AF=0.971046;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=15818;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.9911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132349222;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,50:50:99:1|1:131591649_A_C:2287,154,0
chr2	131591651	rs6751575	G	C	2258.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.33;QD=27.65;SOR=2.17;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6751575;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|CCDC74A-POTEKP|CCDC74A-POTEKP|intergenic_region|CCDC74A-POTEKP|||n.131591651G>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4887;p3_1000G_AF=0.975839;p3_1000G_AFR_AF=0.9138;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=15440;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132349224;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,51:51:99:1|1:131591649_A_C:2287,154,0
chr2	131591840	rs6751827	G	A	3269.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.95;QD=31.14;SOR=0.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6751827;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene||n.-4934G>A|||||4934|,A|intergenic_region|MODIFIER|CCDC74A-POTEKP|CCDC74A-POTEKP|intergenic_region|CCDC74A-POTEKP|||n.131591840G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=4773;p3_1000G_AF=0.953075;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=14942;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132349413;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3298,315,0
chr2	131596792	rs2136463	G	C	1614.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.36;QD=31.05;SOR=1.747;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2136463;dbSNPBuildID=96;ANN=C|non_coding_transcript_exon_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|1/6|n.19G>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4995;p3_1000G_AF=0.997404;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19504;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132354365;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1643,156,0
chr2	131596906	rs6704592	C	A	2012.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.54;QD=30.04;SOR=0.849;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6704592;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|1/5|n.115+18C>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=4780;p3_1000G_AF=0.954473;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=20526;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132354479;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2041,201,0
chr2	131597013	rs6710546	A	G	2907.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=46.93;QD=34.85;SOR=1.3;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6710546;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|1/5|n.116-35A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4906;p3_1000G_AF=0.979633;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20744;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132354586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2936,232,0
chr2	131597234	rs6705059	C	T	1988.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.71;QD=32.08;SOR=3.187;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6705059;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|2/5|n.289+13C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=4776;p3_1000G_AF=0.953674;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18357;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132354807;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2017,186,0
chr2	131597280	rs6705083	C	G	930.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.53;QD=27.57;SOR=3.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6705083;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|2/5|n.289+59C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=4773;p3_1000G_AF=0.953075;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18999;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132354853;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:959,75,0
chr2	131599901	rs1848717	C	T	129.9	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.09;QD=25.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1848717;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|2/5|n.290-104C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=4778;p3_1000G_AF=0.954073;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=17376;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132357474;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:158,15,0
chr2	131599946	rs62176580	A	G	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=7.782;MLEAC=1;MLEAF=0.5;MQ=45.43;MQRankSum=-2.655;QD=7.97;ReadPosRankSum=-0.765;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62176580;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|2/5|n.290-59A>G||||||	GT:AD:DP:GQ:PL	0/1:5,4:9:99:100,0,152
chr2	131600094	rs4107587	A	G	830.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.18;QD=29.67;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4107587;dbSNPBuildID=108;ANN=G|non_coding_transcript_exon_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|3/6|n.379A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4736;p3_1000G_AF=0.945687;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=16724;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132357667;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:859,84,0
chr2	131601338	rs6430895	G	A	461.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.77;QD=30.78;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6430895;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|3/5|n.397-85G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=21328;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132358911;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:490,45,0
chr2	131601461	rs6430896	A	G	1657.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.94;QD=30.14;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6430896;dbSNPBuildID=116;ANN=G|non_coding_transcript_exon_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|4/6|n.435A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4907;p3_1000G_AF=0.979832;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=18073;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132359034;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1686,165,0
chr2	131601490	rs7580167	A	G	1572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.46;QD=30.84;SOR=0.813;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60230063;dbSNPBuildID=116;ANN=G|non_coding_transcript_exon_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|4/6|n.464A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs60230063;p3_1000G_DP=19092;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132359063;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1601,153,0
chr2	131601516	rs6430897	C	A	1541.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.64;QD=28.55;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60809087;dbSNPBuildID=116;ANN=A|non_coding_transcript_exon_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|4/6|n.490C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs60809087;p3_1000G_DP=20116;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132359089;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1570,162,0
chr2	131603880	rs6720928	T	C	98.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6720928;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|4/5|n.531-138T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18527;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132361453;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:126,9,0
chr2	131603945	rs6757779	G	A	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6757779;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|4/5|n.531-73G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=4907;p3_1000G_AF=0.979832;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=17400;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132361518;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:131603945_G_A:180,12,0
chr2	131603970	rs6717542	A	G	280.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.31;QD=31.67;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6717542;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|4/5|n.531-48A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=16724;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132361543;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:131603945_G_A:309,21,0
chr2	131609350	rs1979998	G	T	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.803;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.15;MQRankSum=-0.368;QD=10.82;ReadPosRankSum=0.203;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1979998;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene|5/5|n.602-32G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2880;p3_1000G_AF=0.57508;p3_1000G_AFR_AF=0.5333;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=15626;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.6879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132366923;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,13:24:99:288,0,219
chr2	131609421	rs1979997	A	G	713.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.49;QD=26.44;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1979997;dbSNPBuildID=92;ANN=G|downstream_gene_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene||n.*20A>G|||||20|,G|intergenic_region|MODIFIER|POTEKP-LINC01087|POTEKP-LINC01087|intergenic_region|POTEKP-LINC01087|||n.131609421A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4906;p3_1000G_AF=0.979633;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=15416;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132366994;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:742,81,0
chr2	131609489	rs34827162;rs398104717;rs551221522	G	GT	230.37	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.69;MQRankSum=-0.223;QD=19.2;ReadPosRankSum=-1.451;SOR=0.477;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34827162;dbSNPBuildID=126,142,138;ANN=GT|downstream_gene_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene||n.*88_*89insT|||||89|,GT|intergenic_region|MODIFIER|POTEKP-LINC01087|POTEKP-LINC01087|intergenic_region|POTEKP-LINC01087|||n.131609489_131609490insT||||||	GT:AD:DP:GQ:PL	1/1:1,11:12:8:267,8,0
chr2	131611605	rs6752868	T	C	1987.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6752868;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene||n.*2204T>C|||||2204|,C|intergenic_region|MODIFIER|POTEKP-LINC01087|POTEKP-LINC01087|intergenic_region|POTEKP-LINC01087|||n.131611605T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=4730;p3_1000G_AF=0.944489;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=18405;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132369178;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2016,186,0
chr2	131611759	rs6743830	C	T	1378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6743830;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|POTEKP|POTEKP|transcript|NR_033885.2|pseudogene||n.*2358C>T|||||2358|,T|intergenic_region|MODIFIER|POTEKP-LINC01087|POTEKP-LINC01087|intergenic_region|POTEKP-LINC01087|||n.131611759C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=4908;p3_1000G_AF=0.980032;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=18415;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132369332;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1407,129,0
chr2	131626564	rs9287537	A	C	1242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.71;ClippingRankSum=0;DP=92;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.76;MQRankSum=-1.046;QD=13.51;ReadPosRankSum=0.016;SOR=0.623;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9287537;dbSNPBuildID=119;ANN=C|intergenic_region|MODIFIER|POTEKP-LINC01087|POTEKP-LINC01087|intergenic_region|POTEKP-LINC01087|||n.131626564A>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=1523;p3_1000G_AF=0.304113;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=22737;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.2972;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132384137;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=168,1216;ESP6500_AA_GTC=40,88,564;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=22;ESP6500_EA_AC=892,2290;ESP6500_EA_GTC=143,606,842;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:131626564;ESP6500_GTC=183,694,1406;ESP6500_GTS=CC,CA,AA;ESP6500_MAF=28.0327,12.1387,23.2151;ESP6500_TAC=1060,3506	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1271,0,1305
chr2	131626766	rs13011244	C	T	929.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.693;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=3.089;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.29;SOR=0.974;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13011244;dbSNPBuildID=121;ANN=T|intergenic_region|MODIFIER|POTEKP-LINC01087|POTEKP-LINC01087|intergenic_region|POTEKP-LINC01087|||n.131626766C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2924;p3_1000G_AF=0.583866;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=21530;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.6988;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132384339;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=768,616;ESP6500_AA_GTC=206,356,130;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=45;ESP6500_EA_AC=2272,910;ESP6500_EA_GTC=822,628,141;ESP6500_EXOME_CHIP=no;ESP6500_FG=intergenic;ESP6500_GRCh38_POSITION=2:131626766;ESP6500_GTC=1028,984,271;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=28.5984,44.5087,33.4209;ESP6500_TAC=3040,1526	GT:AD:DP:GQ:PL	0/1:38,38:76:99:958,0,1043
chr2	131627109	rs12692060	T	C	1906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.12;QD=26.46;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12692060;dbSNPBuildID=121;ANN=C|intergenic_region|MODIFIER|POTEKP-LINC01087|POTEKP-LINC01087|intergenic_region|POTEKP-LINC01087|||n.131627109T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19816;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132384682;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:131627109_T_C:1935,129,0
chr2	131627110	rs12692061	T	G	1906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.12;QD=27.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12692061;dbSNPBuildID=121;ANN=G|intergenic_region|MODIFIER|POTEKP-LINC01087|POTEKP-LINC01087|intergenic_region|POTEKP-LINC01087|||n.131627110T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4908;p3_1000G_AF=0.980032;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19717;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132384683;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:131627109_T_C:1935,129,0
chr2	131829263	rs199980894	A	AG	427.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.68;MQRankSum=-0.991;QD=18.6;ReadPosRankSum=0.551;SOR=0.646;INS;HET;VARTYPE=INS;dbSNP138_ID=rs199980894;dbSNPBuildID=137;ANN=AG|intergenic_region|MODIFIER|C2orf27B-ANKRD30BL|C2orf27B-ANKRD30BL|intergenic_region|C2orf27B-ANKRD30BL|||n.131829263_131829264insG||||||;p3_1000G_AA=|||unknown(NO_COVERAGE);p3_1000G_AC=1101;p3_1000G_AF=0.219848;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=12814;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132586836;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,15:23:99:465,0,216
chr2	131829281	rs4558626	C	T	335.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.827;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.59;MQRankSum=-1.032;QD=17.67;ReadPosRankSum=1.31;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4558626;dbSNPBuildID=134;ANN=T|intergenic_region|MODIFIER|C2orf27B-ANKRD30BL|C2orf27B-ANKRD30BL|intergenic_region|C2orf27B-ANKRD30BL|||n.131829281C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1101;p3_1000G_AF=0.219848;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=12552;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132586854;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:364,0,159
chr2	131829293	rs186960073	C	A	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.217;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.59;MQRankSum=-1.032;QD=18.41;ReadPosRankSum=0.635;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs186960073;dbSNPBuildID=135;ANN=A|intergenic_region|MODIFIER|C2orf27B-ANKRD30BL|C2orf27B-ANKRD30BL|intergenic_region|C2orf27B-ANKRD30BL|||n.131829293C>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=1101;p3_1000G_AF=0.219848;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=12222;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132586866;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:378,0,170
chr2	131829484	rs7369031	A	C	288.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.14;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7369031;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|C2orf27B-ANKRD30BL|C2orf27B-ANKRD30BL|intergenic_region|C2orf27B-ANKRD30BL|||n.131829484A>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=2775;p3_1000G_AF=0.554113;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=8185;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.3588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132587057;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:317,0,247
chr2	131836063	rs59199382	C	T	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.552;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.64;MQRankSum=-1.35;QD=11.81;ReadPosRankSum=0.529;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59199382;dbSNPBuildID=129;ANN=T|intergenic_region|MODIFIER|C2orf27B-ANKRD30BL|C2orf27B-ANKRD30BL|intergenic_region|C2orf27B-ANKRD30BL|||n.131836063C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=1895;p3_1000G_AF=0.378395;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=12441;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132593636;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3926;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,17:33:99:418,0,400
chr2	132148185	rs62165773	C	T	1601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=50.08;QD=29.12;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62165773;dbSNPBuildID=129;ANN=T|non_coding_transcript_exon_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027019.1|pseudogene|7/7|n.1133G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027020.2|pseudogene|5/5|n.831G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=687;p3_1000G_AF=0.137181;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=14746;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132905758;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1630,165,0
chr2	132153775	rs13415697	C	T	168.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.61;QD=28.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13415697;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027019.1|pseudogene|4/6|n.862-81G>A||||||,T|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027020.2|pseudogene|3/4|n.722+887G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1978;p3_1000G_AF=0.394968;p3_1000G_AFR_AF=0.6868;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=20537;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132911348;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:197,18,0
chr2	132153819	rs13431614	T	C	55.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.12;QD=27.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13431614;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027019.1|pseudogene|4/6|n.862-125A>G||||||,C|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027020.2|pseudogene|3/4|n.722+843A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1976;p3_1000G_AF=0.394569;p3_1000G_AFR_AF=0.6868;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=20770;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132911392;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0
chr2	132154569	rs4599170	T	G	109.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4599170;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027019.1|pseudogene|4/6|n.861+93A>C||||||,G|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027020.2|pseudogene|3/4|n.722+93A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1111;p3_1000G_AF=0.221845;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=14694;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132912142;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:137,12,0
chr2	132154644	rs557249755;rs79388922	T	TA	196.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.59;SOR=1.863;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs79388922;dbSNPBuildID=131,142;ANN=TA|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027019.1|pseudogene|4/6|n.861+17dupT||||||,TA|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027020.2|pseudogene|3/4|n.722+17dupT||||||;p3_1000G_AA=AAAAAAA|AAAAAAAA|AAAAAAAAA|cryptic_indel;p3_1000G_AC=2381;p3_1000G_AF=0.475439;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=14934;p3_1000G_EAS_AF=0.2679;p3_1000G_EUR_AF=0.5328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132912217;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.545;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:234,24,0
chr2	132156927	rs62161661	C	A	292.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=42.41;QD=32.53;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62161661;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027019.1|pseudogene|3/6|n.754+46G>T||||||,A|intron_variant|MODIFIER|ANKRD30BL|ANKRD30BL|transcript|NR_027020.2|pseudogene|2/4|n.615+46G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=670;p3_1000G_AF=0.133786;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=20709;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.0934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=132914500;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:321,27,0
chr2	132309476	rs2443274	T	C	339.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=55.32;QD=28.31;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2443274;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ZNF806|ZNF806|transcript|NM_001304449.1|protein_coding|2/3|c.15+153T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=4701;p3_1000G_AF=0.938698;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=16089;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133067049;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:368,36,0
chr2	132668339	rs2709533	C	T	811.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2709533;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding||c.*4950G>A|||||3460|,T|downstream_gene_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding||c.*4950G>A|||||3460|,T|intron_variant|MODIFIER|LYPD1|LYPD1|transcript|NM_001321234.1|protein_coding|3/3|c.238+61G>A||||||,T|intron_variant|MODIFIER|LYPD1|LYPD1|transcript|NM_001321235.1|protein_coding|2/2|c.34+61G>A||||||,T|intron_variant|MODIFIER|LYPD1|LYPD1|transcript|NM_144586.6|protein_coding|2/2|c.190+61G>A||||||,T|intron_variant|MODIFIER|LYPD1|LYPD1|transcript|NM_001077427.3|protein_coding|2/2|c.34+61G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2470;p3_1000G_AF=0.493211;p3_1000G_AFR_AF=0.3207;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=16845;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.5825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133425912;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:840,69,0
chr2	132668610	rs2709532	G	C	760.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2709532;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding||c.*4679C>G|||||3189|,C|downstream_gene_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding||c.*4679C>G|||||3189|,C|intron_variant|MODIFIER|LYPD1|LYPD1|transcript|NM_001321234.1|protein_coding|2/3|c.101-73C>G||||||,C|intron_variant|MODIFIER|LYPD1|LYPD1|transcript|NM_001321235.1|protein_coding|1/2|c.-104-73C>G||||||,C|intron_variant|MODIFIER|LYPD1|LYPD1|transcript|NM_144586.6|protein_coding|1/2|c.53-73C>G||||||,C|intron_variant|MODIFIER|LYPD1|LYPD1|transcript|NM_001077427.3|protein_coding|1/2|c.-104-73C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2480;p3_1000G_AF=0.495208;p3_1000G_AFR_AF=0.3343;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=13766;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133426183;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:789,63,0
chr2	132725615	rs201595732	G	A	639.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.121;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.308;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-0.971;SOR=0.986;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201595732;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|19/19|c.5713+12C>T||||||,A|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|17/17|c.1756+12C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16463;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133483188;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,24:47:99:668,0,561
chr2	132781078	rs72989577	C	T	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.903;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72989577;dbSNPBuildID=130;ANN=T|missense_variant|MODERATE|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|15/20|c.5023G>A|p.Asp1675Asn|5397/7594|5023/5730|1675/1909||,T|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1093-7184G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=167;p3_1000G_AF=0.0333466;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18236;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133538651;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=64,3730;ESP6500_AA_GTC=1,62,1834;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=92;ESP6500_EA_AC=52,8184;ESP6500_EA_GTC=0,52,4066;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207481.3:intron,NM_207363.2:missense;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132781078;ESP6500_GS=.,23;ESP6500_GTC=1,114,5900;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1093-7184G>A,NM_207363.2:c.5023G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(D1675N);ESP6500_MAF=0.6314,1.6869,0.9643;ESP6500_PH=.,possibly-damaging:0.76;ESP6500_TAC=116,11914	GT:AD:DP:GQ:PL	0/1:11,9:20:99:225,0,260
chr2	132781887	rs6717116	A	T	1153.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=3.321;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6717116;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/19|c.4871+53T>A||||||,T|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1093-7993T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2688;p3_1000G_AF=0.536741;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=19546;p3_1000G_EAS_AF=0.745;p3_1000G_EUR_AF=0.4702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133539460;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1182,105,0
chr2	132781993	rs6730282	G	A	2321.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.66;SOR=0.934;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6730282;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.4818C>T|p.His1606His|5192/7594|4818/5730|1606/1909||,A|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+8030C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2684;p3_1000G_AF=0.535942;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=19229;p3_1000G_EAS_AF=0.745;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133539566;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2018,1822;ESP6500_AA_GTC=541,936,443;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=241;ESP6500_EA_AC=4163,4107;ESP6500_EA_GTC=1053,2057,1025;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207481.3:intron,NM_207363.2:coding-synonymous;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132781993;ESP6500_GTC=1594,2993,1468;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+8030C>T,NM_207363.2:c.4818C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(H1606);ESP6500_MAF=49.6614,47.4479,48.9595;ESP6500_TAC=6181,5929	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2350,242,0
chr2	132783061	rs74900692	G	C	998.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.06;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=5.697;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.321;SOR=0.707;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74900692;dbSNPBuildID=132;ANN=C|synonymous_variant|LOW|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.3750C>G|p.Ser1250Ser|4124/7594|3750/5730|1250/1909||,C|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+6962C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=156;p3_1000G_AF=0.0311502;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17993;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133540634;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=13,3955;ESP6500_AA_GTC=0,13,1971;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=127;ESP6500_EA_AC=5,8327;ESP6500_EA_GTC=0,5,4161;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207481.3:intron,NM_207363.2:coding-synonymous;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132783061;ESP6500_GTC=0,18,6132;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+6962C>G,NM_207363.2:c.3750C>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(S1250);ESP6500_MAF=0.06,0.3276,0.1463;ESP6500_TAC=18,12282	GT:AD:DP:GQ:PL	0/1:43,38:81:99:1027,0,1350
chr2	132783534	rs16841277	T	A	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.187;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.918;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16841277;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.3277A>T|p.Asn1093Tyr|3651/7594|3277/5730|1093/1909||,A|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+6489A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=894;p3_1000G_AF=0.178514;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=17828;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133541107;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=280,3714;ESP6500_AA_GTC=13,254,1730;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=263;ESP6500_EA_AC=1972,6352;ESP6500_EA_GTC=218,1536,2408;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207481.3:intron,NM_207363.2:missense;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132783534;ESP6500_GS=.,143;ESP6500_GTC=231,1790,4138;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+6489A>T,NM_207363.2:c.3277A>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(N1093Y);ESP6500_MAF=23.6905,7.0105,18.2822;ESP6500_PH=.,probably-damaging:0.969;ESP6500_TAC=2252,10066	GT:AD:DP:GQ:PL	0/1:26,20:46:99:499,0,729
chr2	132783849	rs61746887	T	A	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=10.349;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.125;SOR=2.015;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61746887;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.2962A>T|p.Thr988Ser|3336/7594|2962/5730|988/1909||,A|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+6174A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=163;p3_1000G_AF=0.0325479;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17742;p3_1000G_EAS_AF=0.122;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133541422;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=30,3784;ESP6500_AA_GTC=0,30,1877;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=33;ESP6500_EA_AC=5,8241;ESP6500_EA_GTC=0,5,4118;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207481.3:intron,NM_207363.2:missense;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132783849;ESP6500_GS=.,58;ESP6500_GTC=0,35,5995;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+6174A>T,NM_207363.2:c.2962A>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(T988S);ESP6500_MAF=0.0606,0.7866,0.2902;ESP6500_PH=.,benign:0.001;ESP6500_TAC=35,12025	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,9:20:99:0|1:132783849_T_A:265,0,307
chr2	132783871	rs12691829	T	C	910.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.49;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12691829;dbSNPBuildID=121;ANN=C|synonymous_variant|LOW|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.2940A>G|p.Pro980Pro|3314/7594|2940/5730|980/1909||,C|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+6152A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3593;p3_1000G_AF=0.717452;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=17916;p3_1000G_EAS_AF=0.871;p3_1000G_EUR_AF=0.5219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133541444;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3075,691;ESP6500_AA_GTC=1280,515,88;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=30;ESP6500_EA_AC=4458,3756;ESP6500_EA_GTC=1234,1990,883;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207481.3:intron,NM_207363.2:coding-synonymous;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132783871;ESP6500_GTC=2514,2505,971;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+6152A>G,NM_207363.2:c.2940A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(P980);ESP6500_MAF=45.7268,18.3484,37.1202;ESP6500_TAC=7533,4447	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,19:19:63:1|1:132783849_T_A:939,63,0
chr2	132783881	rs12691830	A	G	1029.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12691830;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.2930T>C|p.Ile977Thr|3304/7594|2930/5730|977/1909||,G|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+6142T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3530;p3_1000G_AF=0.704872;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=17934;p3_1000G_EAS_AF=0.871;p3_1000G_EUR_AF=0.493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133541454;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3023,743;ESP6500_AA_GTC=1237,549,97;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=29;ESP6500_EA_AC=4236,3964;ESP6500_EA_GTC=1116,2004,980;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207481.3:intron,NM_207363.2:missense;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132783881;ESP6500_GS=.,89;ESP6500_GTC=2353,2553,1077;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+6142T>C,NM_207363.2:c.2930T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(I977T);ESP6500_MAF=48.3415,19.7292,39.3365;ESP6500_PH=.,benign:0.0;ESP6500_TAC=7259,4707	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:72:1|1:132783849_T_A:1058,72,0
chr2	132784002	rs12611515	C	T	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.187;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=1.2;SOR=0.363;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12611515;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.2809G>A|p.Val937Ile|3183/7594|2809/5730|937/1909||,T|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+6021G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1867;p3_1000G_AF=0.372804;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=15512;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.2952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133541575;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1698,2154;ESP6500_AA_GTC=418,862,646;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=3.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=18;ESP6500_EA_AC=2375,5867;ESP6500_EA_GTC=371,1633,2117;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207481.3:intron,NM_207363.2:missense;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132784002;ESP6500_GS=.,29;ESP6500_GTC=789,2495,2763;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+6021G>A,NM_207363.2:c.2809G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(V937I);ESP6500_MAF=28.8158,44.081,33.6779;ESP6500_PH=.,benign:0.003;ESP6500_TAC=4073,8021	GT:AD:DP:GQ:PL	0/1:24,16:40:99:414,0,719
chr2	132784441	rs12616282	T	C	2401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.068;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12616282;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.2370A>G|p.Ala790Ala|2744/7594|2370/5730|790/1909||,C|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+5582A>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=3548;p3_1000G_AF=0.708466;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=18099;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133542014;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3005,761;ESP6500_AA_GTC=1211,583,89;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=134;ESP6500_EA_AC=4348,3894;ESP6500_EA_GTC=1139,2070,912;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207481.3:intron,NM_207363.2:coding-synonymous;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132784441;ESP6500_GTC=2350,2653,1001;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+5582A>G,NM_207363.2:c.2370A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(A790);ESP6500_MAF=47.2458,20.2071,38.7658;ESP6500_TAC=7353,4655	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2430,237,0
chr2	132784972	rs10191147	G	A	1616.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.05;ClippingRankSum=0;DP=123;ExcessHet=3.0103;FS=0.667;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.482;SOR=0.667;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10191147;dbSNPBuildID=119;ANN=A|sequence_feature|MODERATE|NCKAP5|NCKAP5|modified-residue:phosphoserine|NM_207363.2|protein_coding|14/20|c.1839C>T||||||,A|synonymous_variant|LOW|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.1839C>T|p.Ser613Ser|2213/7594|1839/5730|613/1909||,A|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+5051C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1771;p3_1000G_AF=0.353634;p3_1000G_AFR_AF=0.4395;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=19890;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.2555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133542545;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1619,2279;ESP6500_AA_GTC=361,897,691;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=-0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=65;ESP6500_EA_AC=2185,6087;ESP6500_EA_GTC=287,1611,2238;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207481.3:intron,NM_207363.2:coding-synonymous;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132784972;ESP6500_GTC=648,2508,2929;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+5051C>T,NM_207363.2:c.1839C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(S613);ESP6500_MAF=26.4144,41.5341,31.2572;ESP6500_TAC=3804,8366	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1645,0,1551
chr2	132785001	rs61995744	C	T	1600.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.141;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=2.369;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.495;SOR=0.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61995744;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|14/20|c.1810G>A|p.Val604Met|2184/7594|1810/5730|604/1909||,T|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|13/17|c.1092+5022G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=896;p3_1000G_AF=0.178914;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=20790;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133542574;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=291,3653;ESP6500_AA_GTC=10,271,1691;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=71;ESP6500_EA_AC=1955,6347;ESP6500_EA_GTC=213,1529,2409;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207481.3:intron,NM_207363.2:missense;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132785001;ESP6500_GS=.,21;ESP6500_GTC=223,1800,4100;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.1092+5022G>A,NM_207363.2:c.1810G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_207363.2:p.(V604M);ESP6500_MAF=23.5485,7.3783,18.3407;ESP6500_PH=.,benign:0.001;ESP6500_TAC=2246,10000	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1629,0,1481
chr2	132790264	rs12620276	A	C	260.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.514;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12620276;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|12/19|c.910-59T>G||||||,C|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|12/17|c.910-59T>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=219;p3_1000G_AF=0.04373;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=21636;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133547837;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:289,0,257
chr2	132796715	rs1868076	A	G	1291.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=0.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1868076;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|12/20|c.822T>C|p.Arg274Arg|1196/7594|822/5730|274/1909||,G|synonymous_variant|LOW|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|12/18|c.822T>C|p.Arg274Arg|1196/3637|822/1773|274/590||;p3_1000G_AA=G|||;p3_1000G_AC=3459;p3_1000G_AF=0.690695;p3_1000G_AFR_AF=0.7126;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=18207;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.5398;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133554288;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2616,1088;ESP6500_AA_GTC=925,766,161;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=61;ESP6500_EA_AC=4500,3706;ESP6500_EA_GTC=1232,2036,835;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207481.3:coding-synonymous,NM_207363.2:coding-synonymous;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132796715;ESP6500_GTC=2157,2802,996;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.822T>C,NM_207363.2:c.822T>C;ESP6500_HGVS_PROTEIN_VAR=NM_207481.3:p.(R274),NM_207363.2:p.(R274);ESP6500_MAF=45.1621,29.3737,40.2519;ESP6500_TAC=7116,4794	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1320,123,0
chr2	132860647	rs1447549	A	G	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.95;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.736;SOR=2.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1447549;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|10/19|c.688-36T>C||||||,G|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|10/17|c.688-36T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1692;p3_1000G_AF=0.337859;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=19888;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.2237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133618220;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1235,2453;ESP6500_AA_GTC=201,833,810;ESP6500_CDS_SIZES=NM_207481.3:1773,NM_207363.2:5730;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=66;ESP6500_EA_AC=1790,6348;ESP6500_EA_GTC=204,1382,2483;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207481.3:intron,NM_207363.2:intron;ESP6500_GL=NCKAP5;ESP6500_GRCh38_POSITION=2:132860647;ESP6500_GTC=405,2215,3293;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207481.3:c.688-36T>C,NM_207363.2:c.688-36T>C;ESP6500_MAF=21.9956,33.487,25.5792;ESP6500_TAC=3025,8801	GT:AD:DP:GQ:PL	0/1:8,8:16:99:293,0,202
chr2	132869133	rs17326258	T	C	149.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17326258;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207363.2|protein_coding|9/19|c.649-159A>G||||||,C|intron_variant|MODIFIER|NCKAP5|NCKAP5|transcript|NM_207481.3|protein_coding|9/17|c.649-159A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2829;p3_1000G_AF=0.564896;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=18887;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=133626706;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:178,15,0
chr2	134318540	rs4954134	C	G	363.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.3;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4954134;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MGAT5|MGAT5|transcript|NM_002410.4|protein_coding|3/15|c.484-110C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4797;p3_1000G_AF=0.957867;p3_1000G_AFR_AF=0.8616;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=19488;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135076111;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:392,30,0
chr2	134341573	rs2290047	G	A	481.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.676;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.084;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290047;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|MGAT5|MGAT5|transcript|NM_002410.4|protein_coding|6/15|c.808-17G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=474;p3_1000G_AF=0.0946486;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=19712;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135099144;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0573;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=179,4227;ESP6500_AA_AGE=115.4+/-153.4;ESP6500_AA_GTC=1,177,2025;ESP6500_CDS_SIZES=NM_002410.4:2226;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=100;ESP6500_EA_AC=68,8532;ESP6500_EA_AGE=40.8+/-97.7;ESP6500_EA_GTC=1,66,4233;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002410.4:intron;ESP6500_GL=MGAT5;ESP6500_GRCh38_POSITION=2:134341573;ESP6500_GTC=2,243,6258;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002410.4:c.808-17G>A;ESP6500_MAF=0.7907,4.0626,1.8991;ESP6500_TAC=247,12759	GT:AD:DP:GQ:PL	0/1:18,21:39:99:510,0,542
chr2	134344882	rs3214771;rs397719490	TA	T	227.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.834;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.086;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3214771;dbSNPBuildID=134,138;ANN=T|intron_variant|MODIFIER|MGAT5|MGAT5|transcript|NM_002410.4|protein_coding|7/15|c.978-45delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAA|AAA|AA|deletion;p3_1000G_AC=1462;p3_1000G_AF=0.291933;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=19284;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.3171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135102453;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=INDEL;ESP6500_AA_AC=1119,3147;ESP6500_AA_GTC=153,813,1167;ESP6500_CDS_SIZES=NM_002410.4:2226;ESP6500_CG=4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=46;ESP6500_EA_AC=2522,5730;ESP6500_EA_GTC=422,1678,2026;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002410.4:intron;ESP6500_GL=MGAT5;ESP6500_GRCh38_POSITION=2:134344882;ESP6500_GTC=575,2491,3193;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002410.4:c.978-47del1;ESP6500_MAF=30.5623,26.2307,29.0861;ESP6500_TAC=3641,8877	GT:AD:DP:GQ:PL	0/1:9,9:18:99:265,0,267
chr2	134345171	rs2290048	A	G	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.1;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=6.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.151;SOR=3.312;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290048;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MGAT5|MGAT5|transcript|NM_002410.4|protein_coding|8/15|c.1112+107A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1465;p3_1000G_AF=0.292532;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=20461;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.3161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135102742;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:278,0,255
chr2	134362463	rs11883785	A	C	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.55;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=7.141;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=0.378;SOR=2.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11883785;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MGAT5|MGAT5|transcript|NM_002410.4|protein_coding|10/15|c.1380+55A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=940;p3_1000G_AF=0.1877;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=21158;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135120034;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,7:30:99:178,0,588
chr2	134422955	rs2289466	A	G	641.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289466;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MGAT5|MGAT5|transcript|NM_002410.4|protein_coding|13/15|c.1794+36A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=363;p3_1000G_AF=0.072484;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=22542;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135180526;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=248,4158;ESP6500_AA_AGE=143.5+/-178.5;ESP6500_AA_GTC=6,236,1961;ESP6500_CDS_SIZES=NM_002410.4:2226;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=74;ESP6500_EA_AC=270,8330;ESP6500_EA_AGE=103.3+/-164.5;ESP6500_EA_GTC=3,264,4033;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002410.4:intron;ESP6500_GL=MGAT5;ESP6500_GRCh38_POSITION=2:134422955;ESP6500_GTC=9,500,5994;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002410.4:c.1794+36A>G;ESP6500_MAF=3.1395,5.6287,3.9828;ESP6500_TAC=518,12488	GT:AD:DP:GQ:PL	1/1:0,21:21:63:670,63,0
chr2	134456847	rs1413345773;rs199526049	A	AT	283.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.088;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.586;SOR=0.144;INS;HET;VARTYPE=INS;dbSNP138_ID=rs199526049;dbSNPBuildID=151,137;ANN=AT|downstream_gene_variant|MODIFIER|MGAT5|MGAT5|transcript|NM_002410.4|protein_coding||c.*8000_*8001insT|||||2227|,AT|intron_variant|MODIFIER|TMEM163|TMEM163|transcript|NM_030923.4|protein_coding|7/7|c.810-72dupA||||||	GT:AD:DP:GQ:PL	0/1:10,14:24:99:321,0,210
chr2	134946080	rs201814332;rs571972480	G	GT	37.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.894;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=-1.433;SOR=0.797;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201814332;dbSNPBuildID=137,142;ANN=GT|splice_region_variant&intron_variant|LOW|CCNT2|CCNT2|transcript|NM_058241.2|protein_coding|5/8|c.494-8dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|CCNT2|CCNT2|transcript|NM_001241.3|protein_coding|5/9|c.494-8dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|CCNT2|CCNT2|transcript|NM_001320748.1|protein_coding|6/9|c.62-8dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|CCNT2|CCNT2|transcript|NM_001320749.1|protein_coding|6/9|c.-32-8dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|CCNT2|CCNT2|transcript|NR_037649.1|pseudogene|6/10|n.614-8dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|CCNT2|CCNT2|transcript|NR_135468.1|pseudogene|6/9|n.614-8dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:57,12:69:75:75,0,1325
chr2	134947988	rs1979033	G	A	341.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1979033;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|CCNT2|CCNT2|transcript|NM_058241.2|protein_coding|7/8|c.703+89G>A||||||,A|intron_variant|MODIFIER|CCNT2|CCNT2|transcript|NM_001241.3|protein_coding|7/9|c.703+89G>A||||||,A|intron_variant|MODIFIER|CCNT2|CCNT2|transcript|NM_001320748.1|protein_coding|8/9|c.271+89G>A||||||,A|intron_variant|MODIFIER|CCNT2|CCNT2|transcript|NM_001320749.1|protein_coding|8/9|c.178+89G>A||||||,A|intron_variant|MODIFIER|CCNT2|CCNT2|transcript|NR_037649.1|pseudogene|8/10|n.823+89G>A||||||,A|intron_variant|MODIFIER|CCNT2|CCNT2|transcript|NR_135468.1|pseudogene|8/9|n.1142+89G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4411;p3_1000G_AF=0.880791;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=19674;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.6173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135705558;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:370,30,0
chr2	134985695	rs539519987	AT	A	25.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.44;ReadPosRankSum=0.967;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_025052.4|protein_coding|7/9|c.3072+104delA||||||,A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_001018044.2|protein_coding|5/7|c.2733+104delA||||||,A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_001018046.2|protein_coding|6/8|c.619-1871delA||||||,A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_001018047.2|protein_coding|6/8|c.619-1871delA||||||,A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_001282883.1|protein_coding|6/7|c.619-4178delA||||||,A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_001321177.1|protein_coding|7/9|c.3123+104delA||||||;p3_1000G_AA=TT|TT|T|deletion;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19174;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135743265;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,2:4:63:63,0,63
chr2	134987559	rs16831235	G	A	1083.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.725;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=5.351;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.268;SOR=0.774;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16831235;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|MAP3K19|MAP3K19|transcript|NM_025052.4|protein_coding|7/10|c.1313C>T|p.Thr438Ile|1344/4377|1313/3987|438/1328||,A|missense_variant|MODERATE|MAP3K19|MAP3K19|transcript|NM_001018044.2|protein_coding|5/8|c.974C>T|p.Thr325Ile|1005/4038|974/3648|325/1215||,A|missense_variant|MODERATE|MAP3K19|MAP3K19|transcript|NM_001321177.1|protein_coding|7/10|c.1364C>T|p.Thr455Ile|1484/4350|1364/3459|455/1152||,A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_001018046.2|protein_coding|6/8|c.619-3734C>T||||||,A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_001018047.2|protein_coding|6/8|c.619-3734C>T||||||,A|intron_variant|MODIFIER|MAP3K19|MAP3K19|transcript|NM_001282883.1|protein_coding|6/7|c.618+3978C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=663;p3_1000G_AF=0.132388;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=20720;p3_1000G_EAS_AF=0.122;p3_1000G_EUR_AF=0.2028;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135745129;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=283,4123;ESP6500_AA_AGE=156.3+/-189.4;ESP6500_AA_GTC=10,263,1930;ESP6500_CDS_SIZES=NM_025052.3:3987,NM_001018046.1:1533;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=102;ESP6500_EA_AC=1408,7192;ESP6500_EA_AGE=270.2+/-288.9;ESP6500_EA_GTC=141,1126,3033;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025052.3:missense,NM_001018046.1:intron;ESP6500_GL=YSK4;ESP6500_GRCh38_POSITION=2:134987559;ESP6500_GS=89,.;ESP6500_GTC=151,1389,4963;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025052.3:c.1313C>T,NM_001018046.1:c.619-3734C>T;ESP6500_HGVS_PROTEIN_VAR=NM_025052.3:p.(T438I),.;ESP6500_MAF=16.3721,6.4231,13.0017;ESP6500_PH=possibly-damaging:0.942,.;ESP6500_TAC=1691,11315	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1112,0,1210
chr2	135130508	rs6729072	G	T	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.719;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.214;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6729072;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RAB3GAP1|RAB3GAP1|transcript|NM_001172435.1|protein_coding|12/24|c.1067-44G>T||||||,T|intron_variant|MODIFIER|RAB3GAP1|RAB3GAP1|transcript|NM_012233.2|protein_coding|12/23|c.1067-44G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=545;p3_1000G_AF=0.108826;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=16219;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135888078;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1208,3092;ESP6500_AA_GTC=189,830,1131;ESP6500_CDS_SIZES=NM_012233.2:2946,NM_001172435.1:2967;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=15;ESP6500_EA_AC=175,8357;ESP6500_EA_GTC=4,167,4095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012233.2:intron,NM_001172435.1:intron;ESP6500_GL=RAB3GAP1;ESP6500_GRCh38_POSITION=2:135130508;ESP6500_GTC=193,997,5226;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_012233.2:c.1067-44G>T,NM_001172435.1:c.1067-44G>T;ESP6500_MAF=2.0511,28.093,10.7777;ESP6500_TAC=1383,11449	GT:AD:DP:GQ:PL	0/1:6,9:15:99:237,0,216
chr2	135153852	rs17261772;130067	T	C	1333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17261772;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|RAB3GAP1|RAB3GAP1|transcript|NM_001172435.1|protein_coding|19/25|c.2265T>C|p.Phe755Phe|2308/4938|2265/2967|755/988||,C|synonymous_variant|LOW|RAB3GAP1|RAB3GAP1|transcript|NM_012233.2|protein_coding|19/24|c.2265T>C|p.Phe755Phe|2308/4917|2265/2946|755/981||;p3_1000G_AA=C|||;p3_1000G_AC=3940;p3_1000G_AF=0.786741;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=19434;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.4145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135911422;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3724,682;ESP6500_AA_GTC=1586,552,65;ESP6500_CDS_SIZES=NM_012233.2:2946,NM_001172435.1:2967;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=94;ESP6500_EA_AC=2658,5942;ESP6500_EA_GTC=505,1648,2147;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012233.2:coding-synonymous,NM_001172435.1:coding-synonymous;ESP6500_GL=RAB3GAP1;ESP6500_GRCh38_POSITION=2:135153852;ESP6500_GTC=2091,2200,2212;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012233.2:c.2265T>C,NM_001172435.1:c.2265T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012233.2:p.(F755),NM_001172435.1:p.(F755);ESP6500_MAF=30.907,15.4789,49.0697;ESP6500_TAC=6382,6624;CLINVAR_AF_ESP=0.4907;CLINVAR_ALLELEID=135513;CLINVAR_CLNDISDB=MedGen:C1838625,OMIM:600118|MedGen:CN158709,Orphanet:ORPHA2510|MedGen:CN169374;CLINVAR_CLNDN=Warburg_micro_syndrome_1|Warburg_micro_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.135153852T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25978;CLINVAR_GENEINFO=RAB3GAP1:22930;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17261772	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1362,126,0
chr2	135162521	rs16831377	C	T	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.466;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.999;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16831377;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|RAB3GAP1|RAB3GAP1|transcript|NM_001172435.1|protein_coding|19/24|c.2290-34C>T||||||,T|intron_variant|MODIFIER|RAB3GAP1|RAB3GAP1|transcript|NM_012233.2|protein_coding|19/23|c.2290-34C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=345;p3_1000G_AF=0.0688898;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=14425;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135920091;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=794,3612;ESP6500_AA_AGE=301.3+/-286.8;ESP6500_AA_GTC=86,622,1495;ESP6500_CDS_SIZES=NM_012233.2:2946,NM_001172435.1:2967;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=24;ESP6500_EA_AC=178,8422;ESP6500_EA_AGE=78.4+/-141.0;ESP6500_EA_GTC=2,174,4124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012233.2:intron,NM_001172435.1:intron;ESP6500_GL=RAB3GAP1;ESP6500_GRCh38_POSITION=2:135162521;ESP6500_GTC=88,796,5619;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012233.2:c.2290-34C>T,NM_001172435.1:c.2290-34C>T;ESP6500_MAF=2.0698,18.0209,7.4735;ESP6500_TAC=972,12034	GT:AD:DP:GQ:PL	0/1:8,8:16:99:214,0,186
chr2	135162538	rs56786863;138860	C	T	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.71;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=1.32;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56786863;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|RAB3GAP1|RAB3GAP1|transcript|NM_001172435.1|protein_coding|19/24|c.2290-17C>T||||||,T|intron_variant|MODIFIER|RAB3GAP1|RAB3GAP1|transcript|NM_012233.2|protein_coding|19/23|c.2290-17C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=289;p3_1000G_AF=0.0577077;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=14674;p3_1000G_EAS_AF=0.0476;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135920108;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=633,3773;ESP6500_AA_AGE=268.3+/-268.4;ESP6500_AA_GTC=50,533,1620;ESP6500_CDS_SIZES=NM_012233.2:2946,NM_001172435.1:2967;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=33;ESP6500_EA_AC=186,8414;ESP6500_EA_AGE=81.5+/-144.1;ESP6500_EA_GTC=3,180,4117;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012233.2:intron,NM_001172435.1:intron;ESP6500_GL=RAB3GAP1;ESP6500_GRCh38_POSITION=2:135162538;ESP6500_GTC=53,713,5737;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012233.2:c.2290-17C>T,NM_001172435.1:c.2290-17C>T;ESP6500_MAF=2.1628,14.3668,6.2971;ESP6500_TAC=819,12187;CLINVAR_AF_ESP=0.0630;CLINVAR_AF_EXAC=0.04927;CLINVAR_AF_TGP=0.0577;CLINVAR_ALLELEID=142563;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.135162538C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RAB3GAP1:22930;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56786863	GT:AD:DP:GQ:PL	0/1:10,9:19:99:200,0,253
chr2	135169858	rs16831395;331146	T	C	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.02;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=0.638;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16831395;dbSNPBuildID=123;ANN=C|3_prime_UTR_variant|MODIFIER|RAB3GAP1|RAB3GAP1|transcript|NM_001172435.1|protein_coding|25/25|c.*1077T>C|||||1077|,C|3_prime_UTR_variant|MODIFIER|RAB3GAP1|RAB3GAP1|transcript|NM_012233.2|protein_coding|24/24|c.*1077T>C|||||1077|;p3_1000G_AA=T|||;p3_1000G_AC=283;p3_1000G_AF=0.0565096;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=15321;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135927428;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.0565;CLINVAR_ALLELEID=284128;CLINVAR_CLNDISDB=MedGen:CN158709,Orphanet:ORPHA2510;CLINVAR_CLNDN=Warburg_micro_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.135169858T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53636;CLINVAR_GENEINFO=RAB3GAP1:22930|ZRANB3:84083;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=16831395	GT:AD:DP:GQ:PL	0/1:11,4:15:99:126,0,330
chr2	135202983	rs16831434	T	A	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.25;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=0.711;SOR=1.52;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16831434;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|19/20|c.3010-20A>T||||||,A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|19/20|c.3004-20A>T||||||,A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|20/21|c.1648-20A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=298;p3_1000G_AF=0.0595048;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=19577;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135960553;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=537,3157;ESP6500_AA_GTC=41,455,1351;ESP6500_CDS_SIZES=NM_032143.2:3240;ESP6500_CG=4.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=40;ESP6500_EA_AC=165,8027;ESP6500_EA_GTC=3,159,3934;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032143.2:intron;ESP6500_GL=ZRANB3;ESP6500_GRCh38_POSITION=2:135202983;ESP6500_GTC=44,614,5285;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_032143.2:c.3010-20A>T;ESP6500_MAF=2.0142,14.5371,5.9061;ESP6500_TAC=702,11184	GT:AD:DP:GQ:PL	0/1:25,13:38:99:319,0,597
chr2	135203046	rs57097780	G	A	19.81	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.282;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.2;ReadPosRankSum=0.674;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57097780;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|19/20|c.3010-83C>T||||||,A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|19/20|c.3004-83C>T||||||,A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|20/21|c.1648-83C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=298;p3_1000G_AF=0.0595048;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=18795;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135960616;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:48:48,0,186
chr2	135207806	rs7578111	T	C	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-1.226;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7578111;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|19/21|c.2637A>G|p.Pro879Pro|2754/6730|2637/3240|879/1079||,C|synonymous_variant|LOW|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|19/21|c.2631A>G|p.Pro877Pro|2843/6819|2631/3234|877/1077||,C|synonymous_variant|LOW|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|20/22|c.1275A>G|p.Pro425Pro|2972/6948|1275/1878|425/625||;p3_1000G_AA=T|||;p3_1000G_AC=1365;p3_1000G_AF=0.272564;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=21232;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.1352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135965376;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1200,2594;ESP6500_AA_GTC=199,802,896;ESP6500_CDS_SIZES=NM_032143.2:3240;ESP6500_CG=-1.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=69;ESP6500_EA_AC=828,7430;ESP6500_EA_GTC=49,730,3350;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032143.2:coding-synonymous;ESP6500_GL=ZRANB3;ESP6500_GRCh38_POSITION=2:135207806;ESP6500_GTC=248,1532,4246;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032143.2:c.2637A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032143.2:p.(P879);ESP6500_MAF=10.0266,31.6289,16.8271;ESP6500_TAC=2028,10024	GT:AD:DP:GQ:PL	0/1:21,11:32:99:288,0,618
chr2	135219170	rs16831460	T	C	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.979;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.983;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16831460;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|16/21|c.2259A>G|p.Lys753Lys|2376/6730|2259/3240|753/1079||,C|synonymous_variant|LOW|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|16/21|c.2253A>G|p.Lys751Lys|2465/6819|2253/3234|751/1077||,C|synonymous_variant|LOW|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|17/22|c.897A>G|p.Lys299Lys|2594/6948|897/1878|299/625||;p3_1000G_AA=T|||;p3_1000G_AC=298;p3_1000G_AF=0.0595048;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=18227;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135976740;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=484,3092;ESP6500_AA_GTC=34,416,1338;ESP6500_CDS_SIZES=NM_032143.2:3240;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=36;ESP6500_EA_AC=153,7955;ESP6500_EA_GTC=3,147,3904;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032143.2:coding-synonymous;ESP6500_GL=ZRANB3;ESP6500_GRCh38_POSITION=2:135219170;ESP6500_GTC=37,563,5242;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032143.2:c.2259A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032143.2:p.(K753);ESP6500_MAF=1.887,13.5347,5.4519;ESP6500_TAC=637,11047	GT:AD:DP:GQ:PL	0/1:16,11:27:99:273,0,387
chr2	135230557	rs59900519	T	A	1850.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.678;ClippingRankSum=0;DP=158;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.004;SOR=0.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59900519;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|13/21|c.1910A>T|p.Glu637Val|2027/6730|1910/3240|637/1079||,A|missense_variant|MODERATE|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|13/21|c.1910A>T|p.Glu637Val|2122/6819|1910/3234|637/1077||,A|missense_variant|MODERATE|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|14/22|c.548A>T|p.Glu183Val|2245/6948|548/1878|183/625||;p3_1000G_AA=A|||;p3_1000G_AC=1379;p3_1000G_AF=0.275359;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=20848;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.1312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135988127;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1266,2642;ESP6500_AA_GTC=216,834,904;ESP6500_CDS_SIZES=NM_032143.2:3240;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=110;ESP6500_EA_AC=832,7476;ESP6500_EA_GTC=50,732,3372;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032143.2:missense;ESP6500_GL=ZRANB3;ESP6500_GRCh38_POSITION=2:135230557;ESP6500_GS=121;ESP6500_GTC=266,1566,4276;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_032143.2:c.1910A>T;ESP6500_HGVS_PROTEIN_VAR=NM_032143.2:p.(E637V);ESP6500_MAF=10.0144,32.3951,17.1742;ESP6500_PH=benign:0.0;ESP6500_TAC=2098,10118	GT:AD:DP:GQ:PL	0/1:81,76:157:99:1879,0,2205
chr2	135230846	rs935615	C	T	638.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.466;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.151;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.595;SOR=0.499;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs935615;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|13/21|c.1621G>A|p.Glu541Lys|1738/6730|1621/3240|541/1079||,T|missense_variant|MODERATE|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|13/21|c.1621G>A|p.Glu541Lys|1833/6819|1621/3234|541/1077||,T|missense_variant|MODERATE|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|14/22|c.259G>A|p.Glu87Lys|1956/6948|259/1878|87/625||;p3_1000G_AA=C|||;p3_1000G_AC=1329;p3_1000G_AF=0.265375;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=17479;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.1312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=135988416;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1148,2536;ESP6500_AA_GTC=187,774,881;ESP6500_CDS_SIZES=NM_032143.2:3240;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=91;ESP6500_EA_AC=819,7359;ESP6500_EA_GTC=49,721,3319;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032143.2:missense;ESP6500_GL=ZRANB3;ESP6500_GRCh38_POSITION=2:135230846;ESP6500_GS=56;ESP6500_GTC=236,1495,4200;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032143.2:c.1621G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032143.2:p.(E541K);ESP6500_MAF=10.0147,31.1618,16.5824;ESP6500_PH=benign:0.008;ESP6500_TAC=1967,9895	GT:AD:DP:GQ:PL	0/1:19,28:47:99:667,0,536
chr2	135315641	rs737388	T	C	271.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.97;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs737388;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|6/20|c.678-111A>G||||||,C|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|6/20|c.678-111A>G||||||,C|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|6/21|c.-780-111A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=299;p3_1000G_AF=0.0597045;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=20844;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136073211;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:300,24,0
chr2	135350269	rs10496734	G	A	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.44;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=1.14;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10496734;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|4/20|c.360-54C>T||||||,A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|4/20|c.360-54C>T||||||,A|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|4/21|c.-1098-54C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1343;p3_1000G_AF=0.268171;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=18626;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.1312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136107839;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,3:12:77:77,0,312
chr2	135390831	rs2043757	A	T	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.494;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=1.8;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2043757;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_032143.3|protein_coding|2/20|c.162-11T>A||||||,T|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286568.1|protein_coding|2/20|c.162-11T>A||||||,T|intron_variant|MODIFIER|ZRANB3|ZRANB3|transcript|NM_001286569.1|protein_coding|2/21|c.-1296-11T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1368;p3_1000G_AF=0.273163;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=17415;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0.1292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136148401;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1339,2213;ESP6500_AA_GTC=358,623,795;ESP6500_CDS_SIZES=NM_032143.2:3240;ESP6500_CG=-5.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=23;ESP6500_EA_AC=400,7660;ESP6500_EA_GTC=40,320,3670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032143.2:intron;ESP6500_GL=ZRANB3;ESP6500_GRCh38_POSITION=2:135390831;ESP6500_GTC=398,943,4465;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_032143.2:c.162-11T>A;ESP6500_MAF=4.9628,37.6971,14.9759;ESP6500_TAC=1739,9873	GT:AD:DP:GQ:PL	0/1:7,8:15:99:177,0,217
chr2	135649909	rs1446585	A	G	2387.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.61;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1446585;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282798.1|protein_coding|16/25|c.1624-1821A>G||||||,G|intron_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282799.1|protein_coding|13/22|c.1237-1821A>G||||||,G|intron_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_015361.3|protein_coding|16/25|c.1624-1824A>G||||||,G|intron_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282800.1|protein_coding|13/22|c.1456-1821A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4057;p3_1000G_AF=0.810104;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=16186;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.4612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136407479;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2416,234,0
chr2	135709594	rs2304367	C	A	1146.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=5.486;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304367;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282798.1|protein_coding|21/25|c.2461+58C>A||||||,A|intron_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282799.1|protein_coding|18/22|c.2074+58C>A||||||,A|intron_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_015361.3|protein_coding|21/25|c.2458+58C>A||||||,A|intron_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282800.1|protein_coding|18/22|c.2293+58C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4802;p3_1000G_AF=0.958866;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20767;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136467164;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1175,93,0
chr2	135724376	rs3832058	CATT	C	502.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.097;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.52;ReadPosRankSum=0.085;SOR=1.739;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3832058;dbSNPBuildID=107;ANN=C|3_prime_UTR_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282798.1|protein_coding|26/26|c.*87_*89delTAT|||||87|INFO_REALIGN_3_PRIME,C|3_prime_UTR_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282799.1|protein_coding|23/23|c.*87_*89delTAT|||||87|INFO_REALIGN_3_PRIME,C|3_prime_UTR_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_015361.3|protein_coding|26/26|c.*87_*89delTAT|||||87|INFO_REALIGN_3_PRIME,C|3_prime_UTR_variant|MODIFIER|R3HDM1|R3HDM1|transcript|NM_001282800.1|protein_coding|23/23|c.*87_*89delTAT|||||87|INFO_REALIGN_3_PRIME;p3_1000G_AC=38;p3_1000G_AF=0.00758786;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17850;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136481946;p3_1000G_GRCH37_REF=CATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,13:15:66:540,0,66
chr2	135741888	rs111798914	G	A	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=1.11;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111798914;dbSNPBuildID=130;ANN=A|5_prime_UTR_variant|MODIFIER|UBXN4|UBXN4|transcript|NM_014607.3|protein_coding|1/13|c.-42G>A|||||42|;p3_1000G_AA=G|||;p3_1000G_AC=281;p3_1000G_AF=0.0561102;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=12295;p3_1000G_EAS_AF=0.0476;p3_1000G_EUR_AF=0.0298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136499458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=437,3391;ESP6500_AA_GTC=25,387,1502;ESP6500_CDS_SIZES=NM_014607.3:1527;ESP6500_CG=-0.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=15;ESP6500_EA_AC=182,8008;ESP6500_EA_GTC=3,176,3916;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014607.3:utr-5;ESP6500_GL=UBXN4;ESP6500_GRCh38_POSITION=2:135741888;ESP6500_GTC=28,563,5418;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014607.3:c.-42G>A;ESP6500_MAF=2.2222,11.4159,5.1506;ESP6500_TAC=619,11399	GT:AD:DP:GQ:PL	0/1:8,6:14:99:153,0,179
chr2	135769873	rs113881162;~rs67896933	G	GTGAT	231.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.32;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.305;SOR=1.015;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113881162;dbSNPBuildID=132;ANN=GTGAT|intron_variant|MODIFIER|UBXN4|UBXN4|transcript|NM_014607.3|protein_coding|7/12|c.657+56_657+59dupGATT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1809;p3_1000G_AF=0.361222;p3_1000G_AFR_AF=0.1195;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=18761;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.6133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136527443;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3364;p3_1000G_VT=INDEL;ESP6500_AA_AC=863,2849;ESP6500_AA_GTC=121,621,1114;ESP6500_CDS_SIZES=NM_014607.3:1527;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=141;ESP6500_EA_AC=5666,2218;ESP6500_EA_GTC=2115,1436,391;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014607.3:intron;ESP6500_GL=UBXN4;ESP6500_GRCh38_POSITION=2:135769873;ESP6500_GTC=2236,2057,1505;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014607.3:c.657+50_657+51insTGAT;ESP6500_MAF=28.1329,23.2489,43.6961;ESP6500_TAC=6529,5067	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,8:30:99:0|1:135769873_G_GTGAT:269,0,1206
chr2	135788274	rs1042712;331159	C	G	3555.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=105;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=1.458;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1042712;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|17/17|c.*50G>C|||||50|,G|downstream_gene_variant|MODIFIER|UBXN4|UBXN4|transcript|NM_014607.3|protein_coding||c.*5387C>G|||||3211|;p3_1000G_AA=G|||;p3_1000G_AC=3704;p3_1000G_AF=0.739617;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=19716;p3_1000G_EAS_AF=0.7897;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136545844;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3127,1279;ESP6500_AA_AGE=433.9+/-343.8;ESP6500_AA_GTC=1103,921,179;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=113;ESP6500_EA_AC=7120,1480;ESP6500_EA_AGE=280.9+/-294.7;ESP6500_EA_GTC=2977,1166,157;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:utr-3;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135788274;ESP6500_GTC=4080,2087,336;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.*50G>C;ESP6500_MAF=17.2093,29.0286,21.2133;ESP6500_TAC=10247,2759;CLINVAR_ALLELEID=281846;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135788274C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25816;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1042712	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3584,315,0
chr2	135788540	rs2278544;331164	A	G	2043.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.06;SOR=2.722;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278544;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|LCT|LCT|transcript|NM_002299.3|protein_coding|17/17|c.5568T>C|p.Ala1856Ala|5579/6279|5568/5784|1856/1927||,G|downstream_gene_variant|MODIFIER|UBXN4|UBXN4|transcript|NM_014607.3|protein_coding||c.*5653A>G|||||3477|;p3_1000G_AA=A|||;p3_1000G_AC=2211;p3_1000G_AF=0.441494;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=17785;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.6561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136546110;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1734,2672;ESP6500_AA_AGE=519.9+/-370.1;ESP6500_AA_GTC=326,1082,795;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=85;ESP6500_EA_AC=6466,2134;ESP6500_EA_AGE=715.2+/-406.0;ESP6500_EA_GTC=2479,1508,313;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:coding-synonymous;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135788540;ESP6500_GTC=2805,2590,1108;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.5568T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002299.2:p.(A1856);ESP6500_MAF=24.814,39.3554,36.9522;ESP6500_TAC=8200,4806;CLINVAR_AF_TGP=0.4415;CLINVAR_ALLELEID=284145;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135788540A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25828;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2278544	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2072,180,0
chr2	135790599	rs892716	A	G	779.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs892716;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|15/16|c.5335+59T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4804;p3_1000G_AF=0.959265;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=22791;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136548169;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:808,72,0
chr2	135790622	rs1808756	G	A	891.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1808756;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|15/16|c.5335+36C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4804;p3_1000G_AF=0.959265;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=22196;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136548192;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4006,400;ESP6500_AA_AGE=186.0+/-213.0;ESP6500_AA_GTC=1829,348,26;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=63;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:intron;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135790622;ESP6500_GTC=6127,350,26;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.5335+36C>T;ESP6500_MAF=0.0233,9.0785,3.0909;ESP6500_TAC=12604,402	GT:AD:DP:GQ:PL	1/1:0,30:30:90:920,90,0
chr2	135798089	rs2322659;331168	T	C	2212.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=0.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2322659;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|LCT|LCT|transcript|NM_002299.3|protein_coding|13/17|c.4916A>G|p.Asn1639Ser|4927/6279|4916/5784|1639/1927||;p3_1000G_AA=T|||;p3_1000G_AC=2217;p3_1000G_AF=0.442692;p3_1000G_AFR_AF=0.3011;p3_1000G_AMR_AF=0.4669;p3_1000G_AN=5008;p3_1000G_DP=19883;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.6382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136555659;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1794,2612;ESP6500_AA_GTC=346,1102,755;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=113;ESP6500_EA_AC=6240,2360;ESP6500_EA_GTC=2335,1570,395;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002299.2:missense;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135798089;ESP6500_GS=46;ESP6500_GTC=2681,2672,1150;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.4916A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002299.2:p.(N1639S);ESP6500_MAF=27.4419,40.7172,38.2285;ESP6500_PH=benign:0.013;ESP6500_TAC=8034,4972;CLINVAR_AF_TGP=0.4427;CLINVAR_ALLELEID=282507;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135798089T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25839|UniProtKB_(protein):P09848#VAR_026709;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2322659	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2241,195,0
chr2	135800587	rs748841	C	T	329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.001;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=0.394;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs748841;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|12/16|c.4866+20G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1864;p3_1000G_AF=0.372204;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=20606;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.5954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136558157;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1234,3172;ESP6500_AA_GTC=159,916,1128;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=92;ESP6500_EA_AC=5999,2601;ESP6500_EA_GTC=2178,1643,479;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:intron;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135800587;ESP6500_GTC=2337,2559,1607;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.4866+20G>A;ESP6500_MAF=30.2442,28.0073,44.3872;ESP6500_TAC=7233,5773	GT:AD:DP:GQ:PL	0/1:28,14:42:99:358,0,839
chr2	135803987	rs2304371;331172	G	A	707.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.242;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0.891;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.191;SOR=0.838;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304371;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|LCT|LCT|transcript|NM_002299.3|protein_coding|11/17|c.4606C>T|p.Leu1536Leu|4617/6279|4606/5784|1536/1927||;p3_1000G_AA=G|||;p3_1000G_AC=3306;p3_1000G_AF=0.660144;p3_1000G_AFR_AF=0.4047;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=20923;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.7485;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136561557;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2172,2234;ESP6500_AA_AGE=585.3+/-386.2;ESP6500_AA_GTC=536,1100,567;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=2.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=120;ESP6500_EA_AC=6875,1725;ESP6500_EA_AGE=737.2+/-407.0;ESP6500_EA_GTC=2785,1305,210;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:coding-synonymous;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135803987;ESP6500_GTC=3321,2405,777;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.4606C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002299.2:p.(L1536);ESP6500_MAF=20.0581,49.2964,30.4398;ESP6500_TAC=9047,3959;CLINVAR_ALLELEID=281859;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135803987G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25851;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2304371	GT:AD:DP:GQ:PL	0/1:41,31:72:99:736,0,1169
chr2	135804165	rs2304370	G	A	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.777;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=2.5;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304370;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|10/16|c.4465-37C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1358;p3_1000G_AF=0.271166;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=19595;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136561735;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1360,3046;ESP6500_AA_AGE=450.2+/-349.3;ESP6500_AA_GTC=198,964,1041;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=1715,6885;ESP6500_EA_AGE=311.8+/-310.5;ESP6500_EA_GTC=206,1303,2791;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:intron;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135804165;ESP6500_GTC=404,2267,3832;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.4465-37C>T;ESP6500_MAF=19.9419,30.867,23.6429;ESP6500_TAC=3075,9931	GT:AD:DP:GQ:PL	0/1:11,11:22:99:312,0,368
chr2	135807458	rs10928549	C	G	955.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10928549;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|8/16|c.3905-62G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19820;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136565028;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:984,72,0
chr2	135810063	rs6430591	A	G	63.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6430591;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|7/16|c.2354-70T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16586;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136567633;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:91,9,0
chr2	135812278	rs12988076	C	A	1020.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.529;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=2.296;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-0.084;SOR=1.031;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12988076;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|7/16|c.2353+33G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1784;p3_1000G_AF=0.35623;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=19908;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.5954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136569848;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1036,3370;ESP6500_AA_GTC=117,802,1284;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=79;ESP6500_EA_AC=5987,2607;ESP6500_EA_GTC=2177,1633,487;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:intron;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135812278;ESP6500_GTC=2294,2435,1771;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.2353+33G>T;ESP6500_MAF=30.3351,23.5134,45.9769;ESP6500_TAC=7023,5977	GT:AD:DP:GQ:PL	0/1:32,36:68:99:1049,0,881
chr2	135817398	rs35093754;331200	G	C	624.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.28;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.219;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35093754;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|LCT|LCT|transcript|NM_002299.3|protein_coding|6/17|c.1650C>G|p.Gly550Gly|1661/6279|1650/5784|550/1927||,C|upstream_gene_variant|MODIFIER|LOC100507600|LOC100507600|transcript|NR_045486.1|pseudogene||n.-2793G>C|||||2793|;p3_1000G_AA=G|||;p3_1000G_AC=251;p3_1000G_AF=0.0501198;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=16966;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136574968;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=483,3923;ESP6500_AA_AGE=226.2+/-241.8;ESP6500_AA_GTC=31,421,1751;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=82;ESP6500_EA_AC=186,8414;ESP6500_EA_AGE=82.3+/-144.9;ESP6500_EA_GTC=3,180,4117;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:coding-synonymous;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135817398;ESP6500_GTC=34,601,5868;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.1650C>G;ESP6500_HGVS_PROTEIN_VAR=NM_002299.2:p.(G550);ESP6500_MAF=2.1628,10.9623,5.1438;ESP6500_TAC=669,12337;CLINVAR_AF_ESP=0.0514;CLINVAR_AF_EXAC=0.03343;CLINVAR_AF_TGP=0.0501;CLINVAR_ALLELEID=284165;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135817398G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:97918;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35093754	GT:AD:DP:GQ:PL	0/1:23,22:45:99:653,0,631
chr2	135817629	rs6719488;331202	G	T	1047.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.476;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=1.695;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.076;SOR=0.598;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6719488;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|LCT|LCT|transcript|NM_002299.3|protein_coding|6/17|c.1419C>A|p.Gly473Gly|1430/6279|1419/5784|473/1927||,T|upstream_gene_variant|MODIFIER|LOC100507600|LOC100507600|transcript|NR_045486.1|pseudogene||n.-2562G>T|||||2562|;p3_1000G_AA=G|||;p3_1000G_AC=1783;p3_1000G_AF=0.35603;p3_1000G_AFR_AF=0.1195;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=18831;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.5954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136575199;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1040,3366;ESP6500_AA_GTC=120,800,1283;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=51;ESP6500_EA_AC=5998,2602;ESP6500_EA_GTC=2180,1638,482;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:coding-synonymous;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135817629;ESP6500_GTC=2300,2438,1765;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.1419C>A;ESP6500_HGVS_PROTEIN_VAR=NM_002299.2:p.(G473);ESP6500_MAF=30.2558,23.6042,45.8865;ESP6500_TAC=7038,5968;CLINVAR_AF_TGP=0.3560;CLINVAR_ALLELEID=284166;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135817629G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25861;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6719488	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1076,0,1249
chr2	135817964	rs4954449;331204	T	C	2135.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4954449;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|LCT|LCT|transcript|NM_002299.3|protein_coding|6/17|c.1084A>G|p.Ile362Val|1095/6279|1084/5784|362/1927||,C|upstream_gene_variant|MODIFIER|LOC100507600|LOC100507600|transcript|NR_045486.1|pseudogene||n.-2227T>C|||||2227|;p3_1000G_AA=C|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19450;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136575534;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4126,280;ESP6500_AA_AGE=146.5+/-181.1;ESP6500_AA_GTC=1938,250,15;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=5.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=71;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002299.2:missense;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135817964;ESP6500_GS=29;ESP6500_GTC=6237,251,15;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.1084A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002299.2:p.(I362V);ESP6500_MAF=0.0116,6.355,2.1605;ESP6500_PH=benign:0.0;ESP6500_TAC=12725,281;CLINVAR_ALLELEID=282521;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135817964T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25874|UniProtKB_(protein):P09848#VAR_026707;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4954449	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2164,201,0
chr2	135823784	rs895284	T	G	602.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.72;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs895284;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|LOC100507600|LOC100507600|transcript|NR_045486.1|pseudogene||n.*697T>G|||||697|,G|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|4/16|c.907+117A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19626;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136581354;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:631,57,0
chr2	135824115	rs3820791	G	C	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.923;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.545;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820791;dbSNPBuildID=107;ANN=C|downstream_gene_variant|MODIFIER|LOC100507600|LOC100507600|transcript|NR_045486.1|pseudogene||n.*1028G>C|||||1028|,C|intron_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding|3/16|c.805-112C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=282;p3_1000G_AF=0.0563099;p3_1000G_AFR_AF=0.1082;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=20312;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136581685;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:143,0,190
chr2	135829668	rs3816088;331206	G	C	508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.732;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.689;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816088;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|LCT|LCT|transcript|NM_002299.3|protein_coding|3/17|c.729C>G|p.Val243Val|740/6279|729/5784|243/1927||;p3_1000G_AA=G|||;p3_1000G_AC=252;p3_1000G_AF=0.0503195;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=17781;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136587238;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=479,3927;ESP6500_AA_AGE=224.9+/-240.9;ESP6500_AA_GTC=31,417,1755;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=126;ESP6500_EA_AC=190,8410;ESP6500_EA_AGE=83.4+/-145.9;ESP6500_EA_GTC=3,184,4113;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:coding-synonymous;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135829668;ESP6500_GTC=34,601,5868;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.729C>G;ESP6500_HGVS_PROTEIN_VAR=NM_002299.2:p.(V243);ESP6500_MAF=2.2093,10.8715,5.1438;ESP6500_TAC=669,12337;CLINVAR_AF_ESP=0.0514;CLINVAR_AF_EXAC=0.03358;CLINVAR_AF_TGP=0.0503;CLINVAR_ALLELEID=284428;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135829668G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:97940;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3816088	GT:AD:DP:GQ:PL	0/1:18,23:41:99:537,0,490
chr2	135836588	rs2236783;331210	G	A	1731.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.277;ClippingRankSum=0;DP=157;ExcessHet=3.0103;FS=4.895;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.975;SOR=0.416;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2236783;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|LCT|LCT|transcript|NM_002299.3|protein_coding|1/17|c.582C>T|p.Thr194Thr|593/6279|582/5784|194/1927||,A|downstream_gene_variant|MODIFIER|MCM6|MCM6|transcript|NM_005915.5|protein_coding||c.*4247C>T|||||3038|;p3_1000G_AA=g|||;p3_1000G_AC=1745;p3_1000G_AF=0.348442;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19559;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.5964;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136594158;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP;ESP6500_AA_AC=1049,3357;ESP6500_AA_GTC=122,805,1276;ESP6500_CDS_SIZES=NM_002299.2:5784;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=123;ESP6500_EA_AC=6004,2596;ESP6500_EA_GTC=2182,1640,478;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002299.2:coding-synonymous;ESP6500_GL=LCT;ESP6500_GRCh38_POSITION=2:135836588;ESP6500_GTC=2304,2445,1754;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002299.2:c.582C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002299.2:p.(T194);ESP6500_MAF=30.186,23.8084,45.7712;ESP6500_TAC=7053,5953;CLINVAR_AF_TGP=0.3484;CLINVAR_ALLELEID=281889;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004789,MedGen:C0022951|MedGen:C0268179,OMIM:223000,Orphanet:ORPHA53690,SNOMED_CT:5388008;CLINVAR_CLNDN=Lactose_intolerance|Congenital_lactase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.135836588G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25884;CLINVAR_GENEINFO=LCT:3938;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2236783	GT:AD:DP:GQ:PL	0/1:88,69:157:99:1760,0,2427
chr2	135840746	rs3087350	C	T	505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.591;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.73;ReadPosRankSum=-2.036;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087350;dbSNPBuildID=102;ANN=T|3_prime_UTR_variant|MODIFIER|MCM6|MCM6|transcript|NM_005915.5|protein_coding|17/17|c.*89G>A|||||89|,T|upstream_gene_variant|MODIFIER|LCT|LCT|transcript|NM_002299.3|protein_coding||c.-3577G>A|||||3566|;p3_1000G_AA=C|||;p3_1000G_AC=156;p3_1000G_AF=0.0311502;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=20221;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.0298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136598316;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,17:27:99:0|1:135840746_C_T:534,0,272
chr2	135856685	rs309180	G	A	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.072;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.15;ReadPosRankSum=1.12;SOR=1.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs309180;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|MCM6|MCM6|transcript|NM_005915.5|protein_coding|11/16|c.1626+43C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1684;p3_1000G_AF=0.336262;p3_1000G_AFR_AF=0.121;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=17783;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136614255;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1029,3377;ESP6500_AA_GTC=117,795,1291;ESP6500_CDS_SIZES=NM_005915.5:2466;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=55;ESP6500_EA_AC=5911,2689;ESP6500_EA_GTC=2118,1675,507;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005915.5:intron;ESP6500_GL=MCM6;ESP6500_GRCh38_POSITION=2:135856685;ESP6500_GTC=2235,2470,1798;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005915.5:c.1626+43C>T;ESP6500_MAF=31.2674,23.3545,46.64;ESP6500_TAC=6940,6066	GT:AD:DP:GQ:PL	0/1:20,5:25:82:82,0,527
chr2	135865255	rs309177	A	G	229.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs309177;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|MCM6|MCM6|transcript|NM_005915.5|protein_coding|6/16|c.928-92T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19222;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136622825;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:258,21,0
chr2	135866812	rs4988173	C	T	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4988173;dbSNPBuildID=113;ANN=T|intron_variant|MODIFIER|MCM6|MCM6|transcript|NM_005915.5|protein_coding|4/16|c.616-84G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=328;p3_1000G_AF=0.0654952;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=19518;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136624382;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:67:67,0,67
chr2	135876201	rs191079	T	C	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=-0.842;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs191079;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|MCM6|MCM6|transcript|NM_005915.5|protein_coding|1/16|c.107+58A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3382;p3_1000G_AF=0.675319;p3_1000G_AFR_AF=0.9175;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=10399;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136633771;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:101,0,148
chr2	135916422	.	C	A	10.2	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.629;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.104;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=0.988;SOR=0.132;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001349.3|protein_coding|10/15|c.960-50G>T||||||,A|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001293312.1|protein_coding|9/14|c.660-50G>T||||||	GT:AD:DP:GQ:PL	0/1:13,3:16:38:38,0,435
chr2	135916458	rs309172	A	G	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=1.04;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs309172;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001349.3|protein_coding|10/15|c.960-86T>C||||||,G|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001293312.1|protein_coding|9/14|c.660-86T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1341;p3_1000G_AF=0.267772;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=17169;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.2207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136674028;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:82:228,0,82
chr2	135924462	.	C	T	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.589;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.86;ReadPosRankSum=-0.14;SOR=0.446;SNP;HET;VARTYPE=SNP;ANN=T|missense_variant|MODERATE|DARS|DARS|transcript|NM_001349.3|protein_coding|8/16|c.601G>A|p.Gly201Ser|817/3157|601/1506|201/501||,T|missense_variant|MODERATE|DARS|DARS|transcript|NM_001293312.1|protein_coding|7/15|c.301G>A|p.Gly101Ser|759/3099|301/1206|101/401||	GT:AD:DP:GQ:PL	0/1:5,4:9:72:72,0,115
chr2	135932844	rs34744196;rs397872816;516398	TA	T	462.74	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.998;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=25.57;ReadPosRankSum=-0.402;SOR=1.473;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34744196;dbSNPBuildID=137,138;ANN=T|splice_region_variant&intron_variant|LOW|DARS|DARS|transcript|NM_001349.3|protein_coding|6/15|c.505-3delT||||||,T|splice_region_variant&intron_variant|LOW|DARS|DARS|transcript|NM_001293312.1|protein_coding|5/14|c.205-3delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3311;p3_1000G_AF=0.661142;p3_1000G_AFR_AF=0.8411;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=16104;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136690414;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=498869;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.135932845delA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=DARS:1615;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34744196	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,12:13:27:1|1:135932844_TA_T:500,27,0
chr2	135932855	rs371309040;383416	A	G	471.78	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.549;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.07;ReadPosRankSum=-0.268;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs371309040;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001349.3|protein_coding|6/15|c.505-13T>C||||||,G|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001293312.1|protein_coding|5/14|c.205-13T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1118;p3_1000G_AF=0.223243;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=15984;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136690425;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP;CLINVAR_ALLELEID=365548;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.135932855A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DARS:1615;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=371309040	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,12:13:27:1|1:135932844_TA_T:500,27,0
chr2	135961603	rs6430594	A	G	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-1.085;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6430594;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001349.3|protein_coding|3/15|c.218-105T>C||||||,G|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001293312.1|protein_coding|2/14|c.-83-105T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1055;p3_1000G_AF=0.210663;p3_1000G_AFR_AF=0.1498;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=19728;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.2217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136719173;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:185,0,120
chr2	135983330	rs687670	T	C	886.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.71;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs687670;dbSNPBuildID=83;ANN=C|upstream_gene_variant|MODIFIER|DARS-AS1|DARS-AS1|transcript|NR_110199.1|pseudogene||n.-1846T>C|||||1846|,C|upstream_gene_variant|MODIFIER|DARS-AS1|DARS-AS1|transcript|NR_110200.1|pseudogene||n.-1846T>C|||||1846|,C|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001349.3|protein_coding|2/15|c.124+67A>G||||||,C|intron_variant|MODIFIER|DARS|DARS|transcript|NM_001293312.1|protein_coding|1/14|c.-177+2073A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3390;p3_1000G_AF=0.676917;p3_1000G_AFR_AF=0.9183;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=6027;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136740900;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1100,284;ESP6500_AA_GTC=437,226,29;ESP6500_CDS_SIZES=NM_001349.2:1506;ESP6500_CG=1.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=68;ESP6500_EA_AC=1017,2151;ESP6500_EA_GTC=197,623,764;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001349.2:intron;ESP6500_GL=DARS;ESP6500_GRCh38_POSITION=2:135983330;ESP6500_GTC=634,849,793;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001349.2:c.124+67A>G;ESP6500_MAF=32.1023,20.5202,46.507;ESP6500_TAC=2117,2435	GT:AD:DP:GQ:PL	1/1:0,32:32:95:915,95,0
chr2	135985573	rs2278682	G	C	363.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.902;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.143;SOR=1.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278682;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|DARS|DARS|transcript|NM_001349.3|protein_coding|1/16|c.-105C>G|||||105|,C|5_prime_UTR_variant|MODIFIER|DARS|DARS|transcript|NM_001293312.1|protein_coding|1/15|c.-347C>G|||||24158|,C|intron_variant|MODIFIER|DARS-AS1|DARS-AS1|transcript|NR_110199.1|pseudogene|1/3|n.341+57G>C||||||,C|intron_variant|MODIFIER|DARS-AS1|DARS-AS1|transcript|NR_110200.1|pseudogene|1/3|n.341+57G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1514;p3_1000G_AF=0.302316;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=14844;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136743143;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,14:34:99:392,0,512
chr2	135985602	rs6738266	C	T	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.836;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.246;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.289;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6738266;dbSNPBuildID=116;ANN=T|5_prime_UTR_variant|MODIFIER|DARS|DARS|transcript|NM_001349.3|protein_coding|1/16|c.-134G>A|||||134|,T|5_prime_UTR_variant|MODIFIER|DARS|DARS|transcript|NM_001293312.1|protein_coding|1/15|c.-376G>A|||||24187|,T|intron_variant|MODIFIER|DARS-AS1|DARS-AS1|transcript|NR_110199.1|pseudogene|1/3|n.341+86C>T||||||,T|intron_variant|MODIFIER|DARS-AS1|DARS-AS1|transcript|NR_110200.1|pseudogene|1/3|n.341+86C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=157;p3_1000G_AF=0.0313498;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=14743;p3_1000G_EAS_AF=0.0536;p3_1000G_EUR_AF=0.0308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136743172;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,13:24:99:323,0,306
chr2	136202913	rs11688302	C	T	109.85	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=1.38;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11688302;dbSNPBuildID=120;ANN=T|intergenic_region|MODIFIER|CXCR4-THSD7B|CXCR4-THSD7B|intergenic_region|CXCR4-THSD7B|||n.136202913C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2328;p3_1000G_AF=0.464856;p3_1000G_AFR_AF=0.354;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=21820;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=136960483;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,5:6:17:138,0,17
chr2	136882046	rs1465612	C	T	231.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1465612;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|1/27|c.-35-98C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4951;p3_1000G_AF=0.988618;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19440;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=137639616;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:260,21,0
chr2	137160352	rs4954474	T	A	1121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.322;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0.893;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.996;SOR=0.887;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4954474;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|6/28|c.1509T>A|p.Asp503Glu|1670/6089|1509/4821|503/1606||;p3_1000G_AA=T|||;p3_1000G_AC=1413;p3_1000G_AF=0.282149;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=20794;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.4861;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=137917922;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=828,3282;ESP6500_AA_GTC=98,632,1325;ESP6500_CDS_SIZES=NM_001080427.1:4734;ESP6500_CG=2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=116;ESP6500_EA_AC=4037,4371;ESP6500_EA_GTC=975,2087,1142;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080427.1:missense;ESP6500_GL=THSD7B;ESP6500_GRCh38_POSITION=2:137160352;ESP6500_GS=45;ESP6500_GTC=1073,2719,2467;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080427.1:c.1416T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080427.1:p.(D472E);ESP6500_MAF=48.0138,20.146,38.864;ESP6500_PH=benign:0.003;ESP6500_TAC=4865,7653	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1150,0,931
chr2	137242409	rs10490735	G	C	1046.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.232;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=0.371;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10490735;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|9/27|c.2151-48G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1367;p3_1000G_AF=0.272963;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=19127;p3_1000G_EAS_AF=0.4663;p3_1000G_EUR_AF=0.3121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=137999979;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=718,3062;ESP6500_AA_GTC=99,520,1271;ESP6500_CDS_SIZES=NM_001080427.1:4734;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=68;ESP6500_EA_AC=2189,6035;ESP6500_EA_GTC=291,1607,2214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080427.1:intron;ESP6500_GL=THSD7B;ESP6500_GRCh38_POSITION=2:137242409;ESP6500_GTC=390,2127,3485;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080427.1:c.2058-48G>C;ESP6500_MAF=26.6172,18.9947,24.2169;ESP6500_TAC=2907,9097	GT:AD:DP:GQ:PL	0/1:21,40:61:99:1075,0,527
chr2	137242656	rs7605259	T	C	845.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=4.255;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7605259;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|10/27|c.2266+84T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4721;p3_1000G_AF=0.942692;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=18301;p3_1000G_EAS_AF=0.9147;p3_1000G_EUR_AF=0.9722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138000226;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:137242656_T_C:874,78,0
chr2	137272664	rs12622896	C	T	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.145;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=1.34;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12622896;dbSNPBuildID=120;ANN=T|splice_donor_variant&intron_variant|HIGH|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|11/27|c.2396+2C>T||||||;LOF=(THSD7B|THSD7B|1|1.00);p3_1000G_AA=T|||;p3_1000G_AC=245;p3_1000G_AF=0.0489217;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=17286;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138030234;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=198,3588;ESP6500_AA_GTC=5,188,1700;ESP6500_CDS_SIZES=NM_001080427.1:4734;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=146;ESP6500_EA_AC=72,8164;ESP6500_EA_GTC=1,70,4047;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080427.1:splice-5;ESP6500_GL=THSD7B;ESP6500_GRCh38_POSITION=2:137272664;ESP6500_GTC=6,258,5747;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080427.1:c.2303+2C>T;ESP6500_MAF=0.8742,5.2298,2.2459;ESP6500_TAC=270,11752	GT:AD:DP:GQ:PL	0/1:12,24:36:99:557,0,300
chr2	137272701	rs10182152	G	A	668.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10182152;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|11/27|c.2396+39G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3591;p3_1000G_AF=0.717053;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=18387;p3_1000G_EAS_AF=0.9583;p3_1000G_EUR_AF=0.5666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138030271;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7178;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2424,1266;ESP6500_AA_GTC=793,838,214;ESP6500_CDS_SIZES=NM_001080427.1:4734;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=79;ESP6500_EA_AC=4465,3719;ESP6500_EA_GTC=1262,1941,889;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080427.1:intron;ESP6500_GL=THSD7B;ESP6500_GRCh38_POSITION=2:137272701;ESP6500_GTC=2055,2779,1103;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080427.1:c.2303+39G>A;ESP6500_MAF=45.4423,34.3089,41.9825;ESP6500_TAC=6889,4985	GT:AD:DP:GQ:PL	1/1:0,22:22:66:697,66,0
chr2	137405817	rs774170871	G	A	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.434;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-1.158;SOR=0.175;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|13/27|c.2695+10G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,9:17:99:0|1:137405817_G_A:228,0,239
chr2	137405821	rs1551281	T	C	675.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1551281;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|13/27|c.2695+14T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4406;p3_1000G_AF=0.879792;p3_1000G_AFR_AF=0.6505;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=19669;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.9513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138163391;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2812,1122;ESP6500_AA_GTC=1005,802,160;ESP6500_CDS_SIZES=NM_001080427.1:4734;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=57;ESP6500_EA_AC=7903,425;ESP6500_EA_GTC=3756,391,17;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080427.1:intron;ESP6500_GL=THSD7B;ESP6500_GRCh38_POSITION=2:137405821;ESP6500_GTC=4761,1193,177;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080427.1:c.2602+14T>C;ESP6500_MAF=5.1033,28.5206,12.6162;ESP6500_TAC=10715,1547	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:137405817_G_A:704,51,0
chr2	137411588	rs1463285	T	C	667.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1463285;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|13/27|c.2696-21T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4907;p3_1000G_AF=0.979832;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=18808;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138169158;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3506,162;ESP6500_AA_GTC=1680,146,8;ESP6500_CDS_SIZES=NM_001080427.1:4734;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=87;ESP6500_EA_AC=8168,0;ESP6500_EA_GTC=4084,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080427.1:intron;ESP6500_GL=THSD7B;ESP6500_GRCh38_POSITION=2:137411588;ESP6500_GTC=5764,146,8;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080427.1:c.2603-21T>C;ESP6500_MAF=0.0,4.4166,1.3687;ESP6500_TAC=11674,162	GT:AD:DP:GQ:PL	1/1:0,18:18:54:696,54,0
chr2	137618326	rs7574994	G	A	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.464;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=-1.895;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7574994;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|18/27|c.3566-66G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1002;p3_1000G_AF=0.20008;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=20820;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138375896;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,10:29:99:243,0,579
chr2	137618640	rs16839162	G	A	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.668;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.169;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16839162;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|19/27|c.3681+133G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=98;p3_1000G_AF=0.0195687;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=19034;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138376210;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0235;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:313,0,266
chr2	137620781	rs58339575	AG	A	326.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.79;SOR=3.056;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58339575;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|20/27|c.3799+56delG||||||;p3_1000G_AA=G|G|-|deletion;p3_1000G_AC=1567;p3_1000G_AF=0.312899;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=19107;p3_1000G_EAS_AF=0.0744;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138378351;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:27:364,27,0
chr2	137620818	rs1448922	A	G	141.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1448922;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|20/27|c.3799+92A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1414;p3_1000G_AF=0.282348;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=19465;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.2793;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138378388;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:169,12,0
chr2	137655415	rs10496784	G	T	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.908;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.975;SOR=0.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10496784;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|21/27|c.3946-86G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=350;p3_1000G_AF=0.0698882;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=20025;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0.1143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138412985;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:323,0,284
chr2	137655448	rs62168467	C	T	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.143;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.666;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.43;SOR=1.214;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62168467;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|21/27|c.3946-53C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=353;p3_1000G_AF=0.0704872;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=19777;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138413018;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,18:34:99:470,0,429
chr2	137663426	rs10206850	A	G	546.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.326;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.045;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10206850;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|THSD7B|THSD7B|transcript|NM_001316349.1|protein_coding|26/28|c.4502A>G|p.Lys1501Arg|4663/6089|4502/4821|1501/1606||;p3_1000G_AA=G|||;p3_1000G_AC=2941;p3_1000G_AF=0.58726;p3_1000G_AFR_AF=0.6558;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=17399;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.5606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138420996;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2384,1364;ESP6500_AA_GTC=750,884,240;ESP6500_CDS_SIZES=NM_001080427.1:4734;ESP6500_CG=6.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=94;ESP6500_EA_AC=4828,3386;ESP6500_EA_GTC=1437,1954,716;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080427.1:missense;ESP6500_GL=THSD7B;ESP6500_GRCh38_POSITION=2:137663426;ESP6500_GS=26;ESP6500_GTC=2187,2838,956;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080427.1:c.4415A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001080427.1:p.(K1472R);ESP6500_MAF=41.2223,36.3927,39.7091;ESP6500_PH=benign:0.0;ESP6500_TAC=7212,4750	GT:AD:DP:GQ:PL	0/1:23,22:45:99:575,0,617
chr2	137964372	rs397985992;rs67985366;rs748165805	ATT	A	334.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.11;SOR=2.985;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67985366;dbSNPBuildID=138,144,138;ANN=A|5_prime_UTR_variant|MODIFIER|HNMT|HNMT|transcript|NM_006895.2|protein_coding|1/6|c.-104_-103delTT|||||103|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|HNMT|HNMT|transcript|NM_001024074.2|protein_coding|1/2|c.-104_-103delTT|||||103|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|HNMT|HNMT|transcript|NM_001024075.1|protein_coding|1/3|c.-104_-103delTT|||||103|INFO_REALIGN_3_PRIME;p3_1000G_AC=2787;p3_1000G_AF=0.55651;p3_1000G_AFR_AF=0.6702;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=16814;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.5467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138721942;p3_1000G_GRCH37_REF=ATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:33:334,33,0
chr2	137970037	rs3100702	G	A	135.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3100702;dbSNPBuildID=103;ANN=A|downstream_gene_variant|MODIFIER|HNMT|HNMT|transcript|NM_001024074.2|protein_coding||c.*2922G>A|||||2593|,A|intron_variant|MODIFIER|HNMT|HNMT|transcript|NM_006895.2|protein_coding|1/5|c.138-128G>A||||||,A|intron_variant|MODIFIER|HNMT|HNMT|transcript|NM_001024075.1|protein_coding|1/2|c.138-128G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1929;p3_1000G_AF=0.385184;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=18079;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.4503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138727607;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:164,15,0
chr2	138005303	rs3842548;rs386391313;rs397694154	C	CTT	141.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.94;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.986;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3842548;dbSNPBuildID=107,138,138;ANN=CTT|intron_variant|MODIFIER|HNMT|HNMT|transcript|NM_006895.2|protein_coding|5/5|c.523+79_523+80dupTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1077;p3_1000G_AF=0.215056;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=20306;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.2137;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138762873;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,5:15:99:179,0,411
chr2	138014190	rs1050891	A	G	23.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.414;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-1.611;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1050891;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|HNMT|HNMT|transcript|NM_006895.2|protein_coding|6/6|c.*60A>G|||||60|;p3_1000G_AA=A|||;p3_1000G_AC=1229;p3_1000G_AF=0.245407;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=17706;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.2147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=138771760;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:52:52,0,139
chr2	138550827	rs149244535;rs66690846;rs796385577	TTC	T	218.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.25;SOR=1.863;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66690846,rs149244535;dbSNPBuildID=146,134,137;ANN=T|intron_variant|MODIFIER|SPOPL|SPOPL|transcript|NM_001001664.2|protein_coding|3/10|c.201-55_201-54delTC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,7:7:14:235,14,0
chr2	138671498	rs10803570	G	A	2003.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=0.787;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10803570;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|NXPH2|NXPH2|transcript|NM_007226.2|protein_coding|2/2|c.219C>T|p.Tyr73Tyr|219/2560|219/795|73/264||;p3_1000G_AA=A|||;p3_1000G_AC=3298;p3_1000G_AF=0.658546;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=17883;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.7177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=139429068;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3288,530;ESP6500_AA_GTC=1412,464,33;ESP6500_CDS_SIZES=NM_007226.2:795;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=106;ESP6500_EA_AC=5786,2460;ESP6500_EA_GTC=2015,1756,352;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007226.2:coding-synonymous;ESP6500_GL=NXPH2;ESP6500_GRCh38_POSITION=2:138671498;ESP6500_GTC=3427,2220,385;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007226.2:c.219C>T;ESP6500_HGVS_PROTEIN_VAR=NM_007226.2:p.(Y73);ESP6500_MAF=29.8326,13.8816,24.7845;ESP6500_TAC=9074,2990	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2032,195,0
chr2	140234768	rs13387241	C	A	748.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13387241;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|90/90|c.13659+18G>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2341;p3_1000G_AF=0.467452;p3_1000G_AFR_AF=0.3245;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=14505;p3_1000G_EAS_AF=0.5069;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=140992337;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1793,2613;ESP6500_AA_AGE=527.0+/-372.0;ESP6500_AA_GTC=368,1057,778;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=2.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=81;ESP6500_EA_AC=5103,3495;ESP6500_EA_AGE=631.3+/-398.5;ESP6500_EA_GTC=1517,2069,713;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140234768;ESP6500_GTC=1885,3126,1491;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.13659+18G>T;ESP6500_MAF=40.649,40.6945,46.9702;ESP6500_TAC=6896,6108	GT:AD:DP:GQ:PL	1/1:0,26:26:78:777,78,0
chr2	140239628	rs3748864	T	G	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.06;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748864;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|87/90|c.13325-96A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=757;p3_1000G_AF=0.151158;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=17883;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=140997197;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:124,0,151
chr2	140246944	rs11895946	C	T	411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11895946;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|87/90|c.13324+142G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2273;p3_1000G_AF=0.453874;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=17477;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141004513;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:440,39,0
chr2	140246960	rs2129483	A	G	509.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2129483;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|87/90|c.13324+126T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4457;p3_1000G_AF=0.889976;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=17977;p3_1000G_EAS_AF=0.9673;p3_1000G_EUR_AF=0.9483;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141004529;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:538,45,0
chr2	140274519	rs1386356	C	T	1336.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.85;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1386356;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|85/91|c.13047G>A|p.Thr4349Thr|14019/16531|13047/13800|4349/4599||;p3_1000G_AA=T|||;p3_1000G_AC=2435;p3_1000G_AF=0.486222;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=15952;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.665;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141032088;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1129,3277;ESP6500_AA_AGE=716.0+/-408.5;ESP6500_AA_GTC=140,849,1214;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=155;ESP6500_EA_AC=5790,2810;ESP6500_EA_AGE=443.8+/-360.5;ESP6500_EA_GTC=1954,1882,464;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:coding-synonymous;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140274519;ESP6500_GTC=2094,2731,1678;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.13047G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018557.2:p.(T4349);ESP6500_MAF=32.6744,25.6241,46.8015;ESP6500_TAC=6919,6087	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1365,144,0
chr2	140503099	rs4444457	A	G	1613.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=1.298;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4444457;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|54/91|c.8526T>C|p.Tyr2842Tyr|9498/16531|8526/13800|2842/4599||;p3_1000G_AA=G|||;p3_1000G_AC=2720;p3_1000G_AF=0.543131;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=17484;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.5388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141260668;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2201,2205;ESP6500_AA_AGE=587.3+/-386.7;ESP6500_AA_GTC=557,1087,559;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=113;ESP6500_EA_AC=4728,3872;ESP6500_EA_AGE=543.0+/-384.3;ESP6500_EA_GTC=1306,2116,878;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:coding-synonymous;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140503099;ESP6500_GTC=1863,3203,1437;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.8526T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018557.2:p.(Y2842);ESP6500_MAF=45.0233,49.9546,46.7246;ESP6500_TAC=6929,6077	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1642,144,0
chr2	140507011	rs201970031	AAT	A	34.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=1.5;SOR=0.307;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201970031;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|52/90|c.8399-95_8399-94delAT||||||;p3_1000G_AC=144;p3_1000G_AF=0.028754;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=18532;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141264580;p3_1000G_GRCH37_REF=AAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:72:0|1:140507011_AAT_A:72,0,401
chr2	140507016	rs199990645	TTCA	T	34.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.79;SOR=0.307;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs199990645;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|52/90|c.8399-101_8399-99delTGA||||||;p3_1000G_AC=144;p3_1000G_AF=0.028754;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=18609;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141264585;p3_1000G_GRCH37_REF=TTCA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:72:0|1:140507011_AAT_A:72,0,401
chr2	140526034	rs1352047	T	G	1823.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=34.41;ReadPosRankSum=-0.52;SOR=0.544;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1352047;dbSNPBuildID=88;ANN=G|sequence_feature|MODERATE|LRP1B|LRP1B|glycosylation-site:N-linked_(GlcNAc...)|NM_018557.2|protein_coding|48/90|c.7877-41A>C||||||,G|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|48/90|c.7877-41A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4919;p3_1000G_AF=0.982228;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19499;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141283603;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4174,232;ESP6500_AA_AGE=134.5+/-170.7;ESP6500_AA_GTC=1975,224,4;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=2.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=44;ESP6500_EA_AC=8595,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4296,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140526034;ESP6500_GTC=6271,227,4;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.7877-41A>C;ESP6500_MAF=0.0349,5.2655,1.8071;ESP6500_TAC=12769,235	GT:AD:DP:GQ:PL	1/1:1,52:53:99:1852,149,0
chr2	140536716	rs748331070	G	GA	19.78	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.176;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=8.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=-1.4;SOR=0.027;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=GA|splice_region_variant&intron_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|45/90|c.7514-8dupT||||||	GT:AD:DP:GQ:PL	0/1:12,4:16:57:57,0,250
chr2	140540898	rs6729619	A	C	568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.6;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6729619;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|45/90|c.7513+75T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.3525;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=20954;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141298467;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:597,54,0
chr2	140541105	rs13013854	T	C	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.666;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13013854;dbSNPBuildID=121;ANN=C|splice_region_variant&intron_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|44/90|c.7388-7A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1650;p3_1000G_AF=0.329473;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=19683;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.4036;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141298674;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=862,3544;ESP6500_AA_AGE=336.8+/-304.5;ESP6500_AA_GTC=104,654,1445;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=87;ESP6500_EA_AC=3677,4923;ESP6500_EA_AGE=526.7+/-381.0;ESP6500_EA_GTC=811,2055,1434;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140541105;ESP6500_GTC=915,2709,2879;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.7388-7A>G;ESP6500_MAF=42.7558,19.5642,34.8993;ESP6500_TAC=4539,8467	GT:AD:DP:GQ:PL	0/1:12,8:20:99:247,0,306
chr2	140541113	rs11694934	G	C	682.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11694934;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|44/90|c.7388-15C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2528;p3_1000G_AF=0.504792;p3_1000G_AFR_AF=0.3918;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=19434;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141298682;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2001,2405;ESP6500_AA_AGE=605.2+/-390.5;ESP6500_AA_GTC=477,1047,679;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=81;ESP6500_EA_AC=4440,4160;ESP6500_EA_AGE=556.1+/-386.8;ESP6500_EA_GTC=1167,2106,1027;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140541113;ESP6500_GTC=1644,3153,1706;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.7388-15C>G;ESP6500_MAF=48.3721,45.4153,49.5233;ESP6500_TAC=6441,6565	GT:AD:DP:GQ:PL	1/1:0,18:18:54:711,54,0
chr2	140541180	rs11694970	G	C	147.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.25;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11694970;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|44/90|c.7388-82C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2321;p3_1000G_AF=0.463458;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=19916;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141298749;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:175,12,0
chr2	140541748	rs9287535	A	G	512.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9287535;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|44/90|c.7387+31T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2596;p3_1000G_AF=0.518371;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=15430;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141299317;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2050,2356;ESP6500_AA_GTC=510,1030,663;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=81;ESP6500_EA_AC=4406,4190;ESP6500_EA_GTC=1168,2070,1060;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140541748;ESP6500_GTC=1678,3100,1723;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.7387+31T>C;ESP6500_MAF=48.7436,46.5275,49.6539;ESP6500_TAC=6456,6546	GT:AD:DP:GQ:PL	1/1:0,17:17:51:541,51,0
chr2	140715936	rs4954852	A	T	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.97;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=6.768;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.4;SOR=2.448;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4954852;dbSNPBuildID=111;ANN=T|sequence_feature|LOW|LRP1B|LRP1B|repeat:LDL-receptor_class_B_19|NM_018557.2|protein_coding|37/90|c.6023+37T>A||||||,T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|37/90|c.6023+37T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2102;p3_1000G_AF=0.419728;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=16276;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.5805;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141473505;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1728,2678;ESP6500_AA_AGE=634.6+/-396.2;ESP6500_AA_GTC=344,1040,819;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=54;ESP6500_EA_AC=4979,3617;ESP6500_EA_AGE=516.4+/-378.8;ESP6500_EA_GTC=1433,2113,752;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140715936;ESP6500_GTC=1777,3153,1571;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.6023+37T>A;ESP6500_MAF=42.0777,39.2192,48.4156;ESP6500_TAC=6707,6295	GT:AD:DP:GQ:PL	0/1:22,13:35:99:377,0,549
chr2	140716217	rs17513410	C	T	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.424;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=0.349;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17513410;dbSNPBuildID=123;ANN=T|sequence_feature|LOW|LRP1B|LRP1B|repeat:LDL-receptor_class_B_28|NM_018557.2|protein_coding|36/90|c.5894-115G>A||||||,T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|36/90|c.5894-115G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1990;p3_1000G_AF=0.397364;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=18114;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141473786;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:248,0,127
chr2	140716833	rs398104769;rs562408545;rs5834770;~rs34485899	G	GA	65.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.141;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.257;SOR=0.631;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5834770;dbSNPBuildID=142,135,138;ANN=GA|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|35/90|c.5759-18dupT||||||;p3_1000G_AA=?|AAAAAAAA|AAAAAAAAA|unsure;p3_1000G_AC=2316;p3_1000G_AF=0.46246;p3_1000G_AFR_AF=0.354;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=14949;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.6521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141474402;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=INDEL;ESP6500_AA_AC=1722,2544;ESP6500_AA_GTC=347,1028,758;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=66;ESP6500_EA_AC=5327,2925;ESP6500_EA_GTC=1723,1881,522;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140716833;ESP6500_GTC=2070,2909,1280;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.5759-18_5759-17insT;ESP6500_MAF=35.446,40.3657,43.6891;ESP6500_TAC=7049,5469	GT:AD:DP:GQ:PL	0/1:9,5:14:99:103,0,228
chr2	140716887	rs1372255	C	T	60.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=0.842;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1372255;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|35/90|c.5759-71G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1996;p3_1000G_AF=0.398562;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=15410;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141474456;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:89:89,0,142
chr2	140771023	rs7599219	T	C	711.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7599219;dbSNPBuildID=116;ANN=C|sequence_feature|LOW|LRP1B|LRP1B|domain:EGF-like_8|NM_018557.2|protein_coding|33/90|c.5501-17A>G||||||,C|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|33/90|c.5501-17A>G||||||;ESP6500_AA=T;ESP6500_AA_AC=3411,995;ESP6500_AA_AGE=727.8+/-409.9;ESP6500_AA_GTC=1311,789,103;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=66;ESP6500_EA_AC=7493,1107;ESP6500_EA_AGE=765.5+/-407.6;ESP6500_EA_GTC=3279,935,86;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140771023;ESP6500_GTC=4590,1724,189;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.5501-17A>G;ESP6500_MAF=12.8721,22.5828,16.1618;ESP6500_TAC=10904,2102	GT:AD:DP:GQ:PL	1/1:0,24:24:72:740,72,0
chr2	140776093	rs996361	T	C	739.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs996361;dbSNPBuildID=86;ANN=C|splice_region_variant&intron_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|33/90|c.5500+5A>G||||||,C|sequence_feature|LOW|LRP1B|LRP1B|domain:EGF-like_8|NM_018557.2|protein_coding|33/90|c.5500+5A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4283;p3_1000G_AF=0.855232;p3_1000G_AFR_AF=0.7458;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=13874;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8658;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141533662;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3409,997;ESP6500_AA_AGE=373.2+/-320.7;ESP6500_AA_GTC=1309,791,103;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=4.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=123;ESP6500_EA_AC=7495,1105;ESP6500_EA_AGE=230.1+/-264.6;ESP6500_EA_GTC=3280,935,85;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140776093;ESP6500_GTC=4589,1726,188;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.5500+5A>G;ESP6500_MAF=12.8488,22.6282,16.1618;ESP6500_TAC=10904,2102	GT:AD:DP:GQ:PL	1/1:0,24:24:72:768,72,0
chr2	140813760	rs3749010	T	C	1639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3749010;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|32/91|c.5256A>G|p.Ser1752Ser|6228/16531|5256/13800|1752/4599||;p3_1000G_AA=C|||;p3_1000G_AC=4233;p3_1000G_AF=0.845248;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=17942;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.8748;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141571329;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9213;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3251,1155;ESP6500_AA_AGE=409.7+/-335.1;ESP6500_AA_GTC=1199,853,151;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-11.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=140;ESP6500_EA_AC=7635,965;ESP6500_EA_AGE=210.4+/-251.3;ESP6500_EA_GTC=3404,827,69;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:coding-synonymous;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140813760;ESP6500_GTC=4603,1680,220;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.5256A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018557.2:p.(S1752);ESP6500_MAF=11.2209,26.2143,16.3002;ESP6500_TAC=10886,2120	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1668,165,0
chr2	140813871	rs17575847	C	G	735.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17575847;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|31/90|c.5210-65G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=2162;p3_1000G_AF=0.431709;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=17936;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.5497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141571440;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:764,57,0
chr2	140813887	rs397970346;rs528793300;rs60071104	G	GA	267.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.77;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs60071104;dbSNPBuildID=138,142,138;ANN=GA|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|31/90|c.5210-82dupT||||||	GT:AD:DP:GQ:PL	1/1:0,10:10:30:305,30,0
chr2	140840904	rs35745624;rs78477398;~rs61163231	A	AT	583.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=1.911;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35745624;dbSNPBuildID=126;ANN=AT|sequence_feature|LOW|LRP1B|LRP1B|repeat:LDL-receptor_class_B_15|NM_018557.2|protein_coding|30/90|c.5114+13_5114+14insA||||||,AT|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|30/90|c.5114+13_5114+14insA||||||;p3_1000G_AC=4896;p3_1000G_AF=0.977636;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=14946;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141598473;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=3996,1,269;ESP6500_AA_GTC=1872,1,251,0,0,9;ESP6500_CDS_SIZES=NM_018557.2:13800,NM_018557.2:13800;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=45;ESP6500_EA_AC=8250,0,4;ESP6500_EA_GTC=4124,0,2,0,0,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron,NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140840904;ESP6500_GTC=5996,1,253,0,0,10;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.5114+13_5114+14insT,NM_018557.2:c.5114+13_5114+14insA;ESP6500_MAF=0.0485,6.3291,2.1885;ESP6500_TAC=12246,1,273	GT:AD:DP:GQ:PL	1/1:0,15:15:48:621,48,0
chr2	140884148	rs16844912	C	T	532.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.571;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.219;SOR=0.638;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16844912;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|24/90|c.3965-127G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=337;p3_1000G_AF=0.0672923;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=19638;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141641717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,21:35:99:561,0,389
chr2	140950299	rs6748626	G	T	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.128;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.333;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6748626;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|20/91|c.3072C>A|p.Ala1024Ala|4044/16531|3072/13800|1024/4599||;p3_1000G_AA=G|||;p3_1000G_AC=1381;p3_1000G_AF=0.275759;p3_1000G_AFR_AF=0.4735;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=16069;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141707868;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1721,2685;ESP6500_AA_AGE=517.2+/-369.4;ESP6500_AA_GTC=334,1053,816;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=73;ESP6500_EA_AC=1182,7418;ESP6500_EA_AGE=241.0+/-271.5;ESP6500_EA_GTC=85,1012,3203;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018557.2:coding-synonymous;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140950299;ESP6500_GTC=419,2065,4019;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.3072C>A;ESP6500_HGVS_PROTEIN_VAR=NM_018557.2:p.(A1024);ESP6500_MAF=13.7442,39.0604,22.3205;ESP6500_TAC=2903,10103	GT:AD:DP:GQ:PL	0/1:15,13:28:99:304,0,443
chr2	140950452	rs6706503	T	A	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.405;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.399;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6706503;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|19/90|c.2969-50A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1381;p3_1000G_AF=0.275759;p3_1000G_AFR_AF=0.4735;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=17144;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.1402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141708021;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1673,2733;ESP6500_AA_GTC=333,1007,863;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=26;ESP6500_EA_AC=1130,7470;ESP6500_EA_GTC=85,960,3255;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140950452;ESP6500_GTC=418,1967,4118;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.2969-50A>T;ESP6500_MAF=13.1395,37.9709,21.5516;ESP6500_TAC=2803,10203	GT:AD:DP:GQ:PL	0/1:9,8:17:99:199,0,233
chr2	140951837	rs1991540	T	G	512.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.65;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.311;SOR=1.091;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1991540;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|19/90|c.2968+23A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=788;p3_1000G_AF=0.157348;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=18185;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.0616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141709406;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=656,3750;ESP6500_AA_AGE=279.3+/-274.7;ESP6500_AA_GTC=57,542,1604;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=108;ESP6500_EA_AC=474,8126;ESP6500_EA_AGE=139.5+/-196.2;ESP6500_EA_GTC=17,440,3843;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140951837;ESP6500_GTC=74,982,5447;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.2968+23A>C;ESP6500_MAF=5.5116,14.8888,8.6883;ESP6500_TAC=1130,11876	GT:AD:DP:GQ:PL	0/1:23,19:42:99:541,0,546
chr2	140989680	rs1429365	A	T	1179.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1429365;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|16/90|c.2645-23T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2641;p3_1000G_AF=0.527356;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=15731;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.4105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141747249;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2438,1968;ESP6500_AA_AGE=552.9+/-378.6;ESP6500_AA_GTC=665,1108,430;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=61;ESP6500_EA_AC=3038,5562;ESP6500_EA_AGE=660.2+/-401.7;ESP6500_EA_GTC=535,1968,1797;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140989680;ESP6500_GTC=1200,3076,2227;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.2645-23T>A;ESP6500_MAF=35.3256,44.6664,42.1036;ESP6500_TAC=5476,7530	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1208,114,0
chr2	140989724	rs1429366	T	C	541.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.7;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1429366;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|16/90|c.2645-67A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2436;p3_1000G_AF=0.486422;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=15910;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141747293;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:570,42,0
chr2	140993892	rs11678316	C	T	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.001;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.892;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11678316;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|16/90|c.2644+103G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1877;p3_1000G_AF=0.3748;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=19090;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.3181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141751461;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:314,0,286
chr2	140994023	rs13007735	G	A	2113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.96;SOR=1.032;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13007735;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|16/91|c.2616C>T|p.Asp872Asp|3588/16531|2616/13800|872/4599||;p3_1000G_AA=G|||;p3_1000G_AC=2552;p3_1000G_AF=0.509585;p3_1000G_AFR_AF=0.6059;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=17244;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.3748;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141751592;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2406,2000;ESP6500_AA_AGE=615.0+/-392.5;ESP6500_AA_GTC=650,1106,447;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-5.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=125;ESP6500_EA_AC=2780,5820;ESP6500_EA_AGE=440.7+/-359.6;ESP6500_EA_GTC=451,1878,1971;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:coding-synonymous;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:140994023;ESP6500_GTC=1101,2984,2418;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.2616C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018557.2:p.(D872);ESP6500_MAF=32.3256,45.3926,39.8739;ESP6500_TAC=5186,7820	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2142,219,0
chr2	141059052	rs1525579	A	G	598.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1525579;dbSNPBuildID=88;ANN=G|splice_region_variant&synonymous_variant|LOW|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|9/91|c.1239T>C|p.Val413Val|2211/16531|1239/13800|413/4599||;p3_1000G_AA=G|||;p3_1000G_AC=4734;p3_1000G_AF=0.945288;p3_1000G_AFR_AF=0.8011;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=18461;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141816621;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3633,771;ESP6500_AA_AGE=302.7+/-287.5;ESP6500_AA_GTC=1496,641,65;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=72;ESP6500_EA_AC=8582,2;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4290,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:coding-synonymous;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:141059052;ESP6500_GTC=5786,643,65;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.1239T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018557.2:p.(V413);ESP6500_MAF=0.0233,17.5068,5.9516;ESP6500_TAC=12215,773	GT:AD:DP:GQ:PL	1/1:0,18:18:54:627,54,0
chr2	141188380	rs1249434	C	T	257.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.64;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1249434;dbSNPBuildID=87;ANN=T|sequence_feature|LOW|LRP1B|LRP1B|repeat:LDL-receptor_class_B_2|NM_018557.2|protein_coding|7/90|c.1013+41G>A||||||,T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|7/90|c.1013+41G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4993;p3_1000G_AF=0.997005;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18443;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=141945949;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4374,24;ESP6500_AA_AGE=26.2+/-53.5;ESP6500_AA_GTC=2175,24,0;ESP6500_CDS_SIZES=NM_018557.2:13800;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=35;ESP6500_EA_AC=8596,0;ESP6500_EA_GTC=4298,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018557.2:intron;ESP6500_GL=LRP1B;ESP6500_GRCh38_POSITION=2:141188380;ESP6500_GTC=6473,24,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018557.2:c.1013+41G>A;ESP6500_MAF=0.0,0.5457,0.1847;ESP6500_TAC=12970,24	GT:AD:DP:GQ:PL	1/1:0,9:9:27:286,27,0
chr2	141254458	rs431809	G	T	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.053;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=-0.263;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs431809;dbSNPBuildID=80;ANN=T|sequence_feature|LOW|LRP1B|LRP1B|domain:EGF-like_2|NM_018557.2|protein_coding|4/90|c.463+64C>A||||||,T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|4/90|c.463+64C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1071;p3_1000G_AF=0.213858;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=15970;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=142012027;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,6:30:99:104,0,1029
chr2	141254467	rs9973397	T	G	896.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=2.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.91;ReadPosRankSum=1.15;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9973397;dbSNPBuildID=119;ANN=G|sequence_feature|LOW|LRP1B|LRP1B|domain:EGF-like_2|NM_018557.2|protein_coding|4/90|c.463+55A>C||||||,G|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|4/90|c.463+55A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1549;p3_1000G_AF=0.309305;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.4726;p3_1000G_AN=5008;p3_1000G_DP=15925;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.3121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=142012036;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,27:36:99:925,0,262
chr2	141254732	rs373757	T	C	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=-0.903;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373757;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|3/90|c.344-91A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1075;p3_1000G_AF=0.214657;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=16984;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=142012301;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:79:79,0,221
chr2	141810148	rs879682499	AGAAAGAAAGAAAGAAAGAAG	A	330.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.62;ReadPosRankSum=-1.426;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=149;ANN=A|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|2/90|c.205+111_205+130delCTTCTTTCTTTCTTTCTTTC||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,10:14:99:0|1:141810148_AGAAAGAAAGAAAGAAAGAAG_A:368,0,138
chr2	141810169	rs28529494	G	T	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.913;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.65;ReadPosRankSum=-0.981;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28529494;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|2/90|c.205+110C>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1837;p3_1000G_AF=0.366813;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=16501;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=142567738;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,4:15:98:1|0:141810148_AGAAAGAAAGAAAGAAAGAAG_A:98,0,437
chr2	142130807	rs1375610	G	C	446.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.195;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.679;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1375610;dbSNPBuildID=88;ANN=C|5_prime_UTR_variant|MODIFIER|LRP1B|LRP1B|transcript|NM_018557.2|protein_coding|1/91|c.-78C>G|||||78|;p3_1000G_AA=C|||;p3_1000G_AC=2391;p3_1000G_AF=0.477436;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=12600;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=142888376;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,19:27:99:475,0,183
chr2	142918572	rs35434351	AT	A	71.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.758;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.586;SOR=2.093;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35434351;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001199241.1|protein_coding|3/14|c.170-20delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001032998.1|protein_coding|2/11|c.170-20delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_003937.2|protein_coding|2/13|c.170-20delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,5:8:40:109,0,40
chr2	142971023	rs970171	C	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.431;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs970171;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001199241.1|protein_coding|9/14|c.729+10253C>T||||||,T|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001032998.1|protein_coding|8/11|c.729+10253C>T||||||,T|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_003937.2|protein_coding|8/13|c.729+10253C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=494;p3_1000G_AF=0.0986422;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=21156;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=143728592;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:64:96,0,64
chr2	142971308	rs397838229;rs556734498;rs5834932;rs796980717	ATG	A	412.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=1.42;SOR=0.627;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5834932,rs3069669;dbSNPBuildID=146,142,138,130;ANN=A|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001199241.1|protein_coding|9/14|c.729+10562_729+10563delGT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001032998.1|protein_coding|8/11|c.729+10562_729+10563delGT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_003937.2|protein_coding|8/13|c.729+10562_729+10563delGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,15:25:99:450,0,262
chr2	142988925	rs10496935	C	G	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.373;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.179;SOR=1.421;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10496935;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001199241.1|protein_coding|11/14|c.902+2904C>G||||||,G|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001032998.1|protein_coding|11/11|c.*38+21C>G||||||,G|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_003937.2|protein_coding|10/13|c.902+2904C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1631;p3_1000G_AF=0.325679;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=20630;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=143746494;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=507,877;ESP6500_AA_GTC=91,325,276;ESP6500_CDS_SIZES=NM_003937.2:1398,NM_001199241.1:1398,NM_001032998.1:924;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=121;ESP6500_EA_AC=651,2531;ESP6500_EA_GTC=72,507,1012;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003937.2:intron,NM_001199241.1:intron,NM_001032998.1:intron;ESP6500_GL=KYNU;ESP6500_GRCh38_POSITION=2:142988925;ESP6500_GTC=163,832,1288;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003937.2:c.902+2904C>G,NM_001199241.1:c.902+2904C>G,NM_001032998.1:c.*59C>G;ESP6500_MAF=20.4588,36.6329,25.3614;ESP6500_TAC=1158,3408	GT:AD:DP:GQ:PL	0/1:15,15:30:99:414,0,411
chr2	143029592	rs6429999	C	A	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.055;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.211;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6429999;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001199241.1|protein_coding|11/14|c.903-35C>A||||||,A|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_003937.2|protein_coding|10/13|c.903-35C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=16819;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.7197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=143787161;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1904,2494;ESP6500_AA_GTC=524,856,819;ESP6500_CDS_SIZES=NM_003937.2:1398,NM_001199241.1:1398;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=36;ESP6500_EA_AC=5852,2746;ESP6500_EA_GTC=2281,1290,728;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003937.2:intron,NM_001199241.1:intron;ESP6500_GL=KYNU;ESP6500_GRCh38_POSITION=2:143029592;ESP6500_GTC=2805,2146,1547;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_003937.2:c.903-35C>A,NM_001199241.1:c.903-35C>A;ESP6500_MAF=31.9377,43.2924,40.3201;ESP6500_TAC=7756,5240	GT:AD:DP:GQ:PL	0/1:5,8:13:99:181,0,138
chr2	143029705	rs6430000	C	T	751.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.91;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6430000;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001199241.1|protein_coding|12/14|c.955+26C>T||||||,T|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_003937.2|protein_coding|11/13|c.955+26C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4888;p3_1000G_AF=0.976038;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=19025;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=143787274;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4303,103;ESP6500_AA_AGE=80.9+/-119.3;ESP6500_AA_GTC=2100,103,0;ESP6500_CDS_SIZES=NM_003937.2:1398,NM_001199241.1:1398;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=8591,7;ESP6500_EA_AGE=5.0+/-18.6;ESP6500_EA_GTC=4292,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003937.2:intron,NM_001199241.1:intron;ESP6500_GL=KYNU;ESP6500_GRCh38_POSITION=2:143029705;ESP6500_GTC=6392,110,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003937.2:c.955+26C>T,NM_001199241.1:c.955+26C>T;ESP6500_MAF=0.0814,2.3377,0.8459;ESP6500_TAC=12894,110	GT:AD:DP:GQ:PL	1/1:0,26:26:78:780,78,0
chr2	143033445	rs2304700	G	T	502.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.159;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=5.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.35;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304700;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_001199241.1|protein_coding|13/14|c.1041+124G>T||||||,T|intron_variant|MODIFIER|KYNU|KYNU|transcript|NM_003937.2|protein_coding|12/13|c.1041+124G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=715;p3_1000G_AF=0.142772;p3_1000G_AFR_AF=0.1233;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=20844;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=143791014;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,20:44:99:531,0,855
chr2	143040620	rs9013	A	G	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.795;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.185;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9013;dbSNPBuildID=108;ANN=G|structural_interaction_variant|HIGH|KYNU|KYNU|interaction|3E9K:A_412-A_457:NM_001199241.1|protein_coding|14/15|c.1234A>G||||||,G|structural_interaction_variant|HIGH|KYNU|KYNU|interaction|3E9K:A_412-A_457:NM_003937.2|protein_coding|13/14|c.1234A>G||||||,G|missense_variant|MODERATE|KYNU|KYNU|transcript|NM_001199241.1|protein_coding|14/15|c.1234A>G|p.Lys412Glu|1450/1758|1234/1398|412/465||,G|missense_variant|MODERATE|KYNU|KYNU|transcript|NM_003937.2|protein_coding|13/14|c.1234A>G|p.Lys412Glu|1364/1672|1234/1398|412/465||;p3_1000G_AA=A|||;p3_1000G_AC=880;p3_1000G_AF=0.175719;p3_1000G_AFR_AF=0.1422;p3_1000G_AMR_AF=0.0908;p3_1000G_AN=5008;p3_1000G_DP=19752;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.1879;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=143798189;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=614,3792;ESP6500_AA_AGE=265.3+/-266.6;ESP6500_AA_GTC=52,510,1641;ESP6500_CDS_SIZES=NM_003937.2:1398,NM_001199241.1:1398;ESP6500_CG=4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=48;ESP6500_EA_AC=1481,7119;ESP6500_EA_AGE=278.7+/-293.6;ESP6500_EA_GTC=133,1215,2952;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003937.2:missense,NM_001199241.1:missense;ESP6500_GL=KYNU;ESP6500_GRCh38_POSITION=2:143040620;ESP6500_GS=56,56;ESP6500_GTC=185,1725,4593;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003937.2:c.1234A>G,NM_001199241.1:c.1234A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003937.2:p.(K412E),NM_001199241.1:p.(K412E);ESP6500_MAF=17.2209,13.9355,16.108;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=2095,10911	GT:AD:DP:GQ:PL	0/1:10,15:25:99:373,0,241
chr2	143155435	rs2580857	T	G	106.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2580857;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ARHGAP15|ARHGAP15|transcript|NM_018460.3|protein_coding|1/13|c.-14-42T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4903;p3_1000G_AF=0.979034;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=19304;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=143913004;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:134,12,0
chr2	143216291	rs1451805	G	A	114.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1451805;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|ARHGAP15|ARHGAP15|transcript|NM_018460.3|protein_coding|3/13|c.235-93G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4288;p3_1000G_AF=0.85623;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=19326;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.7465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=143973860;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:142,12,0
chr2	143435582	rs11438710	C	CTT	297.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.855;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.07;ReadPosRankSum=-1.283;SOR=0.105;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34314047,rs11438710;dbSNPBuildID=137;ANN=CTT|splice_region_variant&intron_variant|LOW|ARHGAP15|ARHGAP15|transcript|NM_018460.3|protein_coding|6/13|c.475-6_475-5dupTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,9:11:38:277,0,38
chr2	143435724	rs12621011	C	T	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.106;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.124;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12621011;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ARHGAP15|ARHGAP15|transcript|NM_018460.3|protein_coding|7/13|c.573+25C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=579;p3_1000G_AF=0.115615;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=14843;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=144193293;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=26,4378;ESP6500_AA_AGE=20.2+/-43.8;ESP6500_AA_GTC=0,26,2176;ESP6500_CDS_SIZES=NM_018460.3:1428;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=88;ESP6500_EA_AC=163,8433;ESP6500_EA_AGE=57.5+/-118.9;ESP6500_EA_GTC=5,153,4140;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018460.3:intron;ESP6500_GL=ARHGAP15;ESP6500_GRCh38_POSITION=2:143435724;ESP6500_GTC=5,179,6316;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018460.3:c.573+25C>T;ESP6500_MAF=1.8962,0.5904,1.4538;ESP6500_TAC=189,12811	GT:AD:DP:GQ:PL	0/1:13,10:23:99:211,0,340
chr2	144141992	rs3731958	C	A	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.049;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.149;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731958;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|GTDC1|GTDC1|transcript|NM_001006636.3|protein_coding|6/12|c.411G>T|p.Met137Ile|690/2694|411/1377|137/458||,A|missense_variant|MODERATE|GTDC1|GTDC1|transcript|NM_001284233.1|protein_coding|4/9|c.411G>T|p.Met137Ile|499/2358|411/1131|137/376||,A|missense_variant|MODERATE|GTDC1|GTDC1|transcript|NM_024659.4|protein_coding|6/10|c.411G>T|p.Met137Ile|657/2406|411/1122|137/373||,A|missense_variant|MODERATE|GTDC1|GTDC1|transcript|NM_001164629.3|protein_coding|6/12|c.411G>T|p.Met137Ile|675/2679|411/1377|137/458||,A|missense_variant|MODERATE|GTDC1|GTDC1|transcript|NM_001284234.1|protein_coding|4/10|c.24G>T|p.Met8Ile|390/2394|24/990|8/329||,A|missense_variant|MODERATE|GTDC1|GTDC1|transcript|NM_001284238.1|protein_coding|8/14|c.315G>T|p.Met105Ile|889/2893|315/1281|105/426||,A|missense_variant|MODERATE|GTDC1|GTDC1|transcript|NM_001284235.1|protein_coding|6/7|c.411G>T|p.Met137Ile|657/2550|411/879|137/292||;p3_1000G_AA=A|||;p3_1000G_AC=3424;p3_1000G_AF=0.683706;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=18668;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.5447;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=144899559;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3209,1197;ESP6500_AA_AGE=415.0+/-337.0;ESP6500_AA_GTC=1146,917,140;ESP6500_CDS_SIZES=NM_024659.4:1122,NM_001164629.2:1377,NM_001006636.3:1377;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=71;ESP6500_EA_AC=4206,4392;ESP6500_EA_AGE=582.1+/-391.3;ESP6500_EA_GTC=1036,2134,1129;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024659.4:missense,NM_001164629.2:missense,NM_001006636.3:missense;ESP6500_GL=GTDC1;ESP6500_GRCh38_POSITION=2:144141992;ESP6500_GS=10,10,10;ESP6500_GTC=2182,3051,1269;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_024659.4:c.411G>T,NM_001164629.2:c.411G>T,NM_001006636.3:c.411G>T;ESP6500_HGVS_PROTEIN_VAR=NM_024659.4:p.(M137I),NM_001164629.2:p.(M137I),NM_001006636.3:p.(M137I);ESP6500_MAF=48.9184,27.1675,42.9791;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=7415,5589	GT:AD:DP:GQ:PL	0/1:10,9:19:99:252,0,290
chr2	144177088	rs397706907;rs5834992	A	AG	516.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=2.712;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5834992;dbSNPBuildID=135,138;ANN=AG|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001006636.3|protein_coding|4/11|c.180-31350dupC||||||,AG|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001284233.1|protein_coding|2/8|c.180-31350dupC||||||,AG|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_024659.4|protein_coding|4/9|c.180-31350dupC||||||,AG|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001164629.3|protein_coding|4/11|c.180-31350dupC||||||,AG|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001284234.1|protein_coding|2/9|c.-208-31350dupC||||||,AG|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001284238.1|protein_coding|6/13|c.83+46dupC||||||,AG|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001284235.1|protein_coding|4/6|c.180-31350dupC||||||;p3_1000G_AA=GGGGG|GGGG|GGGGG|deletion;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17066;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=144934655;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:51:554,51,0
chr2	144177252	rs5834993	T	TA	160.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.357;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-2.135;SOR=0.573;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5834993;dbSNPBuildID=138;ANN=TA|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001006636.3|protein_coding|4/11|c.179+31350dupT||||||,TA|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001284233.1|protein_coding|2/8|c.179+31350dupT||||||,TA|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_024659.4|protein_coding|4/9|c.179+31350dupT||||||,TA|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001164629.3|protein_coding|4/11|c.179+31350dupT||||||,TA|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001284234.1|protein_coding|2/9|c.-208-31514dupT||||||,TA|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001284238.1|protein_coding|5/13|c.-23-13dupT||||||,TA|intron_variant|MODIFIER|GTDC1|GTDC1|transcript|NM_001284235.1|protein_coding|4/6|c.179+31350dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3039;p3_1000G_AF=0.606829;p3_1000G_AFR_AF=0.6876;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=16345;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.4891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=144934819;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,9:14:94:198,0,94
chr2	144398164	rs10185359	T	C	379.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.52;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10185359;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ZEB2|ZEB2|transcript|NM_014795.3|protein_coding|8/9|c.2886+137A>G||||||,C|intron_variant|MODIFIER|ZEB2|ZEB2|transcript|NM_001171653.1|protein_coding|7/8|c.2814+137A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3388;p3_1000G_AF=0.676518;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=19528;p3_1000G_EAS_AF=0.8264;p3_1000G_EUR_AF=0.7773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=145155731;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:408,33,0
chr2	144497643	rs12691693	T	C	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.092;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.741;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12691693;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ZEB2|ZEB2|transcript|NM_014795.3|protein_coding|2/9|c.73+19635A>G||||||,C|intron_variant|MODIFIER|ZEB2|ZEB2|transcript|NM_001171653.1|protein_coding|2/8|c.73+19635A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2355;p3_1000G_AF=0.470248;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=12440;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.6402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=145255210;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:200,0,235
chr2	144497820	rs78783951	T	C	120.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=2.19;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78783951;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|ZEB2|ZEB2|transcript|NM_014795.3|protein_coding|2/9|c.73+19458A>G||||||,C|intron_variant|MODIFIER|ZEB2|ZEB2|transcript|NM_001171653.1|protein_coding|2/8|c.73+19458A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=528;p3_1000G_AF=0.105431;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=6796;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0.0736;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=145255387;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:94:149,0,94
chr2	147923193	rs2303391	A	G	117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.084;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303391;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ACVR2A|ACVR2A|transcript|NM_001278579.1|protein_coding|10/11|c.1216+82A>G||||||,G|intron_variant|MODIFIER|ACVR2A|ACVR2A|transcript|NM_001278580.1|protein_coding|9/10|c.892+82A>G||||||,G|intron_variant|MODIFIER|ACVR2A|ACVR2A|transcript|NM_001616.4|protein_coding|9/10|c.1216+82A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=434;p3_1000G_AF=0.0866613;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=18203;p3_1000G_EAS_AF=0.0675;p3_1000G_EUR_AF=0.0388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=148680762;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:55:146,0,55
chr2	147975979	rs2307399;rs397719519	T	TA	200.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.616;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=7.908;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0;SOR=2.712;INS;HET;VARTYPE=INS;dbSNP138_ID=rs2307399;dbSNPBuildID=135,138;ANN=TA|splice_region_variant&intron_variant|LOW|ORC4|ORC4|transcript|NM_001190879.2|protein_coding|2/14|c.-17-5dupT||||||,TA|splice_region_variant&intron_variant|LOW|ORC4|ORC4|transcript|NM_002552.4|protein_coding|1/13|c.-17-5dupT||||||,TA|splice_region_variant&intron_variant|LOW|ORC4|ORC4|transcript|NM_181741.3|protein_coding|1/13|c.-17-5dupT||||||,TA|splice_region_variant&intron_variant|LOW|ORC4|ORC4|transcript|NM_181742.3|protein_coding|1/13|c.-17-5dupT||||||,TA|intron_variant|MODIFIER|ORC4|ORC4|transcript|NM_001190882.2|protein_coding|1/12|c.-165-2456dupT||||||,TA|intron_variant|MODIFIER|ORC4|ORC4|transcript|NM_001190881.2|protein_coding|1/10|c.-27-17114dupT||||||;p3_1000G_AA=AAAAAAA|AAAAAAA|AAAAAAAA|insertion;p3_1000G_AC=3236;p3_1000G_AF=0.646166;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=17400;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.5915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=148733548;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:12,10:22:99:238,0,300
chr2	148483088	rs397823643;rs542594579;rs5835195	GT	G	1692.5	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.513;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=20.39;ReadPosRankSum=0.218;SOR=0.929;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5835195;dbSNPBuildID=137,142,138;ANN=G|intron_variant|MODIFIER|MBD5|MBD5|transcript|NM_018328.4|protein_coding|9/14|c.2519-9delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:10,73:83:3:1728,3,0
chr2	148485691	rs2121344	G	A	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.494;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.63;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2121344;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|MBD5|MBD5|transcript|NM_018328.4|protein_coding|10/14|c.2846-51G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3003;p3_1000G_AF=0.599641;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=17811;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149243260;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1610,2704;ESP6500_AA_GTC=343,924,890;ESP6500_CDS_SIZES=NM_018328.4:4485;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=8;ESP6500_EA_AC=5563,2863;ESP6500_EA_GTC=1926,1711,576;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018328.4:intron;ESP6500_GL=MBD5;ESP6500_GRCh38_POSITION=2:148485691;ESP6500_GTC=2269,2635,1466;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018328.4:c.2846-51G>A;ESP6500_MAF=33.9782,37.3204,43.697;ESP6500_TAC=7173,5567	GT:AD:DP:GQ:PL	0/1:8,8:16:99:172,0,200
chr2	148489337	rs111476224;~rs111476224	C	CT	276.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.401;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.53;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs111476224;dbSNPBuildID=132;ANN=CT|intron_variant|MODIFIER|MBD5|MBD5|transcript|NM_018328.4|protein_coding|11/14|c.3055-48dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TT|T|TT|deletion;p3_1000G_AC=623;p3_1000G_AF=0.124401;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=19187;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.0765;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149246906;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=INDEL;ESP6500_AA_AC=632,3634;ESP6500_AA_GTC=48,536,1549;ESP6500_CDS_SIZES=NM_018328.4:4485;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=26;ESP6500_EA_AC=568,7686;ESP6500_EA_GTC=27,514,3586;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018328.4:intron;ESP6500_GL=MBD5;ESP6500_GRCh38_POSITION=2:148489337;ESP6500_GTC=75,1050,5135;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018328.4:c.3055-49_3055-48insT;ESP6500_MAF=6.8815,14.8148,9.5847;ESP6500_TAC=1200,11320	GT:AD:DP:GQ:PL	0/1:10,10:20:99:314,0,314
chr2	148771514	rs4972266	T	C	554.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4972266;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|EPC2|EPC2|transcript|NM_015630.3|protein_coding|10/13|c.1720+127T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4779;p3_1000G_AF=0.954273;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18804;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149529083;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:148771514_T_C:583,42,0
chr2	148771526	rs13022974	A	G	464.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13022974;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|EPC2|EPC2|transcript|NM_015630.3|protein_coding|10/13|c.1720+139A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1187;p3_1000G_AF=0.237021;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=18607;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149529095;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:33:1|1:148771514_T_C:493,33,0
chr2	148997446	rs6738277	A	G	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.728;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.792;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6738277;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|KIF5C|KIF5C|transcript|NM_004522.2|protein_coding|18/25|c.2100+106A>G||||||,G|intron_variant|MODIFIER|KIF5C|KIF5C|transcript|NR_111932.1|pseudogene|11/19|n.1517+106A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3163;p3_1000G_AF=0.631589;p3_1000G_AFR_AF=0.8238;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=18244;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=149853960;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:153,0,131
chr2	149449189	rs11681264	G	A	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.65;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.39;ReadPosRankSum=-0.051;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11681264;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|LYPD6|LYPD6|transcript|NM_001195685.1|protein_coding|3/4|c.217+42G>A||||||,A|intron_variant|MODIFIER|LYPD6|LYPD6|transcript|NM_194317.3|protein_coding|3/4|c.217+42G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=960;p3_1000G_AF=0.191693;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=16907;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.1988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150305703;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=815,3591;ESP6500_AA_GTC=71,673,1459;ESP6500_CDS_SIZES=NM_194317.3:516,NM_001195685.1:516;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=1659,6941;ESP6500_EA_GTC=149,1361,2790;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194317.3:intron,NM_001195685.1:intron;ESP6500_GL=LYPD6;ESP6500_GRCh38_POSITION=2:149449189;ESP6500_GTC=220,2034,4249;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_194317.3:c.217+42G>A,NM_001195685.1:c.217+42G>A;ESP6500_MAF=19.2907,18.4975,19.022;ESP6500_TAC=2474,10532	GT:AD:DP:GQ:PL	0/1:14,6:20:99:136,0,447
chr2	149464113	rs34341723;rs397986219;rs879179160	TA	T	171.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.47;SOR=1.863;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34341723;dbSNPBuildID=126,147,138;ANN=T|intron_variant|MODIFIER|LYPD6|LYPD6|transcript|NM_001195685.1|protein_coding|3/4|c.218-4518delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|LYPD6|LYPD6|transcript|NM_194317.3|protein_coding|3/4|c.218-4518delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2372;p3_1000G_AF=0.473642;p3_1000G_AFR_AF=0.298;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=17691;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150320627;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:209,24,0
chr2	149571002	rs4500908	C	T	159.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4500908;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MMADHC|MMADHC|transcript|NM_015702.2|protein_coding|7/7|c.696+83G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3114;p3_1000G_AF=0.621805;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=12834;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.7604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150427516;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:188,15,0
chr2	149575863	rs12232959;260678	C	G	794.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.49;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12232959;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MMADHC|MMADHC|transcript|NM_015702.2|protein_coding|5/7|c.479-22G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3113;p3_1000G_AF=0.621605;p3_1000G_AFR_AF=0.2118;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=14263;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.7604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150432377;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1365,3017;ESP6500_AA_GTC=247,871,1073;ESP6500_CDS_SIZES=NM_015702.2:891;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=6680,1860;ESP6500_EA_GTC=2602,1476,192;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015702.2:intron;ESP6500_GL=MMADHC;ESP6500_GRCh38_POSITION=2:149575863;ESP6500_GTC=2849,2347,1265;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015702.2:c.479-22G>C;ESP6500_MAF=21.7799,31.1502,37.7418;ESP6500_TAC=8045,4877;CLINVAR_ALLELEID=250172;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.149575863C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=MMADHC:27249;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12232959	GT:AD:DP:GQ:PL	1/1:0,22:22:66:823,66,0
chr2	149576462	rs11545261;203836	C	T	1731.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.39;SOR=0.725;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11545261;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|MMADHC|MMADHC|transcript|NM_015702.2|protein_coding|5/8|c.453G>A|p.Gln151Gln|658/1437|453/891|151/296||;p3_1000G_AA=T|||;p3_1000G_AC=3804;p3_1000G_AF=0.759585;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=17574;p3_1000G_EAS_AF=0.876;p3_1000G_EUR_AF=0.8907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150432976;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2274,2132;ESP6500_AA_AGE=579.6+/-385.0;ESP6500_AA_GTC=613,1048,542;ESP6500_CDS_SIZES=NM_015702.2:891;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=145;ESP6500_EA_AC=7792,808;ESP6500_EA_AGE=187.3+/-234.6;ESP6500_EA_GTC=3521,750,29;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015702.2:coding-synonymous;ESP6500_GL=MMADHC;ESP6500_GRCh38_POSITION=2:149576462;ESP6500_GTC=4134,1798,571;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015702.2:c.453G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015702.2:p.(Q151);ESP6500_MAF=9.3953,48.3886,22.605;ESP6500_TAC=10066,2940;CLINVAR_ALLELEID=199984;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002912,MedGen:C0268583,SNOMED_CT:42393006|MedGen:C1848552,OMIM:277410|MedGen:CN043592|MedGen:CN169374;CLINVAR_CLNDN=Methylmalonic_acidemia|Methylmalonic_acidemia_with_homocystinuria_cblD|Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.149576462C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25922;CLINVAR_GENEINFO=MMADHC:27249;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11545261	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1760,183,0
chr2	149576614	rs11680630	C	G	445.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.29;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11680630;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MMADHC|MMADHC|transcript|NM_015702.2|protein_coding|4/7|c.373-72G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3162;p3_1000G_AF=0.63139;p3_1000G_AFR_AF=0.23;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=16412;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.7734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150433128;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:474,39,0
chr2	149579375	rs36108609	C	CAA	2047.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=2.16;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs36108609;dbSNPBuildID=126;ANN=CAA|intron_variant|MODIFIER|MMADHC|MMADHC|transcript|NM_015702.2|protein_coding|4/7|c.372+54_372+55dupTT||||||;p3_1000G_AC=3247;p3_1000G_AF=0.648363;p3_1000G_AFR_AF=0.292;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=15700;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.7734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150435889;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7577;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,47:47:99:2085,141,0
chr2	149587175	rs4667420	C	G	880.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=3.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667420;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|LOC101929231|LOC101929231|transcript|NR_110240.1|pseudogene||n.-183C>G|||||183|,G|intron_variant|MODIFIER|MMADHC|MMADHC|transcript|NM_015702.2|protein_coding|1/7|c.-52-26G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3448;p3_1000G_AF=0.688498;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=19587;p3_1000G_EAS_AF=0.876;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=150443689;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=484,900;ESP6500_AA_GTC=93,298,301;ESP6500_CDS_SIZES=NM_015702.2:891;ESP6500_CG=1.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=61;ESP6500_EA_AC=2880,302;ESP6500_EA_GTC=1304,272,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015702.2:intron;ESP6500_GL=MMADHC;ESP6500_GRCh38_POSITION=2:149587175;ESP6500_GTC=1397,570,316;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015702.2:c.-78G>C;ESP6500_MAF=9.4909,34.9711,26.325;ESP6500_TAC=3364,1202	GT:AD:DP:GQ:PL	1/1:0,25:25:75:909,75,0
chr2	150471770	rs11338446;rs397986259	GA	G	257.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=-0.679;SOR=2.147;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11338446;dbSNPBuildID=134,138;ANN=G|intron_variant|MODIFIER|RND3|RND3|transcript|NM_001254738.1|protein_coding|3/4|c.349-10delT||||||,G|intron_variant|MODIFIER|RND3|RND3|transcript|NM_005168.4|protein_coding|4/5|c.349-10delT||||||	GT:AD:DP:GQ:PL	0/1:2,10:12:9:264,0,9
chr2	151251747	rs4665119	T	G	277.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.78;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665119;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|RBM43|RBM43|transcript|NM_198557.2|protein_coding|3/3|c.316-83A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3804;p3_1000G_AF=0.759585;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=18082;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.8588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152108261;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:306,30,0
chr2	151252645	rs289885	C	T	439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs289885;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|RBM43|RBM43|transcript|NM_198557.2|protein_coding|3/3|c.315+110G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4893;p3_1000G_AF=0.977037;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16737;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152109159;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:468,42,0
chr2	151261266	rs2271811	T	C	395.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.45;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.883;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271811;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RBM43|RBM43|transcript|NM_198557.2|protein_coding|1/3|c.3+459A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1689;p3_1000G_AF=0.33726;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=18162;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.4374;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152117780;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,13:29:99:424,0,413
chr2	151261757	rs55775354	G	A	859.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.224;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.373;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.29;ReadPosRankSum=-0.036;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55775354;dbSNPBuildID=129;ANN=A|5_prime_UTR_variant|MODIFIER|RBM43|RBM43|transcript|NM_198557.2|protein_coding|1/4|c.-30C>T|||||30|;p3_1000G_AA=G|||;p3_1000G_AC=1536;p3_1000G_AF=0.306709;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=15792;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152118271;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=451,3939;ESP6500_AA_GTC=23,405,1767;ESP6500_CDS_SIZES=NM_198557.2:1074;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=28;ESP6500_EA_AC=3792,4760;ESP6500_EA_GTC=822,2148,1306;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198557.2:utr-5;ESP6500_GL=RBM43;ESP6500_GRCh38_POSITION=2:151261757;ESP6500_GTC=845,2553,3073;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198557.2:c.-30C>T;ESP6500_MAF=44.3405,10.2733,32.7847;ESP6500_TAC=4243,8699	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,22:34:99:0|1:151261757_G_A:888,0,467
chr2	151261761	rs56376752	A	G	859.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.322;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.29;ReadPosRankSum=0.108;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56376752;dbSNPBuildID=129;ANN=G|5_prime_UTR_variant|MODIFIER|RBM43|RBM43|transcript|NM_198557.2|protein_coding|1/4|c.-34T>C|||||34|;p3_1000G_AA=G|||;p3_1000G_AC=1691;p3_1000G_AF=0.33766;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=15785;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.4364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152118275;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=814,3580;ESP6500_AA_GTC=82,650,1465;ESP6500_CDS_SIZES=NM_198557.2:1074;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=29;ESP6500_EA_AC=3799,4757;ESP6500_EA_GTC=841,2117,1320;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198557.2:utr-5;ESP6500_GL=RBM43;ESP6500_GRCh38_POSITION=2:151261761;ESP6500_GTC=923,2767,2785;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198557.2:c.-34T>C;ESP6500_MAF=44.4016,18.5253,35.6216;ESP6500_TAC=4613,8337	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,22:34:99:0|1:151261757_G_A:888,0,466
chr2	151261824	rs35240993;~rs35240993	G	GT	222.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.32;SOR=0.813;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35240993;dbSNPBuildID=130;ANN=GT|5_prime_UTR_variant|MODIFIER|RBM43|RBM43|transcript|NM_198557.2|protein_coding|1/4|c.-98dupA|||||98|;p3_1000G_AA=TTTTTTT|TTTTTT|TTTTTTT|deletion;p3_1000G_AC=3395;p3_1000G_AF=0.677915;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=16720;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.5765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152118338;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=INDEL;ESP6500_AA_AC=3410,690;ESP6500_AA_GTC=1468,474,108;ESP6500_CDS_SIZES=NM_198557.2:1074;ESP6500_CG=2.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=24;ESP6500_EA_AC=4615,3395;ESP6500_EA_GTC=1436,1743,826;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198557.2:utr-5;ESP6500_GL=RBM43;ESP6500_GRCh38_POSITION=2:151261824;ESP6500_GTC=2904,2217,934;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_198557.2:c.-98_-97insA;ESP6500_MAF=42.3845,16.8293,33.7325;ESP6500_TAC=8025,4085	GT:AD:DP:GQ:PL	0/1:7,10:17:99:260,0,160
chr2	151282008	rs3771886	T	C	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.495;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=0.993;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771886;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|NMI|NMI|transcript|NM_004688.2|protein_coding|3/8|c.117A>G|p.Gln39Gln|447/1479|117/924|39/307||;p3_1000G_AA=T|||;p3_1000G_AC=2783;p3_1000G_AF=0.555711;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=15950;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.5577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152138522;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2790,1614;ESP6500_AA_AGE=656.1+/-400.0;ESP6500_AA_GTC=886,1018,298;ESP6500_CDS_SIZES=NM_004688.2:924;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=83;ESP6500_EA_AC=4968,3624;ESP6500_EA_AGE=620.6+/-397.1;ESP6500_EA_GTC=1429,2110,757;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004688.2:coding-synonymous;ESP6500_GL=NMI;ESP6500_GRCh38_POSITION=2:151282008;ESP6500_GTC=2315,3128,1055;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004688.2:c.117A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004688.2:p.(Q39);ESP6500_MAF=42.1788,36.6485,40.3047;ESP6500_TAC=7758,5238	GT:AD:DP:GQ:PL	0/1:4,11:15:99:280,0,116
chr2	151282902	rs1048135	G	A	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.3;ReadPosRankSum=-0.842;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1048135;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|NMI|NMI|transcript|NM_004688.2|protein_coding|2/8|c.47C>T|p.Ser16Leu|377/1479|47/924|16/307||,A|sequence_feature|MODERATE|NMI|NMI|modified-residue:phosphoserine|NM_004688.2|protein_coding|2/8|c.47C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1566;p3_1000G_AF=0.3127;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=13379;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152139416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=473,3925;ESP6500_AA_AGE=203.8+/-226.2;ESP6500_AA_GTC=21,431,1747;ESP6500_CDS_SIZES=NM_004688.2:924;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=53;ESP6500_EA_AC=3835,4727;ESP6500_EA_AGE=530.2+/-381.7;ESP6500_EA_GTC=845,2145,1291;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004688.2:missense;ESP6500_GL=NMI;ESP6500_GRCh38_POSITION=2:151282902;ESP6500_GS=145;ESP6500_GTC=866,2576,3038;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004688.2:c.47C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004688.2:p.(S16L);ESP6500_MAF=44.7909,10.7549,33.2407;ESP6500_PH=benign:0.0;ESP6500_TAC=4308,8652	GT:AD:DP:GQ:PL	0/1:4,2:6:54:54,0,81
chr2	151282979	rs10182245	A	G	50.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10182245;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NMI|NMI|transcript|NM_004688.2|protein_coding|1/7|c.-6-25T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2810;p3_1000G_AF=0.561102;p3_1000G_AFR_AF=0.6649;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=12829;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.5577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152139493;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2881,1311;ESP6500_AA_GTC=1012,857,227;ESP6500_CDS_SIZES=NM_004688.2:924;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=20;ESP6500_EA_AC=5026,3348;ESP6500_EA_GTC=1536,1954,697;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004688.2:intron;ESP6500_GL=NMI;ESP6500_GRCh38_POSITION=2:151282979;ESP6500_GTC=2548,2811,924;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004688.2:c.-31T>C;ESP6500_MAF=39.9809,31.2739,37.0762;ESP6500_TAC=7907,4659	GT:AD:DP:GQ:PL	0/1:1,3:4:23:79,0,23
chr2	151409959	rs2290368	T	C	479.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.154;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.919;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.827;SOR=0.327;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290368;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|1/36|c.-85T>C|||||465|,C|5_prime_UTR_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|1/35|c.-85T>C|||||465|,C|upstream_gene_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding||c.-465T>C|||||131|,C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|1/34|c.-11+20T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2192;p3_1000G_AF=0.4377;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=15465;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.4026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152266473;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,21:40:99:508,0,480
chr2	151410217	rs2290367	T	A	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.82;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.21;SOR=1.472;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290367;dbSNPBuildID=100;ANN=A|5_prime_UTR_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|1/34|c.-207T>A|||||207|,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|1/35|c.-11+184T>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|1/34|c.-11+184T>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|1/34|c.-10-197T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2208;p3_1000G_AF=0.440895;p3_1000G_AFR_AF=0.4213;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=11203;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152266731;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:128,0,160
chr2	151410558	rs4664045	T	G	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.85;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=8.671;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=0.601;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4664045;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|2/35|c.104+31T>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|2/34|c.104+31T>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|2/34|c.104+31T>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|1/33|c.104+31T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2161;p3_1000G_AF=0.43151;p3_1000G_AFR_AF=0.4183;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=15960;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152267072;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1701,2671;ESP6500_AA_GTC=353,995,838;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=15;ESP6500_EA_AC=3518,5076;ESP6500_EA_GTC=764,1990,1543;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018151.4:intron,NM_001177665.1:intron,NM_001177664.1:intron,NM_001177663.1:intron;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151410558;ESP6500_GTC=1117,2985,2381;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.104+31T>G,NM_001177665.1:c.104+31T>G,NM_001177664.1:c.104+31T>G,NM_001177663.1:c.104+31T>G;ESP6500_MAF=40.9355,38.9067,40.2514;ESP6500_TAC=5219,7747	GT:AD:DP:GQ:PL	0/1:21,6:27:99:163,0,563
chr2	151411158	rs7585604	G	A	89.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7585604;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|2/35|c.105-102G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|2/34|c.105-102G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|2/34|c.105-102G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|1/33|c.105-102G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4646;p3_1000G_AF=0.927716;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=16384;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152267672;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:117,9,0
chr2	151411207	rs66862523	AT	A	120.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.275;SOR=0.892;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs66862523;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|2/35|c.105-42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|2/34|c.105-42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|2/34|c.105-42delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|1/33|c.105-42delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1380;p3_1000G_AF=0.275559;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=15580;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.3519;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152267721;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,7:13:99:158,0,130
chr2	151411383	rs147405197;rs374684225	G	GT	60.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.121;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.06;ReadPosRankSum=0.55;SOR=0.883;INS;HET;VARTYPE=INS;dbSNP138_ID=rs147405197,rs374684225;dbSNPBuildID=134,138;ANN=GT|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|3/35|c.183+56dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|3/34|c.183+56dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|3/34|c.183+56dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|2/33|c.183+56dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:7,5:12:98:98,0,159
chr2	151416989	rs6735771	G	A	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.585;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.699;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6735771;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|6/35|c.503+88G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|6/34|c.503+88G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|6/34|c.503+88G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|5/33|c.503+88G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3447;p3_1000G_AF=0.688299;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=18342;p3_1000G_EAS_AF=0.752;p3_1000G_EUR_AF=0.673;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152273503;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:164,0,209
chr2	151433253	rs72860233	G	A	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.825;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-1.807;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72860233;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|10/35|c.1077+25G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|10/34|c.1077+25G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|10/34|c.1077+25G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|9/33|c.1077+25G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=988;p3_1000G_AF=0.197284;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=15725;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.3231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152289767;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=352,4054;ESP6500_AA_AGE=180.8+/-209.0;ESP6500_AA_GTC=9,334,1860;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=57;ESP6500_EA_AC=3018,5582;ESP6500_EA_AGE=462.2+/-365.6;ESP6500_EA_GTC=545,1928,1827;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018151.4:intron,NM_001177665.1:intron,NM_001177664.1:intron,NM_001177663.1:intron;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151433253;ESP6500_GTC=554,2262,3687;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.1077+25G>A,NM_001177665.1:c.1077+25G>A,NM_001177664.1:c.1077+25G>A,NM_001177663.1:c.1077+25G>A;ESP6500_MAF=35.093,7.9891,25.9111;ESP6500_TAC=3370,9636	GT:AD:DP:GQ:PL	0/1:5,7:12:99:200,0,141
chr2	151435655	rs34105266;rs397870279	GA	G	121.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.478;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-0.977;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34105266;dbSNPBuildID=134,138;ANN=G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|11/35|c.1195+84delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|11/34|c.1195+84delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|11/34|c.1195+84delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|10/33|c.1195+84delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion;p3_1000G_AC=1562;p3_1000G_AF=0.311901;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17477;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.327;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152292169;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,7:17:99:159,0,239
chr2	151437106	rs2444272	C	T	122.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2444272;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|12/35|c.1372+103C>T||||||,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|12/34|c.1372+103C>T||||||,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|12/34|c.1372+103C>T||||||,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|11/33|c.1372+103C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3202;p3_1000G_AF=0.639377;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=16257;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152293620;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:150,12,0
chr2	151438627	rs16830036	A	G	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.95;ReadPosRankSum=1.8;SOR=0.416;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16830036;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|13/35|c.1484-57A>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|13/34|c.1484-57A>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|13/34|c.1484-57A>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|12/33|c.1484-57A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1091;p3_1000G_AF=0.217851;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=18778;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.2952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152295141;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=104,1280;ESP6500_AA_GTC=2,100,590;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=150;ESP6500_EA_AC=843,2339;ESP6500_EA_GTC=100,643,848;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018151.4:intron,NM_001177665.1:intron,NM_001177664.1:intron,NM_001177663.1:intron;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151438627;ESP6500_GTC=102,743,1438;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.1484-57A>G,NM_001177665.1:c.1484-57A>G,NM_001177664.1:c.1484-57A>G,NM_001177663.1:c.1484-57A>G;ESP6500_MAF=26.4928,7.5145,20.7403;ESP6500_TAC=947,3619	GT:AD:DP:GQ:PL	0/1:18,5:23:96:96,0,433
chr2	151446657	rs2432941	G	A	307.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.2;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2432941;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|20/35|c.2244+82G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|20/34|c.2244+82G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|20/34|c.2244+82G>A||||||,A|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|19/33|c.2244+82G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3292;p3_1000G_AF=0.657348;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=17615;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.7256;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152303171;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:336,27,0
chr2	151455056	rs2444263	G	A	2230.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2444263;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_018151.4|protein_coding|22/36|c.2506G>A|p.Gly836Ser|2667/9855|2506/7419|836/2472||,A|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|22/35|c.2506G>A|p.Gly836Ser|2667/9777|2506/7341|836/2446||,A|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|22/35|c.2506G>A|p.Gly836Ser|2570/9680|2506/7341|836/2446||,A|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|21/34|c.2506G>A|p.Gly836Ser|2840/9950|2506/7341|836/2446||;p3_1000G_AA=A|||;p3_1000G_AC=3202;p3_1000G_AF=0.639377;p3_1000G_AFR_AF=0.5756;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=18133;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152311570;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2544,1862;ESP6500_AA_AGE=539.1+/-375.2;ESP6500_AA_GTC=738,1068,397;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=3.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=146;ESP6500_EA_AC=5701,2899;ESP6500_EA_AGE=453.5+/-363.3;ESP6500_EA_GTC=1887,1927,486;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018151.4:missense,NM_001177665.1:missense,NM_001177664.1:missense,NM_001177663.1:missense;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151455056;ESP6500_GS=56,56,56,56;ESP6500_GTC=2625,2995,883;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.2506G>A,NM_001177665.1:c.2506G>A,NM_001177664.1:c.2506G>A,NM_001177663.1:c.2506G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018151.4:p.(G836S),NM_001177665.1:p.(G836S),NM_001177664.1:p.(G836S),NM_001177663.1:p.(G836S);ESP6500_MAF=33.7093,42.2606,36.6062;ESP6500_PH=benign:0.013,benign:0.013,benign:0.013,benign:0.013;ESP6500_TAC=8245,4761	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2259,219,0
chr2	151457871	rs16830047	G	A	621.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.756;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.05;SOR=0.555;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16830047;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|RIF1|RIF1|transcript|NM_018151.4|protein_coding|24/36|c.2763G>A|p.Leu921Leu|2924/9855|2763/7419|921/2472||,A|synonymous_variant|LOW|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|24/35|c.2763G>A|p.Leu921Leu|2924/9777|2763/7341|921/2446||,A|synonymous_variant|LOW|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|24/35|c.2763G>A|p.Leu921Leu|2827/9680|2763/7341|921/2446||,A|synonymous_variant|LOW|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|23/34|c.2763G>A|p.Leu921Leu|3097/9950|2763/7341|921/2446||;p3_1000G_AA=G|||;p3_1000G_AC=1244;p3_1000G_AF=0.248403;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=15359;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.3211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152314385;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=557,3849;ESP6500_AA_AGE=250.9+/-257.8;ESP6500_AA_GTC=38,481,1684;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=90;ESP6500_EA_AC=2428,6172;ESP6500_EA_AGE=400.3+/-346.7;ESP6500_EA_GTC=337,1754,2209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018151.4:coding-synonymous,NM_001177665.1:coding-synonymous,NM_001177664.1:coding-synonymous,NM_001177663.1:coding-synonymous;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151457871;ESP6500_GTC=375,2235,3893;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.2763G>A,NM_001177665.1:c.2763G>A,NM_001177664.1:c.2763G>A,NM_001177663.1:c.2763G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018151.4:p.(L921),NM_001177665.1:p.(L921),NM_001177664.1:p.(L921),NM_001177663.1:p.(L921);ESP6500_MAF=28.2326,12.6419,22.9509;ESP6500_TAC=2985,10021	GT:AD:DP:GQ:PL	0/1:15,27:42:99:650,0,371
chr2	151459035	rs2444260	G	T	78.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2444260;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|25/35|c.2955+125G>T||||||,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|25/34|c.2955+125G>T||||||,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|25/34|c.2955+125G>T||||||,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|24/33|c.2955+125G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3201;p3_1000G_AF=0.639177;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=17177;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152315549;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:106,9,0
chr2	151461017	rs2045025	T	C	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.2;ReadPosRankSum=0.469;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2045025;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|26/35|c.3076-121T>C||||||,C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|26/34|c.3076-121T>C||||||,C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|26/34|c.3076-121T>C||||||,C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|25/33|c.3076-121T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1673;p3_1000G_AF=0.334065;p3_1000G_AFR_AF=0.4592;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=20077;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152317531;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:45:237,0,45
chr2	151462199	rs398060665;rs59316798	TATC	T	106.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.473;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.632;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs59316798;dbSNPBuildID=137,138;ANN=T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|27/35|c.3228-39_3228-37delATC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|27/34|c.3228-39_3228-37delATC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|27/34|c.3228-39_3228-37delATC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|26/33|c.3228-39_3228-37delATC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1245;p3_1000G_AF=0.248602;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=15032;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.3211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152318713;p3_1000G_GRCH37_REF=TATC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=INDEL;ESP6500_AA_AC=500,3602;ESP6500_AA_GTC=57,386,1608;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=36;ESP6500_EA_AC=2263,5919;ESP6500_EA_GTC=334,1595,2162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018151.4:intron,NM_001177665.1:intron,NM_001177664.1:intron,NM_001177663.1:intron;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151462199;ESP6500_GTC=391,1981,3770;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.3228-42_3228-40del3,NM_001177665.1:c.3228-42_3228-40del3,NM_001177664.1:c.3228-42_3228-40del3,NM_001177663.1:c.3228-42_3228-40del3;ESP6500_MAF=27.6583,12.1892,22.4927;ESP6500_TAC=2763,9521	GT:AD:DP:GQ:PL	0/1:8,4:12:99:144,0,384
chr2	151462334	rs150351738	A	G	215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.841;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.53;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150351738;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|28/35|c.3308+12A>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|28/34|c.3308+12A>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|28/34|c.3308+12A>G||||||,G|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|27/33|c.3308+12A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=51;p3_1000G_AF=0.0101837;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=13692;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152318848;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3,4387;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,3,2192;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=49;ESP6500_EA_AC=8,8580;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=0,8,4286;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018151.4:intron,NM_001177665.1:intron,NM_001177664.1:intron,NM_001177663.1:intron;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151462334;ESP6500_GTC=0,11,6478;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.3308+12A>G,NM_001177665.1:c.3308+12A>G,NM_001177664.1:c.3308+12A>G,NM_001177663.1:c.3308+12A>G;ESP6500_MAF=0.0932,0.0683,0.0848;ESP6500_TAC=11,12967	GT:AD:DP:GQ:PL	0/1:13,10:23:99:244,0,315
chr2	151463604	rs2123465	G	A	1508.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=0.735;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2123465;dbSNPBuildID=96;ANN=A|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_018151.4|protein_coding|30/36|c.4084G>A|p.Val1362Met|4245/9855|4084/7419|1362/2472||,A|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|30/35|c.4084G>A|p.Val1362Met|4245/9777|4084/7341|1362/2446||,A|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|30/35|c.4084G>A|p.Val1362Met|4148/9680|4084/7341|1362/2446||,A|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|29/34|c.4084G>A|p.Val1362Met|4418/9950|4084/7341|1362/2446||;p3_1000G_AA=A|||;p3_1000G_AC=3205;p3_1000G_AF=0.639976;p3_1000G_AFR_AF=0.5756;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=19752;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152320118;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2549,1855;ESP6500_AA_AGE=506.6+/-366.4;ESP6500_AA_GTC=751,1047,404;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=65;ESP6500_EA_AC=5698,2902;ESP6500_EA_AGE=449.9+/-362.2;ESP6500_EA_GTC=1887,1924,489;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018151.4:missense,NM_001177665.1:missense,NM_001177664.1:missense,NM_001177663.1:missense;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151463604;ESP6500_GS=21,21,21,21;ESP6500_GTC=2638,2971,893;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.4084G>A,NM_001177665.1:c.4084G>A,NM_001177664.1:c.4084G>A,NM_001177663.1:c.4084G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018151.4:p.(V1362M),NM_001177665.1:p.(V1362M),NM_001177664.1:p.(V1362M),NM_001177663.1:p.(V1362M);ESP6500_MAF=33.7442,42.1208,36.5811;ESP6500_PH=benign:0.013,benign:0.013,benign:0.013,benign:0.013;ESP6500_TAC=8247,4757	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1537,141,0
chr2	151465581	rs2444257	A	T	2126.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=0.844;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2444257;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_018151.4|protein_coding|30/36|c.6061A>T|p.Asn2021Tyr|6222/9855|6061/7419|2021/2472||,T|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|30/35|c.6061A>T|p.Asn2021Tyr|6222/9777|6061/7341|2021/2446||,T|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|30/35|c.6061A>T|p.Asn2021Tyr|6125/9680|6061/7341|2021/2446||,T|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|29/34|c.6061A>T|p.Asn2021Tyr|6395/9950|6061/7341|2021/2446||;p3_1000G_AA=T|||;p3_1000G_AC=3303;p3_1000G_AF=0.659545;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=18023;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.7276;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152322095;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2616,1790;ESP6500_AA_AGE=526.8+/-372.0;ESP6500_AA_GTC=784,1048,371;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=60;ESP6500_EA_AC=6269,2331;ESP6500_EA_AGE=390.1+/-343.2;ESP6500_EA_GTC=2283,1703,314;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018151.4:missense,NM_001177665.1:missense,NM_001177664.1:missense,NM_001177663.1:missense;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151465581;ESP6500_GS=143,143,143,143;ESP6500_GTC=3067,2751,685;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.6061A>T,NM_001177665.1:c.6061A>T,NM_001177664.1:c.6061A>T,NM_001177663.1:c.6061A>T;ESP6500_HGVS_PROTEIN_VAR=NM_018151.4:p.(N2021Y),NM_001177665.1:p.(N2021Y),NM_001177664.1:p.(N2021Y),NM_001177663.1:p.(N2021Y);ESP6500_MAF=27.1047,40.6264,31.6854;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=8885,4121	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2155,207,0
chr2	151468275	rs2444274	G	C	438.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.41;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2444274;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_018151.4|protein_coding|31/35|c.6747+129G>C||||||,C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|31/34|c.6747+129G>C||||||,C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|31/34|c.6747+129G>C||||||,C|intron_variant|MODIFIER|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|30/33|c.6747+129G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3206;p3_1000G_AF=0.640176;p3_1000G_AFR_AF=0.5772;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=18497;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.6789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152324789;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:467,33,0
chr2	151474904	rs1065177	C	G	1008.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1065177;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_018151.4|protein_coding|36/36|c.7252C>G|p.Leu2418Val|7413/9855|7252/7419|2418/2472||,G|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177663.1|protein_coding|35/35|c.7174C>G|p.Leu2392Val|7335/9777|7174/7341|2392/2446||,G|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177664.1|protein_coding|35/35|c.7174C>G|p.Leu2392Val|7238/9680|7174/7341|2392/2446||,G|missense_variant|MODERATE|RIF1|RIF1|transcript|NM_001177665.1|protein_coding|34/34|c.7174C>G|p.Leu2392Val|7508/9950|7174/7341|2392/2446||;p3_1000G_AA=G|||;p3_1000G_AC=3289;p3_1000G_AF=0.656749;p3_1000G_AFR_AF=0.5734;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=16592;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.7256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152331418;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2598,1808;ESP6500_AA_AGE=503.7+/-365.6;ESP6500_AA_GTC=774,1050,379;ESP6500_CDS_SIZES=NM_018151.4:7419,NM_001177665.1:7341,NM_001177664.1:7341,NM_001177663.1:7341;ESP6500_CG=-6.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=41;ESP6500_EA_AC=6265,2333;ESP6500_EA_AGE=382.8+/-340.5;ESP6500_EA_GTC=2281,1703,315;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018151.4:missense,NM_001177665.1:missense,NM_001177664.1:missense,NM_001177663.1:missense;ESP6500_GL=RIF1;ESP6500_GRCh38_POSITION=2:151474904;ESP6500_GS=32,32,32,32;ESP6500_GTC=3055,2753,694;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_018151.4:c.7252C>G,NM_001177665.1:c.7174C>G,NM_001177664.1:c.7174C>G,NM_001177663.1:c.7174C>G;ESP6500_HGVS_PROTEIN_VAR=NM_018151.4:p.(L2418V),NM_001177665.1:p.(L2392V),NM_001177664.1:p.(L2392V),NM_001177663.1:p.(L2392V);ESP6500_MAF=27.1342,41.035,31.844;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=8863,4141	GT:AD:DP:GQ:PL	1/1:0,33:33:98:1037,98,0
chr2	151485967	rs16830090;257806	A	G	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-1.512;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16830090;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|182/182|c.25510-34T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|181/181|c.25405-34T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|181/181|c.25405-34T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|148/148|c.19801-34T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1245;p3_1000G_AF=0.248602;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=22732;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.3211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152342481;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=467,3351;ESP6500_AA_GTC=34,399,1476;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=44;ESP6500_EA_AC=2326,5930;ESP6500_EA_GTC=324,1678,2126;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151485967;ESP6500_GTC=358,2077,3602;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.19837-34T>C,NM_001164508.1:c.25405-34T>C,NM_001164507.1:c.25405-34T>C;ESP6500_MAF=28.1734,12.2315,23.1324;ESP6500_TAC=2793,9281;CLINVAR_AF_ESP=0.2313;CLINVAR_AF_EXAC=0.28864;CLINVAR_AF_TGP=0.2486;CLINVAR_ALLELEID=250178;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151485967A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=16830090	GT:AD:DP:GQ:PL	0/1:12,15:27:99:471,0,290
chr2	151490465	rs1061305;95126	T	C	1404.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.35;ClippingRankSum=0;DP=120;ExcessHet=3.0103;FS=0.679;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.44;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1061305;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|181/183|c.25309A>G|p.Ile8437Val|25512/26307|25309/25683|8437/8560||,C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|180/182|c.25204A>G|p.Ile8402Val|25407/26202|25204/25578|8402/8525||,C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|180/182|c.25204A>G|p.Ile8402Val|25407/26202|25204/25578|8402/8525||,C|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|147/149|c.19600A>G|p.Ile6534Val|19803/20598|19600/19974|6534/6657||;p3_1000G_AA=T|||;p3_1000G_AC=1674;p3_1000G_AF=0.334265;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=16667;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.3738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152346979;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1744,2344;ESP6500_AA_GTC=390,964,690;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=62;ESP6500_EA_AC=3495,4927;ESP6500_EA_GTC=743,2009,1459;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151490465;ESP6500_GS=29,29,29;ESP6500_GTC=1133,2973,2149;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.19636A>G,NM_001164508.1:c.25204A>G,NM_001164507.1:c.25204A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(I6546V),NM_001164508.1:p.(I8402V),NM_001164507.1:p.(I8402V);ESP6500_MAF=41.4985,42.6614,41.8785;ESP6500_PH=benign:0.015,benign:0.015,benign:0.015;ESP6500_TAC=5239,7271;CLINVAR_AF_ESP=0.4188;CLINVAR_AF_EXAC=0.41358;CLINVAR_AF_TGP=0.3343;CLINVAR_ALLELEID=101026;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151490465T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25952|UniProtKB_(protein):P20929#VAR_056954;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1061305	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1433,0,1334
chr2	151492328	rs2288193;257804	T	A	582.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0.974;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.595;SOR=0.48;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288193;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|178/182|c.24979-47A>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|177/181|c.24874-47A>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|177/181|c.24874-47A>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|144/148|c.19270-47A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1010;p3_1000G_AF=0.201677;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=20308;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152348842;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=326,3490;ESP6500_AA_GTC=7,312,1589;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=60;ESP6500_EA_AC=2874,5372;ESP6500_EA_GTC=519,1836,1768;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151492328;ESP6500_GTC=526,2148,3357;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.19306-47A>T,NM_001164508.1:c.24874-47A>T,NM_001164507.1:c.24874-47A>T;ESP6500_MAF=34.8533,8.543,26.5296;ESP6500_TAC=3200,8862;CLINVAR_AF_ESP=0.2653;CLINVAR_AF_EXAC=0.29929;CLINVAR_AF_TGP=0.2017;CLINVAR_ALLELEID=250179;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151492328T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288193	GT:AD:DP:GQ:PL	0/1:40,26:66:99:611,0,1077
chr2	151492512	rs2288195;95122	G	A	1349.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288195;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|177/182|c.24871-18C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|176/181|c.24766-18C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|176/181|c.24766-18C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|143/148|c.19162-18C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3197;p3_1000G_AF=0.638379;p3_1000G_AFR_AF=0.5749;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=18171;p3_1000G_EAS_AF=0.7569;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152349026;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2254,1574;ESP6500_AA_GTC=670,914,330;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=60;ESP6500_EA_AC=5506,2756;ESP6500_EA_GTC=1833,1840,458;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151492512;ESP6500_GTC=2503,2754,788;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.19198-18C>T,NM_001164508.1:c.24766-18C>T,NM_001164507.1:c.24766-18C>T;ESP6500_MAF=33.3575,41.1181,35.8147;ESP6500_TAC=7760,4330;CLINVAR_ALLELEID=101022;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151492512G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288195	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:151492503_G_T:1378,126,0
chr2	151493948	rs4664455	T	C	350.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4664455;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|175/182|c.24685-81A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|174/181|c.24580-81A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|174/181|c.24580-81A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|141/148|c.18976-81A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3211;p3_1000G_AF=0.641174;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.7075;p3_1000G_AN=5008;p3_1000G_DP=17308;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152350462;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:379,30,0
chr2	151496329	rs7575451;95120	C	G	1542.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7575451;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|174/183|c.24538G>C|p.Ala8180Pro|24741/26307|24538/25683|8180/8560||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|173/182|c.24433G>C|p.Ala8145Pro|24636/26202|24433/25578|8145/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|173/182|c.24433G>C|p.Ala8145Pro|24636/26202|24433/25578|8145/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|140/149|c.18829G>C|p.Ala6277Pro|19032/20598|18829/19974|6277/6657||;p3_1000G_AA=G|||;p3_1000G_AC=3144;p3_1000G_AF=0.627796;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=17098;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.6541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152352843;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2203,1501;ESP6500_AA_GTC=660,883,309;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=79;ESP6500_EA_AC=5281,2917;ESP6500_EA_GTC=1705,1871,523;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151496329;ESP6500_GS=27,27,27;ESP6500_GTC=2365,2754,832;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.18865G>C,NM_001164508.1:c.24433G>C,NM_001164507.1:c.24433G>C;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(A6289P),NM_001164508.1:p.(A8145P),NM_001164507.1:p.(A8145P);ESP6500_MAF=35.5818,40.5238,37.1198;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=7484,4418;CLINVAR_ALLELEID=101020;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151496329C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25984;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7575451	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,53:53:99:1|1:151496329_C_G:1571,159,0
chr2	151496881	rs10497081	T	G	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.05;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.754;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.89;ReadPosRankSum=0.994;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10497081;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|173/182|c.24498+60A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|172/181|c.24393+60A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|172/181|c.24393+60A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|139/148|c.18790-513A>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=1016;p3_1000G_AF=0.202875;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=15392;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152353395;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,16:20:90:486,0,90
chr2	151518286	rs16830136;257792	G	A	1741.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16830136;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|157/182|c.22905+32C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|156/181|c.22800+32C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|156/181|c.22800+32C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|128/148|c.17661+32C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2684;p3_1000G_AF=0.535942;p3_1000G_AFR_AF=0.5098;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=19617;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152374800;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1961,1767;ESP6500_AA_GTC=517,927,420;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=159;ESP6500_EA_AC=5105,3095;ESP6500_EA_GTC=1598,1909,593;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151518286;ESP6500_GTC=2115,2836,1013;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.17697+32C>T,NM_001164508.1:c.22800+32C>T,NM_001164507.1:c.22800+32C>T;ESP6500_MAF=37.7439,47.3981,40.7612;ESP6500_TAC=7066,4862;CLINVAR_ALLELEID=250189;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151518286G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=16830136	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1770,174,0
chr2	151525381	rs2288196	G	A	194.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288196;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|151/182|c.22267-108C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|150/181|c.22162-108C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|150/181|c.22162-108C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|122/148|c.17023-108C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2726;p3_1000G_AF=0.544329;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=17982;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152381895;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:223,18,0
chr2	151525940	rs6721666;95116	C	G	639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6721666;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|151/182|c.22266+18G>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|150/181|c.22161+18G>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|150/181|c.22161+18G>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|122/148|c.17022+18G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2733;p3_1000G_AF=0.545727;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=21131;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.6233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152382454;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4059;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2163,1865;ESP6500_AA_GTC=598,967,449;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=189;ESP6500_EA_AC=5234,3164;ESP6500_EA_GTC=1640,1954,605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151525940;ESP6500_GTC=2238,2921,1054;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.17058+18G>C,NM_001164508.1:c.22161+18G>C,NM_001164507.1:c.22161+18G>C;ESP6500_MAF=37.6756,46.3009,40.4716;ESP6500_TAC=7397,5029;CLINVAR_ALLELEID=101016;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151525940C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6721666	GT:AD:DP:GQ:PL	1/1:0,21:21:63:668,63,0
chr2	151527399	rs2288198	T	C	260.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288198;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|148/182|c.21945+82A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|147/181|c.21840+82A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|147/181|c.21840+82A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|119/148|c.16701+82A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3039;p3_1000G_AF=0.606829;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=20108;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.6541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152383913;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:289,21,0
chr2	151531039	rs4664475;95114	T	C	1960.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=0.849;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4664475;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|146/183|c.21690A>G|p.Thr7230Thr|21893/26307|21690/25683|7230/8560||,C|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|145/182|c.21585A>G|p.Thr7195Thr|21788/26202|21585/25578|7195/8525||,C|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|145/182|c.21585A>G|p.Thr7195Thr|21788/26202|21585/25578|7195/8525||,C|synonymous_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|117/149|c.16446A>G|p.Thr5482Thr|16649/20598|16446/19974|5482/6657||;p3_1000G_AA=C|||;p3_1000G_AC=2462;p3_1000G_AF=0.491613;p3_1000G_AFR_AF=0.3525;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=18674;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152387553;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1672,2374;ESP6500_AA_GTC=353,966,704;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-11.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=187;ESP6500_EA_AC=5196,3158;ESP6500_EA_GTC=1625,1946,606;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:coding-synonymous,NM_001164508.1:coding-synonymous,NM_001164507.1:coding-synonymous;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151531039;ESP6500_GTC=1978,2912,1310;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.16482A>G,NM_001164508.1:c.21585A>G,NM_001164507.1:c.21585A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(T5494),NM_001164508.1:p.(T7195),NM_001164507.1:p.(T7195);ESP6500_MAF=37.8023,41.3248,44.6129;ESP6500_TAC=6868,5532;CLINVAR_AF_TGP=0.4916;CLINVAR_ALLELEID=101014;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151531039T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26004;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4664475	GT:AD:DP:GQ:PL	1/1:0,67:67:99:1989,201,0
chr2	151531078	rs149510427;95113	G	A	508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.229;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=1.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-0.78;SOR=0.95;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149510427;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|146/183|c.21651C>T|p.Asn7217Asn|21854/26307|21651/25683|7217/8560||,A|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|145/182|c.21546C>T|p.Asn7182Asn|21749/26202|21546/25578|7182/8525||,A|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|145/182|c.21546C>T|p.Asn7182Asn|21749/26202|21546/25578|7182/8525||,A|synonymous_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|117/149|c.16407C>T|p.Asn5469Asn|16610/20598|16407/19974|5469/6657||;p3_1000G_AA=G|||;p3_1000G_AC=93;p3_1000G_AF=0.0185703;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=1894;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152387592;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2,3926;ESP6500_AA_GTC=0,2,1962;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=146;ESP6500_EA_AC=21,8289;ESP6500_EA_GTC=0,21,4134;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:coding-synonymous,NM_001164508.1:coding-synonymous,NM_001164507.1:coding-synonymous;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151531078;ESP6500_GTC=0,23,6096;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.16443C>T,NM_001164508.1:c.21546C>T,NM_001164507.1:c.21546C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(N5481),NM_001164508.1:p.(N7182),NM_001164507.1:p.(N7182);ESP6500_MAF=0.2527,0.0509,0.1879;ESP6500_TAC=23,12215;CLINVAR_AF_ESP=0.0019;CLINVAR_AF_EXAC=0.01529;CLINVAR_AF_TGP=0.0186;CLINVAR_ALLELEID=101013;CLINVAR_CLNDISDB=MedGen:C1850569,OMIM:256030|MedGen:CN169374|MedGen:CN239479;CLINVAR_CLNDN=Nemaline_myopathy_2|not_specified|Nemaline_Myopathy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.151531078G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:82405;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=149510427	GT:AD:DP:GQ:PL	0/1:38,24:62:99:537,0,959
chr2	151531714	rs60806638	G	C	1376.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.02;SOR=1.312;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60806638;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|145/182|c.21627+78C>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|144/181|c.21522+78C>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|144/181|c.21522+78C>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|116/148|c.16383+78C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2507;p3_1000G_AF=0.500599;p3_1000G_AFR_AF=0.3525;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=18397;p3_1000G_EAS_AF=0.5625;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152388228;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1405,129,0
chr2	151531901	rs56026241;95112	AT	A	1420.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.73;SOR=1.552;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56026241;dbSNPBuildID=134;ANN=A|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|144/182|c.21523-6delA||||||,A|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|143/181|c.21418-6delA||||||,A|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|143/181|c.21418-6delA||||||,A|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|115/148|c.16279-6delA||||||;p3_1000G_AA=TT|TT|T|deletion;p3_1000G_AC=2460;p3_1000G_AF=0.491214;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=18412;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.6213;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152388415;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=INDEL;ESP6500_AA_AC=1374,2132;ESP6500_AA_GTC=284,806,663;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=3.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=76;ESP6500_EA_AC=4832,2992;ESP6500_EA_GTC=1509,1814,589;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151531901;ESP6500_GTC=1793,2620,1252;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.16315-6del1,NM_001164508.1:c.21418-6del1,NM_001164507.1:c.21418-6del1;ESP6500_MAF=38.2413,39.19,45.2251;ESP6500_TAC=6206,5124;CLINVAR_AF_TGP=0.4912;CLINVAR_ALLELEID=101012;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151531902delT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498056;CLINVAR_GENEINFO=NEB:4703|RIF1:55183;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56026241	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1458,117,0
chr2	151538020	rs3732310;257786	T	G	1876.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.93;SOR=0.877;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3732310;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|139/182|c.20998-44A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|139/181|c.20998-44A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|139/181|c.20998-44A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|111/148|c.15859-44A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2498;p3_1000G_AF=0.498802;p3_1000G_AFR_AF=0.3775;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=18105;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152394534;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1533,2089;ESP6500_AA_GTC=331,871,609;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=45;ESP6500_EA_AC=5048,3086;ESP6500_EA_GTC=1576,1896,595;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151538020;ESP6500_GTC=1907,2767,1204;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.15895-44A>C,NM_001164508.1:c.20998-44A>C,NM_001164507.1:c.20998-44A>C;ESP6500_MAF=37.9395,42.3247,44.0201;ESP6500_TAC=6581,5175;CLINVAR_AF_TGP=0.4988;CLINVAR_ALLELEID=250194;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151538020T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3732310	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,57:57:99:1|1:151538014_C_A:1905,171,0
chr2	151546500	rs4664486	C	T	1437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=1.464;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4664486;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|133/182|c.20368-57G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|133/181|c.20368-57G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|133/181|c.20368-57G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|105/148|c.15229-57G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2626;p3_1000G_AF=0.524361;p3_1000G_AFR_AF=0.444;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=19726;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.6302;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152403014;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1466,138,0
chr2	151547780	rs2288201;257783	C	T	569.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288201;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|131/182|c.20158-42G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|131/181|c.20158-42G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|131/181|c.20158-42G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|103/148|c.15019-42G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3125;p3_1000G_AF=0.624002;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=19191;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.6342;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152404294;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2261,1479;ESP6500_AA_GTC=689,883,298;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=5134,3046;ESP6500_EA_GTC=1620,1894,576;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151547780;ESP6500_GTC=2309,2777,874;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.15055-42G>A,NM_001164508.1:c.20158-42G>A,NM_001164507.1:c.20158-42G>A;ESP6500_MAF=37.2372,39.5455,37.9614;ESP6500_TAC=7395,4525;CLINVAR_ALLELEID=250198;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151547780C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288201	GT:AD:DP:GQ:PL	1/1:0,18:18:54:598,54,0
chr2	151552902	rs2288203	C	T	712.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=4.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288203;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|127/182|c.19732-126G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|127/181|c.19732-126G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|127/181|c.19732-126G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|99/148|c.14593-126G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2615;p3_1000G_AF=0.522165;p3_1000G_AFR_AF=0.4425;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=19787;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152409416;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:741,69,0
chr2	151553295	rs4575719	C	A	727.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4575719;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|127/182|c.19731+103G>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|127/181|c.19731+103G>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|127/181|c.19731+103G>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|99/148|c.14592+103G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2477;p3_1000G_AF=0.494609;p3_1000G_AFR_AF=0.4009;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=19775;p3_1000G_EAS_AF=0.5496;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152409809;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:756,69,0
chr2	151560550	rs2288206;257779	G	A	337.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.264;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.98;ReadPosRankSum=0.752;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288206;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|124/182|c.19314+42C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|124/181|c.19314+42C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|124/181|c.19314+42C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|96/148|c.14175+42C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1447;p3_1000G_AF=0.288938;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=13827;p3_1000G_EAS_AF=0.3234;p3_1000G_EUR_AF=0.2903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152417064;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1192,2578;ESP6500_AA_GTC=236,720,929;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=32;ESP6500_EA_AC=2158,6028;ESP6500_EA_GTC=370,1418,2305;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151560550;ESP6500_GTC=606,2138,3234;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.14211+42C>T,NM_001164508.1:c.19314+42C>T,NM_001164507.1:c.19314+42C>T;ESP6500_MAF=26.3621,31.618,28.0194;ESP6500_TAC=3350,8606;CLINVAR_AF_ESP=0.2802;CLINVAR_AF_EXAC=0.36306;CLINVAR_AF_TGP=0.2889;CLINVAR_ALLELEID=250202;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151560550G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288206	GT:AD:DP:GQ:PL	0/1:2,11:13:44:366,0,44
chr2	151560797	rs3214502;rs397722862	T	TC	215.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.736;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.235;SOR=0.446;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3214502;dbSNPBuildID=106,138;ANN=TC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|123/182|c.19207-99dupG||||||,TC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|123/181|c.19207-99dupG||||||,TC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|123/181|c.19207-99dupG||||||,TC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|95/148|c.14068-99dupG||||||;p3_1000G_AA=CCC|CCC|CCCC|insertion;p3_1000G_AC=1037;p3_1000G_AF=0.207069;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=17562;p3_1000G_EAS_AF=0.2659;p3_1000G_EUR_AF=0.3161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152417311;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,9:17:99:253,0,224
chr2	151561484	rs55846441	G	C	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.963;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55846441;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|121/182|c.18997-172C>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|121/181|c.18997-172C>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|121/181|c.18997-172C>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|93/148|c.13858-172C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1114;p3_1000G_AF=0.222444;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=17842;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152417998;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,6:13:99:0|1:151561484_G_C:215,0,218
chr2	151561485	rs7424331	C	T	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7424331;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|121/182|c.18997-173G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|121/181|c.18997-173G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|121/181|c.18997-173G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|93/148|c.13858-173G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3268;p3_1000G_AF=0.652556;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=17897;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.6839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152417999;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:39:1|1:151561484_G_C:495,39,0
chr2	151565423	rs7602715	A	G	463.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.42;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.776;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7602715;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|116/182|c.18366+78T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|116/181|c.18366+78T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|116/181|c.18366+78T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|88/148|c.13227+78T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1391;p3_1000G_AF=0.277756;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=16495;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152421937;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,15:29:99:492,0,393
chr2	151565562	rs2288210;95109	C	G	3000.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=0.959;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288210;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|116/183|c.18305G>C|p.Arg6102Thr|18508/26307|18305/25683|6102/8560||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|116/182|c.18305G>C|p.Arg6102Thr|18508/26202|18305/25578|6102/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|116/182|c.18305G>C|p.Arg6102Thr|18508/26202|18305/25578|6102/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|88/149|c.13166G>C|p.Arg4389Thr|13369/20598|13166/19974|4389/6657||;p3_1000G_AA=G|||;p3_1000G_AC=3271;p3_1000G_AF=0.653155;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=19494;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.6839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152422076;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2280,1400;ESP6500_AA_GTC=705,870,265;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=5438,2760;ESP6500_EA_GTC=1812,1814,473;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151565562;ESP6500_GS=71,71,71;ESP6500_GTC=2517,2684,738;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.13202G>C,NM_001164508.1:c.18305G>C,NM_001164507.1:c.18305G>C;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(R4401T),NM_001164508.1:p.(R6102T),NM_001164507.1:p.(R6102T);ESP6500_MAF=33.6667,38.0435,35.0227;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=7718,4160;CLINVAR_ALLELEID=101009;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151565562C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26026|UniProtKB_(protein):P20929#VAR_047708;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288210	GT:AD:DP:GQ:PL	1/1:0,91:91:99:3029,273,0
chr2	151565573	rs2288211;95108	A	G	1459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=1.696;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.052;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288211;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|116/183|c.18294T>C|p.Tyr6098Tyr|18497/26307|18294/25683|6098/8560||,G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|116/182|c.18294T>C|p.Tyr6098Tyr|18497/26202|18294/25578|6098/8525||,G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|116/182|c.18294T>C|p.Tyr6098Tyr|18497/26202|18294/25578|6098/8525||,G|synonymous_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|88/149|c.13155T>C|p.Tyr4385Tyr|13358/20598|13155/19974|4385/6657||;p3_1000G_AA=A|||;p3_1000G_AC=1121;p3_1000G_AF=0.223842;p3_1000G_AFR_AF=0.0363;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=19432;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152422087;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=314,3372;ESP6500_AA_GTC=8,298,1537;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=2380,5802;ESP6500_EA_GTC=349,1682,2060;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:coding-synonymous,NM_001164508.1:coding-synonymous,NM_001164507.1:coding-synonymous;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151565573;ESP6500_GTC=357,1980,3597;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.13191T>C,NM_001164508.1:c.18294T>C,NM_001164507.1:c.18294T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(Y4397),NM_001164508.1:p.(Y6098),NM_001164507.1:p.(Y6098);ESP6500_MAF=29.0882,8.5187,22.6997;ESP6500_TAC=2694,9174;CLINVAR_AF_ESP=0.2270;CLINVAR_AF_EXAC=0.29548;CLINVAR_AF_TGP=0.2238;CLINVAR_ALLELEID=101008;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151565573A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26045;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288211	GT:AD:DP:GQ:PL	0/1:40,55:95:99:1488,0,972
chr2	151568419	rs3214503;rs539518038;331463	T	TA	95.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.921;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3214503;dbSNPBuildID=136,137;ANN=TA|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|111/182|c.17635-3dupT||||||,TA|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|111/181|c.17635-3dupT||||||,TA|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|111/181|c.17635-3dupT||||||,TA|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|83/148|c.12496-3dupT||||||;p3_1000G_AC=2537;p3_1000G_AF=0.506589;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=17746;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.5477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152424933;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=284405;CLINVAR_CLNDISDB=MedGen:CN239479;CLINVAR_CLNDN=Nemaline_Myopathy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.151568420dupA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:561505;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3214503	GT:AD:DP:GQ:PL	0/1:2,6:8:28:133,0,28
chr2	151569178	rs3732312	T	C	548.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.778;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732312;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|110/182|c.17535+90A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|110/181|c.17535+90A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|110/181|c.17535+90A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|82/148|c.12396+90A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1121;p3_1000G_AF=0.223842;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=21153;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.327;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152425692;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,20:36:99:577,0,440
chr2	151570735	rs7568873	A	G	528.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.65;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7568873;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|107/182|c.17014-134T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|107/181|c.17014-134T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|107/181|c.17014-134T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|79/148|c.11875-134T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3244;p3_1000G_AF=0.647764;p3_1000G_AFR_AF=0.5976;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=17140;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.6789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152427249;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:557,45,0
chr2	151576372	rs61254943;95105	G	A	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.011;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.25;ReadPosRankSum=-1.248;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61254943;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|105/182|c.16705-18C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|105/181|c.16705-18C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|105/181|c.16705-18C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|77/148|c.11566-18C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1322;p3_1000G_AF=0.263978;p3_1000G_AFR_AF=0.2269;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=9216;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.2853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152432886;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=889,2913;ESP6500_AA_GTC=105,679,1117;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=73;ESP6500_EA_AC=2058,6182;ESP6500_EA_GTC=252,1554,2314;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151576372;ESP6500_GTC=357,2233,3431;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.11602-18C>T,NM_001164508.1:c.16705-18C>T,NM_001164507.1:c.16705-18C>T;ESP6500_MAF=24.9757,23.3824,24.4727;ESP6500_TAC=2947,9095;CLINVAR_AF_ESP=0.2447;CLINVAR_AF_TGP=0.2640;CLINVAR_ALLELEID=101005;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151576372G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=61254943	GT:AD:DP:GQ:PL	0/1:4,7:11:98:229,0,98
chr2	151579326	rs62174689;257766	C	G	707.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=26.34;QD=29.49;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs149322880;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|105/182|c.16704+12G>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|105/181|c.16704+12G>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|105/181|c.16704+12G>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|77/148|c.11566-2972G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1540;p3_1000G_AF=0.307508;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=13266;p3_1000G_EAS_AF=0.4712;p3_1000G_EUR_AF=0.493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152435840;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1677;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.3075;CLINVAR_ALLELEID=250212;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151579326C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=62174689	GT:AD:DP:GQ:PL	1/1:0,24:24:72:736,72,0
chr2	151591331	rs11436831;rs146388415;257749	G	GC	427.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.998;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=2.345;MLEAC=1;MLEAF=0.5;MQ=36.35;MQRankSum=-1.922;QD=4.92;ReadPosRankSum=1.78;SOR=1.115;INS;HET;VARTYPE=INS;dbSNP138_ID=rs146388415;dbSNPBuildID=134;ANN=GC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|96/182|c.14934+16_14934+17insG||||||,GC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|96/181|c.14934+16_14934+17insG||||||,GC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|96/181|c.14934+16_14934+17insG||||||,GC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|77/148|c.11566-14978_11566-14977insG||||||;p3_1000G_AA=?|-|C|unsure;p3_1000G_AC=778;p3_1000G_AF=0.155351;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs146388415;p3_1000G_DP=34087;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.2187;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152447845;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=INDEL;ESP6500_AA_AC=230,3012;ESP6500_AA_GTC=18,194,1409;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=292;ESP6500_EA_AC=1631,5101;ESP6500_EA_GTC=125,1381,1860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151591331;ESP6500_GTC=143,1575,3269;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.11602-14978_11602-14977insG,NM_001164508.1:c.14934+16_14934+17insG,NM_001164507.1:c.14934+16_14934+17insG;ESP6500_MAF=24.2276,7.0944,18.6585;ESP6500_TAC=1861,8113;CLINVAR_ALLELEID=250227;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151591331_151591332insC;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11436831	GT:AD:DP:GQ:PL	0/1:69,18:87:99:465,0,2516
chr2	151592126	rs10909569;257743	T	C	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=52.98;MQRankSum=-6.211;QD=2.77;ReadPosRankSum=0.76;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200541641;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|95/183|c.14734A>G|p.Asn4912Asp|14937/26307|14734/25683|4912/8560||,C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|95/182|c.14734A>G|p.Asn4912Asp|14937/26202|14734/25578|4912/8525||,C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|95/182|c.14734A>G|p.Asn4912Asp|14937/26202|14734/25578|4912/8525||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|77/148|c.11566-15772A>G||||||;CLINVAR_AF_EXAC=0.17749;CLINVAR_ALLELEID=250234;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151592126T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10909569;CLINVAR_SSR=1	GT:AD:DP:GQ:PL	0/1:59,15:74:99:233,0,1502
chr2	151615903	rs62174707	C	T	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.004;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.799;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62174707;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|76/182|c.11289+99G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|76/181|c.11289+99G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|76/181|c.11289+99G>A||||||,T|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|72/148|c.10524+99G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=996;p3_1000G_AF=0.198882;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=16392;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.2584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152472417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:86:86,0,237
chr2	151617487	rs4303716;496130	A	G	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.992;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4303716;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|74/182|c.11077-19T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|74/181|c.11077-19T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|74/181|c.11077-19T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|70/148|c.10312-19T>C||||||;CLINVAR_ALLELEID=486894;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151617487A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4303716	GT:AD:DP:GQ:PL	0/1:3,8:11:99:193,0,132
chr2	151618326	rs199789085;331478	C	T	549.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.557;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=5.225;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.163;SOR=1.733;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199789085;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|74/183|c.11025G>A|p.Thr3675Thr|11228/26307|11025/25683|3675/8560||,T|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|74/182|c.11025G>A|p.Thr3675Thr|11228/26202|11025/25578|3675/8525||,T|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|74/182|c.11025G>A|p.Thr3675Thr|11228/26202|11025/25578|3675/8525||,T|synonymous_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|70/149|c.10260G>A|p.Thr3420Thr|10463/20598|10260/19974|3420/6657||;p3_1000G_AA=C|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17499;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152474840;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00022;CLINVAR_AF_TGP=0.0006;CLINVAR_ALLELEID=282162;CLINVAR_CLNDISDB=MedGen:C1850569,OMIM:256030|MedGen:CN169374|MedGen:CN239479;CLINVAR_CLNDN=Nemaline_myopathy_2|not_specified|Nemaline_Myopathy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.151618326C>T;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Likely_benign(3),Uncertain_significance(1);CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:766701;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=199789085	GT:AD:DP:GQ:PL	0/1:15,22:37:99:578,0,412
chr2	151619424	rs10186656;257720	T	G	886.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.226;SOR=0.657;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10186656;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|73/182|c.10872+27A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|73/181|c.10872+27A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|73/181|c.10872+27A>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|69/148|c.10107+27A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1246;p3_1000G_AF=0.248802;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=22508;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152475938;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=690,3260;ESP6500_AA_GTC=60,570,1345;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=92;ESP6500_EA_AC=3190,5140;ESP6500_EA_GTC=611,1968,1586;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151619424;ESP6500_GTC=671,2538,2931;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.10143+27A>C,NM_001164508.1:c.10872+27A>C,NM_001164507.1:c.10872+27A>C;ESP6500_MAF=38.2953,17.4684,31.5961;ESP6500_TAC=3880,8400;CLINVAR_AF_ESP=0.3160;CLINVAR_AF_EXAC=0.34076;CLINVAR_AF_TGP=0.2488;CLINVAR_ALLELEID=250255;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151619424T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10186656	GT:AD:DP:GQ:PL	0/1:35,34:69:99:915,0,945
chr2	151619514	rs10172023;95102	C	G	1823.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.15;ClippingRankSum=0;DP=117;ExcessHet=3.0103;FS=0.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=-1.093;SOR=0.84;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10172023;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|73/183|c.10809G>C|p.Trp3603Cys|11012/26307|10809/25683|3603/8560||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|73/182|c.10809G>C|p.Trp3603Cys|11012/26202|10809/25578|3603/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|73/182|c.10809G>C|p.Trp3603Cys|11012/26202|10809/25578|3603/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|69/149|c.10044G>C|p.Trp3348Cys|10247/20598|10044/19974|3348/6657||;p3_1000G_AA=C|||;p3_1000G_AC=1101;p3_1000G_AF=0.219848;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=21041;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.3062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152476028;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=564,3494;ESP6500_AA_GTC=42,480,1507;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=153;ESP6500_EA_AC=2784,5616;ESP6500_EA_GTC=483,1818,1899;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151619514;ESP6500_GS=215,215,215;ESP6500_GTC=525,2298,3406;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.10080G>C,NM_001164508.1:c.10809G>C,NM_001164507.1:c.10809G>C;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(W3360C),NM_001164508.1:p.(W3603C),NM_001164507.1:p.(W3603C);ESP6500_MAF=33.1429,13.8985,26.8743;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=3348,9110;CLINVAR_AF_ESP=0.2687;CLINVAR_AF_EXAC=0.28911;CLINVAR_AF_TGP=0.2199;CLINVAR_ALLELEID=101002;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151619514C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53697|UniProtKB_(protein):P20929#VAR_047704;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10172023	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1852,0,1491
chr2	151625463	rs10186482	A	G	419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10186482;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|71/182|c.10452+71T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|71/181|c.10452+71T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|71/181|c.10452+71T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|67/148|c.9687+71T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2286;p3_1000G_AF=0.45647;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=18116;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152481977;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:448,42,0
chr2	151631060	rs4233653	T	C	573.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.45;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.34;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4233653;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|66/182|c.9618+83A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|66/181|c.9618+83A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|66/181|c.9618+83A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|62/148|c.8854-241A>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=1137;p3_1000G_AF=0.227037;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=19591;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152487574;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,18:38:99:602,0,523
chr2	151633705	rs6709886;226848	A	G	6177.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=197;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=1.044;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6709886;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|65/183|c.9363T>C|p.Pro3121Pro|9566/26307|9363/25683|3121/8560||,G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|65/182|c.9363T>C|p.Pro3121Pro|9566/26202|9363/25578|3121/8525||,G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|65/182|c.9363T>C|p.Pro3121Pro|9566/26202|9363/25578|3121/8525||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|62/148|c.8854-2886T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3135;p3_1000G_AF=0.625998;p3_1000G_AFR_AF=0.5227;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=19052;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.6521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152490219;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.547;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=714,670;ESP6500_AA_GTC=180,354,158;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-11.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=112;ESP6500_EA_AC=2020,1162;ESP6500_EA_GTC=652,716,223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:coding-synonymous,NM_001164507.1:coding-synonymous;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151633705;ESP6500_GTC=832,1070,381;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.8854-2527T>C,NM_001164508.1:c.9363T>C,NM_001164507.1:c.9363T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001164508.1:p.(P3121),NM_001164507.1:p.(P3121);ESP6500_MAF=36.5179,48.4104,40.1226;ESP6500_TAC=2734,1832;CLINVAR_ALLELEID=228541;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151633705A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6709886	GT:AD:DP:GQ:PL	1/1:0,196:196:99:6206,589,0
chr2	151633944	rs6710212;226847	A	G	3993.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=120;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=1.71;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6710212;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|65/183|c.9124T>C|p.Cys3042Arg|9327/26307|9124/25683|3042/8560||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|65/182|c.9124T>C|p.Cys3042Arg|9327/26202|9124/25578|3042/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|65/182|c.9124T>C|p.Cys3042Arg|9327/26202|9124/25578|3042/8525||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|62/148|c.8854-3125T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=4868;p3_1000G_AF=0.972045;p3_1000G_AFR_AF=0.8964;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21130;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152490458;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1276,108;ESP6500_AA_GTC=591,94,7;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=6.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=72;ESP6500_EA_AC=3179,3;ESP6500_EA_GTC=1588,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151633944;ESP6500_GS=.,180,180;ESP6500_GTC=2179,97,7;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.8854-2766T>C,NM_001164508.1:c.9124T>C,NM_001164507.1:c.9124T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_001164508.1:p.(C3042R),NM_001164507.1:p.(C3042R);ESP6500_MAF=0.0943,7.8035,2.431;ESP6500_TAC=4455,111;CLINVAR_ALLELEID=228542;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151633944A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6710212	GT:AD:DP:GQ:PL	1/1:0,120:120:99:4022,360,0
chr2	151640012	rs6713162;129761	A	G	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.273;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.257;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=1.22;SOR=0.498;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6713162;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|62/183|c.8734T>C|p.Ser2912Pro|8937/26307|8734/25683|2912/8560||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|62/182|c.8734T>C|p.Ser2912Pro|8937/26202|8734/25578|2912/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|62/182|c.8734T>C|p.Ser2912Pro|8937/26202|8734/25578|2912/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|62/149|c.8734T>C|p.Ser2912Pro|8937/20598|8734/19974|2912/6657||;p3_1000G_AA=G|||;p3_1000G_AC=2230;p3_1000G_AF=0.445288;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=19009;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152496526;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2256,1518;ESP6500_AA_GTC=681,894,312;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=118;ESP6500_EA_AC=1358,6874;ESP6500_EA_GTC=124,1110,2882;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151640012;ESP6500_GS=74,74,74;ESP6500_GTC=805,2004,3194;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.8734T>C,NM_001164508.1:c.8734T>C,NM_001164507.1:c.8734T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(S2912P),NM_001164508.1:p.(S2912P),NM_001164507.1:p.(S2912P);ESP6500_MAF=16.4966,40.2226,30.1016;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3614,8392;CLINVAR_AF_ESP=0.3010;CLINVAR_AF_EXAC=0.25401;CLINVAR_AF_TGP=0.4453;CLINVAR_ALLELEID=135207;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151640012A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53683|UniProtKB_(protein):P20929#VAR_047702;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6713162	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,15:37:99:0|1:151640002_G_T:381,0,545
chr2	151643935	rs13013209;95137	C	G	3609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.578;ClippingRankSum=0;DP=229;ExcessHet=3.0103;FS=1.017;MLEAC=1;MLEAF=0.5;MQ=59.92;MQRankSum=0.143;QD=15.76;ReadPosRankSum=0.223;SOR=0.74;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13013209;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|57/183|c.7839G>C|p.Lys2613Asn|8042/26307|7839/25683|2613/8560||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|57/182|c.7839G>C|p.Lys2613Asn|8042/26202|7839/25578|2613/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|57/182|c.7839G>C|p.Lys2613Asn|8042/26202|7839/25578|2613/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|57/149|c.7839G>C|p.Lys2613Asn|8042/20598|7839/19974|2613/6657||;p3_1000G_AA=C|||;p3_1000G_AC=1469;p3_1000G_AF=0.293331;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=19755;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152500449;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=407,3733;ESP6500_AA_GTC=27,353,1690;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=351;ESP6500_EA_AC=3979,4421;ESP6500_EA_GTC=941,2097,1162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151643935;ESP6500_GS=94,94,94;ESP6500_GTC=968,2450,2852;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.7839G>C,NM_001164508.1:c.7839G>C,NM_001164507.1:c.7839G>C;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(K2613N),NM_001164508.1:p.(K2613N),NM_001164507.1:p.(K2613N);ESP6500_MAF=47.369,9.8309,34.9761;ESP6500_PH=probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=4386,8154;CLINVAR_AF_ESP=0.3498;CLINVAR_AF_EXAC=0.41497;CLINVAR_AF_TGP=0.2933;CLINVAR_ALLELEID=101037;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151643935C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26090|UniProtKB_(protein):P20929#VAR_047700;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13013209	GT:AD:DP:GQ:PL	0/1:103,126:229:99:3638,0,2905
chr2	151655264	rs10930723;129756	A	C	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.986;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.823;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=-1.2;SOR=0.191;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10930723;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|51/182|c.6807+6T>G||||||,C|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|51/181|c.6807+6T>G||||||,C|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|51/181|c.6807+6T>G||||||,C|splice_region_variant&intron_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|51/148|c.6807+6T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2158;p3_1000G_AF=0.430911;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=14764;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152511778;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2039,1543;ESP6500_AA_GTC=584,871,336;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=47;ESP6500_EA_AC=1357,6751;ESP6500_EA_GTC=129,1099,2826;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151655264;ESP6500_GTC=713,1970,3162;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.6807+6T>G,NM_001164508.1:c.6807+6T>G,NM_001164507.1:c.6807+6T>G;ESP6500_MAF=16.7366,43.0765,29.0505;ESP6500_TAC=3396,8294;CLINVAR_AF_ESP=0.2905;CLINVAR_AF_EXAC=0.34114;CLINVAR_AF_TGP=0.4309;CLINVAR_ALLELEID=135202;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151655264A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53702;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10930723	GT:AD:DP:GQ:PL	0/1:3,15:18:71:381,0,71
chr2	151659169	rs75807392;129752	G	A	478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.805;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=6.835;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.906;SOR=0.119;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75807392;dbSNPBuildID=131;ANN=A|missense_variant&splice_region_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|47/183|c.5971C>T|p.His1991Tyr|6174/26307|5971/25683|1991/8560||,A|missense_variant&splice_region_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|47/182|c.5971C>T|p.His1991Tyr|6174/26202|5971/25578|1991/8525||,A|missense_variant&splice_region_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|47/182|c.5971C>T|p.His1991Tyr|6174/26202|5971/25578|1991/8525||,A|missense_variant&splice_region_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|47/149|c.5971C>T|p.His1991Tyr|6174/20598|5971/19974|1991/6657||;p3_1000G_AA=G|||;p3_1000G_AC=461;p3_1000G_AF=0.0920527;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=15218;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.0696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152515683;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=58,3602;ESP6500_AA_GTC=1,56,1773;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=169;ESP6500_EA_AC=442,7738;ESP6500_EA_GTC=17,408,3665;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense-near-splice,NM_001164508.1:missense-near-splice,NM_001164507.1:missense-near-splice;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151659169;ESP6500_GS=83,83,83;ESP6500_GTC=18,464,5438;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.5971C>T,NM_001164508.1:c.5971C>T,NM_001164507.1:c.5971C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(H1991Y),NM_001164508.1:p.(H1991Y),NM_001164507.1:p.(H1991Y);ESP6500_MAF=5.4034,1.5847,4.223;ESP6500_PH=possibly-damaging:0.677,possibly-damaging:0.677,possibly-damaging:0.677;ESP6500_TAC=500,11340;CLINVAR_AF_ESP=0.0422;CLINVAR_AF_EXAC=0.07739;CLINVAR_AF_TGP=0.0921;CLINVAR_ALLELEID=135198;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.151659169G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:63888;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=75807392	GT:AD:DP:GQ:PL	0/1:15,20:35:99:507,0,490
chr2	151662322	.	T	C	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.502;SOR=0.582;SNP;HET;VARTYPE=SNP;ANN=C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|46/183|c.5783A>G|p.Tyr1928Cys|5986/26307|5783/25683|1928/8560||,C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|46/182|c.5783A>G|p.Tyr1928Cys|5986/26202|5783/25578|1928/8525||,C|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|46/182|c.5783A>G|p.Tyr1928Cys|5986/26202|5783/25578|1928/8525||,C|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|46/149|c.5783A>G|p.Tyr1928Cys|5986/20598|5783/19974|1928/6657||	GT:AD:DP:GQ:PL	0/1:8,5:13:99:176,0,229
chr2	151663513	rs12620077;257822	A	G	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=19.071;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.976;SOR=4.977;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12620077;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|45/182|c.5763+35T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|45/181|c.5763+35T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|45/181|c.5763+35T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|45/148|c.5763+35T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2104;p3_1000G_AF=0.420128;p3_1000G_AFR_AF=0.6354;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=22367;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.174;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152520027;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2081,1763;ESP6500_AA_GTC=570,941,411;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=95;ESP6500_EA_AC=1380,6886;ESP6500_EA_GTC=128,1124,2881;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151663513;ESP6500_GTC=698,2065,3292;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.5763+35T>C,NM_001164508.1:c.5763+35T>C,NM_001164507.1:c.5763+35T>C;ESP6500_MAF=16.6949,45.8637,28.5797;ESP6500_TAC=3461,8649;CLINVAR_AF_ESP=0.2858;CLINVAR_AF_EXAC=0.24867;CLINVAR_AF_TGP=0.4201;CLINVAR_ALLELEID=250275;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151663513A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12620077	GT:AD:DP:GQ:PL	0/1:10,11:21:99:277,0,287
chr2	151664582	rs10170273;129746	C	T	665.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.117;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0.97;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.478;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10170273;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|44/183|c.5370G>A|p.Glu1790Glu|5573/26307|5370/25683|1790/8560||,T|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|44/182|c.5370G>A|p.Glu1790Glu|5573/26202|5370/25578|1790/8525||,T|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|44/182|c.5370G>A|p.Glu1790Glu|5573/26202|5370/25578|1790/8525||,T|synonymous_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|44/149|c.5370G>A|p.Glu1790Glu|5573/20598|5370/19974|1790/6657||;p3_1000G_AA=T|||;p3_1000G_AC=2178;p3_1000G_AF=0.434904;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=21577;p3_1000G_EAS_AF=0.627;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152521096;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2157,1563;ESP6500_AA_GTC=633,891,336;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=101;ESP6500_EA_AC=1366,6852;ESP6500_EA_GTC=128,1110,2871;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:coding-synonymous,NM_001164508.1:coding-synonymous,NM_001164507.1:coding-synonymous;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151664582;ESP6500_GTC=761,2001,3207;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.5370G>A,NM_001164508.1:c.5370G>A,NM_001164507.1:c.5370G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(E1790),NM_001164508.1:p.(E1790),NM_001164507.1:p.(E1790);ESP6500_MAF=16.622,42.0161,29.5108;ESP6500_TAC=3523,8415;CLINVAR_AF_ESP=0.2951;CLINVAR_AF_EXAC=0.30184;CLINVAR_AF_TGP=0.4349;CLINVAR_ALLELEID=135192;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151664582C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53773;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10170273	GT:AD:DP:GQ:PL	0/1:38,26:64:99:694,0,1023
chr2	151666042	rs4664496;257816	T	C	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.05;ReadPosRankSum=-1.495;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4664496;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|41/182|c.5031+48A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|41/181|c.5031+48A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|41/181|c.5031+48A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|41/148|c.5031+48A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1507;p3_1000G_AF=0.300919;p3_1000G_AFR_AF=0.3926;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=17801;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.1203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152522556;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1225,2711;ESP6500_AA_GTC=199,827,942;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=62;ESP6500_EA_AC=848,7462;ESP6500_EA_GTC=58,732,3365;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151666042;ESP6500_GTC=257,1559,4307;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.5031+48A>G,NM_001164508.1:c.5031+48A>G,NM_001164507.1:c.5031+48A>G;ESP6500_MAF=10.2046,31.123,16.928;ESP6500_TAC=2073,10173;CLINVAR_AF_ESP=0.1693;CLINVAR_AF_EXAC=0.17679;CLINVAR_AF_TGP=0.3009;CLINVAR_ALLELEID=250281;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151666042T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4664496	GT:AD:DP:GQ:PL	0/1:5,10:15:99:344,0,143
chr2	151668957	rs58903550	A	G	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.967;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58903550;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|39/182|c.4611+70T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|39/181|c.4611+70T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|39/181|c.4611+70T>C||||||,G|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|39/148|c.4611+70T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1689;p3_1000G_AF=0.33726;p3_1000G_AFR_AF=0.4561;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=16707;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152525471;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:135,0,275
chr2	151671058	rs7426114;95131	C	T	443.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.42;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.443;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.598;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7426114;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|38/183|c.4471G>A|p.Val1491Met|4674/26307|4471/25683|1491/8560||,T|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|38/182|c.4471G>A|p.Val1491Met|4674/26202|4471/25578|1491/8525||,T|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|38/182|c.4471G>A|p.Val1491Met|4674/26202|4471/25578|1491/8525||,T|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|38/149|c.4471G>A|p.Val1491Met|4674/20598|4471/19974|1491/6657||;p3_1000G_AA=C|||;p3_1000G_AC=2670;p3_1000G_AF=0.533147;p3_1000G_AFR_AF=0.1959;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=22583;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.8231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152527572;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.635;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1356,2878;ESP6500_AA_GTC=226,904,987;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=5.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=150;ESP6500_EA_AC=7030,1414;ESP6500_EA_GTC=2942,1146,134;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151671058;ESP6500_GS=21,21,21;ESP6500_GTC=3168,2050,1121;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.4471G>A,NM_001164508.1:c.4471G>A,NM_001164507.1:c.4471G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(V1491M),NM_001164508.1:p.(V1491M),NM_001164507.1:p.(V1491M);ESP6500_MAF=16.7456,32.0265,33.8539;ESP6500_PH=possibly-damaging:0.82,possibly-damaging:0.82,possibly-damaging:0.82;ESP6500_TAC=8386,4292;CLINVAR_ALLELEID=101031;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151671058C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25960|UniProtKB_(protein):P20929#VAR_047698;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7426114	GT:AD:DP:GQ:PL	0/1:25,18:43:99:472,0,812
chr2	151671094	rs34577613;129744	C	T	897.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.161;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=5.043;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.455;SOR=1.333;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34577613;dbSNPBuildID=126;ANN=T|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|38/183|c.4435G>A|p.Val1479Ile|4638/26307|4435/25683|1479/8560||,T|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|38/182|c.4435G>A|p.Val1479Ile|4638/26202|4435/25578|1479/8525||,T|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|38/182|c.4435G>A|p.Val1479Ile|4638/26202|4435/25578|1479/8525||,T|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|38/149|c.4435G>A|p.Val1479Ile|4638/20598|4435/19974|1479/6657||;p3_1000G_AA=T|||;p3_1000G_AC=1679;p3_1000G_AF=0.335264;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=21763;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.1223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152527608;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1503,2705;ESP6500_AA_GTC=261,981,862;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=163;ESP6500_EA_AC=920,7532;ESP6500_EA_GTC=58,804,3364;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151671094;ESP6500_GS=29,29,29;ESP6500_GTC=319,1785,4226;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.4435G>A,NM_001164508.1:c.4435G>A,NM_001164507.1:c.4435G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(V1479I),NM_001164508.1:p.(V1479I),NM_001164507.1:p.(V1479I);ESP6500_MAF=10.885,35.7177,19.139;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=2423,10237;CLINVAR_AF_ESP=0.1914;CLINVAR_AF_EXAC=0.18986;CLINVAR_AF_TGP=0.3353;CLINVAR_ALLELEID=135190;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151671094C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:63359|UniProtKB_(protein):P20929#VAR_047697;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34577613	GT:AD:DP:GQ:PL	0/1:26,39:65:99:926,0,611
chr2	151674563	rs6711382;167336	A	G	858.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.959;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=2.1;SOR=0.854;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6711382;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|36/183|c.3901T>C|p.Tyr1301His|4104/26307|3901/25683|1301/8560||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|36/182|c.3901T>C|p.Tyr1301His|4104/26202|3901/25578|1301/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|36/182|c.3901T>C|p.Tyr1301His|4104/26202|3901/25578|1301/8525||,G|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|36/149|c.3901T>C|p.Tyr1301His|4104/20598|3901/19974|1301/6657||;p3_1000G_AA=G|||;p3_1000G_AC=3586;p3_1000G_AF=0.716054;p3_1000G_AFR_AF=0.5938;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=20056;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.8817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152531077;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2596,1336;ESP6500_AA_GTC=846,904,216;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=94;ESP6500_EA_AC=7412,894;ESP6500_EA_GTC=3315,782,56;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151674563;ESP6500_GS=83,83,83;ESP6500_GTC=4161,1686,272;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.3901T>C,NM_001164508.1:c.3901T>C,NM_001164507.1:c.3901T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(Y1301H),NM_001164508.1:p.(Y1301H),NM_001164507.1:p.(Y1301H);ESP6500_MAF=10.7633,33.9776,18.2219;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10008,2230;CLINVAR_ALLELEID=177860;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151674563A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6711382	GT:AD:DP:GQ:PL	0/1:21,32:53:99:887,0,488
chr2	151675267	rs12618063;167337	C	A	268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.129;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.348;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-0.323;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12618063;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|35/182|c.3879+20G>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|35/181|c.3879+20G>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|35/181|c.3879+20G>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|35/148|c.3879+20G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1441;p3_1000G_AF=0.28774;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=17412;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.1203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152531781;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1092,2696;ESP6500_AA_GTC=157,778,959;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=111;ESP6500_EA_AC=882,7344;ESP6500_EA_GTC=56,770,3287;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151675267;ESP6500_GTC=213,1548,4246;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.3879+20G>T,NM_001164508.1:c.3879+20G>T,NM_001164507.1:c.3879+20G>T;ESP6500_MAF=10.7221,28.8279,16.4308;ESP6500_TAC=1974,10040;CLINVAR_AF_ESP=0.1643;CLINVAR_AF_EXAC=0.25478;CLINVAR_AF_TGP=0.2877;CLINVAR_ALLELEID=177861;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151675267C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12618063	GT:AD:DP:GQ:PL	0/1:22,13:35:99:297,0,539
chr2	151679984	rs6735208;95128	T	A	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.924;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-1.043;SOR=1.058;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6735208;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|NEB|NEB|transcript|NM_001271208.1|protein_coding|31/183|c.3081A>T|p.Lys1027Asn|3284/26307|3081/25683|1027/8560||,A|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164507.1|protein_coding|31/182|c.3081A>T|p.Lys1027Asn|3284/26202|3081/25578|1027/8525||,A|missense_variant|MODERATE|NEB|NEB|transcript|NM_001164508.1|protein_coding|31/182|c.3081A>T|p.Lys1027Asn|3284/26202|3081/25578|1027/8525||,A|missense_variant|MODERATE|NEB|NEB|transcript|NM_004543.4|protein_coding|31/149|c.3081A>T|p.Lys1027Asn|3284/20598|3081/19974|1027/6657||;p3_1000G_AA=T|||;p3_1000G_AC=2922;p3_1000G_AF=0.583466;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=16767;p3_1000G_EAS_AF=0.4563;p3_1000G_EUR_AF=0.8121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152536498;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1662,2230;ESP6500_AA_GTC=362,938,646;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=155;ESP6500_EA_AC=6827,1433;ESP6500_EA_GTC=2830,1167,133;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004543.4:missense,NM_001164508.1:missense,NM_001164507.1:missense;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151679984;ESP6500_GS=94,94,94;ESP6500_GTC=3192,2105,779;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.3081A>T,NM_001164508.1:c.3081A>T,NM_001164507.1:c.3081A>T;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(K1027N),NM_001164508.1:p.(K1027N),NM_001164507.1:p.(K1027N);ESP6500_MAF=17.3487,42.703,30.1432;ESP6500_PH=probably-damaging:0.982,probably-damaging:0.982,probably-damaging:0.982;ESP6500_TAC=8489,3663;CLINVAR_ALLELEID=101028;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151679984T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25981|UniProtKB_(protein):P20929#VAR_047694;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6735208	GT:AD:DP:GQ:PL	0/1:18,19:37:99:557,0,555
chr2	151694696	rs10193188	G	A	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.987;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=7.197;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.951;SOR=0.103;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10193188;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|18/182|c.1675-67C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|18/181|c.1675-67C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|18/181|c.1675-67C>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|18/148|c.1675-67C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2118;p3_1000G_AF=0.422923;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=16805;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152551210;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,14:35:99:375,0,676
chr2	151695548	rs6433569;257767	A	C	416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.188;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.055;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6433569;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|18/182|c.1674+30T>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|18/181|c.1674+30T>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|18/181|c.1674+30T>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|18/148|c.1674+30T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2498;p3_1000G_AF=0.498802;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.8199;p3_1000G_AN=5008;p3_1000G_DP=19431;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.8002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152552062;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=873,2963;ESP6500_AA_GTC=114,645,1159;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=78;ESP6500_EA_AC=6748,1528;ESP6500_EA_GTC=2753,1242,143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:intron,NM_001164508.1:intron,NM_001164507.1:intron;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151695548;ESP6500_GTC=2867,1887,1302;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.1674+30T>G,NM_001164508.1:c.1674+30T>G,NM_001164507.1:c.1674+30T>G;ESP6500_MAF=18.463,22.7581,37.0789;ESP6500_TAC=7621,4491;CLINVAR_AF_TGP=0.4988;CLINVAR_ALLELEID=250296;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151695548A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6433569	GT:AD:DP:GQ:PL	0/1:26,19:45:99:445,0,664
chr2	151695828	rs4564766	T	A	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.11;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4564766;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|17/182|c.1570-146A>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|17/181|c.1570-146A>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|17/181|c.1570-146A>T||||||,A|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|17/148|c.1570-146A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2162;p3_1000G_AF=0.431709;p3_1000G_AFR_AF=0.6626;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=20832;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.1889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152552342;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:125,0,142
chr2	151717388	rs1473811003;rs34733773;257832	A	AGGC	995.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.35;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.1;ReadPosRankSum=-0.632;SOR=0.641;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34733773;dbSNPBuildID=151;ANN=AGGC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|10/182|c.822+25_822+27dupGCC||||||,AGGC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|10/181|c.822+25_822+27dupGCC||||||,AGGC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|10/181|c.822+25_822+27dupGCC||||||,AGGC|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|10/148|c.822+25_822+27dupGCC||||||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=19249;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152573902;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=250301;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151717389_151717391dupGGC;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=397718862	GT:AD:DP:GQ:PL	0/1:28,27:55:99:1033,0,1246
chr2	151717467	rs4611637;95136	A	G	603.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.082;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.431;SOR=0.908;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4611637;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001271208.1|protein_coding|10/183|c.771T>C|p.Ala257Ala|974/26307|771/25683|257/8560||,G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164507.1|protein_coding|10/182|c.771T>C|p.Ala257Ala|974/26202|771/25578|257/8525||,G|synonymous_variant|LOW|NEB|NEB|transcript|NM_001164508.1|protein_coding|10/182|c.771T>C|p.Ala257Ala|974/26202|771/25578|257/8525||,G|synonymous_variant|LOW|NEB|NEB|transcript|NM_004543.4|protein_coding|10/149|c.771T>C|p.Ala257Ala|974/20598|771/19974|257/6657||;p3_1000G_AA=G|||;p3_1000G_AC=2851;p3_1000G_AF=0.569289;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=19826;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.8121;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152573981;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1416,2338;ESP6500_AA_GTC=265,886,726;ESP6500_CDS_SIZES=NM_004543.4:20010,NM_001164508.1:25578,NM_001164507.1:25578;ESP6500_CG=-7.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=123;ESP6500_EA_AC=6805,1423;ESP6500_EA_GTC=2823,1159,132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004543.4:coding-synonymous,NM_001164508.1:coding-synonymous,NM_001164507.1:coding-synonymous;ESP6500_GL=NEB;ESP6500_GRCh38_POSITION=2:151717467;ESP6500_GTC=3088,2045,858;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004543.4:c.771T>C,NM_001164508.1:c.771T>C,NM_001164507.1:c.771T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004543.4:p.(A257),NM_001164508.1:p.(A257),NM_001164507.1:p.(A257);ESP6500_MAF=17.2946,37.7198,31.3887;ESP6500_TAC=8221,3761;CLINVAR_ALLELEID=101036;CLINVAR_CLNDISDB=MedGen:C1850569,OMIM:256030|MedGen:CN169374|MedGen:CN239479|MedGen:CN517202;CLINVAR_CLNDN=Nemaline_myopathy_2|not_specified|Nemaline_Myopathy,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.151717467A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:25991;CLINVAR_GENEINFO=NEB:4703;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4611637	GT:AD:DP:GQ:PL	0/1:30,23:53:99:632,0,803
chr2	151725352	rs4300824	T	C	390.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.67;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.259;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4300824;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|6/182|c.402+101A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|6/181|c.402+101A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|6/181|c.402+101A>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|6/148|c.402+101A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3315;p3_1000G_AF=0.661941;p3_1000G_AFR_AF=0.4516;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=21674;p3_1000G_EAS_AF=0.5149;p3_1000G_EUR_AF=0.8877;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152581866;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:419,0,440
chr2	151727639	rs4664499	A	C	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.03;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=-0.178;SOR=0.048;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4664499;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001271208.1|protein_coding|5/182|c.294+52T>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164507.1|protein_coding|5/181|c.294+52T>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_001164508.1|protein_coding|5/181|c.294+52T>G||||||,C|intron_variant|MODIFIER|NEB|NEB|transcript|NM_004543.4|protein_coding|5/148|c.294+52T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3747;p3_1000G_AF=0.748203;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=19527;p3_1000G_EAS_AF=0.5774;p3_1000G_EUR_AF=0.9095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152584153;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:99,0,247
chr2	151828190	rs150910136	A	AC	190.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.38;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.041;SOR=0.527;INS;HET;VARTYPE=INS;dbSNP138_ID=rs150910136,rs60330979;dbSNPBuildID=134;ANN=AC|5_prime_UTR_variant|MODIFIER|ARL5A|ARL5A|transcript|NM_012097.3|protein_coding|1/6|c.-15dupG|||||15|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_000726.4|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330118.1|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001005747.3|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001320722.2|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330114.1|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330115.1|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330116.1|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330117.1|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001005746.3|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330113.1|protein_coding||c.*10928dupG|||||4580|,AC|downstream_gene_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001145798.2|protein_coding||c.*10928dupG|||||4580|,AC|intron_variant|MODIFIER|ARL5A|ARL5A|transcript|NM_001037174.1|protein_coding|1/5|c.-64+194dupG||||||,AC|intron_variant|MODIFIER|ARL5A|ARL5A|transcript|NM_177985.2|protein_coding|1/5|c.-66+198dupG||||||	GT:AD:DP:GQ:PL	0/1:9,10:19:99:228,0,201
chr2	151841966	rs1805028;128561	C	T	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.298;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.362;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805028;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_000726.4|protein_coding|13/14|c.1239G>A|p.Leu413Leu|1395/8067|1239/1563|413/520||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001330118.1|protein_coding|13/14|c.1098G>A|p.Leu366Leu|1419/8091|1098/1422|366/473||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001005747.3|protein_coding|12/13|c.1137G>A|p.Leu379Leu|1510/8182|1137/1461|379/486||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001320722.2|protein_coding|13/14|c.1098G>A|p.Leu366Leu|1670/8342|1098/1422|366/473||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001330114.1|protein_coding|12/13|c.585G>A|p.Leu195Leu|1650/8322|585/909|195/302||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001330115.1|protein_coding|9/10|c.948G>A|p.Leu316Leu|1321/7993|948/1272|316/423||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001330116.1|protein_coding|10/11|c.909G>A|p.Leu303Leu|1481/8153|909/1233|303/410||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001330117.1|protein_coding|14/15|c.681G>A|p.Leu227Leu|1816/8488|681/1005|227/334||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001005746.3|protein_coding|13/14|c.1185G>A|p.Leu395Leu|1425/8097|1185/1509|395/502||,T|synonymous_variant|LOW|CACNB4|CACNB4|transcript|NM_001330113.1|protein_coding|10/11|c.996G>A|p.Leu332Leu|1236/7908|996/1320|332/439||,T|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001145798.2|protein_coding|12/12|c.1117-2587G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=704;p3_1000G_AF=0.140575;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=16961;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.0537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152698480;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=281,3837;ESP6500_AA_GTC=12,257,1790;ESP6500_CDS_SIZES=NM_001145798.1:1377,NM_001005747.2:1461,NM_001005746.2:1509,NM_000726.3:1563;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=131;ESP6500_EA_AC=321,8073;ESP6500_EA_GTC=12,297,3888;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145798.1:intron,NM_001005747.2:coding-synonymous,NM_001005746.2:coding-synonymous,NM_000726.3:coding-synonymous;ESP6500_GL=CACNB4;ESP6500_GRCh38_POSITION=2:151841966;ESP6500_GTC=24,554,5678;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001145798.1:c.1117-2587G>A,NM_001005747.2:c.1137G>A,NM_001005746.2:c.1185G>A,NM_000726.3:c.1239G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001005747.2:p.(L379),NM_001005746.2:p.(L395),NM_000726.3:p.(L413);ESP6500_MAF=3.8242,6.8237,4.8114;ESP6500_TAC=602,11910;CLINVAR_AF_ESP=0.0481;CLINVAR_AF_EXAC=0.08278;CLINVAR_AF_TGP=0.1406;CLINVAR_ALLELEID=134010;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002131,MedGen:C1720189,Orphanet:ORPHA211062|MedGen:C1850778,OMIM:254770|MedGen:CN169374;CLINVAR_CLNDN=Episodic_ataxia|Juvenile_myoclonic_epilepsy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.151841966C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:70058;CLINVAR_GENEINFO=CACNB4:785;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1805028	GT:AD:DP:GQ:PL	0/1:27,22:49:99:488,0,716
chr2	151971459	rs7567588	A	G	860.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.16;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=4.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.097;SOR=1.438;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7567588;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_000726.4|protein_coding|2/13|c.148-88089T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330118.1|protein_coding|2/13|c.6+86T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001005747.3|protein_coding|1/12|c.45+2210T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001320722.2|protein_coding|2/13|c.6+86T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330114.1|protein_coding|2/12|c.-488+86T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330115.1|protein_coding|1/9|c.45+2210T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330116.1|protein_coding|2/10|c.6+86T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330117.1|protein_coding|2/14|c.-558+86T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001005746.3|protein_coding|2/13|c.94-88089T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330113.1|protein_coding|2/10|c.94-88089T>C||||||,G|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001145798.2|protein_coding|2/12|c.148-88089T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3229;p3_1000G_AF=0.644768;p3_1000G_AFR_AF=0.7927;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=18640;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152827973;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,28:60:99:889,0,780
chr2	152098471	rs34347895	G	C	313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34347895;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_000726.4|protein_coding|1/13|c.64-58C>G||||||,C|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001005746.3|protein_coding|1/13|c.10-58C>G||||||,C|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001330113.1|protein_coding|1/10|c.10-58C>G||||||,C|intron_variant|MODIFIER|CACNB4|CACNB4|transcript|NM_001145798.2|protein_coding|1/12|c.64-58C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1398;p3_1000G_AF=0.279153;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=9790;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.1074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152954985;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=320,1062;ESP6500_AA_GTC=45,230,416;ESP6500_CDS_SIZES=NM_001145798.1:1377,NM_001005746.2:1509,NM_000726.3:1563;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=10;ESP6500_EA_AC=339,2841;ESP6500_EA_GTC=27,285,1278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145798.1:intron,NM_001005746.2:intron,NM_000726.3:intron;ESP6500_GL=CACNB4;ESP6500_GRCh38_POSITION=2:152098471;ESP6500_GTC=72,515,1694;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001145798.1:c.64-58C>G,NM_001005746.2:c.10-58C>G,NM_000726.3:c.64-58C>G;ESP6500_MAF=10.6604,23.1548,14.4454;ESP6500_TAC=659,3903	GT:AD:DP:GQ:PL	1/1:0,10:10:30:342,30,0
chr2	152120395	rs1491238684;rs879219169	GAA	G	62.87	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.28;SOR=1.981;DEL;HET;VARTYPE=DEL;dbSNPBuildID=147,151;ANN=G|3_prime_UTR_variant|MODIFIER|STAM2|STAM2|transcript|NM_005843.5|protein_coding|14/14|c.*177_*178delTT|||||177|	GT:AD:DP:GQ:PL	0/1:1,4:5:15:100,0,15
chr2	152132096	rs397816774;rs5835408	C	CT	635.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.99;SOR=1.863;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5835408;dbSNPBuildID=130,138;ANN=CT|intron_variant|MODIFIER|STAM2|STAM2|transcript|NM_005843.5|protein_coding|11/13|c.1025+17dupA||||||;p3_1000G_AA=TT|T|TT|deletion;p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=17308;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.3161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152988610;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=INDEL;ESP6500_AA_AC=2513,1749;ESP6500_AA_GTC=752,1009,370;ESP6500_CDS_SIZES=NM_005843.4:1578;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=84;ESP6500_EA_AC=2599,5653;ESP6500_EA_GTC=420,1759,1947;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005843.4:intron;ESP6500_GL=STAM2;ESP6500_GRCh38_POSITION=2:152132096;ESP6500_GTC=1172,2768,2317;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005843.4:c.1025+17_1025+18insA;ESP6500_MAF=31.4954,41.0371,40.8502;ESP6500_TAC=5112,7402	GT:AD:DP:GQ:PL	1/1:0,18:18:54:673,54,0
chr2	152135401	rs3835745;rs398042761	AT	A	104.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3835745;dbSNPBuildID=107,138;ANN=A|intron_variant|MODIFIER|STAM2|STAM2|transcript|NM_005843.5|protein_coding|8/13|c.799+107delA||||||;p3_1000G_AA=TTT|TTT|TT|deletion;p3_1000G_AC=1346;p3_1000G_AF=0.26877;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=18594;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.0815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152991915;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:141,12,0
chr2	152135651	rs139474811;rs202193534;~rs72110338	C	CAATA	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.22;SOR=1.329;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs139474811;dbSNPBuildID=134,137;ANN=CAATA|intron_variant|MODIFIER|STAM2|STAM2|transcript|NM_005843.5|protein_coding|7/13|c.705-52_705-49dupTATT||||||;p3_1000G_AC=909;p3_1000G_AF=0.18151;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=17253;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.0249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=152992165;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=INDEL;ESP6500_AA_AC=119,4119;ESP6500_AA_GTC=5,109,2005;ESP6500_CDS_SIZES=NM_005843.4:1578;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=37;ESP6500_EA_AC=95,8145;ESP6500_EA_GTC=1,93,4026;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005843.4:intron;ESP6500_GL=STAM2;ESP6500_GRCh38_POSITION=2:152135651;ESP6500_GTC=6,202,6031;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005843.4:c.705-49_705-48insTATT;ESP6500_MAF=1.1529,2.8079,1.715;ESP6500_TAC=214,12264	GT:AD:DP:GQ:PL	1/1:0,6:6:18:270,18,0
chr2	152143823	rs12617139	T	A	437.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12617139;dbSNPBuildID=120;ANN=A|splice_region_variant&intron_variant|LOW|STAM2|STAM2|transcript|NM_005843.5|protein_coding|7/13|c.704+4A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3538;p3_1000G_AF=0.70647;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=15134;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153000337;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3547,855;ESP6500_AA_AGE=332.8+/-302.6;ESP6500_AA_GTC=1434,679,88;ESP6500_CDS_SIZES=NM_005843.4:1578;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=62;ESP6500_EA_AC=4376,4220;ESP6500_EA_AGE=568.1+/-388.9;ESP6500_EA_GTC=1135,2106,1057;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005843.4:intron;ESP6500_GL=STAM2;ESP6500_GRCh38_POSITION=2:152143823;ESP6500_GTC=2569,2785,1145;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_005843.4:c.704+4A>T;ESP6500_MAF=49.0926,19.423,39.0445;ESP6500_TAC=7923,5075	GT:AD:DP:GQ:PL	1/1:0,15:15:45:466,45,0
chr2	152147348	rs139467744	G	A	165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.464;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=1.26;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139467744;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|STAM2|STAM2|transcript|NM_005843.5|protein_coding|4/13|c.301-40C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=15;p3_1000G_AF=0.00299521;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17744;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153003862;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2,4356;ESP6500_AA_GTC=0,2,2177;ESP6500_CDS_SIZES=NM_005843.4:1578;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=28;ESP6500_EA_AC=0,8570;ESP6500_EA_GTC=0,0,4285;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005843.4:intron;ESP6500_GL=STAM2;ESP6500_GRCh38_POSITION=2:152147348;ESP6500_GTC=0,2,6462;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005843.4:c.301-40C>T;ESP6500_MAF=0.0,0.0459,0.0155;ESP6500_TAC=2,12926	GT:AD:DP:GQ:PL	0/1:3,8:11:56:194,0,56
chr2	152161260	rs3963509	G	A	61.28	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=29.26;QD=20.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3963509;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|STAM2|STAM2|transcript|NM_005843.5|protein_coding|1/13|c.41-11031C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3527;p3_1000G_AF=0.704273;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=16720;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.498;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153017774;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0
chr2	152521945	rs4664114	T	C	561.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4664114;dbSNPBuildID=111;ANN=C|splice_region_variant&synonymous_variant|LOW|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|2/26|c.120T>C|p.Asn40Asn|487/5575|120/3279|40/1092||,C|sequence_feature|LOW|FMNL2|FMNL2|helix:combinatorial_evidence_used_in_manual_assertion|NM_052905.3|protein_coding|2/26|c.120T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3459;p3_1000G_AF=0.690695;p3_1000G_AFR_AF=0.6377;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=18630;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.673;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153378459;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6605;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2352,1316;ESP6500_AA_GTC=748,856,230;ESP6500_CDS_SIZES=NM_052905.3:3279;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=63;ESP6500_EA_AC=5379,2769;ESP6500_EA_GTC=1785,1809,480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052905.3:coding-synonymous;ESP6500_GL=FMNL2;ESP6500_GRCh38_POSITION=2:152521945;ESP6500_GTC=2533,2665,710;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052905.3:c.120T>C;ESP6500_HGVS_PROTEIN_VAR=NM_052905.3:p.(N40);ESP6500_MAF=33.9838,35.8779,34.5718;ESP6500_TAC=7731,4085	GT:AD:DP:GQ:PL	1/1:0,19:19:57:590,57,0
chr2	152522060	rs4664592	A	G	300.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.06;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4664592;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|2/25|c.201+34A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2698;p3_1000G_AF=0.538738;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=18612;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153378574;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1535,2111;ESP6500_AA_GTC=319,897,607;ESP6500_CDS_SIZES=NM_052905.3:3279;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=48;ESP6500_EA_AC=5029,3143;ESP6500_EA_GTC=1579,1871,636;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052905.3:intron;ESP6500_GL=FMNL2;ESP6500_GRCh38_POSITION=2:152522060;ESP6500_GTC=1898,2768,1243;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052905.3:c.201+34A>G;ESP6500_MAF=38.4606,42.1009,44.4576;ESP6500_TAC=6564,5254	GT:AD:DP:GQ:PL	1/1:0,12:12:36:329,36,0
chr2	152522138	rs4664593	G	A	48.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4664593;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|2/25|c.201+112G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2697;p3_1000G_AF=0.538538;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=18678;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153378652;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:76,6,0
chr2	152558656	rs6705427	A	C	646.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.53;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6705427;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|4/25|c.360-84A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2572;p3_1000G_AF=0.513578;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=18539;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.5924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153415170;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:675,54,0
chr2	152558720	rs200953857;rs879849053;~rs66477643	T	TG	1781.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.292;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs200953857;dbSNPBuildID=149,137;ANN=TG|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|4/25|c.360-20_360-19insG||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1689;p3_1000G_AF=0.33726;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=18151;p3_1000G_EAS_AF=0.5625;p3_1000G_EUR_AF=0.3976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153415234;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=INDEL;ESP6500_AA_AC=1224,678,1618;ESP6500_AA_GTC=35,169,985,79,351,141;ESP6500_CDS_SIZES=NM_052905.3:3279,NM_052905.3:3279;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=50;ESP6500_EA_AC=1582,3010,3238;ESP6500_EA_GTC=18,510,1036,590,1320,441;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052905.3:intron,NM_052905.3:intron;ESP6500_GL=FMNL2;ESP6500_GRCh38_POSITION=2:152558720;ESP6500_GTC=53,679,2021,669,1671,582;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_052905.3:c.360-20_360-19insG,NM_052905.3:c.360-20_360-19insT;ESP6500_MAF=58.6462,54.0341,57.2159;ESP6500_TAC=2806,3688,4856	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1819,126,0
chr2	152558730	rs35066174;rs70974869	T	C	1372.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=28.6;ReadPosRankSum=-0.569;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72868279;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|4/25|c.360-10T>C||||||;p3_1000G_AC=2516;p3_1000G_AF=0.502396;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=18601;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.6193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153415244;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:2,46:48:95:1401,95,0
chr2	152558862	rs6434098	T	G	1532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=0.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6434098;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|5/25|c.443+39T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3872;p3_1000G_AF=0.773163;p3_1000G_AFR_AF=0.879;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=19521;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153415376;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6697;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3241,557;ESP6500_AA_GTC=1386,469,44;ESP6500_CDS_SIZES=NM_052905.3:3279;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=72;ESP6500_EA_AC=6301,1949;ESP6500_EA_GTC=2400,1501,224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052905.3:intron;ESP6500_GL=FMNL2;ESP6500_GRCh38_POSITION=2:152558862;ESP6500_GTC=3786,1970,268;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_052905.3:c.443+39T>G;ESP6500_MAF=23.6242,14.6656,20.8001;ESP6500_TAC=9542,2506	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1561,159,0
chr2	152560811	rs6713836	A	G	545.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.11;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6713836;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|5/25|c.444-72A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3784;p3_1000G_AF=0.755591;p3_1000G_AFR_AF=0.7632;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=16536;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.7674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153417325;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:574,48,0
chr2	152578774	rs12693407	G	A	422.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.52;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12693407;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|7/25|c.706-114G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3191;p3_1000G_AF=0.637181;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=17741;p3_1000G_EAS_AF=0.8968;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153435288;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:451,39,0
chr2	152607470	rs58236123;rs72210499	TACAC	T	415.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.7;SOR=2.985;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72210499,rs10539716,rs58236123;dbSNPBuildID=135,129;ANN=T|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|10/25|c.951+91_951+94delCACA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,9:9:99:453,136,110
chr2	152607470	.	TACAC	TAC	415.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.7;SOR=2.985;DEL;HET;VARTYPE=DEL;ANN=TAC|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|10/25|c.951+93_951+94delCA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,5:5:99:453,243,208
chr2	152611673	rs2304558	C	T	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.55;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=10.056;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.51;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304558;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|11/25|c.1062+68C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=472;p3_1000G_AF=0.0942492;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=19758;p3_1000G_EAS_AF=0.0873;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153468187;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,11:28:99:280,0,428
chr2	152616978	rs13417781	G	A	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.872;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.323;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13417781;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|12/25|c.1213-113G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1289;p3_1000G_AF=0.257388;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=21378;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153473492;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:171,0,213
chr2	152617007	rs12693415	A	C	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.08;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.619;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12693415;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|12/25|c.1213-84A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2199;p3_1000G_AF=0.439097;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=21846;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.327;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153473521;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:250,0,288
chr2	152617280	rs2304556	T	G	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.92;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.728;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304556;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|13/25|c.1314+88T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1874;p3_1000G_AF=0.374201;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=21997;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.3131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153473794;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:250,0,303
chr2	152625429	rs2346532	T	C	1765.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=1.938;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2346532;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|15/25|c.1838-9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20085;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153481943;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3762,16;ESP6500_AA_GTC=1873,16,0;ESP6500_CDS_SIZES=NM_052905.3:3279;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=8240,0;ESP6500_EA_GTC=4120,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052905.3:intron;ESP6500_GL=FMNL2;ESP6500_GRCh38_POSITION=2:152625429;ESP6500_GTC=5993,16,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052905.3:c.1838-9T>C;ESP6500_MAF=0.0,0.4235,0.1331;ESP6500_TAC=12002,16	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1794,159,0
chr2	152626743	rs7604573	T	C	492.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7604573;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|17/25|c.2165+16T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2743;p3_1000G_AF=0.547724;p3_1000G_AFR_AF=0.5076;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=19466;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153483257;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1858,1770;ESP6500_AA_GTC=481,896,437;ESP6500_CDS_SIZES=NM_052905.3:3279;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=43;ESP6500_EA_AC=3685,4461;ESP6500_EA_GTC=839,2007,1227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052905.3:intron;ESP6500_GL=FMNL2;ESP6500_GRCh38_POSITION=2:152626743;ESP6500_GTC=1320,2903,1664;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052905.3:c.2165+16T>C;ESP6500_MAF=45.2369,48.7872,47.0783;ESP6500_TAC=5543,6231	GT:AD:DP:GQ:PL	1/1:0,14:14:42:521,42,0
chr2	152628171	rs3811570	G	A	60.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.28;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811570;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|17/25|c.2166-128G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2668;p3_1000G_AF=0.532748;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=21360;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153484685;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:89:89,0,91
chr2	152636396	rs1561267	G	T	662.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1561267;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|FMNL2|FMNL2|transcript|NM_052905.3|protein_coding|21/25|c.2681-31G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4139;p3_1000G_AF=0.826478;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=19710;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.8946;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153492910;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8732;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2845,1015;ESP6500_AA_GTC=1049,747,134;ESP6500_CDS_SIZES=NM_052905.3:3279;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=38;ESP6500_EA_AC=7439,827;ESP6500_EA_GTC=3350,739,44;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052905.3:intron;ESP6500_GL=FMNL2;ESP6500_GRCh38_POSITION=2:152636396;ESP6500_GTC=4399,1486,178;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_052905.3:c.2681-31G>T;ESP6500_MAF=10.0048,26.2953,15.1905;ESP6500_TAC=10284,1842	GT:AD:DP:GQ:PL	1/1:0,21:21:63:691,63,0
chr2	152658069	rs6713779	G	C	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.77;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=1.46;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6713779;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|24/25|c.2569-49C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4004;p3_1000G_AF=0.799521;p3_1000G_AFR_AF=0.8064;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=18380;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.8201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153514583;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2974,640;ESP6500_AA_GTC=1227,520,60;ESP6500_CDS_SIZES=NM_017892.3:2793;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=45;ESP6500_EA_AC=6665,1477;ESP6500_EA_GTC=2726,1213,132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017892.3:intron;ESP6500_GL=PRPF40A;ESP6500_GRCh38_POSITION=2:152658069;ESP6500_GTC=3953,1733,192;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017892.3:c.2569-49C>G;ESP6500_MAF=18.1405,17.7089,18.0078;ESP6500_TAC=9639,2117	GT:AD:DP:GQ:PL	0/1:10,11:21:99:371,0,267
chr2	152663010	rs1036526	A	G	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.876;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.21;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1036526;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|20/25|c.2226+25T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3835;p3_1000G_AF=0.765775;p3_1000G_AFR_AF=0.6831;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=12656;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.8191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153519524;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2583,1005;ESP6500_AA_GTC=930,723,141;ESP6500_CDS_SIZES=NM_017892.3:2793;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=76;ESP6500_EA_AC=6640,1480;ESP6500_EA_GTC=2712,1216,132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017892.3:intron;ESP6500_GL=PRPF40A;ESP6500_GRCh38_POSITION=2:152663010;ESP6500_GTC=3642,1939,273;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017892.3:c.2226+25T>C;ESP6500_MAF=18.2266,28.01,21.2248;ESP6500_TAC=9223,2485	GT:AD:DP:GQ:PL	0/1:4,5:9:95:154,0,95
chr2	152664268	rs3762507	A	G	262.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.65;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.53;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=1.2;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762507;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|16/25|c.1765-16T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3836;p3_1000G_AF=0.765974;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=18243;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.8191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153520782;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2614,990;ESP6500_AA_GTC=949,716,137;ESP6500_CDS_SIZES=NM_017892.3:2793;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=42;ESP6500_EA_AC=6659,1477;ESP6500_EA_GTC=2721,1217,130;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017892.3:intron;ESP6500_GL=PRPF40A;ESP6500_GRCh38_POSITION=2:152664268;ESP6500_GTC=3670,1933,267;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017892.3:c.1765-16T>C;ESP6500_MAF=18.1539,27.4695,21.0136;ESP6500_TAC=9273,2467	GT:AD:DP:GQ:PL	0/1:16,10:26:99:291,0,417
chr2	152664305	rs3762506	C	A	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.23;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762506;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|16/25|c.1765-53G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4176;p3_1000G_AF=0.833866;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=17855;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153520819;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:206,0,150
chr2	152670503	rs2118377	C	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.131;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.175;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2118377;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|14/25|c.1480-122G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4174;p3_1000G_AF=0.833466;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=19297;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.8211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153527017;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:178,0,150
chr2	152672847	rs2304559	T	C	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=1.24;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304559;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|12/25|c.1205+131A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3840;p3_1000G_AF=0.766773;p3_1000G_AFR_AF=0.6884;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=13889;p3_1000G_EAS_AF=0.7341;p3_1000G_EUR_AF=0.8191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153529361;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:181,0,122
chr2	152676746	rs11544718	G	A	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.082;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.566;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11544718;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|10/26|c.690C>T|p.Ala230Ala|712/7528|690/2793|230/930||;p3_1000G_AA=G|||;p3_1000G_AC=773;p3_1000G_AF=0.154353;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=18533;p3_1000G_EAS_AF=0.2659;p3_1000G_EUR_AF=0.1789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153533260;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=134,2936;ESP6500_AA_GTC=1,132,1402;ESP6500_CDS_SIZES=NM_017892.3:2793;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=119;ESP6500_EA_AC=975,5029;ESP6500_EA_GTC=74,827,2101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017892.3:coding-synonymous;ESP6500_GL=PRPF40A;ESP6500_GRCh38_POSITION=2:152676746;ESP6500_GTC=75,959,3503;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017892.3:c.690C>T;ESP6500_HGVS_PROTEIN_VAR=NM_017892.3:p.(A230);ESP6500_MAF=16.2392,4.3648,12.2217;ESP6500_TAC=1109,7965	GT:AD:DP:GQ:PL	0/1:20,17:37:99:474,0,560
chr2	152677625	rs1437676	G	A	134.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1437676;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|8/25|c.632-150C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16239;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153534139;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:163,15,0
chr2	152679156	rs10166987	C	T	192.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.1;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10166987;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|7/25|c.578-47G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5001;p3_1000G_AF=0.998602;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=14182;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153535670;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3470,14;ESP6500_AA_GTC=1728,14,0;ESP6500_CDS_SIZES=NM_017892.3:2793;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=17;ESP6500_EA_AC=7932,0;ESP6500_EA_GTC=3966,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017892.3:intron;ESP6500_GL=PRPF40A;ESP6500_GRCh38_POSITION=2:152679156;ESP6500_GTC=5694,14,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017892.3:c.578-47G>A;ESP6500_MAF=0.0,0.4018,0.1226;ESP6500_TAC=11402,14	GT:AD:DP:GQ:PL	1/1:0,8:8:24:221,24,0
chr2	152715924	rs2346548	C	T	435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2346548;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NM_152522.5|protein_coding||c.-2701C>T|||||1969|,T|upstream_gene_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NR_024526.2|pseudogene||n.-1969C>T|||||1969|,T|intron_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding|2/25|c.216+71G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17209;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153572438;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:464,39,0
chr2	152719312	rs3748939	G	C	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.96;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.319;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748939;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding||c.-1873C>G|||||1851|,C|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NM_152522.5|protein_coding|1/3|c.400+288G>C||||||,C|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NR_024526.2|pseudogene|1/3|n.104-1221G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4021;p3_1000G_AF=0.802915;p3_1000G_AFR_AF=0.8109;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=17379;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.8231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153575826;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,10:25:99:312,0,389
chr2	152719458	rs3748938	A	G	810.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.775;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=0.085;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748938;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding||c.-2019T>C|||||1997|,G|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NM_152522.5|protein_coding|1/3|c.400+434A>G||||||,G|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NR_024526.2|pseudogene|1/3|n.104-1075A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3069;p3_1000G_AF=0.612819;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=14684;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153575972;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,33:53:99:839,0,416
chr2	152719492	rs3748937	T	C	802.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.348;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.45;ReadPosRankSum=1.4;SOR=0.533;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748937;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding||c.-2053A>G|||||2031|,C|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NM_152522.5|protein_coding|1/3|c.400+468T>C||||||,C|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NR_024526.2|pseudogene|1/3|n.104-1041T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3095;p3_1000G_AF=0.618011;p3_1000G_AFR_AF=0.5265;p3_1000G_AMR_AF=0.634;p3_1000G_AN=5008;p3_1000G_DP=14133;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153576006;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,31:46:99:831,0,314
chr2	152720034	.	G	GTCAGTCTTAAATGATTGGCTGCCAATGTTTCATTTCTTTATCATTCCCCTCCCCCCTTTTTTACCCTTTTTTGAATGTGCATGGAATGTAAATTA	232.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=5.727;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-3.244;SOR=2.409;INS;HET;VARTYPE=INS;ANN=GTCAGTCTTAAATGATTGGCTGCCAATGTTTCATTTCTTTATCATTCCCCTCCCCCCTTTTTTACCCTTTTTTGAATGTGCATGGAATGTAAATTA|upstream_gene_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding||c.-2596_-2595insTAATTTACATTCCATGCACATTCAAAAAAGGGTAAAAAAGGGGGGAGGGGAATGATAAAGAAATGAAACATTGGCAGCCAATCATTTAAGACTGA|||||2574|,GTCAGTCTTAAATGATTGGCTGCCAATGTTTCATTTCTTTATCATTCCCCTCCCCCCTTTTTTACCCTTTTTTGAATGTGCATGGAATGTAAATTA|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NM_152522.5|protein_coding|1/3|c.401-464_401-463insCTTTATCATTCCCCTCCCCCCTTTTTTACCCTTTTTTGAATGTGCATGGAATGTAAATTATCAGTCTTAAATGATTGGCTGCCAATGTTTCATTT||||||INFO_REALIGN_3_PRIME,GTCAGTCTTAAATGATTGGCTGCCAATGTTTCATTTCTTTATCATTCCCCTCCCCCCTTTTTTACCCTTTTTTGAATGTGCATGGAATGTAAATTA|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NR_024526.2|pseudogene|1/3|n.104-464_104-463insCTTTATCATTCCCCTCCCCCCTTTTTTACCCTTTTTTGAATGTGCATGGAATGTAAATTATCAGTCTTAAATGATTGGCTGCCAATGTTTCATTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:14,6:20:99:270,0,618
chr2	152720499	rs9646744	G	A	510.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.145;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-0.135;SOR=1.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9646744;dbSNPBuildID=119;ANN=A|upstream_gene_variant|MODIFIER|PRPF40A|PRPF40A|transcript|NM_017892.3|protein_coding||c.-3060C>T|||||3038|,A|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NM_152522.5|protein_coding|1/3|c.401-34G>A||||||,A|intron_variant|MODIFIER|ARL6IP6|ARL6IP6|transcript|NR_024526.2|pseudogene|1/3|n.104-34G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4021;p3_1000G_AF=0.802915;p3_1000G_AFR_AF=0.8109;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=19922;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.8221;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=153577013;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7751;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3650,756;ESP6500_AA_AGE=307.5+/-290.0;ESP6500_AA_GTC=1512,626,65;ESP6500_CDS_SIZES=NM_152522.5:681;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=128;ESP6500_EA_AC=7050,1550;ESP6500_EA_AGE=291.2+/-300.2;ESP6500_EA_GTC=2890,1270,140;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152522.5:intron;ESP6500_GL=ARL6IP6;ESP6500_GRCh38_POSITION=2:152720499;ESP6500_GTC=4402,1896,205;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152522.5:c.401-34G>A;ESP6500_MAF=18.0233,17.1584,17.7303;ESP6500_TAC=10700,2306	GT:AD:DP:GQ:PL	0/1:10,19:29:99:539,0,230
chr2	153944486	rs1401518	T	C	1098.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=2.075;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-1.118;SOR=1.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1401518;dbSNPBuildID=88;ANN=C|5_prime_UTR_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_001301627.1|protein_coding|1/12|c.-12T>C|||||12|,C|5_prime_UTR_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_052917.3|protein_coding|3/13|c.-12T>C|||||12|;p3_1000G_AA=T|||;p3_1000G_AC=1717;p3_1000G_AF=0.342851;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=18773;p3_1000G_EAS_AF=0.745;p3_1000G_EUR_AF=0.0606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154800999;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1514,2892;ESP6500_AA_AGE=480.8+/-358.9;ESP6500_AA_GTC=280,954,969;ESP6500_CDS_SIZES=NM_052917.2:1671;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=170;ESP6500_EA_AC=559,8041;ESP6500_EA_AGE=152.7+/-207.2;ESP6500_EA_GTC=22,515,3763;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052917.2:utr-5;ESP6500_GL=GALNT13;ESP6500_GRCh38_POSITION=2:153944486;ESP6500_GTC=302,1469,4732;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052917.2:c.-12T>C;ESP6500_MAF=6.5,34.3622,15.9388;ESP6500_TAC=2073,10933	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1127,0,717
chr2	153944683	rs72865049	A	G	408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=4.781;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.714;SOR=0.153;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72865049;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_001301627.1|protein_coding|1/11|c.142+44A>G||||||,G|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_052917.3|protein_coding|3/12|c.142+44A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=365;p3_1000G_AF=0.0728834;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=20952;p3_1000G_EAS_AF=0.0833;p3_1000G_EUR_AF=0.0765;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=154801196;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=209,4197;ESP6500_AA_AGE=123.3+/-160.7;ESP6500_AA_GTC=8,193,2002;ESP6500_CDS_SIZES=NM_052917.2:1671;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=81;ESP6500_EA_AC=812,7788;ESP6500_EA_AGE=180.0+/-229.1;ESP6500_EA_GTC=35,742,3523;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052917.2:intron;ESP6500_GL=GALNT13;ESP6500_GRCh38_POSITION=2:153944683;ESP6500_GTC=43,935,5525;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052917.2:c.142+44A>G;ESP6500_MAF=9.4419,4.7435,7.8502;ESP6500_TAC=1021,11985	GT:AD:DP:GQ:PL	0/1:16,15:31:99:437,0,467
chr2	154242577	rs10166119	G	A	245.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10166119;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_001301627.1|protein_coding|3/11|c.479-121G>A||||||,A|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_052917.3|protein_coding|5/12|c.479-121G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3957;p3_1000G_AF=0.790136;p3_1000G_AFR_AF=0.7216;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=15466;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.7296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155099090;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:274,21,0
chr2	154242633	rs9288324	G	A	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.373;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=0.574;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9288324;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_001301627.1|protein_coding|3/11|c.479-65G>A||||||,A|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_052917.3|protein_coding|5/12|c.479-65G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=704;p3_1000G_AF=0.140575;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=16102;p3_1000G_EAS_AF=0.0675;p3_1000G_EUR_AF=0.1451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155099146;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:120,0,269
chr2	154409111	rs1405936	G	A	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.67;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1405936;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_001301627.1|protein_coding|9/11|c.1395+29G>A||||||,A|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_052917.3|protein_coding|11/12|c.1395+29G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3002;p3_1000G_AF=0.599441;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=16424;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.6272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155265623;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2155,2249;ESP6500_AA_AGE=592.3+/-387.8;ESP6500_AA_GTC=541,1073,588;ESP6500_CDS_SIZES=NM_052917.2:1671;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=72;ESP6500_EA_AC=5342,3258;ESP6500_EA_AGE=487.3+/-372.1;ESP6500_EA_GTC=1672,1998,630;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052917.2:intron;ESP6500_GL=GALNT13;ESP6500_GRCh38_POSITION=2:154409111;ESP6500_GTC=2213,3071,1218;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052917.2:c.1395+29G>A;ESP6500_MAF=37.8837,48.9328,42.3485;ESP6500_TAC=7497,5507	GT:AD:DP:GQ:PL	1/1:0,19:19:57:535,57,0
chr2	154438623	rs148805770	G	A	684.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.167;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=7.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.939;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148805770;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|GALNT13|GALNT13|transcript|NM_001301627.1|protein_coding|10/12|c.1427G>A|p.Arg476Gln|1531/5369|1427/1686|476/561||,A|missense_variant|MODERATE|GALNT13|GALNT13|transcript|NM_052917.3|protein_coding|12/13|c.1427G>A|p.Arg476Gln|2009/5679|1427/1671|476/556||,A|intron_variant|MODIFIER|LOC100144595|LOC100144595|transcript|NM_001256368.1|protein_coding|4/4|c.50-773C>T||||||;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_052917.2:1671,NM_001256368.1:309;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=120;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052917.2:missense,NM_001256368.1:intron;ESP6500_GL=GALNT13,LOC100144595;ESP6500_GRCh38_POSITION=2:154438623;ESP6500_GS=43,.;ESP6500_GTC=0,1,6502;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052917.2:c.1427G>A,NM_001256368.1:c.50-773C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052917.2:p.(R476Q),.;ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_PH=probably-damaging:0.999,.;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:26,30:56:99:713,0,691
chr2	154450373	rs697648	C	T	607.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs697648;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_001301627.1|protein_coding|11/11|c.*13-38C>T||||||,T|intron_variant|MODIFIER|LOC100144595|LOC100144595|transcript|NM_001256368.1|protein_coding|3/4|c.-30+4165G>A||||||,T|intron_variant|MODIFIER|GALNT13|GALNT13|transcript|NM_052917.3|protein_coding|12/12|c.1531-38C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4919;p3_1000G_AF=0.982228;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18419;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=155306885;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4095,311;ESP6500_AA_AGE=164.0+/-195.7;ESP6500_AA_GTC=1907,281,15;ESP6500_CDS_SIZES=NM_052917.2:1671,NM_001256368.1:309;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=62;ESP6500_EA_AC=8595,3;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4296,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052917.2:intron,NM_001256368.1:intron;ESP6500_GL=GALNT13,LOC100144595;ESP6500_GRCh38_POSITION=2:154450373;ESP6500_GTC=6203,284,15;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052917.2:c.1531-38C>T,NM_001256368.1:c.-4517G>A;ESP6500_MAF=0.0349,7.0586,2.4146;ESP6500_TAC=12690,314	GT:AD:DP:GQ:PL	1/1:0,19:19:57:636,57,0
chr2	156326699	rs35479735;rs397746252;rs398080746	TC	T	1246.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.63;SOR=1.371;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35479735;dbSNPBuildID=132,138,138;ANN=T|intron_variant|MODIFIER|NR4A2|NR4A2|transcript|NM_006186.3|protein_coding|6/7|c.1361+18delG||||||;p3_1000G_AA=CC|CCC|CC|insertion;p3_1000G_AC=3521;p3_1000G_AF=0.703075;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=17406;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.7863;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157183211;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=INDEL;ESP6500_AA_AC=3815,451;ESP6500_AA_GTC=1703,409,21;ESP6500_CDS_SIZES=NM_006186.3:1797;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=128;ESP6500_EA_AC=6484,1770;ESP6500_EA_GTC=2560,1364,203;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006186.3:intron;ESP6500_GL=NR4A2;ESP6500_GRCh38_POSITION=2:156326699;ESP6500_GTC=4263,1773,224;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006186.3:c.1361+18del1;ESP6500_MAF=21.4441,10.572,17.7396;ESP6500_TAC=10299,2221	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1284,108,0
chr2	156549737	rs2116665	G	A	3273.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=0.995;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2116665;dbSNPBuildID=96;ANN=A|missense_variant|MODERATE|GPD2|GPD2|transcript|NM_000408.4|protein_coding|7/17|c.791G>A|p.Arg264His|925/5803|791/2184|264/727||,A|missense_variant|MODERATE|GPD2|GPD2|transcript|NM_001083112.2|protein_coding|7/17|c.791G>A|p.Arg264His|1151/6029|791/2184|264/727||;p3_1000G_AA=G|||;p3_1000G_AC=3295;p3_1000G_AF=0.657947;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=19139;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.6889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157406249;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2093,2313;ESP6500_AA_AGE=572.1+/-383.2;ESP6500_AA_GTC=503,1087,613;ESP6500_CDS_SIZES=NM_001083112.2:2184,NM_000408.4:2184;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=64;ESP6500_EA_AC=6102,2498;ESP6500_EA_AGE=694.7+/-404.8;ESP6500_EA_GTC=2144,1814,342;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001083112.2:missense,NM_000408.4:missense;ESP6500_GL=GPD2;ESP6500_GRCh38_POSITION=2:156549737;ESP6500_GS=29,29;ESP6500_GTC=2647,2901,955;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001083112.2:c.791G>A,NM_000408.4:c.791G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001083112.2:p.(R264H),NM_000408.4:p.(R264H);ESP6500_MAF=29.0465,47.5034,36.9906;ESP6500_PH=benign:0.02,benign:0.02;ESP6500_TAC=8195,4811	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3302,332,0
chr2	156549784	rs2116664	A	C	2830.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=1.338;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2116664;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_000408.4|protein_coding|7/16|c.826+12A>C||||||,C|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_001083112.2|protein_coding|7/16|c.826+12A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3632;p3_1000G_AF=0.72524;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=18818;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.7048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157406296;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3044,1362;ESP6500_AA_AGE=449.0+/-348.9;ESP6500_AA_GTC=1065,914,224;ESP6500_CDS_SIZES=NM_001083112.2:2184,NM_000408.4:2184;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=32;ESP6500_EA_AC=6212,2388;ESP6500_EA_AGE=392.2+/-343.9;ESP6500_EA_GTC=2221,1770,309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001083112.2:intron,NM_000408.4:intron;ESP6500_GL=GPD2;ESP6500_GRCh38_POSITION=2:156549784;ESP6500_GTC=3286,2684,533;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001083112.2:c.826+12A>C,NM_000408.4:c.826+12A>C;ESP6500_MAF=27.7674,30.9124,28.8328;ESP6500_TAC=9256,3750	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2859,267,0
chr2	156568990	rs36082652;rs397804575;rs562966174;rs200733092	C	CT	133.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.75;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs36082652;dbSNPBuildID=142,137,138;ANN=CT|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_000408.4|protein_coding|10/16|c.1300+47dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_001083112.2|protein_coding|10/16|c.1300+47dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=375;p3_1000G_AF=0.0748802;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=22730;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.0885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157425502;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:116,15,0
chr2	156571081	rs1469652	T	C	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1469652;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_000408.4|protein_coding|12/16|c.1609-53T>C||||||,C|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_001083112.2|protein_coding|12/16|c.1609-53T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4918;p3_1000G_AF=0.982029;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18717;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157427593;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:513,48,0
chr2	156571325	rs1469651	C	A	97.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1469651;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_000408.4|protein_coding|13/16|c.1767+33C>A||||||,A|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_001083112.2|protein_coding|13/16|c.1767+33C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3447;p3_1000G_AF=0.688299;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=17407;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.7028;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157427837;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2423,1983;ESP6500_AA_AGE=616.2+/-392.7;ESP6500_AA_GTC=668,1087,448;ESP6500_CDS_SIZES=NM_001083112.2:2184,NM_000408.4:2184;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=71;ESP6500_EA_AC=6205,2395;ESP6500_EA_AGE=699.8+/-405.1;ESP6500_EA_GTC=2216,1773,311;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001083112.2:intron,NM_000408.4:intron;ESP6500_GL=GPD2;ESP6500_GRCh38_POSITION=2:156571325;ESP6500_GTC=2884,2860,759;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001083112.2:c.1767+33C>A,NM_000408.4:c.1767+33C>A;ESP6500_MAF=27.8488,45.0068,33.6614;ESP6500_TAC=8628,4378	GT:AD:DP:GQ:PL	1/1:0,4:4:12:125,12,0
chr2	156571338	rs1469650	G	A	91.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1469650;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_000408.4|protein_coding|13/16|c.1767+46G>A||||||,A|intron_variant|MODIFIER|GPD2|GPD2|transcript|NM_001083112.2|protein_coding|13/16|c.1767+46G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3447;p3_1000G_AF=0.688299;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=17748;p3_1000G_EAS_AF=0.7927;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157427850;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2423,1983;ESP6500_AA_AGE=614.2+/-392.3;ESP6500_AA_GTC=668,1087,448;ESP6500_CDS_SIZES=NM_001083112.2:2184,NM_000408.4:2184;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=57;ESP6500_EA_AC=6205,2395;ESP6500_EA_AGE=698.5+/-405.0;ESP6500_EA_GTC=2216,1773,311;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001083112.2:intron,NM_000408.4:intron;ESP6500_GL=GPD2;ESP6500_GRCh38_POSITION=2:156571338;ESP6500_GTC=2884,2860,759;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001083112.2:c.1767+46G>A,NM_000408.4:c.1767+46G>A;ESP6500_MAF=27.8488,45.0068,33.6614;ESP6500_TAC=8628,4378	GT:AD:DP:GQ:PL	1/1:0,3:3:9:119,9,0
chr2	156610594	rs11894134	T	C	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.55;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.935;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11894134;dbSNPBuildID=120;ANN=C|intergenic_region|MODIFIER|GPD2-GALNT5|GPD2-GALNT5|intergenic_region|GPD2-GALNT5|||n.156610594T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1237;p3_1000G_AF=0.247005;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=16767;p3_1000G_EAS_AF=0.1716;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=157467106;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3027;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:323,0,315
chr2	157284205	rs2289942	C	T	461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.109;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.447;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289942;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|GALNT5|GALNT5|transcript|NM_014568.2|protein_coding|1/9|c.1455-77C>T||||||,T|intron_variant|MODIFIER|GALNT5|GALNT5|transcript|NM_001329868.1|protein_coding|2/10|c.45-77C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1402;p3_1000G_AF=0.279952;p3_1000G_AFR_AF=0.3245;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=22359;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.17;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158140717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,18:37:99:490,0,620
chr2	157295534	rs397986399;rs557827561;rs57727429	GA	G	227.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.77;SOR=4.804;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57727429;dbSNPBuildID=134,142,138;ANN=G|intron_variant|MODIFIER|GALNT5|GALNT5|transcript|NM_014568.2|protein_coding|3/9|c.1742-116delA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|GALNT5|GALNT5|transcript|NM_001329868.1|protein_coding|4/10|c.332-116delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,10:10:30:265,30,0
chr2	157300849	rs3214040	C	T	1091.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3214040;dbSNPBuildID=106;ANN=T|synonymous_variant|LOW|GALNT5|GALNT5|transcript|NM_014568.2|protein_coding|7/10|c.2289C>T|p.His763His|2774/10449|2289/2823|763/940||,T|synonymous_variant|LOW|GALNT5|GALNT5|transcript|NM_001329868.1|protein_coding|8/11|c.879C>T|p.His293His|2855/10530|879/1413|293/470||;p3_1000G_AA=T|||;p3_1000G_AC=4001;p3_1000G_AF=0.798922;p3_1000G_AFR_AF=0.5734;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=16936;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.9264;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158157361;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2769,1637;ESP6500_AA_AGE=503.5+/-365.6;ESP6500_AA_GTC=876,1017,310;ESP6500_CDS_SIZES=NM_014568.1:2823;ESP6500_CG=-10.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=115;ESP6500_EA_AC=7921,679;ESP6500_EA_AGE=170.6+/-221.7;ESP6500_EA_GTC=3649,623,28;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014568.1:coding-synonymous;ESP6500_GL=GALNT5;ESP6500_GRCh38_POSITION=2:157300849;ESP6500_GTC=4525,1640,338;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014568.1:c.2289C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014568.1:p.(H763);ESP6500_MAF=7.8953,37.1539,17.8072;ESP6500_TAC=10690,2316	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1120,102,0
chr2	157308492	rs6728956	C	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.638;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.728;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6728956;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|GALNT5|GALNT5|transcript|NM_014568.2|protein_coding|8/9|c.2521-75C>T||||||,T|intron_variant|MODIFIER|GALNT5|GALNT5|transcript|NM_001329868.1|protein_coding|9/10|c.1111-75C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3891;p3_1000G_AF=0.776957;p3_1000G_AFR_AF=0.5635;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=18599;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.9274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158165004;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:97:178,0,97
chr2	157324272	rs769697607	CA	C	158.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.628;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.119;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.29;ReadPosRankSum=-0.565;SOR=0.507;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|ERMN|ERMN|transcript|NM_001009959.2|protein_coding|3/3|c.373+397delT||||||,C|intron_variant|MODIFIER|ERMN|ERMN|transcript|NM_001304346.1|protein_coding|2/2|c.274+397delT||||||,C|intron_variant|MODIFIER|ERMN|ERMN|transcript|NM_020711.2|protein_coding|2/2|c.334+397delT||||||,C|intron_variant|MODIFIER|ERMN|ERMN|transcript|NM_001304344.1|protein_coding|3/3|c.334+397delT||||||,C|intron_variant|MODIFIER|ERMN|ERMN|transcript|NM_001304345.1|protein_coding|3/3|c.334+397delT||||||	GT:AD:DP:GQ:PL	0/1:25,12:37:99:196,0,536
chr2	157427198	rs155614	A	G	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=1.09;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs155614;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|CYTIP|CYTIP|transcript|NM_004288.4|protein_coding|6/7|c.546+153T>C||||||	GT:AD:DP:GQ:PL	0/1:5,4:9:99:144,0,181
chr2	157434541	rs7588323	G	A	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.205;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.525;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7588323;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CYTIP|CYTIP|transcript|NM_004288.4|protein_coding|2/7|c.225-117C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=545;p3_1000G_AF=0.108826;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=14994;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158291053;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:127,0,147
chr2	157434595	rs70987792	T	TAG	13.91	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=-0.431;SOR=2.303;INS;HET;VARTYPE=INS;dbSNP138_ID=rs70987792;dbSNPBuildID=130;ANN=TAG|intron_variant|MODIFIER|CYTIP|CYTIP|transcript|NM_004288.4|protein_coding|2/7|c.224+101_224+102dupCT||||||	GT:AD:DP:GQ:PL	0/1:4,2:6:51:51,0,107
chr2	157434676	rs11904180	A	C	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.094;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.44;SOR=0.477;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11904180;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CYTIP|CYTIP|transcript|NM_004288.4|protein_coding|2/7|c.224+22T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4087;p3_1000G_AF=0.816094;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.8271;p3_1000G_AN=5008;p3_1000G_DP=14986;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.9105;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158291188;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3190,1214;ESP6500_AA_AGE=681.8+/-404.0;ESP6500_AA_GTC=1164,862,176;ESP6500_CDS_SIZES=NM_004288.4:1080;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=58;ESP6500_EA_AC=7632,968;ESP6500_EA_AGE=763.7+/-407.6;ESP6500_EA_GTC=3398,836,66;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004288.4:intron;ESP6500_GL=CYTIP;ESP6500_GRCh38_POSITION=2:157434676;ESP6500_GTC=4562,1698,242;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_004288.4:c.224+22T>G;ESP6500_MAF=11.2558,27.5658,16.7795;ESP6500_TAC=10822,2182	GT:AD:DP:GQ:PL	0/1:4,11:15:89:198,0,89
chr2	157538567	rs7576514	C	G	680.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs369188911,rs7576514;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|ACVR1C|ACVR1C|transcript|NM_145259.2|protein_coding|8/8|c.1356+6G>C||||||,G|splice_region_variant&intron_variant|LOW|ACVR1C|ACVR1C|transcript|NM_001111031.1|protein_coding|8/8|c.1206+6G>C||||||,G|splice_region_variant&intron_variant|LOW|ACVR1C|ACVR1C|transcript|NM_001111032.1|protein_coding|7/7|c.1116+6G>C||||||,G|splice_region_variant&intron_variant|LOW|ACVR1C|ACVR1C|transcript|NM_001111033.1|protein_coding|6/6|c.885+6G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4230;p3_1000G_AF=0.844649;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=14719;p3_1000G_EAS_AF=0.9296;p3_1000G_EUR_AF=0.8897;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158395079;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3493,913;ESP6500_AA_AGE=735.3+/-410.7;ESP6500_AA_GTC=1382,729,92;ESP6500_CDS_SIZES=NM_145259.2:1482,NM_001111033.1:1011,NM_001111032.1:1242,NM_001111031.1:1332;ESP6500_CG=2.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=91;ESP6500_EA_AC=7566,1034;ESP6500_EA_AGE=769.5+/-407.6;ESP6500_EA_GTC=3339,888,73;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145259.2:intron,NM_001111033.1:intron,NM_001111032.1:intron,NM_001111031.1:intron;ESP6500_GL=ACVR1C;ESP6500_GRCh38_POSITION=2:157538567;ESP6500_GTC=4721,1617,165;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_145259.2:c.1356+6G>C,NM_001111033.1:c.885+6G>C,NM_001111032.1:c.1116+6G>C,NM_001111031.1:c.1206+6G>C;ESP6500_MAF=12.0233,20.7217,14.97;ESP6500_TAC=11059,1947	GT:AD:DP:GQ:PL	1/1:0,20:20:60:709,60,0
chr2	157542998	rs4254465	T	A	310.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4254465;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_145259.2|protein_coding|5/8|c.944-136A>T||||||,A|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111031.1|protein_coding|5/8|c.794-136A>T||||||,A|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111032.1|protein_coding|4/7|c.704-136A>T||||||,A|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111033.1|protein_coding|3/6|c.473-136A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3613;p3_1000G_AF=0.721446;p3_1000G_AFR_AF=0.4576;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=18872;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.8141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158399510;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:339,24,0
chr2	157544396	rs6728987	C	T	178.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6728987;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_145259.2|protein_coding|5/8|c.943+49G>A||||||,T|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111031.1|protein_coding|5/8|c.793+49G>A||||||,T|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111032.1|protein_coding|4/7|c.703+49G>A||||||,T|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111033.1|protein_coding|3/6|c.472+49G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3929;p3_1000G_AF=0.784545;p3_1000G_AFR_AF=0.677;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=14987;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.8241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158400908;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2995,1411;ESP6500_AA_AGE=423.4+/-340.1;ESP6500_AA_GTC=1037,921,245;ESP6500_CDS_SIZES=NM_145259.2:1482,NM_001111033.1:1011,NM_001111032.1:1242,NM_001111031.1:1332;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=30;ESP6500_EA_AC=6953,1647;ESP6500_EA_AGE=292.7+/-301.0;ESP6500_EA_GTC=2828,1297,175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145259.2:intron,NM_001111033.1:intron,NM_001111032.1:intron,NM_001111031.1:intron;ESP6500_GL=ACVR1C;ESP6500_GRCh38_POSITION=2:157544396;ESP6500_GTC=3865,2218,420;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145259.2:c.943+49G>A,NM_001111033.1:c.472+49G>A,NM_001111032.1:c.703+49G>A,NM_001111031.1:c.793+49G>A;ESP6500_MAF=19.1512,32.0245,23.5122;ESP6500_TAC=9948,3058	GT:AD:DP:GQ:PL	1/1:0,6:6:18:207,18,0
chr2	157544625	rs10432556	T	C	709.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10432556;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_145259.2|protein_coding|4/8|c.776-13A>G||||||,C|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111031.1|protein_coding|4/8|c.626-13A>G||||||,C|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111032.1|protein_coding|3/7|c.536-13A>G||||||,C|intron_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111033.1|protein_coding|2/6|c.305-13A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3636;p3_1000G_AF=0.726038;p3_1000G_AFR_AF=0.4637;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=17343;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.8231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158401137;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2213,2193;ESP6500_AA_AGE=581.7+/-385.4;ESP6500_AA_GTC=563,1087,553;ESP6500_CDS_SIZES=NM_145259.2:1482,NM_001111033.1:1011,NM_001111032.1:1242,NM_001111031.1:1332;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=47;ESP6500_EA_AC=6953,1647;ESP6500_EA_AGE=737.4+/-407.0;ESP6500_EA_GTC=2828,1297,175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145259.2:intron,NM_001111033.1:intron,NM_001111032.1:intron,NM_001111031.1:intron;ESP6500_GL=ACVR1C;ESP6500_GRCh38_POSITION=2:157544625;ESP6500_GTC=3391,2384,728;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145259.2:c.776-13A>G,NM_001111033.1:c.305-13A>G,NM_001111032.1:c.536-13A>G,NM_001111031.1:c.626-13A>G;ESP6500_MAF=19.1512,49.773,29.5248;ESP6500_TAC=9166,3840	GT:AD:DP:GQ:PL	1/1:0,24:24:72:738,72,0
chr2	157587377	rs4556933	G	A	1390.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4556933;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|ACVR1C|ACVR1C|transcript|NM_145259.2|protein_coding|2/9|c.114C>T|p.Phe38Phe|357/8876|114/1482|38/493||,A|synonymous_variant|LOW|ACVR1C|ACVR1C|transcript|NM_001111032.1|protein_coding|2/8|c.114C>T|p.Phe38Phe|357/8636|114/1242|38/413||,A|synonymous_variant|LOW|ACVR1C|ACVR1C|transcript|NM_001111033.1|protein_coding|2/7|c.114C>T|p.Phe38Phe|357/8405|114/1011|38/336||,A|5_prime_UTR_variant|MODIFIER|ACVR1C|ACVR1C|transcript|NM_001111031.1|protein_coding|2/9|c.-37C>T|||||37|;p3_1000G_AA=A|||;p3_1000G_AC=2205;p3_1000G_AF=0.440296;p3_1000G_AFR_AF=0.6974;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=18794;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.3936;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158443889;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2902,1504;ESP6500_AA_AGE=478.8+/-358.3;ESP6500_AA_GTC=966,970,267;ESP6500_CDS_SIZES=NM_145259.2:1482,NM_001111033.1:1011,NM_001111032.1:1242,NM_001111031.1:1332;ESP6500_CG=-2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=207;ESP6500_EA_AC=3401,5199;ESP6500_EA_AGE=639.6+/-399.5;ESP6500_EA_GTC=691,2019,1590;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145259.2:coding-synonymous,NM_001111033.1:coding-synonymous,NM_001111032.1:coding-synonymous,NM_001111031.1:utr-5;ESP6500_GL=ACVR1C;ESP6500_GRCh38_POSITION=2:157587377;ESP6500_GTC=1657,2989,1857;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145259.2:c.114C>T,NM_001111033.1:c.114C>T,NM_001111032.1:c.114C>T,NM_001111031.1:c.-37C>T;ESP6500_HGVS_PROTEIN_VAR=NM_145259.2:p.(F38),NM_001111033.1:p.(F38),NM_001111032.1:p.(F38),.;ESP6500_MAF=39.5465,34.1353,48.4622;ESP6500_TAC=6303,6703	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1419,135,0
chr2	157770468	rs1146031;257466	C	T	881.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1146031;dbSNPBuildID=87;ANN=T|structural_interaction_variant|HIGH|ACVR1|ACVR1|interaction|4C02:A_180-A_230:NM_001105.4|protein_coding|7/11|c.690G>A||||||,T|structural_interaction_variant|HIGH|ACVR1|ACVR1|interaction|4C02:A_180-A_230:NM_001111067.2|protein_coding|7/11|c.690G>A||||||,T|synonymous_variant|LOW|ACVR1|ACVR1|transcript|NM_001105.4|protein_coding|7/11|c.690G>A|p.Glu230Glu|1120/3045|690/1530|230/509||,T|synonymous_variant|LOW|ACVR1|ACVR1|transcript|NM_001111067.2|protein_coding|7/11|c.690G>A|p.Glu230Glu|939/2864|690/1530|230/509||;p3_1000G_AA=C|||;p3_1000G_AC=4577;p3_1000G_AF=0.913938;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=17376;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.9861;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158626980;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3352,1054;ESP6500_AA_AGE=725.1+/-409.6;ESP6500_AA_GTC=1264,824,115;ESP6500_CDS_SIZES=NM_001111067.2:1530,NM_001105.4:1530;ESP6500_CG=0.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=133;ESP6500_EA_AC=8503,97;ESP6500_EA_AGE=815.1+/-407.0;ESP6500_EA_GTC=4203,97,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001111067.2:coding-synonymous,NM_001105.4:coding-synonymous;ESP6500_GL=ACVR1;ESP6500_GRCh38_POSITION=2:157770468;ESP6500_GTC=5467,921,115;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001111067.2:c.690G>A,NM_001105.4:c.690G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001111067.2:p.(E230),NM_001105.4:p.(E230);ESP6500_MAF=1.1279,23.9219,8.8498;ESP6500_TAC=11855,1151;CLINVAR_ALLELEID=250303;CLINVAR_CLNDISDB=MedGen:C0016037,OMIM:135100,Orphanet:ORPHA337,SNOMED_CT:82725007|MedGen:CN169374;CLINVAR_CLNDN=Progressive_myositis_ossificans|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.157770468C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26085;CLINVAR_GENEINFO=ACVR1:90;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1146031	GT:AD:DP:GQ:PL	1/1:0,28:28:84:910,84,0
chr2	157780398	rs2227861;257464	G	A	1629.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2227861;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|ACVR1|ACVR1|transcript|NM_001105.4|protein_coding|4/11|c.270C>T|p.Ala90Ala|700/3045|270/1530|90/509||,A|synonymous_variant|LOW|ACVR1|ACVR1|transcript|NM_001111067.2|protein_coding|4/11|c.270C>T|p.Ala90Ala|519/2864|270/1530|90/509||;p3_1000G_AA=G|||;p3_1000G_AC=3260;p3_1000G_AF=0.650958;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=19153;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.7793;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158636910;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1220,3186;ESP6500_AA_AGE=422.3+/-339.7;ESP6500_AA_GTC=178,864,1161;ESP6500_CDS_SIZES=NM_001111067.2:1530,NM_001105.4:1530;ESP6500_CG=-7.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=66;ESP6500_EA_AC=6645,1955;ESP6500_EA_AGE=723.8+/-406.5;ESP6500_EA_GTC=2563,1519,218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001111067.2:coding-synonymous,NM_001105.4:coding-synonymous;ESP6500_GL=ACVR1;ESP6500_GRCh38_POSITION=2:157780398;ESP6500_GTC=2741,2383,1379;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001111067.2:c.270C>T,NM_001105.4:c.270C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001111067.2:p.(A90),NM_001105.4:p.(A90);ESP6500_MAF=22.7326,27.6895,39.5279;ESP6500_TAC=7865,5141;CLINVAR_ALLELEID=250304;CLINVAR_CLNDISDB=MedGen:C0016037,OMIM:135100,Orphanet:ORPHA337,SNOMED_CT:82725007|MedGen:CN169374;CLINVAR_CLNDN=Progressive_myositis_ossificans|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.157780398G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26096;CLINVAR_GENEINFO=ACVR1:90;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2227861	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1658,174,0
chr2	157780625	rs1866885	A	G	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.178;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=2.296;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=1.45;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1866885;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|ACVR1|ACVR1|transcript|NM_001105.4|protein_coding|3/10|c.68-25T>C||||||,G|intron_variant|MODIFIER|ACVR1|ACVR1|transcript|NM_001111067.2|protein_coding|3/10|c.68-25T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3580;p3_1000G_AF=0.714856;p3_1000G_AFR_AF=0.6104;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=19062;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158637137;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2438,1954;ESP6500_AA_GTC=686,1066,444;ESP6500_CDS_SIZES=NM_001111067.2:1530,NM_001105.4:1530;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=25;ESP6500_EA_AC=5196,3402;ESP6500_EA_GTC=1509,2178,612;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001111067.2:intron,NM_001105.4:intron;ESP6500_GL=ACVR1;ESP6500_GRCh38_POSITION=2:157780625;ESP6500_GTC=2195,3244,1056;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001111067.2:c.68-25T>C,NM_001105.4:c.68-25T>C;ESP6500_MAF=39.5673,44.49,41.2317;ESP6500_TAC=7634,5356	GT:AD:DP:GQ:PL	0/1:5,25:30:42:502,0,42
chr2	157799371	rs111834201;rs3030646;rs68110751	C	CAA	500.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=6.662;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.82;ReadPosRankSum=-0.493;SOR=4.174;INS;HET;VARTYPE=INS;dbSNP138_ID=rs111834201,rs3030646,rs67454731,rs68110751;dbSNPBuildID=135,132,102;ANN=CAA|intron_variant|MODIFIER|ACVR1|ACVR1|transcript|NM_001105.4|protein_coding|3/10|c.67+54_67+55dupTT||||||,CAA|intron_variant|MODIFIER|ACVR1|ACVR1|transcript|NM_001111067.2|protein_coding|3/10|c.67+54_67+55dupTT||||||	GT:AD:DP:GQ:PL	0/1:2,16:18:19:538,0,19
chr2	158101949	rs6757689	T	G	781.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.54;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6757689;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|UPP2|UPP2|transcript|NM_173355.3|protein_coding|1/7|c.-115T>G|||||115|,G|intron_variant|MODIFIER|UPP2|UPP2|transcript|NM_001135098.1|protein_coding|2/8|c.148-91T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=20193;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.0388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158958461;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:158101949_T_G:810,54,0
chr2	158101959	rs6710348	G	A	781.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.66;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6710348;dbSNPBuildID=116;ANN=A|5_prime_UTR_variant|MODIFIER|UPP2|UPP2|transcript|NM_173355.3|protein_coding|1/7|c.-105G>A|||||105|,A|intron_variant|MODIFIER|UPP2|UPP2|transcript|NM_001135098.1|protein_coding|2/8|c.148-81G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=20025;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.0388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158958471;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:158101949_T_G:810,54,0
chr2	158102039	rs11368509;~rs67998287	G	GA	1537.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.04;SOR=0.743;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11368509;dbSNPBuildID=126;ANN=GA|frameshift_variant&splice_region_variant|HIGH|UPP2|UPP2|transcript|NM_001135098.1|protein_coding|3/9|c.148-1_148insA|p.Val50fs|168/2409|148/1125|50/374||,GA|5_prime_UTR_variant|MODIFIER|UPP2|UPP2|transcript|NM_173355.3|protein_coding|1/7|c.-25_-24insA|||||24|;LOF=(UPP2|UPP2|2|0.50);p3_1000G_AA=A|-|A|deletion;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=18031;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.0388;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158958551;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=INDEL;ESP6500_AA_AC=1082,3184;ESP6500_AA_GTC=139,804,1190;ESP6500_CDS_SIZES=NM_173355.3:954,NM_001135098.1:1125;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=125;ESP6500_EA_AC=237,8017;ESP6500_EA_GTC=6,225,3896;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173355.3:utr-5,NM_001135098.1:codingComplex;ESP6500_GL=UPP2;ESP6500_GRCh38_POSITION=2:158102039;ESP6500_GTC=145,1029,5086;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_173355.3:c.-25_-24insA,NM_001135098.1:c.148-1_148insA;ESP6500_MAF=2.8713,25.3633,10.5351;ESP6500_TAC=1319,11201	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1575,117,0
chr2	158102093	rs6710480	G	T	1067.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6710480;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|UPP2|UPP2|transcript|NM_001135098.1|protein_coding|3/9|c.201G>T|p.Arg67Ser|221/2409|201/1125|67/374||,T|missense_variant|MODERATE|UPP2|UPP2|transcript|NM_173355.3|protein_coding|1/7|c.30G>T|p.Arg10Ser|224/2412|30/954|10/317||;p3_1000G_AA=T|||;p3_1000G_AC=849;p3_1000G_AF=0.169529;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=18023;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.0408;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158958605;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1404,3002;ESP6500_AA_AGE=685.7+/-404.6;ESP6500_AA_GTC=239,926,1038;ESP6500_CDS_SIZES=NM_173355.3:954,NM_001135098.1:1125;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=156;ESP6500_EA_AC=252,8348;ESP6500_EA_AGE=807.6+/-407.2;ESP6500_EA_GTC=6,240,4054;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173355.3:missense,NM_001135098.1:missense;ESP6500_GL=UPP2;ESP6500_GRCh38_POSITION=2:158102093;ESP6500_GS=110,110;ESP6500_GTC=245,1166,5092;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_173355.3:c.30G>T,NM_001135098.1:c.201G>T;ESP6500_HGVS_PROTEIN_VAR=NM_173355.3:p.(R10S),NM_001135098.1:p.(R67S);ESP6500_MAF=2.9302,31.8656,12.7326;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=1656,11350	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1096,108,0
chr2	158102167	rs6760699	T	A	580.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6760699;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|UPP2|UPP2|transcript|NM_001135098.1|protein_coding|3/8|c.233+42T>A||||||,A|intron_variant|MODIFIER|UPP2|UPP2|transcript|NM_173355.3|protein_coding|1/6|c.62+42T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=784;p3_1000G_AF=0.15655;p3_1000G_AFR_AF=0.3215;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=17010;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.0408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=158958679;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1198,3208;ESP6500_AA_AGE=703.9+/-407.1;ESP6500_AA_GTC=170,858,1175;ESP6500_CDS_SIZES=NM_173355.3:954,NM_001135098.1:1125;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=251,8349;ESP6500_EA_AGE=806.6+/-407.2;ESP6500_EA_GTC=6,239,4055;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173355.3:intron,NM_001135098.1:intron;ESP6500_GL=UPP2;ESP6500_GRCh38_POSITION=2:158102167;ESP6500_GTC=176,1097,5230;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_173355.3:c.62+42T>A,NM_001135098.1:c.233+42T>A;ESP6500_MAF=2.9186,27.1902,11.141;ESP6500_TAC=1449,11557	GT:AD:DP:GQ:PL	1/1:0,19:19:57:609,57,0
chr2	158172288	rs2222390	A	G	238.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2222390;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|CCDC148-AS1|CCDC148-AS1|transcript|NR_038850.1|pseudogene|1/4|n.75-4313A>G||||||,G|intron_variant|MODIFIER|CCDC148|CCDC148|transcript|NM_138803.3|protein_coding|13/13|c.1630-29T>C||||||,G|intron_variant|MODIFIER|CCDC148|CCDC148|transcript|NM_001301684.1|protein_coding|11/11|c.1192-29T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4939;p3_1000G_AF=0.986222;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=15898;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159028800;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4109,187;ESP6500_AA_GTC=1966,177,5;ESP6500_CDS_SIZES=NM_138803.3:1776;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=19;ESP6500_EA_AC=8549,1;ESP6500_EA_GTC=4274,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138803.3:intron;ESP6500_GL=CCDC148;ESP6500_GRCh38_POSITION=2:158172288;ESP6500_GTC=6240,178,5;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138803.3:c.1630-29T>C;ESP6500_MAF=0.0117,4.3529,1.4635;ESP6500_TAC=12658,188	GT:AD:DP:GQ:PL	1/1:0,8:8:24:267,24,0
chr2	158220507	rs958671	A	C	115.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs958671;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CCDC148-AS1|CCDC148-AS1|transcript|NR_038850.1|pseudogene|4/4|n.355+12890A>C||||||,C|intron_variant|MODIFIER|CCDC148|CCDC148|transcript|NM_138803.3|protein_coding|11/13|c.1370+88T>G||||||,C|intron_variant|MODIFIER|CCDC148|CCDC148|transcript|NM_001301684.1|protein_coding|9/11|c.932+88T>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3579;p3_1000G_AF=0.714657;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=16707;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.6968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159077019;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:143,12,0
chr2	158309557	rs7559772	T	C	1080.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.79;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7559772;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|CCDC148|CCDC148|transcript|NM_138803.3|protein_coding|9/14|c.986A>G|p.Lys329Arg|1300/2846|986/1776|329/591||,C|missense_variant|MODERATE|CCDC148|CCDC148|transcript|NM_001301684.1|protein_coding|7/12|c.548A>G|p.Lys183Arg|1044/2590|548/1338|183/445||;p3_1000G_AA=t|||;p3_1000G_AC=4787;p3_1000G_AF=0.955871;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=18670;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9453;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159166069;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9714;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4119,287;ESP6500_AA_AGE=799.3+/-415.5;ESP6500_AA_GTC=1925,269,9;ESP6500_CDS_SIZES=NM_138803.3:1776,NM_001171637.1:900;ESP6500_CG=3.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=118;ESP6500_EA_AC=8198,402;ESP6500_EA_AGE=801.2+/-407.4;ESP6500_EA_GTC=3912,374,14;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138803.3:missense,NM_001171637.1:missense;ESP6500_GL=CCDC148;ESP6500_GRCh38_POSITION=2:158309557;ESP6500_GS=26,26;ESP6500_GTC=5837,643,23;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138803.3:c.986A>G,NM_001171637.1:c.728A>G;ESP6500_HGVS_PROTEIN_VAR=NM_138803.3:p.(K329R),NM_001171637.1:p.(K243R);ESP6500_MAF=4.6744,6.5138,5.2976;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12317,689	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1109,102,0
chr2	158551369	rs2051944	G	A	1128.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.35;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2051944;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_003628.4|protein_coding|2/21|c.132+18053G>A||||||,A|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304971.1|protein_coding|2/15|c.132+18053G>A||||||,A|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001005476.2|protein_coding|2/20|c.132+18053G>A||||||,A|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304969.1|protein_coding|2/21|c.132+18053G>A||||||,A|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304970.1|protein_coding|2/21|c.-818+18053G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4622;p3_1000G_AF=0.922923;p3_1000G_AFR_AF=0.8691;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=16636;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.9115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159407881;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1157,108,0
chr2	158577988	rs2356189	A	G	176.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.23;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2356189;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_003628.4|protein_coding|3/21|c.245+605A>G||||||,G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304971.1|protein_coding|3/15|c.245+605A>G||||||,G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001005476.2|protein_coding|3/20|c.245+605A>G||||||,G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304969.1|protein_coding|3/21|c.245+605A>G||||||,G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304970.1|protein_coding|3/21|c.-705+605A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2673;p3_1000G_AF=0.533746;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=16961;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159434500;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:205,15,0
chr2	158666367	rs2248854	C	G	673.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2248854;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_003628.4|protein_coding|15/21|c.2578-46C>G||||||,G|intron_variant|MODIFIER|LOC100129029|LOC100129029|transcript|NR_135242.1|pseudogene|2/3|n.420-286G>C||||||,G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304971.1|protein_coding|15/15|c.2578-46C>G||||||,G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001005476.2|protein_coding|15/20|c.2578-46C>G||||||,G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304969.1|protein_coding|15/21|c.2575-46C>G||||||,G|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304970.1|protein_coding|15/21|c.1549-46C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3459;p3_1000G_AF=0.690695;p3_1000G_AFR_AF=0.6861;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=19251;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.5179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159522879;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2943,1463;ESP6500_AA_AGE=468.9+/-355.3;ESP6500_AA_GTC=979,985,239;ESP6500_CDS_SIZES=NM_003628.3:3579,NM_001005476.1:3450;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=67;ESP6500_EA_AC=4607,3993;ESP6500_EA_AGE=552.8+/-386.2;ESP6500_EA_GTC=1248,2111,941;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003628.3:intron,NM_001005476.1:intron;ESP6500_GL=PKP4;ESP6500_GRCh38_POSITION=2:158666367;ESP6500_GTC=2227,3096,1180;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003628.3:c.2578-46C>G,NM_001005476.1:c.2578-46C>G;ESP6500_MAF=46.4302,33.2047,41.9499;ESP6500_TAC=7550,5456	GT:AD:DP:GQ:PL	1/1:0,20:20:60:702,60,0
chr2	158678377	rs2711040	C	T	299.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.31;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2711040;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_003628.4|protein_coding|20/21|c.3257-204C>T||||||,T|intron_variant|MODIFIER|LOC100129029|LOC100129029|transcript|NR_135242.1|pseudogene|2/3|n.419+869G>A||||||,T|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001005476.2|protein_coding|19/20|c.3128-204C>T||||||,T|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304969.1|protein_coding|20/21|c.3254-204C>T||||||,T|intron_variant|MODIFIER|PKP4|PKP4|transcript|NM_001304970.1|protein_coding|20/21|c.2228-204C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3893;p3_1000G_AF=0.777356;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=17260;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.5984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159534889;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:328,27,0
chr2	158703495	rs2528610	C	T	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2528610;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|LOC100129029|LOC100129029|transcript|NR_135242.1|pseudogene|1/3|n.276-24106G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4275;p3_1000G_AF=0.853634;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=17989;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159560007;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:513,48,0
chr2	158795222	rs925781	A	G	631.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.71;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs925781;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|DAPL1|DAPL1|transcript|NM_001017920.2|protein_coding||c.-151A>G|||||95|,G|intergenic_region|MODIFIER|LOC100129029-DAPL1|LOC100129029-DAPL1|intergenic_region|LOC100129029-DAPL1|||n.158795222A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3415;p3_1000G_AF=0.681909;p3_1000G_AFR_AF=0.5923;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=18878;p3_1000G_EAS_AF=0.8313;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159651734;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:660,54,0
chr2	158804565	rs2271663	C	T	593.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271663;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DAPL1|DAPL1|transcript|NM_001017920.2|protein_coding|2/3|c.146+196C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2997;p3_1000G_AF=0.598442;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=13256;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.4612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159661077;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:622,54,0
chr2	158807087	rs9869	T	C	1108.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9869;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|DAPL1|DAPL1|transcript|NM_001017920.2|protein_coding|3/4|c.179T>C|p.Leu60Pro|235/543|179/324|60/107||;p3_1000G_AA=T|||;p3_1000G_AC=2957;p3_1000G_AF=0.590455;p3_1000G_AFR_AF=0.5408;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=15239;p3_1000G_EAS_AF=0.8036;p3_1000G_EUR_AF=0.4284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159663599;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2420,1986;ESP6500_AA_AGE=617.4+/-393.0;ESP6500_AA_GTC=648,1124,431;ESP6500_CDS_SIZES=NM_001017920.2:324;ESP6500_CG=5.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=104;ESP6500_EA_AC=3735,4865;ESP6500_EA_AGE=531.4+/-382.0;ESP6500_EA_GTC=797,2141,1362;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001017920.2:missense;ESP6500_GL=DAPL1;ESP6500_GRCh38_POSITION=2:158807087;ESP6500_GS=98;ESP6500_GTC=1445,3265,1793;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001017920.2:c.179T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001017920.2:p.(L60P);ESP6500_MAF=43.4302,45.0749,47.3243;ESP6500_PH=possibly-damaging:0.763;ESP6500_TAC=6155,6851	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1137,114,0
chr2	159097908	rs13414916	C	T	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.3;ReadPosRankSum=0.253;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13414916;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|4/26|c.259+74C>T||||||,T|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|4/26|c.259+74C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1185;p3_1000G_AF=0.236621;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=18920;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159954420;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3947;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:54:54,0,145
chr2	159136188	rs2288105	C	T	582.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.958;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.883;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-1.128;SOR=1.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288105;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|TANC1|TANC1|transcript|NM_033394.2|protein_coding|4/26|c.260-6C>T||||||,T|splice_region_variant&intron_variant|LOW|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|4/26|c.260-6C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1133;p3_1000G_AF=0.226238;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=17604;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.0845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=159992699;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=603,3223;ESP6500_AA_GTC=59,485,1369;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=132;ESP6500_EA_AC=614,7652;ESP6500_EA_GTC=27,560,3546;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:intron,NM_001145909.1:intron;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159136188;ESP6500_GTC=86,1045,4915;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.260-6C>T,NM_001145909.1:c.260-6C>T;ESP6500_MAF=7.428,15.7606,10.0645;ESP6500_TAC=1217,10875	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,23:41:99:0|1:159136188_C_T:611,0,529
chr2	159163352	rs12466551	A	G	2774.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.26;SOR=0.718;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12466551;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|TANC1|TANC1|transcript|NM_033394.2|protein_coding|8/27|c.752A>G|p.Asn251Ser|1026/7507|752/5586|251/1861||,G|missense_variant|MODERATE|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|8/27|c.749A>G|p.Asn250Ser|1023/7488|749/4173|250/1390||;p3_1000G_AA=G|||;p3_1000G_AC=4907;p3_1000G_AF=0.979832;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20087;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160019863;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3685,133;ESP6500_AA_GTC=1778,129,2;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=68;ESP6500_EA_AC=8208,20;ESP6500_EA_GTC=4094,20,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033394.2:missense,NM_001145909.1:missense;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159163352;ESP6500_GS=46,46;ESP6500_GTC=5872,149,2;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.752A>G,NM_001145909.1:c.749A>G;ESP6500_HGVS_PROTEIN_VAR=NM_033394.2:p.(N251S),NM_001145909.1:p.(N250S);ESP6500_MAF=0.2431,3.4835,1.2701;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11893,153	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2803,243,0
chr2	159178408	rs4665031	A	G	276.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.68;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4665031;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|13/26|c.1903-148A>G||||||,G|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|13/26|c.1879-148A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4906;p3_1000G_AF=0.979633;p3_1000G_AFR_AF=0.9493;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21891;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160034919;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:305,21,0
chr2	159178696	rs6748288	T	C	3413.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6748288;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|TANC1|TANC1|transcript|NM_033394.2|protein_coding|14/27|c.2043T>C|p.Asn681Asn|2317/7507|2043/5586|681/1861||,C|synonymous_variant|LOW|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|14/27|c.2019T>C|p.Asn673Asn|2293/7488|2019/4173|673/1390||;p3_1000G_AA=C|||;p3_1000G_AC=4903;p3_1000G_AF=0.979034;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18570;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160035207;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4162,160;ESP6500_AA_GTC=2004,154,3;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=-7.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=55;ESP6500_EA_AC=8466,20;ESP6500_EA_GTC=4223,20,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:coding-synonymous,NM_001145909.1:coding-synonymous;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159178696;ESP6500_GTC=6227,174,3;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.2043T>C,NM_001145909.1:c.2019T>C;ESP6500_HGVS_PROTEIN_VAR=NM_033394.2:p.(N681),NM_001145909.1:p.(N673);ESP6500_MAF=0.2357,3.702,1.4054;ESP6500_TAC=12628,180	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3442,318,0
chr2	159185919	rs13389867	G	A	967.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.525;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=2.085;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.2;SOR=0.436;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13389867;dbSNPBuildID=121;ANN=A|upstream_gene_variant|MODIFIER|MIR6888|MIR6888|transcript|NR_106948.1|pseudogene||n.-916G>A|||||916|,A|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|15/26|c.2619+20G>A||||||,A|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|15/26|c.2595+20G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=954;p3_1000G_AF=0.190495;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=20469;p3_1000G_EAS_AF=0.0506;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160042430;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=800,3316;ESP6500_AA_GTC=76,648,1334;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=49;ESP6500_EA_AC=2273,6077;ESP6500_EA_GTC=323,1627,2225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:intron,NM_001145909.1:intron;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159185919;ESP6500_GTC=399,2275,3559;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.2619+20G>A,NM_001145909.1:c.2595+20G>A;ESP6500_MAF=27.2216,19.4363,24.6511;ESP6500_TAC=3073,9393	GT:AD:DP:GQ:PL	0/1:30,39:69:99:996,0,752
chr2	159198937	rs13430891	T	A	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.374;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.205;SOR=0.902;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13430891;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|18/26|c.3166-38T>A||||||,A|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|18/26|c.3142-38T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1452;p3_1000G_AF=0.289936;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=21004;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160055448;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=851,3051;ESP6500_AA_GTC=102,647,1202;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=0.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=73;ESP6500_EA_AC=3428,4844;ESP6500_EA_GTC=686,2056,1394;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:intron,NM_001145909.1:intron;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159198937;ESP6500_GTC=788,2703,2596;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.3166-38T>A,NM_001145909.1:c.3142-38T>A;ESP6500_MAF=41.441,21.8093,35.1487;ESP6500_TAC=4279,7895	GT:AD:DP:GQ:PL	0/1:24,21:45:99:450,0,601
chr2	159217370	rs1035058	C	T	93.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.323;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=1.14;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1035058;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|19/26|c.3245-127C>T||||||,T|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|19/26|c.3221-127C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1482;p3_1000G_AF=0.295927;p3_1000G_AFR_AF=0.4032;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=20952;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160073881;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:122,0,288
chr2	159217670	rs2288107	G	C	14.91	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.225;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=0.728;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288107;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|20/26|c.3378+40G>C||||||,C|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|20/26|c.3354+40G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=798;p3_1000G_AF=0.159345;p3_1000G_AFR_AF=0.1604;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=19851;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.0736;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160074181;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=515,3363;ESP6500_AA_GTC=26,463,1450;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=37;ESP6500_EA_AC=604,7698;ESP6500_EA_GTC=28,548,3575;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:intron,NM_001145909.1:intron;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159217670;ESP6500_GTC=54,1011,5025;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.3378+40G>C,NM_001145909.1:c.3354+40G>C;ESP6500_MAF=7.2754,13.28,9.1872;ESP6500_TAC=1119,11061	GT:AD:DP:GQ:PL	0/1:8,2:10:43:43,0,231
chr2	159225843	rs12692544	C	T	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.068;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.252;SOR=1.006;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12692544;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|24/26|c.3903+64C>T||||||,T|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|24/26|c.3879+64C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3742;p3_1000G_AF=0.747204;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=19567;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.8847;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160082354;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,15:24:99:333,0,237
chr2	159227752	rs2042495	A	G	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=0.842;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2042495;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|24/26|c.3904-67A>G||||||,G|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|24/26|c.3880-67A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3747;p3_1000G_AF=0.748203;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=19253;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160084263;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:52:129,0,52
chr2	159227962	rs2288110	A	C	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.9;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=0.237;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288110;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TANC1|TANC1|transcript|NM_033394.2|protein_coding|25/27|c.4047A>C|p.Thr1349Thr|4321/7507|4047/5586|1349/1861||,C|synonymous_variant|LOW|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|25/27|c.4023A>C|p.Thr1341Thr|4297/7488|4023/4173|1341/1390||;p3_1000G_AA=A|||;p3_1000G_AC=2398;p3_1000G_AF=0.478834;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=21388;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160084473;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1371,2477;ESP6500_AA_GTC=252,867,805;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=-0.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=89;ESP6500_EA_AC=2888,5378;ESP6500_EA_GTC=515,1858,1760;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:coding-synonymous,NM_001145909.1:coding-synonymous;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159227962;ESP6500_GTC=767,2725,2565;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.4047A>C,NM_001145909.1:c.4023A>C;ESP6500_HGVS_PROTEIN_VAR=NM_033394.2:p.(T1349),NM_001145909.1:p.(T1341);ESP6500_MAF=34.9383,35.6289,35.1577;ESP6500_TAC=4259,7855	GT:AD:DP:GQ:PL	0/1:26,13:39:99:363,0,664
chr2	159228023	rs2288111	A	G	168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=-1.084;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288111;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|25/26|c.4050+58A>G||||||,G|intron_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|25/26|c.4026+58A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3746;p3_1000G_AF=0.748003;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=20124;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.8847;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160084534;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,8:29:99:197,0,535
chr2	159230142	rs4664276	C	T	1842.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.301;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=8.89;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.43;ReadPosRankSum=-0.867;SOR=1.562;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4664276;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|TANC1|TANC1|transcript|NM_033394.2|protein_coding|27/27|c.4716C>T|p.Ala1572Ala|4990/7507|4716/5586|1572/1861||,T|3_prime_UTR_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|27/27|c.*524C>T|||||524|;p3_1000G_AA=C|||;p3_1000G_AC=2459;p3_1000G_AF=0.491014;p3_1000G_AFR_AF=0.3949;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=20482;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160086653;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1418,2472;ESP6500_AA_GTC=287,844,814;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=58;ESP6500_EA_AC=2746,5536;ESP6500_EA_GTC=523,1700,1918;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:coding-synonymous,NM_001145909.1:utr-3;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159230142;ESP6500_GTC=810,2544,2732;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.4716C>T,NM_001145909.1:c.*524C>T;ESP6500_HGVS_PROTEIN_VAR=NM_033394.2:p.(A1572),.;ESP6500_MAF=33.1562,36.4524,34.2097;ESP6500_TAC=4164,8008	GT:AD:DP:GQ:PGT:PID:PL	0/1:38,48:86:99:0|1:159230142_C_T:1871,0,1917
chr2	159230143	rs4664277;rs55738533	A	G	1842.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=7.349;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.68;ReadPosRankSum=-0.703;SOR=1.514;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55738533;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|TANC1|TANC1|transcript|NM_033394.2|protein_coding|27/27|c.4717A>G|p.Thr1573Ala|4991/7507|4717/5586|1573/1861||,G|3_prime_UTR_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|27/27|c.*525A>G|||||525|;p3_1000G_AA=G|||;p3_1000G_AC=2553;p3_1000G_AF=0.509784;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs55738533;p3_1000G_DP=20467;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.3728;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160086654;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1667,2225;ESP6500_AA_GTC=388,891,667;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=58;ESP6500_EA_AC=2739,5545;ESP6500_EA_GTC=524,1691,1927;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033394.2:missense,NM_001145909.1:utr-3;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159230143;ESP6500_GS=58,.;ESP6500_GTC=912,2582,2594;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.4717A>G,NM_001145909.1:c.*525A>G;ESP6500_HGVS_PROTEIN_VAR=NM_033394.2:p.(T1573A),.;ESP6500_MAF=33.0637,42.8314,36.1859;ESP6500_PH=benign:0.0,.;ESP6500_TAC=4406,7770	GT:AD:DP:GQ:PGT:PID:PL	0/1:38,47:85:99:0|1:159230142_C_T:1871,0,1917
chr2	159230181	rs3821296	A	G	1283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=3.875;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.726;SOR=1.153;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821296;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|TANC1|TANC1|transcript|NM_033394.2|protein_coding|27/27|c.4755A>G|p.Thr1585Thr|5029/7507|4755/5586|1585/1861||,G|3_prime_UTR_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|27/27|c.*563A>G|||||563|;p3_1000G_AA=A|||;p3_1000G_AC=2398;p3_1000G_AF=0.478834;p3_1000G_AFR_AF=0.3495;p3_1000G_AMR_AF=0.6023;p3_1000G_AN=5008;p3_1000G_DP=19188;p3_1000G_EAS_AF=0.6161;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160086692;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1375,2531;ESP6500_AA_GTC=256,863,834;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=61;ESP6500_EA_AC=2869,5395;ESP6500_EA_GTC=511,1847,1774;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:coding-synonymous,NM_001145909.1:utr-3;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159230181;ESP6500_GTC=767,2710,2608;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.4755A>G,NM_001145909.1:c.*563A>G;ESP6500_HGVS_PROTEIN_VAR=NM_033394.2:p.(T1585),.;ESP6500_MAF=34.7168,35.2023,34.8726;ESP6500_TAC=4244,7926	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1312,0,1117
chr2	159231024	rs3821301	T	G	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=5.18;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-1.671;SOR=0.092;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821301;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|TANC1|TANC1|transcript|NM_033394.2|protein_coding|27/27|c.*12T>G|||||12|,G|3_prime_UTR_variant|MODIFIER|TANC1|TANC1|transcript|NM_001145909.1|protein_coding|27/27|c.*1406T>G|||||1406|,G|downstream_gene_variant|MODIFIER|WDSUB1|WDSUB1|transcript|NM_001128212.2|protein_coding||c.*5009A>C|||||4769|,G|downstream_gene_variant|MODIFIER|WDSUB1|WDSUB1|transcript|NM_152528.2|protein_coding||c.*5009A>C|||||4769|,G|downstream_gene_variant|MODIFIER|WDSUB1|WDSUB1|transcript|NM_001128213.1|protein_coding||c.*5009A>C|||||4769|,G|downstream_gene_variant|MODIFIER|WDSUB1|WDSUB1|transcript|NM_001307994.1|protein_coding||c.*5009A>C|||||4769|;p3_1000G_AA=G|||;p3_1000G_AC=3747;p3_1000G_AF=0.748203;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=18572;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160087535;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7209;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2583,1105;ESP6500_AA_GTC=898,787,159;ESP6500_CDS_SIZES=NM_033394.2:5586,NM_001145909.1:4173;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=26;ESP6500_EA_AC=7251,927;ESP6500_EA_GTC=3223,805,61;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033394.2:utr-3,NM_001145909.1:utr-3;ESP6500_GL=TANC1;ESP6500_GRCh38_POSITION=2:159231024;ESP6500_GTC=4121,1592,220;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_033394.2:c.*12T>G,NM_001145909.1:c.*1406T>G;ESP6500_MAF=11.3353,29.962,17.1246;ESP6500_TAC=9834,2032	GT:AD:DP:GQ:PL	0/1:9,10:19:99:298,0,270
chr2	159275685	rs35620648;rs397745507	A	AC	93.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.981;SOR=1.981;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35620648;dbSNPBuildID=126,138;ANN=AC|intron_variant|MODIFIER|WDSUB1|WDSUB1|transcript|NM_001128212.2|protein_coding|3/10|c.584-48dupG||||||,AC|intron_variant|MODIFIER|WDSUB1|WDSUB1|transcript|NM_152528.2|protein_coding|3/10|c.584-48dupG||||||,AC|intron_variant|MODIFIER|WDSUB1|WDSUB1|transcript|NM_001128213.1|protein_coding|3/10|c.584-48dupG||||||,AC|intron_variant|MODIFIER|WDSUB1|WDSUB1|transcript|NM_001307994.1|protein_coding|3/6|c.584-48dupG||||||;p3_1000G_AA=CCcCCCA|CCCCCCC|CCCCCCCC|complex_insertion;p3_1000G_AC=3145;p3_1000G_AF=0.627995;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=14460;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160132196;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,5:7:40:131,0,40
chr2	159320432	rs174229	A	C	490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs174229;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|36/36|c.6354-14T>G||||||,C|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|36/36|c.6279-14T>G||||||,C|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|36/36|c.6297-14T>G||||||,C|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|35/35|c.6246-14T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4728;p3_1000G_AF=0.944089;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=17744;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160176943;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3065,577;ESP6500_AA_GTC=1296,473,52;ESP6500_CDS_SIZES=NM_013450.2:6507;ESP6500_CG=-1.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=46;ESP6500_EA_AC=8149,3;ESP6500_EA_GTC=4073,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013450.2:intron;ESP6500_GL=BAZ2B;ESP6500_GRCh38_POSITION=2:159320432;ESP6500_GTC=5369,476,52;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_013450.2:c.6354-14T>G;ESP6500_MAF=0.0368,15.8429,4.9178;ESP6500_TAC=11214,580	GT:AD:DP:GQ:PL	1/1:0,13:13:39:519,39,0
chr2	159324887	rs188090321	G	A	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.271;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.134;SOR=0.853;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs188090321;dbSNPBuildID=135;ANN=A|missense_variant|MODERATE|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|36/37|c.6277C>T|p.Leu2093Phe|6682/8198|6277/6507|2093/2168||,A|missense_variant|MODERATE|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|36/37|c.6202C>T|p.Leu2068Phe|6450/7966|6202/6432|2068/2143||,A|missense_variant|MODERATE|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|36/37|c.6220C>T|p.Leu2074Phe|6533/8049|6220/6450|2074/2149||,A|missense_variant|MODERATE|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|35/36|c.6169C>T|p.Leu2057Phe|6574/8090|6169/6399|2057/2132||;p3_1000G_AA=G|||;p3_1000G_AC=18;p3_1000G_AF=0.00359425;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=8763;p3_1000G_EAS_AF=0.0179;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160181398;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,19:41:99:411,0,489
chr2	159325563	rs440241	T	A	130.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs440241;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|35/36|c.6209+90A>T||||||,A|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|35/36|c.6134+90A>T||||||,A|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|35/36|c.6152+90A>T||||||,A|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|34/35|c.6101+90A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3792;p3_1000G_AF=0.757188;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=15051;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160182074;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:158,12,0
chr2	159337481	rs7559010	C	T	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.787;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.03;SOR=1.414;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7559010;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|32/37|c.5584G>A|p.Val1862Ile|5897/8049|5584/6450|1862/2149||,T|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|32/36|c.5660+86G>A||||||,T|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|32/36|c.5585+86G>A||||||,T|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|31/35|c.5552+86G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=344;p3_1000G_AF=0.0686901;p3_1000G_AFR_AF=0.0734;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=22659;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160193992;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,14:31:99:429,0,581
chr2	159347423	rs965163	A	C	834.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.83;SOR=2.019;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs965163;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|31/36|c.5454+63T>G||||||,C|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|31/36|c.5379+63T>G||||||,C|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|31/36|c.5292+63T>G||||||,C|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|30/35|c.5346+63T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2753;p3_1000G_AF=0.54972;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=20969;p3_1000G_EAS_AF=0.747;p3_1000G_EUR_AF=0.5268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160203934;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/0:0,21:21:99:863,258,195
chr2	159347423	rs965163	A	T	834.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.83;SOR=2.019;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs965163;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|31/36|c.5454+63T>A||||||,T|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|31/36|c.5379+63T>A||||||,T|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|31/36|c.5292+63T>A||||||,T|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|30/35|c.5346+63T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2115;p3_1000G_AF=0.422324;p3_1000G_AFR_AF=0.6891;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=20969;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.4722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160203934;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:0,9:9:99:863,606,579
chr2	159374597	rs6742788	A	G	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.313;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.09;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6742788;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|26/36|c.4068+94T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|26/36|c.3993+94T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|26/36|c.3906+94T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|25/35|c.3960+94T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2899;p3_1000G_AF=0.578874;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=16693;p3_1000G_EAS_AF=0.6766;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160231108;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:139,0,129
chr2	159382867	rs2302927	A	G	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.72;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=1.68;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302927;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|24/36|c.3762-65T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|24/36|c.3687-65T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|24/36|c.3600-65T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|23/35|c.3654-65T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1158;p3_1000G_AF=0.23123;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=19865;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.4751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160239378;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:211,0,293
chr2	159385425	rs1469015	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=-0.812;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1469015;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|22/36|c.3472-56T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|22/36|c.3397-56T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|22/36|c.3310-56T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|21/35|c.3364-56T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2743;p3_1000G_AF=0.547724;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=17555;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.7425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160241936;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:82:229,0,82
chr2	159453821	rs567296146	A	G	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.17;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.736;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_013450.3|protein_coding|3/36|c.146-20T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329858.1|protein_coding|3/36|c.146-20T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001329857.1|protein_coding|3/36|c.146-5412T>C||||||,G|intron_variant|MODIFIER|BAZ2B|BAZ2B|transcript|NM_001289975.1|protein_coding|3/35|c.146-20T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15676;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160310332;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:298,0,242
chr2	159747868	rs16844275	C	T	1040.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16844275;dbSNPBuildID=123;ANN=T|missense_variant|MODERATE|MARCH7|MARCH7|transcript|NM_001282805.1|protein_coding|7/12|c.578C>T|p.Thr193Ile|870/3648|578/2115|193/704||,T|missense_variant|MODERATE|MARCH7|MARCH7|transcript|NM_001282806.1|protein_coding|4/8|c.410C>T|p.Thr137Ile|574/3303|410/1908|137/635||,T|missense_variant|MODERATE|MARCH7|MARCH7|transcript|NM_022826.3|protein_coding|5/10|c.578C>T|p.Thr193Ile|742/3520|578/2115|193/704||,T|missense_variant|MODERATE|MARCH7|MARCH7|transcript|NM_001282807.1|protein_coding|4/9|c.464C>T|p.Thr155Ile|617/3395|464/2001|155/666||;p3_1000G_AA=C|||;p3_1000G_AC=183;p3_1000G_AF=0.0365415;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=17554;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160604379;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=42,4364;ESP6500_AA_AGE=46.0+/-80.4;ESP6500_AA_GTC=0,42,2161;ESP6500_CDS_SIZES=NM_022826.2:2115;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=88;ESP6500_EA_AC=239,8361;ESP6500_EA_AGE=95.9+/-157.7;ESP6500_EA_GTC=4,231,4065;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022826.2:missense;ESP6500_GL=MARCH7;ESP6500_GRCh38_POSITION=2:159747868;ESP6500_GS=89;ESP6500_GTC=4,273,6226;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022826.2:c.578C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022826.2:p.(T193I);ESP6500_MAF=2.7791,0.9532,2.1605;ESP6500_PH=probably-damaging:0.96;ESP6500_TAC=281,12725	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1069,99,0
chr2	159748757	rs1365803	T	C	1700.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1365803;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|MARCH7|MARCH7|transcript|NM_001282805.1|protein_coding|7/12|c.1467T>C|p.Pro489Pro|1759/3648|1467/2115|489/704||,C|synonymous_variant|LOW|MARCH7|MARCH7|transcript|NM_001282806.1|protein_coding|4/8|c.1299T>C|p.Pro433Pro|1463/3303|1299/1908|433/635||,C|synonymous_variant|LOW|MARCH7|MARCH7|transcript|NM_022826.3|protein_coding|5/10|c.1467T>C|p.Pro489Pro|1631/3520|1467/2115|489/704||,C|synonymous_variant|LOW|MARCH7|MARCH7|transcript|NM_001282807.1|protein_coding|4/9|c.1353T>C|p.Pro451Pro|1506/3395|1353/2001|451/666||;p3_1000G_AA=C|||;p3_1000G_AC=4465;p3_1000G_AF=0.891573;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=16833;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.9225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160605268;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4244,162;ESP6500_AA_AGE=108.6+/-147.0;ESP6500_AA_GTC=2045,154,4;ESP6500_CDS_SIZES=NM_022826.2:2115;ESP6500_CG=-1.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=205;ESP6500_EA_AC=7829,771;ESP6500_EA_AGE=183.0+/-231.3;ESP6500_EA_GTC=3552,725,23;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022826.2:coding-synonymous;ESP6500_GL=MARCH7;ESP6500_GRCh38_POSITION=2:159748757;ESP6500_GTC=5597,879,27;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022826.2:c.1467T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022826.2:p.(P489);ESP6500_MAF=8.9651,3.6768,7.1736;ESP6500_TAC=12073,933	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1729,156,0
chr2	159748977	rs371758273	TC	T	81.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.25;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs371758273;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|MARCH7|MARCH7|transcript|NM_001282805.1|protein_coding|7/11|c.1613+75delC||||||,T|intron_variant|MODIFIER|MARCH7|MARCH7|transcript|NM_001282806.1|protein_coding|4/7|c.1445+75delC||||||,T|intron_variant|MODIFIER|MARCH7|MARCH7|transcript|NM_022826.3|protein_coding|5/9|c.1613+75delC||||||,T|intron_variant|MODIFIER|MARCH7|MARCH7|transcript|NM_001282807.1|protein_coding|4/8|c.1499+75delC||||||;p3_1000G_AA=-|C|-|insertion;p3_1000G_AC=2386;p3_1000G_AF=0.476438;p3_1000G_AFR_AF=0.5318;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=16692;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.498;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160605488;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4213;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:118,12,0
chr2	159780813	rs2303551	A	G	301.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2303551;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CD302|CD302|transcript|NM_014880.4|protein_coding|3/5|c.295+69T>C||||||,G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|36/38|c.5218+69T>C||||||,G|intron_variant|MODIFIER|CD302|CD302|transcript|NM_001198763.1|protein_coding|3/4|c.295+69T>C||||||,G|intron_variant|MODIFIER|CD302|CD302|transcript|NM_001198764.1|protein_coding|2/4|c.184+69T>C||||||,G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|35/37|c.5050+69T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4516;p3_1000G_AF=0.901757;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=17922;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.9235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160637324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8988;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:330,24,0
chr2	159798254	rs536617882	GGCGGGA	G	78.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=142;ANN=G|5_prime_UTR_variant|MODIFIER|CD302|CD302|transcript|NM_014880.4|protein_coding|1/6|c.-62_-57delTCCCGC|||||57|,G|5_prime_UTR_variant|MODIFIER|CD302|CD302|transcript|NM_001198763.1|protein_coding|1/5|c.-62_-57delTCCCGC|||||57|,G|5_prime_UTR_variant|MODIFIER|CD302|CD302|transcript|NM_001198764.1|protein_coding|1/5|c.-62_-57delTCCCGC|||||57|,G|upstream_gene_variant|MODIFIER|CD302|CD302|transcript|NM_014880.4|protein_coding|1/6|c.-62_-57delTCCCGC|||||0|,G|upstream_gene_variant|MODIFIER|CD302|CD302|transcript|NM_001198763.1|protein_coding|1/5|c.-62_-57delTCCCGC|||||0|,G|upstream_gene_variant|MODIFIER|CD302|CD302|transcript|NM_001198764.1|protein_coding|1/5|c.-62_-57delTCCCGC|||||0|,G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|34/38|c.4990+8713_4990+8718delTCCCGC||||||,G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|33/37|c.4822+10189_4822+10194delTCCCGC||||||,G|non_coding_transcript_variant|MODIFIER|CD302|CD302|transcript|NM_014880.4|protein_coding|1/6|c.-62_-57delTCCCGC||||||,G|non_coding_transcript_variant|MODIFIER|CD302|CD302|transcript|NM_001198763.1|protein_coding|1/5|c.-62_-57delTCCCGC||||||,G|non_coding_transcript_variant|MODIFIER|CD302|CD302|transcript|NM_001198764.1|protein_coding|1/5|c.-62_-57delTCCCGC||||||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=7514;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160654765;p3_1000G_GRCH37_REF=GGCGGGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:159798254_GGCGGGA_G:115,9,0
chr2	159798279	rs111456791	G	T	62.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs111456791;dbSNPBuildID=132;ANN=T|upstream_gene_variant|MODIFIER|CD302|CD302|transcript|NM_014880.4|protein_coding||c.-81C>A|||||24|,T|upstream_gene_variant|MODIFIER|CD302|CD302|transcript|NM_001198763.1|protein_coding||c.-81C>A|||||24|,T|upstream_gene_variant|MODIFIER|CD302|CD302|transcript|NM_001198764.1|protein_coding||c.-81C>A|||||24|,T|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|34/38|c.4990+8694C>A||||||,T|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|33/37|c.4822+10170C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=736;p3_1000G_AF=0.146965;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=7057;p3_1000G_EAS_AF=0.0923;p3_1000G_EUR_AF=0.0338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160654790;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:159798254_GGCGGGA_G:90,6,0
chr2	159806924	rs12463589	T	C	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.05;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.262;SOR=1.214;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12463589;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|34/38|c.4990+49A>G||||||,C|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|34/34|c.4990+49A>G||||||,C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|33/37|c.4822+1525A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1329;p3_1000G_AF=0.265375;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=19636;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160663435;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=383,4023;ESP6500_AA_AGE=189.5+/-215.6;ESP6500_AA_GTC=15,353,1835;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=59;ESP6500_EA_AC=3525,5075;ESP6500_EA_AGE=508.0+/-377.0;ESP6500_EA_GTC=734,2057,1509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002349.3:intron,NM_001198760.1:intron,NM_001198759.1:intron;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159806924;ESP6500_GTC=749,2410,3344;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.4990+49A>G,NM_001198760.1:c.4822+1525A>G,NM_001198759.1:c.4990+49A>G;ESP6500_MAF=40.9884,8.6927,30.0477;ESP6500_TAC=3908,9098	GT:AD:DP:GQ:PL	0/1:13,9:22:99:311,0,393
chr2	159807167	rs7566887	T	C	427.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=6.529;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.082;SOR=0.127;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7566887;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|33/38|c.4823-27A>G||||||,C|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|33/34|c.4823-27A>G||||||,C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|33/37|c.4822+1282A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3033;p3_1000G_AF=0.605631;p3_1000G_AFR_AF=0.59;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=19851;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.7664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160663678;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2553,1853;ESP6500_AA_AGE=627.8+/-395.0;ESP6500_AA_GTC=719,1115,369;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=60;ESP6500_EA_AC=6459,2141;ESP6500_EA_AGE=710.6+/-405.8;ESP6500_EA_GTC=2434,1591,275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002349.3:intron,NM_001198760.1:intron,NM_001198759.1:intron;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159807167;ESP6500_GTC=3153,2706,644;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.4823-27A>G,NM_001198760.1:c.4822+1282A>G,NM_001198759.1:c.4823-27A>G;ESP6500_MAF=24.8953,42.0563,30.7089;ESP6500_TAC=9012,3994	GT:AD:DP:GQ:PL	0/1:20,18:38:99:456,0,480
chr2	159817015	rs2059696	A	G	400.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.6;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.594;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.87;SOR=0.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2059696;dbSNPBuildID=94;ANN=G|missense_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|30/39|c.4171T>C|p.Tyr1391His|4245/8919|4171/5622|1391/1873||,G|missense_variant|MODERATE|LY75|LY75|transcript|NM_002349.3|protein_coding|30/35|c.4171T>C|p.Tyr1391His|4245/6931|4171/5169|1391/1722||,G|missense_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|30/38|c.4171T>C|p.Tyr1391His|4245/8751|4171/5454|1391/1817||;p3_1000G_AA=A|||;p3_1000G_AC=1030;p3_1000G_AF=0.205671;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=18449;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.327;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160673526;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=307,4099;ESP6500_AA_AGE=165.4+/-196.9;ESP6500_AA_GTC=9,289,1905;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=75;ESP6500_EA_AC=2652,5948;ESP6500_EA_AGE=423.7+/-354.4;ESP6500_EA_GTC=411,1830,2059;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002349.3:missense,NM_001198760.1:missense,NM_001198759.1:missense;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159817015;ESP6500_GS=83,83,83;ESP6500_GTC=420,2119,3964;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.4171T>C,NM_001198760.1:c.4171T>C,NM_001198759.1:c.4171T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002349.3:p.(Y1391H),NM_001198760.1:p.(Y1391H),NM_001198759.1:p.(Y1391H);ESP6500_MAF=30.8372,6.9678,22.751;ESP6500_PH=benign:0.01,benign:0.01,benign:0.01;ESP6500_TAC=2959,10047	GT:AD:DP:GQ:PL	0/1:17,14:31:99:429,0,467
chr2	159819916	rs12692566	C	A	632.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.51;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12692566;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|29/39|c.3963G>T|p.Lys1321Asn|4037/8919|3963/5622|1321/1873||,A|missense_variant|MODERATE|LY75|LY75|transcript|NM_002349.3|protein_coding|29/35|c.3963G>T|p.Lys1321Asn|4037/6931|3963/5169|1321/1722||,A|missense_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|29/38|c.3963G>T|p.Lys1321Asn|4037/8751|3963/5454|1321/1817||;p3_1000G_AA=A|||;p3_1000G_AC=4234;p3_1000G_AF=0.845447;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=16930;p3_1000G_EAS_AF=0.9058;p3_1000G_EUR_AF=0.8042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160676427;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3915,485;ESP6500_AA_AGE=216.8+/-235.3;ESP6500_AA_GTC=1740,435,25;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=51;ESP6500_EA_AC=7118,1482;ESP6500_EA_AGE=278.7+/-293.6;ESP6500_EA_GTC=2953,1212,135;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002349.3:missense,NM_001198760.1:missense,NM_001198759.1:missense;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159819916;ESP6500_GS=94,94,94;ESP6500_GTC=4693,1647,160;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.3963G>T,NM_001198760.1:c.3963G>T,NM_001198759.1:c.3963G>T;ESP6500_HGVS_PROTEIN_VAR=NM_002349.3:p.(K1321N),NM_001198760.1:p.(K1321N),NM_001198759.1:p.(K1321N);ESP6500_MAF=17.2326,11.0227,15.1308;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=11033,1967	GT:AD:DP:GQ:PL	1/1:0,23:23:69:661,69,0
chr2	159819934	rs36120198;rs60586916;~rs60586916	A	AT	418.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.92;SOR=1.911;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs60586916,rs36120198;dbSNPBuildID=126,130;ANN=AT|sequence_feature|MODERATE|LY75|LY75|glycosylation-site:N-linked_(GlcNAc...)|NM_002349.3|protein_coding|28/34|c.3959-15dupA||||||,AT|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|28/38|c.3959-15dupA||||||,AT|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|28/34|c.3959-15dupA||||||,AT|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|28/37|c.3959-15dupA||||||;p3_1000G_AC=3610;p3_1000G_AF=0.720847;p3_1000G_AFR_AF=0.6551;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=16741;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.7018;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160676445;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=INDEL;ESP6500_AA_AC=2916,231,1103;ESP6500_AA_GTC=1022,151,721,10,60,161;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_002349.3:5169,NM_001198760.1:5454,NM_001198760.1:5454,NM_001198759.1:5622,NM_001198759.1:5622;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=38;ESP6500_EA_AC=5917,860,1475;ESP6500_EA_GTC=2146,595,1030,52,161,142;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002349.3:intron,NM_002349.3:intron,NM_001198760.1:intron,NM_001198760.1:intron,NM_001198759.1:intron,NM_001198759.1:intron;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159819934;ESP6500_GTC=3168,746,1751,62,221,303;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.3959-15_3959-14insAA,NM_002349.3:c.3959-15_3959-14insA,NM_001198760.1:c.3959-15_3959-14insAA,NM_001198760.1:c.3959-15_3959-14insA,NM_001198759.1:c.3959-15_3959-14insAA,NM_001198759.1:c.3959-15_3959-14insA;ESP6500_MAF=28.2962,31.3882,29.3473;ESP6500_TAC=8833,1091,2578	GT:AD:DP:GQ:PL	1/1:0,15:15:45:456,45,0
chr2	159835467	rs2303548	G	A	384.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.079;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-1.304;SOR=0.56;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303548;dbSNPBuildID=100;ANN=A|sequence_feature|MODERATE|LY75|LY75|glycosylation-site:N-linked_(GlcNAc...)|NM_002349.3|protein_coding|26/34|c.3673+13C>T||||||,A|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|26/38|c.3673+13C>T||||||,A|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|26/34|c.3673+13C>T||||||,A|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|26/37|c.3673+13C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=693;p3_1000G_AF=0.138379;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=15634;p3_1000G_EAS_AF=0.2718;p3_1000G_EUR_AF=0.165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160691978;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=154,4252;ESP6500_AA_AGE=102.5+/-141.1;ESP6500_AA_GTC=3,148,2052;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=1448,7152;ESP6500_EA_AGE=269.7+/-288.6;ESP6500_EA_GTC=109,1230,2961;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002349.3:intron,NM_001198760.1:intron,NM_001198759.1:intron;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159835467;ESP6500_GTC=112,1378,5013;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.3673+13C>T,NM_001198760.1:c.3673+13C>T,NM_001198759.1:c.3673+13C>T;ESP6500_MAF=16.8372,3.4952,12.3174;ESP6500_TAC=1602,11404	GT:AD:DP:GQ:PL	0/1:10,16:26:99:413,0,319
chr2	159842174	rs201135691	ACT	A	20.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.46;ReadPosRankSum=0;SOR=0.039;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201135691;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|24/38|c.3280+69_3280+70delAG||||||,A|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|24/34|c.3280+69_3280+70delAG||||||,A|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|24/37|c.3280+69_3280+70delAG||||||	GT:AD:DP:GQ:PL	0/1:4,2:6:58:58,0,135
chr2	159850393	rs746620642	G	C	823.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.69;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.748;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|synonymous_variant|LOW|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|22/39|c.2958C>G|p.Thr986Thr|3032/8919|2958/5622|986/1873||,C|synonymous_variant|LOW|LY75|LY75|transcript|NM_002349.3|protein_coding|22/35|c.2958C>G|p.Thr986Thr|3032/6931|2958/5169|986/1722||,C|synonymous_variant|LOW|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|22/38|c.2958C>G|p.Thr986Thr|3032/8751|2958/5454|986/1817||	GT:AD:DP:GQ:PL	0/1:30,36:66:99:852,0,854
chr2	159850564	rs41264207	C	T	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.342;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.227;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41264207;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|21/38|c.2884-97G>A||||||,T|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|21/34|c.2884-97G>A||||||,T|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|21/37|c.2884-97G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=494;p3_1000G_AF=0.0986422;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=13744;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.0785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160707075;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:223,0,350
chr2	159852098	rs2162499	C	T	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.522;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.86;SOR=2.03;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2162499;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|21/38|c.2883+103G>A||||||,T|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|21/34|c.2883+103G>A||||||,T|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|21/37|c.2883+103G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=488;p3_1000G_AF=0.0974441;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=20867;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160708609;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:253,0,216
chr2	159852134	rs2162500	C	G	388.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.28;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.291;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=1.59;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2162500;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|21/38|c.2883+67G>C||||||,G|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|21/34|c.2883+67G>C||||||,G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|21/37|c.2883+67G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1452;p3_1000G_AF=0.289936;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=21049;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.5249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160708645;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:417,0,287
chr2	159852412	rs36091128;rs765719425;rs78595444	GT	G	58.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.703;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs36091128,rs78595444;dbSNPBuildID=126,144,138;ANN=G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|20/38|c.2744-73delA||||||,G|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|20/34|c.2744-73delA||||||,G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|20/37|c.2744-73delA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,3:8:96:0|1:159852412_GT_G:96,0,189
chr2	159852422	rs200419175	GTT	G	58.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=1.03;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs200419175;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|20/38|c.2744-84_2744-83delAA||||||,G|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|20/34|c.2744-84_2744-83delAA||||||,G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|20/37|c.2744-84_2744-83delAA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,3:8:96:0|1:159852412_GT_G:96,0,189
chr2	159854411	rs2729705	T	C	20.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.42;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=-2.012;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2729705;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|18/39|c.2544A>G|p.Ala848Ala|2618/8919|2544/5622|848/1873||,C|synonymous_variant|LOW|LY75|LY75|transcript|NM_002349.3|protein_coding|18/35|c.2544A>G|p.Ala848Ala|2618/6931|2544/5169|848/1722||,C|synonymous_variant|LOW|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|18/38|c.2544A>G|p.Ala848Ala|2618/8751|2544/5454|848/1817||;p3_1000G_AA=C|||;p3_1000G_AC=2616;p3_1000G_AF=0.522364;p3_1000G_AFR_AF=0.7413;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=15220;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.5736;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160710922;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3148,1258;ESP6500_AA_AGE=428.5+/-341.9;ESP6500_AA_GTC=1113,922,168;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=-0.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=81;ESP6500_EA_AC=4858,3742;ESP6500_EA_AGE=532.9+/-382.3;ESP6500_EA_GTC=1360,2138,802;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002349.3:coding-synonymous,NM_001198760.1:coding-synonymous,NM_001198759.1:coding-synonymous;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159854411;ESP6500_GTC=2473,3060,970;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.2544A>G,NM_001198760.1:c.2544A>G,NM_001198759.1:c.2544A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002349.3:p.(A848),NM_001198760.1:p.(A848),NM_001198759.1:p.(A848);ESP6500_MAF=43.5116,28.552,38.4438;ESP6500_TAC=8006,5000	GT:AD:DP:GQ:PL	0/1:10,2:12:49:49,0,261
chr2	159854534	rs3951216	G	C	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.191;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-0.191;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3951216;dbSNPBuildID=108;ANN=C|missense_variant&splice_region_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|18/39|c.2421C>G|p.Asp807Glu|2495/8919|2421/5622|807/1873||,C|missense_variant&splice_region_variant|MODERATE|LY75|LY75|transcript|NM_002349.3|protein_coding|18/35|c.2421C>G|p.Asp807Glu|2495/6931|2421/5169|807/1722||,C|missense_variant&splice_region_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|18/38|c.2421C>G|p.Asp807Glu|2495/8751|2421/5454|807/1817||;p3_1000G_AA=C|||;p3_1000G_AC=2834;p3_1000G_AF=0.565895;p3_1000G_AFR_AF=0.3896;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=15355;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.4304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160711045;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7873;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1718,2688;ESP6500_AA_AGE=648.1+/-398.7;ESP6500_AA_GTC=316,1086,801;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=61;ESP6500_EA_AC=3765,4835;ESP6500_EA_AGE=614.7+/-396.3;ESP6500_EA_GTC=810,2145,1345;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002349.3:missense-near-splice,NM_001198760.1:missense-near-splice,NM_001198759.1:missense-near-splice;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159854534;ESP6500_GS=45,45,45;ESP6500_GTC=1126,3231,2146;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.2421C>G,NM_001198760.1:c.2421C>G,NM_001198759.1:c.2421C>G;ESP6500_HGVS_PROTEIN_VAR=NM_002349.3:p.(D807E),NM_001198760.1:p.(D807E),NM_001198759.1:p.(D807E);ESP6500_MAF=43.7791,38.9923,42.1575;ESP6500_PH=benign:0.002,benign:0.002,benign:0.002;ESP6500_TAC=5483,7523	GT:AD:DP:GQ:PL	0/1:3,8:11:58:201,0,58
chr2	159854737	rs975491	T	C	353.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.24;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs975491;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|17/38|c.2419+167A>G||||||,C|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|17/34|c.2419+167A>G||||||,C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|17/37|c.2419+167A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4361;p3_1000G_AF=0.870807;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=17410;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160711248;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:382,30,0
chr2	159855045	rs975490	T	G	581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs975490;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|16/38|c.2384-106A>C||||||,G|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|16/34|c.2384-106A>C||||||,G|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|16/37|c.2384-106A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4358;p3_1000G_AF=0.870208;p3_1000G_AFR_AF=0.584;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=18645;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160711556;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:610,51,0
chr2	159872494	rs1397706	C	T	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.456;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=2;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1397706;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|13/39|c.2074G>A|p.Asp692Asn|2148/8919|2074/5622|692/1873||,T|missense_variant|MODERATE|LY75|LY75|transcript|NM_002349.3|protein_coding|13/35|c.2074G>A|p.Asp692Asn|2148/6931|2074/5169|692/1722||,T|missense_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|13/38|c.2074G>A|p.Asp692Asn|2148/8751|2074/5454|692/1817||;p3_1000G_AA=C|||;p3_1000G_AC=491;p3_1000G_AF=0.0980431;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=18572;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.0775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160729005;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=78,4328;ESP6500_AA_AGE=68.7+/-106.4;ESP6500_AA_GTC=2,74,2127;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=130;ESP6500_EA_AC=671,7929;ESP6500_EA_AGE=168.7+/-220.2;ESP6500_EA_GTC=24,623,3653;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002349.3:missense,NM_001198760.1:missense,NM_001198759.1:missense;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159872494;ESP6500_GS=23,23,23;ESP6500_GTC=26,697,5780;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.2074G>A,NM_001198760.1:c.2074G>A,NM_001198759.1:c.2074G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002349.3:p.(D692N),NM_001198760.1:p.(D692N),NM_001198759.1:p.(D692N);ESP6500_MAF=7.8023,1.7703,5.7589;ESP6500_PH=benign:0.005,benign:0.005,benign:0.005;ESP6500_TAC=749,12257	GT:AD:DP:GQ:PL	0/1:23,13:36:99:257,0,619
chr2	159872623	rs1397705	A	C	375.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1397705;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|12/38|c.1975-30T>G||||||,C|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|12/34|c.1975-30T>G||||||,C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|12/37|c.1975-30T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4361;p3_1000G_AF=0.870807;p3_1000G_AFR_AF=0.587;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=19527;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160729134;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2819,1587;ESP6500_AA_AGE=470.0+/-355.6;ESP6500_AA_GTC=895,1029,279;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=3.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=47;ESP6500_EA_AC=8311,289;ESP6500_EA_AGE=106.2+/-167.1;ESP6500_EA_GTC=4014,283,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002349.3:intron,NM_001198760.1:intron,NM_001198759.1:intron;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159872623;ESP6500_GTC=4909,1312,282;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.1975-30T>G,NM_001198760.1:c.1975-30T>G,NM_001198759.1:c.1975-30T>G;ESP6500_MAF=3.3605,36.0191,14.4241;ESP6500_TAC=11130,1876	GT:AD:DP:GQ:PL	1/1:0,12:12:36:404,36,0
chr2	159872675	rs10168271	T	C	70.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=-0.319;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10168271;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|12/38|c.1975-82A>G||||||,C|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|12/34|c.1975-82A>G||||||,C|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|12/37|c.1975-82A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2520;p3_1000G_AF=0.503195;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=21492;p3_1000G_EAS_AF=0.7133;p3_1000G_EUR_AF=0.4304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160729186;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:24:99,0,24
chr2	159881049	rs2729711	G	T	858.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2729711;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|8/38|c.1404+34C>A||||||,T|intron_variant|MODIFIER|LY75|LY75|transcript|NM_002349.3|protein_coding|8/34|c.1404+34C>A||||||,T|intron_variant|MODIFIER|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|8/37|c.1404+34C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4170;p3_1000G_AF=0.832668;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=19777;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160737560;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2380,2026;ESP6500_AA_AGE=562.7+/-381.0;ESP6500_AA_GTC=638,1104,461;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=-2.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=8277,323;ESP6500_EA_AGE=112.9+/-173.0;ESP6500_EA_GTC=3982,313,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002349.3:intron,NM_001198760.1:intron,NM_001198759.1:intron;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159881049;ESP6500_GTC=4620,1417,466;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.1404+34C>A,NM_001198760.1:c.1404+34C>A,NM_001198759.1:c.1404+34C>A;ESP6500_MAF=3.7558,45.9828,18.0609;ESP6500_TAC=10657,2349	GT:AD:DP:GQ:PL	1/1:0,25:25:75:887,75,0
chr2	159886529	rs2271381	T	A	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.242;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.372;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271381;dbSNPBuildID=100;ANN=A|missense_variant&splice_region_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198759.1|protein_coding|5/39|c.804A>T|p.Glu268Asp|878/8919|804/5622|268/1873||,A|missense_variant&splice_region_variant|MODERATE|LY75|LY75|transcript|NM_002349.3|protein_coding|5/35|c.804A>T|p.Glu268Asp|878/6931|804/5169|268/1722||,A|missense_variant&splice_region_variant|MODERATE|LY75-CD302|LY75-CD302|transcript|NM_001198760.1|protein_coding|5/38|c.804A>T|p.Glu268Asp|878/8751|804/5454|268/1817||;p3_1000G_AA=T|||;p3_1000G_AC=1179;p3_1000G_AF=0.235423;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=17719;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.2555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160743040;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=462,3944;ESP6500_AA_AGE=214.8+/-234.0;ESP6500_AA_GTC=26,410,1767;ESP6500_CDS_SIZES=NM_002349.3:5169,NM_001198760.1:5454,NM_001198759.1:5622;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=2094,6506;ESP6500_EA_AGE=357.0+/-330.6;ESP6500_EA_GTC=273,1548,2479;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002349.3:missense-near-splice,NM_001198760.1:missense-near-splice,NM_001198759.1:missense-near-splice;ESP6500_GL=LY75,LY75-CD302;ESP6500_GRCh38_POSITION=2:159886529;ESP6500_GS=45,45,45;ESP6500_GTC=299,1958,4246;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_002349.3:c.804A>T,NM_001198760.1:c.804A>T,NM_001198759.1:c.804A>T;ESP6500_HGVS_PROTEIN_VAR=NM_002349.3:p.(E268D),NM_001198760.1:p.(E268D),NM_001198759.1:p.(E268D);ESP6500_MAF=24.3488,10.4857,19.6525;ESP6500_PH=benign:0.008,benign:0.008,benign:0.008;ESP6500_TAC=2556,10450	GT:AD:DP:GQ:PL	0/1:16,6:22:99:131,0,425
chr2	159949482	rs6726923	C	G	319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6726923;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|25/29|c.3709+126G>C||||||,G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|25/29|c.3709+126G>C||||||,G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|25/26|c.3709+126G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4896;p3_1000G_AF=0.977636;p3_1000G_AFR_AF=0.9175;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=23909;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160805993;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:348,30,0
chr2	159951564	rs3828323	C	T	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.171;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=2.98;SOR=0.706;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828323;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|24/30|c.3316G>A|p.Gly1106Ser|3528/5633|3316/4392|1106/1463||,T|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|24/30|c.3316G>A|p.Gly1106Ser|3528/5627|3316/4386|1106/1461||,T|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|24/27|c.3316G>A|p.Gly1106Ser|3528/5165|3316/3975|1106/1324||;p3_1000G_AA=C|||;p3_1000G_AC=1249;p3_1000G_AF=0.249401;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=22780;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.5169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160808075;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=468,3938;ESP6500_AA_AGE=221.3+/-238.5;ESP6500_AA_GTC=20,428,1755;ESP6500_CDS_SIZES=NM_007366.4:4392,NM_001195641.1:4386,NM_001007267.2:3975;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=108;ESP6500_EA_AC=4216,4384;ESP6500_EA_AGE=570.1+/-389.3;ESP6500_EA_GTC=1035,2146,1119;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007366.4:missense,NM_001195641.1:missense,NM_001007267.2:missense;ESP6500_GL=PLA2R1;ESP6500_GRCh38_POSITION=2:159951564;ESP6500_GS=56,56,56;ESP6500_GTC=1055,2574,2874;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_007366.4:c.3316G>A,NM_001195641.1:c.3316G>A,NM_001007267.2:c.3316G>A;ESP6500_HGVS_PROTEIN_VAR=NM_007366.4:p.(G1106S),NM_001195641.1:p.(G1106S),NM_001007267.2:p.(G1106S);ESP6500_MAF=49.0233,10.6219,36.0141;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=4684,8322	GT:AD:DP:GQ:PL	0/1:15,18:33:99:488,0,403
chr2	159976677	rs2715918	A	G	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.328;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.25;ReadPosRankSum=-0.792;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2715918;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|16/29|c.2437+8T>C||||||,G|splice_region_variant&intron_variant|LOW|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|16/29|c.2437+8T>C||||||,G|splice_region_variant&intron_variant|LOW|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|16/26|c.2437+8T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4106;p3_1000G_AF=0.819888;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=18320;p3_1000G_EAS_AF=0.8611;p3_1000G_EUR_AF=0.828;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160833188;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6247;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3889,517;ESP6500_AA_AGE=238.4+/-249.8;ESP6500_AA_GTC=1722,445,36;ESP6500_CDS_SIZES=NM_007366.4:4392,NM_001195641.1:4386,NM_001007267.2:3975;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=73;ESP6500_EA_AC=7154,1446;ESP6500_EA_AGE=276.3+/-292.2;ESP6500_EA_GTC=2986,1182,132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007366.4:intron,NM_001195641.1:intron,NM_001007267.2:intron;ESP6500_GL=PLA2R1;ESP6500_GRCh38_POSITION=2:159976677;ESP6500_GTC=4708,1627,168;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007366.4:c.2437+8T>C,NM_001195641.1:c.2437+8T>C,NM_001007267.2:c.2437+8T>C;ESP6500_MAF=16.814,11.734,15.093;ESP6500_TAC=11043,1963	GT:AD:DP:GQ:PL	0/1:4,3:7:65:65,0,102
chr2	159983859	rs397986460;rs5835784	AC	A	16.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.36;ReadPosRankSum=0.524;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5835784;dbSNPBuildID=126,138;ANN=A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|13/29|c.2183+68delG||||||,A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|13/29|c.2183+68delG||||||,A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|13/26|c.2183+68delG||||||;p3_1000G_AA=CCCC|CCCC|CCC|deletion;p3_1000G_AC=2594;p3_1000G_AF=0.517971;p3_1000G_AFR_AF=0.1399;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=16280;p3_1000G_EAS_AF=0.625;p3_1000G_EUR_AF=0.7634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160840370;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=INDEL;ESP6500_AA_AC=990,3070;ESP6500_AA_GTC=175,640,1215;ESP6500_CDS_SIZES=NM_007366.4:4392,NM_001195641.1:4386,NM_001007267.2:3975;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=30;ESP6500_EA_AC=6281,1889;ESP6500_EA_GTC=2465,1351,269;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007366.4:intron,NM_001195641.1:intron,NM_001007267.2:intron;ESP6500_GL=PLA2R1;ESP6500_GRCh38_POSITION=2:159983859;ESP6500_GTC=2640,1991,1484;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_007366.4:c.2183+68del1,NM_001195641.1:c.2183+68del1,NM_001007267.2:c.2183+68del1;ESP6500_MAF=23.1212,24.3842,40.5478;ESP6500_TAC=7271,4959	GT:AD:DP:GQ:PL	0/1:3,2:5:54:54,0,86
chr2	160005583	rs2667004	G	A	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.944;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-1.227;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2667004;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|11/29|c.1834+69C>T||||||,A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|11/29|c.1834+69C>T||||||,A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|11/26|c.1834+69C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2293;p3_1000G_AF=0.457867;p3_1000G_AFR_AF=0.3941;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=17151;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.5855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160862094;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:199,0,183
chr2	160016510	rs2715939	G	A	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.77;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=0.191;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2715939;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|9/29|c.1551+104C>T||||||,A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|9/29|c.1551+104C>T||||||,A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|9/26|c.1551+104C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3518;p3_1000G_AF=0.702476;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=14685;p3_1000G_EAS_AF=0.8552;p3_1000G_EUR_AF=0.7465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160873021;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:78:78,0,253
chr2	160016759	rs2667040	A	G	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.379;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=1.94;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2667040;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|8/29|c.1453-47T>C||||||,G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|8/29|c.1453-47T>C||||||,G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|8/26|c.1453-47T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3519;p3_1000G_AF=0.702676;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=20043;p3_1000G_EAS_AF=0.8552;p3_1000G_EUR_AF=0.7465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160873270;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2773,1633;ESP6500_AA_AGE=484.0+/-359.9;ESP6500_AA_GTC=875,1023,305;ESP6500_CDS_SIZES=NM_007366.4:4392,NM_001195641.1:4386,NM_001007267.2:3975;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=31;ESP6500_EA_AC=6525,2073;ESP6500_EA_AGE=346.8+/-326.3;ESP6500_EA_GTC=2485,1555,259;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007366.4:intron,NM_001195641.1:intron,NM_001007267.2:intron;ESP6500_GL=PLA2R1;ESP6500_GRCh38_POSITION=2:160016759;ESP6500_GTC=3360,2578,564;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007366.4:c.1453-47T>C,NM_001195641.1:c.1453-47T>C,NM_001007267.2:c.1453-47T>C;ESP6500_MAF=24.1103,37.0631,28.4989;ESP6500_TAC=9298,3706	GT:AD:DP:GQ:PL	0/1:6,4:10:99:106,0,164
chr2	160016783	rs3833577;rs398104911	T	TA	107.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.803;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.204;SOR=0.105;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3833577;dbSNPBuildID=107,138;ANN=TA|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|8/29|c.1453-72dupT||||||,TA|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|8/29|c.1453-72dupT||||||,TA|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|8/26|c.1453-72dupT||||||;p3_1000G_AC=2970;p3_1000G_AF=0.593051;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=18902;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.6541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160873294;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,6:10:91:145,0,91
chr2	160020316	rs1511213	A	G	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.103;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=1.04;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1511213;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|7/29|c.1295-53T>C||||||,G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|7/29|c.1295-53T>C||||||,G|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|7/26|c.1295-53T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3518;p3_1000G_AF=0.702476;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=20645;p3_1000G_EAS_AF=0.8552;p3_1000G_EUR_AF=0.7465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160876827;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5992;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,12:16:99:310,0,104
chr2	160028907	rs35771982	G	C	1042.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.778;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=2.606;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.78;SOR=0.553;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35771982;dbSNPBuildID=126;ANN=C|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|5/30|c.898C>G|p.His300Asp|1110/5633|898/4392|300/1463||,C|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|5/30|c.898C>G|p.His300Asp|1110/5627|898/4386|300/1461||,C|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|5/27|c.898C>G|p.His300Asp|1110/5165|898/3975|300/1324||;p3_1000G_AA=G|||;p3_1000G_AC=1257;p3_1000G_AF=0.250998;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=19325;p3_1000G_EAS_AF=0.3532;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160885418;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=442,3964;ESP6500_AA_AGE=213.1+/-232.8;ESP6500_AA_GTC=23,396,1784;ESP6500_CDS_SIZES=NM_007366.4:4392,NM_001195641.1:4386,NM_001007267.2:3975;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=105;ESP6500_EA_AC=4200,4400;ESP6500_EA_AGE=569.8+/-389.2;ESP6500_EA_GTC=1057,2086,1157;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007366.4:missense,NM_001195641.1:missense,NM_001007267.2:missense;ESP6500_GL=PLA2R1;ESP6500_GRCh38_POSITION=2:160028907;ESP6500_GS=81,81,81;ESP6500_GTC=1080,2482,2941;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007366.4:c.898C>G,NM_001195641.1:c.898C>G,NM_001007267.2:c.898C>G;ESP6500_HGVS_PROTEIN_VAR=NM_007366.4:p.(H300D),NM_001195641.1:p.(H300D),NM_001007267.2:p.(H300D);ESP6500_MAF=48.8372,10.0318,35.6912;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=4642,8364	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1071,0,1401
chr2	160028931	rs3749117	T	C	1043.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.258;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749117;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|5/30|c.874A>G|p.Met292Val|1086/5633|874/4392|292/1463||,C|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|5/30|c.874A>G|p.Met292Val|1086/5627|874/4386|292/1461||,C|missense_variant|MODERATE|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|5/27|c.874A>G|p.Met292Val|1086/5165|874/3975|292/1324||;p3_1000G_AA=T|||;p3_1000G_AC=1287;p3_1000G_AF=0.256989;p3_1000G_AFR_AF=0.0552;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=19362;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.4742;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160885442;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=534,3872;ESP6500_AA_AGE=243.1+/-252.9;ESP6500_AA_GTC=31,472,1700;ESP6500_CDS_SIZES=NM_007366.4:4392,NM_001195641.1:4386,NM_001007267.2:3975;ESP6500_CG=4.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=94;ESP6500_EA_AC=4212,4388;ESP6500_EA_AGE=570.2+/-389.3;ESP6500_EA_GTC=1062,2088,1150;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007366.4:missense,NM_001195641.1:missense,NM_001007267.2:missense;ESP6500_GL=PLA2R1;ESP6500_GRCh38_POSITION=2:160028931;ESP6500_GS=21,21,21;ESP6500_GTC=1093,2560,2850;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007366.4:c.874A>G,NM_001195641.1:c.874A>G,NM_001007267.2:c.874A>G;ESP6500_HGVS_PROTEIN_VAR=NM_007366.4:p.(M292V),NM_001195641.1:p.(M292V),NM_001007267.2:p.(M292V);ESP6500_MAF=48.9767,12.1198,36.4909;ESP6500_PH=benign:0.002,benign:0.002,benign:0.002;ESP6500_TAC=4746,8260	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1072,0,1139
chr2	160033162	rs2203053	G	A	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.175;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2203053;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|3/29|c.668-30C>T||||||,A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|3/29|c.668-30C>T||||||,A|intron_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|3/26|c.668-30C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2247;p3_1000G_AF=0.448682;p3_1000G_AFR_AF=0.2935;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=17961;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.6133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160889673;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1555,2851;ESP6500_AA_AGE=658.7+/-400.4;ESP6500_AA_GTC=269,1017,917;ESP6500_CDS_SIZES=NM_007366.4:4392,NM_001195641.1:4386,NM_001007267.2:3975;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=43;ESP6500_EA_AC=5381,3219;ESP6500_EA_AGE=476.8+/-369.5;ESP6500_EA_GTC=1702,1977,621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007366.4:intron,NM_001195641.1:intron,NM_001007267.2:intron;ESP6500_GL=PLA2R1;ESP6500_GRCh38_POSITION=2:160033162;ESP6500_GTC=1971,2994,1538;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007366.4:c.668-30C>T,NM_001195641.1:c.668-30C>T,NM_001007267.2:c.668-30C>T;ESP6500_MAF=37.4302,35.2928,46.6708;ESP6500_TAC=6936,6070	GT:AD:DP:GQ:PL	0/1:5,5:10:98:169,0,98
chr2	160045006	rs4665143	A	G	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.43;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=0.809;SOR=0.97;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4665143;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|2/30|c.261T>C|p.Ser87Ser|473/5633|261/4392|87/1463||,G|synonymous_variant|LOW|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|2/30|c.261T>C|p.Ser87Ser|473/5627|261/4386|87/1461||,G|synonymous_variant|LOW|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|2/27|c.261T>C|p.Ser87Ser|473/5165|261/3975|87/1324||;p3_1000G_AA=G|||;p3_1000G_AC=2290;p3_1000G_AF=0.457268;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=17561;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.6292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160901517;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=965,3441;ESP6500_AA_AGE=734.6+/-410.6;ESP6500_AA_GTC=102,761,1340;ESP6500_CDS_SIZES=NM_007366.4:4392,NM_001195641.1:4386,NM_001007267.2:3975;ESP6500_CG=-6.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=66;ESP6500_EA_AC=5455,3145;ESP6500_EA_AGE=478.0+/-369.8;ESP6500_EA_GTC=1742,1971,587;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007366.4:coding-synonymous,NM_001195641.1:coding-synonymous,NM_001007267.2:coding-synonymous;ESP6500_GL=PLA2R1;ESP6500_GRCh38_POSITION=2:160045006;ESP6500_GTC=1844,2732,1927;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007366.4:c.261T>C,NM_001195641.1:c.261T>C,NM_001007267.2:c.261T>C;ESP6500_HGVS_PROTEIN_VAR=NM_007366.4:p.(S87),NM_001195641.1:p.(S87),NM_001007267.2:p.(S87);ESP6500_MAF=36.5698,21.902,49.3618;ESP6500_TAC=6420,6586	GT:AD:DP:GQ:PL	0/1:39,16:55:99:460,0,1064
chr2	160062509	rs3749119	C	T	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.68;ReadPosRankSum=-1.368;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749119;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|1/30|c.-106G>A|||||106|,T|5_prime_UTR_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|1/30|c.-106G>A|||||106|,T|5_prime_UTR_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|1/27|c.-106G>A|||||106|;p3_1000G_AA=C|||;p3_1000G_AC=975;p3_1000G_AF=0.194688;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=11689;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160919020;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1462;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,3:7:68:0|1:160062509_C_T:68,0,130
chr2	160062529	rs11285500;rs796312512	AC	A	183.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=1.329;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11285500;dbSNPBuildID=126,146;ANN=A|5_prime_UTR_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_007366.4|protein_coding|1/30|c.-127delG|||||127|,A|5_prime_UTR_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001195641.1|protein_coding|1/30|c.-127delG|||||127|,A|5_prime_UTR_variant|MODIFIER|PLA2R1|PLA2R1|transcript|NM_001007267.2|protein_coding|1/27|c.-127delG|||||127|	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:160062509_C_T:221,18,0
chr2	160101838	rs201103445;rs5835793;218474	GAA	G	395.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33;SOR=1.765;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs201103445,rs5835793;dbSNPBuildID=137,130;ANN=G|splice_region_variant&intron_variant|LOW|ITGB6|ITGB6|transcript|NM_000888.4|protein_coding|14/14|c.2269-6_2269-5delTT||||||,G|splice_region_variant&intron_variant|LOW|ITGB6|ITGB6|transcript|NM_001282353.1|protein_coding|15/15|c.2269-6_2269-5delTT||||||,G|splice_region_variant&intron_variant|LOW|ITGB6|ITGB6|transcript|NM_001282354.1|protein_coding|12/12|c.1984-6_1984-5delTT||||||,G|splice_region_variant&intron_variant|LOW|ITGB6|ITGB6|transcript|NM_001282355.1|protein_coding|12/12|c.1948-6_1948-5delTT||||||,G|splice_region_variant&intron_variant|LOW|ITGB6|ITGB6|transcript|NM_001282388.1|protein_coding|13/13|c.2143-6_2143-5delTT||||||,G|splice_region_variant&intron_variant|LOW|ITGB6|ITGB6|transcript|NM_001282389.1|protein_coding|14/14|c.2050-6_2050-5delTT||||||,G|splice_region_variant&intron_variant|LOW|ITGB6|ITGB6|transcript|NM_001282390.1|protein_coding|13/13|c.1855-6_1855-5delTT||||||;CLINVAR_AF_EXAC=0.00806;CLINVAR_ALLELEID=215222;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.160101839_160101840delAA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=ITGB6:3694;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=0;CLINVAR_RS=201103445	GT:AD:DP:GQ:PL	1/1:0,11:11:32:390,32,0
chr2	160112117	rs16844790	A	G	841.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.227;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0.915;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.16;SOR=0.8;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16844790;dbSNPBuildID=123;ANN=G|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_000888.4|protein_coding|13/15|c.2064T>C|p.Asn688Asn|2314/4687|2064/2367|688/788||,G|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282353.1|protein_coding|14/16|c.2064T>C|p.Asn688Asn|2207/4580|2064/2367|688/788||,G|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282354.1|protein_coding|11/13|c.1779T>C|p.Asn593Asn|2029/4402|1779/2082|593/693||,G|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282355.1|protein_coding|11/13|c.1743T>C|p.Asn581Asn|1993/4366|1743/2046|581/681||,G|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282388.1|protein_coding|12/14|c.1938T>C|p.Asn646Asn|2234/4607|1938/2241|646/746||,G|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282389.1|protein_coding|13/15|c.1845T>C|p.Asn615Asn|2141/4514|1845/2148|615/715||,G|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282390.1|protein_coding|12/14|c.1650T>C|p.Asn550Asn|2061/4434|1650/1953|550/650||;p3_1000G_AA=A|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=18655;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.1551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160968628;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=927,3479;ESP6500_AA_AGE=355.4+/-313.0;ESP6500_AA_GTC=96,735,1372;ESP6500_CDS_SIZES=NM_000888.3:2367;ESP6500_CG=-6.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=206;ESP6500_EA_AC=1501,7099;ESP6500_EA_AGE=283.6+/-296.2;ESP6500_EA_GTC=144,1213,2943;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000888.3:coding-synonymous;ESP6500_GL=ITGB6;ESP6500_GRCh38_POSITION=2:160112117;ESP6500_GTC=240,1948,4315;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000888.3:c.2064T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000888.3:p.(N688);ESP6500_MAF=17.4535,21.0395,18.6683;ESP6500_TAC=2428,10578	GT:AD:DP:GQ:PL	0/1:31,39:70:99:870,0,758
chr2	160112232	rs66470452	CA	C	806.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.68;SOR=4.003;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66470452;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_000888.4|protein_coding|12/14|c.1982-34delT||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282353.1|protein_coding|13/15|c.1982-34delT||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282354.1|protein_coding|10/12|c.1697-34delT||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282355.1|protein_coding|10/12|c.1661-34delT||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282388.1|protein_coding|11/13|c.1856-34delT||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282389.1|protein_coding|12/14|c.1763-34delT||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282390.1|protein_coding|11/13|c.1568-34delT||||||;p3_1000G_AA=AA|AA|A|deletion;p3_1000G_AC=2601;p3_1000G_AF=0.519369;p3_1000G_AFR_AF=0.3585;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=21051;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.6581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160968743;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=INDEL;ESP6500_AA_AC=1765,2501;ESP6500_AA_GTC=368,1029,736;ESP6500_CDS_SIZES=NM_000888.3:2367;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=51;ESP6500_EA_AC=5553,2701;ESP6500_EA_GTC=1890,1773,464;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000888.3:intron;ESP6500_GL=ITGB6;ESP6500_GRCh38_POSITION=2:160112232;ESP6500_GTC=2258,2802,1200;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000888.3:c.1982-34del1;ESP6500_MAF=32.7235,41.3737,41.5495;ESP6500_TAC=7318,5202	GT:AD:DP:GQ:PL	1/1:0,23:23:69:844,69,0
chr2	160126549	rs2305819	G	C	951.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.905;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=4.931;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.487;SOR=0.717;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305819;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_000888.4|protein_coding|11/15|c.1713C>G|p.Gly571Gly|1963/4687|1713/2367|571/788||,C|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282353.1|protein_coding|12/16|c.1713C>G|p.Gly571Gly|1856/4580|1713/2367|571/788||,C|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282354.1|protein_coding|9/13|c.1428C>G|p.Gly476Gly|1678/4402|1428/2082|476/693||,C|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282388.1|protein_coding|10/14|c.1587C>G|p.Gly529Gly|1883/4607|1587/2241|529/746||,C|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282389.1|protein_coding|11/15|c.1494C>G|p.Gly498Gly|1790/4514|1494/2148|498/715||,C|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282390.1|protein_coding|10/14|c.1299C>G|p.Gly433Gly|1710/4434|1299/1953|433/650||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282355.1|protein_coding|10/12|c.1660+10885C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=750;p3_1000G_AF=0.14976;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=16349;p3_1000G_EAS_AF=0.3185;p3_1000G_EUR_AF=0.173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=160983060;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=156,4250;ESP6500_AA_AGE=105.2+/-143.6;ESP6500_AA_GTC=1,154,2048;ESP6500_CDS_SIZES=NM_000888.3:2367;ESP6500_CG=-3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=1403,7197;ESP6500_EA_AGE=270.9+/-289.3;ESP6500_EA_GTC=110,1183,3007;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000888.3:coding-synonymous;ESP6500_GL=ITGB6;ESP6500_GRCh38_POSITION=2:160126549;ESP6500_GTC=111,1337,5055;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000888.3:c.1713C>G;ESP6500_HGVS_PROTEIN_VAR=NM_000888.3:p.(G571);ESP6500_MAF=16.314,3.5406,11.9868;ESP6500_TAC=1559,11447	GT:AD:DP:GQ:PL	0/1:29,36:65:99:980,0,810
chr2	160172481	rs1037694	T	C	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=2.26;SOR=3.056;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1037694;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_000888.4|protein_coding|6/14|c.921+88A>G||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282353.1|protein_coding|7/15|c.921+88A>G||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282354.1|protein_coding|4/12|c.636+88A>G||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282355.1|protein_coding|6/12|c.921+88A>G||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282388.1|protein_coding|5/13|c.795+88A>G||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282389.1|protein_coding|6/14|c.702+88A>G||||||,C|intron_variant|MODIFIER|ITGB6|ITGB6|transcript|NM_001282390.1|protein_coding|5/13|c.507+88A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3050;p3_1000G_AF=0.609026;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=23639;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161028992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:183,0,106
chr2	160172707	rs2305818	G	A	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.362;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.35;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305818;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_000888.4|protein_coding|6/15|c.783C>T|p.Asp261Asp|1033/4687|783/2367|261/788||,A|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282353.1|protein_coding|7/16|c.783C>T|p.Asp261Asp|926/4580|783/2367|261/788||,A|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282354.1|protein_coding|4/13|c.498C>T|p.Asp166Asp|748/4402|498/2082|166/693||,A|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282355.1|protein_coding|6/13|c.783C>T|p.Asp261Asp|1033/4366|783/2046|261/681||,A|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282388.1|protein_coding|5/14|c.657C>T|p.Asp219Asp|953/4607|657/2241|219/746||,A|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282389.1|protein_coding|6/15|c.564C>T|p.Asp188Asp|860/4514|564/2148|188/715||,A|synonymous_variant|LOW|ITGB6|ITGB6|transcript|NM_001282390.1|protein_coding|5/14|c.369C>T|p.Asp123Asp|780/4434|369/1953|123/650||;p3_1000G_AA=G|||;p3_1000G_AC=1144;p3_1000G_AF=0.228435;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=17071;p3_1000G_EAS_AF=0.3323;p3_1000G_EUR_AF=0.4225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161029218;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=413,3993;ESP6500_AA_AGE=200.8+/-224.0;ESP6500_AA_GTC=14,385,1804;ESP6500_CDS_SIZES=NM_000888.3:2367;ESP6500_CG=-5.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=123;ESP6500_EA_AC=3499,5101;ESP6500_EA_AGE=512.2+/-377.9;ESP6500_EA_GTC=740,2019,1541;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000888.3:coding-synonymous;ESP6500_GL=ITGB6;ESP6500_GRCh38_POSITION=2:160172707;ESP6500_GTC=754,2404,3345;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000888.3:c.783C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000888.3:p.(D261);ESP6500_MAF=40.686,9.3736,30.0784;ESP6500_TAC=3912,9094	GT:AD:DP:GQ:PL	0/1:10,15:25:99:414,0,274
chr2	160275782	rs57047289	T	C	201.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.375;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.881;SOR=0.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57047289;dbSNPBuildID=129;ANN=C|upstream_gene_variant|MODIFIER|LOC100505984|LOC100505984|transcript|NR_103775.1|pseudogene||n.-3887A>G|||||3887|,C|intron_variant|MODIFIER|RBMS1|RBMS1|transcript|NM_016836.3|protein_coding|12/13|c.1144-68A>G||||||,C|intron_variant|MODIFIER|RBMS1|RBMS1|transcript|NM_002897.4|protein_coding|12/13|c.1135-68A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=613;p3_1000G_AF=0.122404;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=20252;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.1352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=161132293;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,10:23:99:230,0,330
chr2	161203458	rs11884495	A	T	558.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.602;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-1.567;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11884495;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|TANK|TANK|transcript|NM_001199135.1|protein_coding|2/7|c.100-29A>T||||||,T|intron_variant|MODIFIER|TANK|TANK|transcript|NM_133484.1|protein_coding|2/3|c.100-29A>T||||||,T|intron_variant|MODIFIER|TANK|TANK|transcript|NM_004180.2|protein_coding|2/7|c.100-29A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2089;p3_1000G_AF=0.417133;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=18602;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.4642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162059969;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1332,3074;ESP6500_AA_AGE=444.9+/-347.5;ESP6500_AA_GTC=194,944,1065;ESP6500_CDS_SIZES=NM_133484.1:360,NM_004180.2:1278,NM_001199135.1:1278;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=94;ESP6500_EA_AC=4168,4432;ESP6500_EA_AGE=565.7+/-388.5;ESP6500_EA_GTC=1004,2160,1136;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133484.1:intron,NM_004180.2:intron,NM_001199135.1:intron;ESP6500_GL=TANK;ESP6500_GRCh38_POSITION=2:161203458;ESP6500_GTC=1198,3104,2201;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_133484.1:c.100-29A>T,NM_004180.2:c.100-29A>T,NM_001199135.1:c.100-29A>T;ESP6500_MAF=48.4651,30.2315,42.2882;ESP6500_TAC=5500,7506	GT:AD:DP:GQ:PL	0/1:12,24:36:99:587,0,264
chr2	161235325	rs3754970	T	C	541.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.98;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=3.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.174;SOR=1.708;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754970;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TANK|TANK|transcript|NM_001199135.1|protein_coding|7/7|c.1102-17T>C||||||,C|intron_variant|MODIFIER|LOC101929512|LOC101929512|transcript|NR_110593.1|pseudogene|3/3|n.349-11842A>G||||||,C|intron_variant|MODIFIER|TANK|TANK|transcript|NM_004180.2|protein_coding|7/7|c.1102-17T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2091;p3_1000G_AF=0.417532;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=16989;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162091836;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1334,3072;ESP6500_AA_AGE=442.7+/-346.8;ESP6500_AA_GTC=194,946,1063;ESP6500_CDS_SIZES=NM_004180.2:1278,NM_001199135.1:1278;ESP6500_CG=4.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=114;ESP6500_EA_AC=4229,4371;ESP6500_EA_AGE=568.1+/-389.0;ESP6500_EA_GTC=1036,2157,1107;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004180.2:intron,NM_001199135.1:intron;ESP6500_GL=TANK;ESP6500_GRCh38_POSITION=2:161235325;ESP6500_GTC=1230,3103,2170;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004180.2:c.1102-17T>C,NM_001199135.1:c.1102-17T>C;ESP6500_MAF=49.1744,30.2769,42.7726;ESP6500_TAC=5563,7443	GT:AD:DP:GQ:PL	0/1:19,19:38:99:570,0,443
chr2	161318779	rs1116165	T	C	860.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1116165;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PSMD14|PSMD14|transcript|NM_005805.5|protein_coding|2/11|c.-4-43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5002;p3_1000G_AF=0.998802;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18125;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162175290;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:889,84,0
chr2	161367682	rs397731806;rs58162668	G	GT	438.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=0.818;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs58162668;dbSNPBuildID=135,138;ANN=GT|intron_variant|MODIFIER|PSMD14|PSMD14|transcript|NM_005805.5|protein_coding|4/11|c.121-97dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTT|TTTTT|TTTTTT|deletion;p3_1000G_AC=4597;p3_1000G_AF=0.917931;p3_1000G_AFR_AF=0.9614;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=18356;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.8509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162224193;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.864;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:476,45,0
chr2	161367984	rs2303318	A	C	497.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=-1.108;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303318;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PSMD14|PSMD14|transcript|NM_005805.5|protein_coding|5/11|c.240+81A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1084;p3_1000G_AF=0.216454;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=18948;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.1054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162224495;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,15:22:99:526,0,172
chr2	161385335	rs62188123	T	C	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.97;ReadPosRankSum=-0.566;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62188123;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|PSMD14|PSMD14|transcript|NM_005805.5|protein_coding|7/11|c.463-129T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=989;p3_1000G_AF=0.197484;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=13931;p3_1000G_EAS_AF=0.3016;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162241846;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:54:182,0,54
chr2	161391261	rs1921674	C	T	51.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1921674;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|PSMD14|PSMD14|transcript|NM_005805.5|protein_coding|9/11|c.645+83C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4292;p3_1000G_AF=0.857029;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=15236;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.7863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162247772;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8078;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:79,9,0
chr2	161408759	rs16845844	A	G	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.81;ReadPosRankSum=-1.139;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16845844;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|PSMD14|PSMD14|transcript|NM_005805.5|protein_coding|10/11|c.772-78A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1141;p3_1000G_AF=0.227835;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=17605;p3_1000G_EAS_AF=0.3026;p3_1000G_EUR_AF=0.1034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162265270;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:254,0,107
chr2	161424237	rs890076	G	A	1425.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=1.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs890076;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|TBR1|TBR1|transcript|NM_006593.3|protein_coding|6/6|c.*10G>A|||||10|;p3_1000G_AA=G|||;p3_1000G_AC=3799;p3_1000G_AF=0.758586;p3_1000G_AFR_AF=0.5484;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=8196;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162280748;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2615,1409;ESP6500_AA_GTC=876,863,273;ESP6500_CDS_SIZES=NM_006593.2:2049;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=7;ESP6500_EA_AC=7060,1218;ESP6500_EA_GTC=3040,980,119;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006593.2:utr-3;ESP6500_GL=TBR1;ESP6500_GRCh38_POSITION=2:161424237;ESP6500_GTC=3916,1843,392;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006593.2:c.*10G>A;ESP6500_MAF=14.7137,35.0149,21.3543;ESP6500_TAC=9675,2627	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1454,141,0
chr2	161503472	rs12620974	T	C	2198.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=1.41;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12620974;dbSNPBuildID=120;ANN=C|non_coding_transcript_exon_variant|MODIFIER|AHCTF1P1|AHCTF1P1|transcript|NR_077058.1|pseudogene|1/1|n.4431A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4770;p3_1000G_AF=0.952476;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=20897;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.9026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162359983;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2227,201,0
chr2	161873802	rs35292746	T	C	346.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.68;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35292746;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|SLC4A10|SLC4A10|transcript|NM_001178015.1|protein_coding|7/26|c.859-114T>C||||||,C|intron_variant|MODIFIER|SLC4A10|SLC4A10|transcript|NM_001178016.1|protein_coding|8/26|c.891+1418T>C||||||,C|intron_variant|MODIFIER|SLC4A10|SLC4A10|transcript|NM_022058.3|protein_coding|7/25|c.858+1418T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2898;p3_1000G_AF=0.578674;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=18329;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.5646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162730312;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5368;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:375,30,0
chr2	161993434	rs397977835;rs571139931	T	TA	300.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.91;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=0.124;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs57794116;dbSNPBuildID=142,138;ANN=TA|intron_variant|MODIFIER|DPP4|DPP4|transcript|NM_001935.3|protein_coding|25/25|c.2200-51dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=745;p3_1000G_AF=0.148762;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=17906;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.0298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162849944;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,13:14:32:338,32,0
chr2	162018967	rs35605823;rs397869153;rs762172902	C	CT	209.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.96;SOR=2.494;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35605823;dbSNPBuildID=144,137,138;ANN=CT|intron_variant|MODIFIER|DPP4|DPP4|transcript|NM_001935.3|protein_coding|15/25|c.1299-118dupA||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:14:210,14,0
chr2	162019131	rs140360804	ATTAG	A	272.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.19;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs140360804;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|DPP4|DPP4|transcript|NM_001935.3|protein_coding|15/25|c.1298+88_1298+91delCTAA||||||;p3_1000G_AC=537;p3_1000G_AF=0.107228;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=15642;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162875641;p3_1000G_GRCH37_REF=ATTAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:310,21,0
chr2	162020303	rs760191986	GTT	G	634.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|splice_region_variant&intron_variant|LOW|DPP4|DPP4|transcript|NM_001935.3|protein_coding|13/25|c.1177-9_1177-8delAA||||||	GT:AD:DP:GQ:PL	1/1:0,19:19:57:672,57,0
chr2	162020318	rs35175377;rs540682017	CA	C	231.14	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.229;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=0.548;SOR=1.981;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35175377;dbSNPBuildID=142,126;ANN=C|intron_variant|MODIFIER|DPP4|DPP4|transcript|NM_001935.3|protein_coding|13/25|c.1177-23delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.6581;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=13492;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.4185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162876828;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,12:14:10:268,0,10
chr2	162033665	rs1558957	T	C	729.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.73;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1558957;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|DPP4|DPP4|transcript|NM_001935.3|protein_coding|9/25|c.775-12A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3998;p3_1000G_AF=0.798323;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=12149;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162890175;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4074,332;ESP6500_AA_AGE=170.1+/-200.6;ESP6500_AA_GTC=1885,304,14;ESP6500_CDS_SIZES=NM_001935.3:2301;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=56;ESP6500_EA_AC=5156,3444;ESP6500_EA_AGE=501.0+/-375.3;ESP6500_EA_GTC=1545,2066,689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001935.3:intron;ESP6500_GL=DPP4;ESP6500_GRCh38_POSITION=2:162033665;ESP6500_GTC=3430,2370,703;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001935.3:c.775-12A>G;ESP6500_MAF=40.0465,7.5352,29.0328;ESP6500_TAC=9230,3776	GT:AD:DP:GQ:PL	1/1:0,23:23:69:758,69,0
chr2	162035338	rs6432708	C	T	730.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6432708;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|DPP4|DPP4|transcript|NM_001935.3|protein_coding|8/25|c.614-14G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4002;p3_1000G_AF=0.799121;p3_1000G_AFR_AF=0.9834;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=18682;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.6332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162891848;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4084,322;ESP6500_AA_AGE=168.0+/-198.9;ESP6500_AA_GTC=1895,294,14;ESP6500_CDS_SIZES=NM_001935.3:2301;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=69;ESP6500_EA_AC=5158,3442;ESP6500_EA_AGE=505.6+/-376.4;ESP6500_EA_GTC=1547,2064,689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001935.3:intron;ESP6500_GL=DPP4;ESP6500_GRCh38_POSITION=2:162035338;ESP6500_GTC=3442,2358,703;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001935.3:c.614-14G>A;ESP6500_MAF=40.0233,7.3082,28.9405;ESP6500_TAC=9242,3764	GT:AD:DP:GQ:PL	1/1:0,25:25:75:759,75,0
chr2	162047273	rs149913490	GA	G	115.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.3;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs149913490;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|DPP4|DPP4|transcript|NM_001935.3|protein_coding|3/25|c.193+129delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=566;p3_1000G_AF=0.113019;p3_1000G_AFR_AF=0.0393;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=17036;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162903783;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:153,18,0
chr2	162073776	rs3216773;rs374227732;rs747107261;rs770998215	CGCCAGGGTCCTAGCAGAA	C	355.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.23;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=0.846;SOR=0.804;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3216773,rs374227732;dbSNPBuildID=106,144,144,138;ANN=C|intron_variant|MODIFIER|DPP4|DPP4|transcript|NM_001935.3|protein_coding|1/25|c.6+182_6+199delTTCTGCTAGGACCCTGGC||||||;p3_1000G_AC=1370;p3_1000G_AF=0.273562;p3_1000G_AFR_AF=0.2269;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=17376;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.2584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=162930286;p3_1000G_GRCH37_REF=CGCCAGGGTCCTAGCAGAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,10:19:99:393,0,1624
chr2	162149164	rs5645	G	A	1511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.49;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5645;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|GCG|GCG|transcript|NM_002054.4|protein_coding|2/6|c.15C>T|p.Tyr5Tyr|271/1294|15/543|5/180||,A|intron_variant|MODIFIER|LOC101929532|LOC101929532|transcript|NR_110255.1|pseudogene|1/3|n.93-12606G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=483;p3_1000G_AF=0.0964457;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=15449;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.0169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163005674;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=37,3667;ESP6500_AA_GTC=0,37,1815;ESP6500_CDS_SIZES=NM_002054.4:543;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=115;ESP6500_EA_AC=208,7990;ESP6500_EA_GTC=2,204,3893;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002054.4:coding-synonymous;ESP6500_GL=GCG;ESP6500_GRCh38_POSITION=2:162149164;ESP6500_GTC=2,241,5708;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002054.4:c.15C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002054.4:p.(Y5);ESP6500_MAF=2.5372,0.9989,2.0585;ESP6500_TAC=245,11657	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1540,162,0
chr2	162189180	rs752602628	GA	G	34.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.201;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.17;ReadPosRankSum=2.45;SOR=0.269;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|FAP|FAP|transcript|NM_004460.3|protein_coding|18/25|c.1550-9delT||||||,G|intron_variant|MODIFIER|FAP|FAP|transcript|NM_001291807.1|protein_coding|17/24|c.1475-9delT||||||	GT:AD:DP:GQ:PL	0/1:12,4:16:72:72,0,294
chr2	162198214	rs4664452	C	T	488.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.443;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.184;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4664452;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|FAP|FAP|transcript|NM_004460.3|protein_coding|16/25|c.1402+543G>A||||||,T|intron_variant|MODIFIER|FAP|FAP|transcript|NM_001291807.1|protein_coding|15/24|c.1327+543G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=859;p3_1000G_AF=0.171526;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=18885;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163054724;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,20:38:99:517,0,618
chr2	162214086	rs6735909	T	A	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.5;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=1.18;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6735909;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FAP|FAP|transcript|NM_004460.3|protein_coding|10/25|c.867-13A>T||||||,A|intron_variant|MODIFIER|FAP|FAP|transcript|NM_001291807.1|protein_coding|9/24|c.792-13A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=357;p3_1000G_AF=0.0712859;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=18103;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163070596;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=25,4381;ESP6500_AA_AGE=27.2+/-55.0;ESP6500_AA_GTC=0,25,2178;ESP6500_CDS_SIZES=NM_004460.2:2283;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=46;ESP6500_EA_AC=115,8485;ESP6500_EA_AGE=55.2+/-116.2;ESP6500_EA_GTC=0,115,4185;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004460.2:intron;ESP6500_GL=FAP;ESP6500_GRCh38_POSITION=2:162214086;ESP6500_GTC=0,140,6363;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004460.2:c.867-13A>T;ESP6500_MAF=1.3372,0.5674,1.0764;ESP6500_TAC=140,12866	GT:AD:DP:GQ:PL	0/1:12,7:19:99:180,0,358
chr2	162221685	rs16846389	T	A	426.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.804;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16846389;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|FAP|FAP|transcript|NM_004460.3|protein_coding|6/25|c.414-1760A>T||||||,A|intron_variant|MODIFIER|FAP|FAP|transcript|NM_001291807.1|protein_coding|5/24|c.339-1760A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=358;p3_1000G_AF=0.0714856;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=17583;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163078195;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,21:37:99:455,0,379
chr2	162224472	rs16846391	A	G	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.577;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=4.607;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-0.876;SOR=0.86;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16846391;dbSNPBuildID=123;ANN=G|synonymous_variant|LOW|FAP|FAP|transcript|NM_004460.3|protein_coding|5/26|c.354T>C|p.Tyr118Tyr|562/2786|354/2283|118/760||,G|intron_variant|MODIFIER|FAP|FAP|transcript|NM_001291807.1|protein_coding|4/24|c.286-812T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=359;p3_1000G_AF=0.0716853;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=15510;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163080982;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=26,4378;ESP6500_AA_AGE=29.9+/-59.1;ESP6500_AA_GTC=0,26,2176;ESP6500_CDS_SIZES=NM_004460.2:2283;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=73;ESP6500_EA_AC=113,8479;ESP6500_EA_AGE=59.1+/-120.7;ESP6500_EA_GTC=0,113,4183;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004460.2:coding-synonymous;ESP6500_GL=FAP;ESP6500_GRCh38_POSITION=2:162224472;ESP6500_GTC=0,139,6359;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004460.2:c.354T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004460.2:p.(Y118);ESP6500_MAF=1.3152,0.5904,1.0696;ESP6500_TAC=139,12857	GT:AD:DP:GQ:PL	0/1:25,17:42:99:380,0,668
chr2	162226640	rs16846396	T	C	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-1.522;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16846396;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|FAP|FAP|transcript|NM_004460.3|protein_coding|2/25|c.92-19A>G||||||,C|intron_variant|MODIFIER|FAP|FAP|transcript|NM_001291807.1|protein_coding|2/24|c.92-19A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=363;p3_1000G_AF=0.072484;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=15720;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163083150;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=45,4359;ESP6500_AA_AGE=770.2+/-413.7;ESP6500_AA_GTC=0,45,2157;ESP6500_CDS_SIZES=NM_004460.2:2283;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=37;ESP6500_EA_AC=114,8466;ESP6500_EA_AGE=797.4+/-407.4;ESP6500_EA_GTC=0,114,4176;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004460.2:intron;ESP6500_GL=FAP;ESP6500_GRCh38_POSITION=2:162226640;ESP6500_GTC=0,159,6333;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004460.2:c.92-19A>G;ESP6500_MAF=1.3287,1.0218,1.2246;ESP6500_TAC=159,12825	GT:AD:DP:GQ:PL	0/1:11,5:16:99:133,0,282
chr2	162242973	rs76564309	A	G	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.681;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.74;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.264;SOR=0.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76564309;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|FAP|FAP|transcript|NM_004460.3|protein_coding|2/26|c.26T>C|p.Phe9Ser|234/2786|26/2283|9/760||,G|missense_variant|MODERATE|FAP|FAP|transcript|NM_001291807.1|protein_coding|2/25|c.26T>C|p.Phe9Ser|234/2711|26/2208|9/735||;p3_1000G_AA=A|||;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20312;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163099483;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4,4402;ESP6500_AA_AGE=8.1+/-20.4;ESP6500_AA_GTC=0,4,2199;ESP6500_CDS_SIZES=NM_004460.2:2283;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=84;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004460.2:missense;ESP6500_GL=FAP;ESP6500_GRCh38_POSITION=2:162242973;ESP6500_GS=155;ESP6500_GTC=0,4,6499;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004460.2:c.26T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004460.2:p.(F9S);ESP6500_MAF=0.0,0.0908,0.0308;ESP6500_PH=benign:0.024;ESP6500_TAC=4,13002	GT:AD:DP:GQ:PL	0/1:10,12:22:99:288,0,216
chr2	162272215	rs3747518	A	G	365.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.848;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.042;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747518;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|IFIH1|IFIH1|transcript|NM_022168.3|protein_coding|13/15|c.2616+11T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=973;p3_1000G_AF=0.194289;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=20177;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163128725;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1815,2591;ESP6500_AA_AGE=624.3+/-394.3;ESP6500_AA_GTC=376,1063,764;ESP6500_CDS_SIZES=NM_022168.3:3078;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=67;ESP6500_EA_AC=121,8479;ESP6500_EA_AGE=801.7+/-407.4;ESP6500_EA_GTC=0,121,4179;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022168.3:intron;ESP6500_GL=IFIH1;ESP6500_GRCh38_POSITION=2:162272215;ESP6500_GTC=376,1184,4943;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022168.3:c.2616+11T>C;ESP6500_MAF=1.407,41.1938,14.8854;ESP6500_TAC=1936,11070	GT:AD:DP:GQ:PL	0/1:19,15:34:99:394,0,523
chr2	162272314	rs3747517;261565	T	C	710.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.361;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.007;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.126;SOR=0.768;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3747517;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|IFIH1|IFIH1|transcript|NM_022168.3|protein_coding|13/16|c.2528A>G|p.His843Arg|2929/3600|2528/3078|843/1025||;p3_1000G_AA=C|||;p3_1000G_AC=2954;p3_1000G_AF=0.589856;p3_1000G_AFR_AF=0.5764;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=19956;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.7505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163128824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2751,1655;ESP6500_AA_AGE=506.4+/-366.4;ESP6500_AA_GTC=869,1013,321;ESP6500_CDS_SIZES=NM_022168.3:3078;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=97;ESP6500_EA_AC=6244,2356;ESP6500_EA_AGE=393.3+/-344.3;ESP6500_EA_GTC=2269,1706,325;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022168.3:missense;ESP6500_GL=IFIH1;ESP6500_GRCh38_POSITION=2:162272314;ESP6500_GS=29;ESP6500_GTC=3138,2719,646;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022168.3:c.2528A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022168.3:p.(H843R);ESP6500_MAF=27.3953,37.5624,30.8396;ESP6500_PH=benign:0.0;ESP6500_TAC=8995,4011;CLINVAR_ALLELEID=250307;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.162272314T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q9BYX4#VAR_021594;CLINVAR_GENEINFO=IFIH1:64135;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3747517	GT:AD:DP:GQ:PL	0/1:27,30:57:99:739,0,628
chr2	162278348	rs191343755	T	G	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.714;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.049;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs191343755;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|IFIH1|IFIH1|transcript|NM_022168.3|protein_coding|8/15|c.1642-20A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17691;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163134858;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:353,0,359
chr2	162280217	rs2287293	G	C	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=1.83;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287293;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|IFIH1|IFIH1|transcript|NM_022168.3|protein_coding|7/15|c.1525-105C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=804;p3_1000G_AF=0.160543;p3_1000G_AFR_AF=0.3245;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=17271;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163136727;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:175,0,140
chr2	162281361	rs12479043	C	G	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.875;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.167;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12479043;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|IFIH1|IFIH1|transcript|NM_022168.3|protein_coding|7/16|c.1491G>C|p.Thr497Thr|1892/3600|1491/3078|497/1025||;p3_1000G_AA=C|||;p3_1000G_AC=804;p3_1000G_AF=0.160543;p3_1000G_AFR_AF=0.3245;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=18802;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.0109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163137871;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1383,3023;ESP6500_AA_AGE=456.3+/-351.3;ESP6500_AA_GTC=214,955,1034;ESP6500_CDS_SIZES=NM_022168.3:3078;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=131;ESP6500_EA_AC=126,8474;ESP6500_EA_AGE=62.8+/-124.8;ESP6500_EA_GTC=0,126,4174;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022168.3:coding-synonymous;ESP6500_GL=IFIH1;ESP6500_GRCh38_POSITION=2:162281361;ESP6500_GTC=214,1081,5208;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_022168.3:c.1491G>C;ESP6500_HGVS_PROTEIN_VAR=NM_022168.3:p.(T497);ESP6500_MAF=1.4651,31.389,11.6023;ESP6500_TAC=1509,11497	GT:AD:DP:GQ:PL	0/1:13,11:24:99:322,0,397
chr2	162281473	rs10930046	T	C	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.261;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=-1.214;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10930046;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|IFIH1|IFIH1|transcript|NM_022168.3|protein_coding|7/16|c.1379A>G|p.His460Arg|1780/3600|1379/3078|460/1025||;p3_1000G_AA=C|||;p3_1000G_AC=970;p3_1000G_AF=0.19369;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=18999;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163137983;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1828,2578;ESP6500_AA_AGE=636.9+/-396.7;ESP6500_AA_GTC=381,1066,756;ESP6500_CDS_SIZES=NM_022168.3:3078;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=116;ESP6500_EA_AC=122,8476;ESP6500_EA_AGE=813.4+/-407.0;ESP6500_EA_GTC=0,122,4177;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022168.3:missense;ESP6500_GL=IFIH1;ESP6500_GRCh38_POSITION=2:162281473;ESP6500_GS=29;ESP6500_GTC=381,1188,4933;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022168.3:c.1379A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022168.3:p.(H460R);ESP6500_MAF=1.4189,41.4889,14.9954;ESP6500_PH=benign:0.0;ESP6500_TAC=1950,11054	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,12:36:99:0|1:162281468_A_G:281,0,578
chr2	162282341	rs139992539;rs58630208;~rs58630208	T	TA	14.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=0.967;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs139992539,rs58630208;dbSNPBuildID=134,129;ANN=TA|intron_variant|MODIFIER|IFIH1|IFIH1|transcript|NM_022168.3|protein_coding|6/15|c.1306+24dupT||||||;p3_1000G_AA=AAAAAAA|AAAAAAA|AAAAAAAA|insertion;p3_1000G_AC=583;p3_1000G_AF=0.116414;p3_1000G_AFR_AF=0.171;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=14079;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163138851;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=INDEL;ESP6500_AA_AC=559,694,2725;ESP6500_AA_GTC=78,74,329,92,436,980;ESP6500_CDS_SIZES=NM_022168.3:3078,NM_022168.3:3078;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=18;ESP6500_EA_AC=3,108,8037;ESP6500_EA_GTC=0,0,3,0,108,3963;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022168.3:intron,NM_022168.3:intron;ESP6500_GL=IFIH1;ESP6500_GRCh38_POSITION=2:162282341;ESP6500_GTC=78,74,332,92,544,4943;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_022168.3:c.1306+24_1306+25insT,NM_022168.3:c.1306+24_1306+25insA;ESP6500_MAF=1.3623,31.4982,11.2486;ESP6500_TAC=562,802,10762	GT:AD:DP:GQ:PL	0/1:1,2:3:22:52,0,22
chr2	162319146	rs11897697	A	C	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.048;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-1.225;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11897697;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|IFIH1|IFIH1|transcript|NM_022168.3|protein_coding||c.-839T>G|||||438|,C|intergenic_region|MODIFIER|IFIH1-GCA|IFIH1-GCA|intergenic_region|IFIH1-GCA|||n.162319146A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=788;p3_1000G_AF=0.157348;p3_1000G_AFR_AF=0.3298;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=17840;p3_1000G_EAS_AF=0.1071;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163175656;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,12:18:99:350,0,181
chr2	162344168	rs7567026	T	C	1038.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.308;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.312;SOR=0.767;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7567026;dbSNPBuildID=116;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|GCA|GCA|transcript|NM_012198.3|protein_coding|1/8|c.-81T>C||||||,C|5_prime_UTR_variant|MODIFIER|GCA|GCA|transcript|NM_012198.3|protein_coding|1/8|c.-81T>C|||||81|;p3_1000G_AA=C|||;p3_1000G_AC=817;p3_1000G_AF=0.163139;p3_1000G_AFR_AF=0.3525;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=14461;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163200678;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=438,946;ESP6500_AA_GTC=72,294,326;ESP6500_CDS_SIZES=NM_012198.3:654;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=22;ESP6500_EA_AC=37,3145;ESP6500_EA_GTC=1,35,1555;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012198.3:utr-5;ESP6500_GL=GCA;ESP6500_GRCh38_POSITION=2:162344168;ESP6500_GTC=73,329,1881;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012198.3:c.-81T>C;ESP6500_MAF=1.1628,31.6474,10.403;ESP6500_TAC=475,4091	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1067,0,983
chr2	162344402	rs2241662	C	G	358.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.57;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-1.651;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241662;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|GCA|GCA|transcript|NM_012198.3|protein_coding|1/7|c.27+127C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=351;p3_1000G_AF=0.0700879;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=12294;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.0099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163200912;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0225;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,12:21:99:387,0,215
chr2	162359599	rs3213843	C	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=0;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213843;dbSNPBuildID=106;ANN=T|intron_variant|MODIFIER|GCA|GCA|transcript|NM_012198.3|protein_coding|7/7|c.627+47C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1023;p3_1000G_AF=0.204273;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=13554;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163216109;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2177,2225;ESP6500_AA_AGE=572.8+/-383.4;ESP6500_AA_GTC=557,1063,581;ESP6500_CDS_SIZES=NM_012198.3:654;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=61;ESP6500_EA_AC=58,8528;ESP6500_EA_AGE=807.2+/-407.2;ESP6500_EA_GTC=1,56,4236;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012198.3:intron;ESP6500_GL=GCA;ESP6500_GRCh38_POSITION=2:162359599;ESP6500_GTC=558,1119,4817;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012198.3:c.627+47C>T;ESP6500_MAF=0.6755,49.4548,17.2082;ESP6500_TAC=2235,10753	GT:AD:DP:GQ:PL	0/1:1,3:4:32:96,0,32
chr2	162360763	rs10713741	AT	A	235.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.282;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.235;SOR=0.551;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10713741;dbSNPBuildID=137;ANN=A|3_prime_UTR_variant|MODIFIER|GCA|GCA|transcript|NM_012198.3|protein_coding|8/8|c.*521delT|||||521|;p3_1000G_AA=T|T|-|deletion;p3_1000G_AC=245;p3_1000G_AF=0.0489217;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=13735;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163217273;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,8:17:99:273,0,312
chr2	162371339	rs78752321	C	T	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.594;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.8;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78752321;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|KCNH7|KCNH7|transcript|NM_033272.3|protein_coding||c.*490G>A|||||68|,T|intergenic_region|MODIFIER|GCA-KCNH7|GCA-KCNH7|intergenic_region|GCA-KCNH7|||n.162371339C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=111;p3_1000G_AF=0.0221645;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17320;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163227849;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,21:45:99:532,0,539
chr2	162373675	rs41464145	C	T	105.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.664;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.865;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=-1.172;SOR=2.012;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41464145;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|KCNH7|KCNH7|transcript|NM_033272.3|protein_coding|14/15|c.3132-13G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=373;p3_1000G_AF=0.0744808;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=19639;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163230185;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=383,4023;ESP6500_AA_AGE=789.9+/-415.0;ESP6500_AA_GTC=20,343,1840;ESP6500_CDS_SIZES=NM_033272.3:3591;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=70;ESP6500_EA_AC=11,8589;ESP6500_EA_AGE=817.9+/-406.9;ESP6500_EA_GTC=0,11,4289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033272.3:intron;ESP6500_GL=KCNH7;ESP6500_GRCh38_POSITION=2:162373675;ESP6500_GTC=20,354,6129;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033272.3:c.3132-13G>A;ESP6500_MAF=0.1279,8.6927,3.0294;ESP6500_TAC=394,12612	GT:AD:DP:GQ:PL	0/1:13,6:19:99:134,0,431
chr2	162385012	rs7605914	C	A	15.88	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.287;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=-0.084;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7605914;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|KCNH7|KCNH7|transcript|NM_033272.3|protein_coding|12/15|c.2711-73G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=247;p3_1000G_AF=0.0493211;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=15954;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163241522;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:44:44,0,310
chr2	162400439	rs16846665	G	T	368.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.939;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.276;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16846665;dbSNPBuildID=123;ANN=T|splice_region_variant&synonymous_variant|LOW|KCNH7|KCNH7|transcript|NM_033272.3|protein_coding|10/16|c.2157C>A|p.Val719Val|2386/4242|2157/3591|719/1196||;p3_1000G_AA=G|||;p3_1000G_AC=247;p3_1000G_AF=0.0493211;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=19366;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163256949;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=17,4387;ESP6500_AA_AGE=23.3+/-48.9;ESP6500_AA_GTC=0,17,2185;ESP6500_CDS_SIZES=NM_033272.3:3591;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=86;ESP6500_EA_AC=9,8591;ESP6500_EA_AGE=5.7+/-21.5;ESP6500_EA_GTC=0,9,4291;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033272.3:coding-synonymous;ESP6500_GL=KCNH7;ESP6500_GRCh38_POSITION=2:162400439;ESP6500_GTC=0,26,6476;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_033272.3:c.2157C>A;ESP6500_HGVS_PROTEIN_VAR=NM_033272.3:p.(V719);ESP6500_MAF=0.1047,0.386,0.1999;ESP6500_TAC=26,12978	GT:AD:DP:GQ:PL	0/1:17,15:32:99:397,0,556
chr2	162838368	rs4667768	C	G	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667768;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|KCNH7|KCNH7|transcript|NM_033272.3|protein_coding|1/15|c.76+75G>C||||||,G|intron_variant|MODIFIER|KCNH7|KCNH7|transcript|NM_173162.2|protein_coding|1/7|c.76+75G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3039;p3_1000G_AF=0.606829;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=16619;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=163694878;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:765,69,0
chr2	164492949	rs1051160	G	A	1031.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=3.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1051160;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|GRB14|GRB14|transcript|NM_004490.2|protein_coding|14/14|c.*87C>T|||||87|,A|3_prime_UTR_variant|MODIFIER|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|13/13|c.*87C>T|||||87|;p3_1000G_AA=G|||;p3_1000G_AC=2466;p3_1000G_AF=0.492412;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=17711;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.6531;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165349459;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:164492949_G_A:1060,75,0
chr2	164492953	rs11765	T	C	301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.32;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=6.576;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0;SOR=0.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11765;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|GRB14|GRB14|transcript|NM_004490.2|protein_coding|14/14|c.*83A>G|||||83|,C|3_prime_UTR_variant|MODIFIER|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|13/13|c.*83A>G|||||83|;p3_1000G_AA=t|||;p3_1000G_AC=697;p3_1000G_AF=0.139177;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=17748;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0.165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165349463;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,13:26:99:0|1:164492949_G_A:330,0,409
chr2	164497202	rs8192673	C	T	3521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=125;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=0.998;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8192673;dbSNPBuildID=117;ANN=T|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_004490.2|protein_coding|11/13|c.1294+9G>A||||||,T|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|10/12|c.1033+9G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3006;p3_1000G_AF=0.60024;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19041;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.7247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165353712;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3080,1326;ESP6500_AA_AGE=695.0+/-405.9;ESP6500_AA_GTC=1086,908,209;ESP6500_CDS_SIZES=NM_004490.2:1623;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_117;ESP6500_DP=109;ESP6500_EA_AC=6162,2438;ESP6500_EA_AGE=697.4+/-404.9;ESP6500_EA_GTC=2199,1764,337;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004490.2:intron;ESP6500_GL=GRB14;ESP6500_GRCh38_POSITION=2:164497202;ESP6500_GTC=3285,2672,546;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004490.2:c.1294+9G>A;ESP6500_MAF=28.3488,30.0953,28.9405;ESP6500_TAC=9242,3764	GT:AD:DP:GQ:PL	1/1:0,125:125:99:3550,374,0
chr2	164502145	rs7584035	T	A	118.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7584035;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_004490.2|protein_coding|9/13|c.1104+110A>T||||||,A|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|8/12|c.843+110A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=539;p3_1000G_AF=0.107628;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=12263;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0.1382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165358655;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr2	164502162	rs4667463	A	G	119.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667463;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_004490.2|protein_coding|9/13|c.1104+93T>C||||||,G|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|8/12|c.843+93T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3452;p3_1000G_AF=0.689297;p3_1000G_AFR_AF=0.8638;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=11969;p3_1000G_EAS_AF=0.3978;p3_1000G_EUR_AF=0.7793;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165358672;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:147,12,0
chr2	164508377	rs8192674	G	A	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.069;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.054;SOR=0.751;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8192674;dbSNPBuildID=117;ANN=A|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_004490.2|protein_coding|8/13|c.1023+78C>T||||||,A|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|7/12|c.762+78C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=473;p3_1000G_AF=0.0944489;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=18360;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165364887;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,13:29:99:332,0,403
chr2	164508446	rs572166040	C	T	553.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.636;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.133;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.477;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_004490.2|protein_coding|8/13|c.1023+9G>A||||||,T|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|7/12|c.762+9G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16925;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165364956;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,25:47:99:582,0,560
chr2	164521917	rs13015232	C	A	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.944;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-0.448;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13015232;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_004490.2|protein_coding|6/13|c.816+63G>T||||||,A|intron_variant|MODIFIER|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|5/12|c.555+63G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=477;p3_1000G_AF=0.0952476;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=18230;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165378427;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:132,0,225
chr2	164527056	rs144437927	A	G	502.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.88;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=-0.821;SOR=0.327;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144437927;dbSNPBuildID=134;ANN=G|structural_interaction_variant|HIGH|GRB14|GRB14|interaction|4K81:A_113-A_187:NM_004490.2|protein_coding|4/14|c.561T>C||||||,G|structural_interaction_variant|HIGH|GRB14|GRB14|interaction|4K81:C_113-C_187:NM_004490.2|protein_coding|4/14|c.561T>C||||||,G|structural_interaction_variant|HIGH|GRB14|GRB14|interaction|4K81:E_113-E_187:NM_004490.2|protein_coding|4/14|c.561T>C||||||,G|structural_interaction_variant|HIGH|GRB14|GRB14|interaction|4K81:G_113-G_187:NM_004490.2|protein_coding|4/14|c.561T>C||||||,G|synonymous_variant|LOW|GRB14|GRB14|transcript|NM_004490.2|protein_coding|4/14|c.561T>C|p.Phe187Phe|1102/2387|561/1623|187/540||,G|synonymous_variant|LOW|GRB14|GRB14|transcript|NM_001303422.1|protein_coding|3/13|c.300T>C|p.Phe100Phe|473/2165|300/1362|100/453||;p3_1000G_AA=A|||;p3_1000G_AC=28;p3_1000G_AF=0.00559105;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=9580;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165383566;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=12,4392;ESP6500_AA_AGE=17.9+/-39.9;ESP6500_AA_GTC=0,12,2190;ESP6500_CDS_SIZES=NM_004490.2:1623;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=100;ESP6500_EA_AC=0,8588;ESP6500_EA_GTC=0,0,4294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004490.2:coding-synonymous;ESP6500_GL=GRB14;ESP6500_GRCh38_POSITION=2:164527056;ESP6500_GTC=0,12,6484;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004490.2:c.561T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004490.2:p.(F187);ESP6500_MAF=0.0,0.2725,0.0924;ESP6500_TAC=12,12980	GT:AD:DP:GQ:PL	0/1:5,21:26:84:531,0,84
chr2	164694353	rs115610399	G	A	385.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.706;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=0.475;SOR=1.042;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115610399;dbSNPBuildID=132;ANN=A|synonymous_variant|LOW|COBLL1|COBLL1|transcript|NM_001278458.1|protein_coding|15/17|c.3354C>T|p.Val1118Val|3478/9587|3354/3702|1118/1233||,A|synonymous_variant|LOW|COBLL1|COBLL1|transcript|NM_001278461.1|protein_coding|11/13|c.3039C>T|p.Val1013Val|3261/9370|3039/3387|1013/1128||,A|synonymous_variant|LOW|COBLL1|COBLL1|transcript|NM_014900.4|protein_coding|12/14|c.3153C>T|p.Val1051Val|3375/9484|3153/3501|1051/1166||,A|synonymous_variant|LOW|COBLL1|COBLL1|transcript|NM_001278460.1|protein_coding|12/14|c.3177C>T|p.Val1059Val|3301/9410|3177/3525|1059/1174||;p3_1000G_AA=G|||;p3_1000G_AC=50;p3_1000G_AF=0.00998403;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18180;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165550863;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=14,4392;ESP6500_AA_AGE=22.3+/-47.3;ESP6500_AA_GTC=0,14,2189;ESP6500_CDS_SIZES=NM_014900.3:3501;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=107;ESP6500_EA_AC=9,8591;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=0,9,4291;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014900.3:coding-synonymous;ESP6500_GL=COBLL1;ESP6500_GRCh38_POSITION=2:164694353;ESP6500_GTC=0,23,6480;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014900.3:c.3153C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014900.3:p.(V1051);ESP6500_MAF=0.1047,0.3177,0.1768;ESP6500_TAC=23,12983	GT:AD:DP:GQ:PL	0/1:24,17:41:99:414,0,632
chr2	164694618	rs139834711	G	A	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.32;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.81;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139834711;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|COBLL1|COBLL1|transcript|NM_001278458.1|protein_coding|15/17|c.3089C>T|p.Ser1030Phe|3213/9587|3089/3702|1030/1233||,A|missense_variant|MODERATE|COBLL1|COBLL1|transcript|NM_001278461.1|protein_coding|11/13|c.2774C>T|p.Ser925Phe|2996/9370|2774/3387|925/1128||,A|missense_variant|MODERATE|COBLL1|COBLL1|transcript|NM_014900.4|protein_coding|12/14|c.2888C>T|p.Ser963Phe|3110/9484|2888/3501|963/1166||,A|missense_variant|MODERATE|COBLL1|COBLL1|transcript|NM_001278460.1|protein_coding|12/14|c.2912C>T|p.Ser971Phe|3036/9410|2912/3525|971/1174||;p3_1000G_AA=G|||;p3_1000G_AC=57;p3_1000G_AF=0.0113818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18069;p3_1000G_EAS_AF=0.0308;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165551128;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_014900.3:3501;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=51;ESP6500_EA_AC=9,8591;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=0,9,4291;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014900.3:missense;ESP6500_GL=COBLL1;ESP6500_GRCh38_POSITION=2:164694618;ESP6500_GS=155;ESP6500_GTC=0,9,6494;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014900.3:c.2888C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014900.3:p.(S963F);ESP6500_MAF=0.1047,0.0,0.0692;ESP6500_PH=benign:0.029;ESP6500_TAC=9,12997	GT:AD:DP:GQ:PL	0/1:18,13:31:99:320,0,509
chr2	164700808	rs6712203	C	T	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.073;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.14;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.22;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6712203;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278458.1|protein_coding|12/16|c.1541-52G>A||||||,T|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278461.1|protein_coding|8/12|c.1226-52G>A||||||,T|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_014900.4|protein_coding|9/13|c.1343-52G>A||||||,T|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278460.1|protein_coding|9/13|c.1364-52G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1888;p3_1000G_AF=0.376997;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=16689;p3_1000G_EAS_AF=0.1022;p3_1000G_EUR_AF=0.4185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165557318;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1687,871;ESP6500_AA_GTC=583,521,175;ESP6500_CDS_SIZES=NM_014900.3:3501;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=23;ESP6500_EA_AC=1606,2980;ESP6500_EA_GTC=298,1010,985;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014900.3:intron;ESP6500_GL=COBLL1;ESP6500_GRCh38_POSITION=2:164700808;ESP6500_GTC=881,1531,1160;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014900.3:c.1343-52G>A;ESP6500_MAF=35.0196,34.05,46.0946;ESP6500_TAC=3293,3851	GT:AD:DP:GQ:PL	0/1:10,7:17:99:199,0,345
chr2	164722071	rs6414069	A	G	681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.09;SOR=3.716;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6414069;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|COBLL1|COBLL1|transcript|NM_001278458.1|protein_coding|9/16|c.1194+4T>C||||||,G|splice_region_variant&intron_variant|LOW|COBLL1|COBLL1|transcript|NM_001278461.1|protein_coding|6/12|c.996+4T>C||||||,G|splice_region_variant&intron_variant|LOW|COBLL1|COBLL1|transcript|NM_014900.4|protein_coding|6/13|c.996+4T>C||||||,G|splice_region_variant&intron_variant|LOW|COBLL1|COBLL1|transcript|NM_001278460.1|protein_coding|7/13|c.1134+4T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3001;p3_1000G_AF=0.599241;p3_1000G_AFR_AF=0.8888;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=16991;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.6044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165578581;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3681,725;ESP6500_AA_AGE=299.3+/-285.7;ESP6500_AA_GTC=1530,621,52;ESP6500_CDS_SIZES=NM_014900.3:3501;ESP6500_CG=-12.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=78;ESP6500_EA_AC=5005,3595;ESP6500_EA_AGE=519.8+/-379.5;ESP6500_EA_GTC=1477,2051,772;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014900.3:intron;ESP6500_GL=COBLL1;ESP6500_GRCh38_POSITION=2:164722071;ESP6500_GTC=3007,2672,824;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014900.3:c.996+4T>C;ESP6500_MAF=41.8023,16.4548,33.2154;ESP6500_TAC=8686,4320	GT:AD:DP:GQ:PL	1/1:0,20:20:60:710,60,0
chr2	164727897	rs12692743	C	T	227.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12692743;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278458.1|protein_coding|6/16|c.820+72G>A||||||,T|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278461.1|protein_coding|4/12|c.661+72G>A||||||,T|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_014900.4|protein_coding|4/13|c.661+72G>A||||||,T|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278460.1|protein_coding|5/13|c.799+72G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3000;p3_1000G_AF=0.599042;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=16262;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.6054;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165584407;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:256,21,0
chr2	164728078	rs199909219	C	T	585.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.074;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-1.597;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199909219;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|COBLL1|COBLL1|transcript|NM_001278458.1|protein_coding|6/17|c.711G>A|p.Pro237Pro|835/9587|711/3702|237/1233||,T|synonymous_variant|LOW|COBLL1|COBLL1|transcript|NM_001278461.1|protein_coding|4/13|c.552G>A|p.Pro184Pro|774/9370|552/3387|184/1128||,T|synonymous_variant|LOW|COBLL1|COBLL1|transcript|NM_014900.4|protein_coding|4/14|c.552G>A|p.Pro184Pro|774/9484|552/3501|184/1166||,T|synonymous_variant|LOW|COBLL1|COBLL1|transcript|NM_001278460.1|protein_coding|5/14|c.690G>A|p.Pro230Pro|814/9410|690/3525|230/1174||;p3_1000G_AA=C|||;p3_1000G_AC=8;p3_1000G_AF=0.00159744;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16391;p3_1000G_EAS_AF=0.0079;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165584588;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,25:46:99:614,0,481
chr2	164779822	rs355897	T	C	891.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs355897;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278458.1|protein_coding|3/16|c.200+20712A>G||||||,C|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278461.1|protein_coding|1/12|c.42-35947A>G||||||,C|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_014900.4|protein_coding|1/13|c.42-35947A>G||||||,C|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278460.1|protein_coding|2/13|c.180-35947A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2770;p3_1000G_AF=0.553115;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=16212;p3_1000G_EAS_AF=0.4673;p3_1000G_EUR_AF=0.4732;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165636332;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:920,84,0
chr2	164800675	rs355915	G	A	195.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs355915;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278458.1|protein_coding|2/16|c.180-121C>T||||||,A|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278461.1|protein_coding|1/12|c.41+40481C>T||||||,A|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_014900.4|protein_coding|1/13|c.41+40481C>T||||||,A|intron_variant|MODIFIER|COBLL1|COBLL1|transcript|NM_001278460.1|protein_coding|2/13|c.179+40481C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1553;p3_1000G_AF=0.310104;p3_1000G_AFR_AF=0.4191;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=18620;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165657185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:224,18,0
chr2	164952628	rs796465022;rs796704721	ATG	A	31.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.311;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=1.48;SOR=0.184;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10544528,rs10549622;dbSNPBuildID=146,146;ANN=A|intron_variant|MODIFIER|SLC38A11|SLC38A11|transcript|NM_001199148.1|protein_coding|2/10|c.61+77_61+78delCA||||||,A|intron_variant|MODIFIER|SLC38A11|SLC38A11|transcript|NM_173512.2|protein_coding|2/9|c.61+77_61+78delCA||||||	GT:AD:DP:GQ:PL	0/1:11,3:14:69:69,0,354
chr2	164955044	rs533780869;rs57100119;rs758188491	GAA	G	141.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=137,144,142;ANN=G|intron_variant|MODIFIER|SLC38A11|SLC38A11|transcript|NM_001199148.1|protein_coding|1/10|c.-15+163_-15+164delTT||||||,G|intron_variant|MODIFIER|SLC38A11|SLC38A11|transcript|NM_173512.2|protein_coding|1/9|c.-15+163_-15+164delTT||||||	GT:AD:DP:GQ:PL	1/1:0,5:5:15:179,15,0
chr2	165131262	rs62174900;167650	T	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=1.06;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62174900;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_006922.3|protein_coding|16/28|c.2547A>C|p.Val849Val|3039/9125|2547/6003|849/2000||,G|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_001081676.1|protein_coding|16/28|c.2400A>C|p.Val800Val|2892/8978|2400/5856|800/1951||,G|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_001081677.1|protein_coding|16/28|c.2400A>C|p.Val800Val|2892/8978|2400/5856|800/1951||,G|sequence_feature|LOW|SCN3A|SCN3A|transmembrane-region:Transmembrane_region|NM_001081676.1|protein_coding|16/28|c.2400A>C||||||,G|sequence_feature|LOW|SCN3A|SCN3A|transmembrane-region:Transmembrane_region|NM_001081677.1|protein_coding|16/28|c.2400A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=910;p3_1000G_AF=0.181709;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=11002;p3_1000G_EAS_AF=0.2728;p3_1000G_EUR_AF=0.1968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165987772;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=284,4122;ESP6500_AA_AGE=155.9+/-189.0;ESP6500_AA_GTC=13,258,1932;ESP6500_CDS_SIZES=NM_006922.3:6003,NM_001081677.1:5856,NM_001081676.1:5856;ESP6500_CG=-1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=101;ESP6500_EA_AC=1835,6765;ESP6500_EA_AGE=328.5+/-318.3;ESP6500_EA_GTC=208,1419,2673;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006922.3:coding-synonymous,NM_001081677.1:coding-synonymous,NM_001081676.1:coding-synonymous;ESP6500_GL=SCN3A;ESP6500_GRCh38_POSITION=2:165131262;ESP6500_GTC=221,1677,4605;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_006922.3:c.2547A>C,NM_001081677.1:c.2400A>C,NM_001081676.1:c.2400A>C;ESP6500_HGVS_PROTEIN_VAR=NM_006922.3:p.(V849),NM_001081677.1:p.(V800),NM_001081676.1:p.(V800);ESP6500_MAF=21.3372,6.4458,16.2925;ESP6500_TAC=2119,10887;CLINVAR_AF_ESP=0.1629;CLINVAR_AF_EXAC=0.20177;CLINVAR_AF_TGP=0.1817;CLINVAR_ALLELEID=178049;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.165131262T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN3A:6328;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=62174900	GT:AD:DP:GQ:PL	0/1:19,9:28:99:229,0,493
chr2	165139597	rs1946892	T	A	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.543;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=0.026;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1946892;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_006922.3|protein_coding|14/28|c.2031A>T|p.Thr677Thr|2523/9125|2031/6003|677/2000||,A|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_001081676.1|protein_coding|14/28|c.1884A>T|p.Thr628Thr|2376/8978|1884/5856|628/1951||,A|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_001081677.1|protein_coding|14/28|c.1884A>T|p.Thr628Thr|2376/8978|1884/5856|628/1951||;p3_1000G_AA=A|||;p3_1000G_AC=3178;p3_1000G_AF=0.634585;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=16901;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.4245;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=165996107;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2919,1487;ESP6500_AA_AGE=476.4+/-357.6;ESP6500_AA_GTC=956,1007,240;ESP6500_CDS_SIZES=NM_006922.3:6003,NM_001081677.1:5856,NM_001081676.1:5856;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=115;ESP6500_EA_AC=3622,4978;ESP6500_EA_AGE=625.1+/-397.7;ESP6500_EA_GTC=767,2088,1445;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006922.3:coding-synonymous,NM_001081677.1:coding-synonymous,NM_001081676.1:coding-synonymous;ESP6500_GL=SCN3A;ESP6500_GRCh38_POSITION=2:165139597;ESP6500_GTC=1723,3095,1685;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_006922.3:c.2031A>T,NM_001081677.1:c.1884A>T,NM_001081676.1:c.1884A>T;ESP6500_HGVS_PROTEIN_VAR=NM_006922.3:p.(T677),NM_001081677.1:p.(T628),NM_001081676.1:p.(T628);ESP6500_MAF=42.1163,33.7494,49.7078;ESP6500_TAC=6541,6465	GT:AD:DP:GQ:PL	0/1:17,12:29:99:266,0,393
chr2	165146969	rs16850131;95445	G	A	536.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.083;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.013;SOR=0.777;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16850131;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_006922.3|protein_coding|12/28|c.1441C>T|p.Leu481Leu|1933/9125|1441/6003|481/2000||,A|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_001081676.1|protein_coding|12/28|c.1441C>T|p.Leu481Leu|1933/8978|1441/5856|481/1951||,A|synonymous_variant|LOW|SCN3A|SCN3A|transcript|NM_001081677.1|protein_coding|12/28|c.1441C>T|p.Leu481Leu|1933/8978|1441/5856|481/1951||;p3_1000G_AA=A|||;p3_1000G_AC=1289;p3_1000G_AF=0.257388;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=15691;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.2008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166003479;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1089,3317;ESP6500_AA_AGE=722.2+/-409.3;ESP6500_AA_GTC=138,813,1252;ESP6500_CDS_SIZES=NM_006922.3:6003,NM_001081677.1:5856,NM_001081676.1:5856;ESP6500_CG=3.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=125;ESP6500_EA_AC=1841,6759;ESP6500_EA_AGE=730.9+/-406.8;ESP6500_EA_GTC=211,1419,2670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006922.3:coding-synonymous,NM_001081677.1:coding-synonymous,NM_001081676.1:coding-synonymous;ESP6500_GL=SCN3A;ESP6500_GRCh38_POSITION=2:165146969;ESP6500_GTC=349,2232,3922;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006922.3:c.1441C>T,NM_001081677.1:c.1441C>T,NM_001081676.1:c.1441C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006922.3:p.(L481),NM_001081677.1:p.(L481),NM_001081676.1:p.(L481);ESP6500_MAF=21.407,24.7163,22.5281;ESP6500_TAC=2930,10076;CLINVAR_AF_ESP=0.2253;CLINVAR_AF_EXAC=0.22148;CLINVAR_AF_TGP=0.2574;CLINVAR_ALLELEID=101344;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.165146969G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN3A:6328;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=16850131	GT:AD:DP:GQ:PL	0/1:30,22:52:99:565,0,667
chr2	165147063	rs58539679	C	T	375.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.614;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.786;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.48;SOR=0.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58539679;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_006922.3|protein_coding|11/27|c.1381-34G>A||||||,T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_001081676.1|protein_coding|11/27|c.1381-34G>A||||||,T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_001081677.1|protein_coding|11/27|c.1381-34G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1287;p3_1000G_AF=0.256989;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=17676;p3_1000G_EAS_AF=0.3065;p3_1000G_EUR_AF=0.2008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166003573;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2894;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1075,3331;ESP6500_AA_AGE=339.4+/-305.8;ESP6500_AA_GTC=135,805,1263;ESP6500_CDS_SIZES=NM_006922.3:6003,NM_001081677.1:5856,NM_001081676.1:5856;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=38;ESP6500_EA_AC=1832,6766;ESP6500_EA_AGE=304.4+/-306.9;ESP6500_EA_GTC=208,1416,2675;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006922.3:intron,NM_001081677.1:intron,NM_001081676.1:intron;ESP6500_GL=SCN3A;ESP6500_GRCh38_POSITION=2:165147063;ESP6500_GTC=343,2221,3938;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006922.3:c.1381-34G>A,NM_001081677.1:c.1381-34G>A,NM_001081676.1:c.1381-34G>A;ESP6500_MAF=21.3073,24.3985,22.3547;ESP6500_TAC=2907,10097	GT:AD:DP:GQ:PL	0/1:13,16:29:99:404,0,439
chr2	165154269	rs7561140	G	T	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7561140;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_006922.3|protein_coding|11/27|c.1380+183C>A||||||,T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_001081676.1|protein_coding|11/27|c.1380+183C>A||||||,T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_001081677.1|protein_coding|11/27|c.1380+183C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3694;p3_1000G_AF=0.73762;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=13176;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.7107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166010779;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:33:64,0,33
chr2	165155693	rs3731760	C	T	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.506;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=5.614;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.618;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731760;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_006922.3|protein_coding|10/27|c.1173+69G>A||||||,T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_001081676.1|protein_coding|10/27|c.1173+69G>A||||||,T|intron_variant|MODIFIER|SCN3A|SCN3A|transcript|NM_001081677.1|protein_coding|10/27|c.1173+69G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3670;p3_1000G_AF=0.732827;p3_1000G_AFR_AF=0.6891;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=19822;p3_1000G_EAS_AF=0.8502;p3_1000G_EUR_AF=0.7097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166012203;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:261,0,356
chr2	165295879	rs17183814;130224	G	A	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.293;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.252;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=2.12;SOR=1.052;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17183814;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|2/27|c.56G>A|p.Arg19Lys|346/8794|56/6018|19/2005||,A|missense_variant|MODERATE|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|2/27|c.56G>A|p.Arg19Lys|412/8860|56/6018|19/2005||,A|missense_variant|MODERATE|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|1/26|c.56G>A|p.Arg19Lys|107/8555|56/6018|19/2005||;p3_1000G_AA=G|||;p3_1000G_AC=420;p3_1000G_AF=0.0838658;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=20245;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.0567;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166152389;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=148,4258;ESP6500_AA_AGE=103.4+/-141.9;ESP6500_AA_GTC=2,144,2057;ESP6500_CDS_SIZES=NM_021007.2:6018,NM_001040143.1:6018,NM_001040142.1:6018;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=78;ESP6500_EA_AC=616,7984;ESP6500_EA_AGE=160.4+/-213.5;ESP6500_EA_GTC=21,574,3705;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021007.2:missense,NM_001040143.1:missense,NM_001040142.1:missense;ESP6500_GL=SCN2A;ESP6500_GRCh38_POSITION=2:165295879;ESP6500_GS=26,26,26;ESP6500_GTC=23,718,5762;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_021007.2:c.56G>A,NM_001040143.1:c.56G>A,NM_001040142.1:c.56G>A;ESP6500_HGVS_PROTEIN_VAR=NM_021007.2:p.(R19K),NM_001040143.1:p.(R19K),NM_001040142.1:p.(R19K);ESP6500_MAF=7.1628,3.3591,5.8742;ESP6500_PH=benign:0.002,benign:0.002,benign:0.002;ESP6500_TAC=764,12242;CLINVAR_AF_ESP=0.0587;CLINVAR_AF_EXAC=0.08200;CLINVAR_AF_TGP=0.0839;CLINVAR_ALLELEID=135671;CLINVAR_CLNDISDB=MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927|MedGen:CN169374|MedGen:CN239232;CLINVAR_CLNDN=Benign_familial_neonatal-infantile_seizures|not_specified|Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant;CLINVAR_CLNHGVS=NC_000002.12:g.165295879G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26109|UniProtKB_(protein):Q99250#VAR_029732;CLINVAR_GENEINFO=SCN2A:6326;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17183814	GT:AD:DP:GQ:PL	0/1:31,29:60:99:755,0,880
chr2	165307705	rs3214603;rs397761474	CA	C	299.25	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.213;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=23.02;ReadPosRankSum=-0.401;SOR=3.767;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3214603;dbSNPBuildID=134,138;ANN=C|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|3/26|c.387-135delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|3/26|c.387-135delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|2/25|c.387-135delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|AAAAAAAA|AAAAAAA|unsure;p3_1000G_AC=1740;p3_1000G_AF=0.347444;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=17427;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.3529;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166164215;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,12:13:9:336,9,0
chr2	165310162	rs2116658	C	T	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2116658;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|6/26|c.698-161C>T||||||,T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|6/26|c.698-161C>T||||||,T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|5/25|c.698-161C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1334;p3_1000G_AF=0.266374;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=18629;p3_1000G_EAS_AF=0.1488;p3_1000G_EUR_AF=0.2823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166166672;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:67:128,0,67
chr2	165313563	rs13025009	A	G	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.108;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=0.062;SOR=0.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13025009;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|8/26|c.1035-57A>G||||||,G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|8/26|c.1035-57A>G||||||,G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|7/25|c.1035-57A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=737;p3_1000G_AF=0.147165;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=16631;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166170073;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,12:17:99:371,0,150
chr2	165313617	rs2121371;130216	T	C	577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.361;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.65;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.995;SOR=0.193;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2121371;dbSNPBuildID=96;ANN=C|splice_region_variant&intron_variant|LOW|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|8/26|c.1035-3T>C||||||,C|splice_region_variant&intron_variant|LOW|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|8/26|c.1035-3T>C||||||,C|splice_region_variant&intron_variant|LOW|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|7/25|c.1035-3T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3868;p3_1000G_AF=0.772364;p3_1000G_AFR_AF=0.792;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=16634;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.83;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166170127;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3545,861;ESP6500_AA_AGE=338.1+/-305.1;ESP6500_AA_GTC=1421,703,79;ESP6500_CDS_SIZES=NM_021007.2:6018,NM_001040143.1:6018,NM_001040142.1:6018;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=120;ESP6500_EA_AC=7233,1367;ESP6500_EA_AGE=266.3+/-286.6;ESP6500_EA_GTC=3029,1175,96;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021007.2:intron,NM_001040143.1:intron,NM_001040142.1:intron;ESP6500_GL=SCN2A;ESP6500_GRCh38_POSITION=2:165313617;ESP6500_GTC=4450,1878,175;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021007.2:c.1035-3T>C,NM_001040143.1:c.1035-3T>C,NM_001040142.1:c.1035-3T>C;ESP6500_MAF=15.8953,19.5415,17.1306;ESP6500_TAC=10778,2228;CLINVAR_ALLELEID=135663;CLINVAR_CLNDISDB=MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927|MedGen:CN169374|MedGen:CN239232;CLINVAR_CLNDN=Benign_familial_neonatal-infantile_seizures|not_specified|Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant;CLINVAR_CLNHGVS=NC_000002.12:g.165313617T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26105;CLINVAR_GENEINFO=SCN2A:6326;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2121371	GT:AD:DP:GQ:PL	0/1:14,22:36:99:606,0,367
chr2	165315807	rs1838846	A	G	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.232;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1838846;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|11/26|c.1671+49A>G||||||,G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|11/26|c.1671+49A>G||||||,G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|10/25|c.1671+49A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3866;p3_1000G_AF=0.771965;p3_1000G_AFR_AF=0.7927;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=16651;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.83;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166172317;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3496,760;ESP6500_AA_GTC=1440,616,72;ESP6500_CDS_SIZES=NM_021007.2:6018,NM_001040143.1:6018,NM_001040142.1:6018;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=26;ESP6500_EA_AC=7193,1267;ESP6500_EA_GTC=3053,1087,90;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021007.2:intron,NM_001040143.1:intron,NM_001040142.1:intron;ESP6500_GL=SCN2A;ESP6500_GRCh38_POSITION=2:165315807;ESP6500_GTC=4493,1703,162;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021007.2:c.1671+49A>G,NM_001040143.1:c.1671+49A>G,NM_001040142.1:c.1671+49A>G;ESP6500_MAF=14.9764,17.8571,15.9405;ESP6500_TAC=10689,2027	GT:AD:DP:GQ:PL	0/1:9,8:17:99:217,0,194
chr2	165323140	rs1867864;261400	C	T	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.099;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=4.17;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.715;SOR=0.184;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1867864;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|11/26|c.1672-16C>T||||||,T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|11/26|c.1672-16C>T||||||,T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|10/25|c.1672-16C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2518;p3_1000G_AF=0.502796;p3_1000G_AFR_AF=0.6127;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=19952;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166179650;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4867;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2681,1717;ESP6500_AA_GTC=833,1015,351;ESP6500_CDS_SIZES=NM_021007.2:6018,NM_001040143.1:6018,NM_001040142.1:6018;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=32;ESP6500_EA_AC=5044,3514;ESP6500_EA_GTC=1552,1940,787;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021007.2:intron,NM_001040143.1:intron,NM_001040142.1:intron;ESP6500_GL=SCN2A;ESP6500_GRCh38_POSITION=2:165323140;ESP6500_GTC=2385,2955,1138;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_021007.2:c.1672-16C>T,NM_001040143.1:c.1672-16C>T,NM_001040142.1:c.1672-16C>T;ESP6500_MAF=41.061,39.0405,40.3751;ESP6500_TAC=7725,5231;CLINVAR_ALLELEID=250321;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.165323140C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN2A:6326;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1867864	GT:AD:DP:GQ:PL	0/1:17,15:32:99:374,0,529
chr2	165326814	rs79920892	A	G	361.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.126;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=5.329;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.847;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79920892;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|12/26|c.2017-38A>G||||||,G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|12/26|c.2017-38A>G||||||,G|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|11/25|c.2017-38A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=188;p3_1000G_AF=0.0375399;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19042;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166183324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0777;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_021007.2:6018,NM_001040143.1:6018,NM_001040142.1:6018;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=84;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021007.2:intron,NM_001040143.1:intron,NM_001040142.1:intron;ESP6500_GL=SCN2A;ESP6500_GRCh38_POSITION=2:165326814;ESP6500_GTC=0,3,6500;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021007.2:c.2017-38A>G,NM_001040143.1:c.2017-38A>G,NM_001040142.1:c.2017-38A>G;ESP6500_MAF=0.0349,0.0,0.0231;ESP6500_TAC=3,13003	GT:AD:DP:GQ:PL	0/1:21,17:38:99:390,0,547
chr2	165365059	rs3835933;rs397736873;rs398080784;rs535864181	TG	T	11.13	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.71;ReadPosRankSum=-0.967;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3835933;dbSNPBuildID=134,142,138,138;ANN=T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|17/26|c.3400-74delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|17/26|c.3400-74delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|16/25|c.3400-74delG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,2:3:19:48,0,19
chr2	165373412	rs6432821	T	C	490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.38;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6432821;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|21/26|c.3972+65T>C||||||,C|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|21/26|c.3972+65T>C||||||,C|intron_variant|MODIFIER|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|20/25|c.3972+65T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4941;p3_1000G_AF=0.986621;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18715;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166229922;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:519,42,0
chr2	165388720	rs2060198;130223	T	A	1669.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.28;ClippingRankSum=0;DP=130;ExcessHet=3.0103;FS=2.2;MLEAC=1;MLEAF=0.5;MQ=58.73;MQRankSum=0.208;QD=12.84;ReadPosRankSum=0.057;SOR=0.895;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2060198;dbSNPBuildID=94;ANN=A|synonymous_variant|LOW|SCN2A|SCN2A|transcript|NM_001040142.1|protein_coding|27/27|c.4914T>A|p.Arg1638Arg|5204/8794|4914/6018|1638/2005||,A|synonymous_variant|LOW|SCN2A|SCN2A|transcript|NM_021007.2|protein_coding|27/27|c.4914T>A|p.Arg1638Arg|5270/8860|4914/6018|1638/2005||,A|synonymous_variant|LOW|SCN2A|SCN2A|transcript|NM_001040143.1|protein_coding|26/26|c.4914T>A|p.Arg1638Arg|4965/8555|4914/6018|1638/2005||;p3_1000G_AA=T|||;p3_1000G_AC=1249;p3_1000G_AF=0.249401;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=19642;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.2913;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166245230;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=743,3663;ESP6500_AA_AGE=306.3+/-289.4;ESP6500_AA_GTC=60,623,1520;ESP6500_CDS_SIZES=NM_021007.2:6018,NM_001040143.1:6018,NM_001040142.1:6018;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=109;ESP6500_EA_AC=2395,6199;ESP6500_EA_AGE=398.2+/-346.0;ESP6500_EA_GTC=317,1761,2219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021007.2:coding-synonymous,NM_001040143.1:coding-synonymous,NM_001040142.1:coding-synonymous;ESP6500_GL=SCN2A;ESP6500_GRCh38_POSITION=2:165388720;ESP6500_GTC=377,2384,3739;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_021007.2:c.4914T>A,NM_001040143.1:c.4914T>A,NM_001040142.1:c.4914T>A;ESP6500_HGVS_PROTEIN_VAR=NM_021007.2:p.(R1638),NM_001040143.1:p.(R1638),NM_001040142.1:p.(R1638);ESP6500_MAF=27.8683,16.8634,24.1385;ESP6500_TAC=3138,9862;CLINVAR_AF_ESP=0.2414;CLINVAR_AF_EXAC=0.28476;CLINVAR_AF_TGP=0.2494;CLINVAR_ALLELEID=135670;CLINVAR_CLNDISDB=MedGen:C1843140,OMIM:607745,Orphanet:ORPHA140927|MedGen:CN169374|MedGen:CN239232;CLINVAR_CLNDN=Benign_familial_neonatal-infantile_seizures|not_specified|Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Dominant;CLINVAR_CLNHGVS=NC_000002.12:g.165388720T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26148;CLINVAR_GENEINFO=SCN2A:6326;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2060198	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1698,0,1606
chr2	165657655	rs12620509	C	G	949.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.58;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12620509;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CSRNP3|CSRNP3|transcript|NM_001172173.1|protein_coding|4/6|c.149-106C>G||||||,G|intron_variant|MODIFIER|CSRNP3|CSRNP3|transcript|NM_024969.3|protein_coding|2/4|c.149-106C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2247;p3_1000G_AF=0.448682;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=18837;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166514165;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:978,72,0
chr2	165761617	rs386391708;rs71393694	G	GA	274.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.53;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs71393694,rs60031757;dbSNPBuildID=130,138;ANN=GA|intron_variant|MODIFIER|GALNT3|GALNT3|transcript|NM_004482.3|protein_coding|4/10|c.838+287dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2513;p3_1000G_AF=0.501797;p3_1000G_AFR_AF=0.4259;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=17267;p3_1000G_EAS_AF=0.5615;p3_1000G_EUR_AF=0.4533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166618127;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:35:269,35,0
chr2	165764844	rs2113840	T	C	847.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2113840;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|GALNT3|GALNT3|transcript|NM_004482.3|protein_coding|3/10|c.688+40A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4987;p3_1000G_AF=0.995807;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17126;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166621354;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4344,62;ESP6500_AA_AGE=58.7+/-95.3;ESP6500_AA_GTC=2141,62,0;ESP6500_CDS_SIZES=NM_004482.3:1902;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=98;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004482.3:intron;ESP6500_GL=GALNT3;ESP6500_GRCh38_POSITION=2:165764844;ESP6500_GTC=6440,63,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004482.3:c.688+40A>G;ESP6500_MAF=0.0116,1.4072,0.4844;ESP6500_TAC=12943,63	GT:AD:DP:GQ:PL	1/1:0,27:27:81:876,81,0
chr2	165929841	rs1560596	C	T	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1560596;dbSNPBuildID=88;ANN=T|upstream_gene_variant|MODIFIER|TTC21B-AS1|TTC21B-AS1|transcript|NR_038983.1|pseudogene||n.-4016C>T|||||4016|,T|upstream_gene_variant|MODIFIER|TTC21B-AS1|TTC21B-AS1|transcript|NR_038984.1|pseudogene||n.-4016C>T|||||4016|,T|intron_variant|MODIFIER|TTC21B|TTC21B|transcript|NM_024753.4|protein_coding|9/28|c.1088-94G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1015;p3_1000G_AF=0.202676;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.0663;p3_1000G_AN=5008;p3_1000G_DP=16485;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.1332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166786351;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:261,21,0
chr2	165931826	rs7592429;130660	T	C	1007.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7592429;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|TTC21B|TTC21B|transcript|NM_024753.4|protein_coding|8/29|c.826A>G|p.Thr276Ala|959/5477|826/3951|276/1316||,C|upstream_gene_variant|MODIFIER|TTC21B-AS1|TTC21B-AS1|transcript|NR_038983.1|pseudogene||n.-2031T>C|||||2031|,C|upstream_gene_variant|MODIFIER|TTC21B-AS1|TTC21B-AS1|transcript|NR_038984.1|pseudogene||n.-2031T>C|||||2031|;p3_1000G_AA=C|||;p3_1000G_AC=4748;p3_1000G_AF=0.948083;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18042;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166788336;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3700,706;ESP6500_AA_AGE=294.1+/-283.0;ESP6500_AA_GTC=1546,608,49;ESP6500_CDS_SIZES=NM_024753.4:3951;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=135;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024753.4:missense;ESP6500_GL=TTC21B;ESP6500_GRCh38_POSITION=2:165931826;ESP6500_GS=58;ESP6500_GTC=5846,608,49;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024753.4:c.826A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024753.4:p.(T276A);ESP6500_MAF=0.0,16.0236,5.4283;ESP6500_PH=benign:0.0;ESP6500_TAC=12300,706;CLINVAR_ALLELEID=136106;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED_CT:253175003,SNOMED_CT:716997004|MedGen:C0265275,Orphanet:ORPHA474,SNOMED_CT:75049004|MedGen:CN169374;CLINVAR_CLNDN=Joubert_syndrome|Jeune_thoracic_dystrophy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.165931826T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26202|UniProtKB_(protein):Q7Z4L5#VAR_032889;CLINVAR_GENEINFO=TTC21B:79809;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7592429	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1036,93,0
chr2	165941136	rs1432273;130657	C	T	1218.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=0.741;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1432273;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|TTC21B|TTC21B|transcript|NM_024753.4|protein_coding|6/29|c.601G>A|p.Val201Met|734/5477|601/3951|201/1316||,T|intron_variant|MODIFIER|TTC21B-AS1|TTC21B-AS1|transcript|NR_038983.1|pseudogene|2/4|n.277-6061C>T||||||,T|intron_variant|MODIFIER|TTC21B-AS1|TTC21B-AS1|transcript|NR_038984.1|pseudogene|1/3|n.221-6061C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3342;p3_1000G_AF=0.667332;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=15959;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166797646;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2580,1826;ESP6500_AA_AGE=636.8+/-396.6;ESP6500_AA_GTC=741,1098,364;ESP6500_CDS_SIZES=NM_024753.4:3951;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=95;ESP6500_EA_AC=5250,3350;ESP6500_EA_AGE=643.1+/-399.9;ESP6500_EA_GTC=1588,2074,638;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024753.4:missense;ESP6500_GL=TTC21B;ESP6500_GRCh38_POSITION=2:165941136;ESP6500_GS=21;ESP6500_GTC=2329,3172,1002;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024753.4:c.601G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024753.4:p.(V201M);ESP6500_MAF=38.9535,41.4435,39.797;ESP6500_PH=probably-damaging:0.992;ESP6500_TAC=7830,5176;CLINVAR_ALLELEID=136103;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0002335,MedGen:C0431399,Orphanet:ORPHA475,SNOMED_CT:253175003,SNOMED_CT:716997004|MedGen:C0265275,Orphanet:ORPHA474,SNOMED_CT:75049004|MedGen:CN169374;CLINVAR_CLNDN=Joubert_syndrome|Jeune_thoracic_dystrophy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.165941136C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26219|UniProtKB_(protein):Q7Z4L5#VAR_032888;CLINVAR_GENEINFO=TTC21B:79809|TTC21B-AS1:100506134;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1432273	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1247,123,0
chr2	165943383	rs10930190	G	A	119.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10930190;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TTC21B|TTC21B|transcript|NM_024753.4|protein_coding|4/28|c.430-42C>T||||||,A|intron_variant|MODIFIER|TTC21B-AS1|TTC21B-AS1|transcript|NR_038983.1|pseudogene|2/4|n.277-3814G>A||||||,A|intron_variant|MODIFIER|TTC21B-AS1|TTC21B-AS1|transcript|NR_038984.1|pseudogene|1/3|n.221-3814G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4990;p3_1000G_AF=0.996406;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15224;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166799893;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4319,61;ESP6500_AA_GTC=2129,61,0;ESP6500_CDS_SIZES=NM_024753.4:3951;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=18;ESP6500_EA_AC=8576,0;ESP6500_EA_GTC=4288,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024753.4:intron;ESP6500_GL=TTC21B;ESP6500_GRCh38_POSITION=2:165943383;ESP6500_GTC=6417,61,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024753.4:c.430-42C>T;ESP6500_MAF=0.0,1.3927,0.4708;ESP6500_TAC=12895,61	GT:AD:DP:GQ:PL	1/1:0,4:4:12:147,12,0
chr2	165953543	rs6716946	C	T	402.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.33;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6716946;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene||n.-3875C>T|||||3875|,T|intron_variant|MODIFIER|TTC21B|TTC21B|transcript|NM_024753.4|protein_coding|1/28|c.21+142G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4993;p3_1000G_AF=0.997005;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=10612;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166810053;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:431,33,0
chr2	165953863	rs1347041	A	G	400.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1347041;dbSNPBuildID=88;ANN=G|upstream_gene_variant|MODIFIER|TTC21B|TTC21B|transcript|NM_024753.4|protein_coding||c.-158T>C|||||25|,G|upstream_gene_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene||n.-3555A>G|||||3555|,G|intergenic_region|MODIFIER|TTC21B-LOC102724058|TTC21B-LOC102724058|intergenic_region|TTC21B-LOC102724058|||n.165953863A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=7577;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166810373;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:429,39,0
chr2	166036278	rs2298771;36753	C	T	1197.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.41;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.516;SOR=0.771;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2298771;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|16/26|c.3199G>A|p.Ala1067Thr|3217/8133|3199/6030|1067/2009||,T|missense_variant|MODERATE|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|16/26|c.3115G>A|p.Ala1039Thr|3133/8049|3115/5946|1039/1981||,T|missense_variant|MODERATE|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|16/26|c.3166G>A|p.Ala1056Thr|3184/8100|3166/5997|1056/1998||,T|missense_variant|MODERATE|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|18/28|c.3199G>A|p.Ala1067Thr|3426/8342|3199/6030|1067/2009||,T|non_coding_transcript_exon_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene|4/4|n.618C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3949;p3_1000G_AF=0.788538;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19363;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.6918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166892788;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3597,809;ESP6500_AA_AGE=322.9+/-297.8;ESP6500_AA_GTC=1461,675,67;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=-2.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=132;ESP6500_EA_AC=5809,2791;ESP6500_EA_AGE=440.9+/-359.6;ESP6500_EA_GTC=1949,1911,440;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006920.4:missense,NM_001202435.1:missense,NM_001165964.1:missense,NM_001165963.1:missense;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166036278;ESP6500_GS=58,58,58,58;ESP6500_GTC=3410,2586,507;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.3166G>A,NM_001202435.1:c.3199G>A,NM_001165964.1:c.3115G>A,NM_001165963.1:c.3199G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006920.4:p.(A1056T),NM_001202435.1:p.(A1067T),NM_001165964.1:p.(A1039T),NM_001165963.1:p.(A1067T);ESP6500_MAF=32.4535,18.3613,27.6795;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=9406,3600;CLINVAR_ALLELEID=45414;CLINVAR_CLNDISDB=MeSH:D004827,MedGen:C0014544,Orphanet:ORPHA166463|MedGen:C0338484,Orphanet:ORPHA569,SNOMED_CT:95656000|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374;CLINVAR_CLNDN=Epilepsy|Familial_hemiplegic_migraine|Generalized_epilepsy_with_febrile_seizures_plus|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.166036278C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26223|UniProtKB_(protein):P35498#VAR_014269;CLINVAR_GENEINFO=SCN1A:6323|LOC102724058:102724058;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2298771	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1226,0,1516
chr2	166036571	rs7601520;487362	G	A	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.034;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.262;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.08;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7601520;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene||n.*171G>A|||||171|,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|15/25|c.2947-41C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|15/25|c.2863-41C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|15/25|c.2914-41C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|17/27|c.2947-41C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3950;p3_1000G_AF=0.788738;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=18352;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.6918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166893081;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3570,782;ESP6500_AA_GTC=1460,650,66;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=14;ESP6500_EA_AC=5802,2642;ESP6500_EA_GTC=2003,1796,423;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006920.4:intron,NM_001202435.1:intron,NM_001165964.1:intron,NM_001165963.1:intron;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166036571;ESP6500_GTC=3463,2446,489;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.2914-41C>T,NM_001202435.1:c.2947-41C>T,NM_001165964.1:c.2863-41C>T,NM_001165963.1:c.2947-41C>T;ESP6500_MAF=31.2885,17.9688,26.7584;ESP6500_TAC=9372,3424;CLINVAR_ALLELEID=480426;CLINVAR_CLNDISDB=MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED_CT:230437002|MedGen:C1858673,OMIM:604403|MedGen:C1864987,OMIM:609634;CLINVAR_CLNDN=Severe_myoclonic_epilepsy_in_infancy|Generalized_epilepsy_with_febrile_seizures_plus,_type_2|Familial_hemiplegic_migraine_type_3;CLINVAR_CLNHGVS=NC_000002.12:g.166036571G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN1A:6323;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7601520	GT:AD:DP:GQ:PL	0/1:12,10:22:99:310,0,332
chr2	166037720	rs2020318	T	C	969.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.25;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=0.587;SOR=0.502;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2020318;dbSNPBuildID=92;ANN=C|downstream_gene_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene||n.*1320T>C|||||1320|,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|15/25|c.2946+56A>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|15/25|c.2862+56A>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|15/25|c.2913+56A>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|17/27|c.2946+56A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3953;p3_1000G_AF=0.789337;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19350;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166894230;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,30:57:99:998,0,766
chr2	166039403	rs199995171;rs534030384;rs57393001;rs759518196	CTT	C	149.0	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=5.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.29;ReadPosRankSum=0.792;SOR=2.225;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs199995171,rs57393001;dbSNPBuildID=137,144,142,129;ANN=C|downstream_gene_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene||n.*3004_*3005delTT|||||3004|,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|14/25|c.2589+18_2589+19delAA||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|14/25|c.2505+18_2505+19delAA||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|14/25|c.2556+18_2556+19delAA||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|16/27|c.2589+18_2589+19delAA||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,6:7:12:0|1:166039403_CTT_C:186,0,12
chr2	166039633	rs2126152	T	G	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.389;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.095;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2126152;dbSNPBuildID=96;ANN=G|downstream_gene_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene||n.*3233T>G|||||3233|,G|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|13/25|c.2416-37A>C||||||,G|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|13/25|c.2332-37A>C||||||,G|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|13/25|c.2383-37A>C||||||,G|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|15/27|c.2416-37A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3953;p3_1000G_AF=0.789337;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=16878;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166896143;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3584,810;ESP6500_AA_GTC=1461,662,74;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=30;ESP6500_EA_AC=5812,2786;ESP6500_EA_GTC=1953,1906,440;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006920.4:intron,NM_001202435.1:intron,NM_001165964.1:intron,NM_001165963.1:intron;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166039633;ESP6500_GTC=3414,2568,514;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.2383-37A>C,NM_001202435.1:c.2416-37A>C,NM_001165964.1:c.2332-37A>C,NM_001165963.1:c.2416-37A>C;ESP6500_MAF=32.4029,18.4342,27.6786;ESP6500_TAC=9396,3596	GT:AD:DP:GQ:PL	0/1:5,6:11:99:137,0,119
chr2	166039668	rs490317	C	T	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.398;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs490317;dbSNPBuildID=83;ANN=T|downstream_gene_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene||n.*3268C>T|||||3268|,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|13/25|c.2416-72G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|13/25|c.2332-72G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|13/25|c.2383-72G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|15/27|c.2416-72G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=781;p3_1000G_AF=0.15595;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=17049;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166896178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:120,0,116
chr2	166041354	rs6432860;36752	A	G	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-1.093;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6432860;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|13/26|c.2292T>C|p.Val764Val|2310/8133|2292/6030|764/2009||,G|synonymous_variant|LOW|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|13/26|c.2208T>C|p.Val736Val|2226/8049|2208/5946|736/1981||,G|synonymous_variant|LOW|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|13/26|c.2259T>C|p.Val753Val|2277/8100|2259/5997|753/1998||,G|synonymous_variant|LOW|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|15/28|c.2292T>C|p.Val764Val|2519/8342|2292/6030|764/2009||,G|downstream_gene_variant|MODIFIER|LOC102724058|LOC102724058|transcript|NR_110598.1|pseudogene||n.*4954A>G|||||4954|;p3_1000G_AA=G|||;p3_1000G_AC=3951;p3_1000G_AF=0.788938;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=16810;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.6909;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166897864;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3598,808;ESP6500_AA_AGE=324.5+/-298.6;ESP6500_AA_GTC=1462,674,67;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=-5.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=113;ESP6500_EA_AC=5810,2790;ESP6500_EA_AGE=442.0+/-360.0;ESP6500_EA_GTC=1950,1910,440;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006920.4:coding-synonymous,NM_001202435.1:coding-synonymous,NM_001165964.1:coding-synonymous,NM_001165963.1:coding-synonymous;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166041354;ESP6500_GTC=3412,2584,507;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.2259T>C,NM_001202435.1:c.2292T>C,NM_001165964.1:c.2208T>C,NM_001165963.1:c.2292T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006920.4:p.(V753),NM_001202435.1:p.(V764),NM_001165964.1:p.(V736),NM_001165963.1:p.(V764);ESP6500_MAF=32.4419,18.3386,27.6642;ESP6500_TAC=9408,3598;CLINVAR_ALLELEID=45413;CLINVAR_CLNDISDB=MeSH:D004827,MedGen:C0014544,Orphanet:ORPHA166463|MedGen:C0338484,Orphanet:ORPHA569,SNOMED_CT:95656000|MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED_CT:230437002|MedGen:C1858673,OMIM:604403|MedGen:C1864987,OMIM:609634|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374;CLINVAR_CLNDN=Epilepsy|Familial_hemiplegic_migraine|Severe_myoclonic_epilepsy_in_infancy|Generalized_epilepsy_with_febrile_seizures_plus,_type_2|Familial_hemiplegic_migraine_type_3|Generalized_epilepsy_with_febrile_seizures_plus|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.166041354A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:14540|Illumina_Clinical_Services_Laboratory,Illumina:26235;CLINVAR_GENEINFO=SCN1A:6323;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6432860	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,15:39:99:0|1:166041354_A_G:396,0,676
chr2	166044096	rs6753355	A	C	56.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.73;ReadPosRankSum=0.605;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6753355;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|10/25|c.1663-47T>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|10/25|c.1663-47T>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|10/25|c.1663-47T>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|12/27|c.1663-47T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3953;p3_1000G_AF=0.789337;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=21364;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166900606;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3593,789;ESP6500_AA_GTC=1481,631,79;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=13;ESP6500_EA_AC=5834,2748;ESP6500_EA_GTC=1991,1852,448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006920.4:intron,NM_001202435.1:intron,NM_001165964.1:intron,NM_001165963.1:intron;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166044096;ESP6500_GTC=3472,2483,527;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.1663-47T>G,NM_001202435.1:c.1663-47T>G,NM_001165964.1:c.1663-47T>G,NM_001165963.1:c.1663-47T>G;ESP6500_MAF=32.0205,18.0055,27.2832;ESP6500_TAC=9427,3537	GT:AD:DP:GQ:PL	0/1:9,3:12:85:85,0,291
chr2	166046678	rs538921	A	C	965.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs538921;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|9/25|c.1377+92T>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|9/25|c.1377+92T>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|9/25|c.1377+92T>G||||||,C|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|11/27|c.1377+92T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4739;p3_1000G_AF=0.946286;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=18273;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.9682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166903188;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:994,84,0
chr2	166046718	rs6432861	C	T	628.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.255;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.944;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.351;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6432861;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|9/25|c.1377+52G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|9/25|c.1377+52G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|9/25|c.1377+52G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|11/27|c.1377+52G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2493;p3_1000G_AF=0.497804;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=18468;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.5408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166903228;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=602,1150;ESP6500_AA_GTC=89,424,363;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=32;ESP6500_EA_AC=2167,1813;ESP6500_EA_GTC=591,985,414;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006920.4:intron,NM_001202435.1:intron,NM_001165964.1:intron,NM_001165963.1:intron;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166046718;ESP6500_GTC=680,1409,777;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.1377+52G>A,NM_001202435.1:c.1377+52G>A,NM_001165964.1:c.1377+52G>A,NM_001165963.1:c.1377+52G>A;ESP6500_MAF=45.5528,34.3607,48.3077;ESP6500_TAC=2769,2963	GT:AD:DP:GQ:PL	0/1:22,24:46:99:657,0,568
chr2	166046935	rs7580482;36751	T	C	1055.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=0.356;SOR=0.788;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7580482;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|9/26|c.1212A>G|p.Val404Val|1230/8133|1212/6030|404/2009||,C|synonymous_variant|LOW|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|9/26|c.1212A>G|p.Val404Val|1230/8049|1212/5946|404/1981||,C|synonymous_variant|LOW|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|9/26|c.1212A>G|p.Val404Val|1230/8100|1212/5997|404/1998||,C|synonymous_variant|LOW|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|11/28|c.1212A>G|p.Val404Val|1439/8342|1212/6030|404/2009||;p3_1000G_AA=C|||;p3_1000G_AC=3552;p3_1000G_AF=0.709265;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=18617;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.6909;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166903445;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2512,1894;ESP6500_AA_AGE=544.5+/-376.5;ESP6500_AA_GTC=703,1106,394;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=101;ESP6500_EA_AC=5807,2793;ESP6500_EA_AGE=442.2+/-360.0;ESP6500_EA_GTC=1948,1911,441;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006920.4:coding-synonymous,NM_001202435.1:coding-synonymous,NM_001165964.1:coding-synonymous,NM_001165963.1:coding-synonymous;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166046935;ESP6500_GTC=2651,3017,835;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.1212A>G,NM_001202435.1:c.1212A>G,NM_001165964.1:c.1212A>G,NM_001165963.1:c.1212A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006920.4:p.(V404),NM_001202435.1:p.(V404),NM_001165964.1:p.(V404),NM_001165963.1:p.(V404);ESP6500_MAF=32.4767,42.9868,36.0372;ESP6500_TAC=8319,4687;CLINVAR_ALLELEID=45412;CLINVAR_CLNDISDB=MeSH:D004827,MedGen:C0014544,Orphanet:ORPHA166463|MedGen:C0338484,Orphanet:ORPHA569,SNOMED_CT:95656000|MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED_CT:230437002|MedGen:C1858673,OMIM:604403|MedGen:C1864987,OMIM:609634|MedGen:CN169374;CLINVAR_CLNDN=Epilepsy|Familial_hemiplegic_migraine|Severe_myoclonic_epilepsy_in_infancy|Generalized_epilepsy_with_febrile_seizures_plus,_type_2|Familial_hemiplegic_migraine_type_3|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.166046935T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:15213|Illumina_Clinical_Services_Laboratory,Illumina:26243;CLINVAR_GENEINFO=SCN1A:6323;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7580482	GT:AD:DP:GQ:PL	0/1:22,36:58:99:1084,0,484
chr2	166047515	rs11690959	G	A	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.566;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11690959;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|8/25|c.1170+112C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|8/25|c.1170+112C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|8/25|c.1170+112C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|10/27|c.1170+112C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2470;p3_1000G_AF=0.493211;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=19489;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.5408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166904025;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:86:86,0,102
chr2	166047836	rs1461193	G	A	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=0.605;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1461193;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|7/25|c.1029-68C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|7/25|c.1029-68C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|7/25|c.1029-68C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|9/27|c.1029-68C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3954;p3_1000G_AF=0.789537;p3_1000G_AFR_AF=0.8487;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=16788;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.6918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166904346;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:130,0,223
chr2	166048865	rs1542484;496114	A	G	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-1.372;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1542484;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|7/25|c.1028+21T>C||||||,G|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|7/25|c.1028+21T>C||||||,G|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|7/25|c.1028+21T>C||||||,G|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|9/27|c.1028+21T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2494;p3_1000G_AF=0.498003;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=17039;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.5417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166905375;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1531,2867;ESP6500_AA_AGE=479.5+/-358.5;ESP6500_AA_GTC=253,1025,921;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=69;ESP6500_EA_AC=4660,3930;ESP6500_EA_AGE=598.1+/-393.9;ESP6500_EA_GTC=1263,2134,898;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006920.4:intron,NM_001202435.1:intron,NM_001165964.1:intron,NM_001165963.1:intron;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166048865;ESP6500_GTC=1516,3159,1819;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.1028+21T>C,NM_001202435.1:c.1028+21T>C,NM_001165964.1:c.1028+21T>C,NM_001165963.1:c.1028+21T>C;ESP6500_MAF=45.7509,34.8113,47.6671;ESP6500_TAC=6191,6797;CLINVAR_ALLELEID=486945;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.166048865A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN1A:6323;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1542484	GT:AD:DP:GQ:PL	0/1:17,8:25:99:198,0,394
chr2	166048970	rs994399;378510	G	A	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.881;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.22;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs994399;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|6/25|c.965-21C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|6/25|c.965-21C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|6/25|c.965-21C>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|8/27|c.965-21C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3551;p3_1000G_AF=0.709065;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=17496;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.6909;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166905480;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2510,1894;ESP6500_AA_AGE=535.3+/-374.2;ESP6500_AA_GTC=705,1100,397;ESP6500_CDS_SIZES=NM_006920.4:5997,NM_001202435.1:6030,NM_001165964.1:5946,NM_001165963.1:6030;ESP6500_CG=5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=57;ESP6500_EA_AC=5798,2788;ESP6500_EA_AGE=436.4+/-358.3;ESP6500_EA_GTC=1946,1906,441;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006920.4:intron,NM_001202435.1:intron,NM_001165964.1:intron,NM_001165963.1:intron;ESP6500_GL=SCN1A;ESP6500_GRCh38_POSITION=2:166048970;ESP6500_GTC=2651,3006,838;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006920.4:c.965-21C>T,NM_001202435.1:c.965-21C>T,NM_001165964.1:c.965-21C>T,NM_001165963.1:c.965-21C>T;ESP6500_MAF=32.4715,43.0064,36.0431;ESP6500_TAC=8308,4682;CLINVAR_ALLELEID=365909;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.166048970G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN1A:6323;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=994399	GT:AD:DP:GQ:PL	0/1:5,5:10:99:133,0,177
chr2	166053034	rs3812718;12897	C	T	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.551;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=3.059;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.63;SOR=0.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3812718;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|4/25|c.603-91G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|4/25|c.603-91G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|4/25|c.603-91G>A||||||,T|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|6/27|c.603-91G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2471;p3_1000G_AF=0.493411;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=19021;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.5408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166909544;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.4934;CLINVAR_ALLELEID=27936;CLINVAR_CLNDISDB=MedGen:C2751756|MedGen:CN236494|MedGen:CN236543|MedGen:CN240589|MedGen:CN240594;CLINVAR_CLNDN=Febrile_seizures,_familial,_3a|carbamazepine_response_-_Dosage|phenytoin_response_-_Dosage|antiepileptics_response_-_Efficacy|carbamazepine_response_-_Efficacy;CLINVAR_CLNHGVS=NC_000002.12:g.166053034C>T;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=drug_response;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:182389.0016|PharmGKB_Clinical_Annotation:613978931|PharmGKB_Clinical_Annotation:613978937|PharmGKB:1447961401|PharmGKB:1447961401PA143485705|PharmGKB:1447961401PA448785|PharmGKB:613978931|PharmGKB:613978931PA448785|PharmGKB:613978937|PharmGKB:613978937PA450947;CLINVAR_GENEINFO=SCN1A:6323;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3812718	GT:AD:DP:GQ:PL	0/1:21,19:40:99:494,0,595
chr2	166053049	rs3812719	C	A	439.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.512;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.697;SOR=0.377;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3812719;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding|4/25|c.603-106G>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding|4/25|c.603-106G>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding|4/25|c.603-106G>T||||||,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|6/27|c.603-106G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3551;p3_1000G_AF=0.709065;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=19168;p3_1000G_EAS_AF=0.8899;p3_1000G_EUR_AF=0.6909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166909559;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,17:36:99:468,0,487
chr2	166073704	rs566839	T	A	687.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.77;SOR=4.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs566839;dbSNPBuildID=83;ANN=A|upstream_gene_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165963.1|protein_coding||c.-83A>T|||||65|,A|upstream_gene_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001165964.1|protein_coding||c.-83A>T|||||65|,A|upstream_gene_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_006920.4|protein_coding||c.-83A>T|||||65|,A|intron_variant|MODIFIER|SCN1A|SCN1A|transcript|NM_001202435.1|protein_coding|2/27|c.-49-34A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4935;p3_1000G_AF=0.985423;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17801;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=166930214;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:716,57,0
chr2	166203939	rs10180721;258888	A	T	307.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10180721;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|LOC101929680|LOC101929680|transcript|NR_110260.1|pseudogene|4/11|n.611+4121A>T||||||,T|intron_variant|MODIFIER|SCN9A|SCN9A|transcript|NM_002977.3|protein_coding|26/26|c.4741+16T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4514;p3_1000G_AF=0.901358;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=16576;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.8738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167060449;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3666,260;ESP6500_AA_GTC=1711,244,8;ESP6500_CDS_SIZES=NM_002977.3:5934;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=16;ESP6500_EA_AC=7233,1129;ESP6500_EA_GTC=3117,999,65;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002977.3:intron;ESP6500_GL=SCN9A;ESP6500_GRCh38_POSITION=2:166203939;ESP6500_GTC=4828,1243,73;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002977.3:c.4741+16T>A;ESP6500_MAF=13.5016,6.6225,11.3037;ESP6500_TAC=10899,1389;CLINVAR_ALLELEID=250346;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.166203939A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN9A:6335|LOC101929680:101929680;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10180721	GT:AD:DP:GQ:PL	1/1:0,11:11:33:336,33,0
chr2	166204470	rs77944059;rs150633320;167657	GAAAC	G	752.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.16;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs77944059;dbSNPBuildID=131;ANN=G|splice_region_variant&intron_variant|LOW|SCN9A|SCN9A|transcript|NM_002977.3|protein_coding|24/26|c.4366-10_4366-7delGTTT||||||,G|intron_variant|MODIFIER|LOC101929680|LOC101929680|transcript|NR_110260.1|pseudogene|4/11|n.611+4660_611+4663delCAAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4501;p3_1000G_AF=0.898762;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=13945;p3_1000G_EAS_AF=0.9464;p3_1000G_EUR_AF=0.8738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167060980;p3_1000G_GRCH37_REF=GAAAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=INDEL;ESP6500_AA_AC=3879,285;ESP6500_AA_GTC=1812,255,15;ESP6500_CDS_SIZES=NM_002977.3:5934;ESP6500_CG=-1.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=48;ESP6500_EA_AC=7077,1123;ESP6500_EA_GTC=3058,961,81;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002977.3:intron;ESP6500_GL=SCN9A;ESP6500_GRCh38_POSITION=2:166204470;ESP6500_GTC=4870,1216,96;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002977.3:c.4366-10_4366-7del4;ESP6500_MAF=13.6951,6.8444,11.3879;ESP6500_TAC=10956,1408;CLINVAR_ALLELEID=178055;CLINVAR_CLNDISDB=MedGen:C0002768|MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED_CT:230437002|MedGen:C1833661,OMIM:167400,Orphanet:ORPHA46348|MedGen:C3276709|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN239386|MedGen:CN239438;CLINVAR_CLNDN=Congenital_Indifference_to_Pain|Severe_myoclonic_epilepsy_in_infancy|Paroxysmal_extreme_pain_disorder|Small_fiber_neuropathy|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Familial_Febrile_Seizures|Inherited_Erythromelalgia;CLINVAR_CLNHGVS=NC_000002.12:g.166204471_166204474delAAAC;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=HGMD:CD072486|Illumina_Clinical_Services_Laboratory,Illumina:498082;CLINVAR_GENEINFO=SCN9A:6335|LOC101929680:101929680;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=77944059	GT:AD:DP:GQ:PL	1/1:0,18:18:54:790,54,0
chr2	166228614	rs10199799	T	G	265.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.39;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10199799;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|LOC101929680|LOC101929680|transcript|NR_110260.1|pseudogene|4/11|n.612-19581T>G||||||,G|intron_variant|MODIFIER|SCN9A|SCN9A|transcript|NM_002977.3|protein_coding|22/26|c.4173+77A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4460;p3_1000G_AF=0.890575;p3_1000G_AFR_AF=0.9175;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=15035;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.8738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167085124;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:294,21,0
chr2	166228631	rs58519838	CTT	C	450.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=4.977;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58519838;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|LOC101929680|LOC101929680|transcript|NR_110260.1|pseudogene|4/11|n.612-19563_612-19562delTT||||||,C|intron_variant|MODIFIER|SCN9A|SCN9A|transcript|NM_002977.3|protein_coding|22/26|c.4173+58_4173+59delAA||||||;p3_1000G_AC=3666;p3_1000G_AF=0.732029;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=16080;p3_1000G_EAS_AF=0.7937;p3_1000G_EUR_AF=0.7952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167085141;p3_1000G_GRCH37_REF=CTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:488,33,0
chr2	166233532	rs722204	G	A	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs722204;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|LOC101929680|LOC101929680|transcript|NR_110260.1|pseudogene|4/11|n.612-14663G>A||||||,A|intron_variant|MODIFIER|SCN9A|SCN9A|transcript|NM_002977.3|protein_coding|20/26|c.3769-70C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3810;p3_1000G_AF=0.760783;p3_1000G_AFR_AF=0.6921;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=16437;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167090042;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8078;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:261,21,0
chr2	166242648	rs6746030;440255	A	G	1479.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6746030;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|SCN9A|SCN9A|transcript|NM_002977.3|protein_coding|19/27|c.3448T>C|p.Trp1150Arg|3789/9760|3448/5934|1150/1977||,G|intron_variant|MODIFIER|LOC101929680|LOC101929680|transcript|NR_110260.1|pseudogene|4/11|n.612-5547A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4443;p3_1000G_AF=0.887181;p3_1000G_AFR_AF=0.8979;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=17687;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.8738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167099158;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3274,402;ESP6500_AA_GTC=1458,358,22;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...6335&amp%3Brs...6746030;ESP6500_CDS_SIZES=NM_002977.3:5934;ESP6500_CG=3.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=57;ESP6500_EA_AC=7029,1037;ESP6500_EA_GTC=3051,927,55;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002977.3:missense;ESP6500_GL=SCN9A;ESP6500_GRCh38_POSITION=2:166242648;ESP6500_GS=101;ESP6500_GTC=4509,1285,77;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002977.3:c.3448T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002977.3:p.(W1150R);ESP6500_MAF=12.8564,10.9358,12.2552;ESP6500_PH=benign:0.0;ESP6500_TAC=10303,1439;CLINVAR_ALLELEID=433906;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.166242648A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:37095;CLINVAR_GENEINFO=SCN9A:6335|LOC101929680:101929680;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6746030	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1508,126,0
chr2	166280610	rs4525717;167660	C	T	716.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.16;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4525717;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|LOC101929680|LOC101929680|transcript|NR_110260.1|pseudogene|8/11|n.1029+3363C>T||||||,T|intron_variant|MODIFIER|SCN9A|SCN9A|transcript|NM_002977.3|protein_coding|13/26|c.2072-15G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.111;p3_1000G_AN=5008;p3_1000G_DP=18638;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.1382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167137120;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2372;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=393,3239;ESP6500_AA_GTC=22,349,1445;ESP6500_CDS_SIZES=NM_002977.3:5934;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=25;ESP6500_EA_AC=979,7137;ESP6500_EA_GTC=58,863,3137;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002977.3:intron;ESP6500_GL=SCN9A;ESP6500_GRCh38_POSITION=2:166280610;ESP6500_GTC=80,1212,4582;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002977.3:c.2072-15G>A;ESP6500_MAF=12.0626,10.8205,11.6786;ESP6500_TAC=1372,10376;CLINVAR_AF_ESP=0.1168;CLINVAR_AF_EXAC=0.19275;CLINVAR_AF_TGP=0.1869;CLINVAR_ALLELEID=178057;CLINVAR_CLNDISDB=MedGen:C0002768|MedGen:C0751122,OMIM:607208,Orphanet:ORPHA33069,SNOMED_CT:230437002|MedGen:C1833661,OMIM:167400,Orphanet:ORPHA46348|MedGen:C3276709|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN239386|MedGen:CN239438;CLINVAR_CLNDN=Congenital_Indifference_to_Pain|Severe_myoclonic_epilepsy_in_infancy|Paroxysmal_extreme_pain_disorder|Small_fiber_neuropathy|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Familial_Febrile_Seizures|Inherited_Erythromelalgia;CLINVAR_CLNHGVS=NC_000002.12:g.166280610C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26332;CLINVAR_GENEINFO=SCN9A:6335|LOC101929680:101929680;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4525717	GT:AD:DP:GQ:PL	1/1:0,23:23:69:745,69,0
chr2	166293183	rs7588632	G	A	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7588632;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|LOC101929680|LOC101929680|transcript|NR_110260.1|pseudogene|8/11|n.1030-1382G>A||||||,A|intron_variant|MODIFIER|SCN9A|SCN9A|transcript|NM_002977.3|protein_coding|9/26|c.1107+48C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3714;p3_1000G_AF=0.741613;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=19171;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.6252;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167149693;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6667;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3276,384;ESP6500_AA_GTC=1476,324,30;ESP6500_CDS_SIZES=NM_002977.3:5934;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=16;ESP6500_EA_AC=4948,3228;ESP6500_EA_GTC=1515,1918,655;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002977.3:intron;ESP6500_GL=SCN9A;ESP6500_GRCh38_POSITION=2:166293183;ESP6500_GTC=2991,2242,685;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002977.3:c.1107+48C>T;ESP6500_MAF=39.4814,10.4918,30.5171;ESP6500_TAC=8224,3612	GT:AD:DP:GQ:PL	1/1:0,17:17:51:495,51,0
chr2	166423252	rs117306770	T	C	87.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=-0.75;SOR=1.565;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117306770;dbSNPBuildID=132;ANN=C|splice_region_variant&intron_variant|LOW|SCN7A|SCN7A|transcript|NM_002976.3|protein_coding|18/24|c.3027+7A>G||||||,C|splice_region_variant&intron_variant|LOW|SCN7A|SCN7A|transcript|NR_045628.1|pseudogene|19/25|n.3251+7A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=28;p3_1000G_AF=0.00559105;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14374;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167279762;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1,3769;ESP6500_AA_GTC=0,1,1884;ESP6500_CDS_SIZES=NM_002976.3:5049;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=82;ESP6500_EA_AC=0,8276;ESP6500_EA_GTC=0,0,4138;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002976.3:intron;ESP6500_GL=SCN7A;ESP6500_GRCh38_POSITION=2:166423252;ESP6500_GTC=0,1,6022;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002976.3:c.3027+7A>G;ESP6500_MAF=0.0,0.0265,0.0083;ESP6500_TAC=1,12045	GT:AD:DP:GQ:PL	0/1:14,5:19:99:116,0,363
chr2	166903438	rs7599152	C	T	491.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7599152;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|XIRP2|XIRP2|transcript|NM_152381.5|protein_coding|1/10|c.-18-27C>T||||||,T|intron_variant|MODIFIER|XIRP2|XIRP2|transcript|NM_001079810.3|protein_coding|1/9|c.-18-27C>T||||||,T|intron_variant|MODIFIER|XIRP2|XIRP2|transcript|NM_001199143.1|protein_coding|1/10|c.-18-27C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3116;p3_1000G_AF=0.622204;p3_1000G_AFR_AF=0.7723;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=18582;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.4076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=167759948;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2724,1004;ESP6500_AA_GTC=980,764,120;ESP6500_CDS_SIZES=NM_152381.5:10650,NM_001199143.1:2916,NM_001079810.3:2817;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=3518,4718;ESP6500_EA_GTC=761,1996,1361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152381.5:intron,NM_001199143.1:intron,NM_001079810.3:intron;ESP6500_GL=XIRP2;ESP6500_GRCh38_POSITION=2:166903438;ESP6500_GTC=1741,2760,1481;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152381.5:c.-45C>T,NM_001199143.1:c.-45C>T,NM_001079810.3:c.-45C>T;ESP6500_MAF=42.7149,26.9313,47.8268;ESP6500_TAC=6242,5722	GT:AD:DP:GQ:PL	1/1:0,16:16:48:520,48,0
chr2	167714534	rs7577934	T	C	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.59;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.765;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7577934;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|XIRP2-LOC105616981|XIRP2-LOC105616981|intergenic_region|XIRP2-LOC105616981|||n.167714534T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1422;p3_1000G_AF=0.283946;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=21352;p3_1000G_EAS_AF=0.2659;p3_1000G_EUR_AF=0.0378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168571044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,16:45:99:474,0,748
chr2	167714978	rs34125069	A	T	489.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.463;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=7.545;MLEAC=1;MLEAF=0.5;MQ=56.7;MQRankSum=0.138;QD=12.56;ReadPosRankSum=0.832;SOR=2.015;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34125069;dbSNPBuildID=126;ANN=T|intergenic_region|MODIFIER|XIRP2-LOC105616981|XIRP2-LOC105616981|intergenic_region|XIRP2-LOC105616981|||n.167714978A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1124;p3_1000G_AF=0.224441;p3_1000G_AFR_AF=0.3986;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=20200;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.0378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168571488;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0573;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,20:39:99:518,0,507
chr2	168129644	rs925846	A	G	991.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=2.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=1.88;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs925846;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|STK39|STK39|transcript|NM_013233.2|protein_coding|9/17|c.1024-38T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4021;p3_1000G_AF=0.802915;p3_1000G_AFR_AF=0.8253;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=19979;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168986154;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3038,670;ESP6500_AA_GTC=1250,538,66;ESP6500_CDS_SIZES=NM_013233.2:1638;ESP6500_CG=4.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=224;ESP6500_EA_AC=6582,1626;ESP6500_EA_GTC=2636,1310,158;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013233.2:intron;ESP6500_GL=STK39;ESP6500_GRCh38_POSITION=2:168129644;ESP6500_GTC=3886,1848,224;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_013233.2:c.1024-38T>C;ESP6500_MAF=19.8099,18.069,19.2682;ESP6500_TAC=9620,2296	GT:AD:DP:GQ:PL	0/1:28,35:63:99:1020,0,678
chr2	168140265	rs2278785	T	C	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.86;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.16;SOR=1.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278785;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|STK39|STK39|transcript|NM_013233.2|protein_coding|7/17|c.840+24A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2450;p3_1000G_AF=0.489217;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=20918;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.2922;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168996775;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1826,1908;ESP6500_AA_GTC=458,910,499;ESP6500_CDS_SIZES=NM_013233.2:1638;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=2357,5845;ESP6500_EA_GTC=329,1699,2073;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013233.2:intron;ESP6500_GL=STK39;ESP6500_GRCh38_POSITION=2:168140265;ESP6500_GTC=787,2609,2572;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_013233.2:c.840+24A>G;ESP6500_MAF=28.7369,48.902,35.0452;ESP6500_TAC=4183,7753	GT:AD:DP:GQ:PL	0/1:10,12:22:99:389,0,240
chr2	168140587	rs2278784	A	G	365.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.806;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.03;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278784;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|STK39|STK39|transcript|NM_013233.2|protein_coding|6/17|c.738+62T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2444;p3_1000G_AF=0.488019;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=21796;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.2863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=168997097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,16:29:99:394,0,337
chr2	168163656	rs2292785	G	A	556.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.924;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.407;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.865;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292785;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|STK39|STK39|transcript|NM_013233.2|protein_coding|4/17|c.572+83C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1910;p3_1000G_AF=0.38139;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=19108;p3_1000G_EAS_AF=0.5804;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169020166;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,16:35:99:0|1:168163656_G_A:585,0,1163
chr2	168163669	rs2292786	C	T	556.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.184;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=-0.675;SOR=0.821;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292786;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|STK39|STK39|transcript|NM_013233.2|protein_coding|4/17|c.572+70G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1910;p3_1000G_AF=0.38139;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=18801;p3_1000G_EAS_AF=0.5804;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169020179;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,15:34:99:0|1:168163656_G_A:585,0,1171
chr2	168247489	rs76179989	T	G	269.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76179989;dbSNPBuildID=131;ANN=G|5_prime_UTR_variant|MODIFIER|STK39|STK39|transcript|NM_013233.2|protein_coding|1/18|c.-54A>C|||||54|;p3_1000G_AA=T|||;p3_1000G_AC=902;p3_1000G_AF=0.180112;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=5039;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.1203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169103999;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:298,30,0
chr2	168631100	rs11347055;rs397873790;rs562082225	GT	G	610.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.769;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=0.338;SOR=1.109;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11347055;dbSNPBuildID=134,142,138;ANN=G|intron_variant|MODIFIER|CERS6|CERS6|transcript|NM_001256126.1|protein_coding|4/10|c.465+69delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CERS6|CERS6|transcript|NM_203463.2|protein_coding|4/9|c.465+69delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:5,27:32:45:648,0,45
chr2	168631158	rs4667585	A	C	603.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.99;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667585;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CERS6|CERS6|transcript|NM_001256126.1|protein_coding|4/10|c.465+116A>C||||||,C|intron_variant|MODIFIER|CERS6|CERS6|transcript|NM_203463.2|protein_coding|4/9|c.465+116A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2812;p3_1000G_AF=0.561502;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=11968;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169487668;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:632,51,0
chr2	168714904	rs13014488	G	T	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.719;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=1.18;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13014488;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|CERS6|CERS6|transcript|NM_001256126.1|protein_coding|6/10|c.610-97G>T||||||,T|intron_variant|MODIFIER|CERS6|CERS6|transcript|NM_203463.2|protein_coding|6/9|c.610-97G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1482;p3_1000G_AF=0.295927;p3_1000G_AFR_AF=0.0545;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=22505;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.4901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169571414;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:268,0,210
chr2	168818145	rs830026	T	C	194.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs830026;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|6/20|c.114-6489T>C||||||,C|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|2/15|c.114-6489T>C||||||,C|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|2/14|c.113+6493T>C||||||,C|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|1/14|c.-121-6489T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.8458;p3_1000G_AN=5008;p3_1000G_DP=18143;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169674655;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:168818145_T_C:223,15,0
chr2	168818153	rs830025	A	T	194.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs830025;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|6/20|c.114-6481A>T||||||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|2/15|c.114-6481A>T||||||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|2/14|c.113+6501A>T||||||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|1/14|c.-121-6481A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4562;p3_1000G_AF=0.910942;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.8458;p3_1000G_AN=5008;p3_1000G_DP=17891;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169674663;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:168818145_T_C:223,15,0
chr2	168818254	rs830024	C	G	404.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs830024;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|6/20|c.114-6380C>G||||||,G|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|2/15|c.114-6380C>G||||||,G|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|2/14|c.113+6602C>G||||||,G|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|1/14|c.-121-6380C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3631;p3_1000G_AF=0.72504;p3_1000G_AFR_AF=0.556;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=16552;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.6779;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169674764;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:433,36,0
chr2	168824641	rs3732031	C	T	379.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.603;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.536;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.077;SOR=1.08;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732031;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|7/21|c.121C>T|p.Leu41Leu|879/2819|121/1692|41/563||,T|synonymous_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|3/16|c.121C>T|p.Leu41Leu|178/1947|121/1521|41/506||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|2/15|c.-114C>T||||||,T|5_prime_UTR_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|2/15|c.-114C>T|||||3554|,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|2/14|c.114-3517C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=535;p3_1000G_AF=0.106829;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=21300;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.0308;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169681151;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=140,3642;ESP6500_AA_GTC=2,136,1753;ESP6500_CDS_SIZES=NM_052946.3:1287,NM_001171632.1:1437,NM_001171631.1:1692,NM_001039724.3:1521;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=79;ESP6500_EA_AC=273,7981;ESP6500_EA_GTC=6,261,3860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052946.3:utr-5,NM_001171632.1:intron,NM_001171631.1:coding-synonymous,NM_001039724.3:coding-synonymous;ESP6500_GL=NOSTRIN;ESP6500_GRCh38_POSITION=2:168824641;ESP6500_GTC=8,397,5613;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052946.3:c.-3554C>T,NM_001171632.1:c.114-3517C>T,NM_001171631.1:c.121C>T,NM_001039724.3:c.121C>T;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_001171631.1:p.(L41),NM_001039724.3:p.(L41);ESP6500_MAF=3.3075,3.7017,3.4314;ESP6500_TAC=413,11623	GT:AD:DP:GQ:PL	0/1:20,18:38:99:408,0,485
chr2	168824768	rs11374385	T	TTTTGTTTGTTTG	312.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=4.407;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11374385;dbSNPBuildID=135;ANN=TTTTGTTTGTTTG|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|7/20|c.197+63_197+74dupGTTTGTTTGTTT||||||INFO_REALIGN_3_PRIME,TTTTGTTTGTTTG|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|3/15|c.197+63_197+74dupGTTTGTTTGTTT||||||INFO_REALIGN_3_PRIME,TTTTGTTTGTTTG|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|2/14|c.114-3378_114-3367dupGTTTGTTTGTTT||||||INFO_REALIGN_3_PRIME,TTTTGTTTGTTTG|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|2/14|c.-38+63_-38+74dupGTTTGTTTGTTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1300;p3_1000G_AF=0.259585;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=28395;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.1849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169681278;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:23:350,23,0
chr2	168834219	rs522893	T	C	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.07;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.352;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.675;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs522893;dbSNPBuildID=83;ANN=C|splice_region_variant&intron_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|10/20|c.406-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|6/15|c.406-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|5/14|c.322-8T>C||||||,C|splice_region_variant&intron_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|5/14|c.172-8T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3128;p3_1000G_AF=0.624601;p3_1000G_AFR_AF=0.5991;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=19025;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.5368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169690729;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2194,1534;ESP6500_AA_GTC=632,930,302;ESP6500_CDS_SIZES=NM_052946.3:1287,NM_001171632.1:1437,NM_001171631.1:1692,NM_001039724.3:1521;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=77;ESP6500_EA_AC=4189,4005;ESP6500_EA_GTC=1042,2105,950;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052946.3:intron,NM_001171632.1:intron,NM_001171631.1:intron,NM_001039724.3:intron;ESP6500_GL=NOSTRIN;ESP6500_GRCh38_POSITION=2:168834219;ESP6500_GTC=1674,3035,1252;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052946.3:c.172-8T>C,NM_001171632.1:c.322-8T>C,NM_001171631.1:c.406-8T>C,NM_001039724.3:c.406-8T>C;ESP6500_MAF=48.8772,41.1481,46.4603;ESP6500_TAC=6383,5539	GT:AD:DP:GQ:PL	0/1:14,19:33:99:548,0,298
chr2	168850918	rs540652	C	T	691.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.695;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=2.145;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.591;SOR=0.416;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs540652;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|13/21|c.713C>T|p.Thr238Ile|1471/2819|713/1692|238/563||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|8/15|c.631-166C>T||||||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|7/14|c.547-166C>T||||||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|7/14|c.397-166C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2311;p3_1000G_AF=0.461462;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=19605;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169707428;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=321,1063;ESP6500_AA_GTC=36,249,407;ESP6500_CDS_SIZES=NM_052946.3:1287,NM_001171632.1:1437,NM_001171631.1:1692,NM_001039724.3:1521;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=239;ESP6500_EA_AC=1501,1681;ESP6500_EA_GTC=355,791,445;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052946.3:intron,NM_001171632.1:intron,NM_001171631.1:missense,NM_001039724.3:intron;ESP6500_GL=NOSTRIN;ESP6500_GRCh38_POSITION=2:168850918;ESP6500_GS=.,.,89,.;ESP6500_GTC=391,1040,852;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052946.3:c.397-166C>T,NM_001171632.1:c.547-166C>T,NM_001171631.1:c.713C>T,NM_001039724.3:c.631-166C>T;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_001171631.1:p.(T238I),.;ESP6500_MAF=47.1716,23.1936,39.9036;ESP6500_PH=.,.,benign:0.001,.;ESP6500_TAC=1822,2744	GT:AD:DP:GQ:PL	0/1:37,32:69:99:720,0,1106
chr2	168851042	rs488621	A	G	1107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=1.739;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.562;SOR=0.595;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs488621;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|13/20|c.801+36A>G||||||,G|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|8/15|c.631-42A>G||||||,G|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|7/14|c.547-42A>G||||||,G|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|7/14|c.397-42A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=2344;p3_1000G_AF=0.468051;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=22080;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169707552;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=954,2958;ESP6500_AA_GTC=127,700,1129;ESP6500_CDS_SIZES=NM_052946.3:1287,NM_001171632.1:1437,NM_001171631.1:1692,NM_001039724.3:1521;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=96;ESP6500_EA_AC=3802,4522;ESP6500_EA_GTC=865,2072,1225;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052946.3:intron,NM_001171632.1:intron,NM_001171631.1:intron,NM_001039724.3:intron;ESP6500_GL=NOSTRIN;ESP6500_GRCh38_POSITION=2:168851042;ESP6500_GTC=992,2772,2354;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052946.3:c.397-42A>G,NM_001171632.1:c.547-42A>G,NM_001171631.1:c.801+36A>G,NM_001039724.3:c.631-42A>G;ESP6500_MAF=45.6752,24.3865,38.8689;ESP6500_TAC=4756,7480	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1136,0,1193
chr2	168856068	rs139754316	C	T	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.45;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.566;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139754316;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|16/20|c.1135+608C>T||||||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|11/15|c.964+608C>T||||||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|10/14|c.880+608C>T||||||,T|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|10/14|c.730+608C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=32;p3_1000G_AF=0.00638978;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20250;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169712578;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:117,0,123
chr2	168856574	rs11385898;rs11408440	T	TA	179.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.208;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.929;SOR=1.112;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11385898;dbSNPBuildID=130,137;ANN=TA|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|16/20|c.1136-105dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|11/15|c.965-105dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|10/14|c.881-105dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|10/14|c.731-105dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2677;p3_1000G_AF=0.534545;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs556860411;p3_1000G_DP=21033;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169713084;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,10:17:99:217,0,143
chr2	168860669	rs71003061;rs879653652	T	TA	134.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.921;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=-1.465;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71003061;dbSNPBuildID=149,130;ANN=TA|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|18/20|c.1351-114dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|13/15|c.1180-114dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|12/14|c.1096-114dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|12/14|c.946-114dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2494;p3_1000G_AF=0.498003;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=26812;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169717179;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5481;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,6:8:29:0|1:168860668_C_A:172,0,29
chr2	168864867	rs479661	G	A	1076.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.69;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs479661;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|21/21|c.1589G>A|p.Gly530Glu|2347/2819|1589/1692|530/563||,A|missense_variant|MODERATE|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|16/16|c.1418G>A|p.Gly473Glu|1475/1947|1418/1521|473/506||,A|missense_variant|MODERATE|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|15/15|c.1334G>A|p.Gly445Glu|1391/1863|1334/1437|445/478||,A|missense_variant|MODERATE|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|15/15|c.1184G>A|p.Gly395Glu|1382/1854|1184/1287|395/428||;p3_1000G_AA=A|||;p3_1000G_AC=4543;p3_1000G_AF=0.907149;p3_1000G_AFR_AF=0.9629;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=20528;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.832;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169721377;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9448;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3529,205;ESP6500_AA_GTC=1668,193,6;ESP6500_CDS_SIZES=NM_052946.3:1287,NM_001171632.1:1437,NM_001171631.1:1692,NM_001039724.3:1521;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=138;ESP6500_EA_AC=6827,1387;ESP6500_EA_GTC=2831,1165,111;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052946.3:missense,NM_001171632.1:missense,NM_001171631.1:missense,NM_001039724.3:missense;ESP6500_GL=NOSTRIN;ESP6500_GRCh38_POSITION=2:168864867;ESP6500_GS=98,98,98,98;ESP6500_GTC=4499,1358,117;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052946.3:c.1184G>A,NM_001171632.1:c.1334G>A,NM_001171631.1:c.1589G>A,NM_001039724.3:c.1418G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052946.3:p.(G395E),NM_001171632.1:p.(G445E),NM_001171631.1:p.(G530E),NM_001039724.3:p.(G473E);ESP6500_MAF=16.8858,5.4901,13.3244;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10356,1592	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:84:1|1:168864867_G_A:1105,84,0
chr2	168864871	rs3931	A	G	464.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.284;SOR=0.678;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3931;dbSNPBuildID=36;ANN=G|synonymous_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_001171631.1|protein_coding|21/21|c.1593A>G|p.Gly531Gly|2351/2819|1593/1692|531/563||,G|synonymous_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_001039724.3|protein_coding|16/16|c.1422A>G|p.Gly474Gly|1479/1947|1422/1521|474/506||,G|synonymous_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_001171632.1|protein_coding|15/15|c.1338A>G|p.Gly446Gly|1395/1863|1338/1437|446/478||,G|synonymous_variant|LOW|NOSTRIN|NOSTRIN|transcript|NM_052946.3|protein_coding|15/15|c.1188A>G|p.Gly396Gly|1386/1854|1188/1287|396/428||;p3_1000G_AA=A|||;p3_1000G_AC=1038;p3_1000G_AF=0.207268;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=20541;p3_1000G_EAS_AF=0.2688;p3_1000G_EUR_AF=0.2903;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169721381;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=376,3372;ESP6500_AA_GTC=16,344,1514;ESP6500_CDS_SIZES=NM_052946.3:1287,NM_001171632.1:1437,NM_001171631.1:1692,NM_001039724.3:1521;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=146;ESP6500_EA_AC=2608,5608;ESP6500_EA_GTC=418,1772,1918;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052946.3:coding-synonymous,NM_001171632.1:coding-synonymous,NM_001171631.1:coding-synonymous,NM_001039724.3:coding-synonymous;ESP6500_GL=NOSTRIN;ESP6500_GRCh38_POSITION=2:168864871;ESP6500_GTC=434,2116,3432;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_052946.3:c.1188A>G,NM_001171632.1:c.1338A>G,NM_001171631.1:c.1593A>G,NM_001039724.3:c.1422A>G;ESP6500_HGVS_PROTEIN_VAR=NM_052946.3:p.(G396),NM_001171632.1:p.(G446),NM_001171631.1:p.(G531),NM_001039724.3:p.(G474);ESP6500_MAF=31.7429,10.032,24.9415;ESP6500_TAC=2984,8980	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,17:28:99:0|1:168864867_G_A:493,0,259
chr2	168871369	rs11420514	G	GA	85.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.25;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs61598834;dbSNPBuildID=131;ANN=GA|3_prime_UTR_variant|MODIFIER|SPC25|SPC25|transcript|NM_020675.3|protein_coding|7/7|c.*61dupT|||||61|;p3_1000G_AA=?|AAAAAAA|AAAAAAAA|unsure;p3_1000G_AC=4572;p3_1000G_AF=0.912939;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.8112;p3_1000G_AN=5008;p3_1000G_DP=15553;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169727879;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9448;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:122,12,0
chr2	168871559	rs552439368;rs5836210	GAAA	G	324.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.43;SOR=1.402;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=130,142;ANN=G|splice_region_variant&intron_variant|LOW|SPC25|SPC25|transcript|NM_020675.3|protein_coding|6/6|c.551-7_551-5delTTT||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:28:333,28,0
chr2	168906638	rs560887	T	C	1146.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs560887;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|G6PC2|G6PC2|transcript|NM_021176.2|protein_coding|3/4|c.441-26T>C||||||,C|intron_variant|MODIFIER|G6PC2|G6PC2|transcript|NM_001081686.1|protein_coding|3/3|c.441-930T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4442;p3_1000G_AF=0.886981;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=18201;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169763148;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8988;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4162,244;ESP6500_AA_AGE=140.0+/-175.5;ESP6500_AA_GTC=1966,230,7;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...18451265,19060907,19060910,20081858,22286219,22399527,22508271,22581228,22916037;ESP6500_CDS_SIZES=NM_021176.2:1068,NM_001081686.1:465;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=108;ESP6500_EA_AC=6141,2459;ESP6500_EA_AGE=405.2+/-348.4;ESP6500_EA_GTC=2183,1775,342;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021176.2:intron,NM_001081686.1:intron;ESP6500_GL=G6PC2;ESP6500_GRCh38_POSITION=2:168906638;ESP6500_GTC=4149,2005,349;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...18451265,19060907,19060910,20081858,22286219,22399527,22508271,22581228,22916037;ESP6500_HGVS_CDNA_VAR=NM_021176.2:c.441-26T>C,NM_001081686.1:c.441-930T>C;ESP6500_MAF=28.593,5.5379,20.7827;ESP6500_TAC=10303,2703	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1175,111,0
chr2	168907666	rs492594	G	C	1119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.725;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=4.879;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16;ReadPosRankSum=1.51;SOR=1.3;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs492594;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|G6PC2|G6PC2|transcript|NM_021176.2|protein_coding|5/5|c.655G>C|p.Val219Leu|747/3081|655/1068|219/355||,C|3_prime_UTR_variant|MODIFIER|G6PC2|G6PC2|transcript|NM_001081686.1|protein_coding|4/4|c.*74G>C|||||74|;p3_1000G_AA=C|||;p3_1000G_AC=2321;p3_1000G_AF=0.463458;p3_1000G_AFR_AF=0.3101;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=21028;p3_1000G_EAS_AF=0.4335;p3_1000G_EUR_AF=0.4443;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169764176;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1416,2990;ESP6500_AA_AGE=685.6+/-404.6;ESP6500_AA_GTC=221,974,1008;ESP6500_CDS_SIZES=NM_021176.2:1068,NM_001081686.1:465;ESP6500_CG=3.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=186;ESP6500_EA_AC=3923,4677;ESP6500_EA_AGE=605.1+/-394.9;ESP6500_EA_GTC=899,2125,1276;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_021176.2:missense,NM_001081686.1:utr-3;ESP6500_GL=G6PC2;ESP6500_GRCh38_POSITION=2:168907666;ESP6500_GS=32,.;ESP6500_GTC=1120,3099,2284;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_021176.2:c.655G>C,NM_001081686.1:c.*74G>C;ESP6500_HGVS_PROTEIN_VAR=NM_021176.2:p.(V219L),.;ESP6500_MAF=45.6163,32.138,41.0503;ESP6500_PH=benign:0.0,.;ESP6500_TAC=5339,7667	GT:AD:DP:GQ:PL	0/1:32,38:70:99:1148,0,928
chr2	168923856	rs579275	T	C	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.395;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=3.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.231;SOR=0.259;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs579275;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|27/27|c.3766-34A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2491;p3_1000G_AF=0.497404;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=20566;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.5338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169780366;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1099,3033;ESP6500_AA_GTC=163,773,1130;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=51;ESP6500_EA_AC=4624,3828;ESP6500_EA_GTC=1263,2098,865;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003742.2:intron;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:168923856;ESP6500_GTC=1426,2871,1995;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.3766-34A>G;ESP6500_MAF=45.2911,26.5973,45.4784;ESP6500_TAC=5723,6861	GT:AD:DP:GQ:PL	0/1:24,21:45:99:491,0,698
chr2	168932506	rs497692;259152	T	C	391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.623;SOR=0.904;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs497692;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|24/28|c.3084A>G|p.Ala1028Ala|3210/4775|3084/3966|1028/1321||;p3_1000G_AA=C|||;p3_1000G_AC=2488;p3_1000G_AF=0.496805;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19594;p3_1000G_EAS_AF=0.6409;p3_1000G_EUR_AF=0.5318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169789016;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6708;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1076,2938;ESP6500_AA_GTC=160,756,1091;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=-10.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=82;ESP6500_EA_AC=4552,3814;ESP6500_EA_GTC=1240,2072,871;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003742.2:coding-synonymous;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:168932506;ESP6500_GTC=1400,2828,1962;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.3084A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003742.2:p.(A1028);ESP6500_MAF=45.5893,26.8062,45.4604;ESP6500_TAC=5628,6752;CLINVAR_AF_ESP=0.4546;CLINVAR_AF_TGP=0.4968;CLINVAR_ALLELEID=250356;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239338;CLINVAR_CLNDN=not_specified|Familial_Intrahepatic_Cholestasis;CLINVAR_CLNHGVS=NC_000002.12:g.168932506T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26443;CLINVAR_GENEINFO=ABCB11:8647;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=497692	GT:AD:DP:GQ:PL	0/1:17,14:31:99:420,0,432
chr2	168944978	rs853789;259148	A	G	891.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs853789;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|19/27|c.2344-17T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4283;p3_1000G_AF=0.855232;p3_1000G_AFR_AF=0.9372;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=16148;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.6471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169801488;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8517;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3172,342;ESP6500_AA_GTC=1432,308,17;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=16;ESP6500_EA_AC=5477,2505;ESP6500_EA_GTC=1890,1697,404;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003742.2:intron;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:168944978;ESP6500_GTC=3322,2005,421;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.2344-17T>C;ESP6500_MAF=31.3831,9.7325,24.7651;ESP6500_TAC=8649,2847;CLINVAR_ALLELEID=250359;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.168944978A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ABCB11:8647;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=853789	GT:AD:DP:GQ:PL	1/1:0,26:26:78:920,78,0
chr2	168958145	rs853772;259147	G	T	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.369;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.61;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs853772;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|18/27|c.2179-17C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2492;p3_1000G_AF=0.497604;p3_1000G_AFR_AF=0.2307;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=19254;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.5109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169814655;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1014,2748;ESP6500_AA_GTC=140,734,1007;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=52;ESP6500_EA_AC=4382,3832;ESP6500_EA_GTC=1174,2034,899;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003742.2:intron;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:168958145;ESP6500_GTC=1314,2768,1906;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.2179-17C>A;ESP6500_MAF=46.6521,26.9537,45.0568;ESP6500_TAC=5396,6580;CLINVAR_AF_ESP=0.4506;CLINVAR_AF_TGP=0.4976;CLINVAR_ALLELEID=250360;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.168958145G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ABCB11:8647;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=853772	GT:AD:DP:GQ:PL	0/1:14,14:28:99:418,0,390
chr2	168970367	rs2193831	C	T	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.927;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=1.61;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2193831;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|14/27|c.1639-152G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=2986;p3_1000G_AF=0.596246;p3_1000G_AFR_AF=0.553;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=19756;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169826877;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,16:33:99:389,0,445
chr2	168971767	rs2241341	G	A	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.534;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.489;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241341;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|14/27|c.1638+80C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2985;p3_1000G_AF=0.596046;p3_1000G_AFR_AF=0.553;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=20187;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169828277;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:94:94,0,157
chr2	168971815	rs2241340	A	G	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.987;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241340;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|14/27|c.1638+32T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2986;p3_1000G_AF=0.596246;p3_1000G_AFR_AF=0.553;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=20506;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169828325;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2158,1554;ESP6500_AA_GTC=636,886,334;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=89;ESP6500_EA_AC=4924,3280;ESP6500_EA_GTC=1496,1932,674;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003742.2:intron;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:168971815;ESP6500_GTC=2132,2818,1008;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.1638+32T>C;ESP6500_MAF=39.9805,41.8642,40.5673;ESP6500_TAC=7082,4834	GT:AD:DP:GQ:PL	0/1:6,6:12:99:187,0,159
chr2	168973645	rs2287623	G	A	682.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.675;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=1.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.896;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287623;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|13/27|c.1434+70C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2990;p3_1000G_AF=0.597045;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=21002;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169830155;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,28:59:99:711,0,1057
chr2	168973818	rs2287622;194214	A	G	1296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.72;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=1.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.735;SOR=0.539;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287622;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|13/28|c.1331T>C|p.Val444Ala|1457/4775|1331/3966|444/1321||;p3_1000G_AA=A|||;p3_1000G_AC=2948;p3_1000G_AF=0.588658;p3_1000G_AFR_AF=0.5537;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=19286;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.6044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169830328;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6033;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2194,1552;ESP6500_AA_GTC=652,890,331;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=129;ESP6500_EA_AC=4941,3289;ESP6500_EA_GTC=1500,1941,674;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003742.2:missense;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:168973818;ESP6500_GS=64;ESP6500_GTC=2152,2831,1005;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.1331T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003742.2:p.(V444A);ESP6500_MAF=39.9635,41.4309,40.4225;ESP6500_PH=benign:0.001;ESP6500_TAC=7135,4841;CLINVAR_ALLELEID=191377;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239338;CLINVAR_CLNDN=not_specified|Familial_Intrahepatic_Cholestasis;CLINVAR_CLNHGVS=NC_000002.12:g.168973818A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26457|UniProtKB_(protein):O95342#VAR_013333;CLINVAR_GENEINFO=ABCB11:8647;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2287622	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1325,0,1564
chr2	168986299	rs2287618;259158	T	C	674.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.34;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2287618;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|9/27|c.909-15A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3877;p3_1000G_AF=0.774161;p3_1000G_AFR_AF=0.8684;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=18914;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.7286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169842809;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3103,591;ESP6500_AA_GTC=1324,455,68;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=89;ESP6500_EA_AC=5686,2504;ESP6500_EA_GTC=1970,1746,379;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003742.2:intron;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:168986299;ESP6500_GTC=3294,2201,447;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.909-15A>G;ESP6500_MAF=30.5739,15.9989,26.0434;ESP6500_TAC=8789,3095;CLINVAR_ALLELEID=250364;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239338;CLINVAR_CLNDN=not_specified|Familial_Intrahepatic_Cholestasis;CLINVAR_CLNHGVS=NC_000002.12:g.168986299T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26465;CLINVAR_GENEINFO=ABCB11:8647;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2287618	GT:AD:DP:GQ:PL	1/1:0,23:23:69:703,69,0
chr2	168990902	rs2287616;259157	A	G	781.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.267;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.482;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.28;SOR=0.405;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287616;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|9/28|c.807T>C|p.Tyr269Tyr|933/4775|807/3966|269/1321||;p3_1000G_AA=A|||;p3_1000G_AC=324;p3_1000G_AF=0.0646965;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=20771;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169847412;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=15,3739;ESP6500_AA_GTC=0,15,1862;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=130;ESP6500_EA_AC=6,8222;ESP6500_EA_GTC=0,6,4108;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003742.2:coding-synonymous;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:168990902;ESP6500_GTC=0,21,5970;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.807T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003742.2:p.(Y269);ESP6500_MAF=0.0729,0.3996,0.1753;ESP6500_TAC=21,11961;CLINVAR_AF_ESP=0.0018;CLINVAR_AF_EXAC=0.03064;CLINVAR_AF_TGP=0.0647;CLINVAR_ALLELEID=250366;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239338;CLINVAR_CLNDN=not_specified|Familial_Intrahepatic_Cholestasis;CLINVAR_CLNHGVS=NC_000002.12:g.168990902A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:81673;CLINVAR_GENEINFO=ABCB11:8647;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2287616	GT:AD:DP:GQ:PL	0/1:21,32:53:99:810,0,487
chr2	168991012	rs2287615	A	T	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-0.507;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287615;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|8/27|c.784-87T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=322;p3_1000G_AF=0.0642971;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=21131;p3_1000G_EAS_AF=0.2857;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169847522;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:242,0,187
chr2	169014345	rs3815675;259143	A	G	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=1.78;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3815675;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|ABCB11|ABCB11|transcript|NM_003742.2|protein_coding|4/28|c.108T>C|p.Asp36Asp|234/4775|108/3966|36/1321||;p3_1000G_AA=a|||;p3_1000G_AC=316;p3_1000G_AF=0.063099;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=18565;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169870855;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=14,3704;ESP6500_AA_GTC=0,14,1845;ESP6500_CDS_SIZES=NM_003742.2:3966;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=244;ESP6500_EA_AC=6,8184;ESP6500_EA_GTC=0,6,4089;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003742.2:coding-synonymous;ESP6500_GL=ABCB11;ESP6500_GRCh38_POSITION=2:169014345;ESP6500_GTC=0,20,5934;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003742.2:c.108T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003742.2:p.(D36);ESP6500_MAF=0.0733,0.3765,0.168;ESP6500_TAC=20,11888;CLINVAR_AF_ESP=0.0017;CLINVAR_AF_EXAC=0.03037;CLINVAR_AF_TGP=0.0631;CLINVAR_ALLELEID=250371;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239338;CLINVAR_CLNDN=not_specified|Familial_Intrahepatic_Cholestasis;CLINVAR_CLNHGVS=NC_000002.12:g.169014345A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:81696;CLINVAR_GENEINFO=ABCB11:8647;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3815675	GT:AD:DP:GQ:PL	0/1:27,16:43:99:438,0,660
chr2	169067093	rs16856428	G	A	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.024;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.674;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16856428;dbSNPBuildID=123;ANN=A|5_prime_UTR_variant|MODIFIER|DHRS9|DHRS9|transcript|NM_001289763.1|protein_coding|1/5|c.-54G>A|||||54|,A|5_prime_UTR_variant|MODIFIER|DHRS9|DHRS9|transcript|NM_199204.1|protein_coding|1/6|c.-499G>A|||||14489|;p3_1000G_AA=G|||;p3_1000G_AC=163;p3_1000G_AF=0.0325479;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=23222;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169923603;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,14:28:99:398,0,378
chr2	169095723	rs1059261	T	C	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.11;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=1.91;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1059261;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|DHRS9|DHRS9|transcript|NM_001289763.1|protein_coding|5/5|c.1096T>C|p.Leu366Leu|1208/1652|1096/1140|366/379||,C|synonymous_variant|LOW|DHRS9|DHRS9|transcript|NM_199204.1|protein_coding|6/6|c.916T>C|p.Leu306Leu|1473/1917|916/960|306/319||,C|synonymous_variant|LOW|DHRS9|DHRS9|transcript|NM_001142270.1|protein_coding|6/6|c.916T>C|p.Leu306Leu|1298/1742|916/960|306/319||,C|synonymous_variant|LOW|DHRS9|DHRS9|transcript|NM_001142271.1|protein_coding|5/5|c.916T>C|p.Leu306Leu|1021/1465|916/960|306/319||;p3_1000G_AA=T|||;p3_1000G_AC=1376;p3_1000G_AF=0.27476;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=20683;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169952233;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1618,2788;ESP6500_AA_AGE=501.5+/-365.0;ESP6500_AA_GTC=296,1026,881;ESP6500_CDS_SIZES=NM_199204.1:960,NM_005771.4:960,NM_001142271.1:960,NM_001142270.1:960;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=80;ESP6500_EA_AC=1728,6872;ESP6500_EA_AGE=315.3+/-312.2;ESP6500_EA_GTC=178,1372,2750;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199204.1:coding-synonymous,NM_005771.4:coding-synonymous,NM_001142271.1:coding-synonymous,NM_001142270.1:coding-synonymous;ESP6500_GL=DHRS9;ESP6500_GRCh38_POSITION=2:169095723;ESP6500_GTC=474,2398,3631;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_199204.1:c.916T>C,NM_005771.4:c.916T>C,NM_001142271.1:c.916T>C,NM_001142270.1:c.916T>C;ESP6500_HGVS_PROTEIN_VAR=NM_199204.1:p.(L306),NM_005771.4:p.(L306),NM_001142271.1:p.(L306),NM_001142270.1:p.(L306);ESP6500_MAF=20.093,36.7227,25.7266;ESP6500_TAC=3346,9660	GT:AD:DP:GQ:PL	0/1:12,5:17:99:162,0,341
chr2	169140541	rs990626;129502	G	A	719.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.79;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs990626;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|72/79|c.13113C>T|p.Ile4371Ile|13326/15735|13113/13968|4371/4655||;p3_1000G_AA=G|||;p3_1000G_AC=2802;p3_1000G_AF=0.559505;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=17938;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.7266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=169997051;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1418,2988;ESP6500_AA_AGE=462.4+/-353.2;ESP6500_AA_GTC=230,958,1015;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-1.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=51;ESP6500_EA_AC=6403,2197;ESP6500_EA_AGE=710.6+/-405.8;ESP6500_EA_GTC=2388,1627,285;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169140541;ESP6500_GTC=2618,2585,1300;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.13113C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(I4371);ESP6500_MAF=25.5465,32.1834,39.8662;ESP6500_TAC=7821,5185;CLINVAR_ALLELEID=134948;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169140541G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26496;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=990626	GT:AD:DP:GQ:PL	1/1:0,25:25:75:748,75,0
chr2	169146922	rs4667591;129501	T	G	3669.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.06;SOR=1.241;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667591;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|LRP2|LRP2|transcript|NM_004525.2|protein_coding|69/79|c.12628A>C|p.Ile4210Leu|12841/15735|12628/13968|4210/4655||;p3_1000G_AA=T|||;p3_1000G_AC=2784;p3_1000G_AF=0.555911;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=16659;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.7932;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170003432;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1067,3339;ESP6500_AA_AGE=385.6+/-325.8;ESP6500_AA_GTC=141,785,1277;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=67;ESP6500_EA_AC=6795,1805;ESP6500_EA_AGE=728.8+/-406.7;ESP6500_EA_GTC=2685,1425,190;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004525.2:missense;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169146922;ESP6500_GS=5;ESP6500_GTC=2826,2210,1467;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.12628A>C;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(I4210L);ESP6500_MAF=20.9884,24.217,39.551;ESP6500_PH=probably-damaging:0.995;ESP6500_TAC=7862,5144;CLINVAR_ALLELEID=134947;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169146922T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26507|UniProtKB_(protein):P98164#VAR_005424;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4667591	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3698,333,0
chr2	169154475	rs2075252;129500	T	C	2343.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2075252;dbSNPBuildID=96;ANN=C|missense_variant|MODERATE|LRP2|LRP2|transcript|NM_004525.2|protein_coding|66/79|c.12280A>G|p.Lys4094Glu|12493/15735|12280/13968|4094/4655||;p3_1000G_AA=C|||;p3_1000G_AC=3896;p3_1000G_AF=0.777955;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.7867;p3_1000G_AN=5008;p3_1000G_DP=19745;p3_1000G_EAS_AF=0.5208;p3_1000G_EUR_AF=0.7624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170010985;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3900,506;ESP6500_AA_AGE=233.6+/-246.7;ESP6500_AA_GTC=1728,444,31;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=5.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=94;ESP6500_EA_AC=6522,2078;ESP6500_EA_AGE=360.1+/-331.8;ESP6500_EA_GTC=2479,1564,257;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004525.2:missense;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169154475;ESP6500_GS=56;ESP6500_GTC=4207,2008,288;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.12280A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(K4094E);ESP6500_MAF=24.1628,11.4843,19.8678;ESP6500_PH=benign:0.0;ESP6500_TAC=10422,2584;CLINVAR_ALLELEID=134946;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169154475T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26510|UniProtKB_(protein):P98164#VAR_005423;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2075252	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2372,219,0
chr2	169168573	rs2229268;129493	A	G	1028.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.39;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229268;dbSNPBuildID=102;ANN=G|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|61/79|c.11601T>C|p.Cys3867Cys|11814/15735|11601/13968|3867/4655||;p3_1000G_AA=A|||;p3_1000G_AC=955;p3_1000G_AF=0.190695;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=20767;p3_1000G_EAS_AF=0.3571;p3_1000G_EUR_AF=0.2296;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170025083;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=181,4225;ESP6500_AA_AGE=116.3+/-154.2;ESP6500_AA_GTC=4,173,2026;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=137;ESP6500_EA_AC=1793,6807;ESP6500_EA_AGE=323.3+/-315.9;ESP6500_EA_GTC=186,1421,2693;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169168573;ESP6500_GTC=190,1594,4719;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.11601T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(C3867);ESP6500_MAF=20.8488,4.108,15.1776;ESP6500_TAC=1974,11032;CLINVAR_AF_ESP=0.1518;CLINVAR_AF_EXAC=0.20262;CLINVAR_AF_TGP=0.1907;CLINVAR_ALLELEID=134939;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169168573A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26527;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229268	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1057,105,0
chr2	169173290	rs17848190	T	C	923.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17848190;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|56/78|c.11015-66A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1068;p3_1000G_AF=0.213259;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=21491;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.2097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170029800;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:952,78,0
chr2	169182061	rs17848180	C	T	531.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.23;SOR=5.549;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17848180;dbSNPBuildID=123;ANN=T|sequence_feature|LOW|LRP2|LRP2|repeat:LDL-receptor_class_B_32|NM_004525.2|protein_coding|51/78|c.9998+106G>A||||||,T|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|51/78|c.9998+106G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=905;p3_1000G_AF=0.180711;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=19973;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.1342;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170038571;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:560,45,0
chr2	169207273	rs13417389	T	C	789.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13417389;dbSNPBuildID=121;ANN=C|sequence_feature|LOW|LRP2|LRP2|repeat:LDL-receptor_class_B_21|NM_004525.2|protein_coding|38/78|c.6470-23A>G||||||,C|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|38/78|c.6470-23A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1396;p3_1000G_AF=0.278754;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=20301;p3_1000G_EAS_AF=0.3671;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170063783;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1387,3015;ESP6500_AA_GTC=220,947,1034;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=22;ESP6500_EA_AC=1685,6911;ESP6500_EA_GTC=170,1345,2783;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:intron;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169207273;ESP6500_GTC=390,2292,3817;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.6470-23A>G;ESP6500_MAF=19.6021,31.5084,23.6344;ESP6500_TAC=3072,9926	GT:AD:DP:GQ:PL	1/1:0,24:24:72:818,72,0
chr2	169220655	rs3815572	C	T	363.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.07;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3815572;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|33/78|c.5539-92G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2006;p3_1000G_AF=0.400559;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=21545;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.3807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170077165;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:392,33,0
chr2	169225503	rs2075246	A	G	100.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2075246;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|32/78|c.5395-50T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2862;p3_1000G_AF=0.571486;p3_1000G_AFR_AF=0.77;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=18326;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.4354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170082013;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3156,1250;ESP6500_AA_AGE=426.4+/-341.1;ESP6500_AA_GTC=1145,866,192;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=52;ESP6500_EA_AC=3606,4994;ESP6500_EA_AGE=624.2+/-397.6;ESP6500_EA_GTC=751,2104,1445;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:intron;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169225503;ESP6500_GTC=1896,2970,1637;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.5395-50T>C;ESP6500_MAF=41.9302,28.3704,48.0086;ESP6500_TAC=6762,6244	GT:AD:DP:GQ:PL	1/1:0,3:3:9:128,9,0
chr2	169231967	rs2302693	T	C	1474.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2302693;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|LRP2|LRP2|domain:EGF-like_7|NM_004525.2|protein_coding|30/78|c.5099-125A>G||||||,C|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|30/78|c.5099-125A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3193;p3_1000G_AF=0.63758;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=20251;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170088477;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1503,132,0
chr2	169231996	rs2302692	T	C	1003.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2302692;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|LRP2|LRP2|domain:EGF-like_7|NM_004525.2|protein_coding|30/78|c.5099-154A>G||||||,C|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|30/78|c.5099-154A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2128;p3_1000G_AF=0.42492;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=19383;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.3479;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170088506;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1032,101,0
chr2	169233314	rs2239596	T	C	312.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2239596;dbSNPBuildID=98;ANN=C|sequence_feature|LOW|LRP2|LRP2|domain:EGF-like_7|NM_004525.2|protein_coding|30/78|c.5098+97A>G||||||,C|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|30/78|c.5098+97A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2318;p3_1000G_AF=0.462859;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=22405;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170089824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:341,30,0
chr2	169233341	rs2239595	G	A	400.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.83;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2239595;dbSNPBuildID=98;ANN=A|sequence_feature|LOW|LRP2|LRP2|domain:EGF-like_7|NM_004525.2|protein_coding|30/78|c.5098+70C>T||||||,A|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|30/78|c.5098+70C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1011;p3_1000G_AF=0.201877;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=22512;p3_1000G_EAS_AF=0.369;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170089851;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:429,39,0
chr2	169235885	rs2229267;129526	A	G	2104.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.64;SOR=1.276;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229267;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|29/79|c.4875T>C|p.Cys1625Cys|5088/15735|4875/13968|1625/4655||;p3_1000G_AA=A|||;p3_1000G_AC=2310;p3_1000G_AF=0.461262;p3_1000G_AFR_AF=0.7088;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=18625;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170092395;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2843,1563;ESP6500_AA_AGE=668.4+/-402.0;ESP6500_AA_GTC=933,977,293;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=126;ESP6500_EA_AC=2073,6527;ESP6500_EA_AGE=359.4+/-331.5;ESP6500_EA_GTC=261,1551,2488;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169235885;ESP6500_GTC=1194,2528,2781;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.4875T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(C1625);ESP6500_MAF=24.1047,35.4744,37.7979;ESP6500_TAC=4916,8090;CLINVAR_AF_ESP=0.3780;CLINVAR_AF_EXAC=0.33374;CLINVAR_AF_TGP=0.4613;CLINVAR_ALLELEID=134972;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169235885A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26540;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229267	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2133,212,0
chr2	169239508	rs830973;259418	G	A	1021.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs830973;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|26/78|c.4294+19C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2224;p3_1000G_AF=0.444089;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=18150;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170096018;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5951;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1821,2585;ESP6500_AA_AGE=531.4+/-373.2;ESP6500_AA_GTC=376,1069,758;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=81;ESP6500_EA_AC=2623,5977;ESP6500_EA_AGE=424.1+/-354.6;ESP6500_EA_GTC=395,1833,2072;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:intron;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169239508;ESP6500_GTC=771,2902,2830;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.4294+19C>T;ESP6500_MAF=30.5,41.33,34.1688;ESP6500_TAC=4444,8562;CLINVAR_AF_ESP=0.3417;CLINVAR_AF_EXAC=0.39328;CLINVAR_AF_TGP=0.4441;CLINVAR_ALLELEID=250376;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169239508G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=830973	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1050,99,0
chr2	169242936	rs831041;259416	T	G	1771.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=0.831;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs831041;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|24/78|c.3667+20A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3098;p3_1000G_AF=0.61861;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=17663;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.4632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170099446;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3047,1359;ESP6500_AA_AGE=452.4+/-350.0;ESP6500_AA_GTC=1064,919,220;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=141;ESP6500_EA_AC=3919,4681;ESP6500_EA_AGE=605.1+/-394.9;ESP6500_EA_GTC=888,2143,1269;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:intron;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169242936;ESP6500_GTC=1952,3062,1489;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.3667+20A>C;ESP6500_MAF=45.5698,30.8443,46.4401;ESP6500_TAC=6966,6040;CLINVAR_ALLELEID=250378;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169242936T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=831041	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1800,180,0
chr2	169242963	rs831042;129519	T	C	2027.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=0.787;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs831042;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|24/79|c.3660A>G|p.Ala1220Ala|3873/15735|3660/13968|1220/4655||;p3_1000G_AA=C|||;p3_1000G_AC=2914;p3_1000G_AF=0.581869;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=18176;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.4612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170099473;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2681,1725;ESP6500_AA_AGE=518.1+/-369.6;ESP6500_AA_GTC=832,1017,354;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=159;ESP6500_EA_AC=3864,4736;ESP6500_EA_AGE=608.9+/-395.5;ESP6500_EA_GTC=862,2140,1298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169242963;ESP6500_GTC=1694,3157,1652;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.3660A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(A1220);ESP6500_MAF=44.9302,39.1512,49.6771;ESP6500_TAC=6545,6461;CLINVAR_ALLELEID=134965;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169242963T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26545;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=831042	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2056,195,0
chr2	169243385	rs2075255;259414	A	C	2212.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.95;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2075255;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|23/78|c.3550+18T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=106;p3_1000G_AF=0.0211661;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=20355;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170099895;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3203,1203;ESP6500_AA_AGE=397.9+/-330.6;ESP6500_AA_GTC=1189,825,189;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=143;ESP6500_EA_AC=3983,4617;ESP6500_EA_AGE=584.2+/-391.7;ESP6500_EA_GTC=945,2093,1262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:intron;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169243385;ESP6500_GTC=2134,2918,1451;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.3550+18T>G;ESP6500_MAF=46.314,27.3037,44.7486;ESP6500_TAC=7186,5820;CLINVAR_AF_TGP=0.0212;CLINVAR_ALLELEID=250380;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169243385A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2075255	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,48:48:99:1|1:169243385_A_C:2241,151,0
chr2	169243389	rs2075254;259413	G	A	2281.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.1;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2075254;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|23/78|c.3550+14C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3098;p3_1000G_AF=0.61861;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=19449;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.4632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170099899;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3041,1365;ESP6500_AA_AGE=445.9+/-347.8;ESP6500_AA_GTC=1063,915,225;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=162;ESP6500_EA_AC=3913,4687;ESP6500_EA_AGE=601.1+/-394.3;ESP6500_EA_GTC=889,2135,1276;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:intron;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169243389;ESP6500_GTC=1952,3050,1501;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.3550+14C>T;ESP6500_MAF=45.5,30.9805,46.5324;ESP6500_TAC=6954,6052;CLINVAR_ALLELEID=250381;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169243389G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26556;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2075254	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,52:52:99:1|1:169243385_A_C:2310,157,0
chr2	169246826	rs831043;129516	T	C	2319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=0.774;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs831043;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|21/79|c.3069A>G|p.Thr1023Thr|3282/15735|3069/13968|1023/4655||;p3_1000G_AA=C|||;p3_1000G_AC=3098;p3_1000G_AF=0.61861;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=17744;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.4622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170103336;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3047,1359;ESP6500_AA_AGE=452.6+/-350.1;ESP6500_AA_GTC=1064,919,220;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=135;ESP6500_EA_AC=3921,4679;ESP6500_EA_AGE=604.9+/-394.9;ESP6500_EA_GTC=890,2141,1269;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169246826;ESP6500_GTC=1954,3060,1489;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.3069A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(T1023);ESP6500_MAF=45.593,30.8443,46.4247;ESP6500_TAC=6968,6038;CLINVAR_ALLELEID=134962;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169246826T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26566;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=831043	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2348,225,0
chr2	169246841	rs2075249;129515	G	T	2420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2075249;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|21/79|c.3054C>A|p.Thr1018Thr|3267/15735|3054/13968|1018/4655||;p3_1000G_AA=G|||;p3_1000G_AC=2286;p3_1000G_AF=0.45647;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=17421;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.4632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170103351;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1288,3118;ESP6500_AA_AGE=436.6+/-344.7;ESP6500_AA_GTC=185,918,1100;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=124;ESP6500_EA_AC=3946,4654;ESP6500_EA_AGE=550.0+/-385.7;ESP6500_EA_GTC=910,2126,1264;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169246841;ESP6500_GTC=1095,3044,2364;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.3054C>A;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(T1018);ESP6500_MAF=45.8837,29.2329,40.243;ESP6500_TAC=5234,7772;CLINVAR_AF_ESP=0.4024;CLINVAR_AF_EXAC=0.49208;CLINVAR_AF_TGP=0.4565;CLINVAR_ALLELEID=134961;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169246841G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26584;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2075249	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2449,237,0
chr2	169259078	rs2241190;129510	T	C	5700.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=188;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=0.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2241190;dbSNPBuildID=98;ANN=C|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|17/79|c.2460A>G|p.Thr820Thr|2673/15735|2460/13968|820/4655||;p3_1000G_AA=T|||;p3_1000G_AC=3117;p3_1000G_AF=0.622404;p3_1000G_AFR_AF=0.7141;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=16091;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.4791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170115588;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3037,1369;ESP6500_AA_AGE=690.0+/-405.2;ESP6500_AA_GTC=1052,933,218;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=150;ESP6500_EA_AC=4022,4578;ESP6500_EA_AGE=555.8+/-386.7;ESP6500_EA_GTC=941,2140,1219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169259078;ESP6500_GTC=1993,3073,1437;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.2460A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(T820);ESP6500_MAF=46.7674,31.0713,45.725;ESP6500_TAC=7059,5947;CLINVAR_ALLELEID=134956;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169259078T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26579;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2241190	GT:AD:DP:GQ:PL	1/1:0,188:188:99:5729,564,0
chr2	169273018	rs830994;129507	G	A	2755.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs830994;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|15/79|c.2025C>T|p.Val675Val|2238/15735|2025/13968|675/4655||;p3_1000G_AA=G|||;p3_1000G_AC=3053;p3_1000G_AF=0.609625;p3_1000G_AFR_AF=0.5045;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=21510;p3_1000G_EAS_AF=0.8859;p3_1000G_EUR_AF=0.661;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170129528;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2276,2130;ESP6500_AA_AGE=598.6+/-389.1;ESP6500_AA_GTC=589,1098,516;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=157;ESP6500_EA_AC=5723,2877;ESP6500_EA_AGE=672.7+/-403.0;ESP6500_EA_GTC=1898,1927,475;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169273018;ESP6500_GTC=2487,3025,991;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.2025C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(V675);ESP6500_MAF=33.4535,48.3432,38.4976;ESP6500_TAC=7999,5007;CLINVAR_ALLELEID=134953;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169273018G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26537;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=830994	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2784,267,0
chr2	169273126	rs830995	A	G	1354.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.85;SOR=3.086;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs830995;dbSNPBuildID=86;ANN=G|sequence_feature|LOW|LRP2|LRP2|domain:EGF-like_3|NM_004525.2|protein_coding|14/78|c.1976-59T>C||||||,G|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|14/78|c.1976-59T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3377;p3_1000G_AF=0.674321;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=21886;p3_1000G_EAS_AF=0.8919;p3_1000G_EUR_AF=0.7237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170129636;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1383,111,0
chr2	169277681	rs831003	G	C	571.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=4.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs831003;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|13/78|c.1772+64C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3828;p3_1000G_AF=0.764377;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=18745;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.7913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170134191;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:600,45,0
chr2	169282836	rs831010	C	T	984.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.14;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs831010;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|10/78|c.1171+37G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4168;p3_1000G_AF=0.832268;p3_1000G_AFR_AF=0.8298;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=19649;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.8459;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170139346;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3546,860;ESP6500_AA_AGE=336.5+/-304.4;ESP6500_AA_GTC=1427,692,84;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=82;ESP6500_EA_AC=7214,1386;ESP6500_EA_AGE=268.6+/-287.9;ESP6500_EA_GTC=3025,1164,111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:intron;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169282836;ESP6500_GTC=4452,1856,195;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.1171+37G>A;ESP6500_MAF=16.1163,19.5188,17.269;ESP6500_TAC=10760,2246	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1013,105,0
chr2	169294161	rs2229266;129533	G	A	3275.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=0.841;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229266;dbSNPBuildID=102;ANN=A|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|6/79|c.639C>T|p.Asp213Asp|852/15735|639/13968|213/4655||;p3_1000G_AA=A|||;p3_1000G_AC=1854;p3_1000G_AF=0.370208;p3_1000G_AFR_AF=0.3616;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=21773;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170150671;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1436,2970;ESP6500_AA_AGE=682.7+/-404.2;ESP6500_AA_GTC=260,916,1027;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=137;ESP6500_EA_AC=2251,6349;ESP6500_EA_AGE=708.8+/-405.7;ESP6500_EA_GTC=310,1631,2359;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169294161;ESP6500_GTC=570,2547,3386;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.639C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(D213);ESP6500_MAF=26.1744,32.5919,28.3485;ESP6500_TAC=3687,9319;CLINVAR_AF_ESP=0.2835;CLINVAR_AF_EXAC=0.32044;CLINVAR_AF_TGP=0.3702;CLINVAR_ALLELEID=134979;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169294161G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26553;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229266	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3304,342,0
chr2	169294717	rs759076090;332204	TAAA	T	176.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27;SOR=0.941;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=136;ANN=T|splice_region_variant&intron_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|4/78|c.428-10_428-8delTTT||||||;CLINVAR_ALLELEID=283582;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143;CLINVAR_CLNDN=Donnai_Barrow_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.169294718_169294720delAAA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:837101;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=759076090	GT:AD:DP:GQ:PL	1/1:0,4:4:21:174,21,0
chr2	169318824	rs2229263;129511	T	C	1264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.61;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=3.572;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.629;SOR=1.081;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229263;dbSNPBuildID=102;ANN=C|missense_variant|MODERATE|LRP2|LRP2|transcript|NM_004525.2|protein_coding|3/79|c.248A>G|p.Asn83Ser|461/15735|248/13968|83/4655||;p3_1000G_AA=T|||;p3_1000G_AC=1534;p3_1000G_AF=0.30631;p3_1000G_AFR_AF=0.4818;p3_1000G_AMR_AF=0.2118;p3_1000G_AN=5008;p3_1000G_DP=21257;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.2783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170175334;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1915,2491;ESP6500_AA_AGE=547.0+/-377.2;ESP6500_AA_GTC=431,1053,719;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=129;ESP6500_EA_AC=2524,6076;ESP6500_EA_AGE=414.1+/-351.3;ESP6500_EA_GTC=363,1798,2139;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004525.2:missense;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169318824;ESP6500_GS=46;ESP6500_GTC=794,2851,2858;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.248A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(N83S);ESP6500_MAF=29.3488,43.4635,34.1304;ESP6500_PH=benign:0.003;ESP6500_TAC=4439,8567;CLINVAR_AF_ESP=0.3413;CLINVAR_AF_EXAC=0.27826;CLINVAR_AF_TGP=0.3063;CLINVAR_ALLELEID=134957;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169318824T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26594|UniProtKB_(protein):P98164#VAR_037009;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229263	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1293,0,1560
chr2	169362306	rs1559013;259422	T	C	274.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.48;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1559013;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|LRP2|LRP2|transcript|NM_004525.2|protein_coding|1/78|c.79+15A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4931;p3_1000G_AF=0.984625;p3_1000G_AFR_AF=0.9463;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=11421;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170218816;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3871,133;ESP6500_AA_GTC=1870,131,1;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=5;ESP6500_EA_AC=8023,5;ESP6500_EA_GTC=4009,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:intron;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169362306;ESP6500_GTC=5879,136,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.79+15A>G;ESP6500_MAF=0.0623,3.3217,1.1469;ESP6500_TAC=11894,138;CLINVAR_ALLELEID=250383;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169362306T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26563;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1559013	GT:AD:DP:GQ:PL	1/1:0,10:10:30:303,30,0
chr2	169362337	rs1559014;129534	C	G	327.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1559014;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|LRP2|LRP2|transcript|NM_004525.2|protein_coding|1/79|c.63G>C|p.Ala21Ala|276/15735|63/13968|21/4655||;p3_1000G_AA=C|||;p3_1000G_AC=4931;p3_1000G_AF=0.984625;p3_1000G_AFR_AF=0.9463;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=11347;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170218847;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4014,132;ESP6500_AA_GTC=1943,128,2;ESP6500_CDS_SIZES=NM_004525.2:13968;ESP6500_CG=-1.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=6;ESP6500_EA_AC=8217,1;ESP6500_EA_GTC=4108,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004525.2:coding-synonymous;ESP6500_GL=LRP2;ESP6500_GRCh38_POSITION=2:169362337;ESP6500_GTC=6051,129,2;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004525.2:c.63G>C;ESP6500_HGVS_PROTEIN_VAR=NM_004525.2:p.(A21);ESP6500_MAF=0.0122,3.1838,1.0757;ESP6500_TAC=12231,133;CLINVAR_ALLELEID=134980;CLINVAR_CLNDISDB=MedGen:C1857277,OMIM:222448,Orphanet:ORPHA2143|MedGen:CN169374;CLINVAR_CLNDN=Donnai_Barrow_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169362337C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26569;CLINVAR_GENEINFO=LRP2:4036;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1559014	GT:AD:DP:GQ:PL	1/1:0,11:11:33:356,33,0
chr2	169479514	rs1879466;262633	G	C	560.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.55;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-1.823;SOR=0.889;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1879466;dbSNPBuildID=92;ANN=C|5_prime_UTR_variant|MODIFIER|BBS5|BBS5|transcript|NM_152384.2|protein_coding|1/12|c.-40G>C|||||40|;p3_1000G_AA=C|||;p3_1000G_AC=4595;p3_1000G_AF=0.917532;p3_1000G_AFR_AF=0.8835;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=15292;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170336024;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8804;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3899,507;ESP6500_AA_AGE=232.0+/-245.7;ESP6500_AA_GTC=1722,455,26;ESP6500_CDS_SIZES=NM_152384.2:1026;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=76;ESP6500_EA_AC=7785,815;ESP6500_EA_AGE=189.4+/-236.2;ESP6500_EA_GTC=3523,739,38;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152384.2:utr-5;ESP6500_GL=BBS5;ESP6500_GRCh38_POSITION=2:169479514;ESP6500_GTC=5245,1194,64;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_152384.2:c.-40G>C;ESP6500_MAF=9.4767,11.507,10.1645;ESP6500_TAC=11684,1322;CLINVAR_ALLELEID=250384;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.169479514G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=BBS5:129880;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1879466	GT:AD:DP:GQ:PL	0/1:21,21:42:99:589,0,563
chr2	169504905	rs12692910	A	G	471.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.472;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=57.08;MQRankSum=-2.892;QD=10.97;ReadPosRankSum=0.321;SOR=0.645;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12692910;dbSNPBuildID=121;ANN=G|3_prime_UTR_variant|MODIFIER|BBS5|BBS5|transcript|NM_152384.2|protein_coding|12/12|c.*323A>G|||||323|,G|upstream_gene_variant|MODIFIER|KLHL41|KLHL41|transcript|NM_006063.2|protein_coding||c.-4874A>G|||||4797|;p3_1000G_AA=-|||;p3_1000G_AC=4457;p3_1000G_AF=0.889976;p3_1000G_AFR_AF=0.7859;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=14432;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.9145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170361415;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8783;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,21:43:99:500,0,508
chr2	169504916	rs12692911	T	C	1292.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.42;QD=29.38;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12692911;dbSNPBuildID=121;ANN=C|3_prime_UTR_variant|MODIFIER|BBS5|BBS5|transcript|NM_152384.2|protein_coding|12/12|c.*334T>C|||||334|,C|upstream_gene_variant|MODIFIER|KLHL41|KLHL41|transcript|NM_006063.2|protein_coding||c.-4863T>C|||||4786|;p3_1000G_AA=-|||;p3_1000G_AC=4712;p3_1000G_AF=0.940895;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=14143;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170361426;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1321,132,0
chr2	169514466	rs2293058	T	C	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293058;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KLHL41|KLHL41|transcript|NM_006063.2|protein_coding|1/5|c.1111-108T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=591;p3_1000G_AF=0.118011;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=19305;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.0636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170370976;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:63:72,0,63
chr2	169529784	rs7349274	G	A	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=3.002;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=-0.633;SOR=1.434;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7349274;dbSNPBuildID=116;ANN=A|3_prime_UTR_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_001322046.1|protein_coding|15/15|c.*41C>T|||||41|,A|3_prime_UTR_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_001281476.2|protein_coding|14/14|c.*41C>T|||||41|,A|3_prime_UTR_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_001322048.1|protein_coding|14/14|c.*41C>T|||||41|,A|3_prime_UTR_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_001322049.1|protein_coding|13/13|c.*41C>T|||||41|,A|3_prime_UTR_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_024622.5|protein_coding|15/15|c.*41C>T|||||41|,A|downstream_gene_variant|MODIFIER|KLHL41|KLHL41|transcript|NM_006063.2|protein_coding||c.*4088G>A|||||3522|,A|non_coding_transcript_exon_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NR_104020.2|pseudogene|14/14|n.2847C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=591;p3_1000G_AF=0.118011;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=19845;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0.0676;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170386294;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=135,4271;ESP6500_AA_AGE=90.6+/-129.3;ESP6500_AA_GTC=3,129,2071;ESP6500_CDS_SIZES=NM_024622.3:2544;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=701,7897;ESP6500_EA_AGE=162.5+/-215.2;ESP6500_EA_GTC=29,643,3627;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024622.3:utr-3;ESP6500_GL=FASTKD1;ESP6500_GRCh38_POSITION=2:169529784;ESP6500_GTC=32,772,5698;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024622.3:c.*41C>T;ESP6500_MAF=8.1531,3.064,6.4288;ESP6500_TAC=836,12168	GT:AD:DP:GQ:PL	0/1:27,14:41:99:331,0,667
chr2	169546242	rs2290010	T	C	603.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.06;SOR=0.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290010;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|FASTKD1|FASTKD1|transcript|NM_001322046.1|protein_coding|8/15|c.1677A>G|p.Ser559Ser|2745/4929|1677/2544|559/847||,C|synonymous_variant|LOW|FASTKD1|FASTKD1|transcript|NM_001281476.2|protein_coding|8/14|c.1677A>G|p.Ser559Ser|2072/4127|1677/2415|559/804||,C|synonymous_variant|LOW|FASTKD1|FASTKD1|transcript|NM_001322048.1|protein_coding|7/14|c.1608A>G|p.Ser536Ser|2000/4184|1608/2475|536/824||,C|synonymous_variant|LOW|FASTKD1|FASTKD1|transcript|NM_001322049.1|protein_coding|7/13|c.1608A>G|p.Ser536Ser|2003/4058|1608/2346|536/781||,C|synonymous_variant|LOW|FASTKD1|FASTKD1|transcript|NM_024622.5|protein_coding|8/15|c.1677A>G|p.Ser559Ser|2072/4256|1677/2544|559/847||,C|non_coding_transcript_exon_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NR_104020.2|pseudogene|8/14|n.2072A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=595;p3_1000G_AF=0.11881;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=20752;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.0676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170402752;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=135,4267;ESP6500_AA_AGE=89.7+/-128.4;ESP6500_AA_GTC=3,129,2069;ESP6500_CDS_SIZES=NM_024622.3:2544;ESP6500_CG=-4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=705,7893;ESP6500_EA_AGE=164.9+/-217.2;ESP6500_EA_GTC=30,645,3624;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024622.3:coding-synonymous;ESP6500_GL=FASTKD1;ESP6500_GRCh38_POSITION=2:169546242;ESP6500_GTC=33,774,5693;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024622.3:c.1677A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024622.3:p.(S559);ESP6500_MAF=8.1996,3.0668,6.4615;ESP6500_TAC=840,12160	GT:AD:DP:GQ:PL	0/1:22,23:45:99:632,0,599
chr2	169560839	rs1204635514	CT	C	32.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=8;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_001322046.1|protein_coding|4/14|c.573-55delA||||||,C|intron_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_001281476.2|protein_coding|4/13|c.573-55delA||||||,C|intron_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_001322048.1|protein_coding|3/13|c.504-55delA||||||,C|intron_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_001322049.1|protein_coding|3/12|c.504-55delA||||||,C|intron_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NM_024622.5|protein_coding|4/14|c.573-55delA||||||,C|intron_variant|MODIFIER|FASTKD1|FASTKD1|transcript|NR_104020.2|pseudogene|4/13|n.968-55delA||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:69,12,0
chr2	169584491	rs2276611	G	A	567.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.372;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.66;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=2.5;SOR=0.34;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276611;dbSNPBuildID=100;ANN=A|splice_donor_variant&intron_variant|HIGH|PPIG|PPIG|transcript|NM_004792.2|protein_coding|1/13|c.-70+1G>A||||||;LOF=(PPIG|PPIG|1|1.00);p3_1000G_AA=G|||;p3_1000G_AC=970;p3_1000G_AF=0.19369;p3_1000G_AFR_AF=0.1762;p3_1000G_AMR_AF=0.1686;p3_1000G_AN=5008;p3_1000G_DP=17429;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.1193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170441001;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,23:45:99:596,0,682
chr2	169607037	rs72623200	T	C	90.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.022;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.24;SOR=0.799;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72623200;dbSNPBuildID=130;ANN=C|sequence_feature|LOW|PPIG|PPIG|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_004792.2|protein_coding|5/13|c.245-67T>C||||||,C|intron_variant|MODIFIER|PPIG|PPIG|transcript|NM_004792.2|protein_coding|5/13|c.245-67T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=967;p3_1000G_AF=0.193091;p3_1000G_AFR_AF=0.1778;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=13943;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.1203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170463547;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=252,1132;ESP6500_AA_GTC=16,220,456;ESP6500_CDS_SIZES=NM_004792.2:2265;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=83;ESP6500_EA_AC=409,2763;ESP6500_EA_GTC=24,361,1201;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004792.2:intron;ESP6500_GL=PPIG;ESP6500_GRCh38_POSITION=2:169607037;ESP6500_GTC=40,581,1657;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004792.2:c.245-67T>C;ESP6500_MAF=12.8941,18.2081,14.5083;ESP6500_TAC=661,3895	GT:AD:DP:GQ:PL	0/1:3,5:8:61:119,0,61
chr2	169631944	rs3754921	A	G	336.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3754921;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PPIG|PPIG|transcript|NM_004792.2|protein_coding|11/13|c.929+11A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2925;p3_1000G_AF=0.584065;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=18480;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170488454;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3189,1215;ESP6500_AA_GTC=1164,861,177;ESP6500_CDS_SIZES=NM_004792.2:2265;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=23;ESP6500_EA_AC=4882,3714;ESP6500_EA_GTC=1369,2144,785;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004792.2:intron;ESP6500_GL=PPIG;ESP6500_GRCh38_POSITION=2:169631944;ESP6500_GTC=2533,3005,962;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004792.2:c.929+11A>G;ESP6500_MAF=43.2061,27.5886,37.9154;ESP6500_TAC=8071,4929	GT:AD:DP:GQ:PL	1/1:0,12:12:36:365,36,0
chr2	169636057	rs2290007	A	G	488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.69;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290007;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PPIG|PPIG|transcript|NM_004792.2|protein_coding|12/13|c.1018-35A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2926;p3_1000G_AF=0.584265;p3_1000G_AFR_AF=0.7595;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=15783;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.5378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170492567;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3180,1212;ESP6500_AA_GTC=1169,842,185;ESP6500_CDS_SIZES=NM_004792.2:2265;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=30;ESP6500_EA_AC=4883,3711;ESP6500_EA_GTC=1369,2145,783;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004792.2:intron;ESP6500_GL=PPIG;ESP6500_GRCh38_POSITION=2:169636057;ESP6500_GTC=2538,2987,968;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004792.2:c.1018-35A>G;ESP6500_MAF=43.1813,27.5956,37.9101;ESP6500_TAC=8063,4923	GT:AD:DP:GQ:PL	1/1:0,13:13:39:517,39,0
chr2	169636074	rs2290008	T	C	595.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290008;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PPIG|PPIG|transcript|NM_004792.2|protein_coding|12/13|c.1018-18T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3275;p3_1000G_AF=0.653954;p3_1000G_AFR_AF=0.8169;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=15379;p3_1000G_EAS_AF=0.6091;p3_1000G_EUR_AF=0.5706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170492584;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6626;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3414,988;ESP6500_AA_GTC=1324,766,111;ESP6500_CDS_SIZES=NM_004792.2:2265;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=5173,3427;ESP6500_EA_GTC=1540,2093,667;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004792.2:intron;ESP6500_GL=PPIG;ESP6500_GRCh38_POSITION=2:169636074;ESP6500_GTC=2864,2859,778;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004792.2:c.1018-18T>C;ESP6500_MAF=39.8488,22.4443,33.9563;ESP6500_TAC=8587,4415	GT:AD:DP:GQ:PL	1/1:0,17:17:51:624,51,0
chr2	169636593	rs1050354	T	A	559.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.99;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1050354;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|PPIG|PPIG|transcript|NM_004792.2|protein_coding|14/14|c.1335T>A|p.Asp445Glu|1555/2706|1335/2265|445/754||;p3_1000G_AA=T|||;p3_1000G_AC=2926;p3_1000G_AF=0.584265;p3_1000G_AFR_AF=0.7595;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=17437;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.5378;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170493103;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3169,1203;ESP6500_AA_GTC=1168,833,185;ESP6500_CDS_SIZES=NM_004792.2:2265;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=47;ESP6500_EA_AC=4842,3698;ESP6500_EA_GTC=1368,2106,796;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004792.2:missense;ESP6500_GL=PPIG;ESP6500_GRCh38_POSITION=2:169636593;ESP6500_GS=45;ESP6500_GTC=2536,2939,981;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004792.2:c.1335T>A;ESP6500_HGVS_PROTEIN_VAR=NM_004792.2:p.(D445E);ESP6500_MAF=43.3021,27.516,37.9569;ESP6500_PH=benign:0.02;ESP6500_TAC=8011,4901	GT:AD:DP:GQ:PL	1/1:0,16:16:48:588,48,0
chr2	169637353	rs8207	A	G	246.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.857;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8207;dbSNPBuildID=52;ANN=G|missense_variant|MODERATE|PPIG|PPIG|transcript|NM_004792.2|protein_coding|14/14|c.2095A>G|p.Asn699Asp|2315/2706|2095/2265|699/754||;p3_1000G_AA=A|||;p3_1000G_AC=997;p3_1000G_AF=0.199081;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=18742;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170493863;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1184,3222;ESP6500_AA_AGE=394.2+/-329.2;ESP6500_AA_GTC=165,854,1184;ESP6500_CDS_SIZES=NM_004792.2:2265;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=41;ESP6500_EA_AC=2331,6265;ESP6500_EA_AGE=378.6+/-339.0;ESP6500_EA_GTC=308,1715,2275;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004792.2:missense;ESP6500_GL=PPIG;ESP6500_GRCh38_POSITION=2:169637353;ESP6500_GS=23;ESP6500_GTC=473,2569,3459;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004792.2:c.2095A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004792.2:p.(N699D);ESP6500_MAF=27.1173,26.8724,27.0343;ESP6500_PH=benign:0.016;ESP6500_TAC=3515,9487	GT:AD:DP:GQ:PL	0/1:9,9:18:99:275,0,232
chr2	169645891	rs17544587	G	A	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.092;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.523;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17544587;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|CCDC173|CCDC173|transcript|NM_001085447.1|protein_coding|9/9|c.1609C>T|p.Pro537Ser|1703/2169|1609/1659|537/552||;p3_1000G_AA=G|||;p3_1000G_AC=417;p3_1000G_AF=0.0832668;p3_1000G_AFR_AF=0.1142;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=16908;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0.0855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170502401;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1247;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=370,3286;ESP6500_AA_GTC=18,334,1476;ESP6500_CDS_SIZES=NM_001085447.1:1659;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=62;ESP6500_EA_AC=796,7374;ESP6500_EA_GTC=32,732,3321;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001085447.1:missense;ESP6500_GL=CCDC173;ESP6500_GRCh38_POSITION=2:169645891;ESP6500_GS=74;ESP6500_GTC=50,1066,4797;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001085447.1:c.1609C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001085447.1:p.(P537S);ESP6500_MAF=9.743,10.1204,9.8596;ESP6500_PH=benign:0.0;ESP6500_TAC=1166,10660	GT:AD:DP:GQ:PL	0/1:14,10:24:99:263,0,350
chr2	169649174	rs3213946	G	A	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.427;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.778;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.76;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213946;dbSNPBuildID=106;ANN=A|splice_region_variant&intron_variant|LOW|CCDC173|CCDC173|transcript|NM_001085447.1|protein_coding|8/8|c.1317+8C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2009;p3_1000G_AF=0.401158;p3_1000G_AFR_AF=0.6165;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=17589;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.4195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170505684;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2060,1546;ESP6500_AA_GTC=593,874,336;ESP6500_CDS_SIZES=NM_001085447.1:1659;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=87;ESP6500_EA_AC=3566,4578;ESP6500_EA_GTC=774,2018,1280;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085447.1:intron;ESP6500_GL=CCDC173;ESP6500_GRCh38_POSITION=2:169649174;ESP6500_GTC=1367,2892,1616;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001085447.1:c.1317+8C>T;ESP6500_MAF=43.7868,42.873,47.8809;ESP6500_TAC=5626,6124	GT:AD:DP:GQ:PL	0/1:8,10:18:99:222,0,178
chr2	169675062	rs11682248	T	C	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.878;SOR=2.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11682248;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CCDC173|CCDC173|transcript|NM_001085447.1|protein_coding|2/8|c.295-22A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1750;p3_1000G_AF=0.349441;p3_1000G_AFR_AF=0.4304;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=14040;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.4195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170531572;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1500,2078;ESP6500_AA_GTC=332,836,621;ESP6500_CDS_SIZES=NM_001085447.1:1659;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=28;ESP6500_EA_AC=3487,4599;ESP6500_EA_GTC=771,1945,1327;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085447.1:intron;ESP6500_GL=CCDC173;ESP6500_GRCh38_POSITION=2:169675062;ESP6500_GTC=1103,2781,1948;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001085447.1:c.295-22A>G;ESP6500_MAF=43.1239,41.9229,42.7555;ESP6500_TAC=4987,6677	GT:AD:DP:GQ:PL	0/1:11,6:17:99:196,0,305
chr2	169675104	rs11688600	A	G	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=0.637;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11688600;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CCDC173|CCDC173|transcript|NM_001085447.1|protein_coding|2/8|c.295-64T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=1750;p3_1000G_AF=0.349441;p3_1000G_AFR_AF=0.4304;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=13610;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.4195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170531614;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:86:86,0,167
chr2	169694329	rs3820952	A	G	870.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=1.23;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820952;dbSNPBuildID=107;ANN=G|5_prime_UTR_variant|MODIFIER|CCDC173|CCDC173|transcript|NM_001085447.1|protein_coding|1/9|c.-2T>C|||||2|,G|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001008489.3|protein_coding||c.-6643A>G|||||125|,G|upstream_gene_variant|MODIFIER|PHOSPHO2-KLHL23|PHOSPHO2-KLHL23|transcript|NM_001199290.1|protein_coding||c.-40686A>G|||||125|,G|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001199285.1|protein_coding||c.-6643A>G|||||125|,G|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001199286.1|protein_coding||c.-6643A>G|||||125|,G|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001199287.1|protein_coding||c.-6643A>G|||||125|,G|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001199288.1|protein_coding||c.-6643A>G|||||125|;p3_1000G_AA=G|||;p3_1000G_AC=1752;p3_1000G_AF=0.34984;p3_1000G_AFR_AF=0.4312;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=16282;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.4195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170550839;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1668,2302;ESP6500_AA_GTC=354,960,671;ESP6500_CDS_SIZES=NM_001085447.1:1659;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=82;ESP6500_EA_AC=3625,4701;ESP6500_EA_GTC=782,2061,1320;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085447.1:utr-5;ESP6500_GL=CCDC173;ESP6500_GRCh38_POSITION=2:169694329;ESP6500_GTC=1136,3021,1991;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001085447.1:c.-2T>C;ESP6500_MAF=43.5383,42.0151,43.0465;ESP6500_TAC=5293,7003	GT:AD:DP:GQ:PL	0/1:30,32:62:99:899,0,850
chr2	169694446	rs1446901	A	C	834.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1446901;dbSNPBuildID=88;ANN=C|upstream_gene_variant|MODIFIER|CCDC173|CCDC173|transcript|NM_001085447.1|protein_coding||c.-119T>G|||||25|,C|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001008489.3|protein_coding||c.-6526A>C|||||8|,C|upstream_gene_variant|MODIFIER|PHOSPHO2-KLHL23|PHOSPHO2-KLHL23|transcript|NM_001199290.1|protein_coding||c.-40569A>C|||||8|,C|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001199285.1|protein_coding||c.-6526A>C|||||8|,C|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001199286.1|protein_coding||c.-6526A>C|||||8|,C|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001199287.1|protein_coding||c.-6526A>C|||||8|,C|upstream_gene_variant|MODIFIER|PHOSPHO2|PHOSPHO2|transcript|NM_001199288.1|protein_coding||c.-6526A>C|||||8|,C|intergenic_region|MODIFIER|CCDC173-PHOSPHO2|CCDC173-PHOSPHO2|intergenic_region|CCDC173-PHOSPHO2|||n.169694446A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2934;p3_1000G_AF=0.585863;p3_1000G_AFR_AF=0.7655;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=16802;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.5368;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170550956;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:863,78,0
chr2	169749471	rs4667607	C	T	1558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667607;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|PHOSPHO2-KLHL23|PHOSPHO2-KLHL23|transcript|NM_001199290.1|protein_coding|6/6|c.1416C>T|p.Gly472Gly|1791/4206|1416/1677|472/558||,T|synonymous_variant|LOW|KLHL23|KLHL23|transcript|NM_144711.5|protein_coding|4/4|c.1416C>T|p.Gly472Gly|1660/4075|1416/1677|472/558||;p3_1000G_AA=T|||;p3_1000G_AC=4970;p3_1000G_AF=0.992412;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20611;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170605981;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4290,116;ESP6500_AA_AGE=87.8+/-126.4;ESP6500_AA_GTC=2090,110,3;ESP6500_CDS_SIZES=NM_144711.5:1677,NM_001199290.1:1677;ESP6500_CG=-5.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=79;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144711.5:coding-synonymous,NM_001199290.1:coding-synonymous;ESP6500_GL=KLHL23,PHOSPHO2-KLHL23;ESP6500_GRCh38_POSITION=2:169749471;ESP6500_GTC=6390,110,3;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144711.5:c.1416C>T,NM_001199290.1:c.1416C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144711.5:p.(G472),NM_001199290.1:p.(G472);ESP6500_MAF=0.0,2.6328,0.8919;ESP6500_TAC=12890,116	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1587,150,0
chr2	169776297	rs10930375	C	T	585.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.768;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.968;SOR=0.719;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10930375;dbSNPBuildID=120;ANN=T|intergenic_region|MODIFIER|PHOSPHO2-KLHL23-SSB|PHOSPHO2-KLHL23-SSB|intergenic_region|PHOSPHO2-KLHL23-SSB|||n.169776297C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1727;p3_1000G_AF=0.344848;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=18889;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.2664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170632807;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,21:34:99:614,0,383
chr2	169776380	rs76164088	A	C	1322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.07;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=1.18;SOR=0.775;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76164088;dbSNPBuildID=131;ANN=C|intergenic_region|MODIFIER|PHOSPHO2-KLHL23-SSB|PHOSPHO2-KLHL23-SSB|intergenic_region|PHOSPHO2-KLHL23-SSB|||n.169776380A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=155;p3_1000G_AF=0.0309505;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=19341;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170632890;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:37,34:71:99:0|1:169776380_A_C:1351,0,1543
chr2	169776386	rs10930376	T	C	1322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.63;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=-0.168;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10930376;dbSNPBuildID=120;ANN=C|intergenic_region|MODIFIER|PHOSPHO2-KLHL23-SSB|PHOSPHO2-KLHL23-SSB|intergenic_region|PHOSPHO2-KLHL23-SSB|||n.169776386T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1725;p3_1000G_AF=0.344449;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.4121;p3_1000G_AN=5008;p3_1000G_DP=19364;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.2654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170632896;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:38,35:73:99:0|1:169776380_A_C:1351,0,1543
chr2	169776593	rs11325477;rs796648401	GA	G	308.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.232;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.212;SOR=1.911;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11325477;dbSNPBuildID=130,146;ANN=G|intergenic_region|MODIFIER|PHOSPHO2-KLHL23-SSB|PHOSPHO2-KLHL23-SSB|intergenic_region|PHOSPHO2-KLHL23-SSB|||n.169776594delA||||||;p3_1000G_AA=A|AA|A|insertion;p3_1000G_AC=4514;p3_1000G_AF=0.901358;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=19956;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170633103;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,11:21:99:346,0,311
chr2	169806124	rs13393212	C	A	588.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13393212;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|SSB|SSB|transcript|NM_001294145.1|protein_coding|4/11|c.345+285C>A||||||,A|intron_variant|MODIFIER|SSB|SSB|transcript|NM_003142.4|protein_coding|4/11|c.345+285C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1295;p3_1000G_AF=0.258586;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=16477;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170662634;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:617,54,0
chr2	169821327	rs59311986	AC	A	454.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.767;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs59311986;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|METTL5|METTL5|transcript|NM_001293186.1|protein_coding|3/7|c.225-55delG||||||,A|intron_variant|MODIFIER|METTL5|METTL5|transcript|NM_001293187.1|protein_coding|3/7|c.225-55delG||||||,A|intron_variant|MODIFIER|METTL5|METTL5|transcript|NM_014168.3|protein_coding|2/6|c.225-55delG||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=1301;p3_1000G_AF=0.259784;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=18812;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170677837;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,13:13:39:492,39,0
chr2	169905977	rs10171268	C	T	1012.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.94;SOR=1.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10171268;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|9/38|c.1646-54C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.9085;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18137;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170762487;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1041,105,0
chr2	169906056	rs10194785	A	T	1743.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=2.08;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.68;ReadPosRankSum=1.83;SOR=0.278;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10194785;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|UBR3|UBR3|transcript|NM_172070.3|protein_coding|10/39|c.1671A>T|p.Leu557Leu|1671/7953|1671/5667|557/1888||;p3_1000G_AA=A|||;p3_1000G_AC=1388;p3_1000G_AF=0.277157;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=16538;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.1581;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170762566;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=383,1001;ESP6500_AA_GTC=58,267,367;ESP6500_CDS_SIZES=NM_172070.3:5667;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=108;ESP6500_EA_AC=545,2637;ESP6500_EA_GTC=49,447,1095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172070.3:coding-synonymous;ESP6500_GL=UBR3;ESP6500_GRCh38_POSITION=2:169906056;ESP6500_GTC=107,714,1462;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_172070.3:c.1671A>T;ESP6500_HGVS_PROTEIN_VAR=NM_172070.3:p.(L557);ESP6500_MAF=17.1276,27.6734,20.3241;ESP6500_TAC=928,3638	GT:AD:DP:GQ:PL	1/1:1,62:63:99:1772,179,0
chr2	169928619	rs898849	A	G	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs898849;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|17/38|c.2425-108A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4892;p3_1000G_AF=0.976837;p3_1000G_AFR_AF=0.9138;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16302;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170785129;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr2	169964500	rs10197085	A	G	744.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.03;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10197085;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|24/38|c.3634+5974A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1408;p3_1000G_AF=0.28115;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=19539;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170821010;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:773,72,0
chr2	169994228	rs1461959	T	C	356.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1461959;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|25/38|c.3785-95T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4917;p3_1000G_AF=0.981829;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17434;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170850738;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:385,30,0
chr2	170015440	rs16857446	T	G	312.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16857446;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|30/38|c.4453+74T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1231;p3_1000G_AF=0.245807;p3_1000G_AFR_AF=0.1687;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=15570;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170871950;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:341,27,0
chr2	170015466	rs13028230	A	G	177.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13028230;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|30/38|c.4453+100A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3351;p3_1000G_AF=0.669129;p3_1000G_AFR_AF=0.4697;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=14990;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170871976;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:206,15,0
chr2	170055440	rs6741614	T	C	1094.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.41;SOR=1.547;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6741614;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|32/38|c.4661-20T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1206;p3_1000G_AF=0.240815;p3_1000G_AFR_AF=0.1604;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=20710;p3_1000G_EAS_AF=0.3621;p3_1000G_EUR_AF=0.164;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170911950;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=722,3684;ESP6500_AA_AGE=298.7+/-285.4;ESP6500_AA_GTC=63,596,1544;ESP6500_CDS_SIZES=NM_172070.3:5667;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=91;ESP6500_EA_AC=1443,7157;ESP6500_EA_AGE=276.9+/-292.6;ESP6500_EA_GTC=125,1193,2982;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172070.3:intron;ESP6500_GL=UBR3;ESP6500_GRCh38_POSITION=2:170055440;ESP6500_GTC=188,1789,4526;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_172070.3:c.4661-20T>C;ESP6500_MAF=16.7791,16.3867,16.6462;ESP6500_TAC=2165,10841	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1123,108,0
chr2	170061138	rs10203212	A	G	781.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.96;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10203212;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|UBR3|UBR3|transcript|NM_172070.3|protein_coding|34/39|c.4845A>G|p.Leu1615Leu|4845/7953|4845/5667|1615/1888||;p3_1000G_AA=A|||;p3_1000G_AC=1663;p3_1000G_AF=0.332069;p3_1000G_AFR_AF=0.3185;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=16483;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170917648;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4519;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1437,2969;ESP6500_AA_AGE=452.2+/-349.9;ESP6500_AA_GTC=229,979,995;ESP6500_CDS_SIZES=NM_172070.3:5667;ESP6500_CG=-10.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=82;ESP6500_EA_AC=2198,6398;ESP6500_EA_AGE=370.9+/-336.0;ESP6500_EA_GTC=287,1624,2387;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_172070.3:coding-synonymous;ESP6500_GL=UBR3;ESP6500_GRCh38_POSITION=2:170061138;ESP6500_GTC=516,2603,3382;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_172070.3:c.4845A>G;ESP6500_HGVS_PROTEIN_VAR=NM_172070.3:p.(L1615);ESP6500_MAF=25.57,32.6146,27.9572;ESP6500_TAC=3635,9367	GT:AD:DP:GQ:PL	1/1:0,29:29:87:810,87,0
chr2	170061473	rs35032863;rs35468564;rs397762129;rs559346011	CT	C	844.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.553;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=24.14;ReadPosRankSum=1.07;SOR=1.28;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35032863,rs35468564;dbSNPBuildID=137,142,138,126;ANN=C|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|35/38|c.5019+42delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:2,33:35:68:882,68,0
chr2	170073370	rs10202446	G	A	152.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10202446;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|UBR3|UBR3|transcript|NM_172070.3|protein_coding|35/38|c.5020-58G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1704;p3_1000G_AF=0.340256;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=17548;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=170929880;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:181,15,0
chr2	170150334	rs371618394	T	C	21.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs371618394;dbSNPBuildID=138;ANN=C|intergenic_region|MODIFIER|UBR3-MYO3B|UBR3-MYO3B|intergenic_region|UBR3-MYO3B|||n.170150334T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=2025;p3_1000G_AF=0.404353;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=7285;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171006844;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr2	170150392	rs113579118	G	A	21.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs113579118;dbSNPBuildID=132;ANN=A|intergenic_region|MODIFIER|UBR3-MYO3B|UBR3-MYO3B|intergenic_region|UBR3-MYO3B|||n.170150392G>A||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr2	170199262	rs35745676	A	G	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.209;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.56;ReadPosRankSum=0.708;SOR=0.877;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35745676;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|2/35|c.57A>G|p.Ser19Ser|200/6212|57/4026|19/1341||,G|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|2/34|c.57A>G|p.Ser19Ser|200/6131|57/3945|19/1314||,G|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|2/36|n.200A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|2/36|n.200A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|2/35|n.200A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=666;p3_1000G_AF=0.132987;p3_1000G_AFR_AF=0.1324;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=16984;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.0089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171055772;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=444,3284;ESP6500_AA_GTC=27,390,1447;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-11.1;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=78;ESP6500_EA_AC=23,8153;ESP6500_EA_GTC=0,23,4065;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:coding-synonymous,NM_001083615.3:coding-synonymous;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170199262;ESP6500_GTC=27,413,5512;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.57A>G,NM_001083615.3:c.57A>G;ESP6500_HGVS_PROTEIN_VAR=NM_138995.4:p.(S19),NM_001083615.3:p.(S19);ESP6500_MAF=0.2813,11.9099,3.9231;ESP6500_TAC=467,11437	GT:AD:DP:GQ:PL	0/1:22,10:32:99:174,0,493
chr2	170214300	rs67994603	G	T	183.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.97;ReadPosRankSum=-0.18;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67994603;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|3/34|c.322-79G>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|3/33|c.322-79G>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|3/35|n.465-79G>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|3/35|n.465-79G>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|3/34|n.465-79G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2737;p3_1000G_AF=0.546526;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=16461;p3_1000G_EAS_AF=0.5466;p3_1000G_EUR_AF=0.5388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171070810;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:48:212,0,48
chr2	170214340	rs13423313	G	T	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.473;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=7.334;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-1.134;SOR=2.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13423313;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|3/34|c.322-39G>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|3/33|c.322-39G>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|3/35|n.465-39G>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|3/35|n.465-39G>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|3/34|n.465-39G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2034;p3_1000G_AF=0.40615;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=17762;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.3777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171070850;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1492,2348;ESP6500_AA_GTC=281,930,709;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=49;ESP6500_EA_AC=3189,5061;ESP6500_EA_GTC=647,1895,1583;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:intron,NM_001083615.3:intron;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170214340;ESP6500_GTC=928,2825,2292;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.322-39G>T,NM_001083615.3:c.322-39G>T;ESP6500_MAF=38.6545,38.8542,38.7179;ESP6500_TAC=4681,7409	GT:AD:DP:GQ:PL	0/1:17,14:31:99:384,0,450
chr2	170214402	rs13385825	T	C	717.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.326;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.261;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13385825;dbSNPBuildID=121;ANN=C|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|4/35|c.345T>C|p.Thr115Thr|488/6212|345/4026|115/1341||,C|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|4/34|c.345T>C|p.Thr115Thr|488/6131|345/3945|115/1314||,C|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|4/36|n.488T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|4/36|n.488T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|4/35|n.488T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2092;p3_1000G_AF=0.417732;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=18082;p3_1000G_EAS_AF=0.4494;p3_1000G_EUR_AF=0.3787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171070912;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1612,2324;ESP6500_AA_GTC=333,946,689;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=83;ESP6500_EA_AC=3233,5099;ESP6500_EA_GTC=656,1921,1589;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:coding-synonymous,NM_001083615.3:coding-synonymous;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170214402;ESP6500_GTC=989,2867,2278;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.345T>C,NM_001083615.3:c.345T>C;ESP6500_HGVS_PROTEIN_VAR=NM_138995.4:p.(T115),NM_001083615.3:p.(T115);ESP6500_MAF=38.8022,40.9553,39.493;ESP6500_TAC=4845,7423	GT:AD:DP:GQ:PL	0/1:20,30:50:99:746,0,486
chr2	170214859	rs4667626	C	T	1005.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667626;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|5/34|c.526+31C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|5/33|c.526+31C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|5/35|n.669+31C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|5/35|n.669+31C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|5/34|n.669+31C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4769;p3_1000G_AF=0.952276;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=18594;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171071369;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9703;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3584,290;ESP6500_AA_GTC=1657,270,10;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=62;ESP6500_EA_AC=7477,835;ESP6500_EA_GTC=3368,741,47;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:intron,NM_001083615.3:intron;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170214859;ESP6500_GTC=5025,1011,57;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.526+31C>T,NM_001083615.3:c.526+31C>T;ESP6500_MAF=10.0457,7.4858,9.2319;ESP6500_TAC=11061,1125	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1034,96,0
chr2	170217171	rs2032959	A	G	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.812;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-0.447;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2032959;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|5/34|c.527-148A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|5/33|c.527-148A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|5/35|n.670-148A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|5/35|n.670-148A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|5/34|n.670-148A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=475;p3_1000G_AF=0.0948482;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=18036;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171073681;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:75:196,0,75
chr2	170217377	rs2161916	G	A	411.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=1.17;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2161916;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|6/35|c.585G>A|p.Pro195Pro|728/6212|585/4026|195/1341||,A|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|6/34|c.585G>A|p.Pro195Pro|728/6131|585/3945|195/1314||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|6/36|n.728G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|6/36|n.728G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|6/35|n.728G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2888;p3_1000G_AF=0.576677;p3_1000G_AFR_AF=0.6316;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=19832;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171073887;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2426,1418;ESP6500_AA_GTC=753,920,249;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-7.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=222;ESP6500_EA_AC=4542,3728;ESP6500_EA_GTC=1261,2020,854;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:coding-synonymous,NM_001083615.3:coding-synonymous;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170217377;ESP6500_GTC=2014,2940,1103;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.585G>A,NM_001083615.3:c.585G>A;ESP6500_HGVS_PROTEIN_VAR=NM_138995.4:p.(P195),NM_001083615.3:p.(P195);ESP6500_MAF=45.0786,36.8887,42.4798;ESP6500_TAC=6968,5146	GT:AD:DP:GQ:PL	0/1:29,20:49:99:440,0,729
chr2	170217498	rs6713360	G	C	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.466;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6713360;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|6/34|c.603+103G>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|6/33|c.603+103G>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|6/35|n.746+103G>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|6/35|n.746+103G>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|6/34|n.746+103G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1506;p3_1000G_AF=0.300719;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=21523;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.3499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171074008;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:264,0,221
chr2	170235935	rs1035625	A	G	897.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1035625;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|6/34|c.604-56A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|6/33|c.604-56A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|6/35|n.747-56A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|6/35|n.747-56A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|6/34|n.747-56A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3245;p3_1000G_AF=0.647963;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=19552;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.6451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171092445;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:926,72,0
chr2	170335574	rs12466203	G	A	375.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.16;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12466203;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|LOC101929753|LOC101929753|transcript|NR_110576.1|pseudogene||n.*4943C>T|||||4943|,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|8/34|c.815+124G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|8/33|c.815+124G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|8/35|n.958+124G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|8/35|n.958+124G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|8/34|n.958+124G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3162;p3_1000G_AF=0.63139;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=20086;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171192084;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:404,33,0
chr2	170386323	rs17607300	A	G	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=0.221;SOR=1.3;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17607300;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|13/34|c.1374+51A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|13/33|c.1374+51A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|13/35|n.1517+51A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|13/35|n.1517+51A>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|13/34|n.1517+51A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=254;p3_1000G_AF=0.0507188;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=20848;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171242833;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=8,3778;ESP6500_AA_GTC=0,8,1885;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=62;ESP6500_EA_AC=14,8212;ESP6500_EA_GTC=0,14,4099;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:intron,NM_001083615.3:intron;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170386323;ESP6500_GTC=0,22,5984;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.1374+51A>G,NM_001083615.3:c.1374+51A>G;ESP6500_MAF=0.1702,0.2113,0.1832;ESP6500_TAC=22,11990	GT:AD:DP:GQ:PL	0/1:15,8:23:99:217,0,394
chr2	170402798	rs17579757	T	G	684.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17579757;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|18/34|c.2130-50T>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|18/33|c.2130-50T>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|18/35|n.2273-50T>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|18/35|n.2273-50T>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|18/34|n.2273-50T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1195;p3_1000G_AF=0.238618;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=18053;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.1312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171259308;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3006;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=480,3328;ESP6500_AA_GTC=35,410,1459;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=51;ESP6500_EA_AC=986,7270;ESP6500_EA_GTC=55,876,3197;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:intron,NM_001083615.3:intron;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170402798;ESP6500_GTC=90,1286,4656;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.2130-50T>G,NM_001083615.3:c.2130-50T>G;ESP6500_MAF=11.9428,12.605,12.1519;ESP6500_TAC=1466,10598	GT:AD:DP:GQ:PL	1/1:0,19:19:57:713,57,0
chr2	170404198	rs10930425	C	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.968;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=0.426;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10930425;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|19/34|c.2278-49C>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|19/33|c.2278-49C>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|19/35|n.2421-49C>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|19/35|n.2421-49C>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|19/34|n.2421-49C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=3908;p3_1000G_AF=0.780351;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=20322;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171260708;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2734,1048;ESP6500_AA_GTC=989,756,146;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=124;ESP6500_EA_AC=7417,819;ESP6500_EA_GTC=3339,739,40;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:intron,NM_001083615.3:intron;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170404198;ESP6500_GTC=4328,1495,186;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.2278-49C>A,NM_001083615.3:c.2278-49C>A;ESP6500_MAF=9.9441,27.7102,15.535;ESP6500_TAC=10151,1867	GT:AD:DP:GQ:PL	0/1:4,13:17:99:337,0,120
chr2	170404277	rs6736609	G	A	572.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.384;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.751;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.775;SOR=0.356;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6736609;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|20/35|c.2308G>A|p.Val770Ile|2451/6212|2308/4026|770/1341||,A|missense_variant|MODERATE|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|20/34|c.2308G>A|p.Val770Ile|2451/6131|2308/3945|770/1314||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|20/36|n.2451G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|20/36|n.2451G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|20/35|n.2451G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3907;p3_1000G_AF=0.780152;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=18168;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171260787;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2784,1054;ESP6500_AA_GTC=1014,756,149;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=151;ESP6500_EA_AC=7435,827;ESP6500_EA_GTC=3344,747,40;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138995.4:missense,NM_001083615.3:missense;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170404277;ESP6500_GS=29,29;ESP6500_GTC=4358,1503,189;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.2308G>A,NM_001083615.3:c.2308G>A;ESP6500_HGVS_PROTEIN_VAR=NM_138995.4:p.(V770I),NM_001083615.3:p.(V770I);ESP6500_MAF=10.0097,27.4622,15.5455;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=10219,1881	GT:AD:DP:GQ:PL	0/1:17,27:44:99:601,0,447
chr2	170404310	rs6751520	T	C	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.15;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.177;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.738;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6751520;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|20/35|c.2341T>C|p.Leu781Leu|2484/6212|2341/4026|781/1341||,C|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|20/34|c.2341T>C|p.Leu781Leu|2484/6131|2341/3945|781/1314||,C|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|20/36|n.2484T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|20/36|n.2484T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|20/35|n.2484T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3911;p3_1000G_AF=0.78095;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=18753;p3_1000G_EAS_AF=0.7321;p3_1000G_EUR_AF=0.8966;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171260820;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2771,1043;ESP6500_AA_GTC=1010,751,146;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=117;ESP6500_EA_AC=7408,826;ESP6500_EA_GTC=3332,744,41;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:coding-synonymous,NM_001083615.3:coding-synonymous;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170404310;ESP6500_GTC=4342,1495,187;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.2341T>C,NM_001083615.3:c.2341T>C;ESP6500_HGVS_PROTEIN_VAR=NM_138995.4:p.(L781),NM_001083615.3:p.(L781);ESP6500_MAF=10.0316,27.3466,15.5129;ESP6500_TAC=10179,1869	GT:AD:DP:GQ:PL	0/1:21,22:43:99:618,0,491
chr2	170407581	rs138990294	T	TGCTCTGGATATGAAAGCTCTGGATATGAAA	366.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.84;SOR=4.407;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs138990294;dbSNPBuildID=134;ANN=TGCTCTGGATATGAAAGCTCTGGATATGAAA|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|21/34|c.2521-116_2521-115insCTGGATATGAAAGCTCTGGATATGAAAGCT||||||INFO_REALIGN_3_PRIME,TGCTCTGGATATGAAAGCTCTGGATATGAAA|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|21/33|c.2521-116_2521-115insCTGGATATGAAAGCTCTGGATATGAAAGCT||||||INFO_REALIGN_3_PRIME,TGCTCTGGATATGAAAGCTCTGGATATGAAA|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|21/35|n.2664-116_2664-115insCTGGATATGAAAGCTCTGGATATGAAAGCT||||||INFO_REALIGN_3_PRIME,TGCTCTGGATATGAAAGCTCTGGATATGAAA|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|21/35|n.2664-116_2664-115insCTGGATATGAAAGCTCTGGATATGAAAGCT||||||INFO_REALIGN_3_PRIME,TGCTCTGGATATGAAAGCTCTGGATATGAAA|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|21/34|n.2664-116_2664-115insCTGGATATGAAAGCTCTGGATATGAAAGCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=860;p3_1000G_AF=0.171725;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=22185;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.0656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171264091;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:27:404,27,0
chr2	170407669	rs72876321	C	T	1098.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.32;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72876321;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|21/34|c.2521-46C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|21/33|c.2521-46C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|21/35|n.2664-46C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|21/35|n.2664-46C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|21/34|n.2664-46C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=840;p3_1000G_AF=0.167732;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=20500;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.0666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171264179;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=137,3619;ESP6500_AA_GTC=3,131,1744;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=158;ESP6500_EA_AC=466,7756;ESP6500_EA_GTC=12,442,3657;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:intron,NM_001083615.3:intron;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170407669;ESP6500_GTC=15,573,5401;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.2521-46C>T,NM_001083615.3:c.2521-46C>T;ESP6500_MAF=5.6677,3.6475,5.0342;ESP6500_TAC=603,11375	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1127,102,0
chr2	170444138	rs4667639	T	A	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.69;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=1.12;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4667639;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|23/34|c.2730+92T>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|23/33|c.2730+92T>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|23/35|n.2873+92T>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|23/35|n.2873+92T>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|23/34|n.2873+92T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2225;p3_1000G_AF=0.444289;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=15126;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.4612;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171300648;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,11:19:99:332,0,209
chr2	170498688	rs6761297	A	G	1064.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6761297;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|26/35|c.3111A>G|p.Val1037Val|3254/6212|3111/4026|1037/1341||,G|synonymous_variant|LOW|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|26/34|c.3111A>G|p.Val1037Val|3254/6131|3111/3945|1037/1314||,G|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|26/36|n.3254A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|26/36|n.3254A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|26/35|n.3254A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=20768;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171355198;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3522,194;ESP6500_AA_GTC=1668,186,4;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=-5.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=111;ESP6500_EA_AC=8202,4;ESP6500_EA_GTC=4099,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:coding-synonymous,NM_001083615.3:coding-synonymous;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170498688;ESP6500_GTC=5767,190,4;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.3111A>G,NM_001083615.3:c.3111A>G;ESP6500_HGVS_PROTEIN_VAR=NM_138995.4:p.(V1037),NM_001083615.3:p.(V1037);ESP6500_MAF=0.0487,5.2207,1.6608;ESP6500_TAC=11724,198	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1093,102,0
chr2	170498819	rs6733198	G	C	488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.4;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6733198;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|26/34|c.3126+116G>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|26/33|c.3126+116G>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|26/35|n.3269+116G>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|26/35|n.3269+116G>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|26/34|n.3269+116G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4537;p3_1000G_AF=0.90595;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=20266;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171355329;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:517,39,0
chr2	170499764	rs10185178	G	A	891.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10185178;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|27/35|c.3245G>A|p.Arg1082Lys|3388/6212|3245/4026|1082/1341||,A|missense_variant|MODERATE|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|27/34|c.3245G>A|p.Arg1082Lys|3388/6131|3245/3945|1082/1314||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|27/36|n.3388G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|27/36|n.3388G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|27/35|n.3388G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4524;p3_1000G_AF=0.903355;p3_1000G_AFR_AF=0.6755;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=13061;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171356274;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2856,998;ESP6500_AA_GTC=1058,740,129;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=110;ESP6500_EA_AC=8277,11;ESP6500_EA_GTC=4133,11,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138995.4:missense,NM_001083615.3:missense;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170499764;ESP6500_GS=26,26;ESP6500_GTC=5191,751,129;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.3245G>A,NM_001083615.3:c.3245G>A;ESP6500_HGVS_PROTEIN_VAR=NM_138995.4:p.(R1082K),NM_001083615.3:p.(R1082K);ESP6500_MAF=0.1327,25.8952,8.31;ESP6500_PH=benign:0.005,benign:0.005;ESP6500_TAC=11133,1009	GT:AD:DP:GQ:PL	1/1:0,31:31:93:920,93,0
chr2	170501701	rs7593940	G	A	128.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7593940;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|27/34|c.3290-84G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|27/33|c.3289+1893G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|27/35|n.3433-84G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|27/35|n.3433-84G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|27/34|n.3432+1893G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4537;p3_1000G_AF=0.90595;p3_1000G_AFR_AF=0.6846;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=20060;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171358211;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:156,12,0
chr2	170501964	rs7608168	T	A	688.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7608168;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|28/34|c.3370+99T>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|27/33|c.3289+2156T>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|28/35|n.3513+99T>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|28/35|n.3513+99T>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|27/34|n.3432+2156T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4315;p3_1000G_AF=0.861621;p3_1000G_AFR_AF=0.6551;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=21864;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.9891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171358474;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.907;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:717,66,0
chr2	170543765	rs12623840	T	C	145.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12623840;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|31/34|c.3637-127T>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|30/33|c.3556-127T>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|32/35|n.3902-127T>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|31/35|n.3780-127T>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|30/34|n.3699-127T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=687;p3_1000G_AF=0.137181;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=17831;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171400275;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:174,15,0
chr2	170543799	rs12623859	T	G	232.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12623859;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|31/34|c.3637-93T>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|30/33|c.3556-93T>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|32/35|n.3902-93T>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|31/35|n.3780-93T>G||||||,G|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|30/34|n.3699-93T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=535;p3_1000G_AF=0.106829;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=18651;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171400309;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:261,21,0
chr2	170646820	rs6761488	C	T	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.046;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=5.614;MLEAC=1;MLEAF=0.5;MQ=59.75;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.732;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6761488;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|32/34|c.3734-4808C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|31/33|c.3653-4808C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|33/35|n.3999-4808C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|32/35|n.3877-89C>T||||||,T|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|31/34|n.3796-89C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=818;p3_1000G_AF=0.163339;p3_1000G_AFR_AF=0.1392;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=18745;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.166;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171503330;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:319,0,214
chr2	170651546	rs12999176	T	C	148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=2.67;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12999176;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|32/34|c.3734-82T>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|31/33|c.3653-82T>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|33/35|n.3999-82T>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|33/35|n.3908-82T>C||||||,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|32/34|n.3827-82T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=621;p3_1000G_AF=0.124002;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=21480;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171508056;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:177,0,190
chr2	170651752	rs6724627	G	A	580.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.471;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.374;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.105;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6724627;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|33/34|c.3840+18G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|32/33|c.3759+18G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|34/35|n.4105+18G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|34/35|n.4014+18G>A||||||,A|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|33/34|n.3933+18G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2063;p3_1000G_AF=0.411941;p3_1000G_AFR_AF=0.6944;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=17821;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171508262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2346,1556;ESP6500_AA_GTC=722,902,327;ESP6500_CDS_SIZES=NM_138995.4:4026,NM_001083615.3:3945;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=2375,5927;ESP6500_EA_GTC=336,1703,2112;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138995.4:intron,NM_001083615.3:intron;ESP6500_GL=MYO3B;ESP6500_GRCh38_POSITION=2:170651752;ESP6500_GTC=1058,2605,2439;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_138995.4:c.3840+18G>A,NM_001083615.3:c.3759+18G>A;ESP6500_MAF=28.6076,39.877,38.684;ESP6500_TAC=4721,7483	GT:AD:DP:GQ:PL	0/1:17,24:41:99:609,0,434
chr2	170651980	rs10718459;rs397986626	CA	C	207.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.97;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10718459;dbSNPBuildID=134,138;ANN=C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_138995.4|protein_coding|33/34|c.3841-120delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NM_001083615.3|protein_coding|32/33|c.3760-120delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045682.1|pseudogene|34/35|n.4106-120delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045683.1|pseudogene|34/35|n.4015-120delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|MYO3B|MYO3B|transcript|NR_045684.1|pseudogene|33/34|n.3934-120delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,8:8:24:245,24,0
chr2	170716430	rs3749036	G	A	775.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.937;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=8.267;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.36;SOR=0.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749036;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|SP5|SP5|transcript|NM_001003845.2|protein_coding|2/2|c.223G>A|p.Ala75Thr|389/1947|223/1197|75/398||,A|upstream_gene_variant|MODIFIER|LINC01124|LINC01124|transcript|NR_027433.1|pseudogene||n.-1863C>T|||||1863|,A|intron_variant|MODIFIER|LOC101926913|LOC101926913|transcript|NR_110185.1|pseudogene|5/5|n.376+7074C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2195;p3_1000G_AF=0.438299;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=7969;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.3012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171572940;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1960,2092;ESP6500_AA_GTC=529,902,595;ESP6500_CDS_SIZES=NM_001003845.2:1197;ESP6500_CG=0.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=10;ESP6500_EA_AC=2697,5473;ESP6500_EA_GTC=538,1621,1926;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001003845.2:missense;ESP6500_GL=SP5;ESP6500_GRCh38_POSITION=2:170716430;ESP6500_GS=58;ESP6500_GTC=1067,2523,2521;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001003845.2:c.223G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001003845.2:p.(A75T);ESP6500_MAF=33.011,48.3712,38.1034;ESP6500_PH=benign:0.0;ESP6500_TAC=4657,7565	GT:AD:DP:GQ:PL	0/1:19,33:52:99:804,0,480
chr2	170716675	rs1134626	G	T	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.142;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=5.59;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.861;SOR=1.567;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1134626;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|SP5|SP5|transcript|NM_001003845.2|protein_coding|2/2|c.468G>T|p.Pro156Pro|634/1947|468/1197|156/398||,T|upstream_gene_variant|MODIFIER|LINC01124|LINC01124|transcript|NR_027433.1|pseudogene||n.-2108C>A|||||2108|,T|intron_variant|MODIFIER|LOC101926913|LOC101926913|transcript|NR_110185.1|pseudogene|5/5|n.376+6829C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1034;p3_1000G_AF=0.20647;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=6711;p3_1000G_EAS_AF=0.1815;p3_1000G_EUR_AF=0.3579;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171573185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=219,2535;ESP6500_AA_GTC=16,187,1174;ESP6500_CDS_SIZES=NM_001003845.2:1197;ESP6500_CG=-7.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=6;ESP6500_EA_AC=2090,4520;ESP6500_EA_GTC=318,1454,1533;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001003845.2:coding-synonymous;ESP6500_GL=SP5;ESP6500_GRCh38_POSITION=2:170716675;ESP6500_GTC=334,1641,2707;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001003845.2:c.468G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001003845.2:p.(P156);ESP6500_MAF=31.6188,7.9521,24.6583;ESP6500_TAC=2309,7055	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,13:28:99:0|1:170716675_G_T:339,0,459
chr2	170771129	rs1106746	G	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=1.54;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1106746;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|ERICH2|ERICH2|transcript|NM_001290030.1|protein_coding|1/10|c.448G>A|p.Ala150Thr|448/1388|448/1311|150/436||,A|missense_variant|MODERATE|ERICH2|ERICH2|transcript|NM_001290031.1|protein_coding|1/4|c.448G>A|p.Ala150Thr|448/1052|448/627|150/208||,A|upstream_gene_variant|MODIFIER|LOC101926913|LOC101926913|transcript|NR_110185.1|pseudogene||n.-363C>T|||||363|,A|non_coding_transcript_exon_variant|MODIFIER|ERICH2|ERICH2|transcript|NR_110644.1|pseudogene|1/5|n.448G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=273;p3_1000G_AF=0.0545128;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=7921;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171627639;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,13:33:99:240,0,396
chr2	170771166	rs1861462	T	G	841.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.06;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1861462;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|ERICH2|ERICH2|transcript|NM_001290030.1|protein_coding|1/10|c.485T>G|p.Leu162Arg|485/1388|485/1311|162/436||,G|missense_variant|MODERATE|ERICH2|ERICH2|transcript|NM_001290031.1|protein_coding|1/4|c.485T>G|p.Leu162Arg|485/1052|485/627|162/208||,G|upstream_gene_variant|MODIFIER|LOC101926913|LOC101926913|transcript|NR_110185.1|pseudogene||n.-400A>C|||||400|,G|non_coding_transcript_exon_variant|MODIFIER|ERICH2|ERICH2|transcript|NR_110644.1|pseudogene|1/5|n.485T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4777;p3_1000G_AF=0.953874;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=8407;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171627676;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:870,90,0
chr2	170777044	rs17694562	A	G	86.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.494;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=0.998;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17694562;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|ERICH2|ERICH2|transcript|NM_001290030.1|protein_coding|1/9|c.507-103A>G||||||,G|intron_variant|MODIFIER|ERICH2|ERICH2|transcript|NM_001290031.1|protein_coding|1/3|c.507-103A>G||||||,G|intron_variant|MODIFIER|ERICH2|ERICH2|transcript|NR_110644.1|pseudogene|2/4|n.814-103A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1120;p3_1000G_AF=0.223642;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=16095;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171633554;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:115,0,170
chr2	170777594	rs55923006	C	T	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.404;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.645;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55923006;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ERICH2|ERICH2|transcript|NM_001290030.1|protein_coding|3/9|c.587-50C>T||||||,T|intron_variant|MODIFIER|ERICH2|ERICH2|transcript|NM_001290031.1|protein_coding|3/3|c.587-50C>T||||||,T|intron_variant|MODIFIER|ERICH2|ERICH2|transcript|NR_110644.1|pseudogene|4/4|n.894-50C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1097;p3_1000G_AF=0.21905;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=17502;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171634104;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,20:46:99:477,0,745
chr2	170792892	rs3764916	C	T	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.389;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=0;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3764916;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|ERICH2|ERICH2|transcript|NM_001290030.1|protein_coding|8/10|c.1086C>T|p.Tyr362Tyr|1086/1388|1086/1311|362/436||,T|synonymous_variant|LOW|ERICH2|ERICH2|transcript|NM_001289947.1|protein_coding|3/5|c.246C>T|p.Tyr82Tyr|299/601|246/471|82/156||;p3_1000G_AA=C|||;p3_1000G_AC=1448;p3_1000G_AF=0.289137;p3_1000G_AFR_AF=0.0734;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=18432;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.2873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171649402;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:82:82,0,279
chr2	170798153	rs2287111	A	C	495.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.22;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.846;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-1.393;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287111;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ERICH2|ERICH2|transcript|NM_001290030.1|protein_coding|9/9|c.1186+41A>C||||||,C|intron_variant|MODIFIER|ERICH2|ERICH2|transcript|NM_001289947.1|protein_coding|4/4|c.346+41A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3530;p3_1000G_AF=0.704872;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=20101;p3_1000G_EAS_AF=0.8145;p3_1000G_EUR_AF=0.67;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171654663;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,17:31:99:524,0,350
chr2	170836945	rs769390	A	C	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.439;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.732;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs769390;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|GAD1|GAD1|transcript|NM_000817.2|protein_coding|6/16|c.638+62A>C||||||,C|intron_variant|MODIFIER|GAD1|GAD1|transcript|NM_013445.3|protein_coding|6/6|c.638+62A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1043;p3_1000G_AF=0.208267;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=18592;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.2803;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171693455;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:85:156,0,85
chr2	170845970	rs701492	C	T	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.05;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=0.317;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs701492;dbSNPBuildID=98;ANN=T|downstream_gene_variant|MODIFIER|GAD1|GAD1|transcript|NM_013445.3|protein_coding||c.*3365C>T|||||3211|,T|intron_variant|MODIFIER|GAD1|GAD1|transcript|NM_000817.2|protein_coding|9/16|c.948-39C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1467;p3_1000G_AF=0.292931;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=18292;p3_1000G_EAS_AF=0.2669;p3_1000G_EUR_AF=0.2903;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171702480;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1157,3245;ESP6500_AA_AGE=649.3+/-398.9;ESP6500_AA_GTC=160,837,1204;ESP6500_CDS_SIZES=NM_000817.2:1785;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=45;ESP6500_EA_AC=2410,6190;ESP6500_EA_AGE=678.8+/-403.5;ESP6500_EA_GTC=342,1726,2232;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000817.2:intron;ESP6500_GL=GAD1;ESP6500_GRCh38_POSITION=2:170845970;ESP6500_GTC=502,2563,3436;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000817.2:c.948-39C>T;ESP6500_MAF=28.0233,26.2835,27.4342;ESP6500_TAC=3567,9435	GT:AD:DP:GQ:PL	0/1:4,13:17:82:320,0,82
chr2	170929659	rs2676158	A	G	288.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2676158;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GORASP2|GORASP2|transcript|NM_015530.4|protein_coding|1/9|c.63+256A>G||||||,G|intron_variant|MODIFIER|GORASP2|GORASP2|transcript|NM_001201428.1|protein_coding|1/9|c.-142+1099A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4412;p3_1000G_AF=0.88099;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.9323;p3_1000G_AN=5008;p3_1000G_DP=12022;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171786169;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:317,30,0
chr2	170961779	rs2557804	G	A	1633.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.835;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2557804;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|GORASP2|GORASP2|transcript|NM_015530.4|protein_coding|8/9|c.910+30G>A||||||,A|intron_variant|MODIFIER|GORASP2|GORASP2|transcript|NM_001201428.1|protein_coding|8/9|c.706+30G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21184;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171818289;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1662,162,0
chr2	170965956	rs4668356	C	T	2222.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4668356;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|GORASP2|GORASP2|transcript|NM_015530.4|protein_coding|10/10|c.1185C>T|p.Ser395Ser|2000/3177|1185/1359|395/452||,T|synonymous_variant|LOW|GORASP2|GORASP2|transcript|NM_001201428.1|protein_coding|10/10|c.981C>T|p.Ser327Ser|1245/2422|981/1155|327/384||;p3_1000G_AA=C|||;p3_1000G_AC=4208;p3_1000G_AF=0.840256;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DP=17005;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171822466;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2621,1785;ESP6500_AA_AGE=642.6+/-397.7;ESP6500_AA_GTC=782,1057,364;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...19734545;ESP6500_CDS_SIZES=NM_015530.4:1359,NM_001201428.1:1155;ESP6500_CG=-0.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=73;ESP6500_EA_AC=8007,593;ESP6500_EA_AGE=792.3+/-407.5;ESP6500_EA_GTC=3729,549,22;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015530.4:coding-synonymous,NM_001201428.1:coding-synonymous;ESP6500_GL=GORASP2;ESP6500_GRCh38_POSITION=2:170965956;ESP6500_GTC=4511,1606,386;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...19734545;ESP6500_HGVS_CDNA_VAR=NM_015530.4:c.1185C>T,NM_001201428.1:c.981C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015530.4:p.(S395),NM_001201428.1:p.(S327);ESP6500_MAF=6.8953,40.5129,18.2839;ESP6500_TAC=10628,2378	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2251,219,0
chr2	171046094	rs6751462	A	T	510.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6751462;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_012290.4|protein_coding|11/20|c.1169+80T>A||||||,T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_001136555.1|protein_coding|9/18|c.881+80T>A||||||,T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_001136554.1|protein_coding|11/20|c.1025+80T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4565;p3_1000G_AF=0.911542;p3_1000G_AFR_AF=0.6982;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=17773;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171902604;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:539,48,0
chr2	171056401	rs17283147	A	T	220.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.6;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17283147;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_012290.4|protein_coding|6/20|c.549+70T>A||||||,T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_001136555.1|protein_coding|4/18|c.261+70T>A||||||,T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_001136554.1|protein_coding|6/20|c.405+70T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3321;p3_1000G_AF=0.663139;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=17042;p3_1000G_EAS_AF=0.9524;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171912911;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:249,24,0
chr2	171059861	rs3731990	C	T	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731990;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_012290.4|protein_coding|4/20|c.406+1220G>A||||||,T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_001136555.1|protein_coding|2/18|c.118+1220G>A||||||,T|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_001136554.1|protein_coding|4/20|c.262+1220G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2579;p3_1000G_AF=0.514976;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=18412;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.6193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171916371;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:535,51,0
chr2	171059985	rs3821087	C	A	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.634;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.836;SOR=0.683;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821087;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_012290.4|protein_coding|4/20|c.406+1096G>T||||||,A|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_001136555.1|protein_coding|2/18|c.118+1096G>T||||||,A|intron_variant|MODIFIER|TLK1|TLK1|transcript|NM_001136554.1|protein_coding|4/20|c.262+1096G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=300;p3_1000G_AF=0.0599042;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=18074;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=171916495;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=24,1728;ESP6500_AA_GTC=0,24,852;ESP6500_CDS_SIZES=NM_012290.4:2301,NM_001136555.1:2013,NM_001136554.1:2157;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=90;ESP6500_EA_AC=250,3732;ESP6500_EA_GTC=9,232,1750;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012290.4:intron,NM_001136555.1:intron,NM_001136554.1:intron;ESP6500_GL=TLK1;ESP6500_GRCh38_POSITION=2:171059985;ESP6500_GTC=9,256,2602;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_012290.4:c.406+1096G>T,NM_001136555.1:c.118+1096G>T,NM_001136554.1:c.262+1096G>T;ESP6500_MAF=6.2783,1.3699,4.7785;ESP6500_TAC=274,5460	GT:AD:DP:GQ:PL	0/1:15,21:36:99:465,0,456
chr2	171517221	rs778395084	CTTTT	C	1217.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.32;ReadPosRankSum=-0.135;SOR=1.23;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intergenic_region|MODIFIER|DCAF17-CYBRD1|DCAF17-CYBRD1|intergenic_region|DCAF17-CYBRD1|||n.171517222_171517225delTTTT||||||	GT:AD:DP:GQ:PL	1/0:2,14:16:99:1255,554,621
chr2	171517221	.	CTTTT	CT	1217.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.32;ReadPosRankSum=-0.135;SOR=1.23;DEL;HET;VARTYPE=DEL;ANN=CT|intergenic_region|MODIFIER|DCAF17-CYBRD1|DCAF17-CYBRD1|intergenic_region|DCAF17-CYBRD1|||n.171517223_171517225delTTT||||||	GT:AD:DP:GQ:PL	0/1:2,27:29:99:1255,330,255
chr2	171517490	rs6433295	T	G	581.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=49.86;QD=29.09;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433295;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding||c.-5056T>G|||||4866|,G|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding||c.-4783T>G|||||4757|,G|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding||c.-5056T>G|||||4866|,G|intergenic_region|MODIFIER|DCAF17-CYBRD1|DCAF17-CYBRD1|intergenic_region|DCAF17-CYBRD1|||n.171517490T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=3528;p3_1000G_AF=0.704473;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=14884;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.7614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172374000;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:610,60,0
chr2	171517568	rs6433296	C	G	360.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.43;QD=29.56;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433296;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding||c.-4978C>G|||||4788|,G|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding||c.-4705C>G|||||4679|,G|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding||c.-4978C>G|||||4788|,G|intergenic_region|MODIFIER|DCAF17-CYBRD1|DCAF17-CYBRD1|intergenic_region|DCAF17-CYBRD1|||n.171517568C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=3003;p3_1000G_AF=0.599641;p3_1000G_AFR_AF=0.3949;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=14817;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.6243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172374078;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:389,30,0
chr2	171517610	rs6724344	G	A	428.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=58.37;QD=32.98;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6724344;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding||c.-4936G>A|||||4746|,A|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding||c.-4663G>A|||||4637|,A|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding||c.-4936G>A|||||4746|,A|intergenic_region|MODIFIER|DCAF17-CYBRD1|DCAF17-CYBRD1|intergenic_region|DCAF17-CYBRD1|||n.171517610G>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=2999;p3_1000G_AF=0.598842;p3_1000G_AFR_AF=0.3933;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=16682;p3_1000G_EAS_AF=0.7361;p3_1000G_EUR_AF=0.6243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172374120;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:457,39,0
chr2	171522308	rs868106	A	G	910.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=1.46;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs868106;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding||c.-238A>G|||||48|,G|upstream_gene_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding||c.-238A>G|||||48|,G|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding|1/3|c.19+17A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3644;p3_1000G_AF=0.727636;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=15059;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172378818;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:939,87,0
chr2	171522379	rs2356782	C	G	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=37.92;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2356782;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding|1/4|c.-167C>G|||||167|,G|5_prime_UTR_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding|1/3|c.-167C>G|||||167|,G|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding|1/3|c.19+88C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3640;p3_1000G_AF=0.726837;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=13345;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172378889;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:171522379_C_G:495,33,0
chr2	171522383	rs3731976	G	A	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731976;dbSNPBuildID=107;ANN=A|5_prime_UTR_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding|1/4|c.-163G>A|||||163|,A|5_prime_UTR_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding|1/3|c.-163G>A|||||163|,A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding|1/3|c.19+92G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2578;p3_1000G_AF=0.514776;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=13250;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.3559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172378893;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:171522379_C_G:495,33,0
chr2	171523176	rs960750	G	A	503.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs960750;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding|1/3|c.193+438G>A||||||,A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding|1/3|c.19+885G>A||||||,A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding|1/2|c.193+438G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3567;p3_1000G_AF=0.71226;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=12485;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172379686;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:532,51,0
chr2	171523271	rs960749	G	A	880.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.52;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs960749;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding|1/3|c.193+533G>A||||||,A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding|1/3|c.19+980G>A||||||,A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding|1/2|c.193+533G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3534;p3_1000G_AF=0.705671;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=15740;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.5219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172379781;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:909,96,0
chr2	171523426	rs960748	G	A	290.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.08;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs960748;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding|1/3|c.193+688G>A||||||,A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding|1/3|c.19+1135G>A||||||,A|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding|1/2|c.193+688G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3544;p3_1000G_AF=0.707668;p3_1000G_AFR_AF=0.798;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=15444;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.5219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172379936;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:319,30,0
chr2	171541801	rs7586144	T	C	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7586144;dbSNPBuildID=116;ANN=C|splice_region_variant&intron_variant|LOW|CYBRD1|CYBRD1|transcript|NM_024843.3|protein_coding|2/3|c.402+8T>C||||||,C|splice_region_variant&intron_variant|LOW|CYBRD1|CYBRD1|transcript|NM_001256909.1|protein_coding|2/3|c.228+8T>C||||||,C|intron_variant|MODIFIER|CYBRD1|CYBRD1|transcript|NM_001127383.1|protein_coding|1/2|c.194-11545T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4028;p3_1000G_AF=0.804313;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=19773;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.7256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172398311;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3656,750;ESP6500_AA_AGE=754.1+/-412.4;ESP6500_AA_GTC=1521,614,68;ESP6500_CDS_SIZES=NM_024843.3:861,NM_001256909.1:687,NM_001127383.1:474;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=89;ESP6500_EA_AC=6239,2361;ESP6500_EA_AGE=699.9+/-405.1;ESP6500_EA_GTC=2279,1681,340;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024843.3:intron,NM_001256909.1:intron,NM_001127383.1:intron;ESP6500_GL=CYBRD1;ESP6500_GRCh38_POSITION=2:171541801;ESP6500_GTC=3800,2295,408;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024843.3:c.402+8T>C,NM_001256909.1:c.228+8T>C,NM_001127383.1:c.194-11545T>C;ESP6500_MAF=27.4535,17.0222,23.9197;ESP6500_TAC=9895,3111	GT:AD:DP:GQ:PL	1/1:0,26:26:78:873,78,0
chr2	171692738	rs6433311	A	G	305.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.8;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433311;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271785.1|protein_coding|2/17|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271786.1|protein_coding|2/15|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271788.1|protein_coding|2/15|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271790.1|protein_coding|2/15|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320882.1|protein_coding|2/16|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001378.2|protein_coding|2/17|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271787.1|protein_coding|2/15|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271789.1|protein_coding|2/15|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320883.1|protein_coding|2/16|c.109-39A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320884.1|protein_coding|2/15|c.109-39A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3597;p3_1000G_AF=0.718251;p3_1000G_AFR_AF=0.5401;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=18451;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.7237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172549248;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2122,1460;ESP6500_AA_GTC=634,854,303;ESP6500_CDS_SIZES=NM_001378.1:1917;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=15;ESP6500_EA_AC=5879,2229;ESP6500_EA_GTC=2142,1595,317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001378.1:intron;ESP6500_GL=DYNC1I2;ESP6500_GRCh38_POSITION=2:171692738;ESP6500_GTC=2776,2449,620;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001378.1:c.109-39A>G;ESP6500_MAF=27.4914,40.7594,31.5569;ESP6500_TAC=8001,3689	GT:AD:DP:GQ:PL	1/1:0,11:11:33:334,33,0
chr2	171725771	rs111251725;rs139032813	A	ATTAC	750.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=1.061;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs60951028,rs139032813,rs111251725;dbSNPBuildID=134,132;ANN=ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271785.1|protein_coding|8/17|c.607+61_607+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271786.1|protein_coding|6/15|c.583+61_583+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271788.1|protein_coding|6/15|c.529+61_529+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271790.1|protein_coding|6/15|c.529+61_529+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320882.1|protein_coding|7/16|c.589+61_589+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001378.2|protein_coding|8/17|c.607+61_607+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271787.1|protein_coding|6/15|c.583+61_583+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271789.1|protein_coding|6/15|c.529+61_529+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320883.1|protein_coding|7/16|c.589+61_589+62insCTTA||||||INFO_REALIGN_3_PRIME,ATTAC|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320884.1|protein_coding|6/15|c.529+61_529+62insCTTA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4994;p3_1000G_AF=0.997204;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=16536;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172582281;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:54:788,54,0
chr2	171726693	rs78270283	A	G	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.82;ReadPosRankSum=-0.712;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78270283;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271785.1|protein_coding|10/17|c.871-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271786.1|protein_coding|8/15|c.847-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271788.1|protein_coding|8/15|c.793-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271790.1|protein_coding|8/15|c.793-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320882.1|protein_coding|9/16|c.853-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001378.2|protein_coding|10/17|c.871-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271787.1|protein_coding|8/15|c.847-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271789.1|protein_coding|8/15|c.793-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320883.1|protein_coding|9/16|c.853-98A>G||||||,G|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320884.1|protein_coding|8/15|c.793-98A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=74;p3_1000G_AF=0.0147764;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=17151;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172583203;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:52:195,0,52
chr2	171744206	rs12619041	C	A	55.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=-1.534;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12619041;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271785.1|protein_coding|16/17|c.1677+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271786.1|protein_coding|14/15|c.1653+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271788.1|protein_coding|14/15|c.1599+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271790.1|protein_coding|14/15|c.1599+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320882.1|protein_coding|15/16|c.1659+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001378.2|protein_coding|16/17|c.1677+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271787.1|protein_coding|14/15|c.1653+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001271789.1|protein_coding|14/15|c.1599+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320883.1|protein_coding|15/16|c.1659+17C>A||||||,A|intron_variant|MODIFIER|DYNC1I2|DYNC1I2|transcript|NM_001320884.1|protein_coding|14/15|c.1599+17C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1339;p3_1000G_AF=0.267372;p3_1000G_AFR_AF=0.0613;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=19306;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172600716;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=301,3323;ESP6500_AA_GTC=13,275,1524;ESP6500_CDS_SIZES=NM_001378.1:1917;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=46;ESP6500_EA_AC=1970,6172;ESP6500_EA_GTC=247,1476,2348;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001378.1:intron;ESP6500_GL=DYNC1I2;ESP6500_GRCh38_POSITION=2:171744206;ESP6500_GTC=260,1751,3872;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001378.1:c.1677+17C>A;ESP6500_MAF=24.1955,8.3057,19.3014;ESP6500_TAC=2271,9495	GT:AD:DP:GQ:PL	0/1:5,3:8:84:84,0,187
chr2	171787719	rs2292813	T	C	1158.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292813;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NM_003705.4|protein_coding|16/17|c.1745-58A>G||||||,C|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NR_047549.1|pseudogene|15/16|n.1721-58A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3964;p3_1000G_AF=0.791534;p3_1000G_AFR_AF=0.5847;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=16195;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.9225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172644229;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1187,102,0
chr2	171826951	rs397964347;rs568223586;rs60452487	C	CA	43.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.967;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs60452487;dbSNPBuildID=142,137,138;ANN=CA|sequence_feature|LOW|SLC25A12|SLC25A12|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_003705.4|protein_coding|8/17|c.846-70dupT||||||,CA|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NM_003705.4|protein_coding|8/17|c.846-70dupT||||||,CA|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NR_047549.1|pseudogene|7/16|n.822-70dupT||||||	GT:AD:DP:GQ:PL	0/1:1,2:3:58:81,0,58
chr2	171833908	rs3736499	C	T	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.224;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.697;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.69;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736499;dbSNPBuildID=107;ANN=T|sequence_feature|LOW|SLC25A12|SLC25A12|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_003705.4|protein_coding|8/17|c.845+55G>A||||||,T|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NM_003705.4|protein_coding|8/17|c.845+55G>A||||||,T|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NR_047549.1|pseudogene|7/16|n.821+55G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1308;p3_1000G_AF=0.261182;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=17711;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172690418;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,11:25:99:262,0,344
chr2	171837270	rs3765166;332344	G	A	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.767;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=1;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.639;SOR=0.557;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765166;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|SLC25A12|SLC25A12|transcript|NM_003705.4|protein_coding|5/17|c.466-3C>T||||||,A|splice_region_variant&intron_variant|LOW|SLC25A12|SLC25A12|transcript|NR_047549.1|pseudogene|4/16|n.442-3C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1339;p3_1000G_AF=0.267372;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=20838;p3_1000G_EAS_AF=0.5675;p3_1000G_EUR_AF=0.2555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172693780;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3129;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=467,3939;ESP6500_AA_AGE=222.3+/-239.2;ESP6500_AA_GTC=19,429,1755;ESP6500_CDS_SIZES=NM_003705.4:2037;ESP6500_CG=-0.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=123;ESP6500_EA_AC=2197,6403;ESP6500_EA_AGE=374.8+/-337.5;ESP6500_EA_GTC=289,1619,2392;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003705.4:intron;ESP6500_GL=SLC25A12;ESP6500_GRCh38_POSITION=2:171837270;ESP6500_GTC=308,2048,4147;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003705.4:c.466-3C>T;ESP6500_MAF=25.5465,10.5992,20.4829;ESP6500_TAC=2664,10342;CLINVAR_AF_ESP=0.2048;CLINVAR_AF_EXAC=0.26711;CLINVAR_AF_TGP=0.2674;CLINVAR_ALLELEID=285231;CLINVAR_CLNDISDB=MedGen:C2751855,OMIM:612949,Orphanet:ORPHA353217;CLINVAR_CLNDN=Hypomyelination,_global_cerebral;CLINVAR_CLNHGVS=NC_000002.12:g.171837270G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53882;CLINVAR_GENEINFO=SLC25A12:8604;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3765166	GT:AD:DP:GQ:PL	0/1:34,28:62:99:618,0,963
chr2	171852705	rs3770444	G	C	1557.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3770444;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NM_003705.4|protein_coding|4/17|c.325+3129C>G||||||,C|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NR_047549.1|pseudogene|3/16|n.302-8197C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3957;p3_1000G_AF=0.790136;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=18214;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.9225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172709215;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8569;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1586,156,0
chr2	171855970	rs2056202	T	C	987.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2056202;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NM_003705.4|protein_coding|3/17|c.210-21A>G||||||,C|intron_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NR_047549.1|pseudogene|3/16|n.302-11462A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3796;p3_1000G_AF=0.757987;p3_1000G_AFR_AF=0.5635;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=18868;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.8708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172712480;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2657,1749;ESP6500_AA_AGE=644.5+/-398.0;ESP6500_AA_GTC=799,1059,345;ESP6500_CDS_SIZES=NM_003705.4:2037;ESP6500_CG=4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=68;ESP6500_EA_AC=7447,1153;ESP6500_EA_AGE=765.5+/-407.6;ESP6500_EA_GTC=3210,1027,63;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003705.4:intron;ESP6500_GL=SLC25A12;ESP6500_GRCh38_POSITION=2:171855970;ESP6500_GTC=4009,2086,408;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003705.4:c.210-21A>G;ESP6500_MAF=13.407,39.6959,22.3128;ESP6500_TAC=10104,2902	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1016,84,0
chr2	171868791	rs1878583;332346	A	G	583.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.34;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1878583;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|SLC25A12|SLC25A12|transcript|NM_003705.4|protein_coding|3/18|c.99T>C|p.Tyr33Tyr|191/3998|99/2037|33/678||,G|non_coding_transcript_exon_variant|MODIFIER|SLC25A12|SLC25A12|transcript|NR_047549.1|pseudogene|3/17|n.191T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3961;p3_1000G_AF=0.790935;p3_1000G_AFR_AF=0.5779;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=15693;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.9225;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172725301;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8579;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2774,1632;ESP6500_AA_AGE=501.2+/-364.9;ESP6500_AA_GTC=877,1020,306;ESP6500_CDS_SIZES=NM_003705.4:2037;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=85;ESP6500_EA_AC=7822,778;ESP6500_EA_AGE=183.0+/-231.3;ESP6500_EA_GTC=3555,712,33;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003705.4:coding-synonymous;ESP6500_GL=SLC25A12;ESP6500_GRCh38_POSITION=2:171868791;ESP6500_GTC=4432,1732,339;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003705.4:c.99T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003705.4:p.(Y33);ESP6500_MAF=9.0465,37.0404,18.5299;ESP6500_TAC=10596,2410;CLINVAR_ALLELEID=282898;CLINVAR_CLNDISDB=MedGen:C2751855,OMIM:612949,Orphanet:ORPHA353217;CLINVAR_CLNDN=Hypomyelination,_global_cerebral;CLINVAR_CLNHGVS=NC_000002.12:g.171868791A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26646;CLINVAR_GENEINFO=SLC25A12:8604;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1878583	GT:AD:DP:GQ:PL	1/1:0,17:17:51:612,51,0
chr2	171976274	rs73976541	T	C	820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.3;SOR=1.255;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=130;ANN=C|missense_variant|MODERATE|HAT1|HAT1|transcript|NM_003642.3|protein_coding|9/11|c.941T>C|p.Val314Ala|1017/1670|941/1260|314/419||,C|non_coding_transcript_exon_variant|MODIFIER|HAT1|HAT1|transcript|NR_027862.1|pseudogene|8/10|n.941T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4875;p3_1000G_AF=0.9734425;p3_1000G_AFR_AF=0.9047000000000001;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16583;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=172841213;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=1.0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:849,87,0
chr2	171999938	rs6730085	C	A	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.224;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-1.847;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6730085;dbSNPBuildID=116;ANN=A|5_prime_UTR_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_199227.2|protein_coding|1/10|c.-32C>A|||||32|,A|5_prime_UTR_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322278.1|protein_coding|1/10|c.-472C>A|||||65672|,A|5_prime_UTR_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322279.1|protein_coding|1/10|c.-436C>A|||||65672|,A|non_coding_transcript_exon_variant|MODIFIER|METAP1D|METAP1D|transcript|NR_136273.1|pseudogene|1/9|n.42C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|METAP1D|METAP1D|transcript|NR_136276.1|pseudogene|1/9|n.42C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1824;p3_1000G_AF=0.364217;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=11494;p3_1000G_EAS_AF=0.1657;p3_1000G_EUR_AF=0.5507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172864845;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,12:28:99:326,0,418
chr2	172000102	rs62183782	T	A	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.023;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.387;SOR=0.948;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62183782;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_199227.2|protein_coding|1/9|c.40+93T>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322278.1|protein_coding|1/9|c.-401+93T>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322279.1|protein_coding|1/9|c.-315+43T>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NR_136273.1|pseudogene|1/8|n.113+93T>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NR_136276.1|pseudogene|1/8|n.113+93T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1774;p3_1000G_AF=0.354233;p3_1000G_AFR_AF=0.1831;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=17001;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.5477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172865009;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,14:23:99:378,0,299
chr2	172061498	rs10497377	G	T	362.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.183;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=0.474;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10497377;dbSNPBuildID=119;ANN=T|missense_variant&splice_region_variant|MODERATE|METAP1D|METAP1D|transcript|NM_199227.2|protein_coding|2/10|c.41G>T|p.Gly14Val|114/3104|41/1008|14/335||,T|splice_region_variant|LOW|METAP1D|METAP1D|transcript|NM_001322278.1|protein_coding|2/10|c.-400G>T||||||,T|splice_region_variant|LOW|METAP1D|METAP1D|transcript|NM_001322279.1|protein_coding|2/10|c.-314G>T||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|METAP1D|METAP1D|transcript|NR_136273.1|pseudogene|2/9|n.114G>T||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|METAP1D|METAP1D|transcript|NR_136276.1|pseudogene|2/9|n.114G>T||||||,T|5_prime_UTR_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322278.1|protein_coding|2/10|c.-400G>T|||||4112|,T|5_prime_UTR_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322279.1|protein_coding|2/10|c.-314G>T|||||4112|;p3_1000G_AA=G|||;p3_1000G_AC=540;p3_1000G_AF=0.107827;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=17866;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.0089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172926226;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=51,4355;ESP6500_AA_AGE=50.2+/-85.5;ESP6500_AA_GTC=1,49,2153;ESP6500_CDS_SIZES=NM_199227.1:1008;ESP6500_CG=6.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=116;ESP6500_EA_AC=69,8531;ESP6500_EA_AGE=41.2+/-98.3;ESP6500_EA_GTC=0,69,4231;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_199227.1:missense-near-splice;ESP6500_GL=METAP1D;ESP6500_GRCh38_POSITION=2:172061498;ESP6500_GS=109;ESP6500_GTC=1,118,6384;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_199227.1:c.41G>T;ESP6500_HGVS_PROTEIN_VAR=NM_199227.1:p.(G14V);ESP6500_MAF=0.8023,1.1575,0.9227;ESP6500_PH=probably-damaging:0.965;ESP6500_TAC=120,12886	GT:AD:DP:GQ:PL	0/1:8,16:24:99:391,0,161
chr2	172065822	rs17615589	T	G	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.606;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.707;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17615589;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_199227.2|protein_coding|4/9|c.497+70T>G||||||,G|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322278.1|protein_coding|4/9|c.143+70T>G||||||,G|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322279.1|protein_coding|4/9|c.143+70T>G||||||,G|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NR_136273.1|pseudogene|3/8|n.508-442T>G||||||,G|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NR_136276.1|pseudogene|3/8|n.422-442T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=549;p3_1000G_AF=0.109625;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=20370;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172930550;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:185,0,322
chr2	172080020	rs58045367	G	A	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=-1.001;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58045367;dbSNPBuildID=129;ANN=A|sequence_feature|LOW|METAP1D|METAP1D|metal-binding-site:Divalent_metal_cation_2|NM_199227.2|protein_coding|8/9|c.851-108G>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_199227.2|protein_coding|8/9|c.851-108G>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322278.1|protein_coding|8/9|c.497-108G>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NM_001322279.1|protein_coding|8/9|c.497-108G>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NR_136273.1|pseudogene|7/8|n.861-108G>A||||||,A|intron_variant|MODIFIER|METAP1D|METAP1D|transcript|NR_136276.1|pseudogene|7/8|n.775-108G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=620;p3_1000G_AF=0.123802;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=16373;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0.173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172944748;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:62:215,0,62
chr2	172101522	rs2228184	T	C	859.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228184;dbSNPBuildID=98;ANN=C|synonymous_variant|LOW|DLX2|DLX2|transcript|NM_004405.3|protein_coding|2/3|c.525A>G|p.Gln175Gln|737/2304|525/987|175/328||,C|upstream_gene_variant|MODIFIER|DLX2-AS1|DLX2-AS1|transcript|NR_126376.1|pseudogene||n.-1484T>C|||||1484|;p3_1000G_AA=T|||;p3_1000G_AC=1797;p3_1000G_AF=0.358826;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.3098;p3_1000G_AN=5008;p3_1000G_DP=12417;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.3907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=172966250;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3988;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=682,3724;ESP6500_AA_AGE=269.5+/-269.1;ESP6500_AA_GTC=55,572,1576;ESP6500_CDS_SIZES=NM_004405.3:987;ESP6500_CG=-9.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=27;ESP6500_EA_AC=3404,5196;ESP6500_EA_AGE=469.8+/-367.7;ESP6500_EA_GTC=676,2052,1572;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004405.3:coding-synonymous;ESP6500_GL=DLX2;ESP6500_GRCh38_POSITION=2:172101522;ESP6500_GTC=731,2624,3148;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004405.3:c.525A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004405.3:p.(Q175);ESP6500_MAF=39.5814,15.4789,31.4163;ESP6500_TAC=4086,8920	GT:AD:DP:GQ:PL	1/1:0,28:28:84:888,84,0
chr2	172427981	rs6744873;332356	A	G	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6744873;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|1/24|c.182+11A>G||||||,G|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|1/25|c.-161+511A>G||||||,G|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|1/25|c.182+11A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2507;p3_1000G_AF=0.500599;p3_1000G_AFR_AF=0.5212;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=8148;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.2306;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173292709;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2098,2304;ESP6500_AA_GTC=522,1054,625;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=0.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=30;ESP6500_EA_AC=2073,6527;ESP6500_EA_GTC=263,1547,2490;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:intron,NM_000210.2:intron;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172427981;ESP6500_GTC=785,2601,3115;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.182+11A>G,NM_000210.2:c.182+11A>G;ESP6500_MAF=24.1047,47.6602,32.0797;ESP6500_TAC=4171,8831;CLINVAR_AF_ESP=0.3208;CLINVAR_AF_EXAC=0.35604;CLINVAR_ALLELEID=285264;CLINVAR_CLNDISDB=MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403;CLINVAR_CLNDN=Epidermolysis_bullosa_junctionalis_with_pyloric_atresia;CLINVAR_CLNHGVS=NC_000002.12:g.172427981A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:634487;CLINVAR_GENEINFO=ITGA6:3655;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6744873	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:172427981_A_G:1035,69,0
chr2	172427985	rs6716540;332357	C	T	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6716540;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|1/24|c.182+15C>T||||||,T|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|1/25|c.-161+515C>T||||||,T|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|1/25|c.182+15C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2449;p3_1000G_AF=0.489018;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=8066;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.2296;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173292713;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2079,2323;ESP6500_AA_GTC=514,1051,636;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=-2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=28;ESP6500_EA_AC=2048,6550;ESP6500_EA_GTC=258,1532,2509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:intron,NM_000210.2:intron;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172427985;ESP6500_GTC=772,2583,3145;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.182+15C>T,NM_000210.2:c.182+15C>T;ESP6500_MAF=23.8195,47.2285,31.7462;ESP6500_TAC=4127,8873;CLINVAR_AF_ESP=0.3175;CLINVAR_AF_EXAC=0.34629;CLINVAR_AF_TGP=0.4890;CLINVAR_ALLELEID=285266;CLINVAR_CLNDISDB=MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403;CLINVAR_CLNDN=Epidermolysis_bullosa_junctionalis_with_pyloric_atresia;CLINVAR_CLNHGVS=NC_000002.12:g.172427985C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:552485;CLINVAR_GENEINFO=ITGA6:3655;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6716540	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:172427981_A_G:1035,69,0
chr2	172428000	rs6731763	T	C	500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.82;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6731763;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|1/24|c.182+30T>C||||||,C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|1/25|c.-161+530T>C||||||,C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|1/25|c.182+30T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2501;p3_1000G_AF=0.499401;p3_1000G_AFR_AF=0.5197;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=7905;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.2326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173292728;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1983,2401;ESP6500_AA_GTC=484,1015,693;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=2.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=18;ESP6500_EA_AC=2001,6583;ESP6500_EA_GTC=255,1491,2546;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:intron,NM_000210.2:intron;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172428000;ESP6500_GTC=739,2506,3239;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.182+30T>C,NM_000210.2:c.182+30T>C;ESP6500_MAF=23.3108,45.2327,30.7218;ESP6500_TAC=3984,8984	GT:AD:DP:GQ:PL	1/1:0,18:18:54:529,54,0
chr2	172467387	rs2272499	G	A	1147.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=2.073;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272499;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|2/24|c.308-94G>A||||||,A|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|2/25|c.-35-94G>A||||||,A|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|2/25|c.308-94G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2865;p3_1000G_AF=0.572085;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=20733;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.2962;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173332115;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1176,114,0
chr2	172469433	rs147116420	T	TATGATTTAGTACC	321.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.74;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs147116420,rs3215376;dbSNPBuildID=134;ANN=TATGATTTAGTACC|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|4/24|c.643+65_643+66insCATGATTTAGTAC||||||INFO_REALIGN_3_PRIME,TATGATTTAGTACC|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|4/25|c.301+65_301+66insCATGATTTAGTAC||||||INFO_REALIGN_3_PRIME,TATGATTTAGTACC|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|4/25|c.643+65_643+66insCATGATTTAGTAC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3025;p3_1000G_AF=0.604034;p3_1000G_AFR_AF=0.6989;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=17828;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.2932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173334161;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:359,24,0
chr2	172472767	rs16860497	C	T	1267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16860497;dbSNPBuildID=123;ANN=T|splice_region_variant&intron_variant|LOW|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|4/25|c.302-7C>T||||||,T|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|5/24|c.776-1288C>T||||||,T|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|5/25|c.776-1288C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1354;p3_1000G_AF=0.270367;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=19295;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173337495;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=102,1650;ESP6500_AA_GTC=3,96,777;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=96;ESP6500_EA_AC=402,3580;ESP6500_EA_GTC=16,370,1605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:intron,NM_000210.2:intron;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172472767;ESP6500_GTC=19,466,2382;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.776-1288C>T,NM_000210.2:c.776-1288C>T;ESP6500_MAF=10.0954,5.8219,8.7897;ESP6500_TAC=504,5230	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1296,129,0
chr2	172475481	rs55867175	A	C	217.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.22;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55867175;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|7/24|c.1181-116A>C||||||,C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|7/25|c.824-116A>C||||||,C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|7/25|c.1181-116A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=431;p3_1000G_AF=0.0860623;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=17067;p3_1000G_EAS_AF=0.2579;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173340209;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:246,24,0
chr2	172479746	rs1920979;332365	A	G	1231.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=0.85;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1920979;dbSNPBuildID=92;ANN=G|splice_region_variant&intron_variant|LOW|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|10/24|c.1487+7A>G||||||,G|splice_region_variant&intron_variant|LOW|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|10/25|c.1130+7A>G||||||,G|splice_region_variant&intron_variant|LOW|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|10/25|c.1487+7A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2039;p3_1000G_AF=0.407149;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=16966;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.3111;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173344474;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2287,2119;ESP6500_AA_AGE=576.8+/-384.3;ESP6500_AA_GTC=582,1123,498;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=88;ESP6500_EA_AC=3021,5579;ESP6500_EA_AGE=663.5+/-402.1;ESP6500_EA_GTC=504,2013,1783;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:intron,NM_000210.2:intron;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172479746;ESP6500_GTC=1086,3136,2281;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.1487+7A>G,NM_000210.2:c.1487+7A>G;ESP6500_MAF=35.1279,48.0935,40.8119;ESP6500_TAC=5308,7698;CLINVAR_AF_ESP=0.4081;CLINVAR_AF_EXAC=0.37099;CLINVAR_AF_TGP=0.4072;CLINVAR_ALLELEID=283693;CLINVAR_CLNDISDB=MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403;CLINVAR_CLNDN=Epidermolysis_bullosa_junctionalis_with_pyloric_atresia;CLINVAR_CLNHGVS=NC_000002.12:g.172479746A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26660;CLINVAR_GENEINFO=ITGA6:3655;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1920979	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1260,117,0
chr2	172479952	rs2293647	A	C	1238.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2293647;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|10/24|c.1488-38A>C||||||,C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|10/25|c.1131-38A>C||||||,C|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|10/25|c.1488-38A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=368;p3_1000G_AF=0.0734824;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=20166;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.0368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173344680;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=51,4355;ESP6500_AA_AGE=50.9+/-86.3;ESP6500_AA_GTC=0,51,2152;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=114;ESP6500_EA_AC=478,8120;ESP6500_EA_AGE=136.8+/-193.9;ESP6500_EA_GTC=9,460,3830;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:intron,NM_000210.2:intron;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172479952;ESP6500_GTC=9,511,5982;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.1488-38A>C,NM_000210.2:c.1488-38A>C;ESP6500_MAF=5.5594,1.1575,4.068;ESP6500_TAC=529,12475	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1267,111,0
chr2	172487429	rs2293648;332371	A	T	3407.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=34.08;ReadPosRankSum=1.98;SOR=0.266;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2293648;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|15/25|c.2136A>T|p.Ala712Ala|2370/5713|2136/3276|712/1091||,T|synonymous_variant|LOW|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|15/26|c.1779A>T|p.Ala593Ala|2056/5529|1779/2865|593/954||,T|synonymous_variant|LOW|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|15/26|c.2136A>T|p.Ala712Ala|2370/5843|2136/3222|712/1073||;p3_1000G_AA=A|||;p3_1000G_AC=436;p3_1000G_AF=0.0870607;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=19898;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.0368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173352157;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=54,4352;ESP6500_AA_AGE=52.9+/-88.7;ESP6500_AA_GTC=0,54,2149;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=-11.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=479,8121;ESP6500_EA_AGE=139.2+/-195.9;ESP6500_EA_GTC=11,457,3832;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:coding-synonymous,NM_000210.2:coding-synonymous;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172487429;ESP6500_GTC=11,511,5981;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.2136A>T,NM_000210.2:c.2136A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001079818.1:p.(A712),NM_000210.2:p.(A712);ESP6500_MAF=5.5698,1.2256,4.0981;ESP6500_TAC=533,12473;CLINVAR_AF_ESP=0.0410;CLINVAR_AF_EXAC=0.07099;CLINVAR_AF_TGP=0.0871;CLINVAR_ALLELEID=283697;CLINVAR_CLNDISDB=MedGen:C1856934,OMIM:226730,Orphanet:ORPHA79403;CLINVAR_CLNDN=Epidermolysis_bullosa_junctionalis_with_pyloric_atresia;CLINVAR_CLNHGVS=NC_000002.12:g.172487429A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53914;CLINVAR_GENEINFO=ITGA6:3655;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2293648	GT:AD:DP:GQ:PL	1/1:1,99:100:99:3436,276,0
chr2	172488096	rs10930559	C	T	1489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10930559;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|18/24|c.2403-30C>T||||||,T|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|18/25|c.2046-30C>T||||||,T|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|18/25|c.2403-30C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=445;p3_1000G_AF=0.0888578;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=20253;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173352824;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=63,4343;ESP6500_AA_AGE=58.1+/-94.6;ESP6500_AA_GTC=0,63,2140;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=130;ESP6500_EA_AC=479,8121;ESP6500_EA_AGE=140.5+/-197.0;ESP6500_EA_GTC=11,457,3832;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:intron,NM_000210.2:intron;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172488096;ESP6500_GTC=11,520,5972;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.2403-30C>T,NM_000210.2:c.2403-30C>T;ESP6500_MAF=5.5698,1.4299,4.1673;ESP6500_TAC=542,12464	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1518,144,0
chr2	172488272	rs138348628;rs397781691;~rs34069971	A	AT	368.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=2.494;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs138348628;dbSNPBuildID=134,138;ANN=AT|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001079818.2|protein_coding|19/24|c.2505+45dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_001316306.1|protein_coding|19/25|c.2148+45dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|ITGA6|ITGA6|transcript|NM_000210.3|protein_coding|19/25|c.2505+45dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=590;p3_1000G_AF=0.117812;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=19833;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173353000;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0941;p3_1000G_VT=INDEL;ESP6500_AA_AC=410,3856;ESP6500_AA_GTC=27,356,1750;ESP6500_CDS_SIZES=NM_001079818.1:3276,NM_000210.2:3222;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=83;ESP6500_EA_AC=468,7782;ESP6500_EA_GTC=11,446,3668;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001079818.1:intron,NM_000210.2:intron;ESP6500_GL=ITGA6;ESP6500_GRCh38_POSITION=2:172488272;ESP6500_GTC=38,802,5418;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001079818.1:c.2505+44_2505+45insT,NM_000210.2:c.2505+44_2505+45insT;ESP6500_MAF=5.6727,9.6109,7.015;ESP6500_TAC=878,11638	GT:AD:DP:GQ:PL	1/1:0,11:11:33:406,33,0
chr2	172564146	rs6433368	C	T	982.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=1.839;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433368;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PDK1|PDK1|transcript|NM_001278549.1|protein_coding|4/11|c.471-357C>T||||||,T|intron_variant|MODIFIER|PDK1|PDK1|transcript|NR_103731.1|pseudogene|3/13|n.562-357C>T||||||,T|intron_variant|MODIFIER|PDK1|PDK1|transcript|NM_002610.4|protein_coding|3/10|c.411-357C>T||||||,T|intron_variant|MODIFIER|PDK1|PDK1|transcript|NR_103729.1|pseudogene|3/11|n.593-357C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1718;p3_1000G_AF=0.343051;p3_1000G_AFR_AF=0.5817;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=16541;p3_1000G_EAS_AF=0.3611;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173428874;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1011,93,0
chr2	172736055	rs34574292;~rs34574292	C	CG	597.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=0.804;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34574292;dbSNPBuildID=130;ANN=CG|intron_variant|MODIFIER|RAPGEF4-AS1|RAPGEF4-AS1|transcript|NR_026995.1|pseudogene|1/3|n.81+70dupC||||||,CG|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_007023.3|protein_coding|1/30|c.65+8dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=7498;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173600783;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=2297,9;ESP6500_AA_GTC=1147,3,3;ESP6500_CDS_SIZES=NM_007023.3:3036;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=5;ESP6500_EA_AC=5469,31;ESP6500_EA_GTC=2727,15,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007023.3:intron;ESP6500_GL=RAPGEF4;ESP6500_GRCh38_POSITION=2:172736055;ESP6500_GTC=3874,18,11;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_007023.3:c.65+7_65+8insG;ESP6500_MAF=0.5636,0.3903,0.5124;ESP6500_TAC=7766,40	GT:AD:DP:GQ:PL	1/1:0,17:17:51:635,51,0
chr2	172795185	rs7585729	T	C	1070.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7585729;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_007023.3|protein_coding|2/30|c.208+18T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4859;p3_1000G_AF=0.970248;p3_1000G_AFR_AF=0.8964;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=20287;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173659913;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3316,330;ESP6500_AA_GTC=1503,310,10;ESP6500_CDS_SIZES=NM_007023.3:3036;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=101;ESP6500_EA_AC=8148,4;ESP6500_EA_GTC=4072,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007023.3:intron;ESP6500_GL=RAPGEF4;ESP6500_GRCh38_POSITION=2:172795185;ESP6500_GTC=5575,314,10;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007023.3:c.208+18T>C;ESP6500_MAF=0.0491,9.051,2.831;ESP6500_TAC=11464,334	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1099,108,0
chr2	172996612	rs2290374	G	A	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.362;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.892;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.605;SOR=0.407;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290374;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_007023.3|protein_coding|16/30|c.1579+58G>A||||||,A|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001100397.1|protein_coding|13/27|c.1147+58G>A||||||,A|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282899.1|protein_coding|13/27|c.1120+58G>A||||||,A|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282900.1|protein_coding|12/26|c.1066+58G>A||||||,A|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282901.1|protein_coding|10/24|c.919+58G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2106;p3_1000G_AF=0.420527;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=20367;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.4036;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173861340;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=352,1032;ESP6500_AA_GTC=45,262,385;ESP6500_CDS_SIZES=NM_007023.3:3036,NM_001100397.1:2604;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=30;ESP6500_EA_AC=1238,1944;ESP6500_EA_GTC=255,728,608;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007023.3:intron,NM_001100397.1:intron;ESP6500_GL=RAPGEF4;ESP6500_GRCh38_POSITION=2:172996612;ESP6500_GTC=300,990,993;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007023.3:c.1579+58G>A,NM_001100397.1:c.1147+58G>A;ESP6500_MAF=38.9063,25.4335,34.8226;ESP6500_TAC=1590,2976	GT:AD:DP:GQ:PL	0/1:3,9:12:89:204,0,89
chr2	173001248	rs3214814	G	GT	408.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.398;SOR=0.656;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3214814;dbSNPBuildID=126;ANN=GT|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_007023.3|protein_coding|16/30|c.1580-11dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001100397.1|protein_coding|13/27|c.1148-11dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282899.1|protein_coding|13/27|c.1121-11dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282900.1|protein_coding|12/26|c.1067-11dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282901.1|protein_coding|10/24|c.920-11dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTTT|TTTTTTT|TTTTTTTT|insertion;p3_1000G_AC=1214;p3_1000G_AF=0.242412;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=19487;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.3211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173865976;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2362;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:15,17:32:99:446,0,358
chr2	173017622	rs2305461	A	G	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-0.967;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305461;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_007023.3|protein_coding|21/30|c.2008+118A>G||||||,G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001100397.1|protein_coding|18/27|c.1576+118A>G||||||,G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282899.1|protein_coding|18/27|c.1549+118A>G||||||,G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282900.1|protein_coding|17/26|c.1495+118A>G||||||,G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282901.1|protein_coding|15/24|c.1348+118A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=301;p3_1000G_AF=0.0601038;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=20890;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173882350;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:132,0,240
chr2	173018821	rs2242079	A	G	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.47;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.905;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.96;ReadPosRankSum=-1.622;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242079;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_007023.3|protein_coding|22/30|c.2155+19A>G||||||,G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001100397.1|protein_coding|19/27|c.1723+19A>G||||||,G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282899.1|protein_coding|19/27|c.1696+19A>G||||||,G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282900.1|protein_coding|18/26|c.1642+19A>G||||||,G|intron_variant|MODIFIER|RAPGEF4|RAPGEF4|transcript|NM_001282901.1|protein_coding|16/24|c.1495+19A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=303;p3_1000G_AF=0.0605032;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=19554;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.0676;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=173883549;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0429;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=69,4335;ESP6500_AA_AGE=61.1+/-98.1;ESP6500_AA_GTC=0,69,2133;ESP6500_CDS_SIZES=NM_007023.3:3036,NM_001100397.1:2604;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=71;ESP6500_EA_AC=601,7999;ESP6500_EA_AGE=157.3+/-211.0;ESP6500_EA_GTC=16,569,3715;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007023.3:intron,NM_001100397.1:intron;ESP6500_GL=RAPGEF4;ESP6500_GRCh38_POSITION=2:173018821;ESP6500_GTC=16,638,5848;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007023.3:c.2155+19A>G,NM_001100397.1:c.1723+19A>G;ESP6500_MAF=6.9884,1.5668,5.1523;ESP6500_TAC=670,12334	GT:AD:DP:GQ:PL	0/1:26,8:34:99:231,0,747
chr2	173203785	rs11899707	G	C	1208.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11899707;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|8/19|c.670-11G>C||||||,C|intron_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|7/7|n.1425+3762C>G||||||,C|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_133646.2|protein_coding|8/11|c.670-11G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4923;p3_1000G_AF=0.983027;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=17841;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174068513;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4214,192;ESP6500_AA_AGE=121.3+/-158.8;ESP6500_AA_GTC=2013,188,2;ESP6500_CDS_SIZES=NM_133646.2:1368,NM_016653.2:2403;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=134;ESP6500_EA_AC=8509,91;ESP6500_EA_AGE=52.3+/-112.8;ESP6500_EA_GTC=4209,91,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133646.2:intron,NM_016653.2:intron;ESP6500_GL=ZAK;ESP6500_GRCh38_POSITION=2:173203785;ESP6500_GTC=6222,279,2;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_133646.2:c.670-11G>C,NM_016653.2:c.670-11G>C;ESP6500_MAF=1.0581,4.3577,2.1759;ESP6500_TAC=12723,283	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1237,114,0
chr2	173209679	rs2289396	A	G	792.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.699;SOR=0.671;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289396;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|9/19|c.745-50A>G||||||,G|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_133646.2|protein_coding|9/11|c.745-50A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|6/8|n.1281T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2304;p3_1000G_AF=0.460064;p3_1000G_AFR_AF=0.3154;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=20388;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174074407;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1691,2715;ESP6500_AA_AGE=509.4+/-367.2;ESP6500_AA_GTC=305,1081,817;ESP6500_CDS_SIZES=NM_133646.2:1368,NM_016653.2:2403;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=5863,2737;ESP6500_EA_AGE=677.8+/-403.4;ESP6500_EA_GTC=2007,1849,444;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133646.2:intron,NM_016653.2:intron;ESP6500_GL=ZAK;ESP6500_GRCh38_POSITION=2:173209679;ESP6500_GTC=2312,2930,1261;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133646.2:c.745-50A>G,NM_016653.2:c.745-50A>G;ESP6500_MAF=31.8256,38.3795,41.9191;ESP6500_TAC=7554,5452	GT:AD:DP:GQ:PL	0/1:26,29:55:99:821,0,618
chr2	173221013	rs11690597	A	G	35.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11690597;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|11/19|c.987+3763A>G||||||,G|intron_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|2/7|n.464-5177T>C||||||,G|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_133646.2|protein_coding|11/11|c.988-137A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=934;p3_1000G_AF=0.186502;p3_1000G_AFR_AF=0.1142;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=17120;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174085741;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:26:64,0,26
chr2	173221557	rs74417392	C	T	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.702;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.273;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74417392;dbSNPBuildID=132;ANN=T|3_prime_UTR_variant|MODIFIER|ZAK|ZAK|transcript|NM_133646.2|protein_coding|12/12|c.*27C>T|||||27|,T|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|11/19|c.987+4307C>T||||||,T|intron_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|2/7|n.464-5721G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1105;p3_1000G_AF=0.220647;p3_1000G_AFR_AF=0.2398;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=20711;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174086285;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1027,3363;ESP6500_AA_GTC=127,773,1295;ESP6500_CDS_SIZES=NM_133646.2:1368,NM_016653.2:2403;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=10;ESP6500_EA_AC=1679,6883;ESP6500_EA_GTC=172,1335,2774;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133646.2:utr-3,NM_016653.2:intron;ESP6500_GL=ZAK;ESP6500_GRCh38_POSITION=2:173221557;ESP6500_GTC=299,2108,4069;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133646.2:c.*27C>T,NM_016653.2:c.987+4307C>T;ESP6500_MAF=19.6099,23.3941,20.8925;ESP6500_TAC=2706,10246	GT:AD:DP:GQ:PL	0/1:25,20:45:99:480,0,722
chr2	173232288	rs112549081	A	AT	441.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=4.237;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.179;SOR=1.256;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112549081;dbSNPBuildID=132;ANN=AT|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|13/19|c.1064-28dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|2/7|n.464-16453dupA||||||;p3_1000G_AA=tTTT|TTTT|TTTTT|insertion;p3_1000G_AC=175;p3_1000G_AF=0.0349441;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=20019;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174097016;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0542;p3_1000G_VT=INDEL;ESP6500_AA_AC=238,3378;ESP6500_AA_GTC=19,200,1589;ESP6500_CDS_SIZES=NM_016653.2:2403;ESP6500_CG=5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=163;ESP6500_EA_AC=99,7769;ESP6500_EA_GTC=0,99,3835;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016653.2:intron;ESP6500_GL=ZAK;ESP6500_GRCh38_POSITION=2:173232288;ESP6500_GTC=19,299,5424;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_016653.2:c.1064-32_1064-31insT;ESP6500_MAF=1.2583,6.5819,2.9345;ESP6500_TAC=337,11147	GT:AD:DP:GQ:PL	0/1:27,19:46:99:479,0,744
chr2	173258671	rs820008	A	G	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.31;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.218;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.453;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs820008;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|16/19|c.1360-28A>G||||||,G|intron_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|2/7|n.463+12840T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3525;p3_1000G_AF=0.703874;p3_1000G_AFR_AF=0.7179;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=17158;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174123399;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2621,969;ESP6500_AA_GTC=960,701,134;ESP6500_CDS_SIZES=NM_016653.2:2403;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=40;ESP6500_EA_AC=6075,2051;ESP6500_EA_GTC=2262,1551,250;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016653.2:intron;ESP6500_GL=ZAK;ESP6500_GRCh38_POSITION=2:173258671;ESP6500_GTC=3222,2252,384;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016653.2:c.1360-28A>G;ESP6500_MAF=25.24,26.9916,25.7767;ESP6500_TAC=8696,3020	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,6:17:99:0|1:173258671_A_G:261,0,1089
chr2	173258680	rs150855284	ATTTTGT	A	223.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.637;SOR=1.755;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs150855284;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|16/19|c.1360-14_1360-9delGTTTTT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|2/7|n.463+12825_463+12830delACAAAA||||||;p3_1000G_AC=668;p3_1000G_AF=0.133387;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=18219;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.0328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174123408;p3_1000G_GRCH37_REF=ATTTTGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,7:18:99:0|1:173258671_A_G:261,0,1147
chr2	173258904	rs368367545	C	G	240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.493;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.08;ReadPosRankSum=1.11;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368367545;dbSNPBuildID=138;ANN=G|intron_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|17/19|c.1476+89C>G||||||,G|intron_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|2/7|n.463+12607G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16019;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174123632;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,8:10:53:269,0,53
chr2	173266797	rs111588144	A	G	161.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.11;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs111588144;dbSNPBuildID=132;ANN=G|3_prime_UTR_variant|MODIFIER|ZAK|ZAK|transcript|NM_016653.2|protein_coding|20/20|c.*47A>G|||||47|,G|intron_variant|MODIFIER|MLK7-AS1|MLK7-AS1|transcript|NR_033882.1|pseudogene|2/7|n.463+4714T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=488;p3_1000G_AF=0.0974441;p3_1000G_AFR_AF=0.0582;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=18452;p3_1000G_EAS_AF=0.1111;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174131525;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=110,3076;ESP6500_AA_GTC=4,102,1487;ESP6500_CDS_SIZES=NM_016653.2:2403;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=5;ESP6500_EA_AC=445,6595;ESP6500_EA_GTC=28,389,3103;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016653.2:utr-3;ESP6500_GL=ZAK;ESP6500_GRCh38_POSITION=2:173266797;ESP6500_GTC=32,491,4590;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016653.2:c.*47A>G;ESP6500_MAF=6.321,3.4526,5.4273;ESP6500_TAC=555,9671	GT:AD:DP:GQ:PL	1/1:0,7:7:21:190,21,0
chr2	173355045	rs28362634	G	C	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.08;ReadPosRankSum=-0.674;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28362634;dbSNPBuildID=125;ANN=C|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_031942.4|protein_coding|1/9|c.21+61G>C||||||,C|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_145810.2|protein_coding|1/8|c.21+61G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=303;p3_1000G_AF=0.0605032;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=9891;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.0517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174219773;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:69:69,0,142
chr2	173363690	rs4972555	C	T	645.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4972555;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_031942.4|protein_coding|4/9|c.622-128C>T||||||,T|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_145810.2|protein_coding|3/8|c.385-128C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4289;p3_1000G_AF=0.85643;p3_1000G_AFR_AF=0.7655;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=16865;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174228418;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:674,57,0
chr2	173364016	rs1529887	T	C	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=0.921;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1529887;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_031942.4|protein_coding|5/9|c.699+121T>C||||||,C|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_145810.2|protein_coding|4/8|c.462+121T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1970;p3_1000G_AF=0.393371;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=17475;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174228744;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:64:64,0,147
chr2	173365003	rs13382180	A	G	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.719;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.303;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13382180;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_031942.4|protein_coding|6/9|c.894+14A>G||||||,G|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_145810.2|protein_coding|5/8|c.657+14A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1051;p3_1000G_AF=0.209864;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=20741;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174229731;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=922,3474;ESP6500_AA_GTC=93,736,1369;ESP6500_CDS_SIZES=NM_145810.2:1116,NM_031942.4:1353;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=49;ESP6500_EA_AC=303,8279;ESP6500_EA_GTC=6,291,3994;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145810.2:intron,NM_031942.4:intron;ESP6500_GL=CDCA7;ESP6500_GRCh38_POSITION=2:173365003;ESP6500_GTC=99,1027,5363;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145810.2:c.657+14A>G,NM_031942.4:c.894+14A>G;ESP6500_MAF=3.5306,20.9736,9.4391;ESP6500_TAC=1225,11753	GT:AD:DP:GQ:PL	0/1:5,5:10:99:135,0,130
chr2	173365382	rs2288994	T	G	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=0.253;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288994;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_031942.4|protein_coding|6/9|c.895-70T>G||||||,G|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_145810.2|protein_coding|5/8|c.658-70T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=32;p3_1000G_AF=0.00638978;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19688;p3_1000G_EAS_AF=0.0317;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174230110;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:68:68,0,127
chr2	173365425	rs2288993	C	G	495.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288993;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_031942.4|protein_coding|6/9|c.895-27C>G||||||,G|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_145810.2|protein_coding|5/8|c.658-27C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4380;p3_1000G_AF=0.874601;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.83;p3_1000G_AN=5008;p3_1000G_DP=20055;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8549;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174230153;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8834;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3655,751;ESP6500_AA_AGE=743.3+/-411.4;ESP6500_AA_GTC=1531,593,79;ESP6500_CDS_SIZES=NM_145810.2:1116,NM_031942.4:1353;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=7286,1314;ESP6500_EA_AGE=755.7+/-407.5;ESP6500_EA_GTC=3077,1132,91;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145810.2:intron,NM_031942.4:intron;ESP6500_GL=CDCA7;ESP6500_GRCh38_POSITION=2:173365425;ESP6500_GTC=4608,1725,170;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_145810.2:c.658-27C>G,NM_031942.4:c.895-27C>G;ESP6500_MAF=15.2791,17.0449,15.8773;ESP6500_TAC=10941,2065	GT:AD:DP:GQ:PL	1/1:0,13:13:39:524,39,0
chr2	173366255	rs35959156	G	GT	1209.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.13;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35959156;dbSNPBuildID=137;ANN=GT|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_031942.4|protein_coding|7/9|c.1036-20dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_145810.2|protein_coding|6/8|c.799-20dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4284;p3_1000G_AF=0.855431;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=20187;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174230983;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8834;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1247,129,0
chr2	173367348	rs3816061	G	A	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.093;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=1.44;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816061;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_031942.4|protein_coding|9/9|c.1322+62G>A||||||,A|intron_variant|MODIFIER|CDCA7|CDCA7|transcript|NM_145810.2|protein_coding|8/8|c.1085+62G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1855;p3_1000G_AF=0.370407;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=18036;p3_1000G_EAS_AF=0.3026;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174232076;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,12:27:99:270,0,450
chr2	173956022	rs1047640	T	C	2008.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=0.754;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1047640;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|SP3|SP3|transcript|NM_003111.4|protein_coding|4/7|c.490A>G|p.Thr164Ala|1021/6359|490/2346|164/781||,C|missense_variant|MODERATE|SP3|SP3|transcript|NM_001017371.4|protein_coding|2/5|c.286A>G|p.Thr96Ala|670/6008|286/2142|96/713||WARNING_TRANSCRIPT_NO_START_CODON,C|missense_variant|MODERATE|SP3|SP3|transcript|NM_001172712.1|protein_coding|4/7|c.481A>G|p.Thr161Ala|1012/6350|481/2337|161/778||;p3_1000G_AA=T|||;p3_1000G_AC=645;p3_1000G_AF=0.128794;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=20313;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174820750;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=115,4291;ESP6500_AA_AGE=89.2+/-127.9;ESP6500_AA_GTC=0,115,2088;ESP6500_CDS_SIZES=NM_003111.4:2346,NM_001172712.1:2337,NM_001017371.4:2142;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=220;ESP6500_EA_AC=1029,7571;ESP6500_EA_AGE=219.4+/-257.5;ESP6500_EA_GTC=73,883,3344;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003111.4:missense,NM_001172712.1:missense,NM_001017371.4:missense;ESP6500_GL=SP3;ESP6500_GRCh38_POSITION=2:173956022;ESP6500_GS=58,58,58;ESP6500_GTC=73,998,5432;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003111.4:c.490A>G,NM_001172712.1:c.481A>G,NM_001017371.4:c.286A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003111.4:p.(T164A),NM_001172712.1:p.(T161A),NM_001017371.4:p.(T96A);ESP6500_MAF=11.9651,2.6101,8.7959;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=1144,11862	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2037,198,0
chr2	174079148	rs3754812	C	T	426.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3754812;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|OLA1|OLA1|transcript|NM_013341.4|protein_coding|9/10|c.967-58G>A||||||,T|intron_variant|MODIFIER|OLA1|OLA1|transcript|NM_001011708.2|protein_coding|8/9|c.493-58G>A||||||,T|intron_variant|MODIFIER|OLA1|OLA1|transcript|NM_001328688.1|protein_coding|9/10|c.904-58G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2242;p3_1000G_AF=0.447684;p3_1000G_AFR_AF=0.261;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=18023;p3_1000G_EAS_AF=0.9375;p3_1000G_EUR_AF=0.2266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174943876;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:455,39,0
chr2	174081385	rs12466894	G	T	350.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12466894;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|OLA1|OLA1|transcript|NM_013341.4|protein_coding|8/10|c.870-137C>A||||||,T|intron_variant|MODIFIER|OLA1|OLA1|transcript|NM_001011708.2|protein_coding|7/9|c.396-137C>A||||||,T|intron_variant|MODIFIER|OLA1|OLA1|transcript|NM_001328688.1|protein_coding|8/10|c.807-137C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2203;p3_1000G_AF=0.439896;p3_1000G_AFR_AF=0.2345;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=17233;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=174946113;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:379,36,0
chr2	174335167	rs3856434	G	A	1055.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.07;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3856434;dbSNPBuildID=108;ANN=A|downstream_gene_variant|MODIFIER|LINC01305|LINC01305|transcript|NR_038897.1|pseudogene||n.*4525G>A|||||4525|,A|intron_variant|MODIFIER|SP9|SP9|transcript|NM_001145250.1|protein_coding|1/1|c.21+54G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1509;p3_1000G_AF=0.301318;p3_1000G_AFR_AF=0.6241;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=14575;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.2147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175199895;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1084,117,0
chr2	174337446	rs778817750	GGGCGGCGGCAGCGGC	G	716.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=1.061;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|disruptive_inframe_deletion|MODERATE|SP9|SP9|transcript|NM_001145250.1|protein_coding|2/2|c.1386_1400delAGCGGCGGCGGCGGC|p.Ala463_Ala467del|1386/1455|1386/1455|462/484||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,17:17:53:754,53,0
chr2	174399899	rs142446022;rs796770136	CTTTT	C	639.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs142446022;dbSNPBuildID=146,134;ANN=C|splice_region_variant&intron_variant|LOW|SCRN3|SCRN3|transcript|NM_024583.4|protein_coding|2/7|c.160-8_160-5delTTTT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|SCRN3|SCRN3|transcript|NM_001193528.1|protein_coding|2/7|c.139-8_139-5delTTTT||||||INFO_REALIGN_3_PRIME,C|upstream_gene_variant|MODIFIER|CIR1|CIR1|transcript|NM_004882.3|protein_coding||c.-4281_-4278delAAAA|||||4185|;p3_1000G_AC=1043;p3_1000G_AF=0.208267;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=16090;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175264627;p3_1000G_GRCH37_REF=CTTTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,16:16:48:677,48,0
chr2	174400886	rs13017310	G	A	131.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13017310;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|SCRN3|SCRN3|transcript|NM_024583.4|protein_coding|3/7|c.342-104G>A||||||,A|intron_variant|MODIFIER|SCRN3|SCRN3|transcript|NM_001193528.1|protein_coding|3/7|c.321-104G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=808;p3_1000G_AF=0.161342;p3_1000G_AFR_AF=0.0613;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=16158;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.2813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175265614;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:159,12,0
chr2	174400938	rs13016842	A	G	107.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13016842;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SCRN3|SCRN3|transcript|NM_024583.4|protein_coding|3/7|c.342-52A>G||||||,G|intron_variant|MODIFIER|SCRN3|SCRN3|transcript|NM_001193528.1|protein_coding|3/7|c.321-52A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=877;p3_1000G_AF=0.17512;p3_1000G_AFR_AF=0.1082;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=14828;p3_1000G_EAS_AF=0.2153;p3_1000G_EUR_AF=0.2813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175265666;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=160,1398;ESP6500_AA_GTC=16,128,635;ESP6500_CDS_SIZES=NM_024583.4:1275,NM_001193528.1:1254;ESP6500_CG=4.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=3;ESP6500_EA_AC=730,2656;ESP6500_EA_GTC=90,550,1053;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024583.4:intron,NM_001193528.1:intron;ESP6500_GL=SCRN3;ESP6500_GRCh38_POSITION=2:174400938;ESP6500_GTC=106,678,1688;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024583.4:c.342-52A>G,NM_001193528.1:c.321-52A>G;ESP6500_MAF=21.5594,10.2696,18.0016;ESP6500_TAC=890,4054	GT:AD:DP:GQ:PL	1/1:0,4:4:12:135,12,0
chr2	174404035	rs2358672	A	G	232.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.74;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2358672;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SCRN3|SCRN3|transcript|NM_024583.4|protein_coding|4/7|c.542-68A>G||||||,G|intron_variant|MODIFIER|SCRN3|SCRN3|transcript|NM_001193528.1|protein_coding|4/7|c.521-68A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=808;p3_1000G_AF=0.161342;p3_1000G_AFR_AF=0.0613;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=17786;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.2813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175268763;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:261,18,0
chr2	174423050	rs2290158	G	A	791.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.32;SOR=1.302;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290158;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|SCRN3|SCRN3|transcript|NM_024583.4|protein_coding|6/7|c.917+3G>A||||||,A|splice_region_variant&intron_variant|LOW|SCRN3|SCRN3|transcript|NM_001193528.1|protein_coding|6/7|c.896+3G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=804;p3_1000G_AF=0.160543;p3_1000G_AFR_AF=0.0613;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=16565;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.2813;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175287778;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=346,4060;ESP6500_AA_AGE=174.1+/-203.8;ESP6500_AA_GTC=14,318,1871;ESP6500_CDS_SIZES=NM_024583.4:1275,NM_001193528.1:1254;ESP6500_CG=-4.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=63;ESP6500_EA_AC=2220,6380;ESP6500_EA_AGE=372.7+/-336.7;ESP6500_EA_GTC=280,1660,2360;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024583.4:intron,NM_001193528.1:intron;ESP6500_GL=SCRN3;ESP6500_GRCh38_POSITION=2:174423050;ESP6500_GTC=294,1978,4231;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024583.4:c.917+3G>A,NM_001193528.1:c.896+3G>A;ESP6500_MAF=25.814,7.8529,19.7294;ESP6500_TAC=2566,10440	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:174423041_C_A:820,81,0
chr2	174424416	rs3739150	C	A	314.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3739150;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SCRN3|SCRN3|transcript|NM_024583.4|protein_coding|6/7|c.918-59C>A||||||,A|intron_variant|MODIFIER|SCRN3|SCRN3|transcript|NM_001193528.1|protein_coding|6/7|c.897-59C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1072;p3_1000G_AF=0.214058;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=19688;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.3827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175289144;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:343,27,0
chr2	174427852	rs145699077	TTCAAATTTATCAG	T	1572.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs145699077;dbSNPBuildID=134;ANN=T|frameshift_variant|HIGH|SCRN3|SCRN3|transcript|NM_024583.4|protein_coding|8/8|c.1251_1263delTTTATCAGTCAAA|p.Asn417fs|1349/3053|1251/1275|417/424||INFO_REALIGN_3_PRIME,T|frameshift_variant|HIGH|SCRN3|SCRN3|transcript|NM_001193528.1|protein_coding|8/8|c.1230_1242delTTTATCAGTCAAA|p.Asn410fs|1258/2962|1230/1254|410/417||INFO_REALIGN_3_PRIME,T|downstream_gene_variant|MODIFIER|GPR155|GPR155|transcript|NM_001033045.3|protein_coding||c.*8251_*8263delCTGATAAATTTGA|||||3719|,T|downstream_gene_variant|MODIFIER|GPR155|GPR155|transcript|NM_001267050.1|protein_coding||c.*8251_*8263delCTGATAAATTTGA|||||3719|,T|downstream_gene_variant|MODIFIER|GPR155|GPR155|transcript|NM_001267051.1|protein_coding||c.*8251_*8263delCTGATAAATTTGA|||||3719|,T|downstream_gene_variant|MODIFIER|GPR155|GPR155|transcript|NM_152529.6|protein_coding||c.*8251_*8263delCTGATAAATTTGA|||||3719|;p3_1000G_AC=1062;p3_1000G_AF=0.212061;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=19634;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.3817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175292580;p3_1000G_GRCH37_REF=TTCAAATTTATCAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=INDEL;ESP6500_AA_AC=515,3749;ESP6500_AA_GTC=33,449,1650;ESP6500_CDS_SIZES=NM_024583.4:1275,NM_001193528.1:1254;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=72;ESP6500_EA_AC=2708,5524;ESP6500_EA_GTC=474,1760,1882;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024583.4:frameshift,NM_001193528.1:frameshift;ESP6500_GL=SCRN3;ESP6500_GRCh38_POSITION=2:174427852;ESP6500_GTC=507,2209,3532;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024583.4:c.1233_1245del13,NM_001193528.1:c.1212_1224del13;ESP6500_HGVS_PROTEIN_VAR=NM_024583.4:p.(N417Kfs*11),NM_001193528.1:p.(N410Kfs*11);ESP6500_MAF=32.896,12.0779,25.7923;ESP6500_TAC=3223,9273	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1610,110,0
chr2	174436269	rs6757461	G	A	2762.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=0.929;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6757461;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|GPR155|GPR155|transcript|NM_001033045.3|protein_coding|17/17|c.2460C>T|p.Asn820Asn|2856/7553|2460/2613|820/870||,A|synonymous_variant|LOW|GPR155|GPR155|transcript|NM_001267050.1|protein_coding|17/17|c.2460C>T|p.Asn820Asn|2753/7450|2460/2613|820/870||,A|synonymous_variant|LOW|GPR155|GPR155|transcript|NM_001267051.1|protein_coding|15/15|c.2376C>T|p.Asn792Asn|2623/7320|2376/2529|792/842||,A|synonymous_variant|LOW|GPR155|GPR155|transcript|NM_152529.6|protein_coding|16/16|c.2460C>T|p.Asn820Asn|2707/7404|2460/2613|820/870||;p3_1000G_AA=G|||;p3_1000G_AC=1070;p3_1000G_AF=0.213658;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=20403;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.3827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175300997;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=544,3862;ESP6500_AA_AGE=247.2+/-255.5;ESP6500_AA_GTC=37,470,1696;ESP6500_CDS_SIZES=NM_152529.6:2613,NM_001267051.1:2529,NM_001267050.1:2613,NM_001033045.3:2613;ESP6500_CG=-2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=161;ESP6500_EA_AC=2944,5656;ESP6500_EA_AGE=459.0+/-364.8;ESP6500_EA_GTC=521,1902,1877;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152529.6:coding-synonymous,NM_001267051.1:coding-synonymous,NM_001267050.1:coding-synonymous,NM_001033045.3:coding-synonymous;ESP6500_GL=GPR155;ESP6500_GRCh38_POSITION=2:174436269;ESP6500_GTC=558,2372,3573;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152529.6:c.2460C>T,NM_001267051.1:c.2376C>T,NM_001267050.1:c.2460C>T,NM_001033045.3:c.2460C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152529.6:p.(N820),NM_001267051.1:p.(N792),NM_001267050.1:p.(N820),NM_001033045.3:p.(N820);ESP6500_MAF=34.2326,12.3468,26.8184;ESP6500_TAC=3488,9518	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2791,276,0
chr2	174445301	rs10168192	C	G	55.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10168192;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001033045.3|protein_coding|13/16|c.2014-125G>C||||||,G|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001267050.1|protein_coding|13/16|c.2014-125G>C||||||,G|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001267051.1|protein_coding|11/14|c.1930-125G>C||||||,G|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_152529.6|protein_coding|12/15|c.2014-125G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3687;p3_1000G_AF=0.736222;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=19168;p3_1000G_EAS_AF=0.9613;p3_1000G_EUR_AF=0.6153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175310029;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0
chr2	174465765	rs16862584	C	T	379.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.13;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16862584;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001033045.3|protein_coding|8/16|c.1384+20G>A||||||,T|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001267050.1|protein_coding|8/16|c.1384+20G>A||||||,T|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001267051.1|protein_coding|6/14|c.1300+20G>A||||||,T|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_152529.6|protein_coding|7/15|c.1384+20G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=139;p3_1000G_AF=0.0277556;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16693;p3_1000G_EAS_AF=0.0923;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175330493;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3,4403;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,3,2200;ESP6500_CDS_SIZES=NM_152529.6:2613,NM_001267051.1:2529,NM_001267050.1:2613,NM_001033045.3:2613;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=45;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152529.6:intron,NM_001267051.1:intron,NM_001267050.1:intron,NM_001033045.3:intron;ESP6500_GL=GPR155;ESP6500_GRCh38_POSITION=2:174465765;ESP6500_GTC=0,5,6498;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152529.6:c.1384+20G>A,NM_001267051.1:c.1300+20G>A,NM_001267050.1:c.1384+20G>A,NM_001033045.3:c.1384+20G>A;ESP6500_MAF=0.0233,0.0681,0.0384;ESP6500_TAC=5,13001	GT:AD:DP:GQ:PL	1/1:0,14:14:42:408,42,0
chr2	174470348	rs2358637	G	T	446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2358637;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001033045.3|protein_coding|5/16|c.1026+42C>A||||||,T|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001267050.1|protein_coding|5/16|c.1026+42C>A||||||,T|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_001267051.1|protein_coding|4/14|c.1026+42C>A||||||,T|intron_variant|MODIFIER|GPR155|GPR155|transcript|NM_152529.6|protein_coding|4/15|c.1026+42C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4980;p3_1000G_AF=0.994409;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16029;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175335076;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4332,60;ESP6500_AA_GTC=2136,60,0;ESP6500_CDS_SIZES=NM_152529.6:2613,NM_001267051.1:2529,NM_001267050.1:2613,NM_001033045.3:2613;ESP6500_CG=4.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=17;ESP6500_EA_AC=8589,1;ESP6500_EA_GTC=4294,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152529.6:intron,NM_001267051.1:intron,NM_001267050.1:intron,NM_001033045.3:intron;ESP6500_GL=GPR155;ESP6500_GRCh38_POSITION=2:174470348;ESP6500_GTC=6430,61,0;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_152529.6:c.1026+42C>A,NM_001267051.1:c.1026+42C>A,NM_001267050.1:c.1026+42C>A,NM_001033045.3:c.1026+42C>A;ESP6500_MAF=0.0116,1.3661,0.4699;ESP6500_TAC=12921,61	GT:AD:DP:GQ:PL	1/1:0,15:15:45:475,45,0
chr2	174566979	rs2163236	C	G	365.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.25;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2163236;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|WIPF1|WIPF1|transcript|NM_001077269.1|protein_coding|7/7|c.1456+91G>C||||||,G|intron_variant|MODIFIER|WIPF1|WIPF1|transcript|NM_003387.4|protein_coding|7/7|c.1456+91G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2646;p3_1000G_AF=0.528355;p3_1000G_AFR_AF=0.2874;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=17394;p3_1000G_EAS_AF=0.8492;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175431707;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:394,33,0
chr2	174572212	rs4972450;403608	G	A	868.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.96;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4972450;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|WIPF1|WIPF1|transcript|NM_001077269.1|protein_coding|5/8|c.593C>T|p.Pro198Leu|757/4649|593/1512|198/503||,A|missense_variant|MODERATE|WIPF1|WIPF1|transcript|NM_003387.4|protein_coding|5/8|c.593C>T|p.Pro198Leu|693/4585|593/1512|198/503||;p3_1000G_AA=A|||;p3_1000G_AC=4547;p3_1000G_AF=0.907947;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=15459;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.9503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175436940;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8712;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3757,645;ESP6500_AA_GTC=1609,539,53;ESP6500_CDS_SIZES=NM_003387.4:1512,NM_001077269.1:1512;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=56;ESP6500_EA_AC=8242,356;ESP6500_EA_GTC=3950,342,7;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003387.4:missense,NM_001077269.1:missense;ESP6500_GL=WIPF1;ESP6500_GRCh38_POSITION=2:174572212;ESP6500_GS=98,98;ESP6500_GTC=5559,881,60;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003387.4:c.593C>T,NM_001077269.1:c.593C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003387.4:p.(P198L),NM_001077269.1:p.(P198L);ESP6500_MAF=4.1405,14.6524,7.7;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=11999,1001;CLINVAR_ALLELEID=389462;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.174572212G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=WIPF1:7456;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4972450	GT:AD:DP:GQ:PL	1/1:0,30:30:90:897,90,0
chr2	174574784	rs1367218	T	C	220.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1367218;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|WIPF1|WIPF1|transcript|NM_001077269.1|protein_coding|4/7|c.358+420A>G||||||,C|intron_variant|MODIFIER|WIPF1|WIPF1|transcript|NM_003387.4|protein_coding|4/7|c.358+420A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4677;p3_1000G_AF=0.933906;p3_1000G_AFR_AF=0.8828;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=17834;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175439512;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8814;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:249,18,0
chr2	174574808	rs12624277	G	A	261.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.18;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12624277;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|WIPF1|WIPF1|transcript|NM_001077269.1|protein_coding|4/7|c.358+396C>T||||||,A|intron_variant|MODIFIER|WIPF1|WIPF1|transcript|NM_003387.4|protein_coding|4/7|c.358+396C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2737;p3_1000G_AF=0.546526;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=17226;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.5318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175439536;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:290,30,0
chr2	174574953	rs1330875649;rs3049897;rs5836466	T	TA	144.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.68;SOR=0.941;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3049897,rs5836466;dbSNPBuildID=151,137,102;ANN=TA|intron_variant|MODIFIER|WIPF1|WIPF1|transcript|NM_001077269.1|protein_coding|4/7|c.358+250dupT||||||,TA|intron_variant|MODIFIER|WIPF1|WIPF1|transcript|NM_003387.4|protein_coding|4/7|c.358+250dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2550;p3_1000G_AF=0.509185;p3_1000G_AFR_AF=0.4327;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=15061;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.498;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175439681;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:182,21,0
chr2	174720251	rs13020091	C	G	114.03	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=31.79;QD=28.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13020091;dbSNPBuildID=121;ANN=G|non_coding_transcript_exon_variant|MODIFIER|H3F3AP4|H3F3AP4.2|transcript|NR_002315.1.2|pseudogene|1/1|n.452C>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=2155;p3_1000G_AF=0.430312;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=19569;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.5437;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175584979;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5429;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:142,12,0
chr2	174748331	rs3816448	A	C	468.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816448;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_001039523.2|protein_coding|9/9|c.1318-76T>G||||||,C|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_000079.3|protein_coding|8/8|c.1243-76T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1836;p3_1000G_AF=0.366613;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=19855;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.3588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175613059;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:497,39,0
chr2	174748872	rs2646159	T	C	138.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2646159;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_001039523.2|protein_coding|8/9|c.1078-53A>G||||||,C|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_000079.3|protein_coding|7/8|c.1003-53A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4423;p3_1000G_AF=0.883187;p3_1000G_AFR_AF=0.6543;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=18889;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175613600;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:166,12,0
chr2	174750180	rs773734065	CAAA	C	1049.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.86;SOR=3.056;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_001039523.2|protein_coding|7/9|c.854-14_854-12delTTT||||||,C|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_000079.3|protein_coding|6/8|c.779-14_779-12delTTT||||||	GT:AD:DP:GQ:PL	1/0:0,10:10:99:1087,542,466
chr2	174750180	.	CAAA	CA	1049.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.86;SOR=3.056;DEL;HET;VARTYPE=DEL;ANN=CA|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_001039523.2|protein_coding|7/9|c.854-14_854-13delTT||||||,CA|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_000079.3|protein_coding|6/8|c.779-14_779-13delTT||||||	GT:AD:DP:GQ:PL	0/1:0,21:21:99:1087,241,148
chr2	174758060	rs2646164;257237	G	A	1160.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2646164;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_001039523.2|protein_coding|3/9|c.235-40C>T||||||,A|intron_variant|MODIFIER|CHRNA1|CHRNA1|transcript|NM_000079.3|protein_coding|3/8|c.235-385C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20842;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175622788;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4376,28;ESP6500_AA_AGE=34.3+/-65.2;ESP6500_AA_GTC=2174,28,0;ESP6500_CDS_SIZES=NM_001039523.2:1449,NM_000079.3:1374;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039523.2:intron,NM_000079.3:intron;ESP6500_GL=CHRNA1;ESP6500_GRCh38_POSITION=2:174758060;ESP6500_GTC=6473,29,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039523.2:c.235-40C>T,NM_000079.3:c.235-385C>T;ESP6500_MAF=0.0116,0.6358,0.223;ESP6500_TAC=12975,29;CLINVAR_ALLELEID=250401;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.174758060G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CHRNA1:1134;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2646164	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1189,114,0
chr2	174812294	rs12613075;332464	C	T	1418.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=1.814;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12613075;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CHN1|CHN1|transcript|NM_001822.5|protein_coding|9/12|c.886+15G>A||||||,T|intron_variant|MODIFIER|CHN1|CHN1|transcript|NM_001206602.1|protein_coding|3/6|c.511+15G>A||||||,T|intron_variant|MODIFIER|CHN1|CHN1|transcript|NM_001025201.3|protein_coding|9/12|c.808+15G>A||||||,T|intron_variant|MODIFIER|CHN1|CHN1|transcript|NR_038133.1|pseudogene|8/11|n.752+15G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1687;p3_1000G_AF=0.336861;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=17716;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.4791;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=175677022;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=447,3649;ESP6500_AA_GTC=26,395,1627;ESP6500_CDS_SIZES=NM_001822.5:1380,NM_001206602.1:1005,NM_001025201.3:1302;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=163;ESP6500_EA_AC=4037,4337;ESP6500_EA_GTC=964,2109,1114;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001822.5:intron,NM_001206602.1:intron,NM_001025201.3:intron;ESP6500_GL=CHN1;ESP6500_GRCh38_POSITION=2:174812294;ESP6500_GTC=990,2504,2741;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001822.5:c.886+15G>A,NM_001206602.1:c.511+15G>A,NM_001025201.3:c.808+15G>A;ESP6500_MAF=48.2087,10.9131,35.9583;ESP6500_TAC=4484,7986;CLINVAR_AF_ESP=0.3596;CLINVAR_AF_EXAC=0.43354;CLINVAR_AF_TGP=0.3369;CLINVAR_ALLELEID=283832;CLINVAR_CLNDISDB=MedGen:C0013261,Orphanet:ORPHA233,SNOMED_CT:60318001;CLINVAR_CLNDN=Duane's_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.174812294C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26667;CLINVAR_GENEINFO=CHN1:1123;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12613075	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1447,140,0
chr2	175181529	rs268227	C	T	544.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.02;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs268227;dbSNPBuildID=79;ANN=T|5_prime_UTR_variant|MODIFIER|ATP5G3|ATP5G3|transcript|NM_001002258.4|protein_coding|1/4|c.-136G>A|||||136|,T|intron_variant|MODIFIER|ATP5G3|ATP5G3|transcript|NM_001190329.1|protein_coding|1/3|c.-73-63G>A||||||,T|intron_variant|MODIFIER|ATP5G3|ATP5G3|transcript|NM_001689.4|protein_coding|1/4|c.-73-63G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3889;p3_1000G_AF=0.776558;p3_1000G_AFR_AF=0.5915;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=15448;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.832;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176046257;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:175181529_C_T:573,45,0
chr2	175930275	rs35338571;rs751266232	A	AAC	31.87	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.97;ReadPosRankSum=0.319;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71004249,rs35338571;dbSNPBuildID=144,126;ANN=AAC|intron_variant|MODIFIER|LNPK|LNPK|transcript|NM_001305008.1|protein_coding|12/12|c.1253-78_1253-77dupGT||||||,AAC|intron_variant|MODIFIER|LNPK|LNPK|transcript|NM_001305009.1|protein_coding|13/13|c.1148-78_1148-77dupGT||||||,AAC|intron_variant|MODIFIER|LNPK|LNPK|transcript|NM_001305010.1|protein_coding|11/11|c.1061-78_1061-77dupGT||||||,AAC|intron_variant|MODIFIER|LNPK|LNPK|transcript|NM_001305011.1|protein_coding|10/10|c.686-78_686-77dupGT||||||,AAC|intron_variant|MODIFIER|LNPK|LNPK|transcript|NM_030650.2|protein_coding|12/12|c.1055-78_1055-77dupGT||||||,AAC|intron_variant|MODIFIER|LNPK|LNPK|transcript|NR_130941.1|pseudogene|14/14|n.1667-78_1667-77dupGT||||||	GT:AD:DP:GQ:PL	0/1:1,3:4:15:69,0,15
chr2	176002403	rs747051	G	A	448.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs747051;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|LNPK|LNPK|transcript|NM_001305008.1|protein_coding||c.-113C>T|||||58|,A|upstream_gene_variant|MODIFIER|LNPK|LNPK|transcript|NM_001305009.1|protein_coding||c.-6819C>T|||||58|,A|upstream_gene_variant|MODIFIER|LNPK|LNPK|transcript|NM_001305010.1|protein_coding||c.-113C>T|||||58|,A|upstream_gene_variant|MODIFIER|LNPK|LNPK|transcript|NM_001305011.1|protein_coding||c.-37826C>T|||||58|,A|upstream_gene_variant|MODIFIER|LNPK|LNPK|transcript|NM_030650.2|protein_coding||c.-6819C>T|||||58|,A|intron_variant|MODIFIER|LNPK|LNPK|transcript|NR_130941.1|pseudogene|1/14|n.328+109C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2127;p3_1000G_AF=0.42472;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=13902;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176867131;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:477,42,0
chr2	176080284	rs1868101	G	A	16.5	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=5.5;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1868101;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|EVX2|EVX2|transcript|NM_001080458.1|protein_coding|3/3|c.1254C>T|p.Gly418Gly|1440/1617|1254/1431|418/476||;p3_1000G_AA=A|||;p3_1000G_AC=1966;p3_1000G_AF=0.392572;p3_1000G_AFR_AF=0.4667;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=3944;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.1431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176945012;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:8:44,8,0
chr2	176080348	.	G	T	10.22	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=1.38;SOR=0.105;SNP;HET;VARTYPE=SNP;ANN=T|stop_gained|HIGH|EVX2|EVX2|transcript|NM_001080458.1|protein_coding|3/3|c.1190C>A|p.Ser397*|1376/1617|1190/1431|397/476||	GT:AD:DP:GQ:PL	0/1:2,2:4:23:38,0,23
chr2	176082509	rs6758117	C	T	54.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.761;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.85;ReadPosRankSum=-0.319;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6758117;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|EVX2|EVX2|transcript|NM_001080458.1|protein_coding|1/2|c.428-60G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2333;p3_1000G_AF=0.465855;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=5217;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.3131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176947237;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:83:83,0,136
chr2	176093094	rs2518053;193107	G	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.34;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-1.883;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2518053;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|HOXD13|HOXD13|transcript|NM_000523.3|protein_coding|1/2|c.204G>A|p.Ala68Ala|291/2327|204/1032|68/343||;p3_1000G_AA=A|||;p3_1000G_AC=2243;p3_1000G_AF=0.447883;p3_1000G_AFR_AF=0.8268;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=5338;p3_1000G_EAS_AF=0.3532;p3_1000G_EUR_AF=0.3052;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176957822;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.36844;CLINVAR_AF_TGP=0.4479;CLINVAR_ALLELEID=190272;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.176093094G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HOXD13:3239;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2518053	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,12:29:99:1|0:176093090_C_A:328,0,432
chr2	176118858	rs3731792	G	C	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.894;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.25;ReadPosRankSum=0.484;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731792;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|HOXD9|HOXD9|transcript|NM_014213.3|protein_coding||c.-3911G>C|||||3827|,C|intron_variant|MODIFIER|HOXD10|HOXD10|transcript|NM_002148.3|protein_coding|1/1|c.746-96G>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=260;p3_1000G_AF=0.0519169;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=28027;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176983586;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:156,0,147
chr2	176118870	rs143151088;rs559802024	CAAAACCAAAACA	C	75.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.792;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.484;SOR=0.086;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143151088;dbSNPBuildID=134,142;ANN=C|upstream_gene_variant|MODIFIER|HOXD9|HOXD9|transcript|NM_014213.3|protein_coding||c.-3898_-3887delAAAACCAAAACA|||||3814|,C|intron_variant|MODIFIER|HOXD10|HOXD10|transcript|NM_002148.3|protein_coding|1/1|c.746-78_746-67delCAAAACAAAAAC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1211;p3_1000G_AF=0.241813;p3_1000G_AFR_AF=0.4168;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=19270;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176983598;p3_1000G_GRCH37_REF=CAAAACCAAAACA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1697;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,3:7:99:113,0,159
chr2	176118882	rs77946005	A	C	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=1.07;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77946005;dbSNPBuildID=131;ANN=C|upstream_gene_variant|MODIFIER|HOXD9|HOXD9|transcript|NM_014213.3|protein_coding||c.-3887A>C|||||3803|,C|intron_variant|MODIFIER|HOXD10|HOXD10|transcript|NM_002148.3|protein_coding|1/1|c.746-72A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=559;p3_1000G_AF=0.111621;p3_1000G_AFR_AF=0.1082;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=17381;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.0308;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=176983610;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:159,0,113
chr2	176152000	rs34727427	T	C	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=8.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=-1.225;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34727427;dbSNPBuildID=126;ANN=C|missense_variant|MODERATE|HOXD4|HOXD4|transcript|NM_014621.2|protein_coding|1/2|c.367T>C|p.Ser123Pro|616/1296|367/768|123/255||,C|downstream_gene_variant|MODIFIER|MIR10B|MIR10B|transcript|NR_029609.1|pseudogene||n.*1588T>C|||||1588|;p3_1000G_AA=C|||;p3_1000G_AC=1184;p3_1000G_AF=0.236422;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=9977;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0.3082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177016728;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1451,2795;ESP6500_AA_GTC=252,947,924;ESP6500_CDS_SIZES=NM_014621.2:768;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=33;ESP6500_EA_AC=2576,5950;ESP6500_EA_GTC=397,1782,2084;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014621.2:missense;ESP6500_GL=HOXD4;ESP6500_GRCh38_POSITION=2:176152000;ESP6500_GS=74;ESP6500_GTC=649,2729,3008;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014621.2:c.367T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014621.2:p.(S123P);ESP6500_MAF=30.2135,34.1733,31.5299;ESP6500_PH=benign:0.0;ESP6500_TAC=4027,8745	GT:AD:DP:GQ:PL	0/1:6,12:18:99:380,0,154
chr2	176169051	rs72927183	C	T	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.725;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.355;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72927183;dbSNPBuildID=130;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|HOXD3|HOXD3|transcript|NM_006898.4|protein_coding|2/3|c.-64C>T||||||,T|5_prime_UTR_variant|MODIFIER|HOXD3|HOXD3|transcript|NM_006898.4|protein_coding|2/3|c.-64C>T|||||64|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110458.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110462.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110463.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110464.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110467.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110468.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110461.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110459.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110460.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110465.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110466.1|pseudogene||n.*4138G>A|||||4138|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_033979.2|pseudogene||n.*4138G>A|||||4138|;p3_1000G_AA=T|||;p3_1000G_AC=880;p3_1000G_AF=0.175719;p3_1000G_AFR_AF=0.1831;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=14374;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.3072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177033779;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:137,0,141
chr2	176169393	rs34729309	G	T	517.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.591;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=4.168;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.492;SOR=0.783;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34729309;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|HOXD3|HOXD3|transcript|NM_006898.4|protein_coding|2/3|c.279G>T|p.Pro93Pro|455/2299|279/1299|93/432||,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110458.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110462.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110463.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110464.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110467.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110468.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110461.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110459.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110460.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110465.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110466.1|pseudogene||n.*3796C>A|||||3796|,T|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_033979.2|pseudogene||n.*3796C>A|||||3796|;p3_1000G_AA=T|||;p3_1000G_AC=908;p3_1000G_AF=0.18131;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=14623;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.3072;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177034121;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=973,3433;ESP6500_AA_AGE=699.4+/-406.5;ESP6500_AA_GTC=107,759,1337;ESP6500_CDS_SIZES=NM_006898.4:1299;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=26;ESP6500_EA_AC=2656,5944;ESP6500_EA_AGE=656.2+/-401.3;ESP6500_EA_GTC=416,1824,2060;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006898.4:coding-synonymous;ESP6500_GL=HOXD3;ESP6500_GRCh38_POSITION=2:176169393;ESP6500_GTC=523,2583,3397;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_006898.4:c.279G>T;ESP6500_HGVS_PROTEIN_VAR=NM_006898.4:p.(P93);ESP6500_MAF=30.8837,22.0835,27.9025;ESP6500_TAC=3629,9377	GT:AD:DP:GQ:PL	0/1:27,21:48:99:546,0,734
chr2	176171483	rs2857535	G	A	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.463;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.823;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=-0.65;SOR=1.751;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2857535;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110458.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110462.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110463.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110464.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110467.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110468.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110461.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110459.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110460.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110465.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110466.1|pseudogene||n.*1706C>T|||||1706|,A|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_033979.2|pseudogene||n.*1706C>T|||||1706|,A|intron_variant|MODIFIER|HOXD3|HOXD3|transcript|NM_006898.4|protein_coding|2/2|c.542-34G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2880;p3_1000G_AF=0.57508;p3_1000G_AFR_AF=0.5083;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=13743;p3_1000G_EAS_AF=0.749;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177036211;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6779;p3_1000G_VT=SNP;ESP6500_AA_AC=2030,2360;ESP6500_AA_GTC=514,1002,679;ESP6500_CDS_SIZES=NM_006898.4:1299;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=13;ESP6500_EA_AC=3160,5430;ESP6500_EA_GTC=578,2004,1713;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006898.4:intron;ESP6500_GL=HOXD3;ESP6500_GRCh38_POSITION=2:176171483;ESP6500_GTC=1092,3006,2392;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006898.4:c.542-34G>A;ESP6500_MAF=36.787,46.2415,39.9846;ESP6500_TAC=5190,7790	GT:AD:DP:GQ:PL	0/1:13,5:18:99:124,0,350
chr2	176172026	rs1051929	T	C	4172.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=1.015;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1051929;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|HOXD3|HOXD3|transcript|NM_006898.4|protein_coding|3/3|c.1051T>C|p.Leu351Leu|1227/2299|1051/1299|351/432||,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110458.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110462.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110463.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110464.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110467.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110468.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110461.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110459.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110460.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110465.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110466.1|pseudogene||n.*1163A>G|||||1163|,C|downstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_033979.2|pseudogene||n.*1163A>G|||||1163|;p3_1000G_AA=C|||;p3_1000G_AC=4107;p3_1000G_AF=0.820088;p3_1000G_AFR_AF=0.9463;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=12088;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.675;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177036754;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3851,519;ESP6500_AA_GTC=1709,433,43;ESP6500_CDS_SIZES=NM_006898.4:1299;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=13;ESP6500_EA_AC=5868,2704;ESP6500_EA_GTC=2014,1840,432;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006898.4:coding-synonymous;ESP6500_GL=HOXD3;ESP6500_GRCh38_POSITION=2:176172026;ESP6500_GTC=3723,2273,475;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006898.4:c.1051T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006898.4:p.(L351);ESP6500_MAF=31.5446,11.8764,24.9034;ESP6500_TAC=9719,3223	GT:AD:DP:GQ:PL	1/1:0,119:119:99:4201,357,0
chr2	176190041	rs6710142	G	A	432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.194;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=5.407;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.66;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6710142;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|HOXD1|HOXD1|transcript|NM_024501.2|protein_coding|2/2|c.886G>A|p.Ala296Thr|1109/1975|886/987|296/328||,A|upstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110461.1|pseudogene||n.-1772C>T|||||1772|,A|upstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110459.1|pseudogene||n.-1469C>T|||||1469|,A|upstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110460.1|pseudogene||n.-1469C>T|||||1469|,A|upstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110465.1|pseudogene||n.-1469C>T|||||1469|,A|upstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_110466.1|pseudogene||n.-1469C>T|||||1469|,A|upstream_gene_variant|MODIFIER|HAGLR|HAGLR|transcript|NR_033979.2|pseudogene||n.-1083C>T|||||1083|,A|downstream_gene_variant|MODIFIER|MIR7704|MIR7704|transcript|NR_106991.1|pseudogene||n.*1140G>A|||||1140|;p3_1000G_AA=G|||;p3_1000G_AC=937;p3_1000G_AF=0.187101;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=15751;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=177054769;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1314,3092;ESP6500_AA_AGE=441.8+/-346.5;ESP6500_AA_GTC=190,934,1079;ESP6500_CDS_SIZES=NM_024501.1:987;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=114;ESP6500_EA_AC=2020,6580;ESP6500_EA_AGE=351.5+/-328.3;ESP6500_EA_GTC=242,1536,2522;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024501.1:missense;ESP6500_GL=HOXD1;ESP6500_GRCh38_POSITION=2:176190041;ESP6500_GS=58;ESP6500_GTC=432,2470,3601;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024501.1:c.886G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024501.1:p.(A296T);ESP6500_MAF=23.4884,29.823,25.6343;ESP6500_PH=benign:0.024;ESP6500_TAC=3334,9672	GT:AD:DP:GQ:PL	0/1:22,17:39:99:461,0,606
chr2	177264662	rs143406266;rs541734985	TGGC	T	279.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.43;ReadPosRankSum=0.98;SOR=0.293;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143406266,rs71668246;dbSNPBuildID=134,142;ANN=T|5_prime_UTR_variant|MODIFIER|NFE2L2|NFE2L2|transcript|NM_006164.4|protein_coding|1/5|c.-89_-87delGCC|||||87|,T|5_prime_UTR_variant|MODIFIER|NFE2L2|NFE2L2|transcript|NM_001313902.1|protein_coding|1/4|c.-89_-87delGCC|||||87|,T|5_prime_UTR_variant|MODIFIER|NFE2L2|NFE2L2|transcript|NM_001313903.1|protein_coding|1/5|c.-89_-87delGCC|||||87|,T|upstream_gene_variant|MODIFIER|NFE2L2|NFE2L2|transcript|NM_001145412.3|protein_coding||c.-30397_-30395delGCC|||||532|,T|upstream_gene_variant|MODIFIER|NFE2L2|NFE2L2|transcript|NM_001145413.3|protein_coding||c.-30397_-30395delGCC|||||532|,T|upstream_gene_variant|MODIFIER|NFE2L2|NFE2L2|transcript|NM_001313900.1|protein_coding||c.-30397_-30395delGCC|||||532|,T|upstream_gene_variant|MODIFIER|NFE2L2|NFE2L2|transcript|NM_001313901.1|protein_coding||c.-30397_-30395delGCC|||||532|,T|upstream_gene_variant|MODIFIER|NFE2L2|NFE2L2|transcript|NM_001313904.1|protein_coding||c.-30578_-30576delGCC|||||532|	GT:AD:DP:GQ:PL	0/1:3,8:11:99:317,0,99
chr2	177436700	rs3754989	C	T	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.319;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3754989;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|AGPS|AGPS|transcript|NM_003659.3|protein_coding|3/19|c.442-64C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4434;p3_1000G_AF=0.885383;p3_1000G_AFR_AF=0.7965;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=16317;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178301428;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:31:74,0,31
chr2	177497844	rs12468046	G	A	111.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12468046;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|AGPS|AGPS|transcript|NM_003659.3|protein_coding|13/19|c.1362+79G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4520;p3_1000G_AF=0.902556;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=15276;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.8897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178362572;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:139,12,0
chr2	177508096	rs143538996	T	C	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.84;ReadPosRankSum=-0.615;SOR=1.501;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143538996;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|AGPS|AGPS|transcript|NM_003659.3|protein_coding|16/19|c.1607+65T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=49;p3_1000G_AF=0.00978435;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=19208;p3_1000G_EAS_AF=0.0397;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178372824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,15:20:99:505,0,109
chr2	177538058	rs3213945;259117	G	T	610.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.109;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.975;SOR=0.862;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213945;dbSNPBuildID=106;ANN=T|intron_variant|MODIFIER|AGPS|AGPS|transcript|NM_003659.3|protein_coding|19/19|c.1856-16G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=681;p3_1000G_AF=0.135982;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=18677;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.0974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178402786;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=227,4179;ESP6500_AA_AGE=133.7+/-170.0;ESP6500_AA_GTC=6,215,1982;ESP6500_CDS_SIZES=NM_003659.3:1977;ESP6500_CG=-2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=93;ESP6500_EA_AC=801,7799;ESP6500_EA_AGE=184.5+/-232.4;ESP6500_EA_GTC=34,733,3533;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003659.3:intron;ESP6500_GL=AGPS;ESP6500_GRCh38_POSITION=2:177538058;ESP6500_GTC=40,948,5515;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003659.3:c.1856-16G>T;ESP6500_MAF=9.314,5.1521,7.904;ESP6500_TAC=1028,11978;CLINVAR_AF_ESP=0.0790;CLINVAR_AF_EXAC=0.11496;CLINVAR_AF_TGP=0.1360;CLINVAR_ALLELEID=250406;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.177538058G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGPS:8540;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3213945	GT:AD:DP:GQ:PL	0/1:23,27:50:99:639,0,583
chr2	177552408	rs144172590	T	C	1014.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.3;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=2.507;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.27;SOR=0.386;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144172590;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|TTC30B|TTC30B|transcript|NM_152517.2|protein_coding|1/1|c.356A>G|p.Gln119Arg|389/2644|356/1998|119/665||;p3_1000G_AA=T|||;p3_1000G_AC=49;p3_1000G_AF=0.00978435;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=19421;p3_1000G_EAS_AF=0.0387;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178417136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=6.2+/-15.9;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_152517.2:1998;ESP6500_CG=4.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=88;ESP6500_EA_AC=49,8551;ESP6500_EA_AGE=29.6+/-80.5;ESP6500_EA_GTC=0,49,4251;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152517.2:missense;ESP6500_GL=TTC30B;ESP6500_GRCh38_POSITION=2:177552408;ESP6500_GS=43;ESP6500_GTC=0,51,6452;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152517.2:c.356A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152517.2:p.(Q119R);ESP6500_MAF=0.5698,0.0454,0.3921;ESP6500_PH=benign:0.012;ESP6500_TAC=51,12955	GT:AD:DP:GQ:PL	0/1:39,37:76:99:1043,0,1069
chr2	177552414	rs11694988	C	T	2823.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.87;SOR=2.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11694988;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|TTC30B|TTC30B|transcript|NM_152517.2|protein_coding|1/1|c.350G>A|p.Arg117His|383/2644|350/1998|117/665||;p3_1000G_AA=C|||;p3_1000G_AC=4460;p3_1000G_AF=0.890575;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=19272;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178417142;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3731,675;ESP6500_AA_AGE=716.4+/-408.6;ESP6500_AA_GTC=1583,565,55;ESP6500_CDS_SIZES=NM_152517.2:1998;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=79;ESP6500_EA_AC=7348,1252;ESP6500_EA_AGE=744.5+/-407.2;ESP6500_EA_GTC=3148,1052,100;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152517.2:missense;ESP6500_GL=TTC30B;ESP6500_GRCh38_POSITION=2:177552414;ESP6500_GS=29;ESP6500_GTC=4731,1617,155;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152517.2:c.350G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152517.2:p.(R117H);ESP6500_MAF=14.5581,15.32,14.8162;ESP6500_PH=possibly-damaging:0.944;ESP6500_TAC=11079,1927	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2852,223,0
chr2	177552497	rs11695035	C	T	1397.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.15;QD=33.28;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11695035;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|TTC30B|TTC30B|transcript|NM_152517.2|protein_coding|1/1|c.267G>A|p.Leu89Leu|300/2644|267/1998|89/665||;p3_1000G_AA=C|||;p3_1000G_AC=4460;p3_1000G_AF=0.890575;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.9107;p3_1000G_AN=5008;p3_1000G_DP=17478;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178417225;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8926;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3739,663;ESP6500_AA_GTC=1594,551,56;ESP6500_CDS_SIZES=NM_152517.2:1998;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=23;ESP6500_EA_AC=7341,1259;ESP6500_EA_GTC=3146,1049,105;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152517.2:coding-synonymous;ESP6500_GL=TTC30B;ESP6500_GRCh38_POSITION=2:177552497;ESP6500_GTC=4740,1600,161;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152517.2:c.267G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152517.2:p.(L89);ESP6500_MAF=14.6395,15.0613,14.7823;ESP6500_TAC=11080,1922	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1426,126,0
chr2	177616597	rs16865451	A	G	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=0.636;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16865451;dbSNPBuildID=123;ANN=G|3_prime_UTR_variant|MODIFIER|TTC30A|TTC30A|transcript|NM_152275.3|protein_coding|1/1|c.*107T>C|||||107|;p3_1000G_AA=A|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=22238;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178481325;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,14:21:99:477,0,213
chr2	177616615	rs537871944	CAAATAT	C	478.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.183;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.81;ReadPosRankSum=0.669;SOR=0.99;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|3_prime_UTR_variant|MODIFIER|TTC30A|TTC30A|transcript|NM_152275.3|protein_coding|1/1|c.*83_*88delATATTT|||||83|;p3_1000G_AC=46;p3_1000G_AF=0.0091853;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=23547;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178481343;p3_1000G_GRCH37_REF=CAAATAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,13:23:99:516,0,653
chr2	177617090	rs10497497	G	T	3334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.41;QD=31.46;SOR=0.853;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10497497;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|TTC30A|TTC30A|transcript|NM_152275.3|protein_coding|1/1|c.1612C>A|p.Arg538Arg|1877/4669|1612/1998|538/665||;p3_1000G_AA=T|||;p3_1000G_AC=4510;p3_1000G_AF=0.900559;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=21051;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.8757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178481818;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3749,657;ESP6500_AA_AGE=277.2+/-273.6;ESP6500_AA_GTC=1612,525,66;ESP6500_CDS_SIZES=NM_152275.3:1998;ESP6500_CG=5.9;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=247;ESP6500_EA_AC=7462,1138;ESP6500_EA_AGE=235.8+/-268.3;ESP6500_EA_GTC=3242,978,80;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152275.3:coding-synonymous;ESP6500_GL=TTC30A;ESP6500_GRCh38_POSITION=2:177617090;ESP6500_GTC=4854,1503,146;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_152275.3:c.1612C>A;ESP6500_HGVS_PROTEIN_VAR=NM_152275.3:p.(R538);ESP6500_MAF=13.2326,14.9115,13.8013;ESP6500_TAC=11211,1795	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3363,318,0
chr2	177617366	rs28630685	C	T	1458.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=39.13;QD=26.64;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28630685;dbSNPBuildID=125;ANN=T|missense_variant|MODERATE|TTC30A|TTC30A|transcript|NM_152275.3|protein_coding|1/1|c.1336G>A|p.Val446Ile|1601/4669|1336/1998|446/665||	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1487,120,0
chr2	177617832	rs61164370	C	T	1290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.232;ClippingRankSum=0;DP=130;ExcessHet=3.0103;FS=6.73;MLEAC=1;MLEAF=0.5;MQ=56.02;MQRankSum=-2.984;QD=9.93;ReadPosRankSum=0.226;SOR=1.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61164370;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|TTC30A|TTC30A|transcript|NM_152275.3|protein_coding|1/1|c.870G>A|p.Leu290Leu|1135/4669|870/1998|290/665||;p3_1000G_AA=T|||;p3_1000G_AC=876;p3_1000G_AF=0.17492;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=21231;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.0954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178482560;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=928,3478;ESP6500_AA_AGE=731.0+/-410.2;ESP6500_AA_GTC=88,752,1363;ESP6500_CDS_SIZES=NM_152275.3:1998;ESP6500_CG=0.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=143;ESP6500_EA_AC=682,7918;ESP6500_EA_AGE=782.8+/-407.6;ESP6500_EA_GTC=32,618,3650;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152275.3:coding-synonymous;ESP6500_GL=TTC30A;ESP6500_GRCh38_POSITION=2:177617832;ESP6500_GTC=120,1370,5013;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152275.3:c.870G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152275.3:p.(L290);ESP6500_MAF=7.9302,21.0622,12.3789;ESP6500_TAC=1610,11396	GT:AD:DP:GQ:PL	0/1:76,54:130:99:1319,0,2216
chr2	177617970	rs3813256	A	G	2109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.1;ClippingRankSum=0;DP=149;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.55;MQRankSum=-0.408;QD=14.16;ReadPosRankSum=1.34;SOR=0.718;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813256;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|TTC30A|TTC30A|transcript|NM_152275.3|protein_coding|1/1|c.732T>C|p.Val244Val|997/4669|732/1998|244/665||;p3_1000G_AA=a|||;p3_1000G_AC=565;p3_1000G_AF=0.112819;p3_1000G_AFR_AF=0.0613;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=20999;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178482698;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=317,4089;ESP6500_AA_AGE=168.0+/-198.9;ESP6500_AA_GTC=8,301,1894;ESP6500_CDS_SIZES=NM_152275.3:1998;ESP6500_CG=-5.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=103;ESP6500_EA_AC=580,8020;ESP6500_EA_AGE=151.9+/-206.6;ESP6500_EA_GTC=19,542,3739;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152275.3:coding-synonymous;ESP6500_GL=TTC30A;ESP6500_GRCh38_POSITION=2:177617970;ESP6500_GTC=27,843,5633;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152275.3:c.732T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152275.3:p.(V244);ESP6500_MAF=6.7442,7.1947,6.8968;ESP6500_TAC=897,12109	GT:AD:DP:GQ:PL	0/1:74,75:149:99:2138,0,2005
chr2	177618009	rs16865343	G	A	2151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.131;ClippingRankSum=0;DP=155;ExcessHet=3.0103;FS=0.597;MLEAC=1;MLEAF=0.5;MQ=59.37;MQRankSum=-3.084;QD=13.97;ReadPosRankSum=0.346;SOR=0.773;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16865343;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|TTC30A|TTC30A|transcript|NM_152275.3|protein_coding|1/1|c.693C>T|p.Thr231Thr|958/4669|693/1998|231/665||;p3_1000G_AA=g|||;p3_1000G_AC=66;p3_1000G_AF=0.0131789;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=21233;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178482737;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=48,4358;ESP6500_AA_AGE=50.2+/-85.5;ESP6500_AA_GTC=0,48,2155;ESP6500_CDS_SIZES=NM_152275.3:1998;ESP6500_CG=-11.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=83;ESP6500_EA_AC=60,8540;ESP6500_EA_AGE=36.9+/-92.0;ESP6500_EA_GTC=0,60,4240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152275.3:coding-synonymous;ESP6500_GL=TTC30A;ESP6500_GRCh38_POSITION=2:177618009;ESP6500_GTC=0,108,6395;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152275.3:c.693C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152275.3:p.(T231);ESP6500_MAF=0.6977,1.0894,0.8304;ESP6500_TAC=108,12898	GT:AD:DP:GQ:PL	0/1:69,85:154:99:2180,0,1858
chr2	177629445	rs3830637;rs397723704;~rs67772336	G	GGGA	678.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.345;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.536;SOR=0.587;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3830637;dbSNPBuildID=107,138;ANN=GGGA|conservative_inframe_insertion|MODERATE|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|20/20|c.2761_2763dupTCC|p.Ser921dup|3081/9278|2763/2802|921/933||,GGGA|conservative_inframe_insertion|MODERATE|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|17/17|c.1429_1431dupTCC|p.Ser477dup|1582/7779|1431/1470|477/489||,GGGA|conservative_inframe_insertion|MODERATE|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|21/21|c.2011_2013dupTCC|p.Ser671dup|2112/8309|2013/2052|671/683||,GGGA|conservative_inframe_insertion|MODERATE|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|19/19|c.1687_1689dupTCC|p.Ser563dup|1822/1869|1689/1728|563/575||;p3_1000G_AC=2943;p3_1000G_AF=0.58766;p3_1000G_AFR_AF=0.1982;p3_1000G_AMR_AF=0.7882;p3_1000G_AN=5008;p3_1000G_DP=20873;p3_1000G_EAS_AF=0.7014;p3_1000G_EUR_AF=0.7425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178494173;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=INDEL;ESP6500_AA_AC=1326,25,2915;ESP6500_AA_GTC=216,2,892,0,23,1000;ESP6500_CDS_SIZES=NM_016953.3:2802,NM_016953.3:2802,NM_001077358.1:1728,NM_001077358.1:1728,NM_001077197.1:2052,NM_001077197.1:2052,NM_001077196.1:1470,NM_001077196.1:1470;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=198;ESP6500_EA_AC=6097,62,2095;ESP6500_EA_GTC=2237,51,1572,0,11,256;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016953.3:coding,NM_016953.3:coding,NM_001077358.1:coding,NM_001077358.1:coding,NM_001077197.1:coding,NM_001077197.1:coding,NM_001077196.1:coding,NM_001077196.1:coding;ESP6500_GL=PDE11A;ESP6500_GRCh38_POSITION=2:177629445;ESP6500_GTC=2453,53,2464,0,34,1256;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_016953.3:c.2763_2764insCCC,NM_016953.3:c.2763_2764insTCC,NM_001077358.1:c.1689_1690insCCC,NM_001077358.1:c.1689_1690insTCC,NM_001077197.1:c.2013_2014insCCC,NM_001077197.1:c.2013_2014insTCC,NM_001077196.1:c.1431_1432insCCC,NM_001077196.1:c.1431_1432insTCC;ESP6500_HGVS_PROTEIN_VAR=NM_016953.3:p.(S921_P922insP),NM_016953.3:p.(S921_P922insS),NM_001077358.1:p.(S563_P564insP),NM_001077358.1:p.(S563_P564insS),NM_001077197.1:p.(S671_P672insP),NM_001077197.1:p.(S671_P672insS),NM_001077196.1:p.(S477_P478insP),NM_001077196.1:p.(S477_P478insS);ESP6500_MAF=26.1328,31.669,40.7109;ESP6500_TAC=7423,87,5010	GT:AD:DP:GQ:PL	0/1:27,19:46:99:716,0,1260
chr2	177663975	rs13025391	C	T	1272.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13025391;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|18/19|c.2563-26G>A||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|15/16|c.1231-26G>A||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|19/20|c.1813-26G>A||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|17/18|c.1489-26G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4167;p3_1000G_AF=0.832069;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=18668;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178528703;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2929,1477;ESP6500_AA_AGE=473.3+/-356.6;ESP6500_AA_GTC=986,957,260;ESP6500_CDS_SIZES=NM_016953.3:2802,NM_001077358.1:1728,NM_001077197.1:2052,NM_001077196.1:1470;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=57;ESP6500_EA_AC=7387,1213;ESP6500_EA_AGE=245.8+/-274.5;ESP6500_EA_GTC=3176,1035,89;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016953.3:intron,NM_001077358.1:intron,NM_001077197.1:intron,NM_001077196.1:intron;ESP6500_GL=PDE11A;ESP6500_GRCh38_POSITION=2:177663975;ESP6500_GTC=4162,1992,349;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016953.3:c.2563-26G>A,NM_001077358.1:c.1489-26G>A,NM_001077197.1:c.1813-26G>A,NM_001077196.1:c.1231-26G>A;ESP6500_MAF=14.1047,33.5225,20.6828;ESP6500_TAC=10316,2690	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1301,126,0
chr2	177664061	rs13025904	G	A	313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13025904;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|18/19|c.2563-112C>T||||||,A|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|15/16|c.1231-112C>T||||||,A|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|19/20|c.1813-112C>T||||||,A|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|17/18|c.1489-112C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4167;p3_1000G_AF=0.832069;p3_1000G_AFR_AF=0.5893;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=19125;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178528789;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:342,30,0
chr2	177669382	rs2222711	G	T	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0.967;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2222711;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene||n.-3940G>T|||||3940|,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|18/19|c.2562+111C>A||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|15/16|c.1230+111C>A||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|19/20|c.1812+111C>A||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|17/18|c.1488+111C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3272;p3_1000G_AF=0.653355;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=19965;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.7455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178534110;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:68:133,0,68
chr2	177669596	rs6433687	A	G	753.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433687;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene||n.-3726A>G|||||3726|,G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|17/19|c.2488-29T>C||||||,G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|14/16|c.1156-29T>C||||||,G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|18/20|c.1738-29T>C||||||,G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|16/18|c.1414-29T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4154;p3_1000G_AF=0.829473;p3_1000G_AFR_AF=0.5794;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=17988;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178534324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2885,1521;ESP6500_AA_AGE=481.4+/-359.1;ESP6500_AA_GTC=959,967,277;ESP6500_CDS_SIZES=NM_016953.3:2802,NM_001077358.1:1728,NM_001077197.1:2052,NM_001077196.1:1470;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=62;ESP6500_EA_AC=7387,1213;ESP6500_EA_AGE=245.1+/-274.1;ESP6500_EA_GTC=3176,1035,89;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016953.3:intron,NM_001077358.1:intron,NM_001077197.1:intron,NM_001077196.1:intron;ESP6500_GL=PDE11A;ESP6500_GRCh38_POSITION=2:177669596;ESP6500_GTC=4135,2002,366;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016953.3:c.2488-29T>C,NM_001077358.1:c.1414-29T>C,NM_001077197.1:c.1738-29T>C,NM_001077196.1:c.1156-29T>C;ESP6500_MAF=14.1047,34.5211,21.0211;ESP6500_TAC=10272,2734	GT:AD:DP:GQ:PL	1/1:0,26:26:78:782,78,0
chr2	177675262	rs1426884722	TAA	T	209.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.129;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-2.153;SOR=0.892;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|17/19|c.2487+191_2487+192delTT||||||,T|intron_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene|1/4|n.104+1851_104+1852delAA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|14/16|c.1155+191_1155+192delTT||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|18/20|c.1737+191_1737+192delTT||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|16/18|c.1413+191_1413+192delTT||||||	GT:AD:DP:GQ:PL	0/1:5,8:13:99:247,0,154
chr2	177675295	rs3770015	G	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.853;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=1.19;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770015;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|17/19|c.2487+160C>T||||||,A|intron_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene|1/4|n.104+1870G>A||||||,A|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|14/16|c.1155+160C>T||||||,A|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|18/20|c.1737+160C>T||||||,A|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|16/18|c.1413+160C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3572;p3_1000G_AF=0.713259;p3_1000G_AFR_AF=0.4017;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=12645;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.8191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178540023;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8098;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,13:32:99:328,0,508
chr2	177675407	rs200791250;rs369768336	G	C	617.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.36;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.083;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.549;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200791250;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|17/19|c.2487+48C>G||||||,C|intron_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene|1/4|n.104+1982G>C||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|14/16|c.1155+48C>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|18/20|c.1737+48C>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|16/18|c.1413+48C>G||||||;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14910;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178540135;p3_1000G_GRCH37_REF=GC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP,INDEL;ESP6500_AA=-;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_016953.3:2802,NM_001077358.1:1728,NM_001077197.1:2052,NM_001077196.1:1470;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=63;ESP6500_EA_AC=4,8596;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,4,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016953.3:intron,NM_001077358.1:intron,NM_001077197.1:intron,NM_001077196.1:intron;ESP6500_GL=PDE11A;ESP6500_GRCh38_POSITION=2:177675407;ESP6500_GTC=0,4,6499;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_016953.3:c.2487+48C>G,NM_001077358.1:c.1413+48C>G,NM_001077197.1:c.1737+48C>G,NM_001077196.1:c.1155+48C>G;ESP6500_MAF=0.0465,0.0,0.0308;ESP6500_TAC=4,13002	GT:AD:DP:GQ:PL	0/1:25,28:53:99:646,0,668
chr2	177675565	rs3770016	A	G	1416.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.737;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=1.39;SOR=0.644;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770016;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|16/19|c.2424-47T>C||||||,G|intron_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene|1/4|n.104+2140A>G||||||,G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|13/16|c.1092-47T>C||||||,G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|17/20|c.1674-47T>C||||||,G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|15/18|c.1350-47T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3530;p3_1000G_AF=0.704872;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=18918;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.826;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178540293;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8231;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1981,2425;ESP6500_AA_AGE=547.3+/-377.3;ESP6500_AA_GTC=453,1075,675;ESP6500_CDS_SIZES=NM_016953.3:2802,NM_001077358.1:1728,NM_001077197.1:2052,NM_001077196.1:1470;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=35;ESP6500_EA_AC=7038,1562;ESP6500_EA_AGE=729.4+/-406.7;ESP6500_EA_GTC=2883,1272,145;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016953.3:intron,NM_001077358.1:intron,NM_001077197.1:intron,NM_001077196.1:intron;ESP6500_GL=PDE11A;ESP6500_GRCh38_POSITION=2:177675565;ESP6500_GTC=3336,2347,820;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016953.3:c.2424-47T>C,NM_001077358.1:c.1350-47T>C,NM_001077197.1:c.1674-47T>C,NM_001077196.1:c.1092-47T>C;ESP6500_MAF=18.1628,44.9614,30.6551;ESP6500_TAC=9019,3987	GT:AD:DP:GQ:PL	0/1:36,57:93:99:1445,0,876
chr2	177680675	rs2886423	T	C	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.18;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2886423;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|16/19|c.2423+151A>G||||||,C|intron_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene|1/4|n.104+7250T>C||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|13/16|c.1091+151A>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|17/20|c.1673+151A>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|15/18|c.1349+151A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4221;p3_1000G_AF=0.842851;p3_1000G_AFR_AF=0.8744;p3_1000G_AMR_AF=0.8818;p3_1000G_AN=5008;p3_1000G_DP=18068;p3_1000G_EAS_AF=0.8304;p3_1000G_EUR_AF=0.825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178545403;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:107,0,129
chr2	177680985	rs4538242	C	T	559.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4538242;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|15/19|c.2346-82G>A||||||,T|intron_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene|1/4|n.104+7560C>T||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|12/16|c.1014-82G>A||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|16/20|c.1596-82G>A||||||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|14/18|c.1272-82G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18172;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178545713;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:588,45,0
chr2	177697219	rs2886424	G	C	611.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.83;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2886424;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|15/19|c.2345+113C>G||||||,C|intron_variant|MODIFIER|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene|1/4|n.105-1210G>C||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|12/16|c.1013+113C>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|16/20|c.1595+113C>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|14/18|c.1271+113C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3898;p3_1000G_AF=0.778355;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=19869;p3_1000G_EAS_AF=0.7937;p3_1000G_EUR_AF=0.7972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178561947;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:640,51,0
chr2	177701087	rs10201180	T	C	751.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.91;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10201180;dbSNPBuildID=119;ANN=C|splice_region_variant&intron_variant|LOW|LOC105373764|LOC105373764|transcript|NR_136171.1|pseudogene|2/4|n.248-7T>C||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|14/19|c.2244+34A>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|11/16|c.912+34A>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|15/20|c.1494+34A>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|13/18|c.1170+34A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3815;p3_1000G_AF=0.761781;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.8473;p3_1000G_AN=5008;p3_1000G_DP=21301;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.7306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178565815;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3296,1110;ESP6500_AA_AGE=395.6+/-329.7;ESP6500_AA_GTC=1235,826,142;ESP6500_CDS_SIZES=NM_016953.3:2802,NM_001077358.1:1728,NM_001077197.1:2052,NM_001077196.1:1470;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=80;ESP6500_EA_AC=6611,1989;ESP6500_EA_AGE=344.6+/-325.4;ESP6500_EA_GTC=2569,1473,258;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016953.3:intron,NM_001077358.1:intron,NM_001077197.1:intron,NM_001077196.1:intron;ESP6500_GL=PDE11A;ESP6500_GRCh38_POSITION=2:177701087;ESP6500_GTC=3804,2299,400;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016953.3:c.2244+34A>G,NM_001077358.1:c.1170+34A>G,NM_001077197.1:c.1494+34A>G,NM_001077196.1:c.912+34A>G;ESP6500_MAF=23.1279,25.1929,23.8275;ESP6500_TAC=9907,3099	GT:AD:DP:GQ:PL	1/1:0,26:26:78:780,78,0
chr2	177816989	rs1438059	G	C	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1438059;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|8/19|c.1645-68C>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077196.1|protein_coding|5/16|c.313-68C>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|9/20|c.895-68C>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|7/18|c.571-68C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2107;p3_1000G_AF=0.420727;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=19091;p3_1000G_EAS_AF=0.6062;p3_1000G_EUR_AF=0.502;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178681716;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:465,39,0
chr2	177899637	rs3037901	A	AAT	176.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3037901,rs34532538;dbSNPBuildID=102;ANN=AAT|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|3/19|c.1162-1441_1162-1440dupAT||||||,AAT|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|4/20|c.412-1441_412-1440dupAT||||||,AAT|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|2/18|c.88-1441_88-1440dupAT||||||;p3_1000G_AC=2462;p3_1000G_AF=0.491613;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=6723;p3_1000G_EAS_AF=0.6349;p3_1000G_EUR_AF=0.5179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178764364;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:214,18,0
chr2	177905265	rs2695096	T	C	366.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2695096;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|2/19|c.1072-78A>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|3/20|c.322-78A>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077358.1|protein_coding|1/18|c.-3-78A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4864;p3_1000G_AF=0.971246;p3_1000G_AFR_AF=0.8956;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20856;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178769992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:395,33,0
chr2	177997023	rs6706521	T	C	316.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.46;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6706521;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|2/19|c.1071+17279A>G||||||,C|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|3/20|c.321+17279A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4911;p3_1000G_AF=0.980631;p3_1000G_AFR_AF=0.9312;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=19130;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178861750;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:345,27,0
chr2	178071646	rs1435573	T	G	2720.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1435573;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|1/20|c.792A>C|p.Thr264Thr|1110/9278|792/2802|264/933||,G|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|2/20|c.162+32656A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4444;p3_1000G_AF=0.88738;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=20542;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8728;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178936373;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.908;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3550,856;ESP6500_AA_AGE=335.5+/-303.9;ESP6500_AA_GTC=1423,704,76;ESP6500_CDS_SIZES=NM_016953.3:2802,NM_001077197.1:2052;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=80;ESP6500_EA_AC=7295,1305;ESP6500_EA_AGE=256.8+/-281.1;ESP6500_EA_GTC=3082,1131,87;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016953.3:coding-synonymous,NM_001077197.1:intron;ESP6500_GL=PDE11A;ESP6500_GRCh38_POSITION=2:178071646;ESP6500_GTC=4505,1835,163;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_016953.3:c.792A>C,NM_001077197.1:c.162+32656A>C;ESP6500_HGVS_PROTEIN_VAR=NM_016953.3:p.(T264),.;ESP6500_MAF=15.1744,19.4281,16.6154;ESP6500_TAC=10845,2161	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2749,234,0
chr2	178071887	rs6433711	C	T	2606.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=0.718;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433711;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|PDE11A|PDE11A|transcript|NM_016953.3|protein_coding|1/20|c.551G>A|p.Arg184Gln|869/9278|551/2802|184/933||,T|intron_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding|2/20|c.162+32415G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4959;p3_1000G_AF=0.990216;p3_1000G_AFR_AF=0.9675;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=20523;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178936614;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4311,95;ESP6500_AA_AGE=77.3+/-115.6;ESP6500_AA_GTC=2108,95,0;ESP6500_CDS_SIZES=NM_016953.3:2802,NM_001077197.1:2052;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=87;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016953.3:missense,NM_001077197.1:intron;ESP6500_GL=PDE11A;ESP6500_GRCh38_POSITION=2:178071887;ESP6500_GS=43,.;ESP6500_GTC=6407,96,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016953.3:c.551G>A,NM_001077197.1:c.162+32415G>A;ESP6500_HGVS_PROTEIN_VAR=NM_016953.3:p.(R184Q),.;ESP6500_MAF=0.0116,2.1562,0.7381;ESP6500_PH=benign:0.0,.;ESP6500_TAC=12910,96	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2635,243,0
chr2	178112893	rs2276622	C	G	1113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=3.334;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276622;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|PDE11A|PDE11A|transcript|NM_001077197.1|protein_coding||c.-8430G>C|||||4554|,G|intron_variant|MODIFIER|RBM45|RBM45|transcript|NM_152945.3|protein_coding|1/9|c.300+47C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1708;p3_1000G_AF=0.341054;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=17118;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.3559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=178977620;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=508,3844;ESP6500_AA_GTC=34,440,1702;ESP6500_CDS_SIZES=NM_152945.2:1425;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=11;ESP6500_EA_AC=3196,5340;ESP6500_EA_GTC=614,1968,1686;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152945.2:intron;ESP6500_GL=RBM45;ESP6500_GRCh38_POSITION=2:178112893;ESP6500_GTC=648,2408,3388;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152945.2:c.300+47C>G;ESP6500_MAF=37.4414,11.6728,28.7399;ESP6500_TAC=3704,9184	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1142,87,0
chr2	178339070	rs1434087	G	A	761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.21;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1434087;dbSNPBuildID=88;ANN=A|sequence_feature|MODERATE|OSBPL6|OSBPL6|modified-residue:phosphoserine|NM_001201480.1|protein_coding|10/26|c.870G>A||||||,A|sequence_feature|MODERATE|OSBPL6|OSBPL6|modified-residue:phosphoserine|NM_032523.3|protein_coding|10/25|c.870G>A||||||,A|sequence_feature|MODERATE|OSBPL6|OSBPL6|modified-residue:phosphoserine|NM_145739.2|protein_coding|8/24|c.807G>A||||||,A|synonymous_variant|LOW|OSBPL6|OSBPL6|transcript|NM_001201480.1|protein_coding|10/26|c.870G>A|p.Ser290Ser|1414/7298|870/2880|290/959||,A|synonymous_variant|LOW|OSBPL6|OSBPL6|transcript|NM_001201481.1|protein_coding|10/24|c.870G>A|p.Ser290Ser|1414/7130|870/2712|290/903||,A|synonymous_variant|LOW|OSBPL6|OSBPL6|transcript|NM_001201482.1|protein_coding|10/24|c.870G>A|p.Ser290Ser|1414/7115|870/2697|290/898||,A|synonymous_variant|LOW|OSBPL6|OSBPL6|transcript|NM_032523.3|protein_coding|10/25|c.870G>A|p.Ser290Ser|1414/7223|870/2805|290/934||,A|synonymous_variant|LOW|OSBPL6|OSBPL6|transcript|NM_145739.2|protein_coding|8/24|c.807G>A|p.Ser269Ser|927/6811|807/2817|269/938||;p3_1000G_AA=A|||;p3_1000G_AC=4612;p3_1000G_AF=0.920927;p3_1000G_AFR_AF=0.8714;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=16808;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.9026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179203797;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3924,482;ESP6500_AA_AGE=221.3+/-238.5;ESP6500_AA_GTC=1746,432,25;ESP6500_CDS_SIZES=NM_145739.2:2817,NM_032523.3:2805,NM_001201482.1:2697,NM_001201481.1:2712,NM_001201480.1:2880;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=68;ESP6500_EA_AC=7847,753;ESP6500_EA_AGE=179.8+/-228.8;ESP6500_EA_GTC=3573,701,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145739.2:coding-synonymous,NM_032523.3:coding-synonymous,NM_001201482.1:coding-synonymous,NM_001201481.1:coding-synonymous,NM_001201480.1:coding-synonymous;ESP6500_GL=OSBPL6;ESP6500_GRCh38_POSITION=2:178339070;ESP6500_GTC=5319,1133,51;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145739.2:c.807G>A,NM_032523.3:c.870G>A,NM_001201482.1:c.870G>A,NM_001201481.1:c.870G>A,NM_001201480.1:c.870G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145739.2:p.(S269),NM_032523.3:p.(S290),NM_001201482.1:p.(S290),NM_001201481.1:p.(S290),NM_001201480.1:p.(S290);ESP6500_MAF=8.7558,10.9396,9.4956;ESP6500_TAC=11771,1235	GT:AD:DP:GQ:PL	1/1:0,27:27:81:790,81,0
chr2	178361563	rs1560871	T	C	200.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1560871;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201480.1|protein_coding|13/25|c.1229-119T>C||||||,C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201481.1|protein_coding|11/23|c.1061-119T>C||||||,C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201482.1|protein_coding|12/23|c.1154-119T>C||||||,C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_032523.3|protein_coding|12/24|c.1154-119T>C||||||,C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_145739.2|protein_coding|11/23|c.1166-119T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4125;p3_1000G_AF=0.823682;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=18443;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.7167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179226290;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:229,18,0
chr2	178372104	rs6433724	A	G	1016.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.77;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433724;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201480.1|protein_coding|14/25|c.1363-22A>G||||||,G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201481.1|protein_coding|12/23|c.1195-22A>G||||||,G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201482.1|protein_coding|13/23|c.1288-1786A>G||||||,G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_032523.3|protein_coding|13/24|c.1288-22A>G||||||,G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_145739.2|protein_coding|12/23|c.1300-22A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3155;p3_1000G_AF=0.629992;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=17580;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.4891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179236831;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2599,1805;ESP6500_AA_AGE=511.6+/-367.8;ESP6500_AA_GTC=757,1085,360;ESP6500_CDS_SIZES=NM_145739.2:2817,NM_032523.3:2805,NM_001201482.1:2697,NM_001201481.1:2712,NM_001201480.1:2880;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=62;ESP6500_EA_AC=4304,4296;ESP6500_EA_AGE=571.4+/-389.5;ESP6500_EA_GTC=1108,2088,1104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145739.2:intron,NM_032523.3:intron,NM_001201482.1:intron,NM_001201481.1:intron,NM_001201480.1:intron;ESP6500_GL=OSBPL6;ESP6500_GRCh38_POSITION=2:178372104;ESP6500_GTC=1865,3173,1464;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145739.2:c.1300-22A>G,NM_032523.3:c.1288-22A>G,NM_001201482.1:c.1288-1786A>G,NM_001201481.1:c.1195-22A>G,NM_001201480.1:c.1363-22A>G;ESP6500_MAF=49.9535,40.9855,46.9163;ESP6500_TAC=6903,6101	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1045,96,0
chr2	178373780	rs7595571	T	C	345.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7595571;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201480.1|protein_coding|15/25|c.1471-110T>C||||||,C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201481.1|protein_coding|13/23|c.1303-110T>C||||||,C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201482.1|protein_coding|13/23|c.1288-110T>C||||||,C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_032523.3|protein_coding|14/24|c.1396-110T>C||||||,C|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_145739.2|protein_coding|13/23|c.1408-110T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4127;p3_1000G_AF=0.824081;p3_1000G_AFR_AF=0.8222;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=20408;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.7177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179238507;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:374,30,0
chr2	178374114	rs10190530	A	G	474.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.27;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10190530;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201480.1|protein_coding|16/25|c.1608+87A>G||||||,G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201481.1|protein_coding|14/23|c.1440+87A>G||||||,G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201482.1|protein_coding|14/23|c.1425+87A>G||||||,G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_032523.3|protein_coding|15/24|c.1533+87A>G||||||,G|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_145739.2|protein_coding|14/23|c.1545+87A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3162;p3_1000G_AF=0.63139;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=20408;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179238841;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:503,39,0
chr2	178386903	rs10930830	C	A	198.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10930830;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201480.1|protein_coding|20/25|c.2153-158C>A||||||,A|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201481.1|protein_coding|18/23|c.1985-158C>A||||||,A|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_001201482.1|protein_coding|18/23|c.1970-158C>A||||||,A|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_032523.3|protein_coding|19/24|c.2078-158C>A||||||,A|intron_variant|MODIFIER|OSBPL6|OSBPL6|transcript|NM_145739.2|protein_coding|18/23|c.2090-158C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1226;p3_1000G_AF=0.244808;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=18044;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179251630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0
chr2	178432094	rs3997876;332620	G	A	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.86;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.26;ReadPosRankSum=0.408;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3997876;dbSNPBuildID=108;ANN=A|3_prime_UTR_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_003690.4|protein_coding|8/8|c.*3C>T|||||3|,A|3_prime_UTR_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001139518.1|protein_coding|8/8|c.*3C>T|||||3|,A|3_prime_UTR_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001139517.1|protein_coding|7/7|c.*3C>T|||||3|,A|3_prime_UTR_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001316362.1|protein_coding|9/9|c.*3C>T|||||3|,A|intron_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110204.1|pseudogene|3/4|n.871+1205G>A||||||,A|intron_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110205.1|pseudogene|3/3|n.715+1205G>A||||||,A|intron_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110206.1|pseudogene|2/2|n.650+1205G>A||||||;ESP6500_AA=A;ESP6500_AA_AC=632,3774;ESP6500_AA_GTC=0,632,1571;ESP6500_CDS_SIZES=NM_003690.4:942,NM_001139518.1:867,NM_001139517.1:909;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=69;ESP6500_EA_AC=2096,6504;ESP6500_EA_GTC=0,2096,2204;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003690.4:utr-3,NM_001139518.1:utr-3,NM_001139517.1:utr-3;ESP6500_GL=PRKRA;ESP6500_GRCh38_POSITION=2:178432094;ESP6500_GTC=0,2728,3775;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003690.4:c.*3C>T,NM_001139518.1:c.*3C>T,NM_001139517.1:c.*3C>T;ESP6500_MAF=24.3721,14.3441,20.9749;ESP6500_TAC=2728,10278;CLINVAR_AF_ESP=0.2098;CLINVAR_AF_EXAC=0.24498;CLINVAR_ALLELEID=285627;CLINVAR_CLNDISDB=MedGen:C0393593,Orphanet:ORPHA68363;CLINVAR_CLNDN=Dystonia;CLINVAR_CLNHGVS=NC_000002.12:g.178432094G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53917;CLINVAR_GENEINFO=PRKRA:8575|LOC101927027:101927027;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3997876;CLINVAR_SSR=1	GT:AD:DP:GQ:PL	0/1:30,7:37:99:112,0,954
chr2	178436244	rs62176107;332623	G	A	1173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.359;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.833;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.34;ReadPosRankSum=1.15;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62176107;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|PRKRA|PRKRA|transcript|NM_003690.4|protein_coding|7/8|c.685C>T|p.Leu229Leu|886/1826|685/942|229/313||,A|synonymous_variant|LOW|PRKRA|PRKRA|transcript|NM_001139518.1|protein_coding|7/8|c.610C>T|p.Leu204Leu|687/1627|610/867|204/288||,A|synonymous_variant|LOW|PRKRA|PRKRA|transcript|NM_001139517.1|protein_coding|6/7|c.652C>T|p.Leu218Leu|966/1906|652/909|218/302||,A|synonymous_variant|LOW|PRKRA|PRKRA|transcript|NM_001316362.1|protein_coding|8/9|c.346C>T|p.Leu116Leu|1005/1945|346/603|116/200||,A|downstream_gene_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110205.1|pseudogene||n.*2153G>A|||||2153|,A|downstream_gene_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110206.1|pseudogene||n.*2153G>A|||||2153|,A|intron_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110204.1|pseudogene|4/4|n.966-2623G>A||||||;CLINVAR_AF_EXAC=0.24196;CLINVAR_ALLELEID=283890;CLINVAR_CLNDISDB=MedGen:C0393593,Orphanet:ORPHA68363;CLINVAR_CLNDN=Dystonia;CLINVAR_CLNHGVS=NC_000002.12:g.178436244G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:253579;CLINVAR_GENEINFO=PRKRA:8575|LOC101927027:101927027;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=62176107;CLINVAR_SSR=17	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,31:55:99:0|1:178436244_G_A:1202,0,1233
chr2	178436252	rs77419724;332624	A	T	1109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.458;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.357;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.34;ReadPosRankSum=1.81;SOR=0.409;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77419724;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|PRKRA|PRKRA|transcript|NM_003690.4|protein_coding|7/8|c.677T>A|p.Ile226Asn|878/1826|677/942|226/313||,T|missense_variant|MODERATE|PRKRA|PRKRA|transcript|NM_001139518.1|protein_coding|7/8|c.602T>A|p.Ile201Asn|679/1627|602/867|201/288||,T|missense_variant|MODERATE|PRKRA|PRKRA|transcript|NM_001139517.1|protein_coding|6/7|c.644T>A|p.Ile215Asn|958/1906|644/909|215/302||,T|missense_variant|MODERATE|PRKRA|PRKRA|transcript|NM_001316362.1|protein_coding|8/9|c.338T>A|p.Ile113Asn|997/1945|338/603|113/200||,T|downstream_gene_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110205.1|pseudogene||n.*2161A>T|||||2161|,T|downstream_gene_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110206.1|pseudogene||n.*2161A>T|||||2161|,T|intron_variant|MODIFIER|LOC101927027|LOC101927027|transcript|NR_110204.1|pseudogene|4/4|n.966-2615A>T||||||;ESP6500_AA=A;ESP6500_AA_AC=226,4180;ESP6500_AA_GTC=0,226,1977;ESP6500_CDS_SIZES=NM_003690.4:942,NM_001139518.1:867,NM_001139517.1:909;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=172;ESP6500_EA_AC=835,7765;ESP6500_EA_GTC=0,835,3465;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003690.4:missense,NM_001139518.1:missense,NM_001139517.1:missense;ESP6500_GL=PRKRA;ESP6500_GRCh38_POSITION=2:178436252;ESP6500_GS=149,149,149;ESP6500_GTC=0,1061,5442;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_003690.4:c.677T>A,NM_001139518.1:c.602T>A,NM_001139517.1:c.644T>A;ESP6500_HGVS_PROTEIN_VAR=NM_003690.4:p.(I226N),NM_001139518.1:p.(I201N),NM_001139517.1:p.(I215N);ESP6500_MAF=9.7093,5.1294,8.1578;ESP6500_PH=probably-damaging:0.996,probably-damaging:0.996,probably-damaging:0.996;ESP6500_TAC=1061,11945;CLINVAR_AF_ESP=0.0816;CLINVAR_AF_EXAC=0.16294;CLINVAR_ALLELEID=283891;CLINVAR_CLNDISDB=MedGen:C0393593,Orphanet:ORPHA68363;CLINVAR_CLNDN=Dystonia;CLINVAR_CLNHGVS=NC_000002.12:g.178436252A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:255752;CLINVAR_GENEINFO=PRKRA:8575|LOC101927027:101927027;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=77419724;CLINVAR_SSR=1	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,29:52:99:0|1:178436244_G_A:1138,0,1201
chr2	178451007	rs141354030;332634	GGC	G	91.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.78;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=11.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.87;ReadPosRankSum=-0.441;SOR=3.477;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs141354030,rs79769305;dbSNPBuildID=134;ANN=G|frameshift_variant|HIGH|PRKRA|PRKRA|transcript|NM_003690.4|protein_coding|1/8|c.22_23delGC|p.Ala8fs|224/1826|22/942|8/313||,G|5_prime_UTR_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001316362.1|protein_coding|1/9|c.-428_-427delGC|||||6530|,G|upstream_gene_variant|MODIFIER|DFNB59|DFNB59|transcript|NM_001042702.3|protein_coding||c.-2402_-2401delGC|||||428|,G|upstream_gene_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001139518.1|protein_coding||c.-608_-607delGC|||||380|,G|upstream_gene_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001139517.1|protein_coding||c.-566_-565delGC|||||251|;p3_1000G_AC=1193;p3_1000G_AF=0.238219;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=12129;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.339;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179315734;p3_1000G_GRCH37_REF=GGC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=INDEL;ESP6500_AA_AC=658,2174;ESP6500_AA_GTC=225,208,983;ESP6500_CDS_SIZES=NM_003690.4:942;ESP6500_CG=-1.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=7;ESP6500_EA_AC=2206,4138;ESP6500_EA_GTC=751,704,1717;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003690.4:frameshift;ESP6500_GL=PRKRA;ESP6500_GRCh38_POSITION=2:178451007;ESP6500_GTC=976,912,2700;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003690.4:c.22_23del2;ESP6500_HGVS_PROTEIN_VAR=NM_003690.4:p.(A8Rfs*22);ESP6500_MAF=34.773,23.2345,31.2119;ESP6500_TAC=2864,6312;CLINVAR_AF_ESP=0.3121;CLINVAR_AF_TGP=0.2382;CLINVAR_ALLELEID=283899;CLINVAR_CLNDISDB=MedGen:C0393593,Orphanet:ORPHA68363|MedGen:CN239439;CLINVAR_CLNDN=Dystonia|Nonsyndromic_Hearing_Loss,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178451008_178451009delGC;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498134;CLINVAR_GENEINFO=PRKRA:8575|PJVK:494513;CLINVAR_MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=141354030	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,5:32:99:0|1:178451007_GGC_G:129,0,1575
chr2	178451030	rs9406386;332635	T	G	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=11.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.117;SOR=3.507;SNP;HET;VARTYPE=SNP;dbSNPBuildID=119;ANN=G|initiator_codon_variant|LOW|PRKRA|PRKRA|transcript|NM_003690.4|protein_coding|1/8|c.1A>C|p.Met1?|202/1826|1/942|1/313||,G|5_prime_UTR_premature_start_codon_gain_variant|LOW|PRKRA|PRKRA|transcript|NM_001316362.1|protein_coding|1/9|c.-449A>C||||||,G|sequence_feature|LOW|PRKRA|PRKRA|antibody-mapping:heterologous_protein_expression_evidence|NM_003690.4|protein_coding|1/8|c.1A>C||||||,G|sequence_feature|LOW|PRKRA|PRKRA|miscellaneous-region:Sufficient_for_self-association_and_interaction_with_TARBP2|NM_003690.4|protein_coding|1/8|c.1A>C||||||,G|5_prime_UTR_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001316362.1|protein_coding|1/9|c.-449A>C|||||6552|,G|upstream_gene_variant|MODIFIER|DFNB59|DFNB59|transcript|NM_001042702.3|protein_coding||c.-2380T>G|||||406|,G|upstream_gene_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001139518.1|protein_coding||c.-629A>C|||||402|,G|upstream_gene_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001139517.1|protein_coding||c.-587A>C|||||273|;CLINVAR_AF_EXAC=0.46235;CLINVAR_ALLELEID=283148;CLINVAR_CLNDISDB=MedGen:C0393593,Orphanet:ORPHA68363|MedGen:CN169374|MedGen:CN239439;CLINVAR_CLNDN=Dystonia|not_specified|Nonsyndromic_Hearing_Loss,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178451030T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:288802;CLINVAR_GENEINFO=PRKRA:8575|PJVK:494513;CLINVAR_MC=SO:0001583|missense_variant,SO:0001623|5_prime_UTR_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9406386	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,6:33:99:0|1:178451007_GGC_G:171,0,1579
chr2	178451054	rs62176113;332637	C	T	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.741;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=14.477;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.59;ReadPosRankSum=-0.089;SOR=3.816;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62176113;dbSNPBuildID=129;ANN=T|5_prime_UTR_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_003690.4|protein_coding|1/8|c.-24G>A|||||24|,T|5_prime_UTR_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001316362.1|protein_coding|1/9|c.-473G>A|||||6576|,T|upstream_gene_variant|MODIFIER|DFNB59|DFNB59|transcript|NM_001042702.3|protein_coding||c.-2356C>T|||||382|,T|upstream_gene_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001139518.1|protein_coding||c.-653G>A|||||426|,T|upstream_gene_variant|MODIFIER|PRKRA|PRKRA|transcript|NM_001139517.1|protein_coding||c.-611G>A|||||297|;CLINVAR_ALLELEID=283152;CLINVAR_CLNDISDB=MedGen:C0393593,Orphanet:ORPHA68363|MedGen:CN239439;CLINVAR_CLNDN=Dystonia|Nonsyndromic_Hearing_Loss,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178451054C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:271057;CLINVAR_GENEINFO=PRKRA:8575|PJVK:494513;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=62176113	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,9:37:99:0|1:178451007_GGC_G:235,0,1548
chr2	178459298	rs7600176	C	T	494.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7600176;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|FKBP7|FKBP7|transcript|NM_181342.2|protein_coding||c.*6472G>A|||||4366|,T|downstream_gene_variant|MODIFIER|FKBP7|FKBP7|transcript|NM_001135212.1|protein_coding||c.*6472G>A|||||4366|,T|intron_variant|MODIFIER|DFNB59|DFNB59|transcript|NM_001042702.3|protein_coding|5/6|c.667+671C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2023;p3_1000G_AF=0.403954;p3_1000G_AFR_AF=0.4773;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=16776;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179324025;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:523,45,0
chr2	178465741	rs11336824;rs797014954;rs557977609;~rs11336824	TA	T	470.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.15;SOR=1.493;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11336824;dbSNPBuildID=134,146;ANN=T|3_prime_UTR_variant|MODIFIER|FKBP7|FKBP7|transcript|NM_181342.2|protein_coding|4/4|c.*28delT|||||28|,T|3_prime_UTR_variant|MODIFIER|FKBP7|FKBP7|transcript|NM_001135212.1|protein_coding|4/4|c.*28delT|||||28|,T|downstream_gene_variant|MODIFIER|DFNB59|DFNB59|transcript|NM_001042702.3|protein_coding||c.*4468delA|||||4359|;p3_1000G_AC=2149;p3_1000G_AF=0.429113;p3_1000G_AFR_AF=0.5144;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=19034;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179330468;p3_1000G_GRCH37_REF=TA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=INDEL;ESP6500_AA_AC=22,0,2021,2223;ESP6500_AA_GTC=0,0,5,17,0,0,0,442,1132,537;ESP6500_CDS_SIZES=NM_181342.2:669,NM_181342.2:669,NM_181342.2:669,NM_001135212.1:666,NM_001135212.1:666,NM_001135212.1:666;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=38;ESP6500_EA_AC=39,11,1862,6340;ESP6500_EA_GTC=0,0,4,35,0,1,10,124,1609,2343;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181342.2:utr-3,NM_181342.2:utr-3,NM_181342.2:utr-3,NM_001135212.1:utr-3,NM_001135212.1:utr-3,NM_001135212.1:utr-3;ESP6500_GL=FKBP7;ESP6500_GRCh38_POSITION=2:178465741;ESP6500_GTC=0,0,9,52,0,1,10,566,2741,2880;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_181342.2:c.*28del1,NM_181342.2:c.*28_*29insTT,NM_181342.2:c.*28_*29insT,NM_001135212.1:c.*28del1,NM_001135212.1:c.*28_*29insTT,NM_001135212.1:c.*28_*29insT;ESP6500_MAF=23.1701,47.8903,31.5945;ESP6500_TAC=61,11,3883,8563	GT:AD:DP:GQ:PL	1/1:0,18:18:54:508,54,0
chr2	178477226	rs6704545	G	A	817.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=2.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6704545;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|PLEKHA3|PLEKHA3|transcript|NM_019091.3|protein_coding||c.-3644G>A|||||3246|,A|intron_variant|MODIFIER|FKBP7|FKBP7|transcript|NM_181342.2|protein_coding|1/3|c.222-13C>T||||||,A|intron_variant|MODIFIER|FKBP7|FKBP7|transcript|NM_001135212.1|protein_coding|1/3|c.222-13C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2173;p3_1000G_AF=0.433906;p3_1000G_AFR_AF=0.5628;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=14129;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.2147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179341953;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2360,2046;ESP6500_AA_AGE=550.3+/-378.0;ESP6500_AA_GTC=640,1080,483;ESP6500_CDS_SIZES=NM_181342.2:669,NM_001135212.1:666;ESP6500_CG=3.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=52;ESP6500_EA_AC=1700,6900;ESP6500_EA_AGE=732.9+/-406.9;ESP6500_EA_GTC=160,1380,2760;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181342.2:intron,NM_001135212.1:intron;ESP6500_GL=FKBP7;ESP6500_GRCh38_POSITION=2:178477226;ESP6500_GTC=800,2460,3243;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_181342.2:c.222-13C>T,NM_001135212.1:c.222-13C>T;ESP6500_MAF=19.7674,46.4367,31.2164;ESP6500_TAC=4060,8946	GT:AD:DP:GQ:PL	1/1:0,27:27:81:846,81,0
chr2	178493938	rs2303536	A	G	392.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.865;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303536;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|PLEKHA3|PLEKHA3|transcript|NM_019091.3|protein_coding|4/8|c.399A>G|p.Thr133Thr|797/2469|399/903|133/300||;p3_1000G_AA=G|||;p3_1000G_AC=1527;p3_1000G_AF=0.304912;p3_1000G_AFR_AF=0.2095;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=20258;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.1551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179358665;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=883,3523;ESP6500_AA_AGE=741.1+/-411.2;ESP6500_AA_GTC=90,703,1410;ESP6500_CDS_SIZES=NM_019091.3:903;ESP6500_CG=-11.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=120;ESP6500_EA_AC=1271,7329;ESP6500_EA_AGE=760.0+/-407.6;ESP6500_EA_GTC=99,1073,3128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019091.3:coding-synonymous;ESP6500_GL=PLEKHA3;ESP6500_GRCh38_POSITION=2:178493938;ESP6500_GTC=189,1776,4538;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019091.3:c.399A>G;ESP6500_HGVS_PROTEIN_VAR=NM_019091.3:p.(T133);ESP6500_MAF=14.7791,20.0409,16.5616;ESP6500_TAC=2154,10852	GT:AD:DP:GQ:PL	0/1:13,16:29:99:421,0,294
chr2	178499080	rs3214536;rs79989630;~rs3214536	A	AT	133.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.3;SOR=1.329;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs79989630,rs3214536;dbSNPBuildID=126,131;ANN=AT|intron_variant|MODIFIER|PLEKHA3|PLEKHA3|transcript|NM_019091.3|protein_coding|5/7|c.616-122dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|deletion;p3_1000G_AC=3734;p3_1000G_AF=0.745607;p3_1000G_AFR_AF=0.7519;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=13492;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179363807;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8793;p3_1000G_VT=INDEL;ESP6500_AA_AC=2762,818;ESP6500_AA_GTC=1129,504,157;ESP6500_CDS_SIZES=NM_019091.3:903;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=190;ESP6500_EA_AC=5256,2436;ESP6500_EA_GTC=1905,1446,495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019091.3:intron;ESP6500_GL=PLEKHA3;ESP6500_GRCh38_POSITION=2:178499080;ESP6500_GTC=3034,1950,652;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_019091.3:c.616-131_616-130insT;ESP6500_MAF=31.6693,22.8492,28.868;ESP6500_TAC=8018,3254	GT:AD:DP:GQ:PL	1/1:0,6:6:18:171,18,0
chr2	178502359	rs967507	A	G	691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs967507;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PLEKHA3|PLEKHA3|transcript|NM_019091.3|protein_coding|7/7|c.775+1183A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2040;p3_1000G_AF=0.407348;p3_1000G_AFR_AF=0.5613;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=15540;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.166;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179367086;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:720,66,0
chr2	178503653	rs16866352	G	A	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.252;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.68;ReadPosRankSum=-0.941;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16866352;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|PLEKHA3|PLEKHA3|transcript|NM_019091.3|protein_coding|7/7|c.776-107G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=859;p3_1000G_AF=0.171526;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=19772;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179368380;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,14:26:99:488,0,396
chr2	178526912	rs11424072;rs1268844057;rs373922480;332674	C	CT	223.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.86;SOR=3.056;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11424072,rs373922480;dbSNPBuildID=151,131,138;ANN=CT|3_prime_UTR_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|363/363|c.*99dupA|||||99|,CT|3_prime_UTR_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|313/313|c.*99dupA|||||99|,CT|3_prime_UTR_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|191/191|c.*99dupA|||||99|,CT|3_prime_UTR_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|312/312|c.*99dupA|||||99|,CT|3_prime_UTR_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|192/192|c.*99dupA|||||99|,CT|3_prime_UTR_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|192/192|c.*99dupA|||||99|,CT|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|2/16|n.219+3284dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+3284dupT||||||INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=285684;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178526913dupT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498140;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_ORIGIN=1;CLINVAR_RS=11424072	GT:AD:DP:GQ:PL	1/1:0,9:9:27:261,27,0
chr2	178527353	rs16866373;262345	A	T	979.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.083;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=4.207;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.111;SOR=1.094;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16866373;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|2/16|n.219+3717A>T||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|362/362|c.107681-46T>A||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+3717A>T||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|312/312|c.102758-46T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|190/190|c.80486-46T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|311/311|c.99977-46T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|191/191|c.80861-46T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|191/191|c.81062-46T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1047;p3_1000G_AF=0.209065;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=22400;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179392080;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=276,3350;ESP6500_AA_GTC=10,256,1547;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=47;ESP6500_EA_AC=1192,6966;ESP6500_EA_GTC=91,1010,2978;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178527353;ESP6500_GTC=101,1266,4525;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.81062-46T>A,NM_133432.3:c.80861-46T>A,NM_133378.4:c.99977-46T>A,NM_003319.4:c.80486-46T>A,NM_001267550.1:c.107681-46T>A,NM_001256850.1:c.102758-46T>A;ESP6500_MAF=14.6114,7.6117,12.4576;ESP6500_TAC=1468,10316;CLINVAR_AF_ESP=0.1246;CLINVAR_AF_EXAC=0.17679;CLINVAR_AF_TGP=0.2091;CLINVAR_ALLELEID=250408;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178527353A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=16866373	GT:AD:DP:GQ:PL	0/1:45,37:82:99:1008,0,1190
chr2	178531231	rs3813250;47689	T	C	3013.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.41;SOR=0.901;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3813250;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|358/363|c.105384A>G|p.Ala35128Ala|105609/109222|105384/107976|35128/35991||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|308/313|c.100461A>G|p.Ala33487Ala|100686/104299|100461/103053|33487/34350||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|186/191|c.78189A>G|p.Ala26063Ala|78414/82027|78189/80781|26063/26926||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|307/312|c.97680A>G|p.Ala32560Ala|97905/101518|97680/100272|32560/33423||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|187/192|c.78564A>G|p.Ala26188Ala|78789/82402|78564/81156|26188/27051||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|187/192|c.78765A>G|p.Ala26255Ala|78990/82603|78765/81357|26255/27118||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|2/16|n.220-4501T>C||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+7595T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2545;p3_1000G_AF=0.508187;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=20546;p3_1000G_EAS_AF=0.7123;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179395958;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5521;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2024,1820;ESP6500_AA_GTC=550,924,448;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-0.2;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=166;ESP6500_EA_AC=1845,6423;ESP6500_EA_GTC=194,1457,2483;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178531231;ESP6500_GTC=744,2381,2931;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.78765A>G,NM_133432.3:c.78564A>G,NM_133378.4:c.97680A>G,NM_003319.4:c.78189A>G,NM_001267550.1:c.105384A>G,NM_001256850.1:c.100461A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(A26255),NM_133432.3:p.(A26188),NM_133378.4:p.(A32560),NM_003319.4:p.(A26063),NM_001267550.1:p.(A35128),NM_001256850.1:p.(A33487);ESP6500_MAF=22.3149,47.3465,31.9435;ESP6500_TAC=3869,8243;CLINVAR_AF_ESP=0.3194;CLINVAR_AF_EXAC=0.35180;CLINVAR_ALLELEID=56853;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178531231T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26744;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3813250	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3042,279,0
chr2	178531627	rs3829748;47681	G	A	1112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.022;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.115;SOR=0.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3829748;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|358/363|c.104988C>T|p.Val34996Val|105213/109222|104988/107976|34996/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|308/313|c.100065C>T|p.Val33355Val|100290/104299|100065/103053|33355/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|186/191|c.77793C>T|p.Val25931Val|78018/82027|77793/80781|25931/26926||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|307/312|c.97284C>T|p.Val32428Val|97509/101518|97284/100272|32428/33423||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|187/192|c.78168C>T|p.Val26056Val|78393/82402|78168/81156|26056/27051||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|187/192|c.78369C>T|p.Val26123Val|78594/82603|78369/81357|26123/27118||,A|sequence_feature|LOW|TTN|TTN|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001256850.1|protein_coding|308/313|c.100065C>T||||||,A|sequence_feature|LOW|TTN|TTN|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_003319.4|protein_coding|186/191|c.77793C>T||||||,A|sequence_feature|LOW|TTN|TTN|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_133378.4|protein_coding|307/312|c.97284C>T||||||,A|sequence_feature|LOW|TTN|TTN|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_133432.3|protein_coding|187/192|c.78168C>T||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|2/16|n.220-4105G>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+7991G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1161;p3_1000G_AF=0.231829;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=20197;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179396354;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=540,3446;ESP6500_AA_GTC=39,462,1492;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=127;ESP6500_EA_AC=1213,7149;ESP6500_EA_GTC=92,1029,3060;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178531627;ESP6500_GTC=131,1491,4552;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.78369C>T,NM_133432.3:c.78168C>T,NM_133378.4:c.97284C>T,NM_003319.4:c.77793C>T,NM_001267550.1:c.104988C>T,NM_001256850.1:c.100065C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(V26123),NM_133432.3:p.(V26056),NM_133378.4:p.(V32428),NM_003319.4:p.(V25931),NM_001267550.1:p.(V34996),NM_001256850.1:p.(V33355);ESP6500_MAF=14.5061,13.5474,14.1966;ESP6500_TAC=1753,10595;CLINVAR_AF_ESP=0.1420;CLINVAR_AF_EXAC=0.18245;CLINVAR_AF_TGP=0.2318;CLINVAR_ALLELEID=56845;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178531627G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26812;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3829748	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1141,0,1210
chr2	178532834	rs3829747;47663	C	T	1291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.624;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=2.566;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=1.67;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3829747;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|358/363|c.103781G>A|p.Arg34594His|104006/109222|103781/107976|34594/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|308/313|c.98858G>A|p.Arg32953His|99083/104299|98858/103053|32953/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|186/191|c.76586G>A|p.Arg25529His|76811/82027|76586/80781|25529/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|307/312|c.96077G>A|p.Arg32026His|96302/101518|96077/100272|32026/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|187/192|c.76961G>A|p.Arg25654His|77186/82402|76961/81156|25654/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|187/192|c.77162G>A|p.Arg25721His|77387/82603|77162/81357|25721/27118||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|2/16|n.220-2898C>T||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+9198C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1045;p3_1000G_AF=0.208666;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=22656;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179397561;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=293,3679;ESP6500_AA_GTC=10,273,1703;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=104;ESP6500_EA_AC=1201,7129;ESP6500_EA_GTC=90,1021,3054;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178532834;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=100,1294,4757;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.77162G>A,NM_133432.3:c.76961G>A,NM_133378.4:c.96077G>A,NM_003319.4:c.76586G>A,NM_001267550.1:c.103781G>A,NM_001256850.1:c.98858G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(R25721H),NM_133432.3:p.(R25654H),NM_133378.4:p.(R32026H),NM_003319.4:p.(R25529H),NM_001267550.1:p.(R34594H),NM_001256850.1:p.(R32953H);ESP6500_MAF=14.4178,7.3766,12.1444;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=1494,10808;CLINVAR_AF_ESP=0.1214;CLINVAR_AF_EXAC=0.17535;CLINVAR_AF_TGP=0.2087;CLINVAR_ALLELEID=56827;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178532834C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26843;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3829747	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1320,0,1219
chr2	178534096	rs2857265;47650	G	A	1065.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.372;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.588;SOR=0.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2857265;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|358/363|c.102519C>T|p.Gly34173Gly|102744/109222|102519/107976|34173/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|308/313|c.97596C>T|p.Gly32532Gly|97821/104299|97596/103053|32532/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|186/191|c.75324C>T|p.Gly25108Gly|75549/82027|75324/80781|25108/26926||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|307/312|c.94815C>T|p.Gly31605Gly|95040/101518|94815/100272|31605/33423||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|187/192|c.75699C>T|p.Gly25233Gly|75924/82402|75699/81156|25233/27051||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|187/192|c.75900C>T|p.Gly25300Gly|76125/82603|75900/81357|25300/27118||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|2/16|n.220-1636G>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+10460G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1162;p3_1000G_AF=0.232029;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=23498;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179398823;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=552,3352;ESP6500_AA_GTC=40,472,1440;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-10.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=113;ESP6500_EA_AC=1214,7072;ESP6500_EA_GTC=92,1030,3021;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178534096;ESP6500_GTC=132,1502,4461;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.75900C>T,NM_133432.3:c.75699C>T,NM_133378.4:c.94815C>T,NM_003319.4:c.75324C>T,NM_001267550.1:c.102519C>T,NM_001256850.1:c.97596C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(G25300),NM_133432.3:p.(G25233),NM_133378.4:p.(G31605),NM_003319.4:p.(G25108),NM_001267550.1:p.(G34173),NM_001256850.1:p.(G32532);ESP6500_MAF=14.6512,14.1393,14.4873;ESP6500_TAC=1766,10424;CLINVAR_AF_ESP=0.1449;CLINVAR_AF_EXAC=0.18234;CLINVAR_AF_TGP=0.2320;CLINVAR_ALLELEID=56814;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178534096G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26853;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2857265	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1094,0,1312
chr2	178535859	rs202214630;96324	A	G	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.554;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=3.119;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=-0.226;SOR=0.247;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202214630;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|3/16|n.316+31A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|357/362|c.100766-10T>C||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+12223A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|307/312|c.95843-10T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|185/190|c.73571-10T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|306/311|c.93062-10T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|186/191|c.73946-10T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|186/191|c.74147-10T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=117;p3_1000G_AF=0.0233626;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=19919;p3_1000G_EAS_AF=0.0635;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179400586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3,3639;ESP6500_AA_GTC=0,3,1818;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=0.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=14;ESP6500_EA_AC=41,8083;ESP6500_EA_GTC=0,41,4021;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178535859;ESP6500_GTC=0,44,5839;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.74147-10T>C,NM_133432.3:c.73946-10T>C,NM_133378.4:c.93062-10T>C,NM_003319.4:c.73571-10T>C,NM_001267550.1:c.100766-10T>C,NM_001256850.1:c.95843-10T>C;ESP6500_MAF=0.5047,0.0824,0.374;ESP6500_TAC=44,11722;CLINVAR_AF_ESP=0.0037;CLINVAR_AF_EXAC=0.25689;CLINVAR_AF_TGP=0.0234;CLINVAR_ALLELEID=102218;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178535859A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:285224;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=202214630	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,18:39:99:1|0:178535858_GA_G:264,0,538
chr2	178537013	rs55675869;47625	C	T	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.486;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=-1.523;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55675869;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|356/363|c.100096G>A|p.Val33366Ile|100321/109222|100096/107976|33366/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|306/313|c.95173G>A|p.Val31725Ile|95398/104299|95173/103053|31725/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|184/191|c.72901G>A|p.Val24301Ile|73126/82027|72901/80781|24301/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|305/312|c.92392G>A|p.Val30798Ile|92617/101518|92392/100272|30798/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|185/192|c.73276G>A|p.Val24426Ile|73501/82402|73276/81156|24426/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|185/192|c.73477G>A|p.Val24493Ile|73702/82603|73477/81357|24493/27118||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|3/16|n.317-348C>T||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+13377C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=116;p3_1000G_AF=0.0231629;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=17856;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179401740;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=20,3814;ESP6500_AA_GTC=0,20,1897;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=60;ESP6500_EA_AC=171,8087;ESP6500_EA_GTC=1,169,3959;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178537013;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=1,189,5856;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.73477G>A,NM_133432.3:c.73276G>A,NM_133378.4:c.92392G>A,NM_003319.4:c.72901G>A,NM_001267550.1:c.100096G>A,NM_001256850.1:c.95173G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(V24493I),NM_133432.3:p.(V24426I),NM_133378.4:p.(V30798I),NM_003319.4:p.(V24301I),NM_001267550.1:p.(V33366I),NM_001256850.1:p.(V31725I);ESP6500_MAF=2.0707,0.5216,1.5796;ESP6500_PH=probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997,probably-damaging:0.997;ESP6500_TAC=191,11901;CLINVAR_AF_ESP=0.0158;CLINVAR_AF_EXAC=0.02882;CLINVAR_AF_TGP=0.0232;CLINVAR_ALLELEID=56789;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178537013C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26817;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=55675869	GT:AD:DP:GQ:PL	0/1:19,10:29:99:267,0,590
chr2	178538866	rs2303539	G	A	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.12;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=1.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.36;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303539;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|353/362|c.98990-27C>T||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+15230G>A||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|303/312|c.94067-27C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|181/190|c.71795-27C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|302/311|c.91286-27C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|182/191|c.72170-27C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|182/191|c.72371-27C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|5/17|n.816G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=927;p3_1000G_AF=0.185104;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=22097;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179403593;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=117,3675;ESP6500_AA_GTC=2,113,1781;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=1188,7040;ESP6500_EA_GTC=89,1010,3015;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178538866;ESP6500_GTC=91,1123,4796;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.72371-27C>T,NM_133432.3:c.72170-27C>T,NM_133378.4:c.91286-27C>T,NM_003319.4:c.71795-27C>T,NM_001267550.1:c.98990-27C>T,NM_001256850.1:c.94067-27C>T;ESP6500_MAF=14.4385,3.0854,10.8569;ESP6500_TAC=1305,10715	GT:AD:DP:GQ:PL	0/1:44,20:64:99:450,0,1269
chr2	178540059	rs2288325;47594	A	T	866.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.7;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=4.067;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.62;SOR=1.157;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288325;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|5/16|n.1841-48A>T||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|351/362|c.98098+9T>A||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+16423A>T||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|301/312|c.93175+9T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|179/190|c.70903+9T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|300/311|c.90394+9T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|180/191|c.71278+9T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|180/191|c.71479+9T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1165;p3_1000G_AF=0.232628;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=23101;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.1382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179404786;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=541,3339;ESP6500_AA_GTC=39,463,1438;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=131;ESP6500_EA_AC=1214,7076;ESP6500_EA_GTC=93,1028,3024;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178540059;ESP6500_GTC=132,1491,4462;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.71479+9T>A,NM_133432.3:c.71278+9T>A,NM_133378.4:c.90394+9T>A,NM_003319.4:c.70903+9T>A,NM_001267550.1:c.98098+9T>A,NM_001256850.1:c.93175+9T>A;ESP6500_MAF=14.6441,13.9433,14.4207;ESP6500_TAC=1755,10415;CLINVAR_AF_ESP=0.1442;CLINVAR_AF_EXAC=0.18309;CLINVAR_AF_TGP=0.2326;CLINVAR_ALLELEID=56758;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178540059A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26881;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288325	GT:AD:DP:GQ:PL	0/1:61,35:96:99:895,0,1516
chr2	178541276	rs3731750;47590	C	A	1233.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=2.891;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731750;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|350/362|c.97795+6G>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|300/312|c.92872+6G>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|178/190|c.70600+6G>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|299/311|c.90091+6G>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|179/191|c.70975+6G>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|179/191|c.71176+6G>T||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|6/16|n.1904-946C>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+17640C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2527;p3_1000G_AF=0.504593;p3_1000G_AFR_AF=0.5605;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=20236;p3_1000G_EAS_AF=0.7133;p3_1000G_EUR_AF=0.2485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179406003;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1837,1841;ESP6500_AA_GTC=479,879,481;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=3.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=42;ESP6500_EA_AC=1684,6328;ESP6500_EA_GTC=175,1334,2497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178541276;ESP6500_GTC=654,2213,2978;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.71176+6G>T,NM_133432.3:c.70975+6G>T,NM_133378.4:c.90091+6G>T,NM_003319.4:c.70600+6G>T,NM_001267550.1:c.97795+6G>T,NM_001256850.1:c.92872+6G>T;ESP6500_MAF=21.0185,49.9456,30.1198;ESP6500_TAC=3521,8169;CLINVAR_AF_ESP=0.3012;CLINVAR_AF_EXAC=0.38297;CLINVAR_ALLELEID=56754;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178541276C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26795;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3731750	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1262,117,0
chr2	178541464	rs3731749;47586	C	T	979.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.858;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=4.348;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.849;SOR=1.222;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731749;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|350/363|c.97613G>A|p.Arg32538His|97838/109222|97613/107976|32538/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|300/313|c.92690G>A|p.Arg30897His|92915/104299|92690/103053|30897/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|178/191|c.70418G>A|p.Arg23473His|70643/82027|70418/80781|23473/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|299/312|c.89909G>A|p.Arg29970His|90134/101518|89909/100272|29970/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|179/192|c.70793G>A|p.Arg23598His|71018/82402|70793/81156|23598/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|179/192|c.70994G>A|p.Arg23665His|71219/82603|70994/81357|23665/27118||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|6/16|n.1904-758C>T||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+17828C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1048;p3_1000G_AF=0.209265;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=15530;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179406191;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=289,3661;ESP6500_AA_GTC=10,269,1696;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=125;ESP6500_EA_AC=1206,7092;ESP6500_EA_GTC=90,1026,3033;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178541464;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=100,1295,4729;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.70994G>A,NM_133432.3:c.70793G>A,NM_133378.4:c.89909G>A,NM_003319.4:c.70418G>A,NM_001267550.1:c.97613G>A,NM_001256850.1:c.92690G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(R23665H),NM_133432.3:p.(R23598H),NM_133378.4:p.(R29970H),NM_003319.4:p.(R23473H),NM_001267550.1:p.(R32538H),NM_001256850.1:p.(R30897H);ESP6500_MAF=14.5336,7.3165,12.2061;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=1495,10753;CLINVAR_AF_ESP=0.1221;CLINVAR_AF_EXAC=0.17782;CLINVAR_AF_TGP=0.2093;CLINVAR_ALLELEID=56750;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178541464C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26902;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3731749	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1008,0,1041
chr2	178546284	rs72648257;47547	T	C	1168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.475;SOR=0.742;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72648257;dbSNPBuildID=130;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|342/363|c.95047A>G|p.Ser31683Gly|95272/109222|95047/107976|31683/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|292/313|c.90124A>G|p.Ser30042Gly|90349/104299|90124/103053|30042/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|170/191|c.67852A>G|p.Ser22618Gly|68077/82027|67852/80781|22618/26926||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|291/312|c.87343A>G|p.Ser29115Gly|87568/101518|87343/100272|29115/33423||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|171/192|c.68227A>G|p.Ser22743Gly|68452/82402|68227/81156|22743/27051||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|171/192|c.68428A>G|p.Ser22810Gly|68653/82603|68428/81357|22810/27118||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2043+3923T>C||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+22648T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=23533;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179411011;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=20,3890;ESP6500_AA_GTC=0,20,1935;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=206;ESP6500_EA_AC=170,8116;ESP6500_EA_GTC=1,168,3974;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178546284;ESP6500_GS=56,56,56,56,56,56;ESP6500_GTC=1,188,5909;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.68428A>G,NM_133432.3:c.68227A>G,NM_133378.4:c.87343A>G,NM_003319.4:c.67852A>G,NM_001267550.1:c.95047A>G,NM_001256850.1:c.90124A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(S22810G),NM_133432.3:p.(S22743G),NM_133378.4:p.(S29115G),NM_003319.4:p.(S22618G),NM_001267550.1:p.(S31683G),NM_001256850.1:p.(S30042G);ESP6500_MAF=2.0517,0.5115,1.5579;ESP6500_PH=probably-damaging:0.98,probably-damaging:0.98,probably-damaging:0.98,probably-damaging:0.98,probably-damaging:0.98,probably-damaging:0.98;ESP6500_TAC=190,12006;CLINVAR_AF_ESP=0.0156;CLINVAR_AF_EXAC=0.02619;CLINVAR_AF_TGP=0.0224;CLINVAR_ALLELEID=56711;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178546284T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26850;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=72648257	GT:AD:DP:GQ:PL	0/1:59,48:107:99:1197,0,1481
chr2	178546938	rs2288327	A	G	1622.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=3.573;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.183;SOR=0.417;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288327;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2043+4577A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|340/362|c.94523-33T>C||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.446+23302A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|290/312|c.89600-33T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|168/190|c.67328-33T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|289/311|c.86819-33T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|169/191|c.67703-33T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|169/191|c.67904-33T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1640;p3_1000G_AF=0.327476;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=24149;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179411665;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.319;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1007,2777;ESP6500_AA_GTC=135,737,1020;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=1386,6850;ESP6500_EA_GTC=116,1154,2848;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178546938;ESP6500_GTC=251,1891,3868;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.67904-33T>C,NM_133432.3:c.67703-33T>C,NM_133378.4:c.86819-33T>C,NM_003319.4:c.67328-33T>C,NM_001267550.1:c.94523-33T>C,NM_001256850.1:c.89600-33T>C;ESP6500_MAF=16.8286,26.6121,19.9085;ESP6500_TAC=2393,9627	GT:AD:DP:GQ:PL	0/1:52,58:110:99:1651,0,1289
chr2	178548383	rs3731748;47530	G	A	1934.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.94;ClippingRankSum=0;DP=133;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.341;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731748;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|339/363|c.93243C>T|p.Ala31081Ala|93468/109222|93243/107976|31081/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|289/313|c.88320C>T|p.Ala29440Ala|88545/104299|88320/103053|29440/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|167/191|c.66048C>T|p.Ala22016Ala|66273/82027|66048/80781|22016/26926||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|288/312|c.85539C>T|p.Ala28513Ala|85764/101518|85539/100272|28513/33423||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|168/192|c.66423C>T|p.Ala22141Ala|66648/82402|66423/81156|22141/27051||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|168/192|c.66624C>T|p.Ala22208Ala|66849/82603|66624/81357|22208/27118||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2043+6022G>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-22917G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1173;p3_1000G_AF=0.234225;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=23794;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.1382;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179413110;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=563,3493;ESP6500_AA_GTC=40,483,1505;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=2.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=222;ESP6500_EA_AC=1222,7148;ESP6500_EA_GTC=92,1038,3055;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178548383;ESP6500_GTC=132,1521,4560;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.66624C>T,NM_133432.3:c.66423C>T,NM_133378.4:c.85539C>T,NM_003319.4:c.66048C>T,NM_001267550.1:c.93243C>T,NM_001256850.1:c.88320C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(A22208),NM_133432.3:p.(A22141),NM_133378.4:p.(A28513),NM_003319.4:p.(A22016),NM_001267550.1:p.(A31081),NM_001256850.1:p.(A29440);ESP6500_MAF=14.5998,13.8807,14.365;ESP6500_TAC=1785,10641;CLINVAR_AF_ESP=0.1437;CLINVAR_AF_EXAC=0.18404;CLINVAR_AF_TGP=0.2342;CLINVAR_ALLELEID=56694;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178548383G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26914;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3731748	GT:AD:DP:GQ:PL	0/1:60,73:133:99:1963,0,1615
chr2	178549906	rs890578	C	A	834.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.776;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-1.445;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs890578;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2043+7545C>A||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|337/362|c.91853-37G>T||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-21394C>A||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|287/312|c.86930-37G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|165/190|c.64658-37G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|286/311|c.84149-37G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|166/191|c.65033-37G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|166/191|c.65234-37G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1620;p3_1000G_AF=0.323482;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=20619;p3_1000G_EAS_AF=0.63;p3_1000G_EUR_AF=0.171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179414633;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=932,2694;ESP6500_AA_GTC=119,694,1000;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=59;ESP6500_EA_AC=1369,6779;ESP6500_EA_GTC=114,1141,2819;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178549906;ESP6500_GTC=233,1835,3819;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.65234-37G>T,NM_133432.3:c.65033-37G>T,NM_133378.4:c.84149-37G>T,NM_003319.4:c.64658-37G>T,NM_001267550.1:c.91853-37G>T,NM_001256850.1:c.86930-37G>T;ESP6500_MAF=16.8017,25.7033,19.5431;ESP6500_TAC=2301,9473	GT:AD:DP:GQ:PL	0/1:42,35:77:99:863,0,1276
chr2	178549978	rs56145100;47515	A	T	1299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.862;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=10.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.33;ReadPosRankSum=0.44;SOR=0.824;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56145100;dbSNPBuildID=129;ANN=T|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|337/362|c.91852+8T>A||||||,T|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|287/312|c.86929+8T>A||||||,T|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|165/190|c.64657+8T>A||||||,T|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|286/311|c.84148+8T>A||||||,T|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|166/191|c.65032+8T>A||||||,T|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|166/191|c.65233+8T>A||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2043+7617A>T||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-21322A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=20212;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179414705;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=19,3639;ESP6500_AA_GTC=0,19,1810;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=72;ESP6500_EA_AC=160,8002;ESP6500_EA_GTC=1,158,3922;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178549978;ESP6500_GTC=1,177,5732;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.65233+8T>A,NM_133432.3:c.65032+8T>A,NM_133378.4:c.84148+8T>A,NM_003319.4:c.64657+8T>A,NM_001267550.1:c.91852+8T>A,NM_001256850.1:c.86929+8T>A;ESP6500_MAF=1.9603,0.5194,1.5144;ESP6500_TAC=179,11641;CLINVAR_AF_ESP=0.0151;CLINVAR_AF_EXAC=0.02756;CLINVAR_AF_TGP=0.0224;CLINVAR_ALLELEID=56679;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178549978A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26878;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56145100	GT:AD:DP:GQ:PL	0/1:27,48:75:99:1328,0,674
chr2	178556967	rs9808377;47475	A	G	2713.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=1.522;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9808377;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|330/363|c.88187T>C|p.Ile29396Thr|88412/109222|88187/107976|29396/35991||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|280/313|c.83264T>C|p.Ile27755Thr|83489/104299|83264/103053|27755/34350||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|158/191|c.60992T>C|p.Ile20331Thr|61217/82027|60992/80781|20331/26926||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|279/312|c.80483T>C|p.Ile26828Thr|80708/101518|80483/100272|26828/33423||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|159/192|c.61367T>C|p.Ile20456Thr|61592/82402|61367/81156|20456/27051||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|159/192|c.61568T>C|p.Ile20523Thr|61793/82603|61568/81357|20523/27118||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2043+14606A>G||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-14333A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2540;p3_1000G_AF=0.507188;p3_1000G_AFR_AF=0.5666;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=20211;p3_1000G_EAS_AF=0.7153;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179421694;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2066,1878;ESP6500_AA_GTC=556,954,462;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-2.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=94;ESP6500_EA_AC=1831,6469;ESP6500_EA_GTC=187,1457,2506;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178556967;ESP6500_GS=89,89,89,89,89,89;ESP6500_GTC=743,2411,2968;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.61568T>C,NM_133432.3:c.61367T>C,NM_133378.4:c.80483T>C,NM_003319.4:c.60992T>C,NM_001267550.1:c.88187T>C,NM_001256850.1:c.83264T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(I20523T),NM_133432.3:p.(I20456T),NM_133378.4:p.(I26828T),NM_003319.4:p.(I20331T),NM_001267550.1:p.(I29396T),NM_001256850.1:p.(I27755T);ESP6500_MAF=22.0602,47.6166,31.8278;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3897,8347;CLINVAR_AF_ESP=0.3183;CLINVAR_AF_EXAC=0.35060;CLINVAR_ALLELEID=56639;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178556967A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26917;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9808377	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2742,237,0
chr2	178558372	rs12621078;47460	A	G	1031.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.681;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=1.57;SOR=0.788;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12621078;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|327/363|c.87087T>C|p.Leu29029Leu|87312/109222|87087/107976|29029/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|277/313|c.82164T>C|p.Leu27388Leu|82389/104299|82164/103053|27388/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|155/191|c.59892T>C|p.Leu19964Leu|60117/82027|59892/80781|19964/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|276/312|c.79383T>C|p.Leu26461Leu|79608/101518|79383/100272|26461/33423||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|156/192|c.60267T>C|p.Leu20089Leu|60492/82402|60267/81156|20089/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|156/192|c.60468T>C|p.Leu20156Leu|60693/82603|60468/81357|20156/27118||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2043+16011A>G||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-12928A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=20206;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179423099;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=19,3695;ESP6500_AA_GTC=0,19,1838;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-5.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=171,8045;ESP6500_EA_GTC=1,169,3938;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178558372;ESP6500_GTC=1,188,5776;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.60468T>C,NM_133432.3:c.60267T>C,NM_133378.4:c.79383T>C,NM_003319.4:c.59892T>C,NM_001267550.1:c.87087T>C,NM_001256850.1:c.82164T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(L20156),NM_133432.3:p.(L20089),NM_133378.4:p.(L26461),NM_003319.4:p.(L19964),NM_001267550.1:p.(L29029),NM_001256850.1:p.(L27388);ESP6500_MAF=2.0813,0.5116,1.5926;ESP6500_TAC=190,11740;CLINVAR_AF_ESP=0.0159;CLINVAR_AF_EXAC=0.02669;CLINVAR_AF_TGP=0.0224;CLINVAR_ALLELEID=56624;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178558372A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26931;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12621078	GT:AD:DP:GQ:PL	0/1:22,42:64:99:1060,0,568
chr2	178562459	rs2366751;47429	A	G	3598.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=114;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=0.728;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2366751;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.83673T>C|p.Gly27891Gly|83898/109222|83673/107976|27891/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.78750T>C|p.Gly26250Gly|78975/104299|78750/103053|26250/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.56478T>C|p.Gly18826Gly|56703/82027|56478/80781|18826/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.75969T>C|p.Gly25323Gly|76194/101518|75969/100272|25323/33423||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.56853T>C|p.Gly18951Gly|57078/82402|56853/81156|18951/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.57054T>C|p.Gly19018Gly|57279/82603|57054/81357|19018/27118||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2043+20098A>G||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-8841A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2548;p3_1000G_AF=0.508786;p3_1000G_AFR_AF=0.5673;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=21523;p3_1000G_EAS_AF=0.7153;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179427186;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2019,1847;ESP6500_AA_GTC=546,927,460;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=67;ESP6500_EA_AC=1847,6443;ESP6500_EA_GTC=193,1461,2491;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178562459;ESP6500_GTC=739,2388,2951;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.57054T>C,NM_133432.3:c.56853T>C,NM_133378.4:c.75969T>C,NM_003319.4:c.56478T>C,NM_001267550.1:c.83673T>C,NM_001256850.1:c.78750T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(G19018),NM_133432.3:p.(G18951),NM_133378.4:p.(G25323),NM_003319.4:p.(G18826),NM_001267550.1:p.(G27891),NM_001256850.1:p.(G26250);ESP6500_MAF=22.2799,47.7755,31.8032;ESP6500_TAC=3866,8290;CLINVAR_AF_ESP=0.3180;CLINVAR_AF_EXAC=0.35130;CLINVAR_ALLELEID=56593;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178562459A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26934;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2366751	GT:AD:DP:GQ:PL	1/1:0,114:114:99:3627,342,0
chr2	178562809	rs3829746;47425	T	C	2448.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=0.746;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3829746;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.83323A>G|p.Ile27775Val|83548/109222|83323/107976|27775/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.78400A>G|p.Ile26134Val|78625/104299|78400/103053|26134/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.56128A>G|p.Ile18710Val|56353/82027|56128/80781|18710/26926||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.75619A>G|p.Ile25207Val|75844/101518|75619/100272|25207/33423||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.56503A>G|p.Ile18835Val|56728/82402|56503/81156|18835/27051||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.56704A>G|p.Ile18902Val|56929/82603|56704/81357|18902/27118||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-19763T>C||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-8491T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2546;p3_1000G_AF=0.508387;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=21726;p3_1000G_EAS_AF=0.7153;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179427536;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2013,1773;ESP6500_AA_GTC=546,921,426;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=60;ESP6500_EA_AC=1841,6417;ESP6500_EA_GTC=193,1455,2481;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178562809;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=739,2376,2907;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.56704A>G,NM_133432.3:c.56503A>G,NM_133378.4:c.75619A>G,NM_003319.4:c.56128A>G,NM_001267550.1:c.83323A>G,NM_001256850.1:c.78400A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(I18902V),NM_133432.3:p.(I18835V),NM_133378.4:p.(I25207V),NM_003319.4:p.(I18710V),NM_001267550.1:p.(I27775V),NM_001256850.1:p.(I26134V);ESP6500_MAF=22.2935,46.8304,31.9993;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3854,8190;CLINVAR_AF_ESP=0.3200;CLINVAR_AF_EXAC=0.35359;CLINVAR_ALLELEID=56589;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178562809T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26940;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3829746	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2477,227,0
chr2	178564277	rs56214710;47402	G	A	1273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.239;ClippingRankSum=0;DP=98;ExcessHet=3.0103;FS=1.636;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.152;SOR=0.711;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56214710;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.81855C>T|p.Ile27285Ile|82080/109222|81855/107976|27285/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.76932C>T|p.Ile25644Ile|77157/104299|76932/103053|25644/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.54660C>T|p.Ile18220Ile|54885/82027|54660/80781|18220/26926||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.74151C>T|p.Ile24717Ile|74376/101518|74151/100272|24717/33423||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.55035C>T|p.Ile18345Ile|55260/82402|55035/81156|18345/27051||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.55236C>T|p.Ile18412Ile|55461/82603|55236/81357|18412/27118||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-18295G>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-7023G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=111;p3_1000G_AF=0.0221645;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=21282;p3_1000G_EAS_AF=0.0585;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179429004;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=20,3820;ESP6500_AA_GTC=0,20,1900;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-1.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=146;ESP6500_EA_AC=170,8092;ESP6500_EA_GTC=1,168,3962;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178564277;ESP6500_GTC=1,188,5862;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.55236C>T,NM_133432.3:c.55035C>T,NM_133378.4:c.74151C>T,NM_003319.4:c.54660C>T,NM_001267550.1:c.81855C>T,NM_001256850.1:c.76932C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(I18412),NM_133432.3:p.(I18345),NM_133378.4:p.(I24717),NM_003319.4:p.(I18220),NM_001267550.1:p.(I27285),NM_001256850.1:p.(I25644);ESP6500_MAF=2.0576,0.5208,1.57;ESP6500_TAC=190,11912;CLINVAR_AF_ESP=0.0157;CLINVAR_AF_EXAC=0.02591;CLINVAR_AF_TGP=0.0222;CLINVAR_ALLELEID=56567;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178564277G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26956;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56214710	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1302,0,1304
chr2	178565333	rs3813247;47392	G	T	968.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.015;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=12.734;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.555;SOR=1.1;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813247;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.80799C>A|p.Thr26933Thr|81024/109222|80799/107976|26933/35991||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.75876C>A|p.Thr25292Thr|76101/104299|75876/103053|25292/34350||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.53604C>A|p.Thr17868Thr|53829/82027|53604/80781|17868/26926||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.73095C>A|p.Thr24365Thr|73320/101518|73095/100272|24365/33423||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.53979C>A|p.Thr17993Thr|54204/82402|53979/81156|17993/27051||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.54180C>A|p.Thr18060Thr|54405/82603|54180/81357|18060/27118||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-17239G>T||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-5967G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=111;p3_1000G_AF=0.0221645;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=21529;p3_1000G_EAS_AF=0.0595;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179430060;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=21,3701;ESP6500_AA_GTC=0,21,1840;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-8.6;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=155;ESP6500_EA_AC=169,8035;ESP6500_EA_GTC=1,167,3934;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178565333;ESP6500_GTC=1,188,5774;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.54180C>A,NM_133432.3:c.53979C>A,NM_133378.4:c.73095C>A,NM_003319.4:c.53604C>A,NM_001267550.1:c.80799C>A,NM_001256850.1:c.75876C>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(T18060),NM_133432.3:p.(T17993),NM_133378.4:p.(T24365),NM_003319.4:p.(T17868),NM_001267550.1:p.(T26933),NM_001256850.1:p.(T25292);ESP6500_MAF=2.06,0.5642,1.5932;ESP6500_TAC=190,11736;CLINVAR_AF_ESP=0.0159;CLINVAR_AF_EXAC=0.02602;CLINVAR_AF_TGP=0.0222;CLINVAR_ALLELEID=56557;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178565333G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26986;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3813247	GT:AD:DP:GQ:PL	0/1:53,37:90:99:997,0,1607
chr2	178566270	rs3731746;47382	G	A	1127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.682;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.194;SOR=0.652;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731746;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.79862C>T|p.Thr26621Met|80087/109222|79862/107976|26621/35991||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.74939C>T|p.Thr24980Met|75164/104299|74939/103053|24980/34350||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.52667C>T|p.Thr17556Met|52892/82027|52667/80781|17556/26926||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.72158C>T|p.Thr24053Met|72383/101518|72158/100272|24053/33423||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.53042C>T|p.Thr17681Met|53267/82402|53042/81156|17681/27051||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.53243C>T|p.Thr17748Met|53468/82603|53243/81357|17748/27118||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-16302G>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-5030G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1714;p3_1000G_AF=0.342252;p3_1000G_AFR_AF=0.3442;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=22404;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179430997;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1257,2583;ESP6500_AA_GTC=208,841,871;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=157;ESP6500_EA_AC=1385,6915;ESP6500_EA_GTC=116,1153,2881;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178566270;ESP6500_GS=81,81,81,81,81,81;ESP6500_GTC=324,1994,3752;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.53243C>T,NM_133432.3:c.53042C>T,NM_133378.4:c.72158C>T,NM_003319.4:c.52667C>T,NM_001267550.1:c.79862C>T,NM_001256850.1:c.74939C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(T17748M),NM_133432.3:p.(T17681M),NM_133378.4:p.(T24053M),NM_003319.4:p.(T17556M),NM_001267550.1:p.(T26621M),NM_001256850.1:p.(T24980M);ESP6500_MAF=16.6867,32.7344,21.7628;ESP6500_PH=possibly-damaging:0.914,possibly-damaging:0.914,possibly-damaging:0.914,possibly-damaging:0.914,possibly-damaging:0.914,possibly-damaging:0.914;ESP6500_TAC=2642,9498;CLINVAR_AF_ESP=0.2176;CLINVAR_AF_EXAC=0.23431;CLINVAR_AF_TGP=0.3423;CLINVAR_ALLELEID=56547;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178566270G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26954;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3731746	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1156,0,1534
chr2	178566867	rs3731745;47373	A	G	1068.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-1.326;SOR=0.707;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731745;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.79265T>C|p.Ile26422Thr|79490/109222|79265/107976|26422/35991||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.74342T>C|p.Ile24781Thr|74567/104299|74342/103053|24781/34350||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.52070T>C|p.Ile17357Thr|52295/82027|52070/80781|17357/26926||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.71561T>C|p.Ile23854Thr|71786/101518|71561/100272|23854/33423||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.52445T>C|p.Ile17482Thr|52670/82402|52445/81156|17482/27051||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.52646T>C|p.Ile17549Thr|52871/82603|52646/81357|17549/27118||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-15705A>G||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-4433A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=16962;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179431594;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=21,3733;ESP6500_AA_GTC=0,21,1856;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=62;ESP6500_EA_AC=170,8044;ESP6500_EA_GTC=1,168,3938;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178566867;ESP6500_GS=89,89,89,89,89,89;ESP6500_GTC=1,189,5794;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.52646T>C,NM_133432.3:c.52445T>C,NM_133378.4:c.71561T>C,NM_003319.4:c.52070T>C,NM_001267550.1:c.79265T>C,NM_001256850.1:c.74342T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(I17549T),NM_133432.3:p.(I17482T),NM_133378.4:p.(I23854T),NM_003319.4:p.(I17357T),NM_001267550.1:p.(I26422T),NM_001256850.1:p.(I24781T);ESP6500_MAF=2.0696,0.5594,1.5959;ESP6500_PH=probably-damaging:0.991,probably-damaging:0.991,probably-damaging:0.991,probably-damaging:0.991,probably-damaging:0.991,probably-damaging:0.991;ESP6500_TAC=191,11777;CLINVAR_AF_ESP=0.0160;CLINVAR_AF_EXAC=0.02626;CLINVAR_AF_TGP=0.0224;CLINVAR_ALLELEID=56538;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178566867A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27007;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3731745	GT:AD:DP:GQ:PL	0/1:59,41:100:99:1097,0,1637
chr2	178568494	rs56018860;47359	T	C	851.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=1.912;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-2.837;SOR=0.777;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56018860;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.77638A>G|p.Thr25880Ala|77863/109222|77638/107976|25880/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.72715A>G|p.Thr24239Ala|72940/104299|72715/103053|24239/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.50443A>G|p.Thr16815Ala|50668/82027|50443/80781|16815/26926||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.69934A>G|p.Thr23312Ala|70159/101518|69934/100272|23312/33423||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.50818A>G|p.Thr16940Ala|51043/82402|50818/81156|16940/27051||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.51019A>G|p.Thr17007Ala|51244/82603|51019/81357|17007/27118||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-14078T>C||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-2806T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=23267;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179433221;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=22,3844;ESP6500_AA_GTC=0,22,1911;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=186;ESP6500_EA_AC=173,8121;ESP6500_EA_GTC=1,171,3975;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178568494;ESP6500_GS=58,58,58,58,58,58;ESP6500_GTC=1,193,5886;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.51019A>G,NM_133432.3:c.50818A>G,NM_133378.4:c.69934A>G,NM_003319.4:c.50443A>G,NM_001267550.1:c.77638A>G,NM_001256850.1:c.72715A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(T17007A),NM_133432.3:p.(T16940A),NM_133378.4:p.(T23312A),NM_003319.4:p.(T16815A),NM_001267550.1:p.(T25880A),NM_001256850.1:p.(T24239A);ESP6500_MAF=2.0858,0.5691,1.6036;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=195,11965;CLINVAR_AF_ESP=0.0160;CLINVAR_AF_EXAC=0.02618;CLINVAR_AF_TGP=0.0224;CLINVAR_ALLELEID=56524;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178568494T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27015;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56018860	GT:AD:DP:GQ:PL	0/1:43,33:76:99:880,0,1194
chr2	178568853	rs3813246;47356	T	C	2306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.55;ClippingRankSum=0;DP=169;ExcessHet=3.0103;FS=0.572;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.317;SOR=0.79;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813246;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.77279A>G|p.Asn25760Ser|77504/109222|77279/107976|25760/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.72356A>G|p.Asn24119Ser|72581/104299|72356/103053|24119/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.50084A>G|p.Asn16695Ser|50309/82027|50084/80781|16695/26926||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.69575A>G|p.Asn23192Ser|69800/101518|69575/100272|23192/33423||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.50459A>G|p.Asn16820Ser|50684/82402|50459/81156|16820/27051||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.50660A>G|p.Asn16887Ser|50885/82603|50660/81357|16887/27118||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-13719T>C||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-2447T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=24508;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179433580;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=21,3797;ESP6500_AA_GTC=0,21,1888;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=108;ESP6500_EA_AC=170,8076;ESP6500_EA_GTC=1,168,3954;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178568853;ESP6500_GS=46,46,46,46,46,46;ESP6500_GTC=1,189,5842;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.50660A>G,NM_133432.3:c.50459A>G,NM_133378.4:c.69575A>G,NM_003319.4:c.50084A>G,NM_001267550.1:c.77279A>G,NM_001256850.1:c.72356A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(N16887S),NM_133432.3:p.(N16820S),NM_133378.4:p.(N23192S),NM_003319.4:p.(N16695S),NM_001267550.1:p.(N25760S),NM_001256850.1:p.(N24119S);ESP6500_MAF=2.0616,0.55,1.5832;ESP6500_PH=benign:0.374,benign:0.374,benign:0.374,benign:0.374,benign:0.374,benign:0.374;ESP6500_TAC=191,11873;CLINVAR_AF_ESP=0.0158;CLINVAR_AF_EXAC=0.02616;CLINVAR_AF_TGP=0.0224;CLINVAR_ALLELEID=56521;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178568853T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27030;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3813246	GT:AD:DP:GQ:PL	0/1:88,81:169:99:2335,0,2221
chr2	178569412	rs3813245;47349	A	G	978.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.62;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.203;SOR=0.644;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3813245;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.76720T>C|p.Tyr25574His|76945/109222|76720/107976|25574/35991||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.71797T>C|p.Tyr23933His|72022/104299|71797/103053|23933/34350||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.49525T>C|p.Tyr16509His|49750/82027|49525/80781|16509/26926||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.69016T>C|p.Tyr23006His|69241/101518|69016/100272|23006/33423||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.49900T>C|p.Tyr16634His|50125/82402|49900/81156|16634/27051||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.50101T>C|p.Tyr16701His|50326/82603|50101/81357|16701/27118||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-13160A>G||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-1888A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=21659;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179434139;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=20,3790;ESP6500_AA_GTC=0,20,1885;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=91;ESP6500_EA_AC=170,8058;ESP6500_EA_GTC=1,168,3945;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178569412;ESP6500_GS=83,83,83,83,83,83;ESP6500_GTC=1,188,5830;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.50101T>C,NM_133432.3:c.49900T>C,NM_133378.4:c.69016T>C,NM_003319.4:c.49525T>C,NM_001267550.1:c.76720T>C,NM_001256850.1:c.71797T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(Y16701H),NM_133432.3:p.(Y16634H),NM_133378.4:p.(Y23006H),NM_003319.4:p.(Y16509H),NM_001267550.1:p.(Y25574H),NM_001256850.1:p.(Y23933H);ESP6500_MAF=2.0661,0.5249,1.5783;ESP6500_PH=probably-damaging:0.966,probably-damaging:0.966,probably-damaging:0.966,probably-damaging:0.966,probably-damaging:0.966,probably-damaging:0.966;ESP6500_TAC=190,11848;CLINVAR_AF_ESP=0.0158;CLINVAR_AF_EXAC=0.02621;CLINVAR_AF_TGP=0.0224;CLINVAR_ALLELEID=56514;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178569412A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27052;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3813245	GT:AD:DP:GQ:PL	0/1:34,31:65:99:1007,0,953
chr2	178571293	rs744426;47329	G	A	1213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.856;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=2.421;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.431;SOR=1.001;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs744426;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|326/363|c.74839C>T|p.Arg24947Cys|75064/109222|74839/107976|24947/35991||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|276/313|c.69916C>T|p.Arg23306Cys|70141/104299|69916/103053|23306/34350||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|154/191|c.47644C>T|p.Arg15882Cys|47869/82027|47644/80781|15882/26926||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|275/312|c.67135C>T|p.Arg22379Cys|67360/101518|67135/100272|22379/33423||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|155/192|c.48019C>T|p.Arg16007Cys|48244/82402|48019/81156|16007/27051||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|155/192|c.48220C>T|p.Arg16074Cys|48445/82603|48220/81357|16074/27118||,A|splice_region_variant&intron_variant|LOW|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|1/6|n.447-7G>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-11279G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1042;p3_1000G_AF=0.208067;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=23224;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.1372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179436020;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=288,3574;ESP6500_AA_GTC=10,268,1653;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=120;ESP6500_EA_AC=1195,7091;ESP6500_EA_GTC=90,1015,3038;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178571293;ESP6500_GS=180,180,180,180,180,180;ESP6500_GTC=100,1283,4691;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.48220C>T,NM_133432.3:c.48019C>T,NM_133378.4:c.67135C>T,NM_003319.4:c.47644C>T,NM_001267550.1:c.74839C>T,NM_001256850.1:c.69916C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(R16074C),NM_133432.3:p.(R16007C),NM_133378.4:p.(R22379C),NM_003319.4:p.(R15882C),NM_001267550.1:p.(R24947C),NM_001256850.1:p.(R23306C);ESP6500_MAF=14.4219,7.4573,12.2078;ESP6500_PH=probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=1483,10665;CLINVAR_AF_ESP=0.1221;CLINVAR_AF_EXAC=0.17456;CLINVAR_AF_TGP=0.2081;CLINVAR_ALLELEID=56494;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178571293G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26975;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=744426	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1242,0,1865
chr2	178578490	rs3769864	T	G	99.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3769864;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-4082T>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|321/362|c.68329+121A>C||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+7041T>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|271/312|c.63406+121A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|149/190|c.41134+121A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|270/311|c.60625+121A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|150/191|c.41509+121A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|150/191|c.41710+121A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2565;p3_1000G_AF=0.512181;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=17078;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.2545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179443217;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:127,9,0
chr2	178579410	rs2288571;137804	A	G	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.44;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=6.301;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.378;SOR=2.133;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288571;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-3162A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|319/362|c.67637-17T>C||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+7961A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|269/312|c.62714-17T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|147/190|c.40442-17T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|268/311|c.59933-17T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|148/191|c.40817-17T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|148/191|c.41018-17T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1740;p3_1000G_AF=0.347444;p3_1000G_AFR_AF=0.3517;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=20771;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179444137;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1231,2435;ESP6500_AA_GTC=212,807,814;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=1374,6768;ESP6500_EA_GTC=118,1138,2815;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178579410;ESP6500_GTC=330,1945,3629;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.41018-17T>C,NM_133432.3:c.40817-17T>C,NM_133378.4:c.59933-17T>C,NM_003319.4:c.40442-17T>C,NM_001267550.1:c.67637-17T>C,NM_001256850.1:c.62714-17T>C;ESP6500_MAF=16.8755,33.5788,22.0613;ESP6500_TAC=2605,9203;CLINVAR_AF_ESP=0.2206;CLINVAR_AF_EXAC=0.23876;CLINVAR_AF_TGP=0.3474;CLINVAR_ALLELEID=141507;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178579410A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288571	GT:AD:DP:GQ:PL	0/1:19,10:29:99:331,0,529
chr2	178579562	rs2288570;47255	A	G	1054.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.165;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.492;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=0.748;SOR=0.361;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288570;dbSNPBuildID=100;ANN=G|splice_region_variant&synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|269/313|c.62712T>C|p.Val20904Val|62937/104299|62712/103053|20904/34350||,G|splice_region_variant&synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|147/191|c.40440T>C|p.Val13480Val|40665/82027|40440/80781|13480/26926||,G|splice_region_variant&synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|268/312|c.59931T>C|p.Val19977Val|60156/101518|59931/100272|19977/33423||,G|splice_region_variant&synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|148/192|c.40815T>C|p.Val13605Val|41040/82402|40815/81156|13605/27051||,G|splice_region_variant&synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|148/192|c.41016T>C|p.Val13672Val|41241/82603|41016/81357|13672/27118||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|319/363|c.67635T>C|p.Val22545Val|67860/109222|67635/107976|22545/35991||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-3010A>G||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+8113A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=142;p3_1000G_AF=0.0283546;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=21779;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179444289;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=24,3896;ESP6500_AA_GTC=0,24,1936;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=163;ESP6500_EA_AC=187,8107;ESP6500_EA_GTC=1,185,3961;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:coding-synonymous-near-splice,NM_133432.3:coding-synonymous-near-splice,NM_133378.4:coding-synonymous-near-splice,NM_003319.4:coding-synonymous-near-splice,NM_001267550.1:coding-synonymous-near-splice,NM_001256850.1:coding-synonymous-near-splice;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178579562;ESP6500_GTC=1,209,5897;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.41016T>C,NM_133432.3:c.40815T>C,NM_133378.4:c.59931T>C,NM_003319.4:c.40440T>C,NM_001267550.1:c.67635T>C,NM_001256850.1:c.62712T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(V13672),NM_133432.3:p.(V13605),NM_133378.4:p.(V19977),NM_003319.4:p.(V13480),NM_001267550.1:p.(V22545),NM_001256850.1:p.(V20904);ESP6500_MAF=2.2546,0.6122,1.7275;ESP6500_TAC=211,12003;CLINVAR_AF_ESP=0.0173;CLINVAR_AF_EXAC=0.03055;CLINVAR_AF_TGP=0.0284;CLINVAR_ALLELEID=56420;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178579562A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27096;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288570	GT:AD:DP:GQ:PL	0/1:25,41:66:99:1083,0,626
chr2	178579899	rs72646874	A	C	1647.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.156;ClippingRankSum=0;DP=112;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.522;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72646874;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-2673A>C||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|318/362|c.67348+40T>G||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+8450A>C||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|268/312|c.62425+40T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|146/190|c.40153+40T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|267/311|c.59644+40T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|147/191|c.40528+40T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|147/191|c.40729+40T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=112;p3_1000G_AF=0.0223642;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=23425;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179444626;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=19,3779;ESP6500_AA_GTC=0,19,1880;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=100;ESP6500_EA_AC=170,8038;ESP6500_EA_GTC=1,168,3935;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178579899;ESP6500_GTC=1,187,5815;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.40729+40T>G,NM_133432.3:c.40528+40T>G,NM_133378.4:c.59644+40T>G,NM_003319.4:c.40153+40T>G,NM_001267550.1:c.67348+40T>G,NM_001256850.1:c.62425+40T>G;ESP6500_MAF=2.0712,0.5003,1.5742;ESP6500_TAC=189,11817	GT:AD:DP:GQ:PL	0/1:50,62:112:99:1676,0,1405
chr2	178580041	rs4145333;47250	C	G	3630.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.62;SOR=0.936;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4145333;dbSNPBuildID=110;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|318/363|c.67246G>C|p.Ala22416Pro|67471/109222|67246/107976|22416/35991||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|268/313|c.62323G>C|p.Ala20775Pro|62548/104299|62323/103053|20775/34350||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|146/191|c.40051G>C|p.Ala13351Pro|40276/82027|40051/80781|13351/26926||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|267/312|c.59542G>C|p.Ala19848Pro|59767/101518|59542/100272|19848/33423||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|147/192|c.40426G>C|p.Ala13476Pro|40651/82402|40426/81156|13476/27051||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|147/192|c.40627G>C|p.Ala13543Pro|40852/82603|40627/81357|13543/27118||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-2531C>G||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+8592C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4981;p3_1000G_AF=0.994609;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19917;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179444768;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3778,52;ESP6500_AA_GTC=1863,52,0;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=162;ESP6500_EA_AC=8261,1;ESP6500_EA_GTC=4130,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178580041;ESP6500_GS=27,27,27,27,27,27;ESP6500_GTC=5993,53,0;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.40627G>C,NM_133432.3:c.40426G>C,NM_133378.4:c.59542G>C,NM_003319.4:c.40051G>C,NM_001267550.1:c.67246G>C,NM_001256850.1:c.62323G>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(A13543P),NM_133432.3:p.(A13476P),NM_133378.4:p.(A19848P),NM_003319.4:p.(A13351P),NM_001267550.1:p.(A22416P),NM_001256850.1:p.(A20775P);ESP6500_MAF=0.0121,1.3577,0.4383;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12039,53;CLINVAR_ALLELEID=56415;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178580041C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26820;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4145333	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3659,324,0
chr2	178580212	rs2303838;47247	C	T	687.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.103;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-1.496;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303838;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|318/363|c.67075G>A|p.Val22359Ile|67300/109222|67075/107976|22359/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|268/313|c.62152G>A|p.Val20718Ile|62377/104299|62152/103053|20718/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|146/191|c.39880G>A|p.Val13294Ile|40105/82027|39880/80781|13294/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|267/312|c.59371G>A|p.Val19791Ile|59596/101518|59371/100272|19791/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|147/192|c.40255G>A|p.Val13419Ile|40480/82402|40255/81156|13419/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|147/192|c.40456G>A|p.Val13486Ile|40681/82603|40456/81357|13486/27118||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|7/16|n.2044-2360C>T||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+8763C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1759;p3_1000G_AF=0.351238;p3_1000G_AFR_AF=0.3434;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=20260;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.1849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179444939;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1207,2467;ESP6500_AA_GTC=202,803,832;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=2.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=1445,6723;ESP6500_EA_GTC=128,1189,2767;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178580212;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=330,1992,3599;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.40456G>A,NM_133432.3:c.40255G>A,NM_133378.4:c.59371G>A,NM_003319.4:c.39880G>A,NM_001267550.1:c.67075G>A,NM_001256850.1:c.62152G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(V13486I),NM_133432.3:p.(V13419I),NM_133378.4:p.(V19791I),NM_003319.4:p.(V13294I),NM_001267550.1:p.(V22359I),NM_001256850.1:p.(V20718I);ESP6500_MAF=17.691,32.8525,22.3949;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003,benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=2652,9190;CLINVAR_AF_ESP=0.2240;CLINVAR_AF_EXAC=0.24199;CLINVAR_AF_TGP=0.3512;CLINVAR_ALLELEID=56412;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178580212C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27005;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303838	GT:AD:DP:GQ:PL	0/1:19,25:44:99:716,0,598
chr2	178583121	rs4894029;47227	T	C	1915.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4894029;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|313/363|c.65682A>G|p.Thr21894Thr|65907/109222|65682/107976|21894/35991||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|263/313|c.60759A>G|p.Thr20253Thr|60984/104299|60759/103053|20253/34350||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|141/191|c.38487A>G|p.Thr12829Thr|38712/82027|38487/80781|12829/26926||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|262/312|c.57978A>G|p.Thr19326Thr|58203/101518|57978/100272|19326/33423||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|142/192|c.38862A>G|p.Thr12954Thr|39087/82402|38862/81156|12954/27051||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|142/192|c.39063A>G|p.Thr13021Thr|39288/82603|39063/81357|13021/27118||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+11672T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|9/17|n.2309T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2573;p3_1000G_AF=0.513778;p3_1000G_AFR_AF=0.5749;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=18418;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.2555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179447848;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2050,1812;ESP6500_AA_GTC=558,934,439;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-6.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=61;ESP6500_EA_AC=1860,6430;ESP6500_EA_GTC=195,1470,2480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178583121;ESP6500_GTC=753,2404,2919;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.39063A>G,NM_133432.3:c.38862A>G,NM_133378.4:c.57978A>G,NM_003319.4:c.38487A>G,NM_001267550.1:c.65682A>G,NM_001256850.1:c.60759A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(T13021),NM_133432.3:p.(T12954),NM_133378.4:p.(T19326),NM_003319.4:p.(T12829),NM_001267550.1:p.(T21894),NM_001256850.1:p.(T20253);ESP6500_MAF=22.4367,46.9187,32.1758;ESP6500_TAC=3910,8242;CLINVAR_AF_ESP=0.3218;CLINVAR_AF_EXAC=0.35880;CLINVAR_ALLELEID=56392;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178583121T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27017;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4894029	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1944,182,0
chr2	178583588	rs72646865;137800	A	C	1313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.608;ClippingRankSum=0;DP=114;ExcessHet=3.0103;FS=8.812;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.146;SOR=1.577;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72646865;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|312/362|c.65575+19T>G||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+12139A>C||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|262/312|c.60652+19T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|140/190|c.38380+19T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|261/311|c.57871+19T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|141/191|c.38755+19T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|141/191|c.38956+19T>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|10/17|n.2434A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=196;p3_1000G_AF=0.0391374;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=19389;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179448315;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=147,3577;ESP6500_AA_GTC=4,139,1719;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=54;ESP6500_EA_AC=186,8012;ESP6500_EA_GTC=1,184,3914;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178583588;ESP6500_GTC=5,323,5633;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.38956+19T>G,NM_133432.3:c.38755+19T>G,NM_133378.4:c.57871+19T>G,NM_003319.4:c.38380+19T>G,NM_001267550.1:c.65575+19T>G,NM_001256850.1:c.60652+19T>G;ESP6500_MAF=2.2688,3.9474,2.7932;ESP6500_TAC=333,11589;CLINVAR_AF_ESP=0.0279;CLINVAR_AF_EXAC=0.04726;CLINVAR_AF_TGP=0.0391;CLINVAR_ALLELEID=141503;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178583588A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=72646865	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1342,0,1790
chr2	178584184	rs16866400	G	A	404.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16866400;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|10/16|n.2767+263G>A||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|311/362|c.65275+92C>T||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.596+12735G>A||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|261/312|c.60352+92C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|139/190|c.38080+92C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|260/311|c.57571+92C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|140/191|c.38455+92C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|140/191|c.38656+92C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1790;p3_1000G_AF=0.357428;p3_1000G_AFR_AF=0.2625;p3_1000G_AMR_AF=0.232;p3_1000G_AN=5008;p3_1000G_DP=20639;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.2147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179448911;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:433,36,0
chr2	178586693	rs2042996;47209	G	A	1479.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2042996;dbSNPBuildID=94;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|308/363|c.64208C>T|p.Thr21403Ile|64433/109222|64208/107976|21403/35991||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|258/313|c.59285C>T|p.Thr19762Ile|59510/104299|59285/103053|19762/34350||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|136/191|c.37013C>T|p.Thr12338Ile|37238/82027|37013/80781|12338/26926||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|257/312|c.56504C>T|p.Thr18835Ile|56729/101518|56504/100272|18835/33423||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|137/192|c.37388C>T|p.Thr12463Ile|37613/82402|37388/81156|12463/27051||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|137/192|c.37589C>T|p.Thr12530Ile|37814/82603|37589/81357|12530/27118||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|11/16|n.3188+1700G>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.597-10903G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2542;p3_1000G_AF=0.507588;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=19158;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.2485;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179451420;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2009,1945;ESP6500_AA_GTC=527,955,495;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=6.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=181;ESP6500_EA_AC=1837,6525;ESP6500_EA_GTC=187,1463,2531;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178586693;ESP6500_GS=89,89,89,89,89,89;ESP6500_GTC=714,2418,3026;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.37589C>T,NM_133432.3:c.37388C>T,NM_133378.4:c.56504C>T,NM_003319.4:c.37013C>T,NM_001267550.1:c.64208C>T,NM_001256850.1:c.59285C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(T12530I),NM_133432.3:p.(T12463I),NM_133378.4:p.(T18835I),NM_003319.4:p.(T12338I),NM_001267550.1:p.(T21403I),NM_001256850.1:p.(T19762I);ESP6500_MAF=21.9684,49.1907,31.2277;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3846,8470;CLINVAR_AF_ESP=0.3123;CLINVAR_AF_EXAC=0.35089;CLINVAR_ALLELEID=56374;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178586693G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27032;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2042996	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1508,150,0
chr2	178589667	rs1560221;47179	A	G	3639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=111;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=0.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1560221;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|304/363|c.62058T>C|p.Tyr20686Tyr|62283/109222|62058/107976|20686/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|254/313|c.57135T>C|p.Tyr19045Tyr|57360/104299|57135/103053|19045/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|132/191|c.34863T>C|p.Tyr11621Tyr|35088/82027|34863/80781|11621/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|253/312|c.54354T>C|p.Tyr18118Tyr|54579/101518|54354/100272|18118/33423||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|133/192|c.35238T>C|p.Tyr11746Tyr|35463/82402|35238/81156|11746/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|133/192|c.35439T>C|p.Tyr11813Tyr|35664/82603|35439/81357|11813/27118||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|11/16|n.3189-1472A>G||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.597-7929A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2566;p3_1000G_AF=0.51238;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=22023;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179454394;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5583;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2027,1825;ESP6500_AA_GTC=546,935,445;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=189;ESP6500_EA_AC=1858,6404;ESP6500_EA_GTC=196,1466,2469;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178589667;ESP6500_GTC=742,2401,2914;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.35439T>C,NM_133432.3:c.35238T>C,NM_133378.4:c.54354T>C,NM_003319.4:c.34863T>C,NM_001267550.1:c.62058T>C,NM_001256850.1:c.57135T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(Y11813),NM_133432.3:p.(Y11746),NM_133378.4:p.(Y18118),NM_003319.4:p.(Y11621),NM_001267550.1:p.(Y20686),NM_001256850.1:p.(Y19045);ESP6500_MAF=22.4885,47.378,32.0703;ESP6500_TAC=3885,8229;CLINVAR_AF_ESP=0.3207;CLINVAR_AF_EXAC=0.35396;CLINVAR_ALLELEID=56344;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178589667A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27054;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1560221	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3668,330,0
chr2	178590480	rs2163009;47170	T	C	3126.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=94;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=1.029;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2163009;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|304/363|c.61245A>G|p.Thr20415Thr|61470/109222|61245/107976|20415/35991||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|254/313|c.56322A>G|p.Thr18774Thr|56547/104299|56322/103053|18774/34350||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|132/191|c.34050A>G|p.Thr11350Thr|34275/82027|34050/80781|11350/26926||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|253/312|c.53541A>G|p.Thr17847Thr|53766/101518|53541/100272|17847/33423||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|133/192|c.34425A>G|p.Thr11475Thr|34650/82402|34425/81156|11475/27051||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|133/192|c.34626A>G|p.Thr11542Thr|34851/82603|34626/81357|11542/27118||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|11/16|n.3189-659T>C||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.597-7116T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2566;p3_1000G_AF=0.51238;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=22493;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179455207;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5583;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2033,1861;ESP6500_AA_GTC=544,945,458;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-12.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=110;ESP6500_EA_AC=1857,6427;ESP6500_EA_GTC=195,1467,2480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178590480;ESP6500_GTC=739,2412,2938;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.34626A>G,NM_133432.3:c.34425A>G,NM_133378.4:c.53541A>G,NM_003319.4:c.34050A>G,NM_001267550.1:c.61245A>G,NM_001256850.1:c.56322A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(T11542),NM_133432.3:p.(T11475),NM_133378.4:p.(T17847),NM_003319.4:p.(T11350),NM_001267550.1:p.(T20415),NM_001256850.1:p.(T18774);ESP6500_MAF=22.4167,47.7915,31.9428;ESP6500_TAC=3890,8288;CLINVAR_AF_ESP=0.3194;CLINVAR_AF_EXAC=0.35438;CLINVAR_ALLELEID=56335;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178590480T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27061;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2163009	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3155,282,0
chr2	178592420	rs16866406;47152	G	A	985.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.566;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=6.087;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.21;SOR=0.291;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16866406;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|301/363|c.59585C>T|p.Pro19862Leu|59810/109222|59585/107976|19862/35991||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|251/313|c.54662C>T|p.Pro18221Leu|54887/104299|54662/103053|18221/34350||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|129/191|c.32390C>T|p.Pro10797Leu|32615/82027|32390/80781|10797/26926||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|250/312|c.51881C>T|p.Pro17294Leu|52106/101518|51881/100272|17294/33423||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|130/192|c.32765C>T|p.Pro10922Leu|32990/82402|32765/81156|10922/27051||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|130/192|c.32966C>T|p.Pro10989Leu|33191/82603|32966/81357|10989/27118||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|12/16|n.3364+1106G>A||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.597-5176G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1067;p3_1000G_AF=0.213059;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=19552;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.1392;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179457147;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=283,3415;ESP6500_AA_GTC=10,263,1576;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=149;ESP6500_EA_AC=1205,6973;ESP6500_EA_GTC=91,1023,2975;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178592420;ESP6500_GS=98,98,98,98,98,98;ESP6500_GTC=101,1286,4551;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.32966C>T,NM_133432.3:c.32765C>T,NM_133378.4:c.51881C>T,NM_003319.4:c.32390C>T,NM_001267550.1:c.59585C>T,NM_001256850.1:c.54662C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(P10989L),NM_133432.3:p.(P10922L),NM_133378.4:p.(P17294L),NM_003319.4:p.(P10797L),NM_001267550.1:p.(P19862L),NM_001256850.1:p.(P18221L);ESP6500_MAF=14.7347,7.6528,12.5295;ESP6500_PH=benign:0.008,benign:0.008,benign:0.008,benign:0.008,benign:0.008,benign:0.008;ESP6500_TAC=1488,10388;CLINVAR_AF_ESP=0.1253;CLINVAR_AF_EXAC=0.17678;CLINVAR_AF_TGP=0.2131;CLINVAR_ALLELEID=56317;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178592420G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27084;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=16866406	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1014,0,1050
chr2	178593864	rs2288569;47136	C	T	649.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.951;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.812;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.14;SOR=0.298;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288569;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|298/363|c.58436G>A|p.Arg19479His|58661/109222|58436/107976|19479/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|248/313|c.53513G>A|p.Arg17838His|53738/104299|53513/103053|17838/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|126/191|c.31241G>A|p.Arg10414His|31466/82027|31241/80781|10414/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|247/312|c.50732G>A|p.Arg16911His|50957/101518|50732/100272|16911/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|127/192|c.31616G>A|p.Arg10539His|31841/82402|31616/81156|10539/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|127/192|c.31817G>A|p.Arg10606His|32042/82603|31817/81357|10606/27118||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|12/16|n.3364+2550C>T||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.597-3732C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1064;p3_1000G_AF=0.21246;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=20497;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179458591;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=284,3428;ESP6500_AA_GTC=10,264,1582;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=6.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=1208,6994;ESP6500_EA_GTC=91,1026,2984;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178593864;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=101,1290,4566;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.31817G>A,NM_133432.3:c.31616G>A,NM_133378.4:c.50732G>A,NM_003319.4:c.31241G>A,NM_001267550.1:c.58436G>A,NM_001256850.1:c.53513G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(R10606H),NM_133432.3:p.(R10539H),NM_133378.4:p.(R16911H),NM_003319.4:p.(R10414H),NM_001267550.1:p.(R19479H),NM_001256850.1:p.(R17838H);ESP6500_MAF=14.7281,7.6509,12.5231;ESP6500_PH=probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0,probably-damaging:1.0;ESP6500_TAC=1492,10422;CLINVAR_AF_ESP=0.1252;CLINVAR_AF_EXAC=0.17611;CLINVAR_AF_TGP=0.2125;CLINVAR_ALLELEID=56301;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178593864C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27114;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288569	GT:AD:DP:GQ:PL	0/1:29,27:56:99:678,0,773
chr2	178595830	rs72646834	A	T	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.81;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.333;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72646834;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|12/16|n.3365-1766A>T||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|294/362|c.57545-21T>A||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.597-1766A>T||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|244/312|c.52622-21T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|122/190|c.30350-21T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|243/311|c.49841-21T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|123/191|c.30725-21T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|123/191|c.30926-21T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=143;p3_1000G_AF=0.0285543;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=18770;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179460557;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=20,3674;ESP6500_AA_GTC=0,20,1827;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-11.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=36;ESP6500_EA_AC=170,8022;ESP6500_EA_GTC=1,168,3927;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178595830;ESP6500_GTC=1,188,5754;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.30926-21T>A,NM_133432.3:c.30725-21T>A,NM_133378.4:c.49841-21T>A,NM_003319.4:c.30350-21T>A,NM_001267550.1:c.57545-21T>A,NM_001256850.1:c.52622-21T>A;ESP6500_MAF=2.0752,0.5414,1.5985;ESP6500_TAC=190,11696	GT:AD:DP:GQ:PL	0/1:15,10:25:99:273,0,361
chr2	178597415	rs6712785	A	G	266.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6712785;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|12/16|n.3365-181A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|294/362|c.57544+123T>C||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|2/6|n.597-181A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|244/312|c.52621+123T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|122/190|c.30349+123T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|243/311|c.49840+123T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|123/191|c.30724+123T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|123/191|c.30925+123T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2565;p3_1000G_AF=0.512181;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=19231;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.2545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179462142;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5573;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:295,24,0
chr2	178598719	rs3214578;rs796840114	T	TA	257.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.924;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.753;SOR=0.859;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3214578;dbSNPBuildID=106,146;ANN=TA|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|14/16|n.3568+54dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|291/362|c.56962+28dupT||||||,TA|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|3/6|n.682+1046dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|241/312|c.52039+28dupT||||||,TA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|119/190|c.29767+28dupT||||||,TA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|240/311|c.49258+28dupT||||||,TA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|120/191|c.30142+28dupT||||||,TA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|120/191|c.30343+28dupT||||||;p3_1000G_AA=AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion;p3_1000G_AC=133;p3_1000G_AF=0.0265575;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.036;p3_1000G_AN=5008;p3_1000G_DP=19147;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0398;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179463446;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=INDEL;ESP6500_AA_AC=26,3528;ESP6500_AA_GTC=2,22,1753;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=78;ESP6500_EA_AC=230,7574;ESP6500_EA_GTC=3,224,3675;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178598719;ESP6500_GTC=5,246,5428;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.30343+28_30343+29insT,NM_133432.3:c.30142+28_30142+29insT,NM_133378.4:c.49258+28_49258+29insT,NM_003319.4:c.29767+28_29767+29insT,NM_001267550.1:c.56962+28_56962+29insT,NM_001256850.1:c.52039+28_52039+29insT;ESP6500_MAF=2.9472,0.7316,2.2539;ESP6500_TAC=256,11102	GT:AD:DP:GQ:PL	0/1:14,13:27:99:295,0,339
chr2	178599518	rs2288568	A	G	1161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=13.846;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.69;SOR=1.555;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288568;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|14/16|n.3569-76A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|289/362|c.56347+36T>C||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|3/6|n.682+1837A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|239/312|c.51424+36T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|117/190|c.29152+36T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|238/311|c.48643+36T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|118/191|c.29527+36T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|118/191|c.29728+36T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=143;p3_1000G_AF=0.0285543;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=22646;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179464245;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=22,3668;ESP6500_AA_GTC=0,22,1823;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=163;ESP6500_EA_AC=184,8006;ESP6500_EA_GTC=1,182,3912;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178599518;ESP6500_GTC=1,204,5735;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.29728+36T>C,NM_133432.3:c.29527+36T>C,NM_133378.4:c.48643+36T>C,NM_003319.4:c.29152+36T>C,NM_001267550.1:c.56347+36T>C,NM_001256850.1:c.51424+36T>C;ESP6500_MAF=2.2466,0.5962,1.734;ESP6500_TAC=206,11674	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1190,0,1278
chr2	178599800	rs1001238;47110	T	C	1778.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=2.262;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1001238;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|289/363|c.56101A>G|p.Asn18701Asp|56326/109222|56101/107976|18701/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|239/313|c.51178A>G|p.Asn17060Asp|51403/104299|51178/103053|17060/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|117/191|c.28906A>G|p.Asn9636Asp|29131/82027|28906/80781|9636/26926||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|238/312|c.48397A>G|p.Asn16133Asp|48622/101518|48397/100272|16133/33423||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|118/192|c.29281A>G|p.Asn9761Asp|29506/82402|29281/81156|9761/27051||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|118/192|c.29482A>G|p.Asn9828Asp|29707/82603|29482/81357|9828/27118||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|15/16|n.3725+50T>C||||||,C|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|3/6|n.682+2119T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2568;p3_1000G_AF=0.51278;p3_1000G_AFR_AF=0.5688;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=19770;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179464527;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1980,1734;ESP6500_AA_GTC=541,898,418;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=90;ESP6500_EA_AC=1846,6320;ESP6500_EA_GTC=195,1456,2432;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178599800;ESP6500_GS=23,23,23,23,23,23;ESP6500_GTC=736,2354,2850;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.29482A>G,NM_133432.3:c.29281A>G,NM_133378.4:c.48397A>G,NM_003319.4:c.28906A>G,NM_001267550.1:c.56101A>G,NM_001256850.1:c.51178A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(N9828D),NM_133432.3:p.(N9761D),NM_133378.4:p.(N16133D),NM_003319.4:p.(N9636D),NM_001267550.1:p.(N18701D),NM_001256850.1:p.(N17060D);ESP6500_MAF=22.6059,46.6882,32.2054;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3826,8054;CLINVAR_AF_ESP=0.3221;CLINVAR_AF_EXAC=0.35535;CLINVAR_ALLELEID=56275;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178599800T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27081;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1001238	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1807,171,0
chr2	178604659	rs10497518	A	G	466.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.392;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.65;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.2;SOR=0.324;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10497518;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene|16/16|n.3918-72A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|281/362|c.54381+49T>C||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|3/6|n.683-3508A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|231/312|c.49458+49T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|109/190|c.27186+49T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|230/311|c.46677+49T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|110/191|c.27561+49T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|110/191|c.27762+49T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=597;p3_1000G_AF=0.119209;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=19333;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179469386;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=433,3239;ESP6500_AA_GTC=28,377,1431;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=45;ESP6500_EA_AC=293,7883;ESP6500_EA_GTC=4,285,3799;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178604659;ESP6500_GTC=32,662,5230;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.27762+49T>C,NM_133432.3:c.27561+49T>C,NM_133378.4:c.46677+49T>C,NM_003319.4:c.27186+49T>C,NM_001267550.1:c.54381+49T>C,NM_001256850.1:c.49458+49T>C;ESP6500_MAF=3.5837,11.7919,6.1276;ESP6500_TAC=726,11122	GT:AD:DP:GQ:PL	0/1:24,20:44:99:495,0,651
chr2	178607565	rs2303832;47072	T	A	796.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.739;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0.852;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.103;SOR=0.563;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303832;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|277/363|c.53123A>T|p.Lys17708Ile|53348/109222|53123/107976|17708/35991||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|227/313|c.48200A>T|p.Lys16067Ile|48425/104299|48200/103053|16067/34350||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|105/191|c.25928A>T|p.Lys8643Ile|26153/82027|25928/80781|8643/26926||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|226/312|c.45419A>T|p.Lys15140Ile|45644/101518|45419/100272|15140/33423||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|106/192|c.26303A>T|p.Lys8768Ile|26528/82402|26303/81156|8768/27051||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|106/192|c.26504A>T|p.Lys8835Ile|26729/82603|26504/81357|8835/27118||,A|downstream_gene_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene||n.*2160T>A|||||2160|,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|3/6|n.683-602T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=148;p3_1000G_AF=0.0295527;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=18802;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179472292;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=20,3750;ESP6500_AA_GTC=0,20,1865;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=373;ESP6500_EA_AC=168,8068;ESP6500_EA_GTC=1,166,3951;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178607565;ESP6500_GS=102,102,102,102,102,102;ESP6500_GTC=1,186,5816;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.26504A>T,NM_133432.3:c.26303A>T,NM_133378.4:c.45419A>T,NM_003319.4:c.25928A>T,NM_001267550.1:c.53123A>T,NM_001256850.1:c.48200A>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(K8835I),NM_133432.3:p.(K8768I),NM_133378.4:p.(K15140I),NM_003319.4:p.(K8643I),NM_001267550.1:p.(K17708I),NM_001256850.1:p.(K16067I);ESP6500_MAF=2.0398,0.5305,1.5659;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=188,11818;CLINVAR_AF_ESP=0.0157;CLINVAR_AF_EXAC=0.02916;CLINVAR_AF_TGP=0.0296;CLINVAR_ALLELEID=56237;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDISDBINCL=MedGen:CN169374;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNDNINCL=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178607565T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNSIGINCL=179465:Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27106;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303832	GT:AD:DP:GQ:PL	0/1:46,34:80:99:825,0,1256
chr2	178607966	rs2303831;47065	A	G	931.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.91;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=3.132;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.668;SOR=0.837;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303831;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|276/363|c.52821T>C|p.Asp17607Asp|53046/109222|52821/107976|17607/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|226/313|c.47898T>C|p.Asp15966Asp|48123/104299|47898/103053|15966/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|104/191|c.25626T>C|p.Asp8542Asp|25851/82027|25626/80781|8542/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|225/312|c.45117T>C|p.Asp15039Asp|45342/101518|45117/100272|15039/33423||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|105/192|c.26001T>C|p.Asp8667Asp|26226/82402|26001/81156|8667/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|105/192|c.26202T>C|p.Asp8734Asp|26427/82603|26202/81357|8734/27118||,G|downstream_gene_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene||n.*2561A>G|||||2561|,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|3/6|n.683-201A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=153;p3_1000G_AF=0.0305511;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=19054;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179472693;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=20,3898;ESP6500_AA_GTC=0,20,1939;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=127;ESP6500_EA_AC=171,8157;ESP6500_EA_GTC=1,169,3994;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178607966;ESP6500_GTC=1,189,5933;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.26202T>C,NM_133432.3:c.26001T>C,NM_133378.4:c.45117T>C,NM_003319.4:c.25626T>C,NM_001267550.1:c.52821T>C,NM_001256850.1:c.47898T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(D8734),NM_133432.3:p.(D8667),NM_133378.4:p.(D15039),NM_003319.4:p.(D8542),NM_001267550.1:p.(D17607),NM_001256850.1:p.(D15966);ESP6500_MAF=2.0533,0.5105,1.5597;ESP6500_TAC=191,12055;CLINVAR_AF_ESP=0.0156;CLINVAR_AF_EXAC=0.02958;CLINVAR_AF_TGP=0.0306;CLINVAR_ALLELEID=56230;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178607966A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27136;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303831	GT:AD:DP:GQ:PL	0/1:44,32:76:99:960,0,1169
chr2	178609739	rs2288566;47056	C	T	917.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.361;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=1.762;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.601;SOR=0.968;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288566;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|272/363|c.51684G>A|p.Ala17228Ala|51909/109222|51684/107976|17228/35991||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|222/313|c.46761G>A|p.Ala15587Ala|46986/104299|46761/103053|15587/34350||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|100/191|c.24489G>A|p.Ala8163Ala|24714/82027|24489/80781|8163/26926||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|221/312|c.43980G>A|p.Ala14660Ala|44205/101518|43980/100272|14660/33423||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|101/192|c.24864G>A|p.Ala8288Ala|25089/82402|24864/81156|8288/27051||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|101/192|c.25065G>A|p.Ala8355Ala|25290/82603|25065/81357|8355/27118||,T|downstream_gene_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038272.1|pseudogene||n.*4334C>T|||||4334|,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|4/6|n.782+1473C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=150;p3_1000G_AF=0.0299521;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=19383;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179474466;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=22,3706;ESP6500_AA_GTC=0,22,1842;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-8.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=210;ESP6500_EA_AC=167,8031;ESP6500_EA_GTC=1,165,3933;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178609739;ESP6500_GTC=1,187,5775;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.25065G>A,NM_133432.3:c.24864G>A,NM_133378.4:c.43980G>A,NM_003319.4:c.24489G>A,NM_001267550.1:c.51684G>A,NM_001256850.1:c.46761G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(A8355),NM_133432.3:p.(A8288),NM_133378.4:p.(A14660),NM_003319.4:p.(A8163),NM_001267550.1:p.(A17228),NM_001256850.1:p.(A15587);ESP6500_MAF=2.0371,0.5901,1.5848;ESP6500_TAC=189,11737;CLINVAR_AF_ESP=0.0159;CLINVAR_AF_EXAC=0.02903;CLINVAR_AF_TGP=0.0300;CLINVAR_ALLELEID=56221;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178609739C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27156;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288566	GT:AD:DP:GQ:PL	0/1:48,39:87:99:946,0,1275
chr2	178612605	rs34928195;rs397871622;rs540117024	AT	A	1353.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.909;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=7.16;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=26.03;ReadPosRankSum=1.73;SOR=2.931;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34928195;dbSNPBuildID=137,142,138;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|265/362|c.49949-30delA||||||,A|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|4/6|n.783-1419delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|215/312|c.45026-30delA||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|93/190|c.22754-30delA||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|214/311|c.42245-30delA||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|94/191|c.23129-30delA||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|94/191|c.23330-30delA||||||	GT:AD:DP:GQ:PL	1/1:1,51:52:99:1391,128,0
chr2	178612749	rs72677248	T	G	608.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.81;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.566;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=1.23;SOR=0.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72677248;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|265/362|c.49948+24A>C||||||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|4/6|n.783-1286T>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|215/312|c.45025+24A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|93/190|c.22753+24A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|214/311|c.42244+24A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|94/191|c.23128+24A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|94/191|c.23329+24A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=181;p3_1000G_AF=0.0361422;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=18795;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179477476;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=23,3719;ESP6500_AA_GTC=0,23,1848;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=19;ESP6500_EA_AC=180,8046;ESP6500_EA_GTC=1,178,3934;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178612749;ESP6500_GTC=1,201,5782;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.23329+24A>C,NM_133432.3:c.23128+24A>C,NM_133378.4:c.42244+24A>C,NM_003319.4:c.22753+24A>C,NM_001267550.1:c.49948+24A>C,NM_001256850.1:c.45025+24A>C;ESP6500_MAF=2.1882,0.6146,1.6962;ESP6500_TAC=203,11765	GT:AD:DP:GQ:PL	0/1:12,19:31:99:637,0,307
chr2	178614391	rs200669885;~rs3214577	A	AT	372.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.283;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.742;SOR=0.495;INS;HET;VARTYPE=INS;dbSNP138_ID=rs200669885;dbSNPBuildID=137;ANN=AT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|261/362|c.49049-44dupA||||||,AT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|211/312|c.44126-44dupA||||||,AT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|89/190|c.21854-44dupA||||||,AT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|210/311|c.41345-44dupA||||||,AT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|90/191|c.22229-44dupA||||||,AT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|90/191|c.22430-44dupA||||||,AT|non_coding_transcript_exon_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|5/7|n.1147dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|TTTTTTTT|TTTTTTTTT|unsure;p3_1000G_AC=183;p3_1000G_AF=0.0365415;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=21974;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179479118;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=INDEL;ESP6500_AA_AC=23,3485;ESP6500_AA_GTC=1,21,1732;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=43;ESP6500_EA_AC=177,7617;ESP6500_EA_GTC=1,175,3721;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178614391;ESP6500_GTC=2,196,5453;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.22430-44_22430-43insA,NM_133432.3:c.22229-44_22229-43insA,NM_133378.4:c.41345-44_41345-43insA,NM_003319.4:c.21854-44_21854-43insA,NM_001267550.1:c.49049-44_49049-43insA,NM_001256850.1:c.44126-44_44126-43insA;ESP6500_MAF=2.271,0.6556,1.7696;ESP6500_TAC=200,11102	GT:AD:DP:GQ:PL	0/1:16,18:34:99:410,0,378
chr2	178615195	rs55658446	C	T	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.305;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.909;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55658446;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|259/362|c.48638+112G>A||||||,T|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|5/6|n.1553-128C>T||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|209/312|c.43715+112G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|87/190|c.21443+112G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|208/311|c.40934+112G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|88/191|c.21818+112G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|88/191|c.22019+112G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=152;p3_1000G_AF=0.0303514;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=20009;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179479922;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:225,0,345
chr2	178616578	rs763351197;535168	T	G	1113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.048;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=5.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.31;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|257/363|c.48213A>C|p.Ser16071Ser|48438/109222|48213/107976|16071/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|207/313|c.43290A>C|p.Ser14430Ser|43515/104299|43290/103053|14430/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|85/191|c.21018A>C|p.Ser7006Ser|21243/82027|21018/80781|7006/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|206/312|c.40509A>C|p.Ser13503Ser|40734/101518|40509/100272|13503/33423||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|86/192|c.21393A>C|p.Ser7131Ser|21618/82402|21393/81156|7131/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|86/192|c.21594A>C|p.Ser7198Ser|21819/82603|21594/81357|7198/27118||,G|intron_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|6/6|n.1604+1204T>G||||||;CLINVAR_ALLELEID=517114;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLINVAR_CLNHGVS=NC_000002.12:g.178616578T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273|TTN-AS1:100506866;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=763351197	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1142,0,1272
chr2	178620165	rs72677228	T	A	747.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.141;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-1.292;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72677228;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|248/362|c.46304+52A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|198/312|c.41381+52A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|76/190|c.19109+52A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|197/311|c.38600+52A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|77/191|c.19484+52A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|77/191|c.19685+52A>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene|7/7|n.2017T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=182;p3_1000G_AF=0.0363419;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=19679;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179484892;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,31:71:99:776,0,1053
chr2	178620872	rs2303829;46993	A	G	1036.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.21;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0.883;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.747;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303829;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|247/363|c.45738T>C|p.Ala15246Ala|45963/109222|45738/107976|15246/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|197/313|c.40815T>C|p.Ala13605Ala|41040/104299|40815/103053|13605/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|75/191|c.18543T>C|p.Ala6181Ala|18768/82027|18543/80781|6181/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|196/312|c.38034T>C|p.Ala12678Ala|38259/101518|38034/100272|12678/33423||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|76/192|c.18918T>C|p.Ala6306Ala|19143/82402|18918/81156|6306/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|76/192|c.19119T>C|p.Ala6373Ala|19344/82603|19119/81357|6373/27118||,G|downstream_gene_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene||n.*655A>G|||||655|;p3_1000G_AA=G|||;p3_1000G_AC=182;p3_1000G_AF=0.0363419;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=18086;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179485599;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=23,3715;ESP6500_AA_GTC=0,23,1846;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=138;ESP6500_EA_AC=183,7993;ESP6500_EA_GTC=1,181,3906;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178620872;ESP6500_GTC=1,204,5752;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.19119T>C,NM_133432.3:c.18918T>C,NM_133378.4:c.38034T>C,NM_003319.4:c.18543T>C,NM_001267550.1:c.45738T>C,NM_001256850.1:c.40815T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(A6373),NM_133432.3:p.(A6306),NM_133378.4:p.(A12678),NM_003319.4:p.(A6181),NM_001267550.1:p.(A15246),NM_001256850.1:p.(A13605);ESP6500_MAF=2.2383,0.6153,1.7291;ESP6500_TAC=206,11708;CLINVAR_AF_ESP=0.0173;CLINVAR_AF_EXAC=0.03334;CLINVAR_AF_TGP=0.0363;CLINVAR_ALLELEID=56158;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178620872A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27176;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2303829	GT:AD:DP:GQ:PL	0/1:36,38:74:99:1065,0,901
chr2	178621704	rs74580375;96289	A	C	1329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.43;ClippingRankSum=0;DP=99;ExcessHet=3.0103;FS=0.749;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.341;SOR=0.782;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74580375;dbSNPBuildID=131;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|245/363|c.45120T>G|p.Ile15040Met|45345/109222|45120/107976|15040/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|195/313|c.40197T>G|p.Ile13399Met|40422/104299|40197/103053|13399/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|73/191|c.17925T>G|p.Ile5975Met|18150/82027|17925/80781|5975/26926||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|194/312|c.37416T>G|p.Ile12472Met|37641/101518|37416/100272|12472/33423||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|74/192|c.18300T>G|p.Ile6100Met|18525/82402|18300/81156|6100/27051||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|74/192|c.18501T>G|p.Ile6167Met|18726/82603|18501/81357|6167/27118||,C|downstream_gene_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene||n.*1487A>C|||||1487|;p3_1000G_AA=A|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20985;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179486431;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00108;CLINVAR_AF_TGP=0.0038;CLINVAR_ALLELEID=102183;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178621704A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q8WZ42#VAR_040148;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=74580375	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1358,0,1389
chr2	178622587	rs200732906;rs545944925	C	CT	77.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.14;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.44;SOR=0.368;INS;HET;VARTYPE=INS;dbSNP138_ID=rs200732906;dbSNPBuildID=142,137;ANN=CT|downstream_gene_variant|MODIFIER|TTN-AS1|TTN-AS1|transcript|NR_038271.1|pseudogene||n.*2370_*2371insT|||||2371|,CT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|243/362|c.44913+82dupA||||||,CT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|193/312|c.39990+82dupA||||||,CT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|71/190|c.17718+82dupA||||||,CT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|192/311|c.37209+82dupA||||||,CT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|72/191|c.18093+82dupA||||||,CT|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|72/191|c.18294+82dupA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=196;p3_1000G_AF=0.0391374;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=17969;p3_1000G_EAS_AF=0.0982;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179487314;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,5:9:63:115,0,63
chr2	178634803	rs2288563;46952	T	C	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.62;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=2.11;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288563;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|229/363|c.42071A>G|p.His14024Arg|42296/109222|42071/107976|14024/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|179/313|c.37148A>G|p.His12383Arg|37373/104299|37148/103053|12383/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|57/191|c.14876A>G|p.His4959Arg|15101/82027|14876/80781|4959/26926||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|178/312|c.34367A>G|p.His11456Arg|34592/101518|34367/100272|11456/33423||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|58/192|c.15251A>G|p.His5084Arg|15476/82402|15251/81156|5084/27051||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|58/192|c.15452A>G|p.His5151Arg|15677/82603|15452/81357|5151/27118||;p3_1000G_AA=T|||;p3_1000G_AC=153;p3_1000G_AF=0.0305511;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=17258;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179499530;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=20,3636;ESP6500_AA_GTC=0,20,1808;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=128;ESP6500_EA_AC=168,8020;ESP6500_EA_GTC=1,166,3927;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178634803;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=1,186,5735;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.15452A>G,NM_133432.3:c.15251A>G,NM_133378.4:c.34367A>G,NM_003319.4:c.14876A>G,NM_001267550.1:c.42071A>G,NM_001256850.1:c.37148A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(H5151R),NM_133432.3:p.(H5084R),NM_133378.4:p.(H11456R),NM_003319.4:p.(H4959R),NM_001267550.1:p.(H14024R),NM_001256850.1:p.(H12383R);ESP6500_MAF=2.0518,0.547,1.5873;ESP6500_PH=benign:0.22,benign:0.22,benign:0.22,benign:0.22,benign:0.22,benign:0.22;ESP6500_TAC=188,11656;CLINVAR_AF_ESP=0.0159;CLINVAR_AF_EXAC=0.02912;CLINVAR_AF_TGP=0.0306;CLINVAR_ALLELEID=56117;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178634803T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27184;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2288563	GT:AD:DP:GQ:PL	0/1:7,7:14:99:221,0,163
chr2	178636063	rs55847232;46946	A	G	1466.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.56;ClippingRankSum=0;DP=125;ExcessHet=3.0103;FS=1.449;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.229;SOR=0.886;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55847232;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|226/363|c.41508T>C|p.Ala13836Ala|41733/109222|41508/107976|13836/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|176/313|c.36585T>C|p.Ala12195Ala|36810/104299|36585/103053|12195/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|54/191|c.14313T>C|p.Ala4771Ala|14538/82027|14313/80781|4771/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|175/312|c.33804T>C|p.Ala11268Ala|34029/101518|33804/100272|11268/33423||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|55/192|c.14688T>C|p.Ala4896Ala|14913/82402|14688/81156|4896/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|55/192|c.14889T>C|p.Ala4963Ala|15114/82603|14889/81357|4963/27118||;p3_1000G_AA=G|||;p3_1000G_AC=183;p3_1000G_AF=0.0365415;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=16880;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179500790;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=25,4045;ESP6500_AA_GTC=0,25,2010;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-0.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=91;ESP6500_EA_AC=184,8172;ESP6500_EA_GTC=1,182,3995;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178636063;ESP6500_GTC=1,207,6005;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.14889T>C,NM_133432.3:c.14688T>C,NM_133378.4:c.33804T>C,NM_003319.4:c.14313T>C,NM_001267550.1:c.41508T>C,NM_001256850.1:c.36585T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(A4963),NM_133432.3:p.(A4896),NM_133378.4:p.(A11268),NM_003319.4:p.(A4771),NM_001267550.1:p.(A13836),NM_001256850.1:p.(A12195);ESP6500_MAF=2.202,0.6143,1.682;ESP6500_TAC=209,12217;CLINVAR_AF_ESP=0.0168;CLINVAR_AF_EXAC=0.03343;CLINVAR_AF_TGP=0.0365;CLINVAR_ALLELEID=56111;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178636063A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27206;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=55847232	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1495,0,1742
chr2	178641169	rs2243452	A	G	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.735;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.735;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2243452;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|220/362|c.40633+72T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|170/312|c.35710+72T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|48/190|c.13438+72T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|169/311|c.32929+72T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|49/191|c.13813+72T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|49/191|c.14014+72T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=183;p3_1000G_AF=0.0365415;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=18276;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179505896;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,9:23:99:210,0,316
chr2	178645777	rs2562844	G	C	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.876;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.589;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562844;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|217/362|c.40408+143C>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|167/312|c.35485+143C>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-3460C>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|166/311|c.32704+143C>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-3460C>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-3460C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=183;p3_1000G_AF=0.0365415;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=15043;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179510504;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:106,0,151
chr2	178647040	rs10580462;rs1401721480;192211	GTA	G	90.25	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.05;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72193687,rs10580462,rs369514223;dbSNPBuildID=151,130;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|215/362|c.40222+22_40222+23delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|166/312|c.35375-1012_35375-1011delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-4725_13283-4724delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|165/311|c.32594-1012_32594-1011delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-4725_13658-4724delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-4725_13859-4724delTA||||||;CLINVAR_ALLELEID=189624;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178647061_178647062delTA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=0;CLINVAR_RS=10580462	GT:AD:DP:GQ:PL	0/1:1,4:5:9:127,0,9
chr2	178649693	rs1366677	G	A	358.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.144;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.217;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1366677;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|211/362|c.39896-62C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|166/312|c.35374+124C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-7376C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|165/311|c.32593+124C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-7376C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-7376C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=153;p3_1000G_AF=0.0305511;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=17351;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179514420;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,13:31:99:387,0,520
chr2	178649706	rs2562845	T	C	996.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2562845;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|211/362|c.39896-75A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|166/312|c.35374+111A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-7389A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|165/311|c.32593+111A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-7389A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-7389A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1627;p3_1000G_AF=0.32488;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=17832;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179514433;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1025,96,0
chr2	178649781	rs2742356	A	C	359.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=-1.504;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742356;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|211/362|c.39895+36T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|166/312|c.35374+36T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-7464T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|165/311|c.32593+36T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-7464T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-7464T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=153;p3_1000G_AF=0.0305511;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=17893;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179514508;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=19,3685;ESP6500_AA_GTC=0,19,1833;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=95;ESP6500_EA_AC=160,8036;ESP6500_EA_GTC=1,158,3939;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178649781;ESP6500_GTC=1,177,5772;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-7464T>G,NM_133432.3:c.13658-7464T>G,NM_133378.4:c.32593+36T>G,NM_003319.4:c.13283-7464T>G,NM_001267550.1:c.39895+36T>G,NM_001256850.1:c.35374+36T>G;ESP6500_MAF=1.9522,0.513,1.5042;ESP6500_TAC=179,11721	GT:AD:DP:GQ:PL	0/1:11,12:23:99:388,0,258
chr2	178650710	rs2742355	T	G	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.954;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.041;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742355;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|209/362|c.39709+41A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|164/312|c.35188+41A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-8393A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|163/311|c.32407+41A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-8393A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-8393A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=154;p3_1000G_AF=0.0307508;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=17927;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179515437;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=20,3758;ESP6500_AA_GTC=0,20,1869;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=37;ESP6500_EA_AC=163,8051;ESP6500_EA_GTC=2,159,3946;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178650710;ESP6500_GTC=2,179,5815;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-8393A>C,NM_133432.3:c.13658-8393A>C,NM_133378.4:c.32407+41A>C,NM_003319.4:c.13283-8393A>C,NM_001267550.1:c.39709+41A>C,NM_001256850.1:c.35188+41A>C;ESP6500_MAF=1.9844,0.5294,1.526;ESP6500_TAC=183,11809	GT:AD:DP:GQ:PL	0/1:10,14:24:99:381,0,221
chr2	178652927	rs2742354;413166	T	C	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.913;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=4.743;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-0.184;SOR=0.477;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742354;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|200/363|c.38880A>G|p.Pro12960Pro|39105/109222|38880/107976|12960/35991||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|156/312|c.34523-386A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-10610A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|155/311|c.31742-386A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-10610A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-10610A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=183;p3_1000G_AF=0.0365415;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=18162;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179517654;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;CLINVAR_ALLELEID=391958;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLINVAR_CLNHGVS=NC_000002.12:g.178652927T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2742354	GT:AD:DP:GQ:PL	0/1:25,15:40:99:335,0,628
chr2	178653276	rs2562847;535163	A	G	736.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.134;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=4.116;MLEAC=1;MLEAF=0.5;MQ=55.44;MQRankSum=-2.268;QD=14.45;ReadPosRankSum=0.946;SOR=1.119;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562847;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|198/363|c.38753T>C|p.Leu12918Ser|38978/109222|38753/107976|12918/35991||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|156/312|c.34523-735T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-10959T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|155/311|c.31742-735T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-10959T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-10959T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=586;p3_1000G_AF=0.117013;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=17498;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.0636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179518003;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;CLINVAR_ALLELEID=517427;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLINVAR_CLNHGVS=NC_000002.12:g.178653276A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562847	GT:AD:DP:GQ:PL	0/1:20,31:51:99:765,0,454
chr2	178653325	rs200819643;238764	A	G	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.52;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=18.647;MLEAC=1;MLEAF=0.5;MQ=44.9;MQRankSum=-3.887;QD=5.97;ReadPosRankSum=-2.066;SOR=2.898;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200819643;dbSNPBuildID=137;ANN=G|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|197/362|c.38708-4T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|156/312|c.34523-784T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-11008T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|155/311|c.31742-784T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-11008T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-11008T>C||||||;CLINVAR_AF_EXAC=0.00773;CLINVAR_ALLELEID=238502;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178653325A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=200819643	GT:AD:DP:GQ:PL	0/1:46,20:66:99:422,0,1190
chr2	178658787	rs200021871;192213	T	A	139.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.498;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=27.61;MQRankSum=-0.926;QD=5.82;ReadPosRankSum=-0.817;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200021871;dbSNPBuildID=137;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|183/363|c.37461A>T|p.Glu12487Asp|37686/109222|37461/107976|12487/35991||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|156/312|c.34522+218A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-16470A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|155/311|c.31741+218A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-16470A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-16470A>T||||||;ESP6500_AA=T;ESP6500_AA_AC=9,1743;ESP6500_AA_GTC=0,9,867;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-1.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=35;ESP6500_EA_AC=60,3914;ESP6500_EA_GTC=0,60,1927;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:missense,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178658787;ESP6500_GS=.,.,.,.,45,.;ESP6500_GTC=0,69,2794;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-16470A>T,NM_133432.3:c.13658-16470A>T,NM_133378.4:c.31741+218A>T,NM_003319.4:c.13283-16470A>T,NM_001267550.1:c.37461A>T,NM_001256850.1:c.34522+218A>T;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,NM_001267550.1:p.(E12487D),.;ESP6500_MAF=1.5098,0.5137,1.205;ESP6500_PH=.,.,.,.,possibly-damaging:0.799,.;ESP6500_TAC=69,5657;CLINVAR_AF_ESP=0.0121;CLINVAR_AF_EXAC=0.03502;CLINVAR_ALLELEID=189636;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178658787T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=200021871	GT:AD:DP:GQ:PL	0/1:15,9:24:99:168,0,328
chr2	178658863	rs2366755	C	A	194.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.596;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=4.665;MLEAC=1;MLEAF=0.5;MQ=28.43;MQRankSum=-0.395;QD=10.82;ReadPosRankSum=-1.71;SOR=1.492;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146110527;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|182/362|c.37454-69G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|156/312|c.34522+142G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-16546G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|155/311|c.31741+142G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-16546G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-16546G>T||||||	GT:AD:DP:GQ:PL	0/1:8,10:18:99:223,0,180
chr2	178658884	rs62178969	T	C	143.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.512;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.533;MLEAC=1;MLEAF=0.5;MQ=25.68;MQRankSum=-2.572;QD=11.98;ReadPosRankSum=-2.119;SOR=1.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140191471;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|182/362|c.37454-90A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|156/312|c.34522+121A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-16567A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|155/311|c.31741+121A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-16567A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-16567A>G||||||	GT:AD:DP:GQ:PL	0/1:5,7:12:99:172,0,107
chr2	178661846	rs202032281;220772	A	G	210.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.728;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.46;MQRankSum=-0.028;QD=8.11;ReadPosRankSum=-2.738;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs202032281;dbSNPBuildID=137;ANN=G|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|179/362|c.37202-4T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|154/312|c.34354+1120T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-19529T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|153/311|c.31573+1120T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-19529T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-19529T>C||||||;ESP6500_AA=A;ESP6500_AA_AC=6,1728;ESP6500_AA_GTC=0,6,861;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_137;ESP6500_DP=46;ESP6500_EA_AC=32,3944;ESP6500_EA_GTC=0,32,1956;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178661846;ESP6500_GTC=0,38,2817;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-19529T>C,NM_133432.3:c.13658-19529T>C,NM_133378.4:c.31573+1120T>C,NM_003319.4:c.13283-19529T>C,NM_001267550.1:c.37202-4T>C,NM_001256850.1:c.34354+1120T>C;ESP6500_MAF=0.8048,0.346,0.6655;ESP6500_TAC=38,5672;CLINVAR_AF_ESP=0.0067;CLINVAR_AF_EXAC=0.03320;CLINVAR_ALLELEID=221128;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLINVAR_CLNHGVS=NC_000002.12:g.178661846A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=202032281	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,9:26:99:0|1:178661846_A_G:239,0,786
chr2	178661871	rs774874498	G	A	144.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.477;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=8.28;MLEAC=1;MLEAF=0.5;MQ=32.98;MQRankSum=-0.368;QD=6.89;ReadPosRankSum=-1.61;SOR=2.25;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|179/362|c.37202-29C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|154/312|c.34354+1095C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-19554C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|153/311|c.31573+1095C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-19554C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-19554C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,6:21:99:0|1:178661846_A_G:173,0,752
chr2	178662235	rs760603937	T	C	34.74	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=26.02;QD=17.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|177/362|c.37040-13A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|154/312|c.34354+731A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-19918A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|153/311|c.31573+731A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-19918A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-19918A>G||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:62,6,0
chr2	178663183	rs2435089	A	T	41.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.463;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=35.33;MQRankSum=-1.969;QD=3.21;ReadPosRankSum=0.736;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201986843;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|173/362|c.36700+83T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|153/312|c.34265-128T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-20866T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|152/311|c.31484-128T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-20866T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-20866T>A||||||	GT:AD:DP:GQ:PL	0/1:9,4:13:70:70,0,224
chr2	178663311	rs12994774;220982	A	C	139.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=34.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs139508281;dbSNPBuildID=121;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|173/363|c.36655T>G|p.Leu12219Val|36880/109222|36655/107976|12219/35991||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|153/312|c.34265-256T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-20994T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|152/311|c.31484-256T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-20994T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-20994T>G||||||;CLINVAR_AF_EXAC=0.01498;CLINVAR_ALLELEID=221130;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178663311A>C;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(1),Uncertain_significance(1);CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12994774	GT:AD:DP:GQ:PL	1/1:0,4:4:12:167,12,0
chr2	178663651	rs2163008;192215	C	T	397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.158;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.347;SOR=0.488;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2163008;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|171/363|c.36508G>A|p.Glu12170Lys|36733/109222|36508/107976|12170/35991||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|153/312|c.34265-596G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-21334G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|152/311|c.31484-596G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-21334G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-21334G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1298;p3_1000G_AF=0.259185;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=18311;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.0755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179528378;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2699;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=829,923;ESP6500_AA_GTC=198,433,245;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=306;ESP6500_EA_AC=223,3759;ESP6500_EA_GTC=7,209,1775;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:missense,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178663651;ESP6500_GS=.,.,.,.,56,.;ESP6500_GTC=205,642,2020;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-21334G>A,NM_133432.3:c.13658-21334G>A,NM_133378.4:c.31484-596G>A,NM_003319.4:c.13283-21334G>A,NM_001267550.1:c.36508G>A,NM_001256850.1:c.34265-596G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,NM_001267550.1:p.(E12170K),.;ESP6500_MAF=5.6002,47.3174,18.3467;ESP6500_TAC=1052,4682;CLINVAR_AF_ESP=0.1835;CLINVAR_AF_EXAC=0.14759;CLINVAR_AF_TGP=0.2592;CLINVAR_ALLELEID=189644;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178663651C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=0;CLINVAR_RS=2163008	GT:AD:DP:GQ:PL	0/1:17,21:38:99:426,0,497
chr2	178664262	rs2562848	C	T	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.589;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.967;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562848;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|168/362|c.36281-164G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|153/312|c.34265-1207G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-21945G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|152/311|c.31484-1207G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-21945G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-21945G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1299;p3_1000G_AF=0.259385;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=17735;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179528989;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:45:225,0,45
chr2	178664546	rs2562849;413235	A	G	498.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=1.24;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562849;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|167/362|c.36203-9T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|153/312|c.34265-1491T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-22229T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|152/311|c.31484-1491T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-22229T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-22229T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=184;p3_1000G_AF=0.0367412;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=18261;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179529273;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=12,1740;ESP6500_AA_GTC=0,12,864;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=2.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=108;ESP6500_EA_AC=87,3895;ESP6500_EA_GTC=1,85,1905;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178664546;ESP6500_GTC=1,97,2769;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-22229T>C,NM_133432.3:c.13658-22229T>C,NM_133378.4:c.31484-1491T>C,NM_003319.4:c.13283-22229T>C,NM_001267550.1:c.36203-9T>C,NM_001256850.1:c.34265-1491T>C;ESP6500_MAF=2.1848,0.6849,1.7265;ESP6500_TAC=99,5635;CLINVAR_ALLELEID=392025;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G;CLINVAR_CLNHGVS=NC_000002.12:g.178664546A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562849	GT:AD:DP:GQ:PL	0/1:9,18:27:99:527,0,213
chr2	178664770	rs2742353	T	G	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.4;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.427;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.973;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742353;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|166/362|c.36119-33A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|153/312|c.34265-1715A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-22453A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|152/311|c.31484-1715A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-22453A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-22453A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=185;p3_1000G_AF=0.0369409;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=17557;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179529497;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=12,1740;ESP6500_AA_GTC=0,12,864;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=33;ESP6500_EA_AC=86,3896;ESP6500_EA_GTC=1,84,1906;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178664770;ESP6500_GTC=1,96,2770;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-22453A>C,NM_133432.3:c.13658-22453A>C,NM_133378.4:c.31484-1715A>C,NM_003319.4:c.13283-22453A>C,NM_001267550.1:c.36119-33A>C,NM_001256850.1:c.34265-1715A>C;ESP6500_MAF=2.1597,0.6849,1.7091;ESP6500_TAC=98,5636	GT:AD:DP:GQ:PL	0/1:20,9:29:99:299,0,578
chr2	178675176	rs2472751	C	A	548.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2472751;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|149/362|c.34538-63G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|145/312|c.33416-63G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-32859G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|144/311|c.30635-63G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-32859G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-32859G>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=2360;p3_1000G_AF=0.471246;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=15744;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179539903;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=747,637;ESP6500_AA_GTC=201,345,146;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=676,2504;ESP6500_EA_GTC=69,538,983;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178675176;ESP6500_GTC=270,883,1129;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-32859G>T,NM_133432.3:c.13658-32859G>T,NM_133378.4:c.30635-63G>T,NM_003319.4:c.13283-32859G>T,NM_001267550.1:c.34538-63G>T,NM_001256850.1:c.33416-63G>T;ESP6500_MAF=21.2579,46.026,31.1788;ESP6500_TAC=1423,3141	GT:AD:DP:GQ:PL	1/1:0,19:19:57:577,57,0
chr2	178677172	rs2742351	C	G	1357.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=0.78;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2742351;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|147/362|c.34378+29G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|144/312|c.33340+449G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-34855G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|143/311|c.30559+449G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-34855G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-34855G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3873;p3_1000G_AF=0.773363;p3_1000G_AFR_AF=0.7791;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=9055;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.7445;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179541899;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1386,138,0
chr2	178678490	rs35112591;46894	C	T	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.023;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.141;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=0.333;SOR=0.205;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35112591;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|144/363|c.33834G>A|p.Glu11278Glu|34059/109222|33834/107976|11278/35991||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|142/313|c.32883G>A|p.Glu10961Glu|33108/104299|32883/103053|10961/34350||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|141/312|c.30102G>A|p.Glu10034Glu|30327/101518|30102/100272|10034/33423||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-36173G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-36173G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-36173G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1194;p3_1000G_AF=0.238419;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=13346;p3_1000G_EAS_AF=0.4454;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179543217;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=498,3178;ESP6500_AA_GTC=42,414,1382;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=34;ESP6500_EA_AC=1313,6871;ESP6500_EA_GTC=103,1107,2882;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178678490;ESP6500_GTC=145,1521,4264;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-36173G>A,NM_133432.3:c.13658-36173G>A,NM_133378.4:c.30102G>A,NM_003319.4:c.13283-36173G>A,NM_001267550.1:c.33834G>A,NM_001256850.1:c.32883G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(E10034),.,NM_001267550.1:p.(E11278),NM_001256850.1:p.(E10961);ESP6500_MAF=16.0435,13.5473,15.2698;ESP6500_TAC=1811,10049;CLINVAR_AF_ESP=0.1527;CLINVAR_AF_EXAC=0.25990;CLINVAR_AF_TGP=0.2384;CLINVAR_ALLELEID=56059;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178678490C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27133;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35112591	GT:AD:DP:GQ:PL	0/1:12,9:21:99:210,0,375
chr2	178683133	rs2303828	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.682;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=1.14;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303828;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|134/362|c.32887+78T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|132/312|c.31936+78T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-40816T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|131/311|c.29155+78T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-40816T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-40816T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1427;p3_1000G_AF=0.284944;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=18499;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179547860;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:89:229,0,89
chr2	178684227	rs398071447;rs756205230;rs78092378	T	TCAA	163.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=-0.674;SOR=0.33;INS;HET;VARTYPE=INS;dbSNP138_ID=rs78092378;dbSNPBuildID=137,144,138;ANN=TCAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|132/362|c.32722+100_32722+102dupTTG||||||,TCAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|130/312|c.31771+100_31771+102dupTTG||||||,TCAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-41913_13283-41911dupTTG||||||,TCAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|129/311|c.28990+100_28990+102dupTTG||||||,TCAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-41913_13658-41911dupTTG||||||,TCAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-41913_13859-41911dupTTG||||||	GT:AD:DP:GQ:PL	0/1:3,5:8:99:201,0,115
chr2	178689190	rs2627038	G	A	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.757;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-0.27;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2627038;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|124/362|c.32012-54C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|122/312|c.31061-54C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-46873C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|121/311|c.28280-54C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-46873C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-46873C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1310;p3_1000G_AF=0.261581;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=18266;p3_1000G_EAS_AF=0.129;p3_1000G_EUR_AF=0.0755;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179553917;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=649,735;ESP6500_AA_GTC=152,345,195;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=120;ESP6500_EA_AC=175,3007;ESP6500_EA_GTC=6,163,1422;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178689190;ESP6500_GTC=158,508,1617;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-46873C>T,NM_133432.3:c.13658-46873C>T,NM_133378.4:c.28280-54C>T,NM_003319.4:c.13283-46873C>T,NM_001267550.1:c.32012-54C>T,NM_001256850.1:c.31061-54C>T;ESP6500_MAF=5.4997,46.8931,18.0464;ESP6500_TAC=824,3742	GT:AD:DP:GQ:PL	0/1:15,7:22:99:184,0,379
chr2	178689578	rs2244492;46859	C	T	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.438;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.673;SOR=0.633;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2244492;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|123/363|c.31864G>A|p.Gly10622Arg|32089/109222|31864/107976|10622/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|121/313|c.30913G>A|p.Gly10305Arg|31138/104299|30913/103053|10305/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|120/312|c.28132G>A|p.Gly9378Arg|28357/101518|28132/100272|9378/33423||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13283-47261G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13658-47261G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13859-47261G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2070;p3_1000G_AF=0.413339;p3_1000G_AFR_AF=0.6067;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=19129;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.3827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179554305;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2207,1503;ESP6500_AA_GTC=654,899,302;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=225;ESP6500_EA_AC=2955,5243;ESP6500_EA_GTC=514,1927,1658;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:missense,NM_003319.4:intron,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178689578;ESP6500_GS=.,.,125,.,125,125;ESP6500_GTC=1168,2826,1960;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13859-47261G>A,NM_133432.3:c.13658-47261G>A,NM_133378.4:c.28132G>A,NM_003319.4:c.13283-47261G>A,NM_001267550.1:c.31864G>A,NM_001256850.1:c.30913G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(G9378R),.,NM_001267550.1:p.(G10622R),NM_001256850.1:p.(G10305R);ESP6500_MAF=36.0454,40.5121,43.349;ESP6500_TAC=5162,6746;CLINVAR_AF_ESP=0.4335;CLINVAR_AF_EXAC=0.39948;CLINVAR_AF_TGP=0.4133;CLINVAR_ALLELEID=56024;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178689578C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26912;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2244492	GT:AD:DP:GQ:PL	0/1:21,18:39:99:418,0,551
chr2	178693639	rs2042995;46852	T	C	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.827;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=1.14;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2042995;dbSNPBuildID=94;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|119/363|c.31564A>G|p.Ile10522Val|31789/109222|31564/107976|10522/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|117/313|c.30613A>G|p.Ile10205Val|30838/104299|30613/103053|10205/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|116/312|c.27832A>G|p.Ile9278Val|28057/101518|27832/100272|9278/33423||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+44443A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+44443A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+44443A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2393;p3_1000G_AF=0.477835;p3_1000G_AFR_AF=0.5877;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=17705;p3_1000G_EAS_AF=0.5685;p3_1000G_EUR_AF=0.2455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179558366;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2003,1581;ESP6500_AA_GTC=579,845,368;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=61;ESP6500_EA_AC=1858,6270;ESP6500_EA_GTC=194,1470,2400;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:missense,NM_003319.4:intron,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178693639;ESP6500_GS=.,.,29,.,29,29;ESP6500_GTC=773,2315,2768;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+44443A>G,NM_133432.3:c.13657+44443A>G,NM_133378.4:c.27832A>G,NM_003319.4:c.13282+44443A>G,NM_001267550.1:c.31564A>G,NM_001256850.1:c.30613A>G;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(I9278V),.,NM_001267550.1:p.(I10522V),NM_001256850.1:p.(I10205V);ESP6500_MAF=22.8593,44.1127,32.9662;ESP6500_TAC=3861,7851;CLINVAR_AF_ESP=0.3297;CLINVAR_AF_EXAC=0.35364;CLINVAR_AF_TGP=0.4778;CLINVAR_ALLELEID=56017;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178693639T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27144;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2042995	GT:AD:DP:GQ:PL	0/1:16,9:25:99:199,0,370
chr2	178701419	rs2251987	T	G	505.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.69;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2251987;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|110/362|c.30598+109A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|108/312|c.29647+109A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+36663A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|107/311|c.26866+109A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+36663A>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+36663A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4827;p3_1000G_AF=0.963858;p3_1000G_AFR_AF=0.8691;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=18063;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179566146;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:534,39,0
chr2	178704673	rs2742344;46825	C	T	949.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.562;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=1.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.53;SOR=0.968;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742344;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|105/363|c.29799G>A|p.Ser9933Ser|30024/109222|29799/107976|9933/35991||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|103/313|c.28848G>A|p.Ser9616Ser|29073/104299|28848/103053|9616/34350||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|102/312|c.26067G>A|p.Ser8689Ser|26292/101518|26067/100272|8689/33423||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+33409G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+33409G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+33409G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=422;p3_1000G_AF=0.0842652;p3_1000G_AFR_AF=0.0991;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=19794;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179569400;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=297,3329;ESP6500_AA_GTC=14,269,1530;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=53;ESP6500_EA_AC=198,7964;ESP6500_EA_GTC=2,194,3885;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178704673;ESP6500_GTC=16,463,5415;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+33409G>A,NM_133432.3:c.13657+33409G>A,NM_133378.4:c.26067G>A,NM_003319.4:c.13282+33409G>A,NM_001267550.1:c.29799G>A,NM_001256850.1:c.28848G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(S8689),.,NM_001267550.1:p.(S9933),NM_001256850.1:p.(S9616);ESP6500_MAF=2.4259,8.1908,4.1992;ESP6500_TAC=495,11293;CLINVAR_AF_ESP=0.0420;CLINVAR_AF_EXAC=0.05201;CLINVAR_AF_TGP=0.0843;CLINVAR_ALLELEID=55990;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178704673C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27223;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2742344	GT:AD:DP:GQ:PL	0/1:47,38:85:99:978,0,1161
chr2	178704709	rs2742343;46823	A	G	1231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.92;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=4.078;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=-0.432;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742343;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|105/363|c.29763T>C|p.Ile9921Ile|29988/109222|29763/107976|9921/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|103/313|c.28812T>C|p.Ile9604Ile|29037/104299|28812/103053|9604/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|102/312|c.26031T>C|p.Ile8677Ile|26256/101518|26031/100272|8677/33423||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+33373T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+33373T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+33373T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=485;p3_1000G_AF=0.096845;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=20190;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179569436;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=484,3128;ESP6500_AA_GTC=38,408,1360;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=202,7942;ESP6500_EA_GTC=3,196,3873;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178704709;ESP6500_GTC=41,604,5233;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+33373T>C,NM_133432.3:c.13657+33373T>C,NM_133378.4:c.26031T>C,NM_003319.4:c.13282+33373T>C,NM_001267550.1:c.29763T>C,NM_001256850.1:c.28812T>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(I8677),.,NM_001267550.1:p.(I9921),NM_001256850.1:p.(I9604);ESP6500_MAF=2.4804,13.3998,5.8353;ESP6500_TAC=686,11070;CLINVAR_AF_ESP=0.0584;CLINVAR_AF_EXAC=0.05739;CLINVAR_AF_TGP=0.0969;CLINVAR_ALLELEID=55988;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178704709A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27239;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2742343	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1260,0,815
chr2	178705387	rs2742342	A	T	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.187;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=1.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.37;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742342;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|102/362|c.29421-30T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|100/312|c.28470-30T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+32695T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|99/311|c.25689-30T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+32695T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+32695T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=434;p3_1000G_AF=0.0866613;p3_1000G_AFR_AF=0.1074;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=16118;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179570114;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=300,3178;ESP6500_AA_GTC=14,272,1453;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=21;ESP6500_EA_AC=180,7762;ESP6500_EA_GTC=2,176,3793;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178705387;ESP6500_GTC=16,448,5246;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+32695T>A,NM_133432.3:c.13657+32695T>A,NM_133378.4:c.25689-30T>A,NM_003319.4:c.13282+32695T>A,NM_001267550.1:c.29421-30T>A,NM_001256850.1:c.28470-30T>A;ESP6500_MAF=2.2664,8.6256,4.2032;ESP6500_TAC=480,10940	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:0|1:178705387_A_T:306,0,495
chr2	178705395	rs2742341	C	A	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.483;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=0.702;SOR=1.806;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742341;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|102/362|c.29421-38G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|100/312|c.28470-38G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+32687G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|99/311|c.25689-38G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+32687G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+32687G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=257;p3_1000G_AF=0.0513179;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=16271;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179570122;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=17,3387;ESP6500_AA_GTC=0,17,1685;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=18;ESP6500_EA_AC=152,7654;ESP6500_EA_GTC=2,148,3753;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178705395;ESP6500_GTC=2,165,5438;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+32687G>T,NM_133432.3:c.13657+32687G>T,NM_133378.4:c.25689-38G>T,NM_003319.4:c.13282+32687G>T,NM_001267550.1:c.29421-38G>T,NM_001256850.1:c.28470-38G>T;ESP6500_MAF=1.9472,0.4994,1.5076;ESP6500_TAC=169,11041	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,8:15:99:0|1:178705387_A_T:312,0,429
chr2	178709657	rs2742332;46812	C	T	852.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.243;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=2.155;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=1.23;SOR=0.759;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742332;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|99/363|c.28662G>A|p.Arg9554Arg|28887/109222|28662/107976|9554/35991||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|97/313|c.27711G>A|p.Arg9237Arg|27936/104299|27711/103053|9237/34350||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|96/312|c.24930G>A|p.Arg8310Arg|25155/101518|24930/100272|8310/33423||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+28425G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+28425G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+28425G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=377;p3_1000G_AF=0.0752796;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=18869;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179574384;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=236,3850;ESP6500_AA_GTC=11,214,1818;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=185;ESP6500_EA_AC=198,8172;ESP6500_EA_GTC=2,194,3989;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178709657;ESP6500_GTC=13,408,5807;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+28425G>A,NM_133432.3:c.13657+28425G>A,NM_133378.4:c.24930G>A,NM_003319.4:c.13282+28425G>A,NM_001267550.1:c.28662G>A,NM_001256850.1:c.27711G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(R8310),.,NM_001267550.1:p.(R9554),NM_001256850.1:p.(R9237);ESP6500_MAF=2.3656,5.7758,3.4843;ESP6500_TAC=434,12022;CLINVAR_AF_ESP=0.0348;CLINVAR_AF_EXAC=0.04876;CLINVAR_AF_TGP=0.0753;CLINVAR_ALLELEID=55977;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178709657C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27254;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2742332	GT:AD:DP:GQ:PL	0/1:26,35:61:99:881,0,694
chr2	178711869	rs2742331	A	T	578.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.422;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=16.115;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=0.139;SOR=4.427;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742331;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|96/362|c.27886+75T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|94/312|c.26935+75T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+26213T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|93/311|c.24154+75T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+26213T>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+26213T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2228;p3_1000G_AF=0.444888;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=17456;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.2237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179576596;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,19:33:99:607,0,370
chr2	178713381	rs71393436;167797	T	TACAAAACAAAACAAAACAAA	238.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.812;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.89;ReadPosRankSum=-1.704;SOR=1.022;INS;HET;VARTYPE=INS;dbSNPBuildID=130;ANN=TACAAAACAAAACAAAACAAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|92/362|c.26762-29_26762-10dupTTTGTTTTGTTTTGTTTTGT||||||,TACAAAACAAAACAAAACAAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|90/312|c.25811-29_25811-10dupTTTGTTTTGTTTTGTTTTGT||||||,TACAAAACAAAACAAAACAAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+24681_13282+24700dupTTTGTTTTGTTTTGTTTTGT||||||,TACAAAACAAAACAAAACAAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|89/311|c.23030-29_23030-10dupTTTGTTTTGTTTTGTTTTGT||||||,TACAAAACAAAACAAAACAAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+24681_13657+24700dupTTTGTTTTGTTTTGTTTTGT||||||,TACAAAACAAAACAAAACAAA|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+24681_13858+24700dupTTTGTTTTGTTTTGTTTTGT||||||;CLINVAR_ALLELEID=178129;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178713382_178713401dup;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=71393436	GT:AD:DP:GQ:PL	0/1:5,7:12:99:276,0,818
chr2	178714003	rs2562839;46784	G	A	468.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.344;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.866;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562839;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|92/363|c.26655C>T|p.Ser8885Ser|26880/109222|26655/107976|8885/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|90/313|c.25704C>T|p.Ser8568Ser|25929/104299|25704/103053|8568/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|89/312|c.22923C>T|p.Ser7641Ser|23148/101518|22923/100272|7641/33423||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+24079C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+24079C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+24079C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2227;p3_1000G_AF=0.444688;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=20000;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179578730;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1514,2252;ESP6500_AA_GTC=311,892,680;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=168;ESP6500_EA_AC=1660,6590;ESP6500_EA_GTC=158,1344,2623;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178714003;ESP6500_GTC=469,2236,3303;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+24079C>T,NM_133432.3:c.13657+24079C>T,NM_133378.4:c.22923C>T,NM_003319.4:c.13282+24079C>T,NM_001267550.1:c.26655C>T,NM_001256850.1:c.25704C>T;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(S7641),.,NM_001267550.1:p.(S8885),NM_001256850.1:p.(S8568);ESP6500_MAF=20.1212,40.2018,26.4148;ESP6500_TAC=3174,8842;CLINVAR_AF_ESP=0.2642;CLINVAR_AF_EXAC=0.30605;CLINVAR_AF_TGP=0.4447;CLINVAR_ALLELEID=55949;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178714003G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27181;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562839	GT:AD:DP:GQ:PL	0/1:35,20:55:99:497,0,898
chr2	178714210	rs2742330	A	G	838.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.5;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=5.379;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.596;SOR=1.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742330;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|91/362|c.26483-35T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|89/312|c.25532-35T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+23872T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|88/311|c.22751-35T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+23872T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+23872T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=403;p3_1000G_AF=0.0804712;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=20358;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179578937;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=276,3408;ESP6500_AA_GTC=14,248,1580;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=194,7952;ESP6500_EA_GTC=2,190,3881;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178714210;ESP6500_GTC=16,438,5461;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+23872T>C,NM_133432.3:c.13657+23872T>C,NM_133378.4:c.22751-35T>C,NM_003319.4:c.13282+23872T>C,NM_001267550.1:c.26483-35T>C,NM_001256850.1:c.25532-35T>C;ESP6500_MAF=2.3815,7.4919,3.973;ESP6500_TAC=470,11360	GT:AD:DP:GQ:PL	0/1:29,25:54:99:867,0,801
chr2	178714485	rs2562838;46776	T	C	1434.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.629;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=0.411;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562838;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|91/363|c.26289A>G|p.Glu8763Glu|26514/109222|26289/107976|8763/35991||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|89/313|c.25338A>G|p.Glu8446Glu|25563/104299|25338/103053|8446/34350||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|88/312|c.22557A>G|p.Glu7519Glu|22782/101518|22557/100272|7519/33423||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+23597A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+23597A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+23597A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=19704;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179579212;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1989,1739;ESP6500_AA_GTC=543,903,418;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=63;ESP6500_EA_AC=1654,6538;ESP6500_EA_GTC=157,1340,2599;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178714485;ESP6500_GTC=700,2243,3017;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+23597A>G,NM_133432.3:c.13657+23597A>G,NM_133378.4:c.22557A>G,NM_003319.4:c.13282+23597A>G,NM_001267550.1:c.26289A>G,NM_001256850.1:c.25338A>G;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(E7519),.,NM_001267550.1:p.(E8763),NM_001256850.1:p.(E8446);ESP6500_MAF=20.1904,46.647,30.5621;ESP6500_TAC=3643,8277;CLINVAR_AF_ESP=0.3056;CLINVAR_AF_EXAC=0.31966;CLINVAR_AF_TGP=0.4834;CLINVAR_ALLELEID=55941;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178714485T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27212;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562838	GT:AD:DP:GQ:PL	0/1:20,51:71:99:1463,0,493
chr2	178714639	rs2627044	G	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.134;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=1.33;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2627044;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|90/362|c.26201-66C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|88/312|c.25250-66C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+23443C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|87/311|c.22469-66C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+23443C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+23443C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=401;p3_1000G_AF=0.0800719;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=20550;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179579366;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:337,0,166
chr2	178714967	rs2562837;137847	T	A	440.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.909;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.713;SOR=0.301;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562837;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|90/362|c.26200+19A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|88/312|c.25249+19A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+23115A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|87/311|c.22468+19A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+23115A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+23115A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=20268;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0318;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179579694;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=232,3846;ESP6500_AA_GTC=10,212,1817;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=139;ESP6500_EA_AC=198,8168;ESP6500_EA_GTC=2,194,3987;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178714967;ESP6500_GTC=12,406,5804;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+23115A>T,NM_133432.3:c.13657+23115A>T,NM_133378.4:c.22468+19A>T,NM_003319.4:c.13282+23115A>T,NM_001267550.1:c.26200+19A>T,NM_001256850.1:c.25249+19A>T;ESP6500_MAF=2.3667,5.6891,3.4555;ESP6500_TAC=430,12014;CLINVAR_AF_ESP=0.0346;CLINVAR_AF_EXAC=0.05070;CLINVAR_AF_TGP=0.0755;CLINVAR_ALLELEID=141550;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178714967T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562837	GT:AD:DP:GQ:PL	0/1:20,17:37:99:469,0,569
chr2	178715095	rs2562836;46773	T	A	930.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.776;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-2.06;SOR=0.781;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562836;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|90/363|c.26091A>T|p.Leu8697Leu|26316/109222|26091/107976|8697/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|88/313|c.25140A>T|p.Leu8380Leu|25365/104299|25140/103053|8380/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|87/312|c.22359A>T|p.Leu7453Leu|22584/101518|22359/100272|7453/33423||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+22987A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+22987A>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+22987A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2226;p3_1000G_AF=0.444489;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=20441;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.2237;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179579822;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4714;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1560,2344;ESP6500_AA_GTC=323,914,715;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=305;ESP6500_EA_AC=1660,6618;ESP6500_EA_GTC=160,1340,2639;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178715095;ESP6500_GTC=483,2254,3354;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+22987A>T,NM_133432.3:c.13657+22987A>T,NM_133378.4:c.22359A>T,NM_003319.4:c.13282+22987A>T,NM_001267550.1:c.26091A>T,NM_001256850.1:c.25140A>T;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(L7453),.,NM_001267550.1:p.(L8697),NM_001256850.1:p.(L8380);ESP6500_MAF=20.0532,39.959,26.4324;ESP6500_TAC=3220,8962;CLINVAR_AF_ESP=0.2643;CLINVAR_AF_EXAC=0.30620;CLINVAR_AF_TGP=0.4445;CLINVAR_ALLELEID=55938;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178715095T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27226;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562836	GT:AD:DP:GQ:PL	0/1:39,43:82:99:959,0,975
chr2	178715341	rs2562835	A	C	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=0.202;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562835;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|89/362|c.25922-77T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|87/312|c.24971-77T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+22741T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|86/311|c.22190-77T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+22741T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+22741T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=21797;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179580068;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:294,0,176
chr2	178715707	rs2742329;46766	A	G	452.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.311;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.489;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.52;SOR=1.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742329;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|89/363|c.25707T>C|p.Tyr8569Tyr|25932/109222|25707/107976|8569/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|87/313|c.24756T>C|p.Tyr8252Tyr|24981/104299|24756/103053|8252/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|86/312|c.21975T>C|p.Tyr7325Tyr|22200/101518|21975/100272|7325/33423||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+22375T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+22375T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+22375T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=254;p3_1000G_AF=0.0507188;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=19787;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179580434;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=19,3687;ESP6500_AA_GTC=0,19,1834;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-6.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=176,8016;ESP6500_EA_GTC=2,172,3922;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178715707;ESP6500_GTC=2,191,5756;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+22375T>C,NM_133432.3:c.13657+22375T>C,NM_133378.4:c.21975T>C,NM_003319.4:c.13282+22375T>C,NM_001267550.1:c.25707T>C,NM_001256850.1:c.24756T>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(Y7325),.,NM_001267550.1:p.(Y8569),NM_001256850.1:p.(Y8252);ESP6500_MAF=2.1484,0.5127,1.6389;ESP6500_TAC=195,11703;CLINVAR_AF_ESP=0.0164;CLINVAR_AF_EXAC=0.05432;CLINVAR_AF_TGP=0.0507;CLINVAR_ALLELEID=55931;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178715707A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27269;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2742329	GT:AD:DP:GQ:PL	0/1:13,18:31:99:481,0,349
chr2	178715856	rs2562834	T	C	103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.508;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562834;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|88/362|c.25640-82A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|86/312|c.24689-82A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+22226A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|85/311|c.21908-82A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+22226A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+22226A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1616;p3_1000G_AF=0.322684;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=18902;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.1879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179580583;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:132,0,116
chr2	178717108	rs2562832;46763	C	A	254.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.301;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=2.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.37;ReadPosRankSum=1.25;SOR=0.315;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562832;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|88/363|c.25626G>T|p.Gln8542His|25851/109222|25626/107976|8542/35991||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|86/313|c.24675G>T|p.Gln8225His|24900/104299|24675/103053|8225/34350||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|85/312|c.21894G>T|p.Gln7298His|22119/101518|21894/100272|7298/33423||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+20974G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+20974G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+20974G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=257;p3_1000G_AF=0.0513179;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=18292;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179581835;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=19,3805;ESP6500_AA_GTC=0,19,1893;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-7.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=53;ESP6500_EA_AC=177,8079;ESP6500_EA_GTC=2,173,3953;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:missense,NM_003319.4:intron,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178717108;ESP6500_GS=.,.,24,.,24,24;ESP6500_GTC=2,192,5846;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+20974G>T,NM_133432.3:c.13657+20974G>T,NM_133378.4:c.21894G>T,NM_003319.4:c.13282+20974G>T,NM_001267550.1:c.25626G>T,NM_001256850.1:c.24675G>T;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(Q7298H),.,NM_001267550.1:p.(Q8542H),NM_001256850.1:p.(Q8225H);ESP6500_MAF=2.1439,0.4969,1.6225;ESP6500_TAC=196,11884;CLINVAR_AF_ESP=0.0162;CLINVAR_AF_EXAC=0.03971;CLINVAR_AF_TGP=0.0513;CLINVAR_ALLELEID=55928;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178717108C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27279;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562832	GT:AD:DP:GQ:PL	0/1:26,14:40:99:283,0,770
chr2	178717810	rs2627043;46750	G	T	484.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.837;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=1.053;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=-0.859;SOR=0.853;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2627043;dbSNPBuildID=100;ANN=T|missense_variant&splice_region_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|87/363|c.25064C>A|p.Ala8355Glu|25289/109222|25064/107976|8355/35991||,T|missense_variant&splice_region_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|85/313|c.24113C>A|p.Ala8038Glu|24338/104299|24113/103053|8038/34350||,T|missense_variant&splice_region_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|84/312|c.21332C>A|p.Ala7111Glu|21557/101518|21332/100272|7111/33423||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+20272C>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+20272C>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+20272C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2228;p3_1000G_AF=0.444888;p3_1000G_AFR_AF=0.4637;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=21070;p3_1000G_EAS_AF=0.6577;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179582537;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1507,2191;ESP6500_AA_GTC=316,875,658;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=34;ESP6500_EA_AC=1653,6537;ESP6500_EA_GTC=157,1339,2599;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:missense-near-splice,NM_003319.4:intron,NM_001267550.1:missense-near-splice,NM_001256850.1:missense-near-splice;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178717810;ESP6500_GS=.,.,107,.,107,107;ESP6500_GTC=473,2214,3257;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+20272C>A,NM_133432.3:c.13657+20272C>A,NM_133378.4:c.21332C>A,NM_003319.4:c.13282+20272C>A,NM_001267550.1:c.25064C>A,NM_001256850.1:c.24113C>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(A7111E),.,NM_001267550.1:p.(A8355E),NM_001256850.1:p.(A8038E);ESP6500_MAF=20.1832,40.7518,26.5814;ESP6500_TAC=3160,8728;CLINVAR_AF_ESP=0.2658;CLINVAR_AF_EXAC=0.30877;CLINVAR_AF_TGP=0.4449;CLINVAR_ALLELEID=55915;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178717810G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27263;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2627043	GT:AD:DP:GQ:PL	0/1:39,20:59:99:513,0,1104
chr2	178718590	rs72648978;46734	G	A	564.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.632;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.252;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.394;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72648978;dbSNPBuildID=130;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|85/363|c.24516C>T|p.Thr8172Thr|24741/109222|24516/107976|8172/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|83/313|c.23565C>T|p.Thr7855Thr|23790/104299|23565/103053|7855/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|82/312|c.20784C>T|p.Thr6928Thr|21009/101518|20784/100272|6928/33423||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+19492C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+19492C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+19492C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=368;p3_1000G_AF=0.0734824;p3_1000G_AFR_AF=0.0802;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=20597;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0.0944;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179583317;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=267,3461;ESP6500_AA_GTC=15,237,1612;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=51;ESP6500_EA_AC=907,7331;ESP6500_EA_GTC=66,775,3278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178718590;ESP6500_GTC=81,1012,4890;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+19492C>T,NM_133432.3:c.13657+19492C>T,NM_133378.4:c.20784C>T,NM_003319.4:c.13282+19492C>T,NM_001267550.1:c.24516C>T,NM_001256850.1:c.23565C>T;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(T6928),.,NM_001267550.1:p.(T8172),NM_001256850.1:p.(T7855);ESP6500_MAF=11.01,7.162,9.8111;ESP6500_TAC=1174,10792;CLINVAR_AF_ESP=0.0981;CLINVAR_AF_EXAC=0.08972;CLINVAR_AF_TGP=0.0735;CLINVAR_ALLELEID=55899;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178718590G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26920;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=72648978	GT:AD:DP:GQ:PL	0/1:18,21:39:99:593,0,557
chr2	178720539	rs2562831;46714	C	T	991.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2562831;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|80/363|c.23223G>A|p.Gln7741Gln|23448/109222|23223/107976|7741/35991||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|78/313|c.22272G>A|p.Gln7424Gln|22497/104299|22272/103053|7424/34350||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|77/312|c.19491G>A|p.Gln6497Gln|19716/101518|19491/100272|6497/33423||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+17543G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+17543G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+17543G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4918;p3_1000G_AF=0.982029;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18397;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179585266;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3424,218;ESP6500_AA_GTC=1612,200,9;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=75;ESP6500_EA_AC=8139,1;ESP6500_EA_GTC=4069,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178720539;ESP6500_GTC=5681,201,9;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+17543G>A,NM_133432.3:c.13657+17543G>A,NM_133378.4:c.19491G>A,NM_003319.4:c.13282+17543G>A,NM_001267550.1:c.23223G>A,NM_001256850.1:c.22272G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(Q6497),.,NM_001267550.1:p.(Q7741),NM_001256850.1:p.(Q7424);ESP6500_MAF=0.0123,5.9857,1.8588;ESP6500_TAC=11563,219;CLINVAR_ALLELEID=55879;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178720539C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26937;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562831	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1020,93,0
chr2	178720666	rs2562830;46710	A	G	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.921;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562830;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|79/362|c.23099-3T>C||||||,G|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|77/312|c.22148-3T>C||||||,G|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|76/311|c.19367-3T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+17416T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+17416T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+17416T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2304;p3_1000G_AF=0.460064;p3_1000G_AFR_AF=0.5129;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=17443;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179585393;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1701,1937;ESP6500_AA_GTC=410,881,528;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=1614,6518;ESP6500_EA_GTC=155,1304,2607;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178720666;ESP6500_GTC=565,2185,3135;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+17416T>C,NM_133432.3:c.13657+17416T>C,NM_133378.4:c.19367-3T>C,NM_003319.4:c.13282+17416T>C,NM_001267550.1:c.23099-3T>C,NM_001256850.1:c.22148-3T>C;ESP6500_MAF=19.8475,46.7565,28.1648;ESP6500_TAC=3315,8455;CLINVAR_AF_ESP=0.2817;CLINVAR_AF_EXAC=0.32316;CLINVAR_AF_TGP=0.4601;CLINVAR_ALLELEID=55875;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178720666A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27304;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562830	GT:AD:DP:GQ:PL	0/1:5,3:8:99:104,0,158
chr2	178721236	rs2742328	A	G	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-2.236;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742328;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|78/362|c.22817-34T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|76/312|c.21866-34T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+16846T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|75/311|c.19085-34T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+16846T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+16846T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=257;p3_1000G_AF=0.0513179;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=14742;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179585963;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=20,3542;ESP6500_AA_GTC=0,20,1761;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=170,7910;ESP6500_EA_GTC=2,166,3872;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178721236;ESP6500_GTC=2,186,5633;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+16846T>C,NM_133432.3:c.13657+16846T>C,NM_133378.4:c.19085-34T>C,NM_003319.4:c.13282+16846T>C,NM_001267550.1:c.22817-34T>C,NM_001256850.1:c.21866-34T>C;ESP6500_MAF=2.104,0.5615,1.632;ESP6500_TAC=190,11452	GT:AD:DP:GQ:PL	0/1:8,10:18:99:320,0,221
chr2	178722960	rs2742327	T	C	784.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=5.036;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.716;SOR=1.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742327;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|75/362|c.21962-23A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|73/312|c.21011-23A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+15122A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|72/311|c.18230-23A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+15122A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+15122A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2440;p3_1000G_AF=0.48722;p3_1000G_AFR_AF=0.612;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=20869;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179587687;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2061,1807;ESP6500_AA_GTC=563,935,436;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=1674,6630;ESP6500_EA_GTC=159,1356,2637;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178722960;ESP6500_GTC=722,2291,3073;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+15122A>G,NM_133432.3:c.13657+15122A>G,NM_133378.4:c.18230-23A>G,NM_003319.4:c.13282+15122A>G,NM_001267550.1:c.21962-23A>G,NM_001256850.1:c.21011-23A>G;ESP6500_MAF=20.159,46.7166,30.6852;ESP6500_TAC=3735,8437	GT:AD:DP:GQ:PL	0/1:36,29:65:99:813,0,967
chr2	178727434	rs2255480	A	G	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.78;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=1.28;SOR=3.383;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2255480;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|68/362|c.19994-63T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|66/312|c.19043-63T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+10648T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|65/311|c.16262-63T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+10648T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+10648T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=257;p3_1000G_AF=0.0513179;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=21792;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179592161;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:247,0,260
chr2	178727997	rs2627042	A	G	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.8;ReadPosRankSum=-0.533;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2627042;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|67/362|c.19714+113T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|65/312|c.18763+113T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+10085T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|64/311|c.15982+113T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+10085T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+10085T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=893;p3_1000G_AF=0.178315;p3_1000G_AFR_AF=0.1891;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=19373;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179592724;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,7:11:99:0|1:178727997_A_G:279,0,271
chr2	178728008	rs2562854	C	A	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.361;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.14;ReadPosRankSum=0.158;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562854;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|67/362|c.19714+102G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|65/312|c.18763+102G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+10074G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|64/311|c.15982+102G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+10074G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+10074G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=257;p3_1000G_AF=0.0513179;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0274;p3_1000G_AN=5008;p3_1000G_DP=19313;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.0288;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179592735;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,8:13:99:0|1:178727997_A_G:290,0,309
chr2	178730390	rs17076;137838	C	G	856.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.343;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.07;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.624;SOR=0.906;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17076;dbSNPBuildID=60;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|61/362|c.18029-19G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|59/312|c.17078-19G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+7692G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|58/311|c.14297-19G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+7692G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+7692G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1743;p3_1000G_AF=0.348043;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=19088;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.1889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179595117;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=901,2715;ESP6500_AA_GTC=110,681,1017;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_60;ESP6500_DP=23;ESP6500_EA_AC=1459,6697;ESP6500_EA_GTC=127,1205,2746;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178730390;ESP6500_GTC=237,1886,3763;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+7692G>C,NM_133432.3:c.13657+7692G>C,NM_133378.4:c.14297-19G>C,NM_003319.4:c.13282+7692G>C,NM_001267550.1:c.18029-19G>C,NM_001256850.1:c.17078-19G>C;ESP6500_MAF=17.8887,24.917,20.0476;ESP6500_TAC=2360,9412;CLINVAR_AF_ESP=0.2005;CLINVAR_AF_EXAC=0.25677;CLINVAR_AF_TGP=0.3480;CLINVAR_ALLELEID=141541;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178730390C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17076	GT:AD:DP:GQ:PL	0/1:22,29:51:99:885,0,632
chr2	178730850	rs35147775;rs72394294;rs555154960;rs576861043	GT	G	303.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.91;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-1.597;SOR=0.375;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72394294;dbSNPBuildID=137,126;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|60/362|c.17741-59delA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|58/312|c.16790-59delA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+7231delA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|57/311|c.14009-59delA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+7231delA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+7231delA||||||;p3_1000G_AC=547;p3_1000G_AF=0.109225;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=19246;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179595577;p3_1000G_GRCH37_REF=GT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:6,15:21:99:341,0,106
chr2	178735836	rs2742348;46590	G	A	2970.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.95;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2742348;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|50/363|c.14610C>T|p.Ser4870Ser|14835/109222|14610/107976|4870/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|48/313|c.13659C>T|p.Ser4553Ser|13884/104299|13659/103053|4553/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|47/312|c.10878C>T|p.Ser3626Ser|11103/101518|10878/100272|3626/33423||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+2246C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+2246C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+2246C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4917;p3_1000G_AF=0.981829;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=21596;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179600563;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3512,226;ESP6500_AA_GTC=1652,208,9;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-4.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=91;ESP6500_EA_AC=8225,1;ESP6500_EA_GTC=4112,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:coding-synonymous,NM_003319.4:intron,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178735836;ESP6500_GTC=5764,209,9;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+2246C>T,NM_133432.3:c.13657+2246C>T,NM_133378.4:c.10878C>T,NM_003319.4:c.13282+2246C>T,NM_001267550.1:c.14610C>T,NM_001256850.1:c.13659C>T;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(S3626),.,NM_001267550.1:p.(S4870),NM_001256850.1:p.(S4553);ESP6500_MAF=0.0122,6.046,1.8974;ESP6500_TAC=11737,227;CLINVAR_ALLELEID=55755;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178735836G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26959;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2742348	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2999,288,0
chr2	178735921	rs2742347;46586	C	T	836.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.71;SOR=0.705;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742347;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|50/363|c.14525G>A|p.Arg4842Lys|14750/109222|14525/107976|4842/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|48/313|c.13574G>A|p.Arg4525Lys|13799/104299|13574/103053|4525/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|47/312|c.10793G>A|p.Arg3598Lys|11018/101518|10793/100272|3598/33423||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|46/190|c.13282+2161G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|47/191|c.13657+2161G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|47/191|c.13858+2161G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=725;p3_1000G_AF=0.144768;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=20242;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.0517;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179600648;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.044;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=789,3093;ESP6500_AA_GTC=83,623,1235;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=127;ESP6500_EA_AC=397,7893;ESP6500_EA_GTC=13,371,3761;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133378.4:missense,NM_003319.4:intron,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178735921;ESP6500_GS=.,.,26,.,26,26;ESP6500_GTC=96,994,4996;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13858+2161G>A,NM_133432.3:c.13657+2161G>A,NM_133378.4:c.10793G>A,NM_003319.4:c.13282+2161G>A,NM_001267550.1:c.14525G>A,NM_001256850.1:c.13574G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133378.4:p.(R3598K),.,NM_001267550.1:p.(R4842K),NM_001256850.1:p.(R4525K);ESP6500_MAF=4.7889,20.3246,9.7437;ESP6500_TAC=1186,10986;CLINVAR_AF_ESP=0.0974;CLINVAR_AF_EXAC=0.09586;CLINVAR_AF_TGP=0.1448;CLINVAR_ALLELEID=55751;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178735921C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27324;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2742347	GT:AD:DP:GQ:PL	0/1:39,32:71:99:865,0,1204
chr2	178739433	rs1883085;47840	T	G	795.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=1.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.79;SOR=0.961;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1883085;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|48/363|c.13800A>C|p.Leu4600Phe|14025/109222|13800/107976|4600/35991||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|46/313|c.12849A>C|p.Leu4283Phe|13074/104299|12849/103053|4283/34350||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|45/191|c.12711A>C|p.Leu4237Phe|12936/82027|12711/80781|4237/26926||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|46/192|c.13086A>C|p.Leu4362Phe|13311/82402|13086/81156|4362/27051||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|46/192|c.13287A>C|p.Leu4429Phe|13512/82603|13287/81357|4429/27118||,G|downstream_gene_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding||c.*6152A>C|||||4976|,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10361-1073A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=382;p3_1000G_AF=0.076278;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=20847;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179604160;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=54,3852;ESP6500_AA_GTC=0,54,1899;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=127;ESP6500_EA_AC=358,7940;ESP6500_EA_GTC=12,334,3803;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:intron,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178739433;ESP6500_GS=22,22,.,22,22,22;ESP6500_GTC=12,388,5702;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13287A>C,NM_133432.3:c.13086A>C,NM_133378.4:c.10361-1073A>C,NM_003319.4:c.12711A>C,NM_001267550.1:c.13800A>C,NM_001256850.1:c.12849A>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(L4429F),NM_133432.3:p.(L4362F),.,NM_003319.4:p.(L4237F),NM_001267550.1:p.(L4600F),NM_001256850.1:p.(L4283F);ESP6500_MAF=4.3143,1.3825,3.3759;ESP6500_PH=benign:0.0,benign:0.0,.,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=412,11792;CLINVAR_AF_ESP=0.0338;CLINVAR_AF_EXAC=0.07226;CLINVAR_AF_TGP=0.0763;CLINVAR_ALLELEID=57004;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000002.12:g.178739433T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q8WZ42#VAR_026636;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1883085	GT:AD:DP:GQ:PL	0/1:40,31:71:99:824,0,1110
chr2	178739639	rs2562829;47838	T	G	590.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.58;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=13.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.478;SOR=2.168;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2562829;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|48/363|c.13594A>C|p.Thr4532Pro|13819/109222|13594/107976|4532/35991||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|46/313|c.12643A>C|p.Thr4215Pro|12868/104299|12643/103053|4215/34350||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|45/191|c.12505A>C|p.Thr4169Pro|12730/82027|12505/80781|4169/26926||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|46/192|c.12880A>C|p.Thr4294Pro|13105/82402|12880/81156|4294/27051||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|46/192|c.13081A>C|p.Thr4361Pro|13306/82603|13081/81357|4361/27118||,G|downstream_gene_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding||c.*5946A>C|||||4770|,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10361-1279A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=381;p3_1000G_AF=0.0760783;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=22457;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179604366;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=52,3674;ESP6500_AA_GTC=0,52,1811;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=91;ESP6500_EA_AC=357,7857;ESP6500_EA_GTC=12,333,3762;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:intron,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178739639;ESP6500_GS=38,38,.,38,38,38;ESP6500_GTC=12,385,5573;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.13081A>C,NM_133432.3:c.12880A>C,NM_133378.4:c.10361-1279A>C,NM_003319.4:c.12505A>C,NM_001267550.1:c.13594A>C,NM_001256850.1:c.12643A>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(T4361P),NM_133432.3:p.(T4294P),.,NM_003319.4:p.(T4169P),NM_001267550.1:p.(T4532P),NM_001256850.1:p.(T4215P);ESP6500_MAF=4.3462,1.3956,3.4255;ESP6500_PH=benign:0.0,benign:0.0,.,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=409,11531;CLINVAR_AF_ESP=0.0343;CLINVAR_AF_EXAC=0.07227;CLINVAR_AF_TGP=0.0761;CLINVAR_ALLELEID=57002;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000002.12:g.178739639T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q8WZ42#VAR_026635;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2562829	GT:AD:DP:GQ:PL	0/1:33,21:54:99:619,0,943
chr2	178740015	rs1883084;47836	G	A	545.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.334;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.555;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=2.1;SOR=0.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1883084;dbSNPBuildID=92;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|48/363|c.13218C>T|p.Ala4406Ala|13443/109222|13218/107976|4406/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|46/313|c.12267C>T|p.Ala4089Ala|12492/104299|12267/103053|4089/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|45/191|c.12129C>T|p.Ala4043Ala|12354/82027|12129/80781|4043/26926||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|46/192|c.12504C>T|p.Ala4168Ala|12729/82402|12504/81156|4168/27051||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|46/192|c.12705C>T|p.Ala4235Ala|12930/82603|12705/81357|4235/27118||,A|downstream_gene_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding||c.*5570C>T|||||4394|,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10361-1655C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=384;p3_1000G_AF=0.0766773;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=18861;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179604742;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=58,3728;ESP6500_AA_GTC=0,58,1835;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-10.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=66;ESP6500_EA_AC=356,7862;ESP6500_EA_GTC=12,332,3765;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:intron,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178740015;ESP6500_GTC=12,390,5600;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.12705C>T,NM_133432.3:c.12504C>T,NM_133378.4:c.10361-1655C>T,NM_003319.4:c.12129C>T,NM_001267550.1:c.13218C>T,NM_001256850.1:c.12267C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(A4235),NM_133432.3:p.(A4168),.,NM_003319.4:p.(A4043),NM_001267550.1:p.(A4406),NM_001256850.1:p.(A4089);ESP6500_MAF=4.332,1.532,3.4489;ESP6500_TAC=414,11590;CLINVAR_AF_ESP=0.0345;CLINVAR_AF_EXAC=0.07248;CLINVAR_AF_TGP=0.0767;CLINVAR_ALLELEID=57000;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000002.12:g.178740015G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1883084	GT:AD:DP:GQ:PL	0/1:24,22:46:99:574,0,612
chr2	178740453	rs746578;47831	C	A	623.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.451;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.545;SOR=0.623;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs746578;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|48/363|c.12780G>T|p.Ala4260Ala|13005/109222|12780/107976|4260/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|46/313|c.11829G>T|p.Ala3943Ala|12054/104299|11829/103053|3943/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|45/191|c.11691G>T|p.Ala3897Ala|11916/82027|11691/80781|3897/26926||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|46/192|c.12066G>T|p.Ala4022Ala|12291/82402|12066/81156|4022/27051||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|46/192|c.12267G>T|p.Ala4089Ala|12492/82603|12267/81357|4089/27118||,A|downstream_gene_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding||c.*5132G>T|||||3956|,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10361-2093G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=381;p3_1000G_AF=0.0760783;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=20859;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179605180;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;CLINVAR_ALLELEID=56995;CLINVAR_CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000002.12:g.178740453C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=746578	GT:AD:DP:GQ:PL	0/1:35,24:59:99:652,0,1062
chr2	178740978	rs2742357;47824	A	G	748.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.23;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.33;SOR=0.626;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2742357;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|48/363|c.12255T>C|p.Ile4085Ile|12480/109222|12255/107976|4085/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|46/313|c.11304T>C|p.Ile3768Ile|11529/104299|11304/103053|3768/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|45/191|c.11166T>C|p.Ile3722Ile|11391/82027|11166/80781|3722/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|46/192|c.11541T>C|p.Ile3847Ile|11766/82402|11541/81156|3847/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|46/192|c.11742T>C|p.Ile3914Ile|11967/82603|11742/81357|3914/27118||,G|downstream_gene_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding||c.*4607T>C|||||3431|,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10361-2618T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=381;p3_1000G_AF=0.0760783;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=21973;p3_1000G_EAS_AF=0.1935;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179605705;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=52,3668;ESP6500_AA_GTC=0,52,1808;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-0.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=105;ESP6500_EA_AC=358,7840;ESP6500_EA_GTC=12,334,3753;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133378.4:intron,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178740978;ESP6500_GTC=12,386,5561;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.11742T>C,NM_133432.3:c.11541T>C,NM_133378.4:c.10361-2618T>C,NM_003319.4:c.11166T>C,NM_001267550.1:c.12255T>C,NM_001256850.1:c.11304T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(I3914),NM_133432.3:p.(I3847),.,NM_003319.4:p.(I3722),NM_001267550.1:p.(I4085),NM_001256850.1:p.(I3768);ESP6500_MAF=4.3669,1.3978,3.4402;ESP6500_TAC=410,11508;CLINVAR_AF_ESP=0.0344;CLINVAR_AF_EXAC=0.07229;CLINVAR_AF_TGP=0.0761;CLINVAR_ALLELEID=56988;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000002.12:g.178740978A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2742357	GT:AD:DP:GQ:PL	0/1:35,27:62:99:777,0,837
chr2	178741811	rs2627037;47807	G	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.514;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.318;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2627037;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|48/363|c.11422C>T|p.Pro3808Ser|11647/109222|11422/107976|3808/35991||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|46/313|c.10471C>T|p.Pro3491Ser|10696/104299|10471/103053|3491/34350||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|45/191|c.10333C>T|p.Pro3445Ser|10558/82027|10333/80781|3445/26926||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|46/192|c.10708C>T|p.Pro3570Ser|10933/82402|10708/81156|3570/27051||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|46/192|c.10909C>T|p.Pro3637Ser|11134/82603|10909/81357|3637/27118||,A|downstream_gene_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding||c.*3774C>T|||||2598|,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10361-3451C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1368;p3_1000G_AF=0.273163;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=14879;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179606538;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1541,2121;ESP6500_AA_GTC=341,859,631;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=6.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=597,7563;ESP6500_EA_GTC=27,543,3510;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133378.4:intron,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178741811;ESP6500_GS=74,74,.,74,74,74;ESP6500_GTC=368,1402,4141;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10909C>T,NM_133432.3:c.10708C>T,NM_133378.4:c.10361-3451C>T,NM_003319.4:c.10333C>T,NM_001267550.1:c.11422C>T,NM_001256850.1:c.10471C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(P3637S),NM_133432.3:p.(P3570S),.,NM_003319.4:p.(P3445S),NM_001267550.1:p.(P3808S),NM_001256850.1:p.(P3491S);ESP6500_MAF=7.3162,42.0808,18.0849;ESP6500_PH=benign:0.0,benign:0.0,.,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=2138,9684;CLINVAR_AF_ESP=0.1809;CLINVAR_AF_EXAC=0.18878;CLINVAR_AF_TGP=0.2732;CLINVAR_ALLELEID=56971;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000002.12:g.178741811G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q8WZ42#VAR_040125;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2627037	GT:AD:DP:GQ:PL	0/1:10,9:19:99:237,0,255
chr2	178746984	rs66677602;47786	C	A	703.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.191;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=5.456;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.339;SOR=0.768;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs66677602;dbSNPBuildID=130;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|46/46|c.15416G>T|p.Arg5139Met|15641/18216|15416/16815|5139/5604||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|47/362|c.11312-5063G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|45/312|c.10361-5063G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|44/190|c.10223-5063G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10360+6140G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|45/191|c.10598-5063G>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|45/191|c.10799-5063G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=387;p3_1000G_AF=0.0772764;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=19447;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.0477;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179611711;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=60,4346;ESP6500_AA_AGE=56.8+/-93.2;ESP6500_AA_GTC=0,60,2143;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=122;ESP6500_EA_AC=372,8226;ESP6500_EA_AGE=122.4+/-181.4;ESP6500_EA_GTC=12,348,3939;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:missense,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178746984;ESP6500_GS=.,.,91,.,.,.,.;ESP6500_GTC=12,408,6082;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10799-5063G>T,NM_133432.3:c.10598-5063G>T,NM_133379.3:c.15416G>T,NM_133378.4:c.10360+6140G>T,NM_003319.4:c.10223-5063G>T,NM_001267550.1:c.11312-5063G>T,NM_001256850.1:c.10361-5063G>T;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133379.3:p.(R5139M),.,.,.,.;ESP6500_MAF=4.3266,1.3618,3.3221;ESP6500_PH=.,.,probably-damaging:0.994,.,.,.,.;ESP6500_TAC=432,12572;CLINVAR_AF_ESP=0.0332;CLINVAR_AF_EXAC=0.07265;CLINVAR_AF_TGP=0.0773;CLINVAR_ALLELEID=56950;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178746984C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=66677602	GT:AD:DP:GQ:PL	0/1:28,28:56:99:732,0,767
chr2	178748537	rs77419653;192176	C	T	794.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.965;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.84;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.359;SOR=0.301;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77419653;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|46/46|c.13863G>A|p.Met4621Ile|14088/18216|13863/16815|4621/5604||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|47/362|c.11311+4587G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|45/312|c.10360+4587G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|44/190|c.10222+4587G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10360+4587G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|45/191|c.10597+4587G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|45/191|c.10798+4587G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=43;p3_1000G_AF=0.00858626;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18625;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.008;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179613264;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,4404;ESP6500_AA_GTC=0,0,2202;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=109;ESP6500_EA_AC=3,8593;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4295;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:missense,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178748537;ESP6500_GS=.,.,10,.,.,.,.;ESP6500_GTC=0,3,6497;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10798+4587G>A,NM_133432.3:c.10597+4587G>A,NM_133379.3:c.13863G>A,NM_133378.4:c.10360+4587G>A,NM_003319.4:c.10222+4587G>A,NM_001267550.1:c.11311+4587G>A,NM_001256850.1:c.10360+4587G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133379.3:p.(M4621I),.,.,.,.;ESP6500_MAF=0.0349,0.0,0.0231;ESP6500_PH=.,.,benign:0.001,.,.,.,.;ESP6500_TAC=3,12997;CLINVAR_AF_ESP=0.0002;CLINVAR_AF_EXAC=0.00623;CLINVAR_AF_TGP=0.0086;CLINVAR_ALLELEID=189719;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.178748537C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=77419653	GT:AD:DP:GQ:PL	0/1:26,29:55:99:823,0,803
chr2	178750225	rs10803917;47743	A	G	3070.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.9;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10803917;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|46/46|c.12175T>C|p.Leu4059Leu|12400/18216|12175/16815|4059/5604||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|47/362|c.11311+2899T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|45/312|c.10360+2899T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|44/190|c.10222+2899T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10360+2899T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|45/191|c.10597+2899T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|45/191|c.10798+2899T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=21691;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179614952;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4056,350;ESP6500_AA_AGE=182.2+/-210.1;ESP6500_AA_GTC=1863,330,10;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=154;ESP6500_EA_AC=8591,7;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4292,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:coding-synonymous,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178750225;ESP6500_GTC=6155,337,10;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10798+2899T>C,NM_133432.3:c.10597+2899T>C,NM_133379.3:c.12175T>C,NM_133378.4:c.10360+2899T>C,NM_003319.4:c.10222+2899T>C,NM_001267550.1:c.11311+2899T>C,NM_001256850.1:c.10360+2899T>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133379.3:p.(L4059),.,.,.,.;ESP6500_MAF=0.0814,7.9437,2.7453;ESP6500_TAC=12647,357;CLINVAR_ALLELEID=56907;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178750225A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10803917	GT:AD:DP:GQ:PL	1/1:0,88:88:99:3099,264,0
chr2	178751160	rs922984;47736	T	C	974.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.947;SOR=0.684;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs922984;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|46/46|c.11240A>G|p.Asp3747Gly|11465/18216|11240/16815|3747/5604||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|47/362|c.11311+1964A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|45/312|c.10360+1964A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|44/190|c.10222+1964A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10360+1964A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|45/191|c.10597+1964A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|45/191|c.10798+1964A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3671;p3_1000G_AF=0.733027;p3_1000G_AFR_AF=0.5749;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=20549;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.9135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179615887;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2636,1764;ESP6500_AA_AGE=617.7+/-393.0;ESP6500_AA_GTC=799,1038,363;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.5;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=61;ESP6500_EA_AC=7989,599;ESP6500_EA_AGE=775.7+/-407.7;ESP6500_EA_GTC=3720,549,25;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:missense,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178751160;ESP6500_GS=.,.,94,.,.,.,.;ESP6500_GTC=4519,1587,388;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10798+1964A>G,NM_133432.3:c.10597+1964A>G,NM_133379.3:c.11240A>G,NM_133378.4:c.10360+1964A>G,NM_003319.4:c.10222+1964A>G,NM_001267550.1:c.11311+1964A>G,NM_001256850.1:c.10360+1964A>G;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133379.3:p.(D3747G),.,.,.,.;ESP6500_MAF=6.9748,40.0909,18.1937;ESP6500_PH=.,.,benign:0.0,.,.,.,.;ESP6500_TAC=10625,2363;CLINVAR_ALLELEID=56900;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178751160T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=922984	GT:AD:DP:GQ:PL	0/1:33,35:68:99:1003,0,888
chr2	178751204	rs922985;47735	C	G	2927.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=0.716;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs922985;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|46/46|c.11196G>C|p.Leu3732Phe|11421/18216|11196/16815|3732/5604||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|47/362|c.11311+1920G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|45/312|c.10360+1920G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|44/190|c.10222+1920G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10360+1920G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|45/191|c.10597+1920G>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|45/191|c.10798+1920G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20686;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179615931;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4053,351;ESP6500_AA_AGE=768.6+/-413.6;ESP6500_AA_GTC=1862,329,11;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=3.9;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=52;ESP6500_EA_AC=8585,7;ESP6500_EA_AGE=790.8+/-407.6;ESP6500_EA_GTC=4289,7,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:missense,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178751204;ESP6500_GS=.,.,22,.,.,.,.;ESP6500_GTC=6151,336,11;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10798+1920G>C,NM_133432.3:c.10597+1920G>C,NM_133379.3:c.11196G>C,NM_133378.4:c.10360+1920G>C,NM_003319.4:c.10222+1920G>C,NM_001267550.1:c.11311+1920G>C,NM_001256850.1:c.10360+1920G>C;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133379.3:p.(L3732F),.,.,.,.;ESP6500_MAF=0.0815,7.97,2.7547;ESP6500_PH=.,.,benign:0.003,.,.,.,.;ESP6500_TAC=12638,358;CLINVAR_ALLELEID=56899;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178751204C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=922985	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2956,255,0
chr2	178751267	rs922986;47733	T	C	2416.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=0.832;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs922986;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|46/46|c.11133A>G|p.Thr3711Thr|11358/18216|11133/16815|3711/5604||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|47/362|c.11311+1857A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|45/312|c.10360+1857A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|44/190|c.10222+1857A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10360+1857A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|45/191|c.10597+1857A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|45/191|c.10798+1857A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20805;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179615994;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4055,351;ESP6500_AA_AGE=179.0+/-207.6;ESP6500_AA_GTC=1862,331,10;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=81;ESP6500_EA_AC=8589,7;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4291,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:coding-synonymous,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178751267;ESP6500_GTC=6153,338,10;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10798+1857A>G,NM_133432.3:c.10597+1857A>G,NM_133379.3:c.11133A>G,NM_133378.4:c.10360+1857A>G,NM_003319.4:c.10222+1857A>G,NM_001267550.1:c.11311+1857A>G,NM_001256850.1:c.10360+1857A>G;ESP6500_HGVS_PROTEIN_VAR=.,.,NM_133379.3:p.(T3711),.,.,.,.;ESP6500_MAF=0.0814,7.9664,2.7534;ESP6500_TAC=12644,358;CLINVAR_ALLELEID=56897;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178751267T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=922986	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2445,224,0
chr2	178752043	rs397517802;47725	GAA	G	235.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.47;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=136;ANN=G|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|45/45|c.10361-6_10361-5delTT||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|47/362|c.11311+1079_11311+1080delTT||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|45/312|c.10360+1079_10360+1080delTT||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|44/190|c.10222+1079_10222+1080delTT||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|45/311|c.10360+1079_10360+1080delTT||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|45/191|c.10597+1079_10597+1080delTT||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|45/191|c.10798+1079_10798+1080delTT||||||;CLINVAR_ALLELEID=56889;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178752044_178752045delAA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=397517802	GT:AD:DP:GQ:PL	1/1:0,8:8:24:273,24,0
chr2	178754063	rs1484117	G	A	345.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.58;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1484117;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|46/362|c.11255-883C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|44/312|c.10304-883C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|43/190|c.10166-883C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|44/311|c.10304-883C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|44/191|c.10541-883C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|44/191|c.10742-883C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|44/45|c.10304-883C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19876;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179618790;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:374,30,0
chr2	178756224	rs7585334;47852	C	T	896.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.257;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.261;SOR=0.678;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7585334;dbSNPBuildID=116;ANN=T|missense_variant&splice_region_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|46/363|c.11252G>A|p.Gly3751Asp|11477/109222|11252/107976|3751/35991||,T|missense_variant&splice_region_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|44/192|c.10739G>A|p.Gly3580Asp|10964/82603|10739/81357|3580/27118||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|44/312|c.10303+2760G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|43/190|c.10165+2760G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|44/311|c.10303+2760G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|44/191|c.10540+1318G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|44/45|c.10303+2760G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4029;p3_1000G_AF=0.804513;p3_1000G_AFR_AF=0.8298;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=23003;p3_1000G_EAS_AF=0.7758;p3_1000G_EUR_AF=0.9145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179620951;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3266,620;ESP6500_AA_GTC=1372,522,49;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=153;ESP6500_EA_AC=7723,563;ESP6500_EA_GTC=3602,519,22;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:intron,NM_133379.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:missense,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178756224;ESP6500_GS=94,.,.,.,.,94,.;ESP6500_GTC=4974,1041,71;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10739G>A,NM_133432.3:c.10540+1318G>A,NM_133379.3:c.10303+2760G>A,NM_133378.4:c.10303+2760G>A,NM_003319.4:c.10165+2760G>A,NM_001267550.1:c.11252G>A,NM_001256850.1:c.10303+2760G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(G3580D),.,.,.,.,NM_001267550.1:p.(G3751D),.;ESP6500_MAF=6.7946,15.9547,9.719;ESP6500_PH=benign:0.005,.,.,.,.,benign:0.005,.;ESP6500_TAC=10989,1183;CLINVAR_ALLELEID=57016;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178756224C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7585334	GT:AD:DP:GQ:PL	0/1:43,37:80:99:925,0,1187
chr2	178759031	rs2291310;46582	C	T	578.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.226;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.108;SOR=0.838;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291310;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|44/363|c.10256G>A|p.Ser3419Asn|10481/109222|10256/107976|3419/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|44/313|c.10256G>A|p.Ser3419Asn|10481/104299|10256/103053|3419/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|43/191|c.10118G>A|p.Ser3373Asn|10343/82027|10118/80781|3373/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|44/312|c.10256G>A|p.Ser3419Asn|10481/101518|10256/100272|3419/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|43/192|c.10118G>A|p.Ser3373Asn|10343/82402|10118/81156|3373/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|43/192|c.10118G>A|p.Ser3373Asn|10343/82603|10118/81357|3373/27118||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|44/46|c.10256G>A|p.Ser3419Asn|10481/18216|10256/16815|3419/5604||;p3_1000G_AA=C|||;p3_1000G_AC=4051;p3_1000G_AF=0.808906;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=22109;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.9145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179623758;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3717,689;ESP6500_AA_AGE=762.0+/-413.1;ESP6500_AA_GTC=1572,573,58;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=133;ESP6500_EA_AC=8019,581;ESP6500_EA_AGE=793.1+/-407.5;ESP6500_EA_GTC=3742,535,23;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133379.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178759031;ESP6500_GS=46,46,46,46,46,46,46;ESP6500_GTC=5314,1108,81;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.10118G>A,NM_133432.3:c.10118G>A,NM_133379.3:c.10256G>A,NM_133378.4:c.10256G>A,NM_003319.4:c.10118G>A,NM_001267550.1:c.10256G>A,NM_001256850.1:c.10256G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(S3373N),NM_133432.3:p.(S3373N),NM_133379.3:p.(S3419N),NM_133378.4:p.(S3419N),NM_003319.4:p.(S3373N),NM_001267550.1:p.(S3419N),NM_001256850.1:p.(S3419N);ESP6500_MAF=6.7558,15.6378,9.7647;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003,benign:0.003,benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=11736,1270;CLINVAR_ALLELEID=55747;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178759031C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26968|UniProtKB_(protein):Q8WZ42#VAR_056083;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2291310	GT:AD:DP:GQ:PL	0/1:17,23:40:99:607,0,490
chr2	178759212	rs6705594	T	C	434.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6705594;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|43/362|c.10115-40A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|43/312|c.10115-40A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|42/190|c.9977-40A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|43/311|c.10115-40A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|42/191|c.9977-40A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|42/191|c.9977-40A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|43/45|c.10115-40A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21349;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179623939;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4391,13;ESP6500_AA_AGE=20.2+/-43.8;ESP6500_AA_GTC=2189,13,0;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=49;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178759212;ESP6500_GTC=6489,13,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.9977-40A>G,NM_133432.3:c.9977-40A>G,NM_133379.3:c.10115-40A>G,NM_133378.4:c.10115-40A>G,NM_003319.4:c.9977-40A>G,NM_001267550.1:c.10115-40A>G,NM_001256850.1:c.10115-40A>G;ESP6500_MAF=0.0,0.2952,0.1;ESP6500_TAC=12991,13	GT:AD:DP:GQ:PL	1/1:0,14:14:42:463,42,0
chr2	178764636	rs4894043;47707	T	C	2043.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.06;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4894043;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|42/363|c.9879A>G|p.Glu3293Glu|10104/109222|9879/107976|3293/35991||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|42/313|c.9879A>G|p.Glu3293Glu|10104/104299|9879/103053|3293/34350||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|41/191|c.9741A>G|p.Glu3247Glu|9966/82027|9741/80781|3247/26926||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|42/312|c.9879A>G|p.Glu3293Glu|10104/101518|9879/100272|3293/33423||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|41/192|c.9741A>G|p.Glu3247Glu|9966/82402|9741/81156|3247/27051||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|41/192|c.9741A>G|p.Glu3247Glu|9966/82603|9741/81357|3247/27118||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|42/46|c.9879A>G|p.Glu3293Glu|10104/18216|9879/16815|3293/5604||;p3_1000G_AA=C|||;p3_1000G_AC=4876;p3_1000G_AF=0.973642;p3_1000G_AFR_AF=0.9032;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=18514;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179629363;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4027,379;ESP6500_AA_AGE=192.3+/-217.7;ESP6500_AA_GTC=1837,353,13;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=118;ESP6500_EA_AC=8593,7;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=4293,7,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133379.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178764636;ESP6500_GTC=6130,360,13;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.9741A>G,NM_133432.3:c.9741A>G,NM_133379.3:c.9879A>G,NM_133378.4:c.9879A>G,NM_003319.4:c.9741A>G,NM_001267550.1:c.9879A>G,NM_001256850.1:c.9879A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(E3247),NM_133432.3:p.(E3247),NM_133379.3:p.(E3293),NM_133378.4:p.(E3293),NM_003319.4:p.(E3247),NM_001267550.1:p.(E3293),NM_001256850.1:p.(E3293);ESP6500_MAF=0.0814,8.6019,2.9679;ESP6500_TAC=12620,386;CLINVAR_ALLELEID=56871;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178764636T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26978;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4894043	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2072,180,0
chr2	178764734	rs2291311;47692	C	T	502.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.438;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.695;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.922;SOR=0.357;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291311;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|42/363|c.9781G>A|p.Val3261Met|10006/109222|9781/107976|3261/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|42/313|c.9781G>A|p.Val3261Met|10006/104299|9781/103053|3261/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|41/191|c.9643G>A|p.Val3215Met|9868/82027|9643/80781|3215/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|42/312|c.9781G>A|p.Val3261Met|10006/101518|9781/100272|3261/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|41/192|c.9643G>A|p.Val3215Met|9868/82402|9643/81156|3215/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|41/192|c.9643G>A|p.Val3215Met|9868/82603|9643/81357|3215/27118||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|42/46|c.9781G>A|p.Val3261Met|10006/18216|9781/16815|3261/5604||;p3_1000G_AA=c|||;p3_1000G_AC=4031;p3_1000G_AF=0.804912;p3_1000G_AFR_AF=0.8253;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=17831;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.9145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179629461;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7832;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3643,763;ESP6500_AA_AGE=754.4+/-412.5;ESP6500_AA_GTC=1508,627,68;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=92;ESP6500_EA_AC=8017,583;ESP6500_EA_AGE=793.0+/-407.5;ESP6500_EA_GTC=3740,537,23;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133379.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178764734;ESP6500_GS=21,21,21,21,21,21,21;ESP6500_GTC=5248,1164,91;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.9643G>A,NM_133432.3:c.9643G>A,NM_133379.3:c.9781G>A,NM_133378.4:c.9781G>A,NM_003319.4:c.9643G>A,NM_001267550.1:c.9781G>A,NM_001256850.1:c.9781G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(V3215M),NM_133432.3:p.(V3215M),NM_133379.3:p.(V3261M),NM_133378.4:p.(V3261M),NM_003319.4:p.(V3215M),NM_001267550.1:p.(V3261M),NM_001256850.1:p.(V3261M);ESP6500_MAF=6.7791,17.3173,10.3491;ESP6500_PH=probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=11660,1346;CLINVAR_ALLELEID=56856;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178764734C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26989|UniProtKB_(protein):Q8WZ42#VAR_040122;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2291311	GT:AD:DP:GQ:PL	0/1:25,21:46:99:531,0,643
chr2	178766487	rs2291312;47661	T	C	1032.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.49;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.428;SOR=0.727;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291312;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|41/363|c.9597A>G|p.Glu3199Glu|9822/109222|9597/107976|3199/35991||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|41/313|c.9597A>G|p.Glu3199Glu|9822/104299|9597/103053|3199/34350||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|40/191|c.9459A>G|p.Glu3153Glu|9684/82027|9459/80781|3153/26926||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|41/312|c.9597A>G|p.Glu3199Glu|9822/101518|9597/100272|3199/33423||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|40/192|c.9459A>G|p.Glu3153Glu|9684/82402|9459/81156|3153/27051||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|40/192|c.9459A>G|p.Glu3153Glu|9684/82603|9459/81357|3153/27118||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|41/46|c.9597A>G|p.Glu3199Glu|9822/18216|9597/16815|3199/5604||;p3_1000G_AA=C|||;p3_1000G_AC=840;p3_1000G_AF=0.167732;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=19941;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.0845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179631214;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=383,4023;ESP6500_AA_AGE=791.5+/-415.1;ESP6500_AA_GTC=17,349,1837;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=161;ESP6500_EA_AC=574,8026;ESP6500_EA_AGE=793.5+/-407.5;ESP6500_EA_GTC=23,528,3749;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133379.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178766487;ESP6500_GTC=40,877,5586;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.9459A>G,NM_133432.3:c.9459A>G,NM_133379.3:c.9597A>G,NM_133378.4:c.9597A>G,NM_003319.4:c.9459A>G,NM_001267550.1:c.9597A>G,NM_001256850.1:c.9597A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(E3153),NM_133432.3:p.(E3153),NM_133379.3:p.(E3199),NM_133378.4:p.(E3199),NM_003319.4:p.(E3153),NM_001267550.1:p.(E3199),NM_001256850.1:p.(E3199);ESP6500_MAF=6.6744,8.6927,7.3581;ESP6500_TAC=957,12049;CLINVAR_AF_ESP=0.0736;CLINVAR_AF_EXAC=0.14188;CLINVAR_AF_TGP=0.1677;CLINVAR_ALLELEID=56825;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178766487T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27357;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2291312	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1061,0,814
chr2	178766635	rs3816782;rs566665016	A	C	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=0.587;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816782;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|40/362|c.9472-23T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|40/312|c.9472-23T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|39/190|c.9334-23T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|40/311|c.9472-23T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|39/191|c.9334-23T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|39/191|c.9334-23T>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|40/45|c.9472-23T>G||||||;p3_1000G_AC=728;p3_1000G_AF=0.145367;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=19666;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.0765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179631362;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:12,6:18:99:170,0,320
chr2	178767983	rs2291313	T	C	1043.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=1.894;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.798;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291313;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|39/362|c.9305+31A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|39/312|c.9305+31A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|38/190|c.9167+31A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|39/311|c.9305+31A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|38/191|c.9167+31A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|38/191|c.9167+31A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|39/45|c.9305+31A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2524;p3_1000G_AF=0.503994;p3_1000G_AFR_AF=0.4085;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=19335;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.7763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179632710;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2028,2378;ESP6500_AA_AGE=564.1+/-381.3;ESP6500_AA_GTC=469,1090,644;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=126;ESP6500_EA_AC=6870,1730;ESP6500_EA_AGE=736.6+/-407.0;ESP6500_EA_GTC=2731,1408,161;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178767983;ESP6500_GTC=3200,2498,805;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.9167+31A>G,NM_133432.3:c.9167+31A>G,NM_133379.3:c.9305+31A>G,NM_133378.4:c.9305+31A>G,NM_003319.4:c.9167+31A>G,NM_001267550.1:c.9305+31A>G,NM_001256850.1:c.9305+31A>G;ESP6500_MAF=20.1163,46.0281,31.5854;ESP6500_TAC=8898,4108	GT:AD:DP:GQ:PL	0/1:37,38:75:99:1072,0,958
chr2	178768571	rs4471922	G	T	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.782;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.111;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4471922;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|38/362|c.9163+102C>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|38/312|c.9163+102C>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|37/190|c.9025+102C>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|38/311|c.9163+102C>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|37/191|c.9025+102C>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|37/191|c.9025+102C>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|38/45|c.9163+102C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2792;p3_1000G_AF=0.557508;p3_1000G_AFR_AF=0.5998;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=23602;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.7763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179633298;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:252,0,259
chr2	178769649	rs1445142745;rs794729235;202285	GTA	G	690.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=3.716;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10596477,rs72125115;dbSNPBuildID=151,136;ANN=G|sequence_feature|LOW|TTN|TTN|domain:Ig-like_17|NM_001256850.1|protein_coding|37/312|c.8902+28_8902+29delTA||||||,G|sequence_feature|LOW|TTN|TTN|domain:Ig-like_17|NM_003319.4|protein_coding|36/190|c.8764+28_8764+29delTA||||||,G|sequence_feature|LOW|TTN|TTN|domain:Ig-like_17|NM_133378.4|protein_coding|37/311|c.8902+28_8902+29delTA||||||,G|sequence_feature|LOW|TTN|TTN|domain:Ig-like_17|NM_133432.3|protein_coding|36/191|c.8764+28_8764+29delTA||||||,G|sequence_feature|LOW|TTN|TTN|domain:Ig-like_17|NM_133379.4|protein_coding|37/45|c.8902+28_8902+29delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|37/362|c.8902+28_8902+29delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|37/312|c.8902+28_8902+29delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|36/190|c.8764+28_8764+29delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|37/311|c.8902+28_8902+29delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|36/191|c.8764+28_8764+29delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|36/191|c.8764+28_8764+29delTA||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|37/45|c.8902+28_8902+29delTA||||||;CLINVAR_ALLELEID=199685;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.178769665_178769666delAT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=794729235	GT:AD:DP:GQ:PL	1/1:0,20:20:60:728,60,0
chr2	178770209	rs2306636;47527	C	T	5495.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.773;ClippingRankSum=0;DP=427;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.387;SOR=0.679;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306636;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|36/363|c.8492G>A|p.Ser2831Asn|8717/109222|8492/107976|2831/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|36/313|c.8492G>A|p.Ser2831Asn|8717/104299|8492/103053|2831/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|35/191|c.8354G>A|p.Ser2785Asn|8579/82027|8354/80781|2785/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|36/312|c.8492G>A|p.Ser2831Asn|8717/101518|8492/100272|2831/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|35/192|c.8354G>A|p.Ser2785Asn|8579/82402|8354/81156|2785/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|35/192|c.8354G>A|p.Ser2785Asn|8579/82603|8354/81357|2785/27118||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|36/46|c.8492G>A|p.Ser2831Asn|8717/18216|8492/16815|2831/5604||;p3_1000G_AA=T|||;p3_1000G_AC=407;p3_1000G_AF=0.08127;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=20935;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.0507;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179634936;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=59,4347;ESP6500_AA_AGE=820.8+/-416.4;ESP6500_AA_GTC=0,59,2144;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=6.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=184;ESP6500_EA_AC=388,8212;ESP6500_EA_AGE=802.0+/-407.4;ESP6500_EA_GTC=12,364,3924;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133379.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178770209;ESP6500_GS=46,46,46,46,46,46,46;ESP6500_GTC=12,423,6068;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.8354G>A,NM_133432.3:c.8354G>A,NM_133379.3:c.8492G>A,NM_133378.4:c.8492G>A,NM_003319.4:c.8354G>A,NM_001267550.1:c.8492G>A,NM_001256850.1:c.8492G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(S2785N),NM_133432.3:p.(S2785N),NM_133379.3:p.(S2831N),NM_133378.4:p.(S2831N),NM_003319.4:p.(S2785N),NM_001267550.1:p.(S2831N),NM_001256850.1:p.(S2831N);ESP6500_MAF=4.5116,1.3391,3.4369;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=447,12559;CLINVAR_AF_ESP=0.0344;CLINVAR_AF_EXAC=0.07594;CLINVAR_AF_TGP=0.0813;CLINVAR_ALLELEID=56691;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178770209C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27390|UniProtKB_(protein):Q8WZ42#VAR_040116;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2306636	GT:AD:DP:GQ:PL	0/1:218,208:426:99:5524,0,6112
chr2	178771123	rs2291304	T	C	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=5.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=-0.264;SOR=0.035;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291304;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|34/362|c.8116+88A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|34/312|c.8116+88A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|33/190|c.7978+88A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|34/311|c.8116+88A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|33/191|c.7978+88A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|33/191|c.7978+88A>G||||||,C|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|34/45|c.8116+88A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=408;p3_1000G_AF=0.0814696;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=22370;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179635850;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:95:95,0,230
chr2	178771155	rs4894047	C	T	519.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4894047;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|34/362|c.8116+56G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|34/312|c.8116+56G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|33/190|c.7978+56G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|34/311|c.8116+56G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|33/191|c.7978+56G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|33/191|c.7978+56G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|34/45|c.8116+56G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4847;p3_1000G_AF=0.967851;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=22078;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179635882;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:548,48,0
chr2	178773134	rs56142888;47451	C	G	599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.17;SOR=0.982;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56142888;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|33/363|c.7830G>C|p.Met2610Ile|8055/109222|7830/107976|2610/35991||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|33/313|c.7830G>C|p.Met2610Ile|8055/104299|7830/103053|2610/34350||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|32/191|c.7692G>C|p.Met2564Ile|7917/82027|7692/80781|2564/26926||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|33/312|c.7830G>C|p.Met2610Ile|8055/101518|7830/100272|2610/33423||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|32/192|c.7692G>C|p.Met2564Ile|7917/82402|7692/81156|2564/27051||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|32/192|c.7692G>C|p.Met2564Ile|7917/82603|7692/81357|2564/27118||,G|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|33/46|c.7830G>C|p.Met2610Ile|8055/18216|7830/16815|2610/5604||,G|upstream_gene_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene||n.-3792C>G|||||3792|;p3_1000G_AA=C|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=19209;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179637861;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=57,4347;ESP6500_AA_AGE=53.6+/-89.4;ESP6500_AA_GTC=0,57,2145;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=51;ESP6500_EA_AC=372,8224;ESP6500_EA_AGE=121.7+/-180.7;ESP6500_EA_GTC=12,348,3938;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133379.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178773134;ESP6500_GS=10,10,10,10,10,10,10;ESP6500_GTC=12,405,6083;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.7692G>C,NM_133432.3:c.7692G>C,NM_133379.3:c.7830G>C,NM_133378.4:c.7830G>C,NM_003319.4:c.7692G>C,NM_001267550.1:c.7830G>C,NM_001256850.1:c.7830G>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(M2564I),NM_133432.3:p.(M2564I),NM_133379.3:p.(M2610I),NM_133378.4:p.(M2610I),NM_003319.4:p.(M2564I),NM_001267550.1:p.(M2610I),NM_001256850.1:p.(M2610I);ESP6500_MAF=4.3276,1.2943,3.3;ESP6500_PH=benign:0.004,benign:0.004,benign:0.004,benign:0.004,benign:0.004,benign:0.004,benign:0.004;ESP6500_TAC=429,12571;CLINVAR_AF_ESP=0.0330;CLINVAR_AF_EXAC=0.07135;CLINVAR_AF_TGP=0.0755;CLINVAR_ALLELEID=56615;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178773134C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27410|UniProtKB_(protein):Q8WZ42#VAR_040113;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56142888	GT:AD:DP:GQ:PL	0/1:23,22:45:99:628,0,581
chr2	178773511	rs2291306;47420	G	A	666.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.736;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.83;SOR=0.421;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291306;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|32/363|c.7545C>T|p.Tyr2515Tyr|7770/109222|7545/107976|2515/35991||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|32/313|c.7545C>T|p.Tyr2515Tyr|7770/104299|7545/103053|2515/34350||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|31/191|c.7407C>T|p.Tyr2469Tyr|7632/82027|7407/80781|2469/26926||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|32/312|c.7545C>T|p.Tyr2515Tyr|7770/101518|7545/100272|2515/33423||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|31/192|c.7407C>T|p.Tyr2469Tyr|7632/82402|7407/81156|2469/27051||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|31/192|c.7407C>T|p.Tyr2469Tyr|7632/82603|7407/81357|2469/27118||,A|synonymous_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|32/46|c.7545C>T|p.Tyr2515Tyr|7770/18216|7545/16815|2515/5604||,A|upstream_gene_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene||n.-3415G>A|||||3415|;p3_1000G_AA=G|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=20564;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.0954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179638238;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=338,4068;ESP6500_AA_AGE=177.3+/-206.3;ESP6500_AA_GTC=18,302,1883;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=133;ESP6500_EA_AC=986,7614;ESP6500_EA_AGE=213.5+/-253.4;ESP6500_EA_GTC=69,848,3383;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133379.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178773511;ESP6500_GTC=87,1150,5266;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.7407C>T,NM_133432.3:c.7407C>T,NM_133379.3:c.7545C>T,NM_133378.4:c.7545C>T,NM_003319.4:c.7407C>T,NM_001267550.1:c.7545C>T,NM_001256850.1:c.7545C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(Y2469),NM_133432.3:p.(Y2469),NM_133379.3:p.(Y2515),NM_133378.4:p.(Y2515),NM_003319.4:p.(Y2469),NM_001267550.1:p.(Y2515),NM_001256850.1:p.(Y2515);ESP6500_MAF=11.4651,7.6714,10.1799;ESP6500_TAC=1324,11682;CLINVAR_AF_ESP=0.1018;CLINVAR_AF_EXAC=0.09155;CLINVAR_AF_TGP=0.0755;CLINVAR_ALLELEID=56585;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178773511G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:26998;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2291306	GT:AD:DP:GQ:PL	0/1:25,27:52:99:695,0,836
chr2	178777248	rs12476289;47098	C	T	704.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.705;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.088;SOR=0.725;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12476289;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|27/363|c.4715G>A|p.Arg1572Gln|4940/109222|4715/107976|1572/35991||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|27/313|c.4715G>A|p.Arg1572Gln|4940/104299|4715/103053|1572/34350||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|26/191|c.4577G>A|p.Arg1526Gln|4802/82027|4577/80781|1526/26926||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|27/312|c.4715G>A|p.Arg1572Gln|4940/101518|4715/100272|1572/33423||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|26/192|c.4577G>A|p.Arg1526Gln|4802/82402|4577/81156|1526/27051||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|26/192|c.4577G>A|p.Arg1526Gln|4802/82603|4577/81357|1526/27118||,T|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|27/46|c.4715G>A|p.Arg1572Gln|4940/18216|4715/16815|1572/5604||,T|non_coding_transcript_exon_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene|1/2|n.323C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=377;p3_1000G_AF=0.0752796;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=18493;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179641975;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=59,4347;ESP6500_AA_AGE=56.2+/-92.4;ESP6500_AA_GTC=1,57,2145;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20031603;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=144;ESP6500_EA_AC=370,8230;ESP6500_EA_AGE=122.5+/-181.5;ESP6500_EA_GTC=12,346,3942;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133379.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178777248;ESP6500_GS=43,43,43,43,43,43,43;ESP6500_GTC=13,403,6087;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20031603;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.4577G>A,NM_133432.3:c.4577G>A,NM_133379.3:c.4715G>A,NM_133378.4:c.4715G>A,NM_003319.4:c.4577G>A,NM_001267550.1:c.4715G>A,NM_001256850.1:c.4715G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(R1526Q),NM_133432.3:p.(R1526Q),NM_133379.3:p.(R1572Q),NM_133378.4:p.(R1572Q),NM_003319.4:p.(R1526Q),NM_001267550.1:p.(R1572Q),NM_001256850.1:p.(R1572Q);ESP6500_MAF=4.3023,1.3391,3.2985;ESP6500_PH=possibly-damaging:0.813,possibly-damaging:0.813,possibly-damaging:0.813,possibly-damaging:0.813,possibly-damaging:0.813,possibly-damaging:0.813,possibly-damaging:0.813;ESP6500_TAC=429,12577;CLINVAR_AF_ESP=0.0330;CLINVAR_AF_EXAC=0.07112;CLINVAR_AF_TGP=0.0753;CLINVAR_ALLELEID=56263;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178777248C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27433|UniProtKB_(protein):Q8WZ42#VAR_040099;CLINVAR_GENEINFO=TTN:7273|LOC101927055:101927055;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12476289	GT:AD:DP:GQ:PL	0/1:27,30:57:99:733,0,724
chr2	178777698	rs719201;47063	G	A	1530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.57;SOR=1.814;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs719201;dbSNPBuildID=86;ANN=A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|25/362|c.4480+6C>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|25/312|c.4480+6C>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|24/190|c.4342+6C>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|25/311|c.4480+6C>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|24/191|c.4342+6C>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|24/191|c.4342+6C>T||||||,A|splice_region_variant&intron_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|25/45|c.4480+6C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene|1/2|n.773G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4565;p3_1000G_AF=0.911542;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=20701;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179642425;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3784,622;ESP6500_AA_AGE=269.2+/-268.9;ESP6500_AA_GTC=1630,524,49;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=8526,74;ESP6500_EA_AGE=42.6+/-100.3;ESP6500_EA_GTC=4226,74,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178777698;ESP6500_GTC=5856,598,49;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.4342+6C>T,NM_133432.3:c.4342+6C>T,NM_133379.3:c.4480+6C>T,NM_133378.4:c.4480+6C>T,NM_003319.4:c.4342+6C>T,NM_001267550.1:c.4480+6C>T,NM_001256850.1:c.4480+6C>T;ESP6500_MAF=0.8605,14.1171,5.3514;ESP6500_TAC=12310,696;CLINVAR_ALLELEID=56228;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178777698G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27026;CLINVAR_GENEINFO=TTN:7273|LOC101927055:101927055;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=719201	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1559,141,0
chr2	178779159	rs2291302	A	G	2085.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291302;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|23/362|c.3964-41T>C||||||,G|intron_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene|1/1|n.1830+404A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|23/312|c.3964-41T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|22/190|c.3826-41T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|23/311|c.3964-41T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|22/191|c.3826-41T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|22/191|c.3826-41T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|23/45|c.3964-41T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4607;p3_1000G_AF=0.919928;p3_1000G_AFR_AF=0.8487;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=19674;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179643886;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3844,562;ESP6500_AA_AGE=762.2+/-413.1;ESP6500_AA_GTC=1677,490,36;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=8525,75;ESP6500_EA_AGE=809.2+/-407.2;ESP6500_EA_GTC=4225,75,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178779159;ESP6500_GTC=5902,565,36;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.3826-41T>C,NM_133432.3:c.3826-41T>C,NM_133379.3:c.3964-41T>C,NM_133378.4:c.3964-41T>C,NM_003319.4:c.3826-41T>C,NM_001267550.1:c.3964-41T>C,NM_001256850.1:c.3964-41T>C;ESP6500_MAF=0.8721,12.7553,4.8977;ESP6500_TAC=12369,637	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2114,192,0
chr2	178779207	rs2291301	A	G	1894.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291301;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|23/362|c.3963+22T>C||||||,G|intron_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene|1/1|n.1830+452A>G||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|23/312|c.3963+22T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|22/190|c.3825+22T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|23/311|c.3963+22T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|22/191|c.3825+22T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|22/191|c.3825+22T>C||||||,G|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|23/45|c.3963+22T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4608;p3_1000G_AF=0.920128;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=19329;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179643934;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3846,548;ESP6500_AA_AGE=706.6+/-407.4;ESP6500_AA_GTC=1679,488,30;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=8516,72;ESP6500_EA_AGE=794.0+/-407.5;ESP6500_EA_GTC=4222,72,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178779207;ESP6500_GTC=5901,560,30;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.3825+22T>C,NM_133432.3:c.3825+22T>C,NM_133379.3:c.3963+22T>C,NM_133378.4:c.3963+22T>C,NM_003319.4:c.3825+22T>C,NM_001267550.1:c.3963+22T>C,NM_001256850.1:c.3963+22T>C;ESP6500_MAF=0.8384,12.4716,4.7758;ESP6500_TAC=12362,620	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1923,174,0
chr2	178779308	rs1552280;47001	G	A	1396.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.51;SOR=0.909;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1552280;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|23/363|c.3884C>T|p.Ser1295Leu|4109/109222|3884/107976|1295/35991||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|23/313|c.3884C>T|p.Ser1295Leu|4109/104299|3884/103053|1295/34350||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|22/191|c.3746C>T|p.Ser1249Leu|3971/82027|3746/80781|1249/26926||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|23/312|c.3884C>T|p.Ser1295Leu|4109/101518|3884/100272|1295/33423||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|22/192|c.3746C>T|p.Ser1249Leu|3971/82402|3746/81156|1249/27051||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|22/192|c.3746C>T|p.Ser1249Leu|3971/82603|3746/81357|1249/27118||,A|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|23/46|c.3884C>T|p.Ser1295Leu|4109/18216|3884/16815|1295/5604||,A|intron_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene|1/1|n.1831-530G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4608;p3_1000G_AF=0.920128;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=17368;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179644035;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3841,565;ESP6500_AA_AGE=245.3+/-254.3;ESP6500_AA_GTC=1675,491,37;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=47;ESP6500_EA_AC=8524,74;ESP6500_EA_AGE=42.2+/-99.7;ESP6500_EA_GTC=4225,74,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133379.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178779308;ESP6500_GS=145,145,145,145,145,145,145;ESP6500_GTC=5900,565,37;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.3746C>T,NM_133432.3:c.3746C>T,NM_133379.3:c.3884C>T,NM_133378.4:c.3884C>T,NM_003319.4:c.3746C>T,NM_001267550.1:c.3884C>T,NM_001256850.1:c.3884C>T;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(S1249L),NM_133432.3:p.(S1249L),NM_133379.3:p.(S1295L),NM_133378.4:p.(S1295L),NM_003319.4:p.(S1249L),NM_001267550.1:p.(S1295L),NM_001256850.1:p.(S1295L);ESP6500_MAF=0.8607,12.8234,4.9139;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12365,639;CLINVAR_ALLELEID=56166;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178779308G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27035|UniProtKB_(protein):Q8WZ42#VAR_040090;CLINVAR_GENEINFO=TTN:7273|LOC101927055:101927055;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1552280	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,49:49:99:1|1:178779305_C_A:1425,147,0
chr2	178779433	rs2291308;46985	T	C	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=1.29;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291308;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|23/363|c.3759A>G|p.Arg1253Arg|3984/109222|3759/107976|1253/35991||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|23/313|c.3759A>G|p.Arg1253Arg|3984/104299|3759/103053|1253/34350||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|22/191|c.3621A>G|p.Arg1207Arg|3846/82027|3621/80781|1207/26926||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|23/312|c.3759A>G|p.Arg1253Arg|3984/101518|3759/100272|1253/33423||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|22/192|c.3621A>G|p.Arg1207Arg|3846/82402|3621/81156|1207/27051||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|22/192|c.3621A>G|p.Arg1207Arg|3846/82603|3621/81357|1207/27118||,C|synonymous_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|23/46|c.3759A>G|p.Arg1253Arg|3984/18216|3759/16815|1253/5604||,C|intron_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene|1/1|n.1831-405T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=379;p3_1000G_AF=0.0756789;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=16861;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179644160;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=57,4293;ESP6500_AA_GTC=0,57,2118;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=360,8166;ESP6500_EA_GTC=13,334,3916;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133379.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178779433;ESP6500_GTC=13,391,6034;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.3621A>G,NM_133432.3:c.3621A>G,NM_133379.3:c.3759A>G,NM_133378.4:c.3759A>G,NM_003319.4:c.3621A>G,NM_001267550.1:c.3759A>G,NM_001256850.1:c.3759A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(R1207),NM_133432.3:p.(R1207),NM_133379.3:p.(R1253),NM_133378.4:p.(R1253),NM_003319.4:p.(R1207),NM_001267550.1:p.(R1253),NM_001256850.1:p.(R1253);ESP6500_MAF=4.2224,1.3103,3.2386;ESP6500_TAC=417,12459;CLINVAR_AF_ESP=0.0324;CLINVAR_AF_EXAC=0.08582;CLINVAR_AF_TGP=0.0757;CLINVAR_ALLELEID=56150;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178779433T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27443;CLINVAR_GENEINFO=TTN:7273|LOC101927055:101927055;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2291308	GT:AD:DP:GQ:PL	0/1:8,5:13:99:139,0,218
chr2	178779577	rs2035496	G	A	54.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2035496;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|22/362|c.3730-115C>T||||||,A|intron_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene|1/1|n.1831-261G>A||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|22/312|c.3730-115C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|21/190|c.3592-115C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|22/311|c.3730-115C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|21/191|c.3592-115C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|21/191|c.3592-115C>T||||||,A|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|22/45|c.3730-115C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4616;p3_1000G_AF=0.921725;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=17850;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179644304;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:82,6,0
chr2	178780128	rs10497520;46973	T	C	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.528;SOR=0.577;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10497520;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001267550.2|protein_coding|22/363|c.3601A>G|p.Lys1201Glu|3826/109222|3601/107976|1201/35991||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_001256850.1|protein_coding|22/313|c.3601A>G|p.Lys1201Glu|3826/104299|3601/103053|1201/34350||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_003319.4|protein_coding|21/191|c.3463A>G|p.Lys1155Glu|3688/82027|3463/80781|1155/26926||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133378.4|protein_coding|22/312|c.3601A>G|p.Lys1201Glu|3826/101518|3601/100272|1201/33423||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133432.3|protein_coding|21/192|c.3463A>G|p.Lys1155Glu|3688/82402|3463/81156|1155/27051||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133437.4|protein_coding|21/192|c.3463A>G|p.Lys1155Glu|3688/82603|3463/81357|1155/27118||,C|missense_variant|MODERATE|TTN|TTN|transcript|NM_133379.4|protein_coding|22/46|c.3601A>G|p.Lys1201Glu|3826/18216|3601/16815|1201/5604||,C|downstream_gene_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene||n.*165T>C|||||165|;p3_1000G_AA=T|||;p3_1000G_AC=2505;p3_1000G_AF=0.5002;p3_1000G_AFR_AF=0.4077;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=18494;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.8569;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179644855;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2074,2332;ESP6500_AA_AGE=569.2+/-382.6;ESP6500_AA_GTC=490,1094,619;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=131;ESP6500_EA_AC=7484,1116;ESP6500_EA_AGE=767.4+/-407.6;ESP6500_EA_GTC=3260,964,76;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:missense,NM_133432.3:missense,NM_133379.3:missense,NM_133378.4:missense,NM_003319.4:missense,NM_001267550.1:missense,NM_001256850.1:missense;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178780128;ESP6500_GS=56,56,56,56,56,56,56;ESP6500_GTC=3750,2058,695;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.3463A>G,NM_133432.3:c.3463A>G,NM_133379.3:c.3601A>G,NM_133378.4:c.3601A>G,NM_003319.4:c.3463A>G,NM_001267550.1:c.3601A>G,NM_001256850.1:c.3601A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(K1155E),NM_133432.3:p.(K1155E),NM_133379.3:p.(K1201E),NM_133378.4:p.(K1201E),NM_003319.4:p.(K1155E),NM_001267550.1:p.(K1201E),NM_001256850.1:p.(K1201E);ESP6500_MAF=12.9767,47.0722,26.5108;ESP6500_PH=possibly-damaging:0.86,possibly-damaging:0.86,possibly-damaging:0.86,possibly-damaging:0.86,possibly-damaging:0.86,possibly-damaging:0.86,possibly-damaging:0.86;ESP6500_TAC=9558,3448;CLINVAR_ALLELEID=56138;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178780128T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27042|UniProtKB_(protein):Q8WZ42#VAR_040088;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10497520	GT:AD:DP:GQ:PL	0/1:25,14:39:99:379,0,659
chr2	178782819	rs55863869;46907	A	G	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-0.502;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55863869;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|18/363|c.3087T>C|p.Tyr1029Tyr|3312/109222|3087/107976|1029/35991||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|18/313|c.3087T>C|p.Tyr1029Tyr|3312/104299|3087/103053|1029/34350||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|17/191|c.2949T>C|p.Tyr983Tyr|3174/82027|2949/80781|983/26926||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|18/312|c.3087T>C|p.Tyr1029Tyr|3312/101518|3087/100272|1029/33423||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|17/192|c.2949T>C|p.Tyr983Tyr|3174/82402|2949/81156|983/27051||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|17/192|c.2949T>C|p.Tyr983Tyr|3174/82603|2949/81357|983/27118||,G|synonymous_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|18/46|c.3087T>C|p.Tyr1029Tyr|3312/18216|3087/16815|1029/5604||,G|downstream_gene_variant|MODIFIER|LOC101927055|LOC101927055|transcript|NR_120594.1|pseudogene||n.*2856A>G|||||2856|;p3_1000G_AA=A|||;p3_1000G_AC=389;p3_1000G_AF=0.0776757;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=19961;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179647546;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=63,4343;ESP6500_AA_AGE=58.7+/-95.3;ESP6500_AA_GTC=1,61,2141;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=-7.5;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=68;ESP6500_EA_AC=409,8191;ESP6500_EA_AGE=128.7+/-186.9;ESP6500_EA_GTC=13,383,3904;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133379.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178782819;ESP6500_GTC=14,444,6045;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.2949T>C,NM_133432.3:c.2949T>C,NM_133379.3:c.3087T>C,NM_133378.4:c.3087T>C,NM_003319.4:c.2949T>C,NM_001267550.1:c.3087T>C,NM_001256850.1:c.3087T>C;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(Y983),NM_133432.3:p.(Y983),NM_133379.3:p.(Y1029),NM_133378.4:p.(Y1029),NM_003319.4:p.(Y983),NM_001267550.1:p.(Y1029),NM_001256850.1:p.(Y1029);ESP6500_MAF=4.7558,1.4299,3.6291;ESP6500_TAC=472,12534;CLINVAR_AF_ESP=0.0363;CLINVAR_AF_EXAC=0.07451;CLINVAR_AF_TGP=0.0777;CLINVAR_ALLELEID=56072;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178782819A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27466;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=55863869	GT:AD:DP:GQ:PL	0/1:16,20:36:99:620,0,463
chr2	178785974	rs6715406;46774	C	T	1178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.021;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=1.113;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.98;ReadPosRankSum=-1.476;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6715406;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001267550.2|protein_coding|14/363|c.2244G>A|p.Glu748Glu|2469/109222|2244/107976|748/35991||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_001256850.1|protein_coding|14/313|c.2244G>A|p.Glu748Glu|2469/104299|2244/103053|748/34350||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_003319.4|protein_coding|13/191|c.2106G>A|p.Glu702Glu|2331/82027|2106/80781|702/26926||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133378.4|protein_coding|14/312|c.2244G>A|p.Glu748Glu|2469/101518|2244/100272|748/33423||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133432.3|protein_coding|13/192|c.2106G>A|p.Glu702Glu|2331/82402|2106/81156|702/27051||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133437.4|protein_coding|13/192|c.2106G>A|p.Glu702Glu|2331/82603|2106/81357|702/27118||,T|synonymous_variant|LOW|TTN|TTN|transcript|NM_133379.4|protein_coding|14/46|c.2244G>A|p.Glu748Glu|2469/18216|2244/16815|748/5604||;p3_1000G_AA=C|||;p3_1000G_AC=1025;p3_1000G_AF=0.204673;p3_1000G_AFR_AF=0.1445;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=20748;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0.4135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179650701;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2209;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=881,3525;ESP6500_AA_AGE=342.5+/-307.2;ESP6500_AA_GTC=91,699,1413;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=91;ESP6500_EA_AC=3489,5111;ESP6500_EA_AGE=510.8+/-377.6;ESP6500_EA_GTC=733,2023,1544;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_133437.3:coding-synonymous,NM_133432.3:coding-synonymous,NM_133379.3:coding-synonymous,NM_133378.4:coding-synonymous,NM_003319.4:coding-synonymous,NM_001267550.1:coding-synonymous,NM_001256850.1:coding-synonymous;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178785974;ESP6500_GTC=824,2722,2957;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.2106G>A,NM_133432.3:c.2106G>A,NM_133379.3:c.2244G>A,NM_133378.4:c.2244G>A,NM_003319.4:c.2106G>A,NM_001267550.1:c.2244G>A,NM_001256850.1:c.2244G>A;ESP6500_HGVS_PROTEIN_VAR=NM_133437.3:p.(E702),NM_133432.3:p.(E702),NM_133379.3:p.(E748),NM_133378.4:p.(E748),NM_003319.4:p.(E702),NM_001267550.1:p.(E748),NM_001256850.1:p.(E748);ESP6500_MAF=40.5698,19.9955,33.5999;ESP6500_TAC=4370,8636;CLINVAR_AF_ESP=0.3360;CLINVAR_AF_EXAC=0.31922;CLINVAR_AF_TGP=0.2047;CLINVAR_ALLELEID=55939;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.178785974C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27057;CLINVAR_GENEINFO=TTN:7273;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6715406	GT:AD:DP:GQ:PL	0/1:19,40:59:99:1207,0,455
chr2	178802363	rs3816849	C	T	695.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.79;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816849;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001267550.2|protein_coding|2/362|c.92-22G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_001256850.1|protein_coding|2/312|c.92-22G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_003319.4|protein_coding|2/190|c.92-22G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133378.4|protein_coding|2/311|c.92-22G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133432.3|protein_coding|2/191|c.92-22G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133437.4|protein_coding|2/191|c.92-22G>A||||||,T|intron_variant|MODIFIER|TTN|TTN|transcript|NM_133379.4|protein_coding|2/45|c.92-22G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3523;p3_1000G_AF=0.703474;p3_1000G_AFR_AF=0.7262;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=20347;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.5616;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179667090;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3177,1229;ESP6500_AA_AGE=410.9+/-335.5;ESP6500_AA_GTC=1145,887,171;ESP6500_CDS_SIZES=NM_133437.3:81357,NM_133432.3:81156,NM_133379.3:16815,NM_133378.4:100272,NM_003319.4:80781,NM_001267550.1:107976,NM_001256850.1:103053;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=41;ESP6500_EA_AC=4630,3970;ESP6500_EA_AGE=534.1+/-382.5;ESP6500_EA_GTC=1254,2122,924;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133437.3:intron,NM_133432.3:intron,NM_133379.3:intron,NM_133378.4:intron,NM_003319.4:intron,NM_001267550.1:intron,NM_001256850.1:intron;ESP6500_GL=TTN;ESP6500_GRCh38_POSITION=2:178802363;ESP6500_GTC=2399,3009,1095;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_133437.3:c.92-22G>A,NM_133432.3:c.92-22G>A,NM_133379.3:c.92-22G>A,NM_133378.4:c.92-22G>A,NM_003319.4:c.92-22G>A,NM_001267550.1:c.92-22G>A,NM_001256850.1:c.92-22G>A;ESP6500_MAF=46.1628,27.8938,39.9739;ESP6500_TAC=7807,5199	GT:AD:DP:GQ:PL	1/1:0,20:20:60:724,60,0
chr2	178834117	rs78585114	G	A	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.635;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=1.09;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78585114;dbSNPBuildID=132;ANN=A|3_prime_UTR_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|24/24|c.*56C>T|||||56|;p3_1000G_AA=A|||;p3_1000G_AC=407;p3_1000G_AF=0.08127;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=18901;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179698844;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:356,0,306
chr2	178837541	rs1032283	A	G	2685.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.43;SOR=0.744;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1032283;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|23/24|c.3678T>C|p.Pro1226Pro|3796/9127|3678/4593|1226/1530||;p3_1000G_AA=G|||;p3_1000G_AC=4948;p3_1000G_AF=0.988019;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19590;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179702268;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4257,149;ESP6500_AA_AGE=102.1+/-140.7;ESP6500_AA_GTC=2057,143,3;ESP6500_CDS_SIZES=NM_173648.3:4593;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=66;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173648.3:coding-synonymous;ESP6500_GL=CCDC141;ESP6500_GRCh38_POSITION=2:178837541;ESP6500_GTC=6356,144,3;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173648.3:c.3678T>C;ESP6500_HGVS_PROTEIN_VAR=NM_173648.3:p.(P1226);ESP6500_MAF=0.0116,3.3818,1.1533;ESP6500_TAC=12856,150	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2714,233,0
chr2	178845823	rs17453403	C	G	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.705;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.707;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17453403;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|21/23|c.3358-81G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=360;p3_1000G_AF=0.071885;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=19278;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179710550;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:99:168,0,379
chr2	178849948	rs4894055	C	T	130.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4894055;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|21/23|c.3357+101G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4422;p3_1000G_AF=0.882987;p3_1000G_AFR_AF=0.8396;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=19851;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.8499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179714675;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8538;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:158,12,0
chr2	178856305	rs12464157	C	T	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12464157;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|18/24|c.2817G>A|p.Ala939Ala|2935/9127|2817/4593|939/1530||;p3_1000G_AA=C|||;p3_1000G_AC=344;p3_1000G_AF=0.0686901;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=15612;p3_1000G_EAS_AF=0.0665;p3_1000G_EUR_AF=0.0805;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179721032;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=87,4317;ESP6500_AA_AGE=72.5+/-110.5;ESP6500_AA_GTC=2,83,2117;ESP6500_CDS_SIZES=NM_173648.3:4593;ESP6500_CG=2.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=103;ESP6500_EA_AC=761,7837;ESP6500_EA_AGE=181.9+/-230.5;ESP6500_EA_GTC=35,691,3573;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173648.3:coding-synonymous;ESP6500_GL=CCDC141;ESP6500_GRCh38_POSITION=2:178856305;ESP6500_GTC=37,774,5690;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173648.3:c.2817G>A;ESP6500_HGVS_PROTEIN_VAR=NM_173648.3:p.(A939);ESP6500_MAF=8.8509,1.9755,6.5221;ESP6500_TAC=848,12154	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,75
chr2	178868253	rs10165177	A	G	1139.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=3.841;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10165177;dbSNPBuildID=119;ANN=G|downstream_gene_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_001316745.1|protein_coding||c.*9651T>C|||||4768|,G|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|15/23|c.2395-48T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4060;p3_1000G_AF=0.810703;p3_1000G_AFR_AF=0.8245;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=18168;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.8181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179732980;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3737,669;ESP6500_AA_AGE=275.2+/-272.4;ESP6500_AA_GTC=1599,539,65;ESP6500_CDS_SIZES=NM_173648.3:4593;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=35;ESP6500_EA_AC=7420,1180;ESP6500_EA_AGE=235.0+/-267.7;ESP6500_EA_GTC=3208,1004,88;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173648.3:intron;ESP6500_GL=CCDC141;ESP6500_GRCh38_POSITION=2:178868253;ESP6500_GTC=4807,1543,153;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173648.3:c.2395-48T>C;ESP6500_MAF=13.7209,15.1838,14.2165;ESP6500_TAC=11157,1849	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1168,87,0
chr2	178868284	rs76209803	A	T	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.05;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.393;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76209803;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_001316745.1|protein_coding||c.*9620T>A|||||4737|,T|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|15/23|c.2395-79T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=357;p3_1000G_AF=0.0712859;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=18424;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0825;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179733011;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:270,0,261
chr2	178872417	rs12693170	C	A	128.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12693170;dbSNPBuildID=121;ANN=A|downstream_gene_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_001316745.1|protein_coding||c.*5487G>T|||||604|,A|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|12/23|c.1900-105G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3520;p3_1000G_AF=0.702875;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=18395;p3_1000G_EAS_AF=0.9772;p3_1000G_EUR_AF=0.6809;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179737144;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:156,12,0
chr2	178888518	rs7573293	C	T	2106.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=1.574;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7573293;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|9/23|c.1407+9G>A||||||,T|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_001316745.1|protein_coding|9/11|c.1407+9G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2586;p3_1000G_AF=0.516374;p3_1000G_AFR_AF=0.388;p3_1000G_AMR_AF=0.7478;p3_1000G_AN=5008;p3_1000G_DP=22909;p3_1000G_EAS_AF=0.2679;p3_1000G_EUR_AF=0.7197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179753245;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2135,198,0
chr2	178918969	rs12467323	C	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.515;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=0.015;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12467323;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|6/23|c.898-62G>T||||||,A|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_001316745.1|protein_coding|6/11|c.898-62G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=795;p3_1000G_AF=0.158746;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.1888;p3_1000G_AN=5008;p3_1000G_DP=19612;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.3827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179783696;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2188;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:99:189,0,100
chr2	178961514	rs6725028	A	G	98.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6725028;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|4/23|c.527-31T>C||||||,G|intron_variant|MODIFIER|CCDC141|CCDC141|transcript|NM_001316745.1|protein_coding|4/11|c.527-31T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1293;p3_1000G_AF=0.258187;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=18058;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179826241;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:126,9,0
chr2	179049913	rs61397643	G	A	891.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.799;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=1.17;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61397643;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|CCDC141|CCDC141|transcript|NM_173648.3|protein_coding|1/24|c.29C>T|p.Ala10Val|147/9127|29/4593|10/1530||,A|missense_variant|MODERATE|CCDC141|CCDC141|transcript|NM_001316745.1|protein_coding|1/12|c.29C>T|p.Ala10Val|147/6960|29/1959|10/652||;p3_1000G_AA=G|||;p3_1000G_AC=738;p3_1000G_AF=0.147364;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=19159;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179914640;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,43:79:99:920,0,871
chr2	179117398	rs3217565;rs371856804;rs869113129	AAGAT	A	196.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.007;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.702;SOR=0.055;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3217565,rs371856804;dbSNPBuildID=138,147,138;ANN=A|intron_variant|MODIFIER|SESTD1|SESTD1|transcript|NM_178123.4|protein_coding|14/17|c.1524+130_1524+133delATCT||||||;p3_1000G_AC=2390;p3_1000G_AF=0.477236;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=19754;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.3588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179982125;p3_1000G_GRCH37_REF=AAGAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,6:12:99:234,0,341
chr2	179123668	rs5836671	T	TA	145.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.82;SOR=4.174;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5836671;dbSNPBuildID=138;ANN=TA|intron_variant|MODIFIER|SESTD1|SESTD1|transcript|NM_178123.4|protein_coding|12/17|c.1282+46dupT||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:21:183,21,0
chr2	179124312	rs2289992	G	A	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.783;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=1.66;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289992;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SESTD1|SESTD1|transcript|NM_178123.4|protein_coding|11/17|c.1167+52C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2375;p3_1000G_AF=0.474241;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=18131;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.3559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179989039;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1321,429;ESP6500_AA_GTC=497,327,51;ESP6500_CDS_SIZES=NM_178123.4:2091;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=31;ESP6500_EA_AC=1355,2627;ESP6500_EA_GTC=234,887,870;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178123.4:intron;ESP6500_GL=SESTD1;ESP6500_GRCh38_POSITION=2:179124312;ESP6500_GTC=731,1214,921;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178123.4:c.1167+52C>T;ESP6500_MAF=34.0281,24.5143,46.6853;ESP6500_TAC=2676,3056	GT:AD:DP:GQ:PL	0/1:8,5:13:99:130,0,263
chr2	179132450	rs3214766;rs397819404	AT	A	245.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.274;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-1.151;SOR=0.375;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3214766;dbSNPBuildID=106,138;ANN=A|intron_variant|MODIFIER|SESTD1|SESTD1|transcript|NM_178123.4|protein_coding|9/17|c.850-25delA||||||;p3_1000G_AA=TTTTT|TTTTTT|TTTTT|insertion;p3_1000G_AC=2378;p3_1000G_AF=0.47484;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=17191;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.3549;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=179997177;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=INDEL;ESP6500_AA_AC=3187,1075;ESP6500_AA_GTC=1194,799,138;ESP6500_CDS_SIZES=NM_178123.4:2091;ESP6500_CG=4.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=68;ESP6500_EA_AC=2749,5503;ESP6500_EA_GTC=474,1801,1851;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178123.4:intron;ESP6500_GL=SESTD1;ESP6500_GRCh38_POSITION=2:179132450;ESP6500_GTC=1668,2600,1989;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_178123.4:c.850-25del1;ESP6500_MAF=33.3131,25.2229,47.4349;ESP6500_TAC=5936,6578	GT:AD:DP:GQ:PL	0/1:11,11:22:99:283,0,283
chr2	179174341	rs13013868	C	T	616.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13013868;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|SESTD1|SESTD1|transcript|NM_178123.4|protein_coding|4/17|c.255+2107G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4295;p3_1000G_AF=0.857628;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=17653;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.7873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180039068;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:645,57,0
chr2	179183019	rs1446673	G	C	613.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.24;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1446673;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|SESTD1|SESTD1|transcript|NM_178123.4|protein_coding|3/17|c.164+61C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3184;p3_1000G_AF=0.635783;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=16382;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180047746;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8241;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:642,51,0
chr2	179183181	rs6757681	T	C	714.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6757681;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|SESTD1|SESTD1|transcript|NM_178123.4|protein_coding|3/18|c.63A>G|p.Lys21Lys|213/10448|63/2091|21/696||;p3_1000G_AA=C|||;p3_1000G_AC=4305;p3_1000G_AF=0.859625;p3_1000G_AFR_AF=0.8411;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=16742;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.7873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180047908;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9294;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3691,715;ESP6500_AA_AGE=276.0+/-272.9;ESP6500_AA_GTC=1550,591,62;ESP6500_CDS_SIZES=NM_178123.4:2091;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=83;ESP6500_EA_AC=6601,1999;ESP6500_EA_AGE=319.9+/-314.4;ESP6500_EA_GTC=2550,1501,249;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178123.4:coding-synonymous;ESP6500_GL=SESTD1;ESP6500_GRCh38_POSITION=2:179183181;ESP6500_GTC=4100,2092,311;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178123.4:c.63A>G;ESP6500_HGVS_PROTEIN_VAR=NM_178123.4:p.(K21);ESP6500_MAF=23.2442,16.2279,20.8673;ESP6500_TAC=10292,2714	GT:AD:DP:GQ:PL	1/1:0,21:21:63:743,63,0
chr2	179443056	rs3749123	A	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.45;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=1.21;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749123;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_152520.4|protein_coding|10/10|c.*194T>C|||||194|,G|3_prime_UTR_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001113398.1|protein_coding|8/8|c.*194T>C|||||194|,G|3_prime_UTR_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001282725.1|protein_coding|10/10|c.*194T>C|||||194|,G|3_prime_UTR_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001113397.1|protein_coding|8/8|c.*194T>C|||||194|,G|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NR_104234.1|pseudogene|12/12|n.1706+168T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1091;p3_1000G_AF=0.217851;p3_1000G_AFR_AF=0.0204;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=17911;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.1233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180307783;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,6:21:99:192,0,493
chr2	179443152	rs397986825;rs5836680	TG	T	250.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.48;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=7.212;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=0.785;SOR=1.543;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5836680;dbSNPBuildID=134,138;ANN=T|3_prime_UTR_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_152520.4|protein_coding|10/10|c.*97delC|||||97|,T|3_prime_UTR_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001113398.1|protein_coding|8/8|c.*97delC|||||97|,T|3_prime_UTR_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001282725.1|protein_coding|10/10|c.*97delC|||||97|,T|3_prime_UTR_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001113397.1|protein_coding|8/8|c.*97delC|||||97|,T|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NR_104234.1|pseudogene|12/12|n.1706+71delC||||||;p3_1000G_AA=?|GGGGGG|GGGGG|unsure;p3_1000G_AC=3566;p3_1000G_AF=0.712061;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=18030;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.7903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180307879;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:29,13:42:99:288,0,788
chr2	179443608	rs10171283	C	G	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.66;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.81;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10171283;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_152520.4|protein_coding|9/9|c.1198-140G>C||||||,G|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001113398.1|protein_coding|7/7|c.892-140G>C||||||,G|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001282725.1|protein_coding|9/9|c.892-140G>C||||||,G|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NR_104234.1|pseudogene|11/12|n.1462-140G>C||||||,G|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001113397.1|protein_coding|7/7|c.970-140G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3661;p3_1000G_AF=0.73103;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=19736;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.7903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180308335;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,3:12:91:91,0,317
chr2	179446480	rs2271760	G	A	415.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=0.157;SOR=1.134;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271760;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_152520.4|protein_coding|7/9|c.916+45C>T||||||,A|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001113398.1|protein_coding|5/7|c.610+45C>T||||||,A|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001282725.1|protein_coding|7/9|c.610+45C>T||||||,A|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NR_104234.1|pseudogene|9/12|n.1191+45C>T||||||,A|intron_variant|MODIFIER|ZNF385B|ZNF385B|transcript|NM_001113397.1|protein_coding|5/7|c.688+45C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=954;p3_1000G_AF=0.190495;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=18782;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180311207;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=362,4044;ESP6500_AA_AGE=181.2+/-209.3;ESP6500_AA_GTC=13,336,1854;ESP6500_CDS_SIZES=NM_152520.4:1416,NM_001113398.1:1110,NM_001113397.1:1188;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=802,7798;ESP6500_EA_AGE=187.6+/-234.8;ESP6500_EA_GTC=47,708,3545;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152520.4:intron,NM_001113398.1:intron,NM_001113397.1:intron;ESP6500_GL=ZNF385B;ESP6500_GRCh38_POSITION=2:179446480;ESP6500_GTC=60,1044,5399;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152520.4:c.916+45C>T,NM_001113398.1:c.610+45C>T,NM_001113397.1:c.688+45C>T;ESP6500_MAF=9.3256,8.2161,8.9497;ESP6500_TAC=1164,11842	GT:AD:DP:GQ:PL	0/1:7,16:23:99:444,0,120
chr2	179945475	rs1046356	C	T	834.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.293;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=1.04;SOR=0.674;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1046356;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|CWC22|CWC22|transcript|NM_020943.2|protein_coding|20/20|c.2381G>A|p.Arg794Gln|2681/3279|2381/2727|794/908||;p3_1000G_AA=C|||;p3_1000G_AC=477;p3_1000G_AF=0.0952476;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.0965;p3_1000G_AN=5008;p3_1000G_DP=19686;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.0596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180810202;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=231,3497;ESP6500_AA_GTC=13,205,1646;ESP6500_CDS_SIZES=NM_020943.2:2727;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=220;ESP6500_EA_AC=485,7731;ESP6500_EA_GTC=11,463,3634;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020943.2:missense;ESP6500_GL=CWC22;ESP6500_GRCh38_POSITION=2:179945475;ESP6500_GS=43;ESP6500_GTC=24,668,5280;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020943.2:c.2381G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020943.2:p.(R794Q);ESP6500_MAF=5.9031,6.1964,5.9946;ESP6500_PH=benign:0.414;ESP6500_TAC=716,11228	GT:AD:DP:GQ:PL	0/1:59,36:95:99:863,0,1521
chr2	179945537	rs6433818	A	T	2775.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=0.887;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433818;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|CWC22|CWC22|transcript|NM_020943.2|protein_coding|20/20|c.2319T>A|p.Ser773Arg|2619/3279|2319/2727|773/908||;p3_1000G_AA=T|||;p3_1000G_AC=4664;p3_1000G_AF=0.93131;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=18401;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.8976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180810264;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3484,218;ESP6500_AA_GTC=1637,210,4;ESP6500_CDS_SIZES=NM_020943.2:2727;ESP6500_CG=-0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=198;ESP6500_EA_AC=7200,1016;ESP6500_EA_GTC=3145,910,53;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020943.2:missense;ESP6500_GL=CWC22;ESP6500_GRCh38_POSITION=2:179945537;ESP6500_GS=110;ESP6500_GTC=4782,1120,57;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020943.2:c.2319T>A;ESP6500_HGVS_PROTEIN_VAR=NM_020943.2:p.(S773R);ESP6500_MAF=12.3661,5.8887,10.3541;ESP6500_PH=benign:0.0;ESP6500_TAC=10684,1234	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2804,258,0
chr2	179945631	rs71425650	C	T	613.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.908;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71425650;dbSNPBuildID=130;ANN=T|missense_variant|MODERATE|CWC22|CWC22|transcript|NM_020943.2|protein_coding|20/20|c.2225G>A|p.Arg742Lys|2525/3279|2225/2727|742/908||;p3_1000G_AA=C|||;p3_1000G_AC=923;p3_1000G_AF=0.184305;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=18007;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.1153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180810358;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=507,3201;ESP6500_AA_GTC=39,429,1386;ESP6500_CDS_SIZES=NM_020943.2:2727;ESP6500_CG=2.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=107;ESP6500_EA_AC=895,7289;ESP6500_EA_GTC=62,771,3259;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020943.2:missense;ESP6500_GL=CWC22;ESP6500_GRCh38_POSITION=2:179945631;ESP6500_GS=26;ESP6500_GTC=101,1200,4645;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020943.2:c.2225G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020943.2:p.(R742K);ESP6500_MAF=10.936,13.6731,11.7894;ESP6500_PH=benign:0.062;ESP6500_TAC=1402,10490	GT:AD:DP:GQ:PL	0/1:38,24:62:99:642,0,882
chr2	179970862	rs4894140	A	G	1179.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.04;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4894140;dbSNPBuildID=111;ANN=G|splice_region_variant&intron_variant|LOW|CWC22|CWC22|transcript|NM_020943.2|protein_coding|9/19|c.941-6T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4987;p3_1000G_AF=0.995807;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16767;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180835589;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3566,50;ESP6500_AA_GTC=1758,50,0;ESP6500_CDS_SIZES=NM_020943.2:2727;ESP6500_CG=-0.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=87;ESP6500_EA_AC=8141,1;ESP6500_EA_GTC=4070,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020943.2:intron;ESP6500_GL=CWC22;ESP6500_GRCh38_POSITION=2:179970862;ESP6500_GTC=5828,51,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020943.2:c.941-6T>C;ESP6500_MAF=0.0123,1.3827,0.4337;ESP6500_TAC=11707,51	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1208,114,0
chr2	179971065	rs3768837	T	A	273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.752;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.982;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.753;SOR=0.209;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768837;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|CWC22|CWC22|transcript|NM_020943.2|protein_coding|9/20|c.816A>T|p.Val272Val|1116/3279|816/2727|272/908||,A|sequence_feature|LOW|CWC22|CWC22|helix:combinatorial_evidence_used_in_manual_assertion|NM_020943.2|protein_coding|9/20|c.816A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4117;p3_1000G_AF=0.822085;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=15458;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180835792;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8374;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3087,597;ESP6500_AA_GTC=1297,493,52;ESP6500_CDS_SIZES=NM_020943.2:2727;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=6697,1497;ESP6500_EA_GTC=2728,1241,128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020943.2:coding-synonymous;ESP6500_GL=CWC22;ESP6500_GRCh38_POSITION=2:179971065;ESP6500_GTC=4025,1734,180;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_020943.2:c.816A>T;ESP6500_HGVS_PROTEIN_VAR=NM_020943.2:p.(V272);ESP6500_MAF=18.2695,16.2052,17.6292;ESP6500_TAC=9784,2094	GT:AD:DP:GQ:PL	0/1:9,14:23:99:302,0,213
chr2	179971095	rs3768838	A	T	165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.609;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3768838;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CWC22|CWC22|transcript|NM_020943.2|protein_coding|8/19|c.805-19T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=915;p3_1000G_AF=0.182708;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=14463;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180835822;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=492,3094;ESP6500_AA_GTC=38,416,1339;ESP6500_CDS_SIZES=NM_020943.2:2727;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=38;ESP6500_EA_AC=867,7221;ESP6500_EA_GTC=66,735,3243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020943.2:intron;ESP6500_GL=CWC22;ESP6500_GRCh38_POSITION=2:179971095;ESP6500_GTC=104,1151,4582;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020943.2:c.805-19T>A;ESP6500_MAF=10.7196,13.72,11.6413;ESP6500_TAC=1359,10315	GT:AD:DP:GQ:PL	0/1:7,6:13:99:194,0,191
chr2	179973079	rs6433821	T	A	366.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6433821;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CWC22|CWC22|transcript|NM_020943.2|protein_coding|8/19|c.804+114A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4626;p3_1000G_AF=0.923722;p3_1000G_AFR_AF=0.9259;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=15163;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.8986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180837806;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:395,33,0
chr2	179978399	rs2367990	C	T	170.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2367990;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CWC22|CWC22|transcript|NM_020943.2|protein_coding|5/19|c.453-81G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4607;p3_1000G_AF=0.919928;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=15102;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180843126;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:199,15,0
chr2	179982016	rs3738943	G	T	74.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=0;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738943;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CWC22|CWC22|transcript|NM_020943.2|protein_coding|4/19|c.207-19C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4168;p3_1000G_AF=0.832268;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=18468;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=180846743;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8374;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=2686,354;ESP6500_AA_GTC=1186,314,20;ESP6500_CDS_SIZES=NM_020943.2:2727;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=16;ESP6500_EA_AC=5787,1131;ESP6500_EA_GTC=2415,957,87;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020943.2:intron;ESP6500_GL=CWC22;ESP6500_GRCh38_POSITION=2:179982016;ESP6500_GTC=3601,1271,107;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_020943.2:c.207-19C>A;ESP6500_MAF=16.3487,11.6447,14.9126;ESP6500_TAC=8473,1485	GT:AD:DP:GQ:PL	0/1:6,5:11:99:103,0,225
chr2	181480119	rs11412304;rs397733604;rs397786860	G	GT	81.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.712;SOR=1.022;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11412304;dbSNPBuildID=137,138,138;ANN=GT|splice_region_variant&intron_variant|LOW|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|5/27|c.625-8dupT||||||INFO_REALIGN_3_PRIME,GT|downstream_gene_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_001316312.1|protein_coding||c.*4268_*4269insT|||||3902|	GT:AD:DP:GQ:PL	0/1:2,5:7:35:119,0,35
chr2	181486016	rs155103	A	G	2517.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=0.876;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs155103;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|10/27|c.1153+24A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3476;p3_1000G_AF=0.694089;p3_1000G_AFR_AF=0.6876;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=20506;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.7962;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182350743;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2625,1017;ESP6500_AA_GTC=945,735,141;ESP6500_CDS_SIZES=NM_000885.4:3099;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=87;ESP6500_EA_AC=6368,1768;ESP6500_EA_GTC=2494,1380,194;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000885.4:intron;ESP6500_GL=ITGA4;ESP6500_GRCh38_POSITION=2:181486016;ESP6500_GTC=3439,2115,335;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000885.4:c.1153+24A>G;ESP6500_MAF=21.7306,27.9242,23.6458;ESP6500_TAC=8993,2785	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2546,243,0
chr2	181494886	rs165419	G	A	904.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=2.753;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs165419;dbSNPBuildID=79;ANN=A|sequence_feature|LOW|ITGA4|ITGA4|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_000885.5|protein_coding|12/27|c.1339+74G>A||||||,A|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|12/27|c.1339+74G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4868;p3_1000G_AF=0.972045;p3_1000G_AFR_AF=0.9002;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=17240;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182359613;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:933,81,0
chr2	181509601	rs3816521	T	A	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.853;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=0.349;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816521;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|15/27|c.1696-57T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=905;p3_1000G_AF=0.180711;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=16972;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.325;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182374328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:112,0,160
chr2	181509807	rs1143674	A	G	184.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1143674;dbSNPBuildID=102;ANN=G|splice_region_variant&synonymous_variant|LOW|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|16/28|c.1845A>G|p.Thr615Thr|2608/7263|1845/3099|615/1032||;p3_1000G_AA=A|||;p3_1000G_AC=3313;p3_1000G_AF=0.661542;p3_1000G_AFR_AF=0.6634;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=15424;p3_1000G_EAS_AF=0.631;p3_1000G_EUR_AF=0.5328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182374534;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2342,1250;ESP6500_AA_GTC=750,842,204;ESP6500_CDS_SIZES=NM_000885.4:3099;ESP6500_CG=1.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=47;ESP6500_EA_AC=4693,3431;ESP6500_EA_GTC=1383,1927,752;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000885.4:coding-synonymous-near-splice;ESP6500_GL=ITGA4;ESP6500_GRCh38_POSITION=2:181509807;ESP6500_GTC=2133,2769,956;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000885.4:c.1845A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000885.4:p.(T615);ESP6500_MAF=42.2329,34.7996,39.9539;ESP6500_TAC=7035,4681	GT:AD:DP:GQ:PL	1/1:0,6:6:18:213,18,0
chr2	181511819	rs1466109	T	G	772.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1466109;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|17/27|c.1922+44T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4876;p3_1000G_AF=0.973642;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16096;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182376546;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3408,276;ESP6500_AA_GTC=1575,258,9;ESP6500_CDS_SIZES=NM_000885.4:3099;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=90;ESP6500_EA_AC=8160,6;ESP6500_EA_GTC=4077,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000885.4:intron;ESP6500_GL=ITGA4;ESP6500_GRCh38_POSITION=2:181511819;ESP6500_GTC=5652,264,9;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000885.4:c.1922+44T>G;ESP6500_MAF=0.0735,7.4919,2.3797;ESP6500_TAC=11568,282	GT:AD:DP:GQ:PL	1/1:0,25:25:75:801,75,0
chr2	181522406	rs7602504	A	G	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-2.189;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7602504;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|18/27|c.2073+65A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3312;p3_1000G_AF=0.661342;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=18648;p3_1000G_EAS_AF=0.625;p3_1000G_EUR_AF=0.5328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182387133;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:102,0,104
chr2	181527416	rs56095368	G	C	411.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.962;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.479;SOR=1.158;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56095368;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|22/27|c.2430+29G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=813;p3_1000G_AF=0.16234;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=20499;p3_1000G_EAS_AF=0.1587;p3_1000G_EUR_AF=0.329;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182392143;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=418,3466;ESP6500_AA_GTC=27,364,1551;ESP6500_CDS_SIZES=NM_000885.4:3099;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=51;ESP6500_EA_AC=2634,5680;ESP6500_EA_GTC=427,1780,1950;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000885.4:intron;ESP6500_GL=ITGA4;ESP6500_GRCh38_POSITION=2:181527416;ESP6500_GTC=454,2144,3501;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_000885.4:c.2430+29G>C;ESP6500_MAF=31.6815,10.7621,25.0205;ESP6500_TAC=3052,9146	GT:AD:DP:GQ:PL	0/1:14,15:29:99:440,0,394
chr2	181529418	rs3770104	C	T	150.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.637;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=1.18;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770104;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|22/27|c.2431-123C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3959;p3_1000G_AF=0.790535;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=18065;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182394145;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:62:179,0,62
chr2	181530618	rs1143676	G	A	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.442;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.946;SOR=0.608;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1143676;dbSNPBuildID=102;ANN=A|missense_variant|MODERATE|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|24/28|c.2633G>A|p.Arg878Gln|3396/7263|2633/3099|878/1032||;p3_1000G_AA=A|||;p3_1000G_AC=3959;p3_1000G_AF=0.790535;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=20207;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.669;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182395345;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9039;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2847,937;ESP6500_AA_GTC=1080,687,125;ESP6500_CDS_SIZES=NM_000885.4:3099;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=188;ESP6500_EA_AC=5596,2654;ESP6500_EA_GTC=1908,1780,437;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000885.4:missense;ESP6500_GL=ITGA4;ESP6500_GRCh38_POSITION=2:181530618;ESP6500_GS=43;ESP6500_GTC=2988,2467,562;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000885.4:c.2633G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000885.4:p.(R878Q);ESP6500_MAF=32.1697,24.7622,29.8405;ESP6500_PH=benign:0.063;ESP6500_TAC=8443,3591	GT:AD:DP:GQ:PL	0/1:29,17:46:99:342,0,694
chr2	181534370	rs7562325	T	C	434.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-1.218;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7562325;dbSNPBuildID=116;ANN=C|splice_region_variant&synonymous_variant|LOW|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|26/28|c.2883T>C|p.His961His|3646/7263|2883/3099|961/1032||,C|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding||c.*3814A>G|||||2304|,C|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding||c.*3814A>G|||||2304|,C|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding||c.*3814A>G|||||2304|,C|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding||c.*3814A>G|||||2304|,C|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding||c.*3814A>G|||||2304|,C|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene||n.*2304A>G|||||2304|,C|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene||n.*2304A>G|||||2304|;p3_1000G_AA=T|||;p3_1000G_AC=3290;p3_1000G_AF=0.656949;p3_1000G_AFR_AF=0.6452;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=19942;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.5457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182399097;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2384,1312;ESP6500_AA_GTC=759,866,223;ESP6500_CDS_SIZES=NM_000885.4:3099;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=63;ESP6500_EA_AC=4793,3397;ESP6500_EA_GTC=1426,1941,728;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000885.4:coding-synonymous-near-splice;ESP6500_GL=ITGA4;ESP6500_GRCh38_POSITION=2:181534370;ESP6500_GTC=2185,2807,951;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000885.4:c.2883T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000885.4:p.(H961);ESP6500_MAF=41.4774,35.4978,39.618;ESP6500_TAC=7177,4709	GT:AD:DP:GQ:PL	0/1:6,17:23:72:463,0,72
chr2	181534770	rs11418738;rs397799834;rs5836796;rs115293794	A	ATT	408.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.529;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.49;SOR=1.27;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11418738,rs5836796;dbSNPBuildID=132,137,138;ANN=ATT|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding||c.*3412_*3413dupAA|||||1903|,ATT|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding||c.*3412_*3413dupAA|||||1903|,ATT|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding||c.*3412_*3413dupAA|||||1903|,ATT|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding||c.*3412_*3413dupAA|||||1903|,ATT|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding||c.*3412_*3413dupAA|||||1903|,ATT|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene||n.*1902_*1903dupAA|||||1903|,ATT|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene||n.*1902_*1903dupAA|||||1903|,ATT|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|26/27|c.2884-36_2884-35dupTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2678;p3_1000G_AF=0.534744;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=18366;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.5139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182399497;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:14,15:29:99:446,0,464
chr2	181534911	rs2124443	A	G	2393.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=0.824;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2124443;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|27/28|c.2979A>G|p.Leu993Leu|3742/7263|2979/3099|993/1032||,G|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding||c.*3273T>C|||||1763|,G|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding||c.*3273T>C|||||1763|,G|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding||c.*3273T>C|||||1763|,G|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding||c.*3273T>C|||||1763|,G|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding||c.*3273T>C|||||1763|,G|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene||n.*1763T>C|||||1763|,G|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene||n.*1763T>C|||||1763|;p3_1000G_AA=G|||;p3_1000G_AC=4995;p3_1000G_AF=0.997404;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17278;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182399638;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3683,15;ESP6500_AA_GTC=1834,15,0;ESP6500_CDS_SIZES=NM_000885.4:3099;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=134;ESP6500_EA_AC=8174,0;ESP6500_EA_GTC=4087,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000885.4:coding-synonymous;ESP6500_GL=ITGA4;ESP6500_GRCh38_POSITION=2:181534911;ESP6500_GTC=5921,15,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000885.4:c.2979A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000885.4:p.(L993);ESP6500_MAF=0.0,0.4056,0.1263;ESP6500_TAC=11857,15	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2422,237,0
chr2	181534958	rs41265949	C	T	425.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.315;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.306;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41265949;dbSNPBuildID=127;ANN=T|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding||c.*3226G>A|||||1716|,T|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding||c.*3226G>A|||||1716|,T|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding||c.*3226G>A|||||1716|,T|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding||c.*3226G>A|||||1716|,T|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding||c.*3226G>A|||||1716|,T|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene||n.*1716G>A|||||1716|,T|downstream_gene_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene||n.*1716G>A|||||1716|,T|intron_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|27/27|c.3003+23C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=824;p3_1000G_AF=0.164537;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=17936;p3_1000G_EAS_AF=0.1577;p3_1000G_EUR_AF=0.3211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182399685;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=445,3205;ESP6500_AA_GTC=30,385,1410;ESP6500_CDS_SIZES=NM_000885.4:3099;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=102;ESP6500_EA_AC=2525,5639;ESP6500_EA_GTC=399,1727,1956;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000885.4:intron;ESP6500_GL=ITGA4;ESP6500_GRCh38_POSITION=2:181534958;ESP6500_GTC=429,2112,3366;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000885.4:c.3003+23C>T;ESP6500_MAF=30.9285,12.1918,25.1397;ESP6500_TAC=2970,8844	GT:AD:DP:GQ:PL	0/1:33,20:53:99:454,0,1006
chr2	181538063	rs6747500;333001	G	A	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.166;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.25;ReadPosRankSum=-0.414;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6747500;dbSNPBuildID=116;ANN=A|3_prime_UTR_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding|28/28|c.*2536G>A|||||2536|,A|3_prime_UTR_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding|14/14|c.*121C>T|||||121|,A|3_prime_UTR_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding|10/10|c.*121C>T|||||121|,A|3_prime_UTR_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding|11/11|c.*121C>T|||||121|,A|3_prime_UTR_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding|13/13|c.*121C>T|||||121|,A|3_prime_UTR_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding|13/13|c.*121C>T|||||121|,A|non_coding_transcript_exon_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene|11/11|n.1625C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene|12/12|n.1757C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3844;p3_1000G_AF=0.767572;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=19125;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182402790;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9018;p3_1000G_VT=SNP;CLINVAR_ALLELEID=284119;CLINVAR_CLNDISDB=MedGen:CN239466;CLINVAR_CLNDN=Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.181538063G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27089;CLINVAR_GENEINFO=ITGA4:3676|CERKL:375298;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6747500	GT:AD:DP:GQ:PL	0/1:3,8:11:76:229,0,76
chr2	181539065	rs57234957	A	AT	1976.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=2.256;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs57234957;dbSNPBuildID=129;ANN=AT|downstream_gene_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding||c.*3538_*3539insT|||||138|,AT|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding|13/13|c.1616+26_1616+27insA||||||,AT|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding|9/9|c.1199+26_1199+27insA||||||,AT|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding|10/10|c.1331+26_1331+27insA||||||,AT|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding|12/12|c.1484+26_1484+27insA||||||,AT|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding|12/12|c.1538+26_1538+27insA||||||,AT|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene|10/10|n.1443+26_1443+27insA||||||,AT|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene|11/11|n.1575+26_1575+27insA||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=4964;p3_1000G_AF=0.991214;p3_1000G_AFR_AF=0.9682;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18535;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182403792;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,49:49:99:2014,150,0
chr2	181539124	rs10180793;166844	G	A	1971.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.88;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10180793;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|CERKL|CERKL|transcript|NM_001030311.2|protein_coding|13/14|c.1584C>T|p.Asp528Asp|1685/3288|1584/1677|528/558||,A|synonymous_variant|LOW|CERKL|CERKL|transcript|NM_001030312.2|protein_coding|9/10|c.1167C>T|p.Asp389Asp|1268/2871|1167/1260|389/419||,A|synonymous_variant|LOW|CERKL|CERKL|transcript|NM_001030313.2|protein_coding|10/11|c.1299C>T|p.Asp433Asp|1400/3003|1299/1392|433/463||,A|synonymous_variant|LOW|CERKL|CERKL|transcript|NM_001160277.1|protein_coding|12/13|c.1452C>T|p.Asp484Asp|1553/3156|1452/1545|484/514||,A|synonymous_variant|LOW|CERKL|CERKL|transcript|NM_201548.4|protein_coding|12/13|c.1506C>T|p.Asp502Asp|1607/3210|1506/1599|502/532||,A|downstream_gene_variant|MODIFIER|ITGA4|ITGA4|transcript|NM_000885.5|protein_coding||c.*3597G>A|||||196|,A|non_coding_transcript_exon_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene|10/11|n.1411C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene|11/12|n.1543C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4964;p3_1000G_AF=0.991214;p3_1000G_AFR_AF=0.9682;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18450;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182403851;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4320,86;ESP6500_AA_AGE=73.6+/-111.7;ESP6500_AA_GTC=2118,84,1;ESP6500_CDS_SIZES=NM_201548.4:1599,NM_001160277.1:1545,NM_001030313.2:1392,NM_001030312.2:1260,NM_001030311.2:1677;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=140;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201548.4:coding-synonymous,NM_001160277.1:coding-synonymous,NM_001030313.2:coding-synonymous,NM_001030312.2:coding-synonymous,NM_001030311.2:coding-synonymous;ESP6500_GL=CERKL;ESP6500_GRCh38_POSITION=2:181539124;ESP6500_GTC=6416,86,1;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_201548.4:c.1506C>T,NM_001160277.1:c.1452C>T,NM_001030313.2:c.1299C>T,NM_001030312.2:c.1167C>T,NM_001030311.2:c.1584C>T;ESP6500_HGVS_PROTEIN_VAR=NM_201548.4:p.(D502),NM_001160277.1:p.(D484),NM_001030313.2:p.(D433),NM_001030312.2:p.(D389),NM_001030311.2:p.(D528);ESP6500_MAF=0.0233,1.9519,0.6766;ESP6500_TAC=12918,88;CLINVAR_ALLELEID=177576;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.181539124G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27109;CLINVAR_GENEINFO=CERKL:375298;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10180793	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2000,198,0
chr2	181547906	rs139036113	G	GACACACACACACAC	198.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.983;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.87;ReadPosRankSum=-1.542;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs139036113;dbSNPBuildID=134;ANN=GACACACACACACAC|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding|9/13|c.1212-60_1212-59insGTGTGTGTGTGTGT||||||,GACACACACACACAC|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding|5/9|c.795-60_795-59insGTGTGTGTGTGTGT||||||,GACACACACACACAC|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding|6/10|c.927-60_927-59insGTGTGTGTGTGTGT||||||,GACACACACACACAC|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding|8/12|c.1080-60_1080-59insGTGTGTGTGTGTGT||||||,GACACACACACACAC|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding|8/12|c.1134-60_1134-59insGTGTGTGTGTGTGT||||||,GACACACACACACAC|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene|6/10|n.1039-60_1039-59insGTGTGTGTGTGTGT||||||,GACACACACACACAC|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene|7/11|n.1171-60_1171-59insGTGTGTGTGTGTGT||||||	GT:AD:DP:GQ:PL	0/1:5,5:10:99:236,0,735
chr2	181548532	rs12997453;257149	A	G	808.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.628;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=0.016;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12997453;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding|9/13|c.1211+13T>C||||||,G|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding|5/9|c.794+13T>C||||||,G|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding|6/10|c.926+13T>C||||||,G|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding|8/12|c.1079+13T>C||||||,G|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding|8/12|c.1133+13T>C||||||,G|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene|6/10|n.1038+13T>C||||||,G|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene|7/11|n.1170+13T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3247;p3_1000G_AF=0.648363;p3_1000G_AFR_AF=0.6127;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=20890;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.5447;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182413259;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2708,1698;ESP6500_AA_AGE=633.1+/-396.0;ESP6500_AA_GTC=823,1062,318;ESP6500_CDS_SIZES=NM_201548.4:1599,NM_001160277.1:1545,NM_001030313.2:1392,NM_001030312.2:1260,NM_001030311.2:1677;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=96;ESP6500_EA_AC=5005,3593;ESP6500_EA_AGE=613.3+/-396.1;ESP6500_EA_GTC=1484,2037,778;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201548.4:intron,NM_001160277.1:intron,NM_001030313.2:intron,NM_001030312.2:intron,NM_001030311.2:intron;ESP6500_GL=CERKL;ESP6500_GRCh38_POSITION=2:181548532;ESP6500_GTC=2307,3099,1096;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_201548.4:c.1133+13T>C,NM_001160277.1:c.1079+13T>C,NM_001030313.2:c.926+13T>C,NM_001030312.2:c.794+13T>C,NM_001030311.2:c.1211+13T>C;ESP6500_MAF=41.7888,38.5384,40.6875;ESP6500_TAC=7713,5291;CLINVAR_ALLELEID=250436;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.181548532A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27127;CLINVAR_GENEINFO=CERKL:375298;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12997453	GT:AD:DP:GQ:PL	0/1:17,31:48:99:837,0,426
chr2	181548875	rs13003064;166846	A	T	677.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.46;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=2.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=2.46;SOR=0.389;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13003064;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding|7/13|c.974-18T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding|3/9|c.557-18T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding|4/10|c.689-18T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding|6/12|c.842-18T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding|6/12|c.896-18T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene|4/10|n.801-18T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene|5/11|n.933-18T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3245;p3_1000G_AF=0.647963;p3_1000G_AFR_AF=0.6127;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=19972;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.5447;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182413602;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2706,1700;ESP6500_AA_GTC=825,1056,322;ESP6500_CDS_SIZES=NM_201548.4:1599,NM_001160277.1:1545,NM_001030313.2:1392,NM_001030312.2:1260,NM_001030311.2:1677;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=36;ESP6500_EA_AC=5008,3592;ESP6500_EA_GTC=1485,2038,777;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201548.4:intron,NM_001160277.1:intron,NM_001030313.2:intron,NM_001030312.2:intron,NM_001030311.2:intron;ESP6500_GL=CERKL;ESP6500_GRCh38_POSITION=2:181548875;ESP6500_GTC=2310,3094,1099;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_201548.4:c.896-18T>A,NM_001160277.1:c.842-18T>A,NM_001030313.2:c.689-18T>A,NM_001030312.2:c.557-18T>A,NM_001030311.2:c.974-18T>A;ESP6500_MAF=41.7674,38.5837,40.6889;ESP6500_TAC=7714,5292;CLINVAR_ALLELEID=177577;CLINVAR_CLNDISDB=MedGen:C1842127,OMIM:608380|MedGen:CN169374;CLINVAR_CLNDN=Retinitis_pigmentosa_26|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.181548875A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CERKL:375298;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13003064	GT:AD:DP:GQ:PL	0/1:37,27:64:99:706,0,955
chr2	181565393	rs7604902	C	A	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.105;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.608;SOR=0.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7604902;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding|5/13|c.755+40G>T||||||,A|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding|2/9|c.482-15685G>T||||||,A|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding|3/10|c.613+8360G>T||||||,A|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding|4/12|c.623+40G>T||||||,A|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding|4/12|c.677+665G>T||||||,A|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene|2/10|n.583-6685G>T||||||,A|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene|3/11|n.715-6685G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1244;p3_1000G_AF=0.248403;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=18180;p3_1000G_EAS_AF=0.1389;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182430120;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1221,2423;ESP6500_AA_GTC=207,807,808;ESP6500_CDS_SIZES=NM_201548.4:1599,NM_001160277.1:1545,NM_001030313.2:1392,NM_001030312.2:1260,NM_001030311.2:1677;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=73;ESP6500_EA_AC=1640,6528;ESP6500_EA_GTC=170,1300,2614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201548.4:intron,NM_001160277.1:intron,NM_001030313.2:intron,NM_001030312.2:intron,NM_001030311.2:intron;ESP6500_GL=CERKL;ESP6500_GRCh38_POSITION=2:181565393;ESP6500_GTC=377,2107,3422;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_201548.4:c.677+665G>T,NM_001160277.1:c.623+40G>T,NM_001030313.2:c.613+8360G>T,NM_001030312.2:c.482-15685G>T,NM_001030311.2:c.755+40G>T;ESP6500_MAF=20.0784,33.5071,24.2211;ESP6500_TAC=2861,8951	GT:AD:DP:GQ:PL	0/1:30,21:51:99:535,0,796
chr2	181604091	rs6433923;166848	A	T	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.03;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=-0.079;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6433923;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030311.2|protein_coding|1/13|c.239-12T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030312.2|protein_coding|1/9|c.239-12T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001030313.2|protein_coding|1/10|c.239-12T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_001160277.1|protein_coding|1/12|c.239-12T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NM_201548.4|protein_coding|1/12|c.239-12T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027689.1|pseudogene|1/10|n.340-12T>A||||||,T|intron_variant|MODIFIER|CERKL|CERKL|transcript|NR_027690.1|pseudogene|1/11|n.340-12T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1358;p3_1000G_AF=0.271166;p3_1000G_AFR_AF=0.6619;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=17757;p3_1000G_EAS_AF=0.1062;p3_1000G_EUR_AF=0.0855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182468818;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2249,2101;ESP6500_AA_GTC=585,1079,511;ESP6500_CDS_SIZES=NM_201548.4:1599,NM_001160277.1:1545,NM_001030313.2:1392,NM_001030312.2:1260,NM_001030311.2:1677;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=21;ESP6500_EA_AC=679,7891;ESP6500_EA_GTC=33,613,3639;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201548.4:intron,NM_001160277.1:intron,NM_001030313.2:intron,NM_001030312.2:intron,NM_001030311.2:intron;ESP6500_GL=CERKL;ESP6500_GRCh38_POSITION=2:181604091;ESP6500_GTC=618,1692,4150;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_201548.4:c.239-12T>A,NM_001160277.1:c.239-12T>A,NM_001030313.2:c.239-12T>A,NM_001030312.2:c.239-12T>A,NM_001030311.2:c.239-12T>A;ESP6500_MAF=7.923,48.2989,22.6625;ESP6500_TAC=2928,9992;CLINVAR_AF_ESP=0.2266;CLINVAR_AF_EXAC=0.16020;CLINVAR_AF_TGP=0.2712;CLINVAR_ALLELEID=177578;CLINVAR_CLNDISDB=MedGen:C1842127,OMIM:608380|MedGen:CN169374|MedGen:CN239466;CLINVAR_CLNDN=Retinitis_pigmentosa_26|not_specified|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.181604091A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:251609;CLINVAR_GENEINFO=CERKL:375298;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6433923	GT:AD:DP:GQ:PL	0/1:10,4:14:99:123,0,309
chr2	181678728	rs1801262	T	C	1051.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.54;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=1.07;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=0.739;SOR=0.866;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1801262;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|NEUROD1|NEUROD1|transcript|NM_002500.4|protein_coding|2/2|c.133A>G|p.Thr45Ala|380/3002|133/1071|45/356||;p3_1000G_AA=C|||;p3_1000G_AC=3860;p3_1000G_AF=0.770767;p3_1000G_AFR_AF=0.7307;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=19530;p3_1000G_EAS_AF=0.9196;p3_1000G_EUR_AF=0.6123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182543455;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8528;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3275,1131;ESP6500_AA_AGE=403.3+/-332.7;ESP6500_AA_GTC=1214,847,142;ESP6500_CDS_SIZES=NM_002500.4:1071;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=107;ESP6500_EA_AC=5431,3169;ESP6500_EA_AGE=477.6+/-369.7;ESP6500_EA_GTC=1715,2001,584;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002500.4:missense;ESP6500_GL=NEUROD1;ESP6500_GRCh38_POSITION=2:181678728;ESP6500_GS=58;ESP6500_GTC=2929,2848,726;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002500.4:c.133A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002500.4:p.(T45A);ESP6500_MAF=36.8488,25.6695,33.0617;ESP6500_PH=benign:0.0;ESP6500_TAC=8706,4300	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,27:52:99:0|1:181678728_T_C:1080,0,1406
chr2	181678732	rs116321775	G	A	1051.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.222;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.84;ReadPosRankSum=-0.164;SOR=0.945;SNP;HET;VARTYPE=SNP;dbSNPBuildID=132;ANN=A|synonymous_variant|LOW|NEUROD1|NEUROD1|transcript|NM_002500.4|protein_coding|2/2|c.129C>T|p.Leu43Leu|376/3002|129/1071|43/356||	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,28:53:99:0|1:181678728_T_C:1080,0,1406
chr2	181898802	rs2059702	A	T	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.764;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.37;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2059702;dbSNPBuildID=94;ANN=T|downstream_gene_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287505.1|protein_coding||c.*6138A>T|||||4105|,T|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001130445.2|protein_coding|4/17|c.365-78A>T||||||,T|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287503.1|protein_coding|4/16|c.365-78A>T||||||,T|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287504.1|protein_coding|3/15|c.-95-78A>T||||||,T|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_006751.6|protein_coding|4/16|c.365-78A>T||||||,T|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NR_109843.1|pseudogene|4/17|n.716-78A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=808;p3_1000G_AF=0.161342;p3_1000G_AFR_AF=0.4032;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=1543;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182763529;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=501,883;ESP6500_AA_GTC=101,299,292;ESP6500_CDS_SIZES=NM_006751.5:3771,NM_001130445.1:3780;ESP6500_CG=4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=112;ESP6500_EA_AC=95,3083;ESP6500_EA_GTC=3,89,1497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006751.5:intron,NM_001130445.1:intron;ESP6500_GL=SSFA2;ESP6500_GRCh38_POSITION=2:181898802;ESP6500_GTC=104,388,1789;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_006751.5:c.365-78A>T,NM_001130445.1:c.365-78A>T;ESP6500_MAF=2.9893,36.1994,13.0644;ESP6500_TAC=596,3966	GT:AD:DP:GQ:PL	0/1:11,13:24:99:315,0,239
chr2	181898859	rs3731693	G	A	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.525;SOR=0.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731693;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287505.1|protein_coding||c.*6195G>A|||||4162|,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001130445.2|protein_coding|4/17|c.365-21G>A||||||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287503.1|protein_coding|4/16|c.365-21G>A||||||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287504.1|protein_coding|3/15|c.-95-21G>A||||||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_006751.6|protein_coding|4/16|c.365-21G>A||||||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NR_109843.1|pseudogene|4/17|n.716-21G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=424;p3_1000G_AF=0.0846645;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=11418;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.0348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182763586;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=534,3872;ESP6500_AA_AGE=776.1+/-414.1;ESP6500_AA_GTC=32,470,1701;ESP6500_CDS_SIZES=NM_006751.5:3771,NM_001130445.1:3780;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=160;ESP6500_EA_AC=203,8395;ESP6500_EA_AGE=808.7+/-407.2;ESP6500_EA_GTC=3,197,4099;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006751.5:intron,NM_001130445.1:intron;ESP6500_GL=SSFA2;ESP6500_GRCh38_POSITION=2:181898859;ESP6500_GTC=35,667,5800;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006751.5:c.365-21G>A,NM_001130445.1:c.365-21G>A;ESP6500_MAF=2.361,12.1198,5.6675;ESP6500_TAC=737,12267	GT:AD:DP:GQ:PL	0/1:15,20:35:99:460,0,283
chr2	181900648	rs79209485	A	G	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.067;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=0.088;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79209485;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001130445.2|protein_coding|6/17|c.504-48A>G||||||,G|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287503.1|protein_coding|6/16|c.504-48A>G||||||,G|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287504.1|protein_coding|5/15|c.45-48A>G||||||,G|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_006751.6|protein_coding|6/16|c.504-48A>G||||||,G|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NR_109843.1|pseudogene|6/17|n.855-48A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=396;p3_1000G_AF=0.0790735;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.0389;p3_1000G_AN=5008;p3_1000G_DP=17757;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.0338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182765375;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=397,3981;ESP6500_AA_GTC=14,369,1806;ESP6500_CDS_SIZES=NM_006751.5:3771,NM_001130445.1:3780;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=21;ESP6500_EA_AC=198,8364;ESP6500_EA_GTC=3,192,4086;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006751.5:intron,NM_001130445.1:intron;ESP6500_GL=SSFA2;ESP6500_GRCh38_POSITION=2:181900648;ESP6500_GTC=17,561,5892;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006751.5:c.504-48A>G,NM_001130445.1:c.504-48A>G;ESP6500_MAF=2.3125,9.0681,4.5981;ESP6500_TAC=595,12345	GT:AD:DP:GQ:PL	0/1:5,10:15:99:273,0,129
chr2	181910560	rs79765809	T	C	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.321;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79765809;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001130445.2|protein_coding|9/17|c.1486+589T>C||||||,C|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287503.1|protein_coding|9/16|c.1486+589T>C||||||,C|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287504.1|protein_coding|8/15|c.1027+589T>C||||||,C|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_006751.6|protein_coding|9/16|c.1486+589T>C||||||,C|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NR_109843.1|pseudogene|9/17|n.1837+589T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=275;p3_1000G_AF=0.0549121;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=18656;p3_1000G_EAS_AF=0.0853;p3_1000G_EUR_AF=0.0328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182775287;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,13:29:99:353,0,387
chr2	181915580	rs75716247	G	A	863.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.169;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=2.205;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.834;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75716247;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|SSFA2|SSFA2|transcript|NM_001130445.2|protein_coding|11/18|c.1940G>A|p.Gly647Asp|2291/5321|1940/3780|647/1259||,A|missense_variant|MODERATE|SSFA2|SSFA2|transcript|NM_001287503.1|protein_coding|11/17|c.1940G>A|p.Gly647Asp|2291/5255|1940/3714|647/1237||,A|missense_variant|MODERATE|SSFA2|SSFA2|transcript|NM_001287504.1|protein_coding|10/16|c.1481G>A|p.Gly494Asp|2241/5205|1481/3255|494/1084||,A|missense_variant|MODERATE|SSFA2|SSFA2|transcript|NM_006751.6|protein_coding|11/17|c.1940G>A|p.Gly647Asp|2291/5203|1940/3771|647/1256||,A|non_coding_transcript_exon_variant|MODIFIER|SSFA2|SSFA2|transcript|NR_109843.1|pseudogene|11/18|n.2291G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=423;p3_1000G_AF=0.0844649;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=23194;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.0348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182780307;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=527,3879;ESP6500_AA_AGE=775.2+/-414.1;ESP6500_AA_GTC=31,465,1707;ESP6500_CDS_SIZES=NM_006751.5:3771,NM_001130445.1:3780;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=90;ESP6500_EA_AC=204,8396;ESP6500_EA_AGE=809.3+/-407.2;ESP6500_EA_GTC=3,198,4099;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006751.5:missense,NM_001130445.1:missense;ESP6500_GL=SSFA2;ESP6500_GRCh38_POSITION=2:181915580;ESP6500_GS=94,94;ESP6500_GTC=34,663,5806;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006751.5:c.1940G>A,NM_001130445.1:c.1940G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006751.5:p.(G647D),NM_001130445.1:p.(G647D);ESP6500_MAF=2.3721,11.961,5.6205;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=731,12275	GT:AD:DP:GQ:PL	0/1:25,36:61:99:892,0,635
chr2	181919267	rs2288330	C	A	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.21;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=8.541;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=-0.458;SOR=2.904;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288330;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001130445.2|protein_coding|13/17|c.2994-29C>A||||||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287503.1|protein_coding|13/16|c.2994-29C>A||||||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_001287504.1|protein_coding|12/15|c.2535-29C>A||||||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_006751.6|protein_coding|13/16|c.2994-29C>A||||||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NR_109843.1|pseudogene|13/17|n.3923-29C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=423;p3_1000G_AF=0.0844649;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.0348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182783994;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=531,3875;ESP6500_AA_AGE=774.9+/-414.1;ESP6500_AA_GTC=32,467,1704;ESP6500_CDS_SIZES=NM_006751.5:3771,NM_001130445.1:3780;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=204,8396;ESP6500_EA_AGE=809.9+/-407.1;ESP6500_EA_GTC=3,198,4099;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006751.5:intron,NM_001130445.1:intron;ESP6500_GL=SSFA2;ESP6500_GRCh38_POSITION=2:181919267;ESP6500_GTC=35,665,5803;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_006751.5:c.2994-29C>A,NM_001130445.1:c.2994-29C>A;ESP6500_MAF=2.3721,12.0517,5.6512;ESP6500_TAC=735,12271	GT:AD:DP:GQ:PL	0/1:17,8:25:99:204,0,481
chr2	181928257	rs2303554	T	A	229.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.362;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.394;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303554;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|SSFA2|SSFA2|transcript|NM_001130445.2|protein_coding|17/18|c.3772T>A|p.Tyr1258Asn|4123/5321|3772/3780|1258/1259||,A|missense_variant|MODERATE|SSFA2|SSFA2|transcript|NM_001287503.1|protein_coding|16/17|c.3706T>A|p.Tyr1236Asn|4057/5255|3706/3714|1236/1237||,A|missense_variant|MODERATE|SSFA2|SSFA2|transcript|NM_001287504.1|protein_coding|15/16|c.3247T>A|p.Tyr1083Asn|4007/5205|3247/3255|1083/1084||,A|intron_variant|MODIFIER|SSFA2|SSFA2|transcript|NM_006751.6|protein_coding|16/16|c.3676-1304T>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|SSFA2|SSFA2|transcript|NR_109843.1|pseudogene|17/18|n.4701T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=407;p3_1000G_AF=0.08127;p3_1000G_AFR_AF=0.112;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=16848;p3_1000G_EAS_AF=0.0843;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182792984;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,12:30:99:258,0,455
chr2	181988002	rs16867515	A	G	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=5.611;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.77;ReadPosRankSum=-1.27;SOR=3.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16867515;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001261424.1|protein_coding|2/5|c.163+103A>G||||||,G|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NR_048567.1|pseudogene|2/4|n.440+12738A>G||||||,G|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001080545.2|protein_coding|2/4|c.142+103A>G||||||,G|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001261425.1|protein_coding|2/5|c.142+103A>G||||||,G|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NR_048566.1|pseudogene|2/5|n.429+103A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=580;p3_1000G_AF=0.115815;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=21268;p3_1000G_EAS_AF=0.1329;p3_1000G_EUR_AF=0.0805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182852729;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,12:14:33:403,0,33
chr2	182063828	rs1196161	G	C	1667.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.04;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1196161;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001261424.1|protein_coding|4/5|c.262+37G>C||||||,C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NR_048567.1|pseudogene|4/4|n.539+37G>C||||||,C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001080545.2|protein_coding|4/4|c.241+37G>C||||||,C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001261425.1|protein_coding|4/5|c.241+37G>C||||||,C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NR_048566.1|pseudogene|4/5|n.528+37G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4414;p3_1000G_AF=0.88139;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=18233;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182928555;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3320,578;ESP6500_AA_GTC=1420,480,49;ESP6500_CDS_SIZES=NM_001261425.1:330,NM_001261424.1:351,NM_001080545.2:330;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=117;ESP6500_EA_AC=7947,347;ESP6500_EA_GTC=3810,327,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001261425.1:intron,NM_001261424.1:intron,NM_001080545.2:intron;ESP6500_GL=PPP1R1C;ESP6500_GRCh38_POSITION=2:182063828;ESP6500_GTC=5230,807,59;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001261425.1:c.241+37G>C,NM_001261424.1:c.262+37G>C,NM_001080545.2:c.241+37G>C;ESP6500_MAF=4.1837,14.8281,7.5869;ESP6500_TAC=11267,925	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1696,147,0
chr2	182117119	rs1882211	G	C	106.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.51;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1882211;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001261424.1|protein_coding|4/5|c.263-88G>C||||||,C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NR_048567.1|pseudogene|4/4|n.540-88G>C||||||,C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001080545.2|protein_coding|4/4|c.242-88G>C||||||,C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NM_001261425.1|protein_coding|4/5|c.242-88G>C||||||,C|intron_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NR_048566.1|pseudogene|4/5|n.529-88G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3033;p3_1000G_AF=0.605631;p3_1000G_AFR_AF=0.6755;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=17937;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182981846;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:134,12,0
chr2	182117241	rs1882212	A	G	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.077;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.132;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1882212;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|PPP1R1C|PPP1R1C|transcript|NM_001261424.1|protein_coding|5/6|c.297A>G|p.Ala99Ala|584/3053|297/351|99/116||,G|synonymous_variant|LOW|PPP1R1C|PPP1R1C|transcript|NM_001080545.2|protein_coding|5/5|c.276A>G|p.Ala92Ala|563/1078|276/330|92/109||,G|synonymous_variant|LOW|PPP1R1C|PPP1R1C|transcript|NM_001261425.1|protein_coding|5/6|c.276A>G|p.Ala92Ala|563/3032|276/330|92/109||,G|non_coding_transcript_exon_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NR_048567.1|pseudogene|5/5|n.574A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|PPP1R1C|PPP1R1C|transcript|NR_048566.1|pseudogene|5/6|n.563A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=1704;p3_1000G_AF=0.340256;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=18159;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.2048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=182981968;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1949,1799;ESP6500_AA_GTC=507,935,432;ESP6500_CDS_SIZES=NM_001261425.1:330,NM_001261424.1:351,NM_001080545.2:330;ESP6500_CG=-6.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=51;ESP6500_EA_AC=1779,6421;ESP6500_EA_GTC=206,1367,2527;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001261425.1:coding-synonymous,NM_001261424.1:coding-synonymous,NM_001080545.2:coding-synonymous;ESP6500_GL=PPP1R1C;ESP6500_GRCh38_POSITION=2:182117241;ESP6500_GTC=713,2302,2959;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001261425.1:c.276A>G,NM_001261424.1:c.297A>G,NM_001080545.2:c.276A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001261425.1:p.(A92),NM_001261424.1:p.(A99),NM_001080545.2:p.(A92);ESP6500_MAF=21.6951,47.9989,31.2019;ESP6500_TAC=3728,8220	GT:AD:DP:GQ:PL	0/1:10,12:22:99:279,0,226
chr2	182168293	rs199755981	GA	G	120.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.862;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.156;SOR=0.495;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs199755981;dbSNPBuildID=137;ANN=G|splice_region_variant&intron_variant|LOW|PDE1A|PDE1A|transcript|NM_001258314.1|protein_coding|12/12|c.1463-4delT||||||,G|splice_region_variant&intron_variant|LOW|PDE1A|PDE1A|transcript|NM_001258313.1|protein_coding|13/13|c.1517-4delT||||||,G|splice_region_variant&intron_variant|LOW|PDE1A|PDE1A|transcript|NM_001003683.2|protein_coding|14/14|c.1565-4delT||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258312.1|protein_coding|14/15|c.1576+17598delT||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_005019.4|protein_coding|13/14|c.1564+17598delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1574;p3_1000G_AF=0.314297;p3_1000G_AFR_AF=0.3351;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=19971;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183033020;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,7:12:98:158,0,98
chr2	182188931	rs3769796	C	G	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.17;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=0.143;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769796;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258312.1|protein_coding|12/15|c.1267+48G>C||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_005019.4|protein_coding|11/14|c.1255+48G>C||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258314.1|protein_coding|10/12|c.1153+48G>C||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258313.1|protein_coding|11/13|c.1207+48G>C||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001003683.2|protein_coding|12/14|c.1255+48G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1039;p3_1000G_AF=0.207468;p3_1000G_AFR_AF=0.1891;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=17917;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.172;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183053658;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.18;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=835,3571;ESP6500_AA_AGE=330.7+/-301.6;ESP6500_AA_GTC=88,659,1456;ESP6500_CDS_SIZES=NM_005019.4:1638,NM_001258314.1:1506,NM_001258313.1:1560,NM_001258312.1:1650,NM_001003683.2:1608;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=164;ESP6500_EA_AC=1512,7088;ESP6500_EA_AGE=285.8+/-297.4;ESP6500_EA_GTC=142,1228,2930;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005019.4:intron,NM_001258314.1:intron,NM_001258313.1:intron,NM_001258312.1:intron,NM_001003683.2:intron;ESP6500_GL=PDE1A;ESP6500_GRCh38_POSITION=2:182188931;ESP6500_GTC=230,1887,4386;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005019.4:c.1255+48G>C,NM_001258314.1:c.1153+48G>C,NM_001258313.1:c.1207+48G>C,NM_001258312.1:c.1267+48G>C,NM_001003683.2:c.1255+48G>C;ESP6500_MAF=17.5814,18.9514,18.0455;ESP6500_TAC=2347,10659	GT:AD:DP:GQ:PL	0/1:5,7:12:99:224,0,162
chr2	182201650	rs111979949	C	CAA	527.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.91;SOR=1.473;INS;HET;VARTYPE=INS;dbSNP138_ID=rs72168532;dbSNPBuildID=132;ANN=CAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258312.1|protein_coding|10/15|c.1064+36_1064+37dupTT||||||,CAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_005019.4|protein_coding|9/14|c.1052+36_1052+37dupTT||||||,CAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258314.1|protein_coding|8/12|c.950+36_950+37dupTT||||||,CAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258313.1|protein_coding|9/13|c.1004+36_1004+37dupTT||||||,CAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001003683.2|protein_coding|10/14|c.1052+36_1052+37dupTT||||||	GT:AD:DP:GQ:PL	1/0:0,6:6:99:565,219,175
chr2	182201650	rs111979949	C	CAAA	527.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.91;SOR=1.473;INS;HET;VARTYPE=INS;dbSNPBuildID=132;ANN=CAAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258312.1|protein_coding|10/15|c.1064+35_1064+37dupTTT||||||,CAAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_005019.4|protein_coding|9/14|c.1052+35_1052+37dupTTT||||||,CAAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258314.1|protein_coding|8/12|c.950+35_950+37dupTTT||||||,CAAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258313.1|protein_coding|9/13|c.1004+35_1004+37dupTTT||||||,CAAA|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001003683.2|protein_coding|10/14|c.1052+35_1052+37dupTTT||||||	GT:AD:DP:GQ:PL	0/1:0,9:9:99:565,146,104
chr2	182223857	rs3754929	G	A	583.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.2;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3754929;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|PDE1A|PDE1A|transcript|NM_001258312.1|protein_coding|8/15|c.836+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PDE1A|PDE1A|transcript|NM_005019.4|protein_coding|7/14|c.824+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PDE1A|PDE1A|transcript|NM_001258314.1|protein_coding|6/12|c.722+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PDE1A|PDE1A|transcript|NM_001258313.1|protein_coding|7/13|c.776+7C>T||||||,A|splice_region_variant&intron_variant|LOW|PDE1A|PDE1A|transcript|NM_001003683.2|protein_coding|8/14|c.824+7C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3638;p3_1000G_AF=0.726438;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=15324;p3_1000G_EAS_AF=0.7589;p3_1000G_EUR_AF=0.6461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183088584;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3212,1194;ESP6500_AA_AGE=405.8+/-333.6;ESP6500_AA_GTC=1179,854,170;ESP6500_CDS_SIZES=NM_005019.4:1638,NM_001258314.1:1506,NM_001258313.1:1560,NM_001258312.1:1650,NM_001003683.2:1608;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=50;ESP6500_EA_AC=5833,2763;ESP6500_EA_AGE=432.9+/-357.3;ESP6500_EA_GTC=1987,1859,452;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005019.4:intron,NM_001258314.1:intron,NM_001258313.1:intron,NM_001258312.1:intron,NM_001003683.2:intron;ESP6500_GL=PDE1A;ESP6500_GRCh38_POSITION=2:182223857;ESP6500_GTC=3166,2713,622;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005019.4:c.824+7C>T,NM_001258314.1:c.722+7C>T,NM_001258313.1:c.776+7C>T,NM_001258312.1:c.836+7C>T,NM_001003683.2:c.824+7C>T;ESP6500_MAF=32.1429,27.0994,30.4338;ESP6500_TAC=9045,3957	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:51:1|1:182223857_G_A:612,51,0
chr2	182241700	rs2623435	C	G	224.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2623435;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258312.1|protein_coding|3/15|c.228-1408G>C||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_005019.4|protein_coding|2/14|c.216-1408G>C||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258314.1|protein_coding|1/12|c.113+102G>C||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001258313.1|protein_coding|2/13|c.168-1408G>C||||||,G|intron_variant|MODIFIER|PDE1A|PDE1A|transcript|NM_001003683.2|protein_coding|3/14|c.216-1408G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3792;p3_1000G_AF=0.757188;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=18192;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.6471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183106427;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:253,21,0
chr2	182728970	rs288280	C	T	489.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.275;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.235;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.638;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs288280;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|7/24|c.609C>T|p.Ser203Ser|1255/5919|609/2382|203/793||,T|synonymous_variant|LOW|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|7/23|c.609C>T|p.Ser203Ser|1255/5781|609/2244|203/747||,T|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|7/24|n.1255C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|7/25|n.1255C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|7/23|n.1255C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3318;p3_1000G_AF=0.66254;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=15766;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.6491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183593697;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7025;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3527,879;ESP6500_AA_AGE=343.3+/-307.6;ESP6500_AA_GTC=1417,693,93;ESP6500_CDS_SIZES=NM_018981.1:2382;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=128;ESP6500_EA_AC=5536,3064;ESP6500_EA_AGE=470.1+/-367.7;ESP6500_EA_GTC=1772,1992,536;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018981.1:coding-synonymous;ESP6500_GL=DNAJC10;ESP6500_GRCh38_POSITION=2:182728970;ESP6500_GTC=3189,2685,629;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018981.1:c.609C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018981.1:p.(S203);ESP6500_MAF=35.6279,19.9501,30.3168;ESP6500_TAC=9063,3943	GT:AD:DP:GQ:PL	0/1:18,21:39:99:518,0,436
chr2	182732591	rs825660	A	G	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.133;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-2.264;SOR=0.465;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs825660;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|10/23|c.849+49A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|10/22|c.849+49A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|10/23|n.1495+49A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|10/24|n.1495+49A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|9/22|n.1451+1484A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3380;p3_1000G_AF=0.67492;p3_1000G_AFR_AF=0.8623;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=18631;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183597318;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3652,754;ESP6500_AA_AGE=308.3+/-290.5;ESP6500_AA_GTC=1515,622,66;ESP6500_CDS_SIZES=NM_018981.1:2382;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=81;ESP6500_EA_AC=5545,3055;ESP6500_EA_AGE=467.5+/-367.1;ESP6500_EA_GTC=1780,1985,535;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018981.1:intron;ESP6500_GL=DNAJC10;ESP6500_GRCh38_POSITION=2:182732591;ESP6500_GTC=3295,2607,601;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018981.1:c.849+49A>G;ESP6500_MAF=35.5233,17.113,29.2865;ESP6500_TAC=9197,3809	GT:AD:DP:GQ:PL	0/1:18,15:33:99:355,0,467
chr2	182740350	rs13414223	C	A	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.721;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=0.449;SOR=0.559;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13414223;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|12/24|c.1039C>A|p.Leu347Ile|1685/5919|1039/2382|347/793||,A|missense_variant|MODERATE|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|11/23|c.901C>A|p.Leu301Ile|1547/5781|901/2244|301/747||,A|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|12/24|n.2439C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|12/25|n.2439C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|10/23|n.1503C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=252;p3_1000G_AF=0.0503195;p3_1000G_AFR_AF=0.0401;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=15834;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183605077;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=115,4269;ESP6500_AA_AGE=78.3+/-116.7;ESP6500_AA_GTC=2,111,2079;ESP6500_CDS_SIZES=NM_018981.1:2382;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=37;ESP6500_EA_AC=45,8481;ESP6500_EA_AGE=27.9+/-77.7;ESP6500_EA_GTC=0,45,4218;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018981.1:missense;ESP6500_GL=DNAJC10;ESP6500_GRCh38_POSITION=2:182740350;ESP6500_GS=5;ESP6500_GTC=2,156,6297;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_018981.1:c.1039C>A;ESP6500_HGVS_PROTEIN_VAR=NM_018981.1:p.(L347I);ESP6500_MAF=0.5278,2.6232,1.2393;ESP6500_PH=probably-damaging:0.997;ESP6500_TAC=160,12750	GT:AD:DP:GQ:PL	0/1:20,7:27:99:105,0,505
chr2	182752021	rs3115425	G	C	493.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.46;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3115425;dbSNPBuildID=103;ANN=C|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|15/23|c.1435-51G>C||||||,C|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|14/22|c.1297-51G>C||||||,C|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|15/23|n.2835-51G>C||||||,C|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|15/24|n.2835-51G>C||||||,C|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|13/22|n.1899-51G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3115;p3_1000G_AF=0.622005;p3_1000G_AFR_AF=0.7012;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=15854;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.6431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183616748;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3107,1299;ESP6500_AA_AGE=658.8+/-400.5;ESP6500_AA_GTC=1117,873,213;ESP6500_CDS_SIZES=NM_018981.1:2382;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_103;ESP6500_DP=82;ESP6500_EA_AC=5452,3148;ESP6500_EA_AGE=637.7+/-399.2;ESP6500_EA_GTC=1723,2006,571;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018981.1:intron;ESP6500_GL=DNAJC10;ESP6500_GRCh38_POSITION=2:182752021;ESP6500_GTC=2840,2879,784;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018981.1:c.1435-51G>C;ESP6500_MAF=36.6047,29.4825,34.1919;ESP6500_TAC=8559,4447	GT:AD:DP:GQ:PL	0/1:20,19:39:99:522,0,444
chr2	182756396	.	G	A	453.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.623;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.441;SOR=0.73;SNP;HET;VARTYPE=SNP;ANN=A|stop_gained|HIGH|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|18/24|c.1736G>A|p.Trp579*|2382/5919|1736/2382|579/793||,A|stop_gained|HIGH|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|17/23|c.1598G>A|p.Trp533*|2244/5781|1598/2244|533/747||,A|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|18/24|n.3136G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|19/25|n.3239G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|17/23|n.2275G>A||||||;LOF=(DNAJC10|DNAJC10|5|0.40);NMD=(DNAJC10|DNAJC10|5|0.40)	GT:AD:DP:GQ:PL	0/1:18,21:39:99:482,0,427
chr2	182757820	rs288334	T	G	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.191;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.097;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs288334;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|19/24|c.1938T>G|p.His646Gln|2584/5919|1938/2382|646/793||,G|missense_variant|MODERATE|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|18/23|c.1800T>G|p.His600Gln|2446/5781|1800/2244|600/747||,G|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|19/24|n.3338T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|20/25|n.3441T>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|18/23|n.2477T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3318;p3_1000G_AF=0.66254;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=14037;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.6481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183622547;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7035;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3528,878;ESP6500_AA_AGE=334.1+/-303.3;ESP6500_AA_GTC=1419,690,94;ESP6500_CDS_SIZES=NM_018981.1:2382;ESP6500_CG=-1.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=56;ESP6500_EA_AC=5539,3059;ESP6500_EA_AGE=465.4+/-366.5;ESP6500_EA_GTC=1774,1991,534;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018981.1:missense;ESP6500_GL=DNAJC10;ESP6500_GRCh38_POSITION=2:182757820;ESP6500_GS=24;ESP6500_GTC=3193,2681,628;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018981.1:c.1938T>G;ESP6500_HGVS_PROTEIN_VAR=NM_018981.1:p.(H646Q);ESP6500_MAF=35.578,19.9274,30.2753;ESP6500_PH=benign:0.0;ESP6500_TAC=9067,3937	GT:AD:DP:GQ:PL	0/1:5,6:11:99:183,0,142
chr2	182757914	rs288333	A	G	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs288333;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|19/23|c.1943+89A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|18/22|c.1805+89A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|19/23|n.3343+89A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|20/24|n.3446+89A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|18/22|n.2482+89A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1162;p3_1000G_AF=0.232029;p3_1000G_AFR_AF=0.6044;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=16222;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183622641;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr2	182759033	rs16823660	A	G	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.91;ReadPosRankSum=0.194;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16823660;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|20/23|c.1998-127A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|19/22|c.1860-127A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|20/23|n.3398-127A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|21/24|n.3501-127A>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|19/22|n.2537-127A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=252;p3_1000G_AF=0.0503195;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=16096;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183623760;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:98:313,0,98
chr2	182762777	rs192618	A	G	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.218;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-0.64;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs192618;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|22/24|c.2241A>G|p.Lys747Lys|2887/5919|2241/2382|747/793||,G|synonymous_variant|LOW|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|21/23|c.2103A>G|p.Lys701Lys|2749/5781|2103/2244|701/747||,G|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|22/24|n.3641A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|23/25|n.3744A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|21/23|n.2780A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3122;p3_1000G_AF=0.623403;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=15606;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.6431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183627504;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3141,1265;ESP6500_AA_AGE=701.9+/-406.8;ESP6500_AA_GTC=1126,889,188;ESP6500_CDS_SIZES=NM_018981.1:2382;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=112;ESP6500_EA_AC=5472,3128;ESP6500_EA_AGE=657.5+/-401.5;ESP6500_EA_GTC=1726,2020,554;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018981.1:coding-synonymous;ESP6500_GL=DNAJC10;ESP6500_GRCh38_POSITION=2:182762777;ESP6500_GTC=2852,2909,742;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018981.1:c.2241A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018981.1:p.(K747);ESP6500_MAF=36.3721,28.7108,33.7767;ESP6500_TAC=8613,4393	GT:AD:DP:GQ:PL	0/1:12,11:23:99:239,0,283
chr2	182762892	rs190830	C	G	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.18;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.559;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs190830;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_018981.2|protein_coding|22/23|c.2265+91C>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NM_001271581.1|protein_coding|21/22|c.2127+91C>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073365.1|pseudogene|22/23|n.3665+91C>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073366.1|pseudogene|23/24|n.3768+91C>G||||||,G|intron_variant|MODIFIER|DNAJC10|DNAJC10|transcript|NR_073367.1|pseudogene|21/22|n.2804+91C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3332;p3_1000G_AF=0.665335;p3_1000G_AFR_AF=0.829;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=15479;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.6481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183627619;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:150,0,109
chr2	182934830	rs9288088	G	C	333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9288088;dbSNPBuildID=119;ANN=C|splice_region_variant&synonymous_variant|LOW|NCKAP1|NCKAP1|transcript|NM_205842.2|protein_coding|27/32|c.2799C>G|p.Val933Val|3558/5015|2799/3405|933/1134||,C|splice_region_variant&synonymous_variant|LOW|NCKAP1|NCKAP1|transcript|NM_013436.4|protein_coding|26/31|c.2781C>G|p.Val927Val|3540/4997|2781/3387|927/1128||;p3_1000G_AA=G|||;p3_1000G_AC=3524;p3_1000G_AF=0.703674;p3_1000G_AFR_AF=0.2791;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=14877;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.7883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183799558;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8722;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1533,2861;ESP6500_AA_GTC=278,977,942;ESP6500_CDS_SIZES=NM_205842.1:3405,NM_013436.3:3387;ESP6500_CG=-1.5;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=31;ESP6500_EA_AC=6696,1878;ESP6500_EA_GTC=2626,1444,217;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205842.1:coding-synonymous,NM_013436.3:coding-synonymous;ESP6500_GL=NCKAP1;ESP6500_GRCh38_POSITION=2:182934830;ESP6500_GTC=2904,2421,1159;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_205842.1:c.2799C>G,NM_013436.3:c.2781C>G;ESP6500_HGVS_PROTEIN_VAR=NM_205842.1:p.(V933),NM_013436.3:p.(V927);ESP6500_MAF=21.9034,34.8885,36.5438;ESP6500_TAC=8229,4739	GT:AD:DP:GQ:PL	1/1:0,11:11:33:362,33,0
chr2	182962290	rs2271671	G	A	959.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=2.694;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271671;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NCKAP1|NCKAP1|transcript|NM_205842.2|protein_coding|18/31|c.1780-12C>T||||||,A|intron_variant|MODIFIER|NCKAP1|NCKAP1|transcript|NM_013436.4|protein_coding|17/30|c.1762-12C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3104;p3_1000G_AF=0.619808;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=18179;p3_1000G_EAS_AF=0.8552;p3_1000G_EUR_AF=0.7266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183827018;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1267,3139;ESP6500_AA_AGE=409.7+/-335.1;ESP6500_AA_GTC=193,881,1129;ESP6500_CDS_SIZES=NM_205842.1:3405,NM_013436.3:3387;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=6262,2336;ESP6500_EA_AGE=684.9+/-404.0;ESP6500_EA_GTC=2282,1698,319;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205842.1:intron,NM_013436.3:intron;ESP6500_GL=NCKAP1;ESP6500_GRCh38_POSITION=2:182962290;ESP6500_GTC=2475,2579,1448;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_205842.1:c.1780-12C>T,NM_013436.3:c.1762-12C>T;ESP6500_MAF=27.1691,28.7562,42.1024;ESP6500_TAC=7529,5475	GT:AD:DP:GQ:PL	1/1:0,31:31:93:988,93,0
chr2	182986330	rs10185562	C	T	227.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10185562;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|NCKAP1|NCKAP1|transcript|NM_205842.2|protein_coding|10/31|c.966-103G>A||||||,T|intron_variant|MODIFIER|NCKAP1|NCKAP1|transcript|NM_013436.4|protein_coding|9/30|c.948-103G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4926;p3_1000G_AF=0.983626;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16530;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183851058;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:256,21,0
chr2	182994745	rs16823914	T	C	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.312;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=7.952;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.799;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16823914;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|NCKAP1|NCKAP1|transcript|NM_205842.2|protein_coding|9/31|c.808+94A>G||||||,C|intron_variant|MODIFIER|NCKAP1|NCKAP1|transcript|NM_013436.4|protein_coding|8/30|c.790+94A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=538;p3_1000G_AF=0.107428;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=17574;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.1342;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183859473;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,13:25:99:355,0,350
chr2	183083482	rs16823717	A	G	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.052;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=1.913;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.93;ReadPosRankSum=-1.655;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16823717;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|DUSP19|DUSP19|transcript|NM_080876.3|protein_coding|1/3|c.227-26A>G||||||,G|intron_variant|MODIFIER|DUSP19|DUSP19|transcript|NM_001142314.1|protein_coding|1/2|c.227-26A>G||||||,G|intron_variant|MODIFIER|DUSP19|DUSP19|transcript|NM_001321519.1|protein_coding|1/3|c.227-26A>G||||||,G|intron_variant|MODIFIER|DUSP19|DUSP19|transcript|NR_135688.1|pseudogene|1/2|n.602-3558A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=353;p3_1000G_AF=0.0704872;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=16631;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.0567;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183948210;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=106,4300;ESP6500_AA_AGE=79.3+/-117.8;ESP6500_AA_GTC=3,100,2100;ESP6500_CDS_SIZES=NM_080876.3:654,NM_001142314.1:501;ESP6500_CG=3.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=88;ESP6500_EA_AC=454,8138;ESP6500_EA_AGE=135.2+/-192.5;ESP6500_EA_GTC=7,440,3849;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080876.3:intron,NM_001142314.1:intron;ESP6500_GL=DUSP19;ESP6500_GRCh38_POSITION=2:183083482;ESP6500_GTC=10,540,5949;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080876.3:c.227-26A>G,NM_001142314.1:c.227-26A>G;ESP6500_MAF=5.284,2.4058,4.3084;ESP6500_TAC=560,12438	GT:AD:DP:GQ:PL	0/1:10,7:17:99:163,0,263
chr2	183095415	rs369540552;rs57818913	G	GT	174.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.94;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=1.35;SOR=0.184;INS;HET;VARTYPE=INS;dbSNP138_ID=rs57818913;dbSNPBuildID=138,129;ANN=GT|splice_region_variant&intron_variant|LOW|DUSP19|DUSP19|transcript|NM_080876.3|protein_coding|3/3|c.427-5dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|DUSP19|DUSP19|transcript|NM_001142314.1|protein_coding|2/2|c.274-5dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|DUSP19|DUSP19|transcript|NM_001321519.1|protein_coding|3/3|c.309-5dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|DUSP19|DUSP19|transcript|NR_135688.1|pseudogene|2/2|n.755-5dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,9:17:99:212,0,163
chr2	183095794	rs13399265	T	C	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.98;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.058;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13399265;dbSNPBuildID=121;ANN=C|3_prime_UTR_variant|MODIFIER|DUSP19|DUSP19|transcript|NM_080876.3|protein_coding|4/4|c.*136T>C|||||136|,C|3_prime_UTR_variant|MODIFIER|DUSP19|DUSP19|transcript|NM_001142314.1|protein_coding|3/3|c.*136T>C|||||136|,C|3_prime_UTR_variant|MODIFIER|DUSP19|DUSP19|transcript|NM_001321519.1|protein_coding|4/4|c.*306T>C|||||306|,C|non_coding_transcript_exon_variant|MODIFIER|DUSP19|DUSP19|transcript|NR_135688.1|pseudogene|3/3|n.1118T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.1831;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=19048;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.6332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183960522;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:277,0,325
chr2	183128505	rs79968280	A	G	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-0.712;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79968280;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|2/8|c.211+48A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|3/9|c.160+48A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|2/9|c.-267+48A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|2/7|n.314+48A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=418;p3_1000G_AF=0.0834665;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=17240;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183993233;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=78,4326;ESP6500_AA_AGE=57.4+/-93.9;ESP6500_AA_GTC=0,78,2124;ESP6500_CDS_SIZES=NM_138285.3:981;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=23;ESP6500_EA_AC=463,8137;ESP6500_EA_AGE=117.7+/-177.3;ESP6500_EA_GTC=8,447,3845;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138285.3:intron;ESP6500_GL=NUP35;ESP6500_GRCh38_POSITION=2:183128505;ESP6500_GTC=8,525,5969;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138285.3:c.211+48A>G;ESP6500_MAF=5.3837,1.7711,4.1603;ESP6500_TAC=541,12463	GT:AD:DP:GQ:PL	0/1:2,5:7:54:143,0,54
chr2	183130347	rs9333281	A	G	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.981;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9333281;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|2/8|c.212-71A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|3/9|c.161-71A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|2/9|c.-266-71A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|2/7|n.315-71A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=416;p3_1000G_AF=0.0830671;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=14544;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183995075;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:46:120,0,46
chr2	183130387	rs1479759773;rs34173657	CTT	C	379.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.28;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34173657;dbSNPBuildID=151,138;ANN=C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|2/8|c.212-13_212-12delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|3/9|c.161-13_161-12delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|2/9|c.-266-13_-266-12delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|2/7|n.315-13_315-12delTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=680;p3_1000G_AF=0.135783;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=16455;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.0905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183995115;p3_1000G_GRCH37_REF=CTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,9:9:16:391,16,0
chr2	183130393	rs542876332	T	A	343.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.231;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=31.25;ReadPosRankSum=-0.126;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|2/8|c.212-25T>A||||||,A|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|3/9|c.161-25T>A||||||,A|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|2/9|c.-266-25T>A||||||,A|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|2/7|n.315-25T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=680;p3_1000G_AF=0.135783;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=15099;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.0905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183995121;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,9:11:26:0|1:183130393_T_A:372,0,26
chr2	183130414	rs9333283	G	T	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.29;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.43;ReadPosRankSum=1.92;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9333283;dbSNPBuildID=119;ANN=T|splice_region_variant&intron_variant|LOW|NUP35|NUP35|transcript|NM_138285.4|protein_coding|2/8|c.212-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|3/9|c.161-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|2/9|c.-266-4G>T||||||,T|splice_region_variant&intron_variant|LOW|NUP35|NUP35|transcript|NR_109856.1|pseudogene|2/7|n.315-4G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=416;p3_1000G_AF=0.0830671;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=10989;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183995142;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=82,4324;ESP6500_AA_AGE=68.7+/-106.4;ESP6500_AA_GTC=0,82,2121;ESP6500_CDS_SIZES=NM_138285.3:981;ESP6500_CG=2.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=48;ESP6500_EA_AC=473,8127;ESP6500_EA_AGE=137.1+/-194.1;ESP6500_EA_GTC=8,457,3835;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138285.3:intron;ESP6500_GL=NUP35;ESP6500_GRCh38_POSITION=2:183130414;ESP6500_GTC=8,539,5956;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_138285.3:c.212-4G>T;ESP6500_MAF=5.5,1.8611,4.2673;ESP6500_TAC=555,12451	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,12:18:99:0|1:183130393_T_A:450,0,139
chr2	183131014	rs925803	A	C	893.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs925803;dbSNPBuildID=86;ANN=C|5_prime_UTR_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|4/10|c.-119A>C|||||2567|,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|3/8|c.339+469A>C||||||,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|4/9|c.288+469A>C||||||,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|3/7|n.442+469A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3834;p3_1000G_AF=0.765575;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=15676;p3_1000G_EAS_AF=0.5377;p3_1000G_EUR_AF=0.8072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183995742;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:922,90,0
chr2	183133523	rs16824018	A	G	165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.591;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.032;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16824018;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|3/8|c.340-43A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|4/9|c.289-43A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|4/9|c.-15-43A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|3/7|n.443-43A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=407;p3_1000G_AF=0.08127;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=14839;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=183998251;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=70,4334;ESP6500_AA_AGE=64.1+/-101.4;ESP6500_AA_GTC=0,70,2132;ESP6500_CDS_SIZES=NM_138285.3:981;ESP6500_CG=-7.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=81;ESP6500_EA_AC=472,8128;ESP6500_EA_AGE=137.9+/-194.8;ESP6500_EA_GTC=8,456,3836;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138285.3:intron;ESP6500_GL=NUP35;ESP6500_GRCh38_POSITION=2:183133523;ESP6500_GTC=8,526,5968;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138285.3:c.340-43A>G;ESP6500_MAF=5.4884,1.5895,4.1679;ESP6500_TAC=542,12462	GT:AD:DP:GQ:PL	0/1:5,8:13:98:194,0,98
chr2	183133638	rs778645699;rs80134003	CTT	C	32.71	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.35;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs80134003;dbSNPBuildID=144,131;ANN=C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|4/8|c.397+31_397+32delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|5/9|c.346+31_346+32delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|5/9|c.43+31_43+32delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|4/7|n.500+31_500+32delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:6:69,6,0
chr2	183151664	rs3762476	C	T	296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.782;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.058;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762476;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|5/8|c.539+15C>T||||||,T|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|6/9|c.488+15C>T||||||,T|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|6/9|c.185+15C>T||||||,T|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|4/7|n.501-5780C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=411;p3_1000G_AF=0.0820687;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=17469;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184016392;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=67,4339;ESP6500_AA_AGE=815.1+/-416.2;ESP6500_AA_GTC=0,67,2136;ESP6500_CDS_SIZES=NM_138285.3:981;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=81;ESP6500_EA_AC=474,8126;ESP6500_EA_AGE=796.3+/-407.5;ESP6500_EA_GTC=8,458,3834;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138285.3:intron;ESP6500_GL=NUP35;ESP6500_GRCh38_POSITION=2:183151664;ESP6500_GTC=8,525,5970;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138285.3:c.539+15C>T;ESP6500_MAF=5.5116,1.5207,4.1596;ESP6500_TAC=541,12465	GT:AD:DP:GQ:PL	0/1:13,14:27:99:325,0,357
chr2	183158423	rs3748881	G	A	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.475;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.981;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748881;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|7/8|c.738+12G>A||||||,A|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|8/9|c.687+12G>A||||||,A|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|8/9|c.384+12G>A||||||,A|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|6/7|n.699+12G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=411;p3_1000G_AF=0.0820687;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=18966;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184023151;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=67,4339;ESP6500_AA_AGE=62.9+/-100.1;ESP6500_AA_GTC=0,67,2136;ESP6500_CDS_SIZES=NM_138285.3:981;ESP6500_CG=0.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=86;ESP6500_EA_AC=473,8127;ESP6500_EA_AGE=139.5+/-196.2;ESP6500_EA_GTC=8,457,3835;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138285.3:intron;ESP6500_GL=NUP35;ESP6500_GRCh38_POSITION=2:183158423;ESP6500_GTC=8,524,5971;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_138285.3:c.738+12G>A;ESP6500_MAF=5.5,1.5207,4.1519;ESP6500_TAC=540,12466	GT:AD:DP:GQ:PL	0/1:4,5:9:99:136,0,107
chr2	183159462	rs3748884	A	G	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.41;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=1.74;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748884;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|7/8|c.739-26A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|8/9|c.688-26A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|8/9|c.385-26A>G||||||,G|intron_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|6/7|n.700-26A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=975;p3_1000G_AF=0.194688;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=18081;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.1481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184024190;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1462;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1420,2984;ESP6500_AA_AGE=446.3+/-348.0;ESP6500_AA_GTC=224,972,1006;ESP6500_CDS_SIZES=NM_138285.3:981;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=68;ESP6500_EA_AC=1438,7162;ESP6500_EA_AGE=265.0+/-285.9;ESP6500_EA_GTC=118,1202,2980;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138285.3:intron;ESP6500_GL=NUP35;ESP6500_GRCh38_POSITION=2:183159462;ESP6500_GTC=342,2174,3986;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138285.3:c.739-26A>G;ESP6500_MAF=16.7209,32.2434,21.9779;ESP6500_TAC=2858,10146	GT:AD:DP:GQ:PL	0/1:14,5:19:99:157,0,434
chr2	183161147	rs74849582	G	T	596.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.58;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.31;ReadPosRankSum=0.812;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74849582;dbSNPBuildID=131;ANN=T|3_prime_UTR_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|9/9|c.*16G>T|||||16|,T|3_prime_UTR_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|10/10|c.*16G>T|||||16|,T|3_prime_UTR_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|10/10|c.*16G>T|||||16|,T|non_coding_transcript_exon_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|8/8|n.958G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=411;p3_1000G_AF=0.0820687;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=18181;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184025875;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=55,4351;ESP6500_AA_AGE=36.0+/-67.5;ESP6500_AA_GTC=0,55,2148;ESP6500_CDS_SIZES=NM_138285.3:981;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=65;ESP6500_EA_AC=374,8226;ESP6500_EA_AGE=94.2+/-156.2;ESP6500_EA_GTC=8,358,3934;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138285.3:utr-3;ESP6500_GL=NUP35;ESP6500_GRCh38_POSITION=2:183161147;ESP6500_GTC=8,413,6082;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_138285.3:c.*16G>T;ESP6500_MAF=4.3488,1.2483,3.2985;ESP6500_TAC=429,12577	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,16:28:99:0|1:183161147_G_T:625,0,686
chr2	183161148	rs79259445	A	T	596.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.217;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.31;ReadPosRankSum=0.677;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79259445;dbSNPBuildID=131;ANN=T|3_prime_UTR_variant|MODIFIER|NUP35|NUP35|transcript|NM_138285.4|protein_coding|9/9|c.*17A>T|||||17|,T|3_prime_UTR_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287584.1|protein_coding|10/10|c.*17A>T|||||17|,T|3_prime_UTR_variant|MODIFIER|NUP35|NUP35|transcript|NM_001287585.1|protein_coding|10/10|c.*17A>T|||||17|,T|non_coding_transcript_exon_variant|MODIFIER|NUP35|NUP35|transcript|NR_109856.1|pseudogene|8/8|n.959A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=411;p3_1000G_AF=0.0820687;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=18175;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=184025876;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=57,4349;ESP6500_AA_AGE=37.6+/-69.7;ESP6500_AA_GTC=0,57,2146;ESP6500_CDS_SIZES=NM_138285.3:981;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=65;ESP6500_EA_AC=383,8217;ESP6500_EA_AGE=98.8+/-160.4;ESP6500_EA_GTC=8,367,3925;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138285.3:utr-3;ESP6500_GL=NUP35;ESP6500_GRCh38_POSITION=2:183161148;ESP6500_GTC=8,424,6071;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_138285.3:c.*17A>T;ESP6500_MAF=4.4535,1.2937,3.3831;ESP6500_TAC=440,12566	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,16:28:99:0|1:183161147_G_T:625,0,686
chr2	184599088	rs10689377;rs147358574;rs397787492;rs758298488	C	CCT	1522.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=33.1;ReadPosRankSum=-0.999;SOR=1.662;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs147358574;dbSNPBuildID=134,137,144,138;ANN=CCT|intron_variant|MODIFIER|ZNF804A|ZNF804A|transcript|NM_194250.1|protein_coding|1/3|c.111+32_111+33dupTC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1624;p3_1000G_AF=0.324281;p3_1000G_AFR_AF=0.4251;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=15552;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185463815;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:2,44:46:63:1560,63,0
chr2	184936178	rs12476147	A	T	1092.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=1.814;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.459;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12476147;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|ZNF804A|ZNF804A|transcript|NM_194250.1|protein_coding|4/4|c.782A>T|p.Gln261Leu|1376/4685|782/3630|261/1209||;p3_1000G_AA=T|||;p3_1000G_AC=3101;p3_1000G_AF=0.619209;p3_1000G_AFR_AF=0.438;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=18897;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.6193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185800905;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2109,2297;ESP6500_AA_AGE=600.6+/-389.5;ESP6500_AA_GTC=485,1139,579;ESP6500_CDS_SIZES=NM_194250.1:3630;ESP6500_CG=0.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=94;ESP6500_EA_AC=5404,3194;ESP6500_EA_AGE=481.6+/-370.7;ESP6500_EA_GTC=1690,2024,585;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194250.1:missense;ESP6500_GL=ZNF804A;ESP6500_GRCh38_POSITION=2:184936178;ESP6500_GS=113;ESP6500_GTC=2175,3163,1164;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_194250.1:c.782A>T;ESP6500_HGVS_PROTEIN_VAR=NM_194250.1:p.(Q261L);ESP6500_MAF=37.1482,47.8665,42.2255;ESP6500_PH=benign:0.0;ESP6500_TAC=7513,5491	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1121,0,916
chr2	184937020	rs4667001	G	A	941.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.86;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667001;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|ZNF804A|ZNF804A|transcript|NM_194250.1|protein_coding|4/4|c.1624G>A|p.Glu542Lys|2218/4685|1624/3630|542/1209||;p3_1000G_AA=G|||;p3_1000G_AC=2455;p3_1000G_AF=0.490216;p3_1000G_AFR_AF=0.0582;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=17582;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.5825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185801747;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=603,3711;ESP6500_AA_GTC=51,501,1605;ESP6500_CDS_SIZES=NM_194250.1:3630;ESP6500_CG=3.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=50;ESP6500_EA_AC=4940,3628;ESP6500_EA_GTC=1428,2084,772;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194250.1:missense;ESP6500_GL=ZNF804A;ESP6500_GRCh38_POSITION=2:184937020;ESP6500_GS=56;ESP6500_GTC=1479,2585,2377;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_194250.1:c.1624G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194250.1:p.(E542K);ESP6500_MAF=42.3436,13.9777,43.029;ESP6500_PH=benign:0.012;ESP6500_TAC=5543,7339	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,21:21:66:1|1:184937020_G_A:970,66,0
chr2	184937028	rs4667002	A	G	1015.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.54;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667002;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|ZNF804A|ZNF804A|transcript|NM_194250.1|protein_coding|4/4|c.1632A>G|p.Thr544Thr|2226/4685|1632/3630|544/1209||;p3_1000G_AA=G|||;p3_1000G_AC=3940;p3_1000G_AF=0.786741;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=17559;p3_1000G_EAS_AF=0.8839;p3_1000G_EUR_AF=0.7783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185801755;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3357,969;ESP6500_AA_GTC=1300,757,106;ESP6500_CDS_SIZES=NM_194250.1:3630;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=46;ESP6500_EA_AC=6667,1901;ESP6500_EA_GTC=2688,1291,305;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194250.1:coding-synonymous;ESP6500_GL=ZNF804A;ESP6500_GRCh38_POSITION=2:184937028;ESP6500_GTC=3988,2048,411;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_194250.1:c.1632A>G;ESP6500_HGVS_PROTEIN_VAR=NM_194250.1:p.(T544);ESP6500_MAF=22.1872,22.3994,22.2584;ESP6500_TAC=10024,2870	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:184937020_G_A:1044,75,0
chr2	184937484	rs3046266;rs5836928	C	CACA	4154.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.37;SOR=1.166;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5836928,rs3046266;dbSNPBuildID=130,130;ANN=CACA|disruptive_inframe_insertion|MODERATE|ZNF804A|ZNF804A|transcript|NM_194250.1|protein_coding|4/4|c.2090_2092dupCAA|p.Thr697dup|2687/4685|2093/3630|698/1209||INFO_REALIGN_3_PRIME;p3_1000G_AC=2456;p3_1000G_AF=0.490415;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=20469;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.5825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185802211;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=INDEL;ESP6500_AA_AC=590,3652;ESP6500_AA_GTC=51,488,1582;ESP6500_CDS_SIZES=NM_194250.1:3630;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=70;ESP6500_EA_AC=4757,3473;ESP6500_EA_GTC=1379,1999,737;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194250.1:coding;ESP6500_GL=ZNF804A;ESP6500_GRCh38_POSITION=2:184937484;ESP6500_GTC=1430,2487,2319;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_194250.1:c.2088_2089insACA;ESP6500_HGVS_PROTEIN_VAR=NM_194250.1:p.(N696_T697insT);ESP6500_MAF=42.1993,13.9085,42.872;ESP6500_TAC=5347,7125	GT:AD:DP:GQ:PL	1/1:0,90:90:99:4192,283,0
chr2	184937516	rs1366842	C	A	3267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=99;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.01;SOR=0.842;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1366842;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|ZNF804A|ZNF804A|transcript|NM_194250.1|protein_coding|4/4|c.2120C>A|p.Thr707Lys|2714/4685|2120/3630|707/1209||;p3_1000G_AA=C|||;p3_1000G_AC=2454;p3_1000G_AF=0.490016;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=20026;p3_1000G_EAS_AF=0.8383;p3_1000G_EUR_AF=0.5825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185802243;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5174;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=615,3781;ESP6500_AA_GTC=49,517,1632;ESP6500_CDS_SIZES=NM_194250.1:3630;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=67;ESP6500_EA_AC=4953,3635;ESP6500_EA_GTC=1439,2075,780;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194250.1:missense;ESP6500_GL=ZNF804A;ESP6500_GRCh38_POSITION=2:184937516;ESP6500_GS=78;ESP6500_GTC=1488,2592,2412;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_194250.1:c.2120C>A;ESP6500_HGVS_PROTEIN_VAR=NM_194250.1:p.(T707K);ESP6500_MAF=42.3265,13.99,42.8835;ESP6500_PH=benign:0.002;ESP6500_TAC=5568,7416	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3296,297,0
chr2	184937636	rs12477430	A	G	3443.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=108;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=1.265;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12477430;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|ZNF804A|ZNF804A|transcript|NM_194250.1|protein_coding|4/4|c.2240A>G|p.His747Arg|2834/4685|2240/3630|747/1209||;p3_1000G_AA=G|||;p3_1000G_AC=3527;p3_1000G_AF=0.704273;p3_1000G_AFR_AF=0.6157;p3_1000G_AMR_AF=0.7507;p3_1000G_AN=5008;p3_1000G_DP=19493;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.6889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=185802363;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6391;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2807,1599;ESP6500_AA_AGE=478.8+/-358.3;ESP6500_AA_GTC=878,1051,274;ESP6500_CDS_SIZES=NM_194250.1:3630;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=51;ESP6500_EA_AC=6096,2502;ESP6500_EA_AGE=394.2+/-344.6;ESP6500_EA_GTC=2143,1810,346;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194250.1:missense;ESP6500_GL=ZNF804A;ESP6500_GRCh38_POSITION=2:184937636;ESP6500_GS=29;ESP6500_GTC=3021,2861,620;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_194250.1:c.2240A>G;ESP6500_HGVS_PROTEIN_VAR=NM_194250.1:p.(H747R);ESP6500_MAF=29.0998,36.2914,31.5365;ESP6500_PH=benign:0.0;ESP6500_TAC=8903,4101	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3472,320,0
chr2	185738878	rs35617283;rs397871016	A	AG	583.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.179;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.45;ReadPosRankSum=0.214;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35617283;dbSNPBuildID=137,138;ANN=AG|upstream_gene_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding||c.-17_-16insG|||||16|,AG|upstream_gene_variant|MODIFIER|LOC101927196|LOC101927196|transcript|NR_110215.1|pseudogene||n.-160dupC|||||160|,AG|upstream_gene_variant|MODIFIER|LOC101927196|LOC101927196|transcript|NR_110216.1|pseudogene||n.-160dupC|||||160|,AG|intron_variant|MODIFIER|LOC101927196|LOC101927196|transcript|NR_110214.1|pseudogene|1/3|n.187+28dupC||||||,AG|intron_variant|MODIFIER|LOC101927196|LOC101927196|transcript|NR_110217.1|pseudogene|1/2|n.99+1500dupC||||||;p3_1000G_AA=GGGGGG|GGGGG|GGGGGG|deletion;p3_1000G_AC=1695;p3_1000G_AF=0.338458;p3_1000G_AFR_AF=0.292;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=12864;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186603605;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,22:26:49:621,0,49
chr2	185745617	rs11884004	T	G	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.679;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.55;ReadPosRankSum=0.908;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11884004;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|5/22|c.617+49T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=13951;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186610344;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:92:92,0,276
chr2	185746839	rs6758484	C	A	445.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.76;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.86;ReadPosRankSum=-0.428;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6758484;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|6/22|c.759+29C>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=4784;p3_1000G_AF=0.955272;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=17752;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.9891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186611566;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,15:16:38:474,38,0
chr2	185747211	rs12618129	G	A	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.228;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.728;SOR=2.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12618129;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|6/22|c.760-102G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=19931;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186611938;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,7:15:99:203,0,246
chr2	185747434	rs77069614	C	G	504.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=9.028;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.498;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77069614;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|7/22|c.870+11C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=827;p3_1000G_AF=0.165136;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=17389;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186612161;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,16:34:99:533,0,481
chr2	185760918	rs71411142	TTTGA	T	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71411142,rs10591376;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|9/22|c.1079-66_1079-63delATTG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1633;p3_1000G_AF=0.326078;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=12514;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.3668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186625645;p3_1000G_GRCH37_REF=TTTGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0
chr2	185761043	rs7562137	A	G	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.033;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.187;SOR=0.832;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7562137;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|10/23|c.1134A>G|p.Lys378Lys|1134/20787|1134/20724|378/6907||;p3_1000G_AA=A|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=15581;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186625770;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:136,0,273
chr2	185763216	rs17228441	T	C	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.451;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.764;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17228441;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|12/23|c.1274T>C|p.Ile425Thr|1274/20787|1274/20724|425/6907||;p3_1000G_AA=T|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=17696;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186627943;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,15:31:99:464,0,477
chr2	185764464	rs12998112	T	G	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12998112;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|12/22|c.1348-38T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1632;p3_1000G_AF=0.325879;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=14893;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.3668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186629191;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:99:108,0,128
chr2	185764622	rs1986166	G	A	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.911;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.083;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1986166;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|13/22|c.1411+57G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=16558;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186629349;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:233,0,138
chr2	185789865	rs992822	A	G	458.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.426;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.534;SOR=0.558;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs992822;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.2729A>G|p.Asn910Ser|2729/20787|2729/20724|910/6907||;p3_1000G_AA=G|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18066;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186654592;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,17:31:99:487,0,436
chr2	185790140	rs79762465	G	C	869.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.391;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-0.641;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79762465;dbSNPBuildID=132;ANN=C|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.3004G>C|p.Asp1002His|3004/20787|3004/20724|1002/6907||;p3_1000G_AA=G|||;p3_1000G_AC=849;p3_1000G_AF=0.169529;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=18137;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186654867;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:52,37:89:99:898,0,1498
chr2	185790999	rs10931199	G	A	1319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10931199;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.3863G>A|p.Arg1288Gln|3863/20787|3863/20724|1288/6907||;p3_1000G_AA=A|||;p3_1000G_AC=4791;p3_1000G_AF=0.956669;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=18650;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.9891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186655726;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1348,126,0
chr2	185791930	rs10173807	C	T	948.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.433;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=2.023;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.063;SOR=0.429;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10173807;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.4794C>T|p.Asn1598Asn|4794/20787|4794/20724|1598/6907||;p3_1000G_AA=T|||;p3_1000G_AC=3157;p3_1000G_AF=0.630391;p3_1000G_AFR_AF=0.6868;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=19033;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.6223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186656657;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,37:71:99:977,0,922
chr2	185792229	rs17229201	T	C	628.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=10.406;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.021;SOR=2.187;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17229201;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.5093T>C|p.Met1698Thr|5093/20787|5093/20724|1698/6907||;p3_1000G_AA=t|||;p3_1000G_AC=2704;p3_1000G_AF=0.539936;p3_1000G_AFR_AF=0.5567;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=17476;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186656956;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,26:55:99:657,0,704
chr2	185792362	rs17229222	C	A	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.361;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.192;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=2.56;SOR=0.677;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17229222;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.5226C>A|p.Ser1742Ser|5226/20787|5226/20724|1742/6907||;p3_1000G_AA=A|||;p3_1000G_AC=2705;p3_1000G_AF=0.540136;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=17467;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186657089;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,16:32:99:352,0,505
chr2	185793329	rs60029104	G	A	1026.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.906;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=2.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.877;SOR=0.455;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60029104;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.6193G>A|p.Asp2065Asn|6193/20787|6193/20724|2065/6907||;p3_1000G_AA=G|||;p3_1000G_AC=2695;p3_1000G_AF=0.538139;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4899;p3_1000G_AN=5008;p3_1000G_DP=20550;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.506;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186658056;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:49,40:89:99:1055,0,1283
chr2	185793711	rs10490391	C	T	392.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.878;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.283;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10490391;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.6575C>T|p.Thr2192Met|6575/20787|6575/20724|2192/6907||;p3_1000G_AA=T|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18863;p3_1000G_EAS_AF=0.4712;p3_1000G_EUR_AF=0.508;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186658438;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,18:46:99:421,0,855
chr2	185793838	rs10490392	G	T	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.229;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=1.33;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10490392;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.6702G>T|p.Glu2234Asp|6702/20787|6702/20724|2234/6907||;p3_1000G_AA=G|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=19185;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186658565;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,13:42:99:305,0,863
chr2	185794632	rs2161036	G	T	469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.118;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.25;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2161036;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.7496G>T|p.Arg2499Met|7496/20787|7496/20724|2499/6907||;p3_1000G_AA=T|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18429;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.508;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186659359;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,19:35:99:498,0,500
chr2	185796946	rs55938253	A	G	947.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.76;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-2.238;SOR=0.752;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55938253;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|16/23|c.9810A>G|p.Leu3270Leu|9810/20787|9810/20724|3270/6907||;p3_1000G_AA=A|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=20209;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186661673;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,33:63:99:976,0,721
chr2	185799746	rs11686997	T	C	673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.512;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.846;SOR=0.247;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11686997;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.10440T>C|p.Tyr3480Tyr|10440/20787|10440/20724|3480/6907||;p3_1000G_AA=T|||;p3_1000G_AC=2708;p3_1000G_AF=0.540735;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=14200;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186664473;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,28:49:99:702,0,522
chr2	185800236	rs10931200	C	A	183.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.839;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.615;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10931200;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.10930C>A|p.Leu3644Ile|10930/20787|10930/20724|3644/6907||;p3_1000G_AA=A|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=16694;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186664963;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:212,0,318
chr2	185800705	rs36004074	G	A	1036.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.027;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=3.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.25;SOR=0.393;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36004074;dbSNPBuildID=126;ANN=A|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.11399G>A|p.Gly3800Glu|11399/20787|11399/20724|3800/6907||;p3_1000G_AA=G|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=20343;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186665432;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1065,0,1307
chr2	185801097	rs11695215	A	G	1110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=5.612;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.278;SOR=0.964;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11695215;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.11791A>G|p.Asn3931Asp|11791/20787|11791/20724|3931/6907||;p3_1000G_AA=G|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=19677;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186665824;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1139,0,1109
chr2	185802394	rs7605884	T	C	1443.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.37;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=4.168;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-0.16;SOR=1.039;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7605884;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.13088T>C|p.Phe4363Ser|13088/20787|13088/20724|4363/6907||;p3_1000G_AA=C|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=19568;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186667121;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1472,0,864
chr2	185804208	rs13003744	A	G	686.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.979;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=5.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.709;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13003744;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.14902A>G|p.Met4968Val|14902/20787|14902/20724|4968/6907||;p3_1000G_AA=A|||;p3_1000G_AC=1631;p3_1000G_AF=0.325679;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=16812;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186668935;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,31:63:99:715,0,703
chr2	185805377	rs7576532	A	C	1864.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.3;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7576532;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.16071A>C|p.Glu5357Asp|16071/20787|16071/20724|5357/6907||;p3_1000G_AA=t|||;p3_1000G_AC=4788;p3_1000G_AF=0.95607;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=19183;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186670104;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3444,236;ESP6500_AA_GTC=1611,222,7;ESP6500_CDS_SIZES=NM_173651.2:20991;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=61;ESP6500_EA_AC=8147,17;ESP6500_EA_GTC=4065,17,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173651.2:missense;ESP6500_GL=FSIP2;ESP6500_GRCh38_POSITION=2:185805377;ESP6500_GS=45;ESP6500_GTC=5676,239,7;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_173651.2:c.16338A>C;ESP6500_HGVS_PROTEIN_VAR=NM_173651.2:p.(E5446D);ESP6500_MAF=0.2082,6.413,2.1361;ESP6500_TAC=11591,253	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1893,168,0
chr2	185806053	rs16827154	T	A	446.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.3;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.581;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.086;SOR=1.019;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16827154;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.16747T>A|p.Tyr5583Asn|16747/20787|16747/20724|5583/6907||;p3_1000G_AA=T|||;p3_1000G_AC=2526;p3_1000G_AF=0.504393;p3_1000G_AFR_AF=0.4365;p3_1000G_AMR_AF=0.4755;p3_1000G_AN=5008;p3_1000G_DP=18268;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.508;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186670780;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1687,1893;ESP6500_AA_GTC=402,883,505;ESP6500_CDS_SIZES=NM_173651.2:20991;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=65;ESP6500_EA_AC=4305,3805;ESP6500_EA_GTC=1153,1999,903;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173651.2:missense;ESP6500_GL=FSIP2;ESP6500_GRCh38_POSITION=2:185806053;ESP6500_GS=143;ESP6500_GTC=1555,2882,1408;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_173651.2:c.17014T>A;ESP6500_HGVS_PROTEIN_VAR=NM_173651.2:p.(Y5672N);ESP6500_MAF=46.9174,47.1229,48.7425;ESP6500_TAC=5992,5698	GT:AD:DP:GQ:PL	0/1:29,17:46:99:475,0,565
chr2	185806252	rs4666689	T	C	1627.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=0.9;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4666689;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.16946T>C|p.Ile5649Thr|16946/20787|16946/20724|5649/6907||;p3_1000G_AA=C|||;p3_1000G_AC=4336;p3_1000G_AF=0.865815;p3_1000G_AFR_AF=0.8033;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=16816;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186670979;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2976,702;ESP6500_AA_GTC=1209,558,72;ESP6500_CDS_SIZES=NM_173651.2:20991;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=42;ESP6500_EA_AC=7237,921;ESP6500_EA_GTC=3198,841,40;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173651.2:missense;ESP6500_GL=FSIP2;ESP6500_GRCh38_POSITION=2:185806252;ESP6500_GS=89;ESP6500_GTC=4407,1399,112;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173651.2:c.17213T>C;ESP6500_HGVS_PROTEIN_VAR=NM_173651.2:p.(I5738T);ESP6500_MAF=11.2895,19.0865,13.7124;ESP6500_TAC=10213,1623	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1656,153,0
chr2	185806630	rs17826534	G	A	731.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.481;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.8;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.41;SOR=1.542;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17826534;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.17324G>A|p.Arg5775Gln|17324/20787|17324/20724|5775/6907||;p3_1000G_AA=G|||;p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18055;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186671357;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2031,1573;ESP6500_AA_GTC=567,897,338;ESP6500_CDS_SIZES=NM_173651.2:20991;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=71;ESP6500_EA_AC=4338,3802;ESP6500_EA_GTC=1152,2034,884;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173651.2:missense;ESP6500_GL=FSIP2;ESP6500_GRCh38_POSITION=2:185806630;ESP6500_GS=43;ESP6500_GTC=1719,2931,1222;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173651.2:c.17591G>A;ESP6500_HGVS_PROTEIN_VAR=NM_173651.2:p.(R5864Q);ESP6500_MAF=46.7076,43.6459,45.7681;ESP6500_TAC=6369,5375	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,27:49:99:0|1:185806618_C_A:760,0,577
chr2	185807185	rs1862066	G	A	765.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.071;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=3.186;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.638;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1862066;dbSNPBuildID=92;ANN=A|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.17879G>A|p.Arg5960His|17879/20787|17879/20724|5960/6907||;p3_1000G_AA=A|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=18277;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186671912;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2085,1589;ESP6500_AA_GTC=587,911,339;ESP6500_CDS_SIZES=NM_173651.2:20991;ESP6500_CG=3.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=133;ESP6500_EA_AC=4350,3806;ESP6500_EA_GTC=1155,2040,883;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173651.2:missense;ESP6500_GL=FSIP2;ESP6500_GRCh38_POSITION=2:185807185;ESP6500_GS=29;ESP6500_GTC=1742,2951,1222;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173651.2:c.18146G>A;ESP6500_HGVS_PROTEIN_VAR=NM_173651.2:p.(R6049H);ESP6500_MAF=46.665,43.2499,45.6044;ESP6500_TAC=6435,5395	GT:AD:DP:GQ:PL	0/1:38,33:71:99:794,0,1057
chr2	185808170	rs4666690	A	G	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=-0.197;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4666690;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/23|c.18864A>G|p.Leu6288Leu|18864/20787|18864/20724|6288/6907||;p3_1000G_AA=A|||;p3_1000G_AC=1637;p3_1000G_AF=0.326877;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=17961;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.3658;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186672897;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=874,2742;ESP6500_AA_GTC=97,680,1031;ESP6500_CDS_SIZES=NM_173651.2:20991;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=44;ESP6500_EA_AC=2881,5255;ESP6500_EA_GTC=502,1877,1689;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173651.2:coding-synonymous;ESP6500_GL=FSIP2;ESP6500_GRCh38_POSITION=2:185808170;ESP6500_GTC=599,2557,2720;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173651.2:c.19131A>G;ESP6500_HGVS_PROTEIN_VAR=NM_173651.2:p.(L6377);ESP6500_MAF=35.4105,24.1704,31.952;ESP6500_TAC=3755,7997	GT:AD:DP:GQ:PL	0/1:25,12:37:99:319,0,738
chr2	185813514	rs34138386;rs397872129;~rs34138386	A	AT	95.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.221;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.7;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34138386;dbSNPBuildID=137,138;ANN=AT|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|17/22|c.19828-27dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTT|TTTT|TTTTT|insertion;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=14903;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186678241;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=INDEL;ESP6500_AA_AC=1925,1537;ESP6500_AA_GTC=536,853,342;ESP6500_CDS_SIZES=NM_173651.2:20991;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=22;ESP6500_EA_AC=4112,3642;ESP6500_EA_GTC=1107,1898,872;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173651.2:intron;ESP6500_GL=FSIP2;ESP6500_GRCh38_POSITION=2:185813514;ESP6500_GTC=1643,2751,1214;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_173651.2:c.20095-31_20095-30insT;ESP6500_MAF=46.9693,44.3963,46.1751;ESP6500_TAC=6037,5179	GT:AD:DP:GQ:PL	0/1:5,5:10:99:133,0,133
chr2	185815314	rs2287606	G	T	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.501;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.547;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.665;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287606;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|18/22|c.20326-57G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2707;p3_1000G_AF=0.540535;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=16340;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.5099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186680041;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,16:35:99:415,0,559
chr2	185833149	rs1468999	A	G	848.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1468999;dbSNPBuildID=88;ANN=G|missense_variant|MODERATE|FSIP2|FSIP2|transcript|NM_173651.3|protein_coding|23/23|c.20647A>G|p.Thr6883Ala|20647/20787|20647/20724|6883/6907||;p3_1000G_AA=G|||;p3_1000G_AC=4793;p3_1000G_AF=0.957069;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=18373;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.9891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=186697876;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3482,228;ESP6500_AA_GTC=1634,214,7;ESP6500_CDS_SIZES=NM_173651.2:20991;ESP6500_CG=3.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=81;ESP6500_EA_AC=8189,17;ESP6500_EA_GTC=4086,17,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173651.2:missense;ESP6500_GL=FSIP2;ESP6500_GRCh38_POSITION=2:185833149;ESP6500_GS=58;ESP6500_GTC=5720,231,7;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173651.2:c.20914A>G;ESP6500_HGVS_PROTEIN_VAR=NM_173651.2:p.(T6972A);ESP6500_MAF=0.2072,6.1456,2.0561;ESP6500_TAC=11671,245	GT:AD:DP:GQ:PL	1/1:0,26:26:78:877,78,0
chr2	186500084	rs4144786	G	A	29.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.95;ReadPosRankSum=-0.674;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4144786;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|ZC3H15|ZC3H15|transcript|NM_018471.2|protein_coding|2/9|c.178-98G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3029;p3_1000G_AF=0.604832;p3_1000G_AFR_AF=0.6112;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=19792;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.6988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187364811;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:58:58,0,78
chr2	186500151	rs4144785	A	G	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.086;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=-0.325;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4144785;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|ZC3H15|ZC3H15|transcript|NM_018471.2|protein_coding|2/9|c.178-31A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1635;p3_1000G_AF=0.326478;p3_1000G_AFR_AF=0.1914;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=17928;p3_1000G_EAS_AF=0.4236;p3_1000G_EUR_AF=0.3777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187364878;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=747,2855;ESP6500_AA_GTC=71,605,1125;ESP6500_CDS_SIZES=NM_018471.2:1281;ESP6500_CG=4.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=43;ESP6500_EA_AC=2899,5239;ESP6500_EA_GTC=514,1871,1684;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018471.2:intron;ESP6500_GL=ZC3H15;ESP6500_GRCh38_POSITION=2:186500151;ESP6500_GTC=585,2476,2809;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018471.2:c.178-31A>G;ESP6500_MAF=35.623,20.7385,31.0562;ESP6500_TAC=3646,8094	GT:AD:DP:GQ:PL	0/1:9,3:12:56:56,0,271
chr2	186504286	rs11402438;rs397801276	T	TG	321.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.25;SOR=3.442;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11402438;dbSNPBuildID=135,138;ANN=TG|intron_variant|MODIFIER|ZC3H15|ZC3H15|transcript|NM_018471.2|protein_coding|6/9|c.717+76dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGG|GGGG|GGGGG|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17913;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187369013;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:359,33,0
chr2	186590551	rs9333287	C	T	545.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9333287;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|1/29|c.185+28C>T||||||,T|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|1/27|c.185+28C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3536;p3_1000G_AF=0.70607;p3_1000G_AFR_AF=0.562;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=11945;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.7346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187455278;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2679,1683;ESP6500_AA_GTC=819,1041,321;ESP6500_CDS_SIZES=NM_002210.3:3147,NM_001145000.1:3039;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=18;ESP6500_EA_AC=6470,2108;ESP6500_EA_GTC=2445,1580,264;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002210.3:intron,NM_001145000.1:intron;ESP6500_GL=ITGAV;ESP6500_GRCh38_POSITION=2:186590551;ESP6500_GTC=3264,2621,585;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002210.3:c.185+28C>T,NM_001145000.1:c.185+28C>T;ESP6500_MAF=24.5745,38.5832,29.2968;ESP6500_TAC=9149,3791	GT:AD:DP:GQ:PL	1/1:0,18:18:54:574,54,0
chr2	186622433	rs9333288	G	A	735.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.3;SOR=0.846;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9333288;dbSNPBuildID=119;ANN=A|splice_region_variant&intron_variant|LOW|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|3/29|c.408+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|3/27|c.408+3G>A||||||,A|splice_region_variant&intron_variant|LOW|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|3/29|c.270+3G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3819;p3_1000G_AF=0.76258;p3_1000G_AFR_AF=0.767;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=18036;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.7346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187487160;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7239;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3446,960;ESP6500_AA_AGE=359.4+/-314.8;ESP6500_AA_GTC=1345,756,102;ESP6500_CDS_SIZES=NM_002210.3:3147,NM_001145000.1:3039,NM_001144999.1:3009;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=105;ESP6500_EA_AC=6406,2194;ESP6500_EA_AGE=374.6+/-337.4;ESP6500_EA_GTC=2387,1632,281;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002210.3:intron,NM_001145000.1:intron,NM_001144999.1:intron;ESP6500_GL=ITGAV;ESP6500_GRCh38_POSITION=2:186622433;ESP6500_GTC=3732,2388,383;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002210.3:c.408+3G>A,NM_001145000.1:c.408+3G>A,NM_001144999.1:c.270+3G>A;ESP6500_MAF=25.5116,21.7885,24.2503;ESP6500_TAC=9852,3154	GT:AD:DP:GQ:PL	1/1:0,26:26:78:764,78,0
chr2	186625644	rs2197787	T	G	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.21;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2197787;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|4/29|c.523+57T>G||||||,G|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|4/27|c.523+57T>G||||||,G|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|4/29|c.385+57T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3522;p3_1000G_AF=0.703275;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=15877;p3_1000G_EAS_AF=0.8413;p3_1000G_EUR_AF=0.7346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187490371;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:465,33,0
chr2	186625662	rs5836987;rs376743968	G	T	377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28633327;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|4/29|c.523+75G>T||||||,T|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|4/27|c.523+75G>T||||||,T|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|4/29|c.385+75G>T||||||;p3_1000G_AC=854;p3_1000G_AF=0.170527;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=17516;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187490389;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:27:405,27,0
chr2	186625678	rs5836988	T	TGTGTGTGTGA	149.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5836988;dbSNPBuildID=137;ANN=TGTGTGTGTGA|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|4/29|c.523+92_523+93insTGTGTGTGAG||||||INFO_REALIGN_3_PRIME,TGTGTGTGTGA|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|4/27|c.523+92_523+93insTGTGTGTGAG||||||INFO_REALIGN_3_PRIME,TGTGTGTGTGA|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|4/29|c.385+92_385+93insTGTGTGTGAG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,4:4:15:187,15,0
chr2	186636955	rs56136540	G	A	446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.37;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56136540;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|7/29|c.758-110G>A||||||,A|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|5/27|c.650-110G>A||||||,A|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|7/29|c.620-110G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3450;p3_1000G_AF=0.688898;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=15662;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.5984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187501682;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:475,39,0
chr2	186638499	rs4667108	T	C	352.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.02;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4667108;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|10/29|c.903+34T>C||||||,C|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|8/27|c.795+34T>C||||||,C|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|10/29|c.765+34T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2488;p3_1000G_AF=0.496805;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=15569;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.4056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187503226;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2047,2351;ESP6500_AA_AGE=519.0+/-369.9;ESP6500_AA_GTC=494,1059,646;ESP6500_CDS_SIZES=NM_002210.3:3147,NM_001145000.1:3039,NM_001144999.1:3009;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=57;ESP6500_EA_AC=3227,5365;ESP6500_EA_AGE=470.7+/-367.9;ESP6500_EA_GTC=601,2025,1670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002210.3:intron,NM_001145000.1:intron,NM_001144999.1:intron;ESP6500_GL=ITGAV;ESP6500_GRCh38_POSITION=2:186638499;ESP6500_GTC=1095,3084,2316;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002210.3:c.903+34T>C,NM_001145000.1:c.795+34T>C,NM_001144999.1:c.765+34T>C;ESP6500_MAF=37.5582,46.5439,40.6005;ESP6500_TAC=5274,7716	GT:AD:DP:GQ:PL	1/1:0,10:10:30:381,30,0
chr2	186640759	rs3816375	A	G	95.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816375;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|10/29|c.904-156A>G||||||,G|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|8/27|c.796-156A>G||||||,G|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|10/29|c.766-156A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2422;p3_1000G_AF=0.483626;p3_1000G_AFR_AF=0.4425;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=19024;p3_1000G_EAS_AF=0.7431;p3_1000G_EUR_AF=0.4056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187505486;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:123,12,0
chr2	186665096	rs35994921;rs562839589;rs764392161;rs796926849	AT	A	392.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.659;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=0.548;SOR=0.622;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35994921;dbSNPBuildID=126,144,142,146;ANN=A|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|20/29|c.2074-13delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|18/27|c.1966-13delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|20/29|c.1936-13delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,15:16:35:380,35,0
chr2	186667283	rs41265951	G	T	867.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.93;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41265951;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|23/29|c.2327+53G>T||||||,T|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|21/27|c.2219+53G>T||||||,T|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|23/29|c.2189+53G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1925;p3_1000G_AF=0.384385;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=15605;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187532010;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=300,1084;ESP6500_AA_GTC=37,226,429;ESP6500_CDS_SIZES=NM_002210.3:3147,NM_001145000.1:3039,NM_001144999.1:3009;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=191;ESP6500_EA_AC=1172,2010;ESP6500_EA_GTC=220,732,639;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002210.3:intron,NM_001145000.1:intron,NM_001144999.1:intron;ESP6500_GL=ITGAV;ESP6500_GRCh38_POSITION=2:186667283;ESP6500_GTC=257,958,1068;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002210.3:c.2327+53G>T,NM_001145000.1:c.2219+53G>T,NM_001144999.1:c.2189+53G>T;ESP6500_MAF=36.8322,21.6763,32.2383;ESP6500_TAC=1472,3094	GT:AD:DP:GQ:PL	1/1:0,30:30:90:896,90,0
chr2	186667690	rs2230616	G	A	698.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.95;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2230616;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|24/30|c.2347G>A|p.Val783Ile|2623/7033|2347/3147|783/1048||,A|missense_variant|MODERATE|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|22/28|c.2239G>A|p.Val747Ile|2515/6925|2239/3039|747/1012||,A|missense_variant|MODERATE|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|24/30|c.2209G>A|p.Val737Ile|2339/6749|2209/3009|737/1002||;p3_1000G_AA=A|||;p3_1000G_AC=4969;p3_1000G_AF=0.992212;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=12644;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187532417;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4289,117;ESP6500_AA_AGE=89.7+/-128.4;ESP6500_AA_GTC=2086,117,0;ESP6500_CDS_SIZES=NM_002210.3:3147,NM_001145000.1:3039,NM_001144999.1:3009;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=138;ESP6500_EA_AC=8598,2;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002210.3:missense,NM_001145000.1:missense,NM_001144999.1:missense;ESP6500_GL=ITGAV;ESP6500_GRCh38_POSITION=2:186667690;ESP6500_GS=29,29,29;ESP6500_GTC=6384,119,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002210.3:c.2347G>A,NM_001145000.1:c.2239G>A,NM_001144999.1:c.2209G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002210.3:p.(V783I),NM_001145000.1:p.(V747I),NM_001144999.1:p.(V737I);ESP6500_MAF=0.0233,2.6555,0.915;ESP6500_PH=benign:0.007,benign:0.007,benign:0.007;ESP6500_TAC=12887,119	GT:AD:DP:GQ:PL	1/1:0,25:25:75:727,75,0
chr2	186669014	rs2290083	T	C	512.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290083;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_002210.4|protein_coding|25/29|c.2592+94T>C||||||,C|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001145000.2|protein_coding|23/27|c.2484+94T>C||||||,C|intron_variant|MODIFIER|ITGAV|ITGAV|transcript|NM_001144999.2|protein_coding|25/29|c.2454+94T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2065;p3_1000G_AF=0.41234;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=19402;p3_1000G_EAS_AF=0.7183;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187533741;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:47:541,47,0
chr2	186694233	rs2276562	G	A	1570.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=0.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276562;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|FAM171B|FAM171B|transcript|NM_177454.3|protein_coding|1/8|c.60G>A|p.Leu20Leu|172/3555|60/2481|20/826||;p3_1000G_AA=G|||;p3_1000G_AC=1446;p3_1000G_AF=0.288738;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=12251;p3_1000G_EAS_AF=0.7153;p3_1000G_EUR_AF=0.2624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187558960;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=333,3951;ESP6500_AA_GTC=10,313,1819;ESP6500_CDS_SIZES=NM_177454.3:2481;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=13;ESP6500_EA_AC=1773,6647;ESP6500_EA_GTC=180,1413,2617;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_177454.3:coding-synonymous;ESP6500_GL=FAM171B;ESP6500_GRCh38_POSITION=2:186694233;ESP6500_GTC=190,1726,4436;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_177454.3:c.60G>A;ESP6500_HGVS_PROTEIN_VAR=NM_177454.3:p.(L20);ESP6500_MAF=21.057,7.7731,16.5775;ESP6500_TAC=2106,10598	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1599,162,0
chr2	186694320	rs144403657;rs71017336	G	GCAA	1476.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=0.749;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs144403657,rs71017336;dbSNPBuildID=134,130;ANN=GCAA|disruptive_inframe_insertion|MODERATE|FAM171B|FAM171B|transcript|NM_177454.3|protein_coding|1/8|c.162_164dupACA|p.Gln55dup|277/3555|165/2481|55/826||INFO_REALIGN_3_PRIME;p3_1000G_AC=2602;p3_1000G_AF=0.519569;p3_1000G_AFR_AF=0.5106;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=14904;p3_1000G_EAS_AF=0.7183;p3_1000G_EUR_AF=0.4404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187559047;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1514,105,0
chr2	186747021	rs2247924	G	A	502.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.31;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2247924;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|FAM171B|FAM171B|transcript|NM_177454.3|protein_coding|3/7|c.566-71G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4665;p3_1000G_AF=0.93151;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.8646;p3_1000G_AN=5008;p3_1000G_DP=18796;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.992;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187611748;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:531,39,0
chr2	186833310	rs7609183	G	A	340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.08;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7609183;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ZSWIM2|ZSWIM2|transcript|NM_182521.2|protein_coding|6/8|c.829-78C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=13717;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187698037;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:369,30,0
chr2	186833905	rs77894289	C	A	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.135;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.86;ReadPosRankSum=-0.514;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77894289;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ZSWIM2|ZSWIM2|transcript|NM_182521.2|protein_coding|6/8|c.828+41G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18092;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187698632;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_182521.2:1902;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=72;ESP6500_EA_AC=7,8593;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=0,7,4293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182521.2:intron;ESP6500_GL=ZSWIM2;ESP6500_GRCh38_POSITION=2:186833905;ESP6500_GTC=0,7,6496;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_182521.2:c.828+41G>T;ESP6500_MAF=0.0814,0.0,0.0538;ESP6500_TAC=7,12999	GT:AD:DP:GQ:PL	0/1:26,11:37:99:245,0,704
chr2	186848669	rs3100021	C	A	112.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.01;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3100021;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|ZSWIM2|ZSWIM2|transcript|NM_182521.2|protein_coding|1/8|c.165+297G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3512;p3_1000G_AF=0.701278;p3_1000G_AFR_AF=0.5651;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=16305;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187713396;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:140,12,0
chr2	186848685	rs3114951	C	T	231.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3114951;dbSNPBuildID=103;ANN=T|intron_variant|MODIFIER|ZSWIM2|ZSWIM2|transcript|NM_182521.2|protein_coding|1/8|c.165+281G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3512;p3_1000G_AF=0.701278;p3_1000G_AFR_AF=0.5651;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=16431;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.6998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=187713412;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:260,21,0
chr2	187352056	rs858744	C	T	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.214;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.423;SOR=0.216;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs858744;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_001271751.1|protein_coding|12/13|c.1128+58G>A||||||,T|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_005795.5|protein_coding|13/14|c.1128+58G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1450;p3_1000G_AF=0.289537;p3_1000G_AFR_AF=0.3464;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=16750;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=188216783;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,12:24:99:301,0,404
chr2	187352080	rs858745	T	C	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.428;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.374;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=1.15;SOR=0.159;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs858745;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_001271751.1|protein_coding|12/13|c.1128+34A>G||||||,C|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_005795.5|protein_coding|13/14|c.1128+34A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4140;p3_1000G_AF=0.826677;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=16817;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.8648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=188216807;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3974,432;ESP6500_AA_AGE=781.9+/-414.5;ESP6500_AA_GTC=1795,384,24;ESP6500_CDS_SIZES=NM_005795.4:1386;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=58;ESP6500_EA_AC=7489,1109;ESP6500_EA_AGE=764.7+/-407.6;ESP6500_EA_GTC=3260,969,70;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005795.4:intron;ESP6500_GL=CALCRL;ESP6500_GRCh38_POSITION=2:187352080;ESP6500_GTC=5055,1353,94;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005795.4:c.1128+34A>G;ESP6500_MAF=12.8983,9.8048,11.8502;ESP6500_TAC=11463,1541	GT:AD:DP:GQ:PL	0/1:14,12:26:99:268,0,447
chr2	187359330	rs1706287	A	G	100.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.386;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.3;ReadPosRankSum=1.35;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1706287;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_001271751.1|protein_coding|9/13|c.782-58T>C||||||,G|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_005795.5|protein_coding|10/14|c.782-58T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4148;p3_1000G_AF=0.828275;p3_1000G_AFR_AF=0.9123;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=14791;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.8648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=188224057;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:129,0,198
chr2	187378893	rs3771085	A	G	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.614;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.81;ReadPosRankSum=0.349;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771085;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_001271751.1|protein_coding|7/13|c.500+47T>C||||||,G|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_005795.5|protein_coding|8/14|c.500+47T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=375;p3_1000G_AF=0.0748802;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=15350;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.0338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=188243620;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=115,4257;ESP6500_AA_GTC=2,111,2073;ESP6500_CDS_SIZES=NM_005795.4:1386;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=29;ESP6500_EA_AC=218,8358;ESP6500_EA_GTC=1,216,4071;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005795.4:intron;ESP6500_GL=CALCRL;ESP6500_GRCh38_POSITION=2:187378893;ESP6500_GTC=3,327,6144;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005795.4:c.500+47T>C;ESP6500_MAF=2.542,2.6304,2.5718;ESP6500_TAC=333,12615	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,7:12:99:0|1:187378893_A_G:290,0,231
chr2	187378906	rs3771084	A	G	300.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.922;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=0.19;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771084;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_001271751.1|protein_coding|7/13|c.500+34T>C||||||,G|intron_variant|MODIFIER|CALCRL|CALCRL|transcript|NM_005795.5|protein_coding|8/14|c.500+34T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2740;p3_1000G_AF=0.547125;p3_1000G_AFR_AF=0.3699;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=15021;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=188243633;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1812,2574;ESP6500_AA_GTC=387,1038,768;ESP6500_CDS_SIZES=NM_005795.4:1386;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=36;ESP6500_EA_AC=4835,3749;ESP6500_EA_GTC=1358,2119,815;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005795.4:intron;ESP6500_GL=CALCRL;ESP6500_GRCh38_POSITION=2:187378906;ESP6500_GTC=1745,3157,1583;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005795.4:c.500+34T>C;ESP6500_MAF=43.6743,41.3133,48.751;ESP6500_TAC=6647,6323	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,9:14:99:0|1:187378893_A_G:329,0,228
chr2	187467965	rs8176592	A	G	372.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.7;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=6.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.033;SOR=0.045;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs8176592;dbSNPBuildID=117;ANN=G|intron_variant|MODIFIER|TFPI|TFPI|transcript|NM_001329239.1|protein_coding|8/9|c.629-33T>C||||||,G|intron_variant|MODIFIER|TFPI|TFPI|transcript|NM_001329240.1|protein_coding|7/8|c.629-33T>C||||||,G|intron_variant|MODIFIER|TFPI|TFPI|transcript|NM_001329241.1|protein_coding|7/8|c.629-33T>C||||||,G|intron_variant|MODIFIER|TFPI|TFPI|transcript|NM_006287.5|protein_coding|6/7|c.629-33T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.444;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=16724;p3_1000G_EAS_AF=0.1448;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=188332692;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1726,2680;ESP6500_AA_AGE=509.3+/-367.2;ESP6500_AA_GTC=330,1066,807;ESP6500_CDS_SIZES=NM_006287.4:915;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_117;ESP6500_DP=43;ESP6500_EA_AC=2674,5924;ESP6500_EA_AGE=424.6+/-354.7;ESP6500_EA_GTC=402,1870,2027;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006287.4:intron;ESP6500_GL=TFPI;ESP6500_GRCh38_POSITION=2:187467965;ESP6500_GTC=732,2936,2834;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006287.4:c.629-33T>C;ESP6500_MAF=31.1003,39.1739,33.8357;ESP6500_TAC=4400,8604	GT:AD:DP:GQ:PL	0/1:13,14:27:99:401,0,408
chr2	187478770	rs7586970	T	C	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.225;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=6.816;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.17;SOR=0.342;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7586970;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|TFPI|TFPI|transcript|NM_001032281.3|protein_coding|7/7|c.662A>G|p.Asn221Ser|970/1161|662/756|221/251||,C|missense_variant|MODERATE|TFPI|TFPI|transcript|NM_001318941.2|protein_coding|8/8|c.662A>G|p.Asn221Ser|1001/1192|662/756|221/251||,C|intron_variant|MODIFIER|TFPI|TFPI|transcript|NM_001329239.1|protein_coding|8/9|c.628+5354A>G||||||,C|intron_variant|MODIFIER|TFPI|TFPI|transcript|NM_001329240.1|protein_coding|7/8|c.628+5354A>G||||||,C|intron_variant|MODIFIER|TFPI|TFPI|transcript|NM_001329241.1|protein_coding|7/8|c.628+5354A>G||||||,C|intron_variant|MODIFIER|TFPI|TFPI|transcript|NM_006287.5|protein_coding|6/7|c.628+5354A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1411;p3_1000G_AF=0.281749;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=19517;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.3002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=188343497;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1528,2878;ESP6500_AA_AGE=482.4+/-359.4;ESP6500_AA_GTC=243,1042,918;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21378988;ESP6500_CDS_SIZES=NM_006287.4:915,NM_001032281.2:756;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=145;ESP6500_EA_AC=2670,5930;ESP6500_EA_AGE=429.7+/-356.3;ESP6500_EA_GTC=403,1864,2033;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006287.4:intron,NM_001032281.2:missense;ESP6500_GL=TFPI;ESP6500_GRCh38_POSITION=2:187478770;ESP6500_GS=.,46;ESP6500_GTC=646,2906,2951;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21378988;ESP6500_HGVS_CDNA_VAR=NM_006287.4:c.628+5354A>G,NM_001032281.2:c.662A>G;ESP6500_HGVS_PROTEIN_VAR=.,NM_001032281.2:p.(N221S);ESP6500_MAF=31.0465,34.68,32.2774;ESP6500_PH=.,benign:0.194;ESP6500_TAC=4198,8808	GT:AD:DP:GQ:PL	0/1:20,21:41:99:519,0,487
chr2	188584169	rs2048138	A	T	828.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=3.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2048138;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|GULP1|GULP1|transcript|NM_016315.3|protein_coding|9/11|c.610-96A>T||||||,T|intron_variant|MODIFIER|GULP1|GULP1|transcript|NM_001252668.1|protein_coding|9/12|c.610-96A>T||||||,T|intron_variant|MODIFIER|GULP1|GULP1|transcript|NM_001252669.1|protein_coding|6/8|c.301-96A>T||||||,T|intron_variant|MODIFIER|GULP1|GULP1|transcript|NR_045562.1|pseudogene|9/11|n.1231-96A>T||||||,T|intron_variant|MODIFIER|GULP1|GULP1|transcript|NR_045563.1|pseudogene|10/12|n.1493-96A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4983;p3_1000G_AF=0.995008;p3_1000G_AFR_AF=0.9834;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16755;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189448896;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:857,75,0
chr2	188985047	rs3106796	A	G	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.75;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.074;SOR=1.091;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3106796;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|2/50|c.282+85A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1857;p3_1000G_AF=0.370807;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=20202;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.4215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189849773;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:360,0,301
chr2	188990948	rs2203601	T	A	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.24;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.56;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2203601;dbSNPBuildID=96;ANN=A|upstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.-4682T>A|||||4682|,A|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|10/50|c.799-56T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1854;p3_1000G_AF=0.370208;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=15734;p3_1000G_EAS_AF=0.6091;p3_1000G_EUR_AF=0.4215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189855674;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=156,1228;ESP6500_AA_GTC=15,126,551;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=33;ESP6500_EA_AC=1304,1876;ESP6500_EA_GTC=292,720,578;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000090.3:intron;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:188990948;ESP6500_GTC=307,846,1129;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.799-56T>A;ESP6500_MAF=41.0063,11.2717,31.9895;ESP6500_TAC=1460,3104	GT:AD:DP:GQ:PL	0/1:5,4:9:99:106,0,110
chr2	188993267	rs12693525	T	C	1148.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.02;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0.842;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.639;SOR=0.834;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12693525;dbSNPBuildID=121;ANN=C|upstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.-2363T>C|||||2363|,C|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|15/50|c.1051-94T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2027;p3_1000G_AF=0.404752;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.3069;p3_1000G_AN=5008;p3_1000G_DP=20906;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.2903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189857993;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3691;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1177,0,1047
chr2	188994347	rs2271679;35961	T	A	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.548;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.078;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271679;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.-1283T>A|||||1283|,A|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|18/50|c.1293+15T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=814;p3_1000G_AF=0.16254;p3_1000G_AFR_AF=0.4607;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=16751;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189859073;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1631,2773;ESP6500_AA_AGE=498.8+/-364.2;ESP6500_AA_GTC=296,1039,867;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...100500837&amp%3Brs...2271679;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=69;ESP6500_EA_AC=199,8401;ESP6500_EA_AGE=86.1+/-148.5;ESP6500_EA_GTC=0,199,4101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000090.3:intron;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:188994347;ESP6500_GTC=296,1238,4968;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.1293+15T>A;ESP6500_MAF=2.314,37.0345,14.0726;ESP6500_TAC=1830,11174;CLINVAR_AF_ESP=0.1407;CLINVAR_AF_EXAC=0.06452;CLINVAR_AF_TGP=0.1625;CLINVAR_ALLELEID=44625;CLINVAR_CLNDISDB=MedGen:C0268338,OMIM:130050,Orphanet:ORPHA286,SNOMED_CT:17025000|MedGen:CN078214|MedGen:CN169374;CLINVAR_CLNDN=Ehlers-Danlos_syndrome,_type_4|Familial_aortopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.188994347T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27395;CLINVAR_GENEINFO=COL3A1:1281;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2271679	GT:AD:DP:GQ:PL	0/1:21,24:45:99:644,0,573
chr2	188995904	rs13306267	A	C	670.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.126;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.482;SOR=1.009;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306267;dbSNPBuildID=121;ANN=C|downstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.*212A>C|||||212|,C|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|22/50|c.1608+114A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=781;p3_1000G_AF=0.15595;p3_1000G_AFR_AF=0.4365;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=16567;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189860630;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,26:50:99:699,0,582
chr2	188995931	rs13306268	A	G	720.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.64;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.306;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.716;SOR=1.15;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306268;dbSNPBuildID=121;ANN=G|downstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.*239A>G|||||239|,G|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|22/50|c.1608+141A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=656;p3_1000G_AF=0.13099;p3_1000G_AFR_AF=0.3464;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=16127;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189860657;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,23:43:99:749,0,518
chr2	188996066	rs13306269	T	C	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.097;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306269;dbSNPBuildID=121;ANN=C|downstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.*374T>C|||||374|,C|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|22/50|c.1609-59T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=781;p3_1000G_AF=0.15595;p3_1000G_AFR_AF=0.4365;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=14294;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189860792;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=486,898;ESP6500_AA_GTC=81,324,287;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=25;ESP6500_EA_AC=71,3111;ESP6500_EA_GTC=0,71,1520;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000090.3:intron;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:188996066;ESP6500_GTC=81,395,1807;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.1609-59T>C;ESP6500_MAF=2.2313,35.1156,12.1989;ESP6500_TAC=557,4009	GT:AD:DP:GQ:PL	0/1:16,12:28:99:327,0,407
chr2	188996305	rs141685938	T	TAC	98.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141685938;dbSNPBuildID=134;ANN=TAC|downstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.*613_*614insAC|||||614|,TAC|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|23/50|c.1663-71_1663-70dupCA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:12:135,12,0
chr2	188997236	rs28413125;136846	A	G	1378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.527;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=4.895;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.168;SOR=0.829;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28413125;dbSNPBuildID=125;ANN=G|downstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.*1544A>G|||||1544|,G|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|25/50|c.1815+18A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=557;p3_1000G_AF=0.111222;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=16431;p3_1000G_EAS_AF=0.0863;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189861962;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1050,3356;ESP6500_AA_AGE=385.4+/-325.7;ESP6500_AA_GTC=127,796,1280;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=146;ESP6500_EA_AC=17,8583;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=0,17,4283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000090.3:intron;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:188997236;ESP6500_GTC=127,813,5563;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.1815+18A>G;ESP6500_MAF=0.1977,23.8311,8.2039;ESP6500_TAC=1067,11939;CLINVAR_AF_ESP=0.0820;CLINVAR_AF_EXAC=0.03608;CLINVAR_AF_TGP=0.1112;CLINVAR_ALLELEID=140549;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.188997236A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL3A1:1281;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28413125	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1407,0,1013
chr2	188997477	rs3134654	C	T	167.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3134654;dbSNPBuildID=103;ANN=T|downstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.*1785C>T|||||1785|,T|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|26/50|c.1869+88C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4956;p3_1000G_AF=0.989617;p3_1000G_AFR_AF=0.9629;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20106;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189862203;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:196,18,0
chr2	188997626	rs2271680	G	A	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.965;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.875;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271680;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.*1934G>A|||||1934|,A|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|26/50|c.1870-74G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=777;p3_1000G_AF=0.155152;p3_1000G_AFR_AF=0.4357;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=17632;p3_1000G_EAS_AF=0.0923;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189862352;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=486,898;ESP6500_AA_GTC=81,324,287;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=126;ESP6500_EA_AC=71,3111;ESP6500_EA_GTC=0,71,1520;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000090.3:intron;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:188997626;ESP6500_GTC=81,395,1807;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.1870-74G>A;ESP6500_MAF=2.2313,35.1156,12.1989;ESP6500_TAC=557,4009	GT:AD:DP:GQ:PL	0/1:4,7:11:99:155,0,137
chr2	188998164	rs28736387	G	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.026;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.32;SOR=1.501;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28736387;dbSNPBuildID=125;ANN=A|downstream_gene_variant|MODIFIER|MIR3606|MIR3606|transcript|NR_037401.1|pseudogene||n.*2472G>A|||||2472|,A|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|27/50|c.1924-102G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=775;p3_1000G_AF=0.154752;p3_1000G_AFR_AF=0.4342;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=16963;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189862890;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:240,0,181
chr2	189001473	rs2271682;254962	T	A	790.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271682;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|33/50|c.2337+23T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3888;p3_1000G_AF=0.776358;p3_1000G_AFR_AF=0.6785;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=16605;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.7068;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189866199;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3033,1373;ESP6500_AA_AGE=454.4+/-350.6;ESP6500_AA_GTC=1049,935,219;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=85;ESP6500_EA_AC=6088,2512;ESP6500_EA_AGE=410.9+/-350.3;ESP6500_EA_GTC=2175,1738,387;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000090.3:intron;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:189001473;ESP6500_GTC=3224,2673,606;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.2337+23T>A;ESP6500_MAF=29.2093,31.1621,29.8708;ESP6500_TAC=9121,3885;CLINVAR_ALLELEID=250446;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189001473T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL3A1:1281;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2271682	GT:AD:DP:GQ:PL	1/1:0,25:25:75:819,75,0
chr2	189001616	rs3215251;254963	AC	A	455.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.747;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.32;ReadPosRankSum=0;SOR=0.346;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3215251;dbSNPBuildID=106;ANN=A|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|34/50|c.2391+28delC||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=774;p3_1000G_AF=0.154553;p3_1000G_AFR_AF=0.4334;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=15772;p3_1000G_EAS_AF=0.0923;p3_1000G_EUR_AF=0.0219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189866342;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=INDEL;ESP6500_AA_AC=1484,2782;ESP6500_AA_GTC=255,974,904;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=77;ESP6500_EA_AC=194,8060;ESP6500_EA_GTC=0,194,3933;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000090.3:intron;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:189001616;ESP6500_GTC=255,1168,4837;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.2391+28del1;ESP6500_MAF=2.3504,34.7867,13.4026;ESP6500_TAC=1678,10842;CLINVAR_AF_ESP=0.1340;CLINVAR_AF_EXAC=0.06177;CLINVAR_AF_TGP=0.1546;CLINVAR_ALLELEID=250447;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189001617delC;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=COL3A1:1281;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3215251	GT:AD:DP:GQ:PL	0/1:4,14:18:99:493,0,101
chr2	189002479	rs3106801	G	A	58.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3106801;dbSNPBuildID=103;ANN=A|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|35/50|c.2445+128G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1860;p3_1000G_AF=0.371406;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=17954;p3_1000G_EAS_AF=0.6062;p3_1000G_EUR_AF=0.4205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189867205;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:86,9,0
chr2	189003655	rs3765160	G	A	172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.926;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.516;SOR=1.755;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765160;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|37/50|c.2608-79G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=761;p3_1000G_AF=0.151957;p3_1000G_AFR_AF=0.4145;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=18071;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189868381;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:201,0,345
chr2	189003684	rs3765161;254964	C	T	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.357;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.237;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=-0.999;SOR=0.681;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3765161;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|37/50|c.2608-50C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=760;p3_1000G_AF=0.151757;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=16826;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189868410;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1445,2961;ESP6500_AA_AGE=678.1+/-403.5;ESP6500_AA_GTC=235,975,993;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=63;ESP6500_EA_AC=258,8342;ESP6500_EA_AGE=807.6+/-407.2;ESP6500_EA_GTC=1,256,4043;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000090.3:intron;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:189003684;ESP6500_GTC=236,1231,5036;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.2608-50C>T;ESP6500_MAF=3.0,32.7962,13.094;ESP6500_TAC=1703,11303;CLINVAR_AF_ESP=0.1309;CLINVAR_AF_EXAC=0.06606;CLINVAR_AF_TGP=0.1518;CLINVAR_ALLELEID=250448;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189003684C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL3A1:1281;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3765161	GT:AD:DP:GQ:PL	0/1:11,5:16:99:137,0,319
chr2	189010695	rs1516446;226540	T	G	4895.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=146;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.76;SOR=1.132;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1516446;dbSNPBuildID=88;ANN=G|missense_variant|MODERATE|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|50/51|c.4059T>G|p.His1353Gln|4176/5490|4059/4401|1353/1466||;p3_1000G_AA=G|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18837;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189875421;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4340,66;ESP6500_AA_AGE=61.7+/-98.7;ESP6500_AA_GTC=2137,66,0;ESP6500_CDS_SIZES=NM_000090.3:4401;ESP6500_CG=1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=103;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000090.3:missense;ESP6500_GL=COL3A1;ESP6500_GRCh38_POSITION=2:189010695;ESP6500_GS=24;ESP6500_GTC=6437,66,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000090.3:c.4059T>G;ESP6500_HGVS_PROTEIN_VAR=NM_000090.3:p.(H1353Q);ESP6500_MAF=0.0,1.498,0.5075;ESP6500_PH=benign:0.0;ESP6500_TAC=12940,66;CLINVAR_ALLELEID=228910;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189010695T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:38;CLINVAR_GENEINFO=COL3A1:1281;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1516446	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4924,435,0
chr2	189012369	rs186461880	C	T	204.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.182;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=1.07;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs186461880;dbSNPBuildID=135;ANN=T|3_prime_UTR_variant|MODIFIER|COL3A1|COL3A1|transcript|NM_000090.3|protein_coding|51/51|c.*595C>T|||||595|;p3_1000G_AA=C|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17106;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189877095;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,10:23:99:233,0,409
chr2	189034815	rs4666770	T	C	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.2;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=1.05;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4666770;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|53/53|c.4353+101A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4231;p3_1000G_AF=0.844848;p3_1000G_AFR_AF=0.8086;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=19116;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.9583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189899541;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:99:127,0,297
chr2	189034846	rs7420715	T	C	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.74;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.394;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7420715;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|53/53|c.4353+70A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4231;p3_1000G_AF=0.844848;p3_1000G_AFR_AF=0.8086;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=19043;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.9583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189899572;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:193,0,381
chr2	189043211	rs6434312	A	G	424.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6434312;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|48/54|c.3411T>C|p.Gly1137Gly|3686/6930|3411/4500|1137/1499||;p3_1000G_AA=G|||;p3_1000G_AC=4712;p3_1000G_AF=0.940895;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=14233;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.9761;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189907937;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4188,218;ESP6500_AA_AGE=131.8+/-168.3;ESP6500_AA_GTC=1989,210,4;ESP6500_CDS_SIZES=NM_000393.3:4500;ESP6500_CG=-1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=94;ESP6500_EA_AC=8445,155;ESP6500_EA_AGE=75.7+/-138.4;ESP6500_EA_GTC=4146,153,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000393.3:coding-synonymous;ESP6500_GL=COL5A2;ESP6500_GRCh38_POSITION=2:189043211;ESP6500_GTC=6135,363,5;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000393.3:c.3411T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000393.3:p.(G1137);ESP6500_MAF=1.8023,4.9478,2.8679;ESP6500_TAC=12633,373	GT:AD:DP:GQ:PL	1/1:0,14:14:42:453,42,0
chr2	189045340	rs188576882	A	G	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.201;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.177;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs188576882;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|46/53|c.3310-108T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=223;p3_1000G_AF=0.0445288;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.0447;p3_1000G_AN=5008;p3_1000G_DP=12232;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189910066;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:229,0,213
chr2	189045693	rs117588489	C	A	719.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.117;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.894;SOR=0.502;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117588489;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|46/53|c.3309+107G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=214;p3_1000G_AF=0.0427316;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=16654;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189910419;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,27:48:99:748,0,640
chr2	189054061	rs6738371	C	T	162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.057;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.059;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=2.03;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6738371;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|36/53|c.2445+98G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3207;p3_1000G_AF=0.640375;p3_1000G_AFR_AF=0.4818;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=15704;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189918787;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:191,0,261
chr2	189058378	rs7556733	A	G	1140.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.57;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7556733;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|33/53|c.2229+51T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4723;p3_1000G_AF=0.943091;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=18550;p3_1000G_EAS_AF=0.9653;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189923104;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4077,329;ESP6500_AA_AGE=170.1+/-200.6;ESP6500_AA_GTC=1884,309,10;ESP6500_CDS_SIZES=NM_000393.3:4500;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=50;ESP6500_EA_AC=8446,154;ESP6500_EA_AGE=73.5+/-136.2;ESP6500_EA_GTC=4147,152,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000393.3:intron;ESP6500_GL=COL5A2;ESP6500_GRCh38_POSITION=2:189058378;ESP6500_GTC=6031,461,11;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000393.3:c.2229+51T>C;ESP6500_MAF=1.7907,7.4671,3.7137;ESP6500_TAC=12523,483	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1169,99,0
chr2	189058675	rs10178611	T	C	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10178611;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|32/53|c.2131-148A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3208;p3_1000G_AF=0.640575;p3_1000G_AFR_AF=0.4826;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=17214;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189923401;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:71:110,0,71
chr2	189058708	rs12989558	A	C	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.674;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12989558;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|32/53|c.2130+141T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3208;p3_1000G_AF=0.640575;p3_1000G_AFR_AF=0.4826;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=16734;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189923434;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:66:75,0,66
chr2	189058904	rs5837121;213077	AT	A	275.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.506;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.2;SOR=1.061;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5837121;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|31/53|c.2086-12delA||||||;CLINVAR_ALLELEID=209545;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189058905delT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=COL5A2:1290;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=5837121	GT:AD:DP:GQ:PL	1/0:2,10:12:99:313,134,204
chr2	189058904	.	AT	ATT	275.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.506;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.2;SOR=1.061;INS;HET;VARTYPE=INS;ANN=ATT|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|31/53|c.2086-13dupA||||||	GT:AD:DP:GQ:PL	0/1:2,7:9:99:313,179,272
chr2	189060822	rs6414122;255997	T	A	284.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6414122;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|30/53|c.2032-39A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4720;p3_1000G_AF=0.942492;p3_1000G_AFR_AF=0.9062;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=16754;p3_1000G_EAS_AF=0.9653;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189925548;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4069,337;ESP6500_AA_AGE=164.0+/-195.7;ESP6500_AA_GTC=1880,309,14;ESP6500_CDS_SIZES=NM_000393.3:4500;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=8447,153;ESP6500_EA_AGE=73.8+/-136.5;ESP6500_EA_GTC=4148,151,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000393.3:intron;ESP6500_GL=COL5A2;ESP6500_GRCh38_POSITION=2:189060822;ESP6500_GTC=6028,460,15;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_000393.3:c.2032-39A>T;ESP6500_MAF=1.7791,7.6487,3.7675;ESP6500_TAC=12516,490;CLINVAR_ALLELEID=250461;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189060822T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL5A2:1290;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6414122	GT:AD:DP:GQ:PL	1/1:0,9:9:27:313,27,0
chr2	189061493	rs1391544250	C	CT	20.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.37;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNPBuildID=151;ANN=CT|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|30/53|c.2031+68dupA||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0
chr2	189062780	rs7424947	C	G	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.881;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.674;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7424947;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|29/53|c.1977+85G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4154;p3_1000G_AF=0.829473;p3_1000G_AFR_AF=0.7776;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=13541;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.9563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189927506;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:127,0,173
chr2	189068105	rs2229495	T	C	1281.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=0.843;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229495;dbSNPBuildID=98;ANN=C|synonymous_variant|LOW|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|21/54|c.1311A>G|p.Pro437Pro|1586/6930|1311/4500|437/1499||;p3_1000G_AA=C|||;p3_1000G_AC=4722;p3_1000G_AF=0.942891;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=16887;p3_1000G_EAS_AF=0.9653;p3_1000G_EUR_AF=0.9801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189932831;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4073,333;ESP6500_AA_AGE=175.1+/-204.6;ESP6500_AA_GTC=1881,311,11;ESP6500_CDS_SIZES=NM_000393.3:4500;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=77;ESP6500_EA_AC=8447,153;ESP6500_EA_AGE=75.1+/-137.7;ESP6500_EA_GTC=4148,151,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000393.3:coding-synonymous;ESP6500_GL=COL5A2;ESP6500_GRCh38_POSITION=2:189068105;ESP6500_GTC=6029,462,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000393.3:c.1311A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000393.3:p.(P437);ESP6500_MAF=1.7791,7.5579,3.7367;ESP6500_TAC=12520,486	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1310,123,0
chr2	189071961	rs6434317	T	G	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6434317;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|18/53|c.1158+79A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3218;p3_1000G_AF=0.642572;p3_1000G_AFR_AF=0.4917;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=16448;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189936687;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:69:69,0,81
chr2	189078395	rs5837122;rs67456396;rs879128750	GA	G	129.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.63;SOR=3.912;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5837122,rs67456396;dbSNPBuildID=132,147,130;ANN=G|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|16/53|c.1059+120delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4695;p3_1000G_AF=0.9375;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=16472;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.9702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189943121;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:167,18,0
chr2	189088559	rs397758641;rs5837124;rs746250131	A	AAATG	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.524;SOR=0.446;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5837124;dbSNPBuildID=135,144,138;ANN=AAATG|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|8/53|c.645+132_645+135dupCATT||||||;p3_1000G_AC=3998;p3_1000G_AF=0.798323;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.7579;p3_1000G_AN=5008;p3_1000G_DP=17761;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.9553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189953285;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,135
chr2	189092479	rs79251854	C	T	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.268;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.701;SOR=0.141;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79251854;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|6/53|c.457-59G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=216;p3_1000G_AF=0.043131;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=17850;p3_1000G_EAS_AF=0.0685;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189957205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:294,0,291
chr2	189097346	rs117085226;136969	A	T	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.23;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.773;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117085226;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|5/53|c.403-16T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=214;p3_1000G_AF=0.0427316;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=17105;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189962072;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=94,4312;ESP6500_AA_AGE=77.3+/-115.6;ESP6500_AA_GTC=1,92,2110;ESP6500_CDS_SIZES=NM_000393.3:4500;ESP6500_CG=4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=101;ESP6500_EA_AC=6,8594;ESP6500_EA_AGE=5.0+/-18.6;ESP6500_EA_GTC=0,6,4294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000393.3:intron;ESP6500_GL=COL5A2;ESP6500_GRCh38_POSITION=2:189097346;ESP6500_GTC=1,98,6404;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_000393.3:c.403-16T>A;ESP6500_MAF=0.0698,2.1335,0.7689;ESP6500_TAC=100,12906;CLINVAR_AF_ESP=0.0077;CLINVAR_AF_EXAC=0.02230;CLINVAR_AF_TGP=0.0427;CLINVAR_ALLELEID=140672;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.189097346A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL5A2:1290;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=117085226	GT:AD:DP:GQ:PL	0/1:8,6:14:99:198,0,210
chr2	189110068	rs4128538;439540	G	A	588.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.527;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.641;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.473;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4128538;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|2/53|c.322+157C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3949;p3_1000G_AF=0.788538;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=19295;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.9563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189974794;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;CLINVAR_ALLELEID=433445;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189110068G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:14766;CLINVAR_GENEINFO=COL5A2:1290;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4128538	GT:AD:DP:GQ:PL	0/1:42,25:67:99:617,0,1320
chr2	189110232	rs4128539;439539	G	T	1984.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.766;ClippingRankSum=0;DP=209;ExcessHet=3.0103;FS=3.185;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.351;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4128539;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|COL5A2|COL5A2|transcript|NM_000393.3|protein_coding|2/54|c.315C>A|p.Thr105Thr|590/6930|315/4500|105/1499||;p3_1000G_AA=T|||;p3_1000G_AC=4450;p3_1000G_AF=0.888578;p3_1000G_AFR_AF=0.8502;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=18342;p3_1000G_EAS_AF=0.8958;p3_1000G_EUR_AF=0.9771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=189974958;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3784,622;ESP6500_AA_AGE=269.2+/-268.9;ESP6500_AA_GTC=1627,530,46;ESP6500_CDS_SIZES=NM_000393.3:4500;ESP6500_CG=0.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=72;ESP6500_EA_AC=8441,159;ESP6500_EA_AGE=76.9+/-139.5;ESP6500_EA_GTC=4142,157,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000393.3:coding-synonymous;ESP6500_GL=COL5A2;ESP6500_GRCh38_POSITION=2:189110232;ESP6500_GTC=5769,687,47;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000393.3:c.315C>A;ESP6500_HGVS_PROTEIN_VAR=NM_000393.3:p.(T105);ESP6500_MAF=1.8488,14.1171,6.0049;ESP6500_TAC=12225,781;CLINVAR_ALLELEID=433444;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189110232G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:48;CLINVAR_GENEINFO=COL5A2:1290;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4128539	GT:AD:DP:GQ:PL	0/1:125,84:209:99:2013,0,3342
chr2	189448670	rs6738193	A	G	956.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.81;SOR=2.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6738193;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_032168.2|protein_coding|2/20|c.216+162A>G||||||,G|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_001303096.1|protein_coding|2/21|c.-10-131A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3708;p3_1000G_AF=0.740415;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=20471;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.9006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190313396;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:985,81,0
chr2	189449115	rs1992295	T	C	704.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1992295;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_032168.2|protein_coding|2/20|c.216+607T>C||||||,C|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_001303096.1|protein_coding|3/21|c.24+281T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3708;p3_1000G_AF=0.740415;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=18240;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.9006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190313841;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:733,54,0
chr2	189455240	rs5837143	C	CA	110.52	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.21;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.42;ReadPosRankSum=1.38;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5837143;dbSNPBuildID=126;ANN=CA|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_032168.2|protein_coding|4/20|c.374-70dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_001303096.1|protein_coding|5/21|c.182-70dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2577;p3_1000G_AF=0.514577;p3_1000G_AFR_AF=0.3071;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=18324;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.6332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190319966;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5327;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,5:6:7:147,0,7
chr2	189455264	rs1224958	A	G	402.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1224958;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_032168.2|protein_coding|4/20|c.374-56A>G||||||,G|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_001303096.1|protein_coding|5/21|c.182-56A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5001;p3_1000G_AF=0.998602;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17909;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190319990;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:431,33,0
chr2	189457470	rs10497700	T	C	148.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10497700;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_032168.2|protein_coding|6/20|c.569+89T>C||||||,C|intron_variant|MODIFIER|WDR75|WDR75|transcript|NM_001303096.1|protein_coding|7/21|c.377+89T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2624;p3_1000G_AF=0.523962;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=16991;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.6551;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190322196;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:177,15,0
chr2	189458804	rs1157910	A	G	1677.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=1.034;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1157910;dbSNPBuildID=87;ANN=G|synonymous_variant|LOW|WDR75|WDR75|transcript|NM_032168.2|protein_coding|7/21|c.621A>G|p.Thr207Thr|681/2698|621/2493|207/830||,G|synonymous_variant|LOW|WDR75|WDR75|transcript|NM_001303096.1|protein_coding|8/22|c.429A>G|p.Thr143Thr|715/2732|429/2301|143/766||;p3_1000G_AA=A|||;p3_1000G_AC=2632;p3_1000G_AF=0.525559;p3_1000G_AFR_AF=0.267;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=17860;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.6551;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190323530;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1418,2988;ESP6500_AA_AGE=462.3+/-353.2;ESP6500_AA_GTC=229,960,1014;ESP6500_CDS_SIZES=NM_032168.1:2493;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=115;ESP6500_EA_AC=5854,2746;ESP6500_EA_AGE=679.4+/-403.6;ESP6500_EA_GTC=2016,1822,462;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032168.1:coding-synonymous;ESP6500_GL=WDR75;ESP6500_GRCh38_POSITION=2:189458804;ESP6500_GTC=2245,2782,1476;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032168.1:c.621A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032168.1:p.(T207);ESP6500_MAF=31.9302,32.1834,44.0873;ESP6500_TAC=7272,5734	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1706,177,0
chr2	189565451	rs2304704;260422	A	G	1222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.101;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0.945;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=0.741;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304704;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|SLC40A1|SLC40A1|transcript|NM_014585.5|protein_coding|6/8|c.663T>C|p.Val221Val|1014/3355|663/1716|221/571||;p3_1000G_AA=A|||;p3_1000G_AC=2755;p3_1000G_AF=0.55012;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=19900;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.6054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190430177;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6708;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1018,3388;ESP6500_AA_AGE=376.6+/-322.1;ESP6500_AA_GTC=108,802,1293;ESP6500_CDS_SIZES=NM_014585.5:1716;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=85;ESP6500_EA_AC=5505,3095;ESP6500_EA_AGE=659.2+/-401.6;ESP6500_EA_GTC=1756,1993,551;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014585.5:coding-synonymous;ESP6500_GL=SLC40A1;ESP6500_GRCh38_POSITION=2:189565451;ESP6500_GTC=1864,2795,1844;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014585.5:c.663T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014585.5:p.(V221);ESP6500_MAF=35.9884,23.1049,49.8462;ESP6500_TAC=6523,6483;CLINVAR_ALLELEID=250469;CLINVAR_CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_hemochromatosis|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189565451A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27425;CLINVAR_GENEINFO=SLC40A1:30061;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2304704	GT:AD:DP:GQ:PL	0/1:24,46:70:99:1251,0,602
chr2	189572756	rs35134106;rs397770024;rs758722597	C	CA	403.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.56;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.792;SOR=0.346;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35134106;dbSNPBuildID=144,137,138;ANN=CA|intron_variant|MODIFIER|SLC40A1|SLC40A1|transcript|NM_014585.5|protein_coding|4/7|c.387+89dupT||||||	GT:AD:DP:GQ:PL	0/1:6,20:26:90:441,0,90
chr2	189575372	.	A	G	161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.25;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.023;SOR=1.609;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|SLC40A1|SLC40A1|transcript|NM_014585.5|protein_coding|2/7|c.112-52T>C||||||	GT:AD:DP:GQ:PL	0/1:4,7:11:66:190,0,66
chr2	189579904	rs1439816	C	G	830.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1439816;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SLC40A1|SLC40A1|transcript|NM_014585.5|protein_coding|1/7|c.44-24G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3303;p3_1000G_AF=0.659545;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=18776;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190444630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1654,2752;ESP6500_AA_AGE=657.8+/-400.3;ESP6500_AA_GTC=321,1012,870;ESP6500_CDS_SIZES=NM_014585.5:1716;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=58;ESP6500_EA_AC=7323,1277;ESP6500_EA_AGE=252.6+/-278.6;ESP6500_EA_GTC=3122,1079,99;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014585.5:intron;ESP6500_GL=SLC40A1;ESP6500_GRCh38_POSITION=2:189579904;ESP6500_GTC=3443,2091,969;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014585.5:c.44-24G>C;ESP6500_MAF=14.8488,37.5397,30.978;ESP6500_TAC=8977,4029	GT:AD:DP:GQ:PL	1/1:0,26:26:78:859,78,0
chr2	189580350	rs4287798	T	G	765.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-2.415;SOR=0.885;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4287798;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|SLC40A1|SLC40A1|transcript|NM_014585.5|protein_coding|1/7|c.43+68A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2807;p3_1000G_AF=0.560503;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=18759;p3_1000G_EAS_AF=0.7768;p3_1000G_EUR_AF=0.6153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190445076;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=452,932;ESP6500_AA_GTC=76,300,316;ESP6500_CDS_SIZES=NM_014585.5:1716;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=42;ESP6500_EA_AC=2020,1162;ESP6500_EA_GTC=628,764,199;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014585.5:intron;ESP6500_GL=SLC40A1;ESP6500_GRCh38_POSITION=2:189580350;ESP6500_GTC=704,1064,515;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014585.5:c.43+68A>C;ESP6500_MAF=36.5179,32.659,45.8607;ESP6500_TAC=2472,2094	GT:AD:DP:GQ:PL	0/1:35,31:66:99:794,0,866
chr2	189580468	rs11568351;260420	G	C	935.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.175;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.773;SOR=0.655;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11568351;dbSNPBuildID=121;ANN=C|5_prime_UTR_variant|MODIFIER|SLC40A1|SLC40A1|transcript|NM_014585.5|protein_coding|1/8|c.-8C>G|||||8|;p3_1000G_AA=G|||;p3_1000G_AC=476;p3_1000G_AF=0.0950479;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=15675;p3_1000G_EAS_AF=0.0337;p3_1000G_EUR_AF=0.2266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190445194;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=214,4192;ESP6500_AA_AGE=130.6+/-167.2;ESP6500_AA_GTC=7,200,1996;ESP6500_CDS_SIZES=NM_014585.5:1716;ESP6500_CG=3.0;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=87;ESP6500_EA_AC=1867,6733;ESP6500_EA_AGE=334.6+/-321.1;ESP6500_EA_GTC=206,1455,2639;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014585.5:utr-5;ESP6500_GL=SLC40A1;ESP6500_GRCh38_POSITION=2:189580468;ESP6500_GTC=213,1655,4635;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014585.5:c.-8C>G;ESP6500_MAF=21.7093,4.857,16.0003;ESP6500_TAC=2081,10925;CLINVAR_AF_ESP=0.1600;CLINVAR_AF_EXAC=0.17359;CLINVAR_AF_TGP=0.0951;CLINVAR_ALLELEID=250470;CLINVAR_CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_hemochromatosis|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189580468G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27448;CLINVAR_GENEINFO=SLC40A1:30061;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11568351	GT:AD:DP:GQ:PL	0/1:42,41:83:99:964,0,984
chr2	189580558	rs13008848;260421	C	G	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.021;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.802;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.39;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13008848;dbSNPBuildID=121;ANN=G|5_prime_UTR_variant|MODIFIER|SLC40A1|SLC40A1|transcript|NM_014585.5|protein_coding|1/8|c.-98G>C|||||98|;p3_1000G_AA=C|||;p3_1000G_AC=485;p3_1000G_AF=0.096845;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=16531;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.2266;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190445284;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.20481;CLINVAR_AF_TGP=0.0969;CLINVAR_ALLELEID=250471;CLINVAR_CLNDISDB=MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374;CLINVAR_CLNDN=Hereditary_hemochromatosis|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.189580558C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27469;CLINVAR_GENEINFO=SLC40A1:30061;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13008848	GT:AD:DP:GQ:PL	0/1:14,10:24:99:353,0,536
chr2	189661479	rs2289226	C	T	971.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.854;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=2.409;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.158;SOR=0.408;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289226;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|ASNSD1|ASNSD1|transcript|NM_019048.2|protein_coding|1/6|c.-354C>T|||||4654|;p3_1000G_AA=C|||;p3_1000G_AC=3179;p3_1000G_AF=0.634784;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=17208;p3_1000G_EAS_AF=0.7391;p3_1000G_EUR_AF=0.7306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190526205;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:31,38:69:99:1000,0,860
chr2	189661498	rs1132360	C	T	1093.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.298;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=1.791;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.33;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1132360;dbSNPBuildID=86;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|ASNSD1|ASNSD1|transcript|NM_019048.2|protein_coding|1/6|c.-335C>T||||||,T|5_prime_UTR_variant|MODIFIER|ASNSD1|ASNSD1|transcript|NM_019048.2|protein_coding|1/6|c.-335C>T|||||4635|;p3_1000G_AA=C|||;p3_1000G_AC=2944;p3_1000G_AF=0.587859;p3_1000G_AFR_AF=0.1604;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=17169;p3_1000G_EAS_AF=0.7361;p3_1000G_EUR_AF=0.7306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190526224;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1122,0,1134
chr2	189666700	rs1437880	G	A	1602.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=0.866;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1437880;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|ASNSD1|ASNSD1|transcript|NM_019048.2|protein_coding|4/6|c.568G>A|p.Gly190Arg|1002/2471|568/1932|190/643||;p3_1000G_AA=A|||;p3_1000G_AC=4923;p3_1000G_AF=0.983027;p3_1000G_AFR_AF=0.9387;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=19761;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190531426;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4191,215;ESP6500_AA_GTC=1994,203,6;ESP6500_CDS_SIZES=NM_019048.2:1932;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=57;ESP6500_EA_AC=8590,0;ESP6500_EA_GTC=4295,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019048.2:missense;ESP6500_GL=ASNSD1;ESP6500_GRCh38_POSITION=2:189666700;ESP6500_GS=125;ESP6500_GTC=6289,203,6;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019048.2:c.568G>A;ESP6500_HGVS_PROTEIN_VAR=NM_019048.2:p.(G190R);ESP6500_MAF=0.0,4.8797,1.6544;ESP6500_PH=benign:0.0;ESP6500_TAC=12781,215	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1631,144,0
chr2	189668042	.	C	A	12.99	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.093;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.447;SOR=0.368;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|ASNSD1|ASNSD1|transcript|NM_019048.2|protein_coding|5/5|c.1646+97C>A||||||	GT:AD:DP:GQ:PL	0/1:9,2:11:41:41,0,345
chr2	189670812	rs893782	C	T	46.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs893782;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|ASNSD1|ASNSD1|transcript|NM_019048.2|protein_coding|6/6|c.*86C>T|||||86|;p3_1000G_AA=T|||;p3_1000G_AC=4932;p3_1000G_AF=0.984824;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=14638;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190535538;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:74,6,0
chr2	189696334	rs113995284	A	G	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.73;ReadPosRankSum=0.574;SOR=0.683;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113995284;dbSNPBuildID=132;ANN=G|missense_variant|MODERATE|ANKAR|ANKAR|transcript|NM_144708.3|protein_coding|7/23|c.1673A>G|p.Lys558Arg|1761/4416|1673/4305|558/1434||;p3_1000G_AA=A|||;p3_1000G_AC=225;p3_1000G_AF=0.0449281;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=19205;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190561060;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0573;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=279,4127;ESP6500_AA_AGE=152.2+/-185.9;ESP6500_AA_GTC=11,257,1935;ESP6500_CDS_SIZES=NM_144708.3:4305;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=100;ESP6500_EA_AC=176,8424;ESP6500_EA_AGE=77.8+/-140.4;ESP6500_EA_GTC=2,172,4126;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144708.3:missense;ESP6500_GL=ANKAR;ESP6500_GRCh38_POSITION=2:189696334;ESP6500_GS=26;ESP6500_GTC=13,429,6061;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144708.3:c.1673A>G;ESP6500_HGVS_PROTEIN_VAR=NM_144708.3:p.(K558R);ESP6500_MAF=2.0465,6.3323,3.4984;ESP6500_TAC=455,12551	GT:AD:DP:GQ:PL	0/1:29,12:41:99:304,0,822
chr2	189705275	rs11319823;rs796798093	TA	T	49.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.42;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11319823;dbSNPBuildID=130,146;ANN=T|intron_variant|MODIFIER|ANKAR|ANKAR|transcript|NM_144708.3|protein_coding|8/22|c.1910+61delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4926;p3_1000G_AF=0.983626;p3_1000G_AFR_AF=0.941;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18643;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190570001;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL;ESP6500_AA_AC=3936,188;ESP6500_AA_GTC=1886,164,12;ESP6500_CDS_SIZES=NM_144708.3:4305;ESP6500_CG=1.2;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=36;ESP6500_EA_AC=8152,36;ESP6500_EA_GTC=4058,36,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144708.3:intron;ESP6500_GL=ANKAR;ESP6500_GRCh38_POSITION=2:189705275;ESP6500_GTC=5944,200,12;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_144708.3:c.1910+52del1;ESP6500_MAF=0.4397,4.5587,1.8194;ESP6500_TAC=12088,224	GT:AD:DP:GQ:PL	1/1:0,3:3:9:86,9,0
chr2	189710942	rs115359564	G	A	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.965;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.89;ReadPosRankSum=-0.473;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115359564;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ANKAR|ANKAR|transcript|NM_144708.3|protein_coding|9/22|c.2120-107G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=224;p3_1000G_AF=0.0447284;p3_1000G_AFR_AF=0.0802;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=17277;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190575668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:214,0,138
chr2	189728585	rs1225087	C	G	849.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.15;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1225087;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|ANKAR|ANKAR|transcript|NM_144708.3|protein_coding|14/22|c.3032-75C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4925;p3_1000G_AF=0.983427;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17653;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190593311;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:878,66,0
chr2	189730532	rs1225090	G	T	630.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.28;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1225090;dbSNPBuildID=87;ANN=T|missense_variant|MODERATE|ANKAR|ANKAR|transcript|NM_144708.3|protein_coding|16/23|c.3231G>T|p.Leu1077Phe|3319/4416|3231/4305|1077/1434||;p3_1000G_AA=T|||;p3_1000G_AC=4925;p3_1000G_AF=0.983427;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=14495;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190595258;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4129,277;ESP6500_AA_AGE=154.8+/-188.1;ESP6500_AA_GTC=1929,271,3;ESP6500_CDS_SIZES=NM_144708.3:4305;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=100;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144708.3:missense;ESP6500_GL=ANKAR;ESP6500_GRCh38_POSITION=2:189730532;ESP6500_GS=22;ESP6500_GTC=6226,274,3;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_144708.3:c.3231G>T;ESP6500_HGVS_PROTEIN_VAR=NM_144708.3:p.(L1077F);ESP6500_MAF=0.0349,6.2869,2.1529;ESP6500_PH=benign:0.0;ESP6500_TAC=12726,280	GT:AD:DP:GQ:PL	1/1:0,24:24:72:659,72,0
chr2	189737787	rs1225099	T	C	2319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=1.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1225099;dbSNPBuildID=87;ANN=C|synonymous_variant|LOW|ANKAR|ANKAR|transcript|NM_144708.3|protein_coding|18/23|c.3528T>C|p.Phe1176Phe|3616/4416|3528/4305|1176/1434||;p3_1000G_AA=T|||;p3_1000G_AC=4923;p3_1000G_AF=0.983027;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19581;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190602513;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4129,277;ESP6500_AA_AGE=791.5+/-415.1;ESP6500_AA_GTC=1929,271,3;ESP6500_CDS_SIZES=NM_144708.3:4305;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=63;ESP6500_EA_AC=8591,3;ESP6500_EA_AGE=815.2+/-407.0;ESP6500_EA_GTC=4294,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144708.3:coding-synonymous;ESP6500_GL=ANKAR;ESP6500_GRCh38_POSITION=2:189737787;ESP6500_GTC=6223,274,3;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144708.3:c.3528T>C;ESP6500_HGVS_PROTEIN_VAR=NM_144708.3:p.(F1176);ESP6500_MAF=0.0349,6.2869,2.1538;ESP6500_TAC=12720,280	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2348,236,0
chr2	189746358	rs13002216	T	C	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.43;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=0;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13002216;dbSNPBuildID=121;ANN=C|downstream_gene_variant|MODIFIER|OSGEPL1|OSGEPL1|transcript|NM_022353.2|protein_coding||c.*4220A>G|||||302|,C|intron_variant|MODIFIER|ANKAR|ANKAR|transcript|NM_144708.3|protein_coding|22/22|c.4058-22T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2870;p3_1000G_AF=0.573083;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=15045;p3_1000G_EAS_AF=0.7302;p3_1000G_EUR_AF=0.7286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190611084;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=978,3424;ESP6500_AA_AGE=345.7+/-308.6;ESP6500_AA_GTC=111,756,1334;ESP6500_CDS_SIZES=NM_144708.3:4305;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=105;ESP6500_EA_AC=6351,2247;ESP6500_EA_AGE=696.7+/-404.9;ESP6500_EA_GTC=2349,1653,297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144708.3:intron;ESP6500_GL=ANKAR;ESP6500_GRCh38_POSITION=2:189746358;ESP6500_GTC=2460,2409,1631;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144708.3:c.4058-22T>C;ESP6500_MAF=26.134,22.2172,43.6231;ESP6500_TAC=7329,5671	GT:AD:DP:GQ:PL	0/1:13,5:18:99:156,0,326
chr2	189746688	rs2254166	T	C	137.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2254166;dbSNPBuildID=100;ANN=C|3_prime_UTR_variant|MODIFIER|OSGEPL1|OSGEPL1|transcript|NM_022353.2|protein_coding|9/9|c.*509A>G|||||3890|,C|downstream_gene_variant|MODIFIER|ANKAR|ANKAR|transcript|NM_144708.3|protein_coding||c.*61T>C|||||38|;p3_1000G_AA=T|||;p3_1000G_AC=4923;p3_1000G_AF=0.983027;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=15420;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190611414;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:166,15,0
chr2	189752917	rs2243876	A	G	1334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.92;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2243876;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|OSGEPL1|OSGEPL1|transcript|NM_022353.2|protein_coding|6/9|c.1026T>C|p.Asn342Asn|1560/2316|1026/1245|342/414||;p3_1000G_AA=G|||;p3_1000G_AC=4859;p3_1000G_AF=0.970248;p3_1000G_AFR_AF=0.8903;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17769;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190617643;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3379,375;ESP6500_AA_GTC=1515,349,13;ESP6500_CDS_SIZES=NM_022353.2:1245;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=8236,4;ESP6500_EA_GTC=4116,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022353.2:coding-synonymous;ESP6500_GL=OSGEPL1;ESP6500_GRCh38_POSITION=2:189752917;ESP6500_GTC=5631,353,13;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022353.2:c.1026T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022353.2:p.(N342);ESP6500_MAF=0.0485,9.9893,3.1599;ESP6500_TAC=11615,379	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1363,114,0
chr2	189752974	rs16831960	T	C	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.417;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.705;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16831960;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|OSGEPL1|OSGEPL1|transcript|NM_022353.2|protein_coding|6/9|c.969A>G|p.Ala323Ala|1503/2316|969/1245|323/414||;p3_1000G_AA=T|||;p3_1000G_AC=387;p3_1000G_AF=0.0772764;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=17221;p3_1000G_EAS_AF=0.0486;p3_1000G_EUR_AF=0.0726;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190617700;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=304,3410;ESP6500_AA_GTC=10,284,1563;ESP6500_CDS_SIZES=NM_022353.2:1245;ESP6500_CG=-5.2;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=57;ESP6500_EA_AC=535,7667;ESP6500_EA_GTC=11,513,3577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022353.2:coding-synonymous;ESP6500_GL=OSGEPL1;ESP6500_GRCh38_POSITION=2:189752974;ESP6500_GTC=21,797,5140;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022353.2:c.969A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022353.2:p.(A323);ESP6500_MAF=6.5228,8.1852,7.041;ESP6500_TAC=839,11077	GT:AD:DP:GQ:PL	0/1:8,13:21:99:341,0,199
chr2	189771685	rs6942	C	G	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.68;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.17;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6942;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|ORMDL1|ORMDL1|transcript|NM_001128150.1|protein_coding|4/4|c.*82G>C|||||82|,G|3_prime_UTR_variant|MODIFIER|ORMDL1|ORMDL1|transcript|NM_016467.4|protein_coding|5/5|c.*82G>C|||||82|;p3_1000G_AA=C|||;p3_1000G_AC=2924;p3_1000G_AF=0.583866;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=18071;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.7286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190636411;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:248,0,323
chr2	189775749	rs3816196	A	G	231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=0.483;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816196;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ORMDL1|ORMDL1|transcript|NM_001128150.1|protein_coding|2/3|c.175-33T>C||||||,G|intron_variant|MODIFIER|ORMDL1|ORMDL1|transcript|NM_016467.4|protein_coding|3/4|c.175-33T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2923;p3_1000G_AF=0.583666;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=17964;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.7286;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190640475;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1093,3313;ESP6500_AA_AGE=387.9+/-326.7;ESP6500_AA_GTC=136,821,1246;ESP6500_CDS_SIZES=NM_016467.4:462,NM_001128150.1:462;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=43;ESP6500_EA_AC=6355,2245;ESP6500_EA_AGE=706.0+/-405.5;ESP6500_EA_GTC=2351,1653,296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016467.4:intron,NM_001128150.1:intron;ESP6500_GL=ORMDL1;ESP6500_GRCh38_POSITION=2:189775749;ESP6500_GTC=2487,2474,1542;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016467.4:c.175-33T>C,NM_001128150.1:c.175-33T>C;ESP6500_MAF=26.1047,24.8071,42.7341;ESP6500_TAC=7448,5558	GT:AD:DP:GQ:PL	0/1:5,8:13:99:260,0,149
chr2	189782382	rs10168387	T	C	452.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.56;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10168387;dbSNPBuildID=119;ANN=C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_000534.4|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321051.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321049.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001128143.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001128144.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001289408.1|protein_coding||c.-35745T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001289409.1|protein_coding||c.-35745T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321044.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321045.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321046.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321047.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321048.1|protein_coding||c.-9428T>C|||||1703|,C|upstream_gene_variant|MODIFIER|PMS1|PMS1|transcript|NR_110332.1|pseudogene||n.-1703T>C|||||1703|,C|intron_variant|MODIFIER|ORMDL1|ORMDL1|transcript|NM_001128150.1|protein_coding|2/3|c.174+40A>G||||||,C|intron_variant|MODIFIER|ORMDL1|ORMDL1|transcript|NM_016467.4|protein_coding|3/4|c.174+40A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4937;p3_1000G_AF=0.985823;p3_1000G_AFR_AF=0.9486;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21192;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190647108;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4162,240;ESP6500_AA_GTC=1964,234,3;ESP6500_CDS_SIZES=NM_016467.4:462,NM_001128150.1:462;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=26;ESP6500_EA_AC=8597,3;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016467.4:intron,NM_001128150.1:intron;ESP6500_GL=ORMDL1;ESP6500_GRCh38_POSITION=2:189782382;ESP6500_GTC=6261,237,3;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016467.4:c.174+40A>G,NM_001128150.1:c.174+40A>G;ESP6500_MAF=0.0349,5.4521,1.8689;ESP6500_TAC=12759,243	GT:AD:DP:GQ:PL	1/1:0,12:12:36:481,36,0
chr2	189818226	rs113116659;rs2066454	T	TAAAC	94.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.92;ReadPosRankSum=1.15;SOR=2.712;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113116659,rs2066454;dbSNPBuildID=132,138;ANN=TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_000534.4|protein_coding|5/12|c.582+49_582+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001128143.1|protein_coding|5/11|c.582+49_582+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001128144.1|protein_coding|5/11|c.582+49_582+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001289408.1|protein_coding|4/11|c.54+49_54+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001289409.1|protein_coding|3/10|c.54+49_54+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321044.1|protein_coding|5/10|c.582+49_582+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321045.1|protein_coding|6/13|c.582+49_582+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321046.1|protein_coding|4/11|c.399+49_399+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321047.1|protein_coding|5/12|c.582+49_582+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321048.1|protein_coding|6/13|c.582+49_582+52dupACAA||||||INFO_REALIGN_3_PRIME,TAAAC|intron_variant|MODIFIER|PMS1|PMS1|transcript|NR_110332.1|pseudogene|6/12|n.1208+49_1208+52dupACAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=374;p3_1000G_AF=0.0746805;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=17617;p3_1000G_EAS_AF=0.0258;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190682952;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=INDEL;ESP6500_AA_AC=621,3483;ESP6500_AA_GTC=65,491,1496;ESP6500_CDS_SIZES=NM_001128144.1:2313,NM_001128143.1:2682,NM_000534.4:2799;ESP6500_CG=4.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=4;ESP6500_EA_AC=171,7931;ESP6500_EA_GTC=7,157,3887;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001128144.1:intron,NM_001128143.1:intron,NM_000534.4:intron;ESP6500_GL=PMS1;ESP6500_GRCh38_POSITION=2:189818226;ESP6500_GTC=72,648,5383;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001128144.1:c.582+46_582+47insAAAC,NM_001128143.1:c.582+46_582+47insAAAC,NM_000534.4:c.582+46_582+47insAAAC;ESP6500_MAF=2.1106,15.1316,6.4886;ESP6500_TAC=792,11414	GT:AD:DP:GQ:PL	0/1:12,4:16:99:132,0,682
chr2	189857444	rs735558	G	A	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.854;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.444;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=1.34;SOR=0.355;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs735558;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_000534.4|protein_coding|9/12|c.1856+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001128143.1|protein_coding|8/11|c.1739+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001128144.1|protein_coding|9/11|c.1856+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001289408.1|protein_coding|8/11|c.1328+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001289409.1|protein_coding|7/10|c.1328+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321044.1|protein_coding|8/10|c.1739+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321045.1|protein_coding|10/13|c.1856+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321046.1|protein_coding|8/11|c.1673+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321047.1|protein_coding|9/12|c.1856+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321048.1|protein_coding|10/13|c.1856+2316G>A||||||,A|intron_variant|MODIFIER|PMS1|PMS1|transcript|NR_110332.1|pseudogene|9/12|n.2365+2316G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=311;p3_1000G_AF=0.0621006;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=18331;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0.0298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190722170;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,13:33:99:268,0,561
chr2	189857617	rs735559	T	C	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.229;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=1.19;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs735559;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_000534.4|protein_coding|9/12|c.1856+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001128143.1|protein_coding|8/11|c.1739+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001128144.1|protein_coding|9/11|c.1856+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001289408.1|protein_coding|8/11|c.1328+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001289409.1|protein_coding|7/10|c.1328+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321044.1|protein_coding|8/10|c.1739+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321045.1|protein_coding|10/13|c.1856+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321046.1|protein_coding|8/11|c.1673+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321047.1|protein_coding|9/12|c.1856+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NM_001321048.1|protein_coding|10/13|c.1856+2489T>C||||||,C|intron_variant|MODIFIER|PMS1|PMS1|transcript|NR_110332.1|pseudogene|9/12|n.2365+2489T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1678;p3_1000G_AF=0.335064;p3_1000G_AFR_AF=0.7844;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=20502;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190722343;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,7:19:99:170,0,360
chr2	190062133	rs11333758;rs398080918	GT	G	733.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.534;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=5.244;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.431;SOR=0.204;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11333758;dbSNPBuildID=131,138;ANN=G|intron_variant|MODIFIER|MSTN|MSTN|transcript|NM_005259.2|protein_coding|1/2|c.373+90delA||||||;p3_1000G_AA=TT|TTT|TT|insertion;p3_1000G_AC=1879;p3_1000G_AF=0.3752;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=19076;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=190926859;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:23,26:49:99:771,0,663
chr2	190200027	rs6753459	C	T	790.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.525;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.425;SOR=0.676;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6753459;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|C2orf88|C2orf88|transcript|NM_001042519.1|protein_coding|2/2|c.167C>T|p.Thr56Ile|578/4035|167/288|56/95||,T|missense_variant|MODERATE|C2orf88|C2orf88|transcript|NM_001042521.1|protein_coding|3/3|c.167C>T|p.Thr56Ile|546/4003|167/288|56/95||,T|missense_variant|MODERATE|C2orf88|C2orf88|transcript|NM_001042520.1|protein_coding|2/2|c.167C>T|p.Thr56Ile|534/3991|167/288|56/95||,T|missense_variant|MODERATE|C2orf88|C2orf88|transcript|NM_032321.2|protein_coding|2/2|c.167C>T|p.Thr56Ile|505/3962|167/288|56/95||,T|downstream_gene_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding||c.*5090G>A|||||4607|,T|downstream_gene_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding||c.*5200G>A|||||4607|;p3_1000G_AA=T|||;p3_1000G_AC=1771;p3_1000G_AF=0.353634;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=21385;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191064753;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1769,2189;ESP6500_AA_GTC=415,939,625;ESP6500_CDS_SIZES=NM_032321.2:288,NM_001042521.1:288,NM_001042520.1:288,NM_001042519.1:288;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=191;ESP6500_EA_AC=1970,6336;ESP6500_EA_GTC=227,1516,2410;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032321.2:missense,NM_001042521.1:missense,NM_001042520.1:missense,NM_001042519.1:missense;ESP6500_GL=C2orf88;ESP6500_GRCh38_POSITION=2:190200027;ESP6500_GS=89,89,89,89;ESP6500_GTC=642,2455,3035;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032321.2:c.167C>T,NM_001042521.1:c.167C>T,NM_001042520.1:c.167C>T,NM_001042519.1:c.167C>T;ESP6500_HGVS_PROTEIN_VAR=NM_032321.2:p.(T56I),NM_001042521.1:p.(T56I),NM_001042520.1:p.(T56I),NM_001042519.1:p.(T56I);ESP6500_MAF=23.7178,44.6943,30.4876;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3739,8525	GT:AD:DP:GQ:PL	0/1:47,36:83:99:819,0,1200
chr2	190244807	rs11883568	C	T	247.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.259;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.133;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11883568;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|11/13|c.891+80G>A||||||,T|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|11/12|c.891+80G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1728;p3_1000G_AF=0.345048;p3_1000G_AFR_AF=0.4728;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=20073;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191109533;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:276,0,326
chr2	190249503	rs2244076	T	C	196.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2244076;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|9/13|c.750+137A>G||||||,C|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|9/12|c.750+137A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1701;p3_1000G_AF=0.339657;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=15784;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191114229;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:190249503_T_C:225,15,0
chr2	190249509	rs2244075	G	A	196.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.61;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2244075;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|9/13|c.750+131C>T||||||,A|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|9/12|c.750+131C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1702;p3_1000G_AF=0.339856;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=15740;p3_1000G_EAS_AF=0.4296;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191114235;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,5:5:15:1|1:190249503_T_C:225,15,0
chr2	190251685	.	TAA	T	14.87	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=1.07;SOR=0.307;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3838546;ANN=T|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|8/13|c.663+475_663+476delTT||||||,T|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|8/12|c.663+475_663+476delTT||||||	GT:AD:DP:GQ:PL	0/1:6,2:8:52:52,0,197
chr2	190251712	rs3838547	C	CAT	37.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.524;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3838547;dbSNPBuildID=107;ANN=CAT|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|8/13|c.663+449_663+450insAT||||||,CAT|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|8/12|c.663+449_663+450insAT||||||;p3_1000G_AC=1758;p3_1000G_AF=0.351038;p3_1000G_AFR_AF=0.4939;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=15725;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191116438;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,125
chr2	190261071	rs291416	A	G	42.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0.842;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs291416;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|7/13|c.517+85T>C||||||,G|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|7/12|c.517+85T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=316;p3_1000G_AF=0.063099;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=16182;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191125797;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:55:71,0,55
chr2	190261141	rs291417;380103	A	T	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.768;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.735;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs291417;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|7/13|c.517+15T>A||||||,T|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|7/12|c.517+15T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=289;p3_1000G_AF=0.0577077;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=14806;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191125867;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0746;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=105,4285;ESP6500_AA_GTC=2,101,2092;ESP6500_CDS_SIZES=NM_198047.2:1017,NM_014362.3:1161;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=38;ESP6500_EA_AC=158,8440;ESP6500_EA_GTC=1,156,4142;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198047.2:intron,NM_014362.3:intron;ESP6500_GL=HIBCH;ESP6500_GRCh38_POSITION=2:190261141;ESP6500_GTC=3,257,6234;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_198047.2:c.517+15T>A,NM_014362.3:c.517+15T>A;ESP6500_MAF=1.8376,2.3918,2.0249;ESP6500_TAC=263,12725;CLINVAR_ALLELEID=366803;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.190261141A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HIBCH:26275;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=291417	GT:AD:DP:GQ:PL	0/1:7,9:16:99:205,0,171
chr2	190294506	rs188339	A	G	355.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=0.127;SOR=0.509;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs188339;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|4/13|c.304+40T>C||||||,G|intron_variant|MODIFIER|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|4/12|c.304+40T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3427;p3_1000G_AF=0.684305;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=15199;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.7555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191159232;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2882,1524;ESP6500_AA_GTC=967,948,288;ESP6500_CDS_SIZES=NM_198047.2:1017,NM_014362.3:1161;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=48;ESP6500_EA_AC=6512,2088;ESP6500_EA_GTC=2474,1564,262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198047.2:intron,NM_014362.3:intron;ESP6500_GL=HIBCH;ESP6500_GRCh38_POSITION=2:190294506;ESP6500_GTC=3441,2512,550;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198047.2:c.304+40T>C,NM_014362.3:c.304+40T>C;ESP6500_MAF=24.2791,34.5892,27.7718;ESP6500_TAC=9394,3612	GT:AD:DP:GQ:PL	0/1:9,12:21:99:384,0,242
chr2	190296896	rs1058180;379986	T	C	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.08;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=5.617;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=-0.872;SOR=1.358;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1058180;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|HIBCH|HIBCH|transcript|NM_014362.3|protein_coding|3/14|c.136A>G|p.Thr46Ala|431/1939|136/1161|46/386||,C|missense_variant|MODERATE|HIBCH|HIBCH|transcript|NM_198047.2|protein_coding|3/13|c.136A>G|p.Thr46Ala|431/1905|136/1017|46/338||,C|sequence_feature|LOW|HIBCH|HIBCH|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_014362.3|protein_coding|3/14|c.136A>G||||||,C|sequence_feature|LOW|HIBCH|HIBCH|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_198047.2|protein_coding|3/13|c.136A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3427;p3_1000G_AF=0.684305;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=18031;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.7555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191161622;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2889,1517;ESP6500_AA_AGE=482.1+/-359.3;ESP6500_AA_GTC=968,953,282;ESP6500_CDS_SIZES=NM_198047.2:1017,NM_014362.3:1161;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=118;ESP6500_EA_AC=6530,2070;ESP6500_EA_AGE=357.3+/-330.7;ESP6500_EA_GTC=2473,1584,243;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198047.2:missense,NM_014362.3:missense;ESP6500_GL=HIBCH;ESP6500_GRCh38_POSITION=2:190296896;ESP6500_GS=58,58;ESP6500_GTC=3441,2537,525;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198047.2:c.136A>G,NM_014362.3:c.136A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198047.2:p.(T46A),NM_014362.3:p.(T46A);ESP6500_MAF=24.0698,34.4303,27.5796;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9419,3587;CLINVAR_ALLELEID=366282;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.190296896T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=HIBCH:26275;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1058180	GT:AD:DP:GQ:PL	0/1:40,20:60:99:477,0,947
chr2	190360026	rs2067402	T	G	854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=0.922;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2067402;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|INPP1|INPP1|transcript|NM_001128928.1|protein_coding|2/6|c.-64-13T>G||||||,G|intron_variant|MODIFIER|INPP1|INPP1|transcript|NM_002194.3|protein_coding|1/5|c.-64-13T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1446;p3_1000G_AF=0.288738;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=19572;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.2326;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191224752;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:883,81,0
chr2	190360255	rs4656	G	T	1296.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=1.206;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4656;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|INPP1|INPP1|transcript|NM_001128928.1|protein_coding|3/7|c.153G>T|p.Thr51Thr|853/2163|153/1200|51/399||,T|synonymous_variant|LOW|INPP1|INPP1|transcript|NM_002194.3|protein_coding|2/6|c.153G>T|p.Thr51Thr|709/2019|153/1200|51/399||;p3_1000G_AA=G|||;p3_1000G_AC=2252;p3_1000G_AF=0.449681;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=20345;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.3012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191224981;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2896,1510;ESP6500_AA_AGE=674.4+/-402.9;ESP6500_AA_GTC=967,962,274;ESP6500_CDS_SIZES=NM_002194.3:1200,NM_001128928.1:1200;ESP6500_CG=-9.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=84;ESP6500_EA_AC=2600,6000;ESP6500_EA_AGE=420.1+/-353.3;ESP6500_EA_GTC=388,1824,2088;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002194.3:coding-synonymous,NM_001128928.1:coding-synonymous;ESP6500_GL=INPP1;ESP6500_GRCh38_POSITION=2:190360255;ESP6500_GTC=1355,2786,2362;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002194.3:c.153G>T,NM_001128928.1:c.153G>T;ESP6500_HGVS_PROTEIN_VAR=NM_002194.3:p.(T51),NM_001128928.1:p.(T51);ESP6500_MAF=30.2326,34.2714,42.2574;ESP6500_TAC=5496,7510	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1325,123,0
chr2	190362509	rs2067421	T	G	141.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.66;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2067421;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|INPP1|INPP1|transcript|NM_001128928.1|protein_coding|3/6|c.205-118T>G||||||,G|intron_variant|MODIFIER|INPP1|INPP1|transcript|NM_002194.3|protein_coding|2/5|c.205-118T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2252;p3_1000G_AF=0.449681;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=18316;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191227235;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:169,12,0
chr2	190362766	rs972689	A	G	747.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.32;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs972689;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|INPP1|INPP1|transcript|NM_001128928.1|protein_coding|4/6|c.265+79A>G||||||,G|intron_variant|MODIFIER|INPP1|INPP1|transcript|NM_002194.3|protein_coding|3/5|c.265+79A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2252;p3_1000G_AF=0.449681;p3_1000G_AFR_AF=0.7194;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=17584;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.3012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191227492;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:776,63,0
chr2	190366732	rs11544940	G	A	1065.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=1.432;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11544940;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|INPP1|INPP1|transcript|NM_001128928.1|protein_coding|5/7|c.303G>A|p.Glu101Glu|1003/2163|303/1200|101/399||,A|synonymous_variant|LOW|INPP1|INPP1|transcript|NM_002194.3|protein_coding|4/6|c.303G>A|p.Glu101Glu|859/2019|303/1200|101/399||;p3_1000G_AA=A|||;p3_1000G_AC=3464;p3_1000G_AF=0.691693;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=21478;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.5775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191231458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3442,964;ESP6500_AA_AGE=363.9+/-316.7;ESP6500_AA_GTC=1345,752,106;ESP6500_CDS_SIZES=NM_002194.3:1200,NM_001128928.1:1200;ESP6500_CG=-0.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=157;ESP6500_EA_AC=4962,3638;ESP6500_EA_AGE=525.3+/-380.7;ESP6500_EA_GTC=1427,2108,765;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002194.3:coding-synonymous,NM_001128928.1:coding-synonymous;ESP6500_GL=INPP1;ESP6500_GRCh38_POSITION=2:190366732;ESP6500_GTC=2772,2860,871;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002194.3:c.303G>A,NM_001128928.1:c.303G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002194.3:p.(E101),NM_001128928.1:p.(E101);ESP6500_MAF=42.3023,21.8793,35.3837;ESP6500_TAC=8404,4602	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1094,110,0
chr2	190366777	rs4940;rs10931450	G	A	468.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.889;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.029;SOR=0.587;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10931450;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|INPP1|INPP1|transcript|NM_001128928.1|protein_coding|5/7|c.348G>A|p.Val116Val|1048/2163|348/1200|116/399||,A|synonymous_variant|LOW|INPP1|INPP1|transcript|NM_002194.3|protein_coding|4/6|c.348G>A|p.Val116Val|904/2019|348/1200|116/399||;p3_1000G_AA=G|||;p3_1000G_AC=1385;p3_1000G_AF=0.276558;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs10931450;p3_1000G_DP=19977;p3_1000G_EAS_AF=0.4623;p3_1000G_EUR_AF=0.2316;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191231503;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=968,3438;ESP6500_AA_AGE=367.1+/-318.1;ESP6500_AA_GTC=110,748,1345;ESP6500_CDS_SIZES=NM_002194.3:1200,NM_001128928.1:1200;ESP6500_CG=0.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=169;ESP6500_EA_AC=2050,6550;ESP6500_EA_AGE=354.6+/-329.6;ESP6500_EA_GTC=236,1578,2486;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002194.3:coding-synonymous,NM_001128928.1:coding-synonymous;ESP6500_GL=INPP1;ESP6500_GRCh38_POSITION=2:190366777;ESP6500_GTC=346,2326,3831;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002194.3:c.348G>A,NM_001128928.1:c.348G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002194.3:p.(V116),NM_001128928.1:p.(V116);ESP6500_MAF=23.8372,21.97,23.2047;ESP6500_TAC=3018,9988	GT:AD:DP:GQ:PL	0/1:25,21:46:99:497,0,713
chr2	190371175	rs1882891	A	C	1544.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1882891;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|INPP1|INPP1|transcript|NM_001128928.1|protein_coding|7/7|c.973A>C|p.Arg325Arg|1673/2163|973/1200|325/399||,C|synonymous_variant|LOW|INPP1|INPP1|transcript|NM_002194.3|protein_coding|6/6|c.973A>C|p.Arg325Arg|1529/2019|973/1200|325/399||;p3_1000G_AA=C|||;p3_1000G_AC=4398;p3_1000G_AF=0.878195;p3_1000G_AFR_AF=0.8048;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=20681;p3_1000G_EAS_AF=0.9097;p3_1000G_EUR_AF=0.8658;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191235901;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3602,804;ESP6500_AA_AGE=321.3+/-297.0;ESP6500_AA_GTC=1473,656,74;ESP6500_CDS_SIZES=NM_002194.3:1200,NM_001128928.1:1200;ESP6500_CG=-0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=80;ESP6500_EA_AC=7399,1201;ESP6500_EA_AGE=244.9+/-273.9;ESP6500_EA_GTC=3183,1033,84;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002194.3:coding-synonymous,NM_001128928.1:coding-synonymous;ESP6500_GL=INPP1;ESP6500_GRCh38_POSITION=2:190371175;ESP6500_GTC=4656,1689,158;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002194.3:c.973A>C,NM_001128928.1:c.973A>C;ESP6500_HGVS_PROTEIN_VAR=NM_002194.3:p.(R325),NM_001128928.1:p.(R325);ESP6500_MAF=13.9651,18.2478,15.416;ESP6500_TAC=11001,2005	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1573,141,0
chr2	190436642	rs9646748	A	G	3894.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=110;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=0.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9646748;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|MFSD6|MFSD6|transcript|NM_017694.3|protein_coding|3/8|c.613A>G|p.Arg205Gly|937/4797|613/2376|205/791||;p3_1000G_AA=G|||;p3_1000G_AC=2466;p3_1000G_AF=0.492412;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=22706;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.4483;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191301368;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1940,2466;ESP6500_AA_AGE=617.9+/-393.1;ESP6500_AA_GTC=445,1050,708;ESP6500_CDS_SIZES=NM_017694.3:2376;ESP6500_CG=5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=79;ESP6500_EA_AC=3755,4845;ESP6500_EA_AGE=612.9+/-396.0;ESP6500_EA_GTC=829,2097,1374;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017694.3:missense;ESP6500_GL=MFSD6;ESP6500_GRCh38_POSITION=2:190436642;ESP6500_GS=125;ESP6500_GTC=1274,3147,2082;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017694.3:c.613A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017694.3:p.(R205G);ESP6500_MAF=43.6628,44.0309,43.7875;ESP6500_PH=benign:0.0;ESP6500_TAC=5695,7311	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3923,331,0
chr2	190469733	rs145257711;rs57606972	A	ATTTTTAT	40.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.81;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs57606972,rs145257711;dbSNPBuildID=134,130;ANN=ATTTTTAT|splice_region_variant&intron_variant|LOW|MFSD6|MFSD6|transcript|NM_017694.3|protein_coding|3/7|c.1533-12_1533-6dupATTTTTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4378;p3_1000G_AF=0.874201;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=14145;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.9314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191334459;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9223;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,1:1:6:77,6,0
chr2	190489765	rs3811609	T	C	305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.081;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.642;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811609;dbSNPBuildID=107;ANN=C|splice_region_variant&intron_variant|LOW|MFSD6|MFSD6|transcript|NM_017694.3|protein_coding|5/7|c.1793-3T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1720;p3_1000G_AF=0.34345;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=19039;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.2704;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191354491;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1181,3225;ESP6500_AA_AGE=412.8+/-336.2;ESP6500_AA_GTC=165,851,1187;ESP6500_CDS_SIZES=NM_017694.3:2376;ESP6500_CG=1.3;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=72;ESP6500_EA_AC=2201,6399;ESP6500_EA_AGE=375.7+/-337.9;ESP6500_EA_GTC=272,1657,2371;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017694.3:intron;ESP6500_GL=MFSD6;ESP6500_GRCh38_POSITION=2:190489765;ESP6500_GTC=437,2508,3558;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017694.3:c.1793-3T>C;ESP6500_MAF=25.593,26.8044,26.0034;ESP6500_TAC=3382,9624	GT:AD:DP:GQ:PL	0/1:14,14:28:99:334,0,339
chr2	190489932	rs59123011	C	CCT	275.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=2.584;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59123011;dbSNPBuildID=129;ANN=CCT|intron_variant|MODIFIER|MFSD6|MFSD6|transcript|NM_017694.3|protein_coding|6/7|c.1891+66_1891+67insCT||||||;p3_1000G_AC=4388;p3_1000G_AF=0.876198;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=17995;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191354658;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:313,21,0
chr2	190509317	rs13429315	C	T	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.281;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=0.709;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13429315;dbSNPBuildID=121;ANN=T|splice_region_variant&intron_variant|LOW|NEMP2|NEMP2|transcript|NM_001142645.1|protein_coding|8/8|c.1131-5G>A||||||,T|splice_region_variant&intron_variant|LOW|NEMP2|NEMP2|transcript|NR_136298.1|pseudogene|8/8|n.1172-5G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=759;p3_1000G_AF=0.151558;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=19573;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191374043;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,7:19:99:154,0,353
chr2	190510649	rs6712426	G	A	881.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=4.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6712426;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|NEMP2|NEMP2|transcript|NM_001142645.1|protein_coding|7/8|c.954-112C>T||||||,A|intron_variant|MODIFIER|NEMP2|NEMP2|transcript|NR_136298.1|pseudogene|7/8|n.995-112C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3435;p3_1000G_AF=0.685903;p3_1000G_AFR_AF=0.4985;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=17568;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191375375;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:910,69,0
chr2	190514542	rs4586658	G	A	1078.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.585;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.274;SOR=0.68;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4586658;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|NEMP2|NEMP2|transcript|NM_001142645.1|protein_coding|7/9|c.864C>T|p.Ala288Ala|951/3637|864/1254|288/417||,A|non_coding_transcript_exon_variant|MODIFIER|NEMP2|NEMP2|transcript|NR_136298.1|pseudogene|7/9|n.905C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2667;p3_1000G_AF=0.532548;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=16189;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.5765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191379268;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=473,911;ESP6500_AA_GTC=86,301,305;ESP6500_CDS_SIZES=NM_001142645.1:1254;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=73;ESP6500_EA_AC=1822,1360;ESP6500_EA_GTC=520,782,289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001142645.1:coding-synonymous;ESP6500_GL=TMEM194B;ESP6500_GRCh38_POSITION=2:190514542;ESP6500_GTC=606,1083,594;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001142645.1:c.864C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001142645.1:p.(A288);ESP6500_MAF=42.7404,34.1763,49.7372;ESP6500_TAC=2295,2271	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1107,0,881
chr2	190519198	rs13395233	C	G	537.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.685;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.302;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.837;SOR=1.074;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13395233;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|NEMP2|NEMP2|transcript|NM_001142645.1|protein_coding|2/8|c.214-15G>C||||||,G|intron_variant|MODIFIER|NEMP2|NEMP2|transcript|NR_136298.1|pseudogene|2/8|n.301-15G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=619;p3_1000G_AF=0.123602;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=21635;p3_1000G_EAS_AF=0.1399;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191383924;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.138;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=123,1261;ESP6500_AA_GTC=8,107,577;ESP6500_CDS_SIZES=NM_001142645.1:1254;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=46;ESP6500_EA_AC=594,2588;ESP6500_EA_GTC=55,484,1052;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001142645.1:intron;ESP6500_GL=TMEM194B;ESP6500_GRCh38_POSITION=2:190519198;ESP6500_GTC=63,591,1629;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001142645.1:c.214-15G>C;ESP6500_MAF=18.6675,8.8873,15.703;ESP6500_TAC=717,3849	GT:AD:DP:GQ:PL	0/1:20,22:42:99:566,0,537
chr2	190525400	rs10931458	G	A	1620.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=2.259;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10931458;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|NEMP2|NEMP2|transcript|NM_001142645.1|protein_coding|1/8|c.98-22C>T||||||,A|intron_variant|MODIFIER|NEMP2|NEMP2|transcript|NR_136298.1|pseudogene|1/8|n.185-22C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3435;p3_1000G_AF=0.685903;p3_1000G_AFR_AF=0.4992;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=20409;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191390126;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.728;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=743,641;ESP6500_AA_GTC=210,323,159;ESP6500_CDS_SIZES=NM_001142645.1:1254;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=78;ESP6500_EA_AC=2426,756;ESP6500_EA_GTC=929,568,94;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001142645.1:intron;ESP6500_GL=TMEM194B;ESP6500_GRCh38_POSITION=2:190525400;ESP6500_GTC=1139,891,253;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001142645.1:c.98-22C>T;ESP6500_MAF=23.7586,46.315,30.5957;ESP6500_TAC=3169,1397	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1649,159,0
chr2	190534652	rs13412879	C	G	114.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.852;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13412879;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|NEMP2|NEMP2|transcript|NM_001142645.1|protein_coding|1/9|c.4G>C|p.Gly2Arg|91/3637|4/1254|2/417||,G|non_coding_transcript_exon_variant|MODIFIER|NEMP2|NEMP2|transcript|NR_136298.1|pseudogene|1/9|n.91G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=715;p3_1000G_AF=0.142772;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=11081;p3_1000G_EAS_AF=0.1389;p3_1000G_EUR_AF=0.1998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191399378;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:143,0,147
chr2	190534707	rs12693579	T	C	223.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12693579;dbSNPBuildID=121;ANN=C|5_prime_UTR_variant|MODIFIER|NEMP2|NEMP2|transcript|NM_001142645.1|protein_coding|1/9|c.-52A>G|||||52|,C|non_coding_transcript_exon_variant|MODIFIER|NEMP2|NEMP2|transcript|NR_136298.1|pseudogene|1/9|n.36A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3423;p3_1000G_AF=0.683506;p3_1000G_AFR_AF=0.4924;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=11403;p3_1000G_EAS_AF=0.7222;p3_1000G_EUR_AF=0.7724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191399433;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:252,24,0
chr2	190670585	rs2109957	T	C	431.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.43;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2109957;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_001321312.1|protein_coding|3/7|c.953+126T>C||||||,C|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_001321313.1|protein_coding|3/7|c.953+126T>C||||||,C|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_005966.3|protein_coding|5/9|c.953+126T>C||||||,C|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_001321314.1|protein_coding|2/6|c.953+126T>C||||||,C|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_001321315.1|protein_coding|2/5|c.953+126T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=972;p3_1000G_AF=0.194089;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=21588;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191535311;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:460,33,0
chr2	190673067	rs5837195	GT	G	208.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.355;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.792;SOR=0.85;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5837195;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_001321312.1|protein_coding|3/7|c.954-19delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_001321313.1|protein_coding|3/7|c.954-19delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_005966.3|protein_coding|5/9|c.954-19delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_001321314.1|protein_coding|2/6|c.954-19delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|NAB1|NAB1|transcript|NM_001321315.1|protein_coding|2/5|c.954-19delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1951;p3_1000G_AF=0.389577;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=19865;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.4026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191537793;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,12:17:74:246,0,74
chr2	190881278	rs375229200	C	T	117.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.26;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs375229200;dbSNPBuildID=138;ANN=T|missense_variant|MODERATE|GLS|GLS|transcript|NM_014905.4|protein_coding|1/18|c.194C>T|p.Ala65Val|458/4832|194/2010|65/669||,T|missense_variant|MODERATE|GLS|GLS|transcript|NM_001256310.1|protein_coding|1/15|c.194C>T|p.Ala65Val|458/4488|194/1797|65/598||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:145,12,0
chr2	190881350	rs143584207	A	C	199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.143;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143584207;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|GLS|GLS|transcript|NM_014905.4|protein_coding|1/18|c.266A>C|p.His89Pro|530/4832|266/2010|89/669||,C|missense_variant|MODERATE|GLS|GLS|transcript|NM_001256310.1|protein_coding|1/15|c.266A>C|p.His89Pro|530/4488|266/1797|89/598||;p3_1000G_AA=A|||;p3_1000G_AC=58;p3_1000G_AF=0.0115815;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=8363;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191746076;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:228,0,198
chr2	190913042	rs11363248;rs397782933;rs398080924	AT	A	188.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.59;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11363248;dbSNPBuildID=137,138,138;ANN=A|intron_variant|MODIFIER|GLS|GLS|transcript|NM_014905.4|protein_coding|7/17|c.1038+2732delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|GLS|GLS|transcript|NM_001256310.1|protein_coding|7/14|c.1038+2732delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4463;p3_1000G_AF=0.891174;p3_1000G_AFR_AF=0.8707;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=16683;p3_1000G_EAS_AF=0.8492;p3_1000G_EUR_AF=0.9245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191777768;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8814;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:226,24,0
chr2	190975250	rs1914408	C	T	752.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1914408;dbSNPBuildID=92;ANN=T|downstream_gene_variant|MODIFIER|STAT1|STAT1|transcript|NM_139266.2|protein_coding||c.*558G>A|||||287|,T|intron_variant|MODIFIER|STAT1|STAT1|transcript|NM_007315.3|protein_coding|23/24|c.2136-318G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=978;p3_1000G_AF=0.195288;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=18164;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191839976;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:781,69,0
chr2	190977033	rs2066804;333264	G	A	1175.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2066804;dbSNPBuildID=94;ANN=A|splice_region_variant&intron_variant|LOW|STAT1|STAT1|transcript|NM_007315.3|protein_coding|21/24|c.1874-8C>T||||||,A|splice_region_variant&intron_variant|LOW|STAT1|STAT1|transcript|NM_139266.2|protein_coding|21/22|c.1874-8C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1135;p3_1000G_AF=0.226637;p3_1000G_AFR_AF=0.1369;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=19471;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191841759;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=766,3640;ESP6500_AA_GTC=75,616,1512;ESP6500_CDS_SIZES=NM_139266.2:2139,NM_007315.3:2253;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=64;ESP6500_EA_AC=2061,6539;ESP6500_EA_GTC=276,1509,2515;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139266.2:intron,NM_007315.3:intron;ESP6500_GL=STAT1;ESP6500_GRCh38_POSITION=2:190977033;ESP6500_GTC=351,2125,4027;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_139266.2:c.1874-8C>T,NM_007315.3:c.1874-8C>T;ESP6500_MAF=23.9651,17.3854,21.7361;ESP6500_TAC=2827,10179;CLINVAR_AF_ESP=0.2174;CLINVAR_AF_EXAC=0.22600;CLINVAR_AF_TGP=0.2266;CLINVAR_ALLELEID=284358;CLINVAR_CLNDISDB=MedGen:CN239224;CLINVAR_CLNDN=Familial_Atypical_Mycobacteriosis,_Autosomal_Dominant;CLINVAR_CLNHGVS=NC_000002.12:g.190977033G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:53957;CLINVAR_GENEINFO=STAT1:6772;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2066804	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1204,111,0
chr2	190979104	rs2280235	A	G	953.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2280235;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|STAT1|STAT1|transcript|NM_007315.3|protein_coding|20/24|c.1728-103T>C||||||,G|intron_variant|MODIFIER|STAT1|STAT1|transcript|NM_139266.2|protein_coding|20/22|c.1728-103T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1291;p3_1000G_AF=0.257788;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=20566;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.2525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191843830;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:982,72,0
chr2	190983586	rs12477076	T	C	988.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12477076;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|STAT1|STAT1|transcript|NM_007315.3|protein_coding|17/24|c.1446+56A>G||||||,C|intron_variant|MODIFIER|STAT1|STAT1|transcript|NM_139266.2|protein_coding|17/22|c.1446+56A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17743;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191848312;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1017,90,0
chr2	191010309	rs36077929	C	T	677.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.761;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.346;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.067;SOR=1.151;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36077929;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|STAT1|STAT1|transcript|NM_007315.3|protein_coding|2/24|c.-1-305G>A||||||,T|intron_variant|MODIFIER|STAT1|STAT1|transcript|NM_139266.2|protein_coding|2/22|c.-1-305G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=821;p3_1000G_AF=0.163938;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=17975;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.1451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191875035;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,29:54:99:706,0,725
chr2	191030881	rs3024903	C	T	410.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.085;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.55;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3024903;dbSNPBuildID=102;ANN=T|splice_region_variant&intron_variant|LOW|LOC105373805|LOC105373805|transcript|NR_136318.1|pseudogene|1/2|n.31-4C>T||||||,T|intron_variant|MODIFIER|STAT4|STAT4|transcript|NM_001243835.1|protein_coding|23/23|c.2220+91G>A||||||,T|intron_variant|MODIFIER|STAT4|STAT4|transcript|NM_003151.3|protein_coding|23/23|c.2220+91G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=598;p3_1000G_AF=0.119409;p3_1000G_AFR_AF=0.0635;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=22162;p3_1000G_EAS_AF=0.1607;p3_1000G_EUR_AF=0.1123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191895607;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,14:29:99:439,0,491
chr2	191031315	rs3024900	C	T	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.856;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.04;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3024900;dbSNPBuildID=102;ANN=T|intron_variant|MODIFIER|LOC105373805|LOC105373805|transcript|NR_136318.1|pseudogene|2/2|n.243+218C>T||||||,T|intron_variant|MODIFIER|STAT4|STAT4|transcript|NM_001243835.1|protein_coding|22/23|c.2111+135G>A||||||,T|intron_variant|MODIFIER|STAT4|STAT4|transcript|NM_003151.3|protein_coding|22/23|c.2111+135G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=598;p3_1000G_AF=0.119409;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=20625;p3_1000G_EAS_AF=0.1607;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191896041;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:142,0,137
chr2	191058115	rs3024866;403495	G	A	395.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.27;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3024866;dbSNPBuildID=102;ANN=A|splice_region_variant&intron_variant|LOW|STAT4|STAT4|transcript|NM_001243835.1|protein_coding|12/23|c.1113-4C>T||||||,A|splice_region_variant&intron_variant|LOW|STAT4|STAT4|transcript|NM_003151.3|protein_coding|12/23|c.1113-4C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2486;p3_1000G_AF=0.496406;p3_1000G_AFR_AF=0.1437;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=14578;p3_1000G_EAS_AF=0.5188;p3_1000G_EUR_AF=0.7435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191922841;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1015,3391;ESP6500_AA_AGE=375.6+/-321.7;ESP6500_AA_GTC=114,787,1302;ESP6500_CDS_SIZES=NM_003151.3:2247,NM_001243835.1:2247;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=94;ESP6500_EA_AC=6400,2200;ESP6500_EA_AGE=710.3+/-405.8;ESP6500_EA_GTC=2408,1584,308;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003151.3:intron,NM_001243835.1:intron;ESP6500_GL=STAT4;ESP6500_GRCh38_POSITION=2:191058115;ESP6500_GTC=2522,2371,1610;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003151.3:c.1113-4C>T,NM_001243835.1:c.1113-4C>T;ESP6500_MAF=25.5814,23.0368,42.9879;ESP6500_TAC=7415,5591;CLINVAR_ALLELEID=389452;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.191058115G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=STAT4:6775;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3024866	GT:AD:DP:GQ:PL	1/1:0,14:14:42:424,42,0
chr2	191131792	rs1551443	T	C	531.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.543;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.437;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1551443;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|STAT4|STAT4|transcript|NM_001243835.1|protein_coding|3/23|c.273+14821A>G||||||,C|intron_variant|MODIFIER|STAT4|STAT4|transcript|NM_003151.3|protein_coding|3/23|c.273+14821A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3395;p3_1000G_AF=0.677915;p3_1000G_AFR_AF=0.5643;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=20687;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=191996518;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,20:36:99:560,0,456
chr2	191296113	rs4853574	A	T	652.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.57;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.16;SOR=0.874;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4853574;dbSNPBuildID=111;ANN=T|splice_region_variant&synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|3/31|c.138A>T|p.Thr46Thr|393/5095|138/3411|46/1136||,T|splice_region_variant&synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|3/29|c.138A>T|p.Thr46Thr|393/4921|138/3237|46/1078||,T|splice_region_variant&synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|3/31|c.138A>T|p.Thr46Thr|231/4933|138/3411|46/1136||;p3_1000G_AA=A|||;p3_1000G_AC=2550;p3_1000G_AF=0.509185;p3_1000G_AFR_AF=0.3313;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=17763;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.5835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192160839;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1649,2757;ESP6500_AA_AGE=503.5+/-365.6;ESP6500_AA_GTC=304,1041,858;ESP6500_CDS_SIZES=NM_012223.3:3237,NM_001161819.1:3411,NM_001130158.1:3411;ESP6500_CG=-6.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=159;ESP6500_EA_AC=4969,3631;ESP6500_EA_AGE=623.3+/-397.4;ESP6500_EA_GTC=1445,2079,776;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012223.3:coding-synonymous,NM_001161819.1:coding-synonymous,NM_001130158.1:coding-synonymous;ESP6500_GL=MYO1B;ESP6500_GRCh38_POSITION=2:191296113;ESP6500_GTC=1749,3120,1634;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_012223.3:c.138A>T,NM_001161819.1:c.138A>T,NM_001130158.1:c.138A>T;ESP6500_HGVS_PROTEIN_VAR=NM_012223.3:p.(T46),NM_001161819.1:p.(T46),NM_001130158.1:p.(T46);ESP6500_MAF=42.2209,37.4262,49.1158;ESP6500_TAC=6618,6388	GT:AD:DP:GQ:PL	0/1:26,24:50:99:681,0,681
chr2	191296149	rs4853575	C	T	610.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.317;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.379;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.44;SOR=0.506;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4853575;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|3/31|c.174C>T|p.Tyr58Tyr|429/5095|174/3411|58/1136||,T|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|3/29|c.174C>T|p.Tyr58Tyr|429/4921|174/3237|58/1078||,T|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|3/31|c.174C>T|p.Tyr58Tyr|267/4933|174/3411|58/1136||;p3_1000G_AA=C|||;p3_1000G_AC=2551;p3_1000G_AF=0.509385;p3_1000G_AFR_AF=0.3321;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=16911;p3_1000G_EAS_AF=0.6567;p3_1000G_EUR_AF=0.5835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192160875;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1650,2756;ESP6500_AA_AGE=505.1+/-366.0;ESP6500_AA_GTC=304,1042,857;ESP6500_CDS_SIZES=NM_012223.3:3237,NM_001161819.1:3411,NM_001130158.1:3411;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=146;ESP6500_EA_AC=4967,3633;ESP6500_EA_AGE=624.2+/-397.5;ESP6500_EA_GTC=1444,2079,777;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012223.3:coding-synonymous,NM_001161819.1:coding-synonymous,NM_001130158.1:coding-synonymous;ESP6500_GL=MYO1B;ESP6500_GRCh38_POSITION=2:191296149;ESP6500_GTC=1748,3121,1634;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012223.3:c.174C>T,NM_001161819.1:c.174C>T,NM_001130158.1:c.174C>T;ESP6500_HGVS_PROTEIN_VAR=NM_012223.3:p.(Y58),NM_001161819.1:p.(Y58),NM_001130158.1:p.(Y58);ESP6500_MAF=42.2442,37.4489,49.1235;ESP6500_TAC=6617,6389	GT:AD:DP:GQ:PL	0/1:27,25:52:99:639,0,789
chr2	191350107	rs67146186	A	T	218.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs67146186;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|6/30|c.499-55A>T||||||,T|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|6/28|c.499-55A>T||||||,T|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|6/30|c.499-55A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1742;p3_1000G_AF=0.347843;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=15989;p3_1000G_EAS_AF=0.3125;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192214833;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=354,1030;ESP6500_AA_GTC=41,272,379;ESP6500_CDS_SIZES=NM_012223.3:3237,NM_001161819.1:3411,NM_001130158.1:3411;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=75;ESP6500_EA_AC=1197,1983;ESP6500_EA_GTC=237,723,630;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012223.3:intron,NM_001161819.1:intron,NM_001130158.1:intron;ESP6500_GL=MYO1B;ESP6500_GRCh38_POSITION=2:191350107;ESP6500_GTC=278,995,1009;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_012223.3:c.499-55A>T,NM_001161819.1:c.499-55A>T,NM_001130158.1:c.499-55A>T;ESP6500_MAF=37.6415,25.578,33.9833;ESP6500_TAC=1551,3013	GT:AD:DP:GQ:PL	1/1:0,7:7:21:247,21,0
chr2	191350240	rs59642822	T	C	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.829;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.671;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59642822;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|7/30|c.562+15T>C||||||,C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|7/28|c.562+15T>C||||||,C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|7/30|c.562+15T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1776;p3_1000G_AF=0.354633;p3_1000G_AFR_AF=0.2716;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=15049;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.3668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192214966;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5133;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1234,3172;ESP6500_AA_AGE=409.3+/-334.9;ESP6500_AA_GTC=158,918,1127;ESP6500_CDS_SIZES=NM_012223.3:3237,NM_001161819.1:3411,NM_001130158.1:3411;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=74;ESP6500_EA_AC=3258,5340;ESP6500_EA_AGE=477.7+/-369.7;ESP6500_EA_GTC=647,1964,1688;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012223.3:intron,NM_001161819.1:intron,NM_001130158.1:intron;ESP6500_GL=MYO1B;ESP6500_GRCh38_POSITION=2:191350240;ESP6500_GTC=805,2882,2815;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012223.3:c.562+15T>C,NM_001161819.1:c.562+15T>C,NM_001130158.1:c.562+15T>C;ESP6500_MAF=37.8925,28.0073,34.5432;ESP6500_TAC=4492,8512	GT:AD:DP:GQ:PL	0/1:9,10:19:99:253,0,179
chr2	191360568	rs2138913	A	G	534.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2138913;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|7/30|c.563-63A>G||||||,G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|7/28|c.563-63A>G||||||,G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|7/30|c.563-63A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1910;p3_1000G_AF=0.38139;p3_1000G_AFR_AF=0.298;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=17428;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.4205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192225294;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5194;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:563,48,0
chr2	191360751	rs71403288	G	GTGTTGTTGT	321.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.431;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.64;ReadPosRankSum=-1.593;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71403288;dbSNPBuildID=130;ANN=GTGTTGTTGT|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|8/30|c.661+52_661+60dupTTGTTGTTG||||||INFO_REALIGN_3_PRIME,GTGTTGTTGT|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|8/28|c.661+52_661+60dupTTGTTGTTG||||||INFO_REALIGN_3_PRIME,GTGTTGTTGT|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|8/30|c.661+52_661+60dupTTGTTGTTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,8:9:73:359,0,73
chr2	191362182	rs2271769	G	C	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.583;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271769;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|8/30|c.662-86G>C||||||,C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|8/28|c.662-86G>C||||||,C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|8/30|c.662-86G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1881;p3_1000G_AF=0.375599;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=18247;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.4225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192226908;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:264,0,321
chr2	191383448	rs2883987	T	A	118.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs79897977;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|15/30|c.1353+106T>A||||||,A|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|15/28|c.1353+106T>A||||||,A|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|15/30|c.1353+106T>A||||||	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr2	191385817	rs13000398	A	G	347.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.22;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.46;ReadPosRankSum=-1.109;SOR=0.317;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13000398;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|15/30|c.1354-67A>G||||||,G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|15/28|c.1354-67A>G||||||,G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|15/30|c.1354-67A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3930;p3_1000G_AF=0.784744;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=22079;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192250543;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,12:17:99:376,0,158
chr2	191385842	rs13026888	T	C	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.03;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=0.809;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13026888;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|15/30|c.1354-42T>C||||||,C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|15/28|c.1354-42T>C||||||,C|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|15/30|c.1354-42T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3930;p3_1000G_AF=0.784744;p3_1000G_AFR_AF=0.3828;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=22101;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.9642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192250568;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2119,2287;ESP6500_AA_AGE=595.3+/-388.4;ESP6500_AA_GTC=531,1057,615;ESP6500_CDS_SIZES=NM_012223.3:3237,NM_001161819.1:3411,NM_001130158.1:3411;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=79;ESP6500_EA_AC=8355,245;ESP6500_EA_AGE=95.4+/-157.2;ESP6500_EA_GTC=4058,239,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012223.3:intron,NM_001161819.1:intron,NM_001130158.1:intron;ESP6500_GL=MYO1B;ESP6500_GRCh38_POSITION=2:191385842;ESP6500_GTC=4589,1296,618;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012223.3:c.1354-42T>C,NM_001161819.1:c.1354-42T>C,NM_001130158.1:c.1354-42T>C;ESP6500_MAF=2.8488,48.0935,19.4679;ESP6500_TAC=10474,2532	GT:AD:DP:GQ:PL	0/1:8,17:25:99:474,0,200
chr2	191386000	rs13018796	G	A	792.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.758;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.441;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13018796;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|16/31|c.1470G>A|p.Glu490Glu|1725/5095|1470/3411|490/1136||,A|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|16/29|c.1470G>A|p.Glu490Glu|1725/4921|1470/3237|490/1078||,A|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|16/31|c.1470G>A|p.Glu490Glu|1563/4933|1470/3411|490/1136||;p3_1000G_AA=G|||;p3_1000G_AC=3906;p3_1000G_AF=0.779952;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=18835;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.9642;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192250726;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9407;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2028,2378;ESP6500_AA_AGE=564.0+/-381.3;ESP6500_AA_GTC=487,1054,662;ESP6500_CDS_SIZES=NM_012223.3:3237,NM_001161819.1:3411,NM_001130158.1:3411;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=224;ESP6500_EA_AC=8355,245;ESP6500_EA_AGE=808.8+/-407.2;ESP6500_EA_GTC=4058,239,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012223.3:coding-synonymous,NM_001161819.1:coding-synonymous,NM_001130158.1:coding-synonymous;ESP6500_GL=MYO1B;ESP6500_GRCh38_POSITION=2:191386000;ESP6500_GTC=4545,1293,665;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012223.3:c.1470G>A,NM_001161819.1:c.1470G>A,NM_001130158.1:c.1470G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012223.3:p.(E490),NM_001161819.1:p.(E490),NM_001130158.1:p.(E490);ESP6500_MAF=2.8488,46.0281,20.1676;ESP6500_TAC=10383,2623	GT:AD:DP:GQ:PL	0/1:33,34:67:99:821,0,812
chr2	191408207	rs2271768	A	G	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=-0.609;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271768;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|25/30|c.2631+18A>G||||||,G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|23/28|c.2457+18A>G||||||,G|intron_variant|MODIFIER|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|25/30|c.2631+18A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=991;p3_1000G_AF=0.197883;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=18246;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.0368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192272933;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2050,2354;ESP6500_AA_AGE=605.8+/-390.6;ESP6500_AA_GTC=484,1082,636;ESP6500_CDS_SIZES=NM_012223.3:3237,NM_001161819.1:3411,NM_001130158.1:3411;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=73;ESP6500_EA_AC=257,8343;ESP6500_EA_AGE=807.0+/-407.2;ESP6500_EA_GTC=2,253,4045;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012223.3:intron,NM_001161819.1:intron,NM_001130158.1:intron;ESP6500_GL=MYO1B;ESP6500_GRCh38_POSITION=2:191408207;ESP6500_GTC=486,1335,4681;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012223.3:c.2457+18A>G,NM_001161819.1:c.2631+18A>G,NM_001130158.1:c.2631+18A>G;ESP6500_MAF=2.9884,46.5486,17.7407;ESP6500_TAC=2307,10697	GT:AD:DP:GQ:PL	0/1:8,14:22:99:418,0,207
chr2	191414601	rs2271767	T	C	1367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.5;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271767;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_001130158.1|protein_coding|29/31|c.3091T>C|p.Leu1031Leu|3346/5095|3091/3411|1031/1136||,C|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_012223.3|protein_coding|27/29|c.2917T>C|p.Leu973Leu|3172/4921|2917/3237|973/1078||,C|synonymous_variant|LOW|MYO1B|MYO1B|transcript|NM_001161819.1|protein_coding|29/31|c.3091T>C|p.Leu1031Leu|3184/4933|3091/3411|1031/1136||;p3_1000G_AA=T|||;p3_1000G_AC=3754;p3_1000G_AF=0.749601;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=17356;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.9632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192279327;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9376;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1633,2773;ESP6500_AA_AGE=502.4+/-365.2;ESP6500_AA_GTC=305,1023,875;ESP6500_CDS_SIZES=NM_012223.3:3237,NM_001161819.1:3411,NM_001130158.1:3411;ESP6500_CG=1.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=72;ESP6500_EA_AC=8333,267;ESP6500_EA_AGE=807.2+/-407.2;ESP6500_EA_GTC=4036,261,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012223.3:coding-synonymous,NM_001161819.1:coding-synonymous,NM_001130158.1:coding-synonymous;ESP6500_GL=MYO1B;ESP6500_GRCh38_POSITION=2:191414601;ESP6500_GTC=4341,1284,878;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012223.3:c.2917T>C,NM_001161819.1:c.3091T>C,NM_001130158.1:c.3091T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012223.3:p.(L973),NM_001161819.1:p.(L1031),NM_001130158.1:p.(L1031);ESP6500_MAF=3.1047,37.0631,23.3738;ESP6500_TAC=9966,3040	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1396,144,0
chr2	191836667	rs10167187	A	G	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.921;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.134;SOR=0.452;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10167187;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|SDPR|SDPR|transcript|NM_004657.5|protein_coding|2/2|c.534T>C|p.Gly178Gly|889/3250|534/1278|178/425||;p3_1000G_AA=G|||;p3_1000G_AC=3174;p3_1000G_AF=0.633786;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=17761;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.5795;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192701393;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2229,2177;ESP6500_AA_AGE=527.3+/-372.1;ESP6500_AA_GTC=578,1073,552;ESP6500_CDS_SIZES=NM_004657.5:1278;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=46;ESP6500_EA_AC=4996,3602;ESP6500_EA_AGE=502.7+/-375.8;ESP6500_EA_GTC=1481,2034,784;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004657.5:coding-synonymous;ESP6500_GL=SDPR;ESP6500_GRCh38_POSITION=2:191836667;ESP6500_GTC=2059,3107,1336;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004657.5:c.534T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004657.5:p.(G178);ESP6500_MAF=41.8935,49.4099,44.4402;ESP6500_TAC=7225,5779	GT:AD:DP:GQ:PL	0/1:26,24:50:99:644,0,653
chr2	191846436	rs4471838	A	C	1376.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.78;SOR=2.073;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4471838;dbSNPBuildID=111;ANN=C|splice_region_variant&intron_variant|LOW|SDPR|SDPR|transcript|NM_004657.5|protein_coding|1/1|c.483+7T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4533;p3_1000G_AF=0.905152;p3_1000G_AFR_AF=0.6596;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=20600;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192711162;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3101,1305;ESP6500_AA_AGE=410.6+/-335.4;ESP6500_AA_GTC=1106,889,208;ESP6500_CDS_SIZES=NM_004657.5:1278;ESP6500_CG=3.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=26;ESP6500_EA_AC=8586,14;ESP6500_EA_AGE=9.1+/-34.3;ESP6500_EA_GTC=4286,14,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004657.5:intron;ESP6500_GL=SDPR;ESP6500_GRCh38_POSITION=2:191846436;ESP6500_GTC=5392,903,208;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_004657.5:c.483+7T>G;ESP6500_MAF=0.1628,29.6187,10.1415;ESP6500_TAC=11687,1319	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,38:38:99:1|1:191846427_C_A:1405,114,0
chr2	191956172	rs7606017	T	G	360.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.8;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7606017;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TMEFF2|TMEFF2|transcript|NM_016192.3|protein_coding|8/9|c.869+83A>C||||||,G|intron_variant|MODIFIER|TMEFF2|TMEFF2|transcript|NM_001305134.1|protein_coding|8/9|c.869+83A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4144;p3_1000G_AF=0.827476;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.7738;p3_1000G_AN=5008;p3_1000G_DP=19530;p3_1000G_EAS_AF=0.9385;p3_1000G_EUR_AF=0.7823;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=192820898;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:389,33,0
chr2	192192011	rs3768702	C	A	1216.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.97;SOR=1.259;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3768702;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TMEFF2|TMEFF2|transcript|NM_016192.3|protein_coding|1/9|c.173-22G>T||||||,A|intron_variant|MODIFIER|TMEFF2|TMEFF2|transcript|NM_001305134.1|protein_coding|1/9|c.173-22G>T||||||,A|intron_variant|MODIFIER|TMEFF2|TMEFF2|transcript|NM_001305145.1|protein_coding|1/3|c.173-22G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1436;p3_1000G_AF=0.286741;p3_1000G_AFR_AF=0.1967;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=18885;p3_1000G_EAS_AF=0.3681;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=193056737;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3691;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=813,3593;ESP6500_AA_AGE=313.3+/-293.0;ESP6500_AA_GTC=79,655,1469;ESP6500_CDS_SIZES=NM_016192.2:1125;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=53;ESP6500_EA_AC=2270,6330;ESP6500_EA_AGE=375.2+/-337.7;ESP6500_EA_GTC=294,1682,2324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016192.2:intron;ESP6500_GL=TMEFF2;ESP6500_GRCh38_POSITION=2:192192011;ESP6500_GTC=373,2337,3793;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_016192.2:c.173-22G>T;ESP6500_MAF=26.3953,18.4521,23.7044;ESP6500_TAC=3083,9923	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1245,125,0
chr2	195679906	rs35514309	A	C	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.68;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.67;ReadPosRankSum=1.93;SOR=1.244;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35514309;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|SLC39A10|SLC39A10|transcript|NM_001127257.1|protein_coding|1/9|c.-11-126A>C||||||,C|intron_variant|MODIFIER|SLC39A10|SLC39A10|transcript|NM_020342.2|protein_coding|1/9|c.-11-126A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1598;p3_1000G_AF=0.319089;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=17078;p3_1000G_EAS_AF=0.3304;p3_1000G_EUR_AF=0.2654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196544630;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,10:16:99:359,0,167
chr2	195713589	rs761635413	C	CT	16.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=8.4;SOR=0.693;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs71960316;dbSNPBuildID=144;ANN=CT|intron_variant|MODIFIER|SLC39A10|SLC39A10|transcript|NM_001127257.1|protein_coding|6/9|c.1696+48dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|SLC39A10|SLC39A10|transcript|NM_020342.2|protein_coding|6/9|c.1696+48dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:6:53,6,0
chr2	195716571	rs3841858	T	TGTCTAG	352.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.672;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.222;SOR=0.495;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3841858;dbSNPBuildID=107;ANN=TGTCTAG|intron_variant|MODIFIER|SLC39A10|SLC39A10|transcript|NM_001127257.1|protein_coding|6/9|c.1697-64_1697-63insCTAGGT||||||INFO_REALIGN_3_PRIME,TGTCTAG|intron_variant|MODIFIER|SLC39A10|SLC39A10|transcript|NM_020342.2|protein_coding|6/9|c.1697-64_1697-63insCTAGGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3334;p3_1000G_AF=0.665735;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=17603;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.7316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196581295;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,8:18:99:390,0,763
chr2	195737858	rs75708451	A	AAAT	319.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=4.15;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.59;ReadPosRankSum=-0.071;SOR=2.636;INS;HET;VARTYPE=INS;dbSNP138_ID=rs75708451;dbSNPBuildID=131;ANN=AAAT|3_prime_UTR_variant|MODIFIER|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|65/65|c.*60_*62dupATT|||||62|,AAAT|downstream_gene_variant|MODIFIER|SLC39A10|SLC39A10|transcript|NM_001127257.1|protein_coding||c.*2817_*2818insAAT|||||157|,AAAT|downstream_gene_variant|MODIFIER|SLC39A10|SLC39A10|transcript|NM_020342.2|protein_coding||c.*2817_*2818insAAT|||||157|;p3_1000G_AC=1993;p3_1000G_AF=0.397963;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=20507;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.5984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196602582;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,8:13:99:357,0,207
chr2	195771938	rs1145939	C	G	339.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.742;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.43;SOR=0.191;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1145939;dbSNPBuildID=87;ANN=G|intron_variant|MODIFIER|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|60/64|c.11203-48G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3436;p3_1000G_AF=0.686102;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.6398;p3_1000G_AN=5008;p3_1000G_DP=19649;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.7535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196636662;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2798,852;ESP6500_AA_GTC=1068,662,95;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=49;ESP6500_EA_AC=6041,2139;ESP6500_EA_GTC=2213,1615,262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018897.2:intron;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:195771938;ESP6500_GTC=3281,2277,357;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.11203-48G>C;ESP6500_MAF=26.1491,23.3425,25.2832;ESP6500_TAC=8839,2991	GT:AD:DP:GQ:PL	0/1:11,11:22:99:368,0,403
chr2	195775942	rs139262062	G	C	497.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.324;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.18;SOR=0.606;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139262062;dbSNPBuildID=134;ANN=C|synonymous_variant|LOW|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|60/65|c.11106C>G|p.Thr3702Thr|11207/12394|11106/12075|3702/4024||;p3_1000G_AA=G|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18777;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196640666;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,23:50:99:526,0,735
chr2	195799273	rs7567285	T	C	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.52;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=0.531;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7567285;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|55/64|c.10353+23A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2301;p3_1000G_AF=0.459465;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=16280;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.6481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196663997;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1616,2076;ESP6500_AA_GTC=350,916,580;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=82;ESP6500_EA_AC=5232,2948;ESP6500_EA_GTC=1671,1890,529;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018897.2:intron;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:195799273;ESP6500_GTC=2021,2806,1109;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.10353+23A>G;ESP6500_MAF=36.0391,43.7703,42.3181;ESP6500_TAC=6848,5024	GT:AD:DP:GQ:PL	0/1:6,3:9:96:96,0,170
chr2	195808809	rs13411834;402748	A	G	2429.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13411834;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|53/65|c.9956T>C|p.Leu3319Pro|10057/12394|9956/12075|3319/4024||;p3_1000G_AA=G|||;p3_1000G_AC=4814;p3_1000G_AF=0.961262;p3_1000G_AFR_AF=0.8601;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=19094;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196673533;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3339,439;ESP6500_AA_GTC=1474,391,24;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=86;ESP6500_EA_AC=8247,3;ESP6500_EA_GTC=4122,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018897.2:missense;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:195808809;ESP6500_GS=98;ESP6500_GTC=5596,394,24;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.9956T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018897.2:p.(L3319P);ESP6500_MAF=0.0364,11.6199,3.6748;ESP6500_PH=benign:0.0;ESP6500_TAC=11586,442;CLINVAR_ALLELEID=389457;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.195808809A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH7:56171;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13411834	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2458,227,0
chr2	195816560	rs2280452	A	T	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.3;ReadPosRankSum=-0.842;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2280452;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|51/64|c.9761+68T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1880;p3_1000G_AF=0.375399;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=18293;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.5606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196681284;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:54:54,0,140
chr2	195817906	rs975417	C	A	131.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=0.887;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs975417;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|49/64|c.9292-77G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3351;p3_1000G_AF=0.669129;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=18233;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196682630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:99:160,0,103
chr2	195891811	rs11292337;rs397987192;rs539218059;402751	GA	G	438.74	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.877;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=23.09;ReadPosRankSum=1.56;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11292337;dbSNPBuildID=134,142,138;ANN=G|splice_region_variant&intron_variant|LOW|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|30/64|c.4897-8delT||||||;CLINVAR_ALLELEID=389464;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.195891812delA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=DNAH7:56171;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11292337	GT:AD:DP:GQ:PL	1/1:1,18:19:29:476,29,0
chr2	195926552	rs1489802;402753	T	G	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.138;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.66;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.52;SOR=1.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1489802;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|22/65|c.3486A>C|p.Ala1162Ala|3587/12394|3486/12075|1162/4024||;p3_1000G_AA=T|||;p3_1000G_AC=2404;p3_1000G_AF=0.480032;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=16510;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.6471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196791276;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=663,2965;ESP6500_AA_GTC=71,521,1222;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=-10.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=104;ESP6500_EA_AC=5083,3075;ESP6500_EA_GTC=1569,1945,565;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018897.2:coding-synonymous;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:195926552;ESP6500_GTC=1640,2466,1787;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.3486A>C;ESP6500_HGVS_PROTEIN_VAR=NM_018897.2:p.(A1162);ESP6500_MAF=37.6931,18.2745,48.7528;ESP6500_TAC=5746,6040;CLINVAR_ALLELEID=389459;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.195926552T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH7:56171;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1489802	GT:AD:DP:GQ:PL	0/1:11,13:24:99:293,0,235
chr2	195987187	rs10931715;402755	G	A	708.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.35;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10931715;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|14/65|c.1633C>T|p.Arg545Cys|1734/12394|1633/12075|545/4024||;p3_1000G_AA=G|||;p3_1000G_AC=2708;p3_1000G_AF=0.540735;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=16139;p3_1000G_EAS_AF=0.6359;p3_1000G_EUR_AF=0.664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196851911;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=934,2678;ESP6500_AA_GTC=131,672,1003;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=4.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=64;ESP6500_EA_AC=5239,2893;ESP6500_EA_GTC=1663,1913,490;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018897.2:missense;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:195987187;ESP6500_GS=180;ESP6500_GTC=1794,2585,1493;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.1633C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018897.2:p.(R545C);ESP6500_MAF=35.5755,25.8583,47.437;ESP6500_PH=benign:0.014;ESP6500_TAC=6173,5571;CLINVAR_ALLELEID=389470;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.195987187G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH7:56171;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10931715	GT:AD:DP:GQ:PL	1/1:0,25:25:75:737,75,0
chr2	196001696	rs6434811;402756	C	T	352.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6434811;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|11/65|c.1152G>A|p.Thr384Thr|1253/12394|1152/12075|384/4024||;p3_1000G_AA=C|||;p3_1000G_AC=3274;p3_1000G_AF=0.653754;p3_1000G_AFR_AF=0.1868;p3_1000G_AMR_AF=0.7867;p3_1000G_AN=5008;p3_1000G_DP=18058;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.9046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196866420;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1274,2490;ESP6500_AA_GTC=225,824,833;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=-5.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=88;ESP6500_EA_AC=7482,744;ESP6500_EA_GTC=3404,674,35;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018897.2:coding-synonymous;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:196001696;ESP6500_GTC=3629,1498,868;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.1152G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018897.2:p.(T384);ESP6500_MAF=9.0445,33.847,26.9725;ESP6500_TAC=8756,3234;CLINVAR_ALLELEID=389460;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.196001696C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH7:56171;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6434811	GT:AD:DP:GQ:PL	1/1:0,12:12:36:381,36,0
chr2	196026725	rs1072600	T	C	575.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.64;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=-0.128;SOR=0.998;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1072600;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|7/64|c.667+35A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2394;p3_1000G_AF=0.478035;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=17489;p3_1000G_EAS_AF=0.5536;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196891449;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=699,2917;ESP6500_AA_GTC=79,541,1188;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=47;ESP6500_EA_AC=5049,3065;ESP6500_EA_GTC=1561,1927,569;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018897.2:intron;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:196026725;ESP6500_GTC=1640,2468,1757;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.667+35A>G;ESP6500_MAF=37.7742,19.3308,49.0026;ESP6500_TAC=5748,5982	GT:AD:DP:GQ:PL	0/1:13,21:34:99:604,0,308
chr2	196047343	rs4850381;402757	A	G	584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.69;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=-0.111;SOR=0.474;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4850381;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|5/64|c.398+9T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3865;p3_1000G_AF=0.771765;p3_1000G_AFR_AF=0.7519;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=17555;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.7207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196912067;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2748,956;ESP6500_AA_GTC=1013,722,117;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=126;ESP6500_EA_AC=5663,2505;ESP6500_EA_GTC=1939,1785,360;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018897.2:intron;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:196047343;ESP6500_GTC=2952,2507,477;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.398+9T>C;ESP6500_MAF=30.6685,25.8099,29.1526;ESP6500_TAC=8411,3461;CLINVAR_ALLELEID=389467;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.196047343A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAH7:56171;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4850381	GT:AD:DP:GQ:PL	0/1:13,20:33:99:613,0,305
chr2	196051267	rs10174065	A	G	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.876;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10174065;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|DNAH7|DNAH7|transcript|NM_018897.2|protein_coding|2/64|c.79-18T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3857;p3_1000G_AF=0.770168;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=15352;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.7207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=196915991;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7229;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2575,1039;ESP6500_AA_GTC=941,693,173;ESP6500_CDS_SIZES=NM_018897.2:12075;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=122;ESP6500_EA_AC=5527,2611;ESP6500_EA_GTC=1937,1653,479;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018897.2:intron;ESP6500_GL=DNAH7;ESP6500_GRCh38_POSITION=2:196051267;ESP6500_GTC=2878,2346,652;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018897.2:c.79-18T>C;ESP6500_MAF=32.0841,28.7493,31.0585;ESP6500_TAC=8102,3650	GT:AD:DP:GQ:PL	0/1:4,5:9:96:145,0,96
chr2	196201165	rs3795921	A	G	411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.2;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795921;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|29/29|c.*112T>C|||||112|,G|3_prime_UTR_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|27/27|c.*112T>C|||||112|;p3_1000G_AA=G|||;p3_1000G_AC=3958;p3_1000G_AF=0.790335;p3_1000G_AFR_AF=0.5998;p3_1000G_AMR_AF=0.8444;p3_1000G_AN=5008;p3_1000G_DP=19447;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.7833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197065889;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:440,33,0
chr2	196201240	rs3820908	C	A	508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.024;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-0.877;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820908;dbSNPBuildID=107;ANN=A|3_prime_UTR_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|29/29|c.*37G>T|||||37|,A|3_prime_UTR_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|27/27|c.*37G>T|||||37|;p3_1000G_AA=A|||;p3_1000G_AC=3584;p3_1000G_AF=0.715655;p3_1000G_AFR_AF=0.5719;p3_1000G_AMR_AF=0.7666;p3_1000G_AN=5008;p3_1000G_DP=20888;p3_1000G_EAS_AF=0.8294;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197065964;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7699;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2540,1866;ESP6500_AA_AGE=534.8+/-374.1;ESP6500_AA_GTC=729,1082,392;ESP6500_CDS_SIZES=NM_020760.1:4719;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=59;ESP6500_EA_AC=6037,2561;ESP6500_EA_AGE=410.9+/-350.3;ESP6500_EA_GTC=2115,1807,377;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020760.1:utr-3;ESP6500_GL=HECW2;ESP6500_GRCh38_POSITION=2:196201240;ESP6500_GTC=2844,2889,769;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020760.1:c.*37G>T;ESP6500_MAF=29.786,42.3513,34.0434;ESP6500_TAC=8577,4427	GT:AD:DP:GQ:PL	0/1:15,19:34:99:537,0,423
chr2	196201451	rs4566380	T	G	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.12;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.506;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4566380;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|28/28|c.4608-63A>C||||||,G|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|26/26|c.3540-63A>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3629;p3_1000G_AF=0.724641;p3_1000G_AFR_AF=0.6014;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=17451;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197066175;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,12:25:99:380,0,367
chr2	196242035	rs2045277	T	C	982.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.7;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2045277;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|20/28|c.3650+49A>G||||||,C|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|18/26|c.2582+49A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3998;p3_1000G_AF=0.798323;p3_1000G_AFR_AF=0.615;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=20250;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.9215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197106759;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2828,1578;ESP6500_AA_AGE=472.0+/-356.2;ESP6500_AA_GTC=919,990,294;ESP6500_CDS_SIZES=NM_020760.1:4719;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=185;ESP6500_EA_AC=7953,647;ESP6500_EA_AGE=153.6+/-207.9;ESP6500_EA_GTC=3688,577,35;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020760.1:intron;ESP6500_GL=HECW2;ESP6500_GRCh38_POSITION=2:196242035;ESP6500_GTC=4607,1567,329;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020760.1:c.3650+49A>G;ESP6500_MAF=7.5233,35.8148,17.1075;ESP6500_TAC=10781,2225	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1011,93,0
chr2	196254005	rs4850690	C	T	1894.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=1.647;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4850690;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|HECW2|HECW2|transcript|NM_020760.2|protein_coding|19/29|c.3444G>A|p.Ser1148Ser|3627/6928|3444/4719|1148/1572||,T|synonymous_variant|LOW|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|17/27|c.2376G>A|p.Ser792Ser|3293/6594|2376/3651|792/1216||;p3_1000G_AA=T|||;p3_1000G_AC=4869;p3_1000G_AF=0.972244;p3_1000G_AFR_AF=0.9002;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=20679;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197118729;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3988,418;ESP6500_AA_AGE=205.8+/-227.6;ESP6500_AA_GTC=1810,368,25;ESP6500_CDS_SIZES=NM_020760.1:4719;ESP6500_CG=-11.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=117;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020760.1:coding-synonymous;ESP6500_GL=HECW2;ESP6500_GRCh38_POSITION=2:196254005;ESP6500_GTC=6107,371,25;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020760.1:c.3444G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020760.1:p.(S1148);ESP6500_MAF=0.0349,9.4871,3.237;ESP6500_TAC=12585,421	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1923,186,0
chr2	196257769	rs6731238	T	G	1508.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6731238;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|LOC101927482|LOC101927482|transcript|NR_110225.1|pseudogene||n.-2255T>G|||||2255|,G|upstream_gene_variant|MODIFIER|LOC101927482|LOC101927482|transcript|NR_110226.1|pseudogene||n.-2255T>G|||||2255|,G|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|18/28|c.3419+54A>C||||||,G|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|16/26|c.2351+54A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1993;p3_1000G_AF=0.397963;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=21603;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.6123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197122493;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=285,1099;ESP6500_AA_GTC=42,201,449;ESP6500_CDS_SIZES=NM_020760.1:4719;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=2003,1179;ESP6500_EA_GTC=630,743,218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020760.1:intron;ESP6500_GL=HECW2;ESP6500_GRCh38_POSITION=2:196257769;ESP6500_GTC=672,944,667;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_020760.1:c.3419+54A>C;ESP6500_MAF=37.0522,20.5925,49.8905;ESP6500_TAC=2288,2278	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1537,135,0
chr2	196271082	rs4850693	T	C	211.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4850693;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|17/28|c.3335+111A>G||||||,C|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|15/26|c.2267+111A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2686;p3_1000G_AF=0.536342;p3_1000G_AFR_AF=0.149;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=19695;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.6968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197135806;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7965;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:240,18,0
chr2	196278415	rs756473431	CA	C	12.01	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=5.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=-0.094;SOR=0.035;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|15/28|c.3135+112delT||||||,C|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|13/26|c.2067+112delT||||||	GT:AD:DP:GQ:PL	0/1:7,3:10:49:49,0,153
chr2	196306380	rs6729640	G	A	757.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.64;SOR=5.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6729640;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|13/28|c.2814+108C>T||||||,A|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|11/26|c.1746+108C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3014;p3_1000G_AF=0.601837;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=22091;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.671;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197171104;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:786,57,0
chr2	196306451	rs4241189	C	T	2111.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.25;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4241189;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|13/28|c.2814+37G>A||||||,T|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|11/26|c.1746+37G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3755;p3_1000G_AF=0.7498;p3_1000G_AFR_AF=0.5295;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=22000;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197171175;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2387,2019;ESP6500_AA_AGE=563.2+/-381.1;ESP6500_AA_GTC=665,1057,481;ESP6500_CDS_SIZES=NM_020760.1:4719;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=79;ESP6500_EA_AC=6490,2110;ESP6500_EA_AGE=363.5+/-333.2;ESP6500_EA_GTC=2468,1554,278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020760.1:intron;ESP6500_GL=HECW2;ESP6500_GRCh38_POSITION=2:196306451;ESP6500_GTC=3133,2611,759;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020760.1:c.2814+37G>A;ESP6500_MAF=24.5349,45.8239,31.7469;ESP6500_TAC=8877,4129	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,47:47:99:1|1:196306451_C_T:2140,144,0
chr2	196306459	rs12468199	C	T	2174.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12468199;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|13/28|c.2814+29G>A||||||,T|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|11/26|c.1746+29G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=21637;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.671;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197171183;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5695;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=932,3474;ESP6500_AA_AGE=346.9+/-309.2;ESP6500_AA_GTC=114,704,1385;ESP6500_CDS_SIZES=NM_020760.1:4719;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=86;ESP6500_EA_AC=5474,3126;ESP6500_EA_AGE=650.5+/-400.7;ESP6500_EA_GTC=1762,1950,588;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020760.1:intron;ESP6500_GL=HECW2;ESP6500_GRCh38_POSITION=2:196306459;ESP6500_GTC=1876,2654,1973;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020760.1:c.2814+29G>A;ESP6500_MAF=36.3488,21.153,49.2542;ESP6500_TAC=6406,6600	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,50:50:99:1|1:196306451_C_T:2203,150,0
chr2	196308092	rs2305567	G	A	594.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305567;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|HECW2|HECW2|transcript|NM_020760.2|protein_coding|10/28|c.2435-7C>T||||||,A|splice_region_variant&intron_variant|LOW|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|8/26|c.1367-7C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3754;p3_1000G_AF=0.749601;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=19124;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197172816;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7802;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2380,2026;ESP6500_AA_AGE=558.6+/-380.0;ESP6500_AA_GTC=660,1060,483;ESP6500_CDS_SIZES=NM_020760.1:4719;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=6487,2113;ESP6500_EA_AGE=358.5+/-331.2;ESP6500_EA_GTC=2465,1557,278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020760.1:intron;ESP6500_GL=HECW2;ESP6500_GRCh38_POSITION=2:196308092;ESP6500_GTC=3125,2617,761;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020760.1:c.2435-7C>T;ESP6500_MAF=24.5698,45.9828,31.8238;ESP6500_TAC=8867,4139	GT:AD:DP:GQ:PL	1/1:0,18:18:54:623,54,0
chr2	196319597	rs1531111	C	T	3225.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=0.973;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1531111;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|HECW2|HECW2|transcript|NM_020760.2|protein_coding|9/29|c.1293G>A|p.Pro431Pro|1476/6928|1293/4719|431/1572||,T|synonymous_variant|LOW|HECW2|HECW2|transcript|NM_001304840.1|protein_coding|7/27|c.225G>A|p.Pro75Pro|1142/6594|225/3651|75/1216||;p3_1000G_AA=C|||;p3_1000G_AC=3643;p3_1000G_AF=0.727436;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.8199;p3_1000G_AN=5008;p3_1000G_DP=22052;p3_1000G_EAS_AF=0.9653;p3_1000G_EUR_AF=0.831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197184321;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2035,2371;ESP6500_AA_AGE=564.5+/-381.5;ESP6500_AA_GTC=470,1095,638;ESP6500_CDS_SIZES=NM_020760.1:4719;ESP6500_CG=-11.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=59;ESP6500_EA_AC=6986,1614;ESP6500_EA_AGE=740.4+/-407.1;ESP6500_EA_GTC=2855,1276,169;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020760.1:coding-synonymous;ESP6500_GL=HECW2;ESP6500_GRCh38_POSITION=2:196319597;ESP6500_GTC=3325,2371,807;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020760.1:c.1293G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020760.1:p.(P431);ESP6500_MAF=18.7674,46.187,30.6397;ESP6500_TAC=9021,3985	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3254,309,0
chr2	196433498	rs2204641	T	C	1164.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.75;SOR=2.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2204641;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|1/28|c.-35-40A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4749;p3_1000G_AF=0.948283;p3_1000G_AFR_AF=0.8843;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=21254;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.9692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197298222;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,27:27:81:1|1:196433498_T_C:1193,81,0
chr2	196433508	rs2204640	C	T	1096.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.59;SOR=2.215;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2204640;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|HECW2|HECW2|transcript|NM_020760.2|protein_coding|1/28|c.-35-50G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4855;p3_1000G_AF=0.969449;p3_1000G_AFR_AF=0.9493;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=21604;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9692;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197298232;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,25:25:75:1|1:196433498_T_C:1125,75,0
chr2	196639821	rs1879128	C	G	161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.349;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1879128;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|CCDC150|CCDC150|transcript|NM_001080539.1|protein_coding|1/27|c.12+43C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3450;p3_1000G_AF=0.688898;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=15237;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.6958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197504545;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7025;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2120,1944;ESP6500_AA_GTC=570,980,482;ESP6500_CDS_SIZES=NM_001080539.1:3306;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=18;ESP6500_EA_AC=5848,2504;ESP6500_EA_GTC=2075,1698,403;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080539.1:intron;ESP6500_GL=CCDC150;ESP6500_GRCh38_POSITION=2:196639821;ESP6500_GTC=2645,2678,885;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080539.1:c.12+43C>G;ESP6500_MAF=29.9808,47.8346,35.8247;ESP6500_TAC=7968,4448	GT:AD:DP:GQ:PL	0/1:6,8:14:99:190,0,106
chr2	196666794	rs376590781	CA	C	175.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.381;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-0.924;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs376590781;dbSNPBuildID=138;ANN=C|frameshift_variant|HIGH|CCDC150|CCDC150|transcript|NM_001080539.1|protein_coding|7/28|c.849delA|p.Glu284fs|984/3685|849/3306|283/1101||INFO_REALIGN_3_PRIME;LOF=(CCDC150|CCDC150|1|1.00);ESP6500_AA_AC=178,205,3109;ESP6500_AA_GTC=1,0,176,1,203,1365;ESP6500_CDS_SIZES=NM_001080539.1:3306,NM_001080539.1:3306;ESP6500_CG=4.6;ESP6500_CP=0.7;ESP6500_DP=34;ESP6500_EA_AC=430,361,7013;ESP6500_EA_GTC=2,0,426,2,357,3115;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080539.1:frameshift,NM_001080539.1:frameshift;ESP6500_GL=CCDC150;ESP6500_GRCh38_POSITION=2:196666794;ESP6500_GTC=3,0,602,3,560,4480;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080539.1:c.839del1,NM_001080539.1:c.838_839insA;ESP6500_HGVS_PROTEIN_VAR=NM_001080539.1:p.(E284Kfs*14),NM_001080539.1:p.(E284Rfs*13);ESP6500_MAF=10.1358,10.9679,10.3931;ESP6500_TAC=608,566,10122	GT:AD:DP:GQ:PL	0/1:12,10:22:99:213,0,255
chr2	196669968	rs7590083	C	T	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.544;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.32;ReadPosRankSum=1.44;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7590083;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CCDC150|CCDC150|transcript|NM_001080539.1|protein_coding|8/27|c.936+92C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4472;p3_1000G_AF=0.892971;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=15943;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.8797;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197534692;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:318,0,166
chr2	196729479	rs2577580	G	C	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.667;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.27;SOR=0.595;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2577580;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CCDC150|CCDC150|transcript|NM_001080539.1|protein_coding|23/27|c.2751+92G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4148;p3_1000G_AF=0.828275;p3_1000G_AFR_AF=0.7458;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=18975;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197594203;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:184,0,213
chr2	196731038	rs2680967	G	A	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.242;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.21;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2680967;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CCDC150|CCDC150|transcript|NM_001080539.1|protein_coding|26/27|c.3069+93G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3316;p3_1000G_AF=0.662141;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19660;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.6948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197595762;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:109,0,106
chr2	196764807	rs113641244;rs56828869	TA	T	64.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs56828869,rs113641244;dbSNPBuildID=137,129;ANN=T|intron_variant|MODIFIER|GTF3C3|GTF3C3|transcript|NM_012086.4|protein_coding|17/17|c.2539-123delT||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:40:102,0,40
chr2	196872863	rs3795915	T	G	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.852;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.17;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795915;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_024989.3|protein_coding|17/26|c.1619+97A>C||||||,G|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_001321099.1|protein_coding|18/27|c.1097+97A>C||||||,G|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_001321100.1|protein_coding|16/25|c.452+97A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1380;p3_1000G_AF=0.275559;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=16164;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197737587;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:151,0,104
chr2	196885318	rs365342	G	A	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs365342;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_024989.3|protein_coding|12/26|c.1272+106C>T||||||,A|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_001321099.1|protein_coding|13/27|c.750+106C>T||||||,A|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_001321100.1|protein_coding|11/25|c.105+106C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=424;p3_1000G_AF=0.0846645;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=14477;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197750042;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,4:5:28:118,0,28
chr2	196897100	rs332300	T	C	146.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs332300;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_024989.3|protein_coding|7/26|c.927+31A>G||||||,C|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_001321099.1|protein_coding|8/27|c.405+31A>G||||||,C|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_001321100.1|protein_coding|7/25|c.-185+31A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1348;p3_1000G_AF=0.269169;p3_1000G_AFR_AF=0.5015;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=13411;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197761824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1850,2412;ESP6500_AA_GTC=401,1048,682;ESP6500_CDS_SIZES=NM_024989.3:2769;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=15;ESP6500_EA_AC=1710,6694;ESP6500_EA_GTC=216,1278,2708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024989.3:intron;ESP6500_GL=PGAP1;ESP6500_GRCh38_POSITION=2:196897100;ESP6500_GTC=617,2326,3390;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024989.3:c.927+31A>G;ESP6500_MAF=20.3475,43.4069,28.1067;ESP6500_TAC=3560,9106	GT:AD:DP:GQ:PL	1/1:0,5:5:15:175,15,0
chr2	196912865	rs12693800	C	T	397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.686;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-1.578;SOR=1.292;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12693800;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_024989.3|protein_coding|4/26|c.649+17G>A||||||,T|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_001321099.1|protein_coding|5/27|c.127+17G>A||||||,T|intron_variant|MODIFIER|PGAP1|PGAP1|transcript|NM_001321100.1|protein_coding|4/25|c.-463+17G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4560;p3_1000G_AF=0.910543;p3_1000G_AFR_AF=0.9153;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=17124;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.8767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197777589;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4043,363;ESP6500_AA_AGE=185.7+/-212.7;ESP6500_AA_GTC=1850,343,10;ESP6500_CDS_SIZES=NM_024989.3:2769;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=83;ESP6500_EA_AC=7444,1156;ESP6500_EA_AGE=236.2+/-268.5;ESP6500_EA_GTC=3220,1004,76;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024989.3:intron;ESP6500_GL=PGAP1;ESP6500_GRCh38_POSITION=2:196912865;ESP6500_GTC=5070,1347,86;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024989.3:c.649+17G>A;ESP6500_MAF=13.4419,8.2388,11.6792;ESP6500_TAC=11487,1519	GT:AD:DP:GQ:PL	0/1:9,14:23:99:426,0,244
chr2	196989509	rs144034091	T	TAC	85.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.915;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=7.782;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-0.475;SOR=0.027;INS;HET;VARTYPE=INS;dbSNP138_ID=rs144034091;dbSNPBuildID=134;ANN=TAC|3_prime_UTR_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|28/28|c.*80_*81dupGT|||||81|;p3_1000G_AC=3569;p3_1000G_AF=0.71266;p3_1000G_AFR_AF=0.6014;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=22068;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.7038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197854233;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.774;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,4:9:99:123,0,151
chr2	196998490	rs1966703	C	T	205.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1966703;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|24/27|c.2666-71G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3468;p3_1000G_AF=0.692492;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=18018;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197863214;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8569;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:234,21,0
chr2	196999127	rs4850742	C	T	154.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4850742;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|23/27|c.2520-75G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4629;p3_1000G_AF=0.924321;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=20116;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197863851;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:183,15,0
chr2	197000323	rs2305251	C	T	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.362;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=-0.114;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305251;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|23/27|c.2519+96G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=523;p3_1000G_AF=0.104433;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=17290;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197865047;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,2:11:42:42,0,346
chr2	197001746	rs12478175	T	A	843.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.1;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12478175;dbSNPBuildID=120;ANN=A|splice_region_variant&intron_variant|LOW|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|22/27|c.2435+7A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3734;p3_1000G_AF=0.745607;p3_1000G_AFR_AF=0.3555;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=19557;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.8469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197866470;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8712;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2001,2405;ESP6500_AA_AGE=559.0+/-380.1;ESP6500_AA_GTC=457,1087,659;ESP6500_CDS_SIZES=NM_001195144.1:2982;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=98;ESP6500_EA_AC=7302,1298;ESP6500_EA_AGE=758.0+/-407.5;ESP6500_EA_GTC=3094,1114,92;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001195144.1:intron;ESP6500_GL=ANKRD44;ESP6500_GRCh38_POSITION=2:197001746;ESP6500_GTC=3551,2201,751;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001195144.1:c.2435+7A>T;ESP6500_MAF=15.093,45.4153,28.4715;ESP6500_TAC=9303,3703	GT:AD:DP:GQ:PL	1/1:0,29:29:87:872,87,0
chr2	197008003	rs397825271;rs57048274	T	TTCTC	412.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs57048274;dbSNPBuildID=137,138;ANN=TTCTC|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|19/27|c.2013-84_2013-81dupGAGA||||||;p3_1000G_AC=4631;p3_1000G_AF=0.92472;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=20356;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8926;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197872727;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:450,30,0
chr2	197008839	rs7565685	T	C	1066.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=1.547;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7565685;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|19/27|c.2012+105A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4630;p3_1000G_AF=0.924521;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=19252;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197873563;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1095,108,0
chr2	197025277	rs62185248	C	T	162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.067;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.65;ReadPosRankSum=-0.533;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62185248;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|16/27|c.1651-10G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=517;p3_1000G_AF=0.103235;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=20533;p3_1000G_EAS_AF=0.1538;p3_1000G_EUR_AF=0.1312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197890001;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=127,4279;ESP6500_AA_AGE=93.0+/-131.7;ESP6500_AA_GTC=3,121,2079;ESP6500_CDS_SIZES=NM_001195144.1:2982;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=82;ESP6500_EA_AC=1123,7477;ESP6500_EA_AGE=231.2+/-265.3;ESP6500_EA_GTC=65,993,3242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001195144.1:intron;ESP6500_GL=ANKRD44;ESP6500_GRCh38_POSITION=2:197025277;ESP6500_GTC=68,1114,5321;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001195144.1:c.1651-10G>A;ESP6500_MAF=13.0581,2.8824,9.6109;ESP6500_TAC=1250,11756	GT:AD:DP:GQ:PL	0/1:25,10:35:99:191,0,644
chr2	197088648	rs146161383;rs368814029;rs67067011	TAAGTC	T	547.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.73;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs368814029,rs146161383;dbSNPBuildID=134,138;ANN=T|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|12/27|c.1247+58_1247+62delGACTT||||||;p3_1000G_AC=4128;p3_1000G_AF=0.824281;p3_1000G_AFR_AF=0.4697;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=17769;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197953372;p3_1000G_GRCH37_REF=TAAGTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=INDEL;ESP6500_AA_AC=2250,1998;ESP6500_AA_GTC=633,984,507;ESP6500_CDS_SIZES=NM_001195144.1:2982;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=46;ESP6500_EA_AC=7711,359;ESP6500_EA_GTC=3706,299,30;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001195144.1:intron;ESP6500_GL=ANKRD44;ESP6500_GRCh38_POSITION=2:197088648;ESP6500_GTC=4339,1283,537;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001195144.1:c.1247+58_1247+62del5;ESP6500_MAF=4.4486,47.0339,19.1346;ESP6500_TAC=9961,2357	GT:AD:DP:GQ:PL	1/1:0,13:13:39:585,39,0
chr2	197090056	rs4300850	A	G	850.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.51;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4300850;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|10/27|c.1101-24T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4549;p3_1000G_AF=0.908347;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=22848;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197954780;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3547,859;ESP6500_AA_AGE=336.5+/-304.4;ESP6500_AA_GTC=1437,673,93;ESP6500_CDS_SIZES=NM_001195144.1:2982;ESP6500_CG=1.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=82;ESP6500_EA_AC=8261,339;ESP6500_EA_AGE=116.3+/-176.0;ESP6500_EA_GTC=3969,323,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001195144.1:intron;ESP6500_GL=ANKRD44;ESP6500_GRCh38_POSITION=2:197090056;ESP6500_GTC=5406,996,101;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001195144.1:c.1101-24T>C;ESP6500_MAF=3.9419,19.4961,9.2111;ESP6500_TAC=11808,1198	GT:AD:DP:GQ:PL	1/1:0,27:27:81:879,81,0
chr2	197121324	rs2697270	T	C	1550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33;SOR=1.814;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2697270;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|8/27|c.906+8A>G||||||,C|splice_region_variant&intron_variant|LOW|ANKRD44|ANKRD44|transcript|NM_153697.2|protein_coding|8/9|c.906+8A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4588;p3_1000G_AF=0.916134;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=23445;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.9622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197986048;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3562,844;ESP6500_AA_AGE=746.5+/-411.8;ESP6500_AA_GTC=1437,688,78;ESP6500_CDS_SIZES=NM_153697.2:1104,NM_001195144.1:2982;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=100;ESP6500_EA_AC=8316,284;ESP6500_EA_AGE=806.6+/-407.2;ESP6500_EA_GTC=4023,270,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153697.2:intron,NM_001195144.1:intron;ESP6500_GL=ANKRD44;ESP6500_GRCh38_POSITION=2:197121324;ESP6500_GTC=5460,958,85;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153697.2:c.906+8A>G,NM_001195144.1:c.906+8A>G;ESP6500_MAF=3.3023,19.1557,8.6729;ESP6500_TAC=11878,1128	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1579,140,0
chr2	197125221	rs2579395	T	C	267.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2579395;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|6/27|c.550+160A>G||||||,C|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_153697.2|protein_coding|6/9|c.550+160A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4590;p3_1000G_AF=0.916534;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.9467;p3_1000G_AN=5008;p3_1000G_DP=18194;p3_1000G_EAS_AF=0.9881;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197989945;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9632;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:296,21,0
chr2	197125785	rs2579394	G	A	1041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2579394;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|5/27|c.462+52C>T||||||,A|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_153697.2|protein_coding|5/9|c.462+52C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3410;p3_1000G_AF=0.680911;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=22012;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.8002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=197990509;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=564,1188;ESP6500_AA_GTC=93,378,405;ESP6500_CDS_SIZES=NM_153697.2:1104,NM_001195144.1:2982;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=3177,805;ESP6500_EA_GTC=1263,651,77;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153697.2:intron,NM_001195144.1:intron;ESP6500_GL=ANKRD44;ESP6500_GRCh38_POSITION=2:197125785;ESP6500_GTC=1356,1029,482;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153697.2:c.462+52C>T,NM_001195144.1:c.462+52C>T;ESP6500_MAF=20.216,32.1918,34.7576;ESP6500_TAC=3741,1993	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1070,93,0
chr2	197136595	rs3731569	A	G	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.376;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=-0.781;SOR=0.596;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731569;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|4/28|c.258T>C|p.Ser86Ser|451/6104|258/2982|86/993||,G|synonymous_variant|LOW|ANKRD44|ANKRD44|transcript|NM_153697.2|protein_coding|4/10|c.258T>C|p.Ser86Ser|451/1638|258/1104|86/367||;p3_1000G_AA=a|||;p3_1000G_AC=1633;p3_1000G_AF=0.326078;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=19780;p3_1000G_EAS_AF=0.2153;p3_1000G_EUR_AF=0.2247;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198001319;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2245,2161;ESP6500_AA_AGE=593.1+/-387.9;ESP6500_AA_GTC=584,1077,542;ESP6500_CDS_SIZES=NM_153697.2:1104,NM_001195144.1:2982;ESP6500_CG=0.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=83;ESP6500_EA_AC=2018,6582;ESP6500_EA_AGE=353.0+/-328.9;ESP6500_EA_GTC=227,1564,2509;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153697.2:coding-synonymous,NM_001195144.1:coding-synonymous;ESP6500_GL=ANKRD44;ESP6500_GRCh38_POSITION=2:197136595;ESP6500_GTC=811,2641,3051;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153697.2:c.258T>C,NM_001195144.1:c.258T>C;ESP6500_HGVS_PROTEIN_VAR=NM_153697.2:p.(S86),NM_001195144.1:p.(S86);ESP6500_MAF=23.4651,49.0468,32.7772;ESP6500_TAC=4263,8743	GT:AD:DP:GQ:PL	0/1:29,7:36:99:106,0,755
chr2	197136719	rs2579387	C	T	546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.78;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2579387;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|3/27|c.191-57G>A||||||,T|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_153697.2|protein_coding|3/9|c.191-57G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3929;p3_1000G_AF=0.784545;p3_1000G_AFR_AF=0.351;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=19662;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.9334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198001443;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9325;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=625,759;ESP6500_AA_GTC=135,355,202;ESP6500_CDS_SIZES=NM_153697.2:1104,NM_001195144.1:2982;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=2989,193;ESP6500_EA_GTC=1404,181,6;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153697.2:intron,NM_001195144.1:intron;ESP6500_GL=ANKRD44;ESP6500_GRCh38_POSITION=2:197136719;ESP6500_GTC=1539,536,208;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153697.2:c.191-57G>A,NM_001195144.1:c.191-57G>A;ESP6500_MAF=6.0654,45.159,20.8498;ESP6500_TAC=3614,952	GT:AD:DP:GQ:PL	1/1:0,19:19:57:575,57,0
chr2	197147180	rs2249470	G	A	689.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.35;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2249470;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|2/27|c.112-75C>T||||||,A|intron_variant|MODIFIER|ANKRD44|ANKRD44|transcript|NM_153697.2|protein_coding|2/9|c.112-75C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=4346;p3_1000G_AF=0.867812;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=18721;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198011904;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:718,66,0
chr2	197310573	rs10931780	G	C	685.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=1.519;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10931780;dbSNPBuildID=120;ANN=C|splice_region_variant&intron_variant|LOW|ANKRD44|ANKRD44|transcript|NM_001195144.1|protein_coding|1/27|c.27+5C>G||||||,C|splice_region_variant&intron_variant|LOW|ANKRD44|ANKRD44|transcript|NM_153697.2|protein_coding|1/9|c.27+5C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2568;p3_1000G_AF=0.51278;p3_1000G_AFR_AF=0.7413;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=4202;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198175297;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:714,72,0
chr2	197402219	rs788019	C	T	1761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=2.221;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs788019;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SF3B1|SF3B1|transcript|NM_012433.3|protein_coding|14/24|c.2078-89G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4983;p3_1000G_AF=0.995008;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20991;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198266943;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1790,168,0
chr2	197500923	rs80032346	G	GT	178.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.736;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=21.553;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.337;SOR=1.389;INS;HET;VARTYPE=INS;dbSNP138_ID=rs80032346;dbSNPBuildID=131;ANN=GT|upstream_gene_variant|MODIFIER|HSPD1|HSPD1|transcript|NM_002156.4|protein_coding||c.-2076dupA|||||1008|,GT|upstream_gene_variant|MODIFIER|HSPD1|HSPD1|transcript|NM_199440.1|protein_coding||c.-2076dupA|||||650|,GT|intron_variant|MODIFIER|HSPE1|HSPE1|transcript|NM_002157.2|protein_coding|1/3|c.4-150dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|HSPE1-MOB4|HSPE1-MOB4|transcript|NM_001202485.1|protein_coding|1/8|c.4-150dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=37;p3_1000G_AF=0.00738818;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19499;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=198365647;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,7:15:99:216,0,252
chr2	197640498	rs1384229372	C	T	11.12	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=2;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.58;MQRankSum=-0.674;QD=5.56;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|RFTN2|RFTN2|transcript|NM_144629.2|protein_coding|3/8|c.438+3660G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,1:2:39:0|1:197640498_C_T:39,0,101
chr2	197640505	rs1406071839	A	C	11.12	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=2;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=40.58;MQRankSum=-0.674;QD=5.56;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|RFTN2|RFTN2|transcript|NM_144629.2|protein_coding|3/8|c.438+3653T>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,1:2:39:0|1:197640498_C_T:39,0,101
chr2	197640530	rs572739920	G	C	29.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.66;MQRankSum=-1.383;QD=7.44;ReadPosRankSum=0.431;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|RFTN2|RFTN2|transcript|NM_144629.2|protein_coding|3/8|c.438+3628C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:2,2:4:58:0|1:197640498_C_T:58,0,120
chr2	199308961	rs10153730	T	G	1892.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=2.393;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10153730;dbSNPBuildID=119;ANN=G|splice_region_variant&intron_variant|LOW|SATB2|SATB2|transcript|NM_001172509.1|protein_coding|9/10|c.1543-4A>C||||||,G|splice_region_variant&intron_variant|LOW|SATB2|SATB2|transcript|NM_001172517.1|protein_coding|10/11|c.1543-4A>C||||||,G|splice_region_variant&intron_variant|LOW|SATB2|SATB2|transcript|NM_015265.3|protein_coding|10/11|c.1543-4A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4662;p3_1000G_AF=0.930911;p3_1000G_AFR_AF=0.7466;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=18440;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200173684;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3539,867;ESP6500_AA_AGE=335.2+/-303.8;ESP6500_AA_GTC=1408,723,72;ESP6500_CDS_SIZES=NM_015265.3:2202,NM_001172517.1:2202,NM_001172509.1:2202;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=39;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015265.3:intron,NM_001172517.1:intron,NM_001172509.1:intron;ESP6500_GL=SATB2;ESP6500_GRCh38_POSITION=2:199308961;ESP6500_GTC=5704,727,72;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_015265.3:c.1543-4A>C,NM_001172517.1:c.1543-4A>C,NM_001172509.1:c.1543-4A>C;ESP6500_MAF=0.0465,19.6777,6.6969;ESP6500_TAC=12135,871	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1921,156,0
chr2	199380522	rs1348813	C	G	143.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.207;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-1.591;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1348813;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_001172509.1|protein_coding|4/10|c.474-35G>C||||||,G|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_001172517.1|protein_coding|5/11|c.474-35G>C||||||,G|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_015265.3|protein_coding|5/11|c.474-35G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2491;p3_1000G_AF=0.497404;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=16702;p3_1000G_EAS_AF=0.3601;p3_1000G_EUR_AF=0.7545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200245245;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1701,2705;ESP6500_AA_AGE=511.7+/-367.9;ESP6500_AA_GTC=320,1061,822;ESP6500_CDS_SIZES=NM_015265.3:2202,NM_001172517.1:2202,NM_001172509.1:2202;ESP6500_CG=3.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=46;ESP6500_EA_AC=6480,2120;ESP6500_EA_AGE=705.9+/-405.5;ESP6500_EA_GTC=2438,1604,258;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015265.3:intron,NM_001172517.1:intron,NM_001172509.1:intron;ESP6500_GL=SATB2;ESP6500_GRCh38_POSITION=2:199380522;ESP6500_GTC=2758,2665,1080;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015265.3:c.474-35G>C,NM_001172517.1:c.474-35G>C,NM_001172509.1:c.474-35G>C;ESP6500_MAF=24.6512,38.6064,37.0983;ESP6500_TAC=8181,4825	GT:AD:DP:GQ:PL	0/1:17,7:24:99:172,0,535
chr2	199381595	rs2305262	C	T	180.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.306;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=9.084;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.828;SOR=3.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305262;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_001172509.1|protein_coding|4/10|c.473+99G>A||||||,T|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_001172517.1|protein_coding|5/11|c.473+99G>A||||||,T|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_015265.3|protein_coding|5/11|c.473+99G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2027;p3_1000G_AF=0.404752;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=19102;p3_1000G_EAS_AF=0.6399;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200246318;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,7:21:99:209,0,410
chr2	199433590	rs7596597	A	G	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7596597;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_001172509.1|protein_coding|2/10|c.170-76T>C||||||,G|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_001172517.1|protein_coding|3/11|c.170-76T>C||||||,G|intron_variant|MODIFIER|SATB2|SATB2|transcript|NM_015265.3|protein_coding|3/11|c.170-76T>C||||||,G|intron_variant|MODIFIER|SATB2|SATB2|transcript|NR_134967.1|pseudogene|2/4|n.987-76T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4667;p3_1000G_AF=0.931909;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=18712;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200298313;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:535,45,0
chr2	199760858	rs2346586	T	C	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.911;SOR=0.921;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2346586;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|FTCDNL1|FTCDNL1|transcript|NR_034096.1|pseudogene|3/3|n.653-23A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2342;p3_1000G_AF=0.467652;p3_1000G_AFR_AF=0.1263;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=17582;p3_1000G_EAS_AF=0.5952;p3_1000G_EUR_AF=0.661;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200625581;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,19:43:99:491,0,650
chr2	199812902	rs2030653	C	T	136.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.01;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2030653;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|FTCDNL1|FTCDNL1|transcript|NR_034096.1|pseudogene|3/3|n.652+33173G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4296;p3_1000G_AF=0.857827;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=18778;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.8091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200677625;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9029;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:164,12,0
chr2	199845983	rs769960	T	G	326.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs769960;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|FTCDNL1|FTCDNL1|transcript|NR_034096.1|pseudogene|3/3|n.652+92A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4035;p3_1000G_AF=0.805711;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=17776;p3_1000G_EAS_AF=0.8333;p3_1000G_EUR_AF=0.659;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200710706;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8569;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:355,30,0
chr2	199955782	rs281766	T	G	260.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.71;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs281766;dbSNPBuildID=79;ANN=G|5_prime_UTR_variant|MODIFIER|C2orf47|C2orf47|transcript|NM_024520.2|protein_coding|2/6|c.-17T>G|||||17|,G|upstream_gene_variant|MODIFIER|TYW5|TYW5|transcript|NM_001039693.2|protein_coding||c.-312A>C|||||46|,G|upstream_gene_variant|MODIFIER|TYW5|TYW5|transcript|NR_004862.1|pseudogene||n.-46A>C|||||46|,G|upstream_gene_variant|MODIFIER|TYW5|TYW5|transcript|NR_109905.1|pseudogene||n.-46A>C|||||46|,G|upstream_gene_variant|MODIFIER|TYW5|TYW5|transcript|NR_109906.1|pseudogene||n.-46A>C|||||46|,G|upstream_gene_variant|MODIFIER|TYW5|TYW5|transcript|NR_109907.1|pseudogene||n.-46A>C|||||46|;p3_1000G_AA=G|||;p3_1000G_AC=4359;p3_1000G_AF=0.870407;p3_1000G_AFR_AF=0.8933;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=16641;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.8211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200820505;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3874,472;ESP6500_AA_GTC=1728,418,27;ESP6500_CDS_SIZES=NM_024520.2:876;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=25;ESP6500_EA_AC=7052,1522;ESP6500_EA_GTC=2896,1260,131;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024520.2:utr-5;ESP6500_GL=C2orf47;ESP6500_GRCh38_POSITION=2:199955782;ESP6500_GTC=4624,1678,158;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_024520.2:c.-17T>G;ESP6500_MAF=17.7513,10.8606,15.4334;ESP6500_TAC=10926,1994	GT:AD:DP:GQ:PL	1/1:0,11:11:33:289,33,0
chr2	200008421	rs113489455;rs60956421	AATACAAAAAAAACTTG	A	682.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=1.244;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs60956421,rs113489455;dbSNPBuildID=132,129;ANN=A|intergenic_region|MODIFIER|C2orf47-SPATS2L|C2orf47-SPATS2L|intergenic_region|C2orf47-SPATS2L|||n.200008422_200008437delATACAAAAAAAACTTG||||||;p3_1000G_AC=3985;p3_1000G_AF=0.795727;p3_1000G_AFR_AF=0.826;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=18745;p3_1000G_EAS_AF=0.8115;p3_1000G_EUR_AF=0.672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=200873144;p3_1000G_GRCH37_REF=AATACAAAAAAAACTTG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8599;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,16:16:48:720,48,0
chr2	200329556	rs3739119	C	A	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.418;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.596;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739119;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001282744.1|protein_coding|2/12|c.68+76C>A||||||,A|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001282735.1|protein_coding|2/12|c.-23+76C>A||||||,A|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001282743.1|protein_coding|2/11|c.-142+76C>A||||||,A|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_015535.2|protein_coding|2/12|c.-23+76C>A||||||,A|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001100422.1|protein_coding|2/12|c.-23+76C>A||||||,A|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001100424.1|protein_coding|2/11|c.-23+76C>A||||||,A|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001100423.1|protein_coding|2/12|c.-23+76C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2736;p3_1000G_AF=0.546326;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=16405;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201194279;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,9:22:99:265,0,454
chr2	200389326	rs3820881	G	C	1917.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3820881;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001282744.1|protein_coding|3/12|c.129+43G>C||||||,C|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001282735.1|protein_coding|3/12|c.39+43G>C||||||,C|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001282743.1|protein_coding|2/11|c.-141-22985G>C||||||,C|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_015535.2|protein_coding|3/12|c.39+43G>C||||||,C|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001100422.1|protein_coding|3/12|c.39+43G>C||||||,C|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001100424.1|protein_coding|3/11|c.39+43G>C||||||,C|intron_variant|MODIFIER|SPATS2L|SPATS2L|transcript|NM_001100423.1|protein_coding|3/12|c.39+43G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3596;p3_1000G_AF=0.718051;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=20557;p3_1000G_EAS_AF=0.8095;p3_1000G_EUR_AF=0.8082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201254049;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1816,1948;ESP6500_AA_GTC=444,928,510;ESP6500_CDS_SIZES=NM_015535.2:1677,NM_001100424.1:1470,NM_001100423.1:1677,NM_001100422.1:1677;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=49;ESP6500_EA_AC=6716,1478;ESP6500_EA_GTC=2750,1216,131;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015535.2:intron,NM_001100424.1:intron,NM_001100423.1:intron,NM_001100422.1:intron;ESP6500_GL=SPATS2L;ESP6500_GRCh38_POSITION=2:200389326;ESP6500_GTC=3194,2144,641;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015535.2:c.39+43G>C,NM_001100424.1:c.39+43G>C,NM_001100423.1:c.39+43G>C,NM_001100422.1:c.39+43G>C;ESP6500_MAF=18.0376,48.2465,28.6503;ESP6500_TAC=8532,3426	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1946,192,0
chr2	200490212	rs3795969	C	G	909.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.771;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=3.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.89;SOR=0.384;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795969;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|KCTD18|KCTD18|transcript|NM_001321547.1|protein_coding|7/7|c.1169G>C|p.Cys390Ser|1328/2588|1169/1281|390/426||,G|missense_variant|MODERATE|KCTD18|KCTD18|transcript|NM_001321548.1|protein_coding|7/7|c.542G>C|p.Cys181Ser|1306/2566|542/654|181/217||,G|missense_variant|MODERATE|KCTD18|KCTD18|transcript|NM_001321550.1|protein_coding|7/7|c.542G>C|p.Cys181Ser|1689/2949|542/654|181/217||,G|missense_variant|MODERATE|KCTD18|KCTD18|transcript|NM_152387.3|protein_coding|7/7|c.1169G>C|p.Cys390Ser|1711/2971|1169/1281|390/426||;p3_1000G_AA=G|||;p3_1000G_AC=1632;p3_1000G_AF=0.325879;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=17686;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201354935;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=982,3424;ESP6500_AA_AGE=731.6+/-410.3;ESP6500_AA_GTC=96,790,1317;ESP6500_CDS_SIZES=NM_152387.2:1281;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=65;ESP6500_EA_AC=3397,5203;ESP6500_EA_AGE=639.3+/-399.4;ESP6500_EA_GTC=666,2065,1569;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152387.2:missense;ESP6500_GL=KCTD18;ESP6500_GRCh38_POSITION=2:200490212;ESP6500_GS=112;ESP6500_GTC=762,2855,2886;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152387.2:c.1169G>C;ESP6500_HGVS_PROTEIN_VAR=NM_152387.2:p.(C390S);ESP6500_MAF=39.5,22.2878,33.6691;ESP6500_PH=benign:0.0;ESP6500_TAC=4379,8627	GT:AD:DP:GQ:PL	0/1:40,36:76:99:938,0,1159
chr2	200507045	rs3739116	G	T	332.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3739116;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|KCTD18|KCTD18|transcript|NM_001321547.1|protein_coding|2/7|c.-29C>A|||||29|,T|5_prime_UTR_variant|MODIFIER|KCTD18|KCTD18|transcript|NM_001321548.1|protein_coding|2/7|c.-634C>A|||||9259|,T|5_prime_UTR_variant|MODIFIER|KCTD18|KCTD18|transcript|NM_001321550.1|protein_coding|2/7|c.-634C>A|||||9259|,T|5_prime_UTR_variant|MODIFIER|KCTD18|KCTD18|transcript|NM_152387.3|protein_coding|2/7|c.-29C>A|||||29|;p3_1000G_AA=T|||;p3_1000G_AC=3791;p3_1000G_AF=0.756989;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=14156;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.8022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201371768;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3547,859;ESP6500_AA_AGE=329.3+/-301.0;ESP6500_AA_GTC=1422,703,78;ESP6500_CDS_SIZES=NM_152387.2:1281;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=63;ESP6500_EA_AC=6823,1777;ESP6500_EA_AGE=318.0+/-313.5;ESP6500_EA_GTC=2712,1399,189;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152387.2:utr-5;ESP6500_GL=KCTD18;ESP6500_GRCh38_POSITION=2:200507045;ESP6500_GTC=4134,2102,267;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_152387.2:c.-29C>A;ESP6500_MAF=20.6628,19.4961,20.2676;ESP6500_TAC=10370,2636	GT:AD:DP:GQ:PL	1/1:0,11:11:33:361,33,0
chr2	200572605	rs35987478	C	A	880.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.701;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35987478;dbSNPBuildID=126;ANN=A|synonymous_variant|LOW|SGO2|SGO2|transcript|NM_152524.5|protein_coding|7/9|c.2259C>A|p.Ile753Ile|2372/4542|2259/3798|753/1265||,A|synonymous_variant|LOW|SGO2|SGO2|transcript|NM_001160046.1|protein_coding|7/9|c.2259C>A|p.Ile753Ile|2372/4029|2259/3786|753/1261||,A|synonymous_variant|LOW|SGO2|SGO2|transcript|NM_001160033.1|protein_coding|7/9|c.2259C>A|p.Ile753Ile|2372/4535|2259/3783|753/1260||;p3_1000G_AA=C|||;p3_1000G_AC=1058;p3_1000G_AF=0.211262;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=17672;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201437328;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=495,3137;ESP6500_AA_GTC=25,445,1346;ESP6500_CDS_SIZES=NM_152524.5:3798,NM_001160046.1:3786,NM_001160033.1:3783;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=53;ESP6500_EA_AC=2025,6103;ESP6500_EA_GTC=238,1549,2277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152524.5:coding-synonymous,NM_001160046.1:coding-synonymous,NM_001160033.1:coding-synonymous;ESP6500_GL=SGOL2;ESP6500_GRCh38_POSITION=2:200572605;ESP6500_GTC=263,1994,3623;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152524.5:c.2259C>A,NM_001160046.1:c.2259C>A,NM_001160033.1:c.2259C>A;ESP6500_HGVS_PROTEIN_VAR=NM_152524.5:p.(I753),NM_001160046.1:p.(I753),NM_001160033.1:p.(I753);ESP6500_MAF=24.9139,13.6289,21.4286;ESP6500_TAC=2520,9240	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,35:53:99:0|1:200572605_C_A:909,0,429
chr2	200572611	rs12052989	T	C	2169.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.118;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12052989;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|SGO2|SGO2|transcript|NM_152524.5|protein_coding|7/9|c.2265T>C|p.Pro755Pro|2378/4542|2265/3798|755/1265||,C|synonymous_variant|LOW|SGO2|SGO2|transcript|NM_001160046.1|protein_coding|7/9|c.2265T>C|p.Pro755Pro|2378/4029|2265/3786|755/1261||,C|synonymous_variant|LOW|SGO2|SGO2|transcript|NM_001160033.1|protein_coding|7/9|c.2265T>C|p.Pro755Pro|2378/4535|2265/3783|755/1260||;p3_1000G_AA=T|||;p3_1000G_AC=3636;p3_1000G_AF=0.726038;p3_1000G_AFR_AF=0.7027;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=17738;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.7982;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201437334;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6391;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2530,1106;ESP6500_AA_GTC=873,784,161;ESP6500_CDS_SIZES=NM_152524.5:3798,NM_001160046.1:3786,NM_001160033.1:3783;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=54;ESP6500_EA_AC=6424,1702;ESP6500_EA_GTC=2551,1322,190;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152524.5:coding-synonymous,NM_001160046.1:coding-synonymous,NM_001160033.1:coding-synonymous;ESP6500_GL=SGOL2;ESP6500_GRCh38_POSITION=2:200572611;ESP6500_GTC=3424,2106,351;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152524.5:c.2265T>C,NM_001160046.1:c.2265T>C,NM_001160033.1:c.2265T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152524.5:p.(P755),NM_001160046.1:p.(P755),NM_001160033.1:p.(P755);ESP6500_MAF=20.9451,30.418,23.8735;ESP6500_TAC=8954,2808	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,54:54:99:1|1:200572605_C_A:2198,165,0
chr2	200595381	rs7597590	A	G	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.56;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=0.078;SOR=0.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7597590;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|3/34|c.200+13A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1388;p3_1000G_AF=0.277157;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=19157;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201460104;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1137,3269;ESP6500_AA_AGE=403.7+/-332.8;ESP6500_AA_GTC=156,825,1222;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=64;ESP6500_EA_AC=1542,7058;ESP6500_EA_AGE=285.8+/-297.4;ESP6500_EA_GTC=121,1300,2879;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200595381;ESP6500_GTC=277,2125,4101;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.200+13A>G;ESP6500_MAF=17.9302,25.8057,20.5982;ESP6500_TAC=2679,10327	GT:AD:DP:GQ:PL	0/1:23,10:33:99:243,0,660
chr2	200599572	rs10179964	T	C	647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.39;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10179964;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|4/34|c.310-48T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3048;p3_1000G_AF=0.608626;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=15433;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201464295;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2655,1751;ESP6500_AA_AGE=511.7+/-367.9;ESP6500_AA_GTC=802,1051,350;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=41;ESP6500_EA_AC=5033,3567;ESP6500_EA_AGE=508.2+/-377.0;ESP6500_EA_GTC=1476,2081,743;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200599572;ESP6500_GTC=2278,3132,1093;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.310-48T>C;ESP6500_MAF=41.4767,39.7413,40.8888;ESP6500_TAC=7688,5318	GT:AD:DP:GQ:PL	1/1:0,20:20:60:676,60,0
chr2	200602231	rs2248130	C	G	637.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.914;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-1.306;SOR=0.456;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2248130;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|5/34|c.437-53C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1889;p3_1000G_AF=0.377196;p3_1000G_AFR_AF=0.4236;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=19330;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201466954;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=583,801;ESP6500_AA_GTC=125,333,234;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=1056,2126;ESP6500_EA_GTC=173,710,708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200602231;ESP6500_GTC=298,1043,942;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.437-53C>G;ESP6500_MAF=33.1867,42.1243,35.8958;ESP6500_TAC=1639,2927	GT:AD:DP:GQ:PL	0/1:16,22:38:99:666,0,485
chr2	200602508	rs2293524	A	G	575.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.75;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.56;ReadPosRankSum=-0.374;SOR=1.22;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293524;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|6/34|c.498+163A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1084;p3_1000G_AF=0.216454;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=22066;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201467231;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,17:28:99:0|1:200602508_A_G:604,0,308
chr2	200604009	rs2293525	C	G	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.93;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-1.49;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293525;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|AOX1|AOX1|transcript|NM_001159.3|protein_coding|7/34|c.589-8C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1383;p3_1000G_AF=0.276158;p3_1000G_AFR_AF=0.2534;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=21656;p3_1000G_EAS_AF=0.4435;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201468732;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1113,3293;ESP6500_AA_AGE=394.7+/-329.4;ESP6500_AA_GTC=148,817,1238;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=60;ESP6500_EA_AC=1538,7062;ESP6500_EA_AGE=288.1+/-298.6;ESP6500_EA_GTC=120,1298,2882;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200604009;ESP6500_GTC=268,2115,4120;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.589-8C>G;ESP6500_MAF=17.8837,25.261,20.3829;ESP6500_TAC=2651,10355	GT:AD:DP:GQ:PL	0/1:16,14:30:99:371,0,404
chr2	200605510	rs199651858;rs558974283;rs879107907	ATT	A	198.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.27;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs199651858;dbSNPBuildID=137,147,142;ANN=A|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|9/34|c.815-12_815-11delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,4:4:20:179,20,0
chr2	200608951	rs2470902	G	A	516.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.4;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2470902;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|10/34|c.908-33G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3639;p3_1000G_AF=0.726637;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=22777;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.7962;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201473674;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3067,1339;ESP6500_AA_AGE=445.7+/-347.8;ESP6500_AA_GTC=1049,969,185;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=42;ESP6500_EA_AC=6788,1812;ESP6500_EA_AGE=324.6+/-316.5;ESP6500_EA_GTC=2686,1416,198;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200608951;ESP6500_GTC=3735,2385,383;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.908-33G>A;ESP6500_MAF=21.0698,30.3904,24.2273;ESP6500_TAC=9855,3151	GT:AD:DP:GQ:PL	1/1:0,17:17:51:545,51,0
chr2	200609456	rs17593811	C	T	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.501;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.28;ReadPosRankSum=0.742;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17593811;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|12/34|c.1153+42C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1898;p3_1000G_AF=0.378994;p3_1000G_AFR_AF=0.4304;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=18042;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.3231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201474179;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1867,2539;ESP6500_AA_AGE=538.5+/-375.0;ESP6500_AA_GTC=395,1077,731;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=47;ESP6500_EA_AC=2884,5716;ESP6500_EA_AGE=451.3+/-362.6;ESP6500_EA_GTC=460,1964,1876;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200609456;ESP6500_GTC=855,3041,2607;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.1153+42C>T;ESP6500_MAF=33.5349,42.374,36.5293;ESP6500_TAC=4751,8255	GT:AD:DP:GQ:PL	0/1:7,3:10:91:91,0,231
chr2	200609514	rs4672858	A	G	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=0.842;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4672858;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|12/34|c.1153+100A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1150;p3_1000G_AF=0.229633;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=18971;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201474237;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:60:111,0,60
chr2	200620849	rs4672865	A	G	671.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.16;ReadPosRankSum=0.196;SOR=1.201;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4672865;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|17/34|c.1874+30A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1403;p3_1000G_AF=0.280152;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=20739;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201485572;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=720,3686;ESP6500_AA_AGE=299.3+/-285.7;ESP6500_AA_GTC=56,608,1539;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=77;ESP6500_EA_AC=2800,5800;ESP6500_EA_AGE=441.5+/-359.8;ESP6500_EA_GTC=426,1948,1926;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200620849;ESP6500_GTC=482,2556,3465;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.1874+30A>G;ESP6500_MAF=32.5581,16.3414,27.0644;ESP6500_TAC=3520,9486	GT:AD:DP:GQ:PL	0/1:8,21:29:99:700,0,184
chr2	200620926	rs4672866	T	G	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.6;ReadPosRankSum=0.437;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4672866;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|17/34|c.1874+107T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1473;p3_1000G_AF=0.294129;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=22256;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201485649;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2168;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,14:18:99:471,0,102
chr2	200624035	rs2348021	A	G	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.861;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.863;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2348021;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|19/34|c.2124+52A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3082;p3_1000G_AF=0.615415;p3_1000G_AFR_AF=0.5204;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=22552;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201488758;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1425,1229;ESP6500_AA_GTC=386,653,288;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=3083,1535;ESP6500_EA_GTC=1021,1041,247;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200624035;ESP6500_GTC=1407,1694,535;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.2124+52A>G;ESP6500_MAF=33.2395,46.3075,38.0088;ESP6500_TAC=4508,2764	GT:AD:DP:GQ:PL	0/1:9,8:17:99:211,0,272
chr2	200638175	rs2470900	G	A	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.9;SOR=0.042;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2470900;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|22/34|c.2481-40G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=966;p3_1000G_AF=0.192891;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=19279;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.1064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201502898;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=295,4111;ESP6500_AA_AGE=161.1+/-193.3;ESP6500_AA_GTC=15,265,1923;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=803,7797;ESP6500_EA_AGE=186.4+/-233.9;ESP6500_EA_GTC=38,727,3535;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200638175;ESP6500_GTC=53,992,5458;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.2481-40G>A;ESP6500_MAF=9.3372,6.6954,8.4423;ESP6500_TAC=1098,11908	GT:AD:DP:GQ:PL	0/1:7,6:13:99:174,0,260
chr2	200641230	rs11887334	C	T	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.515;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.921;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11887334;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|24/34|c.2655+46C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1676;p3_1000G_AF=0.334665;p3_1000G_AFR_AF=0.3064;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=19799;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.2753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201505953;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1346,3058;ESP6500_AA_AGE=428.9+/-342.0;ESP6500_AA_GTC=198,950,1054;ESP6500_CDS_SIZES=NM_001159.3:4017;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=38;ESP6500_EA_AC=2208,6392;ESP6500_EA_AGE=363.2+/-333.1;ESP6500_EA_GTC=281,1646,2373;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001159.3:intron;ESP6500_GL=AOX1;ESP6500_GRCh38_POSITION=2:200641230;ESP6500_GTC=479,2596,3427;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001159.3:c.2655+46C>T;ESP6500_MAF=25.6744,30.5631,27.3301;ESP6500_TAC=3554,9450	GT:AD:DP:GQ:PL	0/1:3,6:9:99:145,0,104
chr2	200657008	rs4674302	A	G	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.71;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.241;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4674302;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|27/34|c.3171+71A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1688;p3_1000G_AF=0.337061;p3_1000G_AFR_AF=0.1543;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=9676;p3_1000G_EAS_AF=0.5704;p3_1000G_EUR_AF=0.2654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201521731;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:138,0,137
chr2	200666537	rs2287010	C	A	77.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2287010;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|AOX1|AOX1|transcript|NM_001159.3|protein_coding|31/34|c.3544-150C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3090;p3_1000G_AF=0.617013;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.598;p3_1000G_AN=5008;p3_1000G_DP=17287;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.5457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201531260;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:105,9,0
chr2	200821943	rs6705053	C	T	118.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6705053;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_001207068.2|protein_coding|11/11|c.1325-204C>T||||||,T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_001207067.1|protein_coding|11/11|c.1229-204C>T||||||,T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_014670.3|protein_coding|11/11|c.1031-204C>T||||||,T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_001321690.1|protein_coding|11/11|c.1229-204C>T||||||,T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_001321694.1|protein_coding|10/10|c.977-204C>T||||||,T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_001321688.1|protein_coding|11/11|c.1229-204C>T||||||,T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_001321691.1|protein_coding|11/11|c.1127-204C>T||||||,T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_001321693.1|protein_coding|10/10|c.1052-204C>T||||||,T|intron_variant|MODIFIER|BZW1|BZW1|transcript|NM_001207069.1|protein_coding|11/11|c.1241-204C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=4853;p3_1000G_AF=0.96905;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=16215;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201686666;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr2	200876848	rs62189333	T	C	509.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=0.349;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62189333;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|PPIL3|PPIL3|transcript|NM_032472.3|protein_coding|6/6|c.371+71A>G||||||,C|intron_variant|MODIFIER|PPIL3|PPIL3|transcript|NM_130906.2|protein_coding|6/6|c.359+71A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=379;p3_1000G_AF=0.0756789;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18825;p3_1000G_EAS_AF=0.2659;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201741571;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,17:30:99:538,0,364
chr2	201063762	rs10206365	A	G	367.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.56;QD=33.43;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10206365;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321623.1|protein_coding|1/12|c.-129+7848T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321619.1|protein_coding|1/11|c.-129+7692T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321621.1|protein_coding|1/10|c.-31+7692T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321622.1|protein_coding|1/12|c.-246-2338T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321625.1|protein_coding|1/12|c.-129+7692T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321626.1|protein_coding|1/12|c.-148-2338T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321628.1|protein_coding|1/13|c.-431+7692T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321618.1|protein_coding|1/10|c.-31+7848T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321624.1|protein_coding|1/11|c.-31+7848T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321627.1|protein_coding|1/13|c.-431+7848T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_001321629.1|protein_coding|1/12|c.-431+7848T>C||||||,G|intron_variant|MODIFIER|FAM126B|FAM126B|transcript|NM_173822.4|protein_coding|1/11|c.-129+7848T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4984;p3_1000G_AF=0.995208;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18454;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=201928485;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:396,33,0
chr2	201140456	rs145958388	CAT	C	328.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.903;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.562;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.336;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs145958388;dbSNPBuildID=134;ANN=C|downstream_gene_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001308043.1|protein_coding||c.*4030_*4031delAT|||||580|,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001127183.2|protein_coding|5/9|c.606+20_606+21delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CFLAR-AS1|CFLAR-AS1|transcript|NR_040030.1|pseudogene|6/6|n.885-13_885-12delAT||||||,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001127184.2|protein_coding|5/5|c.606+20_606+21delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202516.1|protein_coding|5/7|c.606+20_606+21delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202517.1|protein_coding|4/8|c.318+20_318+21delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202519.1|protein_coding|4/8|c.318+20_318+21delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_003879.5|protein_coding|5/9|c.606+20_606+21delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001308042.1|protein_coding|4/8|c.606+20_606+21delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202518.1|protein_coding|3/7|c.318+20_318+21delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202515.1|protein_coding|1/5|c.-130+20_-130+21delAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12338;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202005179;p3_1000G_GRCH37_REF=CAT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=INDEL;ESP6500_AA_AC=3,4263;ESP6500_AA_GTC=0,3,2130;ESP6500_CDS_SIZES=NM_003879.5:1443,NM_001202519.1:1101,NM_001202518.1:1101,NM_001202517.1:1155,NM_001202516.1:1338,NM_001202515.1:708,NM_001127184.2:666,NM_001127183.2:1443;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=84;ESP6500_EA_AC=0,8254;ESP6500_EA_GTC=0,0,4127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003879.5:intron,NM_001202519.1:intron,NM_001202518.1:intron,NM_001202517.1:intron,NM_001202516.1:intron,NM_001202515.1:intron,NM_001127184.2:intron,NM_001127183.2:intron;ESP6500_GL=CFLAR;ESP6500_GRCh38_POSITION=2:201140456;ESP6500_GTC=0,3,6257;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003879.5:c.606+18_606+19del2,NM_001202519.1:c.318+18_318+19del2,NM_001202518.1:c.318+18_318+19del2,NM_001202517.1:c.318+18_318+19del2,NM_001202516.1:c.606+18_606+19del2,NM_001202515.1:c.-9321_-9320del2,NM_001127184.2:c.606+18_606+19del2,NM_001127183.2:c.606+18_606+19del2;ESP6500_MAF=0.0,0.0703,0.024;ESP6500_TAC=3,12517	GT:AD:DP:GQ:PL	0/1:18,10:28:99:366,0,733
chr2	201141373	rs10190751	G	A	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.95;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=3.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.704;SOR=0.298;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10190751;dbSNPBuildID=119;ANN=A|splice_acceptor_variant&intron_variant|HIGH|CFLAR|CFLAR|transcript|NM_001127184.2|protein_coding|5/5|c.607-1G>A||||||,A|downstream_gene_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001308043.1|protein_coding||c.*4946G>A|||||1496|,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001127183.2|protein_coding|5/9|c.606+934G>A||||||,A|intron_variant|MODIFIER|CFLAR-AS1|CFLAR-AS1|transcript|NR_040030.1|pseudogene|6/6|n.885-928C>T||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202516.1|protein_coding|5/7|c.606+934G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202517.1|protein_coding|4/8|c.318+934G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202519.1|protein_coding|4/8|c.318+934G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_003879.5|protein_coding|5/9|c.606+934G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001308042.1|protein_coding|4/8|c.606+934G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202518.1|protein_coding|3/7|c.318+934G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202515.1|protein_coding|1/5|c.-130+934G>A||||||;LOF=(CFLAR|CFLAR|10|0.10);p3_1000G_AA=A|||;p3_1000G_AC=1084;p3_1000G_AF=0.216454;p3_1000G_AFR_AF=0.4622;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=18717;p3_1000G_EAS_AF=0.0516;p3_1000G_EUR_AF=0.2147;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202006096;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1053;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1221,1891;ESP6500_AA_GTC=265,691,600;ESP6500_CDS_SIZES=NM_003879.5:1443,NM_001202519.1:1101,NM_001202518.1:1101,NM_001202517.1:1155,NM_001202516.1:1338,NM_001202515.1:708,NM_001127184.2:666,NM_001127183.2:1443;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=100;ESP6500_EA_AC=1377,5755;ESP6500_EA_GTC=145,1087,2334;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003879.5:intron,NM_001202519.1:intron,NM_001202518.1:intron,NM_001202517.1:intron,NM_001202516.1:intron,NM_001202515.1:intron,NM_001127184.2:splice-3,NM_001127183.2:intron;ESP6500_GL=CFLAR;ESP6500_GRCh38_POSITION=2:201141373;ESP6500_GTC=410,1778,2934;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003879.5:c.606+934G>A,NM_001202519.1:c.318+934G>A,NM_001202518.1:c.318+934G>A,NM_001202517.1:c.318+934G>A,NM_001202516.1:c.606+934G>A,NM_001202515.1:c.-8405G>A,NM_001127184.2:c.607-1G>A,NM_001127183.2:c.606+934G>A;ESP6500_MAF=19.3073,39.2352,25.3612;ESP6500_TAC=2598,7646	GT:AD:DP:GQ:PL	0/1:18,17:35:99:395,0,504
chr2	201145567	rs3769828	C	G	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769828;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001127184.2|protein_coding||c.*4134C>G|||||3967|,G|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001127183.2|protein_coding|6/9|c.661+135C>G||||||,G|intron_variant|MODIFIER|CFLAR-AS1|CFLAR-AS1|transcript|NR_040030.1|pseudogene|6/6|n.884+3167G>C||||||,G|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202516.1|protein_coding|5/7|c.607-4187C>G||||||,G|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202517.1|protein_coding|5/8|c.373+135C>G||||||,G|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202519.1|protein_coding|5/8|c.373+135C>G||||||,G|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_003879.5|protein_coding|6/9|c.661+135C>G||||||,G|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001308042.1|protein_coding|5/8|c.661+135C>G||||||,G|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202518.1|protein_coding|4/7|c.373+135C>G||||||,G|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202515.1|protein_coding|2/5|c.-75+135C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=42;p3_1000G_AF=0.00838658;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19198;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202010290;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:31:113,0,31
chr2	201160408	rs2518142	G	A	1286.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.86;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2518142;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|CFLAR-AS1|CFLAR-AS1|transcript|NR_040030.1|pseudogene||n.-2616C>T|||||2616|,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001127183.2|protein_coding|8/9|c.794-24G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202516.1|protein_coding|6/7|c.689-24G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202517.1|protein_coding|7/8|c.506-24G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202519.1|protein_coding|7/8|c.506-24G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_003879.5|protein_coding|8/9|c.794-24G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001308042.1|protein_coding|7/8|c.794-24G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202518.1|protein_coding|6/7|c.506-24G>A||||||,A|intron_variant|MODIFIER|CFLAR|CFLAR|transcript|NM_001202515.1|protein_coding|4/5|c.59-24G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4195;p3_1000G_AF=0.83766;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=22259;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.9274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202025131;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3726,680;ESP6500_AA_AGE=276.3+/-273.0;ESP6500_AA_GTC=1572,582,49;ESP6500_CDS_SIZES=NM_003879.5:1443,NM_001202519.1:1101,NM_001202518.1:1101,NM_001202517.1:1155,NM_001202516.1:1338,NM_001202515.1:708,NM_001127183.2:1443;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=82;ESP6500_EA_AC=7813,785;ESP6500_EA_AGE=178.0+/-227.5;ESP6500_EA_GTC=3544,725,30;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003879.5:intron,NM_001202519.1:intron,NM_001202518.1:intron,NM_001202517.1:intron,NM_001202516.1:intron,NM_001202515.1:intron,NM_001127183.2:intron;ESP6500_GL=CFLAR;ESP6500_GRCh38_POSITION=2:201160408;ESP6500_GTC=5116,1307,79;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003879.5:c.794-24G>A,NM_001202519.1:c.506-24G>A,NM_001202518.1:c.506-24G>A,NM_001202517.1:c.506-24G>A,NM_001202516.1:c.689-24G>A,NM_001202515.1:c.59-24G>A,NM_001127183.2:c.794-24G>A;ESP6500_MAF=9.13,15.4335,11.2658;ESP6500_TAC=11539,1465	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1315,114,0
chr2	201160898	rs1594	A	G	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.38;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-1.489;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1594;dbSNPBuildID=36;ANN=G|synonymous_variant|LOW|CFLAR|CFLAR|transcript|NM_001127183.2|protein_coding|9/10|c.1260A>G|p.Pro420Pro|1753/10651|1260/1443|420/480||,G|synonymous_variant|LOW|CFLAR|CFLAR|transcript|NM_001202516.1|protein_coding|7/8|c.1155A>G|p.Pro385Pro|1620/10518|1155/1338|385/445||,G|synonymous_variant|LOW|CFLAR|CFLAR|transcript|NM_001202517.1|protein_coding|8/9|c.972A>G|p.Pro324Pro|1307/10205|972/1155|324/384||,G|synonymous_variant|LOW|CFLAR|CFLAR|transcript|NM_001202519.1|protein_coding|8/9|c.972A>G|p.Pro324Pro|1307/11044|972/1101|324/366||,G|synonymous_variant|LOW|CFLAR|CFLAR|transcript|NM_003879.5|protein_coding|9/10|c.1260A>G|p.Pro420Pro|1725/10623|1260/1443|420/480||,G|synonymous_variant|LOW|CFLAR|CFLAR|transcript|NM_001308042.1|protein_coding|8/9|c.1260A>G|p.Pro420Pro|1397/1548|1260/1389|420/462||,G|synonymous_variant|LOW|CFLAR|CFLAR|transcript|NM_001202518.1|protein_coding|7/8|c.972A>G|p.Pro324Pro|1043/10780|972/1101|324/366||,G|synonymous_variant|LOW|CFLAR|CFLAR|transcript|NM_001202515.1|protein_coding|5/6|c.525A>G|p.Pro175Pro|819/9717|525/708|175/235||,G|upstream_gene_variant|MODIFIER|CFLAR-AS1|CFLAR-AS1|transcript|NR_040030.1|pseudogene||n.-3106T>C|||||3106|;p3_1000G_AA=G|||;p3_1000G_AC=1997;p3_1000G_AF=0.398762;p3_1000G_AFR_AF=0.4614;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=18859;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.5109;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202025621;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2072,2334;ESP6500_AA_AGE=601.9+/-389.8;ESP6500_AA_GTC=485,1102,616;ESP6500_CDS_SIZES=NM_003879.5:1443,NM_001202519.1:1101,NM_001202518.1:1101,NM_001202517.1:1155,NM_001202516.1:1338,NM_001202515.1:708,NM_001127183.2:1443;ESP6500_CG=-11.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=44;ESP6500_EA_AC=4425,4175;ESP6500_EA_AGE=561.3+/-387.7;ESP6500_EA_GTC=1119,2187,994;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003879.5:coding-synonymous,NM_001202519.1:coding-synonymous,NM_001202518.1:coding-synonymous,NM_001202517.1:coding-synonymous,NM_001202516.1:coding-synonymous,NM_001202515.1:coding-synonymous,NM_001127183.2:coding-synonymous;ESP6500_GL=CFLAR;ESP6500_GRCh38_POSITION=2:201160898;ESP6500_GTC=1604,3289,1610;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003879.5:c.1260A>G,NM_001202519.1:c.972A>G,NM_001202518.1:c.972A>G,NM_001202517.1:c.972A>G,NM_001202516.1:c.1155A>G,NM_001202515.1:c.525A>G,NM_001127183.2:c.1260A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003879.5:p.(P420),NM_001202519.1:p.(P324),NM_001202518.1:p.(P324),NM_001202517.1:p.(P324),NM_001202516.1:p.(P385),NM_001202515.1:p.(P175),NM_001127183.2:p.(P420);ESP6500_MAF=48.5465,47.0268,49.9539;ESP6500_TAC=6497,6509	GT:AD:DP:GQ:PL	0/1:13,7:20:99:221,0,349
chr2	201185954	rs3900115;333418	A	G	820.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.393;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.506;SOR=0.738;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3900115;dbSNPBuildID=108;ANN=G|synonymous_variant|LOW|CASP10|CASP10|transcript|NM_032977.3|protein_coding|2/10|c.177A>G|p.Ser59Ser|595/5906|177/1569|59/522||,G|synonymous_variant|LOW|CASP10|CASP10|transcript|NM_001306083.1|protein_coding|2/6|c.177A>G|p.Ser59Ser|612/1406|177/744|59/247||,G|synonymous_variant|LOW|CASP10|CASP10|transcript|NM_001206524.1|protein_coding|2/8|c.177A>G|p.Ser59Ser|595/5705|177/1368|59/455||,G|synonymous_variant|LOW|CASP10|CASP10|transcript|NM_001230.4|protein_coding|2/8|c.177A>G|p.Ser59Ser|595/5777|177/1440|59/479||,G|synonymous_variant|LOW|CASP10|CASP10|transcript|NM_032976.3|protein_coding|2/9|c.177A>G|p.Ser59Ser|595/5814|177/822|59/273||,G|synonymous_variant|LOW|CASP10|CASP10|transcript|NM_001206542.1|protein_coding|2/8|c.177A>G|p.Ser59Ser|595/2178|177/1437|59/478||,G|synonymous_variant|LOW|CASP10|CASP10|transcript|NM_032974.4|protein_coding|2/10|c.177A>G|p.Ser59Ser|595/2307|177/1566|59/521||;p3_1000G_AA=G|||;p3_1000G_AC=1974;p3_1000G_AF=0.394169;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19843;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.5119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202050677;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2154,2252;ESP6500_AA_AGE=595.7+/-388.5;ESP6500_AA_GTC=521,1112,570;ESP6500_CDS_SIZES=NM_032977.3:1569,NM_032976.3:822,NM_032974.4:1566,NM_001230.4:1440,NM_001206542.1:1437,NM_001206524.1:1368;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=55;ESP6500_EA_AC=4481,4119;ESP6500_EA_AGE=563.6+/-388.2;ESP6500_EA_GTC=1158,2165,977;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032977.3:coding-synonymous,NM_032976.3:coding-synonymous,NM_032974.4:coding-synonymous,NM_001230.4:coding-synonymous,NM_001206542.1:coding-synonymous,NM_001206524.1:coding-synonymous;ESP6500_GL=CASP10;ESP6500_GRCh38_POSITION=2:201185954;ESP6500_GTC=1679,3277,1547;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032977.3:c.177A>G,NM_032976.3:c.177A>G,NM_032974.4:c.177A>G,NM_001230.4:c.177A>G,NM_001206542.1:c.177A>G,NM_001206524.1:c.177A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032977.3:p.(S59),NM_032976.3:p.(S59),NM_032974.4:p.(S59),NM_001230.4:p.(S59),NM_001206542.1:p.(S59),NM_001206524.1:p.(S59);ESP6500_MAF=47.8953,48.8879,48.9851;ESP6500_TAC=6635,6371;CLINVAR_AF_EXAC=0.45240;CLINVAR_AF_TGP=0.3942;CLINVAR_ALLELEID=284490;CLINVAR_CLNDISDB=MedGen:C1328840,OMIM:601859,Orphanet:ORPHA3261|MedGen:CN169374;CLINVAR_CLNDN=Autoimmune_lymphoproliferative_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.201185954A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27497;CLINVAR_GENEINFO=CASP10:843;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3900115	GT:AD:DP:GQ:PL	0/1:26,32:58:99:849,0,682
chr2	201205995	rs12471740	C	T	49.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=1.07;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12471740;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|CASP10|CASP10|transcript|NM_032977.3|protein_coding|7/9|c.813+22C>T||||||,T|intron_variant|MODIFIER|CASP10|CASP10|transcript|NM_001206524.1|protein_coding|6/7|c.721+2229C>T||||||,T|intron_variant|MODIFIER|CASP10|CASP10|transcript|NM_001230.4|protein_coding|5/7|c.685-2080C>T||||||,T|intron_variant|MODIFIER|CASP10|CASP10|transcript|NM_032976.3|protein_coding|6/8|c.722-2080C>T||||||,T|intron_variant|MODIFIER|CASP10|CASP10|transcript|NM_001206542.1|protein_coding|5/7|c.685-2080C>T||||||,T|intron_variant|MODIFIER|CASP10|CASP10|transcript|NM_032974.4|protein_coding|7/9|c.813+22C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=411;p3_1000G_AF=0.0820687;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=16086;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202070718;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=17,4387;ESP6500_AA_AGE=16.8+/-37.8;ESP6500_AA_GTC=0,17,2185;ESP6500_CDS_SIZES=NM_032977.3:1569,NM_032976.3:822,NM_032974.4:1566,NM_001230.4:1440,NM_001206542.1:1437,NM_001206524.1:1368;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=38;ESP6500_EA_AC=18,8582;ESP6500_EA_AGE=7.1+/-27.0;ESP6500_EA_GTC=0,18,4282;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032977.3:intron,NM_032976.3:intron,NM_032974.4:intron,NM_001230.4:intron,NM_001206542.1:intron,NM_001206524.1:intron;ESP6500_GL=CASP10;ESP6500_GRCh38_POSITION=2:201205995;ESP6500_GTC=0,35,6467;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032977.3:c.813+22C>T,NM_032976.3:c.722-2080C>T,NM_032974.4:c.813+22C>T,NM_001230.4:c.685-2080C>T,NM_001206542.1:c.685-2080C>T,NM_001206524.1:c.721+2229C>T;ESP6500_MAF=0.2093,0.386,0.2691;ESP6500_TAC=35,12969	GT:AD:DP:GQ:PL	0/1:3,4:7:78:78,0,105
chr2	201258272	rs3769823;402492	A	G	363.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.509;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.41;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769823;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|CASP8|CASP8|transcript|NM_001080125.1|protein_coding|1/9|c.41A>G|p.Lys14Arg|242/2935|41/1617|14/538||,G|upstream_gene_variant|MODIFIER|CASP8|CASP8|transcript|NM_033356.3|protein_coding||c.-8215A>G|||||2228|,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_033358.3|protein_coding|2/7|c.-26-8189A>G||||||,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_001080124.1|protein_coding|2/8|c.-26-8189A>G||||||,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_001228.4|protein_coding|2/9|c.-26-8189A>G||||||,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_033355.3|protein_coding|2/9|c.1-8215A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|CASP8|CASP8|transcript|NR_111983.1|pseudogene|1/9|n.242A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3237;p3_1000G_AF=0.646366;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=19483;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.6918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202122995;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2286,1578;ESP6500_AA_GTC=665,956,311;ESP6500_CDS_SIZES=NM_033358.3:708,NM_033355.3:1440,NM_001228.4:1491,NM_001080125.1:1617,NM_001080124.1:1395;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=171;ESP6500_EA_AC=5832,2430;ESP6500_EA_GTC=2062,1708,361;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033358.3:intron,NM_033355.3:intron,NM_001228.4:intron,NM_001080125.1:missense,NM_001080124.1:intron;ESP6500_GL=CASP8;ESP6500_GRCh38_POSITION=2:201258272;ESP6500_GS=.,.,.,26,.;ESP6500_GTC=2727,2664,672;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033358.3:c.-8215A>G,NM_033355.3:c.-8215A>G,NM_001228.4:c.-8215A>G,NM_001080125.1:c.41A>G,NM_001080124.1:c.-8215A>G;ESP6500_HGVS_PROTEIN_VAR=.,.,.,NM_001080125.1:p.(K14R),.;ESP6500_MAF=29.4118,40.8385,33.0529;ESP6500_PH=.,.,.,benign:0.008,.;ESP6500_TAC=8118,4008;CLINVAR_ALLELEID=389468;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.201258272A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CASP8:841;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3769823	GT:AD:DP:GQ:PL	0/1:16,14:30:99:392,0,453
chr2	201286440	rs3769818	A	G	673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.014;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.666;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.984;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769818;dbSNPBuildID=107;ANN=G|downstream_gene_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_139163.3|protein_coding||c.*2215T>C|||||1831|,G|downstream_gene_variant|MODIFIER|CASP8|CASP8|transcript|NM_033358.3|protein_coding||c.*9501A>G|||||4525|,G|downstream_gene_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_001127391.2|protein_coding||c.*2215T>C|||||1831|,G|downstream_gene_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_001289993.1|protein_coding||c.*2215T>C|||||1831|,G|downstream_gene_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NR_110620.1|pseudogene||n.*1831T>C|||||1831|,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_001080125.1|protein_coding|8/8|c.1482-19A>G||||||,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_001080124.1|protein_coding|8/8|c.1260-19A>G||||||,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_001228.4|protein_coding|9/9|c.1356-19A>G||||||,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_033355.3|protein_coding|9/9|c.1305-19A>G||||||,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NR_111983.1|pseudogene|8/8|n.1819-19A>G||||||,G|intron_variant|MODIFIER|CASP8|CASP8|transcript|NM_033356.3|protein_coding|7/7|c.1260-19A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3732;p3_1000G_AF=0.745208;p3_1000G_AFR_AF=0.8109;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=18632;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.7167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202151163;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3488,918;ESP6500_AA_AGE=353.8+/-312.3;ESP6500_AA_GTC=1375,738,90;ESP6500_CDS_SIZES=NM_033356.3:1395,NM_033355.3:1440,NM_001228.4:1491,NM_001080125.1:1617,NM_001080124.1:1395;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=94;ESP6500_EA_AC=6174,2426;ESP6500_EA_AGE=401.5+/-347.1;ESP6500_EA_GTC=2216,1742,342;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033356.3:intron,NM_033355.3:intron,NM_001228.4:intron,NM_001080125.1:intron,NM_001080124.1:intron;ESP6500_GL=CASP8;ESP6500_GRCh38_POSITION=2:201286440;ESP6500_GTC=3591,2480,432;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033356.3:c.1260-19A>G,NM_033355.3:c.1305-19A>G,NM_001228.4:c.1356-19A>G,NM_001080125.1:c.1482-19A>G,NM_001080124.1:c.1260-19A>G;ESP6500_MAF=28.2093,20.8352,25.7112;ESP6500_TAC=9662,3344	GT:AD:DP:GQ:PL	0/1:16,27:43:99:702,0,363
chr2	201346720	rs1406122	C	T	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.054;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.965;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-0.619;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1406122;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_139163.3|protein_coding|4/14|c.235-45G>A||||||,T|intron_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_001127391.2|protein_coding|4/14|c.235-45G>A||||||,T|intron_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_001289993.1|protein_coding|4/14|c.235-45G>A||||||,T|intron_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NR_110620.1|pseudogene|4/13|n.853-45G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2500;p3_1000G_AF=0.499201;p3_1000G_AFR_AF=0.4123;p3_1000G_AMR_AF=0.4395;p3_1000G_AN=5008;p3_1000G_DP=20120;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.5755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202211443;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1761,2645;ESP6500_AA_AGE=523.6+/-371.1;ESP6500_AA_GTC=339,1083,781;ESP6500_CDS_SIZES=NM_139163.2:1338,NM_001127391.1:1269;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=49;ESP6500_EA_AC=4858,3742;ESP6500_EA_AGE=614.5+/-396.2;ESP6500_EA_GTC=1360,2138,802;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139163.2:intron,NM_001127391.1:intron;ESP6500_GL=ALS2CR12;ESP6500_GRCh38_POSITION=2:201346720;ESP6500_GTC=1699,3221,1583;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_139163.2:c.235-45G>A,NM_001127391.1:c.235-45G>A;ESP6500_MAF=43.5116,39.9682,49.1081;ESP6500_TAC=6619,6387	GT:AD:DP:GQ:PL	0/1:9,18:27:99:528,0,261
chr2	201350686	rs571747757;rs71022364	C	CAAAACAAAACAAAACAA	406.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.799;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.89;ReadPosRankSum=0.325;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71022364;dbSNPBuildID=142,130;ANN=CAAAACAAAACAAAACAA|intron_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_139163.3|protein_coding|3/14|c.185+8_185+24dupTTGTTTTGTTTTGTTTT||||||,CAAAACAAAACAAAACAA|intron_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_001127391.2|protein_coding|3/14|c.185+8_185+24dupTTGTTTTGTTTTGTTTT||||||,CAAAACAAAACAAAACAA|intron_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NM_001289993.1|protein_coding|3/14|c.185+8_185+24dupTTGTTTTGTTTTGTTTT||||||,CAAAACAAAACAAAACAA|intron_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NR_110620.1|pseudogene|3/13|n.649+8_649+24dupTTGTTTTGTTTTGTTTT||||||;p3_1000G_AC=2558;p3_1000G_AF=0.510783;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=21101;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202215409;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,8:12:99:444,0,267
chr2	201350769	rs13014235	C	G	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.682;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=0.125;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13014235;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|ALS2CR12|ALS2CR12|transcript|NM_139163.3|protein_coding|3/15|c.127G>C|p.Val43Leu|591/2186|127/1338|43/445||,G|missense_variant|MODERATE|ALS2CR12|ALS2CR12|transcript|NM_001127391.2|protein_coding|3/15|c.127G>C|p.Val43Leu|591/2117|127/1269|43/422||,G|missense_variant|MODERATE|ALS2CR12|ALS2CR12|transcript|NM_001289993.1|protein_coding|3/15|c.127G>C|p.Val43Leu|259/1785|127/1269|43/422||,G|non_coding_transcript_exon_variant|MODIFIER|ALS2CR12|ALS2CR12|transcript|NR_110620.1|pseudogene|3/14|n.591G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3551;p3_1000G_AF=0.709065;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=20725;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.6054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202215492;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3287,1119;ESP6500_AA_AGE=401.7+/-332.1;ESP6500_AA_GTC=1227,833,143;ESP6500_CDS_SIZES=NM_139163.2:1338,NM_001127391.1:1269;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=139;ESP6500_EA_AC=5116,3484;ESP6500_EA_AGE=509.4+/-377.3;ESP6500_EA_GTC=1515,2086,699;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_139163.2:missense,NM_001127391.1:missense;ESP6500_GL=ALS2CR12;ESP6500_GRCh38_POSITION=2:201350769;ESP6500_GS=32,32;ESP6500_GTC=2742,2919,842;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_139163.2:c.127G>C,NM_001127391.1:c.127G>C;ESP6500_HGVS_PROTEIN_VAR=NM_139163.2:p.(V43L),NM_001127391.1:p.(V43L);ESP6500_MAF=40.5116,25.3972,35.3914;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8403,4603	GT:AD:DP:GQ:PL	0/1:6,8:14:99:263,0,217
chr2	201380521	rs3795966	A	G	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.758;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795966;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|16/16|c.*22T>C|||||22|;p3_1000G_AA=G|||;p3_1000G_AC=2759;p3_1000G_AF=0.550919;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=21598;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202245244;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1741,2665;ESP6500_AA_AGE=638.7+/-397.0;ESP6500_AA_GTC=336,1069,798;ESP6500_CDS_SIZES=NM_015049.2:2745;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=32;ESP6500_EA_AC=5787,2813;ESP6500_EA_AGE=432.5+/-357.1;ESP6500_EA_GTC=1939,1909,452;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015049.2:utr-3;ESP6500_GL=TRAK2;ESP6500_GRCh38_POSITION=2:201380521;ESP6500_GTC=2275,2978,1250;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015049.2:c.*22T>C;ESP6500_MAF=32.7093,39.5143,42.119;ESP6500_TAC=7528,5478	GT:AD:DP:GQ:PL	0/1:16,9:25:99:271,0,539
chr2	201381221	rs3832088;rs398060953;rs541053468;rs543324522	TAA	T	351.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.097;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.06;ReadPosRankSum=-0.676;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3832088;dbSNPBuildID=107,138;ANN=T|splice_region_variant&intron_variant|LOW|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|15/15|c.2070-5_2070-4delTT||||||;p3_1000G_AC=2781;p3_1000G_AF=0.555312;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=21952;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.669;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202245944;p3_1000G_GRCH37_REF=TAA;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,10:13:99:0|1:201381221_TAA_T:389,0,106
chr2	201381232	rs72937131	A	G	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.67;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.75;ReadPosRankSum=-0.676;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72937131;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|15/15|c.2070-14T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2607;p3_1000G_AF=0.520567;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=16568;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.661;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202245955;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6339;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,10:13:99:0|1:201381221_TAA_T:389,0,107
chr2	201384065	rs7579617	T	C	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.16;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.084;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7579617;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|15/15|c.2069+46A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2722;p3_1000G_AF=0.54353;p3_1000G_AFR_AF=0.3495;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=16989;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202248788;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1647,2759;ESP6500_AA_AGE=502.7+/-365.3;ESP6500_AA_GTC=302,1043,858;ESP6500_CDS_SIZES=NM_015049.2:2745;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=47;ESP6500_EA_AC=5793,2807;ESP6500_EA_AGE=675.5+/-403.2;ESP6500_EA_GTC=1940,1913,447;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015049.2:intron;ESP6500_GL=TRAK2;ESP6500_GRCh38_POSITION=2:201384065;ESP6500_GTC=2242,2956,1305;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015049.2:c.2069+46A>G;ESP6500_MAF=32.6395,37.3808,42.7956;ESP6500_TAC=7440,5566	GT:AD:DP:GQ:PL	0/1:4,7:11:99:199,0,107
chr2	201384256	rs7579853	T	A	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7579853;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|14/15|c.1964-40A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2761;p3_1000G_AF=0.551318;p3_1000G_AFR_AF=0.3775;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=14752;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202248979;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1743,2661;ESP6500_AA_AGE=637.4+/-396.7;ESP6500_AA_GTC=337,1069,796;ESP6500_CDS_SIZES=NM_015049.2:2745;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=5794,2806;ESP6500_EA_AGE=440.8+/-359.6;ESP6500_EA_GTC=1940,1914,446;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015049.2:intron;ESP6500_GL=TRAK2;ESP6500_GRCh38_POSITION=2:201384256;ESP6500_GTC=2277,2983,1242;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_015049.2:c.1964-40A>T;ESP6500_MAF=32.6279,39.5777,42.0409;ESP6500_TAC=7537,5467	GT:AD:DP:GQ:PL	0/1:2,4:6:62:105,0,62
chr2	201387816	rs2244438	G	A	907.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.47;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.144;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.462;SOR=0.44;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2244438;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|13/16|c.1583C>T|p.Thr528Ile|2029/6527|1583/2745|528/914||;p3_1000G_AA=G|||;p3_1000G_AC=1197;p3_1000G_AF=0.239018;p3_1000G_AFR_AF=0.2095;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=17694;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.3141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202252539;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1027,3379;ESP6500_AA_AGE=380.4+/-323.7;ESP6500_AA_GTC=126,775,1302;ESP6500_CDS_SIZES=NM_015049.2:2745;ESP6500_CG=4.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=102;ESP6500_EA_AC=2617,5983;ESP6500_EA_AGE=423.0+/-354.2;ESP6500_EA_GTC=382,1853,2065;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015049.2:missense;ESP6500_GL=TRAK2;ESP6500_GRCh38_POSITION=2:201387816;ESP6500_GS=89;ESP6500_GTC=508,2628,3367;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015049.2:c.1583C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015049.2:p.(T528I);ESP6500_MAF=30.4302,23.3091,28.0178;ESP6500_PH=benign:0.082;ESP6500_TAC=3644,9362	GT:AD:DP:GQ:PL	0/1:27,39:66:99:936,0,823
chr2	201388133	rs2540330	T	C	111.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.156;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2540330;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|12/15|c.1398-132A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1199;p3_1000G_AF=0.239417;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=17304;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202252856;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:140,0,213
chr2	201388150	rs2540331	A	C	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.4;ReadPosRankSum=0.366;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2540331;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|12/15|c.1398-149T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1185;p3_1000G_AF=0.236621;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=17476;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202252873;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:66:66,0,165
chr2	201395180	rs144631526	AC	A	99.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=1.01;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs144631526;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|8/15|c.900+133delG||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=1208;p3_1000G_AF=0.241214;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=19843;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202259903;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,4:7:99:137,0,100
chr2	201395326	rs2256584	G	A	1014.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.7;SOR=1.04;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2256584;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|8/16|c.888C>T|p.His296His|1334/6527|888/2745|296/914||;p3_1000G_AA=A|||;p3_1000G_AC=4881;p3_1000G_AF=0.974641;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=17590;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202260049;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4065,341;ESP6500_AA_AGE=178.0+/-206.8;ESP6500_AA_GTC=1873,319,11;ESP6500_CDS_SIZES=NM_015049.2:2745;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=130;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015049.2:coding-synonymous;ESP6500_GL=TRAK2;ESP6500_GRCh38_POSITION=2:201395326;ESP6500_GTC=6170,322,11;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015049.2:c.888C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015049.2:p.(H296);ESP6500_MAF=0.0349,7.7394,2.6449;ESP6500_TAC=12662,344	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1043,114,0
chr2	201399433	rs13022344	C	T	497.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.35;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=1.22;SOR=0.391;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13022344;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|5/16|c.424G>A|p.Val142Ile|870/6527|424/2745|142/914||;p3_1000G_AA=C|||;p3_1000G_AC=2701;p3_1000G_AF=0.539337;p3_1000G_AFR_AF=0.3495;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=20096;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.663;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202264156;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1648,2758;ESP6500_AA_AGE=505.9+/-366.3;ESP6500_AA_GTC=303,1042,858;ESP6500_CDS_SIZES=NM_015049.2:2745;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=109;ESP6500_EA_AC=5787,2813;ESP6500_EA_AGE=676.2+/-403.3;ESP6500_EA_GTC=1935,1917,448;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015049.2:missense;ESP6500_GL=TRAK2;ESP6500_GRCh38_POSITION=2:201399433;ESP6500_GS=29;ESP6500_GTC=2238,2959,1306;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015049.2:c.424G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015049.2:p.(V142I);ESP6500_MAF=32.7093,37.4035,42.8341;ESP6500_PH=benign:0.003;ESP6500_TAC=7435,5571	GT:AD:DP:GQ:PL	0/1:11,21:32:99:526,0,307
chr2	201420377	rs4507084	A	G	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.857;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.852;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4507084;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|TRAK2|TRAK2|transcript|NM_015049.2|protein_coding|2/15|c.91+40T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3635;p3_1000G_AF=0.725839;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=21357;p3_1000G_EAS_AF=0.747;p3_1000G_EUR_AF=0.6859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202285100;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2908,1498;ESP6500_AA_AGE=477.2+/-357.8;ESP6500_AA_GTC=961,986,256;ESP6500_CDS_SIZES=NM_015049.2:2745;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=86;ESP6500_EA_AC=5979,2621;ESP6500_EA_AGE=423.1+/-354.3;ESP6500_EA_GTC=2063,1853,384;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015049.2:intron;ESP6500_GL=TRAK2;ESP6500_GRCh38_POSITION=2:201420377;ESP6500_GTC=3024,2839,640;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015049.2:c.91+40T>C;ESP6500_MAF=30.4767,33.9991,31.67;ESP6500_TAC=8887,4119	GT:AD:DP:GQ:PL	0/1:34,25:59:99:519,0,809
chr2	201473007	rs1019299	A	G	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.841;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.92;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.181;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1019299;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|STRADB|STRADB|transcript|NM_018571.5|protein_coding|5/12|c.246A>G|p.Thr82Thr|611/2298|246/1257|82/418||,G|synonymous_variant|LOW|STRADB|STRADB|transcript|NM_001206864.1|protein_coding|5/12|c.246A>G|p.Thr82Thr|611/2322|246/1134|82/377||;p3_1000G_AA=G|||;p3_1000G_AC=3557;p3_1000G_AF=0.710264;p3_1000G_AFR_AF=0.6732;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=14490;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.66;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202337730;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2916,1490;ESP6500_AA_AGE=476.3+/-357.6;ESP6500_AA_GTC=966,984,253;ESP6500_CDS_SIZES=NM_018571.5:1257,NM_001206864.1:1134;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=119;ESP6500_EA_AC=5792,2808;ESP6500_EA_AGE=442.6+/-360.1;ESP6500_EA_GTC=1937,1918,445;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018571.5:coding-synonymous,NM_001206864.1:coding-synonymous;ESP6500_GL=STRADB;ESP6500_GRCh38_POSITION=2:201473007;ESP6500_GTC=2903,2902,698;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018571.5:c.246A>G,NM_001206864.1:c.246A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018571.5:p.(T82),NM_001206864.1:p.(T82);ESP6500_MAF=32.6512,33.8175,33.0463;ESP6500_TAC=8708,4298	GT:AD:DP:GQ:PL	0/1:22,16:38:99:313,0,573
chr2	201477679	rs12990557	G	T	1074.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.525;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=1.904;MLEAC=1;MLEAF=0.5;MQ=57.14;MQRankSum=0.159;QD=14.14;ReadPosRankSum=-0.524;SOR=0.954;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12990557;dbSNPBuildID=121;ANN=T|synonymous_variant|LOW|STRADB|STRADB|transcript|NM_018571.5|protein_coding|8/12|c.609G>T|p.Leu203Leu|974/2298|609/1257|203/418||,T|synonymous_variant|LOW|STRADB|STRADB|transcript|NM_001206864.1|protein_coding|8/12|c.609G>T|p.Leu203Leu|974/2322|609/1134|203/377||;p3_1000G_AA=G|||;p3_1000G_AC=2363;p3_1000G_AF=0.471845;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=589;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.5865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202342402;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1179,3227;ESP6500_AA_AGE=415.4+/-337.2;ESP6500_AA_GTC=149,881,1173;ESP6500_CDS_SIZES=NM_018571.5:1257,NM_001206864.1:1134;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=127;ESP6500_EA_AC=5115,3477;ESP6500_EA_AGE=633.7+/-398.8;ESP6500_EA_GTC=1518,2079,699;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018571.5:coding-synonymous,NM_001206864.1:coding-synonymous;ESP6500_GL=STRADB;ESP6500_GRCh38_POSITION=2:201477679;ESP6500_GTC=1667,2960,1872;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_018571.5:c.609G>T,NM_001206864.1:c.609G>T;ESP6500_HGVS_PROTEIN_VAR=NM_018571.5:p.(L203),NM_001206864.1:p.(L203);ESP6500_MAF=40.4679,26.759,48.4228;ESP6500_TAC=6294,6704	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1103,0,923
chr2	201478079	rs2243791	T	C	676.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.274;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2243791;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|STRADB|STRADB|transcript|NM_018571.5|protein_coding|8/11|c.721-8T>C||||||,C|splice_region_variant&intron_variant|LOW|STRADB|STRADB|transcript|NM_001206864.1|protein_coding|8/11|c.721-8T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1216;p3_1000G_AF=0.242812;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=19562;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.3151;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202342802;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1043,3363;ESP6500_AA_AGE=377.5+/-322.5;ESP6500_AA_GTC=128,787,1288;ESP6500_CDS_SIZES=NM_018571.5:1257,NM_001206864.1:1134;ESP6500_CG=1.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=91;ESP6500_EA_AC=2616,5984;ESP6500_EA_AGE=417.6+/-352.5;ESP6500_EA_GTC=382,1852,2066;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018571.5:intron,NM_001206864.1:intron;ESP6500_GL=STRADB;ESP6500_GRCh38_POSITION=2:201478079;ESP6500_GTC=510,2639,3354;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018571.5:c.721-8T>C,NM_001206864.1:c.721-8T>C;ESP6500_MAF=30.4186,23.6723,28.1332;ESP6500_TAC=3659,9347	GT:AD:DP:GQ:PL	0/1:17,24:41:99:705,0,414
chr2	201479456	rs34469362;rs397987340;rs774198612	GT	G	196.27	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.126;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=1.65;SOR=1.022;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34469362;dbSNPBuildID=134,144,138;ANN=G|intron_variant|MODIFIER|STRADB|STRADB|transcript|NM_018571.5|protein_coding|10/11|c.1071-23delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|STRADB|STRADB|transcript|NM_001206864.1|protein_coding|10/11|c.1071-23delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,9:10:1:231,1,0
chr2	201487926	rs2714481	A	G	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.59;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.43;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2714481;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|15/15|c.5173-24T>C||||||,G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|12/12|c.*50-24T>C||||||,G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|14/14|c.1582-24T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2585;p3_1000G_AF=0.516174;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=17757;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202352649;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2993,1407;ESP6500_AA_GTC=1025,943,232;ESP6500_CDS_SIZES=NM_152525.5:1872,NM_001168221.1:5463,NM_001168216.1:1188;ESP6500_CG=-1.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=23;ESP6500_EA_AC=3424,5156;ESP6500_EA_GTC=695,2034,1561;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152525.5:intron,NM_001168221.1:intron,NM_001168216.1:intron;ESP6500_GL=ALS2CR11;ESP6500_GRCh38_POSITION=2:201487926;ESP6500_GTC=1720,2977,1793;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152525.5:c.1582-24T>C,NM_001168221.1:c.5173-24T>C,NM_001168216.1:c.*8018T>C;ESP6500_MAF=39.9068,31.9773,49.4376;ESP6500_TAC=6417,6563	GT:AD:DP:GQ:PL	0/1:8,6:14:99:214,0,258
chr2	201493226	rs2714482	A	C	2435.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.05;ReadPosRankSum=-0.617;SOR=0.619;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2714482;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|15/16|c.3115T>G|p.Cys1039Gly|3167/5706|3115/5463|1039/1820||,C|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|12/12|c.*49+2669T>G||||||,C|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|14/14|c.1581+2669T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4991;p3_1000G_AF=0.996605;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18915;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202357949;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,75:76:99:2464,218,0
chr2	201537527	rs3083390;rs397839229;rs55683837	AAC	A	52.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.35;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55683837,rs3083390;dbSNPBuildID=137,138,129;ANN=A|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|11/15|c.1163-50_1163-49delGT||||||,A|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|11/12|c.1162+8014_1162+8015delGT||||||,A|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|11/14|c.1163-50_1163-49delGT||||||,A|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168217.1|protein_coding|11/12|c.1163-50_1163-49delGT||||||;p3_1000G_AC=3324;p3_1000G_AF=0.663738;p3_1000G_AFR_AF=0.3457;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=15235;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.6799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202402250;p3_1000G_GRCH37_REF=AAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7147;p3_1000G_VT=INDEL;ESP6500_AA_AC=1636,2480;ESP6500_AA_GTC=388,860,810;ESP6500_CDS_SIZES=NM_152525.5:1872,NM_001168221.1:5463,NM_001168217.1:1653,NM_001168216.1:1188;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=19;ESP6500_EA_AC=5380,2638;ESP6500_EA_GTC=1866,1648,495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152525.5:intron,NM_001168221.1:intron,NM_001168217.1:intron,NM_001168216.1:intron;ESP6500_GL=ALS2CR11;ESP6500_GRCh38_POSITION=2:201537527;ESP6500_GTC=2254,2508,1305;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_152525.5:c.1163-50_1163-49del2,NM_001168221.1:c.1163-50_1163-49del2,NM_001168217.1:c.1163-50_1163-49del2,NM_001168216.1:c.1162+8014_1162+8015del2;ESP6500_MAF=32.901,39.7473,42.179;ESP6500_TAC=7016,5118	GT:AD:DP:GQ:PL	1/1:0,2:2:6:89,6,0
chr2	201545577	rs10804117	A	T	104.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.47;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10804117;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|11/16|c.1128T>A|p.His376Gln|1180/5706|1128/5463|376/1820||,T|missense_variant|MODERATE|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|11/13|c.1128T>A|p.His376Gln|1180/1771|1128/1188|376/395||,T|missense_variant|MODERATE|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|11/15|c.1128T>A|p.His376Gln|1180/2115|1128/1872|376/623||,T|missense_variant|MODERATE|ALS2CR11|ALS2CR11|transcript|NM_001168217.1|protein_coding|11/13|c.1128T>A|p.His376Gln|1180/3259|1128/1653|376/550||;p3_1000G_AA=T|||;p3_1000G_AC=2572;p3_1000G_AF=0.513578;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=11023;p3_1000G_EAS_AF=0.7569;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202410300;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1475,2929;ESP6500_AA_AGE=666.5+/-401.7;ESP6500_AA_GTC=255,965,982;ESP6500_CDS_SIZES=NM_152525.5:1872,NM_001168221.1:5463,NM_001168217.1:1653,NM_001168216.1:1188;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=59;ESP6500_EA_AC=3493,5085;ESP6500_EA_AGE=625.0+/-397.7;ESP6500_EA_GTC=727,2039,1523;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152525.5:missense,NM_001168221.1:missense,NM_001168217.1:missense,NM_001168216.1:missense;ESP6500_GL=ALS2CR11;ESP6500_GRCh38_POSITION=2:201545577;ESP6500_GS=24,24,24,24;ESP6500_GTC=982,3004,2505;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_152525.5:c.1128T>A,NM_001168221.1:c.1128T>A,NM_001168217.1:c.1128T>A,NM_001168216.1:c.1128T>A;ESP6500_HGVS_PROTEIN_VAR=NM_152525.5:p.(H376Q),NM_001168221.1:p.(H376Q),NM_001168217.1:p.(H376Q),NM_001168216.1:p.(H376Q);ESP6500_MAF=40.7204,33.4923,38.2684;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=4968,8014	GT:AD:DP:GQ:PL	1/1:0,6:6:18:133,18,0
chr2	201565705	.	ATTTTTT	A	38.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.524;SOR=0.061;DEL;HET;VARTYPE=DEL;ANN=A|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|9/15|c.977+18_977+23delAAAAAA||||||,A|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|9/12|c.977+18_977+23delAAAAAA||||||,A|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|9/14|c.977+18_977+23delAAAAAA||||||,A|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168217.1|protein_coding|9/12|c.977+18_977+23delAAAAAA||||||	GT:AD:DP:GQ:PL	0/1:3,2:5:52:76,0,52
chr2	201582286	rs13425990	C	T	349.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13425990;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|4/15|c.517-69G>A||||||,T|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|4/12|c.517-69G>A||||||,T|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|4/14|c.517-69G>A||||||,T|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168217.1|protein_coding|4/12|c.517-69G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2531;p3_1000G_AF=0.505391;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=18007;p3_1000G_EAS_AF=0.747;p3_1000G_EUR_AF=0.4781;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202447009;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:378,33,0
chr2	201604638	rs12474206	C	T	450.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.52;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12474206;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|2/16|c.291G>A|p.Thr97Thr|343/5706|291/5463|97/1820||,T|synonymous_variant|LOW|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|2/13|c.291G>A|p.Thr97Thr|343/1771|291/1188|97/395||,T|synonymous_variant|LOW|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|2/15|c.291G>A|p.Thr97Thr|343/2115|291/1872|97/623||,T|synonymous_variant|LOW|ALS2CR11|ALS2CR11|transcript|NM_001168217.1|protein_coding|2/13|c.291G>A|p.Thr97Thr|343/3259|291/1653|97/550||;p3_1000G_AA=T|||;p3_1000G_AC=4896;p3_1000G_AF=0.977636;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=16405;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202469361;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4156,250;ESP6500_AA_AGE=144.2+/-179.2;ESP6500_AA_GTC=1962,232,9;ESP6500_CDS_SIZES=NM_152525.5:1872,NM_001168221.1:5463,NM_001168217.1:1653,NM_001168216.1:1188;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=149;ESP6500_EA_AC=8581,17;ESP6500_EA_AGE=12.6+/-44.7;ESP6500_EA_GTC=4282,17,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152525.5:coding-synonymous,NM_001168221.1:coding-synonymous,NM_001168217.1:coding-synonymous,NM_001168216.1:coding-synonymous;ESP6500_GL=ALS2CR11;ESP6500_GRCh38_POSITION=2:201604638;ESP6500_GTC=6244,249,9;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152525.5:c.291G>A,NM_001168221.1:c.291G>A,NM_001168217.1:c.291G>A,NM_001168216.1:c.291G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152525.5:p.(T97),NM_001168221.1:p.(T97),NM_001168217.1:p.(T97),NM_001168216.1:p.(T97);ESP6500_MAF=0.1977,5.6741,2.0532;ESP6500_TAC=12737,267	GT:AD:DP:GQ:PL	1/1:0,17:17:51:479,51,0
chr2	201604749	rs7572583	A	G	180.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.5;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7572583;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|1/15|c.232-52T>C||||||,G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|1/12|c.232-52T>C||||||,G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|1/14|c.232-52T>C||||||,G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168217.1|protein_coding|1/12|c.232-52T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4896;p3_1000G_AF=0.977636;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=16076;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202469472;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2501,153;ESP6500_AA_GTC=1181,139,7;ESP6500_CDS_SIZES=NM_152525.5:1872,NM_001168221.1:5463,NM_001168217.1:1653,NM_001168216.1:1188;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=4603,11;ESP6500_EA_GTC=2296,11,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152525.5:intron,NM_001168221.1:intron,NM_001168217.1:intron,NM_001168216.1:intron;ESP6500_GL=ALS2CR11;ESP6500_GRCh38_POSITION=2:201604749;ESP6500_GTC=3477,150,7;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152525.5:c.232-52T>C,NM_001168221.1:c.232-52T>C,NM_001168217.1:c.232-52T>C,NM_001168216.1:c.232-52T>C;ESP6500_MAF=0.2384,5.7649,2.2565;ESP6500_TAC=7104,164	GT:AD:DP:GQ:PL	1/1:0,5:5:15:209,15,0
chr2	201604810	rs7560158	T	G	96.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7560158;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168221.1|protein_coding|1/15|c.232-113A>C||||||,G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168216.1|protein_coding|1/12|c.232-113A>C||||||,G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_152525.5|protein_coding|1/14|c.232-113A>C||||||,G|intron_variant|MODIFIER|ALS2CR11|ALS2CR11|transcript|NM_001168217.1|protein_coding|1/12|c.232-113A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4372;p3_1000G_AF=0.873003;p3_1000G_AFR_AF=0.615;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=17386;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.9533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202469533;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:124,9,0
chr2	201627272	rs2540450;257314	G	A	746.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2540450;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_001044385.2|protein_coding|10/11|c.1037+49C>T||||||,A|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_152388.3|protein_coding|10/11|c.1013+49C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1812;p3_1000G_AF=0.361821;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=16466;p3_1000G_EAS_AF=0.6478;p3_1000G_EUR_AF=0.331;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202491995;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=673,2997;ESP6500_AA_GTC=78,517,1240;ESP6500_CDS_SIZES=NM_152388.3:1203,NM_001044385.2:1227;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=2311,5875;ESP6500_EA_GTC=354,1603,2136;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152388.3:intron,NM_001044385.2:intron;ESP6500_GL=TMEM237;ESP6500_GRCh38_POSITION=2:201627272;ESP6500_GTC=432,2120,3376;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152388.3:c.1013+49C>T,NM_001044385.2:c.1037+49C>T;ESP6500_MAF=28.2311,18.3379,25.1687;ESP6500_TAC=2984,8872;CLINVAR_AF_ESP=0.2517;CLINVAR_AF_EXAC=0.33170;CLINVAR_AF_TGP=0.3618;CLINVAR_ALLELEID=250479;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.201627272G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TMEM237:65062;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2540450	GT:AD:DP:GQ:PL	1/1:0,23:23:69:775,69,0
chr2	201629907	rs377654281	AT	A	17.8	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.264;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=-2.638;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs377654281;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_001044385.2|protein_coding|6/11|c.554-56delA||||||,A|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_152388.3|protein_coding|6/11|c.530-56delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=566;p3_1000G_AF=0.113019;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=17354;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.0606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202494630;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,3:10:55:55,0,167
chr2	201640992	rs12470287	C	A	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=1.66;SOR=1.296;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12470287;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding||c.*4218G>T|||||3882|,A|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_001044385.2|protein_coding|1/11|c.43-68G>T||||||,A|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_152388.3|protein_coding|1/11|c.19-68G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=657;p3_1000G_AF=0.13119;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=15594;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202505715;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1002;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=294,1090;ESP6500_AA_GTC=44,206,442;ESP6500_CDS_SIZES=NM_152388.3:1203,NM_001044385.2:1227;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=115,3067;ESP6500_EA_GTC=5,105,1481;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152388.3:intron,NM_001044385.2:intron;ESP6500_GL=TMEM237;ESP6500_GRCh38_POSITION=2:201640992;ESP6500_GTC=49,311,1923;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_152388.3:c.19-68G>T,NM_001044385.2:c.43-68G>T;ESP6500_MAF=3.6141,21.2428,8.9575;ESP6500_TAC=409,4157	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,12:23:99:0|1:201640992_C_A:415,0,262
chr2	201641017	rs2540424	T	A	489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.15;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2540424;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding||c.*4193A>T|||||3857|,A|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_001044385.2|protein_coding|1/11|c.43-93A>T||||||,A|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_152388.3|protein_coding|1/11|c.19-93A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4059;p3_1000G_AF=0.810503;p3_1000G_AFR_AF=0.8041;p3_1000G_AMR_AF=0.7392;p3_1000G_AN=5008;p3_1000G_DP=13383;p3_1000G_EAS_AF=0.9861;p3_1000G_EUR_AF=0.7227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202505740;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,12:12:36:1|1:201640992_C_A:518,36,0
chr2	201642509	rs2241135	G	C	751.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.206;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=-0.86;SOR=1.098;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241135;dbSNPBuildID=98;ANN=C|downstream_gene_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding||c.*2701C>G|||||2365|,C|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_001044385.2|protein_coding|1/11|c.42+850C>G||||||,C|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_152388.3|protein_coding|1/11|c.18+100C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=449;p3_1000G_AF=0.0896565;p3_1000G_AFR_AF=0.18;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=17509;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202507232;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,28:46:99:780,0,406
chr2	201642630	rs2241133;137672	G	C	846.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-2.209;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241133;dbSNPBuildID=98;ANN=C|5_prime_UTR_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_152388.3|protein_coding|1/12|c.-4C>G|||||4|,C|downstream_gene_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding||c.*2580C>G|||||2244|,C|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_001044385.2|protein_coding|1/11|c.42+729C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=558;p3_1000G_AF=0.111422;p3_1000G_AFR_AF=0.1846;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=13611;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.0239;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202507353;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=659,2985;ESP6500_AA_GTC=60,539,1223;ESP6500_CDS_SIZES=NM_152388.3:1203,NM_001044385.2:1227;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=41;ESP6500_EA_AC=99,8037;ESP6500_EA_GTC=0,99,3969;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152388.3:utr-5,NM_001044385.2:intron;ESP6500_GL=TMEM237;ESP6500_GRCh38_POSITION=2:201642630;ESP6500_GTC=60,638,5192;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_152388.3:c.-4C>G,NM_001044385.2:c.42+729C>G;ESP6500_MAF=1.2168,18.0845,6.4346;ESP6500_TAC=758,11022;CLINVAR_AF_ESP=0.0644;CLINVAR_AF_EXAC=0.05346;CLINVAR_AF_TGP=0.1114;CLINVAR_ALLELEID=141375;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.201642630G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TMEM237:65062;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2241133	GT:AD:DP:GQ:PL	0/1:21,30:51:99:875,0,487
chr2	201643259	rs6723016	T	C	337.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.06;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.394;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6723016;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_152388.3|protein_coding||c.-633A>G|||||315|,C|downstream_gene_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding||c.*1951A>G|||||1615|,C|intron_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_001044385.2|protein_coding|1/11|c.42+100A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2609;p3_1000G_AF=0.520966;p3_1000G_AFR_AF=0.4887;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=11319;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.5;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202507982;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:366,0,319
chr2	201647726	rs11894115	C	T	847.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.928;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=4.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.604;SOR=0.767;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11894115;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|MPP4|MPP4|transcript|NM_033066.2|protein_coding|21/22|c.1684G>A|p.Val562Ile|1892/2458|1684/1914|562/637||,T|upstream_gene_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_001044385.2|protein_coding||c.-4326G>A|||||4197|,T|upstream_gene_variant|MODIFIER|TMEM237|TMEM237|transcript|NM_152388.3|protein_coding||c.-5100G>A|||||4782|;p3_1000G_AA=T|||;p3_1000G_AC=919;p3_1000G_AF=0.183506;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=18555;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.0278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202512449;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=903,2837;ESP6500_AA_GTC=117,669,1084;ESP6500_CDS_SIZES=NM_033066.2:1914;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=163;ESP6500_EA_AC=112,8106;ESP6500_EA_GTC=0,112,3997;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033066.2:missense;ESP6500_GL=MPP4;ESP6500_GRCh38_POSITION=2:201647726;ESP6500_GS=29;ESP6500_GTC=117,781,5081;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033066.2:c.1684G>A;ESP6500_HGVS_PROTEIN_VAR=NM_033066.2:p.(V562I);ESP6500_MAF=1.3629,24.1444,8.488;ESP6500_PH=benign:0.0;ESP6500_TAC=1015,10943	GT:AD:DP:GQ:PL	0/1:44,34:78:99:876,0,1319
chr2	201649478	rs10194353	C	T	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.782;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=5.497;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.431;SOR=2.419;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10194353;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|20/21|c.1584+98G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=923;p3_1000G_AF=0.184305;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=23792;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202514201;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:253,0,252
chr2	201656381	rs76603204	A	G	329.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.59;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=1.22;SOR=0.43;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76603204;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|16/21|c.1130-13T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=208;p3_1000G_AF=0.0415335;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19416;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202521104;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1,4065;ESP6500_AA_GTC=0,1,2032;ESP6500_CDS_SIZES=NM_033066.2:1914;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=12;ESP6500_EA_AC=4,8082;ESP6500_EA_GTC=0,4,4039;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033066.2:intron;ESP6500_GL=MPP4;ESP6500_GRCh38_POSITION=2:201656381;ESP6500_GTC=0,5,6071;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033066.2:c.1130-13T>C;ESP6500_MAF=0.0495,0.0246,0.0411;ESP6500_TAC=5,12147	GT:AD:DP:GQ:PL	0/1:10,12:22:99:358,0,286
chr2	201664107	rs398080988;rs398105198;rs74887695;~rs74887695	A	AT	430.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.943;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.748;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=1.05;SOR=0.387;INS;HET;VARTYPE=INS;dbSNP138_ID=rs74887695;dbSNPBuildID=137,138,138;ANN=AT|splice_region_variant&intron_variant|LOW|MPP4|MPP4|transcript|NM_033066.2|protein_coding|13/21|c.1052-7dupA||||||;p3_1000G_AA=TTTTC|TTTTT|TTTTTT|complex_insertion;p3_1000G_AC=1607;p3_1000G_AF=0.320887;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=14468;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.498;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202528830;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=INDEL;ESP6500_AA_AC=396,3064;ESP6500_AA_GTC=31,334,1365;ESP6500_CDS_SIZES=NM_033066.2:1914;ESP6500_CG=1.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=24;ESP6500_EA_AC=3937,3821;ESP6500_EA_GTC=1044,1849,986;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033066.2:intron;ESP6500_GL=MPP4;ESP6500_GRCh38_POSITION=2:201664107;ESP6500_GTC=1075,2183,2351;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_033066.2:c.1052-7_1052-6insA;ESP6500_MAF=49.2524,11.4451,38.6254;ESP6500_TAC=4333,6885	GT:AD:DP:GQ:PL	0/1:7,17:24:99:468,0,151
chr2	201666413	rs17384314	G	C	668.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.198;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.29;ReadPosRankSum=-1.622;SOR=0.877;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17384314;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|12/21|c.1013-41C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1396;p3_1000G_AF=0.278754;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=16205;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202531136;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=420,3190;ESP6500_AA_GTC=32,356,1417;ESP6500_CDS_SIZES=NM_033066.2:1914;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=38;ESP6500_EA_AC=3243,4817;ESP6500_EA_GTC=639,1965,1426;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033066.2:intron;ESP6500_GL=MPP4;ESP6500_GRCh38_POSITION=2:201666413;ESP6500_GTC=671,2321,2843;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_033066.2:c.1013-41C>G;ESP6500_MAF=40.2357,11.6343,31.3882;ESP6500_TAC=3663,8007	GT:AD:DP:GQ:PL	0/1:8,22:30:99:697,0,182
chr2	201666541	rs62193398	T	C	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.187;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=5.907;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-1.564;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62193398;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|12/21|c.1013-169A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1398;p3_1000G_AF=0.279153;p3_1000G_AFR_AF=0.0779;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=12179;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.4135;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202531264;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,15:27:99:365,0,284
chr2	201669557	rs376804817;rs533196233	AATGACTATCACACTACT	A	53.7	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs376804817;dbSNPBuildID=138,142;ANN=A|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|12/21|c.1012+159_1012+175delAGTAGTGTGATAGTCAT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:201669557_AATGACTATCACACTACT_A:90,6,0
chr2	201669580	rs145833090	TATAGGAAGAGCTTAA	T	87.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.08;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs145833090;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|12/21|c.1012+138_1012+152delTTAAGCTCTTCCTAT||||||;p3_1000G_AC=4067;p3_1000G_AF=0.812101;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=11607;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.8141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202534303;p3_1000G_GRCH37_REF=TATAGGAAGAGCTTAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:9:1|1:201669557_AATGACTATCACACTACT_A:124,9,0
chr2	201673577	rs11375204	G	GA	362.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.91;SOR=0.976;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs72544016,rs11375204;dbSNPBuildID=138;ANN=GA|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|11/21|c.994+1629dupT||||||;p3_1000G_AA=|||unknown(LONG_INSERTION);p3_1000G_AC=2007;p3_1000G_AF=0.400759;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=17441;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.5149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202538300;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:42:400,42,0
chr2	201681390	rs1208073	T	C	893.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.4;SOR=3.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1208073;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|9/21|c.732+106A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4889;p3_1000G_AF=0.976238;p3_1000G_AFR_AF=0.9153;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=21960;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202546113;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:922,75,0
chr2	201682805	rs16838004	A	T	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.016;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.649;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.399;SOR=0.654;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16838004;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|8/21|c.660+26T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=695;p3_1000G_AF=0.138778;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=17476;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202547528;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=344,3444;ESP6500_AA_GTC=15,314,1565;ESP6500_CDS_SIZES=NM_033066.2:1914;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=79;ESP6500_EA_AC=425,7831;ESP6500_EA_GTC=11,403,3714;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033066.2:intron;ESP6500_GL=MPP4;ESP6500_GRCh38_POSITION=2:201682805;ESP6500_GTC=26,717,5279;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_033066.2:c.660+26T>A;ESP6500_MAF=5.1478,9.0813,6.3849;ESP6500_TAC=769,11275	GT:AD:DP:GQ:PL	0/1:19,24:43:99:540,0,401
chr2	201690409	rs2287050	T	C	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.15;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.589;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287050;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding|3/21|c.202-130A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1586;p3_1000G_AF=0.316693;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=17628;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202555132;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,5:9:99:156,0,115
chr2	201692979	rs6725443	C	T	2513.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=0.867;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6725443;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|MPP4|MPP4|transcript|NM_033066.2|protein_coding|3/22|c.130G>A|p.Gly44Ser|338/2458|130/1914|44/637||;p3_1000G_AA=T|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20231;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202557702;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3667,343;ESP6500_AA_GTC=1680,307,18;ESP6500_CDS_SIZES=NM_033066.2:1914;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=73;ESP6500_EA_AC=8369,3;ESP6500_EA_GTC=4183,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033066.2:missense;ESP6500_GL=MPP4;ESP6500_GRCh38_POSITION=2:201692979;ESP6500_GS=56;ESP6500_GTC=5863,310,18;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033066.2:c.130G>A;ESP6500_HGVS_PROTEIN_VAR=NM_033066.2:p.(G44S);ESP6500_MAF=0.0358,8.5536,2.7944;ESP6500_PH=benign:0.007;ESP6500_TAC=12036,346	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2542,255,0
chr2	201702018	rs7603563	T	C	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7603563;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|MPP4|MPP4|transcript|NM_033066.2|protein_coding||c.-8064A>G|||||3324|,C|intron_variant|MODIFIER|ALS2|ALS2|transcript|NM_020919.3|protein_coding|33/33|c.4936-129A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4535;p3_1000G_AF=0.905551;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=18669;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202566741;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr2	201705269	rs3219171	A	T	441.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3219171;dbSNPBuildID=106;ANN=T|intron_variant|MODIFIER|ALS2|ALS2|transcript|NM_020919.3|protein_coding|30/33|c.4627-69T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4537;p3_1000G_AF=0.90595;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=18557;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202569992;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1132,252;ESP6500_AA_GTC=462,208,22;ESP6500_CDS_SIZES=NM_020919.3:4974;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=52;ESP6500_EA_AC=2921,261;ESP6500_EA_GTC=1340,241,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020919.3:intron;ESP6500_GL=ALS2;ESP6500_GRCh38_POSITION=2:201705269;ESP6500_GTC=1802,449,32;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020919.3:c.4627-69T>A;ESP6500_MAF=8.2024,18.2081,11.2352;ESP6500_TAC=4053,513	GT:AD:DP:GQ:PL	1/1:0,13:13:39:470,39,0
chr2	201705509	rs3219170;261379	A	G	64.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3219170;dbSNPBuildID=106;ANN=G|intron_variant|MODIFIER|ALS2|ALS2|transcript|NM_020919.3|protein_coding|29/33|c.4581-48T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4537;p3_1000G_AF=0.90595;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=15519;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.9165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202570232;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2964,636;ESP6500_AA_GTC=1215,534,51;ESP6500_CDS_SIZES=NM_020919.3:4974;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=26;ESP6500_EA_AC=7469,645;ESP6500_EA_GTC=3437,595,25;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020919.3:intron;ESP6500_GL=ALS2;ESP6500_GRCh38_POSITION=2:201705509;ESP6500_GTC=4652,1129,76;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020919.3:c.4581-48T>C;ESP6500_MAF=7.9492,17.6667,10.9356;ESP6500_TAC=10433,1281;CLINVAR_ALLELEID=250492;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.201705509A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ALS2:57679;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3219170	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr2	201710102	rs1210940	C	T	401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1210940;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|ALS2|ALS2|transcript|NM_020919.3|protein_coding|26/33|c.4123-64G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4899;p3_1000G_AF=0.978235;p3_1000G_AFR_AF=0.9213;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20263;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202574825;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:430,39,0
chr2	201711098	rs3219168;261377	G	A	657.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3219168;dbSNPBuildID=106;ANN=A|synonymous_variant|LOW|ALS2|ALS2|transcript|NM_020919.3|protein_coding|26/34|c.4015C>T|p.Leu1339Leu|4371/6918|4015/4974|1339/1657||;p3_1000G_AA=A|||;p3_1000G_AC=4534;p3_1000G_AF=0.905351;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=20026;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.9165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202575821;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3042,656;ESP6500_AA_GTC=1245,552,52;ESP6500_CDS_SIZES=NM_020919.3:4974;ESP6500_CG=-8.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=78;ESP6500_EA_AC=7517,649;ESP6500_EA_GTC=3458,601,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020919.3:coding-synonymous;ESP6500_GL=ALS2;ESP6500_GRCh38_POSITION=2:201711098;ESP6500_GTC=4703,1153,76;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020919.3:c.4015C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020919.3:p.(L1339);ESP6500_MAF=7.9476,17.7393,10.9997;ESP6500_TAC=10559,1305;CLINVAR_ALLELEID=250494;CLINVAR_CLNDISDB=MedGen:CN169291|MedGen:CN169374|MedGen:CN239196;CLINVAR_CLNDN=ALS2-Related_Disorders|not_specified|Amyotrophic_Lateral_Sclerosis,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.201711098G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27513;CLINVAR_GENEINFO=ALS2:57679;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3219168	GT:AD:DP:GQ:PL	1/1:0,21:21:63:686,63,0
chr2	201711184	rs2882231	A	G	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-0.19;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2882231;dbSNPBuildID=101;ANN=G|sequence_feature|MODERATE|ALS2|ALS2|modified-residue:phosphoserine|NM_020919.3|protein_coding|25/33|c.4005-76T>C||||||,G|intron_variant|MODIFIER|ALS2|ALS2|transcript|NM_020919.3|protein_coding|25/33|c.4005-76T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2535;p3_1000G_AF=0.50619;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=21461;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.663;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202575907;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:135,0,216
chr2	201715647	rs3219167;261375	G	A	502.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.503;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.109;SOR=0.801;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3219167;dbSNPBuildID=106;ANN=A|sequence_feature|MODERATE|ALS2|ALS2|modified-residue:phosphoserine|NM_020919.3|protein_coding|25/33|c.4004+25C>T||||||,A|intron_variant|MODIFIER|ALS2|ALS2|transcript|NM_020919.3|protein_coding|25/33|c.4004+25C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4027;p3_1000G_AF=0.804113;p3_1000G_AFR_AF=0.7723;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=20696;p3_1000G_EAS_AF=0.7361;p3_1000G_EUR_AF=0.8509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202580370;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2994,812;ESP6500_AA_GTC=1171,652,80;ESP6500_CDS_SIZES=NM_020919.3:4974;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=61;ESP6500_EA_AC=6895,1351;ESP6500_EA_GTC=2876,1143,104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020919.3:intron;ESP6500_GL=ALS2;ESP6500_GRCh38_POSITION=2:201715647;ESP6500_GTC=4047,1795,184;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020919.3:c.4004+25C>T;ESP6500_MAF=16.3837,21.3347,17.9472;ESP6500_TAC=9889,2163;CLINVAR_ALLELEID=250496;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.201715647G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ALS2:57679;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3219167	GT:AD:DP:GQ:PL	0/1:25,23:48:99:531,0,756
chr2	201728557	rs3219161;261369	G	A	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-1.795;SOR=0.783;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3219161;dbSNPBuildID=106;ANN=A|synonymous_variant|LOW|ALS2|ALS2|transcript|NM_020919.3|protein_coding|15/34|c.2796C>T|p.Ser932Ser|3152/6918|2796/4974|932/1657||;p3_1000G_AA=g|||;p3_1000G_AC=576;p3_1000G_AF=0.115016;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.0418;p3_1000G_AN=5008;p3_1000G_DP=18748;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.0656;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202593280;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=230,3604;ESP6500_AA_GTC=7,216,1694;ESP6500_CDS_SIZES=NM_020919.3:4974;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=106;ESP6500_EA_AC=695,7565;ESP6500_EA_GTC=26,643,3461;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020919.3:coding-synonymous;ESP6500_GL=ALS2;ESP6500_GRCh38_POSITION=2:201728557;ESP6500_GTC=33,859,5155;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020919.3:c.2796C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020919.3:p.(S932);ESP6500_MAF=8.414,5.999,7.6484;ESP6500_TAC=925,11169;CLINVAR_AF_ESP=0.0765;CLINVAR_AF_EXAC=0.09785;CLINVAR_AF_TGP=0.1150;CLINVAR_ALLELEID=250501;CLINVAR_CLNDISDB=MedGen:CN169291|MedGen:CN169374|MedGen:CN239196;CLINVAR_CLNDN=ALS2-Related_Disorders|not_specified|Amyotrophic_Lateral_Sclerosis,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.201728557G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27612;CLINVAR_GENEINFO=ALS2:57679;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3219161	GT:AD:DP:GQ:PL	0/1:19,11:30:99:268,0,493
chr2	201729206	rs113406595	GA	G	38.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.464;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=-2.074;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs113406595;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|ALS2|ALS2|transcript|NM_020919.3|protein_coding|13/33|c.2581-24delT||||||	GT:AD:DP:GQ:PL	0/1:6,4:10:76:76,0,129
chr2	201733390	rs2276615;261368	C	T	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.348;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.772;SOR=0.645;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276615;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ALS2|ALS2|transcript|NM_020919.3|protein_coding|13/34|c.2466G>A|p.Val822Val|2822/6918|2466/4974|822/1657||;p3_1000G_AA=C|||;p3_1000G_AC=1865;p3_1000G_AF=0.372404;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=18412;p3_1000G_EAS_AF=0.3502;p3_1000G_EUR_AF=0.5875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202598113;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=592,3032;ESP6500_AA_GTC=53,486,1273;ESP6500_CDS_SIZES=NM_020919.3:4974;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=82;ESP6500_EA_AC=4922,3236;ESP6500_EA_GTC=1489,1944,646;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020919.3:coding-synonymous;ESP6500_GL=ALS2;ESP6500_GRCh38_POSITION=2:201733390;ESP6500_GTC=1542,2430,1919;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020919.3:c.2466G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020919.3:p.(V822);ESP6500_MAF=39.6666,16.3355,46.8002;ESP6500_TAC=5514,6268;CLINVAR_AF_ESP=0.4680;CLINVAR_AF_TGP=0.3724;CLINVAR_ALLELEID=250502;CLINVAR_CLNDISDB=MedGen:CN169291|MedGen:CN169374|MedGen:CN239196;CLINVAR_CLNDN=ALS2-Related_Disorders|not_specified|Amyotrophic_Lateral_Sclerosis,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.201733390C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27524;CLINVAR_GENEINFO=ALS2:57679;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2276615	GT:AD:DP:GQ:PL	0/1:20,17:37:99:383,0,593
chr2	201741916	rs3731703	G	A	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.881;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.409;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731703;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ALS2|ALS2|transcript|NM_020919.3|protein_coding|10/33|c.2171-62C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2174;p3_1000G_AF=0.434105;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=20778;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202606639;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:155,0,179
chr2	201760892	rs3219156;261364	C	T	2690.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.22;SOR=1.952;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3219156;dbSNPBuildID=106;ANN=T|missense_variant|MODERATE|ALS2|ALS2|transcript|NM_020919.3|protein_coding|4/34|c.1102G>A|p.Val368Met|1458/6918|1102/4974|368/1657||,T|missense_variant|MODERATE|ALS2|ALS2|transcript|NM_001135745.1|protein_coding|4/4|c.1102G>A|p.Val368Met|1458/2892|1102/1191|368/396||;p3_1000G_AA=T|||;p3_1000G_AC=4490;p3_1000G_AF=0.896565;p3_1000G_AFR_AF=0.7564;p3_1000G_AMR_AF=0.9251;p3_1000G_AN=5008;p3_1000G_DP=18874;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202625615;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2997,837;ESP6500_AA_GTC=1161,675,81;ESP6500_CDS_SIZES=NM_020919.3:4974,NM_001135745.1:1191;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=98;ESP6500_EA_AC=7442,842;ESP6500_EA_GTC=3339,764,39;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020919.3:missense,NM_001135745.1:missense;ESP6500_GL=ALS2;ESP6500_GRCh38_POSITION=2:201760892;ESP6500_GS=21,21;ESP6500_GTC=4500,1439,120;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020919.3:c.1102G>A,NM_001135745.1:c.1102G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020919.3:p.(V368M),NM_001135745.1:p.(V368M);ESP6500_MAF=10.1642,21.831,13.8554;ESP6500_PH=benign:0.006,benign:0.006;ESP6500_TAC=10439,1679;CLINVAR_ALLELEID=250505;CLINVAR_CLNDISDB=MedGen:CN169291|MedGen:CN169374|MedGen:CN239196;CLINVAR_CLNDN=ALS2-Related_Disorders|not_specified|Amyotrophic_Lateral_Sclerosis,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.201760892C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27532|UniProtKB_(protein):Q96Q42#VAR_015656;CLINVAR_GENEINFO=ALS2:57679;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3219156	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2719,243,0
chr2	201823570	rs4675229	A	G	1066.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=2.546;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4675229;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CDK15|CDK15|transcript|NM_001261435.1|protein_coding|5/13|c.544-95A>G||||||,G|intron_variant|MODIFIER|CDK15|CDK15|transcript|NM_139158.2|protein_coding|5/13|c.391-95A>G||||||,G|intron_variant|MODIFIER|CDK15|CDK15|transcript|NM_001261436.1|protein_coding|5/12|c.544-95A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4628;p3_1000G_AF=0.924121;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=21503;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202688293;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1095,87,0
chr2	201847372	rs917958	A	C	302.79	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=27.53;ReadPosRankSum=1.49;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs917958;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CDK15|CDK15|transcript|NM_001261435.1|protein_coding|8/13|c.852-9A>C||||||,C|intron_variant|MODIFIER|CDK15|CDK15|transcript|NM_139158.2|protein_coding|8/13|c.699-9A>C||||||,C|intron_variant|MODIFIER|CDK15|CDK15|transcript|NM_001261436.1|protein_coding|8/12|c.852-9A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4997;p3_1000G_AF=0.997804;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17151;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202712095;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4355,51;ESP6500_AA_AGE=50.9+/-86.3;ESP6500_AA_GTC=2153,49,1;ESP6500_CDS_SIZES=NM_139158.2:1155,NM_001261436.1:1203,NM_001261435.1:1290;ESP6500_CG=5.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=109;ESP6500_EA_AC=8599,1;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139158.2:intron,NM_001261436.1:intron,NM_001261435.1:intron;ESP6500_GL=CDK15;ESP6500_GRCh38_POSITION=2:201847372;ESP6500_GTC=6452,50,1;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_139158.2:c.699-9A>C,NM_001261436.1:c.852-9A>C,NM_001261435.1:c.852-9A>C;ESP6500_MAF=0.0116,1.1575,0.3998;ESP6500_TAC=12954,52	GT:AD:DP:GQ:PL	1/1:1,10:11:23:331,23,0
chr2	202090731	rs1568535	G	C	663.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.94;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1568535;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|2/23|c.370-39G>C||||||,C|intron_variant|MODIFIER|LOC729224|LOC729224|transcript|NR_135244.1|pseudogene|3/3|n.2232-2791C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3527;p3_1000G_AF=0.704273;p3_1000G_AFR_AF=0.736;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=18807;p3_1000G_EAS_AF=0.5139;p3_1000G_EUR_AF=0.8101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202955454;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:692,57,0
chr2	202097587	rs772864095	CTT	C	16.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.524;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|5/23|c.828+25_828+26delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LOC729224|LOC729224|transcript|NR_135244.1|pseudogene|3/3|n.2232-9649_2232-9648delAA||||||	GT:AD:DP:GQ:PL	0/1:4,2:6:54:54,0,141
chr2	202097603	rs760634178	T	C	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=1.83;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|5/23|c.828+26T>C||||||,C|intron_variant|MODIFIER|LOC729224|LOC729224|transcript|NR_135244.1|pseudogene|3/3|n.2232-9663A>G||||||	GT:AD:DP:GQ:PL	0/1:2,4:6:31:157,0,31
chr2	202097635	rs6435124	G	C	99.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6435124;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|5/23|c.828+58G>C||||||,C|intron_variant|MODIFIER|LOC729224|LOC729224|transcript|NR_135244.1|pseudogene|3/3|n.2232-9695C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.5908;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=16556;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.5129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202962358;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:127,9,0
chr2	202099657	rs2882486	G	A	1519.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.67;SOR=0.808;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2882486;dbSNPBuildID=101;ANN=A|synonymous_variant|LOW|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|6/24|c.873G>A|p.Glu291Glu|1248/4145|873/3546|291/1181||,A|intron_variant|MODIFIER|LOC729224|LOC729224|transcript|NR_135244.1|pseudogene|3/3|n.2232-11717C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2366;p3_1000G_AF=0.472444;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=20954;p3_1000G_EAS_AF=0.2391;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202964380;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1548,158,0
chr2	202099805	rs2350722	T	C	395.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2350722;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|6/23|c.1012+9T>C||||||,C|intron_variant|MODIFIER|LOC729224|LOC729224|transcript|NR_135244.1|pseudogene|3/3|n.2232-11865A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2366;p3_1000G_AF=0.472444;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=20849;p3_1000G_EAS_AF=0.2391;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202964528;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:424,36,0
chr2	202100263	rs6755174	C	A	499.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6755174;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|6/23|c.1013-44C>A||||||,A|intron_variant|MODIFIER|LOC729224|LOC729224|transcript|NR_135244.1|pseudogene|3/3|n.2232-12323G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2366;p3_1000G_AF=0.472444;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=19555;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202964986;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:528,54,0
chr2	202100499	rs6726731	A	G	267.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6726731;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|7/23|c.1155+50A>G||||||,G|intron_variant|MODIFIER|LOC729224|LOC729224|transcript|NR_135244.1|pseudogene|3/3|n.2232-12559T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2367;p3_1000G_AF=0.472644;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=19935;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=202965222;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:296,24,0
chr2	202138343	rs3043926;rs34110486	G	GGTGT	1186.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.971;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.25;ReadPosRankSum=-0.266;SOR=0.725;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3043926,rs34110486;dbSNPBuildID=102,126;ANN=GGTGT|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|12/23|c.1832-78_1832-75dupGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:17,30:47:99:1224,0,808
chr2	202165228	rs7582695	T	A	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.177;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=0.475;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7582695;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|14/23|c.2047-56T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3857;p3_1000G_AF=0.770168;p3_1000G_AFR_AF=0.8669;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=20655;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.7197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203029951;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,8:24:99:173,0,389
chr2	202187163	rs6722588	C	T	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.881;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.22;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6722588;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|17/23|c.2376+65C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4297;p3_1000G_AF=0.858027;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=19171;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.8618;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203051886;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:153,0,187
chr2	202201325	rs12693962	G	T	1241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.258;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.76;MQRankSum=0;QD=21.05;ReadPosRankSum=0.326;SOR=0.702;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12693962;dbSNPBuildID=121;ANN=T|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_001005781.1|protein_coding||c.*5928C>A|||||4855|,T|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_001005782.1|protein_coding||c.*5928C>A|||||4855|,T|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_003352.4|protein_coding||c.*5928C>A|||||4855|,T|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|22/23|c.3408-1104G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1181;p3_1000G_AF=0.235823;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=22852;p3_1000G_EAS_AF=0.3016;p3_1000G_EUR_AF=0.2853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203066048;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,32:59:99:0|1:202201325_G_T:1270,0,1806
chr2	202201327	rs12693963	G	C	1241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.13;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.76;MQRankSum=0;QD=20.36;ReadPosRankSum=0.845;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12693963;dbSNPBuildID=121;ANN=C|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_001005781.1|protein_coding||c.*5926C>G|||||4853|,C|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_001005782.1|protein_coding||c.*5926C>G|||||4853|,C|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_003352.4|protein_coding||c.*5926C>G|||||4853|,C|intron_variant|MODIFIER|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|22/23|c.3408-1102G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1757;p3_1000G_AF=0.350839;p3_1000G_AFR_AF=0.4705;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=22846;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.2853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203066050;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,33:61:99:0|1:202201325_G_T:1270,0,1806
chr2	202202454	rs4673235	T	C	504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4673235;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|KIAA2012|KIAA2012|transcript|NM_001277372.2|protein_coding|23/24|c.3433T>C|p.Phe1145Leu|3808/4145|3433/3546|1145/1181||,C|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_001005781.1|protein_coding||c.*4799A>G|||||3726|,C|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_001005782.1|protein_coding||c.*4799A>G|||||3726|,C|downstream_gene_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_003352.4|protein_coding||c.*4799A>G|||||3726|;p3_1000G_AA=C|||;p3_1000G_AC=4924;p3_1000G_AF=0.983227;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=16799;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203067177;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:533,45,0
chr2	202214584	rs3769817	T	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-0.253;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769817;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_001005781.1|protein_coding|2/5|c.88-150A>G||||||,C|intron_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_001005782.1|protein_coding|1/3|c.13-150A>G||||||,C|intron_variant|MODIFIER|SUMO1|SUMO1|transcript|NM_003352.4|protein_coding|2/4|c.88-150A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4269;p3_1000G_AF=0.852436;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=15679;p3_1000G_EAS_AF=0.877;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203079307;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:34:112,0,34
chr2	202275015	rs11397579;rs386392334	A	AC	224.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=4.174;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11397579;dbSNPBuildID=130,138;ANN=AC|upstream_gene_variant|MODIFIER|SNORD70|SNORD70|transcript|NR_003058.1|pseudogene||n.-1416_-1415insC|||||1415|,AC|intron_variant|MODIFIER|NOP58|NOP58|transcript|NM_015934.4|protein_coding|1/14|c.46-97dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=4919;p3_1000G_AF=0.982228;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19281;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203139738;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:262,21,0
chr2	202275121	rs80282360	T	C	222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.51;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.424;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80282360;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|NOP58|NOP58|transcript|NM_015934.4|protein_coding|2/15|c.54T>C|p.Asn18Asn|280/2041|54/1590|18/529||,C|upstream_gene_variant|MODIFIER|SNORD70|SNORD70|transcript|NR_003058.1|pseudogene||n.-1310T>C|||||1310|;p3_1000G_AA=T|||;p3_1000G_AC=618;p3_1000G_AF=0.123403;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=17571;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.1362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203139844;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=106,4286;ESP6500_AA_AGE=72.0+/-110.0;ESP6500_AA_GTC=4,98,2094;ESP6500_CDS_SIZES=NM_015934.3:1590;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=34;ESP6500_EA_AC=1007,7561;ESP6500_EA_AGE=207.3+/-249.1;ESP6500_EA_GTC=55,897,3332;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015934.3:coding-synonymous;ESP6500_GL=NOP58;ESP6500_GRCh38_POSITION=2:202275121;ESP6500_GTC=59,995,5426;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015934.3:c.54T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015934.3:p.(N18);ESP6500_MAF=11.753,2.4135,8.588;ESP6500_TAC=1113,11847	GT:AD:DP:GQ:PL	0/1:17,10:27:99:251,0,425
chr2	202287632	rs7572505	G	A	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.673;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.541;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.795;SOR=1.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7572505;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|SNORD11B|SNORD11B|transcript|NR_003694.1|pseudogene||n.-3685G>A|||||3685|,A|intron_variant|MODIFIER|NOP58|NOP58|transcript|NM_015934.4|protein_coding|5/14|c.435-28G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1797;p3_1000G_AF=0.358826;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=17776;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.2535;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203152355;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2349,2057;ESP6500_AA_AGE=568.0+/-382.3;ESP6500_AA_GTC=628,1093,482;ESP6500_CDS_SIZES=NM_015934.3:1590;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=147;ESP6500_EA_AC=2115,6485;ESP6500_EA_AGE=716.2+/-406.1;ESP6500_EA_GTC=263,1589,2448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015934.3:intron;ESP6500_GL=NOP58;ESP6500_GRCh38_POSITION=2:202287632;ESP6500_GTC=891,2682,2930;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015934.3:c.435-28G>A;ESP6500_MAF=24.593,46.6863,34.3226;ESP6500_TAC=4464,8542	GT:AD:DP:GQ:PL	0/1:19,11:30:99:284,0,503
chr2	202290230	rs1474001	G	A	139.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.769;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=9.859;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.582;SOR=3.556;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1474001;dbSNPBuildID=88;ANN=A|upstream_gene_variant|MODIFIER|SNORD11B|SNORD11B|transcript|NR_003694.1|pseudogene||n.-1087G>A|||||1087|,A|upstream_gene_variant|MODIFIER|SNORD11|SNORD11|transcript|NR_003031.1|pseudogene||n.-2821G>A|||||2821|,A|intron_variant|MODIFIER|NOP58|NOP58|transcript|NM_015934.4|protein_coding|6/14|c.500-93G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=657;p3_1000G_AF=0.13119;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18635;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203154953;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:168,0,276
chr2	202290292	rs11310035;rs796254098	GT	G	438.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.018;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.348;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.38;SOR=1.088;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11310035;dbSNPBuildID=126,146;ANN=G|upstream_gene_variant|MODIFIER|SNORD11B|SNORD11B|transcript|NR_003694.1|pseudogene||n.-1024delT|||||1024|,G|upstream_gene_variant|MODIFIER|SNORD11|SNORD11|transcript|NR_003031.1|pseudogene||n.-2758delT|||||2758|,G|intron_variant|MODIFIER|NOP58|NOP58|transcript|NM_015934.4|protein_coding|6/14|c.500-27delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTCCTGGGTT|TTTT|TTT|cryptic_indel;p3_1000G_AC=1793;p3_1000G_AF=0.358027;p3_1000G_AFR_AF=0.6188;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=19406;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.2565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203155015;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:18,17:35:99:476,0,504
chr2	202291213	rs3731700	A	C	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.69;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.193;SOR=0.715;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731700;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|NOP58|NOP58|transcript|NM_015934.4|protein_coding|8/15|c.723A>C|p.Ser241Ser|949/2041|723/1590|241/529||,C|upstream_gene_variant|MODIFIER|SNORD11B|SNORD11B|transcript|NR_003694.1|pseudogene||n.-104A>C|||||104|,C|upstream_gene_variant|MODIFIER|SNORD11|SNORD11|transcript|NR_003031.1|pseudogene||n.-1838A>C|||||1838|;p3_1000G_AA=A|||;p3_1000G_AC=623;p3_1000G_AF=0.124401;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=17596;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203155936;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=109,4297;ESP6500_AA_AGE=82.9+/-121.4;ESP6500_AA_GTC=4,101,2098;ESP6500_CDS_SIZES=NM_015934.3:1590;ESP6500_CG=-11.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=118;ESP6500_EA_AC=1046,7554;ESP6500_EA_AGE=221.5+/-258.9;ESP6500_EA_GTC=59,928,3313;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015934.3:coding-synonymous;ESP6500_GL=NOP58;ESP6500_GRCh38_POSITION=2:202291213;ESP6500_GTC=63,1029,5411;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015934.3:c.723A>C;ESP6500_HGVS_PROTEIN_VAR=NM_015934.3:p.(S241);ESP6500_MAF=12.1628,2.4739,8.8805;ESP6500_TAC=1155,11851	GT:AD:DP:GQ:PL	0/1:14,9:23:99:232,0,323
chr2	202298068	rs138860976;rs61113445	A	AAATGTGCACATTGAGG	43.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.967;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs138860976,rs61113445;dbSNPBuildID=134,138;ANN=AAATGTGCACATTGAGG|downstream_gene_variant|MODIFIER|SNORD11|SNORD11|transcript|NR_003031.1|pseudogene||n.*4934_*4935insAATGTGCACATTGAGG|||||4935|,AAATGTGCACATTGAGG|intron_variant|MODIFIER|NOP58|NOP58|transcript|NM_015934.4|protein_coding|12/14|c.1268+167_1268+182dupTGCACATTGAGGAATG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=653;p3_1000G_AF=0.130391;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=17225;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.1402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203162791;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,2:3:81:81,0,169
chr2	202303512	rs16841867	C	G	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.852;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.55;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16841867;dbSNPBuildID=123;ANN=G|3_prime_UTR_variant|MODIFIER|NOP58|NOP58|transcript|NM_015934.4|protein_coding|15/15|c.*76C>G|||||76|;p3_1000G_AA=G|||;p3_1000G_AC=658;p3_1000G_AF=0.13139;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=17306;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.1402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203168235;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=75,1309;ESP6500_AA_GTC=7,61,624;ESP6500_CDS_SIZES=NM_015934.3:1590;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=56;ESP6500_EA_AC=371,2811;ESP6500_EA_GTC=20,331,1240;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015934.3:utr-3;ESP6500_GL=NOP58;ESP6500_GRCh38_POSITION=2:202303512;ESP6500_GTC=27,392,1864;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015934.3:c.*76C>G;ESP6500_MAF=11.6593,5.4191,9.7678;ESP6500_TAC=446,4120	GT:AD:DP:GQ:PL	0/1:6,5:11:99:142,0,184
chr2	202519989	rs3736578	C	G	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.253;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.29;ReadPosRankSum=0;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736578;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|BMPR2|BMPR2|transcript|NM_001204.6|protein_coding|6/12|c.853-98C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=634;p3_1000G_AF=0.126597;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=15333;p3_1000G_EAS_AF=0.126;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203384712;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:66:144,0,66
chr2	202556476	rs1061157;136529	G	A	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.093;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.779;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=0.279;SOR=1.222;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1061157;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|BMPR2|BMPR2|transcript|NM_001204.6|protein_coding|12/13|c.2811G>A|p.Arg937Arg|3959/12070|2811/3117|937/1038||;p3_1000G_AA=G|||;p3_1000G_AC=583;p3_1000G_AF=0.116414;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=19640;p3_1000G_EAS_AF=0.1042;p3_1000G_EUR_AF=0.1362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203421199;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=108,4298;ESP6500_AA_AGE=82.4+/-120.9;ESP6500_AA_GTC=3,102,2098;ESP6500_CDS_SIZES=NM_001204.6:3117;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=89;ESP6500_EA_AC=1085,7515;ESP6500_EA_AGE=226.4+/-262.1;ESP6500_EA_GTC=57,971,3272;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001204.6:coding-synonymous;ESP6500_GL=BMPR2;ESP6500_GRCh38_POSITION=2:202556476;ESP6500_GTC=60,1073,5370;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001204.6:c.2811G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001204.6:p.(R937);ESP6500_MAF=12.6163,2.4512,9.1727;ESP6500_TAC=1193,11813;CLINVAR_AF_ESP=0.0917;CLINVAR_AF_EXAC=0.12026;CLINVAR_AF_TGP=0.1164;CLINVAR_ALLELEID=140232;CLINVAR_CLNDISDB=MedGen:C0152171,OMIM:178600,SNOMED_CT:26174007|MedGen:CN169374;CLINVAR_CLNDN=Primary_pulmonary_hypertension|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.202556476G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:3114|Illumina_Clinical_Services_Laboratory,Illumina:54020;CLINVAR_GENEINFO=BMPR2:659;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1061157	GT:AD:DP:GQ:PL	0/1:17,14:31:99:347,0,560
chr2	202828836	rs4675296	C	G	583.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.905;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.68;SOR=0.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675296;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ICA1L|ICA1L|transcript|NM_001288622.1|protein_coding|2/12|c.162+12G>C||||||,G|intron_variant|MODIFIER|ICA1L|ICA1L|transcript|NM_001288623.1|protein_coding|2/12|c.162+12G>C||||||,G|intron_variant|MODIFIER|ICA1L|ICA1L|transcript|NM_138468.5|protein_coding|3/13|c.162+12G>C||||||,G|intron_variant|MODIFIER|ICA1L|ICA1L|transcript|NM_001288624.1|protein_coding|1/3|c.162+12G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4355;p3_1000G_AF=0.869609;p3_1000G_AFR_AF=0.6997;p3_1000G_AMR_AF=0.8833;p3_1000G_AN=5008;p3_1000G_DP=17102;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.9503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203693559;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3317,1089;ESP6500_AA_AGE=394.0+/-329.1;ESP6500_AA_GTC=1251,815,137;ESP6500_CDS_SIZES=NM_178231.2:249,NM_138468.4:1449;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=119;ESP6500_EA_AC=8168,432;ESP6500_EA_AGE=133.1+/-190.7;ESP6500_EA_GTC=3875,418,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178231.2:intron,NM_138468.4:intron;ESP6500_GL=ICA1L;ESP6500_GRCh38_POSITION=2:202828836;ESP6500_GTC=5126,1233,144;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_178231.2:c.162+12G>C,NM_138468.4:c.162+12G>C;ESP6500_MAF=5.0233,24.7163,11.6946;ESP6500_TAC=11485,1521	GT:AD:DP:GQ:PL	0/1:18,23:41:99:612,0,428
chr2	202882611	rs183039835	A	G	105.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.694;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.72;MQRankSum=-0.674;QD=7.55;ReadPosRankSum=0.733;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs183039835;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|WDR12|WDR12|transcript|NM_018256.3|protein_coding|12/12|c.1194+100T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14499;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203747334;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:134,0,202
chr2	202883821	rs34788166;rs539607004	A	AT	103.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.77;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34788166;dbSNPBuildID=126;ANN=AT|intron_variant|MODIFIER|WDR12|WDR12|transcript|NM_018256.3|protein_coding|10/12|c.989-81dupA||||||;p3_1000G_AC=4434;p3_1000G_AF=0.885383;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=16215;p3_1000G_EAS_AF=0.9147;p3_1000G_EUR_AF=0.84;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203748544;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:141,15,0
chr2	202982142	rs75249727	C	T	584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.933;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.461;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-2.461;SOR=0.363;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75249727;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|CARF|CARF|transcript|NM_001104586.2|protein_coding|15/16|c.1760C>T|p.Pro587Leu|2077/5356|1760/2178|587/725||,T|missense_variant|MODERATE|CARF|CARF|transcript|NM_001322429.1|protein_coding|14/15|c.1724C>T|p.Pro575Leu|1956/2740|1724/2142|575/713||,T|missense_variant|MODERATE|CARF|CARF|transcript|NM_001282910.1|protein_coding|14/15|c.1532C>T|p.Pro511Leu|1849/5128|1532/1950|511/649||,T|missense_variant|MODERATE|CARF|CARF|transcript|NM_001282911.1|protein_coding|15/16|c.1532C>T|p.Pro511Leu|1930/5209|1532/1950|511/649||,T|missense_variant|MODERATE|CARF|CARF|transcript|NM_001282912.1|protein_coding|13/14|c.1496C>T|p.Pro499Leu|1728/5007|1496/1914|499/637||,T|missense_variant|MODERATE|CARF|CARF|transcript|NM_024744.15|protein_coding|16/17|c.1760C>T|p.Pro587Leu|2974/6253|1760/2178|587/725||,T|missense_variant|MODERATE|CARF|CARF|transcript|NM_001322427.1|protein_coding|16/17|c.1760C>T|p.Pro587Leu|2136/6786|1760/2178|587/725||,T|missense_variant|MODERATE|CARF|CARF|transcript|NM_001322428.1|protein_coding|15/16|c.1760C>T|p.Pro587Leu|2350/3134|1760/2178|587/725||,T|intron_variant|MODIFIER|CARF|CARF|transcript|NM_001322430.1|protein_coding|13/13|c.840+457C>T||||||,T|intron_variant|MODIFIER|CARF|CARF|transcript|NR_136331.1|pseudogene|13/13|n.1816+457C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|CARF|CARF|transcript|NR_136330.1|pseudogene|14/15|n.1956C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18101;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203846865;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,3707;ESP6500_AA_GTC=0,1,1853;ESP6500_CDS_SIZES=NM_024744.14:2178,NM_001104586.1:2178;ESP6500_CG=3.7;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=67;ESP6500_EA_AC=0,8204;ESP6500_EA_GTC=0,0,4102;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024744.14:missense,NM_001104586.1:missense;ESP6500_GL=ALS2CR8;ESP6500_GRCh38_POSITION=2:202982142;ESP6500_GS=98,98;ESP6500_GTC=0,1,5955;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024744.14:c.1760C>T,NM_001104586.1:c.1760C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024744.14:p.(P587L),NM_001104586.1:p.(P587L);ESP6500_MAF=0.0,0.027,0.0084;ESP6500_PH=benign:0.004,benign:0.004;ESP6500_TAC=1,11911	GT:AD:DP:GQ:PL	0/1:27,23:50:99:613,0,741
chr2	203016269	rs2351524	T	C	143.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2351524;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|2/55|c.-116T>C|||||116|;p3_1000G_AA=C|||;p3_1000G_AC=4732;p3_1000G_AF=0.944888;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=17342;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.8698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203880992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:172,15,0
chr2	203056547	rs4673241	A	G	577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.88;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=10.819;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.423;SOR=2.517;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4673241;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|5/54|c.387+39A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4395;p3_1000G_AF=0.877596;p3_1000G_AFR_AF=0.7224;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=19209;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.9583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203921270;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9427;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1078,306;ESP6500_AA_GTC=420,238,34;ESP6500_CDS_SIZES=NM_001114132.1:8085;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=73;ESP6500_EA_AC=3032,148;ESP6500_EA_GTC=1445,142,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001114132.1:intron;ESP6500_GL=NBEAL1;ESP6500_GRCh38_POSITION=2:203056547;ESP6500_GTC=1865,380,37;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001114132.1:c.387+39A>G;ESP6500_MAF=4.6541,22.1098,9.9474;ESP6500_TAC=4110,454	GT:AD:DP:GQ:PL	0/1:23,19:42:99:606,0,582
chr2	203115880	rs369168273	T	C	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=-0.767;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369168273;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|16/54|c.2420-105T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18154;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203980603;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,2:12:45:45,0,289
chr2	203132147	rs6748898	A	G	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.74;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6748898;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|25/54|c.3637+15A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4491;p3_1000G_AF=0.896765;p3_1000G_AFR_AF=0.7617;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=15380;p3_1000G_EAS_AF=0.9296;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=203996870;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1146,238;ESP6500_AA_GTC=470,206,16;ESP6500_CDS_SIZES=NM_001114132.1:8085;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=67;ESP6500_EA_AC=3071,111;ESP6500_EA_GTC=1481,109,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001114132.1:intron;ESP6500_GL=NBEAL1;ESP6500_GRCh38_POSITION=2:203132147;ESP6500_GTC=1951,315,17;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001114132.1:c.3637+15A>G;ESP6500_MAF=3.4884,17.1965,7.6435;ESP6500_TAC=4217,349	GT:AD:DP:GQ:PL	0/1:12,10:22:99:288,0,308
chr2	203138086	rs10180815	A	C	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-2.281;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10180815;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|28/54|c.4479-76A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4417;p3_1000G_AF=0.881989;p3_1000G_AFR_AF=0.7126;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=19565;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204002809;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9448;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,8:18:99:247,0,315
chr2	203190732	rs10445794	C	G	162.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.792;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.78;MQRankSum=-1.981;QD=23.25;ReadPosRankSum=-0.712;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10445794;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|45/54|c.6834+343C>G||||||	GT:AD:DP:GQ:PL	0/1:2,5:7:64:191,0,64
chr2	203190750	rs10445795	C	T	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.057;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.26;MQRankSum=-2.26;QD=15.86;ReadPosRankSum=0.819;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10445795;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|45/54|c.6834+361C>T||||||	GT:AD:DP:GQ:PL	0/1:4,5:9:99:171,0,135
chr2	203190761	rs10445796	A	G	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.26;MQRankSum=-2.26;QD=14.31;ReadPosRankSum=1.36;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10445796;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|45/54|c.6834+372A>G||||||	GT:AD:DP:GQ:PL	0/1:4,5:9:99:157,0,115
chr2	203190805	rs10445797	A	T	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.771;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=49.52;MQRankSum=-2.1;QD=15.75;ReadPosRankSum=-0.431;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|45/54|c.6834+416A>T||||||	GT:AD:DP:GQ:PL	0/1:3,6:9:62:170,0,62
chr2	203190975	rs10446022	A	G	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.02;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=45.11;MQRankSum=-1.644;QD=10.55;ReadPosRankSum=-0.438;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199724453;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|45/54|c.6834+586A>G||||||	GT:AD:DP:GQ:PL	0/1:8,6:14:99:176,0,217
chr2	203197338	rs4675323	A	G	292.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.492;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.22;ReadPosRankSum=-1.141;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675323;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|47/55|c.6988A>G|p.Ile2330Val|7321/9058|6988/8085|2330/2694||;p3_1000G_AA=G|||;p3_1000G_AC=4311;p3_1000G_AF=0.860823;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=15212;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.9612;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204062061;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9458;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2694,966;ESP6500_AA_GTC=977,740,113;ESP6500_CDS_SIZES=NM_001114132.1:8085;ESP6500_CG=3.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=135;ESP6500_EA_AC=7853,287;ESP6500_EA_GTC=3786,281,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001114132.1:missense;ESP6500_GL=NBEAL1;ESP6500_GRCh38_POSITION=2:203197338;ESP6500_GS=29;ESP6500_GTC=4763,1021,116;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001114132.1:c.6988A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001114132.1:p.(I2330V);ESP6500_MAF=3.5258,26.3934,10.6186;ESP6500_PH=benign:0.0;ESP6500_TAC=10547,1253	GT:AD:DP:GQ:PL	0/1:4,13:17:72:321,0,72
chr2	203202545	rs2060388	A	G	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.46;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=5.119;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.29;ReadPosRankSum=-1.05;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2060388;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|NBEAL1|NBEAL1|transcript|NM_001114132.1|protein_coding|49/54|c.7325-142A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4303;p3_1000G_AF=0.859225;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=19290;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204067268;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,9:13:99:344,0,124
chr2	203226164	rs2351773	C	G	667.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=3.925;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.015;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2351773;dbSNPBuildID=100;ANN=G|intergenic_region|MODIFIER|NBEAL1-CYP20A1|NBEAL1-CYP20A1|intergenic_region|NBEAL1-CYP20A1|||n.203226164C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4299;p3_1000G_AF=0.858427;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=20569;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.9622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204090887;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9458;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,25:52:99:696,0,653
chr2	203246025	rs56317341	G	A	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56317341;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|CYP20A1|CYP20A1|transcript|NM_177538.2|protein_coding|2/12|c.122+130G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1997;p3_1000G_AF=0.398762;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=17042;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.5626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204110748;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:34:66,0,34
chr2	203246671	rs13015873	T	C	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-0.272;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13015873;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|CYP20A1|CYP20A1|transcript|NM_177538.2|protein_coding|2/12|c.123-84T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4542;p3_1000G_AF=0.906949;p3_1000G_AFR_AF=0.7973;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=17350;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204111394;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,4:8:99:0|1:203246671_T_C:150,0,364
chr2	203246675	rs10586509;rs10601301	GTTAA	G	141.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.343;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.469;SOR=0.33;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10601301,rs10586509;dbSNPBuildID=134,132;ANN=G|intron_variant|MODIFIER|CYP20A1|CYP20A1|transcript|NM_177538.2|protein_coding|2/12|c.123-77_123-74delAATT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4537;p3_1000G_AF=0.90595;p3_1000G_AFR_AF=0.7943;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=17970;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.9642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204111398;p3_1000G_GRCH37_REF=GTTAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9489;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,5:13:99:0|1:203246671_T_C:179,0,481
chr2	203246720	rs6435176	A	G	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.935;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=6.152;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=0.651;SOR=0.138;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6435176;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CYP20A1|CYP20A1|transcript|NM_177538.2|protein_coding|2/12|c.123-35A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4352;p3_1000G_AF=0.86901;p3_1000G_AFR_AF=0.6596;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=16946;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.9632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204111443;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9479;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3279,1127;ESP6500_AA_AGE=703.2+/-407.0;ESP6500_AA_GTC=1222,835,146;ESP6500_CDS_SIZES=NM_177538.2:1389;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=109;ESP6500_EA_AC=8302,298;ESP6500_EA_AGE=805.6+/-407.3;ESP6500_EA_GTC=4006,290,4;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_177538.2:intron;ESP6500_GL=CYP20A1;ESP6500_GRCh38_POSITION=2:203246720;ESP6500_GTC=5228,1125,150;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_177538.2:c.123-35A>G;ESP6500_MAF=3.4651,25.5788,10.9565;ESP6500_TAC=11581,1425	GT:AD:DP:GQ:PL	0/1:16,12:28:99:257,0,495
chr2	203246982	rs6751894	T	C	657.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.62;SOR=5.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6751894;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CYP20A1|CYP20A1|transcript|NM_177538.2|protein_coding|3/12|c.289+61T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=4996;p3_1000G_AF=0.997604;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17804;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204111705;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:686,57,0
chr2	203251937	rs3731694	A	T	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.213;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.161;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731694;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CYP20A1|CYP20A1|transcript|NM_177538.2|protein_coding|3/12|c.290-30A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2037;p3_1000G_AF=0.406749;p3_1000G_AFR_AF=0.1717;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=10609;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.5626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204116660;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1065,3337;ESP6500_AA_AGE=355.1+/-312.9;ESP6500_AA_GTC=129,807,1265;ESP6500_CDS_SIZES=NM_177538.2:1389;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=47;ESP6500_EA_AC=4815,3785;ESP6500_EA_AGE=601.4+/-394.4;ESP6500_EA_GTC=1352,2111,837;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_177538.2:intron;ESP6500_GL=CYP20A1;ESP6500_GRCh38_POSITION=2:203251937;ESP6500_GTC=1481,2918,2102;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_177538.2:c.290-30A>T;ESP6500_MAF=44.0116,24.1935,45.2238;ESP6500_TAC=5880,7122	GT:AD:DP:GQ:PL	0/1:6,7:13:99:192,0,166
chr2	203251967	rs2043449	C	T	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.073;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.05;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2043449;dbSNPBuildID=94;ANN=T|missense_variant&splice_region_variant|MODERATE|CYP20A1|CYP20A1|transcript|NM_177538.2|protein_coding|4/13|c.290C>T|p.Ser97Leu|912/10943|290/1389|97/462||;p3_1000G_AA=C|||;p3_1000G_AC=4354;p3_1000G_AF=0.869409;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=11117;p3_1000G_EAS_AF=0.9266;p3_1000G_EUR_AF=0.9632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204116690;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9479;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3250,1156;ESP6500_AA_AGE=712.4+/-408.1;ESP6500_AA_GTC=1190,870,143;ESP6500_CDS_SIZES=NM_177538.2:1389;ESP6500_CG=-5.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=77;ESP6500_EA_AC=8301,299;ESP6500_EA_AGE=805.7+/-407.3;ESP6500_EA_GTC=4005,291,4;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_177538.2:missense-near-splice;ESP6500_GL=CYP20A1;ESP6500_GRCh38_POSITION=2:203251967;ESP6500_GS=145;ESP6500_GTC=5195,1161,147;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_177538.2:c.290C>T;ESP6500_HGVS_PROTEIN_VAR=NM_177538.2:p.(S97L);ESP6500_MAF=3.4767,26.2369,11.1871;ESP6500_PH=benign:0.002;ESP6500_TAC=11551,1455	GT:AD:DP:GQ:PL	0/1:9,10:19:99:261,0,252
chr2	203252164	rs2351771	T	G	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.539;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=1.04;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2351771;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CYP20A1|CYP20A1|transcript|NM_177538.2|protein_coding|4/12|c.432+55T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4354;p3_1000G_AF=0.869409;p3_1000G_AFR_AF=0.6611;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=13889;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.9632;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204116887;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9479;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:176,0,284
chr2	203342254	rs4675333	C	T	547.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4675333;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282925.1|protein_coding|1/10|c.117+13623C>T||||||,T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282926.1|protein_coding|1/9|c.117+13623C>T||||||,T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282932.1|protein_coding|1/9|c.-249+13623C>T||||||,T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_005759.5|protein_coding|1/9|c.117+13623C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4985;p3_1000G_AF=0.995407;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16094;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204206977;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:576,63,0
chr2	203397000	rs3731652	G	C	1037.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.557;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=7.252;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-0.277;SOR=0.196;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731652;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282925.1|protein_coding|8/10|c.1033+33G>C||||||,C|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282926.1|protein_coding|7/9|c.1015+33G>C||||||,C|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282932.1|protein_coding|7/9|c.664+1220G>C||||||,C|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_005759.5|protein_coding|6/9|c.832+1220G>C||||||,C|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282927.1|protein_coding|6/8|c.697+1220G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3264;p3_1000G_AF=0.651757;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=17540;p3_1000G_EAS_AF=0.4325;p3_1000G_EUR_AF=0.827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204261723;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,41:69:99:1066,0,771
chr2	203402831	rs2248848	G	T	139.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2248848;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282925.1|protein_coding|9/10|c.1192+97G>T||||||,T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282926.1|protein_coding|8/9|c.1174+97G>T||||||,T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282932.1|protein_coding|8/9|c.823+97G>T||||||,T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_005759.5|protein_coding|7/9|c.991+97G>T||||||,T|intron_variant|MODIFIER|ABI2|ABI2|transcript|NM_001282927.1|protein_coding|7/8|c.856+97G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=468;p3_1000G_AF=0.0934505;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=18236;p3_1000G_EAS_AF=0.0724;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204267554;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:167,12,0
chr2	203439491	rs2465520	G	A	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.773;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.515;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=0.983;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2465520;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|14/14|c.3699C>T|p.Pro1233Pro|3924/9733|3699/3753|1233/1250||,A|downstream_gene_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding||c.*2587C>T|||||1978|,A|downstream_gene_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding||c.*3108C>T|||||1978|;p3_1000G_AA=G|||;p3_1000G_AC=781;p3_1000G_AF=0.15595;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=20779;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0.1024;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204304214;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1289,3117;ESP6500_AA_AGE=435.3+/-344.3;ESP6500_AA_GTC=188,913,1102;ESP6500_CDS_SIZES=NM_213589.1:3753;ESP6500_CG=-5.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=82;ESP6500_EA_AC=862,7738;ESP6500_EA_AGE=196.5+/-241.4;ESP6500_EA_GTC=57,748,3495;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213589.1:coding-synonymous;ESP6500_GL=RAPH1;ESP6500_GRCh38_POSITION=2:203439491;ESP6500_GTC=245,1661,4597;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_213589.1:c.3699C>T;ESP6500_HGVS_PROTEIN_VAR=NM_213589.1:p.(P1233);ESP6500_MAF=10.0233,29.2556,16.5385;ESP6500_TAC=2151,10855	GT:AD:DP:GQ:PL	0/1:38,18:56:99:453,0,1083
chr2	203440370	rs3814365	T	C	443.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.331;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.793;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3814365;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|14/14|c.2820A>G|p.Pro940Pro|3045/9733|2820/3753|940/1250||,C|downstream_gene_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding||c.*1708A>G|||||1099|,C|downstream_gene_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding||c.*2229A>G|||||1099|;p3_1000G_AA=T|||;p3_1000G_AC=2080;p3_1000G_AF=0.415335;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=11816;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.5577;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204305093;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6319;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=973,3433;ESP6500_AA_AGE=363.4+/-316.5;ESP6500_AA_GTC=106,761,1336;ESP6500_CDS_SIZES=NM_213589.1:3753;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=47;ESP6500_EA_AC=4916,3684;ESP6500_EA_AGE=617.5+/-396.7;ESP6500_EA_GTC=1408,2100,792;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213589.1:coding-synonymous;ESP6500_GL=RAPH1;ESP6500_GRCh38_POSITION=2:203440370;ESP6500_GTC=1514,2861,2128;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_213589.1:c.2820A>G;ESP6500_HGVS_PROTEIN_VAR=NM_213589.1:p.(P940);ESP6500_MAF=42.8372,22.0835,45.2791;ESP6500_TAC=5889,7117	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,19:32:99:0|1:203440370_T_C:472,0,295
chr2	203442280	rs2247097	G	A	92.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.754;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.712;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2247097;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding|16/16|c.*319C>T|||||319|,A|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|13/13|c.1777-867C>T||||||,A|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding|15/15|c.1933-200C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=643;p3_1000G_AF=0.128395;p3_1000G_AFR_AF=0.3374;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=18482;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204307003;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:121,0,175
chr2	203442443	rs2247094	G	T	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-1.016;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2247094;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding|16/16|c.*156C>A|||||156|,T|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|13/13|c.1777-1030C>A||||||,T|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding|15/15|c.1933-363C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=632;p3_1000G_AF=0.126198;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=21039;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204307166;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:118,0,232
chr2	203457575	rs2469953	T	C	464.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2469953;dbSNPBuildID=100;ANN=C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GMV:A_371-A_489:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GMV:A_371-A_491:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GMV:A_371-A_492:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GMV:B_371-B_491:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GN1:A_371-A_489:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GN1:B_371-B_489:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GN1:B_371-B_491:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GN1:C_371-C_489:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GN1:C_371-C_491:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|structural_interaction_variant|HIGH|RAPH1|RAPH1|interaction|4GN1:D_371-D_491:NM_213589.2|protein_coding|8/14|c.1113A>G||||||,C|synonymous_variant|LOW|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|8/14|c.1113A>G|p.Lys371Lys|1338/9733|1113/3753|371/1250||,C|synonymous_variant|LOW|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding|10/16|c.1269A>G|p.Lys423Lys|1494/2769|1269/1935|423/644||,C|synonymous_variant|LOW|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding|10/16|c.1269A>G|p.Lys423Lys|1495/3363|1269/2007|423/668||;p3_1000G_AA=C|||;p3_1000G_AC=2989;p3_1000G_AF=0.596845;p3_1000G_AFR_AF=0.7262;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=18053;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.5905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204322298;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3056,1350;ESP6500_AA_AGE=448.8+/-348.8;ESP6500_AA_GTC=1048,960,195;ESP6500_CDS_SIZES=NM_213589.1:3753,NM_203365.2:1935;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=167;ESP6500_EA_AC=5170,3430;ESP6500_EA_AGE=503.8+/-376.0;ESP6500_EA_GTC=1558,2054,688;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213589.1:coding-synonymous,NM_203365.2:coding-synonymous;ESP6500_GL=RAPH1;ESP6500_GRCh38_POSITION=2:203457575;ESP6500_GTC=2606,3014,883;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_213589.1:c.1113A>G,NM_203365.2:c.1269A>G;ESP6500_HGVS_PROTEIN_VAR=NM_213589.1:p.(K371),NM_203365.2:p.(K423);ESP6500_MAF=39.8837,30.64,36.7523;ESP6500_TAC=8226,4780	GT:AD:DP:GQ:PL	1/1:0,16:16:48:493,48,0
chr2	203457664	rs2256607	C	T	155.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.699;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.47;ReadPosRankSum=0.703;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2256607;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|7/13|c.1093-69G>A||||||,T|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding|9/15|c.1249-69G>A||||||,T|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding|9/15|c.1249-69G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=633;p3_1000G_AF=0.126398;p3_1000G_AFR_AF=0.329;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=19316;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204322387;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0481;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=340,1044;ESP6500_AA_GTC=40,260,392;ESP6500_CDS_SIZES=NM_213589.1:3753,NM_203365.2:1935;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=95;ESP6500_EA_AC=107,3075;ESP6500_EA_GTC=1,105,1485;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213589.1:intron,NM_203365.2:intron;ESP6500_GL=RAPH1;ESP6500_GRCh38_POSITION=2:203457664;ESP6500_GTC=41,365,1877;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_213589.1:c.1093-69G>A,NM_203365.2:c.1249-69G>A;ESP6500_MAF=3.3627,24.5665,9.7898;ESP6500_TAC=447,4119	GT:AD:DP:GQ:PL	0/1:3,5:8:99:184,0,103
chr2	203460050	rs2256340	G	A	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.421;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.662;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2256340;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|6/13|c.971-22C>T||||||,A|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding|8/15|c.1127-22C>T||||||,A|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding|8/15|c.1127-22C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=646;p3_1000G_AF=0.128994;p3_1000G_AFR_AF=0.3366;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=17917;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.0358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204324773;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1146,3254;ESP6500_AA_AGE=690.5+/-405.3;ESP6500_AA_GTC=141,864,1195;ESP6500_CDS_SIZES=NM_213589.1:3753,NM_203365.2:1935;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=285,8305;ESP6500_EA_AGE=799.2+/-407.4;ESP6500_EA_GTC=4,277,4014;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213589.1:intron,NM_203365.2:intron;ESP6500_GL=RAPH1;ESP6500_GRCh38_POSITION=2:203460050;ESP6500_GTC=145,1141,5209;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_213589.1:c.971-22C>T,NM_203365.2:c.1127-22C>T;ESP6500_MAF=3.3178,26.0455,11.0162;ESP6500_TAC=1431,11559	GT:AD:DP:GQ:PL	0/1:10,11:21:99:332,0,315
chr2	203490100	rs2251317	C	T	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.982;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=2.038;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.702;SOR=0.211;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2251317;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|3/13|c.227-11G>A||||||,T|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding|3/15|c.227-11G>A||||||,T|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding|3/15|c.227-11G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=449;p3_1000G_AF=0.0896565;p3_1000G_AFR_AF=0.1936;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=19077;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.0348;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204354823;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=584,3700;ESP6500_AA_GTC=29,526,1587;ESP6500_CDS_SIZES=NM_213589.1:3753,NM_203365.2:1935;ESP6500_CG=0.6;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=275,8251;ESP6500_EA_GTC=4,267,3992;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_213589.1:intron,NM_203365.2:intron;ESP6500_GL=RAPH1;ESP6500_GRCh38_POSITION=2:203490100;ESP6500_GTC=33,793,5579;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_213589.1:c.227-11G>A,NM_203365.2:c.227-11G>A;ESP6500_MAF=3.2254,13.6321,6.7057;ESP6500_TAC=859,11951	GT:AD:DP:GQ:PL	0/1:18,13:31:99:338,0,653
chr2	203491099	rs2469962	G	A	150.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2469962;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_213589.2|protein_coding|3/13|c.226+115C>T||||||,A|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_203365.3|protein_coding|3/15|c.226+115C>T||||||,A|intron_variant|MODIFIER|RAPH1|RAPH1|transcript|NM_001329728.1|protein_coding|3/15|c.226+115C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3029;p3_1000G_AF=0.604832;p3_1000G_AFR_AF=0.7201;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=16798;p3_1000G_EAS_AF=0.3988;p3_1000G_EUR_AF=0.6203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204355822;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:179,15,0
chr2	203867991	rs231775;16921	A	G	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.24;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.41;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs231775;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|CTLA4|CTLA4|transcript|NM_005214.4|protein_coding|1/4|c.49A>G|p.Thr17Ala|204/1975|49/672|17/223||,G|missense_variant|MODERATE|CTLA4|CTLA4|transcript|NM_001037631.2|protein_coding|1/3|c.49A>G|p.Thr17Ala|204/1865|49/525|17/174||;p3_1000G_AA=A|||;p3_1000G_AC=2140;p3_1000G_AF=0.427316;p3_1000G_AFR_AF=0.388;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=18012;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.3588;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204732714;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3098;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1629,2777;ESP6500_AA_AGE=501.5+/-365.0;ESP6500_AA_GTC=288,1053,862;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...1493&amp%3Brs...231775|http://omim.org/entry/123890#0001;ESP6500_CDS_SIZES=NM_005214.4:672,NM_001037631.2:525;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=140;ESP6500_EA_AC=3176,5424;ESP6500_EA_AGE=481.5+/-370.7;ESP6500_EA_GTC=593,1990,1717;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005214.4:missense,NM_001037631.2:missense;ESP6500_GL=CTLA4;ESP6500_GRCh38_POSITION=2:203867991;ESP6500_GS=58,58;ESP6500_GTC=881,3043,2579;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005214.4:c.49A>G,NM_001037631.2:c.49A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005214.4:p.(T17A),NM_001037631.2:p.(T17A);ESP6500_MAF=36.9302,36.9723,36.9445;ESP6500_PH=benign:0.015,benign:0.015;ESP6500_TAC=4805,8201;CLINVAR_AF_ESP=0.3695;CLINVAR_AF_EXAC=0.41116;CLINVAR_AF_TGP=0.4273;CLINVAR_ALLELEID=31960;CLINVAR_CLNDISDB=.|.|.|.|MedGen:C1857845,OMIM:609755|MedGen:CN169374;CLINVAR_CLNDN=Diabetes_mellitus,_insulin-dependent,_susceptibility_to|Hashimoto_thyroiditis,_susceptibility_to|Systemic_lupus_erythematosus,_susceptibility_to|Thyroid-associated_orbitopathy,_susceptibility_to|Celiac_disease_3|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.203867991A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:123890.0001|UniProtKB_(protein):P16410#VAR_013577;CLINVAR_GENEINFO=CTLA4:1493;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=231775	GT:AD:DP:GQ:PL	0/1:14,8:22:99:243,0,424
chr2	203868127	rs231776	A	G	681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.02;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs231776;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|CTLA4|CTLA4|transcript|NM_005214.4|protein_coding|1/3|c.109+76A>G||||||,G|intron_variant|MODIFIER|CTLA4|CTLA4|transcript|NM_001037631.2|protein_coding|1/2|c.109+76A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4961;p3_1000G_AF=0.990615;p3_1000G_AFR_AF=0.9652;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19815;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204732850;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:710,57,0
chr2	203959455	rs146016344;rs879167520	AGT	A	271.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.141;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.641;SOR=1.685;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs112626862,rs146016344;dbSNPBuildID=134,147;ANN=A|intron_variant|MODIFIER|ICOS|ICOS|transcript|NM_012092.3|protein_coding|4/4|c.587-109_587-108delTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:9,10:19:99:309,0,251
chr2	203959560	rs10172036	T	G	639.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.463;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10172036;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|ICOS|ICOS|transcript|NM_012092.3|protein_coding|4/4|c.587-26T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2581;p3_1000G_AF=0.515375;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=20442;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.6203;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=204824283;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2318,2088;ESP6500_AA_AGE=572.2+/-383.3;ESP6500_AA_GTC=606,1106,491;ESP6500_CDS_SIZES=NM_012092.3:600;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=131;ESP6500_EA_AC=5394,3206;ESP6500_EA_AGE=484.2+/-371.3;ESP6500_EA_GTC=1699,1996,605;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012092.3:intron;ESP6500_GL=ICOS;ESP6500_GRCh38_POSITION=2:203959560;ESP6500_GTC=2305,3102,1096;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_012092.3:c.587-26T>G;ESP6500_MAF=37.2791,47.3899,40.7043;ESP6500_TAC=7712,5294	GT:AD:DP:GQ:PL	0/1:20,25:45:99:668,0,458
chr2	204965268	rs236843	C	T	391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=1.08;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs236843;dbSNPBuildID=79;ANN=T|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|3/23|c.339C>T|p.Ala113Ala|546/8174|339/3618|113/1205||,T|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|3/22|c.339C>T|p.Ala113Ala|546/7967|339/3411|113/1136||,T|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|3/22|c.339C>T|p.Ala113Ala|546/7988|339/3432|113/1143||,T|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|3/22|c.339C>T|p.Ala113Ala|546/7871|339/3315|113/1104||;p3_1000G_AA=T|||;p3_1000G_AC=4025;p3_1000G_AF=0.803714;p3_1000G_AFR_AF=0.9629;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=15327;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.6153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205829991;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3248,446;ESP6500_AA_GTC=1426,396,25;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=4.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=78;ESP6500_EA_AC=4646,3548;ESP6500_EA_GTC=1335,1976,786;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205863.3:coding-synonymous,NM_152526.5:coding-synonymous,NM_057177.6:coding-synonymous;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:204965268;ESP6500_GTC=2761,2372,811;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.339C>T,NM_152526.5:c.339C>T,NM_057177.6:c.339C>T;ESP6500_HGVS_PROTEIN_VAR=NM_205863.3:p.(A113),NM_152526.5:p.(A113),NM_057177.6:p.(A113);ESP6500_MAF=43.3,12.0736,33.5969;ESP6500_TAC=7894,3994	GT:AD:DP:GQ:PL	0/1:9,14:23:99:420,0,188
chr2	205047487	rs7563474	C	A	511.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.085;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=4.79;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.542;SOR=1.552;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7563474;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|3/22|c.395-94C>A||||||,A|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|3/21|c.395-94C>A||||||,A|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|3/21|c.395-94C>A||||||,A|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|3/21|c.395-94C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3111;p3_1000G_AF=0.621206;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=20117;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.7207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205912210;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,22:43:99:540,0,560
chr2	205047680	rs1510765	T	C	1411.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.582;ClippingRankSum=0;DP=124;ExcessHet=3.0103;FS=0.677;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.64;SOR=0.606;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1510765;dbSNPBuildID=88;ANN=C|missense_variant|MODERATE|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|4/23|c.494T>C|p.Leu165Pro|701/8174|494/3618|165/1205||,C|missense_variant|MODERATE|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|4/22|c.494T>C|p.Leu165Pro|701/7967|494/3411|165/1136||,C|missense_variant|MODERATE|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|4/22|c.494T>C|p.Leu165Pro|701/7988|494/3432|165/1143||,C|missense_variant|MODERATE|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|4/22|c.494T>C|p.Leu165Pro|701/7871|494/3315|165/1104||;p3_1000G_AA=C|||;p3_1000G_AC=2728;p3_1000G_AF=0.544728;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=16426;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.6362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205912403;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6534;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2033,1679;ESP6500_AA_GTC=592,849,415;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=38;ESP6500_EA_AC=5030,2810;ESP6500_EA_GTC=1713,1604,603;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205863.3:missense,NM_152526.5:missense,NM_057177.6:missense;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205047680;ESP6500_GS=98,98,98;ESP6500_GTC=2305,2453,1018;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.494T>C,NM_152526.5:c.494T>C,NM_057177.6:c.494T>C;ESP6500_HGVS_PROTEIN_VAR=NM_205863.3:p.(L165P),NM_152526.5:p.(L165P),NM_057177.6:p.(L165P);ESP6500_MAF=35.8418,45.2317,38.8591;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=7063,4489	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1440,0,1476
chr2	205104496	rs2289025	G	A	1087.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.209;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289025;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|5/23|c.575G>A|p.Arg192Lys|782/8174|575/3618|192/1205||,A|missense_variant|MODERATE|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|5/22|c.575G>A|p.Arg192Lys|782/7967|575/3411|192/1136||,A|missense_variant|MODERATE|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|5/22|c.575G>A|p.Arg192Lys|782/7988|575/3432|192/1143||,A|missense_variant|MODERATE|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|5/22|c.575G>A|p.Arg192Lys|782/7871|575/3315|192/1104||;p3_1000G_AA=A|||;p3_1000G_AC=3323;p3_1000G_AF=0.663538;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=18630;p3_1000G_EAS_AF=0.8085;p3_1000G_EUR_AF=0.5895;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205969220;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7505;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1988,1676;ESP6500_AA_GTC=507,974,351;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=118;ESP6500_EA_AC=5112,3082;ESP6500_EA_GTC=1613,1886,598;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205863.3:missense,NM_152526.5:missense,NM_057177.6:missense;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205104496;ESP6500_GS=26,26,26;ESP6500_GTC=2120,2860,949;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.575G>A,NM_152526.5:c.575G>A,NM_057177.6:c.575G>A;ESP6500_HGVS_PROTEIN_VAR=NM_205863.3:p.(R192K),NM_152526.5:p.(R192K),NM_057177.6:p.(R192K);ESP6500_MAF=37.6129,45.7424,40.1248;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=7100,4758	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1116,108,0
chr2	205113389	rs368750104;rs200294145	CA	C	485.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.75;SOR=5.136;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs368750104;dbSNPBuildID=138;ANN=C|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|5/22|c.594-101delA||||||,C|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|5/21|c.594-101delA||||||,C|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|5/21|c.594-101delA||||||,C|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|5/21|c.594-101delA||||||;p3_1000G_AC=2020;p3_1000G_AF=0.403355;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=15689;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.4155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205978113;p3_1000G_GRCH37_REF=CAG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4029;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:36:523,36,0
chr2	205113394	rs530446813;rs567030444;rs5837952	GTGT	G	449.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.31;SOR=4.977;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|5/22|c.594-96_594-94delTGT||||||,G|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|5/21|c.594-96_594-94delTGT||||||,G|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|5/21|c.594-96_594-94delTGT||||||,G|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|5/21|c.594-96_594-94delTGT||||||;p3_1000G_AC=1292;p3_1000G_AF=0.257987;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.1614;p3_1000G_AN=5008;p3_1000G_DP=19546;p3_1000G_EAS_AF=0.3869;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205978118;p3_1000G_GRCH37_REF=GTGTGT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:0,6:6:99:487,167,153
chr2	205113394	rs5837952;rs530446813;rs567030444	GTGT	GGT	449.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.31;SOR=4.977;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5837952;dbSNPBuildID=138;ANN=GGT|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|5/22|c.594-96delT||||||,GGT|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|5/21|c.594-96delT||||||,GGT|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|5/21|c.594-96delT||||||,GGT|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|5/21|c.594-96delT||||||;p3_1000G_AC=1872;p3_1000G_AF=0.373802;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=19546;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.3817;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205978118;p3_1000G_GRCH37_REF=GTGTGT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:0,5:5:99:487,201,167
chr2	205113623	rs34911234;rs5837953	T	TGATTTGA	231.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.392;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.393;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5837953;dbSNPBuildID=135,138;ANN=TGATTTGA|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|6/22|c.680+48_680+54dupATTTGAG||||||INFO_REALIGN_3_PRIME,TGATTTGA|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|6/21|c.680+48_680+54dupATTTGAG||||||INFO_REALIGN_3_PRIME,TGATTTGA|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|6/21|c.680+48_680+54dupATTTGAG||||||INFO_REALIGN_3_PRIME,TGATTTGA|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|6/21|c.680+48_680+54dupATTTGAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1579;p3_1000G_AF=0.315296;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=17175;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205978347;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=INDEL;ESP6500_AA_AC=543,2959;ESP6500_AA_GTC=43,457,1251;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=52;ESP6500_EA_AC=2357,5433;ESP6500_EA_GTC=390,1577,1928;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205863.3:intron,NM_152526.5:intron,NM_057177.6:intron;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205113623;ESP6500_GTC=433,2034,3179;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.680+46_680+47insGATTTGA,NM_152526.5:c.680+46_680+47insGATTTGA,NM_057177.6:c.680+46_680+47insGATTTGA;ESP6500_MAF=30.2567,15.5054,25.6819;ESP6500_TAC=2900,8392	GT:AD:DP:GQ:PL	0/1:8,7:15:99:269,0,660
chr2	205121597	rs2289023	A	G	724.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.442;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.6;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289023;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|8/23|c.813A>G|p.Gln271Gln|1020/8174|813/3618|271/1205||,G|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|8/22|c.813A>G|p.Gln271Gln|1020/7967|813/3411|271/1136||,G|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|8/22|c.813A>G|p.Gln271Gln|1020/7988|813/3432|271/1143||,G|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|8/22|c.813A>G|p.Gln271Gln|1020/7871|813/3315|271/1104||;p3_1000G_AA=A|||;p3_1000G_AC=1354;p3_1000G_AF=0.270367;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=20015;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205986321;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=606,3376;ESP6500_AA_GTC=39,528,1424;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=113;ESP6500_EA_AC=1880,6438;ESP6500_EA_GTC=222,1436,2501;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205863.3:coding-synonymous,NM_152526.5:coding-synonymous,NM_057177.6:coding-synonymous;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205121597;ESP6500_GTC=261,1964,3925;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.813A>G,NM_152526.5:c.813A>G,NM_057177.6:c.813A>G;ESP6500_HGVS_PROTEIN_VAR=NM_205863.3:p.(Q271),NM_152526.5:p.(Q271),NM_057177.6:p.(Q271);ESP6500_MAF=22.6016,15.2185,20.2114;ESP6500_TAC=2486,9814	GT:AD:DP:GQ:PL	0/1:19,28:47:99:753,0,471
chr2	205122043	rs1434161	C	T	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.342;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.12;ReadPosRankSum=-0.233;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1434161;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|8/22|c.1165+94C>T||||||,T|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|8/21|c.1165+94C>T||||||,T|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|8/21|c.1165+94C>T||||||,T|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|8/21|c.1165+94C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1935;p3_1000G_AF=0.386382;p3_1000G_AFR_AF=0.2874;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=18509;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.4016;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205986767;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:99:120,0,351
chr2	205125629	rs2276676	C	T	734.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.39;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.151;SOR=0.747;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276676;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|10/23|c.1326C>T|p.Thr442Thr|1533/8174|1326/3618|442/1205||,T|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|10/22|c.1326C>T|p.Thr442Thr|1533/7967|1326/3411|442/1136||,T|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|10/22|c.1326C>T|p.Thr442Thr|1533/7988|1326/3432|442/1143||,T|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|10/22|c.1326C>T|p.Thr442Thr|1533/7871|1326/3315|442/1104||;p3_1000G_AA=C|||;p3_1000G_AC=1538;p3_1000G_AF=0.307109;p3_1000G_AFR_AF=0.1097;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=19117;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.3032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=205990353;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=541,3443;ESP6500_AA_GTC=32,477,1483;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=-3.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=104;ESP6500_EA_AC=2656,5698;ESP6500_EA_GTC=437,1782,1958;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205863.3:coding-synonymous,NM_152526.5:coding-synonymous,NM_057177.6:coding-synonymous;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205125629;ESP6500_GTC=469,2259,3441;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.1326C>T,NM_152526.5:c.1326C>T,NM_057177.6:c.1326C>T;ESP6500_HGVS_PROTEIN_VAR=NM_205863.3:p.(T442),NM_152526.5:p.(T442),NM_057177.6:p.(T442);ESP6500_MAF=31.7932,13.5793,25.9118;ESP6500_TAC=3197,9141	GT:AD:DP:GQ:PL	0/1:36,32:68:99:763,0,882
chr2	205172194	rs736320	C	T	1389.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.88;SOR=2.461;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs736320;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|11/22|c.1621-17C>T||||||,T|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|11/21|c.1621-17C>T||||||,T|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|10/21|c.1435-17C>T||||||,T|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|11/21|c.1621-17C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3559;p3_1000G_AF=0.710663;p3_1000G_AFR_AF=0.8116;p3_1000G_AMR_AF=0.6974;p3_1000G_AN=5008;p3_1000G_DP=20367;p3_1000G_EAS_AF=0.6111;p3_1000G_EUR_AF=0.7674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206036918;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3029,765;ESP6500_AA_GTC=1213,603,81;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=75;ESP6500_EA_AC=6318,1902;ESP6500_EA_GTC=2437,1444,229;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205863.3:intron,NM_152526.5:intron,NM_057177.6:intron;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205172194;ESP6500_GTC=3650,2047,310;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.1621-17C>T,NM_152526.5:c.1435-17C>T,NM_057177.6:c.1621-17C>T;ESP6500_MAF=23.1387,20.1634,22.1991;ESP6500_TAC=9347,2667	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1418,135,0
chr2	205499763	rs11687914	T	C	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.44;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=0.405;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11687914;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|20/22|c.3045-133T>C||||||,C|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|19/21|c.2838-133T>C||||||,C|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|19/21|c.2859-133T>C||||||,C|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|19/21|c.2742-133T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2173;p3_1000G_AF=0.433906;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=21359;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206364487;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:213,0,221
chr2	205500013	rs10197347	T	C	518.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.164;SOR=0.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10197347;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|21/23|c.3162T>C|p.Ser1054Ser|3369/8174|3162/3618|1054/1205||,C|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|20/22|c.2955T>C|p.Ser985Ser|3162/7967|2955/3411|985/1136||,C|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|20/22|c.2976T>C|p.Ser992Ser|3183/7988|2976/3432|992/1143||,C|synonymous_variant|LOW|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|20/22|c.2859T>C|p.Ser953Ser|3066/7871|2859/3315|953/1104||;p3_1000G_AA=T|||;p3_1000G_AC=2246;p3_1000G_AF=0.448482;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=21928;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206364737;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1436,2416;ESP6500_AA_GTC=266,904,756;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=203;ESP6500_EA_AC=3152,5096;ESP6500_EA_GTC=639,1874,1611;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205863.3:coding-synonymous,NM_152526.5:coding-synonymous,NM_057177.6:coding-synonymous;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205500013;ESP6500_GTC=905,2778,2367;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.2859T>C,NM_152526.5:c.2976T>C,NM_057177.6:c.2955T>C;ESP6500_HGVS_PROTEIN_VAR=NM_205863.3:p.(S953),NM_152526.5:p.(S992),NM_057177.6:p.(S985);ESP6500_MAF=38.2153,37.2793,37.9174;ESP6500_TAC=4588,7512	GT:AD:DP:GQ:PL	0/1:15,20:35:99:547,0,392
chr2	205500067	rs11683289	C	G	218.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.447;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0;SOR=1.828;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11683289;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|21/22|c.3180+36C>G||||||,G|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|20/21|c.2973+36C>G||||||,G|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|20/21|c.2994+36C>G||||||,G|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|20/21|c.2877+36C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1944;p3_1000G_AF=0.388179;p3_1000G_AFR_AF=0.2511;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=22540;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.5666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206364791;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=973,2791;ESP6500_AA_GTC=140,693,1049;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=122;ESP6500_EA_AC=4825,3397;ESP6500_EA_GTC=1454,1917,740;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205863.3:intron,NM_152526.5:intron,NM_057177.6:intron;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205500067;ESP6500_GTC=1594,2610,1789;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.2877+36C>G,NM_152526.5:c.2994+36C>G,NM_057177.6:c.2973+36C>G;ESP6500_MAF=41.316,25.8502,48.3731;ESP6500_TAC=5798,6188	GT:AD:DP:GQ:PL	0/1:7,7:14:99:247,0,201
chr2	205553308	rs6730102	G	A	1447.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6730102;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_001302769.1|protein_coding|21/22|c.3181-16G>A||||||,A|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_057177.6|protein_coding|20/21|c.2974-16G>A||||||,A|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_152526.5|protein_coding|20/21|c.2995-16G>A||||||,A|intron_variant|MODIFIER|PARD3B|PARD3B|transcript|NM_205863.3|protein_coding|20/21|c.2878-16G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4720;p3_1000G_AF=0.942492;p3_1000G_AFR_AF=0.7897;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=19038;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206418032;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3167,723;ESP6500_AA_GTC=1276,615,54;ESP6500_CDS_SIZES=NM_205863.3:3315,NM_152526.5:3432,NM_057177.6:3411;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=82;ESP6500_EA_AC=8260,6;ESP6500_EA_GTC=4127,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205863.3:intron,NM_152526.5:intron,NM_057177.6:intron;ESP6500_GL=PARD3B;ESP6500_GRCh38_POSITION=2:205553308;ESP6500_GTC=5403,621,54;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_205863.3:c.2878-16G>A,NM_152526.5:c.2995-16G>A,NM_057177.6:c.2974-16G>A;ESP6500_MAF=0.0726,18.5861,5.997;ESP6500_TAC=11427,729	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1476,144,0
chr2	205697526	rs849558	C	T	1256.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs849558;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201266.1|protein_coding|1/16|c.74-18C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201264.1|protein_coding|1/8|c.74-18C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_018534.3|protein_coding|1/15|c.74-18C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201267.1|protein_coding|1/15|c.74-18C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_003872.2|protein_coding|1/16|c.74-18C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201279.1|protein_coding|1/15|c.74-18C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4464;p3_1000G_AF=0.891374;p3_1000G_AFR_AF=0.7685;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=16171;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.9801;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206562250;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9417;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3478,928;ESP6500_AA_AGE=355.4+/-313.0;ESP6500_AA_GTC=1369,740,94;ESP6500_CDS_SIZES=NM_201279.1:2730,NM_201267.1:2706,NM_201266.1:2796,NM_201264.1:1668,NM_018534.3:2721,NM_003872.2:2781;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=252;ESP6500_EA_AC=8485,115;ESP6500_EA_AGE=61.0+/-122.8;ESP6500_EA_GTC=4186,113,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201279.1:intron,NM_201267.1:intron,NM_201266.1:intron,NM_201264.1:intron,NM_018534.3:intron,NM_003872.2:intron;ESP6500_GL=NRP2;ESP6500_GRCh38_POSITION=2:205697526;ESP6500_GTC=5555,853,95;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_201279.1:c.74-18C>T,NM_201267.1:c.74-18C>T,NM_201266.1:c.74-18C>T,NM_201264.1:c.74-18C>T,NM_018534.3:c.74-18C>T,NM_003872.2:c.74-18C>T;ESP6500_MAF=1.3372,21.0622,8.0194;ESP6500_TAC=11963,1043	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1285,120,0
chr2	205726155	rs73064192	C	T	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.242;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=7.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.441;SOR=2.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73064192;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201266.1|protein_coding|6/16|c.990+73C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201264.1|protein_coding|6/8|c.990+73C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_018534.3|protein_coding|6/15|c.990+73C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201267.1|protein_coding|6/15|c.990+73C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_003872.2|protein_coding|6/16|c.990+73C>T||||||,T|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201279.1|protein_coding|6/15|c.990+73C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=604;p3_1000G_AF=0.120607;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=23148;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.0577;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206590879;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,12:26:99:337,0,379
chr2	205727810	rs2241157	T	C	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.985;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.55;SOR=0.12;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241157;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201266.1|protein_coding|6/16|c.991-81T>C||||||,C|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201264.1|protein_coding|6/8|c.991-81T>C||||||,C|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_018534.3|protein_coding|6/15|c.991-81T>C||||||,C|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201267.1|protein_coding|6/15|c.991-81T>C||||||,C|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_003872.2|protein_coding|6/16|c.991-81T>C||||||,C|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201279.1|protein_coding|6/15|c.991-81T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=779;p3_1000G_AF=0.155551;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=20330;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.0865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206592534;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1483;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:139,0,185
chr2	205727971	rs849526	T	C	394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.807;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.475;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs849526;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201266.1|protein_coding|7/17|c.1071T>C|p.Tyr357Tyr|1862/6662|1071/2796|357/931||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201264.1|protein_coding|7/9|c.1071T>C|p.Tyr357Tyr|1862/2578|1071/1668|357/555||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_018534.3|protein_coding|7/16|c.1071T>C|p.Tyr357Tyr|1862/4142|1071/2721|357/906||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201267.1|protein_coding|7/16|c.1071T>C|p.Tyr357Tyr|1862/4127|1071/2706|357/901||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_003872.2|protein_coding|7/17|c.1071T>C|p.Tyr357Tyr|1862/6647|1071/2781|357/926||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201279.1|protein_coding|7/16|c.1071T>C|p.Tyr357Tyr|1862/6596|1071/2730|357/909||;p3_1000G_AA=T|||;p3_1000G_AC=2592;p3_1000G_AF=0.517572;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=20677;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.5636;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206592695;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=694,3712;ESP6500_AA_AGE=291.8+/-281.7;ESP6500_AA_GTC=66,562,1575;ESP6500_CDS_SIZES=NM_201279.1:2730,NM_201267.1:2706,NM_201266.1:2796,NM_201264.1:1668,NM_018534.3:2721,NM_003872.2:2781;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=97;ESP6500_EA_AC=4654,3946;ESP6500_EA_AGE=602.6+/-394.5;ESP6500_EA_GTC=1276,2102,922;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201279.1:coding-synonymous,NM_201267.1:coding-synonymous,NM_201266.1:coding-synonymous,NM_201264.1:coding-synonymous,NM_018534.3:coding-synonymous,NM_003872.2:coding-synonymous;ESP6500_GL=NRP2;ESP6500_GRCh38_POSITION=2:205727971;ESP6500_GTC=1342,2664,2497;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201279.1:c.1071T>C,NM_201267.1:c.1071T>C,NM_201266.1:c.1071T>C,NM_201264.1:c.1071T>C,NM_018534.3:c.1071T>C,NM_003872.2:c.1071T>C;ESP6500_HGVS_PROTEIN_VAR=NM_201279.1:p.(Y357),NM_201267.1:p.(Y357),NM_201266.1:p.(Y357),NM_201264.1:p.(Y357),NM_018534.3:p.(Y357),NM_003872.2:p.(Y357);ESP6500_MAF=45.8837,15.7512,41.1195;ESP6500_TAC=5348,7658	GT:AD:DP:GQ:PL	0/1:23,18:41:99:423,0,527
chr2	205740456	rs849575	T	G	1019.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs849575;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201266.1|protein_coding|7/16|c.1147-63T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201264.1|protein_coding|7/8|c.1147-63T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_018534.3|protein_coding|7/15|c.1147-63T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201267.1|protein_coding|7/15|c.1147-63T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_003872.2|protein_coding|7/16|c.1147-63T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201279.1|protein_coding|7/15|c.1147-63T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1249;p3_1000G_AF=0.249401;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=21285;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.1431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206605180;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,33:33:99:1|1:205740456_T_G:1048,99,0
chr2	205743315	rs849568	T	C	1601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.82;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs849568;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201266.1|protein_coding|9/17|c.1404T>C|p.Val468Val|2195/6662|1404/2796|468/931||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201264.1|protein_coding|9/9|c.1404T>C|p.Val468Val|2195/2578|1404/1668|468/555||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_018534.3|protein_coding|9/16|c.1404T>C|p.Val468Val|2195/4142|1404/2721|468/906||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201267.1|protein_coding|9/16|c.1404T>C|p.Val468Val|2195/4127|1404/2706|468/901||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_003872.2|protein_coding|9/17|c.1404T>C|p.Val468Val|2195/6647|1404/2781|468/926||,C|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201279.1|protein_coding|9/16|c.1404T>C|p.Val468Val|2195/6596|1404/2730|468/909||;p3_1000G_AA=C|||;p3_1000G_AC=4831;p3_1000G_AF=0.964657;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=16684;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206608039;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4019,387;ESP6500_AA_AGE=186.0+/-213.0;ESP6500_AA_GTC=1837,345,21;ESP6500_CDS_SIZES=NM_201279.1:2730,NM_201267.1:2706,NM_201266.1:2796,NM_201264.1:1668,NM_018534.3:2721,NM_003872.2:2781;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=67;ESP6500_EA_AC=8405,195;ESP6500_EA_AGE=79.8+/-142.4;ESP6500_EA_GTC=4112,181,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201279.1:coding-synonymous,NM_201267.1:coding-synonymous,NM_201266.1:coding-synonymous,NM_201264.1:coding-synonymous,NM_018534.3:coding-synonymous,NM_003872.2:coding-synonymous;ESP6500_GL=NRP2;ESP6500_GRCh38_POSITION=2:205743315;ESP6500_GTC=5949,526,28;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201279.1:c.1404T>C,NM_201267.1:c.1404T>C,NM_201266.1:c.1404T>C,NM_201264.1:c.1404T>C,NM_018534.3:c.1404T>C,NM_003872.2:c.1404T>C;ESP6500_HGVS_PROTEIN_VAR=NM_201279.1:p.(V468),NM_201267.1:p.(V468),NM_201266.1:p.(V468),NM_201264.1:p.(V468),NM_018534.3:p.(V468),NM_003872.2:p.(V468);ESP6500_MAF=2.2674,8.7835,4.4749;ESP6500_TAC=12424,582	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1630,138,0
chr2	205745778	rs849563	T	G	2170.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.904;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=30.57;ReadPosRankSum=-0.522;SOR=0.246;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs849563;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201266.1|protein_coding|10/17|c.1674T>G|p.Pro558Pro|2465/6662|1674/2796|558/931||,G|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_018534.3|protein_coding|10/16|c.1674T>G|p.Pro558Pro|2465/4142|1674/2721|558/906||,G|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201267.1|protein_coding|10/16|c.1674T>G|p.Pro558Pro|2465/4127|1674/2706|558/901||,G|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_003872.2|protein_coding|10/17|c.1674T>G|p.Pro558Pro|2465/6647|1674/2781|558/926||,G|synonymous_variant|LOW|NRP2|NRP2|transcript|NM_201279.1|protein_coding|10/16|c.1674T>G|p.Pro558Pro|2465/6596|1674/2730|558/909||,G|downstream_gene_variant|MODIFIER|NRP2|NRP2|transcript|NM_201264.1|protein_coding||c.*2199T>G|||||2080|;p3_1000G_AA=T|||;p3_1000G_AC=1282;p3_1000G_AF=0.25599;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=18439;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.1223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206610502;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=832,3574;ESP6500_AA_AGE=329.3+/-301.0;ESP6500_AA_GTC=75,682,1446;ESP6500_CDS_SIZES=NM_201279.1:2730,NM_201267.1:2706,NM_201266.1:2796,NM_018534.3:2721,NM_003872.2:2781;ESP6500_CG=-11.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=96;ESP6500_EA_AC=1216,7384;ESP6500_EA_AGE=245.4+/-274.3;ESP6500_EA_GTC=82,1052,3166;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201279.1:coding-synonymous,NM_201267.1:coding-synonymous,NM_201266.1:coding-synonymous,NM_018534.3:coding-synonymous,NM_003872.2:coding-synonymous;ESP6500_GL=NRP2;ESP6500_GRCh38_POSITION=2:205745778;ESP6500_GTC=157,1734,4612;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_201279.1:c.1674T>G,NM_201267.1:c.1674T>G,NM_201266.1:c.1674T>G,NM_018534.3:c.1674T>G,NM_003872.2:c.1674T>G;ESP6500_HGVS_PROTEIN_VAR=NM_201279.1:p.(P558),NM_201267.1:p.(P558),NM_201266.1:p.(P558),NM_018534.3:p.(P558),NM_003872.2:p.(P558);ESP6500_MAF=14.1395,18.8833,15.7466;ESP6500_TAC=2048,10958	GT:AD:DP:GQ:PL	1/1:1,70:71:99:2199,173,0
chr2	205749922	rs10932123	T	G	1362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.43;SOR=4.921;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932123;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201266.1|protein_coding|11/16|c.1903+81T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_018534.3|protein_coding|11/15|c.1903+81T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201267.1|protein_coding|11/15|c.1903+81T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_003872.2|protein_coding|11/16|c.1903+81T>G||||||,G|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201279.1|protein_coding|11/15|c.1903+81T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2748;p3_1000G_AF=0.548722;p3_1000G_AFR_AF=0.6316;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=18017;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206614646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1391,108,0
chr2	205765349	rs112194118;rs35659576	A	AAC	180.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-1.686;SOR=0.818;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35659576,rs112194118;dbSNPBuildID=126,132;ANN=AAC|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201266.1|protein_coding|13/16|c.2308-107_2308-106dupCA||||||INFO_REALIGN_3_PRIME,AAC|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_018534.3|protein_coding|13/15|c.2308-107_2308-106dupCA||||||INFO_REALIGN_3_PRIME,AAC|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201267.1|protein_coding|13/15|c.2308-107_2308-106dupCA||||||INFO_REALIGN_3_PRIME,AAC|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_003872.2|protein_coding|13/16|c.2308-107_2308-106dupCA||||||INFO_REALIGN_3_PRIME,AAC|intron_variant|MODIFIER|NRP2|NRP2|transcript|NM_201279.1|protein_coding|13/15|c.2308-107_2308-106dupCA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:16,8:24:99:218,0,467
chr2	206130286	rs4147725	A	G	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.086;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=10.62;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.527;SOR=0.025;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147725;dbSNPBuildID=110;ANN=G|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199984.1|protein_coding|14/18|c.1596-44T>C||||||,G|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199981.1|protein_coding|13/17|c.1446-44T>C||||||,G|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199982.1|protein_coding|11/15|c.1221-44T>C||||||,G|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199983.1|protein_coding|13/17|c.1383-44T>C||||||,G|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_005006.6|protein_coding|14/18|c.1554-44T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=1542;p3_1000G_AF=0.307907;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=18601;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.335;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=206995010;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1933,2473;ESP6500_AA_AGE=526.7+/-371.9;ESP6500_AA_GTC=430,1073,700;ESP6500_CDS_SIZES=NM_005006.6:2184,NM_001199984.1:2226,NM_001199983.1:2013,NM_001199982.1:1851,NM_001199981.1:2076;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=26;ESP6500_EA_AC=2682,5918;ESP6500_EA_AGE=420.3+/-353.3;ESP6500_EA_GTC=435,1812,2053;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005006.6:intron,NM_001199984.1:intron,NM_001199983.1:intron,NM_001199982.1:intron,NM_001199981.1:intron;ESP6500_GL=NDUFS1;ESP6500_GRCh38_POSITION=2:206130286;ESP6500_GTC=865,2885,2753;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005006.6:c.1554-44T>C,NM_001199984.1:c.1596-44T>C,NM_001199983.1:c.1383-44T>C,NM_001199982.1:c.1221-44T>C,NM_001199981.1:c.1446-44T>C;ESP6500_MAF=31.186,43.872,35.4836;ESP6500_TAC=4615,8391	GT:AD:DP:GQ:PL	0/1:10,9:19:99:250,0,289
chr2	206141952	rs1801318;129695	T	C	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.214;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=1.42;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1801318;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_001199984.1|protein_coding|12/19|c.1293A>G|p.Arg431Arg|1354/3393|1293/2226|431/741||,C|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_001199981.1|protein_coding|11/18|c.1143A>G|p.Arg381Arg|1326/3365|1143/2076|381/691||,C|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_001199982.1|protein_coding|9/16|c.918A>G|p.Arg306Arg|1157/3196|918/1851|306/616||,C|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_001199983.1|protein_coding|11/18|c.1080A>G|p.Arg360Arg|1342/3381|1080/2013|360/670||,C|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_005006.6|protein_coding|12/19|c.1251A>G|p.Arg417Arg|1434/3473|1251/2184|417/727||;p3_1000G_AA=T|||;p3_1000G_AC=1552;p3_1000G_AF=0.309904;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=14407;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.341;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207006676;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1934,2472;ESP6500_AA_AGE=544.5+/-376.5;ESP6500_AA_GTC=429,1076,698;ESP6500_CDS_SIZES=NM_005006.6:2184,NM_001199984.1:2226,NM_001199983.1:2013,NM_001199982.1:1851,NM_001199981.1:2076;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=76;ESP6500_EA_AC=2755,5845;ESP6500_EA_AGE=432.9+/-357.3;ESP6500_EA_GTC=454,1847,1999;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005006.6:coding-synonymous,NM_001199984.1:coding-synonymous,NM_001199983.1:coding-synonymous,NM_001199982.1:coding-synonymous,NM_001199981.1:coding-synonymous;ESP6500_GL=NDUFS1;ESP6500_GRCh38_POSITION=2:206141952;ESP6500_GTC=883,2923,2697;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005006.6:c.1251A>G,NM_001199984.1:c.1293A>G,NM_001199983.1:c.1080A>G,NM_001199982.1:c.918A>G,NM_001199981.1:c.1143A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005006.6:p.(R417),NM_001199984.1:p.(R431),NM_001199983.1:p.(R360),NM_001199982.1:p.(R306),NM_001199981.1:p.(R381);ESP6500_MAF=32.0349,43.8947,36.0526;ESP6500_TAC=4689,8317;CLINVAR_AF_ESP=0.3605;CLINVAR_AF_EXAC=0.31052;CLINVAR_AF_TGP=0.3099;CLINVAR_ALLELEID=135141;CLINVAR_CLNDISDB=MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLINVAR_CLNDN=Leigh_syndrome|Mitochondrial_complex_I_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.206141952T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27683;CLINVAR_GENEINFO=NDUFS1:4719;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1801318	GT:AD:DP:GQ:PL	0/1:6,10:16:99:234,0,125
chr2	206142101	rs4147718	C	A	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.253;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4147718;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199984.1|protein_coding|11/18|c.1176-32G>T||||||,A|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199981.1|protein_coding|10/17|c.1026-32G>T||||||,A|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199982.1|protein_coding|8/15|c.801-32G>T||||||,A|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199983.1|protein_coding|10/17|c.963-32G>T||||||,A|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_005006.6|protein_coding|11/18|c.1134-32G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1906;p3_1000G_AF=0.380591;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=14899;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.4423;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207006825;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2085,2307;ESP6500_AA_GTC=503,1079,614;ESP6500_CDS_SIZES=NM_005006.6:2184,NM_001199984.1:2226,NM_001199983.1:2013,NM_001199982.1:1851,NM_001199981.1:2076;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=24;ESP6500_EA_AC=3538,5056;ESP6500_EA_GTC=748,2042,1507;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005006.6:intron,NM_001199984.1:intron,NM_001199983.1:intron,NM_001199982.1:intron,NM_001199981.1:intron;ESP6500_GL=NDUFS1;ESP6500_GRCh38_POSITION=2:206142101;ESP6500_GTC=1251,3121,2121;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005006.6:c.1134-32G>T,NM_001199984.1:c.1176-32G>T,NM_001199983.1:c.963-32G>T,NM_001199982.1:c.801-32G>T,NM_001199981.1:c.1026-32G>T;ESP6500_MAF=41.1683,47.4727,43.3005;ESP6500_TAC=5623,7363	GT:AD:DP:GQ:PL	0/1:4,2:6:62:62,0,116
chr2	206143951	rs35409448	C	CT	164.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.389;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35409448;dbSNPBuildID=126;ANN=CT|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199984.1|protein_coding|10/18|c.1029+66_1029+67insA||||||,CT|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199981.1|protein_coding|9/17|c.879+66_879+67insA||||||,CT|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199982.1|protein_coding|7/15|c.654+66_654+67insA||||||,CT|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199983.1|protein_coding|9/17|c.816+66_816+67insA||||||,CT|intron_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_005006.6|protein_coding|10/18|c.987+66_987+67insA||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=2468;p3_1000G_AF=0.492812;p3_1000G_AFR_AF=0.761;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=18731;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.4831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207008675;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,6:12:99:202,0,201
chr2	206144039	rs1127566;129696	C	A	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.019;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.846;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1127566;dbSNPBuildID=108;ANN=A|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_001199984.1|protein_coding|10/19|c.1008G>T|p.Ala336Ala|1069/3393|1008/2226|336/741||,A|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_001199981.1|protein_coding|9/18|c.858G>T|p.Ala286Ala|1041/3365|858/2076|286/691||,A|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_001199982.1|protein_coding|7/16|c.633G>T|p.Ala211Ala|872/3196|633/1851|211/616||,A|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_001199983.1|protein_coding|9/18|c.795G>T|p.Ala265Ala|1057/3381|795/2013|265/670||,A|synonymous_variant|LOW|NDUFS1|NDUFS1|transcript|NM_005006.6|protein_coding|10/19|c.966G>T|p.Ala322Ala|1149/3473|966/2184|322/727||;p3_1000G_AA=C|||;p3_1000G_AC=2315;p3_1000G_AF=0.46226;p3_1000G_AFR_AF=0.6475;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=18330;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.4831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207008763;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2800,1606;ESP6500_AA_AGE=664.4+/-401.4;ESP6500_AA_GTC=896,1008,299;ESP6500_CDS_SIZES=NM_005006.6:2184,NM_001199984.1:2226,NM_001199983.1:2013,NM_001199982.1:1851,NM_001199981.1:2076;ESP6500_CG=-1.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=102;ESP6500_EA_AC=3828,4772;ESP6500_EA_AGE=538.9+/-383.5;ESP6500_EA_GTC=857,2114,1329;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005006.6:coding-synonymous,NM_001199984.1:coding-synonymous,NM_001199983.1:coding-synonymous,NM_001199982.1:coding-synonymous,NM_001199981.1:coding-synonymous;ESP6500_GL=NDUFS1;ESP6500_GRCh38_POSITION=2:206144039;ESP6500_GTC=1753,3122,1628;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005006.6:c.966G>T,NM_001199984.1:c.1008G>T,NM_001199983.1:c.795G>T,NM_001199982.1:c.633G>T,NM_001199981.1:c.858G>T;ESP6500_HGVS_PROTEIN_VAR=NM_005006.6:p.(A322),NM_001199984.1:p.(A336),NM_001199983.1:p.(A265),NM_001199982.1:p.(A211),NM_001199981.1:p.(A286);ESP6500_MAF=44.5116,36.4503,49.0389;ESP6500_TAC=6628,6378;CLINVAR_AF_EXAC=0.45366;CLINVAR_AF_TGP=0.4623;CLINVAR_ALLELEID=135142;CLINVAR_CLNDISDB=MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLINVAR_CLNDN=Leigh_syndrome|Mitochondrial_complex_I_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.206144039C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27656;CLINVAR_GENEINFO=NDUFS1:4719;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1127566	GT:AD:DP:GQ:PL	0/1:18,16:34:99:411,0,451
chr2	206160162	rs113729178;rs386392399	G	GC	229.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113729178,rs71034414;dbSNPBuildID=132,138;ANN=GC|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199984.1|protein_coding||c.-1030dupG|||||969|,GC|upstream_gene_variant|MODIFIER|SNORD51|SNORD51|transcript|NR_002589.1|pseudogene||n.-1719_-1718insC|||||1718|,GC|upstream_gene_variant|MODIFIER|SNORA41|SNORA41|transcript|NR_002590.1|pseudogene||n.-2066_-2065insC|||||2065|,GC|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199981.1|protein_coding||c.-6485dupG|||||644|,GC|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199982.1|protein_coding||c.-6541dupG|||||644|,GC|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199983.1|protein_coding||c.-10256dupG|||||644|,GC|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_005006.6|protein_coding||c.-6485dupG|||||644|,GC|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_001037663.1|protein_coding|2/6|c.80+106dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_001959.3|protein_coding|1/5|c.80+106dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_021121.3|protein_coding|2/6|c.80+106dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CCCC|CCC|CCCC|deletion;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=10292;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207024886;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:267,24,0
chr2	206160720	rs11689362	T	C	786.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.125;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=1.07;SOR=0.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11689362;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199984.1|protein_coding||c.-1587A>G|||||1526|,C|upstream_gene_variant|MODIFIER|SNORD51|SNORD51|transcript|NR_002589.1|pseudogene||n.-1161T>C|||||1161|,C|upstream_gene_variant|MODIFIER|SNORA41|SNORA41|transcript|NR_002590.1|pseudogene||n.-1508T>C|||||1508|,C|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199981.1|protein_coding||c.-7042A>G|||||1201|,C|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199982.1|protein_coding||c.-7098A>G|||||1201|,C|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199983.1|protein_coding||c.-10813A>G|||||1201|,C|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_005006.6|protein_coding||c.-7042A>G|||||1201|,C|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_001037663.1|protein_coding|3/6|c.203+10T>C||||||,C|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_001959.3|protein_coding|2/5|c.203+10T>C||||||,C|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_021121.3|protein_coding|3/6|c.203+10T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2305;p3_1000G_AF=0.460264;p3_1000G_AFR_AF=0.6483;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=19339;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.4781;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207025444;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2812,1594;ESP6500_AA_AGE=664.9+/-401.5;ESP6500_AA_GTC=900,1012,291;ESP6500_CDS_SIZES=NM_021121.3:678,NM_001959.3:678,NM_001037663.1:678;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=74;ESP6500_EA_AC=3835,4765;ESP6500_EA_AGE=539.2+/-383.6;ESP6500_EA_GTC=865,2105,1330;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021121.3:intron,NM_001959.3:intron,NM_001037663.1:intron;ESP6500_GL=EEF1B2;ESP6500_GRCh38_POSITION=2:206160720;ESP6500_GTC=1765,3117,1621;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021121.3:c.203+10T>C,NM_001959.3:c.203+10T>C,NM_001037663.1:c.203+10T>C;ESP6500_MAF=44.593,36.1779,48.8928;ESP6500_TAC=6647,6359	GT:AD:DP:GQ:PL	0/1:20,29:49:99:815,0,511
chr2	206162683	rs35430253;~rs35430253	C	CT	853.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.12;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=8.781;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.103;SOR=1.157;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35430253;dbSNPBuildID=126;ANN=CT|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199984.1|protein_coding||c.-3551_-3550insA|||||3490|,CT|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199981.1|protein_coding||c.-9006_-9005insA|||||3165|,CT|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199982.1|protein_coding||c.-9062_-9061insA|||||3165|,CT|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_001199983.1|protein_coding||c.-12777_-12776insA|||||3165|,CT|upstream_gene_variant|MODIFIER|NDUFS1|NDUFS1|transcript|NM_005006.6|protein_coding||c.-9006_-9005insA|||||3165|,CT|downstream_gene_variant|MODIFIER|SNORD51|SNORD51|transcript|NR_002589.1|pseudogene||n.*733_*734insT|||||734|,CT|downstream_gene_variant|MODIFIER|SNORA41|SNORA41|transcript|NR_002590.1|pseudogene||n.*324_*325insT|||||325|,CT|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_001037663.1|protein_coding|6/6|c.524-46_524-45insT||||||,CT|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_001959.3|protein_coding|5/5|c.524-46_524-45insT||||||,CT|intron_variant|MODIFIER|EEF1B2|EEF1B2|transcript|NM_021121.3|protein_coding|6/6|c.524-46_524-45insT||||||;p3_1000G_AA=T|-|T|deletion;p3_1000G_AC=2459;p3_1000G_AF=0.491014;p3_1000G_AFR_AF=0.7625;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=19439;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.4781;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207027407;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=INDEL;ESP6500_AA_AC=3117,1145;ESP6500_AA_GTC=1143,831,157;ESP6500_CDS_SIZES=NM_021121.3:678,NM_001959.3:678,NM_001037663.1:678;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=78;ESP6500_EA_AC=3664,4590;ESP6500_EA_GTC=812,2040,1275;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021121.3:intron,NM_001959.3:intron,NM_001037663.1:intron;ESP6500_GL=EEF1B2;ESP6500_GRCh38_POSITION=2:206162683;ESP6500_GTC=1955,2871,1432;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_021121.3:c.524-46_524-45insT,NM_001959.3:c.524-46_524-45insT,NM_001037663.1:c.524-46_524-45insT;ESP6500_MAF=44.3906,26.8653,45.8213;ESP6500_TAC=6781,5735	GT:AD:DP:GQ:PL	0/1:39,27:66:99:891,0,1354
chr2	206176329	rs3732083	T	C	758.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0.981;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.434;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732083;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|GPR1|GPR1|transcript|NM_001098199.1|protein_coding|3/3|c.919A>G|p.Ile307Val|1301/2314|919/1068|307/355||,C|missense_variant|MODERATE|GPR1|GPR1|transcript|NM_001261454.1|protein_coding|3/3|c.919A>G|p.Ile307Val|1147/2160|919/1068|307/355||,C|missense_variant|MODERATE|GPR1|GPR1|transcript|NM_001261455.1|protein_coding|3/3|c.919A>G|p.Ile307Val|1143/2156|919/1068|307/355||,C|missense_variant|MODERATE|GPR1|GPR1|transcript|NM_001261452.1|protein_coding|4/4|c.919A>G|p.Ile307Val|1552/2565|919/1068|307/355||,C|missense_variant|MODERATE|GPR1|GPR1|transcript|NM_001261453.1|protein_coding|4/4|c.919A>G|p.Ile307Val|1556/2569|919/1068|307/355||,C|missense_variant|MODERATE|GPR1|GPR1|transcript|NM_005279.3|protein_coding|3/3|c.919A>G|p.Ile307Val|1305/2318|919/1068|307/355||;p3_1000G_AA=T|||;p3_1000G_AC=2316;p3_1000G_AF=0.46246;p3_1000G_AFR_AF=0.6483;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=20495;p3_1000G_EAS_AF=0.2579;p3_1000G_EUR_AF=0.4831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207041053;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2780,1626;ESP6500_AA_AGE=662.2+/-401.0;ESP6500_AA_GTC=882,1016,305;ESP6500_CDS_SIZES=NM_005279.3:1068,NM_001261455.1:1068,NM_001261454.1:1068,NM_001261453.1:1068,NM_001261452.1:1068,NM_001098199.1:1068;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=100;ESP6500_EA_AC=3870,4730;ESP6500_EA_AGE=542.9+/-384.3;ESP6500_EA_GTC=881,2108,1311;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005279.3:missense,NM_001261455.1:missense,NM_001261454.1:missense,NM_001261453.1:missense,NM_001261452.1:missense,NM_001098199.1:missense;ESP6500_GL=GPR1;ESP6500_GRCh38_POSITION=2:206176329;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=1763,3124,1616;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005279.3:c.919A>G,NM_001261455.1:c.919A>G,NM_001261454.1:c.919A>G,NM_001261453.1:c.919A>G,NM_001261452.1:c.919A>G,NM_001098199.1:c.919A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005279.3:p.(I307V),NM_001261455.1:p.(I307V),NM_001261454.1:p.(I307V),NM_001261453.1:p.(I307V),NM_001261452.1:p.(I307V),NM_001098199.1:p.(I307V);ESP6500_MAF=45.0,36.9042,48.8698;ESP6500_PH=benign:0.08,benign:0.08,benign:0.08,benign:0.08,benign:0.08,benign:0.08;ESP6500_TAC=6650,6356	GT:AD:DP:GQ:PL	0/1:32,29:61:99:787,0,830
chr2	206176717	rs3732082	G	A	1198.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.375;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=0.799;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=2.89;SOR=0.824;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732082;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001098199.1|protein_coding|3/3|c.531C>T|p.Asp177Asp|913/2314|531/1068|177/355||,A|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001261454.1|protein_coding|3/3|c.531C>T|p.Asp177Asp|759/2160|531/1068|177/355||,A|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001261455.1|protein_coding|3/3|c.531C>T|p.Asp177Asp|755/2156|531/1068|177/355||,A|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001261452.1|protein_coding|4/4|c.531C>T|p.Asp177Asp|1164/2565|531/1068|177/355||,A|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001261453.1|protein_coding|4/4|c.531C>T|p.Asp177Asp|1168/2569|531/1068|177/355||,A|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_005279.3|protein_coding|3/3|c.531C>T|p.Asp177Asp|917/2318|531/1068|177/355||;p3_1000G_AA=G|||;p3_1000G_AC=1729;p3_1000G_AF=0.345248;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=20700;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.3738;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207041441;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1959,2447;ESP6500_AA_AGE=546.9+/-377.1;ESP6500_AA_GTC=446,1067,690;ESP6500_CDS_SIZES=NM_005279.3:1068,NM_001261455.1:1068,NM_001261454.1:1068,NM_001261453.1:1068,NM_001261452.1:1068,NM_001098199.1:1068;ESP6500_CG=-1.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=78;ESP6500_EA_AC=2983,5617;ESP6500_EA_AGE=460.2+/-365.1;ESP6500_EA_GTC=530,1923,1847;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005279.3:coding-synonymous,NM_001261455.1:coding-synonymous,NM_001261454.1:coding-synonymous,NM_001261453.1:coding-synonymous,NM_001261452.1:coding-synonymous,NM_001098199.1:coding-synonymous;ESP6500_GL=GPR1;ESP6500_GRCh38_POSITION=2:206176717;ESP6500_GTC=976,2990,2537;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005279.3:c.531C>T,NM_001261455.1:c.531C>T,NM_001261454.1:c.531C>T,NM_001261453.1:c.531C>T,NM_001261452.1:c.531C>T,NM_001098199.1:c.531C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005279.3:p.(D177),NM_001261455.1:p.(D177),NM_001261454.1:p.(D177),NM_001261453.1:p.(D177),NM_001261452.1:p.(D177),NM_001098199.1:p.(D177);ESP6500_MAF=34.686,44.4621,37.9978;ESP6500_TAC=4942,8064	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1227,0,1164
chr2	206177209	rs3755227	T	C	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.666;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.708;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.44;ReadPosRankSum=-1.209;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3755227;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001098199.1|protein_coding|3/3|c.39A>G|p.Glu13Glu|421/2314|39/1068|13/355||,C|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001261454.1|protein_coding|3/3|c.39A>G|p.Glu13Glu|267/2160|39/1068|13/355||,C|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001261455.1|protein_coding|3/3|c.39A>G|p.Glu13Glu|263/2156|39/1068|13/355||,C|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001261452.1|protein_coding|4/4|c.39A>G|p.Glu13Glu|672/2565|39/1068|13/355||,C|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_001261453.1|protein_coding|4/4|c.39A>G|p.Glu13Glu|676/2569|39/1068|13/355||,C|synonymous_variant|LOW|GPR1|GPR1|transcript|NM_005279.3|protein_coding|3/3|c.39A>G|p.Glu13Glu|425/2318|39/1068|13/355||;p3_1000G_AA=T|||;p3_1000G_AC=435;p3_1000G_AF=0.086861;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=17424;p3_1000G_EAS_AF=0.0724;p3_1000G_EUR_AF=0.1342;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207041933;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1585;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=108,4298;ESP6500_AA_GTC=4,100,2099;ESP6500_CDS_SIZES=NM_005279.3:1068,NM_001261455.1:1068,NM_001261454.1:1068,NM_001261453.1:1068,NM_001261452.1:1068,NM_001098199.1:1068;ESP6500_CG=-3.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=69;ESP6500_EA_AC=1176,7422;ESP6500_EA_GTC=85,1006,3208;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005279.3:coding-synonymous,NM_001261455.1:coding-synonymous,NM_001261454.1:coding-synonymous,NM_001261453.1:coding-synonymous,NM_001261452.1:coding-synonymous,NM_001098199.1:coding-synonymous;ESP6500_GL=GPR1;ESP6500_GRCh38_POSITION=2:206177209;ESP6500_GTC=89,1106,5307;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005279.3:c.39A>G,NM_001261455.1:c.39A>G,NM_001261454.1:c.39A>G,NM_001261453.1:c.39A>G,NM_001261452.1:c.39A>G,NM_001098199.1:c.39A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005279.3:p.(E13),NM_001261455.1:p.(E13),NM_001261454.1:p.(E13),NM_001261453.1:p.(E13),NM_001261452.1:p.(E13),NM_001098199.1:p.(E13);ESP6500_MAF=13.6776,2.4512,9.8739;ESP6500_TAC=1284,11720	GT:AD:DP:GQ:PL	0/1:8,21:29:99:592,0,164
chr2	206587427	rs3832131;rs397711140	GT	G	60.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.718;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=0.366;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3832131;dbSNPBuildID=134,138;ANN=G|intron_variant|MODIFIER|ADAM23|ADAM23|transcript|NM_003812.3|protein_coding|19/25|c.1788+61delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTTTT|TTTTTTTTT|TTTTTTTT|insertion;p3_1000G_AC=4095;p3_1000G_AF=0.817692;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=14486;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207452151;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6718;p3_1000G_VT=INDEL;ESP6500_AA_AC=4012,242;ESP6500_AA_GTC=1896,220,11;ESP6500_CDS_SIZES=NM_003812.2:2499;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=28;ESP6500_EA_AC=6878,1350;ESP6500_EA_GTC=2884,1110,120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003812.2:intron;ESP6500_GL=ADAM23;ESP6500_GRCh38_POSITION=2:206587427;ESP6500_GTC=4780,1330,131;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003812.2:c.1788+53del1;ESP6500_MAF=16.4074,5.6888,12.7544;ESP6500_TAC=10890,1592	GT:AD:DP:GQ:PL	0/1:3,4:7:66:98,0,66
chr2	206594743	rs3732079	C	T	497.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.237;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-0.479;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732079;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|ADAM23|ADAM23|transcript|NM_003812.3|protein_coding|23/26|c.2085C>T|p.Ala695Ala|2308/6226|2085/2499|695/832||;p3_1000G_AA=T|||;p3_1000G_AC=896;p3_1000G_AF=0.178914;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=21136;p3_1000G_EAS_AF=0.1736;p3_1000G_EUR_AF=0.1193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207459467;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=980,3426;ESP6500_AA_AGE=732.4+/-410.4;ESP6500_AA_GTC=108,764,1331;ESP6500_CDS_SIZES=NM_003812.2:2499;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=173;ESP6500_EA_AC=855,7745;ESP6500_EA_AGE=780.2+/-407.7;ESP6500_EA_GTC=52,751,3497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003812.2:coding-synonymous;ESP6500_GL=ADAM23;ESP6500_GRCh38_POSITION=2:206594743;ESP6500_GTC=160,1515,4828;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003812.2:c.2085C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003812.2:p.(A695);ESP6500_MAF=9.9419,22.2424,14.1089;ESP6500_TAC=1835,11171	GT:AD:DP:GQ:PL	0/1:14,18:32:99:526,0,377
chr2	206605974	rs182037082	G	A	29.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.95;ReadPosRankSum=-0.674;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs182037082;dbSNPBuildID=135;ANN=A|intron_variant|MODIFIER|ADAM23|ADAM23|transcript|NM_003812.3|protein_coding|24/25|c.2360-3936G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=15;p3_1000G_AF=0.00299521;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18172;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207470698;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:58:58,0,109
chr2	206704991	rs16838626	T	C	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.11;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.63;SOR=0.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16838626;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|DYTN|DYTN|transcript|NM_001093730.1|protein_coding|4/11|c.383-48A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1707;p3_1000G_AF=0.340855;p3_1000G_AFR_AF=0.3359;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=19313;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.3161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207569715;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1144,2700;ESP6500_AA_GTC=170,804,948;ESP6500_CDS_SIZES=NM_001093730.1:1737;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=40;ESP6500_EA_AC=2474,5750;ESP6500_EA_GTC=380,1714,2018;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001093730.1:intron;ESP6500_GL=DYTN;ESP6500_GRCh38_POSITION=2:206704991;ESP6500_GTC=550,2518,2966;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001093730.1:c.383-48A>G;ESP6500_MAF=30.0827,29.7607,29.9801;ESP6500_TAC=3618,8450	GT:AD:DP:GQ:PL	0/1:9,14:23:99:382,0,192
chr2	206738510	rs2287631	T	G	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.264;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.609;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287631;dbSNPBuildID=100;ANN=G|missense_variant&splice_region_variant|MODERATE|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|12/12|c.1530A>C|p.Glu510Asp|1808/2553|1530/1557|510/518||,G|missense_variant&splice_region_variant|MODERATE|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|12/12|c.1527A>C|p.Glu509Asp|1805/2550|1527/1554|509/517||,G|splice_region_variant&non_coding_transcript_exon_variant|LOW|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|10/10|n.1447A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2092;p3_1000G_AF=0.417732;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=19969;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.1412;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207603234;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2223,2181;ESP6500_AA_AGE=573.3+/-383.5;ESP6500_AA_GTC=552,1119,531;ESP6500_CDS_SIZES=NM_001039845.1:1557;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=80;ESP6500_EA_AC=1278,7314;ESP6500_EA_AGE=752.3+/-407.4;ESP6500_EA_GTC=97,1084,3115;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001039845.1:missense-near-splice;ESP6500_GL=MDH1B;ESP6500_GRCh38_POSITION=2:206738510;ESP6500_GS=45;ESP6500_GTC=649,2203,3646;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001039845.1:c.1530A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001039845.1:p.(E510D);ESP6500_MAF=14.8743,49.5232,26.9391;ESP6500_PH=benign:0.0;ESP6500_TAC=3501,9495	GT:AD:DP:GQ:PL	0/1:13,14:27:99:273,0,330
chr2	206740886	rs10173497	A	C	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.507;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.165;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10173497;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|10/11|c.1459+168T>G||||||,C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|10/11|c.1459+168T>G||||||,C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|8/9|n.1376+168T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2049;p3_1000G_AF=0.409145;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=18397;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207605610;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:273,0,323
chr2	206741009	rs10197325	C	T	953.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.246;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-1.676;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10197325;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|10/11|c.1459+45G>A||||||,T|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|10/11|c.1459+45G>A||||||,T|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|8/9|n.1376+45G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2089;p3_1000G_AF=0.417133;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=18703;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.1421;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207605733;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2228,2178;ESP6500_AA_AGE=586.1+/-386.4;ESP6500_AA_GTC=553,1122,528;ESP6500_CDS_SIZES=NM_001039845.1:1557;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=98;ESP6500_EA_AC=1248,7350;ESP6500_EA_AGE=760.3+/-407.6;ESP6500_EA_GTC=94,1060,3145;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039845.1:intron;ESP6500_GL=MDH1B;ESP6500_GRCh38_POSITION=2:206741009;ESP6500_GTC=647,2182,3673;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001039845.1:c.1459+45G>A;ESP6500_MAF=14.515,49.4326,26.7302;ESP6500_TAC=3476,9528	GT:AD:DP:GQ:PL	0/1:41,42:83:99:982,0,969
chr2	206741158	rs10173707	A	G	676.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.37;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.035;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.11;SOR=0.538;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10173707;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|9/11|c.1409-54T>C||||||,G|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|9/11|c.1409-54T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|8/10|n.1272T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2088;p3_1000G_AF=0.416933;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=19043;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207605882;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=711,673;ESP6500_AA_GTC=183,345,164;ESP6500_CDS_SIZES=NM_001039845.1:1557;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=69;ESP6500_EA_AC=476,2700;ESP6500_EA_GTC=37,402,1149;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039845.1:intron;ESP6500_GL=MDH1B;ESP6500_GRCh38_POSITION=2:206741158;ESP6500_GTC=220,747,1313;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001039845.1:c.1409-54T>C;ESP6500_MAF=14.9874,48.6272,26.0307;ESP6500_TAC=1187,3373	GT:AD:DP:GQ:PL	0/1:32,24:56:99:705,0,780
chr2	206741252	rs10209871	T	C	646.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.168;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.347;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-1.029;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10209871;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|9/11|c.1409-148A>G||||||,C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|9/11|c.1409-148A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|8/10|n.1178A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2089;p3_1000G_AF=0.417133;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=20915;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207605976;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,27:53:99:675,0,643
chr2	206741370	rs4673362	A	G	273.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.75;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=10.263;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-1.125;SOR=3.69;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4673362;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|9/11|c.1409-266T>C||||||,G|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|9/11|c.1409-266T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|8/10|n.1060T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2089;p3_1000G_AF=0.417133;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=19382;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207606094;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:302,0,250
chr2	206746185	rs7591076	A	C	187.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.83;ReadPosRankSum=0.366;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7591076;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|8/11|c.1356+102T>G||||||,C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|8/11|c.1356+102T>G||||||,C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|6/9|n.995+102T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2100;p3_1000G_AF=0.419329;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=15874;p3_1000G_EAS_AF=0.5466;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207610909;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,6:7:19:216,0,19
chr2	206746506	rs2302922	T	G	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=0.431;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302922;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|7/11|c.1217-80A>C||||||,G|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|7/11|c.1217-80A>C||||||,G|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|5/9|n.856-80A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2155;p3_1000G_AF=0.430312;p3_1000G_AFR_AF=0.553;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=20166;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.1481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207611230;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:63:63,0,124
chr2	206749256	rs13427620	G	A	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.823;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.967;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13427620;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|6/11|c.1053-73C>T||||||,A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|6/11|c.1053-73C>T||||||,A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|4/9|n.692-73C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2603;p3_1000G_AF=0.519768;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=19686;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.5417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207613980;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:196,0,137
chr2	206760843	rs1862087	T	C	471.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.66;ReadPosRankSum=1.21;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1862087;dbSNPBuildID=92;ANN=C|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136193.1|protein_coding||c.-5851T>C|||||4545|,C|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136194.1|protein_coding||c.-5851T>C|||||4545|,C|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_014929.3|protein_coding||c.-5851T>C|||||4545|,C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|2/11|c.135+58A>G||||||,C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|2/11|c.135+58A>G||||||,C|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|2/9|n.413+58A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1967;p3_1000G_AF=0.392772;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=17495;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207625567;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,17:24:99:500,0,110
chr2	206765071	rs16838834	T	A	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.1;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=2.087;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.099;SOR=1.7;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16838834;dbSNPBuildID=123;ANN=A|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136193.1|protein_coding||c.-1623T>A|||||317|,A|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136194.1|protein_coding||c.-1623T>A|||||317|,A|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_014929.3|protein_coding||c.-1623T>A|||||317|,A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|1/11|c.22+179A>T||||||,A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|1/11|c.22+179A>T||||||,A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|1/9|n.300+179A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1941;p3_1000G_AF=0.38758;p3_1000G_AFR_AF=0.2042;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=21496;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207629795;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,11:27:99:345,0,419
chr2	206765097	rs28365798;rs3842559	T	TGCAA	489.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=4.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-0.914;SOR=1.981;INS;HET;VARTYPE=INS;dbSNP138_ID=rs28365798;dbSNPBuildID=125,107;ANN=TGCAA|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136193.1|protein_coding||c.-1597_-1596insGCAA|||||290|,TGCAA|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136194.1|protein_coding||c.-1597_-1596insGCAA|||||290|,TGCAA|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_014929.3|protein_coding||c.-1597_-1596insGCAA|||||290|,TGCAA|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|1/11|c.22+152_22+153insTTGC||||||,TGCAA|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|1/11|c.22+152_22+153insTTGC||||||,TGCAA|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|1/9|n.300+152_300+153insTTGC||||||;p3_1000G_AC=2006;p3_1000G_AF=0.400559;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=21200;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.1978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207629821;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:17,14:31:99:527,0,784
chr2	206765122	rs28365797	A	T	553.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.69;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-1.561;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28365797;dbSNPBuildID=125;ANN=T|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136193.1|protein_coding||c.-1572A>T|||||266|,T|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136194.1|protein_coding||c.-1572A>T|||||266|,T|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_014929.3|protein_coding||c.-1572A>T|||||266|,T|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|1/11|c.22+128T>A||||||,T|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|1/11|c.22+128T>A||||||,T|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|1/9|n.300+128T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2006;p3_1000G_AF=0.400559;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=19914;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.1978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207629846;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,20:36:99:582,0,453
chr2	206765180	rs3828294	G	A	1145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.675;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=2.112;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.477;SOR=1.054;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828294;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136193.1|protein_coding||c.-1514G>A|||||208|,A|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136194.1|protein_coding||c.-1514G>A|||||208|,A|upstream_gene_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_014929.3|protein_coding||c.-1514G>A|||||208|,A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001039845.2|protein_coding|1/11|c.22+70C>T||||||,A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NM_001282940.1|protein_coding|1/11|c.22+70C>T||||||,A|intron_variant|MODIFIER|MDH1B|MDH1B|transcript|NR_104261.1|pseudogene|1/9|n.300+70C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2856;p3_1000G_AF=0.570288;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=18673;p3_1000G_EAS_AF=0.756;p3_1000G_EUR_AF=0.2594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207629904;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=926,458;ESP6500_AA_GTC=313,300,79;ESP6500_CDS_SIZES=NM_001039845.1:1557;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=28;ESP6500_EA_AC=829,2353;ESP6500_EA_GTC=98,633,860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039845.1:intron;ESP6500_GL=MDH1B;ESP6500_GRCh38_POSITION=2:206765180;ESP6500_GTC=411,933,939;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039845.1:c.22+70C>T;ESP6500_MAF=26.0528,33.0925,38.4363;ESP6500_TAC=1755,2811	GT:AD:DP:GQ:PL	0/1:27,45:72:99:1174,0,629
chr2	206771794	rs12620432	C	T	13.72	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=13.72;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12620432;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136193.1|protein_coding|4/11|c.991-100C>T||||||,T|intron_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_001136194.1|protein_coding|4/11|c.991-100C>T||||||,T|intron_variant|MODIFIER|FASTKD2|FASTKD2|transcript|NM_014929.3|protein_coding|4/11|c.991-100C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=552;p3_1000G_AF=0.110224;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=13807;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207636518;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,1:1:3:40,3,0
chr2	206949549	rs75295922	C	A	240.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.669;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.3;SOR=0.243;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75295922;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|CPO|CPO|transcript|NM_173077.2|protein_coding|1/8|c.69-68C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=330;p3_1000G_AF=0.0658946;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=18388;p3_1000G_EAS_AF=0.1667;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207814273;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:269,0,364
chr2	206955552	rs13420911	G	A	1340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=1.28;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13420911;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|CPO|CPO|transcript|NM_173077.2|protein_coding|3/9|c.255G>A|p.Met85Ile|301/1209|255/1125|85/374||;p3_1000G_AA=G|||;p3_1000G_AC=1915;p3_1000G_AF=0.382388;p3_1000G_AFR_AF=0.3843;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=20214;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207820276;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1709,2697;ESP6500_AA_AGE=515.5+/-368.9;ESP6500_AA_GTC=344,1021,838;ESP6500_CDS_SIZES=NM_173077.2:1125;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=136;ESP6500_EA_AC=4090,4510;ESP6500_EA_AGE=560.3+/-387.6;ESP6500_EA_GTC=975,2140,1185;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173077.2:missense;ESP6500_GL=CPO;ESP6500_GRCh38_POSITION=2:206955552;ESP6500_GS=10;ESP6500_GTC=1319,3161,2023;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173077.2:c.255G>A;ESP6500_HGVS_PROTEIN_VAR=NM_173077.2:p.(M85I);ESP6500_MAF=47.5581,38.788,44.5871;ESP6500_PH=benign:0.021;ESP6500_TAC=5799,7207	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1369,134,0
chr2	206959660	rs11903403	T	G	905.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11903403;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|CPO|CPO|transcript|NM_173077.2|protein_coding|5/9|c.402T>G|p.Ser134Arg|448/1209|402/1125|134/374||;p3_1000G_AA=G|||;p3_1000G_AC=2174;p3_1000G_AF=0.434105;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=18780;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207824384;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2306,2100;ESP6500_AA_AGE=574.0+/-383.7;ESP6500_AA_GTC=627,1052,524;ESP6500_CDS_SIZES=NM_173077.2:1125;ESP6500_CG=1.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=124;ESP6500_EA_AC=4115,4485;ESP6500_EA_AGE=592.0+/-392.9;ESP6500_EA_GTC=991,2133,1176;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173077.2:missense;ESP6500_GL=CPO;ESP6500_GRCh38_POSITION=2:206959660;ESP6500_GS=110;ESP6500_GTC=1618,3185,1700;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_173077.2:c.402T>G;ESP6500_HGVS_PROTEIN_VAR=NM_173077.2:p.(S134R);ESP6500_MAF=47.8488,47.6623,49.3695;ESP6500_PH=benign:0.0;ESP6500_TAC=6421,6585	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:90:1|1:206959659_G_T:934,90,0
chr2	206959824	rs1453168	G	A	293.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1453168;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|CPO|CPO|transcript|NM_173077.2|protein_coding|5/8|c.483+83G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3207;p3_1000G_AF=0.640375;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=17159;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.6968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207824548;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:322,27,0
chr2	206960932	rs13397039	A	T	2027.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.539;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13397039;dbSNPBuildID=121;ANN=T|synonymous_variant|LOW|CPO|CPO|transcript|NM_173077.2|protein_coding|6/9|c.564A>T|p.Ala188Ala|610/1209|564/1125|188/374||;p3_1000G_AA=A|||;p3_1000G_AC=1918;p3_1000G_AF=0.382987;p3_1000G_AFR_AF=0.3707;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=21629;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.4573;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207825656;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1662,2744;ESP6500_AA_AGE=507.6+/-366.7;ESP6500_AA_GTC=329,1004,870;ESP6500_CDS_SIZES=NM_173077.2:1125;ESP6500_CG=-1.9;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=181;ESP6500_EA_AC=4088,4512;ESP6500_EA_AGE=560.3+/-387.6;ESP6500_EA_GTC=976,2136,1188;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173077.2:coding-synonymous;ESP6500_GL=CPO;ESP6500_GRCh38_POSITION=2:206960932;ESP6500_GTC=1305,3140,2058;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_173077.2:c.564A>T;ESP6500_HGVS_PROTEIN_VAR=NM_173077.2:p.(A188);ESP6500_MAF=47.5349,37.7213,44.2104;ESP6500_TAC=5750,7256	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2056,194,0
chr2	206969124	rs7582092	A	G	905.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.19;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7582092;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CPO|CPO|transcript|NM_173077.2|protein_coding|8/8|c.863-50A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3121;p3_1000G_AF=0.623203;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.4539;p3_1000G_AN=5008;p3_1000G_DP=20969;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.667;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207833848;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3322,1084;ESP6500_AA_AGE=364.1+/-316.8;ESP6500_AA_GTC=1259,804,140;ESP6500_CDS_SIZES=NM_173077.2:1125;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=5781,2819;ESP6500_EA_AGE=435.1+/-357.9;ESP6500_EA_GTC=1938,1905,457;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173077.2:intron;ESP6500_GL=CPO;ESP6500_GRCh38_POSITION=2:206969124;ESP6500_GTC=3197,2709,597;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173077.2:c.863-50A>G;ESP6500_MAF=32.7791,24.6028,30.0092;ESP6500_TAC=9103,3903	GT:AD:DP:GQ:PL	1/1:0,30:30:90:934,90,0
chr2	206969259	rs7582305	A	G	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.476;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=-0.713;SOR=0.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7582305;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|CPO|CPO|transcript|NM_173077.2|protein_coding|9/9|c.948A>G|p.Thr316Thr|994/1209|948/1125|316/374||;p3_1000G_AA=A|||;p3_1000G_AC=1443;p3_1000G_AF=0.288139;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=19868;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.3032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207833983;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1560,2846;ESP6500_AA_AGE=489.4+/-361.5;ESP6500_AA_GTC=292,976,935;ESP6500_CDS_SIZES=NM_173077.2:1125;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=132;ESP6500_EA_AC=2629,5971;ESP6500_EA_AGE=424.1+/-354.6;ESP6500_EA_GTC=404,1821,2075;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173077.2:coding-synonymous;ESP6500_GL=CPO;ESP6500_GRCh38_POSITION=2:206969259;ESP6500_GTC=696,2797,3010;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173077.2:c.948A>G;ESP6500_HGVS_PROTEIN_VAR=NM_173077.2:p.(T316);ESP6500_MAF=30.5698,35.4063,32.2082;ESP6500_TAC=4189,8817	GT:AD:DP:GQ:PL	0/1:39,20:59:99:452,0,989
chr2	207081061	rs1128555	A	G	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=2.2;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1128555;dbSNPBuildID=111;ANN=G|3_prime_UTR_variant|MODIFIER|KLF7|KLF7|transcript|NM_003709.3|protein_coding|4/4|c.*152T>C|||||152|,G|3_prime_UTR_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270944.1|protein_coding|4/4|c.*152T>C|||||152|,G|3_prime_UTR_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270942.1|protein_coding|5/5|c.*166T>C|||||166|,G|3_prime_UTR_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270943.1|protein_coding|4/4|c.*152T>C|||||152|,G|non_coding_transcript_exon_variant|MODIFIER|KLF7|KLF7|transcript|NR_073108.1|pseudogene|5/5|n.903T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=1261;p3_1000G_AF=0.251797;p3_1000G_AFR_AF=0.3086;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=12137;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207945785;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,2:9:40:40,0,205
chr2	207123889	rs2700166	C	T	2954.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=100;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2700166;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|KLF7|KLF7|transcript|NM_003709.3|protein_coding|2/4|c.618G>A|p.Leu206Leu|1066/8432|618/909|206/302||,T|synonymous_variant|LOW|KLF7|KLF7|transcript|NM_001270944.1|protein_coding|2/4|c.534G>A|p.Leu178Leu|587/7953|534/825|178/274||,T|synonymous_variant|LOW|KLF7|KLF7|transcript|NM_001270943.1|protein_coding|2/4|c.519G>A|p.Leu173Leu|623/7989|519/810|173/269||,T|intron_variant|MODIFIER|KLF7|KLF7|transcript|NR_073108.1|pseudogene|3/4|n.575+455G>A||||||,T|intron_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270942.1|protein_coding|3/4|c.531+87G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4795;p3_1000G_AF=0.957468;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=17962;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207988613;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3868,538;ESP6500_AA_AGE=243.4+/-253.1;ESP6500_AA_GTC=1696,476,31;ESP6500_CDS_SIZES=NM_003709.2:909;ESP6500_CG=-5.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=77;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003709.2:coding-synonymous;ESP6500_GL=KLF7;ESP6500_GRCh38_POSITION=2:207123889;ESP6500_GTC=5995,477,31;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003709.2:c.618G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003709.2:p.(L206);ESP6500_MAF=0.0116,12.2106,4.1442;ESP6500_TAC=12467,539	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2983,300,0
chr2	207134076	rs2284934	C	T	2077.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=0.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2284934;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|KLF7|KLF7|transcript|NM_001270944.1|protein_coding|1/4|c.9G>A|p.Pro3Pro|62/7953|9/825|3/274||,T|intron_variant|MODIFIER|KLF7|KLF7|transcript|NM_003709.3|protein_coding|1/3|c.103-9672G>A||||||,T|intron_variant|MODIFIER|KLF7|KLF7|transcript|NR_073108.1|pseudogene|2/4|n.515-9672G>A||||||,T|intron_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270942.1|protein_coding|2/4|c.103-9672G>A||||||,T|intron_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270943.1|protein_coding|1/3|c.4-9672G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3250;p3_1000G_AF=0.648962;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=15303;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=207998800;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2106,230,0
chr2	207165385	rs57641951	T	A	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.341;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=4.192;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.425;SOR=1.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57641951;dbSNPBuildID=129;ANN=A|upstream_gene_variant|MODIFIER|MIR7845|MIR7845|transcript|NR_106999.1|pseudogene||n.-1015T>A|||||1015|,A|intron_variant|MODIFIER|KLF7|KLF7|transcript|NM_003709.3|protein_coding|1/3|c.102+82A>T||||||,A|intron_variant|MODIFIER|KLF7|KLF7|transcript|NR_073108.1|pseudogene|2/4|n.514+82A>T||||||,A|intron_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270942.1|protein_coding|2/4|c.102+82A>T||||||,A|intron_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270943.1|protein_coding|1/3|c.3+1755A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=66;p3_1000G_AF=0.0131789;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=14891;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208030109;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,17:28:99:436,0,242
chr2	207167072	rs2037893	C	G	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.956;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.037;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2037893;dbSNPBuildID=94;ANN=G|upstream_gene_variant|MODIFIER|KLF7|KLF7|transcript|NM_003709.3|protein_coding||c.-1504G>C|||||1056|,G|upstream_gene_variant|MODIFIER|KLF7|KLF7|transcript|NR_073108.1|pseudogene||n.-886G>C|||||886|,G|upstream_gene_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270942.1|protein_coding||c.-1504G>C|||||216|,G|downstream_gene_variant|MODIFIER|MIR7845|MIR7845|transcript|NR_106999.1|pseudogene||n.*574C>G|||||574|,G|intron_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270943.1|protein_coding|1/3|c.3+68G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3219;p3_1000G_AF=0.642772;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.7349;p3_1000G_AN=5008;p3_1000G_DP=12802;p3_1000G_EAS_AF=0.8998;p3_1000G_EUR_AF=0.6352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208031796;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7025;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,9:23:99:242,0,426
chr2	207167268	rs1269424	T	A	954.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1269424;dbSNPBuildID=87;ANN=A|upstream_gene_variant|MODIFIER|KLF7|KLF7|transcript|NM_003709.3|protein_coding||c.-1700A>T|||||1252|,A|upstream_gene_variant|MODIFIER|KLF7|KLF7|transcript|NR_073108.1|pseudogene||n.-1082A>T|||||1082|,A|upstream_gene_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270942.1|protein_coding||c.-1700A>T|||||412|,A|upstream_gene_variant|MODIFIER|KLF7|KLF7|transcript|NM_001270943.1|protein_coding||c.-126A>T|||||22|,A|downstream_gene_variant|MODIFIER|MIR7845|MIR7845|transcript|NR_106999.1|pseudogene||n.*770T>A|||||770|,A|intergenic_region|MODIFIER|KLF7-LOC101927865|KLF7-LOC101927865|intergenic_region|KLF7-LOC101927865|||n.207167268T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4883;p3_1000G_AF=0.97504;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19022;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208031992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:983,101,0
chr2	207613128	rs2551949	G	A	1710.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.28;SOR=0.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2551949;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|METTL21A|METTL21A|transcript|NM_001330137.1|protein_coding|5/5|c.629C>T|p.Thr210Ile|805/1194|629/711|210/236||,A|missense_variant|MODERATE|METTL21A|METTL21A|transcript|NM_145280.6|protein_coding|4/4|c.575C>T|p.Thr192Ile|751/1140|575/657|192/218||,A|missense_variant|MODERATE|METTL21A|METTL21A|transcript|NM_001127395.3|protein_coding|4/4|c.575C>T|p.Thr192Ile|921/1310|575/657|192/218||,A|missense_variant|MODERATE|METTL21A|METTL21A|transcript|NM_001330130.1|protein_coding|4/4|c.575C>T|p.Thr192Ile|718/1107|575/657|192/218||,A|missense_variant|MODERATE|METTL21A|METTL21A|transcript|NM_001330134.1|protein_coding|4/4|c.575C>T|p.Thr192Ile|981/1370|575/657|192/218||,A|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330136.1|protein_coding|3/3|c.259+8678C>T||||||,A|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001308021.2|protein_coding|3/4|c.259+8678C>T||||||,A|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330131.1|protein_coding|3/3|c.259+8678C>T||||||,A|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330135.1|protein_coding|3/3|c.259+8678C>T||||||,A|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330132.1|protein_coding|3/3|c.259+8678C>T||||||,A|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330133.1|protein_coding|3/3|c.259+8678C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4528;p3_1000G_AF=0.904153;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=21589;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208477852;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3826,580;ESP6500_AA_AGE=771.5+/-413.8;ESP6500_AA_GTC=1661,504,38;ESP6500_CDS_SIZES=NM_145280.4:657,NM_001127395.1:657;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=154;ESP6500_EA_AC=7025,1575;ESP6500_EA_AGE=744.2+/-407.2;ESP6500_EA_GTC=2855,1315,130;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145280.4:missense,NM_001127395.1:missense;ESP6500_GL=METTL21A;ESP6500_GRCh38_POSITION=2:207613128;ESP6500_GS=89,89;ESP6500_GTC=4516,1819,168;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145280.4:c.575C>T,NM_001127395.1:c.575C>T;ESP6500_HGVS_PROTEIN_VAR=NM_145280.4:p.(T192I),NM_001127395.1:p.(T192I);ESP6500_MAF=18.314,13.1639,16.5693;ESP6500_PH=benign:0.047,benign:0.047;ESP6500_TAC=10851,2155	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1739,159,0
chr2	207613232	rs2709416	C	T	1841.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.49;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2709416;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|METTL21A|METTL21A|transcript|NM_001330137.1|protein_coding|5/5|c.525G>A|p.Gln175Gln|701/1194|525/711|175/236||,T|synonymous_variant|LOW|METTL21A|METTL21A|transcript|NM_145280.6|protein_coding|4/4|c.471G>A|p.Gln157Gln|647/1140|471/657|157/218||,T|synonymous_variant|LOW|METTL21A|METTL21A|transcript|NM_001127395.3|protein_coding|4/4|c.471G>A|p.Gln157Gln|817/1310|471/657|157/218||,T|synonymous_variant|LOW|METTL21A|METTL21A|transcript|NM_001330130.1|protein_coding|4/4|c.471G>A|p.Gln157Gln|614/1107|471/657|157/218||,T|synonymous_variant|LOW|METTL21A|METTL21A|transcript|NM_001330134.1|protein_coding|4/4|c.471G>A|p.Gln157Gln|877/1370|471/657|157/218||,T|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330136.1|protein_coding|3/3|c.259+8574G>A||||||,T|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001308021.2|protein_coding|3/4|c.259+8574G>A||||||,T|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330131.1|protein_coding|3/3|c.259+8574G>A||||||,T|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330135.1|protein_coding|3/3|c.259+8574G>A||||||,T|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330132.1|protein_coding|3/3|c.259+8574G>A||||||,T|intron_variant|MODIFIER|METTL21A|METTL21A|transcript|NM_001330133.1|protein_coding|3/3|c.259+8574G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4528;p3_1000G_AF=0.904153;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=21003;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208477956;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.954;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3826,580;ESP6500_AA_AGE=258.0+/-262.2;ESP6500_AA_GTC=1661,504,38;ESP6500_CDS_SIZES=NM_145280.4:657,NM_001127395.1:657;ESP6500_CG=-9.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=128;ESP6500_EA_AC=7027,1573;ESP6500_EA_AGE=295.4+/-302.4;ESP6500_EA_GTC=2857,1313,130;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145280.4:coding-synonymous,NM_001127395.1:coding-synonymous;ESP6500_GL=METTL21A;ESP6500_GRCh38_POSITION=2:207613232;ESP6500_GTC=4518,1817,168;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145280.4:c.471G>A,NM_001127395.1:c.471G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145280.4:p.(Q157),NM_001127395.1:p.(Q157);ESP6500_MAF=18.2907,13.1639,16.5539;ESP6500_TAC=10853,2153	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1870,165,0
chr2	207726978	rs2551957	A	G	19.81	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.505;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=4.027;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=-0.907;SOR=0.072;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2551957;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CCNYL1|CCNYL1|transcript|NM_001142300.1|protein_coding|3/7|c.330+102A>G||||||,G|intron_variant|MODIFIER|CCNYL1|CCNYL1|transcript|NM_152523.2|protein_coding|4/10|c.120+102A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1337;p3_1000G_AF=0.266973;p3_1000G_AFR_AF=0.3661;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=16004;p3_1000G_EAS_AF=0.3968;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208591702;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,3:14:48:48,0,360
chr2	207740768	rs2551963	G	T	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.674;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2551963;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CCNYL1|CCNYL1|transcript|NM_001142300.1|protein_coding|4/7|c.367-1455G>T||||||,T|intron_variant|MODIFIER|CCNYL1|CCNYL1|transcript|NM_152523.2|protein_coding|7/10|c.309+62G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1162;p3_1000G_AF=0.232029;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=15965;p3_1000G_EAS_AF=0.3968;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208605492;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=385,999;ESP6500_AA_GTC=52,281,359;ESP6500_CDS_SIZES=NM_152523.2:870,NM_001142300.1:927;ESP6500_CG=2.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=135,3041;ESP6500_EA_GTC=2,131,1455;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152523.2:intron,NM_001142300.1:intron;ESP6500_GL=CCNYL1;ESP6500_GRCh38_POSITION=2:207740768;ESP6500_GTC=54,412,1814;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_152523.2:c.309+62G>T,NM_001142300.1:c.367-1455G>T;ESP6500_MAF=4.2506,27.8179,11.4035;ESP6500_TAC=520,4040	GT:AD:DP:GQ:PL	0/1:6,6:12:99:159,0,140
chr2	207742151	rs1367640143;rs561667851	CA	C	31.25	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.25;ReadPosRankSum=0.524;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71896412;dbSNPBuildID=151,142;ANN=C|intron_variant|MODIFIER|CCNYL1|CCNYL1|transcript|NM_001142300.1|protein_coding|4/7|c.367-55delA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CCNYL1|CCNYL1|transcript|NM_152523.2|protein_coding|7/10|c.310-55delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,4:5:9:68,0,9
chr2	207768689	rs4675711	T	C	976.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4675711;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|FZD5|FZD5|transcript|NM_003468.3|protein_coding|2/2|c.51A>G|p.Leu17Leu|461/6564|51/1758|17/585||;p3_1000G_AA=C|||;p3_1000G_AC=4965;p3_1000G_AF=0.991414;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=12228;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208633413;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4272,110;ESP6500_AA_GTC=2081,110,0;ESP6500_CDS_SIZES=NM_003468.3:1758;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=14;ESP6500_EA_AC=8540,0;ESP6500_EA_GTC=4270,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003468.3:coding-synonymous;ESP6500_GL=FZD5;ESP6500_GRCh38_POSITION=2:207768689;ESP6500_GTC=6351,110,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003468.3:c.51A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003468.3:p.(L17);ESP6500_MAF=0.0,2.5103,0.8513;ESP6500_TAC=12812,110	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1005,90,0
chr2	207946373	rs10932215	C	T	646.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.29;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.052;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.198;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10932215;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|PLEKHM3|PLEKHM3|transcript|NM_001080475.2|protein_coding|4/8|c.1686G>A|p.Lys562Lys|2176/9807|1686/2286|562/761||;p3_1000G_AA=T|||;p3_1000G_AC=2720;p3_1000G_AF=0.543131;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=19110;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.6113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208811097;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2601,1183;ESP6500_AA_GTC=905,791,196;ESP6500_CDS_SIZES=NM_001080475.2:2286;ESP6500_CG=1.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=125;ESP6500_EA_AC=5191,3045;ESP6500_EA_GTC=1627,1937,554;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080475.2:coding-synonymous;ESP6500_GL=PLEKHM3;ESP6500_GRCh38_POSITION=2:207946373;ESP6500_GTC=2532,2728,750;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080475.2:c.1686G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080475.2:p.(K562);ESP6500_MAF=36.9718,31.2632,35.1747;ESP6500_TAC=7792,4228	GT:AD:DP:GQ:PL	0/1:29,27:56:99:675,0,730
chr2	207946560	rs10932216	C	T	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.388;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.33;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10932216;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PLEKHM3|PLEKHM3|transcript|NM_001080475.2|protein_coding|3/7|c.1547-48G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=782;p3_1000G_AF=0.15615;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=21753;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.2485;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208811284;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=238,3530;ESP6500_AA_GTC=7,224,1653;ESP6500_CDS_SIZES=NM_001080475.2:2286;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=70;ESP6500_EA_AC=2132,6080;ESP6500_EA_GTC=279,1574,2253;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080475.2:intron;ESP6500_GL=PLEKHM3;ESP6500_GRCh38_POSITION=2:207946560;ESP6500_GTC=286,1798,3906;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080475.2:c.1547-48G>A;ESP6500_MAF=25.962,6.3163,19.783;ESP6500_TAC=2370,9610	GT:AD:DP:GQ:PL	0/1:14,14:28:99:356,0,435
chr2	208112231	rs10932241	A	C	256.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=56.47;QD=25.76;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932241;dbSNPBuildID=120;ANN=C|intergenic_region|MODIFIER|PLEKHM3-LOC100507443|PLEKHM3-LOC100507443|intergenic_region|PLEKHM3-LOC100507443|||n.208112231A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2317;p3_1000G_AF=0.46266;p3_1000G_AFR_AF=0.3918;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=14863;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.3986;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208976955;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:285,21,0
chr2	208112245	rs11899959	C	A	323.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=54.69;QD=28.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11899959;dbSNPBuildID=120;ANN=A|intergenic_region|MODIFIER|PLEKHM3-LOC100507443|PLEKHM3-LOC100507443|intergenic_region|PLEKHM3-LOC100507443|||n.208112245C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2393;p3_1000G_AF=0.477835;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=14212;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208976969;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:208112245_C_A:352,24,0
chr2	208112248	rs71350713	G	C	323.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=53.88;QD=33.1;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs71350713;dbSNPBuildID=130;ANN=C|intergenic_region|MODIFIER|PLEKHM3-LOC100507443|PLEKHM3-LOC100507443|intergenic_region|PLEKHM3-LOC100507443|||n.208112248G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2393;p3_1000G_AF=0.477835;p3_1000G_AFR_AF=0.4531;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=14165;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208976972;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:24:1|1:208112245_C_A:352,24,0
chr2	208112251	rs11884219	T	C	325.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=52.35;QD=30.58;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11884219;dbSNPBuildID=120;ANN=C|intergenic_region|MODIFIER|PLEKHM3-LOC100507443|PLEKHM3-LOC100507443|intergenic_region|PLEKHM3-LOC100507443|||n.208112251T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2394;p3_1000G_AF=0.478035;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=14012;p3_1000G_EAS_AF=0.5367;p3_1000G_EUR_AF=0.3976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208976975;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:208112245_C_A:354,24,0
chr2	208112388	rs11900040	C	T	924.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=48.38;QD=28.9;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11900040;dbSNPBuildID=120;ANN=T|intergenic_region|MODIFIER|PLEKHM3-LOC100507443|PLEKHM3-LOC100507443|intergenic_region|PLEKHM3-LOC100507443|||n.208112388C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1270;p3_1000G_AF=0.253594;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.219;p3_1000G_AN=5008;p3_1000G_DP=13378;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.0616;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208977112;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:953,96,0
chr2	208124313	rs2242074;260062	A	G	1272.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=57.66;QD=30.3;SOR=1.005;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2242074;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|CRYGD|CRYGD|transcript|NM_006891.3|protein_coding|2/3|c.51T>C|p.Tyr17Tyr|167/707|51/525|17/174||,G|downstream_gene_variant|MODIFIER|CRYGC|CRYGC|transcript|NM_020989.3|protein_coding||c.*3890T>C|||||3824|,G|intron_variant|MODIFIER|LOC100507443|LOC100507443|transcript|NR_038437.1|pseudogene|1/2|n.97+5088A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3229;p3_1000G_AF=0.644768;p3_1000G_AFR_AF=0.739;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=15187;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.5338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=208989037;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2955,1319;ESP6500_AA_GTC=1105,745,287;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...100507443&amp%3Brs...2242074;ESP6500_CDS_SIZES=NM_006891.3:525;ESP6500_CG=-3.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=12;ESP6500_EA_AC=4354,4096;ESP6500_EA_GTC=1216,1922,1087;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006891.3:coding-synonymous;ESP6500_GL=CRYGD;ESP6500_GRCh38_POSITION=2:208124313;ESP6500_GTC=2321,2667,1374;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006891.3:c.51T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006891.3:p.(Y17);ESP6500_MAF=48.4734,30.861,42.5574;ESP6500_TAC=7309,5415;CLINVAR_ALLELEID=250514;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0000518,MedGen:C1962983|MedGen:CN169374;CLINVAR_CLNDN=Cataract|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.208124313A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27739;CLINVAR_GENEINFO=CRYGD:1421|LOC100507443:100507443;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2242074	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1301,126,0
chr2	208163147	rs796279	A	G	1069.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.04;SOR=2.019;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs796279;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding||c.*2660T>C|||||2200|,G|intron_variant|MODIFIER|CRYGA|CRYGA|transcript|NM_014617.3|protein_coding|2/2|c.252+57T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1254;p3_1000G_AF=0.250399;p3_1000G_AFR_AF=0.2564;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=17972;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.0755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209027871;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,30:30:90:1|1:208163142_C_A:1098,90,0
chr2	208163467	rs796280	C	T	1907.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=1;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs796280;dbSNPBuildID=86;ANN=T|downstream_gene_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding||c.*2340G>A|||||1880|,T|intron_variant|MODIFIER|CRYGA|CRYGA|transcript|NM_014617.3|protein_coding|1/2|c.10-21G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1473;p3_1000G_AF=0.294129;p3_1000G_AFR_AF=0.1846;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=19236;p3_1000G_EAS_AF=0.5258;p3_1000G_EUR_AF=0.1849;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209028191;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=809,3597;ESP6500_AA_AGE=324.8+/-298.8;ESP6500_AA_GTC=81,647,1475;ESP6500_CDS_SIZES=NM_014617.3:525;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=208;ESP6500_EA_AC=1442,7158;ESP6500_EA_AGE=278.2+/-293.3;ESP6500_EA_GTC=143,1156,3001;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014617.3:intron;ESP6500_GL=CRYGA;ESP6500_GRCh38_POSITION=2:208163467;ESP6500_GTC=224,1803,4476;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014617.3:c.10-21G>A;ESP6500_MAF=16.7674,18.3613,17.3074;ESP6500_TAC=2251,10755	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1936,195,0
chr2	208165854	rs796281	A	G	780.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs796281;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|CRYGA|CRYGA|transcript|NM_014617.3|protein_coding||c.-2298T>C|||||2281|,G|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|8/8|c.574-39T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1529;p3_1000G_AF=0.305312;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=18916;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209030578;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=858,2840;ESP6500_AA_GTC=105,648,1096;ESP6500_CDS_SIZES=NM_001099334.2:582;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=98;ESP6500_EA_AC=1373,6803;ESP6500_EA_GTC=138,1097,2853;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001099334.2:intron;ESP6500_GL=C2orf80;ESP6500_GRCh38_POSITION=2:208165854;ESP6500_GTC=243,1745,3949;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001099334.2:c.574-39T>C;ESP6500_MAF=16.7931,23.2017,18.789;ESP6500_TAC=2231,9643	GT:AD:DP:GQ:PL	1/1:0,21:21:63:809,63,0
chr2	208168373	rs13414543	A	G	203.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.47;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13414543;dbSNPBuildID=121;ANN=G|upstream_gene_variant|MODIFIER|CRYGA|CRYGA|transcript|NM_014617.3|protein_coding||c.-4817T>C|||||4800|,G|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|8/8|c.574-2558T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1995;p3_1000G_AF=0.398363;p3_1000G_AFR_AF=0.5068;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=12669;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209033097;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:232,24,0
chr2	208168449	rs7562540	A	G	139.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7562540;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|CRYGA|CRYGA|transcript|NM_014617.3|protein_coding||c.-4893T>C|||||4876|,G|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|8/8|c.573+2496T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4249;p3_1000G_AF=0.848442;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=11296;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.8847;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209033173;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:168,15,0
chr2	208170934	rs6748431	C	T	1139.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6748431;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|8/8|c.573+11G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4925;p3_1000G_AF=0.983427;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19140;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209035658;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3680,198;ESP6500_AA_GTC=1749,182,8;ESP6500_CDS_SIZES=NM_001099334.2:582;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=230;ESP6500_EA_AC=8302,0;ESP6500_EA_GTC=4151,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001099334.2:intron;ESP6500_GL=C2orf80;ESP6500_GRCh38_POSITION=2:208170934;ESP6500_GTC=5900,182,8;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001099334.2:c.573+11G>A;ESP6500_MAF=0.0,5.1057,1.6256;ESP6500_TAC=11982,198	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:208170930_C_T:1168,105,0
chr2	208171125	rs4292037	A	C	728.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.7;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4292037;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|7/8|c.455-62T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4342;p3_1000G_AF=0.867013;p3_1000G_AFR_AF=0.8298;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=17474;p3_1000G_EAS_AF=0.8581;p3_1000G_EUR_AF=0.9274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209035849;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:757,63,0
chr2	208171881	rs10932244	T	C	487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932244;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|7/8|c.454+107A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4291;p3_1000G_AF=0.856829;p3_1000G_AFR_AF=0.7943;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=19215;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.9274;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209036605;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:516,42,0
chr2	208171988	rs10804166	T	C	1036.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10804166;dbSNPBuildID=120;ANN=C|missense_variant&splice_region_variant|MODERATE|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|7/9|c.454A>G|p.Ser152Gly|626/1214|454/582|152/193||;p3_1000G_AA=T|||;p3_1000G_AC=4291;p3_1000G_AF=0.856829;p3_1000G_AFR_AF=0.7943;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=20312;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.9274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209036712;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.816;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3171,687;ESP6500_AA_GTC=1309,553,67;ESP6500_CDS_SIZES=NM_001099334.2:582;ESP6500_CG=1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=225;ESP6500_EA_AC=7628,646;ESP6500_EA_GTC=3512,604,21;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001099334.2:missense-near-splice;ESP6500_GL=C2orf80;ESP6500_GRCh38_POSITION=2:208171988;ESP6500_GS=56;ESP6500_GTC=4821,1157,88;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001099334.2:c.454A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001099334.2:p.(S152G);ESP6500_MAF=7.8076,17.8072,10.9875;ESP6500_PH=benign:0.002;ESP6500_TAC=10799,1333	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1065,99,0
chr2	208172054	rs6435421	A	G	699.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6435421;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|7/9|c.388T>C|p.Cys130Arg|560/1214|388/582|130/193||;p3_1000G_AA=G|||;p3_1000G_AC=4925;p3_1000G_AF=0.983427;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19807;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209036778;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3695,201;ESP6500_AA_GTC=1754,187,7;ESP6500_CDS_SIZES=NM_001099334.2:582;ESP6500_CG=4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=204;ESP6500_EA_AC=8312,0;ESP6500_EA_GTC=4156,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001099334.2:missense;ESP6500_GL=C2orf80;ESP6500_GRCh38_POSITION=2:208172054;ESP6500_GS=180;ESP6500_GTC=5910,187,7;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001099334.2:c.388T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001099334.2:p.(C130R);ESP6500_MAF=0.0,5.1591,1.6465;ESP6500_PH=benign:0.0;ESP6500_TAC=12007,201	GT:AD:DP:GQ:PL	1/1:0,23:23:69:728,69,0
chr2	208180933	rs10208685	T	C	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.03;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.191;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10208685;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|5/8|c.295-117A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2814;p3_1000G_AF=0.561901;p3_1000G_AFR_AF=0.4576;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=17435;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.332;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209045657;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:133,0,263
chr2	208181115	rs56342568	T	C	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.5;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.486;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56342568;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|5/8|c.294+103A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1997;p3_1000G_AF=0.398762;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=18598;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209045839;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:323,0,209
chr2	208185116	rs10804167	C	T	532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10804167;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|C2orf80|C2orf80|transcript|NM_001099334.2|protein_coding|2/8|c.42-84G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3306;p3_1000G_AF=0.660144;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=17466;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.7475;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209049840;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:561,51,0
chr2	208237181	rs57383668;rs796498057	GA	G	392.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.18;SOR=1.112;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57383668;dbSNPBuildID=130,146;ANN=G|intron_variant|MODIFIER|IDH1|IDH1|transcript|NM_001282386.1|protein_coding|9/9|c.1155-13delT||||||,G|intron_variant|MODIFIER|IDH1|IDH1|transcript|NM_001282387.1|protein_coding|9/9|c.1155-13delT||||||,G|intron_variant|MODIFIER|IDH1|IDH1|transcript|NM_005896.3|protein_coding|9/9|c.1155-13delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4921;p3_1000G_AF=0.982628;p3_1000G_AFR_AF=0.9387;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=21339;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209101905;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:430,45,0
chr2	208298832	rs7569723	C	T	725.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7569723;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|8/41|c.1050+53C>T||||||,T|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_001178000.1|protein_coding|8/11|c.1050+53C>T||||||,T|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_152671.3|protein_coding|6/9|c.759+53C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4565;p3_1000G_AF=0.911542;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=20054;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209163556;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:754,69,0
chr2	208304129	rs893256	C	T	284.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs893256;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|10/41|c.1321-42C>T||||||,T|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_001178000.1|protein_coding|10/11|c.1321-42C>T||||||,T|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_152671.3|protein_coding|8/9|c.1030-42C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4561;p3_1000G_AF=0.910743;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=18173;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209168853;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3538,868;ESP6500_AA_AGE=704.3+/-407.1;ESP6500_AA_GTC=1415,708,80;ESP6500_CDS_SIZES=NM_152671.3:1356,NM_015040.3:6297,NM_001178000.1:1647;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=48;ESP6500_EA_AC=8442,158;ESP6500_EA_AGE=805.6+/-407.3;ESP6500_EA_GTC=4143,156,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152671.3:intron,NM_015040.3:intron,NM_001178000.1:intron;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208304129;ESP6500_GTC=5558,864,81;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152671.3:c.1030-42C>T,NM_015040.3:c.1321-42C>T,NM_001178000.1:c.1321-42C>T;ESP6500_MAF=1.8372,19.7004,7.8887;ESP6500_TAC=11980,1026	GT:AD:DP:GQ:PL	1/1:0,9:9:27:313,27,0
chr2	208312083	rs12624141	T	G	274.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.98;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs374917327,rs12624141;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|12/41|c.1637-153T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4923;p3_1000G_AF=0.983027;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18470;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209176807;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:303,21,0
chr2	208315510	rs55976676;rs75428220	C	CTTTG	1696.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.63;SOR=3.202;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs55976676,rs75428220;dbSNPBuildID=131,137;ANN=CTTTG|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|15/41|c.2007+140_2007+143dupTGTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4567;p3_1000G_AF=0.911941;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=22009;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209180234;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1734,117,0
chr2	208320256	rs10932258;333897	G	A	294.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.56;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932258;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|17/42|c.2087G>A|p.Ser696Asn|2245/9901|2087/6297|696/2098||;p3_1000G_AA=A|||;p3_1000G_AC=4967;p3_1000G_AF=0.991813;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15656;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209184980;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4305,101;ESP6500_AA_AGE=78.3+/-116.7;ESP6500_AA_GTC=2104,97,2;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=90;ESP6500_EA_AC=8589,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4294,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015040.3:missense;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208320256;ESP6500_GS=46;ESP6500_GTC=6398,98,2;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.2087G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(S696N);ESP6500_MAF=0.0116,2.2923,0.7849;ESP6500_PH=benign:0.0;ESP6500_TAC=12894,102;CLINVAR_ALLELEID=284315;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208320256G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27721|UniProtKB_(protein):Q9Y2I7#VAR_063406;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10932258	GT:AD:DP:GQ:PL	1/1:0,12:12:36:323,36,0
chr2	208320275	rs10932259;333898	C	T	296.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.73;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932259;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|17/42|c.2106C>T|p.Pro702Pro|2264/9901|2106/6297|702/2098||;p3_1000G_AA=C|||;p3_1000G_AC=4565;p3_1000G_AF=0.911542;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=16025;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209184999;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3553,853;ESP6500_AA_AGE=730.2+/-410.1;ESP6500_AA_GTC=1428,697,78;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=100;ESP6500_EA_AC=8420,158;ESP6500_EA_AGE=803.2+/-407.3;ESP6500_EA_GTC=4132,156,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:coding-synonymous;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208320275;ESP6500_GTC=5560,853,79;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.2106C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(P702);ESP6500_MAF=1.8419,19.36,7.7865;ESP6500_TAC=11973,1011;CLINVAR_ALLELEID=285012;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208320275C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27728;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10932259	GT:AD:DP:GQ:PL	1/1:0,12:12:36:325,36,0
chr2	208325188	rs893255	A	G	854.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.19;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs893255;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|19/41|c.2459-82A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4564;p3_1000G_AF=0.911342;p3_1000G_AFR_AF=0.7882;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=19626;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209189912;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:883,75,0
chr2	208325606	rs2363468;333905	T	C	2398.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2363468;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|20/42|c.2795T>C|p.Leu932Ser|2953/9901|2795/6297|932/2098||;p3_1000G_AA=C|||;p3_1000G_AC=4566;p3_1000G_AF=0.911741;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=20793;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209190330;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3555,851;ESP6500_AA_AGE=332.8+/-302.6;ESP6500_AA_GTC=1428,699,76;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=5.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=63;ESP6500_EA_AC=8442,158;ESP6500_EA_AGE=75.1+/-137.7;ESP6500_EA_GTC=4143,156,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015040.3:missense;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208325606;ESP6500_GS=145;ESP6500_GTC=5571,855,77;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.2795T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(L932S);ESP6500_MAF=1.8372,19.3146,7.758;ESP6500_PH=benign:0.0;ESP6500_TAC=11997,1009;CLINVAR_ALLELEID=287364;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208325606T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27737|UniProtKB_(protein):Q9Y2I7#VAR_063407;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2363468	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2427,216,0
chr2	208325795	rs893254;333909	A	T	2582.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.01;SOR=0.762;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs893254;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|20/42|c.2984A>T|p.Gln995Leu|3142/9901|2984/6297|995/2098||;p3_1000G_AA=A|||;p3_1000G_AC=4565;p3_1000G_AF=0.911542;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=18526;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209190519;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3554,852;ESP6500_AA_AGE=729.6+/-410.1;ESP6500_AA_GTC=1428,698,77;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=4.2;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=65;ESP6500_EA_AC=8442,158;ESP6500_EA_AGE=808.4+/-407.2;ESP6500_EA_GTC=4143,156,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015040.3:missense;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208325795;ESP6500_GS=113;ESP6500_GTC=5571,854,78;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.2984A>T;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(Q995L);ESP6500_MAF=1.8372,19.3373,7.7656;ESP6500_PH=benign:0.011;ESP6500_TAC=11996,1010;CLINVAR_ALLELEID=287006;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208325795A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27744|UniProtKB_(protein):Q9Y2I7#VAR_063408;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=893254	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,58:58:99:1|1:208325795_A_T:2611,178,0
chr2	208325804	rs893253;333910	C	G	2535.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs893253;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|20/42|c.2993C>G|p.Thr998Ser|3151/9901|2993/6297|998/2098||;p3_1000G_AA=G|||;p3_1000G_AC=4568;p3_1000G_AF=0.912141;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=18770;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209190528;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3564,842;ESP6500_AA_AGE=320.4+/-296.6;ESP6500_AA_GTC=1437,690,76;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=68;ESP6500_EA_AC=8442,158;ESP6500_EA_AGE=74.5+/-137.1;ESP6500_EA_GTC=4143,156,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015040.3:missense;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208325804;ESP6500_GS=58;ESP6500_GTC=5580,846,77;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.2993C>G;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(T998S);ESP6500_MAF=1.8372,19.1103,7.6888;ESP6500_PH=benign:0.039;ESP6500_TAC=12006,1000;CLINVAR_ALLELEID=287007;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208325804C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27747|UniProtKB_(protein):Q9Y2I7#VAR_063409;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=893253	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,58:58:99:1|1:208325795_A_T:2564,175,0
chr2	208326358	rs1529979;333917	C	A	2410.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=0.718;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1529979;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|20/42|c.3547C>A|p.Gln1183Lys|3705/9901|3547/6297|1183/2098||;p3_1000G_AA=A|||;p3_1000G_AC=4565;p3_1000G_AF=0.911542;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=21661;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209191082;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3554,852;ESP6500_AA_AGE=335.5+/-303.9;ESP6500_AA_GTC=1427,700,76;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=98;ESP6500_EA_AC=8442,158;ESP6500_EA_AGE=75.4+/-138.0;ESP6500_EA_GTC=4143,156,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015040.3:missense;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208326358;ESP6500_GS=53;ESP6500_GTC=5570,856,77;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.3547C>A;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(Q1183K);ESP6500_MAF=1.8372,19.3373,7.7656;ESP6500_PH=benign:0.0;ESP6500_TAC=11996,1010;CLINVAR_ALLELEID=284327;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208326358C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27750|UniProtKB_(protein):Q9Y2I7#VAR_063410;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1529979	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2439,231,0
chr2	208326375	rs1529978;333918	T	C	2363.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=0.801;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1529978;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|20/42|c.3564T>C|p.Asn1188Asn|3722/9901|3564/6297|1188/2098||;p3_1000G_AA=C|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=22207;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209191099;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4337,69;ESP6500_AA_AGE=62.9+/-100.1;ESP6500_AA_GTC=2134,69,0;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=103;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:coding-synonymous;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208326375;ESP6500_GTC=6433,70,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.3564T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(N1188);ESP6500_MAF=0.0116,1.566,0.5382;ESP6500_TAC=12936,70;CLINVAR_ALLELEID=284328;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208326375T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27753;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1529978	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2392,228,0
chr2	208329972	rs1437414	G	C	822.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1437414;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|22/41|c.3791+59G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4568;p3_1000G_AF=0.912141;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=21420;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209194696;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1117,267;ESP6500_AA_GTC=449,219,24;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=72;ESP6500_EA_AC=3115,59;ESP6500_EA_GTC=1529,57,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:intron;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208329972;ESP6500_GTC=1978,276,25;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.3791+59G>C;ESP6500_MAF=1.8589,19.2919,7.1523;ESP6500_TAC=4232,326	GT:AD:DP:GQ:PL	1/1:0,25:25:74:851,74,0
chr2	208330767	rs112938452;rs56261751	G	GAGA	626.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=2.584;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs112938452,rs56261751;dbSNPBuildID=132,129;ANN=GAGA|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|23/41|c.3963+75_3963+76insAAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4564;p3_1000G_AF=0.911342;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=18917;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209195491;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:208330748_G_GT:664,48,0
chr2	208335221	rs2363469	A	G	487.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2363469;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|24/41|c.4143-85A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4565;p3_1000G_AF=0.911542;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=17807;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209199945;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:516,42,0
chr2	208335670	rs6718402	A	C	274.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.35;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6718402;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|25/41|c.4257-123A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4566;p3_1000G_AF=0.911741;p3_1000G_AFR_AF=0.789;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=14818;p3_1000G_EAS_AF=0.9405;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209200394;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:303,24,0
chr2	208337015	rs7596571	T	C	95.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7596571;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|28/41|c.4611+87T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4923;p3_1000G_AF=0.983027;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=15545;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209201739;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:123,12,0
chr2	208338398	rs4675756	C	G	140.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4675756;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|28/41|c.4612-110C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4966;p3_1000G_AF=0.991613;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=14549;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209203122;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:169,15,0
chr2	208339990	rs2289171	G	A	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.39;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=10.843;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.16;SOR=0.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289171;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|30/41|c.4811-21G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1564;p3_1000G_AF=0.3123;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=15587;p3_1000G_EAS_AF=0.3909;p3_1000G_EUR_AF=0.4205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209204714;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=532,3874;ESP6500_AA_AGE=212.2+/-232.1;ESP6500_AA_GTC=29,474,1700;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=3462,5136;ESP6500_EA_AGE=477.5+/-369.7;ESP6500_EA_GTC=718,2026,1555;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:intron;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208339990;ESP6500_GTC=747,2500,3255;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.4811-21G>A;ESP6500_MAF=40.2652,12.0744,30.7136;ESP6500_TAC=3994,9010	GT:AD:DP:GQ:PL	0/1:9,8:17:99:181,0,323
chr2	208345103	rs2304544;333928	G	A	979.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.78;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304544;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|32/41|c.5028-8G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4562;p3_1000G_AF=0.910942;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=17762;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209209827;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3546,860;ESP6500_AA_AGE=334.1+/-303.3;ESP6500_AA_GTC=1422,702,79;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=54;ESP6500_EA_AC=8441,159;ESP6500_EA_AGE=74.8+/-137.4;ESP6500_EA_GTC=4142,157,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:intron;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208345103;ESP6500_GTC=5564,859,80;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.5028-8G>A;ESP6500_MAF=1.8488,19.5188,7.8348;ESP6500_TAC=11987,1019;CLINVAR_ALLELEID=285022;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208345103G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27756;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2304544	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1008,112,0
chr2	208345273	rs2043718	C	T	143.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.78;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2043718;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|33/41|c.5111+79C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4967;p3_1000G_AF=0.991813;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15836;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209209997;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:172,15,0
chr2	208347983	rs2304545;333930	G	A	519.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.57;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2304545;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|35/42|c.5334G>A|p.Thr1778Thr|5492/9901|5334/6297|1778/2098||;p3_1000G_AA=G|||;p3_1000G_AC=3586;p3_1000G_AF=0.716054;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=19060;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.8658;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209212707;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1656,2750;ESP6500_AA_AGE=506.7+/-366.5;ESP6500_AA_GTC=297,1062,844;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=7228,1372;ESP6500_EA_AGE=754.4+/-407.5;ESP6500_EA_GTC=3032,1164,104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:coding-synonymous;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208347983;ESP6500_GTC=3329,2226,948;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.5334G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(T1778);ESP6500_MAF=15.9535,37.5851,31.6931;ESP6500_TAC=8884,4122;CLINVAR_ALLELEID=284331;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208347983G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27761;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2304545	GT:AD:DP:GQ:PL	1/1:0,17:17:51:548,51,0
chr2	208350046	rs2118297;333932	A	G	561.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.75;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2118297;dbSNPBuildID=96;ANN=G|synonymous_variant|LOW|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|36/42|c.5397A>G|p.Thr1799Thr|5555/9901|5397/6297|1799/2098||;p3_1000G_AA=A|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=13673;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209214770;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3547,859;ESP6500_AA_AGE=743.7+/-411.5;ESP6500_AA_GTC=1421,705,77;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=116;ESP6500_EA_AC=8440,158;ESP6500_EA_AGE=811.5+/-407.1;ESP6500_EA_GTC=4142,156,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:coding-synonymous;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208350046;ESP6500_GTC=5563,861,78;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.5397A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(T1799);ESP6500_MAF=1.8376,19.4961,7.8207;ESP6500_TAC=11987,1017;CLINVAR_ALLELEID=284336;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208350046A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27766;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2118297	GT:AD:DP:GQ:PL	1/1:0,21:21:63:590,63,0
chr2	208350724	rs994696	A	G	541.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.69;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs994696;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|36/41|c.5435-47A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=17271;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209215448;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3551,855;ESP6500_AA_AGE=715.4+/-408.5;ESP6500_AA_GTC=1426,699,78;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=44;ESP6500_EA_AC=8441,157;ESP6500_EA_AGE=804.0+/-407.3;ESP6500_EA_GTC=4143,155,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:intron;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208350724;ESP6500_GTC=5569,854,79;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.5435-47A>G;ESP6500_MAF=1.826,19.4054,7.7822;ESP6500_TAC=11992,1012	GT:AD:DP:GQ:PL	1/1:0,15:15:45:570,45,0
chr2	208350862	rs994697;333934	A	G	1185.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=0.843;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs994697;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|37/42|c.5526A>G|p.Glu1842Glu|5684/9901|5526/6297|1842/2098||,G|sequence_feature|LOW|PIKFYVE|PIKFYVE|miscellaneous-region:Catalytic|NM_015040.3|protein_coding|37/42|c.5526A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=16535;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209215586;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3548,858;ESP6500_AA_AGE=337.3+/-304.8;ESP6500_AA_GTC=1421,706,76;ESP6500_CDS_SIZES=NM_015040.3:6297;ESP6500_CG=-2.4;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=129;ESP6500_EA_AC=8442,158;ESP6500_EA_AGE=75.4+/-138.0;ESP6500_EA_GTC=4143,156,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015040.3:coding-synonymous;ESP6500_GL=PIKFYVE;ESP6500_GRCh38_POSITION=2:208350862;ESP6500_GTC=5564,862,77;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015040.3:c.5526A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015040.3:p.(E1842);ESP6500_MAF=1.8372,19.4734,7.8118;ESP6500_TAC=11990,1016;CLINVAR_ALLELEID=284342;CLINVAR_CLNDISDB=MedGen:C1562113,OMIM:121850,Orphanet:ORPHA98970,SNOMED_CT:417183007;CLINVAR_CLNDN=Fleck_corneal_dystrophy;CLINVAR_CLNHGVS=NC_000002.12:g.208350862A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27769;CLINVAR_GENEINFO=PIKFYVE:200576;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=994697	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1214,123,0
chr2	208354466	rs6435453	A	G	838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.55;SOR=3.014;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6435453;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PIKFYVE|PIKFYVE|transcript|NM_015040.3|protein_coding|40/41|c.6107-105A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4566;p3_1000G_AF=0.911741;p3_1000G_AFR_AF=0.7897;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=17013;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209219190;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:74:867,74,0
chr2	208450848	rs1370371	G	A	407.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.18;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1370371;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|PTH2R|PTH2R|transcript|NM_005048.3|protein_coding|8/12|c.914+39G>A||||||,A|intron_variant|MODIFIER|PTH2R|PTH2R|transcript|NM_001309516.1|protein_coding|8/12|c.581+39G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2868;p3_1000G_AF=0.572684;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=17521;p3_1000G_EAS_AF=0.8671;p3_1000G_EUR_AF=0.6571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209315573;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1177,3229;ESP6500_AA_AGE=415.9+/-337.4;ESP6500_AA_GTC=163,851,1189;ESP6500_CDS_SIZES=NM_005048.2:1653;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=68;ESP6500_EA_AC=5389,3211;ESP6500_EA_AGE=650.2+/-400.7;ESP6500_EA_GTC=1674,2041,585;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005048.2:intron;ESP6500_GL=PTH2R;ESP6500_GRCh38_POSITION=2:208450848;ESP6500_GTC=1837,2892,1774;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005048.2:c.914+39G>A;ESP6500_MAF=37.3372,26.7136,49.5156;ESP6500_TAC=6566,6440	GT:AD:DP:GQ:PL	1/1:0,15:15:45:436,45,0
chr2	208481219	rs34570534;rs560656749;rs564417942;rs796423605	CT	C	50.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.517;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.9;ReadPosRankSum=-1.949;SOR=0.551;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34570534;dbSNPBuildID=126,142,142,146;ANN=C|intron_variant|MODIFIER|PTH2R|PTH2R|transcript|NM_005048.3|protein_coding|10/12|c.1076+72delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PTH2R|PTH2R|transcript|NM_001309516.1|protein_coding|10/12|c.743+72delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:7,6:13:88:88,0,110
chr2	208488882	rs6726003	A	G	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.15;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.93;ReadPosRankSum=-1.056;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6726003;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PTH2R|PTH2R|transcript|NM_005048.3|protein_coding|10/12|c.1077-130A>G||||||,G|intron_variant|MODIFIER|PTH2R|PTH2R|transcript|NM_001309516.1|protein_coding|10/12|c.744-130A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2552;p3_1000G_AF=0.509585;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=16811;p3_1000G_EAS_AF=0.4792;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209353607;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,11:17:99:418,0,198
chr2	208488931	rs11335842;rs397746131;rs556088959	GT	G	410.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.121;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.164;SOR=0.435;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11335842;dbSNPBuildID=137,142,138;ANN=G|intron_variant|MODIFIER|PTH2R|PTH2R|transcript|NM_005048.3|protein_coding|10/12|c.1077-71delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|PTH2R|PTH2R|transcript|NM_001309516.1|protein_coding|10/12|c.744-71delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:14,19:33:99:448,0,303
chr2	208493302	rs3820900	C	T	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.546;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.147;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=1.04;SOR=0.489;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820900;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|PTH2R|PTH2R|transcript|NM_005048.3|protein_coding|13/13|c.1296C>T|p.Asn432Asn|1510/2714|1296/1653|432/550||,T|synonymous_variant|LOW|PTH2R|PTH2R|transcript|NM_001309516.1|protein_coding|13/13|c.963C>T|p.Asn321Asn|1614/2818|963/1320|321/439||;p3_1000G_AA=T|||;p3_1000G_AC=3711;p3_1000G_AF=0.741014;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=18798;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=209358027;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6953;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3807,599;ESP6500_AA_AGE=262.5+/-264.9;ESP6500_AA_GTC=1656,495,52;ESP6500_CDS_SIZES=NM_005048.2:1653;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=61;ESP6500_EA_AC=6718,1882;ESP6500_EA_AGE=334.7+/-321.1;ESP6500_EA_GTC=2632,1454,214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005048.2:coding-synonymous;ESP6500_GL=PTH2R;ESP6500_GRCh38_POSITION=2:208493302;ESP6500_GTC=4288,1949,266;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005048.2:c.1296C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005048.2:p.(N432);ESP6500_MAF=21.8837,13.5951,19.0758;ESP6500_TAC=10525,2481	GT:AD:DP:GQ:PL	0/1:31,18:49:99:412,0,947
chr2	209145341	rs7421261	C	T	439.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.699;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=-0.569;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7421261;dbSNPBuildID=116;ANN=T|intergenic_region|MODIFIER|LOC101927960-MAP2|LOC101927960-MAP2|intergenic_region|LOC101927960-MAP2|||n.209145341C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2490;p3_1000G_AF=0.497204;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=10528;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.5795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210010065;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,12:24:99:0|1:209145341_C_T:468,0,457
chr2	209145343	rs7423165	T	C	439.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.587;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=-0.645;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7423165;dbSNPBuildID=116;ANN=C|intergenic_region|MODIFIER|LOC101927960-MAP2|LOC101927960-MAP2|intergenic_region|LOC101927960-MAP2|||n.209145343T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2490;p3_1000G_AF=0.497204;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=10723;p3_1000G_EAS_AF=0.3829;p3_1000G_EUR_AF=0.5795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210010067;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,12:24:99:0|1:209145341_C_T:468,0,457
chr2	209145412	rs5017675	T	C	573.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5017675;dbSNPBuildID=119;ANN=C|intergenic_region|MODIFIER|LOC101927960-MAP2|LOC101927960-MAP2|intergenic_region|LOC101927960-MAP2|||n.209145412T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3837;p3_1000G_AF=0.766174;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=5231;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.7545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210010136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:602,57,0
chr2	209145479	rs113896177	A	G	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.67;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=1.957;MLEAC=1;MLEAF=0.5;MQ=52.72;MQRankSum=-3.053;QD=12.63;ReadPosRankSum=-1.381;SOR=1.08;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113896177;dbSNPBuildID=132;ANN=G|intergenic_region|MODIFIER|LOC101927960-MAP2|LOC101927960-MAP2|intergenic_region|LOC101927960-MAP2|||n.209145479A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=477;p3_1000G_AF=0.0952476;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=14882;p3_1000G_EAS_AF=0.1071;p3_1000G_EUR_AF=0.1362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210010203;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:243,0,239
chr2	209145517	rs111258352	G	C	234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.044;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.67;MQRankSum=-2.391;QD=15.65;ReadPosRankSum=0.221;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111258352;dbSNPBuildID=132;ANN=C|intergenic_region|MODIFIER|LOC101927960-MAP2|LOC101927960-MAP2|intergenic_region|LOC101927960-MAP2|||n.209145517G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=627;p3_1000G_AF=0.1252;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=15095;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.0974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210010241;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:263,0,139
chr2	209653061	rs2254169	C	T	195.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2254169;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_002374.3|protein_coding|3/14|c.-29-81C>T||||||,T|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_001039538.1|protein_coding|4/14|c.-29-81C>T||||||,T|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031845.2|protein_coding|3/11|c.-29-81C>T||||||,T|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031847.2|protein_coding|3/12|c.-29-81C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18993;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210517785;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:224,18,0
chr2	209705582	rs143089892	C	T	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.038;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=0.609;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs143089892;dbSNPBuildID=134;ANN=T|splice_region_variant&synonymous_variant|LOW|MAP2|MAP2|transcript|NM_002374.3|protein_coding|11/15|c.4587C>T|p.Asp1529Asp|4835/9445|4587/5484|1529/1827||,T|splice_region_variant&synonymous_variant|LOW|MAP2|MAP2|transcript|NM_001039538.1|protein_coding|10/15|c.690C>T|p.Asp230Asp|1141/5844|690/1680|230/559||,T|splice_region_variant&synonymous_variant|LOW|MAP2|MAP2|transcript|NM_031845.2|protein_coding|8/12|c.519C>T|p.Asp173Asp|767/5377|519/1416|173/471||,T|splice_region_variant&synonymous_variant|LOW|MAP2|MAP2|transcript|NM_031847.2|protein_coding|8/13|c.519C>T|p.Asp173Asp|767/5470|519/1509|173/502||;p3_1000G_AA=T|||;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14326;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210570306;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=5,4401;ESP6500_AA_AGE=825.7+/-416.5;ESP6500_AA_GTC=0,5,2198;ESP6500_CDS_SIZES=NM_031847.2:1509,NM_031845.2:1416,NM_002374.3:5484,NM_001039538.1:1680;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=83;ESP6500_EA_AC=0,8598;ESP6500_EA_GTC=0,0,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031847.2:coding-synonymous,NM_031845.2:coding-synonymous,NM_002374.3:coding-synonymous,NM_001039538.1:coding-synonymous;ESP6500_GL=MAP2;ESP6500_GRCh38_POSITION=2:209705582;ESP6500_GTC=0,5,6497;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_031847.2:c.519C>T,NM_031845.2:c.519C>T,NM_002374.3:c.4587C>T,NM_001039538.1:c.690C>T;ESP6500_HGVS_PROTEIN_VAR=NM_031847.2:p.(D173),NM_031845.2:p.(D173),NM_002374.3:p.(D1529),NM_001039538.1:p.(D230);ESP6500_MAF=0.0,0.1135,0.0384;ESP6500_TAC=5,12999	GT:AD:DP:GQ:PL	0/1:9,7:16:99:164,0,214
chr2	209729816	rs4673486	A	G	1025.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.19;SOR=1.536;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4673486;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_002374.3|protein_coding|13/14|c.5156-34A>G||||||,G|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_001039538.1|protein_coding|13/14|c.1352-34A>G||||||,G|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031845.2|protein_coding|10/11|c.1088-34A>G||||||,G|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031847.2|protein_coding|11/12|c.1181-34A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3706;p3_1000G_AF=0.740016;p3_1000G_AFR_AF=0.4115;p3_1000G_AMR_AF=0.902;p3_1000G_AN=5008;p3_1000G_DP=17810;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.8867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210594540;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2115,2291;ESP6500_AA_AGE=576.3+/-384.2;ESP6500_AA_GTC=522,1071,610;ESP6500_CDS_SIZES=NM_031847.2:1509,NM_031845.2:1416,NM_002374.3:5484,NM_001039538.1:1680;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=60;ESP6500_EA_AC=7680,920;ESP6500_EA_AGE=775.4+/-407.7;ESP6500_EA_GTC=3431,818,51;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031847.2:intron,NM_031845.2:intron,NM_002374.3:intron,NM_001039538.1:intron;ESP6500_GL=MAP2;ESP6500_GRCh38_POSITION=2:209729816;ESP6500_GTC=3953,1889,661;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031847.2:c.1181-34A>G,NM_031845.2:c.1088-34A>G,NM_002374.3:c.5156-34A>G,NM_001039538.1:c.1352-34A>G;ESP6500_MAF=10.6977,48.0027,24.6886;ESP6500_TAC=9795,3211	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1054,90,0
chr2	209729993	rs11389149	C	CT	844.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=0.997;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11389149;dbSNPBuildID=132;ANN=CT|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_002374.3|protein_coding|14/14|c.5268+36dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_001039538.1|protein_coding|14/14|c.1464+36dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031845.2|protein_coding|11/11|c.1200+36dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031847.2|protein_coding|12/12|c.1293+36dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=?|TTTTT|TTTTTT|unsure;p3_1000G_AC=3721;p3_1000G_AF=0.743011;p3_1000G_AFR_AF=0.4221;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=19862;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.8867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210594717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,28:28:84:882,84,0
chr2	209730044	rs7594601	T	C	1396.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7594601;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_002374.3|protein_coding|14/14|c.5268+82T>C||||||,C|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_001039538.1|protein_coding|14/14|c.1464+82T>C||||||,C|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031845.2|protein_coding|11/11|c.1200+82T>C||||||,C|intron_variant|MODIFIER|MAP2|MAP2|transcript|NM_031847.2|protein_coding|12/12|c.1293+82T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4049;p3_1000G_AF=0.808506;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.9222;p3_1000G_AN=5008;p3_1000G_DP=19497;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.9225;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210594768;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.862;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1425,114,0
chr2	209817901	rs369081251	A	G	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.565;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.26;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369081251;dbSNPBuildID=138;ANN=G|missense_variant|MODERATE|UNC80|UNC80|transcript|NM_032504.1|protein_coding|11/64|c.1642A>G|p.Ser548Gly|1722/13562|1642/9777|548/3258||,G|missense_variant|MODERATE|UNC80|UNC80|transcript|NM_182587.3|protein_coding|11/63|c.1642A>G|p.Ser548Gly|1722/13490|1642/9705|548/3234||;p3_1000G_AA=A|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14417;p3_1000G_EAS_AF=0.0099;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210682625;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,18:42:99:451,0,614
chr2	209880957	rs2370838	C	A	2601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=88;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.57;SOR=1.055;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2370838;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|UNC80|UNC80|transcript|NM_032504.1|protein_coding|24/63|c.3983-4C>A||||||,A|splice_region_variant&intron_variant|LOW|UNC80|UNC80|transcript|NM_182587.3|protein_coding|24/62|c.3968-4C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4911;p3_1000G_AF=0.980631;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=20048;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210745681;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9642;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1351,33;ESP6500_AA_GTC=659,33,0;ESP6500_CDS_SIZES=NM_182587.3:9705,NM_032504.1:9777;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=107;ESP6500_EA_AC=3133,49;ESP6500_EA_GTC=1542,49,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182587.3:intron,NM_032504.1:intron;ESP6500_GL=UNC80;ESP6500_GRCh38_POSITION=2:209880957;ESP6500_GTC=2201,82,0;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_182587.3:c.3968-4C>A,NM_032504.1:c.3983-4C>A;ESP6500_MAF=1.5399,2.3844,1.7959;ESP6500_TAC=4484,82	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2630,264,0
chr2	209921413	rs9288415	G	A	327.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.31;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9288415;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|UNC80|UNC80|transcript|NM_032504.1|protein_coding|32/63|c.5146-87G>A||||||,A|intron_variant|MODIFIER|UNC80|UNC80|transcript|NM_182587.3|protein_coding|32/62|c.5131-87G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5002;p3_1000G_AF=0.998802;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18750;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210786137;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:356,36,0
chr2	209982143	rs2723222	A	G	707.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.53;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=-0.744;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2723222;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|UNC80|UNC80|transcript|NM_032504.1|protein_coding|58/63|c.8921-36A>G||||||,G|intron_variant|MODIFIER|UNC80|UNC80|transcript|NM_182587.3|protein_coding|58/62|c.8906-36A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2283;p3_1000G_AF=0.455871;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=18934;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.5169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210846867;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=435,949;ESP6500_AA_GTC=59,317,316;ESP6500_CDS_SIZES=NM_182587.3:9705,NM_032504.1:9777;ESP6500_CG=-8.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=110;ESP6500_EA_AC=1599,1583;ESP6500_EA_GTC=406,787,398;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182587.3:intron,NM_032504.1:intron;ESP6500_GL=UNC80;ESP6500_GRCh38_POSITION=2:209982143;ESP6500_GTC=465,1104,714;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182587.3:c.8906-36A>G,NM_032504.1:c.8921-36A>G;ESP6500_MAF=49.7486,31.4306,44.5466;ESP6500_TAC=2034,2532	GT:AD:DP:GQ:PL	0/1:13,26:39:99:736,0,266
chr2	209992180	.	A	G	478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-1.18;SOR=0.664;SNP;HET;VARTYPE=SNP;ANN=G|missense_variant|MODERATE|UNC80|UNC80|transcript|NM_032504.1|protein_coding|61/64|c.9131A>G|p.Gln3044Arg|9211/13562|9131/9777|3044/3258||,G|missense_variant|MODERATE|UNC80|UNC80|transcript|NM_182587.3|protein_coding|60/63|c.9059A>G|p.Gln3020Arg|9139/13490|9059/9705|3020/3234||	GT:AD:DP:GQ:PL	0/1:30,19:49:99:507,0,803
chr2	210009522	rs3738934	T	C	229.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3738934;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318926.1|protein_coding|1/6|c.123-135T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278282.1|protein_coding|2/6|c.-3+6054T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278283.1|protein_coding|2/7|c.-82-135T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278285.1|protein_coding|1/4|c.123-135T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278286.1|protein_coding|2/5|c.-3+6065T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278288.1|protein_coding|1/4|c.-2-6451T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278289.1|protein_coding|1/6|c.123-135T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318927.1|protein_coding|1/6|c.123-135T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318928.1|protein_coding|1/6|c.123-135T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318929.1|protein_coding|1/5|c.123-135T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318930.1|protein_coding|1/5|c.-82-135T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318931.1|protein_coding|2/5|c.-3+6054T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_006916.2|protein_coding|1/5|c.-2-6451T>C||||||,C|intron_variant|MODIFIER|RPE|RPE|transcript|NM_199229.2|protein_coding|1/5|c.123-135T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1113;p3_1000G_AF=0.222244;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=18642;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210874246;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:258,21,0
chr2	210016169	rs7570090	C	T	611.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.204;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.672;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.262;SOR=1.296;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7570090;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318926.1|protein_coding|3/6|c.343-35C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278282.1|protein_coding|3/6|c.139-35C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278283.1|protein_coding|4/7|c.139-35C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278285.1|protein_coding|3/4|c.342+57C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278286.1|protein_coding|3/5|c.138+57C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278288.1|protein_coding|2/4|c.138+57C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278289.1|protein_coding|3/6|c.342+57C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318927.1|protein_coding|3/6|c.342+57C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318928.1|protein_coding|3/6|c.343-35C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318929.1|protein_coding|3/5|c.342+57C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318930.1|protein_coding|3/5|c.138+57C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318931.1|protein_coding|3/5|c.138+57C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_006916.2|protein_coding|2/5|c.139-35C>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_199229.2|protein_coding|3/5|c.342+57C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2036;p3_1000G_AF=0.40655;p3_1000G_AFR_AF=0.3434;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=18501;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210880893;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1661,2745;ESP6500_AA_AGE=459.4+/-352.3;ESP6500_AA_GTC=319,1023,861;ESP6500_CDS_SIZES=NM_199229.1:687,NM_006916.1:537;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=72;ESP6500_EA_AC=3944,4654;ESP6500_EA_AGE=536.4+/-383.0;ESP6500_EA_GTC=886,2172,1241;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199229.1:intron,NM_006916.1:intron;ESP6500_GL=RPE;ESP6500_GRCh38_POSITION=2:210016169;ESP6500_GTC=1205,3195,2102;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_199229.1:c.342+57C>T,NM_006916.1:c.139-35C>T;ESP6500_MAF=45.8711,37.6986,43.1021;ESP6500_TAC=5605,7399	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,23:44:99:0|1:210016169_C_T:640,0,568
chr2	210017447	rs2075116	A	T	95.41	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.674;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2075116;dbSNPBuildID=96;ANN=T|downstream_gene_variant|MODIFIER|KANSL1L|KANSL1L|transcript|NM_152519.3|protein_coding||c.*5502T>A|||||3974|,T|downstream_gene_variant|MODIFIER|KANSL1L|KANSL1L|transcript|NM_001307976.1|protein_coding||c.*5502T>A|||||3974|,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318926.1|protein_coding|5/6|c.532-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278282.1|protein_coding|5/6|c.328-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278283.1|protein_coding|6/7|c.328-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278285.1|protein_coding|4/4|c.477+806A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278286.1|protein_coding|4/5|c.274-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278288.1|protein_coding|3/4|c.274-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278289.1|protein_coding|4/6|c.478-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318927.1|protein_coding|4/6|c.478-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318928.1|protein_coding|5/6|c.427-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318929.1|protein_coding|4/5|c.478-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318930.1|protein_coding|4/5|c.274-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318931.1|protein_coding|4/5|c.274-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_006916.2|protein_coding|4/5|c.328-26A>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_199229.2|protein_coding|4/5|c.478-26A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1910;p3_1000G_AF=0.38139;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=13679;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.4821;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210882171;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=631,3775;ESP6500_AA_AGE=271.3+/-270.1;ESP6500_AA_GTC=37,557,1609;ESP6500_CDS_SIZES=NM_199229.1:687,NM_006916.1:537;ESP6500_CG=3.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=73;ESP6500_EA_AC=3871,4729;ESP6500_EA_AGE=543.0+/-384.3;ESP6500_EA_GTC=866,2139,1295;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_199229.1:intron,NM_006916.1:intron;ESP6500_GL=RPE;ESP6500_GRCh38_POSITION=2:210017447;ESP6500_GTC=903,2696,2904;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_199229.1:c.478-26A>T,NM_006916.1:c.328-26A>T;ESP6500_MAF=45.0116,14.3214,34.6148;ESP6500_TAC=4502,8504	GT:AD:DP:GQ:PL	1/1:1,5:6:8:123,8,0
chr2	210017732	rs2243769	G	T	129.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2243769;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|KANSL1L|KANSL1L|transcript|NM_152519.3|protein_coding||c.*5217C>A|||||3689|,T|downstream_gene_variant|MODIFIER|KANSL1L|KANSL1L|transcript|NM_001307976.1|protein_coding||c.*5217C>A|||||3689|,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318926.1|protein_coding|6/6|c.618+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278282.1|protein_coding|6/6|c.414+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278283.1|protein_coding|7/7|c.414+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278285.1|protein_coding|4/4|c.477+1091G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278286.1|protein_coding|5/5|c.360+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278288.1|protein_coding|4/4|c.360+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001278289.1|protein_coding|5/6|c.564+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318927.1|protein_coding|5/6|c.565-58G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318928.1|protein_coding|6/6|c.513+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318929.1|protein_coding|5/5|c.564+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318930.1|protein_coding|5/5|c.360+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_001318931.1|protein_coding|5/5|c.360+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_006916.2|protein_coding|5/5|c.414+173G>T||||||,T|intron_variant|MODIFIER|RPE|RPE|transcript|NM_199229.2|protein_coding|5/5|c.564+173G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4887;p3_1000G_AF=0.975839;p3_1000G_AFR_AF=0.913;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=14722;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210882456;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:157,12,0
chr2	210025035	rs6435550	A	G	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.8;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-0.851;SOR=0.298;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6435550;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|LOC101928020|LOC101928020|transcript|NR_110291.1|pseudogene||n.-4887A>G|||||4887|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001318926.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001278282.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001278283.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001278285.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001278286.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001278288.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001278289.1|protein_coding||c.*6817A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001318927.1|protein_coding||c.*5351A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001318928.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001318929.1|protein_coding||c.*5351A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001318930.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_001318931.1|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_006916.2|protein_coding||c.*5244A>G|||||2775|,G|downstream_gene_variant|MODIFIER|RPE|RPE|transcript|NM_199229.2|protein_coding||c.*5244A>G|||||2775|,G|intron_variant|MODIFIER|KANSL1L|KANSL1L|transcript|NM_152519.3|protein_coding|13/14|c.2564+69T>C||||||,G|intron_variant|MODIFIER|KANSL1L|KANSL1L|transcript|NM_001307976.1|protein_coding|12/13|c.2438+69T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2095;p3_1000G_AF=0.418331;p3_1000G_AFR_AF=0.3638;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=15907;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.4414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210889759;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,16:25:99:0|1:210025035_A_G:505,0,224
chr2	210029659	rs3835772	ATTG	A	40.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.38;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3835772;dbSNPBuildID=132;ANN=A|upstream_gene_variant|MODIFIER|LOC101928020|LOC101928020|transcript|NR_110291.1|pseudogene||n.-262_-260delTTG|||||262|,A|intron_variant|MODIFIER|KANSL1L|KANSL1L|transcript|NM_152519.3|protein_coding|10/14|c.2271+141_2271+143delCAA||||||,A|intron_variant|MODIFIER|KANSL1L|KANSL1L|transcript|NM_001307976.1|protein_coding|9/13|c.2145+141_2145+143delCAA||||||;p3_1000G_AC=846;p3_1000G_AF=0.16893;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=17410;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.1879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=210894383;p3_1000G_GRCH37_REF=ATTG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,2:4:78:78,0,98
chr2	210195326	rs2286963;1620	T	G	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.211;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.468;SOR=0.509;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2286963;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|ACADL|ACADL|transcript|NM_001608.3|protein_coding|9/11|c.997A>C|p.Lys333Gln|1225/2490|997/1293|333/430||;p3_1000G_AA=T|||;p3_1000G_AC=1057;p3_1000G_AF=0.211062;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=18082;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.3131;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211060050;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=661,3745;ESP6500_AA_AGE=280.5+/-275.4;ESP6500_AA_GTC=53,555,1595;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...33&amp%3Brs...2286963|http://omim.org/entry/609576#0001|http://www.ncbi.nlm.nih.gov/pubmed?term...20037589;ESP6500_CDS_SIZES=NM_001608.3:1293;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=88;ESP6500_EA_AC=2936,5664;ESP6500_EA_AGE=456.2+/-364.0;ESP6500_EA_GTC=488,1960,1852;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001608.3:missense;ESP6500_GL=ACADL;ESP6500_GRCh38_POSITION=2:210195326;ESP6500_GS=53;ESP6500_GTC=541,2515,3447;ESP6500_GTS=GG,GT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20037589;ESP6500_HGVS_CDNA_VAR=NM_001608.3:c.997A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001608.3:p.(K333Q);ESP6500_MAF=34.1395,15.0023,27.6565;ESP6500_PH=probably-damaging:0.978;ESP6500_TAC=3597,9409;CLINVAR_AF_ESP=0.2766;CLINVAR_AF_EXAC=0.30109;CLINVAR_AF_TGP=0.2111;CLINVAR_ALLELEID=16659;CLINVAR_CLNDISDB=MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED_CT:237996001,SNOMED_CT:237997005|MedGen:CN517202;CLINVAR_CLNDN=Very_long_chain_acyl-CoA_dehydrogenase_deficiency|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.210195326T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27798|OMIM_Allelic_Variant:609576.0001|UniProtKB_(protein):P28330#VAR_000329;CLINVAR_GENEINFO=ACADL:33;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2286963	GT:AD:DP:GQ:PL	0/1:13,18:31:99:446,0,290
chr2	210204714	rs263677	G	A	423.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.6;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs263677;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|ACADL|ACADL|transcript|NM_001608.3|protein_coding|6/10|c.769-32C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4886;p3_1000G_AF=0.975639;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=16963;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211069438;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4158,246;ESP6500_AA_AGE=140.4+/-175.9;ESP6500_AA_GTC=1961,236,5;ESP6500_CDS_SIZES=NM_001608.3:1293;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=63;ESP6500_EA_AC=8597,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4298,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001608.3:intron;ESP6500_GL=ACADL;ESP6500_GRCh38_POSITION=2:210204714;ESP6500_GTC=6259,237,5;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001608.3:c.769-32C>T;ESP6500_MAF=0.0116,5.5858,1.8997;ESP6500_TAC=12755,247	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:39:1|1:210204714_G_A:452,39,0
chr2	210210185	rs3764913;333997	T	C	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-2.232;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3764913;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ACADL|ACADL|transcript|NM_001608.3|protein_coding|5/10|c.603+11A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=15424;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.3171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211074909;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=661,3745;ESP6500_AA_AGE=280.8+/-275.6;ESP6500_AA_GTC=53,555,1595;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...23281178;ESP6500_CDS_SIZES=NM_001608.3:1293;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=164;ESP6500_EA_AC=2945,5655;ESP6500_EA_AGE=458.3+/-364.6;ESP6500_EA_GTC=493,1959,1848;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001608.3:intron;ESP6500_GL=ACADL;ESP6500_GRCh38_POSITION=2:210210185;ESP6500_GTC=546,2514,3443;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23281178;ESP6500_HGVS_CDNA_VAR=NM_001608.3:c.603+11A>G;ESP6500_MAF=34.2442,15.0023,27.7257;ESP6500_TAC=3606,9400;CLINVAR_AF_ESP=0.2773;CLINVAR_AF_EXAC=0.30182;CLINVAR_AF_TGP=0.2117;CLINVAR_ALLELEID=287296;CLINVAR_CLNDISDB=MedGen:C3887523,OMIM:201475,Orphanet:ORPHA26793,SNOMED_CT:237996001,SNOMED_CT:237997005;CLINVAR_CLNDN=Very_long_chain_acyl-CoA_dehydrogenase_deficiency;CLINVAR_CLNHGVS=NC_000002.12:g.210210185T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27816;CLINVAR_GENEINFO=ACADL:33;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3764913	GT:AD:DP:GQ:PL	0/1:8,7:15:99:211,0,212
chr2	210225204	rs187237868	G	A	368.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.83;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=0.252;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187237868;dbSNPBuildID=135;ANN=A|synonymous_variant|LOW|ACADL|ACADL|transcript|NM_001608.3|protein_coding|1/11|c.60C>T|p.Arg20Arg|288/2490|60/1293|20/430||;p3_1000G_AA=G|||;p3_1000G_AC=13;p3_1000G_AF=0.00259585;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=11154;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211089928;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,15:24:99:397,0,277
chr2	210233389	rs263672	C	T	1226.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs263672;dbSNPBuildID=79;ANN=T|intergenic_region|MODIFIER|ACADL-MYL1|ACADL-MYL1|intergenic_region|ACADL-MYL1|||n.210233389C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4659;p3_1000G_AF=0.930312;p3_1000G_AFR_AF=0.7504;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=19029;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211098113;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1255,117,0
chr2	210298339	rs796844841	TAC	T	614.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.35;SOR=4.514;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs150329321;dbSNPBuildID=146;ANN=T|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079420.2|protein_coding|3/6|c.304+79_304+80delGT||||||,T|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079422.2|protein_coding|3/6|c.172+79_172+80delGT||||||	GT:AD:DP:GQ:PL	1/0:0,12:12:99:652,290,285
chr2	210298339	.	TAC	TACACACACAC	614.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=32.35;SOR=4.514;INS;HET;VARTYPE=INS;ANN=TACACACACAC|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079420.2|protein_coding|3/6|c.304+71_304+78dupGTGTGTGT||||||,TACACACACAC|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079422.2|protein_coding|3/6|c.172+71_172+78dupGTGTGTGT||||||	GT:AD:DP:GQ:PL	0/1:0,7:7:99:652,396,480
chr2	210302408	rs2292300	A	T	449.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.104;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.404;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292300;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079420.2|protein_coding|2/6|c.160+80T>A||||||,T|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079422.2|protein_coding|2/6|c.28+360T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2187;p3_1000G_AF=0.436701;p3_1000G_AFR_AF=0.3903;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17732;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.4056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211167132;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=546,838;ESP6500_AA_GTC=114,318,260;ESP6500_CDS_SIZES=NM_079422.2:453,NM_079420.2:585;ESP6500_CG=1.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=147;ESP6500_EA_AC=1199,1983;ESP6500_EA_GTC=223,753,615;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_079422.2:intron,NM_079420.2:intron;ESP6500_GL=MYL1;ESP6500_GRCh38_POSITION=2:210302408;ESP6500_GTC=337,1071,875;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_079422.2:c.28+360T>A,NM_079420.2:c.160+80T>A;ESP6500_MAF=37.6807,39.4509,38.2173;ESP6500_TAC=1745,2821	GT:AD:DP:GQ:PL	0/1:10,17:27:99:478,0,227
chr2	210303457	rs35179660	T	TC	207.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.881;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-0.028;SOR=1.23;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35179660;dbSNPBuildID=126;ANN=TC|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079420.2|protein_coding|1/6|c.133-943_133-942insG||||||,TC|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079422.2|protein_coding|1/6|c.3+84_3+85insG||||||;p3_1000G_AA=C|-|C|deletion;p3_1000G_AC=2190;p3_1000G_AF=0.4373;p3_1000G_AFR_AF=0.3918;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19049;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.4056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211168181;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=INDEL;ESP6500_AA_AC=1694,2570;ESP6500_AA_GTC=355,984,793;ESP6500_CDS_SIZES=NM_079422.2:453,NM_079420.2:585;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=31;ESP6500_EA_AC=3127,5127;ESP6500_EA_GTC=587,1953,1587;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_079422.2:intron,NM_079420.2:intron;ESP6500_GL=MYL1;ESP6500_GRCh38_POSITION=2:210303457;ESP6500_GTC=942,2937,2380;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_079422.2:c.3+84_3+85insG,NM_079420.2:c.133-943_133-942insG;ESP6500_MAF=37.8847,39.728,38.5125;ESP6500_TAC=4821,7697	GT:AD:DP:GQ:PL	0/1:18,8:26:99:245,0,616
chr2	210303622	rs12469767	A	C	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.331;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.273;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12469767;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|MYL1|MYL1|transcript|NM_079422.2|protein_coding||c.-78T>G|||||7|,C|intron_variant|MODIFIER|MYL1|MYL1|transcript|NM_079420.2|protein_coding|1/6|c.133-1107T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2713;p3_1000G_AF=0.541733;p3_1000G_AFR_AF=0.618;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=15829;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211168346;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=791,593;ESP6500_AA_GTC=226,339,127;ESP6500_CDS_SIZES=NM_079420.2:585;ESP6500_CG=4.4;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=1527,1655;ESP6500_EA_GTC=359,809,423;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_079420.2:intron;ESP6500_GL=MYL1;ESP6500_GRCh38_POSITION=2:210303622;ESP6500_GTC=585,1148,550;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_079420.2:c.133-1107T>G;ESP6500_MAF=47.9887,42.8468,49.2335;ESP6500_TAC=2318,2248	GT:AD:DP:GQ:PL	0/1:8,8:16:99:205,0,222
chr2	210437961	rs13420747	T	C	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=-0.842;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13420747;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110604.1|pseudogene|2/5|n.211-4581T>C||||||,C|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136574.1|protein_coding|6/9|c.691-89A>G||||||,C|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110605.1|pseudogene|2/5|n.211-4581T>C||||||,C|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110606.1|pseudogene|2/4|n.210+8510T>C||||||,C|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_006055.2|protein_coding|6/9|c.691-89A>G||||||,C|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136575.1|protein_coding|6/9|c.691-89A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=711;p3_1000G_AF=0.141973;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.1513;p3_1000G_AN=5008;p3_1000G_DP=15488;p3_1000G_EAS_AF=0.244;p3_1000G_EUR_AF=0.1203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211302685;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,127
chr2	210455100	rs2287432	T	C	1574.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.51;SOR=2.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2287432;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|LANCL1|LANCL1|transcript|NM_001136574.1|protein_coding|4/9|c.407+7A>G||||||,C|splice_region_variant&intron_variant|LOW|LANCL1|LANCL1|transcript|NM_006055.2|protein_coding|4/9|c.407+7A>G||||||,C|splice_region_variant&intron_variant|LOW|LANCL1|LANCL1|transcript|NM_001136575.1|protein_coding|4/9|c.407+7A>G||||||,C|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110604.1|pseudogene|3/5|n.369-5375T>C||||||,C|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110605.1|pseudogene|3/5|n.369-5375T>C||||||,C|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110606.1|pseudogene|2/4|n.211-5375T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3567;p3_1000G_AF=0.71226;p3_1000G_AFR_AF=0.7776;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=20293;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.5437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211319824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3354,1052;ESP6500_AA_AGE=384.2+/-325.2;ESP6500_AA_GTC=1276,802,125;ESP6500_CDS_SIZES=NM_006055.2:1200,NM_001136575.1:1200,NM_001136574.1:1200;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=4733,3867;ESP6500_EA_AGE=542.3+/-384.2;ESP6500_EA_GTC=1278,2177,845;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006055.2:intron,NM_001136575.1:intron,NM_001136574.1:intron;ESP6500_GL=LANCL1;ESP6500_GRCh38_POSITION=2:210455100;ESP6500_GTC=2554,2979,970;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006055.2:c.407+7A>G,NM_001136575.1:c.407+7A>G,NM_001136574.1:c.407+7A>G;ESP6500_MAF=44.9651,23.8765,37.821;ESP6500_TAC=8087,4919	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1603,140,0
chr2	210455317	rs59908560;rs71395583	G	GAA	1287.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.828;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=3.056;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=33.02;ReadPosRankSum=1.33;SOR=1.981;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59908560,rs71395583,rs10691255;dbSNPBuildID=130,129;ANN=GAA|splice_region_variant&intron_variant|LOW|LANCL1|LANCL1|transcript|NM_001136574.1|protein_coding|3/9|c.200-5_200-4dupTT||||||,GAA|splice_region_variant&intron_variant|LOW|LANCL1|LANCL1|transcript|NM_006055.2|protein_coding|3/9|c.200-5_200-4dupTT||||||,GAA|splice_region_variant&intron_variant|LOW|LANCL1|LANCL1|transcript|NM_001136575.1|protein_coding|3/9|c.200-5_200-4dupTT||||||,GAA|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110604.1|pseudogene|3/5|n.369-5147_369-5146dupAA||||||INFO_REALIGN_3_PRIME,GAA|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110605.1|pseudogene|3/5|n.369-5147_369-5146dupAA||||||INFO_REALIGN_3_PRIME,GAA|intron_variant|MODIFIER|LANCL1-AS1|LANCL1-AS1|transcript|NR_110606.1|pseudogene|2/4|n.211-5147_211-5146dupAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2532;p3_1000G_AF=0.505591;p3_1000G_AFR_AF=0.4826;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=20856;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211320041;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:2,37:39:54:1325,54,0
chr2	210476213	rs3214410;rs398091034	A	AT	222.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.399;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.678;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.302;SOR=1.981;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3214410;dbSNPBuildID=106,138;ANN=AT|upstream_gene_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding||c.-1551_-1550insT|||||1468|,AT|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136574.1|protein_coding|2/9|c.81+102dupA||||||,AT|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_006055.2|protein_coding|2/9|c.81+102dupA||||||,AT|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136575.1|protein_coding|2/9|c.81+102dupA||||||;p3_1000G_AA=TTTTTTTT|TTTTTTT|TTTTTTTT|deletion;p3_1000G_AC=1544;p3_1000G_AF=0.308307;p3_1000G_AFR_AF=0.236;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=16606;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211340937;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:14,11:25:99:260,0,352
chr2	210476432	rs2287418	C	G	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.037;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.141;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=0.498;SOR=1.685;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287418;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding||c.-1332C>G|||||1250|,G|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136574.1|protein_coding|1/9|c.-16-20G>C||||||,G|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_006055.2|protein_coding|1/9|c.-16-20G>C||||||,G|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136575.1|protein_coding|1/9|c.-16-20G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2409;p3_1000G_AF=0.48103;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=14781;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.4871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211341156;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1178,3228;ESP6500_AA_AGE=699.6+/-406.5;ESP6500_AA_GTC=170,838,1195;ESP6500_CDS_SIZES=NM_006055.2:1200,NM_001136575.1:1200,NM_001136574.1:1200;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=26;ESP6500_EA_AC=4278,4322;ESP6500_EA_AGE=574.7+/-390.1;ESP6500_EA_GTC=1038,2202,1060;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006055.2:intron,NM_001136575.1:intron,NM_001136574.1:intron;ESP6500_GL=LANCL1;ESP6500_GRCh38_POSITION=2:210476432;ESP6500_GTC=1208,3040,2255;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006055.2:c.-36G>C,NM_001136575.1:c.-36G>C,NM_001136574.1:c.-36G>C;ESP6500_MAF=49.7442,26.7363,41.9499;ESP6500_TAC=5456,7550	GT:AD:DP:GQ:PL	0/1:9,12:21:99:409,0,252
chr2	210476480	rs397722467;rs56033100	G	GC	398.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=1.445;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs56033100;dbSNPBuildID=132,138;ANN=GC|upstream_gene_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding||c.-1284_-1283insC|||||1201|,GC|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136574.1|protein_coding|1/9|c.-16-69dupG||||||,GC|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_006055.2|protein_coding|1/9|c.-16-69dupG||||||,GC|intron_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136575.1|protein_coding|1/9|c.-16-69dupG||||||;p3_1000G_AA=|||unknown(STR3?);p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=13145;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211341204;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:36:436,36,0
chr2	210477778	rs17552879;137026	G	A	469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.26;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=1.56;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17552879;dbSNPBuildID=123;ANN=A|upstream_gene_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136574.1|protein_coding||c.-1382C>T|||||1073|,A|upstream_gene_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_006055.2|protein_coding||c.-1382C>T|||||1011|,A|upstream_gene_variant|MODIFIER|LANCL1|LANCL1|transcript|NM_001136575.1|protein_coding||c.-1382C>T|||||1003|,A|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|1/38|c.3+12G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2408;p3_1000G_AF=0.480831;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=19427;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.4871;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211342502;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=832,2304;ESP6500_AA_GTC=112,608,848;ESP6500_CDS_SIZES=NM_001122633.2:4521;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=69;ESP6500_EA_AC=3572,3592;ESP6500_EA_GTC=861,1850,871;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001122633.2:intron;ESP6500_GL=CPS1;ESP6500_GRCh38_POSITION=2:210477778;ESP6500_GTC=973,2458,1719;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001122633.2:c.3+12G>A;ESP6500_MAF=49.8604,26.5306,42.7573;ESP6500_TAC=4404,5896;CLINVAR_AF_ESP=0.4276;CLINVAR_AF_TGP=0.4808;CLINVAR_ALLELEID=140729;CLINVAR_CLNDISDB=MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED_CT:62522004|MedGen:CN169374;CLINVAR_CLNDN=Congenital_hyperammonemia,_type_I|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.210477778G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CPS1:1373;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17552879	GT:AD:DP:GQ:PL	0/1:7,19:26:99:498,0,185
chr2	210556728	rs1225612781;rs61509952;rs3835047;203647	A	ATCT	462.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.261;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.599;SOR=0.569;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3835047,rs61509952;dbSNPBuildID=151,129;ANN=ATCT|conservative_inframe_insertion|MODERATE|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|2/39|c.15_16insTTC|p.Ile5_Lys6insPhe|98/5725|16/4521|6/1506||INFO_REALIGN_3_PRIME,ATCT|5_prime_UTR_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|1/38|c.-4_-3insTTC|||||3|INFO_REALIGN_3_PRIME;p3_1000G_AC=2389;p3_1000G_AF=0.477037;p3_1000G_AFR_AF=0.5968;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=19934;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.4175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211421452;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=INDEL;ESP6500_AA_AC=2464,1802;ESP6500_AA_GTC=707,1050,376;ESP6500_CDS_SIZES=NM_001875.4:4503,NM_001122633.2:4521;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=63;ESP6500_EA_AC=3312,4938;ESP6500_EA_GTC=646,2020,1459;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001875.4:utr-5,NM_001122633.2:coding;ESP6500_GL=CPS1;ESP6500_GRCh38_POSITION=2:210556728;ESP6500_GTC=1353,3070,1835;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001875.4:c.-6_-5insTCT,NM_001122633.2:c.13_14insTCT;ESP6500_HGVS_PROTEIN_VAR=.,NM_001122633.2:p.(I5delinsIF);ESP6500_MAF=40.1455,42.241,46.1489;ESP6500_TAC=5776,6740;CLINVAR_ALLELEID=199986;CLINVAR_CLNDISDB=MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED_CT:62522004|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Congenital_hyperammonemia,_type_I|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.210556730_210556731insTTC;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498224;CLINVAR_GENEINFO=CPS1:1373;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=61509952	GT:AD:DP:GQ:PL	0/1:13,12:25:99:500,0,605
chr2	210579809	rs35833900;rs375537753;rs397987627;rs745668937	G	GGT	224.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.983;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.035;SOR=0.804;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35833900;dbSNPBuildID=138,144,126,138;ANN=GGT|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|6/38|c.546+63_546+64dupTG||||||INFO_REALIGN_3_PRIME,GGT|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|5/37|c.528+63_528+64dupTG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,9:19:99:262,0,275
chr2	210591913	rs1047883;128849	A	G	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.867;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.76;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1047883;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|11/39|c.1048A>G|p.Thr350Ala|1130/5725|1048/4521|350/1506||,G|missense_variant|MODERATE|CPS1|CPS1|transcript|NM_001875.4|protein_coding|10/38|c.1030A>G|p.Thr344Ala|1165/5760|1030/4503|344/1500||,G|upstream_gene_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding||c.-3664A>G|||||1442|;ESP6500_AA=G;ESP6500_AA_AC=2815,1591;ESP6500_AA_AGE=488.3+/-361.2;ESP6500_AA_GTC=953,909,341;ESP6500_CDS_SIZES=NM_001875.4:4503,NM_001122633.2:4521;ESP6500_CG=-0.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=80;ESP6500_EA_AC=4881,3719;ESP6500_EA_AGE=530.8+/-381.9;ESP6500_EA_GTC=1361,2159,780;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001875.4:missense,NM_001122633.2:missense;ESP6500_GL=CPS1;ESP6500_GRCh38_POSITION=2:210591913;ESP6500_GS=58,58;ESP6500_GTC=2314,3068,1121;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001875.4:c.1030A>G,NM_001122633.2:c.1048A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001875.4:p.(T344A),NM_001122633.2:p.(T350A);ESP6500_MAF=43.2442,36.1099,40.8273;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=7696,5310;CLINVAR_ALLELEID=134297;CLINVAR_CLNDISDB=MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED_CT:62522004|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Congenital_hyperammonemia,_type_I|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.210591913A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27801|UniProtKB_(protein):P31327#VAR_006834;CLINVAR_GENEINFO=CPS1:1373;CLINVAR_MC=SO:0001583|missense_variant,SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1047883	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,9:31:99:0|1:210591913_A_G:344,0,1135
chr2	210591915	rs2229589;128850	C	T	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.264;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.475;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.936;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229589;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|11/39|c.1050C>T|p.Thr350Thr|1132/5725|1050/4521|350/1506||,T|synonymous_variant|LOW|CPS1|CPS1|transcript|NM_001875.4|protein_coding|10/38|c.1032C>T|p.Thr344Thr|1167/5760|1032/4503|344/1500||,T|upstream_gene_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding||c.-3662C>T|||||1440|;p3_1000G_AA=C|||;p3_1000G_AC=2961;p3_1000G_AF=0.591254;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=16517;p3_1000G_EAS_AF=0.5585;p3_1000G_EUR_AF=0.5646;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211456639;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2891,1515;ESP6500_AA_AGE=671.6+/-402.5;ESP6500_AA_GTC=962,967,274;ESP6500_CDS_SIZES=NM_001875.4:4503,NM_001122633.2:4521;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=79;ESP6500_EA_AC=4881,3719;ESP6500_EA_AGE=617.7+/-396.7;ESP6500_EA_GTC=1361,2159,780;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001875.4:coding-synonymous,NM_001122633.2:coding-synonymous;ESP6500_GL=CPS1;ESP6500_GRCh38_POSITION=2:210591915;ESP6500_GTC=2323,3126,1054;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001875.4:c.1032C>T,NM_001122633.2:c.1050C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001875.4:p.(T344),NM_001122633.2:p.(T350);ESP6500_MAF=43.2442,34.3849,40.243;ESP6500_TAC=7772,5234;CLINVAR_ALLELEID=134298;CLINVAR_CLNDISDB=MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED_CT:62522004|MedGen:CN169374;CLINVAR_CLNDN=Congenital_hyperammonemia,_type_I|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.210591915C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27810;CLINVAR_GENEINFO=CPS1:1373;CLINVAR_MC=SO:0001636|2KB_upstream_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229589	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,10:32:99:0|1:210591913_A_G:344,0,1135
chr2	210592732	rs16844641	A	G	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=0.712;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16844641;dbSNPBuildID=123;ANN=G|upstream_gene_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding||c.-2845A>G|||||623|,G|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|11/38|c.1105-147A>G||||||,G|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|10/37|c.1087-147A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=287;p3_1000G_AF=0.0573083;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=16824;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211457456;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:50:151,0,50
chr2	210605362	rs2277909	T	C	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.76;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=6.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.67;ReadPosRankSum=-0.394;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2277909;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|18/38|c.1999+116T>C||||||,C|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|17/37|c.1981+116T>C||||||,C|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|7/27|c.628+116T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=866;p3_1000G_AF=0.172923;p3_1000G_AFR_AF=0.2103;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=20753;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211470086;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,5:16:99:135,0,280
chr2	210608346	rs2287600;137023	G	T	51.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.307;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.45;ReadPosRankSum=-0.518;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287600;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|19/38|c.2211-15G>T||||||,T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|18/37|c.2193-15G>T||||||,T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|8/27|c.840-15G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=684;p3_1000G_AF=0.136581;p3_1000G_AFR_AF=0.0219;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=18955;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.1133;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211473070;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=159,4247;ESP6500_AA_AGE=87.8+/-126.4;ESP6500_AA_GTC=5,149,2049;ESP6500_CDS_SIZES=NM_001875.4:4503,NM_001122634.2:3150,NM_001122633.2:4521;ESP6500_CG=-12.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=49;ESP6500_EA_AC=931,7663;ESP6500_EA_AGE=170.6+/-221.7;ESP6500_EA_GTC=57,817,3423;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001875.4:intron,NM_001122634.2:intron,NM_001122633.2:intron;ESP6500_GL=CPS1;ESP6500_GRCh38_POSITION=2:210608346;ESP6500_GTC=62,966,5472;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001875.4:c.2193-15G>T,NM_001122634.2:c.840-15G>T,NM_001122633.2:c.2211-15G>T;ESP6500_MAF=10.8331,3.6087,8.3846;ESP6500_TAC=1090,11910;CLINVAR_AF_ESP=0.0839;CLINVAR_AF_EXAC=0.12549;CLINVAR_AF_TGP=0.1366;CLINVAR_ALLELEID=140726;CLINVAR_CLNDISDB=MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED_CT:62522004|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Congenital_hyperammonemia,_type_I|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.210608346G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:54196;CLINVAR_GENEINFO=CPS1:1373;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2287600	GT:AD:DP:GQ:PL	0/1:11,4:15:80:80,0,352
chr2	210616533	rs2287599;128851	C	G	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=6.711;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.77;SOR=1.855;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2287599;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|22/39|c.2697C>G|p.Gly899Gly|2779/5725|2697/4521|899/1506||,G|synonymous_variant|LOW|CPS1|CPS1|transcript|NM_001875.4|protein_coding|21/38|c.2679C>G|p.Gly893Gly|2814/5760|2679/4503|893/1500||,G|synonymous_variant|LOW|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|11/28|c.1326C>G|p.Gly442Gly|1835/4781|1326/3150|442/1049||,G|upstream_gene_variant|MODIFIER|CPS1-IT1|CPS1-IT1|transcript|NR_002763.2|pseudogene||n.-1038C>G|||||1038|;p3_1000G_AA=G|||;p3_1000G_AC=3251;p3_1000G_AF=0.649161;p3_1000G_AFR_AF=0.9107;p3_1000G_AMR_AF=0.4885;p3_1000G_AN=5008;p3_1000G_DP=17249;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.5537;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211481257;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.636;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3783,623;ESP6500_AA_AGE=269.2+/-268.9;ESP6500_AA_GTC=1624,535,44;ESP6500_CDS_SIZES=NM_001875.4:4503,NM_001122634.2:3150,NM_001122633.2:4521;ESP6500_CG=-0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=146;ESP6500_EA_AC=4830,3770;ESP6500_EA_AGE=531.5+/-382.0;ESP6500_EA_GTC=1333,2164,803;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001875.4:coding-synonymous,NM_001122634.2:coding-synonymous,NM_001122633.2:coding-synonymous;ESP6500_GL=CPS1;ESP6500_GRCh38_POSITION=2:210616533;ESP6500_GTC=2957,2699,847;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001875.4:c.2679C>G,NM_001122634.2:c.1326C>G,NM_001122633.2:c.2697C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001875.4:p.(G893),NM_001122634.2:p.(G442),NM_001122633.2:p.(G899);ESP6500_MAF=43.8372,14.1398,33.7767;ESP6500_TAC=8613,4393;CLINVAR_ALLELEID=134299;CLINVAR_CLNDISDB=MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED_CT:62522004|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Congenital_hyperammonemia,_type_I|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.210616533C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27818;CLINVAR_GENEINFO=CPS1:1373;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2287599	GT:AD:DP:GQ:PL	0/1:25,19:44:99:571,0,709
chr2	210648394	rs4673540	C	T	694.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4673540;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|27/38|c.3355-79C>T||||||,T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|26/37|c.3337-79C>T||||||,T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|16/27|c.1984-79C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18419;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211513118;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:723,66,0
chr2	210650271	rs34449727	G	T	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.295;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=0.518;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34449727;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|28/38|c.3423-92G>T||||||,T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|27/37|c.3405-92G>T||||||,T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|17/27|c.2052-92G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1121;p3_1000G_AF=0.223842;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=19104;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.3718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211514995;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3282;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,3:12:76:76,0,278
chr2	210656503	rs575213772;rs58225253;rs796104481	CT	C	287.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.643;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=-0.224;SOR=0.697;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs58225253;dbSNPBuildID=130,142,146;ANN=C|splice_region_variant&intron_variant|LOW|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|30/38|c.3577-7delT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|CPS1|CPS1|transcript|NM_001875.4|protein_coding|29/37|c.3559-7delT||||||INFO_REALIGN_3_PRIME,C|splice_region_variant&intron_variant|LOW|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|19/27|c.2206-7delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4172;p3_1000G_AF=0.833067;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=15159;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.8588;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211521227;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8415;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,14:17:18:325,0,18
chr2	210658733	rs6435580;258482	C	T	476.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.525;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.283;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.017;SOR=0.461;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6435580;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|32/38|c.3774+45C>T||||||,T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|31/37|c.3756+45C>T||||||,T|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|21/27|c.2403+45C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=878;p3_1000G_AF=0.175319;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=20177;p3_1000G_EAS_AF=0.1032;p3_1000G_EUR_AF=0.3131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211523457;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=410,3996;ESP6500_AA_AGE=200.8+/-224.0;ESP6500_AA_GTC=21,368,1814;ESP6500_CDS_SIZES=NM_001875.4:4503,NM_001122634.2:3150,NM_001122633.2:4521;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=56;ESP6500_EA_AC=2916,5684;ESP6500_EA_AGE=449.5+/-362.1;ESP6500_EA_GTC=490,1936,1874;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001875.4:intron,NM_001122634.2:intron,NM_001122633.2:intron;ESP6500_GL=CPS1;ESP6500_GRCh38_POSITION=2:210658733;ESP6500_GTC=511,2304,3688;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001875.4:c.3756+45C>T,NM_001122634.2:c.2403+45C>T,NM_001122633.2:c.3774+45C>T;ESP6500_MAF=33.907,9.3055,25.5728;ESP6500_TAC=3326,9680;CLINVAR_AF_ESP=0.2557;CLINVAR_AF_EXAC=0.28284;CLINVAR_AF_TGP=0.1753;CLINVAR_ALLELEID=250539;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=not_specified|not_provided;CLINVAR_CLNHGVS=NC_000002.12:g.210658733C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CPS1:1373;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6435580	GT:AD:DP:GQ:PL	0/1:21,20:41:99:505,0,522
chr2	210663103	rs1184147635;rs397703682;258483	GT	G	2112.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=87;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=-0.499;SOR=1.022;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5838215;dbSNPBuildID=151,136;ANN=G|splice_region_variant&intron_variant|LOW|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|33/38|c.3946-8delT||||||INFO_REALIGN_3_PRIME,G|splice_region_variant&intron_variant|LOW|CPS1|CPS1|transcript|NM_001875.4|protein_coding|32/37|c.3928-8delT||||||INFO_REALIGN_3_PRIME,G|splice_region_variant&intron_variant|LOW|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|22/27|c.2575-8delT||||||INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=250540;CLINVAR_CLNDISDB=MedGen:C0751753,OMIM:237300,Orphanet:ORPHA147,SNOMED_CT:62522004|MedGen:CN169374;CLINVAR_CLNDN=Congenital_hyperammonemia,_type_I|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.210663115delT;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=CPS1:1373;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=397703682	GT:AD:DP:GQ:PL	1/1:2,78:80:99:2150,197,0
chr2	210668076	rs113243191;rs3217217	A	ATG	27.71	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=13.86;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113243191,rs3217217;dbSNPBuildID=106,132;ANN=ATG|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|34/38|c.4021-82_4021-81dupGT||||||INFO_REALIGN_3_PRIME,ATG|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|33/37|c.4003-82_4003-81dupGT||||||INFO_REALIGN_3_PRIME,ATG|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|23/27|c.2650-82_2650-81dupGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,2:2:6:64,6,0
chr2	210668346	rs10932347	A	G	627.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932347;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122633.2|protein_coding|35/38|c.4119+62A>G||||||,G|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001875.4|protein_coding|34/37|c.4101+62A>G||||||,G|intron_variant|MODIFIER|CPS1|CPS1|transcript|NM_001122634.3|protein_coding|24/27|c.2748+62A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4764;p3_1000G_AF=0.951278;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=15285;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9503;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=211533070;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:656,57,0
chr2	211430865	rs141267844	G	GT	464.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=1.911;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs141267844;dbSNPBuildID=134;ANN=GT|intron_variant|MODIFIER|ERBB4|ERBB4|transcript|NM_005235.2|protein_coding|21/27|c.2643+79dupA||||||,GT|intron_variant|MODIFIER|ERBB4|ERBB4|transcript|NM_001042599.1|protein_coding|21/26|c.2643+79dupA||||||;p3_1000G_AA=TTT|TTT|TTTT|insertion;p3_1000G_AC=1430;p3_1000G_AF=0.285543;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=15798;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.4334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212295590;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:502,45,0
chr2	211431150	rs6710946	C	T	316.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.68;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6710946;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ERBB4|ERBB4|transcript|NM_005235.2|protein_coding|20/27|c.2488-50G>A||||||,T|intron_variant|MODIFIER|ERBB4|ERBB4|transcript|NM_001042599.1|protein_coding|20/26|c.2488-50G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3974;p3_1000G_AF=0.79353;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=16863;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.7396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212295875;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4060,344;ESP6500_AA_GTC=1885,290,27;ESP6500_CDS_SIZES=NM_005235.2:3927,NM_001042599.1:3879;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=40;ESP6500_EA_AC=6120,2480;ESP6500_EA_GTC=2198,1724,378;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005235.2:intron,NM_001042599.1:intron;ESP6500_GL=ERBB4;ESP6500_GRCh38_POSITION=2:211431150;ESP6500_GTC=4083,2014,405;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005235.2:c.2488-50G>A,NM_001042599.1:c.2488-50G>A;ESP6500_MAF=28.8372,7.8111,21.7164;ESP6500_TAC=10180,2824	GT:AD:DP:GQ:PL	1/1:0,10:10:30:345,30,0
chr2	211624145	rs76332141	G	GC	364.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=2.494;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs76332141,rs3215298;dbSNPBuildID=131;ANN=GC|intron_variant|MODIFIER|ERBB4|ERBB4|transcript|NM_005235.2|protein_coding|17/27|c.2080-102_2080-101insG||||||,GC|intron_variant|MODIFIER|ERBB4|ERBB4|transcript|NM_001042599.1|protein_coding|17/26|c.2080-102_2080-101insG||||||;p3_1000G_AA=C|-|C|deletion;p3_1000G_AC=4268;p3_1000G_AF=0.852236;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.9135;p3_1000G_AN=5008;p3_1000G_DP=20390;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.9284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=212488870;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:402,33,0
chr2	213021730	rs2291241	A	T	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.049;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.266;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=0.47;SOR=1.035;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291241;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_016260.2|protein_coding|6/7|c.712+263T>A||||||,T|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_001079526.1|protein_coding|7/8|c.634+263T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3717;p3_1000G_AF=0.742212;p3_1000G_AFR_AF=0.5847;p3_1000G_AMR_AF=0.8588;p3_1000G_AN=5008;p3_1000G_DP=18071;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.8598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213886454;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,17:40:99:365,0,589
chr2	213021923	rs141472671	A	ATTTTATCT	355.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.952;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.76;ReadPosRankSum=-2.5;SOR=1.781;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71301555,rs141472671;dbSNPBuildID=134;ANN=ATTTTATCT|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_016260.2|protein_coding|6/7|c.712+62_712+69dupAGATAAAA||||||,ATTTTATCT|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_001079526.1|protein_coding|7/8|c.634+62_634+69dupAGATAAAA||||||;p3_1000G_AC=2891;p3_1000G_AF=0.577276;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=19762;p3_1000G_EAS_AF=0.7857;p3_1000G_EUR_AF=0.5924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213886647;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,9:18:99:393,0,845
chr2	213049619	rs2165444	C	T	546.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2165444;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_016260.2|protein_coding|5/7|c.574+94G>A||||||,T|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_001079526.1|protein_coding|6/8|c.496+94G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4956;p3_1000G_AF=0.989617;p3_1000G_AFR_AF=0.9607;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19114;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=213914343;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:575,48,0
chr2	213147679	rs1491528478	CAA	C	34.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.415;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.434;SOR=0.67;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_016260.2|protein_coding|3/7|c.139+27_139+28delTT||||||,C|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_001079526.1|protein_coding|4/8|c.139+27_139+28delTT||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:69,8:77:72:0|1:213147679_CAA_C:72,0,2330
chr2	213147681	rs6738070;rs547307585	A	C	1852.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.06;ReadPosRankSum=0.434;SOR=0.717;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6738070;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_016260.2|protein_coding|3/7|c.139+27T>G||||||,C|intron_variant|MODIFIER|IKZF2|IKZF2|transcript|NM_001079526.1|protein_coding|4/8|c.139+27T>G||||||;p3_1000G_AC=4679;p3_1000G_AF=0.934305;p3_1000G_AFR_AF=0.9039;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=19606;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.9463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214012405;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP,INDEL;ESP6500_AA=A;ESP6500_AA_AC=4002,404;ESP6500_AA_GTC=1902,198,103;ESP6500_CDS_SIZES=NM_016260.2:1581,NM_001079526.1:1503;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=186;ESP6500_EA_AC=8066,534;ESP6500_EA_GTC=3893,280,127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016260.2:intron,NM_001079526.1:intron;ESP6500_GL=IKZF2;ESP6500_GRCh38_POSITION=2:213147681;ESP6500_GTC=5795,478,230;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_016260.2:c.139+27T>G,NM_001079526.1:c.139+27T>G;ESP6500_MAF=6.2093,9.1693,7.2121;ESP6500_TAC=12068,938	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,69:77:73:1|0:213147679_CAA_C:1881,0,73
chr2	213277916	.	T	C	12.05	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;ANN=C|missense_variant|MODERATE|LOC100130451|LOC100130451|transcript|NM_001242575.1|protein_coding|3/3|c.236A>G|p.Glu79Gly|363/1726|236/435|79/144||	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31
chr2	213310319	rs200262300	AACACACACACAC	A	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs200262300;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NM_024532.4|protein_coding|4/15|c.398+186_398+197delCACACACACACA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NM_001025436.2|protein_coding|4/4|c.398+186_398+197delCACACACACACA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047659.1|pseudogene|6/17|n.678+186_678+197delCACACACACACA||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047660.1|pseudogene|3/14|n.385-6856_385-6845delCACACACACACA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0
chr2	213364068	rs12469417	C	T	133.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.78;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12469417;dbSNPBuildID=120;ANN=T|splice_region_variant&intron_variant|LOW|SPAG16|SPAG16|transcript|NM_024532.4|protein_coding|7/15|c.763-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SPAG16|SPAG16|transcript|NR_047659.1|pseudogene|9/17|n.1043-8C>T||||||,T|splice_region_variant&intron_variant|LOW|SPAG16|SPAG16|transcript|NR_047660.1|pseudogene|6/14|n.749-8C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4888;p3_1000G_AF=0.976038;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=12324;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214228792;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3971,349;ESP6500_AA_GTC=1829,313,18;ESP6500_CDS_SIZES=NM_024532.4:1896;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=16;ESP6500_EA_AC=8510,4;ESP6500_EA_GTC=4253,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024532.4:intron;ESP6500_GL=SPAG16;ESP6500_GRCh38_POSITION=2:213364068;ESP6500_GTC=6082,317,18;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024532.4:c.763-8C>T;ESP6500_MAF=0.047,8.0787,2.7505;ESP6500_TAC=12481,353	GT:AD:DP:GQ:PL	1/1:0,5:5:15:162,15,0
chr2	213364235	rs4146048	G	A	148.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.81;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4146048;dbSNPBuildID=110;ANN=A|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NM_024532.4|protein_coding|8/15|c.832+90G>A||||||,A|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047659.1|pseudogene|10/17|n.1112+90G>A||||||,A|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047660.1|pseudogene|7/14|n.818+90G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4888;p3_1000G_AF=0.976038;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=13593;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214228959;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:177,18,0
chr2	213862426	rs2042790	T	C	839.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.59;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2042790;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NM_024532.4|protein_coding|10/15|c.1071-59T>C||||||,C|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047659.1|pseudogene|12/17|n.1351-59T>C||||||,C|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047660.1|pseudogene|9/14|n.1057-59T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1924;p3_1000G_AF=0.384185;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=21886;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214727150;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:868,75,0
chr2	213862497	rs2042791	A	C	1770.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=1.487;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2042791;dbSNPBuildID=94;ANN=C|missense_variant|MODERATE|SPAG16|SPAG16|transcript|NM_024532.4|protein_coding|11/16|c.1083A>C|p.Gln361His|1188/2187|1083/1896|361/631||,C|non_coding_transcript_exon_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047659.1|pseudogene|13/18|n.1363A>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047660.1|pseudogene|10/15|n.1069A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1924;p3_1000G_AF=0.384185;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=21486;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214727221;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1008,3398;ESP6500_AA_AGE=729.1+/-410.0;ESP6500_AA_GTC=117,774,1312;ESP6500_CDS_SIZES=NM_024532.4:1896;ESP6500_CG=-1.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=116;ESP6500_EA_AC=3250,5350;ESP6500_EA_AGE=648.1+/-400.5;ESP6500_EA_GTC=623,2004,1673;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024532.4:missense;ESP6500_GL=SPAG16;ESP6500_GRCh38_POSITION=2:213862497;ESP6500_GS=24;ESP6500_GTC=740,2778,2985;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_024532.4:c.1083A>C;ESP6500_HGVS_PROTEIN_VAR=NM_024532.4:p.(Q361H);ESP6500_MAF=37.7907,22.8779,32.7387;ESP6500_PH=benign:0.0;ESP6500_TAC=4258,8748	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1799,165,0
chr2	213862643	rs2042792	C	G	1208.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2042792;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NM_024532.4|protein_coding|11/15|c.1214+15C>G||||||,G|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047659.1|pseudogene|13/17|n.1494+15C>G||||||,G|intron_variant|MODIFIER|SPAG16|SPAG16|transcript|NR_047660.1|pseudogene|10/14|n.1200+15C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1922;p3_1000G_AF=0.383786;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19352;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.3688;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=214727367;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1010,3396;ESP6500_AA_AGE=368.8+/-318.8;ESP6500_AA_GTC=115,780,1308;ESP6500_CDS_SIZES=NM_024532.4:1896;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=70;ESP6500_EA_AC=3241,5359;ESP6500_EA_AGE=479.0+/-370.0;ESP6500_EA_GTC=623,1995,1682;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024532.4:intron;ESP6500_GL=SPAG16;ESP6500_GRCh38_POSITION=2:213862643;ESP6500_GTC=738,2775,2990;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024532.4:c.1214+15C>G;ESP6500_MAF=37.686,22.9233,32.6849;ESP6500_TAC=4251,8755	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1237,102,0
chr2	214744921	rs35411590	A	G	278.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35411590;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_000465.3|protein_coding|9/10|c.1903+146T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282543.1|protein_coding|8/9|c.1846+146T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282545.1|protein_coding|5/6|c.550+146T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282548.1|protein_coding|4/5|c.493+146T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282549.1|protein_coding|3/4|c.365-14413T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104212.1|pseudogene|8/9|n.1896+146T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104215.1|pseudogene|7/8|n.1839+146T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104216.1|pseudogene|8/9|n.1095+146T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=2608;p3_1000G_AF=0.520767;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=15820;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.4722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215609645;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:307,27,0
chr2	214745589	rs6730040	G	T	156.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6730040;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_000465.3|protein_coding|8/10|c.1810+133C>A||||||,T|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282543.1|protein_coding|7/9|c.1753+133C>A||||||,T|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282545.1|protein_coding|4/6|c.457+133C>A||||||,T|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282548.1|protein_coding|3/5|c.400+133C>A||||||,T|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282549.1|protein_coding|3/4|c.365-15081C>A||||||,T|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104212.1|pseudogene|7/9|n.1803+133C>A||||||,T|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104215.1|pseudogene|6/8|n.1746+133C>A||||||,T|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104216.1|pseudogene|7/9|n.1002+133C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2606;p3_1000G_AF=0.520367;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=18627;p3_1000G_EAS_AF=0.6081;p3_1000G_EUR_AF=0.4722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215610313;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:185,15,0
chr2	214767532	rs2070093;183704	A	G	1616.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2070093;dbSNPBuildID=96;ANN=G|structural_interaction_variant|HIGH|BARD1|BARD1|interaction|3C5R:A_469-A_506:NM_000465.3|protein_coding|6/11|c.1518T>C||||||,G|structural_interaction_variant|HIGH|BARD1|BARD1|interaction|3C5R:A_470-A_506:NM_000465.3|protein_coding|6/11|c.1518T>C||||||,G|structural_interaction_variant|HIGH|BARD1|BARD1|interaction|3C5R:A_472-A_506:NM_000465.3|protein_coding|6/11|c.1518T>C||||||,G|structural_interaction_variant|HIGH|BARD1|BARD1|interaction|3C5R:A_506-A_539:NM_000465.3|protein_coding|6/11|c.1518T>C||||||,G|structural_interaction_variant|HIGH|BARD1|BARD1|interaction|3C5R:B_469-B_506:NM_000465.3|protein_coding|6/11|c.1518T>C||||||,G|structural_interaction_variant|HIGH|BARD1|BARD1|interaction|3C5R:B_470-B_506:NM_000465.3|protein_coding|6/11|c.1518T>C||||||,G|structural_interaction_variant|HIGH|BARD1|BARD1|interaction|3C5R:B_472-B_506:NM_000465.3|protein_coding|6/11|c.1518T>C||||||,G|structural_interaction_variant|HIGH|BARD1|BARD1|interaction|3C5R:B_506-B_539:NM_000465.3|protein_coding|6/11|c.1518T>C||||||,G|synonymous_variant|LOW|BARD1|BARD1|transcript|NM_000465.3|protein_coding|6/11|c.1518T>C|p.His506His|1660/5506|1518/2334|506/777||,G|synonymous_variant|LOW|BARD1|BARD1|transcript|NM_001282543.1|protein_coding|5/10|c.1461T>C|p.His487His|1603/5449|1461/2277|487/758||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282545.1|protein_coding|2/6|c.216-14977T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282548.1|protein_coding|1/5|c.159-14977T>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282549.1|protein_coding|3/4|c.364+24765T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104212.1|pseudogene|5/10|n.1511T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104215.1|pseudogene|4/9|n.1454T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104216.1|pseudogene|5/10|n.710T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3859;p3_1000G_AF=0.770567;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=18610;p3_1000G_EAS_AF=0.9484;p3_1000G_EUR_AF=0.8181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215632256;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2571,1835;ESP6500_AA_GTC=819,933,451;ESP6500_CDS_SIZES=NM_000465.2:2334;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=120;ESP6500_EA_AC=6713,1887;ESP6500_EA_GTC=2726,1261,313;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000465.2:coding-synonymous;ESP6500_GL=BARD1;ESP6500_GRCh38_POSITION=2:214767532;ESP6500_GTC=3545,2194,764;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000465.2:c.1518T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000465.2:p.(H506);ESP6500_MAF=21.9419,41.6478,28.6176;ESP6500_TAC=9284,3722;CLINVAR_ALLELEID=181790;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED_CT:126926005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:CN169374;CLINVAR_CLNDN=Neoplasm_of_the_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.214767532A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:17939|Illumina_Clinical_Services_Laboratory,Illumina:27866;CLINVAR_GENEINFO=BARD1:580;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2070093	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,53:53:99:1|1:214767532_A_G:1645,159,0
chr2	214809366	rs35933323	T	G	368.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35933323;dbSNPBuildID=126;ANN=G|upstream_gene_variant|MODIFIER|LOC101928103|LOC101928103|transcript|NR_110292.1|pseudogene||n.-863T>G|||||863|,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_000465.3|protein_coding|1/10|c.158+46A>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282543.1|protein_coding|1/9|c.158+46A>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282545.1|protein_coding|1/6|c.158+46A>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282548.1|protein_coding|1/5|c.158+46A>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282549.1|protein_coding|1/4|c.158+46A>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104212.1|pseudogene|1/9|n.300+46A>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104215.1|pseudogene|1/8|n.300+46A>C||||||,G|intron_variant|MODIFIER|BARD1|BARD1|transcript|NR_104216.1|pseudogene|1/9|n.300+46A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3730;p3_1000G_AF=0.744808;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=12101;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.7386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215674090;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2952,840;ESP6500_AA_GTC=1148,656,92;ESP6500_CDS_SIZES=NM_000465.2:2334;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=9;ESP6500_EA_AC=5647,2073;ESP6500_EA_GTC=2076,1495,289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000465.2:intron;ESP6500_GL=BARD1;ESP6500_GRCh38_POSITION=2:214809366;ESP6500_GTC=3224,2151,381;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000465.2:c.158+46A>C;ESP6500_MAF=26.8523,22.1519,25.304;ESP6500_TAC=8599,2913	GT:AD:DP:GQ:PL	1/1:0,11:11:33:397,33,0
chr2	214809599	rs1129804;334199	C	G	668.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1129804;dbSNPBuildID=86;ANN=G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_000465.3|protein_coding|1/11|c.-30G>C|||||30|,G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282543.1|protein_coding|1/10|c.-30G>C|||||30|,G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282545.1|protein_coding|1/7|c.-30G>C|||||30|,G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282548.1|protein_coding|1/6|c.-30G>C|||||30|,G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282549.1|protein_coding|1/5|c.-30G>C|||||30|,G|upstream_gene_variant|MODIFIER|LOC101928103|LOC101928103|transcript|NR_110292.1|pseudogene||n.-630C>G|||||630|,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104212.1|pseudogene|1/10|n.113G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104215.1|pseudogene|1/9|n.113G>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104216.1|pseudogene|1/10|n.113G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3729;p3_1000G_AF=0.744609;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=10687;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.7406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215674323;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2988,748;ESP6500_AA_GTC=1207,574,87;ESP6500_CDS_SIZES=NM_000465.2:2334;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=3;ESP6500_EA_AC=5743,1847;ESP6500_EA_GTC=2201,1341,253;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000465.2:utr-5;ESP6500_GL=BARD1;ESP6500_GRCh38_POSITION=2:214809599;ESP6500_GTC=3408,1915,340;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_000465.2:c.-30G>C;ESP6500_MAF=24.3347,20.0214,22.9119;ESP6500_TAC=8731,2595;CLINVAR_ALLELEID=287668;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED_CT:126926005;CLINVAR_CLNDN=Neoplasm_of_the_breast;CLINVAR_CLNHGVS=NC_000002.12:g.214809599C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27883;CLINVAR_GENEINFO=BARD1:580;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1129804	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:214809599_C_G:697,48,0
chr2	214809617	rs17489363;334200	A	G	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.83;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17489363;dbSNPBuildID=123;ANN=G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_000465.3|protein_coding|1/11|c.-48T>C|||||48|,G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282543.1|protein_coding|1/10|c.-48T>C|||||48|,G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282545.1|protein_coding|1/7|c.-48T>C|||||48|,G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282548.1|protein_coding|1/6|c.-48T>C|||||48|,G|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282549.1|protein_coding|1/5|c.-48T>C|||||48|,G|upstream_gene_variant|MODIFIER|LOC101928103|LOC101928103|transcript|NR_110292.1|pseudogene||n.-612A>G|||||612|,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104212.1|pseudogene|1/10|n.95T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104215.1|pseudogene|1/9|n.95T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104216.1|pseudogene|1/10|n.95T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3731;p3_1000G_AF=0.745008;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=10715;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.7406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215674341;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6462;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2824,664;ESP6500_AA_GTC=1141,542,61;ESP6500_CDS_SIZES=NM_000465.2:2334;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=3;ESP6500_EA_AC=5590,1638;ESP6500_EA_GTC=2183,1224,207;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000465.2:utr-5;ESP6500_GL=BARD1;ESP6500_GRCh38_POSITION=2:214809617;ESP6500_GTC=3324,1766,268;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000465.2:c.-48T>C;ESP6500_MAF=22.6619,19.0367,21.4819;ESP6500_TAC=8414,2302;CLINVAR_ALLELEID=284585;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED_CT:126926005;CLINVAR_CLNDN=Neoplasm_of_the_breast;CLINVAR_CLNHGVS=NC_000002.12:g.214809617A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27889;CLINVAR_GENEINFO=BARD1:580;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17489363	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:214809599_C_G:630,42,0
chr2	214809647	rs34732883;334201	C	T	328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.88;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34732883;dbSNPBuildID=126;ANN=T|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_000465.3|protein_coding|1/11|c.-78G>A|||||78|,T|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282543.1|protein_coding|1/10|c.-78G>A|||||78|,T|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282545.1|protein_coding|1/7|c.-78G>A|||||78|,T|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282548.1|protein_coding|1/6|c.-78G>A|||||78|,T|5_prime_UTR_variant|MODIFIER|BARD1|BARD1|transcript|NM_001282549.1|protein_coding|1/5|c.-78G>A|||||78|,T|upstream_gene_variant|MODIFIER|LOC101928103|LOC101928103|transcript|NR_110292.1|pseudogene||n.-582C>T|||||582|,T|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104212.1|pseudogene|1/10|n.65G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104215.1|pseudogene|1/9|n.65G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|BARD1|BARD1|transcript|NR_104216.1|pseudogene|1/10|n.65G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3297;p3_1000G_AF=0.658347;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=9989;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215674371;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5941;p3_1000G_VT=SNP;CLINVAR_ALLELEID=285282;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0100013,MeSH:D001943,MedGen:C1458155,Orphanet:ORPHA180250,SNOMED_CT:126926005;CLINVAR_CLNDN=Neoplasm_of_the_breast;CLINVAR_CLNHGVS=NC_000002.12:g.214809647C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27894;CLINVAR_GENEINFO=BARD1:580;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34732883	GT:AD:DP:GQ:PL	1/1:0,10:10:30:357,30,0
chr2	214955289	rs10498027;262831	G	A	899.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.894;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.28;SOR=0.52;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10498027;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|43/53|c.6306C>T|p.Tyr2102Tyr|6526/9100|6306/7788|2102/2595||,A|synonymous_variant|LOW|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|35/45|c.5352C>T|p.Tyr1784Tyr|5511/8085|5352/6834|1784/2277||,A|intron_variant|MODIFIER|LOC101928103|LOC101928103|transcript|NR_110292.1|pseudogene|3/3|n.445-6521G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|45/55|n.6606C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1753;p3_1000G_AF=0.35004;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=19189;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.3956;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215820013;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1389,3017;ESP6500_AA_AGE=688.5+/-405.0;ESP6500_AA_GTC=221,947,1035;ESP6500_CDS_SIZES=NM_173076.2:7788,NM_015657.3:6834;ESP6500_CG=-3.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=91;ESP6500_EA_AC=3582,5018;ESP6500_EA_AGE=627.9+/-398.0;ESP6500_EA_GTC=762,2058,1480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173076.2:coding-synonymous,NM_015657.3:coding-synonymous;ESP6500_GL=ABCA12;ESP6500_GRCh38_POSITION=2:214955289;ESP6500_GTC=983,3005,2515;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173076.2:c.6306C>T,NM_015657.3:c.5352C>T;ESP6500_HGVS_PROTEIN_VAR=NM_173076.2:p.(Y2102),NM_015657.3:p.(Y1784);ESP6500_MAF=41.6512,31.5252,38.2208;ESP6500_TAC=4971,8035;CLINVAR_AF_ESP=0.3822;CLINVAR_AF_EXAC=0.40511;CLINVAR_AF_TGP=0.3500;CLINVAR_ALLELEID=250546;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0007431,MedGen:C0079583|MedGen:CN169374;CLINVAR_CLNDN=Congenital_ichthyosiform_erythroderma|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.214955289G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27920;CLINVAR_GENEINFO=ABCA12:26154|LOC101928103:101928103;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10498027	GT:AD:DP:GQ:PL	0/1:35,40:75:99:928,0,871
chr2	214968691	rs4673925	A	G	604.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=0.204;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4673925;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|38/52|c.5778+29T>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|30/44|c.4824+29T>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|40/54|n.6078+29T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2292;p3_1000G_AF=0.457668;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=17899;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.4871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215833415;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2256,2150;ESP6500_AA_AGE=560.6+/-380.5;ESP6500_AA_GTC=581,1094,528;ESP6500_CDS_SIZES=NM_173076.2:7788,NM_015657.3:6834;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=64;ESP6500_EA_AC=4420,4178;ESP6500_EA_AGE=563.0+/-388.1;ESP6500_EA_GTC=1146,2128,1025;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173076.2:intron,NM_015657.3:intron;ESP6500_GL=ABCA12;ESP6500_GRCh38_POSITION=2:214968691;ESP6500_GTC=1727,3222,1553;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173076.2:c.5778+29T>C,NM_015657.3:c.4824+29T>C;ESP6500_MAF=48.5927,48.7971,48.662;ESP6500_TAC=6676,6328	GT:AD:DP:GQ:PL	0/1:12,22:34:99:633,0,270
chr2	214968898	rs6756540	G	T	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6756540;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|37/52|c.5691-91C>A||||||,T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|29/44|c.4737-91C>A||||||,T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|39/54|n.5991-91C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2252;p3_1000G_AF=0.449681;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=16914;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.4871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215833622;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:99:101,0,106
chr2	214975690	rs17493319	C	A	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.18;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.68;ReadPosRankSum=-0.712;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17493319;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|34/52|c.5381+95G>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|26/44|c.4427+95G>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|36/54|n.5681+95G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2229;p3_1000G_AF=0.445088;p3_1000G_AFR_AF=0.4349;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=19896;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.504;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215840414;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:61:61,0,189
chr2	214982453	rs4610055	C	A	301.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4610055;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|29/52|c.4383-70G>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|21/44|c.3429-70G>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|31/54|n.4683-70G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3482;p3_1000G_AF=0.695288;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=17206;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.8976;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215847177;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:330,27,0
chr2	214986522	rs7559069;262828	A	G	826.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7559069;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|28/52|c.4163+20T>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|20/44|c.3209+20T>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|30/54|n.4463+20T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16577;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215851246;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4392,14;ESP6500_AA_AGE=21.2+/-45.6;ESP6500_AA_GTC=2189,14,0;ESP6500_CDS_SIZES=NM_173076.2:7788,NM_015657.3:6834;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=8599,1;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=4299,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173076.2:intron,NM_015657.3:intron;ESP6500_GL=ABCA12;ESP6500_GRCh38_POSITION=2:214986522;ESP6500_GTC=6488,15,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_173076.2:c.4163+20T>C,NM_015657.3:c.3209+20T>C;ESP6500_MAF=0.0116,0.3177,0.1153;ESP6500_TAC=12991,15;CLINVAR_ALLELEID=250549;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.214986522A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ABCA12:26154;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7559069	GT:AD:DP:GQ:PL	1/1:0,26:26:78:855,78,0
chr2	214991173	rs1880134	T	G	97.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1880134;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|23/52|c.3295-142A>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|15/44|c.2341-142A>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|25/54|n.3595-142A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3601;p3_1000G_AF=0.71905;p3_1000G_AFR_AF=0.3026;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=19191;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.9066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215855897;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:125,9,0
chr2	214997659	rs1980844	G	A	508.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.93;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1980844;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|23/52|c.3294+36C>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|15/44|c.2340+36C>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|25/54|n.3594+36C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3583;p3_1000G_AF=0.715455;p3_1000G_AFR_AF=0.2927;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=17410;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215862383;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1727,2679;ESP6500_AA_AGE=502.7+/-365.3;ESP6500_AA_GTC=346,1035,822;ESP6500_CDS_SIZES=NM_173076.2:7788,NM_015657.3:6834;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=45;ESP6500_EA_AC=7741,859;ESP6500_EA_AGE=774.5+/-407.7;ESP6500_EA_GTC=3484,773,43;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173076.2:intron,NM_015657.3:intron;ESP6500_GL=ABCA12;ESP6500_GRCh38_POSITION=2:214997659;ESP6500_GTC=3830,1808,865;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_173076.2:c.3294+36C>T,NM_015657.3:c.2340+36C>T;ESP6500_MAF=9.9884,39.1966,27.2028;ESP6500_TAC=9468,3538	GT:AD:DP:GQ:PL	1/1:0,17:17:51:537,51,0
chr2	214997909	rs1326748	C	G	108.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1326748;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|22/52|c.3180-100G>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|14/44|c.2226-100G>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|24/54|n.3480-100G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4995;p3_1000G_AF=0.997404;p3_1000G_AFR_AF=0.9909;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=17565;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215862633;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:136,12,0
chr2	215001125	rs2049361	G	A	395.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2049361;dbSNPBuildID=94;ANN=A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|21/52|c.2864-105C>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|13/44|c.1910-105C>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|22/54|n.3108-105C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4983;p3_1000G_AF=0.995008;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18262;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215865849;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:424,36,0
chr2	215001850	rs10169991	C	G	303.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10169991;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|20/52|c.2684-113G>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|12/44|c.1730-113G>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|21/54|n.2928-113G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5003;p3_1000G_AF=0.999002;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15771;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215866574;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:332,24,0
chr2	215010194	rs4673929	T	C	63.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.09;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4673929;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|18/52|c.2472+137A>G||||||,C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|10/44|c.1518+137A>G||||||,C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|19/54|n.2716+137A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16898;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215874918;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:91,9,0
chr2	215010241	rs6733264	G	T	245.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.72;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6733264;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|18/52|c.2472+90C>A||||||,T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|10/44|c.1518+90C>A||||||,T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|19/54|n.2716+90C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3587;p3_1000G_AF=0.716254;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=17315;p3_1000G_EAS_AF=0.9544;p3_1000G_EUR_AF=0.9155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215874965;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:274,24,0
chr2	215010527	rs1409607	A	T	240.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1409607;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|17/52|c.2333-57T>A||||||,T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|9/44|c.1379-57T>A||||||,T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|18/54|n.2577-57T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19334;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215875251;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:269,21,0
chr2	215011442	rs7560008;262824	A	T	585.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.63;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7560008;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|17/53|c.2329T>A|p.Ser777Thr|2549/9100|2329/7788|777/2595||,T|missense_variant|MODERATE|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|9/45|c.1375T>A|p.Ser459Thr|1534/8085|1375/6834|459/2277||,T|non_coding_transcript_exon_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|18/55|n.2573T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18430;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215876166;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4377,29;ESP6500_AA_AGE=32.6+/-62.9;ESP6500_AA_GTC=2174,29,0;ESP6500_CDS_SIZES=NM_173076.2:7788,NM_015657.3:6834;ESP6500_CG=-2.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=44;ESP6500_EA_AC=8598,0;ESP6500_EA_GTC=4299,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_173076.2:missense,NM_015657.3:missense;ESP6500_GL=ABCA12;ESP6500_GRCh38_POSITION=2:215011442;ESP6500_GS=58,58;ESP6500_GTC=6473,29,0;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_173076.2:c.2329T>A,NM_015657.3:c.1375T>A;ESP6500_HGVS_PROTEIN_VAR=NM_173076.2:p.(S777T),NM_015657.3:p.(S459T);ESP6500_MAF=0.0,0.6582,0.223;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12975,29;CLINVAR_ALLELEID=250553;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0007431,MedGen:C0079583|MedGen:CN169374;CLINVAR_CLNDN=Congenital_ichthyosiform_erythroderma|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.215011442A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27927|UniProtKB_(protein):Q86UK0#VAR_027445;CLINVAR_GENEINFO=ABCA12:26154;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7560008	GT:AD:DP:GQ:PL	1/1:0,22:22:66:614,66,0
chr2	215019264	rs1403835	T	C	606.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.94;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1403835;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|13/52|c.1657+72A>G||||||,C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|5/44|c.703+72A>G||||||,C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|14/54|n.1901+72A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18499;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215883988;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:635,57,0
chr2	215025588	rs2177423	A	G	114.1	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.52;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2177423;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|11/52|c.1287+85T>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|3/44|c.333+85T>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|12/54|n.1531+85T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=16849;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215890312;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:11:1|1:215025588_A_G:142,11,0
chr2	215025600	rs397949954;rs5838479	G	GT	105.06	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.27;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5838479;dbSNPBuildID=130,138;ANN=GT|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|11/52|c.1287+72dupA||||||,GT|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|3/44|c.333+72dupA||||||,GT|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|12/54|n.1531+72dupA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=23131;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215890324;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:11:1|1:215025588_A_G:142,11,0
chr2	215025628	rs5838480;rs796828852	GTT	G	250.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5838480;dbSNPBuildID=130,146;ANN=G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|11/52|c.1287+43_1287+44delAA||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding|3/44|c.333+43_333+44delAA||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|12/54|n.1531+43_1531+44delAA||||||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17263;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215890352;p3_1000G_GRCH37_REF=GTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3866,80,106;ESP6500_AA_GTC=1857,76,76,2,0,15;ESP6500_CDS_SIZES=NM_173076.2:7788,NM_173076.2:7788,NM_015657.3:6834,NM_015657.3:6834;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=20;ESP6500_EA_AC=7886,126,134;ESP6500_EA_GTC=3826,120,114,3,0,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173076.2:intron,NM_173076.2:intron,NM_015657.3:intron,NM_015657.3:intron;ESP6500_GL=ABCA12;ESP6500_GRCh38_POSITION=2:215025628;ESP6500_GTC=5683,196,190,5,0,25;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_173076.2:c.1287+44del1,NM_173076.2:c.1287+43_1287+44del2,NM_015657.3:c.333+44del1,NM_015657.3:c.333+43_333+44del2;ESP6500_MAF=3.1918,4.5903,3.6563;ESP6500_TAC=11752,206,240	GT:AD:DP:GQ:PL	1/1:0,8:8:24:288,24,0
chr2	215036868	rs1474331	A	G	295.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1474331;dbSNPBuildID=88;ANN=G|upstream_gene_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding||c.-4941T>C|||||4782|,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|8/52|c.985+85T>C||||||,G|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|9/54|n.1229+85T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1180;p3_1000G_AF=0.235623;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.2622;p3_1000G_AN=5008;p3_1000G_DP=17504;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.2058;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215901592;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:324,27,0
chr2	215037050	rs17501837;262834	C	T	473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17501837;dbSNPBuildID=123;ANN=T|synonymous_variant|LOW|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|8/53|c.888G>A|p.Val296Val|1108/9100|888/7788|296/2595||,T|upstream_gene_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_015657.3|protein_coding||c.-5123G>A|||||4964|,T|non_coding_transcript_exon_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|9/55|n.1132G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1119;p3_1000G_AF=0.223442;p3_1000G_AFR_AF=0.1354;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=17010;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.2058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215901774;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=658,3748;ESP6500_AA_AGE=279.6+/-274.9;ESP6500_AA_GTC=49,560,1594;ESP6500_CDS_SIZES=NM_173076.2:7788;ESP6500_CG=1.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=83;ESP6500_EA_AC=1810,6790;ESP6500_EA_AGE=325.5+/-317.0;ESP6500_EA_GTC=214,1382,2704;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173076.2:coding-synonymous;ESP6500_GL=ABCA12;ESP6500_GRCh38_POSITION=2:215037050;ESP6500_GTC=263,1942,4298;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173076.2:c.888G>A;ESP6500_HGVS_PROTEIN_VAR=NM_173076.2:p.(V296);ESP6500_MAF=21.0465,14.9342,18.9759;ESP6500_TAC=2468,10538;CLINVAR_AF_ESP=0.1898;CLINVAR_AF_EXAC=0.20572;CLINVAR_AF_TGP=0.2234;CLINVAR_ALLELEID=250557;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0007431,MedGen:C0079583|MedGen:CN169374;CLINVAR_CLNDN=Congenital_ichthyosiform_erythroderma|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.215037050C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27944;CLINVAR_GENEINFO=ABCA12:26154;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17501837	GT:AD:DP:GQ:PL	1/1:0,15:15:45:502,45,0
chr2	215054442	rs10194592	G	A	499.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10194592;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|4/52|c.409+131C>T||||||,A|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|4/54|n.629+131C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1504;p3_1000G_AF=0.300319;p3_1000G_AFR_AF=0.4213;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=19117;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215919166;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:528,48,0
chr2	215064249	rs1523721	G	C	1176.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.57;SOR=3.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1523721;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|2/52|c.164-30C>G||||||,C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|2/54|n.384-30C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3126;p3_1000G_AF=0.624201;p3_1000G_AFR_AF=0.8177;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=20205;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.5885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215928972;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3311,1095;ESP6500_AA_AGE=396.5+/-330.1;ESP6500_AA_GTC=1247,817,139;ESP6500_CDS_SIZES=NM_173076.2:7788;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=75;ESP6500_EA_AC=5053,3545;ESP6500_EA_AGE=515.7+/-378.7;ESP6500_EA_GTC=1497,2059,743;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173076.2:intron;ESP6500_GL=ABCA12;ESP6500_GRCh38_POSITION=2:215064249;ESP6500_GTC=2744,2876,882;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_173076.2:c.164-30C>G;ESP6500_MAF=41.2305,24.8525,35.6813;ESP6500_TAC=8364,4640	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1205,93,0
chr2	215075519	rs6711179	T	C	492.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=0.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6711179;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|2/52|c.164-11300A>G||||||,C|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|2/54|n.384-11300A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3814;p3_1000G_AF=0.761581;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=16842;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215940242;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:521,51,0
chr2	215111508	rs2948978	A	T	131.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.38;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2948978;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NM_173076.2|protein_coding|2/52|c.163+89T>A||||||,T|intron_variant|MODIFIER|ABCA12|ABCA12|transcript|NR_103740.1|pseudogene|2/54|n.383+89T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4833;p3_1000G_AF=0.965056;p3_1000G_AFR_AF=0.8737;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=15176;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=215976231;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:160,15,0
chr2	215311925	rs78631308	A	G	283.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.53;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78631308;dbSNPBuildID=130;ANN=G|upstream_gene_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding||c.-218A>G|||||31|,G|intergenic_region|MODIFIER|ABCA12-ATIC|ABCA12-ATIC|intergenic_region|ABCA12-ATIC|||n.215311925A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4822;p3_1000G_AF=0.962859;p3_1000G_AFR_AF=0.8654;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=9026;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216176648;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:312,27,0
chr2	215312084	rs4535042	T	G	91.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.133;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=1.922;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.59;ReadPosRankSum=0.118;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4535042;dbSNPBuildID=111;ANN=G|5_prime_UTR_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|1/16|c.-59T>G|||||59|;p3_1000G_AA=T|||;p3_1000G_AC=1226;p3_1000G_AF=0.244808;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=12993;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.2813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216176807;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,6:20:99:120,0,390
chr2	215318046	rs4672766	A	T	270.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.22;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672766;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|2/15|c.147-111A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15720;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216182769;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:215318046_A_T:299,21,0
chr2	215318047	rs75285060	C	T	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.579;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75285060;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|2/15|c.147-110C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1232;p3_1000G_AF=0.246006;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=15849;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.1978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216182770;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:99:0|1:215318046_A_T:128,0,107
chr2	215319759	rs16853782	A	G	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.311;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=4.193;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.719;SOR=0.416;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16853782;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|4/15|c.290+28A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1271;p3_1000G_AF=0.253794;p3_1000G_AFR_AF=0.1831;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=18139;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.1978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216184482;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=761,3645;ESP6500_AA_AGE=298.4+/-285.3;ESP6500_AA_GTC=71,619,1513;ESP6500_CDS_SIZES=NM_004044.6:1779;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=45;ESP6500_EA_AC=1744,6854;ESP6500_EA_AGE=313.3+/-311.2;ESP6500_EA_GTC=171,1402,2726;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004044.6:intron;ESP6500_GL=ATIC;ESP6500_GRCh38_POSITION=2:215319759;ESP6500_GTC=242,2021,4239;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004044.6:c.290+28A>G;ESP6500_MAF=20.2838,17.2719,19.2633;ESP6500_TAC=2505,10499	GT:AD:DP:GQ:PL	0/1:7,15:22:99:305,0,167
chr2	215325102	rs3772077	A	G	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.702;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.622;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=-0.065;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3772077;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|4/15|c.291-139A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1304;p3_1000G_AF=0.260383;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=18202;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216189825;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:11,5:16:99:0|1:215325102_A_G:142,0,650
chr2	215325122	rs3772078	A	G	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.43;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=0.324;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3772078;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|4/15|c.291-119A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1229;p3_1000G_AF=0.245407;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=18135;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216189845;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,5:19:99:0|1:215325102_A_G:166,0,726
chr2	215325297	rs2372536	C	G	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.71;ReadPosRankSum=-1.011;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2372536;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|ATIC|ATIC|transcript|NM_004044.6|protein_coding|5/16|c.347C>G|p.Thr116Ser|534/2084|347/1779|116/592||;p3_1000G_AA=C|||;p3_1000G_AC=1391;p3_1000G_AF=0.277756;p3_1000G_AFR_AF=0.062;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=13991;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.3161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216190020;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=424,3982;ESP6500_AA_AGE=205.2+/-227.1;ESP6500_AA_GTC=26,372,1805;ESP6500_CDS_SIZES=NM_004044.6:1779;ESP6500_CG=5.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=2786,5814;ESP6500_EA_AGE=441.9+/-359.9;ESP6500_EA_GTC=462,1862,1976;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004044.6:missense;ESP6500_GL=ATIC;ESP6500_GRCh38_POSITION=2:215325297;ESP6500_GS=58;ESP6500_GTC=488,2234,3781;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004044.6:c.347C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004044.6:p.(T116S);ESP6500_MAF=32.3953,9.6232,24.6809;ESP6500_PH=benign:0.001;ESP6500_TAC=3210,9796	GT:AD:DP:GQ:PL	0/1:14,4:18:99:113,0,399
chr2	215325968	rs2177737	A	C	868.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2177737;dbSNPBuildID=96;ANN=C|sequence_feature|LOW|ATIC|ATIC|helix:combinatorial_evidence_used_in_manual_assertion|NM_004044.6|protein_coding|5/15|c.380-19A>C||||||,C|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|5/15|c.380-19A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20870;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216190691;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4404,2;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=2201,2,0;ESP6500_CDS_SIZES=NM_004044.6:1779;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=61;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004044.6:intron;ESP6500_GL=ATIC;ESP6500_GRCh38_POSITION=2:215325968;ESP6500_GTC=6501,2,0;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_004044.6:c.380-19A>C;ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_TAC=13004,2	GT:AD:DP:GQ:PL	1/1:0,26:26:78:897,78,0
chr2	215326810	rs78562722	C	T	783.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.139;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.822;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.307;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78562722;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|6/15|c.532-12C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1227;p3_1000G_AF=0.245008;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=21442;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216191533;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=655,3751;ESP6500_AA_AGE=278.4+/-274.2;ESP6500_AA_GTC=54,547,1602;ESP6500_CDS_SIZES=NM_004044.6:1779;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=120;ESP6500_EA_AC=1748,6852;ESP6500_EA_AGE=316.8+/-312.9;ESP6500_EA_GTC=172,1404,2724;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004044.6:intron;ESP6500_GL=ATIC;ESP6500_GRCh38_POSITION=2:215326810;ESP6500_GTC=226,1951,4326;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004044.6:c.532-12C>T;ESP6500_MAF=20.3256,14.8661,18.4761;ESP6500_TAC=2403,10603	GT:AD:DP:GQ:PL	0/1:33,31:64:99:812,0,937
chr2	215333248	rs12995526	T	C	229.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12995526;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|8/15|c.815-102T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=19718;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.508;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216197971;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:258,21,0
chr2	215334802	rs12466139	T	C	251.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.599;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12466139;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|9/15|c.923-117T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1280;p3_1000G_AF=0.255591;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=14936;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216199525;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:280,0,328
chr2	215334828	rs10932608	T	A	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.01;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.39;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10932608;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|9/15|c.923-91T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1469;p3_1000G_AF=0.293331;p3_1000G_AFR_AF=0.3328;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=14988;p3_1000G_EAS_AF=0.4782;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216199551;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1779;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,11:24:99:333,0,357
chr2	215336184	rs13002576	C	G	603.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.75;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13002576;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|11/15|c.1098+60C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2611;p3_1000G_AF=0.521366;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=17298;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.5089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216200907;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:62:632,62,0
chr2	215344749	rs13010249	A	G	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.109;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.779;SOR=0.922;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13010249;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|12/15|c.1228-30A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1391;p3_1000G_AF=0.277756;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18021;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.3111;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216209472;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=435,3971;ESP6500_AA_AGE=209.5+/-230.2;ESP6500_AA_GTC=24,387,1792;ESP6500_CDS_SIZES=NM_004044.6:1779;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=64;ESP6500_EA_AC=2781,5819;ESP6500_EA_AGE=441.8+/-359.9;ESP6500_EA_GTC=460,1861,1979;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004044.6:intron;ESP6500_GL=ATIC;ESP6500_GRCh38_POSITION=2:215344749;ESP6500_GTC=484,2248,3771;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004044.6:c.1228-30A>G;ESP6500_MAF=32.3372,9.8729,24.727;ESP6500_TAC=3216,9790	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,21:39:99:0|1:215344749_A_G:499,0,458
chr2	215346989	rs10932609	A	T	698.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.38;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932609;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|14/15|c.1503+48A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21205;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216211712;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4404,2;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=2201,2,0;ESP6500_CDS_SIZES=NM_004044.6:1779;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=69;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004044.6:intron;ESP6500_GL=ATIC;ESP6500_GRCh38_POSITION=2:215346989;ESP6500_GTC=6501,2,0;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_004044.6:c.1503+48A>T;ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_TAC=13004,2	GT:AD:DP:GQ:PL	1/1:0,23:23:69:727,69,0
chr2	215349769	rs10498036	T	G	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-1.519;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10498036;dbSNPBuildID=119;ANN=G|3_prime_UTR_variant|MODIFIER|ATIC|ATIC|transcript|NM_004044.6|protein_coding|16/16|c.*114T>G|||||114|;p3_1000G_AA=T|||;p3_1000G_AC=2981;p3_1000G_AF=0.595248;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=20481;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216214492;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:170,0,183
chr2	215364969	rs11651	A	G	939.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.247;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.037;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.24;SOR=0.984;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11651;dbSNPBuildID=52;ANN=G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|44/46|c.7161T>C|p.Tyr2387Tyr|7427/8815|7161/7434|2387/2477||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|44/46|c.6795T>C|p.Tyr2265Tyr|7061/8449|6795/7068|2265/2355||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|42/44|c.6258T>C|p.Tyr2086Tyr|6524/7912|6258/6531|2086/2176||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|42/44|c.6618T>C|p.Tyr2206Tyr|6884/8272|6618/6891|2206/2296||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|44/46|c.6720T>C|p.Tyr2240Tyr|6986/8374|6720/6993|2240/2330||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|45/47|c.7068T>C|p.Tyr2356Tyr|7336/8724|7068/7341|2356/2446||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|43/45|c.6531T>C|p.Tyr2177Tyr|6799/8187|6531/6804|2177/2267||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|43/45|c.6525T>C|p.Tyr2175Tyr|6793/8181|6525/6798|2175/2265||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|43/45|c.6450T>C|p.Tyr2150Tyr|6718/8106|6450/6723|2150/2240||;p3_1000G_AA=A|||;p3_1000G_AC=1416;p3_1000G_AF=0.282748;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.3127;p3_1000G_AN=5008;p3_1000G_DP=23128;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.3141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216229692;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=445,3959;ESP6500_AA_GTC=25,395,1782;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=-8.3;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=112;ESP6500_EA_AC=2780,5816;ESP6500_EA_GTC=463,1854,1981;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:coding-synonymous,NM_212478.1:coding-synonymous,NM_212476.1:coding-synonymous,NM_212474.1:coding-synonymous,NM_002026.2:coding-synonymous;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215364969;ESP6500_GTC=488,2249,3763;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.7161T>C,NM_212478.1:c.6720T>C,NM_212476.1:c.6618T>C,NM_212474.1:c.6258T>C,NM_002026.2:c.6795T>C;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(Y2387),NM_212478.1:p.(Y2240),NM_212476.1:p.(Y2206),NM_212474.1:p.(Y2086),NM_002026.2:p.(Y2265);ESP6500_MAF=32.3406,10.1045,24.8077;ESP6500_TAC=3225,9775	GT:AD:DP:GQ:PL	0/1:22,37:59:99:968,0,497
chr2	215370366	rs1250209	C	T	1665.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1250209;dbSNPBuildID=87;ANN=T|missense_variant|MODERATE|FN1|FN1|transcript|NM_212482.2|protein_coding|41/46|c.6781G>A|p.Val2261Ile|7047/8815|6781/7434|2261/2477||,T|missense_variant|MODERATE|FN1|FN1|transcript|NM_002026.3|protein_coding|41/46|c.6415G>A|p.Val2139Ile|6681/8449|6415/7068|2139/2355||,T|missense_variant|MODERATE|FN1|FN1|transcript|NM_212474.2|protein_coding|39/44|c.5878G>A|p.Val1960Ile|6144/7912|5878/6531|1960/2176||,T|missense_variant|MODERATE|FN1|FN1|transcript|NM_212476.2|protein_coding|39/44|c.6238G>A|p.Val2080Ile|6504/8272|6238/6891|2080/2296||,T|missense_variant|MODERATE|FN1|FN1|transcript|NM_212478.2|protein_coding|41/46|c.6340G>A|p.Val2114Ile|6606/8374|6340/6993|2114/2330||,T|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306129.1|protein_coding|42/47|c.6688G>A|p.Val2230Ile|6956/8724|6688/7341|2230/2446||,T|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306130.1|protein_coding|40/45|c.6151G>A|p.Val2051Ile|6419/8187|6151/6804|2051/2267||,T|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306131.1|protein_coding|40/45|c.6145G>A|p.Val2049Ile|6413/8181|6145/6798|2049/2265||,T|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306132.1|protein_coding|40/45|c.6070G>A|p.Val2024Ile|6338/8106|6070/6723|2024/2240||;p3_1000G_AA=T|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16871;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216235089;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4404,2;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=2201,2,0;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=117;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_212482.1:missense,NM_212478.1:missense,NM_212476.1:missense,NM_212474.1:missense,NM_002026.2:missense;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215370366;ESP6500_GS=29,29,29,29,29;ESP6500_GTC=6501,2,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.6781G>A,NM_212478.1:c.6340G>A,NM_212476.1:c.6238G>A,NM_212474.1:c.5878G>A,NM_002026.2:c.6415G>A;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(V2261I),NM_212478.1:p.(V2114I),NM_212476.1:p.(V2080I),NM_212474.1:p.(V1960I),NM_002026.2:p.(V2139I);ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_PH=benign:0.022,benign:0.022,benign:0.022,benign:0.022,benign:0.022;ESP6500_TAC=13004,2	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1694,180,0
chr2	215371809	rs10804241	G	A	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.579;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0.431;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10804241;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|40/45|c.6714+100C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|40/45|c.6348+100C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|38/43|c.5811+100C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|38/43|c.6171+100C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|40/45|c.6273+100C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|41/46|c.6621+100C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|39/44|c.6084+100C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|39/44|c.6078+100C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|39/44|c.6003+100C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1656;p3_1000G_AF=0.330671;p3_1000G_AFR_AF=0.0802;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=15168;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216236532;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2526;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:112,0,178
chr2	215375403	rs3214672;rs71044591	AAC	A	313.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.737;SOR=0.358;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71044591,rs3214672;dbSNPBuildID=106,130;ANN=A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|37/45|c.5978-12_5978-11delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|36/45|c.5705-12_5705-11delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|35/43|c.5435-12_5435-11delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|35/43|c.5435-12_5435-11delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|36/45|c.5705-12_5705-11delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|37/46|c.5978-12_5978-11delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|36/44|c.5708-12_5708-11delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|35/44|c.5435-12_5435-11delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|35/44|c.5435-12_5435-11delGT||||||;p3_1000G_AC=1901;p3_1000G_AF=0.379593;p3_1000G_AFR_AF=0.2549;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=18941;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216240126;p3_1000G_GRCH37_REF=AAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=INDEL;ESP6500_AA_AC=1074,3192;ESP6500_AA_GTC=128,818,1187;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=5.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=37;ESP6500_EA_AC=1993,6261;ESP6500_EA_GTC=234,1525,2368;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215375403;ESP6500_GTC=362,2343,3555;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.5978-12_5978-11del2,NM_212478.1:c.5705-12_5705-11del2,NM_212476.1:c.5435-12_5435-11del2,NM_212474.1:c.5435-12_5435-11del2,NM_002026.2:c.5705-12_5705-11del2;ESP6500_MAF=24.1459,25.1758,24.4968;ESP6500_TAC=3067,9453	GT:AD:DP:GQ:PL	0/1:9,9:18:99:351,0,352
chr2	215375861	rs6707530	T	G	101.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.569;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=-0.179;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6707530;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|36/45|c.5888-143A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|35/45|c.5615-143A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|34/43|c.5345-143A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|34/43|c.5345-143A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|35/45|c.5615-143A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|36/46|c.5888-143A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|35/44|c.5618-143A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|34/44|c.5345-143A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|34/44|c.5345-143A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2081;p3_1000G_AF=0.415535;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=19722;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216240584;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:130,0,252
chr2	215378194	rs1132741	T	A	606.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.786;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.279;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1132741;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|35/46|c.5691A>T|p.Gly1897Gly|5957/8815|5691/7434|1897/2477||,A|synonymous_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|34/46|c.5418A>T|p.Gly1806Gly|5684/8449|5418/7068|1806/2355||,A|synonymous_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|33/44|c.5148A>T|p.Gly1716Gly|5414/7912|5148/6531|1716/2176||,A|synonymous_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|33/44|c.5148A>T|p.Gly1716Gly|5414/8272|5148/6891|1716/2296||,A|synonymous_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|34/46|c.5418A>T|p.Gly1806Gly|5684/8374|5418/6993|1806/2330||,A|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|35/47|c.5691A>T|p.Gly1897Gly|5959/8724|5691/7341|1897/2446||,A|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|34/45|c.5421A>T|p.Gly1807Gly|5689/8187|5421/6804|1807/2267||,A|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|33/45|c.5148A>T|p.Gly1716Gly|5416/8181|5148/6798|1716/2265||,A|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|33/45|c.5148A>T|p.Gly1716Gly|5416/8106|5148/6723|1716/2240||;p3_1000G_AA=T|||;p3_1000G_AC=1626;p3_1000G_AF=0.324681;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=15294;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216242917;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=400,4006;ESP6500_AA_AGE=200.1+/-223.5;ESP6500_AA_GTC=10,380,1813;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=-4.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=132;ESP6500_EA_AC=2070,6530;ESP6500_EA_AGE=360.9+/-332.1;ESP6500_EA_GTC=251,1568,2481;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:coding-synonymous,NM_212478.1:coding-synonymous,NM_212476.1:coding-synonymous,NM_212474.1:coding-synonymous,NM_002026.2:coding-synonymous;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215378194;ESP6500_GTC=261,1948,4294;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.5691A>T,NM_212478.1:c.5418A>T,NM_212476.1:c.5148A>T,NM_212474.1:c.5148A>T,NM_002026.2:c.5418A>T;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(G1897),NM_212478.1:p.(G1806),NM_212476.1:p.(G1716),NM_212474.1:p.(G1716),NM_002026.2:p.(G1806);ESP6500_MAF=24.0698,9.0785,18.9912;ESP6500_TAC=2470,10536	GT:AD:DP:GQ:PL	0/1:17,28:45:99:635,0,362
chr2	215379109	rs1250204	T	C	1153.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1250204;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|34/45|c.5622+21A>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|33/45|c.5349+21A>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|32/43|c.5079+21A>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|32/43|c.5079+21A>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|33/45|c.5349+21A>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|34/46|c.5622+21A>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|33/44|c.5352+21A>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|32/44|c.5079+21A>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|32/44|c.5079+21A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=4695;p3_1000G_AF=0.9375;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.964;p3_1000G_AN=5008;p3_1000G_DP=20218;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216243832;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9397;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3879,527;ESP6500_AA_AGE=777.7+/-414.2;ESP6500_AA_GTC=1709,461,33;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=87;ESP6500_EA_AC=8205,395;ESP6500_EA_AGE=801.9+/-407.4;ESP6500_EA_GTC=3910,385,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215379109;ESP6500_GTC=5619,846,38;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.5622+21A>G,NM_212478.1:c.5349+21A>G,NM_212476.1:c.5079+21A>G,NM_212474.1:c.5079+21A>G,NM_002026.2:c.5349+21A>G;ESP6500_MAF=4.593,11.961,7.089;ESP6500_TAC=12084,922	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1182,111,0
chr2	215379131	rs199684110	A	G	567.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.938;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=4.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.422;SOR=0.207;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199684110;dbSNPBuildID=137;ANN=G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_212482.2|protein_coding|34/46|c.5621T>C|p.Met1874Thr|5887/8815|5621/7434|1874/2477||,G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_002026.3|protein_coding|33/46|c.5348T>C|p.Met1783Thr|5614/8449|5348/7068|1783/2355||,G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_212474.2|protein_coding|32/44|c.5078T>C|p.Met1693Thr|5344/7912|5078/6531|1693/2176||,G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_212476.2|protein_coding|32/44|c.5078T>C|p.Met1693Thr|5344/8272|5078/6891|1693/2296||,G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_212478.2|protein_coding|33/46|c.5348T>C|p.Met1783Thr|5614/8374|5348/6993|1783/2330||,G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_001306129.1|protein_coding|34/47|c.5621T>C|p.Met1874Thr|5889/8724|5621/7341|1874/2446||,G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_001306130.1|protein_coding|33/45|c.5351T>C|p.Met1784Thr|5619/8187|5351/6804|1784/2267||,G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_001306131.1|protein_coding|32/45|c.5078T>C|p.Met1693Thr|5346/8181|5078/6798|1693/2265||,G|missense_variant&splice_region_variant|MODERATE|FN1|FN1|transcript|NM_001306132.1|protein_coding|32/45|c.5078T>C|p.Met1693Thr|5346/8106|5078/6723|1693/2240||;p3_1000G_AA=A|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20081;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216243854;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,24:48:99:596,0,596
chr2	215380669	rs3732355	C	T	305.56	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.553;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.78;ReadPosRankSum=1.55;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732355;dbSNPBuildID=107;ANN=T|sequence_feature|LOW|FN1|FN1|miscellaneous-region:Heparin-binding_2|NM_212482.2|protein_coding|33/45|c.5434+142G>A||||||,T|sequence_feature|LOW|FN1|FN1|miscellaneous-region:Heparin-binding_2|NM_002026.3|protein_coding|32/45|c.5161+142G>A||||||,T|sequence_feature|LOW|FN1|FN1|miscellaneous-region:Heparin-binding_2|NM_212478.2|protein_coding|32/45|c.5161+142G>A||||||,T|sequence_feature|LOW|FN1|FN1|miscellaneous-region:Heparin-binding_2|NM_001306129.1|protein_coding|33/46|c.5434+142G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|33/45|c.5434+142G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|32/45|c.5161+142G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|31/43|c.4892-1352G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|31/43|c.4892-1352G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|32/45|c.5161+142G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|33/46|c.5434+142G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|32/44|c.5165-1352G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|31/44|c.4892-1352G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|31/44|c.4892-1352G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1878;p3_1000G_AF=0.375;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=20317;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216245392;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,10:11:7:333,0,7
chr2	215383582	rs1250203	G	T	339.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1250203;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|30/45|c.4895-99C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|29/45|c.4622-99C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|29/43|c.4622-99C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|29/43|c.4622-99C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|29/45|c.4622-99C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|30/46|c.4895-99C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|30/44|c.4895-99C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|29/44|c.4622-99C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|29/44|c.4622-99C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4144;p3_1000G_AF=0.827476;p3_1000G_AFR_AF=0.6059;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=21038;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216248305;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:368,33,0
chr2	215383984	rs35639338;rs796905613	TAA	T	843.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.064;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.44;ReadPosRankSum=-0.615;SOR=0.957;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35639338;dbSNPBuildID=137,146;ANN=T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|30/45|c.4894+34_4894+35delTT||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|29/45|c.4621+34_4621+35delTT||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|29/43|c.4621+34_4621+35delTT||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|29/43|c.4621+34_4621+35delTT||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|29/45|c.4621+34_4621+35delTT||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|30/46|c.4894+34_4894+35delTT||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|30/44|c.4894+34_4894+35delTT||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|29/44|c.4621+34_4621+35delTT||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|29/44|c.4621+34_4621+35delTT||||||;p3_1000G_AC=1872;p3_1000G_AF=0.373802;p3_1000G_AFR_AF=0.2352;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=21319;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216248707;p3_1000G_GRCH37_REF=TAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=INDEL;ESP6500_AA_AC=1015,3251;ESP6500_AA_GTC=123,769,1241;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=76;ESP6500_EA_AC=1988,6266;ESP6500_EA_GTC=235,1518,2374;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215383984;ESP6500_GTC=358,2287,3615;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.4894+34_4894+35del2,NM_212478.1:c.4621+34_4621+35del2,NM_212476.1:c.4621+34_4621+35del2,NM_212474.1:c.4621+34_4621+35del2,NM_002026.2:c.4621+34_4621+35del2;ESP6500_MAF=24.0853,23.7928,23.9856;ESP6500_TAC=3003,9517	GT:AD:DP:GQ:PL	0/1:14,22:36:99:881,0,516
chr2	215384864	rs13652	C	T	611.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.59;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13652;dbSNPBuildID=52;ANN=T|synonymous_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|29/46|c.4725G>A|p.Glu1575Glu|4991/8815|4725/7434|1575/2477||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|28/46|c.4452G>A|p.Glu1484Glu|4718/8449|4452/7068|1484/2355||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|28/44|c.4452G>A|p.Glu1484Glu|4718/7912|4452/6531|1484/2176||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|28/44|c.4452G>A|p.Glu1484Glu|4718/8272|4452/6891|1484/2296||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|28/46|c.4452G>A|p.Glu1484Glu|4718/8374|4452/6993|1484/2330||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|29/47|c.4725G>A|p.Glu1575Glu|4993/8724|4725/7341|1575/2446||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|29/45|c.4725G>A|p.Glu1575Glu|4993/8187|4725/6804|1575/2267||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|28/45|c.4452G>A|p.Glu1484Glu|4720/8181|4452/6798|1484/2265||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|28/45|c.4452G>A|p.Glu1484Glu|4720/8106|4452/6723|1484/2240||;p3_1000G_AA=T|||;p3_1000G_AC=4350;p3_1000G_AF=0.86861;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=15445;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216249587;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3541,865;ESP6500_AA_AGE=338.9+/-305.5;ESP6500_AA_GTC=1424,693,86;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=62;ESP6500_EA_AC=7505,1095;ESP6500_EA_AGE=228.0+/-263.2;ESP6500_EA_GTC=3267,971,62;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:coding-synonymous,NM_212478.1:coding-synonymous,NM_212476.1:coding-synonymous,NM_212474.1:coding-synonymous,NM_002026.2:coding-synonymous;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215384864;ESP6500_GTC=4691,1664,148;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.4725G>A,NM_212478.1:c.4452G>A,NM_212476.1:c.4452G>A,NM_212474.1:c.4452G>A,NM_002026.2:c.4452G>A;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(E1575),NM_212478.1:p.(E1484),NM_212476.1:p.(E1484),NM_212474.1:p.(E1484),NM_002026.2:p.(E1484);ESP6500_MAF=12.7326,19.6323,15.07;ESP6500_TAC=11046,1960	GT:AD:DP:GQ:PL	1/1:0,20:20:60:640,60,0
chr2	215386974	rs35343655	G	A	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.302;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-0.444;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35343655;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|27/45|c.4343-16C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|26/45|c.4070-16C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|26/43|c.4070-16C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|26/43|c.4070-16C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|26/45|c.4070-16C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|27/46|c.4343-16C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|27/44|c.4343-16C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|26/44|c.4070-16C>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|26/44|c.4070-16C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1871;p3_1000G_AF=0.373602;p3_1000G_AFR_AF=0.2345;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=18303;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216251697;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1057,3349;ESP6500_AA_AGE=712.7+/-408.2;ESP6500_AA_GTC=131,795,1277;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=29;ESP6500_EA_AC=2062,6538;ESP6500_EA_AGE=700.5+/-405.2;ESP6500_EA_GTC=251,1560,2489;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215386974;ESP6500_GTC=382,2355,3766;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.4343-16C>T,NM_212478.1:c.4070-16C>T,NM_212476.1:c.4070-16C>T,NM_212474.1:c.4070-16C>T,NM_002026.2:c.4070-16C>T;ESP6500_MAF=23.9767,23.99,23.9812;ESP6500_TAC=3119,9887	GT:AD:DP:GQ:PL	0/1:9,7:16:99:157,0,313
chr2	215388316	rs1250215	G	C	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.659;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=6.246;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.55;ReadPosRankSum=-1.145;SOR=1.964;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1250215;dbSNPBuildID=87;ANN=C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|26/45|c.4253-15C>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|25/45|c.3980-15C>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|25/43|c.3980-15C>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|25/43|c.3980-15C>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|25/45|c.3980-15C>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|26/46|c.4253-15C>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|26/44|c.4253-15C>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|25/44|c.3980-15C>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|25/44|c.3980-15C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2062;p3_1000G_AF=0.411741;p3_1000G_AFR_AF=0.2458;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=20468;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.6272;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216253039;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1403,3003;ESP6500_AA_AGE=459.2+/-352.2;ESP6500_AA_GTC=225,953,1025;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=84;ESP6500_EA_AC=5414,3186;ESP6500_EA_AGE=652.2+/-400.9;ESP6500_EA_GTC=1710,1994,596;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215388316;ESP6500_GTC=1935,2947,1621;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.4253-15C>G,NM_212478.1:c.3980-15C>G,NM_212476.1:c.3980-15C>G,NM_212474.1:c.3980-15C>G,NM_002026.2:c.3980-15C>G;ESP6500_MAF=37.0465,31.8429,47.5857;ESP6500_TAC=6817,6189	GT:AD:DP:GQ:PL	0/1:29,9:38:99:163,0,812
chr2	215397898	rs6725958	A	C	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.02;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-1.114;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6725958;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|21/45|c.3349-50T>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|21/45|c.3349-50T>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|21/43|c.3349-50T>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|21/43|c.3349-50T>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|21/45|c.3349-50T>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|21/46|c.3349-50T>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|21/44|c.3349-50T>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|21/44|c.3349-50T>G||||||,C|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|21/44|c.3349-50T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3276;p3_1000G_AF=0.654153;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=20130;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.5775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216262621;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2849,1557;ESP6500_AA_AGE=484.2+/-360.0;ESP6500_AA_GTC=925,999,279;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=38;ESP6500_EA_AC=4824,3776;ESP6500_EA_AGE=530.3+/-381.8;ESP6500_EA_GTC=1339,2146,815;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215397898;ESP6500_GTC=2264,3145,1094;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.3349-50T>G,NM_212478.1:c.3349-50T>G,NM_212476.1:c.3349-50T>G,NM_212474.1:c.3349-50T>G,NM_002026.2:c.3349-50T>G;ESP6500_MAF=43.907,35.3382,41.0042;ESP6500_TAC=7673,5333	GT:AD:DP:GQ:PL	0/1:12,12:24:99:403,0,342
chr2	215399203	rs2692224	C	A	635.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.509;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.206;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.023;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2692224;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|21/45|c.3348+54G>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|21/45|c.3348+54G>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|21/43|c.3348+54G>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|21/43|c.3348+54G>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|21/45|c.3348+54G>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|21/46|c.3348+54G>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|21/44|c.3348+54G>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|21/44|c.3348+54G>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|21/44|c.3348+54G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3089;p3_1000G_AF=0.616813;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=20123;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.5765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216263926;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=782,602;ESP6500_AA_GTC=217,348,127;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=62;ESP6500_EA_AC=1744,1438;ESP6500_EA_GTC=471,802,318;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215399203;ESP6500_GTC=688,1150,445;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.3348+54G>T,NM_212478.1:c.3348+54G>T,NM_212476.1:c.3348+54G>T,NM_212474.1:c.3348+54G>T,NM_002026.2:c.3348+54G>T;ESP6500_MAF=45.1917,43.4971,44.6781;ESP6500_TAC=2526,2040	GT:AD:DP:GQ:PL	0/1:22,23:45:99:664,0,580
chr2	215399215	rs3832178;rs397708033	C	CT	818.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.022;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.418;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-0.397;SOR=0.37;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3832178;dbSNPBuildID=107,138;ANN=CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|21/45|c.3348+41dupA||||||,CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|21/45|c.3348+41dupA||||||,CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|21/43|c.3348+41dupA||||||,CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|21/43|c.3348+41dupA||||||,CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|21/45|c.3348+41dupA||||||,CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|21/46|c.3348+41dupA||||||,CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|21/44|c.3348+41dupA||||||,CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|21/44|c.3348+41dupA||||||,CT|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|21/44|c.3348+41dupA||||||;p3_1000G_AA=?|T|TT|unsure;p3_1000G_AC=3090;p3_1000G_AF=0.617013;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=20009;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.5765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216263938;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=INDEL;ESP6500_AA_AC=2359,1907;ESP6500_AA_GTC=659,1041,433;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=84;ESP6500_EA_AC=4625,3629;ESP6500_EA_GTC=1277,2071,779;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215399215;ESP6500_GTC=1936,3112,1212;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.3348+41_3348+42insA,NM_212478.1:c.3348+41_3348+42insA,NM_212476.1:c.3348+41_3348+42insA,NM_212474.1:c.3348+41_3348+42insA,NM_002026.2:c.3348+41_3348+42insA;ESP6500_MAF=43.9666,44.7023,44.2173;ESP6500_TAC=6984,5536	GT:AD:DP:GQ:PL	0/1:24,27:51:99:856,0,746
chr2	215404307	rs56381916;rs141299607	T	TTTTTTG	103.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=0.592;SOR=2.215;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|20/45|c.3253+81_3253+82insCAAAAA||||||,TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|20/45|c.3253+81_3253+82insCAAAAA||||||,TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|20/43|c.3253+81_3253+82insCAAAAA||||||,TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|20/43|c.3253+81_3253+82insCAAAAA||||||,TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|20/45|c.3253+81_3253+82insCAAAAA||||||,TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|20/46|c.3253+81_3253+82insCAAAAA||||||,TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|20/44|c.3253+81_3253+82insCAAAAA||||||,TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|20/44|c.3253+81_3253+82insCAAAAA||||||,TTTTTTG|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|20/44|c.3253+81_3253+82insCAAAAA||||||;p3_1000G_AC=1256;p3_1000G_AF=0.250799;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs531631646,rs531631646;p3_1000G_DP=22988;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.335;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216269030;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,4:13:99:0|1:215404307_T_TTTTTTG:141,0,366
chr2	215404308	rs7575551	G	T	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.466;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.14;ReadPosRankSum=-0.669;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7575551;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|20/45|c.3253+81C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|20/45|c.3253+81C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|20/43|c.3253+81C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|20/43|c.3253+81C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|20/45|c.3253+81C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|20/46|c.3253+81C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|20/44|c.3253+81C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|20/44|c.3253+81C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|20/44|c.3253+81C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2040;p3_1000G_AF=0.407348;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=18365;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.2724;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216269031;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,9:13:99:0|1:215404308_G_T:355,0,141
chr2	215404310	rs72943909;rs377193194	T	G	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.004;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.14;ReadPosRankSum=-0.974;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72943909;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|20/45|c.3253+79A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|20/45|c.3253+79A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|20/43|c.3253+79A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|20/43|c.3253+79A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|20/45|c.3253+79A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|20/46|c.3253+79A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|20/44|c.3253+79A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|20/44|c.3253+79A>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|20/44|c.3253+79A>C||||||;p3_1000G_AC=1936;p3_1000G_AF=0.386581;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=18609;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216269033;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2679;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,9:13:99:0|1:215404308_G_T:355,0,141
chr2	215404323	rs56380797	G	T	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.735;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56380797;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|20/45|c.3253+66C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|20/45|c.3253+66C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|20/43|c.3253+66C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|20/43|c.3253+66C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|20/45|c.3253+66C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|20/46|c.3253+66C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|20/44|c.3253+66C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|20/44|c.3253+66C>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|20/44|c.3253+66C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1437;p3_1000G_AF=0.286941;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=18217;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.3787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216269046;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,5:15:99:0|1:215404307_T_TTTTTTG:169,0,403
chr2	215404372	rs13306359	C	T	439.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.901;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=9.868;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-0.279;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13306359;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|20/45|c.3253+17G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|20/45|c.3253+17G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|20/43|c.3253+17G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|20/43|c.3253+17G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|20/45|c.3253+17G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|20/46|c.3253+17G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|20/44|c.3253+17G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|20/44|c.3253+17G>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|20/44|c.3253+17G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1437;p3_1000G_AF=0.286941;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=19161;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.3787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216269095;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1043,3363;ESP6500_AA_AGE=725.1+/-409.6;ESP6500_AA_GTC=122,799,1282;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=71;ESP6500_EA_AC=3455,5145;ESP6500_EA_AGE=632.8+/-398.7;ESP6500_EA_GTC=687,2081,1532;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215404372;ESP6500_GTC=809,2880,2814;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.3253+17G>A,NM_212478.1:c.3253+17G>A,NM_212476.1:c.3253+17G>A,NM_212474.1:c.3253+17G>A,NM_002026.2:c.3253+17G>A;ESP6500_MAF=40.1744,23.6723,34.584;ESP6500_TAC=4498,8508	GT:AD:DP:GQ:PL	0/1:12,16:28:99:468,0,348
chr2	215404486	rs1053238	T	G	734.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.52;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-1.051;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1053238;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|20/46|c.3156A>C|p.Pro1052Pro|3422/8815|3156/7434|1052/2477||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|20/46|c.3156A>C|p.Pro1052Pro|3422/8449|3156/7068|1052/2355||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|20/44|c.3156A>C|p.Pro1052Pro|3422/7912|3156/6531|1052/2176||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|20/44|c.3156A>C|p.Pro1052Pro|3422/8272|3156/6891|1052/2296||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|20/46|c.3156A>C|p.Pro1052Pro|3422/8374|3156/6993|1052/2330||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|20/47|c.3156A>C|p.Pro1052Pro|3424/8724|3156/7341|1052/2446||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|20/45|c.3156A>C|p.Pro1052Pro|3424/8187|3156/6804|1052/2267||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|20/45|c.3156A>C|p.Pro1052Pro|3424/8181|3156/6798|1052/2265||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|20/45|c.3156A>C|p.Pro1052Pro|3424/8106|3156/6723|1052/2240||;p3_1000G_AA=T|||;p3_1000G_AC=1436;p3_1000G_AF=0.286741;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=15653;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.3777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216269209;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1041,3365;ESP6500_AA_AGE=382.1+/-324.3;ESP6500_AA_GTC=122,797,1284;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=-9.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=100;ESP6500_EA_AC=3462,5138;ESP6500_EA_AGE=507.5+/-376.8;ESP6500_EA_GTC=689,2084,1527;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:coding-synonymous,NM_212478.1:coding-synonymous,NM_212476.1:coding-synonymous,NM_212474.1:coding-synonymous,NM_002026.2:coding-synonymous;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215404486;ESP6500_GTC=811,2881,2811;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.3156A>C,NM_212478.1:c.3156A>C,NM_212476.1:c.3156A>C,NM_212474.1:c.3156A>C,NM_002026.2:c.3156A>C;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(P1052),NM_212478.1:p.(P1052),NM_212476.1:p.(P1052),NM_212474.1:p.(P1052),NM_002026.2:p.(P1052);ESP6500_MAF=40.2558,23.6269,34.6225;ESP6500_TAC=4503,8503	GT:AD:DP:GQ:PL	0/1:21,28:49:99:763,0,495
chr2	215404531	rs7589580	T	G	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.708;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.57;SOR=1.135;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7589580;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|20/46|c.3111A>C|p.Gly1037Gly|3377/8815|3111/7434|1037/2477||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|20/46|c.3111A>C|p.Gly1037Gly|3377/8449|3111/7068|1037/2355||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|20/44|c.3111A>C|p.Gly1037Gly|3377/7912|3111/6531|1037/2176||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|20/44|c.3111A>C|p.Gly1037Gly|3377/8272|3111/6891|1037/2296||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|20/46|c.3111A>C|p.Gly1037Gly|3377/8374|3111/6993|1037/2330||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|20/47|c.3111A>C|p.Gly1037Gly|3379/8724|3111/7341|1037/2446||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|20/45|c.3111A>C|p.Gly1037Gly|3379/8187|3111/6804|1037/2267||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|20/45|c.3111A>C|p.Gly1037Gly|3379/8181|3111/6798|1037/2265||,G|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|20/45|c.3111A>C|p.Gly1037Gly|3379/8106|3111/6723|1037/2240||;p3_1000G_AA=G|||;p3_1000G_AC=1437;p3_1000G_AF=0.286941;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=15705;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.3787;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216269254;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1041,3365;ESP6500_AA_AGE=726.3+/-409.7;ESP6500_AA_GTC=121,799,1283;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=108;ESP6500_EA_AC=3462,5138;ESP6500_EA_AGE=636.5+/-399.1;ESP6500_EA_GTC=689,2084,1527;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:coding-synonymous,NM_212478.1:coding-synonymous,NM_212476.1:coding-synonymous,NM_212474.1:coding-synonymous,NM_002026.2:coding-synonymous;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215404531;ESP6500_GTC=810,2883,2810;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.3111A>C,NM_212478.1:c.3111A>C,NM_212476.1:c.3111A>C,NM_212474.1:c.3111A>C,NM_002026.2:c.3111A>C;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(G1037),NM_212478.1:p.(G1037),NM_212476.1:p.(G1037),NM_212474.1:p.(G1037),NM_002026.2:p.(G1037);ESP6500_MAF=40.2558,23.6269,34.6225;ESP6500_TAC=4503,8503	GT:AD:DP:GQ:PL	0/1:21,24:45:99:638,0,536
chr2	215407089	rs7592898	A	T	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.568;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=2.08;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7592898;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|18/45|c.2713+38T>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|18/45|c.2713+38T>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|18/43|c.2713+38T>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|18/43|c.2713+38T>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|18/45|c.2713+38T>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|18/46|c.2713+38T>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|18/44|c.2713+38T>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|18/44|c.2713+38T>A||||||,T|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|18/44|c.2713+38T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1386;p3_1000G_AF=0.276757;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=19213;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.3738;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216271812;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=939,3467;ESP6500_AA_AGE=344.4+/-308.1;ESP6500_AA_GTC=101,737,1365;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=55;ESP6500_EA_AC=3384,5216;ESP6500_EA_AGE=497.3+/-374.5;ESP6500_EA_GTC=663,2058,1579;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215407089;ESP6500_GTC=764,2795,2944;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.2713+38T>A,NM_212478.1:c.2713+38T>A,NM_212476.1:c.2713+38T>A,NM_212474.1:c.2713+38T>A,NM_002026.2:c.2713+38T>A;ESP6500_MAF=39.3488,21.3118,33.2385;ESP6500_TAC=4323,8683	GT:AD:DP:GQ:PL	0/1:11,16:27:99:488,0,324
chr2	215408096	rs7570208	C	G	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.27;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.244;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7570208;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|17/45|c.2518+12G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|17/45|c.2518+12G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|17/43|c.2518+12G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|17/43|c.2518+12G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|17/45|c.2518+12G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|17/46|c.2518+12G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|17/44|c.2518+12G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|17/44|c.2518+12G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|17/44|c.2518+12G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3335;p3_1000G_AF=0.665935;p3_1000G_AFR_AF=0.6914;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=17513;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.5815;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216272819;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2986,1420;ESP6500_AA_AGE=462.8+/-353.4;ESP6500_AA_GTC=1018,950,235;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=4906,3694;ESP6500_EA_AGE=526.8+/-381.0;ESP6500_EA_GTC=1389,2128,783;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215408096;ESP6500_GTC=2407,3078,1018;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.2518+12G>C,NM_212478.1:c.2518+12G>C,NM_212476.1:c.2518+12G>C,NM_212474.1:c.2518+12G>C,NM_002026.2:c.2518+12G>C;ESP6500_MAF=42.9535,32.2288,39.3203;ESP6500_TAC=7892,5114	GT:AD:DP:GQ:PL	0/1:14,10:24:99:315,0,408
chr2	215408177	rs2577301	T	G	1948.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.21;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2577301;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|FN1|FN1|transcript|NM_212482.2|protein_coding|17/46|c.2449A>C|p.Thr817Pro|2715/8815|2449/7434|817/2477||,G|missense_variant|MODERATE|FN1|FN1|transcript|NM_002026.3|protein_coding|17/46|c.2449A>C|p.Thr817Pro|2715/8449|2449/7068|817/2355||,G|missense_variant|MODERATE|FN1|FN1|transcript|NM_212474.2|protein_coding|17/44|c.2449A>C|p.Thr817Pro|2715/7912|2449/6531|817/2176||,G|missense_variant|MODERATE|FN1|FN1|transcript|NM_212476.2|protein_coding|17/44|c.2449A>C|p.Thr817Pro|2715/8272|2449/6891|817/2296||,G|missense_variant|MODERATE|FN1|FN1|transcript|NM_212478.2|protein_coding|17/46|c.2449A>C|p.Thr817Pro|2715/8374|2449/6993|817/2330||,G|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306129.1|protein_coding|17/47|c.2449A>C|p.Thr817Pro|2717/8724|2449/7341|817/2446||,G|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306130.1|protein_coding|17/45|c.2449A>C|p.Thr817Pro|2717/8187|2449/6804|817/2267||,G|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306131.1|protein_coding|17/45|c.2449A>C|p.Thr817Pro|2717/8181|2449/6798|817/2265||,G|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306132.1|protein_coding|17/45|c.2449A>C|p.Thr817Pro|2717/8106|2449/6723|817/2240||;p3_1000G_AA=G|||;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16734;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216272900;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4405,1;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=2202,1,0;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=5.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_212482.1:missense,NM_212478.1:missense,NM_212476.1:missense,NM_212474.1:missense,NM_002026.2:missense;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215408177;ESP6500_GS=38,38,38,38,38;ESP6500_GTC=6502,1,0;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.2449A>C,NM_212478.1:c.2449A>C,NM_212476.1:c.2449A>C,NM_212474.1:c.2449A>C,NM_002026.2:c.2449A>C;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(T817P),NM_212478.1:p.(T817P),NM_212476.1:p.(T817P),NM_212474.1:p.(T817P),NM_002026.2:p.(T817P);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=13005,1	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1977,144,0
chr2	215408184	rs7596677	A	T	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.558;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.03;SOR=0.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7596677;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|17/46|c.2442T>A|p.Pro814Pro|2708/8815|2442/7434|814/2477||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|17/46|c.2442T>A|p.Pro814Pro|2708/8449|2442/7068|814/2355||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|17/44|c.2442T>A|p.Pro814Pro|2708/7912|2442/6531|814/2176||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|17/44|c.2442T>A|p.Pro814Pro|2708/8272|2442/6891|814/2296||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|17/46|c.2442T>A|p.Pro814Pro|2708/8374|2442/6993|814/2330||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|17/47|c.2442T>A|p.Pro814Pro|2710/8724|2442/7341|814/2446||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|17/45|c.2442T>A|p.Pro814Pro|2710/8187|2442/6804|814/2267||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|17/45|c.2442T>A|p.Pro814Pro|2710/8181|2442/6798|814/2265||,T|synonymous_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|17/45|c.2442T>A|p.Pro814Pro|2710/8106|2442/6723|814/2240||;p3_1000G_AA=A|||;p3_1000G_AC=2111;p3_1000G_AF=0.421526;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=16534;p3_1000G_EAS_AF=0.9306;p3_1000G_EUR_AF=0.2783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216272907;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1011,3395;ESP6500_AA_AGE=375.6+/-321.7;ESP6500_AA_GTC=111,789,1303;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_002026.2:7068;ESP6500_CG=-1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=74;ESP6500_EA_AC=2269,6331;ESP6500_EA_AGE=385.2+/-341.4;ESP6500_EA_GTC=289,1691,2320;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:coding-synonymous,NM_212478.1:coding-synonymous,NM_212476.1:coding-synonymous,NM_212474.1:coding-synonymous,NM_002026.2:coding-synonymous;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215408184;ESP6500_GTC=400,2480,3623;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.2442T>A,NM_212478.1:c.2442T>A,NM_212476.1:c.2442T>A,NM_212474.1:c.2442T>A,NM_002026.2:c.2442T>A;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(P814),NM_212478.1:p.(P814),NM_212476.1:p.(P814),NM_212474.1:p.(P814),NM_002026.2:p.(P814);ESP6500_MAF=26.3837,22.946,25.2191;ESP6500_TAC=3280,9726	GT:AD:DP:GQ:PL	0/1:21,27:48:99:654,0,627
chr2	215410130	rs1491290707;rs397987770;rs549405138;rs796781337	AAC	A	813.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.14;SOR=2.066;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5838511,rs5838512,rs370303960;dbSNPBuildID=146,142,151,138;ANN=A|downstream_gene_variant|MODIFIER|FN1|FN1|transcript|NM_054034.2|protein_coding||c.*4672_*4673delGT|||||4530|,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|13/45|c.1942-18_1942-17delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|13/45|c.1942-18_1942-17delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|13/43|c.1942-18_1942-17delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|13/43|c.1942-18_1942-17delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|13/45|c.1942-18_1942-17delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|13/46|c.1942-18_1942-17delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|13/44|c.1942-18_1942-17delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|13/44|c.1942-18_1942-17delGT||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|13/44|c.1942-18_1942-17delGT||||||	GT:AD:DP:GQ:PL	1/0:0,7:7:99:851,679,849
chr2	215410130	rs71399200	AAC	AACAC	813.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.14;SOR=2.066;INS;HET;VARTYPE=INS;dbSNPBuildID=132;ANN=AACAC|downstream_gene_variant|MODIFIER|FN1|FN1|transcript|NM_054034.2|protein_coding||c.*4670_*4671dupGT|||||4528|,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|13/45|c.1942-20_1942-19dupGT||||||,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|13/45|c.1942-20_1942-19dupGT||||||,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|13/43|c.1942-20_1942-19dupGT||||||,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|13/43|c.1942-20_1942-19dupGT||||||,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|13/45|c.1942-20_1942-19dupGT||||||,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|13/46|c.1942-20_1942-19dupGT||||||,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|13/44|c.1942-20_1942-19dupGT||||||,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|13/44|c.1942-20_1942-19dupGT||||||,AACAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|13/44|c.1942-20_1942-19dupGT||||||	GT:AD:DP:GQ:PL	0/1:0,20:20:99:851,243,231
chr2	215419235	rs3796123	T	A	839.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3796123;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|12/45|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|12/45|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|12/43|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|12/43|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|12/45|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|12/46|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|12/44|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|12/44|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|12/44|c.1819+7A>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_054034.2|protein_coding|12/12|c.1819+7A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2061;p3_1000G_AF=0.411542;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=16328;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216283958;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1018,3388;ESP6500_AA_AGE=377.8+/-322.6;ESP6500_AA_GTC=115,788,1300;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_054034.2:1974,NM_002026.2:7068;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=87;ESP6500_EA_AC=2044,6556;ESP6500_EA_AGE=357.6+/-330.8;ESP6500_EA_GTC=232,1580,2488;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_054034.2:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215419235;ESP6500_GTC=347,2368,3788;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.1819+7A>T,NM_212478.1:c.1819+7A>T,NM_212476.1:c.1819+7A>T,NM_212474.1:c.1819+7A>T,NM_054034.2:c.1819+7A>T,NM_002026.2:c.1819+7A>T;ESP6500_MAF=23.7674,23.1049,23.543;ESP6500_TAC=3062,9944	GT:AD:DP:GQ:PL	1/1:0,28:28:84:868,84,0
chr2	215422370	rs1250248	A	G	838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1250248;dbSNPBuildID=87;ANN=G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_212482.2|protein_coding|9/45|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_002026.3|protein_coding|9/45|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_212474.2|protein_coding|9/43|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_212476.2|protein_coding|9/43|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_212478.2|protein_coding|9/45|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001306129.1|protein_coding|9/46|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001306130.1|protein_coding|9/44|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001306131.1|protein_coding|9/44|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_001306132.1|protein_coding|9/44|c.1394-127T>C||||||,G|sequence_feature|LOW|FN1|FN1|helix:combinatorial_evidence_used_in_manual_assertion|NM_054034.2|protein_coding|9/12|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|9/45|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|9/45|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|9/43|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|9/43|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|9/45|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|9/46|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|9/44|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|9/44|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|9/44|c.1394-127T>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_054034.2|protein_coding|9/12|c.1394-127T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3923;p3_1000G_AF=0.783347;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=21219;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.7704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216287093;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:867,66,0
chr2	215430589	rs1250241	T	A	185.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1250241;dbSNPBuildID=87;ANN=A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_212482.2|protein_coding|5/45|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_002026.3|protein_coding|5/45|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_212474.2|protein_coding|5/43|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_212476.2|protein_coding|5/43|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_212478.2|protein_coding|5/45|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_001306129.1|protein_coding|5/46|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_001306130.1|protein_coding|5/44|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_001306131.1|protein_coding|5/44|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_001306132.1|protein_coding|5/44|c.685+126A>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_5|NM_054034.2|protein_coding|5/12|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|5/45|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|5/45|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|5/43|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|5/43|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|5/45|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|5/46|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|5/44|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|5/44|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|5/44|c.685+126A>T||||||,A|intron_variant|MODIFIER|FN1|FN1|transcript|NM_054034.2|protein_coding|5/12|c.685+126A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3981;p3_1000G_AF=0.794928;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.7954;p3_1000G_AN=5008;p3_1000G_DP=18752;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.7674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216295312;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:214,18,0
chr2	215434827	rs2577290	G	A	2480.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2577290;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|1/45|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|1/45|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|1/43|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|1/43|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|1/45|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|1/46|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|1/44|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|1/44|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|1/44|c.149-3C>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_054034.2|protein_coding|1/12|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212482.2|protein_coding|1/45|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_002026.3|protein_coding|1/45|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212474.2|protein_coding|1/43|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212476.2|protein_coding|1/43|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212478.2|protein_coding|1/45|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306129.1|protein_coding|1/46|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306130.1|protein_coding|1/44|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306131.1|protein_coding|1/44|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306132.1|protein_coding|1/44|c.149-3C>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_054034.2|protein_coding|1/12|c.149-3C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2115;p3_1000G_AF=0.422324;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=17717;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216299550;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=744,3662;ESP6500_AA_GTC=167,410,1626;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_054034.2:1974,NM_002026.2:7068;ESP6500_CG=4.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=127;ESP6500_EA_AC=1136,7464;ESP6500_EA_GTC=218,700,3382;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_054034.2:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215434827;ESP6500_GTC=385,1110,5008;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.149-3C>T,NM_212478.1:c.149-3C>T,NM_212476.1:c.149-3C>T,NM_212474.1:c.149-3C>T,NM_054034.2:c.149-3C>T,NM_002026.2:c.149-3C>T;ESP6500_MAF=13.2093,16.8861,14.4549;ESP6500_TAC=1880,11126	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,56:56:99:1|1:215434827_G_A:2509,169,0
chr2	215434828	rs2692234	C	A	2480.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2692234;dbSNPBuildID=116;ANN=A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212482.2|protein_coding|1/45|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_002026.3|protein_coding|1/45|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212474.2|protein_coding|1/43|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212476.2|protein_coding|1/43|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_212478.2|protein_coding|1/45|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306129.1|protein_coding|1/46|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306130.1|protein_coding|1/44|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306131.1|protein_coding|1/44|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_001306132.1|protein_coding|1/44|c.149-4G>T||||||,A|splice_region_variant&intron_variant|LOW|FN1|FN1|transcript|NM_054034.2|protein_coding|1/12|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212482.2|protein_coding|1/45|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_002026.3|protein_coding|1/45|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212474.2|protein_coding|1/43|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212476.2|protein_coding|1/43|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212478.2|protein_coding|1/45|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306129.1|protein_coding|1/46|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306130.1|protein_coding|1/44|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306131.1|protein_coding|1/44|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306132.1|protein_coding|1/44|c.149-4G>T||||||,A|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_054034.2|protein_coding|1/12|c.149-4G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2115;p3_1000G_AF=0.422324;p3_1000G_AFR_AF=0.2738;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=18208;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216299551;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=674,3732;ESP6500_AA_GTC=165,344,1694;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_054034.2:1974,NM_002026.2:7068;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=126;ESP6500_EA_AC=1035,7565;ESP6500_EA_GTC=218,599,3483;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_054034.2:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215434828;ESP6500_GTC=383,943,5177;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.149-4G>T,NM_212478.1:c.149-4G>T,NM_212476.1:c.149-4G>T,NM_212474.1:c.149-4G>T,NM_054034.2:c.149-4G>T,NM_002026.2:c.149-4G>T;ESP6500_MAF=12.0349,15.2973,13.1401;ESP6500_TAC=1709,11297	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,56:56:99:1|1:215434827_G_A:2509,169,0
chr2	215434848	rs10648691	T	TTAC	1807.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.88;SOR=1.845;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10648691;dbSNPBuildID=129;ANN=TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212482.2|protein_coding|1/45|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_002026.3|protein_coding|1/45|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212474.2|protein_coding|1/43|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212476.2|protein_coding|1/43|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212478.2|protein_coding|1/45|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306129.1|protein_coding|1/46|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306130.1|protein_coding|1/44|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306131.1|protein_coding|1/44|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306132.1|protein_coding|1/44|c.149-27_149-25dupGTA||||||,TTAC|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_054034.2|protein_coding|1/12|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|1/45|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|1/45|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|1/43|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|1/43|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|1/45|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|1/46|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|1/44|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|1/44|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|1/44|c.149-27_149-25dupGTA||||||,TTAC|intron_variant|MODIFIER|FN1|FN1|transcript|NM_054034.2|protein_coding|1/12|c.149-27_149-25dupGTA||||||;p3_1000G_AC=2849;p3_1000G_AF=0.56889;p3_1000G_AFR_AF=0.5393;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=19046;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.502;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216299571;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=INDEL;ESP6500_AA_AC=2229,2037;ESP6500_AA_GTC=576,1077,480;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_054034.2:1974,NM_002026.2:7068;ESP6500_CG=3.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=99;ESP6500_EA_AC=3931,4323;ESP6500_EA_GTC=918,2095,1114;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212482.1:intron,NM_212478.1:intron,NM_212476.1:intron,NM_212474.1:intron,NM_054034.2:intron,NM_002026.2:intron;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215434848;ESP6500_GTC=1494,3172,1594;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.149-25_149-24insGTA,NM_212478.1:c.149-25_149-24insGTA,NM_212476.1:c.149-25_149-24insGTA,NM_212474.1:c.149-25_149-24insGTA,NM_054034.2:c.149-25_149-24insGTA,NM_002026.2:c.149-25_149-24insGTA;ESP6500_MAF=47.6254,47.7496,49.2013;ESP6500_TAC=6160,6360	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1845,123,0
chr2	215434906	rs1250247	C	G	659.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.38;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1250247;dbSNPBuildID=87;ANN=G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212482.2|protein_coding|1/45|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_002026.3|protein_coding|1/45|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212474.2|protein_coding|1/43|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212476.2|protein_coding|1/43|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_212478.2|protein_coding|1/45|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306129.1|protein_coding|1/46|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306130.1|protein_coding|1/44|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306131.1|protein_coding|1/44|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_001306132.1|protein_coding|1/44|c.149-82G>C||||||,G|sequence_feature|LOW|FN1|FN1|domain:Fibronectin_type-I_1|NM_054034.2|protein_coding|1/12|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212482.2|protein_coding|1/45|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_002026.3|protein_coding|1/45|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212474.2|protein_coding|1/43|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212476.2|protein_coding|1/43|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_212478.2|protein_coding|1/45|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306129.1|protein_coding|1/46|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306130.1|protein_coding|1/44|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306131.1|protein_coding|1/44|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_001306132.1|protein_coding|1/44|c.149-82G>C||||||,G|intron_variant|MODIFIER|FN1|FN1|transcript|NM_054034.2|protein_coding|1/12|c.149-82G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3969;p3_1000G_AF=0.792532;p3_1000G_AFR_AF=0.8979;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=19188;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.7654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216299629;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:688,51,0
chr2	215435759	rs1250259	T	A	1169.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1250259;dbSNPBuildID=87;ANN=A|missense_variant|MODERATE|FN1|FN1|transcript|NM_212482.2|protein_coding|1/46|c.44A>T|p.Gln15Leu|310/8815|44/7434|15/2477||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_002026.3|protein_coding|1/46|c.44A>T|p.Gln15Leu|310/8449|44/7068|15/2355||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_212474.2|protein_coding|1/44|c.44A>T|p.Gln15Leu|310/7912|44/6531|15/2176||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_212476.2|protein_coding|1/44|c.44A>T|p.Gln15Leu|310/8272|44/6891|15/2296||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_212478.2|protein_coding|1/46|c.44A>T|p.Gln15Leu|310/8374|44/6993|15/2330||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306129.1|protein_coding|1/47|c.44A>T|p.Gln15Leu|312/8724|44/7341|15/2446||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306130.1|protein_coding|1/45|c.44A>T|p.Gln15Leu|312/8187|44/6804|15/2267||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306131.1|protein_coding|1/45|c.44A>T|p.Gln15Leu|312/8181|44/6798|15/2265||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_001306132.1|protein_coding|1/45|c.44A>T|p.Gln15Leu|312/8106|44/6723|15/2240||,A|missense_variant|MODERATE|FN1|FN1|transcript|NM_054034.2|protein_coding|1/13|c.44A>T|p.Gln15Leu|310/2383|44/1974|15/657||;p3_1000G_AA=A|||;p3_1000G_AC=3982;p3_1000G_AF=0.795128;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=13160;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.7674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216300482;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3812,592;ESP6500_AA_GTC=1655,502,45;ESP6500_CDS_SIZES=NM_212482.1:7434,NM_212478.1:6993,NM_212476.1:6891,NM_212474.1:6531,NM_054034.2:1974,NM_002026.2:7068;ESP6500_CG=5.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=16;ESP6500_EA_AC=6442,2158;ESP6500_EA_GTC=2423,1596,281;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_212482.1:missense,NM_212478.1:missense,NM_212476.1:missense,NM_212474.1:missense,NM_054034.2:missense,NM_002026.2:missense;ESP6500_GL=FN1;ESP6500_GRCh38_POSITION=2:215435759;ESP6500_GS=113,113,113,113,113,113;ESP6500_GTC=4078,2098,326;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_212482.1:c.44A>T,NM_212478.1:c.44A>T,NM_212476.1:c.44A>T,NM_212474.1:c.44A>T,NM_054034.2:c.44A>T,NM_002026.2:c.44A>T;ESP6500_HGVS_PROTEIN_VAR=NM_212482.1:p.(Q15L),NM_212478.1:p.(Q15L),NM_212476.1:p.(Q15L),NM_212474.1:p.(Q15L),NM_054034.2:p.(Q15L),NM_002026.2:p.(Q15L);ESP6500_MAF=25.093,13.4423,21.1473;ESP6500_PH=benign:0.007,benign:0.007,benign:0.007,benign:0.007,benign:0.007,benign:0.007;ESP6500_TAC=10254,2750	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,38:38:99:1|1:215435752_C_A:1198,114,0
chr2	216013285	rs1864253	C	G	296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.614;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.413;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1864253;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|MREG|MREG|transcript|NM_018000.2|protein_coding|1/5|c.43G>C|p.Gly15Arg|339/3213|43/645|15/214||;p3_1000G_AA=G|||;p3_1000G_AC=3391;p3_1000G_AF=0.677117;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=9620;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.6402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216878008;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2469,879;ESP6500_AA_GTC=941,587,146;ESP6500_CDS_SIZES=NM_018000.2:645;ESP6500_CG=3.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=10;ESP6500_EA_AC=4315,2363;ESP6500_EA_GTC=1483,1349,507;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018000.2:missense;ESP6500_GL=MREG;ESP6500_GRCh38_POSITION=2:216013285;ESP6500_GS=125;ESP6500_GTC=2424,1936,653;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_018000.2:c.43G>C;ESP6500_HGVS_PROTEIN_VAR=NM_018000.2:p.(G15R);ESP6500_MAF=35.3848,26.2545,32.3359;ESP6500_PH=benign:0.0;ESP6500_TAC=6784,3242	GT:AD:DP:GQ:PL	0/1:8,12:20:99:325,0,221
chr2	216132308	rs3218738	C	G	565.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.838;SOR=1.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3218738;dbSNPBuildID=106;ANN=G|intron_variant|MODIFIER|XRCC5|XRCC5|transcript|NM_021141.3|protein_coding|9/20|c.1051-17C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20863;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=216997031;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,21:55:99:594,0,917
chr2	216148178	rs207906	A	G	998.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.27;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs207906;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|XRCC5|XRCC5|transcript|NM_021141.3|protein_coding|14/21|c.1572A>G|p.Thr524Thr|1712/3430|1572/2199|524/732||;p3_1000G_AA=G|||;p3_1000G_AC=4421;p3_1000G_AF=0.882788;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.9049;p3_1000G_AN=5008;p3_1000G_DP=18712;p3_1000G_EAS_AF=0.9296;p3_1000G_EUR_AF=0.8748;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217012901;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3881,525;ESP6500_AA_AGE=238.4+/-249.8;ESP6500_AA_GTC=1700,481,22;ESP6500_CDS_SIZES=NM_021141.3:2199;ESP6500_CG=-3.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=93;ESP6500_EA_AC=7476,1124;ESP6500_EA_AGE=233.6+/-266.8;ESP6500_EA_GTC=3256,964,80;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021141.3:coding-synonymous;ESP6500_GL=XRCC5;ESP6500_GRCh38_POSITION=2:216148178;ESP6500_GTC=4956,1445,102;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021141.3:c.1572A>G;ESP6500_HGVS_PROTEIN_VAR=NM_021141.3:p.(T524);ESP6500_MAF=13.0698,11.9156,12.6788;ESP6500_TAC=11357,1649	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1027,99,0
chr2	216190432	rs138612428	A	T	378.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.99;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.05;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138612428;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|XRCC5|XRCC5|transcript|NM_021141.3|protein_coding|17/20|c.1944+98A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21042;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217055155;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,15:29:99:407,0,406
chr2	216190448	rs12470053	A	G	410.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.99;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=1.5;SOR=0.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12470053;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|XRCC5|XRCC5|transcript|NM_021141.3|protein_coding|17/20|c.1944+114A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4154;p3_1000G_AF=0.829473;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=20949;p3_1000G_EAS_AF=0.9365;p3_1000G_EUR_AF=0.6262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217055171;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,13:23:99:439,0,305
chr2	216204428	rs1438162	A	G	444.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.926;SOR=0.929;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1438162;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|XRCC5|XRCC5|transcript|NM_021141.3|protein_coding|20/20|c.2184+32A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=2107;p3_1000G_AF=0.420727;p3_1000G_AFR_AF=0.1929;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=18869;p3_1000G_EAS_AF=0.7183;p3_1000G_EUR_AF=0.4036;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217069151;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=955,3451;ESP6500_AA_AGE=361.4+/-315.7;ESP6500_AA_GTC=99,757,1347;ESP6500_CDS_SIZES=NM_021141.3:2199;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=70;ESP6500_EA_AC=3229,5371;ESP6500_EA_AGE=486.3+/-371.9;ESP6500_EA_GTC=599,2031,1670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021141.3:intron;ESP6500_GL=XRCC5;ESP6500_GRCh38_POSITION=2:216204428;ESP6500_GTC=698,2788,3017;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_021141.3:c.2184+32A>G;ESP6500_MAF=37.5465,21.675,32.1698;ESP6500_TAC=4184,8822	GT:AD:DP:GQ:PL	0/1:18,18:36:99:473,0,439
chr2	216259235	rs169616	T	C	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.019;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.21;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs169616;dbSNPBuildID=79;ANN=C|3_prime_UTR_variant|MODIFIER|MARCH4|MARCH4|transcript|NM_020814.2|protein_coding|4/4|c.*77A>G|||||77|;p3_1000G_AA=C|||;p3_1000G_AC=3886;p3_1000G_AF=0.775958;p3_1000G_AFR_AF=0.8691;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=17133;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.8827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217123958;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:88:186,0,88
chr2	216283694	rs876771	C	A	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.861;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.303;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.102;SOR=0.633;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs876771;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|MARCH4|MARCH4|transcript|NM_020814.2|protein_coding|2/4|c.552G>T|p.Ser184Ser|2319/4450|552/1233|184/410||;p3_1000G_AA=C|||;p3_1000G_AC=2183;p3_1000G_AF=0.435903;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=20032;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.493;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217148417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1453,2953;ESP6500_AA_AGE=469.0+/-355.3;ESP6500_AA_GTC=243,967,993;ESP6500_CDS_SIZES=NM_020814.2:1233;ESP6500_CG=-8.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=56;ESP6500_EA_AC=4144,4456;ESP6500_EA_AGE=565.2+/-388.4;ESP6500_EA_GTC=976,2192,1132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020814.2:coding-synonymous;ESP6500_GL=MARCH4;ESP6500_GRCh38_POSITION=2:216283694;ESP6500_GTC=1219,3159,2125;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020814.2:c.552G>T;ESP6500_HGVS_PROTEIN_VAR=NM_020814.2:p.(S184);ESP6500_MAF=48.186,32.9778,43.034;ESP6500_TAC=5597,7409	GT:AD:DP:GQ:PL	0/1:23,15:38:99:377,0,626
chr2	216283823	rs2249264	A	G	60.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.66;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2249264;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|MARCH4|MARCH4|transcript|NM_020814.2|protein_coding|1/3|c.517-94T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3140;p3_1000G_AF=0.626997;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=15946;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.5537;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217148546;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:89:89,0,254
chr2	216415538	rs772486038	GTTT	G	582.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.156;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.75;ReadPosRankSum=-1.131;SOR=1.528;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_001127207.1|protein_coding|3/17|c.811+36_811+38delTTT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_014140.3|protein_coding|3/17|c.811+36_811+38delTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:1,10:11:99:620,230,317
chr2	216415538	.	GTTT	GTT	582.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.156;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.75;ReadPosRankSum=-1.131;SOR=1.528;DEL;HET;VARTYPE=DEL;ANN=GTT|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_001127207.1|protein_coding|3/17|c.811+38delT||||||INFO_REALIGN_3_PRIME,GTT|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_014140.3|protein_coding|3/17|c.811+38delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,10:11:99:620,323,285
chr2	216416101	rs2306638	T	C	407.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.07;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=0.76;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306638;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_001127207.1|protein_coding|3/17|c.812-156T>C||||||,C|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_014140.3|protein_coding|3/17|c.812-156T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=445;p3_1000G_AF=0.0888578;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=20419;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217280824;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,13:19:99:436,0,177
chr2	216416427	rs3214962;rs397804850;rs398081055;rs577996239	AC	A	268.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3214962;dbSNPBuildID=106,138,138;ANN=A|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_001127207.1|protein_coding|4/17|c.862+128delC||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_014140.3|protein_coding|4/17|c.862+128delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3810;p3_1000G_AF=0.760783;p3_1000G_AFR_AF=0.9138;p3_1000G_AMR_AF=0.6988;p3_1000G_AN=5008;p3_1000G_DP=19935;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.6481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217281150;p3_1000G_GRCH37_REF=AC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6933;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,10:10:30:306,30,0
chr2	216423665	rs2066518;198202	G	C	520.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=4.442;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.552;SOR=1.247;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2066518;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|SMARCAL1|SMARCAL1|transcript|NM_001127207.1|protein_coding|6/18|c.1129G>C|p.Glu377Gln|1273/3083|1129/2865|377/954||,C|missense_variant|MODERATE|SMARCAL1|SMARCAL1|transcript|NM_014140.3|protein_coding|6/18|c.1129G>C|p.Glu377Gln|1459/3269|1129/2865|377/954||;p3_1000G_AA=G|||;p3_1000G_AC=365;p3_1000G_AF=0.0728834;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=24089;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217288388;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=345,4061;ESP6500_AA_AGE=180.5+/-208.7;ESP6500_AA_GTC=17,311,1875;ESP6500_CDS_SIZES=NM_014140.3:2865,NM_001127207.1:2865;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=203;ESP6500_EA_AC=78,8522;ESP6500_EA_AGE=45.4+/-104.0;ESP6500_EA_GTC=1,76,4223;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014140.3:missense,NM_001127207.1:missense;ESP6500_GL=SMARCAL1;ESP6500_GRCh38_POSITION=2:216423665;ESP6500_GS=29,29;ESP6500_GTC=18,387,6098;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014140.3:c.1129G>C,NM_001127207.1:c.1129G>C;ESP6500_HGVS_PROTEIN_VAR=NM_014140.3:p.(E377Q),NM_001127207.1:p.(E377Q);ESP6500_MAF=0.907,7.8302,3.2523;ESP6500_PH=benign:0.425,benign:0.425;ESP6500_TAC=423,12583;CLINVAR_AF_ESP=0.0325;CLINVAR_AF_EXAC=0.03325;CLINVAR_AF_TGP=0.0729;CLINVAR_ALLELEID=195363;CLINVAR_CLNDISDB=MedGen:C0877024,OMIM:242900,Orphanet:ORPHA1830|MedGen:CN169374;CLINVAR_CLNDN=Schimke_immunoosseous_dysplasia|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.216423665G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:95749|UniProtKB_(protein):Q9NZC9#VAR_021368;CLINVAR_GENEINFO=SMARCAL1:50485;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2066518	GT:AD:DP:GQ:PL	0/1:21,19:40:99:549,0,557
chr2	216432695	rs2066521	A	G	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.617;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=12.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.38;SOR=0.016;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2066521;dbSNPBuildID=98;ANN=G|sequence_feature|LOW|SMARCAL1|SMARCAL1|domain:Helicase_ATP-binding|NM_014140.3|protein_coding|7/17|c.1335-23A>G||||||,G|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_001127207.1|protein_coding|7/17|c.1335-23A>G||||||,G|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_014140.3|protein_coding|7/17|c.1335-23A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=364;p3_1000G_AF=0.0726837;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=17860;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217297418;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=343,4063;ESP6500_AA_AGE=794.8+/-415.3;ESP6500_AA_GTC=16,311,1876;ESP6500_CDS_SIZES=NM_014140.3:2865,NM_001127207.1:2865;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=52;ESP6500_EA_AC=80,8520;ESP6500_EA_AGE=815.4+/-407.0;ESP6500_EA_GTC=1,78,4221;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014140.3:intron,NM_001127207.1:intron;ESP6500_GL=SMARCAL1;ESP6500_GRCh38_POSITION=2:216432695;ESP6500_GTC=17,389,6097;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014140.3:c.1335-23A>G,NM_001127207.1:c.1335-23A>G;ESP6500_MAF=0.9302,7.7848,3.2523;ESP6500_TAC=423,12583	GT:AD:DP:GQ:PL	0/1:9,7:16:99:166,0,273
chr2	216438364	rs3816783	T	C	718.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.16;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=2.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=1.73;SOR=1.214;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816783;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_001127207.1|protein_coding|9/17|c.1645-56T>C||||||,C|intron_variant|MODIFIER|SMARCAL1|SMARCAL1|transcript|NM_014140.3|protein_coding|9/17|c.1645-56T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=366;p3_1000G_AF=0.0730831;p3_1000G_AFR_AF=0.0885;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=21350;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217303087;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=104,1280;ESP6500_AA_GTC=6,92,594;ESP6500_CDS_SIZES=NM_014140.3:2865,NM_001127207.1:2865;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=110;ESP6500_EA_AC=34,3148;ESP6500_EA_GTC=1,32,1558;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014140.3:intron,NM_001127207.1:intron;ESP6500_GL=SMARCAL1;ESP6500_GRCh38_POSITION=2:216438364;ESP6500_GTC=7,124,2152;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014140.3:c.1645-56T>C,NM_001127207.1:c.1645-56T>C;ESP6500_MAF=1.0685,7.5145,3.0223;ESP6500_TAC=138,4428	GT:AD:DP:GQ:PL	0/1:20,27:47:99:747,0,428
chr2	216498874	rs28365967	C	T	1168.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.332;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=0.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.723;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28365967;dbSNPBuildID=130;ANN=T|5_prime_UTR_variant|MODIFIER|RPL37A|RPL37A|transcript|NM_000998.4|protein_coding|1/4|c.-1C>T|||||1|;p3_1000G_AA=C|||;p3_1000G_AC=375;p3_1000G_AF=0.0748802;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=16985;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217363597;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=317,4089;ESP6500_AA_AGE=169.8+/-200.3;ESP6500_AA_GTC=11,295,1897;ESP6500_CDS_SIZES=NM_000998.4:279;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=171;ESP6500_EA_AC=94,8506;ESP6500_EA_AGE=51.1+/-111.2;ESP6500_EA_GTC=1,92,4207;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000998.4:utr-5;ESP6500_GL=RPL37A;ESP6500_GRCh38_POSITION=2:216498874;ESP6500_GTC=12,387,6104;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000998.4:c.-1C>T;ESP6500_MAF=1.093,7.1947,3.1601;ESP6500_TAC=411,12595	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1197,0,952
chr2	216498915	rs28365968	G	A	1362.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.247;ClippingRankSum=0;DP=104;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.515;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28365968;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|RPL37A|RPL37A|transcript|NM_000998.4|protein_coding|1/3|c.3+38G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=375;p3_1000G_AF=0.0748802;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=16634;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217363638;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=316,4090;ESP6500_AA_AGE=797.5+/-415.4;ESP6500_AA_GTC=11,294,1898;ESP6500_CDS_SIZES=NM_000998.4:279;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=187;ESP6500_EA_AC=94,8506;ESP6500_EA_AGE=815.1+/-407.0;ESP6500_EA_GTC=1,92,4207;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000998.4:intron;ESP6500_GL=RPL37A;ESP6500_GRCh38_POSITION=2:216498915;ESP6500_GTC=12,386,6105;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000998.4:c.3+38G>A;ESP6500_MAF=1.093,7.172,3.1524;ESP6500_TAC=410,12596	GT:AD:DP:GQ:PL	0/1:43,61:104:99:1391,0,1062
chr2	216498950	rs28365969	A	G	1270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.05;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0.838;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.175;SOR=0.59;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28365969;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|RPL37A|RPL37A|transcript|NM_000998.4|protein_coding|1/3|c.3+73A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=375;p3_1000G_AF=0.0748802;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=17024;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217363673;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=84,1300;ESP6500_AA_GTC=5,74,613;ESP6500_CDS_SIZES=NM_000998.4:279;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=299;ESP6500_EA_AC=39,3143;ESP6500_EA_GTC=1,37,1553;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000998.4:intron;ESP6500_GL=RPL37A;ESP6500_GRCh38_POSITION=2:216498950;ESP6500_GTC=6,111,2166;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000998.4:c.3+73A>G;ESP6500_MAF=1.2256,6.0694,2.6938;ESP6500_TAC=123,4443	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1299,0,781
chr2	216499117	rs12619115	A	G	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.48;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=2.34;SOR=0.268;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12619115;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|RPL37A|RPL37A|transcript|NM_000998.4|protein_coding|1/3|c.4-153A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=375;p3_1000G_AF=0.0748802;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=15521;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217363840;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,12:27:99:382,0,442
chr2	216499816	rs284572	C	T	678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.05;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs284572;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|RPL37A|RPL37A|transcript|NM_000998.4|protein_coding|2/3|c.133-133C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3438;p3_1000G_AF=0.686502;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=22768;p3_1000G_EAS_AF=0.6111;p3_1000G_EUR_AF=0.8221;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217364539;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:707,57,0
chr2	216500041	rs2272243	G	T	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.849;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.849;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272243;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|RPL37A|RPL37A|transcript|NM_000998.4|protein_coding|3/3|c.215+10G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=688;p3_1000G_AF=0.13738;p3_1000G_AFR_AF=0.2534;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=17915;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217364764;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1084,3322;ESP6500_AA_AGE=720.5+/-409.1;ESP6500_AA_GTC=125,834,1244;ESP6500_CDS_SIZES=NM_000998.4:279;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=99;ESP6500_EA_AC=432,8168;ESP6500_EA_AGE=799.7+/-407.4;ESP6500_EA_GTC=13,406,3881;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000998.4:intron;ESP6500_GL=RPL37A;ESP6500_GRCh38_POSITION=2:216500041;ESP6500_GTC=138,1240,5125;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000998.4:c.215+10G>T;ESP6500_MAF=5.0233,24.6028,11.6562;ESP6500_TAC=1516,11490	GT:AD:DP:GQ:PL	0/1:9,5:14:99:167,0,300
chr2	216633496	rs566460162	C	CCGCCG	34.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=0.842;SOR=0.223;INS;HET;VARTYPE=INS;dbSNPBuildID=142;ANN=CCGCCG|5_prime_UTR_variant|MODIFIER|IGFBP2|IGFBP2|transcript|NM_000597.2|protein_coding|1/4|c.-19_-15dupCGCGC|||||14|INFO_REALIGN_3_PRIME,CCGCCG|intron_variant|MODIFIER|IGFBP2|IGFBP2|transcript|NM_001313992.1|protein_coding|1/3|c.-57+230_-57+234dupCGCGC||||||INFO_REALIGN_3_PRIME,CCGCCG|intron_variant|MODIFIER|IGFBP2|IGFBP2|transcript|NM_001313993.1|protein_coding|1/3|c.-57+491_-57+495dupCGCGC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=4160;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217498219;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,2:6:72:0|1:216633496_C_CCGCCG:72,0,196
chr2	216676859	rs2160549	T	C	1393.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2160549;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|IGFBP5|IGFBP5|transcript|NM_000599.3|protein_coding|4/4|c.711A>G|p.Lys237Lys|1485/6239|711/819|237/272||;p3_1000G_AA=C|||;p3_1000G_AC=4901;p3_1000G_AF=0.978634;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=12550;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=217541582;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4120,286;ESP6500_AA_AGE=158.5+/-191.2;ESP6500_AA_GTC=1922,276,5;ESP6500_CDS_SIZES=NM_000599.3:819;ESP6500_CG=1.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=161;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000599.3:coding-synonymous;ESP6500_GL=IGFBP5;ESP6500_GRCh38_POSITION=2:216676859;ESP6500_GTC=6220,278,5;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000599.3:c.711A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000599.3:p.(K237);ESP6500_MAF=0.0233,6.4911,2.2144;ESP6500_TAC=12718,288	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,45:45:99:1|1:216676859_T_C:1422,135,0
chr2	217713096	rs1430120	C	G	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.174;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.068;SOR=0.586;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1430120;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|DIRC3|DIRC3|transcript|NR_026597.1|pseudogene|1/12|n.126+43372G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=619;p3_1000G_AF=0.123602;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=17593;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.0915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218577819;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0603;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,16:26:99:434,0,239
chr2	217739524	rs4672848	A	C	1572.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.46;SOR=1.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672848;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|DIRC3|DIRC3|transcript|NR_026597.1|pseudogene|1/12|n.126+16944T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4914;p3_1000G_AF=0.98123;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18896;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218604247;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1601,141,0
chr2	217739579	rs11336139	GA	G	495.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.389;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=-0.088;SOR=0.786;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11336139;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|DIRC3|DIRC3|transcript|NR_026597.1|pseudogene|1/12|n.126+16888delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1390;p3_1000G_AF=0.277556;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=20010;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218604302;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:35,26:61:99:533,0,801
chr2	217739633	rs4294980	G	A	948.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.085;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.272;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4294980;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|DIRC3|DIRC3|transcript|NR_026597.1|pseudogene|1/12|n.126+16835C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3261;p3_1000G_AF=0.651158;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=20773;p3_1000G_EAS_AF=0.8095;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218604356;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,37:67:99:977,0,791
chr2	217818431	rs2571445	A	G	526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.067;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.331;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.148;SOR=0.908;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2571445;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|TNS1|TNS1|transcript|NM_022648.5|protein_coding|24/33|c.3589T>C|p.Trp1197Arg|3987/10276|3589/5208|1197/1735||,G|missense_variant|MODERATE|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|22/31|c.3550T>C|p.Trp1184Arg|3739/10025|3550/5166|1184/1721||,G|missense_variant|MODERATE|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|21/30|c.3526T>C|p.Trp1176Arg|3715/10004|3526/5145|1176/1714||;p3_1000G_AA=G|||;p3_1000G_AC=3300;p3_1000G_AF=0.658946;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=16545;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.5905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218683154;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5603;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3530,876;ESP6500_AA_AGE=334.1+/-303.3;ESP6500_AA_GTC=1408,714,81;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20010834,23284291;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=3.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=56;ESP6500_EA_AC=5284,3316;ESP6500_EA_AGE=484.0+/-371.3;ESP6500_EA_GTC=1631,2022,647;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022648.4:missense;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217818431;ESP6500_GS=101;ESP6500_GTC=3039,2736,728;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20010834,23284291;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.3589T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(W1197R);ESP6500_MAF=38.5581,19.882,32.2313;ESP6500_PH=benign:0.0;ESP6500_TAC=8814,4192	GT:AD:DP:GQ:PL	0/1:15,21:36:99:555,0,378
chr2	217821690	rs757770314	G	T	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.023;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=4.393;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.25;ReadPosRankSum=0.718;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|23/32|c.3260+50C>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|21/30|c.3221+50C>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|20/29|c.3197+50C>A||||||	GT:AD:DP:GQ:PL	0/1:4,7:11:99:229,0,101
chr2	217829787	rs398091071;rs55877504	CT	C	2032.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.31;SOR=1.085;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55877504;dbSNPBuildID=129,138;ANN=C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|22/32|c.3061+56delA||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|20/30|c.3022+579delA||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|19/29|c.2998+1667delA||||||;p3_1000G_AA=GT|TTT|TT|complex_insertion;p3_1000G_AC=3803;p3_1000G_AF=0.759385;p3_1000G_AFR_AF=0.823;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=20214;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.6938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218694510;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:217829787_CT_C:2070,138,0
chr2	217829789	rs55694913	T	G	2041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.41;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs55694913;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|22/32|c.3061+55A>C||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|20/30|c.3022+578A>C||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|19/29|c.2998+1666A>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=3803;p3_1000G_AF=0.759385;p3_1000G_AFR_AF=0.823;p3_1000G_AMR_AF=0.7795;p3_1000G_AN=5008;p3_1000G_DP=19519;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.6938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218694512;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:217829787_CT_C:2070,138,0
chr2	217829968	rs10188605	A	G	697.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.66;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10188605;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|21/32|c.3023-86T>C||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|20/30|c.3022+399T>C||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|19/29|c.2998+1487T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2091;p3_1000G_AF=0.417532;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=21797;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218694691;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:726,57,0
chr2	217830379	rs3796028	G	A	639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.66;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3796028;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|TNS1|TNS1|transcript|NM_022648.5|protein_coding|21/33|c.3010C>T|p.Arg1004Trp|3408/10276|3010/5208|1004/1735||,A|missense_variant|MODERATE|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|20/31|c.3010C>T|p.Arg1004Trp|3199/10025|3010/5166|1004/1721||,A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|19/29|c.2998+1076C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1880;p3_1000G_AF=0.375399;p3_1000G_AFR_AF=0.32;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=19019;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218695102;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1375,3031;ESP6500_AA_AGE=455.5+/-351.0;ESP6500_AA_GTC=201,973,1029;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=2946,5654;ESP6500_EA_AGE=457.3+/-364.3;ESP6500_EA_GTC=501,1944,1855;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022648.4:missense;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217830379;ESP6500_GS=101;ESP6500_GTC=702,2917,2884;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.3010C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(R1004W);ESP6500_MAF=34.2558,31.2074,33.2231;ESP6500_PH=benign:0.0;ESP6500_TAC=4321,8685	GT:AD:DP:GQ:PL	1/1:0,24:24:72:668,72,0
chr2	217842000	rs918951	G	T	881.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.262;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.334;SOR=0.596;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs918951;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/32|c.2632+5510C>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/30|c.2632+5510C>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/29|c.2632+5510C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2178;p3_1000G_AF=0.434904;p3_1000G_AFR_AF=0.6316;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=21040;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.3509;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218706723;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,32:53:99:910,0,625
chr2	217842134	rs918952	T	C	1167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=1.816;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.716;SOR=0.904;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs918952;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/32|c.2632+5376A>G||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/30|c.2632+5376A>G||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/29|c.2632+5376A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2372;p3_1000G_AF=0.473642;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=20273;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.3907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218706857;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1196,0,1045
chr2	217847379	rs55763335	A	G	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=-1.282;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55763335;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/32|c.2632+131T>C||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/30|c.2632+131T>C||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/29|c.2632+131T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2286;p3_1000G_AF=0.45647;p3_1000G_AFR_AF=0.6256;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=19418;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.4105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218712102;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,2:10:56:0|1:217847379_A_G:56,0,214
chr2	217847583	rs1004814	C	T	354.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.729;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.76;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.119;SOR=0.537;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1004814;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/33|c.2559G>A|p.Ala853Ala|2957/10276|2559/5208|853/1735||,T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/31|c.2559G>A|p.Ala853Ala|2748/10025|2559/5166|853/1721||,T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/30|c.2559G>A|p.Ala853Ala|2748/10004|2559/5145|853/1714||;p3_1000G_AA=C|||;p3_1000G_AC=2176;p3_1000G_AF=0.434505;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=17071;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218712306;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2473,1933;ESP6500_AA_AGE=623.5+/-394.1;ESP6500_AA_GTC=696,1081,426;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=75;ESP6500_EA_AC=2695,5905;ESP6500_EA_AGE=431.2+/-356.7;ESP6500_EA_GTC=437,1821,2042;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:coding-synonymous;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217847583;ESP6500_GTC=1133,2902,2468;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.2559G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(A853);ESP6500_MAF=31.3372,43.872,39.7355;ESP6500_TAC=5168,7838	GT:AD:DP:GQ:PL	0/1:8,15:23:99:383,0,212
chr2	217847883	rs1364641	G	A	391.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.733;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=-0.279;SOR=0.666;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1364641;dbSNPBuildID=88;ANN=A|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/33|c.2259C>T|p.Ser753Ser|2657/10276|2259/5208|753/1735||,A|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/31|c.2259C>T|p.Ser753Ser|2448/10025|2259/5166|753/1721||,A|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/30|c.2259C>T|p.Ser753Ser|2448/10004|2259/5145|753/1714||;p3_1000G_AA=G|||;p3_1000G_AC=2179;p3_1000G_AF=0.435104;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=14719;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218712606;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4489;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2473,1933;ESP6500_AA_GTC=705,1063,435;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=3.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=19;ESP6500_EA_AC=2685,5915;ESP6500_EA_GTC=442,1801,2057;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:coding-synonymous;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217847883;ESP6500_GTC=1147,2864,2492;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.2259C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(S753);ESP6500_MAF=31.2209,43.872,39.6586;ESP6500_TAC=5158,7848	GT:AD:DP:GQ:PL	0/1:7,13:20:99:420,0,197
chr2	217848003	rs1364642	A	G	484.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.091;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=-1.528;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1364642;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/33|c.2139T>C|p.Asn713Asn|2537/10276|2139/5208|713/1735||,G|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/31|c.2139T>C|p.Asn713Asn|2328/10025|2139/5166|713/1721||,G|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/30|c.2139T>C|p.Asn713Asn|2328/10004|2139/5145|713/1714||;p3_1000G_AA=G|||;p3_1000G_AC=2182;p3_1000G_AF=0.435703;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=16530;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218712726;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2481,1925;ESP6500_AA_AGE=535.8+/-374.3;ESP6500_AA_GTC=702,1077,424;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=47;ESP6500_EA_AC=2697,5903;ESP6500_EA_AGE=674.1+/-403.1;ESP6500_EA_GTC=438,1821,2041;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:coding-synonymous;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217848003;ESP6500_GTC=1140,2898,2465;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.2139T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(N713);ESP6500_MAF=31.3605,43.6904,39.8124;ESP6500_TAC=5178,7828	GT:AD:DP:GQ:PL	0/1:8,19:27:99:513,0,215
chr2	217848195	rs3796031	C	T	807.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.92;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=4.288;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=0.13;SOR=0.275;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796031;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/33|c.1947G>A|p.Ser649Ser|2345/10276|1947/5208|649/1735||,T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/31|c.1947G>A|p.Ser649Ser|2136/10025|1947/5166|649/1721||,T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/30|c.1947G>A|p.Ser649Ser|2136/10004|1947/5145|649/1714||;p3_1000G_AA=T|||;p3_1000G_AC=3240;p3_1000G_AF=0.646965;p3_1000G_AFR_AF=0.8313;p3_1000G_AMR_AF=0.5778;p3_1000G_AN=5008;p3_1000G_DP=16160;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.4463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218712918;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6575;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3319,1069;ESP6500_AA_GTC=1272,775,147;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=-1.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=16;ESP6500_EA_AC=3698,4886;ESP6500_EA_GTC=822,2054,1416;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:coding-synonymous;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217848195;ESP6500_GTC=2094,2829,1563;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.1947G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(S649);ESP6500_MAF=43.0801,24.3619,45.9066;ESP6500_TAC=7017,5955	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,22:45:99:0|1:217848195_C_T:836,0,1366
chr2	217848213	rs3796032	C	T	889.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.752;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.479;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.54;ReadPosRankSum=-1.209;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796032;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/33|c.1929G>A|p.Val643Val|2327/10276|1929/5208|643/1735||,T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/31|c.1929G>A|p.Val643Val|2118/10025|1929/5166|643/1721||,T|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/30|c.1929G>A|p.Val643Val|2118/10004|1929/5145|643/1714||;p3_1000G_AA=C|||;p3_1000G_AC=2178;p3_1000G_AF=0.434904;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.3156;p3_1000G_AN=5008;p3_1000G_DP=17092;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.3499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218712936;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4479;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2445,1955;ESP6500_AA_GTC=691,1063,446;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=3.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=20;ESP6500_EA_AC=2685,5907;ESP6500_EA_GTC=448,1789,2059;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:coding-synonymous;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217848213;ESP6500_GTC=1139,2852,2505;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.1929G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(V643);ESP6500_MAF=31.25,44.4318,39.4858;ESP6500_TAC=5130,7862	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,26:48:99:0|1:217848195_C_T:918,0,1333
chr2	217848559	rs3796033	G	A	976.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.201;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=2.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=1.57;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796033;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|TNS1|TNS1|transcript|NM_022648.5|protein_coding|17/33|c.1583C>T|p.Thr528Ile|1981/10276|1583/5208|528/1735||,A|missense_variant|MODERATE|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|16/31|c.1583C>T|p.Thr528Ile|1772/10025|1583/5166|528/1721||,A|missense_variant|MODERATE|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|16/30|c.1583C>T|p.Thr528Ile|1772/10004|1583/5145|528/1714||;p3_1000G_AA=G|||;p3_1000G_AC=2070;p3_1000G_AF=0.413339;p3_1000G_AFR_AF=0.5983;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18412;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.3459;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218713282;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2378,2028;ESP6500_AA_AGE=608.6+/-391.2;ESP6500_AA_GTC=661,1056,486;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=72;ESP6500_EA_AC=2631,5969;ESP6500_EA_AGE=420.5+/-353.4;ESP6500_EA_GTC=419,1793,2088;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022648.4:missense;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217848559;ESP6500_GS=89;ESP6500_GTC=1080,2849,2574;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.1583C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(T528I);ESP6500_MAF=30.593,46.0281,38.513;ESP6500_PH=possibly-damaging:0.722;ESP6500_TAC=5009,7997	GT:AD:DP:GQ:PL	0/1:44,39:83:99:1005,0,1241
chr2	217880962	rs10199795	G	A	1006.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10199795;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_022648.5|protein_coding|16/33|c.990C>T|p.Ser330Ser|1388/10276|990/5208|330/1735||,A|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|15/31|c.990C>T|p.Ser330Ser|1179/10025|990/5166|330/1721||,A|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|15/30|c.990C>T|p.Ser330Ser|1179/10004|990/5145|330/1714||;p3_1000G_AA=G|||;p3_1000G_AC=2658;p3_1000G_AF=0.530751;p3_1000G_AFR_AF=0.584;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=16626;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.6074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218745685;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3722;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2578,1828;ESP6500_AA_AGE=637.0+/-396.7;ESP6500_AA_GTC=755,1068,380;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=-5.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=113;ESP6500_EA_AC=5197,3403;ESP6500_EA_AGE=640.2+/-399.6;ESP6500_EA_GTC=1562,2073,665;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:coding-synonymous;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217880962;ESP6500_GTC=2317,3141,1045;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.990C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(S330);ESP6500_MAF=39.5698,41.4889,40.2199;ESP6500_TAC=7775,5231	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1035,96,0
chr2	217882267	rs2303381	A	T	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.441;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=-0.319;SOR=2.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303381;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|15/32|c.937+79T>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|14/30|c.937+79T>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|14/29|c.937+79T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=587;p3_1000G_AF=0.117212;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=14417;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218746990;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.181;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:50:246,0,50
chr2	217882467	rs2303383	T	C	64.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2303383;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|14/32|c.872-56A>G||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|13/30|c.872-56A>G||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|13/29|c.872-56A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=957;p3_1000G_AF=0.191094;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=13183;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.1044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218747190;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2873;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=212,1172;ESP6500_AA_GTC=17,178,497;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=252,2922;ESP6500_EA_GTC=15,222,1350;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:intron;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217882467;ESP6500_GTC=32,400,1847;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.872-56A>G;ESP6500_MAF=7.9395,15.3179,10.1799;ESP6500_TAC=464,4094	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr2	217885636	rs6714587	G	A	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.25;ReadPosRankSum=-0.618;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6714587;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|13/32|c.741+108C>T||||||,A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|12/30|c.741+108C>T||||||,A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|12/29|c.741+108C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1291;p3_1000G_AF=0.257788;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=20221;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.1044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218750359;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,6:11:99:0|1:217885636_G_A:273,0,189
chr2	217885654	rs12990490	C	T	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.422;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.38;ReadPosRankSum=-0.4;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12990490;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|13/32|c.741+90G>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|12/30|c.741+90G>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|12/29|c.741+90G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1290;p3_1000G_AF=0.257588;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=20070;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.1044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218750377;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,10:18:99:0|1:217885636_G_A:359,0,245
chr2	217885730	rs35040165;rs386392646;rs386392647	A	AG	1387.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.69;SOR=1.022;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35040165;dbSNPBuildID=126,138,138;ANN=AG|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|13/32|c.741+13dupC||||||,AG|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|12/30|c.741+13dupC||||||,AG|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|12/29|c.741+13dupC||||||;p3_1000G_AA=GGG|GG|GGG|deletion;p3_1000G_AC=3251;p3_1000G_AF=0.649161;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=21147;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218750453;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6513;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1425,120,0
chr2	217885980	rs2288166	C	T	418.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.892;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.326;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288166;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|12/32|c.665+64G>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|11/30|c.665+64G>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|11/29|c.665+64G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1283;p3_1000G_AF=0.25619;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=20413;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.1044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218750703;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=471,913;ESP6500_AA_GTC=82,307,303;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=254,2928;ESP6500_EA_GTC=15,224,1352;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:intron;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217885980;ESP6500_GTC=97,531,1655;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.665+64G>A;ESP6500_MAF=7.9824,34.0318,15.8782;ESP6500_TAC=725,3841	GT:AD:DP:GQ:PL	0/1:18,18:36:99:447,0,515
chr2	217886008	rs2288167	G	C	874.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.635;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.174;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.34;ReadPosRankSum=-0.683;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288167;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|12/32|c.665+36C>G||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|11/30|c.665+36C>G||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|11/29|c.665+36C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1289;p3_1000G_AF=0.257388;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=20392;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.1044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218750731;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1458,2948;ESP6500_AA_AGE=470.7+/-355.8;ESP6500_AA_GTC=254,950,999;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=87;ESP6500_EA_AC=722,7878;ESP6500_EA_AGE=176.3+/-226.2;ESP6500_EA_GTC=36,650,3614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:intron;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217886008;ESP6500_GTC=290,1600,4613;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.665+36C>G;ESP6500_MAF=8.3953,33.0912,16.7615;ESP6500_TAC=2180,10826	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,23:43:99:0|1:217886008_G_C:903,0,884
chr2	217886011	rs2288168	T	A	871.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.506;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=-0.046;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288168;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|12/32|c.665+33A>T||||||,A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|11/30|c.665+33A>T||||||,A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|11/29|c.665+33A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1289;p3_1000G_AF=0.257388;p3_1000G_AFR_AF=0.3865;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=20371;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.1044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218750734;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1459,2947;ESP6500_AA_AGE=680.7+/-403.9;ESP6500_AA_GTC=255,949,999;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=722,7878;ESP6500_EA_AGE=786.4+/-407.6;ESP6500_EA_GTC=36,650,3614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:intron;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217886011;ESP6500_GTC=291,1599,4613;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.665+33A>T;ESP6500_MAF=8.3953,33.1139,16.7692;ESP6500_TAC=2181,10825	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,23:45:99:0|1:217886008_G_C:900,0,906
chr2	217886094	rs10211238	T	C	528.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.76;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.243;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.1;SOR=0.62;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10211238;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_022648.5|protein_coding|12/33|c.615A>G|p.Pro205Pro|1013/10276|615/5208|205/1735||,C|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|11/31|c.615A>G|p.Pro205Pro|804/10025|615/5166|205/1721||,C|synonymous_variant|LOW|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|11/30|c.615A>G|p.Pro205Pro|804/10004|615/5145|205/1714||;p3_1000G_AA=C|||;p3_1000G_AC=1295;p3_1000G_AF=0.258586;p3_1000G_AFR_AF=0.3873;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=19648;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.1054;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218750817;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1462,2944;ESP6500_AA_AGE=680.4+/-403.8;ESP6500_AA_GTC=256,950,997;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=108;ESP6500_EA_AC=729,7871;ESP6500_EA_AGE=786.2+/-407.6;ESP6500_EA_GTC=36,657,3607;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:coding-synonymous;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217886094;ESP6500_GTC=292,1607,4604;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.615A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022648.4:p.(P205);ESP6500_MAF=8.4767,33.182,16.8461;ESP6500_TAC=2191,10815	GT:AD:DP:GQ:PL	0/1:18,21:39:99:557,0,426
chr2	217893400	rs1212643556	GCACA	G	2408.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.31;SOR=1.445;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|8/32|c.342+35_342+38delTGTG||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|7/30|c.342+35_342+38delTGTG||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|7/29|c.342+35_342+38delTGTG||||||	GT:AD:DP:GQ:PL	1/0:1,27:28:99:2446,1202,1355
chr2	217893400	.	GCACA	GCGCACACACACA	2408.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.31;SOR=1.445;INS;HET;VARTYPE=INS;ANN=GCGCACACACACA|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|8/32|c.342+37_342+38insGTGTGTGC||||||,GCGCACACACACA|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|7/30|c.342+37_342+38insGTGTGTGC||||||,GCGCACACACACA|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|7/29|c.342+37_342+38insGTGTGTGC||||||	GT:AD:DP:GQ:PL	0/1:1,22:23:99:2446,1243,1206
chr2	217894951	rs2288169	G	C	598.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.284;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.117;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288169;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|7/32|c.219+55C>G||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|6/30|c.219+55C>G||||||,C|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|6/29|c.219+55C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=783;p3_1000G_AF=0.15635;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=20302;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218759674;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=37,1347;ESP6500_AA_GTC=1,35,656;ESP6500_CDS_SIZES=NM_022648.4:5208;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=309,2873;ESP6500_EA_GTC=16,277,1298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022648.4:intron;ESP6500_GL=TNS1;ESP6500_GRCh38_POSITION=2:217894951;ESP6500_GTC=17,312,1954;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_022648.4:c.219+55C>G;ESP6500_MAF=9.7109,2.6734,7.5777;ESP6500_TAC=346,4220	GT:AD:DP:GQ:PL	0/1:26,24:50:99:627,0,670
chr2	217903699	rs3791936	T	G	395.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.261;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.747;SOR=1.398;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3791936;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|MIR6809|MIR6809|transcript|NR_106867.1|pseudogene||n.-3071A>C|||||3071|,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|4/32|c.-55+2636A>C||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|3/30|c.-55+2636A>C||||||,G|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|3/29|c.-55+2636A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2520;p3_1000G_AF=0.503195;p3_1000G_AFR_AF=0.6543;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=21225;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.3608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218768422;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,15:32:99:424,0,436
chr2	217905280	rs7600493	G	A	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.219;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.124;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7600493;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|MIR6809|MIR6809|transcript|NR_106867.1|pseudogene||n.-4652C>T|||||4652|,A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|4/32|c.-55+1055C>T||||||,A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|3/30|c.-55+1055C>T||||||,A|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|3/29|c.-55+1055C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2498;p3_1000G_AF=0.498802;p3_1000G_AFR_AF=0.6536;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=17599;p3_1000G_EAS_AF=0.4246;p3_1000G_EUR_AF=0.3579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218770003;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,18:42:99:428,0,609
chr2	217906261	rs2288170	C	T	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.118;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=5.18;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.484;SOR=0.789;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288170;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|4/32|c.-55+74G>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308022.1|protein_coding|3/30|c.-55+74G>A||||||,T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_001308023.1|protein_coding|3/29|c.-55+74G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=771;p3_1000G_AF=0.153954;p3_1000G_AFR_AF=0.1203;p3_1000G_AMR_AF=0.0634;p3_1000G_AN=5008;p3_1000G_DP=12502;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.0974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218770984;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,15:20:99:380,0,126
chr2	217936862	rs77385765	C	T	429.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.494;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.519;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.26;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77385765;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|1/32|c.-190+7003G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=639;p3_1000G_AF=0.127596;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=22206;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.0099;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218801585;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,16:37:99:458,0,626
chr2	217937044	rs4674232	C	T	1509.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=1.848;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4674232;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TNS1|TNS1|transcript|NM_022648.5|protein_coding|1/32|c.-190+6821G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4993;p3_1000G_AF=0.997005;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=20578;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218801767;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1538,153,0
chr2	218003014	rs74270368	C	T	150.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.622;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.307;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74270368;dbSNPBuildID=130;ANN=T|intergenic_region|MODIFIER|LOC105373878-RUFY4|LOC105373878-RUFY4|intergenic_region|LOC105373878-RUFY4|||n.218003014C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1056;p3_1000G_AF=0.210863;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=8699;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218867737;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:179,0,259
chr2	218070576	rs13385042	T	C	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.477;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=1.37;SOR=0.268;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13385042;dbSNPBuildID=121;ANN=C|5_prime_UTR_variant|MODIFIER|RUFY4|RUFY4|transcript|NM_198483.3|protein_coding|3/13|c.-30T>C|||||30|,C|non_coding_transcript_exon_variant|MODIFIER|RUFY4|RUFY4|transcript|NR_034176.1|pseudogene|5/14|n.1457T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1499;p3_1000G_AF=0.299321;p3_1000G_AFR_AF=0.4713;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=22849;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.1133;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=218935299;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3016;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=604,780;ESP6500_AA_GTC=131,342,219;ESP6500_CDS_SIZES=NM_198483.3:1716;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=65;ESP6500_EA_AC=347,2835;ESP6500_EA_GTC=29,289,1273;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198483.3:utr-5;ESP6500_GL=RUFY4;ESP6500_GRCh38_POSITION=2:218070576;ESP6500_GTC=160,631,1492;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198483.3:c.-30T>C;ESP6500_MAF=10.9051,43.6416,20.8279;ESP6500_TAC=951,3615	GT:AD:DP:GQ:PL	0/1:15,12:27:99:339,0,429
chr2	218135569	rs11574750	C	T	1909.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.108;ClippingRankSum=0;DP=151;ExcessHet=3.0103;FS=6.09;MLEAC=1;MLEAF=0.5;MQ=59.87;MQRankSum=-1.382;QD=12.65;ReadPosRankSum=-0.435;SOR=1.158;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11574750;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|CXCR2|CXCR2|transcript|NM_001168298.1|protein_coding|4/4|c.768C>T|p.Val256Val|978/2662|768/1083|256/360||,T|synonymous_variant|LOW|CXCR2|CXCR2|transcript|NM_001557.3|protein_coding|3/3|c.768C>T|p.Val256Val|1186/2870|768/1083|256/360||;p3_1000G_AA=c|||;p3_1000G_AC=275;p3_1000G_AF=0.0549121;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=20261;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0.0457;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219000292;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=167,4239;ESP6500_AA_AGE=111.2+/-149.4;ESP6500_AA_GTC=5,157,2041;ESP6500_CDS_SIZES=NM_001557.3:1083,NM_001168298.1:1083;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=152;ESP6500_EA_AC=371,8229;ESP6500_EA_AGE=122.5+/-181.5;ESP6500_EA_GTC=8,355,3937;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001557.3:coding-synonymous,NM_001168298.1:coding-synonymous;ESP6500_GL=CXCR2;ESP6500_GRCh38_POSITION=2:218135569;ESP6500_GTC=13,512,5978;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001557.3:c.768C>T,NM_001168298.1:c.768C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001557.3:p.(V256),NM_001168298.1:p.(V256);ESP6500_MAF=4.314,3.7903,4.1366;ESP6500_TAC=538,12468	GT:AD:DP:GQ:PL	0/1:74,77:151:99:1938,0,2008
chr2	218135587	rs2230054	C	T	1948.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.628;ClippingRankSum=0;DP=148;ExcessHet=3.0103;FS=1.313;MLEAC=1;MLEAF=0.5;MQ=59.87;MQRankSum=1.35;QD=13.17;ReadPosRankSum=1.95;SOR=0.579;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230054;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|CXCR2|CXCR2|transcript|NM_001168298.1|protein_coding|4/4|c.786C>T|p.Leu262Leu|996/2662|786/1083|262/360||,T|synonymous_variant|LOW|CXCR2|CXCR2|transcript|NM_001557.3|protein_coding|3/3|c.786C>T|p.Leu262Leu|1204/2870|786/1083|262/360||;p3_1000G_AA=T|||;p3_1000G_AC=2566;p3_1000G_AF=0.51238;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=20598;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.4602;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219000310;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2852,1554;ESP6500_AA_AGE=488.1+/-361.1;ESP6500_AA_GTC=924,1004,275;ESP6500_CDS_SIZES=NM_001557.3:1083,NM_001168298.1:1083;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=125;ESP6500_EA_AC=4308,4292;ESP6500_EA_AGE=576.8+/-390.4;ESP6500_EA_GTC=1043,2222,1035;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001557.3:coding-synonymous,NM_001168298.1:coding-synonymous;ESP6500_GL=CXCR2;ESP6500_GRCh38_POSITION=2:218135587;ESP6500_GTC=1967,3226,1310;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001557.3:c.786C>T,NM_001168298.1:c.786C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001557.3:p.(L262),NM_001168298.1:p.(L262);ESP6500_MAF=49.907,35.2701,44.9485;ESP6500_TAC=7160,5846	GT:AD:DP:GQ:PL	0/1:78,70:148:99:1977,0,2397
chr2	218164209	rs16858808	G	A	785.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.848;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.461;SOR=0.713;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16858808;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|CXCR1|CXCR1|transcript|NM_000634.2|protein_coding|2/2|c.1003C>T|p.Arg335Cys|1122/2486|1003/1053|335/350||;p3_1000G_AA=G|||;p3_1000G_AC=115;p3_1000G_AF=0.0229633;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=23990;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.0368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219028932;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=25,4381;ESP6500_AA_AGE=31.7+/-61.6;ESP6500_AA_GTC=0,25,2178;ESP6500_CDS_SIZES=NM_000634.2:1053;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=128;ESP6500_EA_AC=270,8330;ESP6500_EA_AGE=103.8+/-164.8;ESP6500_EA_GTC=2,266,4032;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000634.2:missense;ESP6500_GL=CXCR1;ESP6500_GRCh38_POSITION=2:218164209;ESP6500_GS=180;ESP6500_GTC=2,291,6210;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000634.2:c.1003C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000634.2:p.(R335C);ESP6500_MAF=3.1395,0.5674,2.2682;ESP6500_PH=probably-damaging:0.975;ESP6500_TAC=295,12711	GT:AD:DP:GQ:PL	0/1:45,35:80:99:814,0,1202
chr2	218165120	rs16858811	A	C	856.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.71;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.262;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16858811;dbSNPBuildID=123;ANN=C|missense_variant|MODERATE|CXCR1|CXCR1|transcript|NM_000634.2|protein_coding|2/2|c.92T>G|p.Met31Arg|211/2486|92/1053|31/350||;p3_1000G_AA=C|||;p3_1000G_AC=199;p3_1000G_AF=0.0397364;p3_1000G_AFR_AF=0.056;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=24044;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.0368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219029843;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=243,4163;ESP6500_AA_AGE=804.3+/-415.7;ESP6500_AA_GTC=7,229,1967;ESP6500_CDS_SIZES=NM_000634.2:1053;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=198;ESP6500_EA_AC=281,8319;ESP6500_EA_AGE=806.8+/-407.2;ESP6500_EA_GTC=3,275,4022;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000634.2:missense;ESP6500_GL=CXCR1;ESP6500_GRCh38_POSITION=2:218165120;ESP6500_GS=91;ESP6500_GTC=10,504,5989;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_000634.2:c.92T>G;ESP6500_HGVS_PROTEIN_VAR=NM_000634.2:p.(M31R);ESP6500_MAF=3.2674,5.5152,4.0289;ESP6500_PH=benign:0.0;ESP6500_TAC=524,12482	GT:AD:DP:GQ:PL	0/1:39,31:70:99:885,0,1066
chr2	218234537	rs1018288	G	C	181.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1018288;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ARPC2|ARPC2|transcript|NM_005731.3|protein_coding|4/9|c.268+140G>C||||||,C|intron_variant|MODIFIER|ARPC2|ARPC2|transcript|NM_152862.2|protein_coding|5/10|c.268+140G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4638;p3_1000G_AF=0.926118;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=17062;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219099260;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:210,15,0
chr2	218263783	rs2292549	C	T	527.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.32;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292549;dbSNPBuildID=100;ANN=T|3_prime_UTR_variant|MODIFIER|GPBAR1|GPBAR1|transcript|NM_001077191.1|protein_coding|2/2|c.*66C>T|||||66|,T|3_prime_UTR_variant|MODIFIER|GPBAR1|GPBAR1|transcript|NM_001321950.1|protein_coding|2/2|c.*66C>T|||||66|,T|3_prime_UTR_variant|MODIFIER|GPBAR1|GPBAR1|transcript|NM_001077194.1|protein_coding|2/2|c.*66C>T|||||66|,T|3_prime_UTR_variant|MODIFIER|GPBAR1|GPBAR1|transcript|NM_170699.2|protein_coding|2/2|c.*66C>T|||||66|,T|downstream_gene_variant|MODIFIER|AAMP|AAMP|transcript|NM_001302545.1|protein_coding||c.*750G>A|||||346|,T|downstream_gene_variant|MODIFIER|AAMP|AAMP|transcript|NM_001087.4|protein_coding||c.*750G>A|||||346|;p3_1000G_AA=T|||;p3_1000G_AC=3950;p3_1000G_AF=0.788738;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.9092;p3_1000G_AN=5008;p3_1000G_DP=18288;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219128506;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:556,54,0
chr2	218275565	rs2292550	G	C	1824.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.46;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292550;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|13/13|c.846C>G|p.Pro282Pro|1572/2945|846/936|282/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|12/12|c.846C>G|p.Pro282Pro|983/2356|846/936|282/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|13/13|c.846C>G|p.Pro282Pro|1159/2532|846/936|282/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|13/13|c.846C>G|p.Pro282Pro|1099/2472|846/936|282/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|12/12|c.846C>G|p.Pro282Pro|923/2296|846/936|282/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|13/13|c.846C>G|p.Pro282Pro|1096/2469|846/936|282/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|13/13|c.846C>G|p.Pro282Pro|1170/2543|846/936|282/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|13/13|c.846C>G|p.Pro282Pro|1174/2547|846/936|282/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|11/11|c.513C>G|p.Pro171Pro|933/2306|513/603|171/200||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|12/12|c.846C>G|p.Pro282Pro|998/2371|846/936|282/311||,C|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*4560C>G|||||4560|,C|downstream_gene_variant|MODIFIER|PNKD|PNKD|transcript|NM_001077399.2|protein_coding||c.*2803G>C|||||2618|,C|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+4016G>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|11/11|n.756C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1663;p3_1000G_AF=0.332069;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=20834;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219140288;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1183,3223;ESP6500_AA_AGE=710.7+/-407.9;ESP6500_AA_GTC=160,863,1180;ESP6500_CDS_SIZES=NM_022152.4:936,NM_015488.4:1158;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=182;ESP6500_EA_AC=3535,5065;ESP6500_EA_AGE=630.6+/-398.4;ESP6500_EA_GTC=712,2111,1477;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022152.4:coding-synonymous,NM_015488.4:intron;ESP6500_GL=PNKD,TMBIM1;ESP6500_GRCh38_POSITION=2:218275565;ESP6500_GTC=872,2974,2657;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_022152.4:c.846C>G,NM_015488.4:c.236+4016G>C;ESP6500_HGVS_PROTEIN_VAR=NM_022152.4:p.(P282),.;ESP6500_MAF=41.1047,26.8498,36.2756;ESP6500_TAC=4718,8288	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1853,174,0
chr2	218277300	rs2168703	G	A	640.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.72;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2168703;dbSNPBuildID=96;ANN=A|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*2825C>T|||||2825|,A|downstream_gene_variant|MODIFIER|PNKD|PNKD|transcript|NM_001077399.2|protein_coding||c.*4538G>A|||||4353|,A|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+5751G>A||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|10/12|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|9/11|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|10/12|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|10/12|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|9/11|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|10/12|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|10/12|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|10/12|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|8/10|c.306+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|9/11|c.639+66C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|8/10|n.549+66C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4801;p3_1000G_AF=0.958666;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18660;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219142023;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:669,57,0
chr2	218277768	rs2271543	C	T	692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271543;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*2357G>A|||||2357|,T|downstream_gene_variant|MODIFIER|PNKD|PNKD|transcript|NM_001077399.2|protein_coding||c.*5006C>T|||||4821|,T|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+6219C>T||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|8/12|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|7/11|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|8/12|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|8/12|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|7/11|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|8/12|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|8/12|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|8/12|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|6/10|c.181-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|7/11|c.514-98G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|6/10|n.424-98G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1637;p3_1000G_AF=0.326877;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=18421;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.3688;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219142491;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:721,66,0
chr2	218277871	rs3817266	C	T	711.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817266;dbSNPBuildID=107;ANN=T|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*2254G>A|||||2254|,T|downstream_gene_variant|MODIFIER|PNKD|PNKD|transcript|NM_001077399.2|protein_coding||c.*5109C>T|||||4924|,T|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+6322C>T||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|8/12|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|7/11|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|8/12|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|8/12|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|7/11|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|8/12|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|8/12|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|8/12|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|6/10|c.180+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|7/11|c.513+64G>A||||||,T|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|6/10|n.423+64G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1641;p3_1000G_AF=0.327676;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=20017;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219142594;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=325,1059;ESP6500_AA_GTC=36,253,403;ESP6500_CDS_SIZES=NM_022152.4:936,NM_015488.4:1158;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=50;ESP6500_EA_AC=1310,1872;ESP6500_EA_GTC=263,784,544;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022152.4:intron,NM_015488.4:intron;ESP6500_GL=PNKD,TMBIM1;ESP6500_GRCh38_POSITION=2:218277871;ESP6500_GTC=299,1037,947;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022152.4:c.513+64G>A,NM_015488.4:c.236+6322C>T;ESP6500_MAF=41.1691,23.4827,35.8081;ESP6500_TAC=1635,2931	GT:AD:DP:GQ:PL	1/1:0,24:24:72:740,72,0
chr2	218278506	rs2292551	G	A	1834.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292551;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*1619C>T|||||1619|,A|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+6957G>A||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|7/12|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|6/11|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|7/12|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|7/12|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|6/11|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|7/12|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|7/12|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|7/12|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|5/10|c.140+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|6/11|c.473+9C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|5/10|n.383+9C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1639;p3_1000G_AF=0.327276;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19421;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219143229;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1113,3293;ESP6500_AA_AGE=399.0+/-331.0;ESP6500_AA_GTC=136,841,1226;ESP6500_CDS_SIZES=NM_022152.4:936,NM_015488.4:1158;ESP6500_CG=-0.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=87;ESP6500_EA_AC=3535,5065;ESP6500_EA_AGE=514.9+/-378.5;ESP6500_EA_GTC=711,2113,1476;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022152.4:intron,NM_015488.4:intron;ESP6500_GL=PNKD,TMBIM1;ESP6500_GRCh38_POSITION=2:218278506;ESP6500_GTC=847,2954,2702;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022152.4:c.473+9C>T,NM_015488.4:c.236+6957G>A;ESP6500_MAF=41.1047,25.261,35.7374;ESP6500_TAC=4648,8358	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1863,180,0
chr2	218278604	rs2292552	T	C	1783.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs369415109,rs2292552;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*1521A>G|||||1521|,C|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+7055T>C||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|6/12|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|5/11|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|6/12|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|6/12|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|5/11|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|6/12|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|6/12|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|6/12|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|4/10|c.90-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|5/11|c.423-39A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|4/10|n.333-39A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1639;p3_1000G_AF=0.327276;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19065;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.3698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219143327;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1113,3293;ESP6500_AA_AGE=718.4+/-408.8;ESP6500_AA_GTC=136,841,1226;ESP6500_CDS_SIZES=NM_022152.4:936,NM_015488.4:1158;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=69;ESP6500_EA_AC=3536,5064;ESP6500_EA_AGE=630.7+/-398.4;ESP6500_EA_GTC=712,2112,1476;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022152.4:intron,NM_015488.4:intron;ESP6500_GL=PNKD,TMBIM1;ESP6500_GRCh38_POSITION=2:218278604;ESP6500_GTC=848,2953,2702;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022152.4:c.423-39A>G,NM_015488.4:c.236+7055T>C;ESP6500_MAF=41.1163,25.261,35.745;ESP6500_TAC=4649,8357	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1812,162,0
chr2	218279366	rs12987180	G	A	1509.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12987180;dbSNPBuildID=121;ANN=A|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*759C>T|||||759|,A|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+7817G>A||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|4/12|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|3/11|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|4/12|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|4/12|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|3/11|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|4/12|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|4/12|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|4/12|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|3/10|c.36-275C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|3/11|c.304-13C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|2/10|n.214-13C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1638;p3_1000G_AF=0.327077;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19308;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219144089;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1113,3293;ESP6500_AA_AGE=397.9+/-330.6;ESP6500_AA_GTC=137,839,1227;ESP6500_CDS_SIZES=NM_022152.4:936,NM_015488.4:1158;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=71;ESP6500_EA_AC=3534,5066;ESP6500_EA_AGE=513.1+/-378.1;ESP6500_EA_GTC=710,2114,1476;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022152.4:intron,NM_015488.4:intron;ESP6500_GL=PNKD,TMBIM1;ESP6500_GRCh38_POSITION=2:218279366;ESP6500_GTC=847,2953,2703;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022152.4:c.304-13C>T,NM_015488.4:c.236+7817G>A;ESP6500_MAF=41.093,25.261,35.7297;ESP6500_TAC=4647,8359	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1538,147,0
chr2	218279426	rs12987219	G	A	888.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.65;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12987219;dbSNPBuildID=121;ANN=A|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*699C>T|||||699|,A|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+7877G>A||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|4/12|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|3/11|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|4/12|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|4/12|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|3/11|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|4/12|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|4/12|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|4/12|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|3/10|c.36-335C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|3/11|c.304-73C>T||||||,A|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|2/10|n.214-73C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1652;p3_1000G_AF=0.329872;p3_1000G_AFR_AF=0.1959;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=18323;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.3698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219144149;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:917,87,0
chr2	218280092	rs2045435	T	C	2407.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.87;SOR=0.744;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2045435;dbSNPBuildID=94;ANN=C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|4/13|c.237A>G|p.Ala79Ala|963/2945|237/936|79/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|3/12|c.237A>G|p.Ala79Ala|374/2356|237/936|79/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|4/13|c.237A>G|p.Ala79Ala|550/2532|237/936|79/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|4/13|c.237A>G|p.Ala79Ala|490/2472|237/936|79/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|3/12|c.237A>G|p.Ala79Ala|314/2296|237/936|79/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|4/13|c.237A>G|p.Ala79Ala|487/2469|237/936|79/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|4/13|c.237A>G|p.Ala79Ala|561/2543|237/936|79/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|4/13|c.237A>G|p.Ala79Ala|565/2547|237/936|79/311||,C|synonymous_variant|LOW|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|3/12|c.237A>G|p.Ala79Ala|389/2371|237/936|79/311||,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|3/11|c.-32A>G|||||32|,C|downstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.*33A>G|||||33|,C|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+8543T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|2/11|n.147A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4975;p3_1000G_AF=0.993411;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18916;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219144815;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4358,48;ESP6500_AA_AGE=49.6+/-84.7;ESP6500_AA_GTC=2155,48,0;ESP6500_CDS_SIZES=NM_022152.4:936,NM_015488.4:1158;ESP6500_CG=-2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=128;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022152.4:coding-synonymous,NM_015488.4:intron;ESP6500_GL=PNKD,TMBIM1;ESP6500_GRCh38_POSITION=2:218280092;ESP6500_GTC=6455,48,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022152.4:c.237A>G,NM_015488.4:c.236+8543T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022152.4:p.(A79),.;ESP6500_MAF=0.0,1.0894,0.3691;ESP6500_TAC=12958,48	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2436,234,0
chr2	218281884	rs7585702	T	C	558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7585702;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.-1696A>G|||||1696|,C|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+10335T>C||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|3/12|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|2/11|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|3/12|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|3/12|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|2/11|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|3/12|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|3/12|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|3/12|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|2/10|c.-67+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|2/11|c.202+56A>G||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|1/10|n.113-1758A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1640;p3_1000G_AF=0.327476;p3_1000G_AFR_AF=0.1959;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=17630;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.3698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219146607;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:587,54,0
chr2	218282145	rs2292554	T	C	535.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292554;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|3/13|c.-4A>G|||||4|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|2/12|c.-4A>G|||||4|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|3/13|c.-4A>G|||||4|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|3/13|c.-4A>G|||||4|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|2/12|c.-4A>G|||||4|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|3/13|c.-4A>G|||||4|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|3/13|c.-4A>G|||||4|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|3/13|c.-4A>G|||||4|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|2/11|c.-272A>G|||||2085|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|2/12|c.-4A>G|||||4|,C|upstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.-1957A>G|||||1957|,C|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+10596T>C||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|1/10|n.113-2019A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1677;p3_1000G_AF=0.334864;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=15620;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219146868;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1193,3205;ESP6500_AA_GTC=163,867,1169;ESP6500_CDS_SIZES=NM_022152.4:936,NM_015488.4:1158;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=26;ESP6500_EA_AC=3474,5122;ESP6500_EA_GTC=700,2074,1524;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022152.4:utr-5,NM_015488.4:intron;ESP6500_GL=PNKD,TMBIM1;ESP6500_GRCh38_POSITION=2:218282145;ESP6500_GTC=863,2941,2693;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022152.4:c.-4A>G,NM_015488.4:c.236+10596T>C;ESP6500_MAF=40.4141,27.126,35.9166;ESP6500_TAC=4667,8327	GT:AD:DP:GQ:PL	1/1:0,15:15:45:564,45,0
chr2	218282159	rs2292555	G	C	590.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.82;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292555;dbSNPBuildID=100;ANN=C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321427.1|protein_coding|3/13|c.-18C>G|||||18|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321428.1|protein_coding|2/12|c.-18C>G|||||18|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321429.1|protein_coding|3/13|c.-18C>G|||||18|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321430.1|protein_coding|3/13|c.-18C>G|||||18|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321432.1|protein_coding|2/12|c.-18C>G|||||18|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321433.1|protein_coding|3/13|c.-18C>G|||||18|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321435.1|protein_coding|3/13|c.-18C>G|||||18|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321436.1|protein_coding|3/13|c.-18C>G|||||18|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_001321438.1|protein_coding|2/11|c.-286C>G|||||2099|,C|5_prime_UTR_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NM_022152.5|protein_coding|2/12|c.-18C>G|||||18|,C|upstream_gene_variant|MODIFIER|MIR6513|MIR6513|transcript|NR_106768.1|pseudogene||n.-1971C>G|||||1971|,C|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.236+10610G>C||||||,C|intron_variant|MODIFIER|TMBIM1|TMBIM1|transcript|NR_135643.1|pseudogene|1/10|n.113-2033C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1609;p3_1000G_AF=0.321286;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=15505;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.3698;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219146882;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=946,3446;ESP6500_AA_GTC=127,692,1377;ESP6500_CDS_SIZES=NM_022152.4:936,NM_015488.4:1158;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=20;ESP6500_EA_AC=3394,5186;ESP6500_EA_GTC=685,2024,1581;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022152.4:utr-5,NM_015488.4:intron;ESP6500_GL=PNKD,TMBIM1;ESP6500_GRCh38_POSITION=2:218282159;ESP6500_GTC=812,2716,2958;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_022152.4:c.-18C>G,NM_015488.4:c.236+10610G>C;ESP6500_MAF=39.5571,21.5392,33.4567;ESP6500_TAC=4340,8632	GT:AD:DP:GQ:PL	1/1:0,18:18:54:619,54,0
chr2	218323178	rs1870125	C	T	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1870125;dbSNPBuildID=92;ANN=T|upstream_gene_variant|MODIFIER|PNKD|PNKD|transcript|NM_022572.4|protein_coding||c.-90C>T|||||1|,T|downstream_gene_variant|MODIFIER|CATIP-AS2|CATIP-AS2|transcript|NR_125777.1|pseudogene||n.*3063G>A|||||3063|,T|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|2/9|c.237-16605C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2368;p3_1000G_AF=0.472843;p3_1000G_AFR_AF=0.0847;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=8033;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219187901;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6176;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:34:64,0,34
chr2	218342196	rs3816562	C	T	872.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=2.753;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816562;dbSNPBuildID=107;ANN=T|downstream_gene_variant|MODIFIER|MIR6810|MIR6810|transcript|NR_106868.1|pseudogene||n.*216C>T|||||216|,T|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|7/9|c.781+52C>T||||||,T|intron_variant|MODIFIER|CATIP-AS2|CATIP-AS2|transcript|NR_125777.1|pseudogene|2/3|n.120+8964G>A||||||,T|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_022572.4|protein_coding|6/8|c.709+52C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=2404;p3_1000G_AF=0.480032;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=18868;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.5338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219206919;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP;ESP6500_AA_AC=621,2033;ESP6500_AA_GTC=79,463,785;ESP6500_CDS_SIZES=NM_022572.4:1086,NM_015488.4:1158;ESP6500_CG=1.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=18;ESP6500_EA_AC=2426,2190;ESP6500_EA_GTC=647,1132,529;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022572.4:intron,NM_015488.4:intron;ESP6500_GL=PNKD;ESP6500_GRCh38_POSITION=2:218342196;ESP6500_GTC=726,1595,1314;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022572.4:c.709+52C>T,NM_015488.4:c.781+52C>T;ESP6500_MAF=47.4437,23.3986,41.912;ESP6500_TAC=3047,4223	GT:AD:DP:GQ:PL	1/1:0,25:25:75:901,75,0
chr2	218344670	rs1350336	A	G	1695.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=1.007;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1350336;dbSNPBuildID=88;ANN=G|downstream_gene_variant|MODIFIER|MIR6810|MIR6810|transcript|NR_106868.1|pseudogene||n.*2690A>G|||||2690|,G|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_015488.4|protein_coding|9/9|c.984+100A>G||||||,G|intron_variant|MODIFIER|CATIP-AS2|CATIP-AS2|transcript|NR_125777.1|pseudogene|2/3|n.120+6490T>C||||||,G|intron_variant|MODIFIER|PNKD|PNKD|transcript|NM_022572.4|protein_coding|8/8|c.912+100A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4959;p3_1000G_AF=0.990216;p3_1000G_AFR_AF=0.9629;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15659;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219209393;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1724,147,0
chr2	218357259	rs1208756536	GTC	G	110.86	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-0.21;SOR=1.872;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|CATIP-AS2|CATIP-AS2|transcript|NR_125777.1|pseudogene|1/3|n.53+653_53+654delGA||||||,G|intron_variant|MODIFIER|CATIP|CATIP|transcript|NM_001320865.1|protein_coding|2/9|c.151+102_151+103delCT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CATIP|CATIP|transcript|NM_198559.1|protein_coding|2/9|c.118+102_118+103delCT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,5:6:2:146,0,2
chr2	218367084	rs3845833	C	T	1089.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3845833;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|CATIP|CATIP|transcript|NM_001320865.1|protein_coding|8/10|c.849C>T|p.Pro283Pro|878/1356|849/1197|283/398||,T|synonymous_variant|LOW|CATIP|CATIP|transcript|NM_198559.1|protein_coding|8/10|c.816C>T|p.Pro272Pro|845/1323|816/1164|272/387||,T|intron_variant|MODIFIER|CATIP-AS1|CATIP-AS1|transcript|NR_110573.1|pseudogene|1/2|n.313-57G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4974;p3_1000G_AF=0.993211;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19135;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219231807;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4369,37;ESP6500_AA_AGE=41.6+/-74.8;ESP6500_AA_GTC=2166,37,0;ESP6500_CDS_SIZES=NM_198559.1:1164;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=56;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198559.1:coding-synonymous;ESP6500_GL=C2orf62;ESP6500_GRCh38_POSITION=2:218367084;ESP6500_GTC=6462,41,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198559.1:c.816C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198559.1:p.(P272);ESP6500_MAF=0.0465,0.8398,0.3152;ESP6500_TAC=12965,41	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1118,105,0
chr2	218367631	rs7608923	C	A	853.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7608923;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CATIP|CATIP|transcript|NM_001320865.1|protein_coding|9/9|c.955-91C>A||||||,A|intron_variant|MODIFIER|CATIP|CATIP|transcript|NM_198559.1|protein_coding|9/9|c.922-91C>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|CATIP-AS1|CATIP-AS1|transcript|NR_110573.1|pseudogene|1/3|n.272G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2663;p3_1000G_AF=0.531749;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=14939;p3_1000G_EAS_AF=0.7103;p3_1000G_EUR_AF=0.6083;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219232354;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:882,69,0
chr2	218383067	rs7576974	C	T	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.326;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=1.65;SOR=0.709;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7576974;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|SLC11A1|SLC11A1|transcript|NM_000578.3|protein_coding|2/15|c.115C>T|p.Leu39Leu|455/3852|115/1653|39/550||;p3_1000G_AA=C|||;p3_1000G_AC=275;p3_1000G_AF=0.0549121;p3_1000G_AFR_AF=0.1747;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=17092;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219247790;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0215;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=602,3804;ESP6500_AA_AGE=259.2+/-262.9;ESP6500_AA_GTC=44,514,1645;ESP6500_CDS_SIZES=NM_000578.3:1653;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=52;ESP6500_EA_AC=24,8576;ESP6500_EA_AGE=16.0+/-53.3;ESP6500_EA_GTC=0,24,4276;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000578.3:coding-synonymous;ESP6500_GL=SLC11A1;ESP6500_GRCh38_POSITION=2:218383067;ESP6500_GTC=44,538,5921;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000578.3:c.115C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000578.3:p.(L39);ESP6500_MAF=0.2791,13.6632,4.8132;ESP6500_TAC=626,12380	GT:AD:DP:GQ:PL	0/1:24,18:42:99:411,0,550
chr2	218387654	rs2290708	C	T	556.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.96;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.245;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290708;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SLC11A1|SLC11A1|transcript|NM_000578.3|protein_coding|7/14|c.639+22C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=741;p3_1000G_AF=0.147963;p3_1000G_AFR_AF=0.1165;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=16713;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.2505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219252377;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1288;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=570,3836;ESP6500_AA_AGE=252.7+/-259.0;ESP6500_AA_GTC=42,486,1675;ESP6500_CDS_SIZES=NM_000578.3:1653;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=152;ESP6500_EA_AC=2283,6317;ESP6500_EA_AGE=383.6+/-340.8;ESP6500_EA_GTC=307,1669,2324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000578.3:intron;ESP6500_GL=SLC11A1;ESP6500_GRCh38_POSITION=2:218387654;ESP6500_GTC=349,2155,3999;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000578.3:c.639+22C>T;ESP6500_MAF=26.5465,12.9369,21.936;ESP6500_TAC=2853,10153	GT:AD:DP:GQ:PL	0/1:18,20:38:99:585,0,499
chr2	218389899	rs2695342	A	G	1811.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=0.796;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2695342;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|SLC11A1|SLC11A1|transcript|NM_000578.3|protein_coding|9/15|c.825A>G|p.Ala275Ala|1165/3852|825/1653|275/550||;p3_1000G_AA=G|||;p3_1000G_AC=4931;p3_1000G_AF=0.984625;p3_1000G_AFR_AF=0.944;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19705;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219254622;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4242,164;ESP6500_AA_AGE=109.5+/-147.8;ESP6500_AA_GTC=2041,160,2;ESP6500_CDS_SIZES=NM_000578.3:1653;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=128;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000578.3:coding-synonymous;ESP6500_GL=SLC11A1;ESP6500_GRCh38_POSITION=2:218389899;ESP6500_GTC=6337,164,2;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000578.3:c.825A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000578.3:p.(A275);ESP6500_MAF=0.0465,3.7222,1.2917;ESP6500_TAC=12838,168	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1840,177,0
chr2	218392965	rs2045433	T	C	1354.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=1.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2045433;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|SLC11A1|SLC11A1|transcript|NM_000578.3|protein_coding|11/14|c.1165-16T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4942;p3_1000G_AF=0.986821;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17438;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219257688;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4294,112;ESP6500_AA_AGE=84.8+/-123.5;ESP6500_AA_GTC=2091,112,0;ESP6500_CDS_SIZES=NM_000578.3:1653;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=48;ESP6500_EA_AC=8596,4;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000578.3:intron;ESP6500_GL=SLC11A1;ESP6500_GRCh38_POSITION=2:218392965;ESP6500_GTC=6387,116,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000578.3:c.1165-16T>C;ESP6500_MAF=0.0465,2.542,0.8919;ESP6500_TAC=12890,116	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1383,135,0
chr2	218398554	rs2695344	A	G	139.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2695344;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_021198.2|protein_coding||c.-1537A>G|||||1201|,G|upstream_gene_variant|MODIFIER|MIR26B|MIR26B|transcript|NR_029500.1|pseudogene||n.-4092A>G|||||4092|,G|upstream_gene_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_182642.2|protein_coding||c.-1537A>G|||||1201|,G|downstream_gene_variant|MODIFIER|SLC11A1|SLC11A1|transcript|NM_000578.3|protein_coding||c.*3519A>G|||||1660|,G|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_001206878.1|protein_coding|1/6|c.67+75A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4901;p3_1000G_AF=0.978634;p3_1000G_AFR_AF=0.9206;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=8077;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219263277;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:167,12,0
chr2	218400371	rs2579958	T	C	202.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.35;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2579958;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|MIR26B|MIR26B|transcript|NR_029500.1|pseudogene||n.-2275T>C|||||2275|,C|downstream_gene_variant|MODIFIER|SLC11A1|SLC11A1|transcript|NM_000578.3|protein_coding||c.*5336T>C|||||3477|,C|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_021198.2|protein_coding|1/6|c.67+214T>C||||||,C|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_001206878.1|protein_coding|1/6|c.68-1193T>C||||||,C|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_182642.2|protein_coding|1/6|c.67+214T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4903;p3_1000G_AF=0.979034;p3_1000G_AFR_AF=0.9221;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=6933;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219265094;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:231,24,0
chr2	218400413	rs11463820	T	TC	224.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=0.941;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11463820;dbSNPBuildID=130;ANN=TC|upstream_gene_variant|MODIFIER|MIR26B|MIR26B|transcript|NR_029500.1|pseudogene||n.-2233_-2232insC|||||2232|,TC|downstream_gene_variant|MODIFIER|SLC11A1|SLC11A1|transcript|NM_000578.3|protein_coding||c.*5378_*5379insC|||||3520|,TC|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_021198.2|protein_coding|1/6|c.67+257dupC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_001206878.1|protein_coding|1/6|c.68-1150dupC||||||INFO_REALIGN_3_PRIME,TC|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_182642.2|protein_coding|1/6|c.67+257dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=7665;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219265136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:262,21,0
chr2	218401481	rs2252235	T	C	422.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.03;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2252235;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|MIR26B|MIR26B|transcript|NR_029500.1|pseudogene||n.-1165T>C|||||1165|,C|downstream_gene_variant|MODIFIER|SLC11A1|SLC11A1|transcript|NM_000578.3|protein_coding||c.*6446T>C|||||4587|,C|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_021198.2|protein_coding|1/6|c.68-83T>C||||||,C|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_001206878.1|protein_coding|1/6|c.68-83T>C||||||,C|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_182642.2|protein_coding|1/6|c.68-83T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2755;p3_1000G_AF=0.55012;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.611;p3_1000G_AN=5008;p3_1000G_DP=17560;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.6262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219266204;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6094;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:451,36,0
chr2	218403058	rs2227255	C	T	1397.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2227255;dbSNPBuildID=96;ANN=T|synonymous_variant|LOW|CTDSP1|CTDSP1|transcript|NM_021198.2|protein_coding|5/7|c.402C>T|p.His134His|738/2638|402/786|134/261||,T|synonymous_variant|LOW|CTDSP1|CTDSP1|transcript|NM_001206878.1|protein_coding|5/7|c.399C>T|p.His133His|474/2374|399/783|133/260||,T|synonymous_variant|LOW|CTDSP1|CTDSP1|transcript|NM_182642.2|protein_coding|5/7|c.399C>T|p.His133His|735/2635|399/783|133/260||,T|downstream_gene_variant|MODIFIER|MIR26B|MIR26B|transcript|NR_029500.1|pseudogene||n.*336C>T|||||336|;p3_1000G_AA=C|||;p3_1000G_AC=2331;p3_1000G_AF=0.465455;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=13304;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.6163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219267781;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=597,3809;ESP6500_AA_AGE=262.8+/-265.1;ESP6500_AA_GTC=39,519,1645;ESP6500_CDS_SIZES=NM_182642.2:783,NM_021198.2:786,NM_001206878.1:783;ESP6500_CG=-2.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=66;ESP6500_EA_AC=5248,3352;ESP6500_EA_AGE=642.6+/-399.8;ESP6500_EA_GTC=1604,2040,656;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182642.2:coding-synonymous,NM_021198.2:coding-synonymous,NM_001206878.1:coding-synonymous;ESP6500_GL=CTDSP1;ESP6500_GRCh38_POSITION=2:218403058;ESP6500_GTC=1643,2559,2301;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182642.2:c.399C>T,NM_021198.2:c.402C>T,NM_001206878.1:c.399C>T;ESP6500_HGVS_PROTEIN_VAR=NM_182642.2:p.(H133),NM_021198.2:p.(H134),NM_001206878.1:p.(H133);ESP6500_MAF=38.9767,13.5497,44.9408;ESP6500_TAC=5845,7161	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1426,134,0
chr2	218403190	rs2227258	A	G	1619.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.46;SOR=0.919;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2227258;dbSNPBuildID=96;ANN=G|downstream_gene_variant|MODIFIER|MIR26B|MIR26B|transcript|NR_029500.1|pseudogene||n.*468A>G|||||468|,G|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_021198.2|protein_coding|5/6|c.472-42A>G||||||,G|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_001206878.1|protein_coding|5/6|c.469-42A>G||||||,G|intron_variant|MODIFIER|CTDSP1|CTDSP1|transcript|NM_182642.2|protein_coding|5/6|c.469-42A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2771;p3_1000G_AF=0.553315;p3_1000G_AFR_AF=0.3215;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=14163;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.6183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219267913;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6115;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1681,2725;ESP6500_AA_AGE=507.6+/-366.7;ESP6500_AA_GTC=321,1039,843;ESP6500_CDS_SIZES=NM_182642.2:783,NM_021198.2:786,NM_001206878.1:783;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=53;ESP6500_EA_AC=5292,3308;ESP6500_EA_AGE=643.1+/-399.9;ESP6500_EA_GTC=1629,2034,637;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182642.2:intron,NM_021198.2:intron,NM_001206878.1:intron;ESP6500_GL=CTDSP1;ESP6500_GRCh38_POSITION=2:218403190;ESP6500_GTC=1950,3073,1480;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182642.2:c.469-42A>G,NM_021198.2:c.472-42A>G,NM_001206878.1:c.469-42A>G;ESP6500_MAF=38.4651,38.1525,46.3863;ESP6500_TAC=6973,6033	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1648,141,0
chr2	218423659	rs4672893	A	G	267.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672893;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|VIL1|VIL1|transcript|NM_007127.2|protein_coding|1/19|c.-11-109A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4751;p3_1000G_AF=0.948682;p3_1000G_AFR_AF=0.8147;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17794;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219288382;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:296,24,0
chr2	218429535	rs6720403	A	C	1132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.019;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0.886;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.814;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6720403;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|VIL1|VIL1|transcript|NM_007127.2|protein_coding|7/19|c.770+48A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1350;p3_1000G_AF=0.269569;p3_1000G_AFR_AF=0.2829;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=17350;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.3767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219294258;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1322,3084;ESP6500_AA_AGE=683.9+/-404.3;ESP6500_AA_GTC=203,916,1084;ESP6500_CDS_SIZES=NM_007127.2:2484;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=50;ESP6500_EA_AC=3292,5308;ESP6500_EA_AGE=634.5+/-398.9;ESP6500_EA_GTC=662,1968,1670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007127.2:intron;ESP6500_GL=VIL1;ESP6500_GRCh38_POSITION=2:218429535;ESP6500_GTC=865,2884,2754;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_007127.2:c.770+48A>C;ESP6500_MAF=38.2791,30.0045,35.4759;ESP6500_TAC=4614,8392	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1161,0,743
chr2	218431112	rs4674307	G	A	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.247;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=5.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.444;SOR=0.075;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4674307;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|VIL1|VIL1|transcript|NM_007127.2|protein_coding|10/19|c.1102+234G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2528;p3_1000G_AF=0.504792;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=19014;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.5934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219295835;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,17:26:99:450,0,303
chr2	218431822	rs17572485	G	A	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.609;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.27;SOR=0.549;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17572485;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|VIL1|VIL1|transcript|NM_007127.2|protein_coding|10/19|c.1103-35G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1342;p3_1000G_AF=0.267971;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=21895;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.3767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219296545;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1325,3081;ESP6500_AA_AGE=423.2+/-340.0;ESP6500_AA_GTC=198,929,1076;ESP6500_CDS_SIZES=NM_007127.2:2484;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=52;ESP6500_EA_AC=3302,5298;ESP6500_EA_AGE=462.0+/-365.6;ESP6500_EA_GTC=671,1960,1669;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007127.2:intron;ESP6500_GL=VIL1;ESP6500_GRCh38_POSITION=2:218431822;ESP6500_GTC=869,2889,2745;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007127.2:c.1103-35G>A;ESP6500_MAF=38.3953,30.0726,35.5759;ESP6500_TAC=4627,8379	GT:AD:DP:GQ:PL	0/1:23,14:37:99:294,0,726
chr2	218440681	rs2305833	G	C	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.118;SOR=0.837;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305833;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|VIL1|VIL1|transcript|NM_007127.2|protein_coding|18/19|c.2230-41G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2523;p3_1000G_AF=0.503794;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=18815;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.5915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219305404;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=705,3701;ESP6500_AA_AGE=294.4+/-283.1;ESP6500_AA_GTC=57,591,1555;ESP6500_CDS_SIZES=NM_007127.2:2484;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=53;ESP6500_EA_AC=4951,3649;ESP6500_EA_AGE=619.8+/-397.0;ESP6500_EA_GTC=1445,2061,794;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007127.2:intron;ESP6500_GL=VIL1;ESP6500_GRCh38_POSITION=2:218440681;ESP6500_GTC=1502,2652,2349;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007127.2:c.2230-41G>C;ESP6500_MAF=42.4302,16.0009,43.4876;ESP6500_TAC=5656,7350	GT:AD:DP:GQ:PL	0/1:18,23:41:99:673,0,469
chr2	218454934	rs6436058	A	G	1210.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.096;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436058;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|USP37|USP37|transcript|NM_020935.2|protein_coding|26/26|c.2936T>C|p.Leu979Ser|3349/8032|2936/2940|979/979||;p3_1000G_AA=G|||;p3_1000G_AC=4927;p3_1000G_AF=0.983826;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18824;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219319657;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4269,137;ESP6500_AA_AGE=98.0+/-136.7;ESP6500_AA_GTC=2066,137,0;ESP6500_CDS_SIZES=NM_020935.2:2940;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=134;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020935.2:missense;ESP6500_GL=USP37;ESP6500_GRCh38_POSITION=2:218454934;ESP6500_GS=145;ESP6500_GTC=6366,137,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020935.2:c.2936T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020935.2:p.(L979S);ESP6500_MAF=0.0,3.1094,1.0534;ESP6500_PH=benign:0.0;ESP6500_TAC=12869,137	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1239,117,0
chr2	218456969	rs397987861;rs5838699	CA	C	74.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.142;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-0.888;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs5838699;dbSNPBuildID=137,138;ANN=C|intron_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding|24/25|c.2713+122delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3559;p3_1000G_AF=0.710663;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=24916;p3_1000G_EAS_AF=0.9018;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219321692;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,6:11:99:112,0,110
chr2	218463175	rs574651819;rs750116623	AACACACACACACACACACAC	A	273.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.22;SOR=1.863;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142,144;ANN=A|intron_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding|22/25|c.2527+111_2527+130delGTGTGTGTGTGTGTGTGTGT||||||	GT:AD:DP:GQ:PL	1/0:0,5:5:99:311,126,111
chr2	218463175	.	AACACACACACACACACACAC	AACACACACACAC	273.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.22;SOR=1.863;DEL;HET;VARTYPE=DEL;ANN=AACACACACACAC|intron_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding|22/25|c.2527+111_2527+118delGTGTGTGT||||||	GT:AD:DP:GQ:PL	0/1:0,3:3:99:311,185,176
chr2	218466124	rs117996990	G	A	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.83;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=-0.652;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117996990;dbSNPBuildID=132;ANN=A|synonymous_variant|LOW|USP37|USP37|transcript|NM_020935.2|protein_coding|21/26|c.2352C>T|p.Asn784Asn|2765/8032|2352/2940|784/979||;p3_1000G_AA=G|||;p3_1000G_AC=56;p3_1000G_AF=0.0111821;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18246;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219330847;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=5,4401;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,5,2198;ESP6500_CDS_SIZES=NM_020935.2:2940;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=161;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020935.2:coding-synonymous;ESP6500_GL=USP37;ESP6500_GRCh38_POSITION=2:218466124;ESP6500_GTC=0,5,6498;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020935.2:c.2352C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020935.2:p.(N784);ESP6500_MAF=0.0,0.1135,0.0384;ESP6500_TAC=5,13001	GT:AD:DP:GQ:PL	0/1:7,12:19:99:363,0,192
chr2	218474560	rs549026	T	C	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.67;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=0.448;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs549026;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding|20/25|c.2299+70A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3690;p3_1000G_AF=0.736821;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=19638;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.6203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219339283;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:250,0,185
chr2	218485635	rs774349583	CAAAAAAA	C	127.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.55;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding|16/25|c.1670+22_1670+28delTTTTTTT||||||	GT:AD:DP:GQ:PL	0/1:1,4:5:45:165,0,45
chr2	218488472	rs10932782	C	T	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.108;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10932782;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding|14/25|c.1473-51G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3692;p3_1000G_AF=0.73722;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=15994;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219353195;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3222,1184;ESP6500_AA_AGE=390.3+/-327.6;ESP6500_AA_GTC=1171,880,152;ESP6500_CDS_SIZES=NM_020935.2:2940;ESP6500_CG=-2.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=5305,3295;ESP6500_EA_AGE=486.1+/-371.8;ESP6500_EA_GTC=1662,1981,657;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020935.2:intron;ESP6500_GL=USP37;ESP6500_GRCh38_POSITION=2:218488472;ESP6500_GTC=2833,2861,809;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020935.2:c.1473-51G>A;ESP6500_MAF=38.314,26.8724,34.438;ESP6500_TAC=8527,4479	GT:AD:DP:GQ:PL	0/1:3,4:7:94:94,0,109
chr2	218510295	rs514356	C	T	44.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs514356;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding|10/25|c.864-155G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3690;p3_1000G_AF=0.736821;p3_1000G_AFR_AF=0.7428;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=18834;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.6203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219375018;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:72,6,0
chr2	218568874	rs526897	G	A	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.873;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.2;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs526897;dbSNPBuildID=83;ANN=A|5_prime_UTR_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271634.1|protein_coding|1/9|c.-81G>A|||||81|,A|5_prime_UTR_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271635.1|protein_coding|1/8|c.-81G>A|||||81|,A|5_prime_UTR_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_005444.2|protein_coding|1/8|c.-81G>A|||||81|,A|upstream_gene_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding||c.-10221C>T|||||513|,A|non_coding_transcript_exon_variant|MODIFIER|CNOT9|CNOT9|transcript|NR_073390.1|pseudogene|1/7|n.295G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3690;p3_1000G_AF=0.736821;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=12347;p3_1000G_EAS_AF=0.9048;p3_1000G_EUR_AF=0.6203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219433597;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=972,360;ESP6500_AA_GTC=369,234,63;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=10;ESP6500_EA_AC=1873,1225;ESP6500_EA_GTC=615,643,291;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=2:218568874;ESP6500_GTC=984,877,354;ESP6500_GTS=AA,AG,GG;ESP6500_MAF=39.5416,27.027,35.7788;ESP6500_TAC=2845,1585	GT:AD:DP:GQ:PL	0/1:9,11:20:99:288,0,331
chr2	218569165	rs689116	C	A	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=0;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs689116;dbSNPBuildID=83;ANN=A|upstream_gene_variant|MODIFIER|USP37|USP37|transcript|NM_020935.2|protein_coding||c.-10512G>T|||||804|,A|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271634.1|protein_coding|1/8|c.24+187C>A||||||,A|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271635.1|protein_coding|1/7|c.24+187C>A||||||,A|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_005444.2|protein_coding|1/7|c.24+187C>A||||||,A|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NR_073390.1|pseudogene|1/6|n.399+187C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2546;p3_1000G_AF=0.508387;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=14203;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.5924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219433888;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:60:60,0,126
chr2	218574094	rs832812	T	C	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.55;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs832812;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271634.1|protein_coding|1/8|c.24+5116T>C||||||,C|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271635.1|protein_coding|1/7|c.24+5116T>C||||||,C|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_005444.2|protein_coding|1/7|c.24+5116T>C||||||,C|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NR_073390.1|pseudogene|1/6|n.399+5116T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4982;p3_1000G_AF=0.994808;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16399;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219438817;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:218574094_T_C:180,12,0
chr2	218574116	rs832811	A	C	152.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs832811;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271634.1|protein_coding|1/8|c.24+5138A>C||||||,C|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271635.1|protein_coding|1/7|c.24+5138A>C||||||,C|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_005444.2|protein_coding|1/7|c.24+5138A>C||||||,C|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NR_073390.1|pseudogene|1/6|n.399+5138A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4927;p3_1000G_AF=0.983826;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=15506;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219438839;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,4:4:12:1|1:218574094_T_C:180,12,0
chr2	218581137	rs34214861;rs796762566	GAA	G	198.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.362;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=0.88;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34214861;dbSNPBuildID=126,146;ANN=G|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271634.1|protein_coding|2/8|c.204+399_204+400delAA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_001271635.1|protein_coding|2/7|c.204+399_204+400delAA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NM_005444.2|protein_coding|2/7|c.204+399_204+400delAA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|CNOT9|CNOT9|transcript|NR_073390.1|pseudogene|2/6|n.579+399_579+400delAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:5,6:11:99:236,0,192
chr2	218616081	rs485765	G	C	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.044;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-0.654;SOR=0.752;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs485765;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|PLCD4|PLCD4|transcript|NM_032726.3|protein_coding|3/15|c.181+19G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2974;p3_1000G_AF=0.59385;p3_1000G_AFR_AF=0.3805;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=18501;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219480804;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1789,2209;ESP6500_AA_GTC=394,1001,604;ESP6500_CDS_SIZES=NM_032726.3:2289;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=26;ESP6500_EA_AC=4866,3488;ESP6500_EA_GTC=1439,1988,750;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032726.3:intron;ESP6500_GL=PLCD4;ESP6500_GRCh38_POSITION=2:218616081;ESP6500_GTC=1833,2989,1354;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_032726.3:c.181+19G>C;ESP6500_MAF=41.7525,44.7474,46.1221;ESP6500_TAC=6655,5697	GT:AD:DP:GQ:PL	0/1:24,16:40:99:378,0,624
chr2	218622567	rs79303323	T	A	45.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs79303323;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|PLCD4|PLCD4|transcript|NM_032726.3|protein_coding|5/15|c.541-80T>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=146;p3_1000G_AF=0.0291534;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=14099;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219487290;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:73,6,0
chr2	218628201	rs612874	T	C	1284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.455;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=1.977;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.187;SOR=0.487;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs612874;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|PLCD4|PLCD4|transcript|NM_032726.3|protein_coding|7/16|c.945T>C|p.Cys315Cys|1284/3237|945/2289|315/762||;p3_1000G_AA=T|||;p3_1000G_AC=2549;p3_1000G_AF=0.508986;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=20994;p3_1000G_EAS_AF=0.7827;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219492924;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=635,3433;ESP6500_AA_GTC=57,521,1456;ESP6500_CDS_SIZES=NM_032726.3:2289;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=148;ESP6500_EA_AC=4788,3576;ESP6500_EA_GTC=1396,1996,790;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032726.3:coding-synonymous;ESP6500_GL=PLCD4;ESP6500_GRCh38_POSITION=2:218628201;ESP6500_GTC=1453,2517,2246;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032726.3:c.945T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032726.3:p.(C315);ESP6500_MAF=42.7547,15.6096,43.6213;ESP6500_TAC=5423,7009	GT:AD:DP:GQ:PL	0/1:34,50:84:99:1313,0,850
chr2	218634036	rs7574429	T	G	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.13;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=-1.196;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7574429;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding||c.*4303A>C|||||3880|,G|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene||n.*3880A>C|||||3880|,G|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene||n.*3880A>C|||||3880|,G|intron_variant|MODIFIER|PLCD4|PLCD4|transcript|NM_032726.3|protein_coding|11/15|c.1607-69T>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3833;p3_1000G_AF=0.765375;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.6628;p3_1000G_AN=5008;p3_1000G_DP=20703;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.6223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219498759;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:42,11:53:99:254,0,1074
chr2	218636410	rs2278530	G	A	910.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.603;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.943;SOR=0.723;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278530;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding||c.*1929C>T|||||1506|,A|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene||n.*1506C>T|||||1506|,A|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene||n.*1506C>T|||||1506|,A|intron_variant|MODIFIER|PLCD4|PLCD4|transcript|NM_032726.3|protein_coding|15/15|c.2182+18G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3045;p3_1000G_AF=0.608027;p3_1000G_AFR_AF=0.4047;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=19198;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.5954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219501133;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6748;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2061,2057;ESP6500_AA_GTC=520,1021,518;ESP6500_CDS_SIZES=NM_032726.3:2289;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=160;ESP6500_EA_AC=4885,3483;ESP6500_EA_GTC=1446,1993,745;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032726.3:intron;ESP6500_GL=PLCD4;ESP6500_GRCh38_POSITION=2:218636410;ESP6500_GTC=1966,3014,1263;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032726.3:c.2182+18G>A;ESP6500_MAF=41.6228,49.9514,44.3697;ESP6500_TAC=6946,5540	GT:AD:DP:GQ:PL	0/1:60,43:103:99:939,0,1657
chr2	218636591	rs150976760	C	T	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.283;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.162;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150976760;dbSNPBuildID=134;ANN=T|3_prime_UTR_variant|MODIFIER|PLCD4|PLCD4|transcript|NM_032726.3|protein_coding|16/16|c.*14C>T|||||14|,T|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding||c.*1748G>A|||||1325|,T|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene||n.*1325G>A|||||1325|,T|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene||n.*1325G>A|||||1325|;p3_1000G_AA=C|||;p3_1000G_AC=24;p3_1000G_AF=0.00479233;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=19633;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219501314;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,3883;ESP6500_AA_GTC=0,1,1941;ESP6500_CDS_SIZES=NM_032726.3:2289;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=37;ESP6500_EA_AC=35,8233;ESP6500_EA_GTC=0,35,4099;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032726.3:utr-3;ESP6500_GL=PLCD4;ESP6500_GRCh38_POSITION=2:218636591;ESP6500_GTC=0,36,6040;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032726.3:c.*14C>T;ESP6500_MAF=0.4233,0.0257,0.2962;ESP6500_TAC=36,12116	GT:AD:DP:GQ:PL	0/1:10,10:20:99:300,0,259
chr2	218636605	rs1055816	G	A	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.811;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.58;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1055816;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|PLCD4|PLCD4|transcript|NM_032726.3|protein_coding|16/16|c.*28G>A|||||28|,A|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding||c.*1734C>T|||||1311|,A|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene||n.*1311C>T|||||1311|,A|downstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene||n.*1311C>T|||||1311|;p3_1000G_AA=G|||;p3_1000G_AC=2588;p3_1000G_AF=0.516773;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=19553;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.5934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219501328;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=605,3297;ESP6500_AA_GTC=53,499,1399;ESP6500_CDS_SIZES=NM_032726.3:2289;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=32;ESP6500_EA_AC=4734,3532;ESP6500_EA_GTC=1372,1990,771;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032726.3:utr-3;ESP6500_GL=PLCD4;ESP6500_GRCh38_POSITION=2:218636605;ESP6500_GTC=1425,2489,2170;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032726.3:c.*28G>A;ESP6500_MAF=42.7293,15.5049,43.8774;ESP6500_TAC=5339,6829	GT:AD:DP:GQ:PL	0/1:9,10:19:99:267,0,321
chr2	218643649	rs3770213	A	T	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.506;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.49;SOR=0.758;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770213;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding|8/10|c.2867T>A|p.Leu956His|3305/5925|2867/5064|956/1687||,T|non_coding_transcript_exon_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene|9/11|n.3447T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene|9/11|n.3614T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=959;p3_1000G_AF=0.191494;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=18398;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.3757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219508372;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=298,3464;ESP6500_AA_GTC=9,280,1592;ESP6500_CDS_SIZES=NM_001105537.1:5064;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=202;ESP6500_EA_AC=3128,5106;ESP6500_EA_GTC=625,1878,1614;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001105537.1:missense;ESP6500_GL=ZNF142;ESP6500_GRCh38_POSITION=2:218643649;ESP6500_GS=99;ESP6500_GTC=634,2158,3206;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_001105537.1:c.2867T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001105537.1:p.(L956H);ESP6500_MAF=37.9888,7.9213,28.5595;ESP6500_PH=probably-damaging:0.979;ESP6500_TAC=3426,8570	GT:AD:DP:GQ:PL	0/1:16,18:34:99:453,0,435
chr2	218644265	rs3770214	T	C	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.11;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.237;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.51;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3770214;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding|8/10|c.2251A>G|p.Ser751Gly|2689/5925|2251/5064|751/1687||,C|non_coding_transcript_exon_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene|9/11|n.2831A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene|9/11|n.2998A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3830;p3_1000G_AF=0.764776;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=19851;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219508988;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3033,767;ESP6500_AA_GTC=1204,625,71;ESP6500_CDS_SIZES=NM_001105537.1:5064;ESP6500_CG=1.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=82;ESP6500_EA_AC=5115,3135;ESP6500_EA_GTC=1614,1887,624;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001105537.1:missense;ESP6500_GL=ZNF142;ESP6500_GRCh38_POSITION=2:218644265;ESP6500_GS=56;ESP6500_GTC=2818,2512,695;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001105537.1:c.2251A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001105537.1:p.(S751G);ESP6500_MAF=38.0,20.1842,32.3817;ESP6500_PH=benign:0.0;ESP6500_TAC=8148,3902	GT:AD:DP:GQ:PL	0/1:22,16:38:99:449,0,636
chr2	218644895	rs2230115	C	A	1102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-5.908;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=2.97;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.269;SOR=0.751;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2230115;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding|8/10|c.1621G>T|p.Ala541Ser|2059/5925|1621/5064|541/1687||,A|non_coding_transcript_exon_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene|9/11|n.2201G>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene|9/11|n.2368G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2586;p3_1000G_AF=0.516374;p3_1000G_AFR_AF=0.0711;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=16874;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.5934;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219509618;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=729,3641;ESP6500_AA_GTC=72,585,1528;ESP6500_CDS_SIZES=NM_001105537.1:5064;ESP6500_CG=5.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=78;ESP6500_EA_AC=4956,3626;ESP6500_EA_GTC=1457,2042,792;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001105537.1:missense;ESP6500_GL=ZNF142;ESP6500_GRCh38_POSITION=2:218644895;ESP6500_GS=99;ESP6500_GTC=1529,2627,2320;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001105537.1:c.1621G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001105537.1:p.(A541S);ESP6500_MAF=42.2512,16.6819,43.8928;ESP6500_PH=possibly-damaging:0.732;ESP6500_TAC=5685,7267	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1131,0,1127
chr2	218652365	rs4674323	T	C	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.95;ReadPosRankSum=1.27;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4674323;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding|4/9|c.281-1839A>G||||||,C|intron_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene|4/10|n.739-543A>G||||||,C|intron_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene|4/10|n.906-543A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2590;p3_1000G_AF=0.517173;p3_1000G_AFR_AF=0.0719;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=20069;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.5934;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219517088;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,4:24:99:99,0,538
chr2	218662282	rs2303561	C	T	457.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.917;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.368;SOR=0.589;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303561;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NM_001105537.2|protein_coding||c.-5853G>A|||||2742|,T|upstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073600.1|pseudogene||n.-2742G>A|||||2742|,T|upstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene||n.-2650G>A|||||2650|,T|downstream_gene_variant|MODIFIER|RNF25|RNF25|transcript|NM_022453.2|protein_coding||c.*1675G>A|||||1582|,T|intron_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001079866.1|protein_coding|5/7|c.719+22C>T||||||,T|intron_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257342.1|protein_coding|6/8|c.719+22C>T||||||,T|intron_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257343.1|protein_coding|6/8|c.719+22C>T||||||,T|intron_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257344.1|protein_coding|5/7|c.719+22C>T||||||,T|intron_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001318836.1|protein_coding|4/6|c.359+22C>T||||||,T|intron_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001320717.1|protein_coding|6/8|c.719+22C>T||||||,T|intron_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_004328.4|protein_coding|6/8|c.719+22C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2418;p3_1000G_AF=0.482827;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=20928;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.4066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219527005;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3687,719;ESP6500_AA_AGE=299.3+/-285.7;ESP6500_AA_GTC=1543,601,59;ESP6500_CDS_SIZES=NM_004328.4:1260,NM_001257344.1:1260,NM_001257343.1:1260,NM_001257342.1:1260,NM_001079866.1:1260;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=121;ESP6500_EA_AC=3626,4974;ESP6500_EA_AGE=624.8+/-397.6;ESP6500_EA_GTC=782,2062,1456;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004328.4:intron,NM_001257344.1:intron,NM_001257343.1:intron,NM_001257342.1:intron,NM_001079866.1:intron;ESP6500_GL=BCS1L;ESP6500_GRCh38_POSITION=2:218662282;ESP6500_GTC=2325,2663,1515;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004328.4:c.719+22C>T,NM_001257344.1:c.719+22C>T,NM_001257343.1:c.719+22C>T,NM_001257342.1:c.719+22C>T,NM_001079866.1:c.719+22C>T;ESP6500_MAF=42.1628,16.3187,43.7721;ESP6500_TAC=7313,5693	GT:AD:DP:GQ:PL	0/1:21,19:40:99:486,0,633
chr2	218664625	rs2243911	C	T	539.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.578;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=5.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=0.564;SOR=0.588;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2243911;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|ZNF142|ZNF142|transcript|NR_073599.1|pseudogene||n.-4993G>A|||||4993|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001079866.1|protein_coding||c.*1239C>T|||||1182|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257342.1|protein_coding||c.*1239C>T|||||1182|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257343.1|protein_coding||c.*1239C>T|||||1182|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257344.1|protein_coding||c.*1239C>T|||||1182|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001318836.1|protein_coding||c.*1239C>T|||||1182|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001320717.1|protein_coding||c.*1239C>T|||||1182|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_004328.4|protein_coding||c.*1239C>T|||||1182|,T|intron_variant|MODIFIER|RNF25|RNF25|transcript|NM_022453.2|protein_coding|9/9|c.802-90G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2418;p3_1000G_AF=0.482827;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=19456;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219529348;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,20:34:99:568,0,421
chr2	218668180	rs2556384	C	T	1485.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.322;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.22;ReadPosRankSum=-1.021;SOR=0.708;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2556384;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|STK36|STK36|transcript|NM_015690.4|protein_coding||c.-4650C>T|||||3846|,T|upstream_gene_variant|MODIFIER|STK36|STK36|transcript|NM_001243313.1|protein_coding||c.-4650C>T|||||3846|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001079866.1|protein_coding||c.*4794C>T|||||4737|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257342.1|protein_coding||c.*4794C>T|||||4737|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257343.1|protein_coding||c.*4794C>T|||||4737|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257344.1|protein_coding||c.*4794C>T|||||4737|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001318836.1|protein_coding||c.*4794C>T|||||4737|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001320717.1|protein_coding||c.*4794C>T|||||4737|,T|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_004328.4|protein_coding||c.*4794C>T|||||4737|,T|intron_variant|MODIFIER|RNF25|RNF25|transcript|NM_022453.2|protein_coding|3/9|c.220-34G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2418;p3_1000G_AF=0.482827;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=15196;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219532903;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3687,719;ESP6500_AA_AGE=299.3+/-285.7;ESP6500_AA_GTC=1543,601,59;ESP6500_CDS_SIZES=NM_022453.2:1380;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=115;ESP6500_EA_AC=3628,4972;ESP6500_EA_AGE=624.4+/-397.6;ESP6500_EA_GTC=782,2064,1454;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022453.2:intron;ESP6500_GL=RNF25;ESP6500_GRCh38_POSITION=2:218668180;ESP6500_GTC=2325,2665,1513;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022453.2:c.220-34G>A;ESP6500_MAF=42.186,16.3187,43.7567;ESP6500_TAC=7315,5691	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,38:64:99:0|1:218668180_C_T:1514,0,1503
chr2	218668182	rs2556385	G	A	1485.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.121;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.86;ReadPosRankSum=-0.335;SOR=0.792;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2556385;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|STK36|STK36|transcript|NM_015690.4|protein_coding||c.-4648G>A|||||3844|,A|upstream_gene_variant|MODIFIER|STK36|STK36|transcript|NM_001243313.1|protein_coding||c.-4648G>A|||||3844|,A|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001079866.1|protein_coding||c.*4796G>A|||||4739|,A|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257342.1|protein_coding||c.*4796G>A|||||4739|,A|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257343.1|protein_coding||c.*4796G>A|||||4739|,A|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001257344.1|protein_coding||c.*4796G>A|||||4739|,A|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001318836.1|protein_coding||c.*4796G>A|||||4739|,A|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_001320717.1|protein_coding||c.*4796G>A|||||4739|,A|downstream_gene_variant|MODIFIER|BCS1L|BCS1L|transcript|NM_004328.4|protein_coding||c.*4796G>A|||||4739|,A|intron_variant|MODIFIER|RNF25|RNF25|transcript|NM_022453.2|protein_coding|3/9|c.220-36C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2418;p3_1000G_AF=0.482827;p3_1000G_AFR_AF=0.9281;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=14955;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219532905;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3687,719;ESP6500_AA_AGE=299.3+/-285.7;ESP6500_AA_GTC=1543,601,59;ESP6500_CDS_SIZES=NM_022453.2:1380;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=3628,4972;ESP6500_EA_AGE=624.3+/-397.6;ESP6500_EA_GTC=782,2064,1454;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022453.2:intron;ESP6500_GL=RNF25;ESP6500_GRCh38_POSITION=2:218668182;ESP6500_GTC=2325,2665,1513;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022453.2:c.220-36C>T;ESP6500_MAF=42.186,16.3187,43.7567;ESP6500_TAC=7315,5691	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,38:65:99:0|1:218668180_C_T:1514,0,1503
chr2	218676333	rs2556388	T	C	498.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.586;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=-1.811;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2556388;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|RNF25|RNF25|transcript|NM_022453.2|protein_coding||c.-4363A>G|||||4275|,C|intron_variant|MODIFIER|STK36|STK36|transcript|NM_015690.4|protein_coding|6/26|c.684+55T>C||||||,C|intron_variant|MODIFIER|STK36|STK36|transcript|NM_001243313.1|protein_coding|6/26|c.684+55T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2412;p3_1000G_AF=0.481629;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=20122;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219541056;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,18:27:99:527,0,245
chr2	218680586	rs2303565	T	C	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.493;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.545;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.063;SOR=1.106;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303565;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|STK36|STK36|transcript|NM_015690.4|protein_coding|9/26|c.1137-17T>C||||||,C|intron_variant|MODIFIER|STK36|STK36|transcript|NM_001243313.1|protein_coding|9/26|c.1137-17T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2412;p3_1000G_AF=0.481629;p3_1000G_AFR_AF=0.9266;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=17405;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219545309;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3685,719;ESP6500_AA_GTC=1553,579,70;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22959728;ESP6500_CDS_SIZES=NM_015690.4:3948,NM_001243313.1:3885;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=3729,4867;ESP6500_EA_GTC=850,2029,1419;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015690.4:intron,NM_001243313.1:intron;ESP6500_GL=STK36;ESP6500_GRCh38_POSITION=2:218680586;ESP6500_GTC=2403,2608,1489;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22959728;ESP6500_HGVS_CDNA_VAR=NM_015690.4:c.1137-17T>C,NM_001243313.1:c.1137-17T>C;ESP6500_MAF=43.3806,16.3261,42.9692;ESP6500_TAC=7414,5586	GT:AD:DP:GQ:PL	0/1:15,11:26:99:241,0,340
chr2	218688883	.	A	G	12.99	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.669;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.328;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=-0.516;SOR=0.113;SNP;HET;VARTYPE=SNP;ANN=G|splice_region_variant&intron_variant|LOW|STK36|STK36|transcript|NM_015690.4|protein_coding|12/26|c.1560+7A>G||||||,G|splice_region_variant&intron_variant|LOW|STK36|STK36|transcript|NM_001243313.1|protein_coding|12/26|c.1560+7A>G||||||	GT:AD:DP:GQ:PL	0/1:14,3:17:41:41,0,439
chr2	218690539	rs1344642;403497	G	A	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.332;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.118;SOR=0.239;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1344642;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|STK36|STK36|transcript|NM_015690.4|protein_coding|14/27|c.1748G>A|p.Arg583Gln|2027/4935|1748/3948|583/1315||,A|missense_variant|MODERATE|STK36|STK36|transcript|NM_001243313.1|protein_coding|14/27|c.1748G>A|p.Arg583Gln|2027/4872|1748/3885|583/1294||;p3_1000G_AA=G|||;p3_1000G_AC=2112;p3_1000G_AF=0.421725;p3_1000G_AFR_AF=0.7095;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=18563;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.4235;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219555262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2804,1602;ESP6500_AA_AGE=665.1+/-401.5;ESP6500_AA_GTC=886,1032,285;ESP6500_CDS_SIZES=NM_015690.4:3948,NM_001243313.1:3885;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=68;ESP6500_EA_AC=3775,4825;ESP6500_EA_AGE=536.2+/-383.0;ESP6500_EA_GTC=840,2095,1365;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015690.4:missense,NM_001243313.1:missense;ESP6500_GL=STK36;ESP6500_GRCh38_POSITION=2:218690539;ESP6500_GS=43,43;ESP6500_GTC=1726,3127,1650;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015690.4:c.1748G>A,NM_001243313.1:c.1748G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015690.4:p.(R583Q),NM_001243313.1:p.(R583Q);ESP6500_MAF=43.8953,36.3595,49.4157;ESP6500_PH=benign:0.145,benign:0.145;ESP6500_TAC=6579,6427;CLINVAR_ALLELEID=389504;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.218690539G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=STK36:27148;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1344642	GT:AD:DP:GQ:PL	0/1:14,13:27:99:359,0,346
chr2	218697952	rs1863704;403498	G	A	827.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.337;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.032;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1863704;dbSNPBuildID=92;ANN=A|missense_variant|MODERATE|STK36|STK36|transcript|NM_015690.4|protein_coding|25/27|c.3008G>A|p.Gly1003Asp|3287/4935|3008/3948|1003/1315||,A|missense_variant|MODERATE|STK36|STK36|transcript|NM_001243313.1|protein_coding|25/27|c.2945G>A|p.Gly982Asp|3224/4872|2945/3885|982/1294||;p3_1000G_AA=G|||;p3_1000G_AC=950;p3_1000G_AF=0.189696;p3_1000G_AFR_AF=0.0212;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=21184;p3_1000G_EAS_AF=0.0556;p3_1000G_EUR_AF=0.3757;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219562675;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=336,4070;ESP6500_AA_AGE=178.7+/-207.4;ESP6500_AA_GTC=11,314,1878;ESP6500_CDS_SIZES=NM_015690.4:3948,NM_001243313.1:3885;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=137;ESP6500_EA_AC=3284,5316;ESP6500_EA_AGE=492.8+/-373.4;ESP6500_EA_GTC=656,1972,1672;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015690.4:missense,NM_001243313.1:missense;ESP6500_GL=STK36;ESP6500_GRCh38_POSITION=2:218697952;ESP6500_GS=94,94;ESP6500_GTC=667,2286,3550;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015690.4:c.3008G>A,NM_001243313.1:c.2945G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015690.4:p.(G1003D),NM_001243313.1:p.(G982D);ESP6500_MAF=38.186,7.626,27.8333;ESP6500_PH=possibly-damaging:0.673,possibly-damaging:0.673;ESP6500_TAC=3620,9386;CLINVAR_ALLELEID=389507;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.218697952G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=STK36:27148;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1863704	GT:AD:DP:GQ:PL	0/1:45,33:78:99:856,0,1251
chr2	218737776	rs3731877	G	C	629.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.055;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=8.248;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=0.741;SOR=0.113;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731877;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|3/20|c.100G>C|p.Glu34Gln|470/4996|100/3600|34/1199||;p3_1000G_AA=G|||;p3_1000G_AC=2020;p3_1000G_AF=0.403355;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=19525;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219602499;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2578,1828;ESP6500_AA_AGE=637.9+/-396.8;ESP6500_AA_GTC=756,1066,381;ESP6500_CDS_SIZES=NM_014640.4:3600;ESP6500_CG=5.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=66;ESP6500_EA_AC=4082,4518;ESP6500_EA_AGE=561.4+/-387.8;ESP6500_EA_GTC=987,2108,1205;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014640.4:missense;ESP6500_GL=TTLL4;ESP6500_GRCh38_POSITION=2:218737776;ESP6500_GS=29;ESP6500_GTC=1743,3174,1586;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014640.4:c.100G>C;ESP6500_HGVS_PROTEIN_VAR=NM_014640.4:p.(E34Q);ESP6500_MAF=47.4651,41.4889,48.7929;ESP6500_PH=possibly-damaging:0.59;ESP6500_TAC=6660,6346	GT:AD:DP:GQ:PL	0/1:14,23:37:99:658,0,461
chr2	218738096	rs3731876	G	A	929.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.828;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=1.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.761;SOR=0.968;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731876;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|3/20|c.420G>A|p.Pro140Pro|790/4996|420/3600|140/1199||;p3_1000G_AA=A|||;p3_1000G_AC=2371;p3_1000G_AF=0.473442;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=20218;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219602819;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3577,829;ESP6500_AA_AGE=329.9+/-301.2;ESP6500_AA_GTC=1455,667,81;ESP6500_CDS_SIZES=NM_014640.4:3600;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=97;ESP6500_EA_AC=4094,4506;ESP6500_EA_AGE=592.0+/-392.9;ESP6500_EA_GTC=994,2106,1200;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014640.4:coding-synonymous;ESP6500_GL=TTLL4;ESP6500_GRCh38_POSITION=2:218738096;ESP6500_GTC=2449,2773,1281;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014640.4:c.420G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014640.4:p.(P140);ESP6500_MAF=47.6047,18.8153,41.0195;ESP6500_TAC=7671,5335	GT:AD:DP:GQ:PL	0/1:42,39:81:99:958,0,1159
chr2	218740395	rs7562426	G	A	16.86	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.924;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=-1.061;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7562426;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|4/19|c.1598-126G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2030;p3_1000G_AF=0.405351;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=19106;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219605118;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:45:45,0,211
chr2	218745053	rs2272191	G	A	445.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.434;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.422;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=1.18;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272191;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|5/19|c.1662-56G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2031;p3_1000G_AF=0.405551;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=21075;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219609776;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,19:40:99:474,0,536
chr2	218745272	rs2272190	G	C	469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.863;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.665;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272190;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|6/19|c.1786+39G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2057;p3_1000G_AF=0.410743;p3_1000G_AFR_AF=0.6286;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=18165;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219609995;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2676,1730;ESP6500_AA_GTC=830,1016,357;ESP6500_CDS_SIZES=NM_014640.4:3600;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=4053,4547;ESP6500_EA_GTC=989,2075,1236;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014640.4:intron;ESP6500_GL=TTLL4;ESP6500_GRCh38_POSITION=2:218745272;ESP6500_GTC=1819,3091,1593;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014640.4:c.1786+39G>C;ESP6500_MAF=47.1279,39.2646,48.2623;ESP6500_TAC=6729,6277	GT:AD:DP:GQ:PL	0/1:15,17:32:99:498,0,468
chr2	218745599	rs2272189	G	A	150.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.703;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.85;ReadPosRankSum=-0.732;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272189;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|6/19|c.1787-92G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2241;p3_1000G_AF=0.447484;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=20419;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219610322;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:68:179,0,68
chr2	218745710	rs586194	A	G	398.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.41;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.352;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.373;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs586194;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|7/20|c.1806A>G|p.Glu602Glu|2176/4996|1806/3600|602/1199||;p3_1000G_AA=G|||;p3_1000G_AC=2450;p3_1000G_AF=0.489217;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=20186;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219610433;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3726,680;ESP6500_AA_AGE=287.2+/-279.2;ESP6500_AA_GTC=1577,572,54;ESP6500_CDS_SIZES=NM_014640.4:3600;ESP6500_CG=-0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=49;ESP6500_EA_AC=4092,4508;ESP6500_EA_AGE=588.7+/-392.4;ESP6500_EA_GTC=992,2108,1200;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014640.4:coding-synonymous;ESP6500_GL=TTLL4;ESP6500_GRCh38_POSITION=2:218745710;ESP6500_GTC=2569,2680,1254;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014640.4:c.1806A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014640.4:p.(E602);ESP6500_MAF=47.5814,15.4335,39.8893;ESP6500_TAC=7818,5188	GT:AD:DP:GQ:PL	0/1:14,15:29:99:427,0,302
chr2	218747559	rs2272188	A	G	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.876;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=3.965;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=0.064;SOR=0.199;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272188;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|10/19|c.2250-38A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2057;p3_1000G_AF=0.410743;p3_1000G_AFR_AF=0.6286;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=18148;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4662;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219612282;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2699,1707;ESP6500_AA_AGE=513.6+/-368.4;ESP6500_AA_GTC=831,1037,335;ESP6500_CDS_SIZES=NM_014640.4:3600;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=4084,4516;ESP6500_EA_AGE=592.4+/-393.0;ESP6500_EA_GTC=988,2108,1204;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014640.4:intron;ESP6500_GL=TTLL4;ESP6500_GRCh38_POSITION=2:218747559;ESP6500_GTC=1819,3145,1539;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014640.4:c.2250-38A>G;ESP6500_MAF=47.4884,38.7426,47.8471;ESP6500_TAC=6783,6223	GT:AD:DP:GQ:PL	0/1:9,16:25:99:430,0,202
chr2	218753514	rs6436073	A	C	397.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.11;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.859;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6436073;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|18/19|c.3259-70A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2242;p3_1000G_AF=0.447684;p3_1000G_AFR_AF=0.7648;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=18307;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219618237;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,15:35:99:426,0,491
chr2	218753774	rs6757772	T	G	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=1.56;SOR=1.262;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6757772;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TTLL4|TTLL4|transcript|NM_014640.4|protein_coding|19/19|c.3344+105T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2021;p3_1000G_AF=0.403554;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=17017;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.4672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219618497;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,7:21:99:189,0,400
chr2	218826843	rs1467320	A	G	477.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1467320;dbSNPBuildID=88;ANN=G|downstream_gene_variant|MODIFIER|MIR9500|MIR9500|transcript|NR_128707.1|pseudogene||n.*3689A>G|||||3689|,G|intron_variant|MODIFIER|PRKAG3|PRKAG3|transcript|NM_017431.2|protein_coding|10/13|c.1168+85T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4136;p3_1000G_AF=0.825879;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=17479;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.8658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219691566;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:506,39,0
chr2	218827804	rs11385903;~rs11385903	G	GC	2380.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.07;SOR=1.778;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11385903;dbSNPBuildID=132;ANN=GC|downstream_gene_variant|MODIFIER|MIR9500|MIR9500|transcript|NR_128707.1|pseudogene||n.*4650_*4651insC|||||4651|,GC|intron_variant|MODIFIER|PRKAG3|PRKAG3|transcript|NM_017431.2|protein_coding|7/13|c.820+28dupG||||||;p3_1000G_AA=CCCC|CCC|CCCC|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19069;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219692527;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4265,1;ESP6500_AA_GTC=2132,1,0;ESP6500_CDS_SIZES=NM_017431.2:1470;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=98;ESP6500_EA_AC=8254,0;ESP6500_EA_GTC=4127,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017431.2:intron;ESP6500_GL=PRKAG3;ESP6500_GRCh38_POSITION=2:218827804;ESP6500_GTC=6259,1,0;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_017431.2:c.820+28_820+29insG;ESP6500_MAF=0.0,0.0234,0.0080;ESP6500_TAC=12519,1	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2418,217,0
chr2	218828067	rs397695556;rs5838710	A	AG	836.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=3.611;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5838710;dbSNPBuildID=126,138;ANN=AG|splice_region_variant&intron_variant|LOW|PRKAG3|PRKAG3|transcript|NM_017431.2|protein_coding|5/13|c.716-6dupC||||||,AG|downstream_gene_variant|MODIFIER|MIR9500|MIR9500|transcript|NR_128707.1|pseudogene||n.*4913_*4914insG|||||4914|;p3_1000G_AA=GGGG|GGG|GGGG|deletion;p3_1000G_AC=5000;p3_1000G_AF=0.998403;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17226;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219692790;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL;ESP6500_AA_AC=4193,11;ESP6500_AA_GTC=2092,9,1;ESP6500_CDS_SIZES=NM_017431.2:1470;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=18;ESP6500_EA_AC=8136,30;ESP6500_EA_GTC=4056,24,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017431.2:intron;ESP6500_GL=PRKAG3;ESP6500_GRCh38_POSITION=2:218828067;ESP6500_GTC=6148,33,4;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_017431.2:c.716-6_716-5insC;ESP6500_MAF=0.3674,0.2617,0.3314;ESP6500_TAC=12329,41	GT:AD:DP:GQ:PL	1/1:0,26:26:78:874,78,0
chr2	218831291	rs650898	G	A	741.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs650898;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|PRKAG3|PRKAG3|transcript|NM_017431.2|protein_coding|2/13|c.73+45C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4783;p3_1000G_AF=0.955072;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=18453;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9105;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219696014;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4329,77;ESP6500_AA_GTC=2126,77,0;ESP6500_CDS_SIZES=NM_017431.2:1470;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=22;ESP6500_EA_AC=7863,735;ESP6500_EA_GTC=3596,671,32;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017431.2:intron;ESP6500_GL=PRKAG3;ESP6500_GRCh38_POSITION=2:218831291;ESP6500_GTC=5722,748,32;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017431.2:c.73+45C>T;ESP6500_MAF=8.5485,1.7476,6.2442;ESP6500_TAC=12192,812	GT:AD:DP:GQ:PL	1/1:0,26:26:77:770,77,0
chr2	219029608	rs117885048	C	T	1323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.092;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=2.539;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.755;SOR=0.487;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117885048;dbSNPBuildID=132;ANN=T|missense_variant|MODERATE|CFAP65|CFAP65|transcript|NM_194302.3|protein_coding|11/35|c.1445G>A|p.Arg482His|1557/5981|1445/5778|482/1925||,T|missense_variant|MODERATE|CFAP65|CFAP65|transcript|NM_001278295.1|protein_coding|11/13|c.1412G>A|p.Arg471His|1451/3319|1412/2355|471/784||,T|missense_variant|MODERATE|CFAP65|CFAP65|transcript|NM_001278296.1|protein_coding|10/12|c.1250G>A|p.Arg417His|1402/3270|1250/2193|417/730||,T|downstream_gene_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_152389.3|protein_coding||c.*5724G>A|||||4084|;p3_1000G_AA=C|||;p3_1000G_AC=54;p3_1000G_AF=0.0107827;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20022;p3_1000G_EAS_AF=0.0526;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219894330;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,4405;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2202;ESP6500_CDS_SIZES=NM_194302.2:5778;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=105;ESP6500_EA_AC=0,8600;ESP6500_EA_GTC=0,0,4300;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194302.2:missense;ESP6500_GL=CCDC108;ESP6500_GRCh38_POSITION=2:219029608;ESP6500_GS=29;ESP6500_GTC=0,1,6502;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_194302.2:c.1445G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194302.2:p.(R482H);ESP6500_MAF=0.0,0.0227,0.0077;ESP6500_PH=benign:0.022;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1352,0,1289
chr2	219038536	rs6736922	T	G	2419.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=0.934;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6736922;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CFAP65|CFAP65|transcript|NM_194302.3|protein_coding|4/35|c.196A>C|p.Met66Leu|308/5981|196/5778|66/1925||,G|missense_variant|MODERATE|CFAP65|CFAP65|transcript|NM_001278295.1|protein_coding|4/13|c.163A>C|p.Met55Leu|202/3319|163/2355|55/784||,G|initiator_codon_variant|LOW|CFAP65|CFAP65|transcript|NM_001278296.1|protein_coding|3/12|c.1A>C|p.Met1?|153/3270|1/2193|1/730||,G|initiator_codon_variant|LOW|CFAP65|CFAP65|transcript|NM_152389.3|protein_coding|3/4|c.1A>C|p.Met1?|153/2287|1/495|1/164||;p3_1000G_AA=G|||;p3_1000G_AC=2952;p3_1000G_AF=0.589457;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=21648;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219903258;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2475,1931;ESP6500_AA_AGE=551.4+/-378.3;ESP6500_AA_GTC=694,1087,422;ESP6500_CDS_SIZES=NM_194302.2:5778,NM_152389.2:495;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=54;ESP6500_EA_AC=6580,2020;ESP6500_EA_AGE=352.5+/-328.7;ESP6500_EA_GTC=2502,1576,222;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194302.2:missense,NM_152389.2:missense;ESP6500_GL=CCDC108;ESP6500_GRCh38_POSITION=2:219038536;ESP6500_GS=15,15;ESP6500_GTC=3196,2663,644;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_194302.2:c.196A>C,NM_152389.2:c.1A>C;ESP6500_HGVS_PROTEIN_VAR=NM_194302.2:p.(M66L),NM_152389.2:p.(M1L);ESP6500_MAF=23.4884,43.8266,30.3783;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=9055,3951	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2448,216,0
chr2	219039001	rs4674354	C	T	1334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4674354;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|CFAP65|CFAP65|transcript|NM_194302.3|protein_coding|3/35|c.48G>A|p.Val16Val|160/5981|48/5778|16/1925||,T|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_001278295.1|protein_coding|2/12|c.72-57G>A||||||,T|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_001278296.1|protein_coding|2/11|c.-42-423G>A||||||,T|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_152389.3|protein_coding|2/3|c.-42-423G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2932;p3_1000G_AF=0.585463;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=22604;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.7634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219903723;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6166;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2423,1983;ESP6500_AA_AGE=558.7+/-380.1;ESP6500_AA_GTC=665,1093,445;ESP6500_CDS_SIZES=NM_194302.2:5778,NM_152389.2:495;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=113;ESP6500_EA_AC=6581,2019;ESP6500_EA_AGE=352.5+/-328.7;ESP6500_EA_GTC=2502,1577,221;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194302.2:coding-synonymous,NM_152389.2:intron;ESP6500_GL=CCDC108;ESP6500_GRCh38_POSITION=2:219039001;ESP6500_GTC=3167,2670,666;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_194302.2:c.48G>A,NM_152389.2:c.-465G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194302.2:p.(V16),.;ESP6500_MAF=23.4767,45.0068,30.7704;ESP6500_TAC=9004,4002	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1363,126,0
chr2	219039065	rs4672910	T	C	931.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672910;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_194302.3|protein_coding|2/34|c.-2-15A>G||||||,C|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_001278295.1|protein_coding|2/12|c.72-121A>G||||||,C|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_001278296.1|protein_coding|2/11|c.-42-487A>G||||||,C|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_152389.3|protein_coding|2/3|c.-42-487A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2082;p3_1000G_AF=0.415735;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=24282;p3_1000G_EAS_AF=0.2679;p3_1000G_EUR_AF=0.671;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219903787;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1140,3266;ESP6500_AA_AGE=402.4+/-332.3;ESP6500_AA_GTC=155,830,1218;ESP6500_CDS_SIZES=NM_194302.2:5778,NM_152389.2:495;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=63;ESP6500_EA_AC=5719,2881;ESP6500_EA_AGE=671.5+/-402.8;ESP6500_EA_GTC=1874,1971,455;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194302.2:intron,NM_152389.2:intron;ESP6500_GL=CCDC108;ESP6500_GRCh38_POSITION=2:219039065;ESP6500_GTC=2029,2801,1673;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194302.2:c.-17A>G,NM_152389.2:c.-529A>G;ESP6500_MAF=33.5,25.8738,47.2628;ESP6500_TAC=6859,6147	GT:AD:DP:GQ:PL	1/1:0,25:25:75:960,75,0
chr2	219041344	rs11674400	C	A	677.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11674400;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_194302.3|protein_coding|1/34|c.-49+144G>T||||||,A|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_001278295.1|protein_coding|1/12|c.25+144G>T||||||,A|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_001278296.1|protein_coding|1/11|c.-89+144G>T||||||,A|intron_variant|MODIFIER|CFAP65|CFAP65|transcript|NM_152389.3|protein_coding|1/3|c.-89+144G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2067;p3_1000G_AF=0.41274;p3_1000G_AFR_AF=0.1929;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=3381;p3_1000G_EAS_AF=0.2659;p3_1000G_EUR_AF=0.671;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219906066;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:706,66,0
chr2	219055315	rs394452	A	G	1406.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=1.347;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs394452;dbSNPBuildID=80;ANN=G|synonymous_variant|LOW|IHH|IHH|transcript|NM_002181.3|protein_coding|3/3|c.1128T>C|p.Thr376Thr|1177/2072|1128/1236|376/411||,G|downstream_gene_variant|MODIFIER|MIR3131|MIR3131|transcript|NR_036081.1|pseudogene||n.*3373T>C|||||3373|;p3_1000G_AA=G|||;p3_1000G_AC=4438;p3_1000G_AF=0.886182;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=17256;p3_1000G_EAS_AF=0.9157;p3_1000G_EUR_AF=0.8072;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219920037;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4222,184;ESP6500_AA_GTC=2024,174,5;ESP6500_CDS_SIZES=NM_002181.3:1236;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=24;ESP6500_EA_AC=6852,1748;ESP6500_EA_GTC=2719,1414,167;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002181.3:coding-synonymous;ESP6500_GL=IHH;ESP6500_GRCh38_POSITION=2:219055315;ESP6500_GTC=4743,1588,172;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002181.3:c.1128T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002181.3:p.(T376);ESP6500_MAF=20.3256,4.1761,14.8547;ESP6500_TAC=11074,1932	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1435,123,0
chr2	219055690	rs3731881;334440	A	G	1230.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.26;SOR=0.984;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731881;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|IHH|IHH|transcript|NM_002181.3|protein_coding|3/3|c.753T>C|p.Pro251Pro|802/2072|753/1236|251/411||,G|downstream_gene_variant|MODIFIER|MIR3131|MIR3131|transcript|NR_036081.1|pseudogene||n.*2998T>C|||||2998|;p3_1000G_AA=G|||;p3_1000G_AC=2428;p3_1000G_AF=0.484824;p3_1000G_AFR_AF=0.4395;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=15926;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219920412;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1999,2407;ESP6500_AA_AGE=613.7+/-392.2;ESP6500_AA_GTC=456,1087,660;ESP6500_CDS_SIZES=NM_002181.3:1236;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=58;ESP6500_EA_AC=5732,2868;ESP6500_EA_AGE=449.0+/-362.0;ESP6500_EA_GTC=1881,1970,449;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002181.3:coding-synonymous;ESP6500_GL=IHH;ESP6500_GRCh38_POSITION=2:219055690;ESP6500_GTC=2337,3057,1109;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002181.3:c.753T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002181.3:p.(P251);ESP6500_MAF=33.3488,45.37,40.5582;ESP6500_TAC=7731,5275;CLINVAR_AF_TGP=0.4848;CLINVAR_ALLELEID=287965;CLINVAR_CLNDISDB=MedGen:C0221357,Orphanet:ORPHA294937,SNOMED_CT:43476002;CLINVAR_CLNDN=Brachydactyly;CLINVAR_CLNHGVS=NC_000002.12:g.219055690A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27983;CLINVAR_GENEINFO=IHH:3549;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3731881	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1259,111,0
chr2	219057351	rs34694069;rs397987874	G	GC	223.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34694069;dbSNPBuildID=126,138;ANN=GC|sequence_feature|LOW|IHH|IHH|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_002181.3|protein_coding|2/2|c.577+81dupG||||||,GC|downstream_gene_variant|MODIFIER|MIR3131|MIR3131|transcript|NR_036081.1|pseudogene||n.*1336dupG|||||1336|,GC|intron_variant|MODIFIER|IHH|IHH|transcript|NM_002181.3|protein_coding|2/2|c.577+81dupG||||||;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=2425;p3_1000G_AF=0.484225;p3_1000G_AFR_AF=0.438;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=14245;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219922073;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5266;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:261,21,0
chr2	219076341	rs897477	G	A	358.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs897477;dbSNPBuildID=86;ANN=A|3_prime_UTR_variant|MODIFIER|NHEJ1|NHEJ1|transcript|NM_024782.2|protein_coding|8/8|c.*40C>T|||||40|;p3_1000G_AA=A|||;p3_1000G_AC=3197;p3_1000G_AF=0.638379;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=18912;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.7644;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=219941063;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3040,1366;ESP6500_AA_AGE=454.0+/-350.5;ESP6500_AA_GTC=1054,932,217;ESP6500_CDS_SIZES=NM_024782.2:900;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=73;ESP6500_EA_AC=6587,2013;ESP6500_EA_AGE=351.6+/-328.3;ESP6500_EA_GTC=2513,1561,226;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024782.2:utr-3;ESP6500_GL=NHEJ1;ESP6500_GRCh38_POSITION=2:219076341;ESP6500_GTC=3567,2493,443;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024782.2:c.*40C>T;ESP6500_MAF=23.407,31.0032,25.9803;ESP6500_TAC=9627,3379	GT:AD:DP:GQ:PL	1/1:0,12:12:36:387,36,0
chr2	219147854	rs7585742	G	C	898.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.26;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7585742;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|NHEJ1|NHEJ1|transcript|NM_024782.2|protein_coding|3/7|c.391-59C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2072;p3_1000G_AF=0.413738;p3_1000G_AFR_AF=0.2012;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=18778;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.6421;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220012576;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:927,66,0
chr2	219157454	rs6436120	C	T	1295.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.85;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436120;dbSNPBuildID=116;ANN=T|downstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144890.1|protein_coding||c.*4455G>A|||||4005|,T|downstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144889.1|protein_coding||c.*4455G>A|||||4005|,T|downstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_144712.4|protein_coding||c.*4455G>A|||||4005|,T|intron_variant|MODIFIER|NHEJ1|NHEJ1|transcript|NM_024782.2|protein_coding|3/7|c.390+18G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4519;p3_1000G_AF=0.902356;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=20142;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220022176;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3343,1063;ESP6500_AA_AGE=387.0+/-326.3;ESP6500_AA_GTC=1273,797,133;ESP6500_CDS_SIZES=NM_024782.2:900;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=53;ESP6500_EA_AC=8575,25;ESP6500_EA_AGE=16.6+/-54.9;ESP6500_EA_GTC=4275,25,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024782.2:intron;ESP6500_GL=NHEJ1;ESP6500_GRCh38_POSITION=2:219157454;ESP6500_GTC=5548,822,133;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024782.2:c.390+18G>A;ESP6500_MAF=0.2907,24.1262,8.3654;ESP6500_TAC=11918,1088	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1324,125,0
chr2	219157713	rs2030452	G	C	1632.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.02;SOR=1.565;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2030452;dbSNPBuildID=94;ANN=C|downstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144890.1|protein_coding||c.*4196C>G|||||3746|,C|downstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144889.1|protein_coding||c.*4196C>G|||||3746|,C|downstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_144712.4|protein_coding||c.*4196C>G|||||3746|,C|intron_variant|MODIFIER|NHEJ1|NHEJ1|transcript|NM_024782.2|protein_coding|2/7|c.178-29C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2082;p3_1000G_AF=0.415735;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=19400;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.6421;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220022435;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1188,3218;ESP6500_AA_AGE=403.3+/-332.7;ESP6500_AA_GTC=170,848,1185;ESP6500_CDS_SIZES=NM_024782.2:900;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=36;ESP6500_EA_AC=5488,3112;ESP6500_EA_AGE=636.8+/-399.1;ESP6500_EA_GTC=1724,2040,536;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024782.2:intron;ESP6500_GL=NHEJ1;ESP6500_GRCh38_POSITION=2:219157713;ESP6500_GTC=1894,2888,1721;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_024782.2:c.178-29C>G;ESP6500_MAF=36.186,26.9632,48.6698;ESP6500_TAC=6676,6330	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1661,153,0
chr2	219164178	rs6753739	A	G	1675.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.62;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6753739;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|NHEJ1|NHEJ1|transcript|NM_024782.2|protein_coding||c.-5816T>C|||||3313|,G|intron_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144890.1|protein_coding|9/11|c.1297+55T>C||||||,G|intron_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144889.1|protein_coding|9/11|c.1273+55T>C||||||,G|intron_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_144712.4|protein_coding|8/10|c.922+55T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3074;p3_1000G_AF=0.613818;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.6412;p3_1000G_AN=5008;p3_1000G_DP=20078;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.7495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220028900;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,53:53:99:1|1:219164158_G_A:1704,159,0
chr2	219169108	rs3795986	A	G	862.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3795986;dbSNPBuildID=107;ANN=G|splice_region_variant&intron_variant|LOW|SLC23A3|SLC23A3|transcript|NM_001144890.1|protein_coding|3/11|c.443-6T>C||||||,G|splice_region_variant&intron_variant|LOW|SLC23A3|SLC23A3|transcript|NM_001144889.1|protein_coding|3/11|c.419-6T>C||||||,G|splice_region_variant&intron_variant|LOW|SLC23A3|SLC23A3|transcript|NM_144712.4|protein_coding|3/10|c.419-6T>C||||||,G|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding||c.*3478T>C|||||2789|,G|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding||c.*3478T>C|||||2789|,G|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene||n.*2789T>C|||||2789|,G|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding||c.*3478T>C|||||2789|,G|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene||n.*2789T>C|||||2789|,G|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding||c.*3478T>C|||||2789|;p3_1000G_AA=A|||;p3_1000G_AC=2070;p3_1000G_AF=0.413339;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=17508;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.6541;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220033830;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5818;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1318,2790;ESP6500_AA_GTC=229,860,965;ESP6500_CDS_SIZES=NM_144712.4:1482,NM_001144890.1:1857,NM_001144889.1:1833;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=83;ESP6500_EA_AC=5395,3007;ESP6500_EA_GTC=1729,1937,535;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144712.4:intron,NM_001144890.1:intron,NM_001144889.1:intron;ESP6500_GL=SLC23A3;ESP6500_GRCh38_POSITION=2:219169108;ESP6500_GTC=1958,2797,1500;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144712.4:c.419-6T>C,NM_001144890.1:c.443-6T>C,NM_001144889.1:c.419-6T>C;ESP6500_MAF=35.7891,32.0837,46.3389;ESP6500_TAC=6713,5797	GT:AD:DP:GQ:PL	1/1:0,27:27:81:891,81,0
chr2	219169234	rs6436121	T	C	599.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436121;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding||c.*3352A>G|||||2663|,C|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding||c.*3352A>G|||||2663|,C|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene||n.*2663A>G|||||2663|,C|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding||c.*3352A>G|||||2663|,C|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene||n.*2663A>G|||||2663|,C|downstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding||c.*3352A>G|||||2663|,C|intron_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144890.1|protein_coding|3/11|c.442+51A>G||||||,C|intron_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144889.1|protein_coding|3/11|c.418+75A>G||||||,C|intron_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_144712.4|protein_coding|3/10|c.418+75A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2071;p3_1000G_AF=0.413538;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.4179;p3_1000G_AN=5008;p3_1000G_DP=18532;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.6541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220033956;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5818;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=429,955;ESP6500_AA_GTC=68,293,331;ESP6500_CDS_SIZES=NM_144712.4:1482,NM_001144890.1:1857,NM_001144889.1:1833;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=128;ESP6500_EA_AC=2005,1177;ESP6500_EA_GTC=628,749,214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144712.4:intron,NM_001144890.1:intron,NM_001144889.1:intron;ESP6500_GL=SLC23A3;ESP6500_GRCh38_POSITION=2:219169234;ESP6500_GTC=696,1042,545;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144712.4:c.418+75A>G,NM_001144890.1:c.442+51A>G,NM_001144889.1:c.418+75A>G;ESP6500_MAF=36.9893,30.9971,46.6929;ESP6500_TAC=2434,2132	GT:AD:DP:GQ:PL	1/1:0,17:17:51:628,51,0
chr2	219172671	rs4674361	A	G	1551.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=0.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4674361;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding|9/9|c.1148T>C|p.Leu383Pro|1576/2350|1148/1233|383/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding|8/8|c.1148T>C|p.Leu383Pro|1313/2087|1148/1233|383/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding|9/9|c.1148T>C|p.Leu383Pro|1255/2029|1148/1233|383/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding|9/9|c.1148T>C|p.Leu383Pro|1221/1995|1148/1233|383/410||,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144890.1|protein_coding||c.-2687T>C|||||2576|,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144889.1|protein_coding||c.-2687T>C|||||2576|,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_144712.4|protein_coding||c.-2687T>C|||||2576|,G|non_coding_transcript_exon_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene|7/7|n.1251T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene|8/8|n.1193T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4984;p3_1000G_AF=0.995208;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=16873;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220037393;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4349,57;ESP6500_AA_AGE=56.8+/-93.2;ESP6500_AA_GTC=2146,57,0;ESP6500_CDS_SIZES=NM_015680.4:1233;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=69;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015680.4:missense;ESP6500_GL=CNPPD1;ESP6500_GRCh38_POSITION=2:219172671;ESP6500_GS=98;ESP6500_GTC=6446,57,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015680.4:c.1148T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015680.4:p.(L383P);ESP6500_MAF=0.0,1.2937,0.4383;ESP6500_PH=benign:0.0;ESP6500_TAC=12949,57	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1580,141,0
chr2	219172944	rs1127102	A	G	1432.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.56;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1127102;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding|9/9|c.875T>C|p.Leu292Pro|1303/2350|875/1233|292/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding|8/8|c.875T>C|p.Leu292Pro|1040/2087|875/1233|292/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding|9/9|c.875T>C|p.Leu292Pro|982/2029|875/1233|292/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding|9/9|c.875T>C|p.Leu292Pro|948/1995|875/1233|292/410||,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144890.1|protein_coding||c.-2960T>C|||||2849|,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144889.1|protein_coding||c.-2960T>C|||||2849|,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_144712.4|protein_coding||c.-2960T>C|||||2849|,G|non_coding_transcript_exon_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene|7/7|n.978T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene|8/8|n.920T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2013;p3_1000G_AF=0.401957;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=15637;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.6163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220037666;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1277,3129;ESP6500_AA_AGE=676.9+/-403.3;ESP6500_AA_GTC=199,879,1125;ESP6500_CDS_SIZES=NM_015680.4:1233;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=89;ESP6500_EA_AC=5167,3433;ESP6500_EA_AGE=476.2+/-369.3;ESP6500_EA_GTC=1545,2077,678;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015680.4:missense;ESP6500_GL=CNPPD1;ESP6500_GRCh38_POSITION=2:219172944;ESP6500_GS=98;ESP6500_GTC=1744,2956,1803;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015680.4:c.875T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015680.4:p.(L292P);ESP6500_MAF=39.9186,28.9832,49.5464;ESP6500_PH=benign:0.0;ESP6500_TAC=6444,6562	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1461,132,0
chr2	219173034	rs1043160	A	G	1704.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.43;SOR=0.9;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1043160;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding|9/9|c.785T>C|p.Ile262Thr|1213/2350|785/1233|262/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding|8/8|c.785T>C|p.Ile262Thr|950/2087|785/1233|262/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding|9/9|c.785T>C|p.Ile262Thr|892/2029|785/1233|262/410||,G|missense_variant|MODERATE|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding|9/9|c.785T>C|p.Ile262Thr|858/1995|785/1233|262/410||,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144890.1|protein_coding||c.-3050T>C|||||2939|,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_001144889.1|protein_coding||c.-3050T>C|||||2939|,G|upstream_gene_variant|MODIFIER|SLC23A3|SLC23A3|transcript|NM_144712.4|protein_coding||c.-3050T>C|||||2939|,G|non_coding_transcript_exon_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene|7/7|n.888T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene|8/8|n.830T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2055;p3_1000G_AF=0.410343;p3_1000G_AFR_AF=0.2655;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=16187;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.6223;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220037756;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1370,3036;ESP6500_AA_AGE=678.4+/-403.5;ESP6500_AA_GTC=223,924,1056;ESP6500_CDS_SIZES=NM_015680.4:1233;ESP6500_CG=2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=78;ESP6500_EA_AC=5239,3359;ESP6500_EA_AGE=481.4+/-370.6;ESP6500_EA_GTC=1589,2061,649;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015680.4:missense;ESP6500_GL=CNPPD1;ESP6500_GRCh38_POSITION=2:219173034;ESP6500_GS=89;ESP6500_GTC=1812,2985,1705;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015680.4:c.785T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015680.4:p.(I262T);ESP6500_MAF=39.0672,31.094,49.1772;ESP6500_PH=benign:0.0;ESP6500_TAC=6609,6395	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1733,153,0
chr2	219175608	rs1127101	A	G	1644.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=1.047;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1127101;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding|4/9|c.243T>C|p.Tyr81Tyr|671/2350|243/1233|81/410||,G|synonymous_variant|LOW|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding|3/8|c.243T>C|p.Tyr81Tyr|408/2087|243/1233|81/410||,G|synonymous_variant|LOW|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding|4/9|c.243T>C|p.Tyr81Tyr|350/2029|243/1233|81/410||,G|synonymous_variant|LOW|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding|4/9|c.243T>C|p.Tyr81Tyr|316/1995|243/1233|81/410||,G|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_024293.5|protein_coding||c.-2745A>G|||||2582|,G|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321109.1|protein_coding||c.-5128A>G|||||2582|,G|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321110.1|protein_coding||c.-5128A>G|||||3101|,G|non_coding_transcript_exon_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene|3/7|n.408T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene|4/8|n.350T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2013;p3_1000G_AF=0.401957;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=20076;p3_1000G_EAS_AF=0.2302;p3_1000G_EUR_AF=0.6163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220040330;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1281,3125;ESP6500_AA_AGE=700.7+/-406.6;ESP6500_AA_GTC=198,885,1120;ESP6500_CDS_SIZES=NM_015680.4:1233;ESP6500_CG=-5.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=157;ESP6500_EA_AC=5181,3419;ESP6500_EA_AGE=503.5+/-375.9;ESP6500_EA_GTC=1549,2083,668;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015680.4:coding-synonymous;ESP6500_GL=CNPPD1;ESP6500_GRCh38_POSITION=2:219175608;ESP6500_GTC=1747,2968,1788;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015680.4:c.243T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015680.4:p.(Y81);ESP6500_MAF=39.7558,29.074,49.6848;ESP6500_TAC=6462,6544	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1673,171,0
chr2	219176369	rs6436123	G	A	1023.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.32;SOR=3.334;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436123;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_024293.5|protein_coding||c.-1984G>A|||||1821|,A|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321109.1|protein_coding||c.-4367G>A|||||1821|,A|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321110.1|protein_coding||c.-4367G>A|||||2340|,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding|2/8|c.70-38C>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding|1/7|c.70-38C>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene|1/6|n.235-38C>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding|2/8|c.70-38C>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene|2/7|n.177-38C>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding|2/8|c.70-38C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2012;p3_1000G_AF=0.401757;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=17451;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.6163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220041091;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1282,3124;ESP6500_AA_AGE=415.7+/-337.3;ESP6500_AA_GTC=198,886,1119;ESP6500_CDS_SIZES=NM_015680.4:1233;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=24;ESP6500_EA_AC=5167,3433;ESP6500_EA_AGE=611.4+/-395.8;ESP6500_EA_GTC=1546,2075,679;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015680.4:intron;ESP6500_GL=CNPPD1;ESP6500_GRCh38_POSITION=2:219176369;ESP6500_GTC=1744,2961,1798;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015680.4:c.70-38C>T;ESP6500_MAF=39.9186,29.0967,49.5848;ESP6500_TAC=6449,6557	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1052,87,0
chr2	219176711	rs6436124	C	A	335.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.98;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436124;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_024293.5|protein_coding||c.-1642C>A|||||1479|,A|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321109.1|protein_coding||c.-4025C>A|||||1479|,A|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321110.1|protein_coding||c.-4025C>A|||||1998|,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding|2/8|c.69+49G>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding|1/7|c.69+49G>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene|1/6|n.234+49G>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding|2/8|c.69+49G>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene|2/7|n.176+49G>T||||||,A|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding|2/8|c.69+49G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2013;p3_1000G_AF=0.401957;p3_1000G_AFR_AF=0.2413;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=12038;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.6163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220041433;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1412,2538;ESP6500_AA_GTC=323,766,886;ESP6500_CDS_SIZES=NM_015680.4:1233;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=7;ESP6500_EA_AC=5034,2848;ESP6500_EA_GTC=1707,1620,614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015680.4:intron;ESP6500_GL=CNPPD1;ESP6500_GRCh38_POSITION=2:219176711;ESP6500_GTC=2030,2386,1500;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015680.4:c.69+49G>T;ESP6500_MAF=36.133,35.7468,45.5206;ESP6500_TAC=6446,5386	GT:AD:DP:GQ:PL	1/1:0,12:12:36:364,36,0
chr2	219176733	rs6436125	C	T	371.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436125;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_024293.5|protein_coding||c.-1620C>T|||||1457|,T|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321109.1|protein_coding||c.-4003C>T|||||1457|,T|upstream_gene_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321110.1|protein_coding||c.-4003C>T|||||1976|,T|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding|2/8|c.69+27G>A||||||,T|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding|1/7|c.69+27G>A||||||,T|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene|1/6|n.234+27G>A||||||,T|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding|2/8|c.69+27G>A||||||,T|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene|2/7|n.176+27G>A||||||,T|intron_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding|2/8|c.69+27G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3519;p3_1000G_AF=0.702676;p3_1000G_AFR_AF=0.5885;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=12058;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.9284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220041455;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2858,1316;ESP6500_AA_GTC=969,920,198;ESP6500_CDS_SIZES=NM_015680.4:1233;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=9;ESP6500_EA_AC=7741,485;ESP6500_EA_GTC=3646,449,18;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015680.4:intron;ESP6500_GL=CNPPD1;ESP6500_GRCh38_POSITION=2:219176733;ESP6500_GTC=4615,1369,216;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015680.4:c.69+27G>A;ESP6500_MAF=5.8959,31.5285,14.5242;ESP6500_TAC=10599,1801	GT:AD:DP:GQ:PL	1/1:0,12:12:36:400,36,0
chr2	219181627	rs2272017	G	C	959.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.143;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272017;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding||c.-4799C>G|||||3521|,C|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_015680.5|protein_coding||c.-4799C>G|||||4634|,C|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135629.1|pseudogene||n.-4634C>G|||||4634|,C|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321391.1|protein_coding||c.-4799C>G|||||4436|,C|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NR_135628.1|pseudogene||n.-4436C>G|||||4436|,C|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding||c.-4799C>G|||||3453|,C|intron_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_024293.5|protein_coding|7/8|c.880-13G>C||||||,C|intron_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321109.1|protein_coding|7/8|c.259-13G>C||||||,C|intron_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321110.1|protein_coding|6/8|c.259-13G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2309;p3_1000G_AF=0.461062;p3_1000G_AFR_AF=0.3253;p3_1000G_AMR_AF=0.4769;p3_1000G_AN=5008;p3_1000G_DP=19935;p3_1000G_EAS_AF=0.2371;p3_1000G_EUR_AF=0.7256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220046349;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.592;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1716,2690;ESP6500_AA_AGE=516.2+/-369.1;ESP6500_AA_GTC=345,1026,832;ESP6500_CDS_SIZES=NM_024293.4:1632;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=108;ESP6500_EA_AC=6301,2299;ESP6500_EA_AGE=706.0+/-405.5;ESP6500_EA_GTC=2284,1733,283;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024293.4:intron;ESP6500_GL=FAM134A;ESP6500_GRCh38_POSITION=2:219181627;ESP6500_GTC=2629,2759,1115;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_024293.4:c.880-13G>C;ESP6500_MAF=26.7326,38.9469,38.3592;ESP6500_TAC=8017,4989	GT:AD:DP:GQ:PL	1/1:0,30:30:90:988,90,0
chr2	219182253	rs3731900	C	A	873.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.13;SOR=1.143;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731900;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|FAM134A|FAM134A|transcript|NM_024293.5|protein_coding|9/9|c.1256C>A|p.Pro419Gln|1419/4641|1256/1632|419/543||,A|missense_variant|MODERATE|FAM134A|FAM134A|transcript|NM_001321109.1|protein_coding|9/9|c.635C>A|p.Pro212Gln|1331/4553|635/1011|212/336||,A|missense_variant|MODERATE|FAM134A|FAM134A|transcript|NM_001321110.1|protein_coding|8/9|c.635C>A|p.Pro212Gln|1188/4305|635/906|212/301||,A|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding||c.-5425G>T|||||4147|,A|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding||c.-5425G>T|||||4079|;p3_1000G_AA=C|||;p3_1000G_AC=2041;p3_1000G_AF=0.407548;p3_1000G_AFR_AF=0.2443;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=17155;p3_1000G_EAS_AF=0.2361;p3_1000G_EUR_AF=0.6372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220046975;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1315,3091;ESP6500_AA_AGE=441.8+/-346.5;ESP6500_AA_GTC=206,903,1094;ESP6500_CDS_SIZES=NM_024293.4:1632;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=111;ESP6500_EA_AC=5382,3218;ESP6500_EA_AGE=651.0+/-400.8;ESP6500_EA_GTC=1668,2046,586;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024293.4:missense;ESP6500_GL=FAM134A;ESP6500_GRCh38_POSITION=2:219182253;ESP6500_GS=76;ESP6500_GTC=1874,2949,1680;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_024293.4:c.1256C>A;ESP6500_HGVS_PROTEIN_VAR=NM_024293.4:p.(P419Q);ESP6500_MAF=37.4186,29.8457,48.5084;ESP6500_PH=benign:0.001;ESP6500_TAC=6697,6309	GT:AD:DP:GQ:PL	1/1:0,30:30:90:902,90,0
chr2	219182671	rs3731901	C	T	351.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731901;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_024293.5|protein_coding|9/9|c.*42C>T|||||42|,T|3_prime_UTR_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321109.1|protein_coding|9/9|c.*42C>T|||||42|,T|3_prime_UTR_variant|MODIFIER|FAM134A|FAM134A|transcript|NM_001321110.1|protein_coding|9/9|c.*42C>T|||||42|,T|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321389.1|protein_coding||c.-5843G>A|||||4565|,T|upstream_gene_variant|MODIFIER|CNPPD1|CNPPD1|transcript|NM_001321390.1|protein_coding||c.-5843G>A|||||4497|;p3_1000G_AA=C|||;p3_1000G_AC=2019;p3_1000G_AF=0.403155;p3_1000G_AFR_AF=0.2315;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=17853;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.6372;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220047393;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1259,3147;ESP6500_AA_AGE=401.7+/-332.1;ESP6500_AA_GTC=193,873,1137;ESP6500_CDS_SIZES=NM_024293.4:1632;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=26;ESP6500_EA_AC=5372,3228;ESP6500_EA_AGE=616.8+/-396.6;ESP6500_EA_GTC=1663,2046,591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024293.4:utr-3;ESP6500_GL=FAM134A;ESP6500_GRCh38_POSITION=2:219182671;ESP6500_GTC=1856,2919,1728;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024293.4:c.*42C>T;ESP6500_MAF=37.5349,28.5747,49.0158;ESP6500_TAC=6631,6375	GT:AD:DP:GQ:PL	1/1:0,11:11:33:380,33,0
chr2	219207081	rs6714820	C	G	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.42;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=1.59;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6714820;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding||c.*2857G>C|||||2685|,G|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270998.1|protein_coding|2/9|c.55+39C>G||||||,G|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270999.1|protein_coding|2/8|c.55+39C>G||||||,G|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_138802.2|protein_coding|1/8|c.55+39C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=3694;p3_1000G_AF=0.73762;p3_1000G_AFR_AF=0.4123;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=6411;p3_1000G_EAS_AF=0.8631;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220071803;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2242,2020;ESP6500_AA_GTC=620,1002,509;ESP6500_CDS_SIZES=NM_138802.1:774;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=6;ESP6500_EA_AC=7512,822;ESP6500_EA_GTC=3395,722,50;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138802.1:intron;ESP6500_GL=ZFAND2B;ESP6500_GRCh38_POSITION=2:219207081;ESP6500_GTC=4015,1724,559;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_138802.1:c.55+39C>G;ESP6500_MAF=9.8632,47.3956,22.5627;ESP6500_TAC=9754,2842	GT:AD:DP:GQ:PL	0/1:5,9:14:99:243,0,135
chr2	219207157	rs66491679	TG	T	202.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.34;SOR=4.407;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66491679;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding||c.*2780delC|||||2608|,T|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270998.1|protein_coding|2/9|c.55+124delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270999.1|protein_coding|2/8|c.55+124delG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_138802.2|protein_coding|1/8|c.55+124delG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,8:8:24:240,24,0
chr2	219208044	rs4674366	G	T	2030.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=1.341;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4674366;dbSNPBuildID=111;ANN=T|splice_region_variant&intron_variant|LOW|ZFAND2B|ZFAND2B|transcript|NM_001270998.1|protein_coding|5/9|c.434+6G>T||||||,T|splice_region_variant&intron_variant|LOW|ZFAND2B|ZFAND2B|transcript|NM_001270999.1|protein_coding|4/8|c.302+6G>T||||||,T|splice_region_variant&intron_variant|LOW|ZFAND2B|ZFAND2B|transcript|NM_138802.2|protein_coding|4/8|c.434+6G>T||||||,T|downstream_gene_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding||c.*1894C>A|||||1722|;p3_1000G_AA=t|||;p3_1000G_AC=4939;p3_1000G_AF=0.986222;p3_1000G_AFR_AF=0.9493;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18957;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220072766;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4218,186;ESP6500_AA_AGE=113.8+/-151.8;ESP6500_AA_GTC=2023,172,7;ESP6500_CDS_SIZES=NM_138802.1:774;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=67;ESP6500_EA_AC=8593,5;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4294,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138802.1:intron;ESP6500_GL=ZFAND2B;ESP6500_GRCh38_POSITION=2:219208044;ESP6500_GTC=6317,177,7;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_138802.1:c.434+6G>T;ESP6500_MAF=0.0582,4.2234,1.469;ESP6500_TAC=12811,191	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2059,195,0
chr2	219208130	rs4674367	C	T	867.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.606;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.679;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.77;SOR=1.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4674367;dbSNPBuildID=111;ANN=T|downstream_gene_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding||c.*1808G>A|||||1636|,T|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270998.1|protein_coding|5/9|c.434+92C>T||||||,T|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270999.1|protein_coding|4/8|c.302+92C>T||||||,T|intron_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_138802.2|protein_coding|4/8|c.434+92C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1975;p3_1000G_AF=0.394369;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=20354;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.7167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220072852;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4008;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,29:57:99:896,0,880
chr2	219210071	rs73993544	T	A	512.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.572;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.444;SOR=0.357;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73993544;dbSNPBuildID=130;ANN=A|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270998.1|protein_coding||c.*765T>A|||||420|,A|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270999.1|protein_coding||c.*765T>A|||||420|,A|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_138802.2|protein_coding||c.*765T>A|||||420|,A|intron_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding|18/18|c.2421-25A>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=244;p3_1000G_AF=0.048722;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=18048;p3_1000G_EAS_AF=0.0903;p3_1000G_EUR_AF=0.0179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220074793;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=369,4037;ESP6500_AA_AGE=187.4+/-214.1;ESP6500_AA_GTC=20,329,1854;ESP6500_CDS_SIZES=NM_005689.2:2529;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=83;ESP6500_EA_AC=95,8505;ESP6500_EA_AGE=53.1+/-113.8;ESP6500_EA_GTC=0,95,4205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005689.2:intron;ESP6500_GL=ABCB6;ESP6500_GRCh38_POSITION=2:219210071;ESP6500_GTC=20,424,6059;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_005689.2:c.2421-25A>T;ESP6500_MAF=1.1047,8.3749,3.5676;ESP6500_TAC=464,12542	GT:AD:DP:GQ:PL	0/1:15,20:35:99:541,0,386
chr2	219210323	rs78861870	T	C	488.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.16;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.419;SOR=0.676;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78861870;dbSNPBuildID=131;ANN=C|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270998.1|protein_coding||c.*1017T>C|||||672|,C|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270999.1|protein_coding||c.*1017T>C|||||672|,C|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_138802.2|protein_coding||c.*1017T>C|||||672|,C|intron_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding|17/18|c.2352-25A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=245;p3_1000G_AF=0.0489217;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=18074;p3_1000G_EAS_AF=0.0903;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220075045;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=371,4035;ESP6500_AA_AGE=188.8+/-215.1;ESP6500_AA_GTC=21,329,1853;ESP6500_CDS_SIZES=NM_005689.2:2529;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=68;ESP6500_EA_AC=95,8505;ESP6500_EA_AGE=52.7+/-113.3;ESP6500_EA_GTC=0,95,4205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005689.2:intron;ESP6500_GL=ABCB6;ESP6500_GRCh38_POSITION=2:219210323;ESP6500_GTC=21,424,6058;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005689.2:c.2352-25A>G;ESP6500_MAF=1.1047,8.4203,3.583;ESP6500_TAC=466,12540	GT:AD:DP:GQ:PL	0/1:41,19:60:99:517,0,971
chr2	219213774	rs2139823	T	C	524.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2139823;dbSNPBuildID=96;ANN=C|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270998.1|protein_coding||c.*4468T>C|||||4123|,C|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_001270999.1|protein_coding||c.*4468T>C|||||4123|,C|downstream_gene_variant|MODIFIER|ZFAND2B|ZFAND2B|transcript|NM_138802.2|protein_coding||c.*4468T>C|||||4123|,C|intron_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding|9/18|c.1578+52A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=4863;p3_1000G_AF=0.971046;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17719;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220078496;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1627,125;ESP6500_AA_GTC=754,119,3;ESP6500_CDS_SIZES=NM_005689.2:2529;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=274;ESP6500_EA_AC=3978,4;ESP6500_EA_GTC=1987,4,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005689.2:intron;ESP6500_GL=ABCB6;ESP6500_GRCh38_POSITION=2:219213774;ESP6500_GTC=2741,123,3;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005689.2:c.1578+52A>G;ESP6500_MAF=0.1005,7.1347,2.2497;ESP6500_TAC=5605,129	GT:AD:DP:GQ:PL	1/1:0,15:15:45:553,45,0
chr2	219218053	rs73993546	G	C	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.192;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=3.424;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.153;SOR=0.138;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73993546;dbSNPBuildID=130;ANN=C|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding||c.*2394C>G|||||1327|,C|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding||c.*2394C>G|||||1327|,C|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene||n.*1327C>G|||||1327|,C|intron_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding|1/18|c.549+72C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=246;p3_1000G_AF=0.0491214;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=16525;p3_1000G_EAS_AF=0.0913;p3_1000G_EUR_AF=0.0179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220082775;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0143;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:323,0,451
chr2	219218557	rs1109866	C	T	543.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.346;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=6.133;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.401;SOR=0.216;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1109866;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding|1/19|c.117G>A|p.Leu39Leu|434/3018|117/2529|39/842||,T|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding||c.*1890G>A|||||823|,T|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding||c.*1890G>A|||||823|,T|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene||n.*823G>A|||||823|;p3_1000G_AA=t|||;p3_1000G_AC=3696;p3_1000G_AF=0.738019;p3_1000G_AFR_AF=0.4145;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=15303;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220083279;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8006;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2155,2247;ESP6500_AA_GTC=550,1055,596;ESP6500_CDS_SIZES=NM_005689.2:2529;ESP6500_CG=2.4;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=22;ESP6500_EA_AC=7716,870;ESP6500_EA_GTC=3473,770,50;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005689.2:coding-synonymous;ESP6500_GL=ABCB6;ESP6500_GRCh38_POSITION=2:219218557;ESP6500_GTC=4023,1825,646;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005689.2:c.117G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005689.2:p.(L39);ESP6500_MAF=10.1328,48.955,23.9991;ESP6500_TAC=9871,3117	GT:AD:DP:GQ:PL	0/1:25,24:49:99:572,0,765
chr2	219218731	rs1109867	G	T	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1109867;dbSNPBuildID=86;ANN=T|5_prime_UTR_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding|1/19|c.-58C>A|||||58|,T|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding||c.*1716C>A|||||649|,T|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding||c.*1716C>A|||||649|,T|downstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene||n.*649C>A|||||649|;p3_1000G_AA=g|||;p3_1000G_AC=3696;p3_1000G_AF=0.738019;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=13512;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220083453;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:63:125,0,63
chr2	219221123	rs2276633	A	G	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.071;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.796;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.235;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276633;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding|14/16|c.2325T>C|p.Thr775Thr|2560/3822|2325/2520|775/839||,G|synonymous_variant|LOW|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding|13/15|c.2325T>C|p.Thr775Thr|2508/3770|2325/2520|775/839||,G|upstream_gene_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding||c.-2450T>C|||||2133|,G|non_coding_transcript_exon_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene|14/16|n.2501T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4354;p3_1000G_AF=0.869409;p3_1000G_AFR_AF=0.6195;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=15135;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.9821;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220085845;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2608,1170;ESP6500_AA_GTC=919,770,200;ESP6500_CDS_SIZES=NM_024085.3:2520,NM_001077198.1:2520;ESP6500_CG=-9.8;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=22;ESP6500_EA_AC=8094,106;ESP6500_EA_GTC=3996,102,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024085.3:coding-synonymous,NM_001077198.1:coding-synonymous;ESP6500_GL=ATG9A;ESP6500_GRCh38_POSITION=2:219221123;ESP6500_GTC=4915,872,202;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024085.3:c.2325T>C,NM_001077198.1:c.2325T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024085.3:p.(T775),NM_001077198.1:p.(T775);ESP6500_MAF=1.2927,30.9688,10.6529;ESP6500_TAC=10702,1276	GT:AD:DP:GQ:PL	0/1:10,13:23:99:312,0,224
chr2	219223526	rs908196	A	G	840.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=0.305;SOR=1.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs908196;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|ABCB6|ABCB6|transcript|NM_005689.2|protein_coding||c.-4853T>C|||||4536|,G|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding|10/15|c.1599+59T>C||||||,G|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding|9/14|c.1599+59T>C||||||,G|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene|10/15|n.1775+59T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3686;p3_1000G_AF=0.736022;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=18348;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220088248;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,30:39:99:869,0,184
chr2	219224868	rs3216709;rs397840291;~rs3216709	T	TG	367.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.489;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=5.238;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.383;SOR=2.247;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3216709,rs67100330;dbSNPBuildID=130,138;ANN=TG|upstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding||c.-8283_-8282insG|||||4888|,TG|upstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding||c.-5390_-5389insG|||||4888|,TG|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding|7/15|c.517-15dupC||||||,TG|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding|6/14|c.517-15dupC||||||,TG|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene|7/15|n.752-15dupC||||||;p3_1000G_AC=3651;p3_1000G_AF=0.729034;p3_1000G_AFR_AF=0.4024;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=18400;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.8887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220089590;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=INDEL;ESP6500_AA_AC=1735,5,2014;ESP6500_AA_GTC=464,2,805,1,1,604;ESP6500_CDS_SIZES=NM_024085.3:2520,NM_024085.3:2520,NM_001077198.1:2520,NM_001077198.1:2520;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=41;ESP6500_EA_AC=6922,93,815;ESP6500_EA_GTC=3085,79,673,1,12,65;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024085.3:intron,NM_024085.3:intron,NM_001077198.1:intron,NM_001077198.1:intron;ESP6500_GL=ATG9A;ESP6500_GRCh38_POSITION=2:219224868;ESP6500_GTC=3549,81,1478,2,13,669;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_024085.3:c.517-15_517-14insG,NM_024085.3:c.517-15_517-14insC,NM_001077198.1:c.517-15_517-14insG,NM_001077198.1:c.517-15_517-14insC;ESP6500_MAF=11.5964,46.3506,25.2676;ESP6500_TAC=8657,98,2829	GT:AD:DP:GQ:PL	0/1:13,16:29:99:405,0,339
chr2	219224963	rs2276637	G	C	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.759;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=7.991;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0;SOR=0.415;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276637;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding||c.-5295G>C|||||4925|,C|upstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding||c.-8188G>C|||||4794|,C|upstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding||c.-5295G>C|||||4794|,C|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding|7/15|c.516+108C>G||||||,C|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding|6/14|c.516+108C>G||||||,C|intron_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene|7/15|n.751+108C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=4245;p3_1000G_AF=0.847644;p3_1000G_AFR_AF=0.5401;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=19960;p3_1000G_EAS_AF=0.9077;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220089685;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,9:21:99:281,0,377
chr2	219232181	rs3817424	A	T	719.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=5.11;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=-0.07;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3817424;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding||c.-4157T>A|||||2493|,T|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding||c.-4157T>A|||||2493|,T|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene||n.-2493T>A|||||2493|,T|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding||c.*4891T>A|||||4417|,T|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding||c.*4891T>A|||||4417|,T|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding||c.*4891T>A|||||4417|,T|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding|3/13|c.262-79A>T||||||,T|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding|1/10|c.-266-309A>T||||||,T|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding|3/13|c.262-79A>T||||||;p3_1000G_AA=N|||;p3_1000G_AC=813;p3_1000G_AF=0.16234;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=21370;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220096903;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,24:48:99:748,0,661
chr2	219232535	rs61747682	G	C	444.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.448;SOR=0.798;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61747682;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding|5/14|c.410G>C|p.Ser137Thr|511/2506|410/2181|137/726||,C|missense_variant|MODERATE|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding|5/14|c.410G>C|p.Ser137Thr|584/2579|410/2181|137/726||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding|2/11|c.-221G>C||||||,C|5_prime_UTR_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding|2/11|c.-221G>C|||||616|,C|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding||c.-4511C>G|||||2847|,C|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding||c.-4511C>G|||||2847|,C|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene||n.-2847C>G|||||2847|,C|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding||c.*4537C>G|||||4063|,C|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding||c.*4537C>G|||||4063|,C|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding||c.*4537C>G|||||4063|;p3_1000G_AA=g|||;p3_1000G_AC=261;p3_1000G_AF=0.0521166;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=20738;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220097257;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=392,3474;ESP6500_AA_GTC=23,346,1564;ESP6500_CDS_SIZES=NM_018089.2:2181,NM_001042410.1:2181;ESP6500_CG=2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=68;ESP6500_EA_AC=91,8165;ESP6500_EA_GTC=0,91,4037;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018089.2:missense,NM_001042410.1:missense;ESP6500_GL=ANKZF1;ESP6500_GRCh38_POSITION=2:219232535;ESP6500_GS=58,58;ESP6500_GTC=23,437,5601;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_018089.2:c.410G>C,NM_001042410.1:c.410G>C;ESP6500_HGVS_PROTEIN_VAR=NM_018089.2:p.(S137T),NM_001042410.1:p.(S137T);ESP6500_MAF=1.1022,10.1397,3.9845;ESP6500_PH=benign:0.135,benign:0.135;ESP6500_TAC=483,11639	GT:AD:DP:GQ:PL	0/1:31,18:49:99:473,0,843
chr2	219234036	rs73991426	A	G	1096.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.33;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=8.17;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.66;SOR=0.22;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73991426;dbSNPBuildID=130;ANN=G|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_001077198.2|protein_coding||c.-6012T>C|||||4348|,G|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NM_024085.4|protein_coding||c.-6012T>C|||||4348|,G|upstream_gene_variant|MODIFIER|ATG9A|ATG9A|transcript|NR_104255.1|pseudogene||n.-4348T>C|||||4348|,G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding||c.*3036T>C|||||2562|,G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding||c.*3036T>C|||||2562|,G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding||c.*3036T>C|||||2562|,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding|8/13|c.1048+93A>G||||||,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding|5/10|c.418+93A>G||||||,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding|8/13|c.1048+93A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=262;p3_1000G_AF=0.0523163;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=21121;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.0179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220098758;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1125,0,912
chr2	219235901	rs55727457	T	C	1141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.76;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=4.009;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.25;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55727457;dbSNPBuildID=129;ANN=C|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding||c.*1171A>G|||||697|,C|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding||c.*1171A>G|||||697|,C|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding||c.*1171A>G|||||697|,C|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding|12/13|c.1971+26T>C||||||,C|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding|9/10|c.1341+26T>C||||||,C|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding|12/13|c.1971+26T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=262;p3_1000G_AF=0.0523163;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=19353;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220100623;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=408,3872;ESP6500_AA_GTC=24,360,1756;ESP6500_CDS_SIZES=NM_018089.2:2181,NM_001042410.1:2181;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=114;ESP6500_EA_AC=88,8344;ESP6500_EA_GTC=0,88,4128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018089.2:intron,NM_001042410.1:intron;ESP6500_GL=ANKZF1;ESP6500_GRCh38_POSITION=2:219235901;ESP6500_GTC=24,448,5884;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018089.2:c.1971+26T>C,NM_001042410.1:c.1971+26T>C;ESP6500_MAF=1.0436,9.5327,3.9018;ESP6500_TAC=496,12216	GT:AD:DP:GQ:PL	0/1:55,40:95:99:1170,0,1352
chr2	219235961	rs2293078	C	G	1236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.31;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=0.723;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.014;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293078;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding||c.*1111G>C|||||637|,G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding||c.*1111G>C|||||637|,G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding||c.*1111G>C|||||637|,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding|12/13|c.1972-49C>G||||||,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding|9/10|c.1342-49C>G||||||,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding|12/13|c.1972-49C>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=813;p3_1000G_AF=0.16234;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=18609;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220100683;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=906,3238;ESP6500_AA_GTC=106,694,1272;ESP6500_CDS_SIZES=NM_018089.2:2181,NM_001042410.1:2181;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=74;ESP6500_EA_AC=813,7587;ESP6500_EA_GTC=38,737,3425;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018089.2:intron,NM_001042410.1:intron;ESP6500_GL=ANKZF1;ESP6500_GRCh38_POSITION=2:219235961;ESP6500_GTC=144,1431,4697;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_018089.2:c.1972-49C>G,NM_001042410.1:c.1972-49C>G;ESP6500_MAF=9.6786,21.8629,13.7038;ESP6500_TAC=1719,10825	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1265,0,1501
chr2	219236200	rs56927225	A	G	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.05;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.12;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56927225;dbSNPBuildID=129;ANN=G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding||c.*872T>C|||||398|,G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding||c.*872T>C|||||398|,G|downstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding||c.*872T>C|||||398|,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding|13/13|c.2057+105A>G||||||,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding|10/10|c.1427+105A>G||||||,G|intron_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding|13/13|c.2057+105A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=814;p3_1000G_AF=0.16254;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=20658;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220100922;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1973;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,17:33:99:554,0,441
chr2	219238670	rs146847433	GTGTGGTATAAGAGAAAAGA	G	166.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.15;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=-0.132;SOR=1.229;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs146847433;dbSNPBuildID=134;ANN=G|downstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding||c.*2226_*2244delTGTGGTATAAGAGAAAAGA|||||2002|,G|downstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding||c.*2226_*2244delTGTGGTATAAGAGAAAAGA|||||2002|,G|downstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding||c.*2226_*2244delTGTGGTATAAGAGAAAAGA|||||2002|,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding|12/16|c.1137+16_1137+34delTCTTTTCTCTTATACCACA||||||,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding|9/13|c.867+16_867+34delTCTTTTCTCTTATACCACA||||||,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding|12/16|c.1137+16_1137+34delTCTTTTCTCTTATACCACA||||||;p3_1000G_AC=95;p3_1000G_AF=0.0189696;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=23655;p3_1000G_EAS_AF=0.0853;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220103392;p3_1000G_GRCH37_REF=GTGTGGTATAAGAGAAAAGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=INDEL;ESP6500_AA_AC=18,4248;ESP6500_AA_GTC=6,6,2121;ESP6500_CDS_SIZES=NM_024506.3:1965;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=63;ESP6500_EA_AC=36,8218;ESP6500_EA_GTC=15,6,4106;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024506.3:intron;ESP6500_GL=GLB1L;ESP6500_GRCh38_POSITION=2:219238670;ESP6500_GTC=21,12,6227;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024506.3:c.1137+16_1137+34del19;ESP6500_MAF=0.4362,0.4219,0.4313;ESP6500_TAC=54,12466	GT:AD:DP:GQ:PL	0/1:16,6:22:99:204,0,3009
chr2	219239876	rs73991428	A	T	921.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.95;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0.846;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.812;SOR=0.85;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73991428;dbSNPBuildID=130;ANN=T|downstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001042410.1|protein_coding||c.*3431A>T|||||3207|,T|downstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_001282792.1|protein_coding||c.*3431A>T|||||3207|,T|downstream_gene_variant|MODIFIER|ANKZF1|ANKZF1|transcript|NM_018089.2|protein_coding||c.*3431A>T|||||3207|,T|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding|7/16|c.722-43T>A||||||,T|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding|4/13|c.452-43T>A||||||,T|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding|7/16|c.722-43T>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=261;p3_1000G_AF=0.0521166;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=21205;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220104598;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=449,3957;ESP6500_AA_AGE=215.5+/-234.4;ESP6500_AA_GTC=29,391,1783;ESP6500_CDS_SIZES=NM_024506.3:1965;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=118;ESP6500_EA_AC=94,8506;ESP6500_EA_AGE=52.7+/-113.3;ESP6500_EA_GTC=0,94,4206;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024506.3:intron;ESP6500_GL=GLB1L;ESP6500_GRCh38_POSITION=2:219239876;ESP6500_GTC=29,485,5989;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_024506.3:c.722-43T>A;ESP6500_MAF=1.093,10.1906,4.175;ESP6500_TAC=543,12463	GT:AD:DP:GQ:PL	0/1:40,39:79:99:950,0,1133
chr2	219242943	rs3755049	A	G	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.06;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.05;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3755049;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.-3057A>G|||||2527|,G|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.-2536A>G|||||2536|,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding|3/16|c.240-25T>C||||||,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding|2/13|c.240-25T>C||||||,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding|3/16|c.240-25T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=263;p3_1000G_AF=0.052516;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=17107;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220107665;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=415,3991;ESP6500_AA_AGE=750.7+/-412.1;ESP6500_AA_GTC=27,361,1815;ESP6500_CDS_SIZES=NM_024506.3:1965;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=48;ESP6500_EA_AC=86,8514;ESP6500_EA_AGE=805.9+/-407.3;ESP6500_EA_GTC=0,86,4214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024506.3:intron;ESP6500_GL=GLB1L;ESP6500_GRCh38_POSITION=2:219242943;ESP6500_GTC=27,447,6029;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024506.3:c.240-25T>C;ESP6500_MAF=1.0,9.419,3.8521;ESP6500_TAC=501,12505	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,9:22:99:0|1:219242943_A_G:318,0,721
chr2	219242944	rs3755050	A	C	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.602;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3755050;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.-3056A>C|||||2526|,C|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.-2535A>C|||||2535|,C|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding|3/16|c.240-26T>G||||||,C|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding|2/13|c.240-26T>G||||||,C|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding|3/16|c.240-26T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=262;p3_1000G_AF=0.0523163;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=17134;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.0179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220107666;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0133;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=417,3989;ESP6500_AA_AGE=743.8+/-411.5;ESP6500_AA_GTC=27,363,1813;ESP6500_CDS_SIZES=NM_024506.3:1965;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=47;ESP6500_EA_AC=85,8515;ESP6500_EA_AGE=803.2+/-407.3;ESP6500_EA_GTC=0,85,4215;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024506.3:intron;ESP6500_GL=GLB1L;ESP6500_GRCh38_POSITION=2:219242944;ESP6500_GTC=27,448,6028;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_024506.3:c.240-26T>G;ESP6500_MAF=0.9884,9.4644,3.8598;ESP6500_TAC=502,12504	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,8:21:99:0|1:219242943_A_G:318,0,721
chr2	219242976	rs3755051	G	A	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.046;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.678;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3755051;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.-3024G>A|||||2494|,A|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.-2503G>A|||||2503|,A|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding|3/16|c.240-58C>T||||||,A|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding|2/13|c.240-58C>T||||||,A|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding|3/16|c.240-58C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17504;p3_1000G_EAS_AF=0.0188;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220107698;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:220,0,321
chr2	219243045	rs117945358	T	G	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117945358;dbSNPBuildID=132;ANN=G|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.-2955T>G|||||2425|,G|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.-2434T>G|||||2434|,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding|3/16|c.239+103A>C||||||,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding|2/13|c.239+103A>C||||||,G|intron_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding|3/16|c.239+103A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=19;p3_1000G_AF=0.00379393;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17412;p3_1000G_EAS_AF=0.0188;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220107767;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,6:13:99:203,0,216
chr2	219243578	rs11552796	T	C	573.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.239;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-1.215;SOR=0.488;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11552796;dbSNPBuildID=120;ANN=C|5_prime_UTR_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding|2/17|c.-5A>G|||||5|,C|5_prime_UTR_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding|1/14|c.-5A>G|||||5|,C|5_prime_UTR_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding|2/17|c.-5A>G|||||5|,C|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.-2422T>C|||||1892|,C|upstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.-1901T>C|||||1901|;p3_1000G_AA=C|||;p3_1000G_AC=935;p3_1000G_AF=0.186701;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=16740;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.0924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220108300;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1317,3089;ESP6500_AA_AGE=692.5+/-405.5;ESP6500_AA_GTC=203,911,1089;ESP6500_CDS_SIZES=NM_024506.3:1965;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=842,7758;ESP6500_EA_AGE=779.6+/-407.7;ESP6500_EA_GTC=38,766,3496;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024506.3:utr-5;ESP6500_GL=GLB1L;ESP6500_GRCh38_POSITION=2:219243578;ESP6500_GTC=241,1677,4585;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024506.3:c.-5A>G;ESP6500_MAF=9.7907,29.8911,16.6;ESP6500_TAC=2159,10847	GT:AD:DP:GQ:PL	0/1:17,21:38:99:602,0,467
chr2	219248520	rs7601549	T	G	2651.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.89;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs372568512,rs7601549;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|STK16|STK16|transcript|NM_001008910.2|protein_coding|8/8|c.879T>G|p.Leu293Leu|1036/2853|879/918|293/305||,G|upstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286423.1|protein_coding||c.-4947A>C|||||3091|,G|upstream_gene_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene||n.-4723T>G|||||4723|,G|upstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_001286427.1|protein_coding||c.-4947A>C|||||4889|,G|upstream_gene_variant|MODIFIER|GLB1L|GLB1L|transcript|NM_024506.4|protein_coding||c.-4947A>C|||||3091|,G|downstream_gene_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_006000.2|protein_coding||c.*1832A>C|||||1191|,G|downstream_gene_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_001278552.1|protein_coding||c.*1832A>C|||||1191|,G|non_coding_transcript_exon_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene|8/8|n.1301T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4864;p3_1000G_AF=0.971246;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17710;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220113242;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3756,300;ESP6500_AA_GTC=1739,278,11;ESP6500_CDS_SIZES=NM_001008910.2:918;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=73;ESP6500_EA_AC=8376,2;ESP6500_EA_GTC=4187,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001008910.2:coding-synonymous;ESP6500_GL=STK16;ESP6500_GRCh38_POSITION=2:219248520;ESP6500_GTC=5926,280,11;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001008910.2:c.879T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001008910.2:p.(L293);ESP6500_MAF=0.0239,7.3964,2.4288;ESP6500_TAC=12132,302	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2680,228,0
chr2	219251787	rs45488900	G	T	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.516;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=10.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-0.415;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45488900;dbSNPBuildID=127;ANN=T|upstream_gene_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene||n.-1456G>T|||||1456|,T|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.*3228G>T|||||1450|,T|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.*1450G>T|||||1450|,T|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_006000.2|protein_coding|2/3|c.227-74C>A||||||,T|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_001278552.1|protein_coding|2/3|c.182-74C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=809;p3_1000G_AF=0.161542;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=20962;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220116509;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:150,0,420
chr2	219252322	rs45443991	A	G	580.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=6.084;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-2.221;SOR=1.949;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45443991;dbSNPBuildID=127;ANN=G|upstream_gene_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene||n.-921A>G|||||921|,G|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.*3763A>G|||||1985|,G|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.*1985A>G|||||1985|,G|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_006000.2|protein_coding|1/3|c.4-92T>C||||||,G|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_001278552.1|protein_coding|1/3|c.-42-92T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=260;p3_1000G_AF=0.0519169;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=18927;p3_1000G_EAS_AF=0.0883;p3_1000G_EUR_AF=0.0179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220117044;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,20:35:99:609,0,422
chr2	219252736	rs1024131	G	A	713.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.012;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.184;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.818;SOR=0.502;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1024131;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene||n.-507G>A|||||507|,A|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.*4177G>A|||||2399|,A|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.*2399G>A|||||2399|,A|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_006000.2|protein_coding|1/3|c.4-506C>T||||||,A|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_001278552.1|protein_coding|1/3|c.-42-506C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=808;p3_1000G_AF=0.161342;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=15291;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220117458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,28:46:99:742,0,414
chr2	219253368	rs370821428	T	G	129.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.584;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.19;ReadPosRankSum=1.24;SOR=0.77;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs370821428;dbSNPBuildID=138;ANN=G|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.*4809T>G|||||3031|,G|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.*3031T>G|||||3031|,G|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_006000.2|protein_coding|1/3|c.3+488A>C||||||,G|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_001278552.1|protein_coding|1/3|c.-43+727A>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|1/4|n.126T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=41;p3_1000G_AF=0.0081869;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=12492;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220118090;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,7:25:99:158,0,499
chr2	219253809	rs939574	G	C	140.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.046;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.674;SOR=1.535;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs939574;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.*5250G>C|||||3472|,C|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.*3472G>C|||||3472|,C|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_006000.2|protein_coding|1/3|c.3+47C>G||||||,C|intron_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|1/3|n.177+390G>C||||||,C|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_001278552.1|protein_coding|1/3|c.-43+286C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3699;p3_1000G_AF=0.738618;p3_1000G_AFR_AF=0.4107;p3_1000G_AMR_AF=0.8415;p3_1000G_AN=5008;p3_1000G_DP=14471;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.9056;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220118531;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8067;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2101,2241;ESP6500_AA_GTC=538,1025,608;ESP6500_CDS_SIZES=NM_006000.1:1347;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=19;ESP6500_EA_AC=7634,860;ESP6500_EA_GTC=3447,740,60;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006000.1:intron;ESP6500_GL=TUBA4A;ESP6500_GRCh38_POSITION=2:219253809;ESP6500_GTC=3985,1765,668;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_006000.1:c.3+47C>G;ESP6500_MAF=10.1248,48.3878,24.1586;ESP6500_TAC=9735,3101	GT:AD:DP:GQ:PL	0/1:7,7:14:99:169,0,185
chr2	219253950	rs61692384;rs796142770;~rs3051654	CG	C	93.37	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.366;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.47;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs61692384;dbSNPBuildID=137,146;ANN=C|upstream_gene_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_006000.2|protein_coding||c.-93delC|||||5|,C|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NM_001008910.2|protein_coding||c.*5392delG|||||3614|,C|downstream_gene_variant|MODIFIER|STK16|STK16|transcript|NR_026909.1|pseudogene||n.*3614delG|||||3614|,C|intron_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|1/3|n.177+541delG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TUBA4A|TUBA4A|transcript|NM_001278552.1|protein_coding|1/3|c.-43+144delC||||||;ESP6500_AA_AC=237,877,1290;ESP6500_AA_GTC=74,31,58,272,302,465;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=8;ESP6500_EA_AC=536,935,3239;ESP6500_EA_GTC=153,26,204,171,567,1234;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5,near-gene-5;ESP6500_GRCh38_POSITION=2:219253950;ESP6500_GTC=227,57,262,443,869,1699;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_MAF=31.2314,46.3394,36.3368;ESP6500_TAC=773,1812,4529	GT:AD:DP:GQ:PL	0/1:1,6:7:8:130,0,8
chr2	219271337	rs7580926	C	A	1287.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.114;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=6.269;MLEAC=1;MLEAF=0.5;MQ=59.2;MQRankSum=-2.558;QD=12.15;ReadPosRankSum=-1.694;SOR=0.312;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7580926;dbSNPBuildID=116;ANN=A|non_coding_transcript_exon_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|4/4|n.529C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=425;p3_1000G_AF=0.0848642;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=19191;p3_1000G_EAS_AF=0.0833;p3_1000G_EUR_AF=0.0179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220136059;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1316,0,1579
chr2	219271433	rs7594971	T	C	4767.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=148;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.18;QD=32.21;SOR=1.103;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7594971;dbSNPBuildID=116;ANN=C|non_coding_transcript_exon_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|4/4|n.625T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4943;p3_1000G_AF=0.987021;p3_1000G_AFR_AF=0.9523;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20900;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220136155;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,148:148:99:4796,444,0
chr2	219271517	rs3731891	C	T	1571.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.977;ClippingRankSum=0;DP=167;ExcessHet=3.0103;FS=4.613;MLEAC=1;MLEAF=0.5;MQ=54.7;MQRankSum=-0.822;QD=9.47;ReadPosRankSum=-0.258;SOR=1.04;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77762019;dbSNPBuildID=107;ANN=T|non_coding_transcript_exon_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|4/4|n.709C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=243;p3_1000G_AF=0.0485224;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs77762019;p3_1000G_DP=21960;p3_1000G_EAS_AF=0.0833;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220136239;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:99,67:166:99:1600,0,2837
chr2	219271629	rs3731892	G	A	5507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=139;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.85;QD=31.18;SOR=1.138;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731892;dbSNPBuildID=107;ANN=A|non_coding_transcript_exon_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|4/4|n.821G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2516;p3_1000G_AF=0.502396;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=20628;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220136351;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/0:0,78:78:99:5536,2440,2203
chr2	219271629	rs3731892	G	C	5507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=139;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.85;QD=31.18;SOR=1.138;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731892;dbSNPBuildID=107;ANN=C|non_coding_transcript_exon_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|4/4|n.821G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=425;p3_1000G_AF=0.0848642;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=20628;p3_1000G_EAS_AF=0.0833;p3_1000G_EUR_AF=0.0179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220136351;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:0,60:60:99:5536,3113,3023
chr2	219271638	rs56105486	C	T	2030.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.385;ClippingRankSum=0;DP=129;ExcessHet=3.0103;FS=3.273;MLEAC=1;MLEAF=0.5;MQ=59.84;MQRankSum=-1.136;QD=15.87;ReadPosRankSum=-0.187;SOR=0.448;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56105486;dbSNPBuildID=129;ANN=T|non_coding_transcript_exon_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|4/4|n.830C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=245;p3_1000G_AF=0.0489217;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=21014;p3_1000G_EAS_AF=0.0833;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220136360;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:73,55:128:99:0|1:219271638_C_T:2059,0,2925
chr2	219271649	rs3731894	T	C	5578.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=126;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.84;QD=33.91;SOR=0.92;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731894;dbSNPBuildID=107;ANN=C|non_coding_transcript_exon_variant|MODIFIER|TUBA4B|TUBA4B|transcript|NR_003063.1|pseudogene|4/4|n.841T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4394;p3_1000G_AF=0.877396;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=21399;p3_1000G_EAS_AF=0.9534;p3_1000G_EUR_AF=0.9205;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220136371;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,125:125:99:1|1:219271638_C_T:5607,379,0
chr2	219279688	rs908197	G	C	282.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.106;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.23;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs908197;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_006736.5|protein_coding|1/8|c.-36-110G>C||||||,C|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_001039550.1|protein_coding|1/9|c.-36-110G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1220;p3_1000G_AF=0.24361;p3_1000G_AFR_AF=0.4357;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=12212;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.168;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220144410;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,9:23:99:311,0,489
chr2	219280564	rs2276638;137118	C	T	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.785;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.961;SOR=1.674;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276638;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_006736.5|protein_coding|2/8|c.66-14C>T||||||,T|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_001039550.1|protein_coding|2/9|c.66-14C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1351;p3_1000G_AF=0.269768;p3_1000G_AFR_AF=0.5318;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=18093;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.168;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220145286;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2140,2266;ESP6500_AA_AGE=573.9+/-383.6;ESP6500_AA_GTC=526,1088,589;ESP6500_CDS_SIZES=NM_006736.5:975,NM_001039550.1:834;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=1482,7118;ESP6500_EA_AGE=279.7+/-294.1;ESP6500_EA_GTC=139,1204,2957;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006736.5:intron,NM_001039550.1:intron;ESP6500_GL=DNAJB2;ESP6500_GRCh38_POSITION=2:219280564;ESP6500_GTC=665,2292,3546;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006736.5:c.66-14C>T,NM_001039550.1:c.66-14C>T;ESP6500_MAF=17.2326,48.5701,27.8487;ESP6500_TAC=3622,9384;CLINVAR_AF_ESP=0.2785;CLINVAR_AF_EXAC=0.19799;CLINVAR_AF_TGP=0.2698;CLINVAR_ALLELEID=140821;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.219280564C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAJB2:3300;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2276638	GT:AD:DP:GQ:PL	0/1:7,17:24:99:438,0,154
chr2	219281680	rs3731896	C	T	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.932;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.565;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731896;dbSNPBuildID=107;ANN=T|sequence_feature|MODERATE|DNAJB2|DNAJB2|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_006736.5|protein_coding|3/8|c.176-38C>T||||||,T|sequence_feature|MODERATE|DNAJB2|DNAJB2|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_001039550.1|protein_coding|3/9|c.176-38C>T||||||,T|sequence_feature|LOW|DNAJB2|DNAJB2|helix:combinatorial_evidence_used_in_manual_assertion|NM_006736.5|protein_coding|3/8|c.176-38C>T||||||,T|sequence_feature|LOW|DNAJB2|DNAJB2|helix:combinatorial_evidence_used_in_manual_assertion|NM_001039550.1|protein_coding|3/9|c.176-38C>T||||||,T|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_006736.5|protein_coding|3/8|c.176-38C>T||||||,T|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_001039550.1|protein_coding|3/9|c.176-38C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1372;p3_1000G_AF=0.273962;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=20653;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.168;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220146402;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2219,2187;ESP6500_AA_AGE=589.8+/-387.2;ESP6500_AA_GTC=567,1085,551;ESP6500_CDS_SIZES=NM_006736.5:975,NM_001039550.1:834;ESP6500_CG=4.3;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=58;ESP6500_EA_AC=1485,7115;ESP6500_EA_AGE=280.6+/-294.6;ESP6500_EA_GTC=139,1207,2954;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006736.5:intron,NM_001039550.1:intron;ESP6500_GL=DNAJB2;ESP6500_GRCh38_POSITION=2:219281680;ESP6500_GTC=706,2292,3505;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006736.5:c.176-38C>T,NM_001039550.1:c.176-38C>T;ESP6500_MAF=17.2674,49.6369,28.4792;ESP6500_TAC=3704,9302	GT:AD:DP:GQ:PL	0/1:10,11:21:99:254,0,320
chr2	219281887	rs3832110;~rs3832110	C	CG	138.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.71;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=14.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.381;SOR=3.902;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3832110;dbSNPBuildID=132;ANN=CG|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_006736.5|protein_coding|4/8|c.230-51dupG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_001039550.1|protein_coding|4/9|c.230-51dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GG|G|GG|deletion;p3_1000G_AC=2609;p3_1000G_AF=0.520966;p3_1000G_AFR_AF=0.7542;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=18113;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.1928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220146609;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=INDEL;ESP6500_AA_AC=2908,1358;ESP6500_AA_GTC=1013,882,238;ESP6500_CDS_SIZES=NM_006736.5:975,NM_001039550.1:834;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=34;ESP6500_EA_AC=1545,6709;ESP6500_EA_GTC=156,1233,2738;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006736.5:intron,NM_001039550.1:intron;ESP6500_GL=DNAJB2;ESP6500_GRCh38_POSITION=2:219281887;ESP6500_GTC=1169,2115,2976;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_006736.5:c.230-52_230-51insG,NM_001039550.1:c.230-52_230-51insG;ESP6500_MAF=18.7182,31.8331,35.5671;ESP6500_TAC=4453,8067	GT:AD:DP:GQ:PL	0/1:10,6:16:99:176,0,326
chr2	219283045	rs3821038	C	T	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.071;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.32;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.973;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821038;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_006736.5|protein_coding|6/8|c.446-88C>T||||||,T|intron_variant|MODIFIER|DNAJB2|DNAJB2|transcript|NM_001039550.1|protein_coding|6/9|c.446-88C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=261;p3_1000G_AF=0.0521166;p3_1000G_AFR_AF=0.1127;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=17240;p3_1000G_EAS_AF=0.0833;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220147767;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,17:35:99:477,0,517
chr2	219283125	rs3821039;473303	G	A	640.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.495;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.76;SOR=0.581;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821039;dbSNPBuildID=107;ANN=A|splice_region_variant&intron_variant|LOW|DNAJB2|DNAJB2|transcript|NM_006736.5|protein_coding|6/8|c.446-8G>A||||||,A|splice_region_variant&intron_variant|LOW|DNAJB2|DNAJB2|transcript|NM_001039550.1|protein_coding|6/9|c.446-8G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=560;p3_1000G_AF=0.111821;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=18859;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220147847;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1166,3240;ESP6500_AA_AGE=410.4+/-335.4;ESP6500_AA_GTC=151,864,1188;ESP6500_CDS_SIZES=NM_006736.5:975,NM_001039550.1:834;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=84;ESP6500_EA_AC=152,8448;ESP6500_EA_AGE=72.6+/-135.2;ESP6500_EA_GTC=3,146,4151;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006736.5:intron,NM_001039550.1:intron;ESP6500_GL=DNAJB2;ESP6500_GRCh38_POSITION=2:219283125;ESP6500_GTC=154,1010,5339;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006736.5:c.446-8G>A,NM_001039550.1:c.446-8G>A;ESP6500_MAF=1.7674,26.4639,10.1338;ESP6500_TAC=1318,11688;CLINVAR_ALLELEID=450735;CLINVAR_CLNDISDB=MedGen:C3553989,OMIM:614881,Orphanet:ORPHA314485;CLINVAR_CLNDN=Spinal_muscular_atrophy,_distal,_autosomal_recessive,_5;CLINVAR_CLNHGVS=NC_000002.12:g.219283125G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DNAJB2:3300;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3821039	GT:AD:DP:GQ:PL	0/1:21,26:47:99:669,0,571
chr2	219295172	rs59726321	G	A	208.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.608;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.366;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59726321;dbSNPBuildID=129;ANN=A|upstream_gene_variant|MODIFIER|MIR153-1|MIR153-1|transcript|NR_029688.1|pseudogene||n.-972C>T|||||972|,A|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_002846.3|protein_coding|18/22|c.2509-31C>T||||||,A|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199764.1|protein_coding|18/22|c.2239-31C>T||||||,A|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199763.1|protein_coding|17/21|c.2422-31C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=228;p3_1000G_AF=0.0455272;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=13461;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.0159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220159894;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=338,4062;ESP6500_AA_GTC=14,310,1876;ESP6500_CDS_SIZES=NM_002846.3:2940,NM_001199764.1:2670,NM_001199763.1:2853;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=20;ESP6500_EA_AC=119,8473;ESP6500_EA_GTC=2,115,4179;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002846.3:intron,NM_001199764.1:intron,NM_001199763.1:intron;ESP6500_GL=PTPRN;ESP6500_GRCh38_POSITION=2:219295172;ESP6500_GTC=16,425,6055;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002846.3:c.2509-31C>T,NM_001199764.1:c.2239-31C>T,NM_001199763.1:c.2422-31C>T;ESP6500_MAF=1.385,7.6818,3.5175;ESP6500_TAC=457,12535	GT:AD:DP:GQ:PL	0/1:5,9:14:99:237,0,123
chr2	219296574	rs2292603	G	A	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.043;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=0.439;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292603;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|MIR153-1|MIR153-1|transcript|NR_029688.1|pseudogene||n.-2374C>T|||||2374|,A|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_002846.3|protein_coding|16/22|c.2311-58C>T||||||,A|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199764.1|protein_coding|16/22|c.2041-58C>T||||||,A|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199763.1|protein_coding|15/21|c.2224-58C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=320;p3_1000G_AF=0.0638978;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=19446;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.0209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220161296;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=123,1261;ESP6500_AA_GTC=7,109,576;ESP6500_CDS_SIZES=NM_002846.3:2940,NM_001199764.1:2670,NM_001199763.1:2853;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=33;ESP6500_EA_AC=38,3144;ESP6500_EA_GTC=0,38,1553;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002846.3:intron,NM_001199764.1:intron,NM_001199763.1:intron;ESP6500_GL=PTPRN;ESP6500_GRCh38_POSITION=2:219296574;ESP6500_GTC=7,147,2129;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002846.3:c.2311-58C>T,NM_001199764.1:c.2041-58C>T,NM_001199763.1:c.2224-58C>T;ESP6500_MAF=1.1942,8.8873,3.5261;ESP6500_TAC=161,4405	GT:AD:DP:GQ:PL	0/1:7,12:19:99:361,0,184
chr2	219297332	rs17847405	G	A	834.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.81;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=4.071;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.158;SOR=0.263;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17847405;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|PTPRN|PTPRN|transcript|NM_002846.3|protein_coding|14/23|c.1989C>T|p.Asp663Asp|2230/3784|1989/2940|663/979||,A|synonymous_variant|LOW|PTPRN|PTPRN|transcript|NM_001199764.1|protein_coding|14/23|c.1719C>T|p.Asp573Asp|2000/3554|1719/2670|573/889||,A|synonymous_variant|LOW|PTPRN|PTPRN|transcript|NM_001199763.1|protein_coding|13/22|c.1902C>T|p.Asp634Asp|2143/3697|1902/2853|634/950||,A|upstream_gene_variant|MODIFIER|MIR153-1|MIR153-1|transcript|NR_029688.1|pseudogene||n.-3132C>T|||||3132|;p3_1000G_AA=G|||;p3_1000G_AC=320;p3_1000G_AF=0.0638978;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=16504;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.0209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220162054;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=378,4028;ESP6500_AA_AGE=190.2+/-216.2;ESP6500_AA_GTC=20,338,1845;ESP6500_CDS_SIZES=NM_002846.3:2940,NM_001199764.1:2670,NM_001199763.1:2853;ESP6500_CG=-3.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=68;ESP6500_EA_AC=123,8477;ESP6500_EA_AGE=63.5+/-125.6;ESP6500_EA_GTC=0,123,4177;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002846.3:coding-synonymous,NM_001199764.1:coding-synonymous,NM_001199763.1:coding-synonymous;ESP6500_GL=PTPRN;ESP6500_GRCh38_POSITION=2:219297332;ESP6500_GTC=20,461,6022;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002846.3:c.1989C>T,NM_001199764.1:c.1719C>T,NM_001199763.1:c.1902C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002846.3:p.(D663),NM_001199764.1:p.(D573),NM_001199763.1:p.(D634);ESP6500_MAF=1.4302,8.5792,3.8521;ESP6500_TAC=501,12505	GT:AD:DP:GQ:PL	0/1:34,34:68:99:863,0,1093
chr2	219303894	rs2271594	C	T	491.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.889;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.33;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.577;SOR=0.236;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271594;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_002846.3|protein_coding|3/22|c.281-63G>A||||||,T|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199764.1|protein_coding|3/22|c.11-63G>A||||||,T|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199763.1|protein_coding|3/21|c.281-63G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2196;p3_1000G_AF=0.438498;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=19963;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.2614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220168616;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4346;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,18:39:99:520,0,636
chr2	219307854	rs7591986	A	C	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=1.4;SOR=1.492;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7591986;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_002846.3|protein_coding|1/22|c.116-12T>G||||||,C|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199764.1|protein_coding|1/22|c.-155-12T>G||||||,C|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199763.1|protein_coding|1/21|c.116-12T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1070;p3_1000G_AF=0.213658;p3_1000G_AFR_AF=0.4191;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=18407;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.1103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220172576;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1675,2731;ESP6500_AA_AGE=655.2+/-399.9;ESP6500_AA_GTC=328,1019,856;ESP6500_CDS_SIZES=NM_002846.3:2940,NM_001199764.1:2670,NM_001199763.1:2853;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=80;ESP6500_EA_AC=1034,7566;ESP6500_EA_AGE=770.6+/-407.7;ESP6500_EA_GTC=66,902,3332;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002846.3:intron,NM_001199764.1:intron,NM_001199763.1:intron;ESP6500_GL=PTPRN;ESP6500_GRCh38_POSITION=2:219307854;ESP6500_GTC=394,1921,4188;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002846.3:c.116-12T>G,NM_001199764.1:c.-401T>G,NM_001199763.1:c.116-12T>G;ESP6500_MAF=12.0233,38.0163,20.8288;ESP6500_TAC=2709,10297	GT:AD:DP:GQ:PL	0/1:13,7:20:99:170,0,303
chr2	219309183	rs57623838	C	T	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.318;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=8.774;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.294;SOR=0.08;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57623838;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199764.1|protein_coding||c.-1730G>A|||||176|,T|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_002846.3|protein_coding|1/22|c.115+35G>A||||||,T|intron_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199763.1|protein_coding|1/21|c.115+35G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=692;p3_1000G_AF=0.138179;p3_1000G_AFR_AF=0.149;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=8802;p3_1000G_EAS_AF=0.124;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220173905;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=485,3131;ESP6500_AA_GTC=33,419,1356;ESP6500_CDS_SIZES=NM_002846.3:2940,NM_001199763.1:2853;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=3;ESP6500_EA_AC=801,6645;ESP6500_EA_GTC=54,693,2976;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002846.3:intron,NM_001199763.1:intron;ESP6500_GL=PTPRN;ESP6500_GRCh38_POSITION=2:219309183;ESP6500_GTC=87,1112,4332;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002846.3:c.115+35G>A,NM_001199763.1:c.115+35G>A;ESP6500_MAF=10.7575,13.4126,11.6254;ESP6500_TAC=1286,9776	GT:AD:DP:GQ:PL	0/1:16,20:36:99:460,0,443
chr2	219309334	rs6736979	T	C	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.253;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6736979;dbSNPBuildID=116;ANN=C|5_prime_UTR_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_002846.3|protein_coding|1/23|c.-2A>G|||||2|,C|5_prime_UTR_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199763.1|protein_coding|1/22|c.-2A>G|||||2|,C|upstream_gene_variant|MODIFIER|PTPRN|PTPRN|transcript|NM_001199764.1|protein_coding||c.-1881A>G|||||327|;p3_1000G_AA=C|||;p3_1000G_AC=1070;p3_1000G_AF=0.213658;p3_1000G_AFR_AF=0.4191;p3_1000G_AMR_AF=0.1182;p3_1000G_AN=5008;p3_1000G_DP=8262;p3_1000G_EAS_AF=0.125;p3_1000G_EUR_AF=0.1103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220174056;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=508,1858;ESP6500_AA_GTC=19,470,694;ESP6500_CDS_SIZES=NM_002846.3:2940,NM_001199763.1:2853;ESP6500_CG=2.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=2;ESP6500_EA_AC=439,5031;ESP6500_EA_GTC=11,417,2307;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002846.3:utr-5,NM_001199763.1:utr-5;ESP6500_GL=PTPRN;ESP6500_GRCh38_POSITION=2:219309334;ESP6500_GTC=30,887,3001;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002846.3:c.-2A>G,NM_001199763.1:c.-2A>G;ESP6500_MAF=8.0256,21.4708,12.0852;ESP6500_TAC=947,6889	GT:AD:DP:GQ:PL	0/1:2,4:6:63:113,0,63
chr2	219329195	rs3731895	C	T	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.615;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.087;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731895;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|5/7|c.523G>A|p.Ala175Thr|523/795|523/687|175/228||;p3_1000G_AA=C|||;p3_1000G_AC=292;p3_1000G_AF=0.0583067;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=17886;p3_1000G_EAS_AF=0.0863;p3_1000G_EUR_AF=0.0139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220193917;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0562;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=126,1258;ESP6500_AA_GTC=7,112,573;ESP6500_CDS_SIZES=NM_001007089.3:687;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=34,3148;ESP6500_EA_GTC=0,34,1557;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001007089.3:missense;ESP6500_GL=RESP18;ESP6500_GRCh38_POSITION=2:219329195;ESP6500_GS=58;ESP6500_GTC=7,146,2130;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001007089.3:c.523G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001007089.3:p.(A175T);ESP6500_MAF=1.0685,9.104,3.5042;ESP6500_PH=benign:0.002;ESP6500_TAC=160,4406	GT:AD:DP:GQ:PL	0/1:14,14:28:99:359,0,333
chr2	219329525	rs3832109;rs397959261	A	AATT	385.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.805;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-0.058;SOR=0.76;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3832109;dbSNPBuildID=107,138;ANN=AATT|intron_variant|MODIFIER|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|4/6|c.465+109_465+111dupAAT||||||;p3_1000G_AC=2360;p3_1000G_AF=0.471246;p3_1000G_AFR_AF=0.9402;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=22640;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220194247;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,11:24:99:423,0,608
chr2	219330724	rs6707009	C	G	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.69;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.993;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.642;SOR=0.102;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6707009;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|3/6|c.337+47G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2360;p3_1000G_AF=0.471246;p3_1000G_AFR_AF=0.9387;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=16865;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220195446;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1153,231;ESP6500_AA_GTC=486,181,25;ESP6500_CDS_SIZES=NM_001007089.3:687;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=874,2308;ESP6500_EA_GTC=123,628,840;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001007089.3:intron;ESP6500_GL=RESP18;ESP6500_GRCh38_POSITION=2:219330724;ESP6500_GTC=609,809,865;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001007089.3:c.337+47G>C;ESP6500_MAF=27.467,16.6908,44.3933;ESP6500_TAC=2027,2539	GT:AD:DP:GQ:PL	0/1:11,12:23:99:350,0,346
chr2	219332485	rs2048737	T	C	419.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.886;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=7.503;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.574;SOR=0.783;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2048737;dbSNPBuildID=94;ANN=C|intron_variant|MODIFIER|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|2/6|c.232+39A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2351;p3_1000G_AF=0.469449;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=15324;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220197207;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1095,277;ESP6500_AA_GTC=460,175,51;ESP6500_CDS_SIZES=NM_001007089.3:687;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=7;ESP6500_EA_AC=840,2300;ESP6500_EA_GTC=143,554,873;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001007089.3:intron;ESP6500_GL=RESP18;ESP6500_GRCh38_POSITION=2:219332485;ESP6500_GTC=603,729,924;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001007089.3:c.232+39A>G;ESP6500_MAF=26.7516,20.1895,42.8856;ESP6500_TAC=1935,2577	GT:AD:DP:GQ:PL	0/1:15,17:32:99:448,0,355
chr2	219332599	rs2385405	C	T	505.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.768;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.29;SOR=0.576;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2385405;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|2/7|c.157G>A|p.Glu53Lys|157/795|157/687|53/228||;p3_1000G_AA=C|||;p3_1000G_AC=2321;p3_1000G_AF=0.463458;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=13722;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.2763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220197321;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1095,289;ESP6500_AA_GTC=445,205,42;ESP6500_CDS_SIZES=NM_001007089.3:687;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=18;ESP6500_EA_AC=867,2297;ESP6500_EA_GTC=126,615,841;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001007089.3:missense;ESP6500_GL=RESP18;ESP6500_GRCh38_POSITION=2:219332599;ESP6500_GS=56;ESP6500_GTC=571,820,883;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001007089.3:c.157G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001007089.3:p.(E53K);ESP6500_MAF=27.402,20.8815,43.1398;ESP6500_PH=benign:0.0;ESP6500_TAC=1962,2586	GT:AD:DP:GQ:PL	0/1:25,23:48:99:534,0,704
chr2	219332666	rs2385404	C	A	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.664;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=2.022;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=-0.557;SOR=0.478;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2385404;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|2/7|c.90G>T|p.Glu30Asp|90/795|90/687|30/228||;p3_1000G_AA=C|||;p3_1000G_AC=2352;p3_1000G_AF=0.469649;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=14033;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220197388;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1131,245;ESP6500_AA_GTC=474,183,31;ESP6500_CDS_SIZES=NM_001007089.3:687;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=853,2321;ESP6500_EA_GTC=127,599,861;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001007089.3:missense;ESP6500_GL=RESP18;ESP6500_GRCh38_POSITION=2:219332666;ESP6500_GS=45;ESP6500_GTC=601,782,892;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001007089.3:c.90G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001007089.3:p.(E30D);ESP6500_MAF=26.8746,17.8052,43.6044;ESP6500_PH=possibly-damaging:0.557;ESP6500_TAC=1984,2566	GT:AD:DP:GQ:PL	0/1:45,26:71:99:543,0,1201
chr2	219332770	rs2385402	C	G	669.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=1.983;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=0.027;SOR=0.472;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2385402;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|1/6|c.18-32G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2351;p3_1000G_AF=0.469449;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=11737;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220197492;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:49,28:77:99:698,0,1322
chr2	219332950	rs2385401	A	G	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.184;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=0;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2385401;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|1/6|c.17+211T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2352;p3_1000G_AF=0.469649;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=12049;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220197672;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:88:219,0,88
chr2	219333008	rs2385400	G	C	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=-0.712;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2385400;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|RESP18|RESP18|transcript|NM_001007089.3|protein_coding|1/6|c.17+153C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2355;p3_1000G_AF=0.470248;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=12265;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.2773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220197730;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:28:155,0,28
chr2	219333207	rs753163725;rs761420342	CTT	C	441.27	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.797;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.51;ReadPosRankSum=0.474;SOR=0.502;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144,144;ANN=C|upstream_gene_variant|MODIFIER|RESP18|RESP18|transcript|NM_001007089.3|protein_coding||c.-32_-31delAA|||||31|,C|intergenic_region|MODIFIER|RESP18-DNPEP|RESP18-DNPEP|intergenic_region|RESP18-DNPEP|||n.219333208_219333209delTT||||||	GT:AD:DP:GQ:PL	0/1:5,13:18:74:476,0,74
chr2	219374812	rs3731904	G	A	504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.65;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731904;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|14/14|c.1431+43C>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|14/14|c.1365+43C>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|14/14|c.1365+43C>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|13/13|c.1299+43C>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|14/14|c.1248+43C>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|14/14|c.1407+43C>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|12/12|n.1369+43C>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|13/13|c.1323+43C>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|15/15|c.1248+43C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3823;p3_1000G_AF=0.763379;p3_1000G_AFR_AF=0.6044;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=18792;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.8887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220239534;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2607,1395;ESP6500_AA_GTC=862,883,256;ESP6500_CDS_SIZES=NM_012100.2:1458;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=19;ESP6500_EA_AC=7249,1087;ESP6500_EA_GTC=3163,923,82;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012100.2:intron;ESP6500_GL=DNPEP;ESP6500_GRCh38_POSITION=2:219374812;ESP6500_GTC=4025,1806,338;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012100.2:c.1407+43C>T;ESP6500_MAF=13.0398,34.8576,20.1167;ESP6500_TAC=9856,2482	GT:AD:DP:GQ:PL	1/1:0,15:15:45:533,45,0
chr2	219374839	rs3731905	C	G	742.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731905;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|14/14|c.1431+16G>C||||||,G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|14/14|c.1365+16G>C||||||,G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|14/14|c.1365+16G>C||||||,G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|13/13|c.1299+16G>C||||||,G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|14/14|c.1248+16G>C||||||,G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|14/14|c.1407+16G>C||||||,G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|12/12|n.1369+16G>C||||||,G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|13/13|c.1323+16G>C||||||,G|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|15/15|c.1248+16G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3809;p3_1000G_AF=0.760583;p3_1000G_AFR_AF=0.6044;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=18300;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.8887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220239561;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2604,1392;ESP6500_AA_GTC=858,888,252;ESP6500_CDS_SIZES=NM_012100.2:1458;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=25;ESP6500_EA_AC=7247,1073;ESP6500_EA_GTC=3159,929,72;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012100.2:intron;ESP6500_GL=DNPEP;ESP6500_GRCh38_POSITION=2:219374839;ESP6500_GTC=4017,1817,324;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_012100.2:c.1407+16G>C;ESP6500_MAF=12.8966,34.8348,20.0146;ESP6500_TAC=9851,2465	GT:AD:DP:GQ:PL	1/1:0,18:18:54:771,54,0
chr2	219381496	rs6436148	T	C	2134.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.46;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436148;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|12/14|c.1161+49A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|12/14|c.1095+49A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|12/14|c.1095+49A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|11/13|c.1029+49A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|12/14|c.978+49A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|12/14|c.1137+49A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|10/12|n.1099+49A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|11/13|c.1053+49A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|13/15|c.978+49A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4546;p3_1000G_AF=0.907748;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=18606;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220246218;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3112,846;ESP6500_AA_GTC=1221,670,88;ESP6500_CDS_SIZES=NM_012100.2:1458;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=141;ESP6500_EA_AC=8282,20;ESP6500_EA_GTC=4131,20,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012100.2:intron;ESP6500_GL=DNPEP;ESP6500_GRCh38_POSITION=2:219381496;ESP6500_GTC=5352,690,88;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012100.2:c.1137+49A>G;ESP6500_MAF=0.2409,21.3744,7.0636;ESP6500_TAC=11394,866	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2163,225,0
chr2	219384577	rs5838737	C	CT	339.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.13;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5838737;dbSNPBuildID=130;ANN=CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|8/14|c.799-135dupA||||||,CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|8/14|c.733-135dupA||||||,CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|8/14|c.733-135dupA||||||,CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|7/13|c.667-135dupA||||||,CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|8/14|c.616-135dupA||||||,CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|8/14|c.775-135dupA||||||,CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|6/12|n.737-135dupA||||||,CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|7/13|c.691-135dupA||||||,CT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|9/15|c.616-135dupA||||||	GT:AD:DP:GQ:PL	1/1:0,13:13:39:377,39,0
chr2	219385600	rs878437	C	A	1121.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs878437;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|7/14|c.690+31G>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|7/14|c.624+31G>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|7/14|c.624+31G>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|7/13|c.666+31G>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|7/14|c.507+31G>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|7/14|c.666+31G>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|6/12|n.736+368G>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|7/13|c.690+31G>T||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|8/15|c.507+31G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4363;p3_1000G_AF=0.871206;p3_1000G_AFR_AF=0.612;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=19737;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.9871;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220250322;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2768,1210;ESP6500_AA_GTC=956,856,177;ESP6500_CDS_SIZES=NM_012100.2:1458;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=36;ESP6500_EA_AC=8184,108;ESP6500_EA_GTC=4038,108,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012100.2:intron;ESP6500_GL=DNPEP;ESP6500_GRCh38_POSITION=2:219385600;ESP6500_GTC=4994,964,177;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_012100.2:c.666+31G>T;ESP6500_MAF=1.3025,30.4173,10.7416;ESP6500_TAC=10952,1318	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,34:34:99:1|1:219385591_G_T:1150,102,0
chr2	219386104	rs2271456	G	A	1117.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.21;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271456;dbSNPBuildID=100;ANN=A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|5/14|c.484-6C>T||||||,A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|5/14|c.418-6C>T||||||,A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|5/14|c.418-6C>T||||||,A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|5/13|c.460-6C>T||||||,A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|5/14|c.301-6C>T||||||,A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|5/14|c.460-6C>T||||||,A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|5/12|n.606-6C>T||||||,A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|5/13|c.484-6C>T||||||,A|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|6/15|c.301-6C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4222;p3_1000G_AF=0.843051;p3_1000G_AFR_AF=0.5129;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=19832;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.9861;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220250826;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2588,1680;ESP6500_AA_GTC=777,1034,323;ESP6500_CDS_SIZES=NM_012100.2:1458;ESP6500_CG=2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=8391,125;ESP6500_EA_GTC=4133,125,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012100.2:intron;ESP6500_GL=DNPEP;ESP6500_GRCh38_POSITION=2:219386104;ESP6500_GTC=4910,1159,323;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012100.2:c.460-6C>T;ESP6500_MAF=1.4678,39.3627,14.1192;ESP6500_TAC=10979,1805	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1146,111,0
chr2	219386175	rs11352428;rs796431130	AG	A	986.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.03;SOR=0.906;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11352428;dbSNPBuildID=130,146;ANN=A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|5/14|c.484-78delC||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|5/14|c.418-78delC||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|5/14|c.418-78delC||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|5/13|c.460-78delC||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|5/14|c.301-78delC||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|5/14|c.460-78delC||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|5/12|n.606-78delC||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|5/13|c.484-78delC||||||,A|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|6/15|c.301-78delC||||||;p3_1000G_AA=GGG|GGG|GG|deletion;p3_1000G_AC=4598;p3_1000G_AF=0.918131;p3_1000G_AFR_AF=0.7163;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=19439;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9911;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220250897;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9928;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1024,87,0
chr2	219386451	rs371612060	C	T	817.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.65;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.079;SOR=0.619;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371612060;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|4/14|c.358-40G>A||||||,T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|4/14|c.292-40G>A||||||,T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|4/14|c.292-40G>A||||||,T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|4/13|c.334-40G>A||||||,T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|4/14|c.175-40G>A||||||,T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|4/14|c.334-40G>A||||||,T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|4/12|n.480-40G>A||||||,T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|4/13|c.358-40G>A||||||,T|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|5/15|c.175-40G>A||||||;ESP6500_AA=C;ESP6500_AA_AC=0,4134;ESP6500_AA_GTC=0,0,2067;ESP6500_CDS_SIZES=NM_012100.2:1458;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_138;ESP6500_DP=57;ESP6500_EA_AC=1,8461;ESP6500_EA_GTC=0,1,4230;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012100.2:intron;ESP6500_GL=DNPEP;ESP6500_GRCh38_POSITION=2:219386451;ESP6500_GTC=0,1,6297;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012100.2:c.334-40G>A;ESP6500_MAF=0.0118,0.0,0.0079;ESP6500_TAC=1,12595	GT:AD:DP:GQ:PL	0/1:38,36:74:99:846,0,953
chr2	219386456	rs2271457	T	C	2589.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=1.785;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271457;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|4/14|c.358-45A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|4/14|c.292-45A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|4/14|c.292-45A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|4/13|c.334-45A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|4/14|c.175-45A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|4/14|c.334-45A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|4/12|n.480-45A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|4/13|c.358-45A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|5/15|c.175-45A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4393;p3_1000G_AF=0.877196;p3_1000G_AFR_AF=0.6339;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=23948;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.9871;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220251178;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2947,1171;ESP6500_AA_GTC=1052,843,164;ESP6500_CDS_SIZES=NM_012100.2:1458;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=8345,111;ESP6500_EA_GTC=4117,111,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012100.2:intron;ESP6500_GL=DNPEP;ESP6500_GRCh38_POSITION=2:219386456;ESP6500_GTC=5169,954,164;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_012100.2:c.334-45A>G;ESP6500_MAF=1.3127,28.4361,10.1956;ESP6500_TAC=11292,1282	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2618,210,0
chr2	219386486	rs1040009	T	C	792.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.8;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.105;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.225;SOR=0.509;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1040009;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|4/14|c.358-75A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding|4/14|c.292-75A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|4/14|c.292-75A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|4/13|c.334-75A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|4/14|c.175-75A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|4/14|c.334-75A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|4/12|n.480-75A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|4/13|c.358-75A>G||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|5/15|c.175-75A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2541;p3_1000G_AF=0.507388;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.647;p3_1000G_AN=5008;p3_1000G_DP=23641;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.6392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220251208;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,27:55:99:821,0,717
chr2	219387565	rs138394024	CTCG	C	318.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.27;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs138394024;dbSNPBuildID=134;ANN=C|splice_region_variant&intron_variant|LOW|DNPEP|DNPEP|transcript|NM_001319119.1|protein_coding|1/14|c.-7+8_-7+10delCGA||||||,C|upstream_gene_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319118.1|protein_coding||c.-411_-409delCGA|||||204|,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|1/14|c.61-405_61-403delCGA||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319120.1|protein_coding|1/13|c.36+191_36+193delCGA||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319122.1|protein_coding|1/14|c.-92+191_-92+193delCGA||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_012100.3|protein_coding|1/14|c.36+191_36+193delCGA||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NR_134970.1|pseudogene|1/12|n.182+191_182+193delCGA||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|1/13|c.61-405_61-403delCGA||||||,C|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319121.1|protein_coding|2/15|c.-91-405_-91-403delCGA||||||;p3_1000G_AC=4397;p3_1000G_AF=0.877995;p3_1000G_AFR_AF=0.6354;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=11207;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.9871;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220252287;p3_1000G_GRCH37_REF=CTCG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9806;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,8:8:24:356,24,0
chr2	219399821	rs58721028	C	CAT	1888.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.69;SOR=1.259;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs58721028;dbSNPBuildID=129;ANN=CAT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319116.1|protein_coding|1/14|c.60+44_60+45insAT||||||,CAT|intron_variant|MODIFIER|DNPEP|DNPEP|transcript|NM_001319117.1|protein_coding|1/13|c.60+44_60+45insAT||||||;p3_1000G_AC=4910;p3_1000G_AF=0.980431;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19807;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220264543;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1926,129,0
chr2	219418537	rs1318299;36002	A	G	1331.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.48;SOR=0.741;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1318299;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|DES|DES|transcript|NM_001927.3|protein_coding|1/9|c.75A>G|p.Pro25Pro|161/2248|75/1413|25/470||;p3_1000G_AA=G|||;p3_1000G_AC=4438;p3_1000G_AF=0.886182;p3_1000G_AFR_AF=0.615;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=10488;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9901;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220283259;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2679,1053;ESP6500_AA_GTC=940,799,127;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...1674&amp%3Brs...1318299;ESP6500_CDS_SIZES=NM_001927.3:1413;ESP6500_CG=0.8;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=9;ESP6500_EA_AC=7309,91;ESP6500_EA_GTC=3611,87,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001927.3:coding-synonymous;ESP6500_GL=DES;ESP6500_GRCh38_POSITION=2:219418537;ESP6500_GTC=4551,886,129;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001927.3:c.75A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001927.3:p.(P25);ESP6500_MAF=1.2297,28.2154,10.2767;ESP6500_TAC=9988,1144;CLINVAR_ALLELEID=44666;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLINVAR_CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLINVAR_CLNHGVS=NC_000002.12:g.219418537A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27988;CLINVAR_GENEINFO=DES:1674;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1318299	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1360,123,0
chr2	219418555	rs2017800;36003	T	C	1481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.46;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2017800;dbSNPBuildID=92;ANN=C|sequence_feature|MODERATE|DES|DES|modified-residue:Phosphoserine|NM_001927.3|protein_coding|1/9|c.93T>C||||||,C|synonymous_variant|LOW|DES|DES|transcript|NM_001927.3|protein_coding|1/9|c.93T>C|p.Ser31Ser|179/2248|93/1413|31/470||;p3_1000G_AA=C|||;p3_1000G_AC=4337;p3_1000G_AF=0.866014;p3_1000G_AFR_AF=0.5431;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=10522;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9901;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220283277;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2646,1308;ESP6500_AA_GTC=857,932,188;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...1674&amp%3Brs...2017800;ESP6500_CDS_SIZES=NM_001927.3:1413;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=8;ESP6500_EA_AC=7562,92;ESP6500_EA_GTC=3736,90,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001927.3:coding-synonymous;ESP6500_GL=DES;ESP6500_GRCh38_POSITION=2:219418555;ESP6500_GTC=4593,1022,189;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001927.3:c.93T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001927.3:p.(S31);ESP6500_MAF=1.202,33.0804,12.0606;ESP6500_TAC=10208,1400;CLINVAR_ALLELEID=44667;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446;CLINVAR_CLNDN=Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLINVAR_CLNHGVS=NC_000002.12:g.219418555T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:27998;CLINVAR_GENEINFO=DES:1674;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2017800	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1510,129,0
chr2	219418715	.	G	T	1268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.778;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.5;ReadPosRankSum=0.413;SOR=0.627;SNP;HET;VARTYPE=SNP;ANN=T|missense_variant|MODERATE|DES|DES|transcript|NM_001927.3|protein_coding|1/9|c.253G>T|p.Ala85Ser|339/2248|253/1413|85/470||	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,33:59:99:0|1:219418715_G_T:1297,0,1628
chr2	219418716	.	C	T	1268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.536;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0.998;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.5;ReadPosRankSum=0.445;SOR=0.627;SNP;HET;VARTYPE=SNP;ANN=T|missense_variant|MODERATE|DES|DES|transcript|NM_001927.3|protein_coding|1/9|c.254C>T|p.Ala85Val|340/2248|254/1413|85/470||	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,33:59:99:0|1:219418715_G_T:1297,0,1628
chr2	219419104	rs907677	T	G	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs907677;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|DES|DES|transcript|NM_001927.3|protein_coding|1/8|c.578+64T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=12715;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220283826;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:495,45,0
chr2	219420057	rs12991025;258491	C	T	411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12991025;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|DES|DES|transcript|NM_001927.3|protein_coding|1/8|c.579-38C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2651;p3_1000G_AF=0.529353;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=15923;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220284779;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=817,3589;ESP6500_AA_AGE=328.0+/-300.3;ESP6500_AA_GTC=88,641,1474;ESP6500_CDS_SIZES=NM_001927.3:1413;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=62;ESP6500_EA_AC=5421,3179;ESP6500_EA_AGE=653.7+/-401.1;ESP6500_EA_GTC=1733,1955,612;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001927.3:intron;ESP6500_GL=DES;ESP6500_GRCh38_POSITION=2:219420057;ESP6500_GTC=1821,2596,2086;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001927.3:c.579-38C>T;ESP6500_MAF=36.9651,18.5429,47.9625;ESP6500_TAC=6238,6768;CLINVAR_AF_ESP=0.4796;CLINVAR_ALLELEID=250577;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.219420057C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=DES:1674;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12991025	GT:AD:DP:GQ:PL	1/1:0,13:13:39:440,39,0
chr2	219441691	rs4674398	G	T	302.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.52;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4674398;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|1/40|c.389-2962G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4318;p3_1000G_AF=0.86222;p3_1000G_AFR_AF=0.6619;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=11824;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.9533;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220306413;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:331,33,0
chr2	219443859	rs10932805	A	C	817.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932805;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|1/40|c.389-794A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4625;p3_1000G_AF=0.923522;p3_1000G_AFR_AF=0.8124;p3_1000G_AMR_AF=0.9366;p3_1000G_AN=5008;p3_1000G_DP=15674;p3_1000G_EAS_AF=0.9613;p3_1000G_EUR_AF=0.9861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220308581;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:846,66,0
chr2	219451248	rs10932806	G	A	718.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.25;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932806;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|SPEG|SPEG|transcript|NM_005876.4|protein_coding|5/41|c.2226G>A|p.Lys742Lys|2226/10650|2226/9804|742/3267||;p3_1000G_AA=G|||;p3_1000G_AC=2165;p3_1000G_AF=0.432308;p3_1000G_AFR_AF=0.1392;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=16324;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.5119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220315970;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4581;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=781,3281;ESP6500_AA_GTC=94,593,1344;ESP6500_CDS_SIZES=NM_005876.4:9804;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=4290,4032;ESP6500_EA_GTC=1099,2092,970;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005876.4:coding-synonymous;ESP6500_GL=SPEG;ESP6500_GRCh38_POSITION=2:219451248;ESP6500_GTC=1193,2685,2314;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005876.4:c.2226G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005876.4:p.(K742);ESP6500_MAF=48.4499,19.227,40.948;ESP6500_TAC=5071,7313	GT:AD:DP:GQ:PL	1/1:0,23:23:69:747,69,0
chr2	219451857	rs4674399	C	T	269.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.98;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4674399;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|6/40|c.2440+50C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4783;p3_1000G_AF=0.955072;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=15418;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220316579;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9959;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2959,197;ESP6500_AA_GTC=1382,195,1;ESP6500_CDS_SIZES=NM_005876.4:9804;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=2;ESP6500_EA_AC=6653,5;ESP6500_EA_GTC=3324,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005876.4:intron;ESP6500_GL=SPEG;ESP6500_GRCh38_POSITION=2:219451857;ESP6500_GTC=4706,200,1;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005876.4:c.2440+50C>T;ESP6500_MAF=0.0751,6.2421,2.0583;ESP6500_TAC=9612,202	GT:AD:DP:GQ:PL	1/1:0,10:10:30:298,30,0
chr2	219465924	rs1976618	C	T	1757.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.69;SOR=2.476;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1976618;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|9/40|c.2882-1250C>T||||||,T|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_001173476.1|protein_coding|4/4|c.335-133C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4451;p3_1000G_AF=0.888778;p3_1000G_AFR_AF=0.7042;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=16737;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.9722;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220330646;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,41:41:99:1|1:219465924_C_T:1786,123,0
chr2	219465939	rs1976617;rs530065772	A	G	2043.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.13;SOR=1.958;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1976617;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|9/40|c.2882-1235A>G||||||,G|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_001173476.1|protein_coding|4/4|c.335-118A>G||||||;p3_1000G_AC=3846;p3_1000G_AF=0.767971;p3_1000G_AFR_AF=0.7141;p3_1000G_AMR_AF=0.768;p3_1000G_AN=5008;p3_1000G_DP=16117;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220330661;p3_1000G_GRCH37_REF=ACG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,50:50:99:1|1:219465924_C_T:2072,150,0
chr2	219466002	rs1567488	C	T	1970.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=0.787;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1567488;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|9/40|c.2882-1172C>T||||||,T|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_001173476.1|protein_coding|4/4|c.335-55C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2100;p3_1000G_AF=0.419329;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=16572;p3_1000G_EAS_AF=0.6736;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220330724;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1999,194,0
chr2	219466082	rs1567487	T	C	2101.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=1.751;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1567487;dbSNPBuildID=88;ANN=C|3_prime_UTR_variant|MODIFIER|SPEG|SPEG|transcript|NM_001173476.1|protein_coding|5/5|c.*18T>C|||||18|,C|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|9/40|c.2882-1092T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2302;p3_1000G_AF=0.459665;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=12472;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220330804;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=403,1339;ESP6500_AA_GTC=55,293,523;ESP6500_CDS_SIZES=NM_005876.4:9804,NM_001173476.1:342;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=15;ESP6500_EA_AC=1995,1955;ESP6500_EA_GTC=502,991,482;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005876.4:intron,NM_001173476.1:utr-3;ESP6500_GL=SPEG;ESP6500_GRCh38_POSITION=2:219466082;ESP6500_GTC=557,1284,1005;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005876.4:c.2882-1092T>C,NM_001173476.1:c.*18T>C;ESP6500_MAF=49.4937,23.1343,42.1293;ESP6500_TAC=2398,3294	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2130,204,0
chr2	219469228	rs10167209	T	C	1665.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10167209;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|SPEG|SPEG|transcript|NM_005876.4|protein_coding|13/41|c.3564T>C|p.Pro1188Pro|3564/10650|3564/9804|1188/3267||,C|sequence_feature|LOW|SPEG|SPEG|domain:Ig-like_6|NM_005876.4|protein_coding|13/41|c.3564T>C||||||,C|downstream_gene_variant|MODIFIER|SPEG|SPEG|transcript|NM_001173476.1|protein_coding||c.*3164T>C|||||2366|;p3_1000G_AA=t|||;p3_1000G_AC=4927;p3_1000G_AF=0.983826;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=16665;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220333950;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4114,206;ESP6500_AA_GTC=1961,192,7;ESP6500_CDS_SIZES=NM_005876.4:9804;ESP6500_CG=-9.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=38;ESP6500_EA_AC=8535,1;ESP6500_EA_GTC=4267,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005876.4:coding-synonymous;ESP6500_GL=SPEG;ESP6500_GRCh38_POSITION=2:219469228;ESP6500_GTC=6228,193,7;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005876.4:c.3564T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005876.4:p.(P1188);ESP6500_MAF=0.0117,4.7685,1.6101;ESP6500_TAC=12649,207	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1694,165,0
chr2	219472474	rs1039897	G	A	388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1039897;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|15/40|c.3940+143G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2527;p3_1000G_AF=0.504593;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=18330;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.6491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220337196;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:417,36,0
chr2	219477213	rs201853159	A	AG	727.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.99;SOR=3.383;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs201853159;dbSNPBuildID=137;ANN=AG|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|19/40|c.4561-62dupG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:219477213_A_AG:765,51,0
chr2	219477216	rs376344559	C	CGGGGCCTGGTACAGCGGCT	1002.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.83;SOR=3.5;INS;HOM;VARTYPE=INS;dbSNPBuildID=138;ANN=CGGGGCCTGGTACAGCGGCT|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|19/40|c.4561-61_4561-60insGGGGCCTGGTACAGCGGCT||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:72:1|1:219477213_A_AG:1040,72,0
chr2	219488382	rs875097	A	G	924.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs875097;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|32/40|c.7858+72A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2492;p3_1000G_AF=0.497604;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=18382;p3_1000G_EAS_AF=0.7679;p3_1000G_EUR_AF=0.6789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220353104;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:953,75,0
chr2	219492084	rs907146	C	T	1328.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.9;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs907146;dbSNPBuildID=86;ANN=T|upstream_gene_variant|MODIFIER|LOC100996693|LOC100996693|transcript|NM_001286811.1|protein_coding||c.-4271C>T|||||4271|,T|intron_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding|39/40|c.9462-27C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4818;p3_1000G_AF=0.962061;p3_1000G_AFR_AF=0.8654;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=17919;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220356806;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3752,444;ESP6500_AA_GTC=1681,390,27;ESP6500_CDS_SIZES=NM_005876.4:9804;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=39;ESP6500_EA_AC=8381,5;ESP6500_EA_GTC=4188,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005876.4:intron;ESP6500_GL=SPEG;ESP6500_GRCh38_POSITION=2:219492084;ESP6500_GTC=5869,395,27;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005876.4:c.9462-27C>T;ESP6500_MAF=0.0596,10.5815,3.5686;ESP6500_TAC=12133,449	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1357,129,0
chr2	219496543	rs2385541	A	G	301.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.05;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2385541;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|GMPPA|GMPPA|transcript|NM_013335.3|protein_coding||c.-3433A>G|||||2322|,G|upstream_gene_variant|MODIFIER|GMPPA|GMPPA|transcript|NM_205847.2|protein_coding||c.-3433A>G|||||2352|,G|downstream_gene_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding||c.*3757A>G|||||2911|,G|intron_variant|MODIFIER|LOC100996693|LOC100996693|transcript|NM_001286811.1|protein_coding|1/3|c.128+61A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4708;p3_1000G_AF=0.940096;p3_1000G_AFR_AF=0.7821;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=17788;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220361265;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:330,24,0
chr2	219498177	rs2029251	C	G	1803.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2029251;dbSNPBuildID=94;ANN=G|synonymous_variant|LOW|LOC100996693|LOC100996693|transcript|NM_001286811.1|protein_coding|4/4|c.705C>G|p.Val235Val|705/815|705/717|235/238||,G|upstream_gene_variant|MODIFIER|GMPPA|GMPPA|transcript|NM_013335.3|protein_coding||c.-1799C>G|||||688|,G|upstream_gene_variant|MODIFIER|GMPPA|GMPPA|transcript|NM_205847.2|protein_coding||c.-1799C>G|||||718|,G|downstream_gene_variant|MODIFIER|SPEG|SPEG|transcript|NM_005876.4|protein_coding||c.*5391C>G|||||4545|;p3_1000G_AA=G|||;p3_1000G_AC=4539;p3_1000G_AF=0.90635;p3_1000G_AFR_AF=0.6604;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=16402;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220362899;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1832,174,0
chr2	219502231	rs2385539	G	C	889.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2385539;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|LOC100996693|LOC100996693|transcript|NM_001286811.1|protein_coding||c.*4042G>C|||||3944|,C|intron_variant|MODIFIER|GMPPA|GMPPA|transcript|NM_013335.3|protein_coding|5/12|c.430-151G>C||||||,C|intron_variant|MODIFIER|GMPPA|GMPPA|transcript|NM_205847.2|protein_coding|5/12|c.430-151G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2342;p3_1000G_AF=0.467652;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=17704;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.6382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220366953;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:918,75,0
chr2	219506459	rs10932808	T	A	1420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.6;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932808;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GMPPA|GMPPA|transcript|NM_013335.3|protein_coding|12/12|c.1162+37T>A||||||,A|intron_variant|MODIFIER|GMPPA|GMPPA|transcript|NM_205847.2|protein_coding|12/12|c.1162+37T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4776;p3_1000G_AF=0.953674;p3_1000G_AFR_AF=0.8321;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=18675;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220371181;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3821,577;ESP6500_AA_GTC=1661,499,39;ESP6500_CDS_SIZES=NM_205847.2:1263,NM_013335.3:1263;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=19;ESP6500_EA_AC=8582,10;ESP6500_EA_GTC=4286,10,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205847.2:intron,NM_013335.3:intron;ESP6500_GL=GMPPA;ESP6500_GRCh38_POSITION=2:219506459;ESP6500_GTC=5947,509,39;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_205847.2:c.1162+37T>A,NM_013335.3:c.1162+37T>A;ESP6500_MAF=0.1164,13.1196,4.5189;ESP6500_TAC=12403,587	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1449,143,0
chr2	219514838	rs3731909	C	G	1597.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=0.732;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3731909;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding|1/10|c.495C>G|p.Ala165Ala|669/2901|495/2001|165/666||,G|synonymous_variant|LOW|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding|1/9|c.495C>G|p.Ala165Ala|669/2844|495/1944|165/647||;p3_1000G_AA=C|||;p3_1000G_AC=2539;p3_1000G_AF=0.506989;p3_1000G_AFR_AF=0.1944;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=15032;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.6362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220379560;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4908;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1163,3243;ESP6500_AA_GTC=157,849,1197;ESP6500_CDS_SIZES=NM_182847.2:1944;ESP6500_CG=-1.3;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=35;ESP6500_EA_AC=5391,3207;ESP6500_EA_GTC=1705,1981,613;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182847.2:coding-synonymous;ESP6500_GL=ASIC4;ESP6500_GRCh38_POSITION=2:219514838;ESP6500_GTC=1862,2830,1810;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_182847.2:c.495C>G;ESP6500_HGVS_PROTEIN_VAR=NM_182847.2:p.(A165);ESP6500_MAF=37.2994,26.3958,49.6001;ESP6500_TAC=6554,6450	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1626,153,0
chr2	219515403	rs1872858	G	A	439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.09;SOR=5.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1872858;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding|1/9|c.963+97G>A||||||,A|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding|1/8|c.963+97G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2484;p3_1000G_AF=0.496006;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=15890;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.6342;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220380125;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:468,36,0
chr2	219531699	rs1419595992	C	T	728.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.533;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=3.505;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.636;SOR=1.17;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding|1/9|c.964-59C>T||||||,T|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding|1/8|c.964-59C>T||||||	GT:AD:DP:GQ:PL	0/1:31,29:60:99:757,0,840
chr2	219533089	rs6731344	T	C	675.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=4.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6731344;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding|5/9|c.1456+150T>C||||||,C|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding|4/8|c.1399+612T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4749;p3_1000G_AF=0.948283;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=19012;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220397811;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:704,57,0
chr2	219537029	rs2385538	G	A	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.103;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.707;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2385538;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_024536.5|protein_coding||c.*2354C>T|||||1918|,A|downstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_001195731.1|protein_coding||c.*2354C>T|||||1918|,A|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding|6/9|c.1611-37G>A||||||,A|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding|5/8|c.1554-37G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1821;p3_1000G_AF=0.363618;p3_1000G_AFR_AF=0.3578;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=17383;p3_1000G_EAS_AF=0.3085;p3_1000G_EUR_AF=0.4543;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220401751;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1697,2709;ESP6500_AA_AGE=652.3+/-399.4;ESP6500_AA_GTC=296,1105,802;ESP6500_CDS_SIZES=NM_182847.2:1944;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=45;ESP6500_EA_AC=4037,4563;ESP6500_EA_AGE=596.0+/-393.5;ESP6500_EA_GTC=965,2107,1228;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182847.2:intron;ESP6500_GL=ASIC4;ESP6500_GRCh38_POSITION=2:219537029;ESP6500_GTC=1261,3212,2030;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_182847.2:c.1554-37G>A;ESP6500_MAF=46.9419,38.5157,44.0873;ESP6500_TAC=5734,7272	GT:AD:DP:GQ:PL	0/1:9,11:20:99:356,0,283
chr2	219537902	rs11689270	G	T	504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.78;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.59;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.55;ReadPosRankSum=-0.528;SOR=0.829;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11689270;dbSNPBuildID=120;ANN=T|downstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_024536.5|protein_coding||c.*1481C>A|||||1045|,T|downstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_001195731.1|protein_coding||c.*1481C>A|||||1045|,T|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding|9/9|c.1888-31G>T||||||,T|intron_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding|8/8|c.1831-31G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3706;p3_1000G_AF=0.740016;p3_1000G_AFR_AF=0.5719;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=15346;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.7773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220402624;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2696,1692;ESP6500_AA_GTC=834,1028,332;ESP6500_CDS_SIZES=NM_182847.2:1944;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=19;ESP6500_EA_AC=6683,1885;ESP6500_EA_GTC=2615,1453,216;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182847.2:intron;ESP6500_GL=ASIC4;ESP6500_GRCh38_POSITION=2:219537902;ESP6500_GTC=3449,2481,548;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_182847.2:c.1831-31G>T;ESP6500_MAF=22.0005,38.5597,27.6088;ESP6500_TAC=9379,3577	GT:AD:DP:GQ:PL	1/1:1,15:16:38:533,38,0
chr2	219537949	rs11689281	G	T	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.654;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.668;SOR=0.658;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11689281;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding|10/10|c.1904G>T|p.Arg635Leu|2078/2901|1904/2001|635/666||,T|missense_variant|MODERATE|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding|9/9|c.1847G>T|p.Arg616Leu|2021/2844|1847/1944|616/647||,T|downstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_024536.5|protein_coding||c.*1434C>A|||||998|,T|downstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_001195731.1|protein_coding||c.*1434C>A|||||998|;p3_1000G_AA=G|||;p3_1000G_AC=2715;p3_1000G_AF=0.542133;p3_1000G_AFR_AF=0.3177;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=15586;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.5427;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220402671;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7771;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1469,2931;ESP6500_AA_GTC=262,945,993;ESP6500_CDS_SIZES=NM_182847.2:1944;ESP6500_CG=3.0;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=23;ESP6500_EA_AC=4544,4056;ESP6500_EA_GTC=1224,2096,980;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182847.2:missense;ESP6500_GL=ASIC4;ESP6500_GRCh38_POSITION=2:219537949;ESP6500_GS=102;ESP6500_GTC=1486,3041,1973;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_182847.2:c.1847G>T;ESP6500_HGVS_PROTEIN_VAR=NM_182847.2:p.(R616L);ESP6500_MAF=47.1628,33.3864,46.2538;ESP6500_PH=benign:0.002;ESP6500_TAC=6013,6987	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,9:24:99:0|1:219537949_G_T:322,0,566
chr2	219537958	rs11695248	T	C	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.217;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11695248;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding|10/10|c.1913T>C|p.Val638Ala|2087/2901|1913/2001|638/666||,C|missense_variant|MODERATE|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding|9/9|c.1856T>C|p.Val619Ala|2030/2844|1856/1944|619/647||,C|downstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_024536.5|protein_coding||c.*1425A>G|||||989|,C|downstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_001195731.1|protein_coding||c.*1425A>G|||||989|;p3_1000G_AA=C|||;p3_1000G_AC=3064;p3_1000G_AF=0.611821;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=15692;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.5447;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220402680;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2466,1934;ESP6500_AA_GTC=669,1128,403;ESP6500_CDS_SIZES=NM_182847.2:1944;ESP6500_CG=2.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=26;ESP6500_EA_AC=4564,4034;ESP6500_EA_GTC=1237,2090,972;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182847.2:missense;ESP6500_GL=ASIC4;ESP6500_GRCh38_POSITION=2:219537958;ESP6500_GS=64;ESP6500_GTC=1906,3218,1375;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_182847.2:c.1856T>C;ESP6500_HGVS_PROTEIN_VAR=NM_182847.2:p.(V619A);ESP6500_MAF=46.9179,43.9545,45.9148;ESP6500_PH=benign:0.0;ESP6500_TAC=7030,5968	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,10:25:99:0|1:219537949_G_T:360,0,548
chr2	219539659	rs1976616	A	G	1305.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=0.843;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1976616;dbSNPBuildID=92;ANN=G|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_024536.5|protein_coding|4/4|c.2052T>C|p.Tyr684Tyr|2279/2991|2052/2328|684/775||,G|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_001195731.1|protein_coding|4/4|c.1566T>C|p.Tyr522Tyr|1923/2635|1566/1842|522/613||,G|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.-5069A>G|||||4347|,G|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.-5069A>G|||||4004|,G|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding||c.*1613A>G|||||887|,G|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding||c.*1613A>G|||||887|;p3_1000G_AA=G|||;p3_1000G_AC=4893;p3_1000G_AF=0.977037;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=12270;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220404381;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4128,278;ESP6500_AA_GTC=1938,252,13;ESP6500_CDS_SIZES=NM_024536.5:2328,NM_001195731.1:1842;ESP6500_CG=-5.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=43;ESP6500_EA_AC=8593,3;ESP6500_EA_GTC=4295,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024536.5:coding-synonymous,NM_001195731.1:coding-synonymous;ESP6500_GL=CHPF;ESP6500_GRCh38_POSITION=2:219539659;ESP6500_GTC=6233,255,13;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024536.5:c.2052T>C,NM_001195731.1:c.1566T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024536.5:p.(Y684),NM_001195731.1:p.(Y522);ESP6500_MAF=0.0349,6.3096,2.1612;ESP6500_TAC=12721,281	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1334,123,0
chr2	219539926	rs1043833	C	T	780.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.966;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.48;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1043833;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_024536.5|protein_coding|4/4|c.1785G>A|p.Leu595Leu|2012/2991|1785/2328|595/775||,T|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_001195731.1|protein_coding|4/4|c.1299G>A|p.Leu433Leu|1656/2635|1299/1842|433/613||,T|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.-4802C>T|||||4080|,T|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.-4802C>T|||||3737|,T|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding||c.*1880C>T|||||1154|,T|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding||c.*1880C>T|||||1154|;p3_1000G_AA=C|||;p3_1000G_AC=1534;p3_1000G_AF=0.30631;p3_1000G_AFR_AF=0.1884;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=17935;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220404648;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1096,3310;ESP6500_AA_GTC=126,844,1233;ESP6500_CDS_SIZES=NM_024536.5:2328,NM_001195731.1:1842;ESP6500_CG=-0.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=57;ESP6500_EA_AC=3967,4625;ESP6500_EA_GTC=933,2101,1262;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024536.5:coding-synonymous,NM_001195731.1:coding-synonymous;ESP6500_GL=CHPF;ESP6500_GRCh38_POSITION=2:219539926;ESP6500_GTC=1059,2945,2495;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024536.5:c.1785G>A,NM_001195731.1:c.1299G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024536.5:p.(L595),NM_001195731.1:p.(L433);ESP6500_MAF=46.1709,24.8752,38.9521;ESP6500_TAC=5063,7935	GT:AD:DP:GQ:PL	0/1:32,32:64:99:809,0,966
chr2	219540004	rs1043832	G	A	640.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.549;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0.99;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.439;SOR=0.74;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1043832;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_024536.5|protein_coding|4/4|c.1707C>T|p.His569His|1934/2991|1707/2328|569/775||,A|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_001195731.1|protein_coding|4/4|c.1221C>T|p.His407His|1578/2635|1221/1842|407/613||,A|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.-4724G>A|||||4002|,A|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.-4724G>A|||||3659|,A|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding||c.*1958G>A|||||1232|,A|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding||c.*1958G>A|||||1232|;p3_1000G_AA=G|||;p3_1000G_AC=1534;p3_1000G_AF=0.30631;p3_1000G_AFR_AF=0.1891;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=17582;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220404726;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1094,3308;ESP6500_AA_GTC=126,842,1233;ESP6500_CDS_SIZES=NM_024536.5:2328,NM_001195731.1:1842;ESP6500_CG=-4.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=30;ESP6500_EA_AC=3973,4621;ESP6500_EA_GTC=940,2093,1264;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024536.5:coding-synonymous,NM_001195731.1:coding-synonymous;ESP6500_GL=CHPF;ESP6500_GRCh38_POSITION=2:219540004;ESP6500_GTC=1066,2935,2497;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024536.5:c.1707C>T,NM_001195731.1:c.1221C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024536.5:p.(H569),NM_001195731.1:p.(H407);ESP6500_MAF=46.2299,24.8523,38.9889;ESP6500_TAC=5067,7929	GT:AD:DP:GQ:PL	0/1:32,28:60:99:669,0,818
chr2	219540508	rs6436154	G	A	536.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.292;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.09;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6436154;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_024536.5|protein_coding|4/4|c.1203C>T|p.His401His|1430/2991|1203/2328|401/775||,A|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_001195731.1|protein_coding|4/4|c.717C>T|p.His239His|1074/2635|717/1842|239/613||,A|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.-4220G>A|||||3498|,A|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.-4220G>A|||||3155|,A|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding||c.*2462G>A|||||1736|,A|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding||c.*2462G>A|||||1736|;p3_1000G_AA=G|||;p3_1000G_AC=1558;p3_1000G_AF=0.311102;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.4841;p3_1000G_AN=5008;p3_1000G_DP=17051;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220405230;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1157,3247;ESP6500_AA_AGE=387.2+/-326.4;ESP6500_AA_GTC=135,887,1180;ESP6500_CDS_SIZES=NM_024536.5:2328,NM_001195731.1:1842;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=3978,4620;ESP6500_EA_AGE=529.0+/-381.5;ESP6500_EA_GTC=939,2100,1260;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024536.5:coding-synonymous,NM_001195731.1:coding-synonymous;ESP6500_GL=CHPF;ESP6500_GRCh38_POSITION=2:219540508;ESP6500_GTC=1074,2987,2440;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024536.5:c.1203C>T,NM_001195731.1:c.717C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024536.5:p.(H401),NM_001195731.1:p.(H239);ESP6500_MAF=46.2666,26.2716,39.4939;ESP6500_TAC=5135,7867	GT:AD:DP:GQ:PL	0/1:20,20:40:99:565,0,523
chr2	219540599	rs6436155	T	C	1238.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.76;SOR=0.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436155;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|CHPF|CHPF|transcript|NM_024536.5|protein_coding|4/4|c.1112A>G|p.Gln371Arg|1339/2991|1112/2328|371/775||,C|missense_variant|MODERATE|CHPF|CHPF|transcript|NM_001195731.1|protein_coding|4/4|c.626A>G|p.Gln209Arg|983/2635|626/1842|209/613||,C|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.-4129T>C|||||3407|,C|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.-4129T>C|||||3064|,C|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding||c.*2553T>C|||||1827|,C|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding||c.*2553T>C|||||1827|;p3_1000G_AA=C|||;p3_1000G_AC=4815;p3_1000G_AF=0.961462;p3_1000G_AFR_AF=0.9191;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=18050;p3_1000G_EAS_AF=0.9385;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220405321;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4118,288;ESP6500_AA_GTC=1929,260,14;ESP6500_CDS_SIZES=NM_024536.5:2328,NM_001195731.1:1842;ESP6500_CG=2.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=22;ESP6500_EA_AC=8596,4;ESP6500_EA_GTC=4296,4,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024536.5:missense,NM_001195731.1:missense;ESP6500_GL=CHPF;ESP6500_GRCh38_POSITION=2:219540599;ESP6500_GS=43,43;ESP6500_GTC=6225,264,14;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024536.5:c.1112A>G,NM_001195731.1:c.626A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024536.5:p.(Q371R),NM_001195731.1:p.(Q209R);ESP6500_MAF=0.0465,6.5365,2.2451;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12714,292	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1267,117,0
chr2	219541517	rs13004994	T	G	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=2.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=0.659;SOR=0.333;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13004994;dbSNPBuildID=121;ANN=G|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.-3211T>G|||||2489|,G|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.-3211T>G|||||2146|,G|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding||c.*3471T>G|||||2745|,G|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding||c.*3471T>G|||||2745|,G|intron_variant|MODIFIER|CHPF|CHPF|transcript|NM_024536.5|protein_coding|2/3|c.888+99A>C||||||,G|intron_variant|MODIFIER|CHPF|CHPF|transcript|NM_001195731.1|protein_coding|2/3|c.402+99A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3062;p3_1000G_AF=0.611422;p3_1000G_AFR_AF=0.5628;p3_1000G_AMR_AF=0.4784;p3_1000G_AN=5008;p3_1000G_DP=21432;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220406239;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,14:21:99:465,0,173
chr2	219542000	rs3731912	T	C	901.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.88;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=4.29;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.079;SOR=0.912;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731912;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_024536.5|protein_coding|2/4|c.504A>G|p.Leu168Leu|731/2991|504/2328|168/775||,C|synonymous_variant|LOW|CHPF|CHPF|transcript|NM_001195731.1|protein_coding|2/4|c.18A>G|p.Leu6Leu|375/2635|18/1842|6/613||,C|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.-2728T>C|||||2006|,C|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.-2728T>C|||||1663|,C|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding||c.*3954T>C|||||3228|,C|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding||c.*3954T>C|||||3228|;p3_1000G_AA=C|||;p3_1000G_AC=3780;p3_1000G_AF=0.754792;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=15436;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220406722;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9162;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2990,1410;ESP6500_AA_GTC=1009,972,219;ESP6500_CDS_SIZES=NM_024536.5:2328,NM_001195731.1:1842;ESP6500_CG=2.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=19;ESP6500_EA_AC=6200,2392;ESP6500_EA_GTC=2248,1704,344;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024536.5:coding-synonymous,NM_001195731.1:coding-synonymous;ESP6500_GL=CHPF;ESP6500_GRCh38_POSITION=2:219542000;ESP6500_GTC=3257,2676,563;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024536.5:c.504A>G,NM_001195731.1:c.18A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024536.5:p.(L168),NM_001195731.1:p.(L6);ESP6500_MAF=27.8399,32.0455,29.2642;ESP6500_TAC=9190,3802	GT:AD:DP:GQ:PL	0/1:43,35:78:99:930,0,1135
chr2	219542222	rs7581251	G	A	612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7581251;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.-2506G>A|||||1784|,A|upstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.-2506G>A|||||1441|,A|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_018674.5|protein_coding||c.*4176G>A|||||3450|,A|downstream_gene_variant|MODIFIER|ASIC4|ASIC4|transcript|NM_182847.2|protein_coding||c.*4176G>A|||||3450|,A|intron_variant|MODIFIER|CHPF|CHPF|transcript|NM_024536.5|protein_coding|1/3|c.315-33C>T||||||,A|intron_variant|MODIFIER|CHPF|CHPF|transcript|NM_001195731.1|protein_coding|1/3|c.-172-33C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4857;p3_1000G_AF=0.969848;p3_1000G_AFR_AF=0.8956;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=11460;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220406944;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3382,246;ESP6500_AA_GTC=1573,236,5;ESP6500_CDS_SIZES=NM_024536.5:2328,NM_001195731.1:1842;ESP6500_CG=2.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=3;ESP6500_EA_AC=7567,5;ESP6500_EA_GTC=3781,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024536.5:intron,NM_001195731.1:intron;ESP6500_GL=CHPF;ESP6500_GRCh38_POSITION=2:219542222;ESP6500_GTC=5354,241,5;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024536.5:c.315-33C>T,NM_001195731.1:c.-205C>T;ESP6500_MAF=0.066,6.7806,2.2411;ESP6500_TAC=10949,251	GT:AD:DP:GQ:PL	1/1:0,16:16:48:641,48,0
chr2	219544979	rs10932811	C	T	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.825;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=-1.377;SOR=2.147;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10932811;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_024536.5|protein_coding||c.-1441G>A|||||1214|,T|upstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_001195731.1|protein_coding||c.-2962G>A|||||1882|,T|downstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.*4094G>A|||||4094|,T|intron_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding|2/4|c.166+86C>T||||||,T|intron_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding|3/5|c.166+86C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1684;p3_1000G_AF=0.336262;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=20299;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.4592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220409701;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:357,0,252
chr2	219547534	rs8179770	T	C	1083.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.29;SOR=0.746;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8179770;dbSNPBuildID=117;ANN=C|synonymous_variant|LOW|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding|3/5|c.195T>C|p.Phe65Phe|606/2236|195/1083|65/360||,C|synonymous_variant|LOW|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding|4/6|c.195T>C|p.Phe65Phe|780/2410|195/1083|65/360||,C|upstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_024536.5|protein_coding||c.-3996A>G|||||3769|,C|upstream_gene_variant|MODIFIER|CHPF|CHPF|transcript|NM_001195731.1|protein_coding||c.-5517A>G|||||4437|,C|downstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.*1539A>G|||||1539|,C|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding||c.*3301A>G|||||3194|;p3_1000G_AA=C|||;p3_1000G_AC=4854;p3_1000G_AF=0.969249;p3_1000G_AFR_AF=0.8896;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16950;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220412256;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4038,368;ESP6500_AA_AGE=189.2+/-215.4;ESP6500_AA_GTC=1855,328,20;ESP6500_CDS_SIZES=NM_001005209.1:1083;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_117;ESP6500_DP=334;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005209.1:coding-synonymous;ESP6500_GL=TMEM198;ESP6500_GRCh38_POSITION=2:219547534;ESP6500_GTC=6152,331,20;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005209.1:c.195T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005209.1:p.(F65);ESP6500_MAF=0.0349,8.3522,2.8525;ESP6500_TAC=12635,371	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1112,111,0
chr2	219549294	rs6436156	C	T	1358.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.8;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436156;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding|4/5|c.885C>T|p.Asp295Asp|1296/2236|885/1083|295/360||,T|synonymous_variant|LOW|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding|5/6|c.885C>T|p.Asp295Asp|1470/2410|885/1083|295/360||,T|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-147G>A|||||147|,T|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding||c.*1541G>A|||||1434|;p3_1000G_AA=C|||;p3_1000G_AC=4680;p3_1000G_AF=0.934505;p3_1000G_AFR_AF=0.7746;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=11280;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220414016;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3295,1111;ESP6500_AA_GTC=1441,413,349;ESP6500_CDS_SIZES=NM_001005209.1:1083;ESP6500_CG=0.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=44;ESP6500_EA_AC=8502,96;ESP6500_EA_GTC=4227,48,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005209.1:coding-synonymous;ESP6500_GL=TMEM198;ESP6500_GRCh38_POSITION=2:219549294;ESP6500_GTC=5668,461,373;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001005209.1:c.885C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001005209.1:p.(D295);ESP6500_MAF=1.1165,25.2156,9.2818;ESP6500_TAC=11797,1207	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,36:36:99:1|1:219549294_C_T:1387,108,0
chr2	219549297	rs13023533	T	C	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=2.928;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.46;SOR=0.531;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13023533;dbSNPBuildID=121;ANN=C|synonymous_variant|LOW|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding|4/5|c.888T>C|p.Pro296Pro|1299/2236|888/1083|296/360||,C|synonymous_variant|LOW|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding|5/6|c.888T>C|p.Pro296Pro|1473/2410|888/1083|296/360||,C|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-150A>G|||||150|,C|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding||c.*1538A>G|||||1431|;p3_1000G_AA=T|||;p3_1000G_AC=1965;p3_1000G_AF=0.392372;p3_1000G_AFR_AF=0.4077;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=11770;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220414019;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=716,3690;ESP6500_AA_GTC=295,126,1782;ESP6500_CDS_SIZES=NM_001005209.1:1083;ESP6500_CG=-1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=44;ESP6500_EA_AC=1537,7063;ESP6500_EA_GTC=640,257,3403;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001005209.1:coding-synonymous;ESP6500_GL=TMEM198;ESP6500_GRCh38_POSITION=2:219549297;ESP6500_GTC=935,383,5185;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001005209.1:c.888T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001005209.1:p.(P296);ESP6500_MAF=17.8721,16.2506,17.3228;ESP6500_TAC=2253,10753	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,19:34:99:0|1:219549294_C_T:523,0,377
chr2	219550873	rs146790993;rs773450389;rs869062633	GGA	G	788.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.157;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=0.032;SOR=0.993;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs146790993;dbSNPBuildID=134,144,147;ANN=G|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-1728_-1727delTC|||||1727|,G|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*1020_*1021delGA|||||278|,G|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*1020_*1021delGA|||||278|,G|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*5122_*5123delTC|||||4276|,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|20/20|c.5684-33_5684-32delTC||||||;p3_1000G_AC=1923;p3_1000G_AF=0.383986;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=17661;p3_1000G_EAS_AF=0.38;p3_1000G_EUR_AF=0.4563;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220415595;p3_1000G_GRCH37_REF=GGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=INDEL;ESP6500_AA_AC=1515,2211;ESP6500_AA_GTC=337,841,685;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=4.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=29;ESP6500_EA_AC=3578,4320;ESP6500_EA_GTC=829,1920,1200;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219550873;ESP6500_GTC=1166,2761,1885;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.5684-33_5684-32del2;ESP6500_MAF=45.3026,40.6602,43.8145;ESP6500_TAC=5093,6531	GT:AD:DP:GQ:PL	0/1:24,23:47:99:826,0,891
chr2	219550924	rs1043582	T	C	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.83;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.17;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1043582;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-1777A>G|||||1777|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*1070T>C|||||328|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*1070T>C|||||328|,C|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*5073A>G|||||4226|,C|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|20/20|c.5684-82A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1924;p3_1000G_AF=0.384185;p3_1000G_AFR_AF=0.3797;p3_1000G_AMR_AF=0.5216;p3_1000G_AN=5008;p3_1000G_DP=17504;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.4563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220415646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:434,0,374
chr2	219550995	rs3731918	G	A	137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.484;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.07;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731918;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-1848C>T|||||1848|,A|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*1141G>A|||||399|,A|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*1141G>A|||||399|,A|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*5002C>T|||||4155|,A|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|20/20|c.5684-153C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2669;p3_1000G_AF=0.532947;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=17491;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.5388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220415717;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7781;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:166,0,210
chr2	219551442	rs6761575	T	C	201.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.83;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6761575;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-2295A>G|||||2295|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*1588T>C|||||846|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*1588T>C|||||846|,C|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*4555A>G|||||3708|,C|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|20/20|c.5683+87A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4702;p3_1000G_AF=0.938898;p3_1000G_AFR_AF=0.7852;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=13592;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220416164;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:230,21,0
chr2	219551848	rs4672931	C	T	470.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.42;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672931;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-2701G>A|||||2701|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*1994C>T|||||1252|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*1994C>T|||||1252|,T|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*4149G>A|||||3302|,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|19/20|c.5414-50G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4651;p3_1000G_AF=0.928714;p3_1000G_AFR_AF=0.7481;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=15226;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220416570;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1543,259;ESP6500_AA_GTC=646,251,4;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=2;ESP6500_EA_AC=3229,21;ESP6500_EA_GTC=1604,21,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219551848;ESP6500_GTC=2250,272,4;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.5414-50G>A;ESP6500_MAF=0.6462,14.3729,5.5424;ESP6500_TAC=4772,280	GT:AD:DP:GQ:PL	1/1:0,16:16:48:499,48,0
chr2	219552081	rs4672933	A	T	1087.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.63;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4672933;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-2934T>A|||||2934|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*2227A>T|||||1485|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*2227A>T|||||1485|,T|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*3916T>A|||||3069|,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|19/20|c.5413+31T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4899;p3_1000G_AF=0.978235;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=12340;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220416803;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3738,216;ESP6500_AA_GTC=1767,204,6;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=11;ESP6500_EA_AC=8229,3;ESP6500_EA_GTC=4113,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219552081;ESP6500_GTC=5880,207,6;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.5413+31T>A;ESP6500_MAF=0.0364,5.4628,1.7971;ESP6500_TAC=11967,219	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1116,114,0
chr2	219552220	rs34490902;194972	G	C	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.666;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34490902;dbSNPBuildID=126;ANN=C|splice_region_variant&intron_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|18/20|c.5309-4C>G||||||,C|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-3073C>G|||||3073|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*2366G>C|||||1624|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*2366G>C|||||1624|,C|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*3777C>G|||||2930|;p3_1000G_AA=G|||;p3_1000G_AC=1941;p3_1000G_AF=0.38758;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=12973;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220416942;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1464,2268;ESP6500_AA_GTC=302,860,704;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=0.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=10;ESP6500_EA_AC=3706,4438;ESP6500_EA_GTC=892,1922,1258;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219552220;ESP6500_GTC=1194,2782,1962;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.5309-4C>G;ESP6500_MAF=45.5059,39.2283,43.5332;ESP6500_TAC=5170,6706;CLINVAR_AF_ESP=0.4353;CLINVAR_AF_EXAC=0.46681;CLINVAR_AF_TGP=0.3876;CLINVAR_ALLELEID=192134;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616|MedGen:CN169374;CLINVAR_CLNDN=Three_M_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.219552220G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:577814;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34490902	GT:AD:DP:GQ:PL	0/1:12,7:19:99:217,0,327
chr2	219552245	rs4672934	C	T	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.156;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.571;SOR=0.813;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4672934;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-3098G>A|||||3098|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*2391C>T|||||1649|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*2391C>T|||||1649|,T|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*3752G>A|||||2905|,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|18/20|c.5309-29G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2650;p3_1000G_AF=0.529153;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.4452;p3_1000G_AN=5008;p3_1000G_DP=13022;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.5249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220416967;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1184,2488;ESP6500_AA_GTC=233,718,885;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=-2.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=6;ESP6500_EA_AC=4149,3933;ESP6500_EA_GTC=1162,1825,1054;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219552245;ESP6500_GTC=1395,2543,1939;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.5309-29G>A;ESP6500_MAF=48.6637,32.244,45.3718;ESP6500_TAC=5333,6421	GT:AD:DP:GQ:PL	0/1:7,10:17:99:270,0,162
chr2	219552506	rs60549465	G	T	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.84;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=-0.47;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60549465;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-3359C>A|||||3359|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*2652G>T|||||1910|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*2652G>T|||||1910|,T|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*3491C>A|||||2644|,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|18/20|c.5308+30C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.5101;p3_1000G_AN=5008;p3_1000G_DP=8934;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.4682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220417228;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=926,2796;ESP6500_AA_GTC=124,678,1059;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=9;ESP6500_EA_AC=3546,4466;ESP6500_EA_GTC=840,1866,1300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219552506;ESP6500_GTC=964,2544,2359;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.5308+30C>A;ESP6500_MAF=44.2586,24.8791,38.1115;ESP6500_TAC=4472,7262	GT:AD:DP:GQ:PL	0/1:6,16:22:99:375,0,183
chr2	219552544	rs59332477;288014	C	T	502.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.106;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.607;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=2.06;SOR=0.328;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59332477;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|18/21|c.5300G>A|p.Arg1767Gln|5614/6112|5300/5691|1767/1896||,T|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-3397G>A|||||3397|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*2690C>T|||||1948|,T|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*2690C>T|||||1948|,T|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*3453G>A|||||2606|;p3_1000G_AA=C|||;p3_1000G_AC=1886;p3_1000G_AF=0.376597;p3_1000G_AFR_AF=0.3495;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=10361;p3_1000G_EAS_AF=0.3819;p3_1000G_EUR_AF=0.4583;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220417266;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1409,2443;ESP6500_AA_GTC=283,843,800;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=4.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=12;ESP6500_EA_AC=3644,4534;ESP6500_EA_GTC=865,1914,1310;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015311.2:missense;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219552544;ESP6500_GS=43;ESP6500_GTC=1148,2757,2110;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.5300G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(R1767Q);ESP6500_MAF=44.5586,36.5784,42.0033;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=5053,6977;CLINVAR_AF_ESP=0.4200;CLINVAR_AF_EXAC=0.46833;CLINVAR_AF_TGP=0.3766;CLINVAR_ALLELEID=272251;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616|MedGen:CN169374;CLINVAR_CLNDN=Three_M_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.219552544C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560275;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=59332477	GT:AD:DP:GQ:PL	0/1:9,21:30:99:531,0,215
chr2	219553189	rs6436157	T	C	409.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.15;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436157;dbSNPBuildID=116;ANN=C|upstream_gene_variant|MODIFIER|MIR3132|MIR3132|transcript|NR_036082.1|pseudogene||n.-4042A>G|||||4042|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*3335T>C|||||2593|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*3335T>C|||||2593|,C|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*2808A>G|||||1961|,C|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|16/20|c.4990-165A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4700;p3_1000G_AF=0.938498;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=16209;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220417911;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:438,36,0
chr2	219554514	rs10932813;334466	T	C	1944.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.87;SOR=1.01;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932813;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|15/21|c.4836A>G|p.Thr1612Thr|5150/6112|4836/5691|1612/1896||,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*4660T>C|||||3918|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*4660T>C|||||3918|,C|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*1483A>G|||||636|;p3_1000G_AA=C|||;p3_1000G_AC=4934;p3_1000G_AF=0.985224;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19997;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220419236;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4129,153;ESP6500_AA_GTC=1989,151,1;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=-2.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=43;ESP6500_EA_AC=8449,3;ESP6500_EA_GTC=4223,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:coding-synonymous;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219554514;ESP6500_GTC=6212,154,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.4836A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(T1612);ESP6500_MAF=0.0355,3.5731,1.2251;ESP6500_TAC=12578,156;CLINVAR_ALLELEID=287705;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219554514T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560277;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10932813	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1973,189,0
chr2	219554617	rs10932814;334469	T	C	2030.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=1.341;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932814;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|15/21|c.4733A>G|p.Gln1578Arg|5047/6112|4733/5691|1578/1896||,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001005209.2|protein_coding||c.*4763T>C|||||4021|,C|downstream_gene_variant|MODIFIER|TMEM198|TMEM198|transcript|NM_001303098.1|protein_coding||c.*4763T>C|||||4021|,C|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.*1380A>G|||||533|;p3_1000G_AA=C|||;p3_1000G_AC=4813;p3_1000G_AF=0.961062;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=17791;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220419339;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3735,421;ESP6500_AA_GTC=1686,363,29;ESP6500_CDS_SIZES=NM_015311.2:5691;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=8315,63;ESP6500_EA_GTC=4126,63,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015311.2:missense;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219554617;ESP6500_GS=43;ESP6500_GTC=5812,426,29;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.4733A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(Q1578R);ESP6500_MAF=0.752,10.1299,3.8615;ESP6500_PH=benign:0.0;ESP6500_TAC=12050,484;CLINVAR_ALLELEID=287707;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219554617T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560279;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10932814	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2059,195,0
chr2	219556063	rs3087971;334470	G	A	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.665;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=2.337;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.644;SOR=0.397;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3087971;dbSNPBuildID=102;ANN=A|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|14/21|c.4566C>T|p.Cys1522Cys|4880/6112|4566/5691|1522/1896||,A|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|14/14|c.4566C>T|p.Cys1522Cys|4880/5793|4566/4632|1522/1543||;p3_1000G_AA=G|||;p3_1000G_AC=1148;p3_1000G_AF=0.229233;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=15387;p3_1000G_EAS_AF=0.2837;p3_1000G_EUR_AF=0.2734;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220420785;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=944,3286;ESP6500_AA_GTC=124,696,1295;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632;ESP6500_CG=-6.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=43;ESP6500_EA_AC=2355,6105;ESP6500_EA_GTC=334,1687,2209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:coding-synonymous,NM_001173431.1:coding-synonymous;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219556063;ESP6500_GTC=458,2383,3504;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.4566C>T,NM_001173431.1:c.4566C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(C1522),NM_001173431.1:p.(C1522);ESP6500_MAF=27.8369,22.3168,25.9968;ESP6500_TAC=3299,9391;CLINVAR_AF_ESP=0.2600;CLINVAR_AF_EXAC=0.25483;CLINVAR_AF_TGP=0.2292;CLINVAR_ALLELEID=284807;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219556063G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560281;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3087971	GT:AD:DP:GQ:PL	0/1:30,26:56:99:536,0,809
chr2	219556234	rs10932816;334475	A	G	1401.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.86;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10932816;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|14/21|c.4395T>C|p.Asp1465Asp|4709/6112|4395/5691|1465/1896||,G|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|14/14|c.4395T>C|p.Asp1465Asp|4709/5793|4395/4632|1465/1543||;p3_1000G_AA=G|||;p3_1000G_AC=4826;p3_1000G_AF=0.963658;p3_1000G_AFR_AF=0.8684;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16217;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220420956;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3799,383;ESP6500_AA_GTC=1731,337,23;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632;ESP6500_CG=-5.7;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=31;ESP6500_EA_AC=8419,3;ESP6500_EA_GTC=4208,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:coding-synonymous,NM_001173431.1:coding-synonymous;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219556234;ESP6500_GTC=5939,340,23;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.4395T>C,NM_001173431.1:c.4395T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(D1465),NM_001173431.1:p.(D1465);ESP6500_MAF=0.0356,9.1583,3.0625;ESP6500_TAC=12218,386;CLINVAR_ALLELEID=284811;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219556234A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560283;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10932816	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1430,132,0
chr2	219556695	rs1983210;334483	C	G	1406.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.794;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=0.746;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.384;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1983210;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|13/21|c.4095G>C|p.Glu1365Asp|4409/6112|4095/5691|1365/1896||,G|missense_variant|MODERATE|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|13/14|c.4095G>C|p.Glu1365Asp|4409/5793|4095/4632|1365/1543||;p3_1000G_AA=C|||;p3_1000G_AC=3629;p3_1000G_AF=0.724641;p3_1000G_AFR_AF=0.6036;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=20402;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.7366;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220421417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.911;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2769,1573;ESP6500_AA_GTC=911,947,313;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=39;ESP6500_EA_AC=6240,2266;ESP6500_EA_GTC=2298,1644,311;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015311.2:missense,NM_001173431.1:missense;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219556695;ESP6500_GS=45,45;ESP6500_GTC=3209,2591,624;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.4095G>C,NM_001173431.1:c.4095G>C;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(E1365D),NM_001173431.1:p.(E1365D);ESP6500_MAF=26.64,36.2275,29.8801;ESP6500_PH=possibly-damaging:0.846,possibly-damaging:0.846;ESP6500_TAC=9009,3839;CLINVAR_ALLELEID=287997;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219556695C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560285;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1983210	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1435,0,1267
chr2	219556757	rs13010015	A	G	976.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=1.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.631;SOR=0.988;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13010015;dbSNPBuildID=121;ANN=G|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding||c.*5127T>C|||||4959|,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|12/20|c.4067-34T>C||||||,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|12/13|c.4067-34T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1169;p3_1000G_AF=0.233427;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=20010;p3_1000G_EAS_AF=0.2827;p3_1000G_EUR_AF=0.2555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220421479;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1042,3180;ESP6500_AA_GTC=150,742,1219;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=24;ESP6500_EA_AC=2147,6283;ESP6500_EA_GTC=287,1573,2355;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron,NM_001173431.1:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219556757;ESP6500_GTC=437,2315,3574;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.4067-34T>C,NM_001173431.1:c.4067-34T>C;ESP6500_MAF=25.4686,24.6802,25.2055;ESP6500_TAC=3189,9463	GT:AD:DP:GQ:PL	0/1:34,33:67:99:1005,0,1027
chr2	219557678	rs2278200	C	G	241.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=-0.253;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278200;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding||c.*4206G>C|||||4038|,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|11/20|c.3791-60G>C||||||,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|11/13|c.3791-60G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2047;p3_1000G_AF=0.408746;p3_1000G_AFR_AF=0.4758;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=17097;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220422400;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,8:10:43:270,0,43
chr2	219558052	rs2278201;334496	A	G	2112.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.55;ClippingRankSum=0;DP=130;ExcessHet=3.0103;FS=17.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.683;SOR=0.142;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278201;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|11/21|c.3561T>C|p.Pro1187Pro|3875/6112|3561/5691|1187/1896||,G|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|11/14|c.3561T>C|p.Pro1187Pro|3875/5793|3561/4632|1187/1543||,G|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding||c.*3832T>C|||||3664|;p3_1000G_AA=G|||;p3_1000G_AC=2099;p3_1000G_AF=0.419129;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.5245;p3_1000G_AN=5008;p3_1000G_DP=16748;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.4433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220422774;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2002,1976;ESP6500_AA_GTC=531,940,518;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632;ESP6500_CG=-8.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=3592,4702;ESP6500_EA_GTC=806,1980,1361;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:coding-synonymous,NM_001173431.1:coding-synonymous;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219558052;ESP6500_GTC=1337,2920,1879;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.3561T>C,NM_001173431.1:c.3561T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(P1187),NM_001173431.1:p.(P1187);ESP6500_MAF=43.3084,49.6732,45.5834;ESP6500_TAC=5594,6678;CLINVAR_AF_ESP=0.4558;CLINVAR_AF_EXAC=0.43035;CLINVAR_AF_TGP=0.4191;CLINVAR_ALLELEID=288042;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219558052A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560289;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2278201	GT:AD:DP:GQ:PL	0/1:55,75:130:99:2141,0,1365
chr2	219558645	rs13401387	C	T	38.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.842;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13401387;dbSNPBuildID=121;ANN=T|downstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding||c.*3239G>A|||||3071|,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|9/20|c.3227-186G>A||||||,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|9/13|c.3227-186G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2049;p3_1000G_AF=0.409145;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=18141;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.4433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220423367;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:67:67,0,107
chr2	219562625	rs10804275;334500	G	T	838.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.668;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.016;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.545;SOR=0.94;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10804275;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|8/21|c.2730C>A|p.Ala910Ala|3044/6112|2730/5691|910/1896||,T|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|8/14|c.2730C>A|p.Ala910Ala|3044/5793|2730/4632|910/1543||,T|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|8/9|c.2730C>A|p.Ala910Ala|3044/3560|2730/3078|910/1025||;p3_1000G_AA=G|||;p3_1000G_AC=850;p3_1000G_AF=0.169728;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=17634;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.2406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220427347;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=601,3791;ESP6500_AA_GTC=49,503,1644;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632,NM_001173408.1:3078;ESP6500_CG=-4.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=33;ESP6500_EA_AC=2123,6451;ESP6500_EA_GTC=272,1579,2436;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:coding-synonymous,NM_001173431.1:coding-synonymous,NM_001173408.1:coding-synonymous;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219562625;ESP6500_GTC=321,2082,4080;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.2730C>A,NM_001173431.1:c.2730C>A,NM_001173408.1:c.2730C>A;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(A910),NM_001173431.1:p.(A910),NM_001173408.1:p.(A910);ESP6500_MAF=24.7609,13.684,21.0088;ESP6500_TAC=2724,10242;CLINVAR_AF_ESP=0.2101;CLINVAR_AF_EXAC=0.26836;CLINVAR_AF_TGP=0.1697;CLINVAR_ALLELEID=288045;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219562625G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560291;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10804275	GT:AD:DP:GQ:PL	0/1:27,34:61:99:867,0,662
chr2	219562673	rs3183099;334503	G	A	536.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.984;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=0.298;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3183099;dbSNPBuildID=105;ANN=A|splice_region_variant&synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|8/21|c.2682C>T|p.Asp894Asp|2996/6112|2682/5691|894/1896||,A|splice_region_variant&synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|8/14|c.2682C>T|p.Asp894Asp|2996/5793|2682/4632|894/1543||,A|splice_region_variant&synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|8/9|c.2682C>T|p.Asp894Asp|2996/3560|2682/3078|894/1025||;p3_1000G_AA=G|||;p3_1000G_AC=822;p3_1000G_AF=0.164137;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=17765;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220427395;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=461,3787;ESP6500_AA_GTC=40,381,1703;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632,NM_001173408.1:3078;ESP6500_CG=-7.6;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=21;ESP6500_EA_AC=1962,6404;ESP6500_EA_GTC=251,1460,2472;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015311.2:coding-synonymous-near-splice,NM_001173431.1:coding-synonymous-near-splice,NM_001173408.1:coding-synonymous-near-splice;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219562673;ESP6500_GTC=291,1841,4175;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.2682C>T,NM_001173431.1:c.2682C>T,NM_001173408.1:c.2682C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(D894),NM_001173431.1:p.(D894),NM_001173408.1:p.(D894);ESP6500_MAF=23.4521,10.8522,19.2088;ESP6500_TAC=2423,10191;CLINVAR_AF_ESP=0.1921;CLINVAR_AF_EXAC=0.20281;CLINVAR_AF_TGP=0.1641;CLINVAR_ALLELEID=287767;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219562673G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560293;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3183099	GT:AD:DP:GQ:PL	0/1:14,20:34:99:565,0,438
chr2	219562706	rs55904205	GA	G	520.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.786;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=0.906;SOR=1.085;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs55904205;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|7/20|c.2681-33delT||||||,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|7/13|c.2681-33delT||||||,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|7/8|c.2681-33delT||||||;p3_1000G_AA=A|A|-|deletion;p3_1000G_AC=843;p3_1000G_AF=0.168331;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=19271;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.2386;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220427428;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=INDEL;ESP6500_AA_AC=521,3363;ESP6500_AA_GTC=98,325,1519;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632,NM_001173408.1:3078;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=15;ESP6500_EA_AC=1873,5707;ESP6500_EA_GTC=392,1089,2309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron,NM_001173431.1:intron,NM_001173408.1:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219562706;ESP6500_GTC=490,1414,3828;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.2681-33del1,NM_001173431.1:c.2681-33del1,NM_001173408.1:c.2681-33del1;ESP6500_MAF=24.7098,13.414,20.8828;ESP6500_TAC=2394,9070	GT:AD:DP:GQ:PL	0/1:12,16:28:99:558,0,389
chr2	219563274	rs11904583	T	C	872.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.6;SOR=4.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11904583;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|7/20|c.2680+81A>G||||||,C|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|7/13|c.2680+81A>G||||||,C|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|7/8|c.2680+81A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4898;p3_1000G_AF=0.978035;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=15693;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220427996;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,23:23:69:1|1:219563274_T_C:901,69,0
chr2	219563659	rs2303543	A	T	806.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.87;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=3.996;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.393;SOR=0.313;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303543;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|6/20|c.2408-32T>A||||||,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|6/13|c.2408-32T>A||||||,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|6/8|c.2408-32T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2788;p3_1000G_AF=0.556709;p3_1000G_AFR_AF=0.2534;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=20865;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.6809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220428381;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1464,2870;ESP6500_AA_GTC=269,926,972;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632,NM_001173408.1:3078;ESP6500_CG=4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=5779,2747;ESP6500_EA_GTC=1970,1839,454;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron,NM_001173431.1:intron,NM_001173408.1:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219563659;ESP6500_GTC=2239,2765,1426;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.2408-32T>A,NM_001173431.1:c.2408-32T>A,NM_001173408.1:c.2408-32T>A;ESP6500_MAF=32.2191,33.7794,43.6781;ESP6500_TAC=7243,5617	GT:AD:DP:GQ:PL	0/1:30,29:59:99:835,0,779
chr2	219565481	rs1039898;334508	C	T	3293.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=98;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.61;SOR=2.117;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1039898;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|6/21|c.2168G>A|p.Arg723Lys|2482/6112|2168/5691|723/1896||,T|missense_variant|MODERATE|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|6/14|c.2168G>A|p.Arg723Lys|2482/5793|2168/4632|723/1543||,T|missense_variant|MODERATE|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|6/9|c.2168G>A|p.Arg723Lys|2482/3560|2168/3078|723/1025||;p3_1000G_AA=T|||;p3_1000G_AC=3970;p3_1000G_AF=0.792732;p3_1000G_AFR_AF=0.5847;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=18382;p3_1000G_EAS_AF=0.9038;p3_1000G_EUR_AF=0.9066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220430203;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2746,1340;ESP6500_AA_GTC=936,874,233;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632,NM_001173408.1:3078;ESP6500_CG=2.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=83;ESP6500_EA_AC=7582,802;ESP6500_EA_GTC=3421,740,31;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015311.2:missense,NM_001173431.1:missense,NM_001173408.1:missense;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219565481;ESP6500_GS=26,26,26;ESP6500_GTC=4357,1614,264;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.2168G>A,NM_001173431.1:c.2168G>A,NM_001173408.1:c.2168G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(R723K),NM_001173431.1:p.(R723K),NM_001173408.1:p.(R723K);ESP6500_MAF=9.5658,32.7949,17.1772;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10328,2142;CLINVAR_ALLELEID=287769;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616;CLINVAR_CLNDN=Three_M_syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.219565481C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560295;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1039898	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3322,293,0
chr2	219567197	rs4674412	A	G	772.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.86;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4674412;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|4/20|c.1838-71T>C||||||,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|4/13|c.1838-71T>C||||||,G|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|4/8|c.1838-71T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4906;p3_1000G_AF=0.979633;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=16033;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220431919;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:801,63,0
chr2	219567987	rs2292360	A	T	1121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.121;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0.824;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.11;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292360;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|INHA|INHA|transcript|NM_002191.3|protein_coding||c.-4388A>T|||||4245|,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|2/20|c.1283-18T>A||||||,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|2/13|c.1283-18T>A||||||,T|intron_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|2/8|c.1283-18T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1842;p3_1000G_AF=0.367812;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=17188;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.4632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220432709;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=838,3464;ESP6500_AA_GTC=86,666,1399;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632,NM_001173408.1:3078;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=3678,4788;ESP6500_EA_GTC=786,2106,1341;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:intron,NM_001173431.1:intron,NM_001173408.1:intron;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219567987;ESP6500_GTC=872,2772,2740;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.1283-18T>A,NM_001173431.1:c.1283-18T>A,NM_001173408.1:c.1283-18T>A;ESP6500_MAF=43.4444,19.4793,35.3697;ESP6500_TAC=4516,8252	GT:AD:DP:GQ:PL	0/1:39,44:83:99:1150,0,976
chr2	219570312	rs10180675;193382	A	G	2941.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=0.982;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10180675;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|1/21|c.921T>C|p.Leu307Leu|1235/6112|921/5691|307/1896||,G|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|1/14|c.921T>C|p.Leu307Leu|1235/5793|921/4632|307/1543||,G|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|1/9|c.921T>C|p.Leu307Leu|1235/3560|921/3078|307/1025||,G|upstream_gene_variant|MODIFIER|INHA|INHA|transcript|NM_002191.3|protein_coding||c.-2063A>G|||||1920|;p3_1000G_AA=G|||;p3_1000G_AC=3923;p3_1000G_AF=0.783347;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=12830;p3_1000G_EAS_AF=0.9028;p3_1000G_EUR_AF=0.9076;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220435034;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.818;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2676,1432;ESP6500_AA_GTC=884,908,262;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632,NM_001173408.1:3078;ESP6500_CG=-1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=31;ESP6500_EA_AC=7537,797;ESP6500_EA_GTC=3402,733,32;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:coding-synonymous,NM_001173431.1:coding-synonymous,NM_001173408.1:coding-synonymous;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219570312;ESP6500_GTC=4286,1641,294;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.921T>C,NM_001173431.1:c.921T>C,NM_001173408.1:c.921T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(L307),NM_001173431.1:p.(L307),NM_001173408.1:p.(L307);ESP6500_MAF=9.5632,34.8588,17.9151;ESP6500_TAC=10213,2229;CLINVAR_ALLELEID=190546;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616|MedGen:CN169374;CLINVAR_CLNDN=Three_M_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.219570312A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560297;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10180675	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2970,276,0
chr2	219570653	rs1061399;290129	G	A	533.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.794;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.012;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.994;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1061399;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding|1/21|c.580C>T|p.Leu194Leu|894/6112|580/5691|194/1896||,A|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding|1/14|c.580C>T|p.Leu194Leu|894/5793|580/4632|194/1543||,A|synonymous_variant|LOW|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding|1/9|c.580C>T|p.Leu194Leu|894/3560|580/3078|194/1025||,A|upstream_gene_variant|MODIFIER|INHA|INHA|transcript|NM_002191.3|protein_coding||c.-1722G>A|||||1579|;p3_1000G_AA=G|||;p3_1000G_AC=1797;p3_1000G_AF=0.358826;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=9816;p3_1000G_EAS_AF=0.5069;p3_1000G_EUR_AF=0.4632;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220435375;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4284;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=373,2241;ESP6500_AA_GTC=59,255,993;ESP6500_CDS_SIZES=NM_015311.2:5691,NM_001173431.1:4632,NM_001173408.1:3078;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=3;ESP6500_EA_AC=2075,3541;ESP6500_EA_GTC=472,1131,1205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015311.2:coding-synonymous,NM_001173431.1:coding-synonymous,NM_001173408.1:coding-synonymous;ESP6500_GL=OBSL1;ESP6500_GRCh38_POSITION=2:219570653;ESP6500_GTC=531,1386,2198;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015311.2:c.580C>T,NM_001173431.1:c.580C>T,NM_001173408.1:c.580C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015311.2:p.(L194),NM_001173431.1:p.(L194),NM_001173408.1:p.(L194);ESP6500_MAF=36.948,14.2693,29.7448;ESP6500_TAC=2448,5782;CLINVAR_AF_ESP=0.2975;CLINVAR_AF_EXAC=0.44477;CLINVAR_AF_TGP=0.3588;CLINVAR_ALLELEID=274366;CLINVAR_CLNDISDB=MedGen:CN073943,Orphanet:ORPHA2616|MedGen:CN169374;CLINVAR_CLNDN=Three_M_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.219570653G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:560299;CLINVAR_GENEINFO=OBSL1:23363;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1061399	GT:AD:DP:GQ:PL	0/1:15,21:36:99:562,0,421
chr2	219572359	rs35118453	C	T	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.139;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-2.006;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35118453;dbSNPBuildID=126;ANN=T|5_prime_UTR_variant|MODIFIER|INHA|INHA|transcript|NM_002191.3|protein_coding|1/2|c.-16C>T|||||16|,T|upstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding||c.-1127G>A|||||813|,T|upstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.-1127G>A|||||813|,T|upstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding||c.-1127G>A|||||813|;p3_1000G_AA=C|||;p3_1000G_AC=819;p3_1000G_AF=0.163538;p3_1000G_AFR_AF=0.1188;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=16397;p3_1000G_EAS_AF=0.2113;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220437081;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=619,3787;ESP6500_AA_AGE=269.8+/-269.2;ESP6500_AA_GTC=57,505,1641;ESP6500_CDS_SIZES=NM_002191.3:1101;ESP6500_CG=4.0;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=70;ESP6500_EA_AC=1750,6850;ESP6500_EA_AGE=316.7+/-312.9;ESP6500_EA_GTC=178,1394,2728;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002191.3:utr-5;ESP6500_GL=INHA;ESP6500_GRCh38_POSITION=2:219572359;ESP6500_GTC=235,1899,4369;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002191.3:c.-16C>T;ESP6500_MAF=20.3488,14.049,18.2147;ESP6500_TAC=2369,10637	GT:AD:DP:GQ:PL	0/1:9,9:18:99:219,0,260
chr2	219574956	rs12720063	C	T	1017.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.722;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=1.633;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.156;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12720063;dbSNPBuildID=121;ANN=T|synonymous_variant|LOW|INHA|INHA|transcript|NM_002191.3|protein_coding|2/2|c.531C>T|p.Ala177Ala|674/1431|531/1101|177/366||,T|upstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_015311.2|protein_coding||c.-3724G>A|||||3410|,T|upstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173431.1|protein_coding||c.-3724G>A|||||3410|,T|upstream_gene_variant|MODIFIER|OBSL1|OBSL1|transcript|NM_001173408.1|protein_coding||c.-3724G>A|||||3410|;p3_1000G_AA=C|||;p3_1000G_AC=768;p3_1000G_AF=0.153355;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=19024;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.1968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220439678;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=504,3902;ESP6500_AA_AGE=232.6+/-246.1;ESP6500_AA_GTC=35,434,1734;ESP6500_CDS_SIZES=NM_002191.3:1101;ESP6500_CG=-11.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=80;ESP6500_EA_AC=1757,6843;ESP6500_EA_AGE=317.9+/-313.4;ESP6500_EA_GTC=179,1399,2722;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002191.3:coding-synonymous;ESP6500_GL=INHA;ESP6500_GRCh38_POSITION=2:219574956;ESP6500_GTC=214,1833,4456;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002191.3:c.531C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002191.3:p.(A177);ESP6500_MAF=20.4302,11.4389,17.3843;ESP6500_TAC=2261,10745	GT:AD:DP:GQ:PL	0/1:61,41:102:99:1046,0,1704
chr2	219597918	rs681747	G	T	1029.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs681747;dbSNPBuildID=83;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|1/25|c.-32G>T||||||,T|5_prime_UTR_variant|MODIFIER|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|1/25|c.-32G>T|||||202|;p3_1000G_AA=G|||;p3_1000G_AC=4173;p3_1000G_AF=0.833267;p3_1000G_AFR_AF=0.4448;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=15961;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220462640;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2148,1772;ESP6500_AA_GTC=605,938,417;ESP6500_CDS_SIZES=NM_052902.2:3300;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=70;ESP6500_EA_AC=8034,216;ESP6500_EA_GTC=3912,210,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052902.2:missense;ESP6500_GL=STK11IP;ESP6500_GRCh38_POSITION=2:219597918;ESP6500_GS=91;ESP6500_GTC=4517,1148,420;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_052902.2:c.2G>T;ESP6500_HGVS_PROTEIN_VAR=NM_052902.2:p.(R1M);ESP6500_MAF=2.6182,45.2041,16.3353;ESP6500_TAC=10182,1988	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1058,96,0
chr2	219601477	rs620698	G	T	1307.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs620698;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|3/24|c.267+37G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4030;p3_1000G_AF=0.804712;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=21547;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220466199;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1887,2157;ESP6500_AA_GTC=441,1005,576;ESP6500_CDS_SIZES=NM_052902.2:3300;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=22;ESP6500_EA_AC=8148,224;ESP6500_EA_GTC=3965,218,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052902.2:intron;ESP6500_GL=STK11IP;ESP6500_GRCh38_POSITION=2:219601477;ESP6500_GTC=4406,1223,579;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_052902.2:c.300+37G>T;ESP6500_MAF=2.6756,46.6617,19.1769;ESP6500_TAC=10035,2381	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1336,120,0
chr2	219601622	rs11405075	G	GT	235.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.64;SOR=1.022;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11405075;dbSNPBuildID=126;ANN=GT|splice_region_variant&intron_variant|LOW|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|3/24|c.268-4dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2963;p3_1000G_AF=0.591653;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=21619;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.6531;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220466344;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:35:273,35,0
chr2	219606394	rs633200	C	G	2350.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=0.898;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs633200;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|10/24|c.946-82C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4469;p3_1000G_AF=0.892372;p3_1000G_AFR_AF=0.6573;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=20338;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9672;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220471116;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2379,219,0
chr2	219607874	rs630063	G	T	447.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs630063;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|13/24|c.1220-173G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4162;p3_1000G_AF=0.83107;p3_1000G_AFR_AF=0.388;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=15591;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220472596;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:476,39,0
chr2	219608633	rs673951	G	A	550.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-1.236;SOR=0.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs673951;dbSNPBuildID=83;ANN=A|missense_variant|MODERATE|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|15/25|c.1654G>A|p.Val552Ile|1753/3624|1654/3267|552/1088||;p3_1000G_AA=G|||;p3_1000G_AC=1755;p3_1000G_AF=0.350439;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.3919;p3_1000G_AN=5008;p3_1000G_DP=17351;p3_1000G_EAS_AF=0.6825;p3_1000G_EUR_AF=0.3598;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220473355;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4059;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=292,3702;ESP6500_AA_GTC=11,270,1716;ESP6500_CDS_SIZES=NM_052902.2:3300;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=55;ESP6500_EA_AC=2801,5485;ESP6500_EA_GTC=461,1879,1803;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052902.2:missense;ESP6500_GL=STK11IP;ESP6500_GRCh38_POSITION=2:219608633;ESP6500_GS=29;ESP6500_GTC=472,2149,3519;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_052902.2:c.1687G>A;ESP6500_HGVS_PROTEIN_VAR=NM_052902.2:p.(V563I);ESP6500_MAF=33.804,7.311,25.1873;ESP6500_PH=benign:0.394;ESP6500_TAC=3093,9187	GT:AD:DP:GQ:PL	0/1:29,25:54:99:579,0,649
chr2	219610264	rs584006	T	C	118.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs584006;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|17/24|c.2104+724T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4812;p3_1000G_AF=0.960863;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=13570;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220474986;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:146,12,0
chr2	219611721	rs627530	C	T	2692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=89;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=1.312;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs627530;dbSNPBuildID=83;ANN=T|missense_variant|MODERATE|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|18/25|c.2222C>T|p.Ser741Phe|2321/3624|2222/3267|741/1088||;p3_1000G_AA=C|||;p3_1000G_AC=4202;p3_1000G_AF=0.839058;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=18935;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220476443;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2387,1795;ESP6500_AA_GTC=675,1037,379;ESP6500_CDS_SIZES=NM_052902.2:3300;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=64;ESP6500_EA_AC=8199,225;ESP6500_EA_GTC=3990,219,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_052902.2:missense;ESP6500_GL=STK11IP;ESP6500_GRCh38_POSITION=2:219611721;ESP6500_GS=155;ESP6500_GTC=4665,1256,382;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_052902.2:c.2255C>T;ESP6500_HGVS_PROTEIN_VAR=NM_052902.2:p.(S752F);ESP6500_MAF=2.6709,42.922,16.0241;ESP6500_PH=benign:0.004;ESP6500_TAC=10586,2020	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2721,264,0
chr2	219611923	rs581547	T	C	1818.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs581547;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|18/24|c.2336-32T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4343;p3_1000G_AF=0.867212;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=19128;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220476645;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2588,1558;ESP6500_AA_GTC=792,1004,277;ESP6500_CDS_SIZES=NM_052902.2:3300;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=24;ESP6500_EA_AC=8374,14;ESP6500_EA_GTC=4180,14,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052902.2:intron;ESP6500_GL=STK11IP;ESP6500_GRCh38_POSITION=2:219611923;ESP6500_GTC=4972,1018,277;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052902.2:c.2369-32T>C;ESP6500_MAF=0.1669,37.5784,12.5419;ESP6500_TAC=10962,1572	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1847,174,0
chr2	219614590	rs624773	T	C	967.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs624773;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|23/24|c.2869+44T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4904;p3_1000G_AF=0.979233;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=18894;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220479312;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3863,301;ESP6500_AA_GTC=1793,277,12;ESP6500_CDS_SIZES=NM_052902.2:3300;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=57;ESP6500_EA_AC=8452,2;ESP6500_EA_GTC=4225,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052902.2:intron;ESP6500_GL=STK11IP;ESP6500_GRCh38_POSITION=2:219614590;ESP6500_GTC=6018,279,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_052902.2:c.2902+44T>C;ESP6500_MAF=0.0237,7.2286,2.4013;ESP6500_TAC=12315,303	GT:AD:DP:GQ:PL	1/1:0,33:33:99:996,99,0
chr2	219615971	rs665845	G	C	305.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs665845;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|STK11IP|STK11IP|transcript|NM_052902.3|protein_coding|24/24|c.3118-73G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4859;p3_1000G_AF=0.970248;p3_1000G_AFR_AF=0.8926;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=17895;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220480693;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:334,27,0
chr2	219629396	rs597306	A	C	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.61;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs597306;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|SLC4A3|SLC4A3|transcript|NM_001326559.1|protein_coding|4/23|c.470A>C|p.His157Pro|739/4301|470/3780|157/1259||,C|missense_variant|MODERATE|SLC4A3|SLC4A3|transcript|NM_005070.3|protein_coding|4/23|c.470A>C|p.His157Pro|739/4220|470/3699|157/1232||,C|missense_variant|MODERATE|SLC4A3|SLC4A3|transcript|NM_201574.2|protein_coding|4/23|c.470A>C|p.His157Pro|679/4241|470/3780|157/1259||,C|non_coding_transcript_exon_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NR_048551.1|pseudogene|4/23|n.739A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4781;p3_1000G_AF=0.954673;p3_1000G_AFR_AF=0.8374;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=14553;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220494118;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3750,652;ESP6500_AA_GTC=1603,544,54;ESP6500_CDS_SIZES=NM_201574.2:3780,NM_005070.3:3699;ESP6500_CG=4.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=27;ESP6500_EA_AC=8584,8;ESP6500_EA_GTC=4288,8,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_201574.2:missense,NM_005070.3:missense;ESP6500_GL=SLC4A3;ESP6500_GRCh38_POSITION=2:219629396;ESP6500_GS=77,77;ESP6500_GTC=5891,552,54;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_201574.2:c.470A>C,NM_005070.3:c.470A>C;ESP6500_HGVS_PROTEIN_VAR=NM_201574.2:p.(H157P),NM_005070.3:p.(H157P);ESP6500_MAF=0.0931,14.8114,5.0793;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12334,660	GT:AD:DP:GQ:PL	1/1:0,22:22:66:873,66,0
chr2	219630445	rs612078	A	C	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.087;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.906;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.164;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs612078;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_001326559.1|protein_coding|6/22|c.892+93A>C||||||,C|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_005070.3|protein_coding|6/22|c.811+93A>C||||||,C|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_201574.2|protein_coding|6/22|c.892+93A>C||||||,C|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NR_048551.1|pseudogene|6/22|n.1080+93A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4732;p3_1000G_AF=0.944888;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=16260;p3_1000G_EAS_AF=0.9246;p3_1000G_EUR_AF=0.9831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220495167;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,13:25:99:0|1:219630445_A_C:341,0,364
chr2	219635599	rs2305055	C	G	561.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.306;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.61;ReadPosRankSum=-2.448;SOR=0.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305055;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_001326559.1|protein_coding|13/22|c.2054-74C>G||||||,G|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_005070.3|protein_coding|13/22|c.1973-74C>G||||||,G|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_201574.2|protein_coding|13/22|c.2054-74C>G||||||,G|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NR_048551.1|pseudogene|13/22|n.2267-74C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1166;p3_1000G_AF=0.232827;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=15665;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.2217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220500321;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,19:26:99:590,0,166
chr2	219635704	rs639214	A	G	615.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.41;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs639214;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|SLC4A3|SLC4A3|transcript|NM_001326559.1|protein_coding|14/23|c.2085A>G|p.Ala695Ala|2354/4301|2085/3780|695/1259||,G|synonymous_variant|LOW|SLC4A3|SLC4A3|transcript|NM_005070.3|protein_coding|14/23|c.2004A>G|p.Ala668Ala|2273/4220|2004/3699|668/1232||,G|synonymous_variant|LOW|SLC4A3|SLC4A3|transcript|NM_201574.2|protein_coding|14/23|c.2085A>G|p.Ala695Ala|2294/4241|2085/3780|695/1259||,G|non_coding_transcript_exon_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NR_048551.1|pseudogene|14/23|n.2298A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4539;p3_1000G_AF=0.90635;p3_1000G_AFR_AF=0.6944;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=15754;p3_1000G_EAS_AF=0.9921;p3_1000G_EUR_AF=0.9811;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220500426;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9826;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3183,1223;ESP6500_AA_GTC=1140,903,160;ESP6500_CDS_SIZES=NM_201574.2:3780,NM_005070.3:3699;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=30;ESP6500_EA_AC=8466,134;ESP6500_EA_GTC=4167,132,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201574.2:coding-synonymous,NM_005070.3:coding-synonymous;ESP6500_GL=SLC4A3;ESP6500_GRCh38_POSITION=2:219635704;ESP6500_GTC=5307,1035,161;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_201574.2:c.2085A>G,NM_005070.3:c.2004A>G;ESP6500_HGVS_PROTEIN_VAR=NM_201574.2:p.(A695),NM_005070.3:p.(A668);ESP6500_MAF=1.5581,27.7576,10.4336;ESP6500_TAC=11649,1357	GT:AD:DP:GQ:PL	1/1:0,19:19:57:644,57,0
chr2	219636108	rs35394392	G	C	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35394392;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_001326559.1|protein_coding|14/22|c.2273-194G>C||||||,C|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_005070.3|protein_coding|14/22|c.2192-194G>C||||||,C|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NM_201574.2|protein_coding|14/22|c.2273-194G>C||||||,C|intron_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NR_048551.1|pseudogene|14/22|n.2486-194G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1104;p3_1000G_AF=0.220447;p3_1000G_AFR_AF=0.1989;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=16794;p3_1000G_EAS_AF=0.1825;p3_1000G_EUR_AF=0.2207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220500830;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.318;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:69:69,0,153
chr2	219637645	rs635311	A	C	498.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.5;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=5.93;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.349;SOR=1.946;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs635311;dbSNPBuildID=83;ANN=C|missense_variant|MODERATE|SLC4A3|SLC4A3|transcript|NM_001326559.1|protein_coding|17/23|c.2681A>C|p.Asp894Ala|2950/4301|2681/3780|894/1259||,C|missense_variant|MODERATE|SLC4A3|SLC4A3|transcript|NM_005070.3|protein_coding|17/23|c.2600A>C|p.Asp867Ala|2869/4220|2600/3699|867/1232||,C|missense_variant|MODERATE|SLC4A3|SLC4A3|transcript|NM_201574.2|protein_coding|17/23|c.2681A>C|p.Asp894Ala|2890/4241|2681/3780|894/1259||,C|non_coding_transcript_exon_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NR_048551.1|pseudogene|17/23|n.2894A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3393;p3_1000G_AF=0.677516;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=16266;p3_1000G_EAS_AF=0.8065;p3_1000G_EUR_AF=0.7624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220502367;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6616;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2222,2184;ESP6500_AA_AGE=586.9+/-386.6;ESP6500_AA_GTC=565,1092,546;ESP6500_CDS_SIZES=NM_201574.2:3780,NM_005070.3:3699;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=39;ESP6500_EA_AC=6574,2026;ESP6500_EA_AGE=716.8+/-406.1;ESP6500_EA_GTC=2523,1528,249;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201574.2:missense,NM_005070.3:missense;ESP6500_GL=SLC4A3;ESP6500_GRCh38_POSITION=2:219637645;ESP6500_GS=126,126;ESP6500_GTC=3088,2620,795;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_201574.2:c.2681A>C,NM_005070.3:c.2600A>C;ESP6500_HGVS_PROTEIN_VAR=NM_201574.2:p.(D894A),NM_005070.3:p.(D867A);ESP6500_MAF=23.5581,49.5688,32.3697;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8796,4210	GT:AD:DP:GQ:PL	0/1:13,17:30:99:527,0,301
chr2	219640543	rs684428	T	C	3025.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.85;SOR=0.896;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs684428;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|SLC4A3|SLC4A3|transcript|NM_001326559.1|protein_coding|21/23|c.3472T>C|p.Leu1158Leu|3741/4301|3472/3780|1158/1259||,C|synonymous_variant|LOW|SLC4A3|SLC4A3|transcript|NM_005070.3|protein_coding|21/23|c.3391T>C|p.Leu1131Leu|3660/4220|3391/3699|1131/1232||,C|synonymous_variant|LOW|SLC4A3|SLC4A3|transcript|NM_201574.2|protein_coding|21/23|c.3472T>C|p.Leu1158Leu|3681/4241|3472/3780|1158/1259||,C|non_coding_transcript_exon_variant|MODIFIER|SLC4A3|SLC4A3|transcript|NR_048551.1|pseudogene|21/23|n.3685T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3460;p3_1000G_AF=0.690895;p3_1000G_AFR_AF=0.4251;p3_1000G_AMR_AF=0.8084;p3_1000G_AN=5008;p3_1000G_DP=16997;p3_1000G_EAS_AF=0.8105;p3_1000G_EUR_AF=0.8191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=220505265;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7117;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2110,2296;ESP6500_AA_AGE=576.2+/-384.2;ESP6500_AA_GTC=503,1104,596;ESP6500_CDS_SIZES=NM_201574.2:3780,NM_005070.3:3699;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=155;ESP6500_EA_AC=7202,1398;ESP6500_EA_AGE=753.7+/-407.5;ESP6500_EA_GTC=3030,1142,128;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_201574.2:coding-synonymous,NM_005070.3:coding-synonymous;ESP6500_GL=SLC4A3;ESP6500_GRCh38_POSITION=2:219640543;ESP6500_GTC=3533,2246,724;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_201574.2:c.3472T>C,NM_005070.3:c.3391T>C;ESP6500_HGVS_PROTEIN_VAR=NM_201574.2:p.(L1158),NM_005070.3:p.(L1131);ESP6500_MAF=16.2558,47.8892,28.4023;ESP6500_TAC=9312,3694	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3054,284,0
chr2	221426182	rs2303901	A	G	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.666;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=1.73;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303901;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_001304536.1|protein_coding|17/18|c.2847-40T>C||||||,G|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_001304537.1|protein_coding|15/16|c.2694-40T>C||||||,G|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_004438.4|protein_coding|16/17|c.2847-40T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18034;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.4751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222290902;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3916;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3462,944;ESP6500_AA_AGE=343.1+/-307.5;ESP6500_AA_GTC=1356,750,97;ESP6500_CDS_SIZES=NM_004438.3:2961;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=4192,4408;ESP6500_EA_AGE=578.1+/-390.7;ESP6500_EA_GTC=1044,2104,1152;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004438.3:intron;ESP6500_GL=EPHA4;ESP6500_GRCh38_POSITION=2:221426182;ESP6500_GTC=2400,2854,1249;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004438.3:c.2847-40T>C;ESP6500_MAF=48.7442,21.4253,41.1502;ESP6500_TAC=7654,5352	GT:AD:DP:GQ:PL	0/1:10,9:19:99:210,0,273
chr2	221436637	rs3213844	T	C	1592.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=1.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3213844;dbSNPBuildID=106;ANN=C|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_001304536.1|protein_coding|13/18|c.2137-29A>G||||||,C|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_001304537.1|protein_coding|11/16|c.1984-29A>G||||||,C|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_004438.4|protein_coding|12/17|c.2137-29A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2752;p3_1000G_AF=0.549521;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=20595;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222301357;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1690,2716;ESP6500_AA_AGE=651.0+/-399.1;ESP6500_AA_GTC=329,1032,842;ESP6500_CDS_SIZES=NM_004438.3:2961;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=60;ESP6500_EA_AC=6167,2433;ESP6500_EA_AGE=399.0+/-346.3;ESP6500_EA_GTC=2201,1765,334;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004438.3:intron;ESP6500_GL=EPHA4;ESP6500_GRCh38_POSITION=2:221436637;ESP6500_GTC=2530,2797,1176;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004438.3:c.2137-29A>G;ESP6500_MAF=28.2907,38.3568,39.5894;ESP6500_TAC=7857,5149	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1621,141,0
chr2	221455707	rs2288627	G	A	2213.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288627;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_001304536.1|protein_coding|8/18|c.1604-49C>T||||||,A|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_001304537.1|protein_coding|6/16|c.1451-49C>T||||||,A|intron_variant|MODIFIER|EPHA4|EPHA4|transcript|NM_004438.4|protein_coding|7/17|c.1604-49C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3423;p3_1000G_AF=0.683506;p3_1000G_AFR_AF=0.6536;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=16831;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.7197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=222320427;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7188;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3030,1374;ESP6500_AA_GTC=1049,932,221;ESP6500_CDS_SIZES=NM_004438.3:2961;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=6304,2292;ESP6500_EA_GTC=2295,1714,289;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004438.3:intron;ESP6500_GL=EPHA4;ESP6500_GRCh38_POSITION=2:221455707;ESP6500_GTC=3344,2646,510;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004438.3:c.1604-49C>T;ESP6500_MAF=26.6636,31.1989,28.2;ESP6500_TAC=9334,3666	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2242,210,0
chr2	222201151	rs3731858	C	G	460.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.814;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.142;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.829;SOR=0.867;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731858;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|PAX3|PAX3|transcript|NM_181459.3|protein_coding|10/10|c.*23G>C|||||23|,G|3_prime_UTR_variant|MODIFIER|PAX3|PAX3|transcript|NM_001127366.2|protein_coding|9/9|c.*257G>C|||||257|,G|3_prime_UTR_variant|MODIFIER|PAX3|PAX3|transcript|NM_181458.3|protein_coding|9/9|c.*257G>C|||||257|,G|3_prime_UTR_variant|MODIFIER|PAX3|PAX3|transcript|NM_181460.3|protein_coding|9/9|c.*70G>C|||||70|,G|3_prime_UTR_variant|MODIFIER|PAX3|PAX3|transcript|NM_181461.3|protein_coding|8/8|c.*253G>C|||||253|,G|downstream_gene_variant|MODIFIER|PAX3|PAX3|transcript|NM_181457.3|protein_coding||c.*773G>C|||||562|;p3_1000G_AA=C|||;p3_1000G_AC=868;p3_1000G_AF=0.173323;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=19695;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.1809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223065870;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=102,2552;ESP6500_AA_GTC=1,100,1226;ESP6500_CDS_SIZES=NM_181461.3:1212,NM_181460.3:1224,NM_181459.3:1518,NM_181458.3:1455,NM_001127366.2:1452;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=171;ESP6500_EA_AC=939,3679;ESP6500_EA_GTC=100,739,1470;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181461.3:utr-3,NM_181460.3:utr-3,NM_181459.3:utr-3,NM_181458.3:utr-3,NM_001127366.2:utr-3;ESP6500_GL=PAX3;ESP6500_GRCh38_POSITION=2:222201151;ESP6500_GTC=101,839,2696;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_181461.3:c.*253G>C,NM_181460.3:c.*70G>C,NM_181459.3:c.*23G>C,NM_181458.3:c.*257G>C,NM_001127366.2:c.*257G>C;ESP6500_MAF=20.3335,3.8433,14.3152;ESP6500_TAC=1041,6231	GT:AD:DP:GQ:PL	0/1:31,18:49:99:489,0,885
chr2	222201817	rs368725878	CA	C	56.19	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.14;SOR=0.859;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs368725878;dbSNPBuildID=138;ANN=C|3_prime_UTR_variant|MODIFIER|PAX3|PAX3|transcript|NM_181457.3|protein_coding|8/8|c.*106delT|||||106|,C|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181459.3|protein_coding|8/9|c.1420+126delT||||||,C|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_001127366.2|protein_coding|8/8|c.1417+126delT||||||,C|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181458.3|protein_coding|8/8|c.1420+126delT||||||,C|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181460.3|protein_coding|7/8|c.1174-376delT||||||,C|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181461.3|protein_coding|7/7|c.1174-376delT||||||	GT:AD:DP:GQ:PL	0/1:2,5:7:44:88,0,44
chr2	222220374	rs923094012	C	T	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.782;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.087;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNPBuildID=150;ANN=T|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181459.3|protein_coding|6/9|c.959-20G>A||||||,T|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_001127366.2|protein_coding|6/8|c.956-20G>A||||||,T|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181458.3|protein_coding|6/8|c.959-20G>A||||||,T|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181460.3|protein_coding|6/8|c.959-20G>A||||||,T|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181461.3|protein_coding|6/7|c.959-20G>A||||||,T|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181457.3|protein_coding|6/7|c.959-20G>A||||||	GT:AD:DP:GQ:PL	0/1:8,7:15:99:204,0,304
chr2	222221256	rs199952493	C	T	166.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.271;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.25;ReadPosRankSum=1.14;SOR=0.715;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199952493;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181459.3|protein_coding|6/10|c.924G>A|p.Ser308Ser|1305/3186|924/1518|308/505||,T|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_001127366.2|protein_coding|6/9|c.921G>A|p.Ser307Ser|1302/3354|921/1452|307/483||,T|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181458.3|protein_coding|6/9|c.924G>A|p.Ser308Ser|1305/3357|924/1455|308/484||,T|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181460.3|protein_coding|6/9|c.924G>A|p.Ser308Ser|1305/2939|924/1224|308/407||,T|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181461.3|protein_coding|6/8|c.924G>A|p.Ser308Ser|1305/3110|924/1212|308/403||,T|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181457.3|protein_coding|6/8|c.924G>A|p.Ser308Ser|1305/2032|924/1440|308/479||;p3_1000G_AA=C|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16107;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223085975;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,9:23:99:195,0,329
chr2	222293933	rs10712898;rs397987956	GT	G	594.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=1.061;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10712898;dbSNPBuildID=131,138;ANN=G|3_prime_UTR_variant|MODIFIER|PAX3|PAX3|transcript|NM_000438.5|protein_coding|4/4|c.*171delA|||||171|,G|upstream_gene_variant|MODIFIER|CCDC140|CCDC140|transcript|NM_153038.1|protein_coding||c.-9969delT|||||4213|,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181459.3|protein_coding|4/9|c.586+233delA||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_001127366.2|protein_coding|4/8|c.583+233delA||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181458.3|protein_coding|4/8|c.586+233delA||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181460.3|protein_coding|4/8|c.586+233delA||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181461.3|protein_coding|4/7|c.586+233delA||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181457.3|protein_coding|4/7|c.586+233delA||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_013942.4|protein_coding|4/4|c.587-177delA||||||;p3_1000G_AA=T|TT|T|insertion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19753;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223158652;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,17:17:51:632,51,0
chr2	222296910	rs45518739	C	A	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.842;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=5.697;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.335;SOR=2.599;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45518739;dbSNPBuildID=127;ANN=A|upstream_gene_variant|MODIFIER|CCDC140|CCDC140|transcript|NM_153038.1|protein_coding||c.-6993C>A|||||1237|,A|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181459.3|protein_coding|2/9|c.321+68G>T||||||,A|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_001127366.2|protein_coding|2/8|c.321+68G>T||||||,A|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181458.3|protein_coding|2/8|c.321+68G>T||||||,A|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181460.3|protein_coding|2/8|c.321+68G>T||||||,A|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181461.3|protein_coding|2/7|c.321+68G>T||||||,A|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181457.3|protein_coding|2/7|c.321+68G>T||||||,A|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_000438.5|protein_coding|2/3|c.321+68G>T||||||,A|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_013942.4|protein_coding|2/4|c.321+68G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=18;p3_1000G_AF=0.00359425;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16090;p3_1000G_EAS_AF=0.0179;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223161629;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,11:31:99:295,0,618
chr2	222297170	rs12623857;195432	A	G	1411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.82;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12623857;dbSNPBuildID=120;ANN=G|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181459.3|protein_coding|2/10|c.129T>C|p.Gly43Gly|510/3186|129/1518|43/505||,G|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_001127366.2|protein_coding|2/9|c.129T>C|p.Gly43Gly|510/3354|129/1452|43/483||,G|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181458.3|protein_coding|2/9|c.129T>C|p.Gly43Gly|510/3357|129/1455|43/484||,G|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181460.3|protein_coding|2/9|c.129T>C|p.Gly43Gly|510/2939|129/1224|43/407||,G|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181461.3|protein_coding|2/8|c.129T>C|p.Gly43Gly|510/3110|129/1212|43/403||,G|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_181457.3|protein_coding|2/8|c.129T>C|p.Gly43Gly|510/2032|129/1440|43/479||,G|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_000438.5|protein_coding|2/4|c.129T>C|p.Gly43Gly|510/1504|129/648|43/215||,G|synonymous_variant|LOW|PAX3|PAX3|transcript|NM_013942.4|protein_coding|2/5|c.129T>C|p.Gly43Gly|510/1095|129/621|43/206||,G|upstream_gene_variant|MODIFIER|CCDC140|CCDC140|transcript|NM_153038.1|protein_coding||c.-6733A>G|||||977|;p3_1000G_AA=G|||;p3_1000G_AC=4529;p3_1000G_AF=0.904353;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=15301;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8459;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223161889;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9601;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3714,682;ESP6500_AA_GTC=1574,566,58;ESP6500_CDS_SIZES=NM_181461.3:1212,NM_181460.3:1224,NM_181459.3:1518,NM_181458.3:1455,NM_181457.3:1440,NM_013942.4:621,NM_001127366.2:1452,NM_000438.5:648;ESP6500_CG=-4.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=15;ESP6500_EA_AC=7279,1311;ESP6500_EA_GTC=3088,1103,104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181461.3:coding-synonymous,NM_181460.3:coding-synonymous,NM_181459.3:coding-synonymous,NM_181458.3:coding-synonymous,NM_181457.3:coding-synonymous,NM_013942.4:coding-synonymous,NM_001127366.2:coding-synonymous,NM_000438.5:coding-synonymous;ESP6500_GL=PAX3;ESP6500_GRCh38_POSITION=2:222297170;ESP6500_GTC=4662,1669,162;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181461.3:c.129T>C,NM_181460.3:c.129T>C,NM_181459.3:c.129T>C,NM_181458.3:c.129T>C,NM_181457.3:c.129T>C,NM_013942.4:c.129T>C,NM_001127366.2:c.129T>C,NM_000438.5:c.129T>C;ESP6500_HGVS_PROTEIN_VAR=NM_181461.3:p.(G43),NM_181460.3:p.(G43),NM_181459.3:p.(G43),NM_181458.3:p.(G43),NM_181457.3:p.(G43),NM_013942.4:p.(G43),NM_001127366.2:p.(G43),NM_000438.5:p.(G43);ESP6500_MAF=15.2619,15.5141,15.3473;ESP6500_TAC=10993,1993;CLINVAR_ALLELEID=192593;CLINVAR_CLNDISDB=MedGen:C1852510,OMIM:122880,Orphanet:ORPHA1529|MedGen:C3266898,Orphanet:ORPHA3440,SNOMED_CT:47434006|MedGen:CN169374;CLINVAR_CLNDN=Craniofacial_deafness_hand_syndrome|Waardenburg_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.222297170A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28024;CLINVAR_GENEINFO=PAX3:5077;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12623857	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1440,120,0
chr2	222297305	rs6754024	T	G	473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.24;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6754024;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|CCDC140|CCDC140|transcript|NM_153038.1|protein_coding||c.-6598T>G|||||842|,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181459.3|protein_coding|1/9|c.86-92A>C||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_001127366.2|protein_coding|1/8|c.86-92A>C||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181458.3|protein_coding|1/8|c.86-92A>C||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181460.3|protein_coding|1/8|c.86-92A>C||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181461.3|protein_coding|1/7|c.86-92A>C||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_181457.3|protein_coding|1/7|c.86-92A>C||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_000438.5|protein_coding|1/3|c.86-92A>C||||||,G|intron_variant|MODIFIER|PAX3|PAX3|transcript|NM_013942.4|protein_coding|1/4|c.86-92A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4527;p3_1000G_AF=0.903954;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.9063;p3_1000G_AN=5008;p3_1000G_DP=20315;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8459;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223162024;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:502,36,0
chr2	222304431	rs10210219	G	T	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.24;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10210219;dbSNPBuildID=119;ANN=T|3_prime_UTR_variant|MODIFIER|CCDC140|CCDC140|transcript|NM_153038.1|protein_coding|2/2|c.*37G>T|||||37|;p3_1000G_AA=G|||;p3_1000G_AC=776;p3_1000G_AF=0.154952;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=15908;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.1471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223169150;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=239,2533;ESP6500_AA_GTC=3,233,1150;ESP6500_CDS_SIZES=NM_153038.1:492;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=2;ESP6500_EA_AC=531,5559;ESP6500_EA_GTC=11,509,2525;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153038.1:utr-3;ESP6500_GL=CCDC140;ESP6500_GRCh38_POSITION=2:222304431;ESP6500_GTC=14,742,3675;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_153038.1:c.*37G>T;ESP6500_MAF=8.7192,8.6219,8.6888;ESP6500_TAC=770,8092	GT:AD:DP:GQ:PL	0/1:4,4:8:99:125,0,110
chr2	222558643	rs4674664	A	G	3655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=119;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.72;SOR=0.779;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4674664;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|SGPP2|SGPP2|transcript|NM_152386.3|protein_coding|5/5|c.945A>G|p.Pro315Pro|1041/5020|945/1200|315/399||,G|synonymous_variant|LOW|SGPP2|SGPP2|transcript|NM_001320834.1|protein_coding|5/5|c.561A>G|p.Pro187Pro|753/4732|561/816|187/271||,G|synonymous_variant|LOW|SGPP2|SGPP2|transcript|NM_001320833.1|protein_coding|6/6|c.561A>G|p.Pro187Pro|1184/5163|561/816|187/271||;p3_1000G_AA=G|||;p3_1000G_AC=4396;p3_1000G_AF=0.877796;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=21138;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223423362;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3119,1287;ESP6500_AA_AGE=437.0+/-344.8;ESP6500_AA_GTC=1092,935,176;ESP6500_CDS_SIZES=NM_152386.2:1200;ESP6500_CG=-3.4;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=99;ESP6500_EA_AC=8025,575;ESP6500_EA_AGE=154.3+/-208.6;ESP6500_EA_GTC=3745,535,20;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152386.2:coding-synonymous;ESP6500_GL=SGPP2;ESP6500_GRCh38_POSITION=2:222558643;ESP6500_GTC=4837,1470,196;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152386.2:c.945A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152386.2:p.(P315);ESP6500_MAF=6.686,29.2102,14.3165;ESP6500_TAC=11144,1862	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3684,357,0
chr2	222571888	rs7185	C	T	982.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=0.749;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7185;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|FARSB|FARSB|transcript|NM_005687.4|protein_coding|17/17|c.1753G>A|p.Val585Ile|2035/2480|1753/1770|585/589||,T|non_coding_transcript_exon_variant|MODIFIER|FARSB|FARSB|transcript|NR_130154.1|pseudogene|18/18|n.2231G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4187;p3_1000G_AF=0.836062;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=17511;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.8767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223436607;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9284;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3012,1394;ESP6500_AA_AGE=458.8+/-352.1;ESP6500_AA_GTC=1023,966,214;ESP6500_CDS_SIZES=NM_005687.3:1770;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=67;ESP6500_EA_AC=7469,1131;ESP6500_EA_AGE=232.9+/-266.4;ESP6500_EA_GTC=3238,993,69;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005687.3:missense;ESP6500_GL=FARSB;ESP6500_GRCh38_POSITION=2:222571888;ESP6500_GS=29;ESP6500_GTC=4261,1959,283;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005687.3:c.1753G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005687.3:p.(V585I);ESP6500_MAF=13.1512,31.6387,19.4141;ESP6500_PH=benign:0.0;ESP6500_TAC=10481,2525	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1011,105,0
chr2	222624530	rs3214770;rs397840009	GT	G	354.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.562;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.899;SOR=0.713;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3214770;dbSNPBuildID=130,138;ANN=G|intron_variant|MODIFIER|FARSB|FARSB|transcript|NM_005687.4|protein_coding|11/16|c.963-52delA||||||,G|intron_variant|MODIFIER|FARSB|FARSB|transcript|NR_130154.1|pseudogene|12/17|n.1441-52delA||||||;p3_1000G_AA=TTT|TTT|TT|deletion;p3_1000G_AC=1147;p3_1000G_AF=0.229034;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=20226;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223489249;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=INDEL;ESP6500_AA_AC=580,3624;ESP6500_AA_GTC=52,476,1574;ESP6500_CDS_SIZES=NM_005687.3:1770;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=27;ESP6500_EA_AC=2972,5258;ESP6500_EA_GTC=541,1890,1684;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005687.3:intron;ESP6500_GL=FARSB;ESP6500_GRCh38_POSITION=2:222624530;ESP6500_GTC=593,2366,3258;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005687.3:c.963-52del1;ESP6500_MAF=36.1118,13.7964,28.5668;ESP6500_TAC=3552,8882	GT:AD:DP:GQ:PL	0/1:11,13:24:99:392,0,319
chr2	222624574	rs2290031	C	T	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.346;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=3.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.264;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290031;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|FARSB|FARSB|transcript|NM_005687.4|protein_coding|11/16|c.963-95G>A||||||,T|intron_variant|MODIFIER|FARSB|FARSB|transcript|NR_130154.1|pseudogene|12/17|n.1441-95G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1208;p3_1000G_AF=0.241214;p3_1000G_AFR_AF=0.1021;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=20625;p3_1000G_EAS_AF=0.2917;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223489293;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,12:22:99:389,0,338
chr2	222628716	rs2019357	G	A	165.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.461;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.245;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2019357;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|FARSB|FARSB|transcript|NM_005687.4|protein_coding|10/16|c.900+121C>T||||||,A|intron_variant|MODIFIER|FARSB|FARSB|transcript|NR_130154.1|pseudogene|11/17|n.1378+121C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3926;p3_1000G_AF=0.783946;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=19016;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.8648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223493435;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:194,0,301
chr2	222656186	rs2166652	G	C	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.572;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.35;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.897;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2166652;dbSNPBuildID=96;ANN=C|5_prime_UTR_variant|MODIFIER|FARSB|FARSB|transcript|NM_005687.4|protein_coding|1/17|c.-113C>G|||||113|,C|non_coding_transcript_exon_variant|MODIFIER|FARSB|FARSB|transcript|NR_130154.1|pseudogene|1/18|n.170C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3921;p3_1000G_AF=0.782947;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.7406;p3_1000G_AN=5008;p3_1000G_DP=20020;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.8638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223520905;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:255,0,330
chr2	222922841	rs11891410	G	A	489.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.517;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=1.21;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11891410;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_004457.3|protein_coding|9/16|c.1080+10G>A||||||,A|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_203372.1|protein_coding|8/15|c.1080+10G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4529;p3_1000G_AF=0.904353;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=19542;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.7893;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223787559;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4069,337;ESP6500_AA_AGE=178.0+/-206.8;ESP6500_AA_GTC=1879,311,13;ESP6500_CDS_SIZES=NM_203372.1:2163,NM_004457.3:2163;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=95;ESP6500_EA_AC=6678,1922;ESP6500_EA_AGE=340.3+/-323.5;ESP6500_EA_GTC=2593,1492,215;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203372.1:intron,NM_004457.3:intron;ESP6500_GL=ACSL3;ESP6500_GRCh38_POSITION=2:222922841;ESP6500_GTC=4472,1803,228;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_203372.1:c.1080+10G>A,NM_004457.3:c.1080+10G>A;ESP6500_MAF=22.3488,7.6487,17.3689;ESP6500_TAC=10747,2259	GT:AD:DP:GQ:PL	0/1:15,19:34:99:518,0,450
chr2	222922973	rs10932978	G	A	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0;SOR=0.991;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10932978;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_004457.3|protein_coding|9/16|c.1081-105G>A||||||,A|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_203372.1|protein_coding|8/15|c.1081-105G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4527;p3_1000G_AF=0.903954;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=17727;p3_1000G_EAS_AF=0.9732;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223787691;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:66:66,0,98
chr2	222924362	rs1866661	C	G	59.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.58;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.6;ReadPosRankSum=-0.828;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1866661;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_004457.3|protein_coding|10/16|c.1153-94C>G||||||,G|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_203372.1|protein_coding|9/15|c.1153-94C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4414;p3_1000G_AF=0.88139;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.8718;p3_1000G_AN=5008;p3_1000G_DP=4230;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.7863;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223789080;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,3:13:88:88,0,350
chr2	222928762	rs1550420	C	T	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.352;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=-0.431;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1550420;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_004457.3|protein_coding|12/16|c.1466-100C>T||||||,T|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_203372.1|protein_coding|11/15|c.1466-100C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4763;p3_1000G_AF=0.951078;p3_1000G_AFR_AF=0.9697;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=17120;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8867;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223793480;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9796;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:79:79,0,192
chr2	222933423	rs6726737	A	C	54.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.122;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=-0.366;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6726737;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_004457.3|protein_coding|15/16|c.1847+143A>C||||||,C|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_203372.1|protein_coding|14/15|c.1847+143A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1508;p3_1000G_AF=0.301118;p3_1000G_AFR_AF=0.2973;p3_1000G_AMR_AF=0.4308;p3_1000G_AN=5008;p3_1000G_DP=20037;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.3419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223798141;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:83:83,0,205
chr2	222934489	rs935030	C	T	681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=2.636;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs935030;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_004457.3|protein_coding|15/16|c.1848-41C>T||||||,T|intron_variant|MODIFIER|ACSL3|ACSL3|transcript|NM_203372.1|protein_coding|14/15|c.1848-41C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20064;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223799207;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4399,1;ESP6500_AA_GTC=2199,1,0;ESP6500_CDS_SIZES=NM_203372.1:2163,NM_004457.3:2163;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=82;ESP6500_EA_AC=8566,26;ESP6500_EA_GTC=4270,26,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203372.1:intron,NM_004457.3:intron;ESP6500_GL=ACSL3;ESP6500_GRCh38_POSITION=2:222934489;ESP6500_GTC=6469,27,0;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_203372.1:c.1848-41C>T,NM_004457.3:c.1848-41C>T;ESP6500_MAF=0.3026,0.0227,0.2078;ESP6500_TAC=12965,27	GT:AD:DP:GQ:PL	1/1:0,21:21:63:710,63,0
chr2	223052911	rs3795886	C	T	384.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.137;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=4.519;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-0.191;SOR=1.335;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3795886;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|KCNE4|KCNE4|transcript|NM_080671.3|protein_coding|2/2|c.234C>T|p.Gly78Gly|449/3175|234/666|78/221||;p3_1000G_AA=C|||;p3_1000G_AC=3631;p3_1000G_AF=0.72504;p3_1000G_AFR_AF=0.7216;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=15814;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.7048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223917629;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8241;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3142,1264;ESP6500_AA_AGE=689.4+/-405.1;ESP6500_AA_GTC=1115,912,176;ESP6500_CDS_SIZES=NM_080671.2:513;ESP6500_CG=4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=56;ESP6500_EA_AC=6022,2578;ESP6500_EA_AGE=673.4+/-403.0;ESP6500_EA_GTC=2118,1786,396;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080671.2:coding-synonymous;ESP6500_GL=KCNE4;ESP6500_GRCh38_POSITION=2:223052911;ESP6500_GTC=3233,2698,572;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080671.2:c.81C>T;ESP6500_HGVS_PROTEIN_VAR=NM_080671.2:p.(G27);ESP6500_MAF=29.9767,28.6882,29.5402;ESP6500_TAC=9164,3842	GT:AD:DP:GQ:PL	0/1:25,17:42:99:413,0,656
chr2	223053094	rs10201907	T	C	994.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.143;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10201907;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|KCNE4|KCNE4|transcript|NM_080671.3|protein_coding|2/2|c.417T>C|p.Pro139Pro|632/3175|417/666|139/221||;p3_1000G_AA=C|||;p3_1000G_AC=4841;p3_1000G_AF=0.966653;p3_1000G_AFR_AF=0.9811;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=15241;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.9364;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223917812;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9509;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4329,77;ESP6500_AA_AGE=65.8+/-103.3;ESP6500_AA_GTC=2127,75,1;ESP6500_CDS_SIZES=NM_080671.2:513;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=46;ESP6500_EA_AC=8126,474;ESP6500_EA_AGE=137.3+/-194.3;ESP6500_EA_GTC=3841,444,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080671.2:coding-synonymous;ESP6500_GL=KCNE4;ESP6500_GRCh38_POSITION=2:223053094;ESP6500_GTC=5968,519,16;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_080671.2:c.264T>C;ESP6500_HGVS_PROTEIN_VAR=NM_080671.2:p.(P88);ESP6500_MAF=5.5116,1.7476,4.2365;ESP6500_TAC=12455,551	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1023,90,0
chr2	223053265	rs12621643	T	G	217.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.04;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12621643;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|KCNE4|KCNE4|transcript|NM_080671.3|protein_coding|2/2|c.588T>G|p.Asp196Glu|803/3175|588/666|196/221||;p3_1000G_AA=T|||;p3_1000G_AC=3360;p3_1000G_AF=0.670927;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.7478;p3_1000G_AN=5008;p3_1000G_DP=16631;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.7068;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223917983;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2352,2054;ESP6500_AA_AGE=579.1+/-384.8;ESP6500_AA_GTC=642,1068,493;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...19684603;ESP6500_CDS_SIZES=NM_080671.2:513;ESP6500_CG=-10.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=6020,2578;ESP6500_EA_AGE=664.8+/-402.2;ESP6500_EA_GTC=2123,1774,402;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080671.2:missense;ESP6500_GL=KCNE4;ESP6500_GRCh38_POSITION=2:223053265;ESP6500_GS=45;ESP6500_GTC=2765,2842,895;ESP6500_GTS=GG,GT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...19684603;ESP6500_HGVS_CDNA_VAR=NM_080671.2:c.435T>G;ESP6500_HGVS_PROTEIN_VAR=NM_080671.2:p.(D145E);ESP6500_MAF=29.9837,46.6182,35.6198;ESP6500_PH=benign:0.0;ESP6500_TAC=8372,4632	GT:AD:DP:GQ:PL	0/1:10,9:19:99:246,0,260
chr2	223053362	rs10189762	C	G	358.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.6;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10189762;dbSNPBuildID=119;ANN=G|3_prime_UTR_variant|MODIFIER|KCNE4|KCNE4|transcript|NM_080671.3|protein_coding|2/2|c.*19C>G|||||19|;p3_1000G_AA=C|||;p3_1000G_AC=4733;p3_1000G_AF=0.945088;p3_1000G_AFR_AF=0.9236;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=18201;p3_1000G_EAS_AF=0.9911;p3_1000G_EUR_AF=0.9324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=223918080;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9305;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3837,243;ESP6500_AA_GTC=1806,225,9;ESP6500_CDS_SIZES=NM_080671.2:513;ESP6500_CG=3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=13;ESP6500_EA_AC=7861,507;ESP6500_EA_GTC=3698,465,21;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080671.2:utr-3;ESP6500_GL=KCNE4;ESP6500_GRCh38_POSITION=2:223053362;ESP6500_GTC=5504,690,30;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_080671.2:c.*19C>G;ESP6500_MAF=6.0588,5.9559,6.0251;ESP6500_TAC=11698,750	GT:AD:DP:GQ:PL	1/1:0,13:13:39:387,39,0
chr2	223765134	rs11455542;rs397797814	C	CT	500.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.893;SOR=0.963;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11455542;dbSNPBuildID=137,138;ANN=CT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NM_001039569.1|protein_coding|4/4|c.429+78dupA||||||,CT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110905.1|pseudogene|5/5|n.620+78dupA||||||,CT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110906.1|pseudogene|3/3|n.472+78dupA||||||;p3_1000G_AA=TT|T|TT|deletion;p3_1000G_AC=1505;p3_1000G_AF=0.300519;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=18892;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224629851;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1902;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:14,17:31:99:538,0,431
chr2	223765159	rs10644138;rs202160898	C	CCAT	1289.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.64;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10644138;dbSNPBuildID=135;ANN=CCAT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NM_001039569.1|protein_coding|4/4|c.429+51_429+53dupATG||||||,CCAT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110905.1|pseudogene|5/5|n.620+51_620+53dupATG||||||,CCAT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110906.1|pseudogene|3/3|n.472+51_472+53dupATG||||||;p3_1000G_AC=1352;p3_1000G_AF=0.269968;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=22801;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224629876;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/0:0,14:14:99:1327,689,637
chr2	223765159	rs10644138;rs202160898	C	CCATCAT	1289.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=26.64;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10644138;dbSNPBuildID=135;ANN=CCATCAT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NM_001039569.1|protein_coding|4/4|c.429+48_429+53dupATGATG||||||,CCATCAT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110905.1|pseudogene|5/5|n.620+48_620+53dupATGATG||||||,CCATCAT|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110906.1|pseudogene|3/3|n.472+48_472+53dupATGATG||||||;p3_1000G_AC=1631;p3_1000G_AF=0.325679;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=22801;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.4165;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224629876;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:0,17:17:99:1327,584,531
chr2	223773250	rs16865186	A	G	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-0.549;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16865186;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NM_001039569.1|protein_coding|3/4|c.291+2651T>C||||||,G|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110905.1|pseudogene|4/5|n.482+63T>C||||||,G|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110906.1|pseudogene|2/3|n.334+4441T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1994;p3_1000G_AF=0.398163;p3_1000G_AFR_AF=0.6142;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=16499;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224637967;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:185,0,130
chr2	223773499	rs10933015	G	T	36.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10933015;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NM_001039569.1|protein_coding|3/4|c.291+2402C>A||||||,T|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110905.1|pseudogene|3/5|n.444-148C>A||||||,T|intron_variant|MODIFIER|AP1S3|AP1S3|transcript|NR_110906.1|pseudogene|2/3|n.334+4192C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1994;p3_1000G_AF=0.398163;p3_1000G_AFR_AF=0.6142;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=18477;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.0895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224638216;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:33:65,0,33
chr2	223878874	rs602675	C	T	249.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.66;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs602675;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|WDFY1|WDFY1|transcript|NM_020830.4|protein_coding|11/11|c.1174-144G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4362;p3_1000G_AF=0.871006;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=19953;p3_1000G_EAS_AF=0.8323;p3_1000G_EUR_AF=0.9423;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224743591;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:278,21,0
chr2	223894189	rs625150	C	T	2625.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=81;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=1.416;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs625150;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|WDFY1|WDFY1|transcript|NM_020830.4|protein_coding|8/11|c.831+45G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4558;p3_1000G_AF=0.910144;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=20254;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.9433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224758906;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3987,419;ESP6500_AA_AGE=199.4+/-223.0;ESP6500_AA_GTC=1811,365,27;ESP6500_CDS_SIZES=NM_020830.3:1233;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=71;ESP6500_EA_AC=8222,378;ESP6500_EA_AGE=122.9+/-181.8;ESP6500_EA_GTC=3930,362,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020830.3:intron;ESP6500_GL=WDFY1;ESP6500_GRCh38_POSITION=2:223894189;ESP6500_GTC=5741,727,35;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020830.3:c.831+45G>A;ESP6500_MAF=4.3953,9.5098,6.1279;ESP6500_TAC=12209,797	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2654,243,0
chr2	223899099	rs530065	C	T	1329.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.92;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs530065;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|WDFY1|WDFY1|transcript|NM_020830.4|protein_coding|5/11|c.486-29G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=21331;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.9433;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224763816;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3987,419;ESP6500_AA_AGE=787.7+/-414.9;ESP6500_AA_GTC=1811,365,27;ESP6500_CDS_SIZES=NM_020830.3:1233;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=68;ESP6500_EA_AC=8197,403;ESP6500_EA_AGE=801.0+/-407.4;ESP6500_EA_GTC=3907,383,10;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020830.3:intron;ESP6500_GL=WDFY1;ESP6500_GRCh38_POSITION=2:223899099;ESP6500_GTC=5718,748,37;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020830.3:c.486-29G>A;ESP6500_MAF=4.686,9.5098,6.3202;ESP6500_TAC=12184,822	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1358,129,0
chr2	223901177	rs604990	G	A	1619.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs604990;dbSNPBuildID=83;ANN=A|splice_region_variant&intron_variant|LOW|WDFY1|WDFY1|transcript|NM_020830.4|protein_coding|5/11|c.485+6C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.8775;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=18931;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.9433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224765894;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3987,419;ESP6500_AA_AGE=788.3+/-414.9;ESP6500_AA_GTC=1811,365,27;ESP6500_CDS_SIZES=NM_020830.3:1233;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=88;ESP6500_EA_AC=8223,377;ESP6500_EA_AGE=802.2+/-407.3;ESP6500_EA_GTC=3931,361,8;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020830.3:intron;ESP6500_GL=WDFY1;ESP6500_GRCh38_POSITION=2:223901177;ESP6500_GTC=5742,726,35;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020830.3:c.485+6C>T;ESP6500_MAF=4.3837,9.5098,6.1203;ESP6500_TAC=12210,796	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1648,168,0
chr2	223906063	rs622896	C	T	180.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.84;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs622896;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|WDFY1|WDFY1|transcript|NM_020830.4|protein_coding|3/11|c.280-62G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=4086;p3_1000G_AF=0.815895;p3_1000G_AFR_AF=0.5378;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=18493;p3_1000G_EAS_AF=0.8284;p3_1000G_EUR_AF=0.9414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224770780;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9755;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=818,564;ESP6500_AA_GTC=243,332,116;ESP6500_CDS_SIZES=NM_020830.3:1233;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=28;ESP6500_EA_AC=3025,133;ESP6500_EA_GTC=1449,127,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020830.3:intron;ESP6500_GL=WDFY1;ESP6500_GRCh38_POSITION=2:223906063;ESP6500_GTC=1692,459,119;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020830.3:c.280-62G>A;ESP6500_MAF=4.2115,40.8104,15.3524;ESP6500_TAC=3843,697	GT:AD:DP:GQ:PL	1/1:0,5:5:15:209,15,0
chr2	223912104	rs544319	T	C	154.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs544319;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|WDFY1|WDFY1|transcript|NM_020830.4|protein_coding|3/11|c.279+149A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3988;p3_1000G_AF=0.796326;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=16737;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224776821;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:183,15,0
chr2	223912377	rs541712	T	C	566.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs541712;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|WDFY1|WDFY1|transcript|NM_020830.4|protein_coding|2/11|c.206-51A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3987;p3_1000G_AF=0.796126;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=16687;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224777094;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3571,835;ESP6500_AA_AGE=327.2+/-299.9;ESP6500_AA_GTC=1447,677,79;ESP6500_CDS_SIZES=NM_020830.3:1233;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=53;ESP6500_EA_AC=7950,650;ESP6500_EA_AGE=164.6+/-216.9;ESP6500_EA_GTC=3676,598,26;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020830.3:intron;ESP6500_GL=WDFY1;ESP6500_GRCh38_POSITION=2:223912377;ESP6500_GTC=5123,1275,105;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020830.3:c.206-51A>G;ESP6500_MAF=7.5581,18.9514,11.4178;ESP6500_TAC=11521,1485	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:223912377_T_C:595,45,0
chr2	223912388	rs113054269;rs397782236	G	GTGAT	533.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=2.147;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113054269;dbSNPBuildID=132,138;ANN=GTGAT|intron_variant|MODIFIER|WDFY1|WDFY1|transcript|NM_020830.4|protein_coding|2/11|c.206-66_206-63dupATCA||||||;p3_1000G_AC=3987;p3_1000G_AF=0.796126;p3_1000G_AFR_AF=0.7829;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=17947;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224777105;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=INDEL;ESP6500_AA_AC=3446,818;ESP6500_AA_GTC=1405,636,91;ESP6500_CDS_SIZES=NM_020830.3:1233;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=66;ESP6500_EA_AC=7603,647;ESP6500_EA_GTC=3514,575,36;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020830.3:intron;ESP6500_GL=WDFY1;ESP6500_GRCh38_POSITION=2:223912388;ESP6500_GTC=4919,1211,127;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020830.3:c.206-63_206-62insATCA;ESP6500_MAF=7.8424,19.1839,11.7069;ESP6500_TAC=11049,1465	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:42:1|1:223912377_T_C:571,42,0
chr2	223967174	rs6707243	G	A	676.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.2;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6707243;dbSNPBuildID=116;ANN=A|3_prime_UTR_variant|MODIFIER|MRPL44|MRPL44|transcript|NM_022915.3|protein_coding|4/4|c.*140G>A|||||140|;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20760;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224831891;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:71:705,71,0
chr2	223977433	rs7597833	T	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.65;ReadPosRankSum=-0.572;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7597833;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SERPINE2|SERPINE2|transcript|NM_001136530.1|protein_coding|8/8|c.1192+111A>G||||||,C|intron_variant|MODIFIER|SERPINE2|SERPINE2|transcript|NR_073116.1|pseudogene|9/9|n.1817+111A>G||||||,C|intron_variant|MODIFIER|SERPINE2|SERPINE2|transcript|NM_001136528.1|protein_coding|8/8|c.1156+111A>G||||||,C|intron_variant|MODIFIER|SERPINE2|SERPINE2|transcript|NM_006216.3|protein_coding|8/8|c.1159+111A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1586;p3_1000G_AF=0.316693;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=21077;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.502;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224842150;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,4:18:99:112,0,450
chr2	223980202	rs729631	C	G	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs729631;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SERPINE2|SERPINE2|transcript|NM_001136530.1|protein_coding|7/8|c.1108+109G>C||||||,G|intron_variant|MODIFIER|SERPINE2|SERPINE2|transcript|NR_073116.1|pseudogene|8/9|n.1733+109G>C||||||,G|intron_variant|MODIFIER|SERPINE2|SERPINE2|transcript|NM_001136528.1|protein_coding|7/8|c.1072+109G>C||||||,G|intron_variant|MODIFIER|SERPINE2|SERPINE2|transcript|NM_006216.3|protein_coding|7/8|c.1075+109G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3404;p3_1000G_AF=0.679712;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=20304;p3_1000G_EAS_AF=0.4365;p3_1000G_EUR_AF=0.83;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=224844919;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6401;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:33:77,0,33
chr2	224503604	rs3738951	A	G	522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.528;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=5.764;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-0.754;SOR=0.072;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3738951;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|CUL3|CUL3|transcript|NM_001257198.1|protein_coding|9/15|c.1395+48T>C||||||,G|intron_variant|MODIFIER|CUL3|CUL3|transcript|NM_001257197.1|protein_coding|8/14|c.1179+48T>C||||||,G|intron_variant|MODIFIER|CUL3|CUL3|transcript|NM_003590.4|protein_coding|9/15|c.1377+48T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2703;p3_1000G_AF=0.539736;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=20752;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.4622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225368321;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5644;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2041,2365;ESP6500_AA_GTC=499,1043,661;ESP6500_CDS_SIZES=NM_003590.4:2307,NM_001257198.1:2325,NM_001257197.1:2109;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=65;ESP6500_EA_AC=4015,4569;ESP6500_EA_GTC=930,2155,1207;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003590.4:intron,NM_001257198.1:intron,NM_001257197.1:intron;ESP6500_GL=CUL3;ESP6500_GRCh38_POSITION=2:224503604;ESP6500_GTC=1429,3198,1868;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003590.4:c.1377+48T>C,NM_001257198.1:c.1395+48T>C,NM_001257197.1:c.1179+48T>C;ESP6500_MAF=46.7731,46.3232,46.6205;ESP6500_TAC=6056,6934	GT:AD:DP:GQ:PL	0/1:10,18:28:99:551,0,282
chr2	224569728	rs10498163;504910	A	G	212.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.335;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=4.036;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.794;SOR=1.082;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10498163;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|CUL3|CUL3|transcript|NM_001257198.1|protein_coding|1/16|c.45T>C|p.His15His|98/6473|45/2325|15/774||,G|intron_variant|MODIFIER|CUL3|CUL3|transcript|NM_001257197.1|protein_coding|1/14|c.66+15216T>C||||||,G|intron_variant|MODIFIER|CUL3|CUL3|transcript|NM_003590.4|protein_coding|1/15|c.67-11872T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1407;p3_1000G_AF=0.28095;p3_1000G_AFR_AF=0.1596;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=15349;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.33;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225434445;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2577;p3_1000G_VT=SNP;CLINVAR_ALLELEID=496687;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.224569728A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CUL3:8452;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10498163	GT:AD:DP:GQ:PL	0/1:11,11:22:99:241,0,245
chr2	224765718	rs1045653	C	T	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.55;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.488;SOR=0.413;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1045653;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|56/56|c.*3G>A|||||3|,T|3_prime_UTR_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|56/56|c.*3G>A|||||3|;p3_1000G_AA=c|||;p3_1000G_AC=1039;p3_1000G_AF=0.207468;p3_1000G_AFR_AF=0.084;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=16376;p3_1000G_EAS_AF=0.3562;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225630435;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=307,3431;ESP6500_AA_GTC=14,279,1576;ESP6500_CDS_SIZES=NM_014689.2:6561;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=110;ESP6500_EA_AC=1476,6752;ESP6500_EA_GTC=153,1170,2791;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014689.2:utr-3;ESP6500_GL=DOCK10;ESP6500_GRCh38_POSITION=2:224765718;ESP6500_GTC=167,1449,4367;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014689.2:c.*3G>A;ESP6500_MAF=17.9387,8.2129,14.9006;ESP6500_TAC=1783,10183	GT:AD:DP:GQ:PL	0/1:29,21:50:99:491,0,763
chr2	224800357	rs1560859	G	A	264.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.1;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1560859;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|40/55|c.4394-94C>T||||||,A|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|40/55|c.4376-94C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4870;p3_1000G_AF=0.972444;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=18483;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225665074;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:293,24,0
chr2	224804000	rs1022253667;rs71062961	A	ATG	59.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=0.291;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs71062961;dbSNPBuildID=150,130;ANN=ATG|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|39/55|c.4268+110_4268+111dupCA||||||,ATG|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|39/55|c.4250+110_4250+111dupCA||||||	GT:AD:DP:GQ:PL	0/1:4,4:8:97:97,0,102
chr2	224841896	rs144638149	C	T	524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.843;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.189;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144638149;dbSNPBuildID=134;ANN=T|missense_variant&splice_region_variant|MODERATE|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|23/56|c.2569G>A|p.Asp857Asn|2808/7431|2569/6561|857/2186||,T|missense_variant&splice_region_variant|MODERATE|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|23/56|c.2551G>A|p.Asp851Asn|2665/7288|2551/6543|851/2180||;p3_1000G_AA=C|||;p3_1000G_AC=113;p3_1000G_AF=0.0225639;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=19238;p3_1000G_EAS_AF=0.0903;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225706613;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=5,3869;ESP6500_AA_GTC=0,5,1932;ESP6500_CDS_SIZES=NM_014689.2:6561;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=201;ESP6500_EA_AC=1,8325;ESP6500_EA_GTC=0,1,4162;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014689.2:missense-near-splice;ESP6500_GL=DOCK10;ESP6500_GRCh38_POSITION=2:224841896;ESP6500_GS=23;ESP6500_GTC=0,6,6094;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014689.2:c.2569G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014689.2:p.(D857N);ESP6500_MAF=0.012,0.1291,0.0492;ESP6500_PH=probably-damaging:0.998;ESP6500_TAC=6,12194	GT:AD:DP:GQ:PL	0/1:23,24:47:99:553,0,608
chr2	224855064	rs145044043	G	GACACAC	525.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.64;SOR=2.147;INS;HET;VARTYPE=INS;dbSNPBuildID=134;ANN=GACACAC|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|15/55|c.1809-28_1809-23dupGTGTGT||||||,GACACAC|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|15/55|c.1791-28_1791-23dupGTGTGT||||||	GT:AD:DP:GQ:PL	1/0:0,8:8:96:563,137,96
chr2	224855064	rs145044043;rs60658292	G	GACACACAC	525.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.64;SOR=2.147;INS;HET;VARTYPE=INS;dbSNP138_ID=rs145044043;dbSNPBuildID=134,129;ANN=GACACACAC|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|15/55|c.1809-30_1809-23dupGTGTGTGT||||||,GACACACAC|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|15/55|c.1791-30_1791-23dupGTGTGTGT||||||	GT:AD:DP:GQ:PL	0/1:0,5:5:96:563,210,173
chr2	224931699	rs374945872	C	T	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.426;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.29;ReadPosRankSum=-0.71;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs374945872;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|1/55|c.124-31G>A||||||,T|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|1/55|c.106-31G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2;p3_1000G_AF=0.000399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19066;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225796416;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:253,0,137
chr2	224931741	rs35061287;rs56679909	ATC	A	110.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.411;SOR=2.303;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs56679909,rs35061287;dbSNPBuildID=126,129;ANN=A|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|1/55|c.124-75_124-74delGA||||||,A|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|1/55|c.106-75_106-74delGA||||||;p3_1000G_AC=1649;p3_1000G_AF=0.329273;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=19401;p3_1000G_EAS_AF=0.3304;p3_1000G_EUR_AF=0.337;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225796458;p3_1000G_GRCH37_REF=ATC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,4:10:99:148,0,235
chr2	224946864	rs13021295	T	A	670.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.699;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.091;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=2;SOR=0.521;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13021295;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|DOCK10|DOCK10|transcript|NM_001290263.1|protein_coding|1/56|c.88A>T|p.Ile30Phe|202/7288|88/6543|30/2180||,A|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|1/55|c.124-15196A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1246;p3_1000G_AF=0.248802;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=16987;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.2674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225811581;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3354;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,30:51:99:699,0,489
chr2	224983673	rs412120	T	A	1000.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.33;SOR=1.542;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs412120;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|1/55|c.124-52005A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=941;p3_1000G_AF=0.187899;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18496;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225848390;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1029,99,0
chr2	224983862	rs375205	T	C	963.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs375205;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|DOCK10|DOCK10|transcript|NM_014689.2|protein_coding|1/55|c.124-52194A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3732;p3_1000G_AF=0.745208;p3_1000G_AFR_AF=0.9032;p3_1000G_AMR_AF=0.7032;p3_1000G_AN=5008;p3_1000G_DP=18361;p3_1000G_EAS_AF=0.5933;p3_1000G_EUR_AF=0.7684;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=225848579;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:992,84,0
chr2	225408973	rs2048936	T	C	736.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.064;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.505;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2048936;dbSNPBuildID=94;ANN=C|synonymous_variant|LOW|NYAP2|NYAP2|transcript|NM_020864.1|protein_coding|2/6|c.93T>C|p.Tyr31Tyr|268/4590|93/1962|31/653||;p3_1000G_AA=t|||;p3_1000G_AC=3789;p3_1000G_AF=0.756589;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=18456;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.8171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226273689;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3532,264;ESP6500_AA_GTC=1638,256,4;ESP6500_CDS_SIZES=NM_020864.1:1962;ESP6500_CG=-8.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=139;ESP6500_EA_AC=6794,1452;ESP6500_EA_GTC=2806,1182,135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020864.1:coding-synonymous;ESP6500_GL=NYAP2;ESP6500_GRCh38_POSITION=2:225408973;ESP6500_GTC=4444,1438,139;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020864.1:c.93T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020864.1:p.(Y31);ESP6500_MAF=17.6085,6.9547,14.2501;ESP6500_TAC=10326,1716	GT:AD:DP:GQ:PL	0/1:36,31:67:99:765,0,854
chr2	225583019	rs3828256	C	T	891.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3828256;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|NYAP2|NYAP2|transcript|NM_020864.1|protein_coding|4/6|c.1602C>T|p.Ser534Ser|1777/4590|1602/1962|534/653||;p3_1000G_AA=C|||;p3_1000G_AC=2675;p3_1000G_AF=0.534145;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=13853;p3_1000G_EAS_AF=0.5288;p3_1000G_EUR_AF=0.6928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226447735;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1173,2565;ESP6500_AA_GTC=203,767,899;ESP6500_CDS_SIZES=NM_020864.1:1962;ESP6500_CG=-3.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=12;ESP6500_EA_AC=5305,2685;ESP6500_EA_GTC=1806,1693,496;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020864.1:coding-synonymous;ESP6500_GL=NYAP2;ESP6500_GRCh38_POSITION=2:225583019;ESP6500_GTC=2009,2460,1395;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020864.1:c.1602C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020864.1:p.(S534);ESP6500_MAF=33.6045,31.3804,44.7647;ESP6500_TAC=6478,5250	GT:AD:DP:GQ:PL	1/1:0,30:30:90:920,90,0
chr2	225627054	rs3748993	A	C	2212.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=1.033;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3748993;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|NYAP2|NYAP2|transcript|NM_020864.1|protein_coding|5/6|c.1756A>C|p.Thr586Pro|1931/4590|1756/1962|586/653||;p3_1000G_AA=C|||;p3_1000G_AC=4674;p3_1000G_AF=0.933307;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.9798;p3_1000G_AN=5008;p3_1000G_DP=16527;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.9503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=226491770;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3844,52;ESP6500_AA_GTC=1896,52,0;ESP6500_CDS_SIZES=NM_020864.1:1962;ESP6500_CG=3.9;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=48;ESP6500_EA_AC=7876,412;ESP6500_EA_GTC=3745,386,13;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020864.1:missense;ESP6500_GL=NYAP2;ESP6500_GRCh38_POSITION=2:225627054;ESP6500_GS=38;ESP6500_GTC=5641,438,13;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_020864.1:c.1756A>C;ESP6500_HGVS_PROTEIN_VAR=NM_020864.1:p.(T586P);ESP6500_MAF=4.971,1.3347,3.8083;ESP6500_PH=benign:0.0;ESP6500_TAC=11720,464	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2241,198,0
chr2	226796327	rs1801123	T	C	681.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.543;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=6.106;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-1.191;SOR=0.227;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1801123;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|IRS1|IRS1|transcript|NM_005544.2|protein_coding|1/2|c.2412A>G|p.Ala804Ala|2464/8736|2412/3729|804/1242||;p3_1000G_AA=C|||;p3_1000G_AC=1402;p3_1000G_AF=0.279952;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=17051;p3_1000G_EAS_AF=0.2649;p3_1000G_EUR_AF=0.0835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227661043;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1752,2654;ESP6500_AA_AGE=638.3+/-396.9;ESP6500_AA_GTC=368,1016,819;ESP6500_CDS_SIZES=NM_005544.2:3729;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=79;ESP6500_EA_AC=834,7766;ESP6500_EA_AGE=773.5+/-407.7;ESP6500_EA_GTC=48,738,3514;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005544.2:coding-synonymous;ESP6500_GL=IRS1;ESP6500_GRCh38_POSITION=2:226796327;ESP6500_GTC=416,1754,4333;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005544.2:c.2412A>G;ESP6500_HGVS_PROTEIN_VAR=NM_005544.2:p.(A804);ESP6500_MAF=9.6977,39.764,19.8831;ESP6500_TAC=2586,10420	GT:AD:DP:GQ:PL	0/1:21,26:47:99:710,0,587
chr2	226798469	rs3731597	G	A	977.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.984;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=1.902;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.801;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731597;dbSNPBuildID=107;ANN=A|structural_interaction_variant|HIGH|IRS1|IRS1|interaction|1QQG:A_90-A_198:NM_005544.2|protein_coding|1/2|c.270C>T||||||,A|synonymous_variant|LOW|IRS1|IRS1|transcript|NM_005544.2|protein_coding|1/2|c.270C>T|p.Asp90Asp|322/8736|270/3729|90/1242||;p3_1000G_AA=G|||;p3_1000G_AC=444;p3_1000G_AF=0.0886581;p3_1000G_AFR_AF=0.174;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=17241;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.0139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227663185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1237;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=651,3755;ESP6500_AA_AGE=268.6+/-268.5;ESP6500_AA_GTC=54,543,1606;ESP6500_CDS_SIZES=NM_005544.2:3729;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=89;ESP6500_EA_AC=87,8513;ESP6500_EA_AGE=47.2+/-106.3;ESP6500_EA_GTC=1,85,4214;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005544.2:coding-synonymous;ESP6500_GL=IRS1;ESP6500_GRCh38_POSITION=2:226798469;ESP6500_GTC=55,628,5820;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005544.2:c.270C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005544.2:p.(D90);ESP6500_MAF=1.0116,14.7753,5.6743;ESP6500_TAC=738,12268	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1006,0,908
chr2	227008279	rs2228555;255041	T	C	924.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=10.707;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.184;SOR=0.163;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228555;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|47/48|c.4548A>G|p.Val1516Val|5202/10341|4548/5073|1516/1690||;p3_1000G_AA=C|||;p3_1000G_AC=3208;p3_1000G_AF=0.640575;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=20423;p3_1000G_EAS_AF=0.5982;p3_1000G_EUR_AF=0.5199;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227872995;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3066,1150;ESP6500_AA_GTC=1125,816,167;ESP6500_CDS_SIZES=NM_000092.4:5073;ESP6500_CG=2.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=55;ESP6500_EA_AC=4342,4090;ESP6500_EA_GTC=1139,2064,1013;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000092.4:coding-synonymous;ESP6500_GL=COL4A4;ESP6500_GRCh38_POSITION=2:227008279;ESP6500_GTC=2264,2880,1180;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000092.4:c.4548A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000092.4:p.(V1516);ESP6500_MAF=48.5057,27.277,41.4295;ESP6500_TAC=7408,5240;CLINVAR_ALLELEID=250586;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227008279T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28123;CLINVAR_GENEINFO=COL4A4:1286;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2228555	GT:AD:DP:GQ:PL	0/1:36,35:71:99:953,0,929
chr2	227047615	rs2272200	G	A	314.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.362;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=1.64;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272200;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|34/47|c.3215-66C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2770;p3_1000G_AF=0.553115;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=17304;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227912331;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,13:28:99:343,0,439
chr2	227049909	rs2272202	T	C	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.619;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272202;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|34/47|c.3214+159A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=2770;p3_1000G_AF=0.553115;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=20217;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227914625;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:100,0,138
chr2	227049939	rs2272203	C	G	161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.264;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.305;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272203;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|34/47|c.3214+129G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2770;p3_1000G_AF=0.553115;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=21934;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227914655;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:190,0,140
chr2	227051116	rs1800517;255028	G	A	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.051;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.117;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1800517;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|33/48|c.3011C>T|p.Pro1004Leu|3665/10341|3011/5073|1004/1690||;p3_1000G_AA=G|||;p3_1000G_AC=2741;p3_1000G_AF=0.547324;p3_1000G_AFR_AF=0.587;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=17359;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.494;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227915832;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2198,1576;ESP6500_AA_GTC=629,940,318;ESP6500_CDS_SIZES=NM_000092.4:5073;ESP6500_CG=4.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=111;ESP6500_EA_AC=4022,4198;ESP6500_EA_GTC=980,2062,1068;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000092.4:missense;ESP6500_GL=COL4A4;ESP6500_GRCh38_POSITION=2:227051116;ESP6500_GS=98;ESP6500_GTC=1609,3002,1386;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000092.4:c.3011C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000092.4:p.(P1004L);ESP6500_MAF=48.9294,41.7594,48.1407;ESP6500_PH=possibly-damaging:0.634;ESP6500_TAC=6220,5774;CLINVAR_ALLELEID=250599;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|Alport_syndrome,_autosomal_recessive|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227051116G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:2125|Illumina_Clinical_Services_Laboratory,Illumina:28246|UniProtKB_(protein):P53420#VAR_008152;CLINVAR_GENEINFO=COL4A4:1286;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1800517	GT:AD:DP:GQ:PL	0/1:19,15:34:99:393,0,458
chr2	227051208	rs2272205	T	C	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.74;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=0.955;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272205;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|32/47|c.2969-50A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=531;p3_1000G_AF=0.10603;p3_1000G_AFR_AF=0.0393;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=19203;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227915924;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=170,3558;ESP6500_AA_GTC=1,168,1695;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22610502;ESP6500_CDS_SIZES=NM_000092.4:5073;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=781,7405;ESP6500_EA_GTC=34,713,3346;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000092.4:intron;ESP6500_GL=COL4A4;ESP6500_GRCh38_POSITION=2:227051208;ESP6500_GTC=35,881,5041;ESP6500_GTS=CC,CT,TT;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22610502;ESP6500_HGVS_CDNA_VAR=NM_000092.4:c.2969-50A>G;ESP6500_MAF=9.5407,4.5601,7.9822;ESP6500_TAC=951,10963	GT:AD:DP:GQ:PL	0/1:8,3:11:98:98,0,236
chr2	227057388	rs7567789	T	C	109.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.019;SOR=2.419;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7567789;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|29/47|c.2545+51A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3338;p3_1000G_AF=0.666534;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=21691;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.5905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227922104;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2832,850;ESP6500_AA_GTC=1107,618,116;ESP6500_CDS_SIZES=NM_000092.4:5073;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=4957,3205;ESP6500_EA_GTC=1551,1855,675;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000092.4:intron;ESP6500_GL=COL4A4;ESP6500_GRCh38_POSITION=2:227057388;ESP6500_GTC=2658,2473,791;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000092.4:c.2545+51A>G;ESP6500_MAF=39.2673,23.0853,34.2367;ESP6500_TAC=7789,4055	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,3:10:99:1|0:227057379_G_A:138,0,382
chr2	227057393	rs7567796	T	A	106.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.12;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-1.311;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7567796;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|29/47|c.2545+46A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3174;p3_1000G_AF=0.633786;p3_1000G_AFR_AF=0.68;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=21498;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.5905;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227922109;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2456,1230;ESP6500_AA_GTC=851,754,238;ESP6500_CDS_SIZES=NM_000092.4:5073;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=11;ESP6500_EA_AC=4945,3221;ESP6500_EA_GTC=1529,1887,667;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000092.4:intron;ESP6500_GL=COL4A4;ESP6500_GRCh38_POSITION=2:227057393;ESP6500_GTC=2380,2641,905;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_000092.4:c.2545+46A>T;ESP6500_MAF=39.444,33.3695,37.5548;ESP6500_TAC=7401,4451	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,4:12:99:1|0:227057379_G_A:135,0,416
chr2	227057605	rs3769641;255020	A	G	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.6;ReadPosRankSum=0.511;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769641;dbSNPBuildID=107;ANN=G|splice_region_variant&intron_variant|LOW|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|28/47|c.2384-5T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=20649;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.0974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227922321;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=182,3642;ESP6500_AA_GTC=2,178,1732;ESP6500_CDS_SIZES=NM_000092.4:5073;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=56;ESP6500_EA_AC=713,7541;ESP6500_EA_GTC=29,655,3443;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000092.4:intron;ESP6500_GL=COL4A4;ESP6500_GRCh38_POSITION=2:227057605;ESP6500_GTC=31,833,5175;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000092.4:c.2384-5T>C;ESP6500_MAF=8.6382,4.7594,7.4102;ESP6500_TAC=895,11183;CLINVAR_AF_ESP=0.0741;CLINVAR_AF_EXAC=0.08863;CLINVAR_AF_TGP=0.1030;CLINVAR_ALLELEID=250606;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227057605A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:75801;CLINVAR_GENEINFO=COL4A4:1286;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3769641	GT:AD:DP:GQ:PL	0/1:16,7:23:99:157,0,381
chr2	227060381	rs6436650	C	T	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.655;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.736;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.6;ReadPosRankSum=-0.291;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6436650;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|26/47|c.2057-138G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3422;p3_1000G_AF=0.683307;p3_1000G_AFR_AF=0.8707;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=19057;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.5875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227925097;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,10:13:73:322,0,73
chr2	227062473	rs35717623;rs398081120;rs796278870	GT	G	141.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.299;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.778;SOR=0.132;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35717623;dbSNPBuildID=126,138,146;ANN=G|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|26/47|c.2056+56delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2796;p3_1000G_AF=0.558307;p3_1000G_AFR_AF=0.5469;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=16012;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.5755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227927189;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,8:11:46:179,0,46
chr2	227078235	rs7588113	T	C	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=0.272;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7588113;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|24/47|c.1804-158A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3338;p3_1000G_AF=0.666534;p3_1000G_AFR_AF=0.8026;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=11487;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.5865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227942951;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:96:182,0,96
chr2	227089883	rs2229814;255014	G	A	1052.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.7;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229814;dbSNPBuildID=129;ANN=A|missense_variant|MODERATE|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|21/48|c.1444C>T|p.Pro482Ser|2098/10341|1444/5073|482/1690||;p3_1000G_AA=A|||;p3_1000G_AC=2747;p3_1000G_AF=0.548522;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=13414;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.498;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227954599;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.638;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1967,1779;ESP6500_AA_GTC=523,921,429;ESP6500_CDS_SIZES=NM_000092.4:5073;ESP6500_CG=0.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=111;ESP6500_EA_AC=4115,4087;ESP6500_EA_GTC=1044,2027,1030;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000092.4:missense;ESP6500_GL=COL4A4;ESP6500_GRCh38_POSITION=2:227089883;ESP6500_GS=74;ESP6500_GTC=1567,2948,1459;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000092.4:c.1444C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000092.4:p.(P482S);ESP6500_MAF=49.8293,47.4907,49.0961;ESP6500_PH=benign:0.0;ESP6500_TAC=6082,5866;CLINVAR_ALLELEID=250610;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227089883G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28262|UniProtKB_(protein):P53420#VAR_022069;CLINVAR_GENEINFO=COL4A4:1286;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2229814	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1081,114,0
chr2	227114817	rs12465531	A	C	450.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.67;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12465531;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|COL4A4|COL4A4|transcript|NM_000092.4|protein_coding|7/47|c.490-121T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3216;p3_1000G_AF=0.642173;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=16419;p3_1000G_EAS_AF=0.7937;p3_1000G_EUR_AF=0.3728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=227979533;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:479,39,0
chr2	227238036	rs1882435;254981	C	A	678.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.15;SOR=1.136;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1882435;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|2/51|c.144+12C>A||||||,A|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|10/13|n.1681+50G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1528;p3_1000G_AF=0.305112;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=16420;p3_1000G_EAS_AF=0.4206;p3_1000G_EUR_AF=0.3201;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228102752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=967,2715;ESP6500_AA_GTC=134,699,1008;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=137;ESP6500_EA_AC=2409,5763;ESP6500_EA_GTC=386,1637,2063;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:intron;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227238036;ESP6500_GTC=520,2336,3071;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.144+12C>A;ESP6500_MAF=29.4787,26.2629,28.4798;ESP6500_TAC=3376,8478;CLINVAR_AF_ESP=0.2848;CLINVAR_AF_EXAC=0.30777;CLINVAR_AF_TGP=0.3051;CLINVAR_ALLELEID=250621;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227238036C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28062;CLINVAR_GENEINFO=COL4A3:1285|LOC654841:654841;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1882435	GT:AD:DP:GQ:PL	1/1:0,25:25:75:707,75,0
chr2	227238176	rs35499269	T	TA	15.82	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=7.91;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs35499269;dbSNPBuildID=126;ANN=TA|splice_region_variant&intron_variant|LOW|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-3dupT||||||,TA|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|2/51|c.144+165dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2192;p3_1000G_AF=0.4377;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=20345;p3_1000G_EAS_AF=0.5804;p3_1000G_EUR_AF=0.3907;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228102892;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,2:2:6:52,6,0
chr2	227240044	rs7579991	C	T	819.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.53;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7579991;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|2/51|c.145-99C>T||||||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-1870G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3985;p3_1000G_AF=0.795727;p3_1000G_AFR_AF=0.6014;p3_1000G_AMR_AF=0.8761;p3_1000G_AN=5008;p3_1000G_DP=21823;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228104760;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:848,78,0
chr2	227244910	rs113428834;~rs67073195	T	TG	742.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.96;SOR=1.23;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113428834,rs11386485;dbSNPBuildID=132;ANN=TG|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|4/51|c.280-41_280-40insG||||||,TG|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-6737_1593-6736insC||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3752;p3_1000G_AF=0.749201;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=15567;p3_1000G_EAS_AF=0.8909;p3_1000G_EUR_AF=0.831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228109626;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7955;p3_1000G_VT=INDEL;ESP6500_AA_AC=2217,35,1226;ESP6500_AA_GTC=724,7,762,0,28,218;ESP6500_CDS_SIZES=NM_000091.4:5013,NM_000091.4:5013;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=68;ESP6500_EA_AC=6408,24,1348;ESP6500_EA_GTC=2656,5,1091,0,19,119;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:intron,NM_000091.4:intron;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227244910;ESP6500_GTC=3380,12,1853,0,47,337;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.280-41_280-40insT,NM_000091.4:c.280-41_280-40insG;ESP6500_MAF=17.635,36.2565,23.3878;ESP6500_TAC=8625,59,2574	GT:AD:DP:GQ:PL	1/1:0,21:21:63:780,63,0
chr2	227245068	rs6750210	C	T	481.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.34;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6750210;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|5/51|c.324+73C>T||||||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-6894G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3746;p3_1000G_AF=0.748003;p3_1000G_AFR_AF=0.5144;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=16064;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.8151;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228109784;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8354;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=773,611;ESP6500_AA_GTC=210,353,129;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=25;ESP6500_EA_AC=2591,583;ESP6500_EA_GTC=1058,475,54;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:intron;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227245068;ESP6500_GTC=1268,828,183;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.324+73C>T;ESP6500_MAF=18.368,44.1474,26.1957;ESP6500_TAC=3364,1194	GT:AD:DP:GQ:PL	1/1:0,17:17:51:510,51,0
chr2	227246719	rs10178458;254996	T	C	2405.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=0.824;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10178458;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|7/52|c.422T>C|p.Leu141Pro|584/8097|422/5013|141/1670||,C|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-8545A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3990;p3_1000G_AF=0.796725;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=18234;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228111435;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2369,1313;ESP6500_AA_GTC=779,811,251;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=65;ESP6500_EA_AC=6759,1407;ESP6500_EA_GTC=2809,1141,133;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000091.4:missense;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227246719;ESP6500_GS=98;ESP6500_GTC=3588,1952,384;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.422T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000091.4:p.(L141P);ESP6500_MAF=17.23,35.66,22.9575;ESP6500_PH=benign:0.042;ESP6500_TAC=9128,2720;CLINVAR_ALLELEID=250625;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:C1567743,OMIM:104200,Orphanet:ORPHA88918|MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|Alport_syndrome,_autosomal_dominant|Alport_syndrome,_autosomal_recessive|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227246719T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:1979|Illumina_Clinical_Services_Laboratory,Illumina:28074|UniProtKB_(protein):Q01955#VAR_030944;CLINVAR_GENEINFO=COL4A3:1285|LOC654841:654841;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10178458	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2434,237,0
chr2	227246884	rs10168566	G	T	1716.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.17;SOR=1.923;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10168566;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|7/51|c.441+146G>T||||||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-8710C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3887;p3_1000G_AF=0.776158;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=21574;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228111600;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=977,775;ESP6500_AA_GTC=280,417,179;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=19;ESP6500_EA_AC=3294,688;ESP6500_EA_GTC=1371,552,68;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:intron;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227246884;ESP6500_GTC=1651,969,247;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.441+146G>T;ESP6500_MAF=17.2777,44.2352,25.5145;ESP6500_TAC=4271,1463	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,39:39:99:1|1:227246884_G_T:1745,117,0
chr2	227246888	rs10168567	G	T	1740.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=1.923;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10168567;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|7/51|c.441+150G>T||||||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-8714C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3887;p3_1000G_AF=0.776158;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=21466;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228111604;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=979,773;ESP6500_AA_GTC=281,417,178;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=18;ESP6500_EA_AC=3293,689;ESP6500_EA_GTC=1369,555,67;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:intron;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227246888;ESP6500_GTC=1650,972,245;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.441+150G>T;ESP6500_MAF=17.3029,44.121,25.497;ESP6500_TAC=4272,1462	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,39:39:99:1|1:227246884_G_T:1769,120,0
chr2	227246935	rs10192026	A	G	889.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.85;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10192026;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|7/51|c.441+197A>G||||||,G|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-8761T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3990;p3_1000G_AF=0.796725;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=21264;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228111651;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:918,72,0
chr2	227247470	rs4321358	A	G	1169.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.67;SOR=2.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4321358;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|7/51|c.442-88A>G||||||,G|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-9296T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4955;p3_1000G_AF=0.989417;p3_1000G_AFR_AF=0.9902;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=19852;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9751;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228112186;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1369,15;ESP6500_AA_GTC=677,15,0;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=405;ESP6500_EA_AC=3083,99;ESP6500_EA_GTC=1492,99,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:intron;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227247470;ESP6500_GTC=2169,114,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.442-88A>G;ESP6500_MAF=3.1113,1.0838,2.4967;ESP6500_TAC=4452,114	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1198,96,0
chr2	227248459	rs6436669;255001	A	G	388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.77;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436669;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|9/52|c.485A>G|p.Glu162Gly|647/8097|485/5013|162/1670||,G|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1593-10285T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3988;p3_1000G_AF=0.796326;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=15700;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.839;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228113175;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8528;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2326,1308;ESP6500_AA_GTC=758,810,249;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=1.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=57;ESP6500_EA_AC=6760,1404;ESP6500_EA_GTC=2811,1138,133;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000091.4:missense;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227248459;ESP6500_GS=98;ESP6500_GTC=3569,1948,382;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.485A>G;ESP6500_HGVS_PROTEIN_VAR=NM_000091.4:p.(E162G);ESP6500_MAF=17.1975,35.9934,22.9869;ESP6500_PH=benign:0.019;ESP6500_TAC=9086,2712;CLINVAR_ALLELEID=250626;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:C1567743,OMIM:104200,Orphanet:ORPHA88918|MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|Alport_syndrome,_autosomal_dominant|Alport_syndrome,_autosomal_recessive|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227248459A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:2012|Illumina_Clinical_Services_Laboratory,Illumina:28082|UniProtKB_(protein):Q01955#VAR_011203;CLINVAR_GENEINFO=COL4A3:1285|LOC654841:654841;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6436669	GT:AD:DP:GQ:PL	1/1:0,14:14:42:417,42,0
chr2	227253687	rs12621551	T	G	1287.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12621551;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|13/51|c.765+49T>G||||||,G|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|9/13|n.1592+5491A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3941;p3_1000G_AF=0.786941;p3_1000G_AFR_AF=0.6248;p3_1000G_AMR_AF=0.8012;p3_1000G_AN=5008;p3_1000G_DP=17294;p3_1000G_EAS_AF=0.9187;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228118403;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2753,1237;ESP6500_AA_GTC=954,845,196;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=168;ESP6500_EA_AC=6763,1565;ESP6500_EA_GTC=2739,1285,140;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:intron;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227253687;ESP6500_GTC=3693,2130,336;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.765+49T>G;ESP6500_MAF=18.792,31.0025,22.7472;ESP6500_TAC=9516,2802	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1316,117,0
chr2	227263824	rs10205042;254976	C	T	1579.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.24;SOR=2.256;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10205042;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|21/52|c.1195C>T|p.Leu399Leu|1357/8097|1195/5013|399/1670||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|8/13|n.1486+845G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3844;p3_1000G_AF=0.767572;p3_1000G_AFR_AF=0.6725;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=17008;p3_1000G_EAS_AF=0.8621;p3_1000G_EUR_AF=0.7356;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228128540;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2508,1168;ESP6500_AA_GTC=862,784,192;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=1.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=31;ESP6500_EA_AC=5995,2171;ESP6500_EA_GTC=2218,1559,306;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:coding-synonymous;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227263824;ESP6500_GTC=3080,2343,498;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.1195C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000091.4:p.(L399);ESP6500_MAF=26.5858,31.7737,28.1963;ESP6500_TAC=8503,3339;CLINVAR_ALLELEID=250635;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:C1567743,OMIM:104200,Orphanet:ORPHA88918|MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|Alport_syndrome,_autosomal_dominant|Alport_syndrome,_autosomal_recessive|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227263824C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28089;CLINVAR_GENEINFO=COL4A3:1285|LOC654841:654841;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10205042	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1608,147,0
chr2	227264007	rs544426350	C	T	1423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.373;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=0.656;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=2.2;SOR=0.607;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|21/51|c.1315+63C>T||||||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|8/13|n.1486+662G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18473;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228128723;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:64,63:127:99:1452,0,1665
chr2	227267196	rs10933174	C	A	191.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.97;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10933174;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|23/51|c.1504+108C>A||||||,A|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|6/13|n.655+1157G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1776;p3_1000G_AF=0.354633;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=19515;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.4354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228131912;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:220,24,0
chr2	227270915	rs28381984;254985	C	T	1415.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.12;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28381984;dbSNPBuildID=125;ANN=T|missense_variant|MODERATE|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|25/52|c.1721C>T|p.Pro574Leu|1883/8097|1721/5013|574/1670||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|4/13|n.423-2146G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2003;p3_1000G_AF=0.39996;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=17505;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.4732;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228135631;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=782,2936;ESP6500_AA_GTC=92,598,1169;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=5.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=56;ESP6500_EA_AC=3848,4336;ESP6500_EA_GTC=917,2014,1161;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000091.4:missense;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227270915;ESP6500_GS=98;ESP6500_GTC=1009,2612,2330;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.1721C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000091.4:p.(P574L);ESP6500_MAF=47.0186,21.0328,38.901;ESP6500_PH=probably-damaging:1.0;ESP6500_TAC=4630,7272;CLINVAR_AF_ESP=0.3890;CLINVAR_AF_EXAC=0.46945;CLINVAR_AF_TGP=0.4000;CLINVAR_ALLELEID=250642;CLINVAR_CLNDISDB=MedGen:C1567741,Orphanet:ORPHA63|MedGen:C1567743,OMIM:104200,Orphanet:ORPHA88918|MedGen:C1567744,OMIM:203780,Orphanet:ORPHA88919|MedGen:CN169374;CLINVAR_CLNDN=Alport_syndrome|Alport_syndrome,_autosomal_dominant|Alport_syndrome,_autosomal_recessive|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.227270915C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:1907|Illumina_Clinical_Services_Laboratory,Illumina:28101|UniProtKB_(protein):Q01955#VAR_011209;CLINVAR_GENEINFO=COL4A3:1285|LOC654841:654841;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=28381984	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1444,141,0
chr2	227277322	rs397988093;rs559220117;rs59353048	GAA	G	378.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=29.18;SOR=3.767;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs59353048;dbSNPBuildID=135,142,138;ANN=G|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|27/51|c.2021-110_2021-109delAA||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|4/13|n.422+2159_422+2160delTT||||||;p3_1000G_AC=4816;p3_1000G_AF=0.961661;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=16001;p3_1000G_EAS_AF=0.9633;p3_1000G_EUR_AF=0.9891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228142038;p3_1000G_GRCH37_REF=GAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.955;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:38:337,38,0
chr2	227279990	rs6729152	G	T	708.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.26;SOR=1.22;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6729152;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|29/51|c.2223+100G>T||||||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|3/13|n.330-415C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4554;p3_1000G_AF=0.909345;p3_1000G_AFR_AF=0.9561;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=18007;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.9264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228144706;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:737,78,0
chr2	227280827	rs6436671	C	T	687.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436671;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|30/51|c.2375-66C>T||||||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|3/13|n.329+877G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4558;p3_1000G_AF=0.910144;p3_1000G_AFR_AF=0.9599;p3_1000G_AMR_AF=0.8905;p3_1000G_AN=5008;p3_1000G_DP=22442;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.9264;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228145543;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:716,69,0
chr2	227284391	rs6436672	A	G	1283.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.347;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436672;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|34/51|c.2881+46A>G||||||,G|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|2/13|n.244-2602T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4081;p3_1000G_AF=0.814896;p3_1000G_AFR_AF=0.7337;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=17423;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.9145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228149107;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3024,744;ESP6500_AA_GTC=1229,566,89;ESP6500_CDS_SIZES=NM_000091.4:5013;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=28;ESP6500_EA_AC=7524,712;ESP6500_EA_GTC=3434,656,28;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000091.4:intron;ESP6500_GL=COL4A3;ESP6500_GRCh38_POSITION=2:227284391;ESP6500_GTC=4663,1222,117;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000091.4:c.2881+46A>G;ESP6500_MAF=8.645,19.7452,12.1293;ESP6500_TAC=10548,1456	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1312,123,0
chr2	227289379	rs7593281	C	T	477.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.13;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7593281;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|35/51|c.2980+131C>T||||||,T|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|2/13|n.244-7590G>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=3746;p3_1000G_AF=0.748003;p3_1000G_AFR_AF=0.5325;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=16921;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.9026;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228154095;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:506,42,0
chr2	227293702	rs7569636	T	C	707.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.49;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7569636;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|38/51|c.3337+385T>C||||||,C|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|2/13|n.243+11758A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4538;p3_1000G_AF=0.90615;p3_1000G_AFR_AF=0.9365;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=17524;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9294;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228158418;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:736,72,0
chr2	227294347	rs6436675	T	C	310.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.53;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6436675;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|38/51|c.3338-143T>C||||||,C|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|2/13|n.243+11113A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18881;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228159063;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:339,27,0
chr2	227294944	rs35803812;rs398042967;rs537309336;rs537413613	GT	G	132.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=22.12;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35803812;dbSNPBuildID=126,142,142,138;ANN=G|splice_region_variant&intron_variant|LOW|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|39/51|c.3419-4delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|2/13|n.243+10515delA||||||	GT:AD:DP:GQ:PL	1/1:0,6:6:3:128,3,0
chr2	227305155	rs117501211	T	C	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.82;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.16;ReadPosRankSum=-1.876;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117501211;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|47/51|c.4252+72T>C||||||,C|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|2/13|n.243+305A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=44;p3_1000G_AF=0.00878594;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19519;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228169871;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,3:11:74:74,0,226
chr2	227311641	rs4455148	T	G	58.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.37;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4455148;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|COL4A3|COL4A3|transcript|NM_000091.4|protein_coding|51/51|c.4929-145T>G||||||,G|intron_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene|1/13|n.48-5986A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=15480;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228176357;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:86,6,0
chr2	227329854	rs6706656	G	A	653.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6706656;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene||n.-4690C>T|||||4690|,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277061.1|protein_coding|3/10|c.38+71G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277062.1|protein_coding|2/8|c.-40-772G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277063.1|protein_coding|2/7|c.-40-772G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277064.1|protein_coding|2/7|c.-40-772G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277065.1|protein_coding|2/6|c.-40-772G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277066.1|protein_coding|1/5|c.-40-772G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NR_102266.1|pseudogene|1/4|n.278-2565G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_020194.5|protein_coding|3/10|c.38+71G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277067.1|protein_coding|2/7|c.-36+71G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277068.1|protein_coding|1/7|c.-40-772G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=4206;p3_1000G_AF=0.839856;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=16914;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228194570;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=955,429;ESP6500_AA_GTC=324,307,61;ESP6500_CDS_SIZES=NM_020194.4:1029;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=87;ESP6500_EA_AC=3056,126;ESP6500_EA_GTC=1470,116,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020194.4:intron;ESP6500_GL=MFF;ESP6500_GRCh38_POSITION=2:227329854;ESP6500_GTC=1794,423,66;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020194.4:c.38+71G>A;ESP6500_MAF=3.9598,30.9971,12.1551;ESP6500_TAC=4011,555	GT:AD:DP:GQ:PL	1/1:0,22:22:66:682,66,0
chr2	227329923	rs11384091;rs36118365	T	TA	38.94	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.319;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.319;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11393500,rs36118365,rs11384091;dbSNPBuildID=126,137;ANN=TA|upstream_gene_variant|MODIFIER|LOC654841|LOC654841|transcript|NR_102371.1|pseudogene||n.-4760dupT|||||4760|,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277061.1|protein_coding|3/10|c.38+151dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277062.1|protein_coding|2/8|c.-40-692dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277063.1|protein_coding|2/7|c.-40-692dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277064.1|protein_coding|2/7|c.-40-692dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277065.1|protein_coding|2/6|c.-40-692dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277066.1|protein_coding|1/5|c.-40-692dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NR_102266.1|pseudogene|1/4|n.278-2485dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_020194.5|protein_coding|3/10|c.38+151dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277067.1|protein_coding|2/7|c.-36+151dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277068.1|protein_coding|1/7|c.-40-692dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2969;p3_1000G_AF=0.592851;p3_1000G_AFR_AF=0.6445;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=19191;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.5636;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228194639;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,3:4:13:76,0,13
chr2	227332652	rs4500938	A	G	174.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4500938;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277061.1|protein_coding|5/10|c.429+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277062.1|protein_coding|4/8|c.351+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277063.1|protein_coding|4/7|c.351+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277064.1|protein_coding|4/7|c.351+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277065.1|protein_coding|4/6|c.351+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277066.1|protein_coding|3/5|c.351+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NR_102266.1|pseudogene|2/4|n.447+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_020194.5|protein_coding|5/10|c.429+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277067.1|protein_coding|4/7|c.201+64A>G||||||,G|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277068.1|protein_coding|3/7|c.351+64A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4206;p3_1000G_AF=0.839856;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=17782;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228197368;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:203,15,0
chr2	227340213	rs4420693	C	T	321.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4420693;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277061.1|protein_coding|5/10|c.430-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277062.1|protein_coding|4/8|c.352-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277063.1|protein_coding|4/7|c.352-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277064.1|protein_coding|4/7|c.352-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277065.1|protein_coding|4/6|c.352-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277066.1|protein_coding|3/5|c.352-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NR_102266.1|pseudogene|2/4|n.448-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_020194.5|protein_coding|5/10|c.430-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277067.1|protein_coding|4/7|c.202-79C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277068.1|protein_coding|3/7|c.352-79C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4205;p3_1000G_AF=0.839657;p3_1000G_AFR_AF=0.6384;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=17058;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228204929;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:350,30,0
chr2	227340266	rs4442987	C	T	373.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.15;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4442987;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277061.1|protein_coding|5/10|c.430-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277062.1|protein_coding|4/8|c.352-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277063.1|protein_coding|4/7|c.352-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277064.1|protein_coding|4/7|c.352-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277065.1|protein_coding|4/6|c.352-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277066.1|protein_coding|3/5|c.352-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NR_102266.1|pseudogene|2/4|n.448-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_020194.5|protein_coding|5/10|c.430-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277067.1|protein_coding|4/7|c.202-26C>T||||||,T|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277068.1|protein_coding|3/7|c.352-26C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4205;p3_1000G_AF=0.839657;p3_1000G_AFR_AF=0.6384;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=16840;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.9334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228204982;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9202;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2961,1445;ESP6500_AA_AGE=675.5+/-403.1;ESP6500_AA_GTC=991,979,233;ESP6500_CDS_SIZES=NM_020194.4:1029;ESP6500_CG=3.6;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=47;ESP6500_EA_AC=8254,346;ESP6500_EA_AGE=801.0+/-407.4;ESP6500_EA_GTC=3965,324,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020194.4:intron;ESP6500_GL=MFF;ESP6500_GRCh38_POSITION=2:227340266;ESP6500_GTC=4956,1303,244;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020194.4:c.430-26C>T;ESP6500_MAF=4.0233,32.7962,13.7706;ESP6500_TAC=11215,1791	GT:AD:DP:GQ:PL	1/1:0,12:12:36:402,36,0
chr2	227342909	rs6738078	G	A	751.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6738078;dbSNPBuildID=116;ANN=A|sequence_feature|MODERATE|MFF|MFF|modified-residue:phosphothreonine|NM_001277061.1|protein_coding|7/10|c.593+90G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277061.1|protein_coding|7/10|c.593+90G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277062.1|protein_coding|5/8|c.440+2529G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277063.1|protein_coding|6/7|c.515+90G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277064.1|protein_coding|5/7|c.440+2529G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277065.1|protein_coding|5/6|c.440+2529G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277066.1|protein_coding|4/5|c.440+2529G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NR_102266.1|pseudogene|3/4|n.536+2529G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_020194.5|protein_coding|7/10|c.593+90G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277067.1|protein_coding|5/7|c.290+2529G>A||||||,A|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277068.1|protein_coding|4/7|c.440+2529G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3658;p3_1000G_AF=0.730431;p3_1000G_AFR_AF=0.5151;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=18406;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.7853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228207625;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8528;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,21:21:63:1|1:227342889_C_A:780,63,0
chr2	227355812	rs12478005	T	C	612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.69;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12478005;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277061.1|protein_coding|10/10|c.897+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277062.1|protein_coding|8/8|c.744+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277063.1|protein_coding|7/7|c.600+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277064.1|protein_coding|7/7|c.585+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277065.1|protein_coding|6/6|c.525+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277066.1|protein_coding|5/5|c.525+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NR_102266.1|pseudogene|4/4|n.621+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_020194.5|protein_coding|10/10|c.897+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277067.1|protein_coding|7/7|c.534+51T>C||||||,C|intron_variant|MODIFIER|MFF|MFF|transcript|NM_001277068.1|protein_coding|7/7|c.627+51T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1681;p3_1000G_AF=0.335663;p3_1000G_AFR_AF=0.2231;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=18288;p3_1000G_EAS_AF=0.4355;p3_1000G_EUR_AF=0.3429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228220528;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1026,3380;ESP6500_AA_GTC=111,804,1288;ESP6500_CDS_SIZES=NM_020194.4:1029;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=51;ESP6500_EA_AC=2928,5668;ESP6500_EA_GTC=522,1884,1892;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020194.4:intron;ESP6500_GL=MFF;ESP6500_GRCh38_POSITION=2:227355812;ESP6500_GTC=633,2688,3180;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020194.4:c.897+51T>C;ESP6500_MAF=34.0624,23.2864,30.4107;ESP6500_TAC=3954,9048	GT:AD:DP:GQ:PL	1/1:0,17:17:51:641,51,0
chr2	227491648	rs11289047;rs397988103;rs550845036	GT	G	308.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.092;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=0.807;SOR=1.371;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11289047;dbSNPBuildID=137,142,138;ANN=G|intron_variant|MODIFIER|AGFG1|AGFG1|transcript|NM_001135187.1|protein_coding|2/13|c.261+23delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|AGFG1|AGFG1|transcript|NM_001135188.1|protein_coding|2/12|c.261+23delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|AGFG1|AGFG1|transcript|NM_001135189.1|protein_coding|2/11|c.261+23delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|AGFG1|AGFG1|transcript|NM_004504.4|protein_coding|2/12|c.261+23delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,17:21:36:346,0,36
chr2	227508688	rs11464376;rs398105409	A	AT	284.8	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.616;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.391;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11464376;dbSNPBuildID=137,138;ANN=AT|intron_variant|MODIFIER|AGFG1|AGFG1|transcript|NM_001135187.1|protein_coding|2/13|c.262-11247dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|AGFG1|AGFG1|transcript|NM_001135188.1|protein_coding|2/12|c.262-11247dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|AGFG1|AGFG1|transcript|NM_001135189.1|protein_coding|2/11|c.262-11247dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|AGFG1|AGFG1|transcript|NM_004504.4|protein_coding|2/12|c.262-11247dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2631;p3_1000G_AF=0.525359;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=19077;p3_1000G_EAS_AF=0.5734;p3_1000G_EUR_AF=0.5189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228373404;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5849;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,14:15:18:322,18,0
chr2	227551996	rs13426457	A	G	3528.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=117;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.16;SOR=0.896;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13426457;dbSNPBuildID=121;ANN=G|synonymous_variant|LOW|AGFG1|AGFG1|transcript|NM_001135187.1|protein_coding|12/14|c.1488A>G|p.Thr496Thr|1738/8732|1488/1755|496/584||,G|synonymous_variant|LOW|AGFG1|AGFG1|transcript|NM_001135188.1|protein_coding|11/13|c.1416A>G|p.Thr472Thr|1666/8660|1416/1683|472/560||,G|synonymous_variant|LOW|AGFG1|AGFG1|transcript|NM_001135189.1|protein_coding|10/12|c.1296A>G|p.Thr432Thr|1546/8546|1296/1569|432/522||,G|synonymous_variant|LOW|AGFG1|AGFG1|transcript|NM_004504.4|protein_coding|11/13|c.1416A>G|p.Thr472Thr|1666/8666|1416/1689|472/562||;p3_1000G_AA=G|||;p3_1000G_AC=3842;p3_1000G_AF=0.767173;p3_1000G_AFR_AF=0.8578;p3_1000G_AMR_AF=0.7161;p3_1000G_AN=5008;p3_1000G_DP=18033;p3_1000G_EAS_AF=0.6885;p3_1000G_EUR_AF=0.7097;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228416712;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3640,766;ESP6500_AA_AGE=313.3+/-293.0;ESP6500_AA_GTC=1498,644,61;ESP6500_CDS_SIZES=NM_004504.4:1689,NM_001135189.1:1569,NM_001135188.1:1683,NM_001135187.1:1755;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=140;ESP6500_EA_AC=6207,2393;ESP6500_EA_AGE=398.2+/-346.0;ESP6500_EA_GTC=2263,1681,356;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004504.4:coding-synonymous,NM_001135189.1:coding-synonymous,NM_001135188.1:coding-synonymous,NM_001135187.1:coding-synonymous;ESP6500_GL=AGFG1;ESP6500_GRCh38_POSITION=2:227551996;ESP6500_GTC=3761,2325,417;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004504.4:c.1416A>G,NM_001135189.1:c.1296A>G,NM_001135188.1:c.1416A>G,NM_001135187.1:c.1488A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004504.4:p.(T472),NM_001135189.1:p.(T432),NM_001135188.1:p.(T472),NM_001135187.1:p.(T496);ESP6500_MAF=27.8256,17.3854,24.2888;ESP6500_TAC=9847,3159	GT:AD:DP:GQ:PL	1/1:0,117:117:99:3557,351,0
chr2	227611424	rs2176186	C	T	1806.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=1.571;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2176186;dbSNPBuildID=96;ANN=T|stop_gained|HIGH|C2orf83|C2orf83|transcript|NM_020161.3|protein_coding|3/3|c.423G>A|p.Trp141*|658/1992|423/453|141/150||,T|3_prime_UTR_variant|MODIFIER|C2orf83|C2orf83|transcript|NM_001162483.1|protein_coding|4/4|c.*227G>A|||||227|;p3_1000G_AA=T|||;p3_1000G_AC=1572;p3_1000G_AF=0.313898;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=18581;p3_1000G_EAS_AF=0.4058;p3_1000G_EUR_AF=0.2753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228476140;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1024,3382;ESP6500_AA_AGE=727.6+/-409.9;ESP6500_AA_GTC=113,798,1292;ESP6500_CDS_SIZES=NM_020161.3:453,NM_001162483.1:291;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=156;ESP6500_EA_AC=2628,5972;ESP6500_EA_AGE=687.1+/-404.2;ESP6500_EA_GTC=382,1864,2054;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020161.3:stop-gained,NM_001162483.1:utr-3;ESP6500_GL=C2orf83;ESP6500_GRCh38_POSITION=2:227611424;ESP6500_GTC=495,2662,3346;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020161.3:c.423G>A,NM_001162483.1:c.*227G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020161.3:p.(W141*),.;ESP6500_MAF=30.5581,23.241,28.0793;ESP6500_TAC=3652,9354	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1835,179,0
chr2	227611537	rs2138402	C	G	2407.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=1.24;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2138402;dbSNPBuildID=96;ANN=G|missense_variant|MODERATE|C2orf83|C2orf83|transcript|NM_020161.3|protein_coding|3/3|c.310G>C|p.Glu104Gln|545/1992|310/453|104/150||,G|3_prime_UTR_variant|MODIFIER|C2orf83|C2orf83|transcript|NM_001162483.1|protein_coding|4/4|c.*114G>C|||||114|;p3_1000G_AA=G|||;p3_1000G_AC=4215;p3_1000G_AF=0.841653;p3_1000G_AFR_AF=0.593;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=16056;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.9046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228476253;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2969,1437;ESP6500_AA_AGE=465.9+/-354.3;ESP6500_AA_GTC=1011,947,245;ESP6500_CDS_SIZES=NM_020161.3:453,NM_001162483.1:291;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=103;ESP6500_EA_AC=7685,915;ESP6500_EA_AGE=203.2+/-246.3;ESP6500_EA_GTC=3432,821,47;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020161.3:missense,NM_001162483.1:utr-3;ESP6500_GL=C2orf83;ESP6500_GRCh38_POSITION=2:227611537;ESP6500_GS=29,.;ESP6500_GTC=4443,1768,292;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020161.3:c.310G>C,NM_001162483.1:c.*114G>C;ESP6500_HGVS_PROTEIN_VAR=NM_020161.3:p.(E104Q),.;ESP6500_MAF=10.6395,32.6146,18.084;ESP6500_PH=benign:0.0,.;ESP6500_TAC=10654,2352	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2436,225,0
chr2	227688354	rs73997321	G	A	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.409;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=3.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=-1.499;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73997321;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|SLC19A3|SLC19A3|transcript|NM_025243.3|protein_coding|4/5|c.1173-47C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=187;p3_1000G_AF=0.0373403;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=20863;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228553070;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=150,4256;ESP6500_AA_AGE=98.5+/-137.1;ESP6500_AA_GTC=2,146,2055;ESP6500_CDS_SIZES=NM_025243.3:1491;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=29;ESP6500_EA_AC=399,8197;ESP6500_EA_AGE=121.0+/-180.1;ESP6500_EA_GTC=15,369,3914;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025243.3:intron;ESP6500_GL=SLC19A3;ESP6500_GRCh38_POSITION=2:227688354;ESP6500_GTC=17,515,5969;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025243.3:c.1173-47C>T;ESP6500_MAF=4.6417,3.4044,4.2224;ESP6500_TAC=549,12453	GT:AD:DP:GQ:PL	0/1:9,11:20:99:369,0,308
chr2	227696084	rs11334205;215155	GA	G	268.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11334205;dbSNPBuildID=132;ANN=G|splice_region_variant&intron_variant|LOW|SLC19A3|SLC19A3|transcript|NM_025243.3|protein_coding|3/5|c.980-4delT||||||;p3_1000G_AA=aaaaaaaa|AAAAAAAA|AAAAAAA|deletion;p3_1000G_AC=4714;p3_1000G_AF=0.941294;p3_1000G_AFR_AF=0.7882;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=18612;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228560800;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=3505,761;ESP6500_AA_GTC=1441,623,69;ESP6500_CDS_SIZES=NM_025243.3:1491;ESP6500_CG=2.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=39;ESP6500_EA_AC=8248,6;ESP6500_EA_GTC=4121,6,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025243.3:intron;ESP6500_GL=SLC19A3;ESP6500_GRCh38_POSITION=2:227696084;ESP6500_GTC=5562,629,69;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025243.3:c.980-4del1;ESP6500_MAF=0.0727,17.8387,6.1262;ESP6500_TAC=11753,767;CLINVAR_ALLELEID=210790;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239434;CLINVAR_CLNDN=not_specified|Thiamine_Metabolism_Dysfunction_Syndrome;CLINVAR_CLNHGVS=NC_000002.12:g.227696085delA;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498258;CLINVAR_GENEINFO=SLC19A3:80704;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11334205	GT:AD:DP:GQ:PL	1/1:0,10:10:30:306,30,0
chr2	227696118	rs398091128;rs79287293;~rs79287293	C	CT	82.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0;SOR=1.981;INS;HET;VARTYPE=INS;dbSNP138_ID=rs79287293;dbSNPBuildID=138,138;ANN=CT|intron_variant|MODIFIER|SLC19A3|SLC19A3|transcript|NM_025243.3|protein_coding|3/5|c.980-38dupA||||||;p3_1000G_AA=ttt|TTT|TTTT|insertion;p3_1000G_AC=600;p3_1000G_AF=0.119808;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.2219;p3_1000G_AN=5008;p3_1000G_DP=19094;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228560834;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1329;p3_1000G_VT=INDEL;ESP6500_AA_AC=122,4140;ESP6500_AA_GTC=1,120,2010;ESP6500_CDS_SIZES=NM_025243.3:1491;ESP6500_CG=3.5;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=29;ESP6500_EA_AC=1056,7198;ESP6500_EA_GTC=64,928,3135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025243.3:intron;ESP6500_GL=SLC19A3;ESP6500_GRCh38_POSITION=2:227696118;ESP6500_GTC=65,1048,5145;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_025243.3:c.980-38_980-37insA;ESP6500_MAF=12.7938,2.8625,9.412;ESP6500_TAC=1178,11338	GT:AD:DP:GQ:PL	0/1:1,4:5:19:120,0,19
chr2	227698631	rs62191374	C	T	21.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-0.792;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62191374;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|SLC19A3|SLC19A3|transcript|NM_025243.3|protein_coding|3/5|c.979+105G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=188;p3_1000G_AF=0.0375399;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=19971;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228563347;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:50:50,0,193
chr2	227702382	rs6713116	C	T	569.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.768;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.873;SOR=0.683;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6713116;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SLC19A3|SLC19A3|transcript|NM_025243.3|protein_coding|1/5|c.-2-62G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=892;p3_1000G_AF=0.178115;p3_1000G_AFR_AF=0.1891;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=19587;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228567098;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,21:48:99:598,0,775
chr2	227702395	rs71039629	AT	A	170.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.843;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=2.948;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=2.23;SOR=1.931;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71039629;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|SLC19A3|SLC19A3|transcript|NM_025243.3|protein_coding|1/5|c.-2-76delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3098;p3_1000G_AF=0.61861;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=20286;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228567111;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,12:19:99:208,0,173
chr2	227871597	rs12478068	G	T	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.86;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=5.129;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=0.725;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12478068;dbSNPBuildID=120;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|DAW1|DAW1|transcript|NM_178821.2|protein_coding|1/13|c.-93G>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|1/14|c.-190G>T||||||,T|5_prime_UTR_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|1/13|c.-93G>T|||||93|,T|5_prime_UTR_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|1/14|c.-190G>T|||||13759|,T|non_coding_transcript_exon_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|1/14|n.222G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2479;p3_1000G_AF=0.495008;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=14906;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.4592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228736313;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,6:16:99:159,0,214
chr2	227871811	rs12470042	A	G	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.529;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-1.518;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12470042;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|1/12|c.40+82A>G||||||,G|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|1/13|c.-58+82A>G||||||,G|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|1/13|n.354+82A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2494;p3_1000G_AF=0.498003;p3_1000G_AFR_AF=0.4902;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=13429;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.4602;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228736527;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4857;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=634,750;ESP6500_AA_GTC=138,358,196;ESP6500_CDS_SIZES=NM_178821.1:1248;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=19;ESP6500_EA_AC=1547,1635;ESP6500_EA_GTC=375,797,419;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178821.1:intron;ESP6500_GL=WDR69;ESP6500_GRCh38_POSITION=2:227871811;ESP6500_GTC=513,1155,615;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178821.1:c.40+82A>G;ESP6500_MAF=48.6172,45.8092,47.7661;ESP6500_TAC=2181,2385	GT:AD:DP:GQ:PL	0/1:8,5:13:99:127,0,245
chr2	227876534	rs7571353	T	A	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.712;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=1.31;SOR=0.668;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7571353;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|1/12|c.40+4805T>A||||||,A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|2/13|c.-6+40T>A||||||,A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|1/13|n.354+4805T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2107;p3_1000G_AF=0.420727;p3_1000G_AFR_AF=0.2095;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=20055;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228741250;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,23:54:99:0|1:227876534_T_A:536,0,785
chr2	227885523	rs4973445	G	T	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.434;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.872;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4973445;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|2/12|c.113+100G>T||||||,T|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|3/13|c.68+100G>T||||||,T|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|2/13|n.427+100G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2745;p3_1000G_AF=0.548123;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=15687;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.5268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228750239;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:219,0,213
chr2	227893740	rs35758334	C	A	1255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.803;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=1.73;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.22;SOR=0.935;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35758334;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|4/12|c.318-55C>A||||||,A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|5/13|c.273-55C>A||||||,A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|4/13|n.632-55C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2031;p3_1000G_AF=0.405551;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.6009;p3_1000G_AN=5008;p3_1000G_DP=22664;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.4583;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228758456;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4939;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1284,0,1182
chr2	227902902	rs2949014	T	C	889.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.12;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2949014;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|6/12|c.541-100T>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|7/13|c.496-100T>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|6/13|n.855-100T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4843;p3_1000G_AF=0.967053;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=20162;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228767618;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:918,72,0
chr2	227902915	rs2946931	G	T	382.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.7;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.662;SOR=0.324;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2946931;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|6/12|c.541-87G>T||||||,T|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|7/13|c.496-87G>T||||||,T|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|6/13|n.855-87G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1803;p3_1000G_AF=0.360024;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=20179;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228767631;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3967;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,14:28:99:411,0,442
chr2	227912222	rs3748863	A	G	2181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.85;ClippingRankSum=0;DP=179;ExcessHet=3.0103;FS=3.548;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.199;SOR=0.978;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748863;dbSNPBuildID=107;ANN=G|sequence_feature|LOW|DAW1|DAW1|antibody-mapping:heterologous_protein_expression_evidence|NM_178821.2|protein_coding|10/12|c.973+4970A>G||||||,G|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|10/12|c.973+4970A>G||||||,G|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|11/13|c.928+4970A>G||||||,G|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|10/13|n.1288-32A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2027;p3_1000G_AF=0.404752;p3_1000G_AFR_AF=0.3283;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=26703;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.3171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228776938;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:96,78:174:99:2210,0,2392
chr2	227912280	rs3748862	T	C	1796.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.34;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=2.332;MLEAC=1;MLEAF=0.5;MQ=59.87;MQRankSum=1.08;QD=14.85;ReadPosRankSum=1.1;SOR=0.509;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3748862;dbSNPBuildID=107;ANN=C|sequence_feature|LOW|DAW1|DAW1|antibody-mapping:heterologous_protein_expression_evidence|NM_178821.2|protein_coding|10/12|c.973+5028T>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|10/12|c.973+5028T>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|11/13|c.928+5028T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|11/14|n.1314T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2087;p3_1000G_AF=0.416733;p3_1000G_AFR_AF=0.3911;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=23721;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228776996;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1825,0,1468
chr2	227918648	rs4973494	A	C	221.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4973494;dbSNPBuildID=111;ANN=C|sequence_feature|LOW|DAW1|DAW1|antibody-mapping:heterologous_protein_expression_evidence|NM_178821.2|protein_coding|10/12|c.974-132A>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|10/12|c.974-132A>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|11/13|c.929-132A>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|11/13|n.1504-132A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4326;p3_1000G_AF=0.863818;p3_1000G_AFR_AF=0.8744;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=17708;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.8827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228783364;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:250,18,0
chr2	227918763	rs1533960	C	A	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.6;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=0.547;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1533960;dbSNPBuildID=88;ANN=A|sequence_feature|LOW|DAW1|DAW1|antibody-mapping:heterologous_protein_expression_evidence|NM_178821.2|protein_coding|10/12|c.974-17C>A||||||,A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|10/12|c.974-17C>A||||||,A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|11/13|c.929-17C>A||||||,A|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|11/13|n.1504-17C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=834;p3_1000G_AF=0.166534;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.1441;p3_1000G_AN=5008;p3_1000G_DP=16433;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228783479;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=480,3926;ESP6500_AA_AGE=223.0+/-239.6;ESP6500_AA_GTC=32,416,1755;ESP6500_CDS_SIZES=NM_178821.1:1248;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=52;ESP6500_EA_AC=2255,6345;ESP6500_EA_AGE=378.3+/-338.9;ESP6500_EA_GTC=292,1671,2337;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178821.1:intron;ESP6500_GL=WDR69;ESP6500_GRCh38_POSITION=2:227918763;ESP6500_GTC=324,2087,4092;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_178821.1:c.974-17C>A;ESP6500_MAF=26.2209,10.8942,21.0288;ESP6500_TAC=2735,10271	GT:AD:DP:GQ:PL	0/1:13,10:23:99:222,0,336
chr2	227923768	rs1721344	T	C	29.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.25;ReadPosRankSum=-1.981;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1721344;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_178821.2|protein_coding|12/12|c.1214-166T>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NM_001330004.1|protein_coding|13/13|c.1169-166T>C||||||,C|intron_variant|MODIFIER|DAW1|DAW1|transcript|NR_138459.1|pseudogene|13/13|n.1744-166T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2038;p3_1000G_AF=0.406949;p3_1000G_AFR_AF=0.354;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=18535;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.5656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228788484;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:58:58,0,142
chr2	227991242	rs16824284	T	C	1680.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.96;SOR=0.9;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs16824284;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|SPHKAP|SPHKAP|transcript|NM_001142644.1|protein_coding|10/11|c.4774+32A>G||||||,C|intron_variant|MODIFIER|SPHKAP|SPHKAP|transcript|NM_030623.3|protein_coding|9/10|c.4687+32A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1280;p3_1000G_AF=0.255591;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=18814;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.1561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228855958;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1267,3139;ESP6500_AA_AGE=433.9+/-343.8;ESP6500_AA_GTC=200,867,1136;ESP6500_CDS_SIZES=NM_030623.3:5016,NM_001142644.1:5103;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=143;ESP6500_EA_AC=1356,7244;ESP6500_EA_AGE=265.3+/-286.1;ESP6500_EA_GTC=109,1138,3053;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030623.3:intron,NM_001142644.1:intron;ESP6500_GL=SPHKAP;ESP6500_GRCh38_POSITION=2:227991242;ESP6500_GTC=309,2005,4189;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_030623.3:c.4687+32A>G,NM_001142644.1:c.4774+32A>G;ESP6500_MAF=15.7674,28.7562,20.1676;ESP6500_TAC=2623,10383	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1709,153,0
chr2	228018254	rs3828161	T	C	2709.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.87;SOR=0.743;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3828161;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|SPHKAP|SPHKAP|transcript|NM_001142644.1|protein_coding|7/12|c.2600A>G|p.Gln867Arg|2647/6913|2600/5103|867/1700||,C|missense_variant|MODERATE|SPHKAP|SPHKAP|transcript|NM_030623.3|protein_coding|7/11|c.2600A>G|p.Gln867Arg|2647/6826|2600/5016|867/1671||;p3_1000G_AA=T|||;p3_1000G_AC=1235;p3_1000G_AF=0.246605;p3_1000G_AFR_AF=0.2874;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=20550;p3_1000G_EAS_AF=0.3998;p3_1000G_EUR_AF=0.1581;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228882970;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1280,3126;ESP6500_AA_AGE=435.9+/-344.5;ESP6500_AA_GTC=195,890,1118;ESP6500_CDS_SIZES=NM_030623.3:5016,NM_001142644.1:5103;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=567;ESP6500_EA_AC=1370,7230;ESP6500_EA_AGE=267.6+/-287.4;ESP6500_EA_GTC=110,1150,3040;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030623.3:missense,NM_001142644.1:missense;ESP6500_GL=SPHKAP;ESP6500_GRCh38_POSITION=2:228018254;ESP6500_GS=43,43;ESP6500_GTC=305,2040,4158;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_030623.3:c.2600A>G,NM_001142644.1:c.2600A>G;ESP6500_HGVS_PROTEIN_VAR=NM_030623.3:p.(Q867R),NM_001142644.1:p.(Q867R);ESP6500_MAF=15.9302,29.0513,20.3752;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=2650,10356	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2738,240,0
chr2	228019005	rs3811514	T	C	2520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.06;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3811514;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|SPHKAP|SPHKAP|transcript|NM_001142644.1|protein_coding|7/12|c.1849A>G|p.Lys617Glu|1896/6913|1849/5103|617/1700||,C|missense_variant|MODERATE|SPHKAP|SPHKAP|transcript|NM_030623.3|protein_coding|7/11|c.1849A>G|p.Lys617Glu|1896/6826|1849/5016|617/1671||;p3_1000G_AA=C|||;p3_1000G_AC=3210;p3_1000G_AF=0.640974;p3_1000G_AFR_AF=0.7693;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=21336;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.4891;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228883721;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3248,1158;ESP6500_AA_AGE=406.0+/-333.7;ESP6500_AA_GTC=1196,856,151;ESP6500_CDS_SIZES=NM_030623.3:5016,NM_001142644.1:5103;ESP6500_CG=4.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=45;ESP6500_EA_AC=4291,4309;ESP6500_EA_AGE=575.2+/-390.2;ESP6500_EA_GTC=1083,2125,1092;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030623.3:missense,NM_001142644.1:missense;ESP6500_GL=SPHKAP;ESP6500_GRCh38_POSITION=2:228019005;ESP6500_GS=56,56;ESP6500_GTC=2279,2981,1243;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_030623.3:c.1849A>G,NM_001142644.1:c.1849A>G;ESP6500_HGVS_PROTEIN_VAR=NM_030623.3:p.(K617E),NM_001142644.1:p.(K617E);ESP6500_MAF=49.8953,26.2823,42.0344;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7539,5467	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2549,222,0
chr2	228108944	rs7561798	A	G	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.041;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.9;ReadPosRankSum=-2.059;SOR=0.344;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7561798;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|SPHKAP|SPHKAP|transcript|NM_001142644.1|protein_coding|2/11|c.139-5T>C||||||,G|splice_region_variant&intron_variant|LOW|SPHKAP|SPHKAP|transcript|NM_030623.3|protein_coding|2/10|c.139-5T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2397;p3_1000G_AF=0.478634;p3_1000G_AFR_AF=0.3064;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=15669;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.4751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=228973660;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1461,2945;ESP6500_AA_AGE=667.6+/-401.9;ESP6500_AA_GTC=226,1009,968;ESP6500_CDS_SIZES=NM_030623.3:5016,NM_001142644.1:5103;ESP6500_CG=3.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=52;ESP6500_EA_AC=4172,4428;ESP6500_EA_AGE=572.4+/-389.7;ESP6500_EA_GTC=1005,2162,1133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030623.3:intron,NM_001142644.1:intron;ESP6500_GL=SPHKAP;ESP6500_GRCh38_POSITION=2:228108944;ESP6500_GTC=1231,3171,2101;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_030623.3:c.139-5T>C,NM_001142644.1:c.139-5T>C;ESP6500_MAF=48.5116,33.1593,43.3108;ESP6500_TAC=5633,7373	GT:AD:DP:GQ:PL	0/1:16,6:22:99:114,0,435
chr2	229155791	rs17614185	A	G	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.59;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.251;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.279;SOR=1.755;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17614185;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330156.1|protein_coding|2/2|c.276+27T>C||||||,G|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001100818.1|protein_coding|2/2|c.177+27T>C||||||,G|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330157.1|protein_coding|1/1|c.30+115223T>C||||||,G|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330158.1|protein_coding|3/3|c.135+27T>C||||||,G|intron_variant|MODIFIER|PID1|PID1|transcript|NM_017933.4|protein_coding|3/3|c.270+27T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=771;p3_1000G_AF=0.153954;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0519;p3_1000G_AN=5008;p3_1000G_DP=16669;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0.0855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230020507;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2832;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=340,4066;ESP6500_AA_AGE=172.7+/-202.6;ESP6500_AA_GTC=18,304,1881;ESP6500_CDS_SIZES=NM_017933.4:747,NM_001100818.1:654;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=70;ESP6500_EA_AC=677,7923;ESP6500_EA_AGE=162.7+/-215.4;ESP6500_EA_GTC=22,633,3645;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017933.4:intron,NM_001100818.1:intron;ESP6500_GL=PID1;ESP6500_GRCh38_POSITION=2:229155791;ESP6500_GTC=40,937,5526;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017933.4:c.270+27T>C,NM_001100818.1:c.177+27T>C;ESP6500_MAF=7.8721,7.7167,7.8195;ESP6500_TAC=1017,11989	GT:AD:DP:GQ:PL	0/1:11,7:18:99:242,0,299
chr2	229228007	rs1362242	G	A	288.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.733;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=3.821;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.28;SOR=0.49;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1362242;dbSNPBuildID=88;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|PID1|PID1|transcript|NM_001330158.1|protein_coding|2/4|c.-63C>T||||||,A|5_prime_UTR_variant|MODIFIER|PID1|PID1|transcript|NM_001330158.1|protein_coding|2/4|c.-63C>T|||||72055|,A|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330156.1|protein_coding|1/2|c.129+3919C>T||||||,A|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001100818.1|protein_coding|1/2|c.30+43007C>T||||||,A|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330157.1|protein_coding|1/1|c.30+43007C>T||||||,A|intron_variant|MODIFIER|PID1|PID1|transcript|NM_017933.4|protein_coding|2/3|c.123+34676C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=712;p3_1000G_AF=0.142173;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=18594;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.1829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230092723;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1616;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,13:22:99:317,0,223
chr2	229228173	rs1419944	C	T	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.842;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1419944;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330156.1|protein_coding|1/2|c.129+3753G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001100818.1|protein_coding|1/2|c.30+42841G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330157.1|protein_coding|1/1|c.30+42841G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330158.1|protein_coding|1/3|c.-119-110G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_017933.4|protein_coding|2/3|c.123+34510G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1995;p3_1000G_AF=0.398363;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=18526;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.2793;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230092889;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:58:92,0,58
chr2	229231871	rs1226982	C	T	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.44;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-0.674;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1226982;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330156.1|protein_coding|1/2|c.129+55G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001100818.1|protein_coding|1/2|c.30+39143G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330157.1|protein_coding|1/1|c.30+39143G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330158.1|protein_coding|1/3|c.-119-3808G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_017933.4|protein_coding|2/3|c.123+30812G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1795;p3_1000G_AF=0.358427;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=21645;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.2783;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230096587;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:69:69,0,96
chr2	229232121	rs6743582	C	T	144.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.467;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-0.562;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6743582;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|PID1|PID1|transcript|NM_001330156.1|protein_coding||c.-67G>A|||||29|,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001100818.1|protein_coding|1/2|c.30+38893G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330157.1|protein_coding|1/1|c.30+38893G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330158.1|protein_coding|1/3|c.-119-4058G>A||||||,T|intron_variant|MODIFIER|PID1|PID1|transcript|NM_017933.4|protein_coding|2/3|c.123+30562G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2251;p3_1000G_AF=0.449481;p3_1000G_AFR_AF=0.6346;p3_1000G_AMR_AF=0.428;p3_1000G_AN=5008;p3_1000G_DP=16300;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.5417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230096837;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:173,0,312
chr2	229270995	rs67686611;~rs67686611	G	GC	1157.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.87;SOR=0.818;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs67686611;dbSNPBuildID=130;ANN=GC|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001100818.1|protein_coding|1/2|c.30+18dupG||||||,GC|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330157.1|protein_coding|1/1|c.30+18dupG||||||,GC|intron_variant|MODIFIER|PID1|PID1|transcript|NM_001330158.1|protein_coding|1/3|c.-120+18dupG||||||,GC|intron_variant|MODIFIER|PID1|PID1|transcript|NM_017933.4|protein_coding|1/3|c.-89+18dupG||||||;p3_1000G_AA=CC|C|CC|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=10807;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230135711;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=2999,11;ESP6500_AA_GTC=1497,5,3;ESP6500_CDS_SIZES=NM_017933.4:747,NM_001100818.1:654;ESP6500_CG=3.9;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=9;ESP6500_EA_AC=6631,11;ESP6500_EA_GTC=3315,1,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017933.4:intron,NM_001100818.1:intron;ESP6500_GL=PID1;ESP6500_GRCh38_POSITION=2:229270995;ESP6500_GTC=4812,6,8;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_017933.4:c.-8191_-8190insG,NM_001100818.1:c.30+18_30+19insG;ESP6500_MAF=0.1656,0.3654,0.2279;ESP6500_TAC=9630,22	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1195,96,0
chr2	229588498	rs11458391;rs371243645	G	GA	574.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.11;ReadPosRankSum=-1.295;SOR=0.402;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11458391;dbSNPBuildID=137;ANN=GA|intron_variant|MODIFIER|DNER|DNER|transcript|NM_139072.3|protein_coding|2/12|c.586-11dupT||||||;p3_1000G_AC=2871;p3_1000G_AF=0.573283;p3_1000G_AFR_AF=0.5673;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=17720;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.6014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230453214;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5204;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	1/1:2,24:26:16:607,16,0
chr2	229785820	rs189366062	C	T	316.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.457;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.11;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189366062;dbSNPBuildID=135;ANN=T|synonymous_variant|LOW|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|34/42|c.4950G>A|p.Ala1650Ala|5129/10019|4950/6123|1650/2040||,T|synonymous_variant|LOW|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|32/40|c.4905G>A|p.Ala1635Ala|4954/9844|4905/6078|1635/2025||,T|synonymous_variant|LOW|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|31/39|c.3996G>A|p.Ala1332Ala|4175/9065|3996/5169|1332/1722||,T|synonymous_variant|LOW|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|33/41|c.4806G>A|p.Ala1602Ala|4985/9875|4806/5979|1602/1992||;p3_1000G_AA=C|||;p3_1000G_AC=16;p3_1000G_AF=0.00319489;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18342;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230650536;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,16:34:99:345,0,412
chr2	229791017	rs722268	C	T	243.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs722268;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|30/41|c.4462+107G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|28/39|c.4417+107G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|27/38|c.3508+107G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|29/40|c.4318+107G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4837;p3_1000G_AF=0.965855;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.9568;p3_1000G_AN=5008;p3_1000G_DP=17160;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230655733;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:272,24,0
chr2	229792271	rs374041177	TA	T	35.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.501;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=0.723;SOR=0.283;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs374041177;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|27/41|c.4061-46delT||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|25/39|c.4016-46delT||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|24/38|c.3107-46delT||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|26/40|c.3917-46delT||||||;ESP6500_AA_AC=134,1088,3044;ESP6500_AA_GTC=0,0,134,0,1088,911;ESP6500_CDS_SIZES=NM_004238.1:5979,NM_004238.1:5979;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DP=89;ESP6500_EA_AC=223,2202,5829;ESP6500_EA_GTC=0,0,223,0,2202,1702;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004238.1:intron,NM_004238.1:intron;ESP6500_GL=TRIP12;ESP6500_GRCh38_POSITION=2:229792271;ESP6500_GTC=0,0,357,0,3290,2613;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_004238.1:c.3917-46del1,NM_004238.1:c.3917-46_3917-45insT;ESP6500_MAF=29.3797,28.6451,29.1294;ESP6500_TAC=357,3290,8873	GT:AD:DP:GQ:PL	0/1:7,4:11:73:73,0,152
chr2	229798860	rs6720868	C	T	569.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.412;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.631;SOR=0.432;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6720868;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|23/41|c.3401+15G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|21/39|c.3356+15G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|20/38|c.2447+15G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|22/40|c.3257+15G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1684;p3_1000G_AF=0.336262;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=19179;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.3449;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230663576;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2045,2361;ESP6500_AA_AGE=609.2+/-391.3;ESP6500_AA_GTC=481,1083,639;ESP6500_CDS_SIZES=NM_004238.1:5979;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=2805,5795;ESP6500_EA_AGE=676.8+/-403.3;ESP6500_EA_GTC=443,1919,1938;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004238.1:intron;ESP6500_GL=TRIP12;ESP6500_GRCh38_POSITION=2:229798860;ESP6500_GTC=924,3002,2577;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004238.1:c.3257+15G>A;ESP6500_MAF=32.6163,46.414,37.2905;ESP6500_TAC=4850,8156	GT:AD:DP:GQ:PL	0/1:23,24:47:99:598,0,672
chr2	229804142	rs13018957	T	C	699.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.363;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.894;SOR=0.561;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13018957;dbSNPBuildID=121;ANN=C|synonymous_variant|LOW|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|19/42|c.2655A>G|p.Thr885Thr|2834/10019|2655/6123|885/2040||,C|synonymous_variant|LOW|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|17/40|c.2610A>G|p.Thr870Thr|2659/9844|2610/6078|870/2025||,C|synonymous_variant|LOW|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|16/39|c.1701A>G|p.Thr567Thr|1880/9065|1701/5169|567/1722||,C|synonymous_variant|LOW|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|18/41|c.2511A>G|p.Thr837Thr|2690/9875|2511/5979|837/1992||;p3_1000G_AA=T|||;p3_1000G_AC=1757;p3_1000G_AF=0.350839;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=16773;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.5089;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230668858;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=940,3466;ESP6500_AA_AGE=353.1+/-312.0;ESP6500_AA_GTC=109,722,1372;ESP6500_CDS_SIZES=NM_004238.1:5979;ESP6500_CG=-6.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=88;ESP6500_EA_AC=4135,4465;ESP6500_EA_AGE=563.9+/-388.2;ESP6500_EA_GTC=999,2137,1164;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004238.1:coding-synonymous;ESP6500_GL=TRIP12;ESP6500_GRCh38_POSITION=2:229804142;ESP6500_GTC=1108,2859,2536;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004238.1:c.2511A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004238.1:p.(T837);ESP6500_MAF=48.0814,21.3345,39.0205;ESP6500_TAC=5075,7931	GT:AD:DP:GQ:PL	0/1:30,30:60:99:728,0,762
chr2	229804252	rs4972915	G	A	503.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4972915;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|18/41|c.2570-25C>T||||||,A|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|16/39|c.2525-25C>T||||||,A|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|15/38|c.1616-25C>T||||||,A|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|17/40|c.2426-25C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4084;p3_1000G_AF=0.815495;p3_1000G_AFR_AF=0.907;p3_1000G_AMR_AF=0.8573;p3_1000G_AN=5008;p3_1000G_DP=17468;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.8201;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230668968;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3756,502;ESP6500_AA_GTC=1657,442,30;ESP6500_CDS_SIZES=NM_004238.1:5979;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=34;ESP6500_EA_AC=6697,1861;ESP6500_EA_GTC=2645,1407,227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004238.1:intron;ESP6500_GL=TRIP12;ESP6500_GRCh38_POSITION=2:229804252;ESP6500_GTC=4302,1849,257;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004238.1:c.2426-25C>T;ESP6500_MAF=21.7457,11.7896,18.4379;ESP6500_TAC=10453,2363	GT:AD:DP:GQ:PL	1/1:0,16:16:48:532,48,0
chr2	229804266	rs4973229	T	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=-1.248;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4973229;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|18/41|c.2570-39A>C||||||,G|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|16/39|c.2525-39A>C||||||,G|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|15/38|c.1616-39A>C||||||,G|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|17/40|c.2426-39A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1750;p3_1000G_AF=0.349441;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=17559;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.506;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230668982;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=845,3341;ESP6500_AA_GTC=113,619,1361;ESP6500_CDS_SIZES=NM_004238.1:5979;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=24;ESP6500_EA_AC=3891,4599;ESP6500_EA_GTC=964,1963,1318;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004238.1:intron;ESP6500_GL=TRIP12;ESP6500_GRCh38_POSITION=2:229804266;ESP6500_GTC=1077,2582,2679;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004238.1:c.2426-39A>C;ESP6500_MAF=45.8304,20.1863,37.3619;ESP6500_TAC=4736,7940	GT:AD:DP:GQ:PL	0/1:3,8:11:74:255,0,74
chr2	229840800	rs34481385;rs398042985	TA	T	144.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.843;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=4.036;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=0.211;SOR=1.122;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34481385;dbSNPBuildID=126,138;ANN=T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|5/41|c.1133+21delT||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|3/39|c.1007+21delT||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|2/38|c.99-3817delT||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|4/40|c.1007+21delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1653;p3_1000G_AF=0.330072;p3_1000G_AFR_AF=0.1997;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=15044;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.4135;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230705516;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,9:19:99:182,0,207
chr2	229879854	rs479492	C	T	171.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.38;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs479492;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284214.1|protein_coding|2/41|c.98+128G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284215.1|protein_coding|1/39|c.98+128G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_001284216.1|protein_coding|2/38|c.98+128G>A||||||,T|intron_variant|MODIFIER|TRIP12|TRIP12|transcript|NM_004238.2|protein_coding|2/40|c.98+128G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4884;p3_1000G_AF=0.97524;p3_1000G_AFR_AF=0.9077;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20367;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230744570;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:200,15,0
chr2	230010595	rs11675143	G	A	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0.989;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.684;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11675143;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|FBXO36|FBXO36|transcript|NM_174899.4|protein_coding|3/3|c.379-101G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=892;p3_1000G_AF=0.178115;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=19306;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230875311;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:43,24:67:99:542,0,1171
chr2	230049645	rs4358112	G	C	183.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.13;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4358112;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|SLC16A14|SLC16A14|transcript|NM_152527.4|protein_coding|3/4|c.403+116C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4405;p3_1000G_AF=0.879593;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=16378;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.9085;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230914361;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:212,15,0
chr2	230058932	rs9750739	C	G	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.782;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.438;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9750739;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|SLC16A14|SLC16A14|transcript|NM_152527.4|protein_coding|2/4|c.259+162G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1956;p3_1000G_AF=0.390575;p3_1000G_AFR_AF=0.5855;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=20706;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.4732;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230923648;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:245,0,239
chr2	230059004	rs12468042	G	A	272.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.09;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=0.765;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12468042;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|SLC16A14|SLC16A14|transcript|NM_152527.4|protein_coding|2/4|c.259+90C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=56;p3_1000G_AF=0.0111821;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=23719;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=230923720;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,14:43:99:301,0,799
chr2	230178086	rs2241525	C	T	179.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.593;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=-0.431;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241525;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_080424.2|protein_coding|13/18|c.1447+71G>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004509.3|protein_coding|13/17|c.1447+71G>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004510.3|protein_coding|13/14|c.1447+71G>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_001185015.1|protein_coding|14/15|c.1465+71G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=671;p3_1000G_AF=0.133986;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=20929;p3_1000G_EAS_AF=0.1429;p3_1000G_EUR_AF=0.1431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231042802;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,8:9:15:208,0,15
chr2	230185999	rs3948464;5539	A	G	2200.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=70;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3948464;dbSNPBuildID=108;ANN=G|missense_variant|MODERATE|SP110|SP110|transcript|NM_080424.2|protein_coding|11/19|c.1274T>C|p.Leu425Ser|1514/2580|1274/2142|425/713||,G|missense_variant|MODERATE|SP110|SP110|transcript|NM_004509.3|protein_coding|11/18|c.1274T>C|p.Leu425Ser|1514/2508|1274/2070|425/689||,G|missense_variant|MODERATE|SP110|SP110|transcript|NM_004510.3|protein_coding|11/15|c.1274T>C|p.Leu425Ser|1514/2082|1274/1650|425/549||,G|missense_variant|MODERATE|SP110|SP110|transcript|NM_001185015.1|protein_coding|12/16|c.1292T>C|p.Leu431Ser|1550/2118|1292/1668|431/555||;p3_1000G_AA=G|||;p3_1000G_AC=4527;p3_1000G_AF=0.903954;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.8746;p3_1000G_AN=5008;p3_1000G_DP=22982;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.8748;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231050715;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3729,677;ESP6500_AA_AGE=286.9+/-279.0;ESP6500_AA_GTC=1585,559,59;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...3431&amp%3Brs...3948464|http://omim.org/entry/604457#0003;ESP6500_CDS_SIZES=NM_080424.2:2142,NM_004510.3:1650,NM_004509.3:2070,NM_001185015.1:1668;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=199;ESP6500_EA_AC=7491,1109;ESP6500_EA_AGE=230.8+/-265.0;ESP6500_EA_GTC=3258,975,67;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080424.2:missense,NM_004510.3:missense,NM_004509.3:missense,NM_001185015.1:missense;ESP6500_GL=SP110;ESP6500_GRCh38_POSITION=2:230185999;ESP6500_GS=145,145,145,145;ESP6500_GTC=4843,1534,126;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080424.2:c.1274T>C,NM_004510.3:c.1274T>C,NM_004509.3:c.1274T>C,NM_001185015.1:c.1292T>C;ESP6500_HGVS_PROTEIN_VAR=NM_080424.2:p.(L425S),NM_004510.3:p.(L425S),NM_004509.3:p.(L425S),NM_001185015.1:p.(L431S);ESP6500_MAF=12.8953,15.3654,13.7321;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=11220,1786;CLINVAR_ALLELEID=20578;CLINVAR_CLNDISDB=MedGen:C1834752,OMIM:607948|MedGen:CN169374;CLINVAR_CLNDN=Mycobacterium_tuberculosis,_susceptibility_to|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.230185999A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=OMIM_Allelic_Variant:604457.0003;CLINVAR_GENEINFO=SP110:3431;CLINVAR_MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3948464	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2229,210,0
chr2	230201006	rs41309108	A	T	34.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.753;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=-1.931;SOR=0.458;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41309108;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_080424.2|protein_coding|9/18|c.1049-41T>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004509.3|protein_coding|9/17|c.1049-41T>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004510.3|protein_coding|9/14|c.1049-41T>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_001185015.1|protein_coding|10/15|c.1067-41T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1026;p3_1000G_AF=0.204872;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=18501;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231065722;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1109,3297;ESP6500_AA_AGE=717.5+/-408.7;ESP6500_AA_GTC=150,809,1244;ESP6500_CDS_SIZES=NM_080424.2:2142,NM_004510.3:1650,NM_004509.3:2070,NM_001185015.1:1668;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=67;ESP6500_EA_AC=879,7721;ESP6500_EA_AGE=778.2+/-407.7;ESP6500_EA_GTC=45,789,3466;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080424.2:intron,NM_004510.3:intron,NM_004509.3:intron,NM_001185015.1:intron;ESP6500_GL=SP110;ESP6500_GRCh38_POSITION=2:230201006;ESP6500_GTC=195,1598,4710;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_080424.2:c.1049-41T>A,NM_004510.3:c.1049-41T>A,NM_004509.3:c.1049-41T>A,NM_001185015.1:c.1067-41T>A;ESP6500_MAF=10.2209,25.1702,15.2853;ESP6500_TAC=1988,11018	GT:AD:DP:GQ:PL	0/1:20,5:25:63:63,0,577
chr2	230207994	rs1365776;334909	C	T	428.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.98;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1365776;dbSNPBuildID=88;ANN=T|missense_variant|MODERATE|SP110|SP110|transcript|NM_080424.2|protein_coding|8/19|c.895G>A|p.Gly299Arg|1135/2580|895/2142|299/713||,T|missense_variant|MODERATE|SP110|SP110|transcript|NM_004509.3|protein_coding|8/18|c.895G>A|p.Gly299Arg|1135/2508|895/2070|299/689||,T|missense_variant|MODERATE|SP110|SP110|transcript|NM_004510.3|protein_coding|8/15|c.895G>A|p.Gly299Arg|1135/2082|895/1650|299/549||,T|missense_variant|MODERATE|SP110|SP110|transcript|NM_001185015.1|protein_coding|9/16|c.913G>A|p.Gly305Arg|1171/2118|913/1668|305/555||;p3_1000G_AA=T|||;p3_1000G_AC=4019;p3_1000G_AF=0.802516;p3_1000G_AFR_AF=0.9592;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=21369;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.6262;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231072709;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3941,461;ESP6500_AA_AGE=201.1+/-224.2;ESP6500_AA_GTC=1762,417,22;ESP6500_CDS_SIZES=NM_080424.2:2142,NM_004510.3:1650,NM_004509.3:2070,NM_001185015.1:1668;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=113;ESP6500_EA_AC=5186,3408;ESP6500_EA_AGE=472.2+/-368.3;ESP6500_EA_GTC=1587,2012,698;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080424.2:missense,NM_004510.3:missense,NM_004509.3:missense,NM_001185015.1:missense;ESP6500_GL=SP110;ESP6500_GRCh38_POSITION=2:230207994;ESP6500_GS=125,125,125,125;ESP6500_GTC=3349,2429,720;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080424.2:c.895G>A,NM_004510.3:c.895G>A,NM_004509.3:c.895G>A,NM_001185015.1:c.913G>A;ESP6500_HGVS_PROTEIN_VAR=NM_080424.2:p.(G299R),NM_004510.3:p.(G299R),NM_004509.3:p.(G299R),NM_001185015.1:p.(G305R);ESP6500_MAF=39.6556,10.4725,29.7707;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=9127,3869;CLINVAR_ALLELEID=288178;CLINVAR_CLNDISDB=MedGen:C1856128,OMIM:235550,Orphanet:ORPHA79124|MedGen:CN169374;CLINVAR_CLNDN=Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.230207994C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28209|UniProtKB_(protein):Q9HB58#VAR_027177;CLINVAR_GENEINFO=SP110:3431|SP140:11262;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1365776	GT:AD:DP:GQ:PL	1/1:0,13:13:39:457,39,0
chr2	230211574	rs3820974	T	G	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.296;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.23;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820974;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SP110|SP110|transcript|NM_080424.2|protein_coding|5/18|c.668-21A>C||||||,G|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004509.3|protein_coding|5/17|c.668-21A>C||||||,G|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004510.3|protein_coding|5/14|c.668-21A>C||||||,G|intron_variant|MODIFIER|SP110|SP110|transcript|NM_001185015.1|protein_coding|6/15|c.686-21A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2713;p3_1000G_AF=0.541733;p3_1000G_AFR_AF=0.559;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=19925;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231076289;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2363,2043;ESP6500_AA_AGE=604.0+/-390.2;ESP6500_AA_GTC=635,1093,475;ESP6500_CDS_SIZES=NM_080424.2:2142,NM_004510.3:1650,NM_004509.3:2070,NM_001185015.1:1668;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=3775,4825;ESP6500_EA_AGE=524.7+/-380.6;ESP6500_EA_GTC=851,2073,1376;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080424.2:intron,NM_004510.3:intron,NM_004509.3:intron,NM_001185015.1:intron;ESP6500_GL=SP110;ESP6500_GRCh38_POSITION=2:230211574;ESP6500_GTC=1486,3166,1851;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_080424.2:c.668-21A>C,NM_004510.3:c.668-21A>C,NM_004509.3:c.668-21A>C,NM_001185015.1:c.686-21A>C;ESP6500_MAF=43.8953,46.3686,47.1936;ESP6500_TAC=6138,6868	GT:AD:DP:GQ:PL	0/1:6,8:14:99:225,0,174
chr2	230212395	rs9061;334910	C	T	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.39;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.121;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.768;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9061;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|SP110|SP110|transcript|NM_080424.2|protein_coding|5/19|c.619G>A|p.Glu207Lys|859/2580|619/2142|207/713||,T|missense_variant|MODERATE|SP110|SP110|transcript|NM_004509.3|protein_coding|5/18|c.619G>A|p.Glu207Lys|859/2508|619/2070|207/689||,T|missense_variant|MODERATE|SP110|SP110|transcript|NM_004510.3|protein_coding|5/15|c.619G>A|p.Glu207Lys|859/2082|619/1650|207/549||,T|missense_variant|MODERATE|SP110|SP110|transcript|NM_001185015.1|protein_coding|6/16|c.637G>A|p.Glu213Lys|895/2118|637/1668|213/555||;p3_1000G_AA=C|||;p3_1000G_AC=654;p3_1000G_AF=0.130591;p3_1000G_AFR_AF=0.0681;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=21909;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.0895;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231077110;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=342,4064;ESP6500_AA_AGE=178.3+/-207.1;ESP6500_AA_GTC=16,310,1877;ESP6500_CDS_SIZES=NM_080424.2:2142,NM_004510.3:1650,NM_004509.3:2070,NM_001185015.1:1668;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=194;ESP6500_EA_AC=807,7793;ESP6500_EA_AGE=188.4+/-235.4;ESP6500_EA_GTC=36,735,3529;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080424.2:missense,NM_004510.3:missense,NM_004509.3:missense,NM_001185015.1:missense;ESP6500_GL=SP110;ESP6500_GRCh38_POSITION=2:230212395;ESP6500_GS=56,56,56,56;ESP6500_GTC=52,1045,5406;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080424.2:c.619G>A,NM_004510.3:c.619G>A,NM_004509.3:c.619G>A,NM_001185015.1:c.637G>A;ESP6500_HGVS_PROTEIN_VAR=NM_080424.2:p.(E207K),NM_004510.3:p.(E207K),NM_004509.3:p.(E207K),NM_001185015.1:p.(E213K);ESP6500_MAF=9.3837,7.7621,8.8344;ESP6500_PH=benign:0.049,benign:0.049,benign:0.049,benign:0.049;ESP6500_TAC=1149,11857;CLINVAR_AF_ESP=0.0883;CLINVAR_AF_EXAC=0.11421;CLINVAR_AF_TGP=0.1306;CLINVAR_ALLELEID=285891;CLINVAR_CLNDISDB=MedGen:C1856128,OMIM:235550,Orphanet:ORPHA79124|MedGen:CN169374;CLINVAR_CLNDN=Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.230212395C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:54337|Illumina_Clinical_Services_Laboratory,Illumina:835800|UniProtKB_(protein):Q9HB58#VAR_027173;CLINVAR_GENEINFO=SP110:3431|SP140:11262;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=9061	GT:AD:DP:GQ:PL	0/1:26,21:47:99:532,0,681
chr2	230212961	rs11556887;334917	G	A	565.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.204;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.411;SOR=0.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11556887;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|SP110|SP110|transcript|NM_080424.2|protein_coding|4/19|c.383C>T|p.Ala128Val|623/2580|383/2142|128/713||,A|missense_variant|MODERATE|SP110|SP110|transcript|NM_004509.3|protein_coding|4/18|c.383C>T|p.Ala128Val|623/2508|383/2070|128/689||,A|missense_variant|MODERATE|SP110|SP110|transcript|NM_004510.3|protein_coding|4/15|c.383C>T|p.Ala128Val|623/2082|383/1650|128/549||,A|missense_variant|MODERATE|SP110|SP110|transcript|NM_001185015.1|protein_coding|5/16|c.401C>T|p.Ala134Val|659/2118|401/1668|134/555||;p3_1000G_AA=G|||;p3_1000G_AC=484;p3_1000G_AF=0.0966454;p3_1000G_AFR_AF=0.0166;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=16828;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.0875;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231077676;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=123,4283;ESP6500_AA_AGE=92.0+/-130.7;ESP6500_AA_GTC=2,119,2082;ESP6500_CDS_SIZES=NM_080424.2:2142,NM_004510.3:1650,NM_004509.3:2070,NM_001185015.1:1668;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=93;ESP6500_EA_AC=805,7795;ESP6500_EA_AGE=187.9+/-235.0;ESP6500_EA_GTC=36,733,3531;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080424.2:missense,NM_004510.3:missense,NM_004509.3:missense,NM_001185015.1:missense;ESP6500_GL=SP110;ESP6500_GRCh38_POSITION=2:230212961;ESP6500_GS=64,64,64,64;ESP6500_GTC=38,852,5613;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080424.2:c.383C>T,NM_004510.3:c.383C>T,NM_004509.3:c.383C>T,NM_001185015.1:c.401C>T;ESP6500_HGVS_PROTEIN_VAR=NM_080424.2:p.(A128V),NM_004510.3:p.(A128V),NM_004509.3:p.(A128V),NM_001185015.1:p.(A134V);ESP6500_MAF=9.3605,2.7916,7.1352;ESP6500_PH=probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999,probably-damaging:0.999;ESP6500_TAC=928,12078;CLINVAR_AF_ESP=0.0714;CLINVAR_AF_EXAC=0.10400;CLINVAR_AF_TGP=0.0967;CLINVAR_ALLELEID=288180;CLINVAR_CLNDISDB=MedGen:C1856128,OMIM:235550,Orphanet:ORPHA79124|MedGen:CN169374;CLINVAR_CLNDN=Hepatic_venoocclusive_disease_with_immunodeficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.230212961G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:54349|UniProtKB_(protein):Q9HB58#VAR_027171;CLINVAR_GENEINFO=SP110:3431|SP140:11262;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11556887	GT:AD:DP:GQ:PL	0/1:24,25:49:99:594,0,778
chr2	230213010	rs1129411;403465	A	G	1330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.75;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=31.68;ReadPosRankSum=0.397;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1129411;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|SP110|SP110|transcript|NM_080424.2|protein_coding|4/19|c.334T>C|p.Trp112Arg|574/2580|334/2142|112/713||,G|missense_variant|MODERATE|SP110|SP110|transcript|NM_004509.3|protein_coding|4/18|c.334T>C|p.Trp112Arg|574/2508|334/2070|112/689||,G|missense_variant|MODERATE|SP110|SP110|transcript|NM_004510.3|protein_coding|4/15|c.334T>C|p.Trp112Arg|574/2082|334/1650|112/549||,G|missense_variant|MODERATE|SP110|SP110|transcript|NM_001185015.1|protein_coding|5/16|c.352T>C|p.Trp118Arg|610/2118|352/1668|118/555||;p3_1000G_AA=G|||;p3_1000G_AC=4763;p3_1000G_AF=0.951078;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=18304;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231077725;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9489;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4300,106;ESP6500_AA_AGE=82.4+/-120.9;ESP6500_AA_GTC=2099,102,2;ESP6500_CDS_SIZES=NM_080424.2:2142,NM_004510.3:1650,NM_004509.3:2070,NM_001185015.1:1668;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=67;ESP6500_EA_AC=7598,1002;ESP6500_EA_AGE=215.9+/-255.1;ESP6500_EA_GTC=3354,890,56;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080424.2:missense,NM_004510.3:missense,NM_004509.3:missense,NM_001185015.1:missense;ESP6500_GL=SP110;ESP6500_GRCh38_POSITION=2:230213010;ESP6500_GS=101,101,101,101;ESP6500_GTC=5453,992,58;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_080424.2:c.334T>C,NM_004510.3:c.334T>C,NM_004509.3:c.334T>C,NM_001185015.1:c.352T>C;ESP6500_HGVS_PROTEIN_VAR=NM_080424.2:p.(W112R),NM_004510.3:p.(W112R),NM_004509.3:p.(W112R),NM_001185015.1:p.(W118R);ESP6500_MAF=11.6512,2.4058,8.5191;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=11898,1108;CLINVAR_ALLELEID=389491;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.230213010A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SP110:3431|SP140:11262;CLINVAR_MC=SO:0001583|missense_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1129411	GT:AD:DP:GQ:PL	1/1:2,40:42:77:1359,77,0
chr2	230213153	rs7601176	A	G	533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.17;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7601176;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SP110|SP110|transcript|NM_080424.2|protein_coding|3/18|c.317-126T>C||||||,G|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004509.3|protein_coding|3/17|c.317-126T>C||||||,G|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004510.3|protein_coding|3/14|c.317-126T>C||||||,G|intron_variant|MODIFIER|SP110|SP110|transcript|NM_001185015.1|protein_coding|4/15|c.335-126T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3867;p3_1000G_AF=0.772165;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=17291;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.5417;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231077868;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.82;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:562,42,0
chr2	230213196	rs7601190	A	C	117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.751;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7601190;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_080424.2|protein_coding|3/18|c.317-169T>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004509.3|protein_coding|3/17|c.317-169T>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004510.3|protein_coding|3/14|c.317-169T>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_001185015.1|protein_coding|4/15|c.335-169T>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3660;p3_1000G_AF=0.730831;p3_1000G_AFR_AF=0.5598;p3_1000G_AMR_AF=0.8256;p3_1000G_AN=5008;p3_1000G_DP=17172;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.7932;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231077911;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:99:146,0,161
chr2	230214912	.	C	T	18.82	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.054;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=-0.892;SOR=1.022;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_080424.2|protein_coding|3/18|c.316+38G>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004509.3|protein_coding|3/17|c.316+38G>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004510.3|protein_coding|3/14|c.316+38G>A||||||,T|intron_variant|MODIFIER|SP110|SP110|transcript|NM_001185015.1|protein_coding|4/15|c.334+38G>A||||||	GT:AD:DP:GQ:PL	0/1:18,3:21:47:47,0,540
chr2	230216669	rs7580900	T	C	470.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.79;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7580900;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_080424.2|protein_coding|2/18|c.147+112A>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004509.3|protein_coding|2/17|c.147+112A>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004510.3|protein_coding|2/14|c.147+112A>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_001185015.1|protein_coding|3/15|c.165+112A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2484;p3_1000G_AF=0.496006;p3_1000G_AFR_AF=0.6483;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=19302;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.4712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231081384;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,10:10:36:1|1:230216669_T_C:499,36,0
chr2	230216690	rs7580912	T	C	520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7580912;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_080424.2|protein_coding|2/18|c.147+91A>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004509.3|protein_coding|2/17|c.147+91A>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_004510.3|protein_coding|2/14|c.147+91A>G||||||,C|intron_variant|MODIFIER|SP110|SP110|transcript|NM_001185015.1|protein_coding|3/15|c.165+91A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1779;p3_1000G_AF=0.355232;p3_1000G_AFR_AF=0.3729;p3_1000G_AMR_AF=0.3213;p3_1000G_AN=5008;p3_1000G_DP=18837;p3_1000G_EAS_AF=0.3234;p3_1000G_EUR_AF=0.3419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231081405;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:230216669_T_C:549,42,0
chr2	230241529	rs2288328	G	C	2709.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2288328;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|SP140|SP140|transcript|NM_001005176.2|protein_coding||c.*2656G>C|||||2453|,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|4/26|c.490+42G>C||||||,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|4/25|c.490+42G>C||||||,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|4/24|c.490+42G>C||||||,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|4/23|c.490+42G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1722;p3_1000G_AF=0.34385;p3_1000G_AFR_AF=0.3638;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=21694;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231106244;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1339,2569;ESP6500_AA_GTC=231,877,846;ESP6500_CDS_SIZES=NM_007237.4:2604;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=73;ESP6500_EA_AC=2655,5619;ESP6500_EA_GTC=409,1837,1891;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007237.4:intron;ESP6500_GL=SP140;ESP6500_GRCh38_POSITION=2:230241529;ESP6500_GTC=640,2714,2737;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_007237.4:c.490+42G>C;ESP6500_MAF=32.0885,34.2631,32.7861;ESP6500_TAC=3994,8188	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2738,246,0
chr2	230245782	rs56246923	G	A	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.739;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=7.104;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.541;SOR=0.052;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56246923;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|6/26|c.665-81G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|6/25|c.665-81G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|6/24|c.664+702G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|6/23|c.656-81G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=382;p3_1000G_AF=0.076278;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=19845;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.0447;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231110497;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:262,0,371
chr2	230250809	rs72988209	A	T	224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.12;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.638;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72988209;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|9/26|c.977-172A>T||||||,T|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|9/25|c.977-172A>T||||||,T|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|8/24|c.899-172A>T||||||,T|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|8/23|c.817+1841A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=596;p3_1000G_AF=0.11901;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=18427;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.0457;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231115524;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,9:22:99:0|1:230250809_A_T:253,0,371
chr2	230253471	rs3769840	G	A	308.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.221;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.463;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.55;SOR=0.247;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769840;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|11/26|c.1159+54G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|11/25|c.1159+54G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|9/24|c.980-1981G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|8/23|c.818-1981G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1040;p3_1000G_AF=0.207668;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=22815;p3_1000G_EAS_AF=0.2103;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231118186;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,13:34:99:337,0,675
chr2	230255540	rs367703666;rs569542294;rs536192442	CGG	C	1024.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.06;SOR=1.402;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs367703666;dbSNPBuildID=142,138;ANN=C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|12/26|c.1240+17_1240+18delGG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|11/25|c.1159+2132_1159+2133delGG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|10/24|c.1060+17_1060+18delGG||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|9/23|c.898+17_898+18delGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=895;p3_1000G_AF=0.178714;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=18955;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.0497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231120255;p3_1000G_GRCH37_REF=CGG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:0,17:17:99:1062,394,563
chr2	230255540	rs536192442;rs569542294	CGG	CG	1024.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.06;SOR=1.402;DEL;HET;VARTYPE=DEL;ANN=CG|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|12/26|c.1240+18delG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|11/25|c.1159+2133delG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|10/24|c.1060+18delG||||||INFO_REALIGN_3_PRIME,CG|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|9/23|c.898+18delG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3769;p3_1000G_AF=0.752596;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=18955;p3_1000G_EAS_AF=0.8978;p3_1000G_EUR_AF=0.8111;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231120255;p3_1000G_GRCH37_REF=CGG;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7607;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:0,14:14:99:1062,708,666
chr2	230255543	rs201594901	G	T	637.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.349;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.423;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.33;ReadPosRankSum=1.26;SOR=1.065;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201594901;dbSNPBuildID=137;ANN=T|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|12/26|c.1240+11G>T||||||,T|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|11/25|c.1159+2126G>T||||||,T|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|10/24|c.1060+11G>T||||||,T|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|9/23|c.898+11G>T||||||;p3_1000G_AA=N|||;p3_1000G_AC=856;p3_1000G_AF=0.170927;p3_1000G_AFR_AF=0.3472;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=16589;p3_1000G_EAS_AF=0.0952;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231120258;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,17:33:99:666,0,563
chr2	230284393	rs4972946	G	A	891.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.73;SOR=0.826;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4972946;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|SP140|SP140|transcript|NM_007237.4|protein_coding|16/27|c.1546G>A|p.Glu516Lys|1661/3250|1546/2604|516/867||,A|missense_variant|MODERATE|SP140|SP140|transcript|NM_001278451.1|protein_coding|15/26|c.1465G>A|p.Glu489Lys|1580/3169|1465/2523|489/840||,A|missense_variant|MODERATE|SP140|SP140|transcript|NM_001278452.1|protein_coding|14/25|c.1366G>A|p.Glu456Lys|1481/3070|1366/2424|456/807||,A|missense_variant|MODERATE|SP140|SP140|transcript|NM_001278453.1|protein_coding|13/24|c.1204G>A|p.Glu402Lys|1319/2908|1204/2262|402/753||;p3_1000G_AA=A|||;p3_1000G_AC=4877;p3_1000G_AF=0.973842;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=19284;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9185;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231149108;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9877;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3742,58;ESP6500_AA_GTC=1842,58,0;ESP6500_CDS_SIZES=NM_007237.4:2604;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=115;ESP6500_EA_AC=7571,659;ESP6500_EA_GTC=3488,595,32;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007237.4:missense;ESP6500_GL=SP140;ESP6500_GRCh38_POSITION=2:230284393;ESP6500_GS=56;ESP6500_GTC=5330,653,32;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007237.4:c.1546G>A;ESP6500_HGVS_PROTEIN_VAR=NM_007237.4:p.(E516K);ESP6500_MAF=8.0073,1.5263,5.9601;ESP6500_PH=benign:0.0;ESP6500_TAC=11313,717	GT:AD:DP:GQ:PL	1/1:0,30:30:90:920,90,0
chr2	230290698	rs3820976	T	A	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.164;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.701;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.99;ReadPosRankSum=-0.17;SOR=0.09;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3820976;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|19/26|c.1825+134T>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|18/25|c.1744+134T>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|17/24|c.1645+134T>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|16/23|c.1483+134T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=812;p3_1000G_AF=0.162141;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=20895;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.1451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231155413;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,4:17:96:96,0,434
chr2	230292556	rs7602027	T	C	504.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.5;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.705;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7602027;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|19/26|c.1826-90T>C||||||,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|18/25|c.1745-90T>C||||||,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|17/24|c.1646-90T>C||||||,C|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|16/23|c.1484-90T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=909;p3_1000G_AF=0.18151;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=18563;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.1451;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231157271;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,17:35:99:533,0,491
chr2	230292812	rs6739193	G	A	1799.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.57;SOR=1.366;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6739193;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|20/26|c.1968+24G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|19/25|c.1887+24G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|18/24|c.1788+24G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|17/23|c.1626+24G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3807;p3_1000G_AF=0.760184;p3_1000G_AFR_AF=0.9304;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=16890;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.8022;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231157527;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3634,346;ESP6500_AA_GTC=1656,322,12;ESP6500_CDS_SIZES=NM_007237.4:2604;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=75;ESP6500_EA_AC=6745,1529;ESP6500_EA_GTC=2762,1221,154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007237.4:intron;ESP6500_GL=SP140;ESP6500_GRCh38_POSITION=2:230292812;ESP6500_GTC=4418,1543,166;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007237.4:c.1968+24G>A;ESP6500_MAF=18.4796,8.6935,15.3011;ESP6500_TAC=10379,1875	GT:AD:DP:GQ:PL	1/1:0,63:63:99:1828,189,0
chr2	230311325	rs139570354	G	A	218.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.189;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.497;MLEAC=1;MLEAF=0.5;MQ=39.18;MQRankSum=-2.287;QD=7.29;ReadPosRankSum=-0.099;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139570354;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_007237.4|protein_coding|25/26|c.2361+94G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278451.1|protein_coding|24/25|c.2280+94G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278452.1|protein_coding|23/24|c.2181+94G>A||||||,A|intron_variant|MODIFIER|SP140|SP140|transcript|NM_001278453.1|protein_coding|22/23|c.2019+94G>A||||||	GT:AD:DP:GQ:PL	0/1:19,11:30:99:247,0,429
chr2	230462576	rs1649863	A	G	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.13;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.44;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1649863;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001080391.1|protein_coding|10/28|c.1057+58A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206702.1|protein_coding|10/14|c.1057+58A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206703.1|protein_coding|9/13|c.982+58A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206701.1|protein_coding|10/22|c.1057+58A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_003113.3|protein_coding|10/24|c.1057+58A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206704.1|protein_coding|11/15|c.952+58A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1313;p3_1000G_AF=0.262181;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=19155;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.3171;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231327291;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=195,1189;ESP6500_AA_GTC=13,169,510;ESP6500_CDS_SIZES=NM_003113.3:2640,NM_001206704.1:1338,NM_001206703.1:1359,NM_001206702.1:1443,NM_001206701.1:2067,NM_001080391.1:2658;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=30;ESP6500_EA_AC=969,2213;ESP6500_EA_GTC=163,643,785;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003113.3:intron,NM_001206704.1:intron,NM_001206703.1:intron,NM_001206702.1:intron,NM_001206701.1:intron,NM_001080391.1:intron;ESP6500_GL=SP100;ESP6500_GRCh38_POSITION=2:230462576;ESP6500_GTC=176,812,1295;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003113.3:c.1057+58A>G,NM_001206704.1:c.952+58A>G,NM_001206703.1:c.982+58A>G,NM_001206702.1:c.1057+58A>G,NM_001206701.1:c.1057+58A>G,NM_001080391.1:c.1057+58A>G;ESP6500_MAF=30.4525,14.0896,25.4928;ESP6500_TAC=1164,3402	GT:AD:DP:GQ:PL	0/1:15,8:23:99:235,0,340
chr2	230466979	rs1678159	A	G	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=-0.842;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1678159;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001080391.1|protein_coding|12/28|c.1196-141A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206702.1|protein_coding|12/14|c.1196-141A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206703.1|protein_coding|11/13|c.1121-141A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206701.1|protein_coding|12/22|c.1196-141A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_003113.3|protein_coding|12/24|c.1196-141A>G||||||,G|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206704.1|protein_coding|13/15|c.1091-141A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3329;p3_1000G_AF=0.664736;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=20030;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.7555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231331694;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,4:7:99:0|1:230466979_A_G:159,0,198
chr2	230466986	rs3214547;rs397729998;rs869210937	A	AG	118.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.949;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3214547;dbSNPBuildID=106,147,138;ANN=AG|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001080391.1|protein_coding|12/28|c.1196-132dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206702.1|protein_coding|12/14|c.1196-132dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206703.1|protein_coding|11/13|c.1121-132dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206701.1|protein_coding|12/22|c.1196-132dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SP100|SP100|transcript|NM_003113.3|protein_coding|12/24|c.1196-132dupG||||||INFO_REALIGN_3_PRIME,AG|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206704.1|protein_coding|13/15|c.1091-132dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGG|GG|GGG|deletion;p3_1000G_AC=3329;p3_1000G_AF=0.664736;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=20200;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.7555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231331701;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8456;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,4:8:99:0|1:230466979_A_G:156,0,231
chr2	230467084	rs1649869	T	C	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.47;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.524;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1649869;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001080391.1|protein_coding|12/28|c.1196-36T>C||||||,C|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206702.1|protein_coding|12/14|c.1196-36T>C||||||,C|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206703.1|protein_coding|11/13|c.1121-36T>C||||||,C|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206701.1|protein_coding|12/22|c.1196-36T>C||||||,C|intron_variant|MODIFIER|SP100|SP100|transcript|NM_003113.3|protein_coding|12/24|c.1196-36T>C||||||,C|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206704.1|protein_coding|13/15|c.1091-36T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=20843;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.7555;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231331799;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8466;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2811,1595;ESP6500_AA_AGE=649.3+/-398.9;ESP6500_AA_GTC=910,991,302;ESP6500_CDS_SIZES=NM_003113.3:2640,NM_001206704.1:1338,NM_001206703.1:1359,NM_001206702.1:1443,NM_001206701.1:2067,NM_001080391.1:2658;ESP6500_CG=2.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=88;ESP6500_EA_AC=6489,2111;ESP6500_EA_AGE=713.8+/-406.0;ESP6500_EA_GTC=2450,1589,261;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003113.3:intron,NM_001206704.1:intron,NM_001206703.1:intron,NM_001206702.1:intron,NM_001206701.1:intron,NM_001080391.1:intron;ESP6500_GL=SP100;ESP6500_GRCh38_POSITION=2:230467084;ESP6500_GTC=3360,2580,563;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003113.3:c.1196-36T>C,NM_001206704.1:c.1091-36T>C,NM_001206703.1:c.1121-36T>C,NM_001206702.1:c.1196-36T>C,NM_001206701.1:c.1196-36T>C,NM_001080391.1:c.1196-36T>C;ESP6500_MAF=24.5465,36.2006,28.4945;ESP6500_TAC=9300,3706	GT:AD:DP:GQ:PL	0/1:4,6:10:99:154,0,125
chr2	230473245	rs1615190	C	T	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.072;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-1.099;SOR=0.846;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1615190;dbSNPBuildID=89;ANN=T|downstream_gene_variant|MODIFIER|SP100|SP100|transcript|NM_001206702.1|protein_coding||c.*3133C>T|||||2710|,T|downstream_gene_variant|MODIFIER|SP100|SP100|transcript|NM_001206703.1|protein_coding||c.*3133C>T|||||2710|,T|downstream_gene_variant|MODIFIER|SP100|SP100|transcript|NM_001206704.1|protein_coding||c.*3133C>T|||||2710|,T|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001080391.1|protein_coding|15/28|c.1430-79C>T||||||,T|intron_variant|MODIFIER|SP100|SP100|transcript|NM_001206701.1|protein_coding|15/22|c.1430-79C>T||||||,T|intron_variant|MODIFIER|SP100|SP100|transcript|NM_003113.3|protein_coding|15/24|c.1430-79C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4065;p3_1000G_AF=0.811701;p3_1000G_AFR_AF=0.9917;p3_1000G_AMR_AF=0.7522;p3_1000G_AN=5008;p3_1000G_DP=19126;p3_1000G_EAS_AF=0.4901;p3_1000G_EUR_AF=0.8767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231337960;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,10:24:99:271,0,453
chr2	230873453	rs2289235	G	A	2042.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.04;SOR=1.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289235;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|ITM2C|ITM2C|transcript|NM_001287241.1|protein_coding|3/7|c.157G>A|p.Gly53Ser|420/2222|157/804|53/267||,A|missense_variant|MODERATE|ITM2C|ITM2C|transcript|NM_030926.5|protein_coding|2/6|c.157G>A|p.Gly53Ser|288/2090|157/804|53/267||,A|missense_variant|MODERATE|ITM2C|ITM2C|transcript|NM_001012516.2|protein_coding|2/5|c.157G>A|p.Gly53Ser|233/1924|157/693|53/230||,A|5_prime_UTR_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001287240.1|protein_coding|2/6|c.-30G>A|||||30|,A|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001012514.2|protein_coding|1/4|c.121-2167G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2557;p3_1000G_AF=0.510583;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=17865;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231738168;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1122,3284;ESP6500_AA_AGE=397.2+/-330.3;ESP6500_AA_GTC=143,836,1224;ESP6500_CDS_SIZES=NM_030926.4:804,NM_001012516.1:693,NM_001012514.1:663;ESP6500_CG=-2.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=74;ESP6500_EA_AC=4152,4448;ESP6500_EA_AGE=563.2+/-388.1;ESP6500_EA_GTC=1020,2112,1168;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_030926.4:missense,NM_001012516.1:missense,NM_001012514.1:intron;ESP6500_GL=ITM2C;ESP6500_GRCh38_POSITION=2:230873453;ESP6500_GS=56,56,.;ESP6500_GTC=1163,2948,2392;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_030926.4:c.157G>A,NM_001012516.1:c.157G>A,NM_001012514.1:c.121-2167G>A;ESP6500_HGVS_PROTEIN_VAR=NM_030926.4:p.(G53S),NM_001012516.1:p.(G53S),.;ESP6500_MAF=48.2791,25.4653,40.5505;ESP6500_PH=benign:0.001,benign:0.001,.;ESP6500_TAC=5274,7732	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2071,203,0
chr2	230873548	rs2289234	C	T	3117.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.06;SOR=1.073;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289234;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|ITM2C|ITM2C|transcript|NM_001287241.1|protein_coding|3/7|c.252C>T|p.Phe84Phe|515/2222|252/804|84/267||,T|synonymous_variant|LOW|ITM2C|ITM2C|transcript|NM_001287240.1|protein_coding|2/6|c.66C>T|p.Phe22Phe|319/2026|66/618|22/205||,T|synonymous_variant|LOW|ITM2C|ITM2C|transcript|NM_030926.5|protein_coding|2/6|c.252C>T|p.Phe84Phe|383/2090|252/804|84/267||,T|synonymous_variant|LOW|ITM2C|ITM2C|transcript|NM_001012516.2|protein_coding|2/5|c.252C>T|p.Phe84Phe|328/1924|252/693|84/230||,T|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001012514.2|protein_coding|1/4|c.121-2072C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2553;p3_1000G_AF=0.509784;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=20020;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.504;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231738263;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1099,3307;ESP6500_AA_AGE=384.2+/-325.2;ESP6500_AA_GTC=138,823,1242;ESP6500_CDS_SIZES=NM_030926.4:804,NM_001012516.1:693,NM_001012514.1:663;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=76;ESP6500_EA_AC=4159,4441;ESP6500_EA_AGE=553.8+/-386.4;ESP6500_EA_GTC=1025,2109,1166;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030926.4:coding-synonymous,NM_001012516.1:coding-synonymous,NM_001012514.1:intron;ESP6500_GL=ITM2C;ESP6500_GRCh38_POSITION=2:230873548;ESP6500_GTC=1163,2932,2408;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_030926.4:c.252C>T,NM_001012516.1:c.252C>T,NM_001012514.1:c.121-2072C>T;ESP6500_HGVS_PROTEIN_VAR=NM_030926.4:p.(F84),NM_001012516.1:p.(F84),.;ESP6500_MAF=48.3605,24.9433,40.4275;ESP6500_TAC=5258,7748	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,72:72:99:1|1:230873548_C_T:3146,217,0
chr2	230873554	rs2289233	G	A	3036.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.78;SOR=1.131;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289233;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|ITM2C|ITM2C|transcript|NM_001287241.1|protein_coding|3/7|c.258G>A|p.Ala86Ala|521/2222|258/804|86/267||,A|synonymous_variant|LOW|ITM2C|ITM2C|transcript|NM_001287240.1|protein_coding|2/6|c.72G>A|p.Ala24Ala|325/2026|72/618|24/205||,A|synonymous_variant|LOW|ITM2C|ITM2C|transcript|NM_030926.5|protein_coding|2/6|c.258G>A|p.Ala86Ala|389/2090|258/804|86/267||,A|synonymous_variant|LOW|ITM2C|ITM2C|transcript|NM_001012516.2|protein_coding|2/5|c.258G>A|p.Ala86Ala|334/1924|258/693|86/230||,A|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001012514.2|protein_coding|1/4|c.121-2066G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2551;p3_1000G_AF=0.509385;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=19946;p3_1000G_EAS_AF=0.8135;p3_1000G_EUR_AF=0.504;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231738269;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1101,3305;ESP6500_AA_AGE=384.4+/-325.3;ESP6500_AA_GTC=139,823,1241;ESP6500_CDS_SIZES=NM_030926.4:804,NM_001012516.1:693,NM_001012514.1:663;ESP6500_CG=-5.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=4165,4435;ESP6500_EA_AGE=553.2+/-386.3;ESP6500_EA_GTC=1027,2111,1162;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030926.4:coding-synonymous,NM_001012516.1:coding-synonymous,NM_001012514.1:intron;ESP6500_GL=ITM2C;ESP6500_GRCh38_POSITION=2:230873554;ESP6500_GTC=1166,2934,2403;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_030926.4:c.258G>A,NM_001012516.1:c.258G>A,NM_001012514.1:c.121-2066G>A;ESP6500_HGVS_PROTEIN_VAR=NM_030926.4:p.(A86),NM_001012516.1:p.(A86),.;ESP6500_MAF=48.4302,24.9887,40.489;ESP6500_TAC=5266,7740	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,69:69:99:1|1:230873548_C_T:3065,208,0
chr2	230873603	rs3816150	T	C	1155.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816150;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001287241.1|protein_coding|3/6|c.261+46T>C||||||,C|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001287240.1|protein_coding|2/5|c.75+46T>C||||||,C|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001012514.2|protein_coding|1/4|c.121-2017T>C||||||,C|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_030926.5|protein_coding|2/5|c.261+46T>C||||||,C|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001012516.2|protein_coding|2/4|c.261+46T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2556;p3_1000G_AF=0.510383;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=19289;p3_1000G_EAS_AF=0.8155;p3_1000G_EUR_AF=0.505;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231738318;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1103,3299;ESP6500_AA_GTC=150,803,1248;ESP6500_CDS_SIZES=NM_030926.4:804,NM_001012516.1:693,NM_001012514.1:663;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=39;ESP6500_EA_AC=4170,4426;ESP6500_EA_GTC=1044,2082,1172;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030926.4:intron,NM_001012516.1:intron,NM_001012514.1:intron;ESP6500_GL=ITM2C;ESP6500_GRCh38_POSITION=2:230873603;ESP6500_GTC=1194,2885,2420;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_030926.4:c.261+46T>C,NM_001012516.1:c.261+46T>C,NM_001012514.1:c.121-2017T>C;ESP6500_MAF=48.5109,25.0568,40.5678;ESP6500_TAC=5273,7725	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1184,111,0
chr2	230875561	rs2289231	A	G	677.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2289231;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001287241.1|protein_coding|3/6|c.262-59A>G||||||,G|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001287240.1|protein_coding|2/5|c.76-59A>G||||||,G|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001012514.2|protein_coding|1/4|c.121-59A>G||||||,G|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_030926.5|protein_coding|2/5|c.262-59A>G||||||,G|intron_variant|MODIFIER|ITM2C|ITM2C|transcript|NM_001012516.2|protein_coding|2/4|c.262-59A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3049;p3_1000G_AF=0.608826;p3_1000G_AFR_AF=0.4357;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=16317;p3_1000G_EAS_AF=0.8571;p3_1000G_EUR_AF=0.5835;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231740276;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:706,57,0
chr2	230996123	rs2271369	C	T	1445.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.67;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271369;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|SPATA3-AS1|SPATA3-AS1|transcript|NR_033879.1|pseudogene||n.-91G>A|||||91|,T|upstream_gene_variant|MODIFIER|SPATA3|SPATA3|transcript|NM_139073.3|protein_coding||c.-111C>T|||||1|,T|intergenic_region|MODIFIER|SPATA3-AS1-SPATA3|SPATA3-AS1-SPATA3|intergenic_region|SPATA3-AS1-SPATA3|||n.230996123C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3761;p3_1000G_AF=0.750998;p3_1000G_AFR_AF=0.9539;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=19080;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.6342;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231860838;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,33:33:99:1|1:230996123_C_T:1474,99,0
chr2	230996133	rs6722863	A	G	1506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.88;SOR=2.115;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6722863;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|SPATA3|SPATA3|transcript|NM_139073.3|protein_coding|1/5|c.-101A>G|||||101|,G|upstream_gene_variant|MODIFIER|SPATA3-AS1|SPATA3-AS1|transcript|NR_033879.1|pseudogene||n.-101T>C|||||101|;p3_1000G_AA=G|||;p3_1000G_AC=4861;p3_1000G_AF=0.970647;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9726;p3_1000G_AN=5008;p3_1000G_DP=19328;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9513;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231860848;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:230996123_C_T:1535,105,0
chr2	230996317	rs72362780	TCAGCAGCCTAGCCCTGAATCCACACCA	T	2644.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.5;ClippingRankSum=0;DP=175;ExcessHet=3.0103;FS=4.491;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.179;SOR=1.019;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72362780;dbSNPBuildID=135;ANN=T|disruptive_inframe_deletion|MODERATE|SPATA3|SPATA3|transcript|NM_139073.3|protein_coding|1/5|c.96_122delCCCTGAATCCACACCACAGCAGCCTAG|p.Pro33_Ser41del|206/870|96/579|32/192||INFO_REALIGN_3_PRIME,T|upstream_gene_variant|MODIFIER|SPATA3-AS1|SPATA3-AS1|transcript|NR_033879.1|pseudogene||n.-312_-286delTGGTGTGGATTCAGGGCTAGGCTGCTG|||||286|;ESP6500_AA_AC=924,1842;ESP6500_AA_GTC=222,480,681;ESP6500_CDS_SIZES=NM_139073.3:579;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=187;ESP6500_EA_AC=2754,2350;ESP6500_EA_GTC=871,1012,669;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139073.3:coding;ESP6500_GL=SPATA3;ESP6500_GRCh38_POSITION=2:230996317;ESP6500_GTC=1093,1492,1350;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_139073.3:c.85_111del27;ESP6500_HGVS_PROTEIN_VAR=NM_139073.3:p.(Q29_P37del9);ESP6500_MAF=46.0423,33.4056,46.7344;ESP6500_TAC=3678,4192	GT:AD:DP:GQ:PL	0/1:96,75:171:99:2682,0,4867
chr2	231000303	rs13406394	A	G	427.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13406394;dbSNPBuildID=121;ANN=G|upstream_gene_variant|MODIFIER|SPATA3-AS1|SPATA3-AS1|transcript|NR_033879.1|pseudogene||n.-4271T>C|||||4271|,G|intron_variant|MODIFIER|SPATA3|SPATA3|transcript|NM_139073.3|protein_coding|1/4|c.302-63A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2267;p3_1000G_AF=0.452676;p3_1000G_AFR_AF=0.4773;p3_1000G_AMR_AF=0.3646;p3_1000G_AN=5008;p3_1000G_DP=17015;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231865018;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:456,42,0
chr2	231000332	rs3817173	T	C	484.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817173;dbSNPBuildID=107;ANN=C|upstream_gene_variant|MODIFIER|SPATA3-AS1|SPATA3-AS1|transcript|NR_033879.1|pseudogene||n.-4300A>G|||||4300|,C|intron_variant|MODIFIER|SPATA3|SPATA3|transcript|NM_139073.3|protein_coding|1/4|c.302-34T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2253;p3_1000G_AF=0.44988;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=17162;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.4076;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231865047;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=635,749;ESP6500_AA_GTC=146,343,203;ESP6500_CDS_SIZES=NM_139073.3:579;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=26;ESP6500_EA_AC=1222,1960;ESP6500_EA_GTC=213,796,582;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139073.3:intron;ESP6500_GL=SPATA3;ESP6500_GRCh38_POSITION=2:231000332;ESP6500_GTC=359,1139,785;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_139073.3:c.302-34T>C;ESP6500_MAF=38.4035,45.8815,40.6702;ESP6500_TAC=1857,2709	GT:AD:DP:GQ:PL	1/1:0,16:16:48:513,48,0
chr2	231000375	rs2271376	T	C	632.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.64;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271376;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|SPATA3|SPATA3|transcript|NM_139073.3|protein_coding|2/5|c.311T>C|p.Ile104Thr|421/870|311/579|104/192||,C|upstream_gene_variant|MODIFIER|SPATA3-AS1|SPATA3-AS1|transcript|NR_033879.1|pseudogene||n.-4343A>G|||||4343|;p3_1000G_AA=C|||;p3_1000G_AC=2248;p3_1000G_AF=0.448882;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=17108;p3_1000G_EAS_AF=0.4742;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231865090;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=637,747;ESP6500_AA_GTC=147,343,202;ESP6500_CDS_SIZES=NM_139073.3:579;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=38;ESP6500_EA_AC=1228,1954;ESP6500_EA_GTC=215,798,578;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_139073.3:missense;ESP6500_GL=SPATA3;ESP6500_GRCh38_POSITION=2:231000375;ESP6500_GS=89;ESP6500_GTC=362,1141,780;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_139073.3:c.311T>C;ESP6500_HGVS_PROTEIN_VAR=NM_139073.3:p.(I104T);ESP6500_MAF=38.5921,46.026,40.8454;ESP6500_PH=benign:0.0;ESP6500_TAC=1865,2701	GT:AD:DP:GQ:PL	1/1:0,20:20:60:661,60,0
chr2	231000554	rs2271375	G	T	524.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.15;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271375;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|SPATA3-AS1|SPATA3-AS1|transcript|NR_033879.1|pseudogene||n.-4522C>A|||||4522|,T|intron_variant|MODIFIER|SPATA3|SPATA3|transcript|NM_139073.3|protein_coding|2/4|c.473+17G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1921;p3_1000G_AF=0.383586;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=16499;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.3917;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231865269;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=425,959;ESP6500_AA_GTC=72,281,339;ESP6500_CDS_SIZES=NM_139073.3:579;ESP6500_CG=4.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=13;ESP6500_EA_AC=1142,2040;ESP6500_EA_GTC=187,768,636;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139073.3:intron;ESP6500_GL=SPATA3;ESP6500_GRCh38_POSITION=2:231000554;ESP6500_GTC=259,1049,975;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_139073.3:c.473+17G>T;ESP6500_MAF=35.8894,30.7081,34.3189;ESP6500_TAC=1567,2999	GT:AD:DP:GQ:PL	1/1:0,18:18:54:553,54,0
chr2	231002687	rs111594464	A	G	1019.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.404;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=4.652;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.566;SOR=0.336;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111594464;dbSNPBuildID=132;ANN=G|synonymous_variant|LOW|SPATA3|SPATA3|transcript|NM_139073.3|protein_coding|3/5|c.477A>G|p.Lys159Lys|587/870|477/579|159/192||;p3_1000G_AA=A|||;p3_1000G_AC=35;p3_1000G_AF=0.00698882;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19613;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231867402;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=14,1370;ESP6500_AA_GTC=1,12,679;ESP6500_CDS_SIZES=NM_139073.3:579;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=92;ESP6500_EA_AC=0,3182;ESP6500_EA_GTC=0,0,1591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_139073.3:coding-synonymous;ESP6500_GL=SPATA3;ESP6500_GRCh38_POSITION=2:231002687;ESP6500_GTC=1,12,2270;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_139073.3:c.477A>G;ESP6500_HGVS_PROTEIN_VAR=NM_139073.3:p.(K159);ESP6500_MAF=0.0,1.0116,0.3066;ESP6500_TAC=14,4552	GT:AD:DP:GQ:PL	0/1:32,39:71:99:1048,0,849
chr2	231077009	rs771766347	A	AT	21.76	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.227;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=-0.453;SOR=0.368;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=AT|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_002807.3|protein_coding|8/24|c.943-15dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_001191037.1|protein_coding|8/23|c.943-15dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NR_034059.1|pseudogene|7/23|n.935-15dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:13,4:17:59:59,0,318
chr2	231079659	rs2303353	A	T	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.03;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.363;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.02;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303353;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_002807.3|protein_coding|11/24|c.1239+45A>T||||||,T|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_001191037.1|protein_coding|11/23|c.1239+45A>T||||||,T|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NR_034059.1|pseudogene|10/23|n.1231+45A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2776;p3_1000G_AF=0.554313;p3_1000G_AFR_AF=0.7935;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=15439;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.3748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=231944373;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3131,1275;ESP6500_AA_GTC=1145,841,217;ESP6500_CDS_SIZES=NM_002807.3:2862,NM_001191037.1:2769;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=2713,5885;ESP6500_EA_GTC=469,1775,2055;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002807.3:intron,NM_001191037.1:intron;ESP6500_GL=PSMD1;ESP6500_GRCh38_POSITION=2:231079659;ESP6500_GTC=1614,2616,2272;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_002807.3:c.1239+45A>T,NM_001191037.1:c.1239+45A>T;ESP6500_MAF=31.5538,28.9378,44.94;ESP6500_TAC=5844,7160	GT:AD:DP:GQ:PL	0/1:8,6:14:99:174,0,178
chr2	231161238	rs35533383;rs397703180;rs754097003	T	TA	72.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=24.24;SOR=1.981;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35533383;dbSNPBuildID=144,126,138;ANN=TA|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_002807.3|protein_coding|19/24|c.2219-88dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_001191037.1|protein_coding|19/23|c.2219-88dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NR_034059.1|pseudogene|18/23|n.2211-88dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,3:3:6:61,0,6
chr2	231163597	rs570680395	T	C	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.268;SOR=1.091;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_002807.3|protein_coding|20/24|c.2389-38T>C||||||,C|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_001191037.1|protein_coding|20/23|c.2389-1603T>C||||||,C|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NR_034059.1|pseudogene|19/23|n.2381-38T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19058;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232028311;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:295,0,241
chr2	231165841	rs2303350	G	A	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.022;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=0.135;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303350;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_002807.3|protein_coding|22/24|c.2569-30G>A||||||,A|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_001191037.1|protein_coding|21/23|c.2476-30G>A||||||,A|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NR_034059.1|pseudogene|21/23|n.2561-30G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2887;p3_1000G_AF=0.576478;p3_1000G_AFR_AF=0.8684;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=18807;p3_1000G_EAS_AF=0.621;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232030555;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3372,948;ESP6500_AA_GTC=1338,696,126;ESP6500_CDS_SIZES=NM_002807.3:2862,NM_001191037.1:2769;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=9;ESP6500_EA_AC=2650,5820;ESP6500_EA_GTC=471,1708,2056;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002807.3:intron,NM_001191037.1:intron;ESP6500_GL=PSMD1;ESP6500_GRCh38_POSITION=2:231165841;ESP6500_GTC=1809,2404,2182;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002807.3:c.2569-30G>A,NM_001191037.1:c.2476-30G>A;ESP6500_MAF=31.2869,21.9444,47.0837;ESP6500_TAC=6022,6768	GT:AD:DP:GQ:PL	0/1:5,3:8:61:61,0,119
chr2	231166147	rs2303349	A	G	113.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.18;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303349;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_002807.3|protein_coding|23/24|c.2715+130A>G||||||,G|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_001191037.1|protein_coding|22/23|c.2622+130A>G||||||,G|intron_variant|MODIFIER|PSMD1|PSMD1|transcript|NR_034059.1|pseudogene|22/23|n.2707+130A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2577;p3_1000G_AF=0.514577;p3_1000G_AFR_AF=0.643;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=19993;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.3678;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232030861;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:88:142,0,88
chr2	231170715	rs6749	G	A	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.17;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.272;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6749;dbSNPBuildID=102;ANN=A|3_prime_UTR_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_002807.3|protein_coding|24/25|c.*3G>A|||||3|,A|3_prime_UTR_variant|MODIFIER|PSMD1|PSMD1|transcript|NM_001191037.1|protein_coding|23/24|c.*3G>A|||||3|,A|non_coding_transcript_exon_variant|MODIFIER|PSMD1|PSMD1|transcript|NR_034059.1|pseudogene|23/24|n.2857G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2904;p3_1000G_AF=0.579872;p3_1000G_AFR_AF=0.8828;p3_1000G_AMR_AF=0.3934;p3_1000G_AN=5008;p3_1000G_DP=19327;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.3678;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232035429;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3543,863;ESP6500_AA_AGE=339.9+/-306.0;ESP6500_AA_GTC=1426,691,86;ESP6500_CDS_SIZES=NM_002807.3:2862,NM_001191037.1:2769;ESP6500_CG=2.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=72;ESP6500_EA_AC=2780,5820;ESP6500_EA_AGE=678.2+/-403.4;ESP6500_EA_GTC=465,1850,1985;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002807.3:utr-3,NM_001191037.1:utr-3;ESP6500_GL=PSMD1;ESP6500_GRCh38_POSITION=2:231170715;ESP6500_GTC=1891,2541,2071;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002807.3:c.*3G>A,NM_001191037.1:c.*3G>A;ESP6500_MAF=32.3256,19.5869,48.616;ESP6500_TAC=6323,6683	GT:AD:DP:GQ:PL	0/1:14,17:31:99:488,0,397
chr2	231208199	rs11558174	T	C	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.348;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.599;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11558174;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|2/24|c.124T>C|p.Leu42Leu|163/6840|124/2457|42/818||,C|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|3/21|c.124T>C|p.Leu42Leu|316/2298|124/1998|42/665||,C|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|3/21|c.124T>C|p.Leu42Leu|318/2300|124/1998|42/665||;p3_1000G_AA=T|||;p3_1000G_AC=1242;p3_1000G_AF=0.248003;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=18620;p3_1000G_EAS_AF=0.1409;p3_1000G_EUR_AF=0.2853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232072912;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.183;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1601,2803;ESP6500_AA_AGE=494.6+/-363.0;ESP6500_AA_GTC=285,1031,886;ESP6500_CDS_SIZES=NM_025139.3:1998;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=80;ESP6500_EA_AC=2199,6401;ESP6500_EA_AGE=374.2+/-337.3;ESP6500_EA_GTC=281,1637,2382;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025139.3:coding-synonymous;ESP6500_GL=ARMC9;ESP6500_GRCh38_POSITION=2:231208199;ESP6500_GTC=566,2668,3268;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_025139.3:c.124T>C;ESP6500_HGVS_PROTEIN_VAR=NM_025139.3:p.(L42);ESP6500_MAF=25.5698,36.3533,29.2218;ESP6500_TAC=3800,9204	GT:AD:DP:GQ:PL	0/1:16,14:30:99:315,0,388
chr2	231222761	rs1626450	A	G	1025.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.37;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1626450;dbSNPBuildID=89;ANN=G|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|5/24|c.538A>G|p.Ile180Val|577/6840|538/2457|180/818||,G|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|6/21|c.538A>G|p.Ile180Val|730/2298|538/1998|180/665||,G|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|6/21|c.538A>G|p.Ile180Val|732/2300|538/1998|180/665||;p3_1000G_AA=G|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19845;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232087474;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4368,32;ESP6500_AA_GTC=2168,32,0;ESP6500_CDS_SIZES=NM_025139.3:1998;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=62;ESP6500_EA_AC=8531,61;ESP6500_EA_GTC=4235,61,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025139.3:missense;ESP6500_GL=ARMC9;ESP6500_GRCh38_POSITION=2:231222761;ESP6500_GS=29;ESP6500_GTC=6403,93,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_025139.3:c.538A>G;ESP6500_HGVS_PROTEIN_VAR=NM_025139.3:p.(I180V);ESP6500_MAF=0.71,0.7273,0.7158;ESP6500_PH=benign:0.005;ESP6500_TAC=12899,93	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:72:1|1:231222761_A_G:1054,72,0
chr2	231222762	rs1626451	T	A	1025.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.53;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1626451;dbSNPBuildID=89;ANN=A|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|5/24|c.539T>A|p.Ile180Lys|578/6840|539/2457|180/818||,A|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|6/21|c.539T>A|p.Ile180Lys|731/2298|539/1998|180/665||,A|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|6/21|c.539T>A|p.Ile180Lys|733/2300|539/1998|180/665||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19884;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232087475;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4398,2;ESP6500_AA_GTC=2198,2,0;ESP6500_CDS_SIZES=NM_025139.3:1998;ESP6500_CG=5.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=62;ESP6500_EA_AC=8591,1;ESP6500_EA_GTC=4295,1,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025139.3:missense;ESP6500_GL=ARMC9;ESP6500_GRCh38_POSITION=2:231222762;ESP6500_GS=102;ESP6500_GTC=6493,3,0;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_025139.3:c.539T>A;ESP6500_HGVS_PROTEIN_VAR=NM_025139.3:p.(I180K);ESP6500_MAF=0.0116,0.0455,0.0231;ESP6500_PH=benign:0.0;ESP6500_TAC=12989,3	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,24:24:72:1|1:231222761_A_G:1054,72,0
chr2	231235266	rs3752780	G	A	424.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.189;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.104;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752780;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|7/24|c.665G>A|p.Arg222His|704/6840|665/2457|222/818||,A|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|8/21|c.665G>A|p.Arg222His|857/2298|665/1998|222/665||,A|missense_variant|MODERATE|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|8/21|c.665G>A|p.Arg222His|859/2300|665/1998|222/665||;p3_1000G_AA=G|||;p3_1000G_AC=45;p3_1000G_AF=0.00898562;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=20483;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232099979;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_025139.3:1998;ESP6500_CG=4.7;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=71;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025139.3:missense;ESP6500_GL=ARMC9;ESP6500_GRCh38_POSITION=2:231235266;ESP6500_GS=29;ESP6500_GTC=0,4,6499;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025139.3:c.665G>A;ESP6500_HGVS_PROTEIN_VAR=NM_025139.3:p.(R222H);ESP6500_MAF=0.0233,0.0454,0.0308;ESP6500_PH=benign:0.031;ESP6500_TAC=4,13002	GT:AD:DP:GQ:PL	0/1:16,18:34:99:453,0,367
chr2	231270828	rs7604042	A	T	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.083;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=0.247;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7604042;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|11/23|c.1120-154A>T||||||,T|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|12/20|c.1120-154A>T||||||,T|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|12/20|c.1120-154A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2852;p3_1000G_AF=0.569489;p3_1000G_AFR_AF=0.8238;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=22851;p3_1000G_EAS_AF=0.6151;p3_1000G_EUR_AF=0.3837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232135541;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4898;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,10:19:99:300,0,284
chr2	231282159	rs3731773	G	A	252.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.721;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.699;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.291;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731773;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|16/23|c.1626+26G>A||||||,A|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|17/20|c.1626+26G>A||||||,A|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|17/20|c.1626+26G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=993;p3_1000G_AF=0.198283;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=20823;p3_1000G_EAS_AF=0.3026;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232146872;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1621,2785;ESP6500_AA_AGE=499.6+/-364.5;ESP6500_AA_GTC=316,989,898;ESP6500_CDS_SIZES=NM_025139.3:1998;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=100;ESP6500_EA_AC=237,8363;ESP6500_EA_AGE=95.6+/-157.4;ESP6500_EA_GTC=4,229,4067;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025139.3:intron;ESP6500_GL=ARMC9;ESP6500_GRCh38_POSITION=2:231282159;ESP6500_GTC=320,1218,4965;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025139.3:c.1626+26G>A;ESP6500_MAF=2.7558,36.7907,14.2857;ESP6500_TAC=1858,11148	GT:AD:DP:GQ:PL	0/1:16,11:27:99:281,0,389
chr2	231288482	rs77340623	C	T	276.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.471;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.28;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77340623;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|16/23|c.1627-2871C>T||||||,T|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|17/20|c.1627-2871C>T||||||,T|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|17/20|c.1627-2871C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=705;p3_1000G_AF=0.140775;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=17465;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.0219;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232153195;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:305,0,249
chr2	231288494	rs17620062	T	G	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.43;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.669;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17620062;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|16/23|c.1627-2859T>G||||||,G|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|17/20|c.1627-2859T>G||||||,G|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|17/20|c.1627-2859T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=903;p3_1000G_AF=0.180312;p3_1000G_AFR_AF=0.3707;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=17709;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232153207;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:300,0,258
chr2	231331760	rs1729082	T	A	288.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.449;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-1.024;SOR=1.675;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1729082;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|18/23|c.1774-33T>A||||||,A|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|19/20|c.1774-33T>A||||||,A|intron_variant|MODIFIER|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|19/20|c.1774-33T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1215;p3_1000G_AF=0.242612;p3_1000G_AFR_AF=0.146;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=20464;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.3171;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232196472;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=751,3655;ESP6500_AA_AGE=301.8+/-287.1;ESP6500_AA_GTC=59,633,1511;ESP6500_CDS_SIZES=NM_025139.3:1998;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=41;ESP6500_EA_AC=2609,5991;ESP6500_EA_AGE=416.2+/-352.0;ESP6500_EA_GTC=414,1781,2105;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025139.3:intron;ESP6500_GL=ARMC9;ESP6500_GRCh38_POSITION=2:231331760;ESP6500_GTC=473,2414,3616;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_025139.3:c.1774-33T>A;ESP6500_MAF=30.3372,17.0449,25.8342;ESP6500_TAC=3360,9646	GT:AD:DP:GQ:PL	0/1:20,12:32:99:317,0,530
chr2	231331852	rs1669083	C	T	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.5;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.097;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1669083;dbSNPBuildID=89;ANN=T|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|19/24|c.1833C>T|p.Leu611Leu|1872/6840|1833/2457|611/818||,T|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|20/21|c.1833C>T|p.Leu611Leu|2025/2298|1833/1998|611/665||,T|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|20/21|c.1833C>T|p.Leu611Leu|2027/2300|1833/1998|611/665||;p3_1000G_AA=C|||;p3_1000G_AC=1314;p3_1000G_AF=0.26238;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=20373;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.3241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232196564;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2781;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=957,3449;ESP6500_AA_AGE=360.9+/-315.4;ESP6500_AA_GTC=99,759,1345;ESP6500_CDS_SIZES=NM_025139.3:1998;ESP6500_CG=-11.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=71;ESP6500_EA_AC=2655,5945;ESP6500_EA_AGE=425.9+/-355.1;ESP6500_EA_GTC=429,1797,2074;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025139.3:coding-synonymous;ESP6500_GL=ARMC9;ESP6500_GRCh38_POSITION=2:231331852;ESP6500_GTC=528,2556,3419;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025139.3:c.1833C>T;ESP6500_HGVS_PROTEIN_VAR=NM_025139.3:p.(L611);ESP6500_MAF=30.8721,21.7204,27.7718;ESP6500_TAC=3612,9394	GT:AD:DP:GQ:PL	0/1:26,13:39:99:284,0,693
chr2	231331885	rs1669084	G	A	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.103;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.533;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=0.101;SOR=1.276;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1669084;dbSNPBuildID=89;ANN=A|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_001271466.2|protein_coding|19/24|c.1866G>A|p.Thr622Thr|1905/6840|1866/2457|622/818||,A|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_001291656.1|protein_coding|20/21|c.1866G>A|p.Thr622Thr|2058/2298|1866/1998|622/665||,A|synonymous_variant|LOW|ARMC9|ARMC9|transcript|NM_025139.5|protein_coding|20/21|c.1866G>A|p.Thr622Thr|2060/2300|1866/1998|622/665||;p3_1000G_AA=G|||;p3_1000G_AC=1474;p3_1000G_AF=0.294329;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.3372;p3_1000G_AN=5008;p3_1000G_DP=20619;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.3588;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232196597;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1237,3169;ESP6500_AA_AGE=423.6+/-340.2;ESP6500_AA_GTC=181,875,1147;ESP6500_CDS_SIZES=NM_025139.3:1998;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=56;ESP6500_EA_AC=2965,5635;ESP6500_EA_AGE=456.7+/-364.1;ESP6500_EA_GTC=525,1915,1860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025139.3:coding-synonymous;ESP6500_GL=ARMC9;ESP6500_GRCh38_POSITION=2:231331885;ESP6500_GTC=706,2790,3007;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_025139.3:c.1866G>A;ESP6500_HGVS_PROTEIN_VAR=NM_025139.3:p.(T622);ESP6500_MAF=34.4767,28.0754,32.3082;ESP6500_TAC=4202,8804	GT:AD:DP:GQ:PL	0/1:21,12:33:99:287,0,592
chr2	231398416	rs2290130	G	A	1283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.209;ClippingRankSum=0;DP=106;ExcessHet=3.0103;FS=1.568;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.03;SOR=0.897;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290130;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|B3GNT7|B3GNT7|transcript|NM_145236.2|protein_coding|2/2|c.697G>A|p.Val233Ile|877/3625|697/1206|233/401||;p3_1000G_AA=G|||;p3_1000G_AC=1168;p3_1000G_AF=0.233227;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.2378;p3_1000G_AN=5008;p3_1000G_DP=17143;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.2833;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232263127;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=642,3600;ESP6500_AA_GTC=55,532,1534;ESP6500_CDS_SIZES=NM_145236.2:1206;ESP6500_CG=3.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=108;ESP6500_EA_AC=2069,6407;ESP6500_EA_GTC=260,1549,2429;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145236.2:missense;ESP6500_GL=B3GNT7;ESP6500_GRCh38_POSITION=2:231398416;ESP6500_GS=29;ESP6500_GTC=315,2081,3963;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145236.2:c.697G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145236.2:p.(V233I);ESP6500_MAF=24.4101,15.1344,21.3162;ESP6500_PH=possibly-damaging:0.954;ESP6500_TAC=2711,10007	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1312,0,1336
chr2	231457245	rs7598759	C	T	860.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.045;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=2.103;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=2.29;SOR=0.45;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7598759;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|SNORA75|SNORA75|transcript|NR_002921.1|pseudogene||n.-1309G>A|||||1309|,T|upstream_gene_variant|MODIFIER|SNORD20|SNORD20|transcript|NR_002908.1|pseudogene||n.-722G>A|||||722|,T|downstream_gene_variant|MODIFIER|SNORD82|SNORD82|transcript|NR_004398.1|pseudogene||n.*3123G>A|||||3123|,T|intron_variant|MODIFIER|NCL|NCL|transcript|NM_005381.2|protein_coding|9/13|c.1448-121G>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=2436;p3_1000G_AF=0.486422;p3_1000G_AFR_AF=0.5772;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=21430;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.4195;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232321956;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,36:70:99:889,0,918
chr2	231460069	rs2442322	A	G	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.1;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=-1.106;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2442322;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|SNORA75|SNORA75|transcript|NR_002921.1|pseudogene||n.-4133T>C|||||4133|,G|upstream_gene_variant|MODIFIER|SNORD20|SNORD20|transcript|NR_002908.1|pseudogene||n.-3546T>C|||||3546|,G|downstream_gene_variant|MODIFIER|SNORD82|SNORD82|transcript|NR_004398.1|pseudogene||n.*299T>C|||||299|,G|intron_variant|MODIFIER|NCL|NCL|transcript|NM_005381.2|protein_coding|6/13|c.1040+83T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3991;p3_1000G_AF=0.796925;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=20463;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.7167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232324780;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:333,0,219
chr2	231461706	rs1131171	C	T	1298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.133;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=3.47;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.996;SOR=0.779;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1131171;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|NCL|NCL|transcript|NM_005381.2|protein_coding|3/14|c.447G>A|p.Glu149Glu|588/2717|447/2133|149/710||,T|upstream_gene_variant|MODIFIER|SNORD82|SNORD82|transcript|NR_004398.1|pseudogene||n.-1264G>A|||||1264|;p3_1000G_AA=.|||;p3_1000G_AC=2088;p3_1000G_AF=0.416933;p3_1000G_AFR_AF=0.4818;p3_1000G_AMR_AF=0.3141;p3_1000G_AN=5008;p3_1000G_DP=26008;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.2018;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232326417;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4356;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1981,2425;ESP6500_AA_AGE=557.3+/-379.7;ESP6500_AA_GTC=441,1099,663;ESP6500_CDS_SIZES=NM_005381.2:2133;ESP6500_CG=-3.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=345;ESP6500_EA_AC=1570,7030;ESP6500_EA_AGE=293.4+/-301.3;ESP6500_EA_GTC=143,1284,2873;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005381.2:coding-synonymous;ESP6500_GL=NCL;ESP6500_GRCh38_POSITION=2:231461706;ESP6500_GTC=584,2383,3536;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005381.2:c.447G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005381.2:p.(E149);ESP6500_MAF=18.2558,44.9614,27.3028;ESP6500_TAC=3551,9455	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1327,0,1490
chr2	231462090	rs2595514	A	T	191.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.453;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.312;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2595514;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|SNORD82|SNORD82|transcript|NR_004398.1|pseudogene||n.-1648T>A|||||1648|,T|intron_variant|MODIFIER|NCL|NCL|transcript|NM_005381.2|protein_coding|2/13|c.136-73T>A||||||;p3_1000G_AA=.|||;p3_1000G_AC=3688;p3_1000G_AF=0.736422;p3_1000G_AFR_AF=0.677;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=22753;p3_1000G_EAS_AF=0.7847;p3_1000G_EUR_AF=0.6948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232326801;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1217,535;ESP6500_AA_GTC=412,393,71;ESP6500_CDS_SIZES=NM_005381.2:2133;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=88;ESP6500_EA_AC=2641,1341;ESP6500_EA_GTC=868,905,218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005381.2:intron;ESP6500_GL=NCL;ESP6500_GRCh38_POSITION=2:231462090;ESP6500_GTC=1280,1298,289;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_005381.2:c.136-73T>A;ESP6500_MAF=33.6765,30.5365,32.7171;ESP6500_TAC=3858,1876	GT:AD:DP:GQ:PL	0/1:7,8:15:99:220,0,191
chr2	231525033	rs3752762	A	G	477.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.99;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.72;ReadPosRankSum=0.862;SOR=0.636;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752762;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|NMUR1|NMUR1|transcript|NM_006056.4|protein_coding|3/3|c.*10T>C|||||10|;p3_1000G_AA=G|||;p3_1000G_AC=1753;p3_1000G_AF=0.35004;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=19160;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.2763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232389744;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=703,3703;ESP6500_AA_AGE=742.7+/-411.4;ESP6500_AA_GTC=61,581,1561;ESP6500_CDS_SIZES=NM_006056.4:1281;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=47;ESP6500_EA_AC=2418,6182;ESP6500_EA_AGE=681.7+/-403.7;ESP6500_EA_GTC=326,1766,2208;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006056.4:utr-3;ESP6500_GL=NMUR1;ESP6500_GRCh38_POSITION=2:231525033;ESP6500_GTC=387,2347,3769;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006056.4:c.*10T>C;ESP6500_MAF=28.1163,15.9555,23.9966;ESP6500_TAC=3121,9885	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,14:22:99:0|1:231525019_G_T:506,0,201
chr2	231525440	rs3752763	A	G	989.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=3.131;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.68;SOR=1.156;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752763;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|NMUR1|NMUR1|transcript|NM_006056.4|protein_coding|2/2|c.899-15T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1752;p3_1000G_AF=0.34984;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=18023;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.2763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232390151;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=677,3725;ESP6500_AA_GTC=56,565,1580;ESP6500_CDS_SIZES=NM_006056.4:1281;ESP6500_CG=3.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=31;ESP6500_EA_AC=2404,6192;ESP6500_EA_GTC=326,1752,2220;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006056.4:intron;ESP6500_GL=NMUR1;ESP6500_GRCh38_POSITION=2:231525440;ESP6500_GTC=382,2317,3800;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006056.4:c.899-15T>C;ESP6500_MAF=27.9665,15.3794,23.7036;ESP6500_TAC=3081,9917	GT:AD:DP:GQ:PL	0/1:40,37:77:99:1018,0,1038
chr2	231525619	rs11693717	G	T	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.921;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=0.135;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11693717;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|NMUR1|NMUR1|transcript|NM_006056.4|protein_coding|2/2|c.899-194C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1754;p3_1000G_AF=0.35024;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=18246;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232390330;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:68:68,0,178
chr2	231593732	rs10933378	T	C	2686.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=1.771;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10933378;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|C2orf57|C2orf57|transcript|NM_152614.2|protein_coding|1/1|c.781T>C|p.Ser261Pro|869/1420|781/1188|261/395||;p3_1000G_AA=C|||;p3_1000G_AC=4649;p3_1000G_AF=0.928315;p3_1000G_AFR_AF=0.9274;p3_1000G_AMR_AF=0.9308;p3_1000G_AN=5008;p3_1000G_DP=20184;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.8917;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232458443;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8947;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4101,305;ESP6500_AA_AGE=165.4+/-196.9;ESP6500_AA_GTC=1902,297,4;ESP6500_CDS_SIZES=NM_152614.2:1188;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=87;ESP6500_EA_AC=7802,798;ESP6500_EA_AGE=186.0+/-233.6;ESP6500_EA_GTC=3548,706,46;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152614.2:missense;ESP6500_GL=C2orf57;ESP6500_GRCh38_POSITION=2:231593732;ESP6500_GS=74;ESP6500_GTC=5450,1003,50;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152614.2:c.781T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152614.2:p.(S261P);ESP6500_MAF=9.2791,6.9224,8.4807;ESP6500_PH=benign:0.001;ESP6500_TAC=11903,1103	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2715,225,0
chr2	231710579	rs371327509	A	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.207;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0.494;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371327509;dbSNPBuildID=138;ANN=C|upstream_gene_variant|MODIFIER|MIR1244-1|MIR1244-1.3|transcript|NR_036052.1.3|pseudogene||n.-2735A>C|||||2735|,C|upstream_gene_variant|MODIFIER|MIR1244-2|MIR1244-2.3|transcript|NR_036262.1.3|pseudogene||n.-2735A>C|||||2735|,C|upstream_gene_variant|MODIFIER|MIR1244-3|MIR1244-3.3|transcript|NR_036263.1.3|pseudogene||n.-2735A>C|||||2735|,C|upstream_gene_variant|MODIFIER|MIR1244-4|MIR1244-4.3|transcript|NR_128710.1.3|pseudogene||n.-2735A>C|||||2735|,C|intron_variant|MODIFIER|PTMA|PTMA|transcript|NM_001099285.1|protein_coding|1/4|c.46-769A>C||||||,C|intron_variant|MODIFIER|PTMA|PTMA|transcript|NM_002823.4|protein_coding|1/4|c.46-769A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=36;p3_1000G_AF=0.0071885;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0058;p3_1000G_AN=5008;p3_1000G_DP=8209;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232575289;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:112,0,139
chr2	231792031	rs117887698	T	C	261.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.06;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.521;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117887698;dbSNPBuildID=132;ANN=C|intron_variant|MODIFIER|COPS7B|COPS7B|transcript|NM_001308381.1|protein_coding|3/7|c.238+223T>C||||||,C|intron_variant|MODIFIER|COPS7B|COPS7B|transcript|NM_001282949.2|protein_coding|2/5|c.136+223T>C||||||,C|intron_variant|MODIFIER|COPS7B|COPS7B|transcript|NM_001282951.2|protein_coding|2/4|c.162+3299T>C||||||,C|intron_variant|MODIFIER|COPS7B|COPS7B|transcript|NM_001282950.2|protein_coding|3/7|c.238+223T>C||||||,C|intron_variant|MODIFIER|COPS7B|COPS7B|transcript|NM_001282952.2|protein_coding|2/5|c.-83-2232T>C||||||,C|intron_variant|MODIFIER|COPS7B|COPS7B|transcript|NM_022730.3|protein_coding|3/6|c.238+223T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=77;p3_1000G_AF=0.0153754;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0144;p3_1000G_AN=5008;p3_1000G_DP=17123;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0.0139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232656741;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,10:30:99:290,0,474
chr2	232024146	rs896990	T	G	280.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs896990;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NM_152383.4|protein_coding|3/20|c.211-131T>G||||||,G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NM_001257282.1|protein_coding|3/6|c.211-131T>G||||||,G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NR_046476.1|pseudogene|3/20|n.487-131T>G||||||,G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NR_046477.1|pseudogene|3/18|n.487-131T>G||||||,G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NM_001257281.1|protein_coding|3/13|c.211-131T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3868;p3_1000G_AF=0.772364;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=17468;p3_1000G_EAS_AF=0.7083;p3_1000G_EUR_AF=0.7406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=232888856;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:309,27,0
chr2	232163360	rs3116181	A	G	800.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.35;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-0.561;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3116181;dbSNPBuildID=103;ANN=G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NM_152383.4|protein_coding|8/20|c.951-99A>G||||||,G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NR_046476.1|pseudogene|8/20|n.1227-99A>G||||||,G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NR_046477.1|pseudogene|7/18|n.1203-99A>G||||||,G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NM_001257281.1|protein_coding|8/13|c.951-99A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1616;p3_1000G_AF=0.322684;p3_1000G_AFR_AF=0.1974;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=18758;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.6113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233028070;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2822;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,28:42:99:829,0,341
chr2	232336618	rs3811578;262631	A	G	891.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.09;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=6.255;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=-0.229;SOR=1.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3811578;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|DIS3L2|DIS3L2|transcript|NM_152383.4|protein_coding|21/21|c.2646A>G|p.Ser882Ser|2922/3502|2646/2658|882/885||,G|intron_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NM_001257281.1|protein_coding|13/13|c.1582-6727A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NR_046476.1|pseudogene|21/21|n.2849A>G||||||,G|non_coding_transcript_exon_variant|MODIFIER|DIS3L2|DIS3L2|transcript|NR_046477.1|pseudogene|19/19|n.3422A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1012;p3_1000G_AF=0.202077;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.2579;p3_1000G_AN=5008;p3_1000G_DP=9237;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.0865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233201328;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0665;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=549,3537;ESP6500_AA_GTC=37,475,1531;ESP6500_CDS_SIZES=NM_152383.4:2658,NM_001257281.1:1812;ESP6500_CG=2.9;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=19;ESP6500_EA_AC=690,7680;ESP6500_EA_GTC=28,634,3523;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152383.4:coding-synonymous,NM_001257281.1:intron;ESP6500_GL=DIS3L2;ESP6500_GRCh38_POSITION=2:232336618;ESP6500_GTC=65,1109,5054;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152383.4:c.2646A>G,NM_001257281.1:c.1582-6727A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152383.4:p.(S882),.;ESP6500_MAF=8.2437,13.4361,9.947;ESP6500_TAC=1239,11217;CLINVAR_AF_ESP=0.0995;CLINVAR_AF_EXAC=0.14249;CLINVAR_AF_TGP=0.2021;CLINVAR_ALLELEID=250657;CLINVAR_CLNDISDB=MedGen:C0796113,OMIM:267000,Orphanet:ORPHA2849|MedGen:CN169374;CLINVAR_CLNDN=Renal_hamartomas_nephroblastomatosis_and_fetal_gigantism|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.232336618A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28272;CLINVAR_GENEINFO=DIS3L2:129563;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3811578	GT:AD:DP:GQ:PL	0/1:20,29:49:99:920,0,468
chr2	232378818	rs377162921	ATGC	A	46.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.368;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=2.268;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=0.828;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs377162921;dbSNPBuildID=138;ANN=A|conservative_inframe_deletion|MODERATE|ALPP|ALPP|transcript|NM_001632.4|protein_coding|1/11|c.37_39delCTG|p.Leu13del|306/2971|37/1608|13/535||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:28,4:32:84:84,0,1199
chr2	232378950	rs2014448	T	C	523.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=5.993;MLEAC=1;MLEAF=0.5;MQ=55.71;MQRankSum=-5.035;QD=10.48;ReadPosRankSum=-0.792;SOR=1.079;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2014448;dbSNPBuildID=92;ANN=C|sequence_feature|LOW|ALPP|ALPP|helix:combinatorial_evidence_used_in_manual_assertion|NM_001632.4|protein_coding|1/10|c.77-21T>C||||||,C|intron_variant|MODIFIER|ALPP|ALPP|transcript|NM_001632.4|protein_coding|1/10|c.77-21T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4756;p3_1000G_AF=0.949681;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=15770;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.9443;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233243660;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4315,91;ESP6500_AA_GTC=2114,87,2;ESP6500_CDS_SIZES=NM_001632.3:1608;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=77;ESP6500_EA_AC=7987,611;ESP6500_EA_GTC=3709,569,21;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001632.3:intron;ESP6500_GL=ALPP;ESP6500_GRCh38_POSITION=2:232378950;ESP6500_GTC=5823,656,23;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001632.3:c.77-21T>C;ESP6500_MAF=7.1063,2.0654,5.3983;ESP6500_TAC=12302,702	GT:AD:DP:GQ:PL	0/1:29,21:50:99:552,0,840
chr2	232379876	rs2853374	C	G	2103.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=188;ExcessHet=3.0103;FS=1.146;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.286;SOR=0.799;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2853374;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|ALPP|ALPP|transcript|NM_001632.4|protein_coding|5/11|c.597C>G|p.Ser199Ser|866/2971|597/1608|199/535||;p3_1000G_AA=G|||;p3_1000G_AC=4748;p3_1000G_AF=0.948083;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=17790;p3_1000G_EAS_AF=0.9345;p3_1000G_EUR_AF=0.9433;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233244586;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9622;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4315,89;ESP6500_AA_GTC=2114,87,1;ESP6500_CDS_SIZES=NM_001632.3:1608;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=59;ESP6500_EA_AC=7984,610;ESP6500_EA_GTC=3703,578,16;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001632.3:coding-synonymous;ESP6500_GL=ALPP;ESP6500_GRCh38_POSITION=2:232379876;ESP6500_GTC=5817,665,17;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001632.3:c.597C>G;ESP6500_HGVS_PROTEIN_VAR=NM_001632.3:p.(S199);ESP6500_MAF=7.098,2.0209,5.3778;ESP6500_TAC=12299,699	GT:AD:DP:GQ:PL	0/1:107,81:188:99:2132,0,2819
chr2	232380227	rs1048989	A	G	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=6.966;MLEAC=1;MLEAF=0.5;MQ=58.53;MQRankSum=-4.608;QD=3.08;ReadPosRankSum=-1.378;SOR=1.845;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1048989;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ALPP|ALPP|transcript|NM_001632.4|protein_coding|6/11|c.699A>G|p.Gly233Gly|968/2971|699/1608|233/535||	GT:AD:DP:GQ:PL	0/1:48,12:60:99:213,0,1264
chr2	232380380	rs2260307	A	G	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.281;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.3;MQRankSum=-5.322;QD=6.92;ReadPosRankSum=-1.814;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2260307;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ALPP|ALPP|transcript|NM_001632.4|protein_coding|6/10|c.793-40A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3125;p3_1000G_AF=0.624002;p3_1000G_AFR_AF=0.5507;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=10634;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.5328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233245090;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:51,25:76:99:554,0,1482
chr2	232380431	rs2260309	T	C	461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.41;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.44;MQRankSum=-7.93;QD=5.19;ReadPosRankSum=-0.234;SOR=0.727;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2260309;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|ALPP|ALPP|transcript|NM_001632.4|protein_coding|7/11|c.804T>C|p.Tyr268Tyr|1073/2971|804/1608|268/535||;ESP6500_AA=C;ESP6500_AA_AC=2814,1592;ESP6500_AA_GTC=893,1028,282;ESP6500_CDS_SIZES=NM_001632.3:1608;ESP6500_CG=-2.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=89;ESP6500_EA_AC=4341,4259;ESP6500_EA_GTC=878,2585,837;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001632.3:coding-synonymous;ESP6500_GL=ALPP;ESP6500_GRCh38_POSITION=2:232380431;ESP6500_GTC=1771,3613,1119;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001632.3:c.804T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001632.3:p.(Y268);ESP6500_MAF=49.5233,36.1325,44.9869;ESP6500_TAC=7155,5851	GT:AD:DP:GQ:PL	0/1:66,23:89:99:490,0,1809
chr2	232380500	rs13034594	C	T	654.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.934;ClippingRankSum=0;DP=119;ExcessHet=3.0103;FS=1.723;MLEAC=1;MLEAF=0.5;MQ=52.57;MQRankSum=-7.163;QD=5.5;ReadPosRankSum=-1.144;SOR=0.936;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13034594;dbSNPBuildID=121;ANN=T|splice_region_variant&intron_variant|LOW|ALPP|ALPP|transcript|NM_001632.4|protein_coding|7/10|c.865+8C>T||||||	GT:AD:DP:GQ:PL	0/1:87,32:119:99:683,0,2580
chr2	232381380	rs568583522	G	T	1256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.762;ClippingRankSum=0;DP=112;ExcessHet=3.0103;FS=0.709;MLEAC=1;MLEAF=0.5;MQ=58.11;MQRankSum=1.22;QD=11.22;ReadPosRankSum=-1.03;SOR=0.805;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|downstream_gene_variant|MODIFIER|ECEL1P2|ECEL1P2|transcript|NR_028501.1|pseudogene||n.*4370C>A|||||4370|,T|intron_variant|MODIFIER|ALPP|ALPP|transcript|NM_001632.4|protein_coding|10/10|c.1309+13G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18241;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233246090;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1285,0,1971
chr2	232406987	rs369374441;rs3833560;rs549877880	TAC	T	457.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.15;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=4.265;MLEAC=1;MLEAF=0.5;MQ=59.62;MQRankSum=-0.671;QD=18.31;ReadPosRankSum=1;SOR=0.197;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369374441;dbSNPBuildID=138,107;ANN=T|intron_variant|MODIFIER|ALPPL2|ALPPL2|transcript|NM_031313.2|protein_coding|1/10|c.67+44_67+45delCA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1215;p3_1000G_AF=0.242612;p3_1000G_AFR_AF=0.3109;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=18179;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.325;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233271697;p3_1000G_GRCH37_REF=TAC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2219;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:10,15:25:99:495,0,275
chr2	232407452	rs2678517	G	A	887.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-6.049;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=1.956;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.529;SOR=0.96;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2678517;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ALPPL2|ALPPL2|transcript|NM_031313.2|protein_coding|3/10|c.300+51G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1043;p3_1000G_AF=0.208267;p3_1000G_AFR_AF=0.2005;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=18949;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.3191;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233272162;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2045;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=839,3563;ESP6500_AA_AGE=305.5+/-289.0;ESP6500_AA_GTC=75,689,1437;ESP6500_CDS_SIZES=NM_031313.2:1599;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=2510,6090;ESP6500_EA_AGE=380.4+/-339.6;ESP6500_EA_GTC=385,1740,2175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031313.2:intron;ESP6500_GL=ALPPL2;ESP6500_GRCh38_POSITION=2:232407452;ESP6500_GTC=460,2429,3612;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031313.2:c.300+51G>A;ESP6500_MAF=29.186,19.0595,25.7576;ESP6500_TAC=3349,9653	GT:AD:DP:GQ:PL	0/1:40,33:73:99:916,0,1405
chr2	232408215	rs2678518	A	G	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=3.304;MLEAC=1;MLEAF=0.5;MQ=55.92;MQRankSum=-4.179;QD=10.99;ReadPosRankSum=0.242;SOR=1.352;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2678518;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ALPPL2|ALPPL2|transcript|NM_031313.2|protein_coding|5/10|c.649-52A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1153;p3_1000G_AF=0.230232;p3_1000G_AFR_AF=0.2678;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=13370;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233272925;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2106;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=385,1367;ESP6500_AA_GTC=48,289,539;ESP6500_CDS_SIZES=NM_031313.2:1599;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=1161,2821;ESP6500_EA_GTC=194,773,1024;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031313.2:intron;ESP6500_GL=ALPPL2;ESP6500_GRCh38_POSITION=2:232408215;ESP6500_GTC=242,1062,1563;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031313.2:c.649-52A>G;ESP6500_MAF=29.1562,21.9749,26.962;ESP6500_TAC=1546,4188	GT:AD:DP:GQ:PL	0/1:19,13:32:99:380,0,539
chr2	232408301	rs75920311	C	G	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.49;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=15.413;MLEAC=1;MLEAF=0.5;MQ=56.33;MQRankSum=-5.016;QD=5.43;ReadPosRankSum=1.28;SOR=4.029;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75920311;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|ALPPL2|ALPPL2|transcript|NM_031313.2|protein_coding|6/11|c.683C>G|p.Pro228Arg|736/2494|683/1599|228/532||	GT:AD:DP:GQ:PL	0/1:25,7:32:99:202,0,835
chr2	232409435	rs2090543	G	C	689.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.259;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=10.317;MLEAC=1;MLEAF=0.5;MQ=52.8;MQRankSum=-3.509;QD=9.32;ReadPosRankSum=-0.409;SOR=1.646;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2090543;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|ALPPL2|ALPPL2|transcript|NM_031313.2|protein_coding|10/11|c.1287G>C|p.Thr429Thr|1340/2494|1287/1599|429/532||;p3_1000G_AA=N|||;p3_1000G_AC=3851;p3_1000G_AF=0.76897;p3_1000G_AFR_AF=0.5998;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=8455;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.8509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233274145;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.774;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:45,29:74:99:718,0,1383
chr2	232409459	rs2091555	T	C	899.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=3.375;MLEAC=1;MLEAF=0.5;MQ=55.67;MQRankSum=-4.421;QD=13.04;ReadPosRankSum=0.214;SOR=1.226;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2091555;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|ALPPL2|ALPPL2|transcript|NM_031313.2|protein_coding|10/10|c.1300+11T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=723;p3_1000G_AF=0.144369;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=9836;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.2276;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233274169;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:36,33:69:99:928,0,1023
chr2	232458467	rs2003780	T	C	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.37;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.624;SOR=0.706;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2003780;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|ALPI|ALPI|transcript|NM_001631.4|protein_coding|9/10|c.1183+59T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3396;p3_1000G_AF=0.678115;p3_1000G_AFR_AF=0.6475;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=15931;p3_1000G_EAS_AF=0.7421;p3_1000G_EUR_AF=0.6322;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233323177;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,17:50:99:494,0,1009
chr2	232480281	rs2741279	T	G	982.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=0.76;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2741279;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ECEL1|ECEL1|transcript|NM_004826.3|protein_coding|17/17|c.2229-29A>C||||||,G|intron_variant|MODIFIER|ECEL1|ECEL1|transcript|NM_001290787.1|protein_coding|17/17|c.2223-29A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2734;p3_1000G_AF=0.545927;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=15132;p3_1000G_EAS_AF=0.6905;p3_1000G_EUR_AF=0.4702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233344991;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;ESP6500_AA_AC=2245,2161;ESP6500_AA_GTC=576,1093,534;ESP6500_CDS_SIZES=NM_004826.2:2328;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=41;ESP6500_EA_AC=3952,4644;ESP6500_EA_GTC=947,2058,1293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004826.2:intron;ESP6500_GL=ECEL1;ESP6500_GRCh38_POSITION=2:232480281;ESP6500_GTC=1523,3151,1827;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004826.2:c.2229-29A>C;ESP6500_MAF=45.9749,49.0468,47.6619;ESP6500_TAC=6197,6805	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1011,87,0
chr2	232480539	rs1190432	C	T	460.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.439;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-0.769;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1190432;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|ECEL1|ECEL1|transcript|NM_004826.3|protein_coding|16/17|c.2152-64G>A||||||,T|intron_variant|MODIFIER|ECEL1|ECEL1|transcript|NM_001290787.1|protein_coding|16/17|c.2146-64G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1467;p3_1000G_AF=0.292931;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=16352;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233345249;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,16:27:99:489,0,266
chr2	232481952	rs909432	A	C	470.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.84;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs909432;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|ECEL1|ECEL1|transcript|NM_004826.3|protein_coding|12/17|c.1797-103T>G||||||,C|intron_variant|MODIFIER|ECEL1|ECEL1|transcript|NM_001290787.1|protein_coding|12/17|c.1791-103T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4789;p3_1000G_AF=0.95627;p3_1000G_AFR_AF=0.8752;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=14670;p3_1000G_EAS_AF=0.9802;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233346662;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:499,36,0
chr2	232484878	rs1529874;128957	G	A	1444.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1529874;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|ECEL1|ECEL1|transcript|NM_004826.3|protein_coding|5/18|c.982C>T|p.His328Tyr|1224/2896|982/2328|328/775||,A|missense_variant|MODERATE|ECEL1|ECEL1|transcript|NM_001290787.1|protein_coding|5/18|c.982C>T|p.His328Tyr|1224/2890|982/2322|328/773||;p3_1000G_AA=A|||;p3_1000G_AC=4821;p3_1000G_AF=0.96266;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=22108;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233349588;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3985,421;ESP6500_AA_AGE=208.5+/-229.5;ESP6500_AA_GTC=1812,361,30;ESP6500_CDS_SIZES=NM_004826.2:2328;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=113;ESP6500_EA_AC=8475,125;ESP6500_EA_AGE=64.9+/-127.2;ESP6500_EA_GTC=4176,123,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004826.2:missense;ESP6500_GL=ECEL1;ESP6500_GRCh38_POSITION=2:232484878;ESP6500_GS=83;ESP6500_GTC=5988,484,31;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004826.2:c.982C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004826.2:p.(H328Y);ESP6500_MAF=1.4535,9.5552,4.1981;ESP6500_PH=benign:0.0;ESP6500_TAC=12460,546;CLINVAR_ALLELEID=134404;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.232484878G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):O95672#VAR_012814;CLINVAR_GENEINFO=ECEL1:9427;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1529874	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1473,144,0
chr2	232485290	rs2573246	C	G	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.473;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=1.14;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2573246;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ECEL1|ECEL1|transcript|NM_004826.3|protein_coding|2/17|c.787-23G>C||||||,G|intron_variant|MODIFIER|ECEL1|ECEL1|transcript|NM_001290787.1|protein_coding|2/17|c.787-23G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3375;p3_1000G_AF=0.673922;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=20510;p3_1000G_EAS_AF=0.7609;p3_1000G_EUR_AF=0.7276;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233350000;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.774;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2190,2216;ESP6500_AA_AGE=576.2+/-384.2;ESP6500_AA_GTC=545,1100,558;ESP6500_CDS_SIZES=NM_004826.2:2328;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=6231,2369;ESP6500_EA_AGE=383.5+/-340.8;ESP6500_EA_GTC=2282,1667,351;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004826.2:intron;ESP6500_GL=ECEL1;ESP6500_GRCh38_POSITION=2:232485290;ESP6500_GTC=2827,2767,909;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004826.2:c.787-23G>C;ESP6500_MAF=27.5465,49.7049,35.253;ESP6500_TAC=8421,4585	GT:AD:DP:GQ:PL	0/1:8,4:12:99:99,0,237
chr2	232520686	rs1550094	G	A	340.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1550094;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding|1/13|c.88G>A|p.Ala30Thr|224/2157|88/1812|30/603||;p3_1000G_AA=A|||;p3_1000G_AC=3334;p3_1000G_AF=0.665735;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=14183;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.663;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233385396;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6902;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:369,36,0
chr2	232521519	rs2853444	T	C	1072.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.61;SOR=1.839;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2853444;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.-4697T>C|||||4641|,C|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.-4697T>C|||||4641|,C|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.-6771T>C|||||4641|,C|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.-6771T>C|||||4641|,C|intron_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding|2/12|c.205+91T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4303;p3_1000G_AF=0.859225;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.8617;p3_1000G_AN=5008;p3_1000G_DP=19088;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.7763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233386229;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.865;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1101,93,0
chr2	232521618	rs2741295	C	T	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.119;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=9.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=1.58;SOR=0.037;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2741295;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.-4598C>T|||||4542|,T|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.-4598C>T|||||4542|,T|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.-6672C>T|||||4542|,T|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.-6672C>T|||||4542|,T|intron_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding|2/12|c.205+190C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=873;p3_1000G_AF=0.174321;p3_1000G_AFR_AF=0.1362;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=19592;p3_1000G_EAS_AF=0.3046;p3_1000G_EUR_AF=0.1849;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233386328;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,11:16:99:319,0,164
chr2	232522925	rs733603	A	G	769.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=1.292;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs733603;dbSNPBuildID=86;ANN=G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.-3291A>G|||||3235|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.-3291A>G|||||3235|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.-5365A>G|||||3235|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.-5365A>G|||||3235|,G|intron_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding|6/12|c.706+64A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4312;p3_1000G_AF=0.861022;p3_1000G_AFR_AF=0.8336;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=12636;p3_1000G_EAS_AF=0.9425;p3_1000G_EUR_AF=0.7893;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233387635;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:798,57,0
chr2	232523601	rs733602	C	T	1714.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=1.101;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs733602;dbSNPBuildID=86;ANN=T|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.-2615C>T|||||2559|,T|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.-2615C>T|||||2559|,T|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.-4689C>T|||||2559|,T|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.-4689C>T|||||2559|,T|intron_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding|8/12|c.1012+23C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1406;p3_1000G_AF=0.280751;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=16314;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.2753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233388311;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3487;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1743,168,0
chr2	232524103	rs2741299	T	G	693.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.69;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2741299;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding|10/13|c.1251T>G|p.Pro417Pro|1387/2157|1251/1812|417/603||,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.-2113T>G|||||2057|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.-2113T>G|||||2057|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.-4187T>G|||||2057|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.-4187T>G|||||2057|;p3_1000G_AA=G|||;p3_1000G_AC=4315;p3_1000G_AF=0.861621;p3_1000G_AFR_AF=0.8328;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=11912;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.7833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233388813;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:722,60,0
chr2	232524457	rs58091792	G	C	239.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs58091792;dbSNPBuildID=129;ANN=C|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.-1759G>C|||||1703|,C|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.-1759G>C|||||1703|,C|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.-3833G>C|||||1703|,C|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.-3833G>C|||||1703|,C|intron_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding|11/12|c.1414+88G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1454;p3_1000G_AF=0.290335;p3_1000G_AFR_AF=0.1256;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=14833;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.2674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233389167;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:268,24,0
chr2	232525208	rs2853447	A	G	613.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2853447;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding|12/12|c.1522-8A>G||||||,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.-1008A>G|||||952|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.-1008A>G|||||952|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.-3082A>G|||||952|,G|upstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.-3082A>G|||||952|;p3_1000G_AA=N|||;p3_1000G_AC=3544;p3_1000G_AF=0.707668;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=11467;p3_1000G_EAS_AF=0.7788;p3_1000G_EUR_AF=0.666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233389918;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7219;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:642,63,0
chr2	232526227	rs2245601;128757	A	G	1306.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.7;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2245601;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|CHRND|CHRND|transcript|NM_000751.2|protein_coding|1/12|c.12A>G|p.Pro4Pro|68/2963|12/1554|4/517||,G|synonymous_variant|LOW|CHRND|CHRND|transcript|NM_001256657.1|protein_coding|1/11|c.12A>G|p.Pro4Pro|68/2918|12/1509|4/502||,G|5_prime_UTR_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding|1/10|c.-260A>G|||||2063|,G|5_prime_UTR_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding|1/12|c.-260A>G|||||2063|,G|downstream_gene_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding||c.*721A>G|||||512|;p3_1000G_AA=A|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.3502;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=11714;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.4483;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233390937;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4816;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1676,2730;ESP6500_AA_AGE=501.5+/-365.0;ESP6500_AA_GTC=313,1050,840;ESP6500_CDS_SIZES=NM_001256657.1:1509,NM_000751.2:1554;ESP6500_CG=-4.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=4159,4439;ESP6500_EA_AGE=564.2+/-388.3;ESP6500_EA_GTC=1024,2111,1164;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001256657.1:coding-synonymous,NM_000751.2:coding-synonymous;ESP6500_GL=CHRND;ESP6500_GRCh38_POSITION=2:232526227;ESP6500_GTC=1337,3161,2004;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001256657.1:c.12A>G,NM_000751.2:c.12A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001256657.1:p.(P4),NM_000751.2:p.(P4);ESP6500_MAF=48.3717,38.039,44.8708;ESP6500_TAC=5835,7169;CLINVAR_AF_ESP=0.4487;CLINVAR_AF_TGP=0.4834;CLINVAR_ALLELEID=134206;CLINVAR_CLNDISDB=MedGen:C0265261,OMIM:265000,Orphanet:ORPHA294060|MedGen:CN169374|MedGen:CN239246;CLINVAR_CLNDN=Multiple_pterygium_syndrome_Escobar_type|not_specified|Congenital_Myasthenic_Syndrome,_Dominant/Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.232526227A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28269;CLINVAR_GENEINFO=CHRND:1144;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2245601	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1335,130,0
chr2	232526753	rs2278478	A	G	224.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.11;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278478;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding||c.*1247A>G|||||1038|,G|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding|2/11|c.198+79A>G||||||,G|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding|2/10|c.198+79A>G||||||,G|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding|2/9|c.-74+79A>G||||||,G|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding|2/11|c.-74+79A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1365;p3_1000G_AF=0.272564;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=16327;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.2664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233391463;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:253,21,0
chr2	232527255	rs4973537	A	G	912.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=6.593;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4973537;dbSNPBuildID=111;ANN=G|downstream_gene_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding||c.*1749A>G|||||1540|,G|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding|2/11|c.199-146A>G||||||,G|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding|2/10|c.198+581A>G||||||,G|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding|2/9|c.-73-146A>G||||||,G|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding|2/11|c.-73-146A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2116;p3_1000G_AF=0.422524;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=16166;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.3579;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233391965;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4703;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:941,78,0
chr2	232527302	rs1460406237	G	GAA	659.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.479;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.521;SOR=0.868;INS;HET;VARTYPE=INS;dbSNPBuildID=151;ANN=GAA|downstream_gene_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding||c.*1796_*1797insAA|||||1588|,GAA|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding|2/11|c.199-91_199-90dupAA||||||INFO_REALIGN_3_PRIME,GAA|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding|2/10|c.198+636_198+637dupAA||||||INFO_REALIGN_3_PRIME,GAA|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding|2/9|c.-73-91_-73-90dupAA||||||INFO_REALIGN_3_PRIME,GAA|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding|2/11|c.-73-91_-73-90dupAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:23,30:53:99:688,0,717
chr2	232527310	rs113930536	A	AAAAG	489.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.81;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=1.2;SOR=0.569;INS;HET;VARTYPE=INS;dbSNP138_ID=rs113930536;dbSNPBuildID=132;ANN=AAAAG|downstream_gene_variant|MODIFIER|PRSS56|PRSS56|transcript|NM_001195129.1|protein_coding||c.*1804_*1805insAAAG|||||1596|,AAAAG|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding|2/11|c.199-90_199-89insAAGA||||||INFO_REALIGN_3_PRIME,AAAAG|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding|2/10|c.198+637_198+638insAAGA||||||INFO_REALIGN_3_PRIME,AAAAG|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding|2/9|c.-73-90_-73-89insAAGA||||||INFO_REALIGN_3_PRIME,AAAAG|intron_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding|2/11|c.-73-90_-73-89insAAGA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:46,19:65:99:527,0,1382
chr2	232535364	rs2767;334975	A	G	799.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2767;dbSNPBuildID=36;ANN=G|3_prime_UTR_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding|12/12|c.*52A>G|||||52|,G|3_prime_UTR_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding|11/11|c.*52A>G|||||52|,G|3_prime_UTR_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding|10/10|c.*52A>G|||||52|,G|3_prime_UTR_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding|12/12|c.*52A>G|||||52|,G|upstream_gene_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding||c.-4384A>G|||||4363|;p3_1000G_AA=G|||;p3_1000G_AC=2083;p3_1000G_AF=0.415935;p3_1000G_AFR_AF=0.2663;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=18308;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233400074;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=742,1912;ESP6500_AA_GTC=111,520,696;ESP6500_CDS_SIZES=NM_001256657.1:1509,NM_000751.2:1554;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=26;ESP6500_EA_AC=1702,2916;ESP6500_EA_GTC=333,1036,940;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001256657.1:utr-3,NM_000751.2:utr-3;ESP6500_GL=CHRND;ESP6500_GRCh38_POSITION=2:232535364;ESP6500_GTC=444,1556,1636;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001256657.1:c.*52A>G,NM_000751.2:c.*52A>G;ESP6500_MAF=36.8558,27.9578,33.6084;ESP6500_TAC=2444,4828;CLINVAR_AF_ESP=0.3361;CLINVAR_AF_EXAC=0.41187;CLINVAR_AF_TGP=0.4159;CLINVAR_ALLELEID=285922;CLINVAR_CLNDISDB=MedGen:C0265261,OMIM:265000,Orphanet:ORPHA294060|MedGen:CN239246;CLINVAR_CLNDN=Multiple_pterygium_syndrome_Escobar_type|Congenital_Myasthenic_Syndrome,_Dominant/Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.232535364A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28316;CLINVAR_GENEINFO=CHRND:1144|CHRNG:1146;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2767	GT:AD:DP:GQ:PL	1/1:0,25:25:75:828,75,0
chr2	232539584	rs11674608	C	G	443.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.8;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11674608;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding||c.-164C>G|||||143|,G|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.*4272C>G|||||2919|,G|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.*4272C>G|||||2919|,G|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.*4272C>G|||||2919|,G|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.*4272C>G|||||2919|,G|intergenic_region|MODIFIER|CHRND-CHRNG|CHRND-CHRNG|intergenic_region|CHRND-CHRNG|||n.232539584C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2081;p3_1000G_AF=0.415535;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=18476;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233404294;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:472,36,0
chr2	232539624	rs140146282;rs59498978;rs749888751	C	CGGGCTGGCT	586.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.43;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59498978,rs140146282;dbSNPBuildID=134,144,138;ANN=CGGGCTGGCT|upstream_gene_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding||c.-124_-123insGGGCTGGCT|||||102|,CGGGCTGGCT|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.*4312_*4313insGGGCTGGCT|||||2960|,CGGGCTGGCT|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.*4312_*4313insGGGCTGGCT|||||2960|,CGGGCTGGCT|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.*4312_*4313insGGGCTGGCT|||||2960|,CGGGCTGGCT|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.*4312_*4313insGGGCTGGCT|||||2960|,CGGGCTGGCT|intergenic_region|MODIFIER|CHRND-CHRNG|CHRND-CHRNG|intergenic_region|CHRND-CHRNG|||n.232539624_232539625insGGGCTGGCT||||||;p3_1000G_AC=1243;p3_1000G_AF=0.248203;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=17683;p3_1000G_EAS_AF=0.3294;p3_1000G_EUR_AF=0.2276;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233404334;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,13:13:42:624,42,0
chr2	232539880	rs12996322	G	C	746.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.02;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12996322;dbSNPBuildID=121;ANN=C|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_000751.2|protein_coding||c.*4568G>C|||||3215|,C|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001256657.1|protein_coding||c.*4568G>C|||||3215|,C|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311195.1|protein_coding||c.*4568G>C|||||3215|,C|downstream_gene_variant|MODIFIER|CHRND|CHRND|transcript|NM_001311196.1|protein_coding||c.*4568G>C|||||3215|,C|intron_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding|1/11|c.55+78G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1747;p3_1000G_AF=0.348842;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=15641;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233404590;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:775,63,0
chr2	232543480	rs34697564	A	AC	1164.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.73;SOR=1.721;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34697564,rs60960955;dbSNPBuildID=126;ANN=AC|downstream_gene_variant|MODIFIER|TIGD1|TIGD1|transcript|NM_145702.2|protein_coding||c.*4626dupG|||||4489|,AC|intron_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding|8/11|c.921-97dupC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1202,126,0
chr2	232543510	rs10714586;rs398091155	AG	A	1519.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=1.519;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10714586;dbSNPBuildID=126,138;ANN=A|downstream_gene_variant|MODIFIER|TIGD1|TIGD1|transcript|NM_145702.2|protein_coding||c.*4596delC|||||4459|,A|intron_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding|8/11|c.921-68delG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1557,150,0
chr2	232543529	rs2573206	C	G	2113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.37;SOR=1.773;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2573206;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|TIGD1|TIGD1|transcript|NM_145702.2|protein_coding||c.*4578G>C|||||4441|,G|intron_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding|8/11|c.921-56C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4318;p3_1000G_AF=0.86222;p3_1000G_AFR_AF=0.8162;p3_1000G_AMR_AF=0.879;p3_1000G_AN=5008;p3_1000G_DP=16774;p3_1000G_EAS_AF=0.9692;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233408239;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2142,177,0
chr2	232543573	rs13018423;259670	C	T	2608.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.88;SOR=1.379;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13018423;dbSNPBuildID=121;ANN=T|downstream_gene_variant|MODIFIER|TIGD1|TIGD1|transcript|NM_145702.2|protein_coding||c.*4534G>A|||||4397|,T|intron_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding|8/11|c.921-12C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1489;p3_1000G_AF=0.297324;p3_1000G_AFR_AF=0.0802;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=18450;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.2644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233408283;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=520,3886;ESP6500_AA_AGE=235.8+/-248.2;ESP6500_AA_GTC=36,448,1719;ESP6500_CDS_SIZES=NM_005199.4:1554;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=134;ESP6500_EA_AC=2319,6281;ESP6500_EA_AGE=383.3+/-340.7;ESP6500_EA_GTC=320,1679,2301;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005199.4:intron;ESP6500_GL=CHRNG;ESP6500_GRCh38_POSITION=2:232543573;ESP6500_GTC=356,2127,4020;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005199.4:c.921-12C>T;ESP6500_MAF=26.9651,11.8021,21.8284;ESP6500_TAC=2839,10167;CLINVAR_AF_ESP=0.2183;CLINVAR_AF_EXAC=0.30894;CLINVAR_AF_TGP=0.2973;CLINVAR_ALLELEID=250670;CLINVAR_CLNDISDB=MedGen:C0265261,OMIM:265000,Orphanet:ORPHA294060|MedGen:CN169374;CLINVAR_CLNDN=Multiple_pterygium_syndrome_Escobar_type|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.232543573C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28363;CLINVAR_GENEINFO=CHRNG:1146;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13018423	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2637,231,0
chr2	232549061	rs6752614	C	T	108.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.78;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6752614;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|TIGD1|TIGD1|transcript|NM_145702.2|protein_coding|1/1|c.822G>A|p.Ala274Ala|1530/2621|822/1776|274/591||,T|upstream_gene_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_004846.3|protein_coding||c.-1664C>T|||||1526|,T|upstream_gene_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276336.1|protein_coding||c.-1664C>T|||||1526|,T|upstream_gene_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276337.1|protein_coding||c.-1664C>T|||||1526|,T|upstream_gene_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001282958.1|protein_coding||c.-1664C>T|||||1526|,T|downstream_gene_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding||c.*3345C>T|||||2733|,T|downstream_gene_variant|MODIFIER|MIR5001|MIR5001|transcript|NR_049797.1|pseudogene||n.*1413G>A|||||1413|;p3_1000G_AA=T|||;p3_1000G_AC=2387;p3_1000G_AF=0.476637;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=20248;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.4692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233413771;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=704,1944;ESP6500_AA_GTC=101,502,721;ESP6500_CDS_SIZES=NM_145702.1:1776;ESP6500_CG=-0.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=13;ESP6500_EA_AC=2228,2386;ESP6500_EA_GTC=555,1118,634;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145702.1:coding-synonymous;ESP6500_GL=TIGD1;ESP6500_GRCh38_POSITION=2:232549061;ESP6500_GTC=656,1620,1355;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145702.1:c.822G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145702.1:p.(A274);ESP6500_MAF=48.2878,26.5861,40.3746;ESP6500_TAC=2932,4330	GT:AD:DP:GQ:PL	1/1:0,5:5:15:137,15,0
chr2	232549631	rs4973540	C	T	319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.07;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4973540;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|TIGD1|TIGD1|transcript|NM_145702.2|protein_coding|1/1|c.252G>A|p.Lys84Lys|960/2621|252/1776|84/591||,T|upstream_gene_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_004846.3|protein_coding||c.-1094C>T|||||956|,T|upstream_gene_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276336.1|protein_coding||c.-1094C>T|||||956|,T|upstream_gene_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276337.1|protein_coding||c.-1094C>T|||||956|,T|upstream_gene_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001282958.1|protein_coding||c.-1094C>T|||||956|,T|downstream_gene_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding||c.*3915C>T|||||3303|,T|downstream_gene_variant|MODIFIER|MIR5001|MIR5001|transcript|NR_049797.1|pseudogene||n.*843G>A|||||843|;p3_1000G_AA=T|||;p3_1000G_AC=2062;p3_1000G_AF=0.411741;p3_1000G_AFR_AF=0.1415;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=18808;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.4503;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233414341;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:348,33,0
chr2	232551268	rs11899983	T	C	1827.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11899983;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|TIGD1|TIGD1|transcript|NM_145702.2|protein_coding||c.-1386A>G|||||678|,C|upstream_gene_variant|MODIFIER|MIR5001|MIR5001|transcript|NR_049797.1|pseudogene||n.-695A>G|||||695|,C|downstream_gene_variant|MODIFIER|CHRNG|CHRNG|transcript|NM_005199.4|protein_coding||c.*5552T>C|||||4940|,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_004846.3|protein_coding|1/6|c.20+524T>C||||||,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276336.1|protein_coding|1/6|c.20+524T>C||||||,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276337.1|protein_coding|1/5|c.20+524T>C||||||,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001282958.1|protein_coding|1/7|c.20+524T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3067;p3_1000G_AF=0.61242;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=17842;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.6044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233415978;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1856,177,0
chr2	232556574	rs3830645;rs397740637	CT	C	1305.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=1.73;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3830645;dbSNPBuildID=132,138;ANN=C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_004846.3|protein_coding|2/6|c.135+48delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276336.1|protein_coding|2/6|c.135+48delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276337.1|protein_coding|2/5|c.135+48delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001282958.1|protein_coding|2/7|c.135+48delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TTTT|TTT|insertion;p3_1000G_AC=4083;p3_1000G_AF=0.815296;p3_1000G_AFR_AF=0.9153;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=23039;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.7396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233421284;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8589;p3_1000G_VT=INDEL;ESP6500_AA_AC=3760,504;ESP6500_AA_GTC=1672,416,44;ESP6500_CDS_SIZES=NM_004846.2:738;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=118;ESP6500_EA_AC=5940,2308;ESP6500_EA_GTC=2144,1652,328;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004846.2:intron;ESP6500_GL=EIF4E2;ESP6500_GRCh38_POSITION=2:232556574;ESP6500_GTC=3816,2068,372;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004846.2:c.135+45del1;ESP6500_MAF=27.9825,11.8199,22.4744;ESP6500_TAC=9700,2812	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1343,117,0
chr2	232564217	rs1656397	G	C	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.566;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=2.43;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.876;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1656397;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_004846.3|protein_coding|3/6|c.271-30G>C||||||,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276336.1|protein_coding|3/6|c.271-30G>C||||||,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276337.1|protein_coding|2/5|c.136-30G>C||||||,C|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001282958.1|protein_coding|3/7|c.271-30G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1636;p3_1000G_AF=0.326677;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=16671;p3_1000G_EAS_AF=0.2857;p3_1000G_EUR_AF=0.2674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233428927;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1677,2727;ESP6500_AA_GTC=339,999,864;ESP6500_CDS_SIZES=NM_004846.2:738;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=34;ESP6500_EA_AC=2134,6462;ESP6500_EA_GTC=274,1586,2438;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004846.2:intron;ESP6500_GL=EIF4E2;ESP6500_GRCh38_POSITION=2:232564217;ESP6500_GTC=613,2585,3302;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004846.2:c.271-30G>C;ESP6500_MAF=24.8255,38.079,29.3154;ESP6500_TAC=3811,9189	GT:AD:DP:GQ:PL	0/1:6,4:10:99:139,0,226
chr2	232564475	rs1656396	G	A	107.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.97;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1656396;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_004846.3|protein_coding|4/6|c.375+124G>A||||||,A|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276336.1|protein_coding|4/6|c.375+124G>A||||||,A|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001276337.1|protein_coding|3/5|c.240+124G>A||||||,A|intron_variant|MODIFIER|EIF4E2|EIF4E2|transcript|NM_001282958.1|protein_coding|4/7|c.375+124G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1636;p3_1000G_AF=0.326677;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.4236;p3_1000G_AN=5008;p3_1000G_DP=14140;p3_1000G_EAS_AF=0.2847;p3_1000G_EUR_AF=0.2674;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233429185;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0
chr2	232606133	rs7571133	G	A	885.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.662;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=3.855;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.138;SOR=1.362;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7571133;dbSNPBuildID=116;ANN=A|5_prime_UTR_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001243252.1|protein_coding|1/4|c.-27G>A|||||27|;p3_1000G_AA=A|||;p3_1000G_AC=2364;p3_1000G_AF=0.472045;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=14173;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.4791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233470843;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,35:58:99:914,0,570
chr2	232633959	rs2276557	G	T	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.825;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-1.068;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276557;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|EFHD1|EFHD1|transcript|NM_025202.3|protein_coding|1/4|c.255G>T|p.Pro85Pro|463/1990|255/720|85/239||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|EFHD1|EFHD1|transcript|NM_001308395.1|protein_coding|1/5|c.-161G>T||||||,T|5_prime_UTR_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001308395.1|protein_coding|1/5|c.-161G>T|||||28877|,T|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001243252.1|protein_coding|1/3|c.14+27786G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1213;p3_1000G_AF=0.242212;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=9824;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.1899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233498669;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=572,3778;ESP6500_AA_GTC=37,498,1640;ESP6500_CDS_SIZES=NM_025202.3:720,NM_001243252.1:432;ESP6500_CG=-3.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=18;ESP6500_EA_AC=1649,6885;ESP6500_EA_GTC=159,1331,2777;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025202.3:coding-synonymous,NM_001243252.1:intron;ESP6500_GL=EFHD1;ESP6500_GRCh38_POSITION=2:232633959;ESP6500_GTC=196,1829,4417;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_025202.3:c.255G>T,NM_001243252.1:c.14+27786G>T;ESP6500_HGVS_PROTEIN_VAR=NM_025202.3:p.(P85),.;ESP6500_MAF=19.3227,13.1494,17.2384;ESP6500_TAC=2221,10663	GT:AD:DP:GQ:PL	0/1:17,9:26:99:208,0,435
chr2	232634080	rs1107504	G	T	131.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.172;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.172;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1107504;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_025202.3|protein_coding|1/3|c.302+74G>T||||||,T|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001243252.1|protein_coding|1/3|c.14+27907G>T||||||,T|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001308395.1|protein_coding|1/4|c.-114+74G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1254;p3_1000G_AF=0.250399;p3_1000G_AFR_AF=0.4947;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=10474;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233498790;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.135;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:160,0,172
chr2	232638274	rs13029754	A	G	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.724;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=0.788;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13029754;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_025202.3|protein_coding|1/3|c.302+4268A>G||||||,G|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001243252.1|protein_coding|1/3|c.15-24528A>G||||||,G|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001308395.1|protein_coding|1/4|c.-113-132A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1589;p3_1000G_AF=0.317292;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.389;p3_1000G_AN=5008;p3_1000G_DP=18811;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.1789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233502984;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,15:19:64:398,0,64
chr2	232672216	rs11684420	T	C	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.16;ReadPosRankSum=-1.248;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11684420;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_025202.3|protein_coding|2/3|c.451-93T>C||||||,C|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001243252.1|protein_coding|2/3|c.163-93T>C||||||,C|intron_variant|MODIFIER|EFHD1|EFHD1|transcript|NM_001308395.1|protein_coding|3/4|c.115-93T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1732;p3_1000G_AF=0.345847;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=20065;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.3469;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233536926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3804;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,8:11:77:272,0,77
chr2	232672415	rs11550699	A	G	368.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.62;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.664;SOR=0.666;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11550699;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|EFHD1|EFHD1|transcript|NM_025202.3|protein_coding|3/4|c.557A>G|p.Lys186Arg|765/1990|557/720|186/239||,G|missense_variant|MODERATE|EFHD1|EFHD1|transcript|NM_001243252.1|protein_coding|3/4|c.269A>G|p.Lys90Arg|372/1597|269/432|90/143||,G|missense_variant|MODERATE|EFHD1|EFHD1|transcript|NM_001308395.1|protein_coding|4/5|c.221A>G|p.Lys74Arg|844/2069|221/384|74/127||;p3_1000G_AA=A|||;p3_1000G_AC=1735;p3_1000G_AF=0.346446;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=18935;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.3469;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233537125;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=810,3596;ESP6500_AA_AGE=324.8+/-298.8;ESP6500_AA_GTC=83,644,1476;ESP6500_CDS_SIZES=NM_025202.3:720,NM_001243252.1:432;ESP6500_CG=-0.4;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=130;ESP6500_EA_AC=3173,5427;ESP6500_EA_AGE=482.0+/-370.8;ESP6500_EA_GTC=597,1979,1724;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_025202.3:missense,NM_001243252.1:missense;ESP6500_GL=EFHD1;ESP6500_GRCh38_POSITION=2:232672415;ESP6500_GS=26,26;ESP6500_GTC=680,2623,3200;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_025202.3:c.557A>G,NM_001243252.1:c.269A>G;ESP6500_HGVS_PROTEIN_VAR=NM_025202.3:p.(K186R),NM_001243252.1:p.(K90R);ESP6500_MAF=36.8953,18.384,30.6243;ESP6500_PH=benign:0.021,benign:0.021;ESP6500_TAC=3983,9023	GT:AD:DP:GQ:PL	0/1:16,13:29:99:397,0,431
chr2	232776300	rs41266951	A	T	421.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.44;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs41266951;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|9/30|c.533-112A>T||||||,T|intron_variant|MODIFIER|KCNJ13|KCNJ13|transcript|NM_002242.4|protein_coding|1/2|c.-17+145T>A||||||,T|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|8/28|c.533-10850A>T||||||,T|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|7/27|c.533-10850A>T||||||,T|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|10/30|c.533-10850A>T||||||,T|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|7/26|n.646-10850A>T||||||,T|intron_variant|MODIFIER|KCNJ13|KCNJ13|transcript|NM_001172416.1|protein_coding|1/2|c.-17+145T>A||||||,T|intron_variant|MODIFIER|KCNJ13|KCNJ13|transcript|NM_001172417.1|protein_coding|1/2|c.-24+145T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=568;p3_1000G_AF=0.113419;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=15215;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233641010;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:450,39,0
chr2	232776373	rs737027	G	C	841.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.06;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs737027;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|9/30|c.533-39G>C||||||,C|intron_variant|MODIFIER|KCNJ13|KCNJ13|transcript|NM_002242.4|protein_coding|1/2|c.-17+72C>G||||||,C|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|8/28|c.533-10777G>C||||||,C|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|7/27|c.533-10777G>C||||||,C|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|10/30|c.533-10777G>C||||||,C|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|7/26|n.646-10777G>C||||||,C|intron_variant|MODIFIER|KCNJ13|KCNJ13|transcript|NM_001172416.1|protein_coding|1/2|c.-17+72C>G||||||,C|intron_variant|MODIFIER|KCNJ13|KCNJ13|transcript|NM_001172417.1|protein_coding|1/2|c.-24+72C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3441;p3_1000G_AF=0.687101;p3_1000G_AFR_AF=0.7663;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=16918;p3_1000G_EAS_AF=0.6468;p3_1000G_EUR_AF=0.5885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233641083;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2689,995;ESP6500_AA_GTC=986,717,139;ESP6500_CDS_SIZES=NM_015575.3:3900,NM_002242.4:1083,NM_001172417.1:843,NM_001172416.1:285,NM_001103148.1:3882,NM_001103147.1:3963,NM_001103146.1:3900;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=55;ESP6500_EA_AC=5170,3018;ESP6500_EA_GTC=1644,1882,568;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015575.3:intron,NM_002242.4:intron,NM_001172417.1:intron,NM_001172416.1:intron,NM_001103148.1:intron,NM_001103147.1:intron,NM_001103146.1:intron;ESP6500_GL=KCNJ13,GIGYF2;ESP6500_GRCh38_POSITION=2:232776373;ESP6500_GTC=2630,2599,707;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015575.3:c.533-10777G>C,NM_002242.4:c.-5011C>G,NM_001172417.1:c.-5251C>G,NM_001172416.1:c.-5011C>G,NM_001103148.1:c.533-10777G>C,NM_001103147.1:c.533-39G>C,NM_001103146.1:c.533-10777G>C;ESP6500_MAF=36.8588,27.0087,33.8022;ESP6500_TAC=7859,4013	GT:AD:DP:GQ:PL	1/1:0,28:28:84:870,84,0
chr2	232787027	rs10714136;rs397988243	AT	A	398.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.48;SOR=5.421;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10714136;dbSNPBuildID=131,138;ANN=A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|10/30|c.599-116delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|8/28|c.533-116delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|7/27|c.533-116delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|10/30|c.533-116delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|7/26|n.646-116delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTT|TTTTTTT|TTTTTT|insertion;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=17591;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233651737;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:42:436,42,0
chr2	232795994	rs2305139	T	G	561.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.05;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305139;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|15/30|c.1543-68T>G||||||,G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|13/28|c.1480-68T>G||||||,G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|12/27|c.1462-68T>G||||||,G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|15/30|c.1480-68T>G||||||,G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|12/26|n.1593-68T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=568;p3_1000G_AF=0.113419;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=20980;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233660704;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:590,51,0
chr2	232819692	rs2305141	A	G	178.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305141;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|22/30|c.2434-135A>G||||||,G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|20/28|c.2371-135A>G||||||,G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|19/27|c.2353-135A>G||||||,G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|22/30|c.2371-135A>G||||||,G|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|19/26|n.2484-135A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3198;p3_1000G_AF=0.638578;p3_1000G_AFR_AF=0.8064;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=18382;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233684402;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3405;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:207,18,0
chr2	232844096	rs3816334;518336	A	G	582.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.28;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816334;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|26/31|c.3003A>G|p.Gln1001Gln|3270/7947|3003/3963|1001/1320||,G|synonymous_variant|LOW|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|24/29|c.2940A>G|p.Gln980Gln|3137/7814|2940/3900|980/1299||,G|synonymous_variant|LOW|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|23/28|c.2922A>G|p.Gln974Gln|3053/7730|2922/3882|974/1293||,G|synonymous_variant|LOW|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|26/31|c.2940A>G|p.Gln980Gln|3277/7954|2940/3900|980/1299||,G|non_coding_transcript_exon_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|23/27|n.3053A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3207;p3_1000G_AF=0.640375;p3_1000G_AFR_AF=0.7595;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=16531;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233708806;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3241,1165;ESP6500_AA_AGE=396.7+/-330.2;ESP6500_AA_GTC=1195,851,157;ESP6500_CDS_SIZES=NM_015575.3:3900,NM_001103148.1:3882,NM_001103147.1:3963,NM_001103146.1:3900;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=44;ESP6500_EA_AC=5577,3021;ESP6500_EA_AGE=445.9+/-361.1;ESP6500_EA_GTC=1813,1951,535;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015575.3:coding-synonymous,NM_001103148.1:coding-synonymous,NM_001103147.1:coding-synonymous,NM_001103146.1:coding-synonymous;ESP6500_GL=GIGYF2;ESP6500_GRCh38_POSITION=2:232844096;ESP6500_GTC=3008,2802,692;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015575.3:c.2940A>G,NM_001103148.1:c.2922A>G,NM_001103147.1:c.3003A>G,NM_001103146.1:c.2940A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015575.3:p.(Q980),NM_001103148.1:p.(Q974),NM_001103147.1:p.(Q1001),NM_001103146.1:p.(Q980);ESP6500_MAF=35.1361,26.4412,32.1901;ESP6500_TAC=8818,4186;CLINVAR_ALLELEID=508777;CLINVAR_CLNDISDB=MedGen:C1843211,OMIM:607688;CLINVAR_CLNDN=Parkinson_disease_11;CLINVAR_CLNHGVS=NC_000002.12:g.232844096A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GIGYF2:26058;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3816334	GT:AD:DP:GQ:PL	1/1:0,17:17:51:611,51,0
chr2	232847277	rs12328140	G	A	780.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12328140;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|28/30|c.3524-71G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|26/28|c.3461-71G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|25/27|c.3443-71G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|28/30|c.3461-71G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|24/26|n.3419-71G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=567;p3_1000G_AF=0.113219;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=19527;p3_1000G_EAS_AF=0.1091;p3_1000G_EUR_AF=0.2406;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233711987;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:809,66,0
chr2	232847339	rs2305137;518337	G	A	1383.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.44;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305137;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|28/30|c.3524-9G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|26/28|c.3461-9G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|25/27|c.3443-9G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|28/30|c.3461-9G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|24/26|n.3419-9G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3031;p3_1000G_AF=0.605232;p3_1000G_AFR_AF=0.6301;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=19192;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.7127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233712049;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2762,1644;ESP6500_AA_AGE=502.4+/-365.2;ESP6500_AA_GTC=865,1032,306;ESP6500_CDS_SIZES=NM_015575.3:3900,NM_001103148.1:3882,NM_001103147.1:3963,NM_001103146.1:3900;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=88;ESP6500_EA_AC=5575,3025;ESP6500_EA_AGE=466.3+/-366.7;ESP6500_EA_GTC=1809,1957,534;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015575.3:intron,NM_001103148.1:intron,NM_001103147.1:intron,NM_001103146.1:intron;ESP6500_GL=GIGYF2;ESP6500_GRCh38_POSITION=2:232847339;ESP6500_GTC=2674,2989,840;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015575.3:c.3461-9G>A,NM_001103148.1:c.3443-9G>A,NM_001103147.1:c.3524-9G>A,NM_001103146.1:c.3461-9G>A;ESP6500_MAF=35.1744,37.3128,35.8988;ESP6500_TAC=8337,4669;CLINVAR_ALLELEID=508778;CLINVAR_CLNDISDB=MedGen:C1843211,OMIM:607688;CLINVAR_CLNDN=Parkinson_disease_11;CLINVAR_CLNHGVS=NC_000002.12:g.232847339G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GIGYF2:26058;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2305137	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1412,140,0
chr2	232847516	rs10555297;518338	CACA	C	3263.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.23;SOR=0.955;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10555297;dbSNPBuildID=130;ANN=C|disruptive_inframe_deletion|MODERATE|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|29/31|c.3693_3695delACA|p.Gln1232del|3960/7947|3693/3963|1231/1320||,C|disruptive_inframe_deletion|MODERATE|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|27/29|c.3630_3632delACA|p.Gln1211del|3827/7814|3630/3900|1210/1299||,C|disruptive_inframe_deletion|MODERATE|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|26/28|c.3612_3614delACA|p.Gln1205del|3743/7730|3612/3882|1204/1293||,C|disruptive_inframe_deletion|MODERATE|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|29/31|c.3630_3632delACA|p.Gln1211del|3967/7954|3630/3900|1210/1299||,C|non_coding_transcript_exon_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|25/27|n.3588_3590delACA||||||;p3_1000G_AC=2800;p3_1000G_AF=0.559105;p3_1000G_AFR_AF=0.6021;p3_1000G_AMR_AF=0.6138;p3_1000G_AN=5008;p3_1000G_DP=10978;p3_1000G_EAS_AF=0.6022;p3_1000G_EUR_AF=0.6302;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233712226;p3_1000G_GRCH37_REF=CACA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=508779;CLINVAR_CLNDISDB=MedGen:C1843211,OMIM:607688;CLINVAR_CLNDN=Parkinson_disease_11;CLINVAR_CLNHGVS=NC_000002.12:g.232847517_232847519delACA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=GIGYF2:26058;CLINVAR_ORIGIN=1;CLINVAR_RS=10555297	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,75:75:99:1|1:232847516_CACA_C:3301,229,0
chr2	232847538	rs12328151;518339	G	A	3385.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.27;SOR=1.236;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12328151;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|29/31|c.3714G>A|p.Pro1238Pro|3981/7947|3714/3963|1238/1320||,A|synonymous_variant|LOW|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|27/29|c.3651G>A|p.Pro1217Pro|3848/7814|3651/3900|1217/1299||,A|synonymous_variant|LOW|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|26/28|c.3633G>A|p.Pro1211Pro|3764/7730|3633/3882|1211/1293||,A|synonymous_variant|LOW|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|29/31|c.3651G>A|p.Pro1217Pro|3988/7954|3651/3900|1217/1299||,A|non_coding_transcript_exon_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|25/27|n.3609G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=570;p3_1000G_AF=0.113818;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=10793;p3_1000G_EAS_AF=0.1101;p3_1000G_EUR_AF=0.2406;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233712248;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=187,3537;ESP6500_AA_GTC=4,179,1679;ESP6500_CDS_SIZES=NM_015575.3:3900,NM_001103148.1:3882,NM_001103147.1:3963,NM_001103146.1:3900;ESP6500_CG=0.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=14;ESP6500_EA_AC=1554,6056;ESP6500_EA_GTC=157,1240,2408;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015575.3:coding-synonymous,NM_001103148.1:coding-synonymous,NM_001103147.1:coding-synonymous,NM_001103146.1:coding-synonymous;ESP6500_GL=GIGYF2;ESP6500_GRCh38_POSITION=2:232847538;ESP6500_GTC=161,1419,4087;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015575.3:c.3651G>A,NM_001103148.1:c.3633G>A,NM_001103147.1:c.3714G>A,NM_001103146.1:c.3651G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015575.3:p.(P1217),NM_001103148.1:p.(P1211),NM_001103147.1:p.(P1238),NM_001103146.1:p.(P1217);ESP6500_MAF=20.4205,5.0215,15.3609;ESP6500_TAC=1741,9593;CLINVAR_ALLELEID=508780;CLINVAR_CLNDISDB=MedGen:C1843211,OMIM:607688;CLINVAR_CLNDN=Parkinson_disease_11;CLINVAR_CLNHGVS=NC_000002.12:g.232847538G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GIGYF2:26058;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12328151	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,80:80:99:1|1:232847516_CACA_C:3414,244,0
chr2	232847586	rs6437074;518340	G	A	2122.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.76;SOR=1.211;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6437074;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|29/30|c.3747+15G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|27/28|c.3684+15G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|26/27|c.3666+15G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|29/30|c.3684+15G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|25/26|n.3642+15G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3205;p3_1000G_AF=0.639976;p3_1000G_AFR_AF=0.7572;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=17514;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.7137;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233712296;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3230,1132;ESP6500_AA_GTC=1206,818,157;ESP6500_CDS_SIZES=NM_015575.3:3900,NM_001103148.1:3882,NM_001103147.1:3963,NM_001103146.1:3900;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=25;ESP6500_EA_AC=5608,2966;ESP6500_EA_GTC=1850,1908,529;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015575.3:intron,NM_001103148.1:intron,NM_001103147.1:intron,NM_001103146.1:intron;ESP6500_GL=GIGYF2;ESP6500_GRCh38_POSITION=2:232847586;ESP6500_GTC=3056,2726,686;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015575.3:c.3684+15G>A,NM_001103148.1:c.3666+15G>A,NM_001103147.1:c.3747+15G>A,NM_001103146.1:c.3684+15G>A;ESP6500_MAF=34.593,25.9514,31.679;ESP6500_TAC=8838,4098;CLINVAR_ALLELEID=508781;CLINVAR_CLNDISDB=MedGen:C1843211,OMIM:607688;CLINVAR_CLNDN=Parkinson_disease_11;CLINVAR_CLNHGVS=NC_000002.12:g.232847586G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GIGYF2:26058;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6437074	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2151,206,0
chr2	232856745	rs1947105	G	A	1108.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1947105;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103147.1|protein_coding|30/30|c.3896-48G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103146.1|protein_coding|28/28|c.3833-48G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_001103148.1|protein_coding|27/27|c.3815-48G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NM_015575.3|protein_coding|30/30|c.3833-48G>A||||||,A|intron_variant|MODIFIER|GIGYF2|GIGYF2|transcript|NR_103492.1|pseudogene|26/26|n.3791-48G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3206;p3_1000G_AF=0.640176;p3_1000G_AFR_AF=0.761;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=20220;p3_1000G_EAS_AF=0.6448;p3_1000G_EUR_AF=0.7127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233721455;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3248,1158;ESP6500_AA_AGE=409.1+/-334.9;ESP6500_AA_GTC=1201,846,156;ESP6500_CDS_SIZES=NM_015575.3:3900,NM_001103148.1:3882,NM_001103147.1:3963,NM_001103146.1:3900;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=75;ESP6500_EA_AC=5592,3008;ESP6500_EA_AGE=464.9+/-366.4;ESP6500_EA_GTC=1819,1954,527;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015575.3:intron,NM_001103148.1:intron,NM_001103147.1:intron,NM_001103146.1:intron;ESP6500_GL=GIGYF2;ESP6500_GRCh38_POSITION=2:232856745;ESP6500_GTC=3020,2800,683;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015575.3:c.3833-48G>A,NM_001103148.1:c.3815-48G>A,NM_001103147.1:c.3896-48G>A,NM_001103146.1:c.3833-48G>A;ESP6500_MAF=34.9767,26.2823,32.0314;ESP6500_TAC=8840,4166	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1137,111,0
chr2	232875345	rs35523521;rs67272467;rs757774777	AAGAG	A	502.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=2.67;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67272467,rs35523521;dbSNPBuildID=126,144,130;ANN=A|downstream_gene_variant|MODIFIER|NGEF|NGEF|transcript|NM_019850.2|protein_coding||c.*4140_*4143delCTCT|||||3340|,A|downstream_gene_variant|MODIFIER|NGEF|NGEF|transcript|NM_001114090.1|protein_coding||c.*4140_*4143delCTCT|||||3340|,A|intron_variant|MODIFIER|C2orf82|C2orf82|transcript|NM_206895.1|protein_coding|1/2|c.74-583_74-580delGAGA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=743;p3_1000G_AF=0.148363;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=19697;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.2425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233740055;p3_1000G_GRCH37_REF=AAGAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:36:540,36,0
chr2	232875517	rs778338	A	G	693.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.69;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs778338;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|NGEF|NGEF|transcript|NM_019850.2|protein_coding||c.*3972T>C|||||3169|,G|downstream_gene_variant|MODIFIER|NGEF|NGEF|transcript|NM_001114090.1|protein_coding||c.*3972T>C|||||3169|,G|intron_variant|MODIFIER|C2orf82|C2orf82|transcript|NM_206895.1|protein_coding|1/2|c.74-423A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3119;p3_1000G_AF=0.622804;p3_1000G_AFR_AF=0.7859;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=16234;p3_1000G_EAS_AF=0.6419;p3_1000G_EUR_AF=0.6272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233740227;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:722,60,0
chr2	232879420	rs1223854619;rs577957548	GCCC	G	559.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.2;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67252740;dbSNPBuildID=151,142;ANN=G|3_prime_UTR_variant|MODIFIER|NGEF|NGEF|transcript|NM_019850.2|protein_coding|15/15|c.*66_*68delGGG|||||66|,G|3_prime_UTR_variant|MODIFIER|NGEF|NGEF|transcript|NM_001114090.1|protein_coding|13/13|c.*66_*68delGGG|||||66|,G|downstream_gene_variant|MODIFIER|C2orf82|C2orf82|transcript|NM_206895.1|protein_coding||c.*3065_*3067delCCC|||||3024|	GT:AD:DP:GQ:PL	1/1:0,14:14:42:597,42,0
chr2	232885364	rs2292725	C	T	1761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.88;SOR=0.725;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292725;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|NGEF|NGEF|transcript|NM_019850.2|protein_coding|10/15|c.1353G>A|p.Val451Val|1601/3184|1353/2133|451/710||,T|synonymous_variant|LOW|NGEF|NGEF|transcript|NM_001114090.1|protein_coding|8/13|c.1077G>A|p.Val359Val|1229/2812|1077/1857|359/618||;p3_1000G_AA=C|||;p3_1000G_AC=773;p3_1000G_AF=0.154353;p3_1000G_AFR_AF=0.1861;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=19749;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.2465;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233750074;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=803,3603;ESP6500_AA_AGE=322.9+/-297.8;ESP6500_AA_GTC=59,685,1459;ESP6500_CDS_SIZES=NM_019850.2:2133,NM_001114090.1:1857;ESP6500_CG=-2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=178;ESP6500_EA_AC=1937,6663;ESP6500_EA_AGE=342.6+/-324.5;ESP6500_EA_GTC=214,1509,2577;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019850.2:coding-synonymous,NM_001114090.1:coding-synonymous;ESP6500_GL=NGEF;ESP6500_GRCh38_POSITION=2:232885364;ESP6500_GTC=273,2194,4036;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_019850.2:c.1353G>A,NM_001114090.1:c.1077G>A;ESP6500_HGVS_PROTEIN_VAR=NM_019850.2:p.(V451),NM_001114090.1:p.(V359);ESP6500_MAF=22.5233,18.2251,21.0672;ESP6500_TAC=2740,10266	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1790,182,0
chr2	232885408	rs2292726	G	A	1532.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.28;SOR=1.345;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292726;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NGEF|NGEF|transcript|NM_019850.2|protein_coding|9/14|c.1348-39C>T||||||,A|intron_variant|MODIFIER|NGEF|NGEF|transcript|NM_001114090.1|protein_coding|7/12|c.1072-39C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1450;p3_1000G_AF=0.289537;p3_1000G_AFR_AF=0.3933;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=17707;p3_1000G_EAS_AF=0.2827;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233750118;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1558,2848;ESP6500_AA_AGE=668.3+/-402.0;ESP6500_AA_GTC=281,996,926;ESP6500_CDS_SIZES=NM_019850.2:2133,NM_001114090.1:1857;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=2411,6189;ESP6500_EA_AGE=699.4+/-405.1;ESP6500_EA_GTC=328,1755,2217;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019850.2:intron,NM_001114090.1:intron;ESP6500_GL=NGEF;ESP6500_GRCh38_POSITION=2:232885408;ESP6500_GTC=609,2751,3143;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019850.2:c.1348-39C>T,NM_001114090.1:c.1072-39C>T;ESP6500_MAF=28.0349,35.3609,30.5167;ESP6500_TAC=3969,9037	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1561,147,0
chr2	232887929	rs2250665	A	T	585.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2250665;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NGEF|NGEF|transcript|NM_019850.2|protein_coding|9/14|c.1347+104T>A||||||,T|intron_variant|MODIFIER|NGEF|NGEF|transcript|NM_001114090.1|protein_coding|7/12|c.1071+104T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2978;p3_1000G_AF=0.594649;p3_1000G_AFR_AF=0.6921;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=21552;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.6282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233752639;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:614,54,0
chr2	232892987	rs895432	A	G	2378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.59;SOR=0.898;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs895432;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|NGEF|NGEF|transcript|NM_019850.2|protein_coding|7/15|c.1053T>C|p.Ile351Ile|1301/3184|1053/2133|351/710||,G|synonymous_variant|LOW|NGEF|NGEF|transcript|NM_001114090.1|protein_coding|5/13|c.777T>C|p.Ile259Ile|929/2812|777/1857|259/618||;p3_1000G_AA=G|||;p3_1000G_AC=4715;p3_1000G_AF=0.941494;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.9496;p3_1000G_AN=5008;p3_1000G_DP=20681;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.9652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233757697;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4352,54;ESP6500_AA_AGE=52.9+/-88.7;ESP6500_AA_GTC=2149,54,0;ESP6500_CDS_SIZES=NM_019850.2:2133,NM_001114090.1:1857;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=169;ESP6500_EA_AC=8226,374;ESP6500_EA_AGE=123.1+/-182.0;ESP6500_EA_GTC=3938,350,12;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019850.2:coding-synonymous,NM_001114090.1:coding-synonymous;ESP6500_GL=NGEF;ESP6500_GRCh38_POSITION=2:232892987;ESP6500_GTC=6087,404,12;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019850.2:c.1053T>C,NM_001114090.1:c.777T>C;ESP6500_HGVS_PROTEIN_VAR=NM_019850.2:p.(I351),NM_001114090.1:p.(I259);ESP6500_MAF=4.3488,1.2256,3.2908;ESP6500_TAC=12578,428	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2407,219,0
chr2	232920305	rs778354	G	A	1188.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.72;SOR=0.793;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs778354;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|NGEF|NGEF|transcript|NM_019850.2|protein_coding|5/15|c.807C>T|p.Pro269Pro|1055/3184|807/2133|269/710||,A|synonymous_variant|LOW|NGEF|NGEF|transcript|NM_001114090.1|protein_coding|3/13|c.531C>T|p.Pro177Pro|683/2812|531/1857|177/618||;p3_1000G_AA=G|||;p3_1000G_AC=3592;p3_1000G_AF=0.717252;p3_1000G_AFR_AF=0.8359;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=16171;p3_1000G_EAS_AF=0.5625;p3_1000G_EUR_AF=0.7565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233785015;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3710,696;ESP6500_AA_AGE=759.1+/-412.9;ESP6500_AA_GTC=1555,600,48;ESP6500_CDS_SIZES=NM_019850.2:2133,NM_001114090.1:1857;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=51;ESP6500_EA_AC=6584,2016;ESP6500_EA_AGE=719.9+/-406.3;ESP6500_EA_GTC=2552,1480,268;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019850.2:coding-synonymous,NM_001114090.1:coding-synonymous;ESP6500_GL=NGEF;ESP6500_GRCh38_POSITION=2:232920305;ESP6500_GTC=4107,2080,316;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_019850.2:c.807C>T,NM_001114090.1:c.531C>T;ESP6500_HGVS_PROTEIN_VAR=NM_019850.2:p.(P269),NM_001114090.1:p.(P177);ESP6500_MAF=23.4419,15.7966,20.8519;ESP6500_TAC=10294,2712	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,40:40:99:1|1:232920302_C_A:1217,120,0
chr2	232970075	rs4973587	A	T	38.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4973587;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|NGEF|NGEF|transcript|NM_019850.2|protein_coding|3/14|c.383+139T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3454;p3_1000G_AF=0.689696;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=15737;p3_1000G_EAS_AF=0.8185;p3_1000G_EUR_AF=0.4891;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233834785;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:27:67,0,27
chr2	232970265	rs4973588	A	G	988.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.47;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4973588;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|NGEF|NGEF|transcript|NM_019850.2|protein_coding|3/15|c.332T>C|p.Met111Thr|580/3184|332/2133|111/710||;p3_1000G_AA=a|||;p3_1000G_AC=4219;p3_1000G_AF=0.842452;p3_1000G_AFR_AF=0.9312;p3_1000G_AMR_AF=0.8963;p3_1000G_AN=5008;p3_1000G_DP=17079;p3_1000G_EAS_AF=0.8433;p3_1000G_EUR_AF=0.8459;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233834975;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4038,368;ESP6500_AA_AGE=792.8+/-415.2;ESP6500_AA_GTC=1856,326,21;ESP6500_CDS_SIZES=NM_019850.2:2133;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=156;ESP6500_EA_AC=7272,1328;ESP6500_EA_AGE=757.6+/-407.5;ESP6500_EA_GTC=3079,1114,107;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_019850.2:missense;ESP6500_GL=NGEF;ESP6500_GRCh38_POSITION=2:232970265;ESP6500_GS=81;ESP6500_GTC=4935,1440,128;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_019850.2:c.332T>C;ESP6500_HGVS_PROTEIN_VAR=NM_019850.2:p.(M111T);ESP6500_MAF=15.4419,8.3522,13.0401;ESP6500_PH=benign:0.0;ESP6500_TAC=11310,1696	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1017,108,0
chr2	233034416	rs2233391	C	A	1001.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.441;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0.755;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.601;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2233391;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|NEU2|NEU2|transcript|NM_005383.2|protein_coding|2/2|c.502C>A|p.His168Asn|502/1143|502/1143|168/380||;p3_1000G_AA=C|||;p3_1000G_AC=1162;p3_1000G_AF=0.232029;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=16182;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0.502;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233899126;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2065;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=941,3465;ESP6500_AA_AGE=354.1+/-312.5;ESP6500_AA_GTC=111,719,1373;ESP6500_CDS_SIZES=NM_005383.2:1143;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=56;ESP6500_EA_AC=4110,4490;ESP6500_EA_AGE=560.1+/-387.5;ESP6500_EA_GTC=960,2190,1150;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005383.2:missense;ESP6500_GL=NEU2;ESP6500_GRCh38_POSITION=2:233034416;ESP6500_GS=68;ESP6500_GTC=1071,2909,2523;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005383.2:c.502C>A;ESP6500_HGVS_PROTEIN_VAR=NM_005383.2:p.(H168N);ESP6500_MAF=47.7907,21.3572,38.8359;ESP6500_PH=benign:0.037;ESP6500_TAC=5051,7955	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1030,0,1476
chr2	233060456	rs1141328	G	A	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.038;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=3.1;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1141328;dbSNPBuildID=86;ANN=A|5_prime_UTR_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|1/27|c.-23G>A|||||23|,A|5_prime_UTR_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|1/27|c.-23G>A|||||23|;p3_1000G_AA=G|||;p3_1000G_AC=2049;p3_1000G_AF=0.409145;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=15116;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.4374;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233925166;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.407;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=894,2980;ESP6500_AA_GTC=116,662,1159;ESP6500_CDS_SIZES=NM_005541.3:696,NM_001017915.1:699;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=12;ESP6500_EA_AC=3692,4550;ESP6500_EA_GTC=845,2002,1274;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3:utr-5,NM_001017915.1:utr-5;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233060456;ESP6500_GTC=961,2664,2433;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005541.3:c.-23G>A,NM_001017915.1:c.-23G>A;ESP6500_MAF=44.795,23.0769,37.8508;ESP6500_TAC=4586,7530	GT:AD:DP:GQ:PL	0/1:11,7:18:99:174,0,313
chr2	233060696	rs34218488	T	G	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.892;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.502;SOR=0.084;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34218488;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|1/26|c.134+84T>G||||||,G|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|1/26|c.134+84T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2036;p3_1000G_AF=0.40655;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=20508;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.4394;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=233925406;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.408;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,5:14:99:131,0,256
chr2	233146343	rs36180605	T	G	2500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=80;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=0.968;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs36180605;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|7/26|c.835-24T>G||||||,G|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|7/26|c.832-24T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2925;p3_1000G_AF=0.584065;p3_1000G_AFR_AF=0.6505;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=17956;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.4841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234054989;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=842,542;ESP6500_AA_GTC=260,322,110;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=63;ESP6500_EA_AC=1434,1748;ESP6500_EA_GTC=328,778,485;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:intron,NM_001017915.1.dup:intron;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233146343;ESP6500_GTC=588,1100,595;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.95-24T>G,NM_001017915.1.dup:c.95-24T>G;ESP6500_MAF=45.066,39.1618,49.8467;ESP6500_TAC=2276,2290	GT:AD:DP:GQ:PL	1/1:0,80:80:99:2529,240,0
chr2	233146358	rs36189208	T	C	2262.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=74;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.58;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs36189208;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|7/26|c.835-9T>C||||||,C|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|7/26|c.832-9T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3542;p3_1000G_AF=0.707268;p3_1000G_AFR_AF=0.6815;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=18371;p3_1000G_EAS_AF=0.9524;p3_1000G_EUR_AF=0.5129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234055004;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=905,479;ESP6500_AA_GTC=302,301,89;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=62;ESP6500_EA_AC=1549,1633;ESP6500_EA_GTC=376,797,418;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:intron,NM_001017915.1.dup:intron;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233146358;ESP6500_GTC=678,1098,507;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.95-9T>C,NM_001017915.1.dup:c.95-9T>C;ESP6500_MAF=48.6801,34.6098,46.2549;ESP6500_TAC=2454,2112	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2291,222,0
chr2	233147445	rs149513640	C	G	1088.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs149513640;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|8/26|c.907-26C>G||||||,G|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|8/26|c.904-26C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=797;p3_1000G_AF=0.159145;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.0576;p3_1000G_AN=5008;p3_1000G_DP=20270;p3_1000G_EAS_AF=0.3224;p3_1000G_EUR_AF=0.0656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234056091;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=261,1123;ESP6500_AA_GTC=16,229,447;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=47;ESP6500_EA_AC=151,3031;ESP6500_EA_GTC=1,149,1441;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:intron,NM_001017915.1.dup:intron;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233147445;ESP6500_GTC=17,378,1888;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.167-26C>G,NM_001017915.1.dup:c.167-26C>G;ESP6500_MAF=4.7454,18.8584,9.0232;ESP6500_TAC=412,4154	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1117,93,0
chr2	233158323	rs36127492	C	G	1159.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.52;SOR=0.798;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs36127492;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|10/27|c.1041C>G|p.Leu347Leu|1553/5277|1041/3570|347/1189||,G|synonymous_variant|LOW|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|10/27|c.1038C>G|p.Leu346Leu|1550/5274|1038/3567|346/1188||;p3_1000G_AA=C|||;p3_1000G_AC=3750;p3_1000G_AF=0.748802;p3_1000G_AFR_AF=0.7943;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=22610;p3_1000G_EAS_AF=0.9831;p3_1000G_EUR_AF=0.5318;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234066969;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1043,341;ESP6500_AA_GTC=401,241,50;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=173;ESP6500_EA_AC=1559,1623;ESP6500_EA_GTC=380,799,412;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005541.3.dup:coding-notMod3,NM_001017915.1.dup:coding-notMod3;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233158323;ESP6500_GTC=781,1040,462;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.301C>G,NM_001017915.1.dup:c.301C>G;ESP6500_MAF=48.9943,24.6387,43.0136;ESP6500_TAC=2602,1964	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1188,114,0
chr2	233161941	rs28751960	A	T	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.401;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=1.65;SOR=1.302;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28751960;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|11/26|c.1240+115A>T||||||,T|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|11/26|c.1237+115A>T||||||;p3_1000G_AA=a|||;p3_1000G_AC=1926;p3_1000G_AF=0.384585;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.4135;p3_1000G_AN=5008;p3_1000G_DP=15974;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234070587;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:210,0,347
chr2	233163980	rs141642539	T	C	326.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.68;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs141642539;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|12/26|c.1437+77T>C||||||,C|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|12/26|c.1434+77T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=4916;p3_1000G_AF=0.981629;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17157;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234072626;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:355,30,0
chr2	233182512	rs4571051	T	C	2899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.95;SOR=1.116;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4571051;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|19/26|c.2161+13T>C||||||,C|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|19/26|c.2158+13T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4158;p3_1000G_AF=0.830272;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=21992;p3_1000G_EAS_AF=0.9683;p3_1000G_EUR_AF=0.6451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234091158;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7883;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3729,397;ESP6500_AA_GTC=1687,355,21;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=124;ESP6500_EA_AC=5220,3180;ESP6500_EA_GTC=1648,1924,628;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:intron,NM_001017915.1.dup:intron;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233182512;ESP6500_GTC=3335,2279,649;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.1421+13T>C,NM_001017915.1.dup:c.1421+13T>C;ESP6500_MAF=37.8571,9.6219,28.5566;ESP6500_TAC=8949,3577	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2928,264,0
chr2	233184389	rs6740918	G	A	634.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.114;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.695;SOR=0.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6740918;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|19/26|c.2162-19G>A||||||,A|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|19/26|c.2159-19G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1261;p3_1000G_AF=0.251797;p3_1000G_AFR_AF=0.2799;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=20956;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.1958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234093035;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1055,2927;ESP6500_AA_GTC=134,787,1070;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=1442,6904;ESP6500_EA_GTC=115,1212,2846;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:intron,NM_001017915.1.dup:intron;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233184389;ESP6500_GTC=249,1999,3916;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.1422-19G>A,NM_001017915.1.dup:c.1422-19G>A;ESP6500_MAF=17.2777,26.4942,20.2547;ESP6500_TAC=2497,9831	GT:AD:DP:GQ:PL	0/1:38,29:67:99:663,0,1010
chr2	233195383	rs6706611	G	A	1272.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6706611;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|23/26|c.2597-16G>A||||||,A|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|23/26|c.2594-16G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1385;p3_1000G_AF=0.276558;p3_1000G_AFR_AF=0.1906;p3_1000G_AMR_AF=0.3631;p3_1000G_AN=5008;p3_1000G_DP=17336;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234104029;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=771,3149;ESP6500_AA_GTC=78,615,1267;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=61;ESP6500_EA_AC=1853,6461;ESP6500_EA_GTC=213,1427,2517;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:intron,NM_001017915.1.dup:intron;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233195383;ESP6500_GTC=291,2042,3784;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.1857-16G>A,NM_001017915.1.dup:c.1857-16G>A;ESP6500_MAF=22.2877,19.6684,21.4484;ESP6500_TAC=2624,9610	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1301,135,0
chr2	233195574	rs369804739	C	T	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.809;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.444;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369804739;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|24/26|c.2693+79C>T||||||,T|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|24/26|c.2690+79C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=16;p3_1000G_AF=0.00319489;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16510;p3_1000G_EAS_AF=0.0159;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234104220;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:219,0,217
chr2	233198424	rs7569827	G	A	495.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=1.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7569827;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|25/26|c.2975+48G>A||||||,A|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|25/26|c.2972+48G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3861;p3_1000G_AF=0.770966;p3_1000G_AFR_AF=0.8457;p3_1000G_AMR_AF=0.7622;p3_1000G_AN=5008;p3_1000G_DP=15627;p3_1000G_EAS_AF=0.7976;p3_1000G_EUR_AF=0.6541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234107070;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7689;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3144,676;ESP6500_AA_GTC=1286,572,52;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=21;ESP6500_EA_AC=5137,3123;ESP6500_EA_GTC=1593,1951,586;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:intron,NM_001017915.1.dup:intron;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233198424;ESP6500_GTC=2879,2523,638;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.2235+48G>A,NM_001017915.1.dup:c.2235+48G>A;ESP6500_MAF=37.8087,17.6963,31.4487;ESP6500_TAC=8281,3799	GT:AD:DP:GQ:PL	1/1:0,17:17:51:524,51,0
chr2	233204411	rs7346	G	A	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.947;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.402;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7346;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|26/27|c.3261G>A|p.Thr1087Thr|3773/5277|3261/3570|1087/1189||,A|synonymous_variant|LOW|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|26/27|c.3258G>A|p.Thr1086Thr|3770/5274|3258/3567|1086/1188||;p3_1000G_AA=G|||;p3_1000G_AC=1191;p3_1000G_AF=0.237819;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=13448;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.1948;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234113057;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2393;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=675,3057;ESP6500_AA_GTC=53,569,1244;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=1.3;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=10;ESP6500_EA_AC=1384,6724;ESP6500_EA_GTC=126,1132,2796;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:coding-notMod3,NM_001017915.1.dup:coding-notMod3;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233204411;ESP6500_GTC=179,1701,4040;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.2521G>A,NM_001017915.1.dup:c.2521G>A;ESP6500_MAF=17.0696,18.0868,17.3902;ESP6500_TAC=2059,9781	GT:AD:DP:GQ:PL	0/1:18,17:35:99:395,0,475
chr2	233204655	rs9247	C	T	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.768;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.154;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9247;dbSNPBuildID=52;ANN=T|missense_variant|MODERATE|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|26/27|c.3505C>T|p.His1169Tyr|4017/5277|3505/3570|1169/1189||,T|missense_variant|MODERATE|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|26/27|c.3502C>T|p.His1168Tyr|4014/5274|3502/3567|1168/1188||;p3_1000G_AA=C|||;p3_1000G_AC=1202;p3_1000G_AF=0.240016;p3_1000G_AFR_AF=0.1936;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=16349;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.1968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234113301;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=582,3196;ESP6500_AA_GTC=29,524,1336;ESP6500_CDS_SIZES=NM_005541.3.dup:2830,NM_001017915.1.dup:2830;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=5;ESP6500_EA_AC=1188,6648;ESP6500_EA_GTC=75,1038,2805;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005541.3.dup:coding-notMod3,NM_001017915.1.dup:coding-notMod3;ESP6500_GL=INPP5D;ESP6500_GRCh38_POSITION=2:233204655;ESP6500_GTC=104,1562,4141;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005541.3.dup:c.2765C>T,NM_001017915.1.dup:c.2765C>T;ESP6500_MAF=15.1608,15.405,15.2402;ESP6500_TAC=1770,9844	GT:AD:DP:GQ:PL	0/1:24,23:47:99:571,0,739
chr2	233204775	rs70958391	C	CGTATGTGT	421.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.956;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.996;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs70958391;dbSNPBuildID=130;ANN=CGTATGTGT|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_001017915.2|protein_coding|26/26|c.3567+62_3567+69dupTGTGTGTA||||||INFO_REALIGN_3_PRIME,CGTATGTGT|intron_variant|MODIFIER|INPP5D|INPP5D|transcript|NM_005541.4|protein_coding|26/26|c.3564+62_3564+69dupTGTGTGTA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:14,13:27:99:459,0,1319
chr2	233269978	rs35705047	CT	C	22.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.189;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=0.189;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35705047;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_030803.6|protein_coding|5/17|c.642-9delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_001190266.1|protein_coding|5/17|c.390-9delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_001190267.1|protein_coding|5/17|c.294-9delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_017974.3|protein_coding|5/16|c.642-9delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_198890.2|protein_coding|2/13|c.210-9delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,3:6:56:60,0,56
chr2	233272947	rs2289475	G	C	925.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.776;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=-0.289;SOR=0.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289475;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|SCARNA5|SCARNA5|transcript|NR_003008.2|pseudogene||n.-2779G>C|||||2779|,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_030803.6|protein_coding|6/17|c.708-19G>C||||||,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_001190266.1|protein_coding|6/17|c.456-19G>C||||||,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_001190267.1|protein_coding|6/17|c.360-19G>C||||||,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_017974.3|protein_coding|6/16|c.708-19G>C||||||,C|intron_variant|MODIFIER|ATG16L1|ATG16L1|transcript|NM_198890.2|protein_coding|3/13|c.276-19G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3185;p3_1000G_AF=0.635982;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=21076;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.7018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234181593;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7791;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2997,1409;ESP6500_AA_AGE=460.3+/-352.6;ESP6500_AA_GTC=1019,959,225;ESP6500_CDS_SIZES=NM_198890.2:1335,NM_030803.6:1824,NM_017974.3:1767,NM_001190267.1:1476,NM_001190266.1:1572;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=6188,2412;ESP6500_EA_AGE=401.6+/-347.2;ESP6500_EA_GTC=2242,1704,354;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198890.2:intron,NM_030803.6:intron,NM_017974.3:intron,NM_001190267.1:intron,NM_001190266.1:intron;ESP6500_GL=ATG16L1;ESP6500_GRCh38_POSITION=2:233272947;ESP6500_GTC=3261,2663,579;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_198890.2:c.276-19G>C,NM_030803.6:c.708-19G>C,NM_017974.3:c.708-19G>C,NM_001190267.1:c.360-19G>C,NM_001190266.1:c.456-19G>C;ESP6500_MAF=28.0465,31.9791,29.3787;ESP6500_TAC=9185,3821	GT:AD:DP:GQ:PL	0/1:25,35:60:99:954,0,714
chr2	233315991	rs112149360	C	T	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.782;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.135;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112149360;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|SAG|SAG|transcript|NM_000541.4|protein_coding|2/15|c.76-84C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=230;p3_1000G_AF=0.0459265;p3_1000G_AFR_AF=0.1104;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=13463;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0.0398;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234224637;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0153;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:223,0,252
chr2	233318877	rs2304777	A	G	623.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.214;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=3.765;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.432;SOR=0.436;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304777;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SAG|SAG|transcript|NM_000541.4|protein_coding|4/15|c.181+82A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3535;p3_1000G_AF=0.705871;p3_1000G_AFR_AF=0.8601;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=16163;p3_1000G_EAS_AF=0.5169;p3_1000G_EUR_AF=0.7247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234227523;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,27:56:99:652,0,709
chr2	233327174	rs2304773;335069	C	T	676.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.368;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.743;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.867;SOR=1.255;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304773;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|SAG|SAG|transcript|NM_000541.4|protein_coding|7/16|c.489C>T|p.Ala163Ala|877/1749|489/1218|163/405||;p3_1000G_AA=C|||;p3_1000G_AC=532;p3_1000G_AF=0.10623;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=19748;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0.1004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234235820;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=745,3379;ESP6500_AA_GTC=70,605,1387;ESP6500_CDS_SIZES=NM_000541.4:1218;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=129;ESP6500_EA_AC=874,7518;ESP6500_EA_GTC=42,790,3364;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000541.4:coding-synonymous;ESP6500_GL=SAG;ESP6500_GRCh38_POSITION=2:233327174;ESP6500_GTC=112,1395,4751;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000541.4:c.489C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000541.4:p.(A163);ESP6500_MAF=10.4147,18.065,12.9354;ESP6500_TAC=1619,10897;CLINVAR_AF_ESP=0.1294;CLINVAR_AF_EXAC=0.10147;CLINVAR_AF_TGP=0.1062;CLINVAR_ALLELEID=288347;CLINVAR_CLNDISDB=MedGen:C1306122,OMIM:258100,SNOMED_CT:193687000|MedGen:CN239466;CLINVAR_CLNDN=Oguchi's_disease|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.233327174C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:70626;CLINVAR_GENEINFO=SAG:6295;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2304773	GT:AD:DP:GQ:PL	0/1:26,29:55:99:705,0,616
chr2	233329608	rs745498	T	G	570.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.375;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.005;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0;SOR=0.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs745498;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SAG|SAG|transcript|NM_000541.4|protein_coding|9/15|c.733+31T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3553;p3_1000G_AF=0.709465;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=19359;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.7237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234238254;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7689;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3144,592;ESP6500_AA_GTC=1329,486,53;ESP6500_CDS_SIZES=NM_000541.4:1218;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=46;ESP6500_EA_AC=5913,2299;ESP6500_EA_GTC=2135,1643,328;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000541.4:intron;ESP6500_GL=SAG;ESP6500_GRCh38_POSITION=2:233329608;ESP6500_GTC=3464,2129,381;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_000541.4:c.733+31T>G;ESP6500_MAF=27.9956,15.8458,24.1965;ESP6500_TAC=9057,2891	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,21:36:99:0|1:233329604_G_A:599,0,372
chr2	233338862	rs13427703	C	G	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.712;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=-0.366;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13427703;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SAG|SAG|transcript|NM_000541.4|protein_coding|12/15|c.1022+109C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=566;p3_1000G_AF=0.113019;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=20983;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0.1153;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234247508;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:95:215,0,95
chr2	233346919	rs692;335075	C	T	1478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.205;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=3.571;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.362;SOR=1.079;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs692;dbSNPBuildID=36;ANN=T|3_prime_UTR_variant|MODIFIER|SAG|SAG|transcript|NM_000541.4|protein_coding|16/16|c.*7C>T|||||7|;p3_1000G_AA=C|||;p3_1000G_AC=89;p3_1000G_AF=0.0177716;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0692;p3_1000G_AN=5008;p3_1000G_DP=20642;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234255565;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0092;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=16,4012;ESP6500_AA_GTC=0,16,1998;ESP6500_CDS_SIZES=NM_000541.4:1218;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=84;ESP6500_EA_AC=104,8258;ESP6500_EA_GTC=0,104,4077;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000541.4:utr-3;ESP6500_GL=SAG;ESP6500_GRCh38_POSITION=2:233346919;ESP6500_GTC=0,120,6075;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000541.4:c.*7C>T;ESP6500_MAF=1.2437,0.3972,0.9685;ESP6500_TAC=120,12270;CLINVAR_AF_ESP=0.0097;CLINVAR_AF_EXAC=0.03235;CLINVAR_AF_TGP=0.0178;CLINVAR_ALLELEID=285384;CLINVAR_CLNDISDB=MedGen:C1306122,OMIM:258100,SNOMED_CT:193687000|MedGen:CN239466;CLINVAR_CLNDN=Oguchi's_disease|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.233346919C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28509;CLINVAR_GENEINFO=SAG:6295;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=692	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1507,0,1258
chr2	233347001	rs78338185;335076	C	T	724.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.654;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=1.05;SOR=0.733;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78338185;dbSNPBuildID=132;ANN=T|3_prime_UTR_variant|MODIFIER|SAG|SAG|transcript|NM_000541.4|protein_coding|16/16|c.*89C>T|||||89|;p3_1000G_AA=C|||;p3_1000G_AC=105;p3_1000G_AF=0.0209665;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=21023;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0.0298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234255647;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.0210;CLINVAR_ALLELEID=285386;CLINVAR_CLNDISDB=MedGen:C1306122,OMIM:258100,SNOMED_CT:193687000|MedGen:CN239466;CLINVAR_CLNDN=Oguchi's_disease|Retinitis_Pigmentosa,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.233347001C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:54323;CLINVAR_GENEINFO=SAG:6295;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=78338185	GT:AD:DP:GQ:PL	0/1:26,27:53:99:753,0,744
chr2	233385915	rs3075537	T	TTC	866.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.26;SOR=1.23;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3075537;dbSNPBuildID=102;ANN=TTC|upstream_gene_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding||c.-2318_-2317insTC|||||2238|,TTC|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|1/29|c.157-2341_157-2340insCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4449;p3_1000G_AF=0.888379;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=16309;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234294561;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,21:21:63:904,63,0
chr2	233438398	rs59458664	A	G	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.11;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.22;ReadPosRankSum=0.17;SOR=0.425;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59458664;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|9/29|c.1085+19A>G||||||,G|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding|8/28|c.953+19A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=719;p3_1000G_AF=0.14357;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.0504;p3_1000G_AN=5008;p3_1000G_DP=17821;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0.0785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234347044;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1021,3383;ESP6500_AA_AGE=358.1+/-314.2;ESP6500_AA_GTC=106,809,1287;ESP6500_CDS_SIZES=NM_152879.2:3645,NM_003648.2:3513;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=44;ESP6500_EA_AC=624,7976;ESP6500_EA_AGE=160.3+/-213.4;ESP6500_EA_GTC=18,588,3694;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152879.2:intron,NM_003648.2:intron;ESP6500_GL=DGKD;ESP6500_GRCh38_POSITION=2:233438398;ESP6500_GTC=124,1397,4981;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152879.2:c.1085+19A>G,NM_003648.2:c.953+19A>G;ESP6500_MAF=7.2558,23.1835,12.65;ESP6500_TAC=1645,11359	GT:AD:DP:GQ:PL	0/1:13,4:17:99:117,0,400
chr2	233438445	rs3214826;rs796122265	TA	T	23.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.068;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-0.992;SOR=0.061;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3214826;dbSNPBuildID=106,146;ANN=T|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|9/29|c.1085+77delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding|8/28|c.953+77delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1754;p3_1000G_AF=0.35024;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=17915;p3_1000G_EAS_AF=0.2063;p3_1000G_EUR_AF=0.1938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234347091;p3_1000G_GRCH37_REF=TA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,3:8:61:61,0,116
chr2	233445599	rs2305542	G	A	645.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.048;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.669;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-0.661;SOR=0.364;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305542;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|10/29|c.1195-24G>A||||||,A|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding|9/28|c.1063-24G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1618;p3_1000G_AF=0.323083;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=19020;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.1819;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234354245;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2638;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2560,1846;ESP6500_AA_AGE=527.4+/-372.1;ESP6500_AA_GTC=767,1026,410;ESP6500_CDS_SIZES=NM_152879.2:3645,NM_003648.2:3513;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=1439,7161;ESP6500_EA_AGE=748.5+/-407.3;ESP6500_EA_GTC=121,1197,2982;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152879.2:intron,NM_003648.2:intron;ESP6500_GL=DGKD;ESP6500_GRCh38_POSITION=2:233445599;ESP6500_GTC=888,2223,3392;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152879.2:c.1195-24G>A,NM_003648.2:c.1063-24G>A;ESP6500_MAF=16.7326,41.8974,30.7473;ESP6500_TAC=3999,9007	GT:AD:DP:GQ:PL	0/1:8,26:34:99:674,0,144
chr2	233445674	rs2305541	C	T	1047.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.611;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=0.793;SOR=0.843;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305541;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|DGKD|DGKD|transcript|NM_152879.2|protein_coding|11/30|c.1246C>T|p.Leu416Leu|1258/6294|1246/3645|416/1214||,T|synonymous_variant|LOW|DGKD|DGKD|transcript|NM_003648.2|protein_coding|10/29|c.1114C>T|p.Leu372Leu|1193/6229|1114/3513|372/1170||;p3_1000G_AA=C|||;p3_1000G_AC=562;p3_1000G_AF=0.11222;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.0461;p3_1000G_AN=5008;p3_1000G_DP=18184;p3_1000G_EAS_AF=0.1121;p3_1000G_EUR_AF=0.0775;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234354320;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=684,3722;ESP6500_AA_AGE=288.4+/-279.8;ESP6500_AA_GTC=50,584,1569;ESP6500_CDS_SIZES=NM_152879.2:3645,NM_003648.2:3513;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=71;ESP6500_EA_AC=618,7982;ESP6500_EA_AGE=161.7+/-214.6;ESP6500_EA_GTC=18,582,3700;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152879.2:coding-synonymous,NM_003648.2:coding-synonymous;ESP6500_GL=DGKD;ESP6500_GRCh38_POSITION=2:233445674;ESP6500_GTC=68,1166,5269;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152879.2:c.1246C>T,NM_003648.2:c.1114C>T;ESP6500_HGVS_PROTEIN_VAR=NM_152879.2:p.(L416),NM_003648.2:p.(L372);ESP6500_MAF=7.186,15.5243,10.0108;ESP6500_TAC=1302,11704	GT:AD:DP:GQ:PL	0/1:20,41:61:99:1076,0,483
chr2	233451128	rs73117559	C	A	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=0.253;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73117559;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|17/29|c.2167+78C>A||||||,A|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding|16/28|c.2035+78C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=568;p3_1000G_AF=0.113419;p3_1000G_AFR_AF=0.1679;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=15337;p3_1000G_EAS_AF=0.1052;p3_1000G_EUR_AF=0.0984;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234359774;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,104
chr2	233458466	rs28588417	G	A	515.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.004;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.679;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.84;ReadPosRankSum=-0.106;SOR=0.249;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28588417;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|22/29|c.2694+69G>A||||||,A|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding|21/28|c.2562+69G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=522;p3_1000G_AF=0.104233;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=13442;p3_1000G_EAS_AF=0.1111;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234367112;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,19:26:99:544,0,218
chr2	233460175	rs2290464	T	C	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.81;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=0.161;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290464;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|23/29|c.2830-19T>C||||||,C|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding|22/28|c.2698-19T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1787;p3_1000G_AF=0.356829;p3_1000G_AFR_AF=0.7481;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=18022;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.1968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234368821;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2784,1622;ESP6500_AA_AGE=501.2+/-364.9;ESP6500_AA_GTC=887,1010,306;ESP6500_CDS_SIZES=NM_152879.2:3645,NM_003648.2:3513;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=70;ESP6500_EA_AC=1550,7050;ESP6500_EA_AGE=745.7+/-407.3;ESP6500_EA_GTC=140,1270,2890;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152879.2:intron,NM_003648.2:intron;ESP6500_GL=DGKD;ESP6500_GRCh38_POSITION=2:233460175;ESP6500_GTC=1027,2280,3196;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152879.2:c.2830-19T>C,NM_003648.2:c.2698-19T>C;ESP6500_MAF=18.0233,36.8134,33.3231;ESP6500_TAC=4334,8672	GT:AD:DP:GQ:PL	0/1:16,8:24:99:232,0,402
chr2	233464121	rs2924811	T	C	361.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.38;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=9.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.494;SOR=2.67;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2924811;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|26/29|c.3187-43T>C||||||,C|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding|25/28|c.3055-43T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1317;p3_1000G_AF=0.262979;p3_1000G_AFR_AF=0.5333;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=17825;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234372767;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2003,2397;ESP6500_AA_GTC=470,1063,667;ESP6500_CDS_SIZES=NM_152879.2:3645,NM_003648.2:3513;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=22;ESP6500_EA_AC=1785,6813;ESP6500_EA_GTC=191,1403,2705;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152879.2:intron,NM_003648.2:intron;ESP6500_GL=DGKD;ESP6500_GRCh38_POSITION=2:233464121;ESP6500_GTC=661,2466,3372;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152879.2:c.3187-43T>C,NM_003648.2:c.3055-43T>C;ESP6500_MAF=20.7606,45.5227,29.1429;ESP6500_TAC=3788,9210	GT:AD:DP:GQ:PL	0/1:14,12:26:99:390,0,337
chr2	233464339	rs2242098	A	C	161.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.165;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.664;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242098;dbSNPBuildID=98;ANN=C|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_152879.2|protein_coding|27/29|c.3306+56A>C||||||,C|intron_variant|MODIFIER|DGKD|DGKD|transcript|NM_003648.2|protein_coding|26/28|c.3174+56A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1968;p3_1000G_AF=0.392971;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=18977;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.3489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234372985;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2689;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:190,0,163
chr2	233477372	rs2971862	A	G	498.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=1.89;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2971862;dbSNPBuildID=101;ANN=G|3_prime_UTR_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|31/31|c.*20T>C|||||20|;p3_1000G_AA=G|||;p3_1000G_AC=1284;p3_1000G_AF=0.25639;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=18668;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.2465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234386018;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1702,2332;ESP6500_AA_GTC=358,986,673;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=36;ESP6500_EA_AC=1765,6573;ESP6500_EA_GTC=190,1385,2594;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:utr-3;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233477372;ESP6500_GTC=548,2371,3267;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.*20T>C;ESP6500_MAF=21.1681,42.1914,28.023;ESP6500_TAC=3467,8905	GT:AD:DP:GQ:PL	0/1:12,17:29:99:527,0,345
chr2	233477488	rs2971863	A	G	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.684;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.417;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2971863;dbSNPBuildID=101;ANN=G|synonymous_variant|LOW|USP40|USP40|transcript|NM_018218.2|protein_coding|31/31|c.3648T>C|p.His1216His|3648/5617|3648/3744|1216/1247||;p3_1000G_AA=G|||;p3_1000G_AC=1283;p3_1000G_AF=0.25619;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=18552;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.2455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234386134;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1725,2407;ESP6500_AA_GTC=364,997,705;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=-5.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=57;ESP6500_EA_AC=1772,6656;ESP6500_EA_GTC=190,1392,2632;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:coding-synonymous;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233477488;ESP6500_GTC=554,2389,3337;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.3648T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018218.2:p.(H1216);ESP6500_MAF=21.0252,41.7473,27.8424;ESP6500_TAC=3497,9063	GT:AD:DP:GQ:PL	0/1:16,14:30:99:348,0,382
chr2	233485563	rs145708986	A	G	688.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=5.189;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=1.24;SOR=0.294;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145708986;dbSNPBuildID=134;ANN=G|missense_variant|MODERATE|USP40|USP40|transcript|NM_018218.2|protein_coding|29/31|c.3505T>C|p.Tyr1169His|3505/5617|3505/3744|1169/1247||;p3_1000G_AA=A|||;p3_1000G_AC=8;p3_1000G_AF=0.00159744;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20491;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234394209;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,27:59:99:717,0,828
chr2	233485683	rs1470864	C	A	1294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.306;ClippingRankSum=0;DP=103;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.413;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1470864;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|28/30|c.3442-57G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1208;p3_1000G_AF=0.241214;p3_1000G_AFR_AF=0.4478;p3_1000G_AMR_AF=0.1527;p3_1000G_AN=5008;p3_1000G_DP=18991;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234394329;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1323,0,1376
chr2	233485841	rs1048603	G	A	848.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.636;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-1.086;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1048603;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|USP40|USP40|transcript|NM_018218.2|protein_coding|28/31|c.3367C>T|p.Arg1123Cys|3367/5617|3367/3744|1123/1247||;p3_1000G_AA=A|||;p3_1000G_AC=2004;p3_1000G_AF=0.40016;p3_1000G_AFR_AF=0.7489;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=17737;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.3618;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234394487;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2480,1328;ESP6500_AA_GTC=819,842,243;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=23;ESP6500_EA_AC=2595,5643;ESP6500_EA_GTC=414,1767,1938;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018218.2:missense;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233485841;ESP6500_GS=180;ESP6500_GTC=1233,2609,2181;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.3367C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018218.2:p.(R1123C);ESP6500_MAF=31.5004,34.8739,42.1302;ESP6500_PH=benign:0.0;ESP6500_TAC=5075,6971	GT:AD:DP:GQ:PL	0/1:36,34:70:99:877,0,1090
chr2	233485923	rs2603547	A	G	846.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.07;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=3.143;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.37;SOR=1.014;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2603547;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|USP40|USP40|transcript|NM_018218.2|protein_coding|28/31|c.3285T>C|p.Tyr1095Tyr|3285/5617|3285/3744|1095/1247||;p3_1000G_AA=G|||;p3_1000G_AC=1286;p3_1000G_AF=0.256789;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.1542;p3_1000G_AN=5008;p3_1000G_DP=16483;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234394569;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1637,2333;ESP6500_AA_GTC=357,923,705;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=1735,6567;ESP6500_EA_GTC=188,1359,2604;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:coding-synonymous;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233485923;ESP6500_GTC=545,2282,3309;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.3285T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018218.2:p.(Y1095);ESP6500_MAF=20.8986,41.2343,27.4772;ESP6500_TAC=3372,8900	GT:AD:DP:GQ:PL	0/1:43,31:74:99:875,0,1102
chr2	233487896	rs2167885	G	A	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.967;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2167885;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|27/30|c.3230+343C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=876;p3_1000G_AF=0.17492;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=18266;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2435;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234396542;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1186;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:57:113,0,57
chr2	233488360	rs145883223	AT	A	349.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.836;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.129;SOR=0.481;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs145883223;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|26/30|c.3165-57delA||||||;p3_1000G_AA=TTTTTTT|TTTTTTTT|TTTTTTT|insertion;p3_1000G_AC=574;p3_1000G_AF=0.114617;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.1095;p3_1000G_AN=5008;p3_1000G_DP=18116;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234397006;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=INDEL;ESP6500_AA_AC=421,2929;ESP6500_AA_GTC=47,327,1301;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=41;ESP6500_EA_AC=1662,5906;ESP6500_EA_GTC=258,1146,2380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:intron;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233488360;ESP6500_GTC=305,1473,3681;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.3165-57del1;ESP6500_MAF=21.9609,12.5672,19.0786;ESP6500_TAC=2083,8835	GT:AD:DP:GQ:PL	0/1:8,15:23:99:387,0,173
chr2	233489549	rs112451786	G	GA	150.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.165;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs112451786;dbSNPBuildID=132;ANN=GA|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|25/30|c.3046-67dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=873;p3_1000G_AF=0.174321;p3_1000G_AFR_AF=0.2746;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=22407;p3_1000G_EAS_AF=0.0466;p3_1000G_EUR_AF=0.2465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234398195;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:4,8:12:77:188,0,77
chr2	233496728	rs2602386	A	C	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.127;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-0.28;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2602386;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|23/30|c.2823+30T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2047;p3_1000G_AF=0.408746;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.2752;p3_1000G_AN=5008;p3_1000G_DP=16622;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.3608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234405374;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.274;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2473,1167;ESP6500_AA_GTC=861,751,208;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=67;ESP6500_EA_AC=2577,5569;ESP6500_EA_GTC=414,1749,1910;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:intron;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233496728;ESP6500_GTC=1275,2500,2118;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.2823+30T>G;ESP6500_MAF=31.6352,32.0604,42.8474;ESP6500_TAC=5050,6736	GT:AD:DP:GQ:PL	0/1:7,7:14:99:150,0,212
chr2	233498514	rs2603546	C	T	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.889;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.245;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2603546;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|22/30|c.2748+34G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=696;p3_1000G_AF=0.138978;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.1297;p3_1000G_AN=5008;p3_1000G_DP=20783;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.2425;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234407160;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=567,3143;ESP6500_AA_GTC=40,487,1328;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=1733,6435;ESP6500_EA_GTC=189,1355,2540;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:intron;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233498514;ESP6500_GTC=229,1842,3868;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.2748+34G>A;ESP6500_MAF=21.2169,15.283,19.3635;ESP6500_TAC=2300,9578	GT:AD:DP:GQ:PL	0/1:10,15:25:99:409,0,316
chr2	233521093	rs141501074;rs397953463;rs59586144;~rs68011824	T	TTTC	193.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.291;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=0.712;SOR=2.303;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141501074;dbSNPBuildID=134,138,138;ANN=TTTC|disruptive_inframe_insertion|MODERATE|USP40|USP40|transcript|NM_018218.2|protein_coding|16/31|c.2253_2255dupGAA|p.Lys752dup|2255/5617|2255/3744|752/1247||;p3_1000G_AC=749;p3_1000G_AF=0.149561;p3_1000G_AFR_AF=0.1967;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=19239;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.2425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234429739;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1094;p3_1000G_VT=INDEL;ESP6500_AA_AC=676,2890;ESP6500_AA_GTC=63,550,1170;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=-1.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=84;ESP6500_EA_AC=1690,6138;ESP6500_EA_GTC=187,1316,2411;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:coding;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233521093;ESP6500_GTC=250,1866,3581;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.2255_2256insGAA;ESP6500_HGVS_PROTEIN_VAR=NM_018218.2:p.(K752delinsKK);ESP6500_MAF=21.5892,18.9568,20.7653;ESP6500_TAC=2366,9028	GT:AD:DP:GQ:PL	0/1:4,6:10:99:231,0,184
chr2	233523371	rs838543	A	G	972.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.02;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=6.099;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.41;SOR=1.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs838543;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|USP40|USP40|transcript|NM_018218.2|protein_coding|15/31|c.2033T>C|p.Val678Ala|2033/5617|2033/3744|678/1247||;p3_1000G_AA=A|||;p3_1000G_AC=902;p3_1000G_AF=0.180112;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=19676;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234432017;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1176;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=848,3170;ESP6500_AA_GTC=86,676,1247;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=5.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=172;ESP6500_EA_AC=1761,6597;ESP6500_EA_GTC=188,1385,2606;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018218.2:missense;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233523371;ESP6500_GS=64;ESP6500_GTC=274,2061,3853;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.2033T>C;ESP6500_HGVS_PROTEIN_VAR=NM_018218.2:p.(V678A);ESP6500_MAF=21.0696,21.105,21.0811;ESP6500_PH=benign:0.107;ESP6500_TAC=2609,9767	GT:AD:DP:GQ:PL	0/1:43,35:78:99:1001,0,1091
chr2	233524478	rs838549	G	A	563.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.099;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.004;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-0.862;SOR=0.852;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs838549;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|14/30|c.1914+14C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=841;p3_1000G_AF=0.167931;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.1311;p3_1000G_AN=5008;p3_1000G_DP=17311;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.2435;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234433124;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1176;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=679,2977;ESP6500_AA_GTC=63,553,1212;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=69;ESP6500_EA_AC=1732,6430;ESP6500_EA_GTC=187,1358,2536;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:intron;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233524478;ESP6500_GTC=250,1911,3748;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.1914+14C>T;ESP6500_MAF=21.2203,18.5722,20.4011;ESP6500_TAC=2411,9407	GT:AD:DP:GQ:PL	0/1:37,23:60:99:592,0,1025
chr2	233529600	rs56828432	C	CT	50.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.921;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=1.93;SOR=1.27;INS;HET;VARTYPE=INS;dbSNP138_ID=rs56828432;dbSNPBuildID=130;ANN=CT|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|10/30|c.1505-89dupA||||||;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=3992;p3_1000G_AF=0.797125;p3_1000G_AFR_AF=0.6936;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=16141;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.7535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234438246;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8814;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,3:8:88:88,0,163
chr2	233533791	rs11332355;rs568527446;rs796947308	CA	C	367.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.625;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.779;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.904;SOR=0.213;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11332355;dbSNPBuildID=146,142,132;ANN=C|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|9/30|c.1204-13delT||||||	GT:AD:DP:GQ:PL	0/1:11,17:28:99:405,0,220
chr2	233540670	rs2167884	G	A	506.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.387;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=2.82;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2167884;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|USP40|USP40|transcript|NM_018218.2|protein_coding|9/31|c.1195C>T|p.Leu399Leu|1195/5617|1195/3744|399/1247||;p3_1000G_AA=G|||;p3_1000G_AC=4106;p3_1000G_AF=0.819888;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.866;p3_1000G_AN=5008;p3_1000G_DP=17485;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.7565;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234449316;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8824;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2926,814;ESP6500_AA_GTC=1137,652,81;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=153;ESP6500_EA_AC=6483,1747;ESP6500_EA_GTC=2557,1369,189;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:coding-synonymous;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233540670;ESP6500_GTC=3694,2021,270;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.1195C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018218.2:p.(L399);ESP6500_MAF=21.2272,21.7647,21.3952;ESP6500_TAC=9409,2561	GT:AD:DP:GQ:PL	0/1:12,25:37:99:535,0,255
chr2	233540816	rs1545525	T	C	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.427;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.857;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1545525;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|8/30|c.1099-50A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3823;p3_1000G_AF=0.763379;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=16582;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.7535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234449462;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8814;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1200,688;ESP6500_AA_GTC=385,430,129;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=65;ESP6500_EA_AC=3269,885;ESP6500_EA_GTC=1285,699,93;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:intron;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233540816;ESP6500_GTC=1670,1129,222;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.1099-50A>G;ESP6500_MAF=21.3048,36.4407,26.0344;ESP6500_TAC=4469,1573	GT:AD:DP:GQ:PL	0/1:7,6:13:99:148,0,185
chr2	233542176	rs1901812	T	C	82.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.81;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.6;ReadPosRankSum=-0.739;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1901812;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|8/30|c.1098+92A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4229;p3_1000G_AF=0.844449;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=19303;p3_1000G_EAS_AF=0.9544;p3_1000G_EUR_AF=0.7575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234450822;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,4:18:99:111,0,423
chr2	233549254	rs3965793	T	A	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=-0.303;SOR=0.18;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3965793;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|6/30|c.874-25A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2960;p3_1000G_AF=0.591054;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=14174;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.6402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234457900;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.727;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1140,2364;ESP6500_AA_GTC=218,704,830;ESP6500_CDS_SIZES=NM_018218.2:3744;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=13;ESP6500_EA_AC=5499,2515;ESP6500_EA_GTC=1929,1641,437;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018218.2:intron;ESP6500_GL=USP40;ESP6500_GRCh38_POSITION=2:233549254;ESP6500_GTC=2147,2345,1267;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_018218.2:c.874-25A>T;ESP6500_MAF=31.3826,32.5342,42.3598;ESP6500_TAC=6639,4879	GT:AD:DP:GQ:PL	0/1:2,5:7:62:145,0,62
chr2	233561018	rs6753062	T	C	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-0.146;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6753062;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|USP40|USP40|transcript|NM_018218.2|protein_coding|2/30|c.304-1094A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=3830;p3_1000G_AF=0.764776;p3_1000G_AFR_AF=0.5734;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=16504;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.7545;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234469664;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,11:33:99:266,0,566
chr2	233618225	rs1042597	C	G	1290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.25;ClippingRankSum=0;DP=110;ExcessHet=3.0103;FS=2.483;MLEAC=1;MLEAF=0.5;MQ=59.08;MQRankSum=-3.742;QD=11.73;ReadPosRankSum=1.65;SOR=0.621;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1042597;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/5|c.518C>G|p.Ala173Gly|581/2396|518/1593|173/530||;p3_1000G_AA=-|||;p3_1000G_AC=1282;p3_1000G_AF=0.25599;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=17737;p3_1000G_EAS_AF=0.506;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234526871;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=345,4061;ESP6500_AA_AGE=178.0+/-206.8;ESP6500_AA_GTC=12,321,1870;ESP6500_CDS_SIZES=NM_019076.4:1593;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=183;ESP6500_EA_AC=2127,6473;ESP6500_EA_AGE=367.0+/-334.5;ESP6500_EA_GTC=269,1589,2442;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_019076.4:missense;ESP6500_GL=UGT1A8;ESP6500_GRCh38_POSITION=2:233618225;ESP6500_GS=60;ESP6500_GTC=281,1910,4312;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_019076.4:c.518C>G;ESP6500_HGVS_PROTEIN_VAR=NM_019076.4:p.(A173G);ESP6500_MAF=24.7326,7.8302,19.0066;ESP6500_PH=benign:0.044;ESP6500_TAC=2472,10534	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1319,0,1731
chr2	233636393	rs149250772;rs561374954	A	AT	185.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.992;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.28;MQRankSum=-3.094;QD=7.43;ReadPosRankSum=1.53;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs149250772,rs56891056;dbSNPBuildID=142,134;ANN=AT|upstream_gene_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding||c.-130_-129insT|||||83|,AT|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+17844dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2440;p3_1000G_AF=0.48722;p3_1000G_AFR_AF=0.5129;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=20759;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.4702;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234545039;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5041;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,12:25:99:223,0,250
chr2	233671807	rs3832043;rs549760436;225993	AT	A	271.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.476;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=3.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-1.428;SOR=1.581;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3832043;dbSNPBuildID=136;ANN=A|upstream_gene_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding||c.-127delT|||||90|,A|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+53255delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+34440delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=20350;p3_1000G_EAS_AF=0.4315;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234580453;p3_1000G_GRCH37_REF=AT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=227745;CLINVAR_CLNDISDB=MedGen:CN236455;CLINVAR_CLNDN=SN-38_response_-_Other;CLINVAR_CLNHGVS=NC_000002.12:g.233671808delT;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=drug_response;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=PharmGKB_Clinical_Annotation:1183615199|PharmGKB:1183615199|PharmGKB:1183615199PA165110775;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A9:54600;CLINVAR_MC=SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3832043	GT:AD:DP:GQ:PL	0/1:25,15:40:99:309,0,593
chr2	233681881	rs7586110;440384	T	G	508.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.213;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.656;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.49;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7586110;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding||c.-57T>G|||||57|,G|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+63319T>G||||||,G|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+44504T>G||||||,G|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+9092T>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1491;p3_1000G_AF=0.297724;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=18928;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234590527;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP;CLINVAR_ALLELEID=434018;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233681881T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16061;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A9:54600;CLINVAR_ORIGIN=1;CLINVAR_RS=7586110	GT:AD:DP:GQ:PL	0/1:29,20:49:99:537,0,860
chr2	233681970	rs7577677;440385	C	A	1039.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.543;ClippingRankSum=0;DP=90;ExcessHet=3.0103;FS=2.823;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.8;SOR=0.454;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7577677;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/5|c.33C>A|p.Pro11Pro|33/2333|33/1593|11/530||,A|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+63408C>A||||||,A|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+44593C>A||||||,A|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+9181C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1489;p3_1000G_AF=0.297324;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=18471;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.3598;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234590616;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1205,3201;ESP6500_AA_AGE=420.8+/-339.2;ESP6500_AA_GTC=179,847,1177;ESP6500_CDS_SIZES=NM_021027.2:1593,NM_019077.2:1593,NM_019076.4:1593,NM_019075.2:1593;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=131;ESP6500_EA_AC=3332,5268;ESP6500_EA_AGE=496.3+/-374.3;ESP6500_EA_GTC=653,2026,1621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021027.2:intron,NM_019077.2:coding-synonymous,NM_019076.4:intron,NM_019075.2:intron;ESP6500_GL=UGT1A10,UGT1A8,UGT1A7,UGT1A9;ESP6500_GRCh38_POSITION=2:233681970;ESP6500_GTC=832,2873,2798;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_021027.2:c.855+9181C>A,NM_019077.2:c.33C>A,NM_019076.4:c.855+63408C>A,NM_019075.2:c.855+44593C>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_019077.2:p.(P11),.,.;ESP6500_MAF=38.7442,27.3491,34.8839;ESP6500_TAC=4537,8469;CLINVAR_ALLELEID=434019;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233681970C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16062;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A9:54600;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7577677	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1068,0,1417
chr2	233682324	rs17868323;440386	T	G	1199.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.16;ClippingRankSum=0;DP=109;ExcessHet=3.0103;FS=1.611;MLEAC=1;MLEAF=0.5;MQ=59.81;MQRankSum=-2.035;QD=11.01;ReadPosRankSum=1.46;SOR=0.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17868323;dbSNPBuildID=123;ANN=G|missense_variant|MODERATE|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/5|c.387T>G|p.Asn129Lys|387/2333|387/1593|129/530||,G|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+63762T>G||||||,G|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+44947T>G||||||,G|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+9535T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2886;p3_1000G_AF=0.576278;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=19279;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234590970;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;CLINVAR_ALLELEID=434020;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233682324T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16064;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A9:54600;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17868323	GT:AD:DP:GQ:PGT:PID:PL	0/1:63,46:109:99:0|1:233682324_T_G:1228,0,5556
chr2	233682328	rs17863778;440387	C	A	1884.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.301;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=2.507;MLEAC=1;MLEAF=0.5;MQ=59.81;MQRankSum=-1.956;QD=16.98;ReadPosRankSum=1.28;SOR=0.945;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17863778;dbSNPBuildID=126;ANN=A|synonymous_variant|LOW|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/5|c.391C>A|p.Arg131Arg|391/2333|391/1593|131/530||,A|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+63766C>A||||||,A|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+44951C>A||||||,A|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+9539C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2886;p3_1000G_AF=0.576278;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=18899;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234590974;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;CLINVAR_ALLELEID=434021;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233682328C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16065;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A9:54600;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17863778	GT:AD:DP:GQ:PGT:PID:PL	0/1:62,49:111:99:0|1:233682324_T_G:1913,0,3770
chr2	233682329	rs17868324;440388	G	A	1884.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.347;ClippingRankSum=0;DP=113;ExcessHet=3.0103;FS=1.565;MLEAC=1;MLEAF=0.5;MQ=59.82;MQRankSum=-1.916;QD=16.68;ReadPosRankSum=0.285;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17868324;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/5|c.392G>A|p.Arg131Gln|392/2333|392/1593|131/530||,A|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+63767G>A||||||,A|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+44952G>A||||||,A|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+9540G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2886;p3_1000G_AF=0.576278;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=19096;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234590975;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;CLINVAR_ALLELEID=434022;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233682329G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16066;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A9:54600;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17868324	GT:AD:DP:GQ:PGT:PID:PL	0/1:62,51:113:99:0|1:233682324_T_G:1913,0,3770
chr2	233682559	rs11692021;440389	T	C	1490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.32;ClippingRankSum=0;DP=116;ExcessHet=3.0103;FS=0.685;MLEAC=1;MLEAF=0.5;MQ=59.97;MQRankSum=-0.966;QD=12.85;ReadPosRankSum=-1.369;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11692021;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/5|c.622T>C|p.Trp208Arg|622/2333|622/1593|208/530||,C|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+63997T>C||||||,C|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+45182T>C||||||,C|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+9770T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1491;p3_1000G_AF=0.297724;p3_1000G_AFR_AF=0.2496;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=19491;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.3598;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234591205;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1211,3195;ESP6500_AA_AGE=422.5+/-339.8;ESP6500_AA_GTC=180,851,1172;ESP6500_CDS_SIZES=NM_021027.2:1593,NM_019077.2:1593,NM_019076.4:1593,NM_019075.2:1593;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=182;ESP6500_EA_AC=3331,5269;ESP6500_EA_AGE=496.2+/-374.2;ESP6500_EA_GTC=653,2025,1622;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_021027.2:intron,NM_019077.2:missense,NM_019076.4:intron,NM_019075.2:intron;ESP6500_GL=UGT1A10,UGT1A8,UGT1A7,UGT1A9;ESP6500_GRCh38_POSITION=2:233682559;ESP6500_GS=.,101,.,.;ESP6500_GTC=833,2876,2794;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_021027.2:c.855+9770T>C,NM_019077.2:c.622T>C,NM_019076.4:c.855+63997T>C,NM_019075.2:c.855+45182T>C;ESP6500_HGVS_PROTEIN_VAR=.,NM_019077.2:p.(W208R),.,.;ESP6500_MAF=38.7326,27.4852,34.9223;ESP6500_PH=.,benign:0.0,.,.;ESP6500_TAC=4542,8464;CLINVAR_ALLELEID=434023;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233682559T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16067;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A9:54600;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11692021	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1519,0,1380
chr2	233690345	rs7563561	T	G	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.7;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.755;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7563561;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding||c.-2660T>G|||||2521|,G|upstream_gene_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding||c.-3461T>G|||||1330|,G|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+71783T>G||||||,G|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+52968T>G||||||,G|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+17556T>G||||||,G|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+7553T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1815;p3_1000G_AF=0.36242;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=17062;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.3827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234598991;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:219,0,262
chr2	233690443	rs7608175	C	G	790.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=3.874;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.512;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7608175;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding||c.-2562C>G|||||2423|,G|upstream_gene_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding||c.-3363C>G|||||1232|,G|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+71881C>G||||||,G|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+53066C>G||||||,G|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+17654C>G||||||,G|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+7651C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1787;p3_1000G_AF=0.356829;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=19224;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.3827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234599089;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,30:54:99:819,0,539
chr2	233690588	rs765251456	G	GA	226.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.191;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=-0.479;SOR=0.373;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=GA|upstream_gene_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding||c.-2417_-2416insA|||||2277|,GA|upstream_gene_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding||c.-3218_-3217insA|||||1086|,GA|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+72038dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+53223dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+17811dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+7808dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:23,15:38:99:264,0,496
chr2	233690650	rs45615240	T	C	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.524;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.086;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=1.04;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs45615240;dbSNPBuildID=127;ANN=C|upstream_gene_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding||c.-2355T>C|||||2216|,C|upstream_gene_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding||c.-3156T>C|||||1025|,C|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.855+72088T>C||||||,C|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+53273T>C||||||,C|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+17861T>C||||||,C|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+7858T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1814;p3_1000G_AF=0.36222;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=18370;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.3827;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234599296;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:350,0,209
chr2	233693023	rs6759892;440378	T	G	253.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-1.031;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6759892;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding|1/5|c.19T>G|p.Ser7Ala|158/2484|19/1599|7/532||,G|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.856-74011T>G||||||,G|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+55646T>G||||||,G|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+20234T>G||||||,G|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+10231T>G||||||,G|intron_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding|1/5|c.-7-776T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1814;p3_1000G_AF=0.36222;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=17751;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.3827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234601669;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1700,2706;ESP6500_AA_GTC=341,1018,844;ESP6500_CDS_SIZES=NM_205862.1:798,NM_021027.2:1593,NM_019077.2:1593,NM_019076.4:1593,NM_019075.2:1593,NM_001072.3:1599;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=3557,5043;ESP6500_EA_GTC=749,2059,1492;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205862.1:intron,NM_021027.2:intron,NM_019077.2:intron,NM_019076.4:intron,NM_019075.2:intron,NM_001072.3:missense;ESP6500_GL=UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A9;ESP6500_GRCh38_POSITION=2:233693023;ESP6500_GS=.,.,.,.,.,99;ESP6500_GTC=1090,3077,2336;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_205862.1:c.-783T>G,NM_021027.2:c.855+20234T>G,NM_019077.2:c.855+10231T>G,NM_019076.4:c.856-74011T>G,NM_019075.2:c.855+55646T>G,NM_001072.3:c.19T>G;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,.,NM_001072.3:p.(S7A);ESP6500_MAF=41.3605,38.5837,40.4198;ESP6500_PH=.,.,.,.,.,benign:0.0;ESP6500_TAC=5257,7749;CLINVAR_ALLELEID=434012;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233693023T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16068;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A6:54578|UGT1A9:54600;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6759892	GT:AD:DP:GQ:PL	0/1:14,10:24:99:282,0,334
chr2	233693319	rs1105880;440379	A	G	845.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=3.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=1.49;SOR=0.471;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1105880;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding|1/5|c.315A>G|p.Leu105Leu|454/2484|315/1599|105/532||,G|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.856-73715A>G||||||,G|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+55942A>G||||||,G|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+20530A>G||||||,G|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+10527A>G||||||,G|intron_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding|1/5|c.-7-480A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1716;p3_1000G_AF=0.342652;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=21918;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234601965;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1611,2795;ESP6500_AA_AGE=663.2+/-401.2;ESP6500_AA_GTC=308,995,900;ESP6500_CDS_SIZES=NM_205862.1:798,NM_021027.2:1593,NM_019077.2:1593,NM_019076.4:1593,NM_019075.2:1593,NM_001072.3:1599;ESP6500_CG=2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=85;ESP6500_EA_AC=3078,5522;ESP6500_EA_AGE=660.8+/-401.8;ESP6500_EA_GTC=563,1952,1785;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205862.1:intron,NM_021027.2:intron,NM_019077.2:intron,NM_019076.4:intron,NM_019075.2:intron,NM_001072.3:coding-synonymous;ESP6500_GL=UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A9;ESP6500_GRCh38_POSITION=2:233693319;ESP6500_GTC=871,2947,2685;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_205862.1:c.-487A>G,NM_021027.2:c.855+20530A>G,NM_019077.2:c.855+10527A>G,NM_019076.4:c.856-73715A>G,NM_019075.2:c.855+55942A>G,NM_001072.3:c.315A>G;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,.,NM_001072.3:p.(L105);ESP6500_MAF=35.7907,36.5638,36.0526;ESP6500_TAC=4689,8317;CLINVAR_ALLELEID=434013;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233693319A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16069;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A6:54578|UGT1A9:54600;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1105880	GT:AD:DP:GQ:PL	0/1:25,31:56:99:874,0,631
chr2	233693545	rs2070959;440381	A	G	1305.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=104;ExcessHet=3.0103;FS=6.214;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.102;SOR=0.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2070959;dbSNPBuildID=96;ANN=G|missense_variant|MODERATE|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding|1/5|c.541A>G|p.Thr181Ala|680/2484|541/1599|181/532||,G|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.856-73489A>G||||||,G|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+56168A>G||||||,G|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+20756A>G||||||,G|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+10753A>G||||||,G|intron_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding|1/5|c.-7-254A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1390;p3_1000G_AF=0.277556;p3_1000G_AFR_AF=0.239;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=19575;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.3101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234602191;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4182;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1110,3296;ESP6500_AA_AGE=400.1+/-331.5;ESP6500_AA_GTC=155,800,1248;ESP6500_CDS_SIZES=NM_205862.1:798,NM_021027.2:1593,NM_019077.2:1593,NM_019076.4:1593,NM_019075.2:1593,NM_001072.3:1599;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=152;ESP6500_EA_AC=2852,5748;ESP6500_EA_AGE=448.5+/-361.8;ESP6500_EA_GTC=480,1892,1928;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205862.1:intron,NM_021027.2:intron,NM_019077.2:intron,NM_019076.4:intron,NM_019075.2:intron,NM_001072.3:missense;ESP6500_GL=UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A9;ESP6500_GRCh38_POSITION=2:233693545;ESP6500_GS=.,.,.,.,.,58;ESP6500_GTC=635,2692,3176;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_205862.1:c.-261A>G,NM_021027.2:c.855+20756A>G,NM_019077.2:c.855+10753A>G,NM_019076.4:c.856-73489A>G,NM_019075.2:c.855+56168A>G,NM_001072.3:c.541A>G;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,.,NM_001072.3:p.(T181A);ESP6500_MAF=33.1628,25.1929,30.4629;ESP6500_PH=.,.,.,.,.,benign:0.0;ESP6500_TAC=3962,9044;CLINVAR_ALLELEID=434015;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233693545A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16070;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A6:54578|UGT1A9:54600;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2070959	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1334,0,1363
chr2	233693556	rs1105879;440380	A	C	1349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=7.606;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.083;SOR=0.797;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1105879;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding|1/5|c.552A>C|p.Arg184Ser|691/2484|552/1599|184/532||,C|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.856-73478A>C||||||,C|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.855+56179A>C||||||,C|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+20767A>C||||||,C|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+10764A>C||||||,C|intron_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding|1/5|c.-7-243A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1626;p3_1000G_AF=0.324681;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=19814;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234602202;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1345,3061;ESP6500_AA_AGE=450.0+/-349.2;ESP6500_AA_GTC=223,899,1081;ESP6500_CDS_SIZES=NM_205862.1:798,NM_021027.2:1593,NM_019077.2:1593,NM_019076.4:1593,NM_019075.2:1593,NM_001072.3:1599;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=151;ESP6500_EA_AC=3076,5524;ESP6500_EA_AGE=471.0+/-368.0;ESP6500_EA_GTC=563,1950,1787;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205862.1:intron,NM_021027.2:intron,NM_019077.2:intron,NM_019076.4:intron,NM_019075.2:intron,NM_001072.3:missense;ESP6500_GL=UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A9;ESP6500_GRCh38_POSITION=2:233693556;ESP6500_GS=.,.,.,.,.,110;ESP6500_GTC=786,2849,2868;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_205862.1:c.-250A>C,NM_021027.2:c.855+20767A>C,NM_019077.2:c.855+10764A>C,NM_019076.4:c.856-73478A>C,NM_019075.2:c.855+56179A>C,NM_001072.3:c.552A>C;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,.,NM_001072.3:p.(R184S);ESP6500_MAF=35.7674,30.5266,33.992;ESP6500_PH=.,.,.,.,.,benign:0.038;ESP6500_TAC=4421,8585;CLINVAR_ALLELEID=434014;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.233693556A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:16071;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A6:54578|UGT1A9:54600;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1105879	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1378,0,1337
chr2	233719291	rs2011404	T	C	4628.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=137;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.95;QD=34.04;SOR=0.99;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2011404;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|UGT1A4|UGT1A4|transcript|NM_007120.2|protein_coding|1/5|c.471T>C|p.Cys157Cys|500/2374|471/1605|157/534||,C|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.856-47743T>C||||||,C|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.856-47743T>C||||||,C|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.855+46502T>C||||||,C|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.855+36499T>C||||||,C|intron_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding|1/4|c.861+25426T>C||||||,C|intron_variant|MODIFIER|UGT1A5|UGT1A5|transcript|NM_019078.1|protein_coding|1/4|c.867+5433T>C||||||,C|intron_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding|2/5|c.60+25426T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4547;p3_1000G_AF=0.907947;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.889;p3_1000G_AN=5008;p3_1000G_DP=20625;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.8141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234627937;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4177,229;ESP6500_AA_AGE=136.9+/-172.8;ESP6500_AA_GTC=1979,219,5;ESP6500_CDS_SIZES=NM_205862.1:798,NM_021027.2:1593,NM_019078.1:1605,NM_019077.2:1593,NM_019076.4:1593,NM_019075.2:1593,NM_007120.2:1605,NM_001072.3:1599;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=172;ESP6500_EA_AC=7176,1424;ESP6500_EA_AGE=274.3+/-291.2;ESP6500_EA_GTC=3000,1176,124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_205862.1:intron,NM_021027.2:intron,NM_019078.1:intron,NM_019077.2:intron,NM_019076.4:intron,NM_019075.2:intron,NM_007120.2:coding-synonymous,NM_001072.3:intron;ESP6500_GL=UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4;ESP6500_GRCh38_POSITION=2:233719291;ESP6500_GTC=4979,1395,129;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_205862.1:c.60+25426T>C,NM_021027.2:c.855+46502T>C,NM_019078.1:c.867+5433T>C,NM_019077.2:c.855+36499T>C,NM_019076.4:c.856-47743T>C,NM_019075.2:c.856-47743T>C,NM_007120.2:c.471T>C,NM_001072.3:c.861+25426T>C;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,.,.,NM_007120.2:p.(C157),.;ESP6500_MAF=16.5581,5.1975,12.7095;ESP6500_TAC=11353,1653	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4657,408,0
chr2	233760498	rs4148323;12280	G	A	3396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.077;ClippingRankSum=0;DP=262;ExcessHet=3.0103;FS=1.481;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.05;SOR=0.796;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4148323;dbSNPBuildID=110;ANN=A|missense_variant|MODERATE|UGT1A1|UGT1A1|transcript|NM_000463.2|protein_coding|1/5|c.211G>A|p.Gly71Arg|226/2357|211/1602|71/533||,A|intron_variant|MODIFIER|UGT1A8|UGT1A8|transcript|NM_019076.4|protein_coding|1/4|c.856-6536G>A||||||,A|intron_variant|MODIFIER|UGT1A10|UGT1A10|transcript|NM_019075.2|protein_coding|1/4|c.856-6536G>A||||||,A|intron_variant|MODIFIER|UGT1A9|UGT1A9|transcript|NM_021027.2|protein_coding|1/4|c.856-6536G>A||||||,A|intron_variant|MODIFIER|UGT1A7|UGT1A7|transcript|NM_019077.2|protein_coding|1/4|c.856-6536G>A||||||,A|intron_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_001072.3|protein_coding|1/4|c.862-6536G>A||||||,A|intron_variant|MODIFIER|UGT1A5|UGT1A5|transcript|NM_019078.1|protein_coding|1/4|c.868-6536G>A||||||,A|intron_variant|MODIFIER|UGT1A4|UGT1A4|transcript|NM_007120.2|protein_coding|1/4|c.868-6536G>A||||||,A|intron_variant|MODIFIER|UGT1A3|UGT1A3|transcript|NM_019093.2|protein_coding|1/4|c.868-6536G>A||||||,A|intron_variant|MODIFIER|UGT1A6|UGT1A6|transcript|NM_205862.1|protein_coding|2/5|c.61-6536G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=172;p3_1000G_AF=0.034345;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=21348;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234669144;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=11.4+/-27.6;ESP6500_AA_GTC=0,6,2197;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...54659&amp%3Brs...4148323|http://www.ncbi.nlm.nih.gov/omim/143500,191740|http://omim.org/entry/191740#0016;ESP6500_CDS_SIZES=NM_205862.1:798,NM_021027.2:1593,NM_019093.2:1605,NM_019078.1:1605,NM_019077.2:1593,NM_019076.4:1593,NM_019075.2:1593,NM_007120.2:1605,NM_001072.3:1599,NM_000463.2:1602;ESP6500_CG=5.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_110;ESP6500_DP=164;ESP6500_EA_AC=11,8589;ESP6500_EA_AGE=8.4+/-32.0;ESP6500_EA_GTC=0,11,4289;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_205862.1:intron,NM_021027.2:intron,NM_019093.2:intron,NM_019078.1:intron,NM_019077.2:intron,NM_019076.4:intron,NM_019075.2:intron,NM_007120.2:intron,NM_001072.3:intron,NM_000463.2:missense;ESP6500_GL=UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3;ESP6500_GRCh38_POSITION=2:233760498;ESP6500_GS=.,.,.,.,.,.,.,.,.,125;ESP6500_GTC=0,17,6486;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23371916;ESP6500_HGVS_CDNA_VAR=NM_205862.1:c.61-6536G>A,NM_021027.2:c.856-6536G>A,NM_019093.2:c.868-6536G>A,NM_019078.1:c.868-6536G>A,NM_019077.2:c.856-6536G>A,NM_019076.4:c.856-6536G>A,NM_019075.2:c.856-6536G>A,NM_007120.2:c.868-6536G>A,NM_001072.3:c.862-6536G>A,NM_000463.2:c.211G>A;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,.,.,.,.,.,NM_000463.2:p.(G71R);ESP6500_MAF=0.1279,0.1362,0.1307;ESP6500_PH=.,.,.,.,.,.,.,.,.,probably-damaging:0.982;ESP6500_TAC=17,12989;CLINVAR_AF_ESP=0.0013;CLINVAR_AF_EXAC=0.02066;CLINVAR_AF_TGP=0.0344;CLINVAR_ALLELEID=27319;CLINVAR_CLNDISDB=MedGen:C0017551,OMIM:143500,SNOMED_CT:27503000|MedGen:C0270210,OMIM:237900,Orphanet:ORPHA2312,SNOMED_CT:47444008|MedGen:C1866173,OMIM:601816|MedGen:CN077989|MedGen:CN169374|MedGen:CN236455|MedGen:CN236597;CLINVAR_CLNDN=Gilbert's_syndrome|Lucey-Driscoll_syndrome|Bilirubin,_serum_level_of,_quantitative_trait_locus_1|Irinotecan_response|not_specified|SN-38_response_-_Other|irinotecan_response_-_Other;CLINVAR_CLNHGVS=NC_000002.12:g.233760498G>A;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=drug_response;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:102693|Medical_Genetics_Summaries:UGT1A1*6|OMIM_Allelic_Variant:191740.0016|PharmGKB_Clinical_Annotation:981201713|PharmGKB_Clinical_Annotation:982047955|PharmGKB:981201713|PharmGKB:981201713PA450085|PharmGKB:982047955|PharmGKB:982047955PA165110775;CLINVAR_GENEINFO=UGT1A:7361|UGT1A10:54575|UGT1A8:54576|UGT1A7:54577|UGT1A6:54578|UGT1A5:54579|UGT1A9:54600|UGT1A4:54657|UGT1A1:54658|UGT1A3:54659;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4148323	GT:AD:DP:GQ:PL	0/1:125,136:261:99:3425,0,3111
chr2	233779390	rs6431631	C	A	1113.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6431631;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|2/42|c.32C>A|p.Ala11Asp|125/5324|32/5067|11/1688||;p3_1000G_AA=A|||;p3_1000G_AC=4153;p3_1000G_AF=0.829273;p3_1000G_AFR_AF=0.8404;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=21690;p3_1000G_EAS_AF=0.869;p3_1000G_EUR_AF=0.7972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234688036;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1142,99,0
chr2	233793566	rs6738710	G	C	345.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.37;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.639;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6738710;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|6/41|c.671-107G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1322;p3_1000G_AF=0.263978;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=19762;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.34;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234702212;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:374,0,348
chr2	233793813	rs1500481	T	C	1053.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.026;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=0.551;SOR=0.538;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1500481;dbSNPBuildID=88;ANN=C|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|7/42|c.811T>C|p.Tyr271His|904/5324|811/5067|271/1688||;p3_1000G_AA=C|||;p3_1000G_AC=3140;p3_1000G_AF=0.626997;p3_1000G_AFR_AF=0.6982;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=20486;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.5626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234702459;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5204;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,38:61:99:1082,0,494
chr2	233793874	rs17868350	C	T	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.267;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=-0.479;SOR=0.562;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17868350;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|7/41|c.822+50C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=18865;p3_1000G_EAS_AF=0.2321;p3_1000G_EUR_AF=0.0646;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234702520;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,13:36:99:314,0,776
chr2	233794259	rs10169532	C	T	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.719;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.41;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-0.778;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10169532;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|7/41|c.823-104C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1788;p3_1000G_AF=0.357029;p3_1000G_AFR_AF=0.2073;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=18814;p3_1000G_EAS_AF=0.3948;p3_1000G_EUR_AF=0.4095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234702905;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4151;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:259,0,210
chr2	233794490	rs6431634	T	C	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.568;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.23;ReadPosRankSum=0.055;SOR=0.655;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6431634;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|8/41|c.940+10T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3207;p3_1000G_AF=0.640375;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=17678;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.5656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234703136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,5:21:96:96,0,463
chr2	233795504	rs2885297	T	C	1238.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.92;SOR=4.68;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2885297;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|8/41|c.941-114T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4513;p3_1000G_AF=0.901158;p3_1000G_AFR_AF=0.9516;p3_1000G_AMR_AF=0.8732;p3_1000G_AN=5008;p3_1000G_DP=19306;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.7833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234704150;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1267,96,0
chr2	233795672	rs2361503	A	G	2524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.61;ClippingRankSum=0;DP=175;ExcessHet=3.0103;FS=6.531;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=1.94;SOR=0.415;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2361503;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|9/42|c.995A>G|p.Glu332Gly|1088/5324|995/5067|332/1688||;p3_1000G_AA=A|||;p3_1000G_AC=3269;p3_1000G_AF=0.652756;p3_1000G_AFR_AF=0.7791;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=21529;p3_1000G_EAS_AF=0.6796;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234704318;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:79,93:172:99:2553,0,1945
chr2	233795849	rs11563248	T	G	1004.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-0.942;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11563248;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|9/41|c.1068+104T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3090;p3_1000G_AF=0.617013;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=20101;p3_1000G_EAS_AF=0.6915;p3_1000G_EUR_AF=0.5517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234704495;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,31:61:99:1033,0,1021
chr2	233796044	rs759173	T	C	1898.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.91;SOR=0.841;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs759173;dbSNPBuildID=86;ANN=C|splice_region_variant&synonymous_variant|LOW|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|10/42|c.1146T>C|p.Leu382Leu|1239/5324|1146/5067|382/1688||;p3_1000G_AA=C|||;p3_1000G_AC=4454;p3_1000G_AF=0.889377;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.9006;p3_1000G_AN=5008;p3_1000G_DP=15102;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.8231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234704690;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1927,168,0
chr2	233796100	rs759172	G	C	2156.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.6;SOR=1.123;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs759172;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|10/41|c.1147+55G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4822;p3_1000G_AF=0.962859;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9452;p3_1000G_AN=5008;p3_1000G_DP=14203;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234704746;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2185,177,0
chr2	233798695	rs1500479	T	C	1391.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=1.556;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1500479;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|11/41|c.1262-79T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=4153;p3_1000G_AF=0.829273;p3_1000G_AFR_AF=0.8994;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=18671;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.8668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234707341;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,42:42:99:1|1:233798695_T_C:1420,126,0
chr2	233798804	rs369781271	T	A	1317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.826;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=9.324;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=27.45;ReadPosRankSum=0.716;SOR=0.125;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs369781271;dbSNPBuildID=138;ANN=A|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|12/42|c.1292T>A|p.Leu431Gln|1385/5324|1292/5067|431/1688||;p3_1000G_AA=T|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19385;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234707450;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,33:48:99:0|1:233798804_T_A:1346,0,809
chr2	233798814	rs11563247	G	C	1258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.695;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=14.53;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=28.61;ReadPosRankSum=1.18;SOR=0.044;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11563247;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|12/42|c.1302G>C|p.Arg434Arg|1395/5324|1302/5067|434/1688||;p3_1000G_AA=G|||;p3_1000G_AC=846;p3_1000G_AF=0.16893;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=19277;p3_1000G_EAS_AF=0.1637;p3_1000G_EUR_AF=0.2316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234707460;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1268;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,32:44:99:0|1:233798804_T_A:1287,0,731
chr2	233799782	rs13013882	G	A	641.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.3;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=8.477;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.056;SOR=2;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13013882;dbSNPBuildID=121;ANN=A|splice_region_variant&synonymous_variant|LOW|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|13/42|c.1341G>A|p.Val447Val|1434/5324|1341/5067|447/1688||;p3_1000G_AA=G|||;p3_1000G_AC=3165;p3_1000G_AF=0.631989;p3_1000G_AFR_AF=0.6006;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=19933;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.8181;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234708428;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,25:54:99:670,0,686
chr2	233799924	rs11563069	G	A	898.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.825;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.097;SOR=0.704;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11563069;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|13/41|c.1458+25G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3666;p3_1000G_AF=0.732029;p3_1000G_AFR_AF=0.792;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=21224;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.8161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234708570;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,35:54:99:927,0,478
chr2	233799983	rs13018934	G	A	613.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.674;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.61;ReadPosRankSum=-0.701;SOR=0.826;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13018934;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|13/41|c.1458+84G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3211;p3_1000G_AF=0.641174;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=21357;p3_1000G_EAS_AF=0.5327;p3_1000G_EUR_AF=0.6243;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234708629;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,20:26:99:642,0,165
chr2	233804275	rs10175949	G	A	884.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10175949;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|17/41|c.1900+83G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4460;p3_1000G_AF=0.890575;p3_1000G_AFR_AF=0.9622;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=21899;p3_1000G_EAS_AF=0.9008;p3_1000G_EUR_AF=0.8668;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234712921;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8824;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:913,81,0
chr2	233805166	rs2041651	G	T	321.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.911;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=2.17;SOR=0.519;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2041651;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|19/41|c.2061+55G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4064;p3_1000G_AF=0.811502;p3_1000G_AFR_AF=0.8351;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=18550;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.8628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234713812;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8712;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,13:24:99:350,0,336
chr2	233807626	rs143612294	T	TTG	500.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.161;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.361;SOR=0.551;INS;HET;VARTYPE=INS;dbSNP138_ID=rs143612294;dbSNPBuildID=134;ANN=TTG|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|20/41|c.2182-93_2182-92dupGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=422;p3_1000G_AF=0.0842652;p3_1000G_AFR_AF=0.149;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=24530;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234716272;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,17:33:99:0|1:233807626_T_TTG:538,0,493
chr2	233809023	rs10803663	A	G	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.14;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=0.609;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10803663;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|21/41|c.2305-103A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3498;p3_1000G_AF=0.698482;p3_1000G_AFR_AF=0.7753;p3_1000G_AMR_AF=0.6369;p3_1000G_AN=5008;p3_1000G_DP=21295;p3_1000G_EAS_AF=0.6925;p3_1000G_EUR_AF=0.66;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234717669;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,10:27:99:234,0,479
chr2	233812088	rs988344	A	C	473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.58;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs988344;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|24/41|c.2660+129A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4380;p3_1000G_AF=0.874601;p3_1000G_AFR_AF=0.91;p3_1000G_AMR_AF=0.7839;p3_1000G_AN=5008;p3_1000G_DP=17744;p3_1000G_EAS_AF=0.8938;p3_1000G_EUR_AF=0.8698;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234720734;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:502,45,0
chr2	233813822	rs77711235	G	A	87.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.752;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.757;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=-0.194;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77711235;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|25/41|c.2769+44G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=273;p3_1000G_AF=0.0545128;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22134;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234722468;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:99:116,0,310
chr2	233814452	rs11563239	G	T	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.879;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=-0.91;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11563239;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|25/41|c.2770-130G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=277;p3_1000G_AF=0.0553115;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22418;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234723098;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,21:31:99:638,0,301
chr2	233814480	rs11563238	G	A	783.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.409;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=1.42;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11563238;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|25/41|c.2770-102G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=279;p3_1000G_AF=0.0557109;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=22166;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234723126;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,27:45:99:812,0,518
chr2	233814497	rs74934066	C	G	1258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.648;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.75;ReadPosRankSum=0.02;SOR=0.711;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74934066;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|25/41|c.2770-85C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=277;p3_1000G_AF=0.0553115;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21632;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234723143;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,33:53:99:0|1:233814497_C_G:1287,0,892
chr2	233814505	rs79604842	G	T	1313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.44;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.79;ReadPosRankSum=-0.586;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79604842;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|25/41|c.2770-77G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=277;p3_1000G_AF=0.0553115;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21417;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234723151;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,34:53:99:0|1:233814497_C_G:1342,0,845
chr2	233816856	rs726016	T	C	314.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.62;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs726016;dbSNPBuildID=86;ANN=C|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|27/42|c.2941T>C|p.Trp981Arg|3034/5324|2941/5067|981/1688||;p3_1000G_AA=c|||;p3_1000G_AC=4151;p3_1000G_AF=0.828874;p3_1000G_AFR_AF=0.7859;p3_1000G_AMR_AF=0.7565;p3_1000G_AN=5008;p3_1000G_DP=19738;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.8499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234725502;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:343,33,0
chr2	233818604	rs719419	T	G	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.289;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.963;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.38;ReadPosRankSum=0.093;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs719419;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|28/41|c.3095-48T>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=2437;p3_1000G_AF=0.486621;p3_1000G_AFR_AF=0.2179;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=18902;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234727250;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,12:15:74:304,0,74
chr2	233818687	rs719418	C	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.414;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=1.1;SOR=0.982;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs719418;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|29/42|c.3130C>G|p.Gln1044Glu|3223/5324|3130/5067|1044/1688||;p3_1000G_AA=g|||;p3_1000G_AC=1432;p3_1000G_AF=0.285942;p3_1000G_AFR_AF=0.5446;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=20400;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234727333;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,10:33:99:255,0,669
chr2	233818832	rs6759919	A	G	320.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.478;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=0.415;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6759919;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|29/41|c.3213+62A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=1718;p3_1000G_AF=0.343051;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=18596;p3_1000G_EAS_AF=0.246;p3_1000G_EUR_AF=0.507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234727478;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:349,0,186
chr2	233819340	rs6754859	C	T	409.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.942;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.125;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-1.824;SOR=1.017;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6754859;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|30/42|c.3237C>T|p.Cys1079Cys|3330/5324|3237/5067|1079/1688||;p3_1000G_AA=c|||;p3_1000G_AC=2451;p3_1000G_AF=0.489417;p3_1000G_AFR_AF=0.2171;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=19956;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234727986;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7679;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,20:49:99:438,0,804
chr2	233819432	rs1500480	T	C	1638.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.13;SOR=0.732;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1500480;dbSNPBuildID=88;ANN=C|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|30/42|c.3329T>C|p.Phe1110Ser|3422/5324|3329/5067|1110/1688||;p3_1000G_AA=c|||;p3_1000G_AC=4136;p3_1000G_AF=0.825879;p3_1000G_AFR_AF=0.7867;p3_1000G_AMR_AF=0.7536;p3_1000G_AN=5008;p3_1000G_DP=19507;p3_1000G_EAS_AF=0.8929;p3_1000G_EUR_AF=0.836;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234728078;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8507;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1667,153,0
chr2	233822564	rs75177406	C	T	365.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.361;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-1.319;SOR=1.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75177406;dbSNPBuildID=131;ANN=T|stop_gained|HIGH|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|33/42|c.3883C>T|p.Arg1295*|3976/5324|3883/5067|1295/1688||;LOF=(MROH2A|MROH2A|1|1.00);NMD=(MROH2A|MROH2A|1|1.00);p3_1000G_AA=C|||;p3_1000G_AC=230;p3_1000G_AF=0.0459265;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18451;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234731210;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,15:23:99:394,0,214
chr2	233823671	rs11676792	A	G	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.193;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.453;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.133;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11676792;dbSNPBuildID=120;ANN=G|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|35/42|c.4144A>G|p.Met1382Val|4237/5324|4144/5067|1382/1688||;p3_1000G_AA=G|||;p3_1000G_AC=2965;p3_1000G_AF=0.592053;p3_1000G_AFR_AF=0.8964;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=16569;p3_1000G_EAS_AF=0.5456;p3_1000G_EUR_AF=0.4771;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234732317;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,16:29:99:403,0,325
chr2	233828399	rs626293	C	T	192.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs626293;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|35/41|c.4156-231C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=3111;p3_1000G_AF=0.621206;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=18238;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.5249;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234737045;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6922;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:221,18,0
chr2	233828629	rs52820200	G	C	455.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.203;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.281;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.6;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs52820200;dbSNPBuildID=128;ANN=C|splice_acceptor_variant&intron_variant|HIGH|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|35/41|c.4156-1G>C||||||;LOF=(MROH2A|MROH2A|1|1.00);p3_1000G_AA=g|||;p3_1000G_AC=239;p3_1000G_AF=0.0477236;p3_1000G_AFR_AF=0.0136;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=16477;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234737275;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,18:34:99:484,0,423
chr2	233828726	rs7564261	C	A	394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.326;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.415;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.823;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7564261;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|36/42|c.4252C>A|p.Arg1418Arg|4345/5324|4252/5067|1418/1688||;p3_1000G_AA=c|||;p3_1000G_AC=1324;p3_1000G_AF=0.264377;p3_1000G_AFR_AF=0.3707;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=16890;p3_1000G_EAS_AF=0.3472;p3_1000G_EUR_AF=0.2018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234737372;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,16:30:99:423,0,394
chr2	233829826	rs582432	G	A	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.132;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.83;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.731;SOR=0.273;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs582432;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|38/41|c.4644+51G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=3174;p3_1000G_AF=0.633786;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=19557;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.5109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234738472;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,17:33:99:434,0,505
chr2	233831490	rs879665	G	A	1609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.602;ClippingRankSum=0;DP=137;ExcessHet=3.0103;FS=4.062;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.757;SOR=0.961;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs879665;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|39/42|c.4726G>A|p.Ala1576Thr|4819/5324|4726/5067|1576/1688||;p3_1000G_AA=a|||;p3_1000G_AC=966;p3_1000G_AF=0.192891;p3_1000G_AFR_AF=0.264;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=18535;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.1352;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234740136;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:72,65:137:99:1638,0,1875
chr2	233832112	rs213547	A	G	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.417;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.346;SOR=0.97;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs213547;dbSNPBuildID=79;ANN=G|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.*5465T>C|||||4589|,G|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.*5465T>C|||||4589|,G|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.*5465T>C|||||4589|,G|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|39/41|c.4777-65A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2771;p3_1000G_AF=0.553315;p3_1000G_AFR_AF=0.615;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=19854;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234740758;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,11:27:99:245,0,428
chr2	233832151	rs76276350	C	CAAAA	538.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.641;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=-2.622;SOR=0.66;INS;HET;VARTYPE=INS;dbSNP138_ID=rs76276350;dbSNPBuildID=131;ANN=CAAAA|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.*5425_*5426insTTTT|||||4549|,CAAAA|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.*5425_*5426insTTTT|||||4549|,CAAAA|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.*5425_*5426insTTTT|||||4549|,CAAAA|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|39/41|c.4777-26_4777-25insAAAA||||||;p3_1000G_AC=2768;p3_1000G_AF=0.552716;p3_1000G_AFR_AF=0.6142;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=21486;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234740797;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,15:33:99:0|1:233832151_C_CAAAA:576,0,1115
chr2	233832152	rs3064782	T	A	547.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.739;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-2.451;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3064782;dbSNPBuildID=123;ANN=A|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.*5425A>T|||||4549|,A|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.*5425A>T|||||4549|,A|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.*5425A>T|||||4549|,A|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|39/41|c.4777-25T>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=2769;p3_1000G_AF=0.552915;p3_1000G_AFR_AF=0.6142;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=19981;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234740798;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,14:32:99:0|1:233832151_C_CAAAA:576,0,1115
chr2	233832341	rs658482	C	G	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.103;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.488;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-0.077;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs658482;dbSNPBuildID=83;ANN=G|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.*5236G>C|||||4360|,G|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.*5236G>C|||||4360|,G|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.*5236G>C|||||4360|,G|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|40/41|c.4879+62C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2783;p3_1000G_AF=0.555711;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=16991;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234740987;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,9:27:99:231,0,577
chr2	233832376	rs122856	T	C	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.032;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.123;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs122856;dbSNPBuildID=79;ANN=C|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.*5201A>G|||||4325|,C|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.*5201A>G|||||4325|,C|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.*5201A>G|||||4325|,C|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|40/41|c.4879+97T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=3090;p3_1000G_AF=0.617013;p3_1000G_AFR_AF=0.8502;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=16526;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234741022;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,8:24:99:0|1:233832376_T_C:285,0,1069
chr2	233832382	rs5839496	A	AG	250.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.476;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.153;SOR=0.693;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5839496;dbSNPBuildID=126;ANN=AG|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.*5194_*5195insC|||||4318|,AG|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.*5194_*5195insC|||||4318|,AG|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.*5194_*5195insC|||||4318|,AG|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|40/41|c.4879+103_4879+104insG||||||;p3_1000G_AA=-|-|G|insertion;p3_1000G_AC=2779;p3_1000G_AF=0.554912;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=16762;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234741028;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,8:24:99:0|1:233832376_T_C:288,0,1034
chr2	233832755	rs2270854	C	T	42.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270854;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.*4822G>A|||||3946|,T|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.*4822G>A|||||3946|,T|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.*4822G>A|||||3946|,T|intron_variant|MODIFIER|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|41/41|c.4945+111C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=487;p3_1000G_AF=0.0972444;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=15481;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234741401;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0787;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:1,3:4:15:0|1:233832755_C_T:71,0,15
chr2	233833162	rs2270856	C	T	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.747;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.569;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270856;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|MROH2A|MROH2A|transcript|NM_001287395.1|protein_coding|42/42|c.4970C>T|p.Pro1657Leu|5063/5324|4970/5067|1657/1688||,T|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.*4415G>A|||||3539|,T|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.*4415G>A|||||3539|,T|downstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.*4415G>A|||||3539|;p3_1000G_AA=c|||;p3_1000G_AC=496;p3_1000G_AF=0.0990415;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=16099;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234741808;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,21:37:99:499,0,402
chr2	233840505	rs213555	C	T	673.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs213555;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding|8/8|c.2171+104G>A||||||,T|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|6/6|c.2009+104G>A||||||,T|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|5/5|c.1916+104G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3449;p3_1000G_AF=0.688698;p3_1000G_AFR_AF=0.9092;p3_1000G_AMR_AF=0.5202;p3_1000G_AN=5008;p3_1000G_DP=21243;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234749151;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:65:702,65,0
chr2	233841076	rs3771333	T	G	702.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.924;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.386;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.224;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3771333;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|HJURP|HJURP|transcript|NM_018410.4|protein_coding|8/9|c.1704A>C|p.Glu568Asp|1770/3189|1704/2247|568/748||,G|missense_variant|MODERATE|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|6/7|c.1542A>C|p.Glu514Asp|1608/3027|1542/2085|514/694||,G|missense_variant|MODERATE|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|5/6|c.1449A>C|p.Glu483Asp|1515/2934|1449/1992|483/663||;p3_1000G_AA=t|||;p3_1000G_AC=174;p3_1000G_AF=0.0347444;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19907;p3_1000G_EAS_AF=0.1111;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234749722;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=155,4251;ESP6500_AA_AGE=106.0+/-144.5;ESP6500_AA_GTC=3,149,2051;ESP6500_CDS_SIZES=NM_018410.3:2247;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=100;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018410.3:missense;ESP6500_GL=HJURP;ESP6500_GRCh38_POSITION=2:233841076;ESP6500_GS=45;ESP6500_GTC=3,151,6349;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_018410.3:c.1704A>C;ESP6500_HGVS_PROTEIN_VAR=NM_018410.3:p.(E568D);ESP6500_MAF=0.0233,3.5179,1.2071;ESP6500_PH=benign:0.011;ESP6500_TAC=157,12849	GT:AD:DP:GQ:PL	0/1:23,27:50:99:731,0,693
chr2	233842185	rs3806589	T	C	634.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.09;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.528;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.095;SOR=0.328;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806589;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|HJURP|HJURP|transcript|NM_018410.4|protein_coding|8/9|c.595A>G|p.Arg199Gly|661/3189|595/2247|199/748||,C|missense_variant|MODERATE|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|6/7|c.433A>G|p.Arg145Gly|499/3027|433/2085|145/694||,C|missense_variant|MODERATE|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|5/6|c.340A>G|p.Arg114Gly|406/2934|340/1992|114/663||;p3_1000G_AA=C|||;p3_1000G_AC=3564;p3_1000G_AF=0.711661;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=21479;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.6093;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234750831;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3462,944;ESP6500_AA_AGE=355.9+/-313.2;ESP6500_AA_GTC=1362,738,103;ESP6500_CDS_SIZES=NM_018410.3:2247;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=62;ESP6500_EA_AC=5211,3389;ESP6500_EA_AGE=498.2+/-374.7;ESP6500_EA_GTC=1577,2057,666;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018410.3:missense;ESP6500_GL=HJURP;ESP6500_GRCh38_POSITION=2:233842185;ESP6500_GS=125;ESP6500_GTC=2939,2795,769;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018410.3:c.595A>G;ESP6500_HGVS_PROTEIN_VAR=NM_018410.3:p.(R199G);ESP6500_MAF=39.407,21.4253,33.3154;ESP6500_PH=benign:0.0;ESP6500_TAC=8673,4333	GT:AD:DP:GQ:PL	0/1:27,27:54:99:663,0,726
chr2	233844362	rs169925	G	A	398.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.231;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=5.361;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=1.11;SOR=0.181;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs169925;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding|6/8|c.496-79C>T||||||,A|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|4/6|c.334-79C>T||||||,A|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|3/5|c.241-79C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3417;p3_1000G_AF=0.682308;p3_1000G_AFR_AF=0.7874;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=22677;p3_1000G_EAS_AF=0.7163;p3_1000G_EUR_AF=0.6928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234753008;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,18:47:99:427,0,944
chr2	233845627	rs2302156	T	C	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.501;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.18;ReadPosRankSum=-1.306;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302156;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding|6/8|c.495+101A>G||||||,C|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|4/6|c.333+101A>G||||||,C|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|3/5|c.241-1344A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2639;p3_1000G_AF=0.526957;p3_1000G_AFR_AF=0.379;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=20088;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.6899;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234754273;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:60:60,0,208
chr2	233849854	rs529963	G	A	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.717;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.412;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.702;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs529963;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|HJURP|HJURP|transcript|NM_018410.4|protein_coding|4/9|c.246C>T|p.Ser82Ser|312/3189|246/2247|82/748||,A|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|3/6|c.240+2711C>T||||||,A|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|3/5|c.240+2711C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=903;p3_1000G_AF=0.180312;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=17025;p3_1000G_EAS_AF=0.1448;p3_1000G_EUR_AF=0.174;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234758500;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1080,3164;ESP6500_AA_GTC=148,784,1190;ESP6500_CDS_SIZES=NM_018410.3:2247;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=23;ESP6500_EA_AC=1316,6948;ESP6500_EA_GTC=111,1094,2927;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018410.3:coding-synonymous;ESP6500_GL=HJURP;ESP6500_GRCh38_POSITION=2:233849854;ESP6500_GTC=259,1878,4117;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_018410.3:c.246C>T;ESP6500_HGVS_PROTEIN_VAR=NM_018410.3:p.(S82);ESP6500_MAF=15.9245,25.4477,19.1557;ESP6500_TAC=2396,10112	GT:AD:DP:GQ:PL	0/1:15,16:31:99:398,0,428
chr2	233849968	rs693637	A	G	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.869;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.765;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs693637;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding|3/8|c.241-109T>C||||||,G|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|3/6|c.240+2597T>C||||||,G|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|3/5|c.240+2597T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=909;p3_1000G_AF=0.18151;p3_1000G_AFR_AF=0.2784;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=19193;p3_1000G_EAS_AF=0.1478;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234758614;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,7:12:99:185,0,164
chr2	233852709	rs554699	G	A	314.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.789;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=4.925;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.206;SOR=0.138;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs554699;dbSNPBuildID=83;ANN=A|sequence_feature|LOW|HJURP|HJURP|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_018410.4|protein_coding|2/8|c.185-89C>T||||||,A|sequence_feature|LOW|HJURP|HJURP|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001282962.1|protein_coding|2/6|c.185-89C>T||||||,A|sequence_feature|LOW|HJURP|HJURP|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001282963.1|protein_coding|2/5|c.185-89C>T||||||,A|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding|2/8|c.185-89C>T||||||,A|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|2/6|c.185-89C>T||||||,A|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|2/5|c.185-89C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2801;p3_1000G_AF=0.559305;p3_1000G_AFR_AF=0.3336;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=19437;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.6889;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234761355;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,12:25:99:343,0,410
chr2	233853834	rs626110	A	T	774.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.28;SOR=0.702;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs626110;dbSNPBuildID=83;ANN=T|sequence_feature|LOW|HJURP|HJURP|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_018410.4|protein_coding|2/8|c.184+10T>A||||||,T|sequence_feature|LOW|HJURP|HJURP|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001282962.1|protein_coding|2/6|c.184+10T>A||||||,T|sequence_feature|LOW|HJURP|HJURP|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001282963.1|protein_coding|2/5|c.184+10T>A||||||,T|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding|2/8|c.184+10T>A||||||,T|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding|2/6|c.184+10T>A||||||,T|intron_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding|2/5|c.184+10T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2619;p3_1000G_AF=0.522963;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=18002;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.6859;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234762480;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1832,2574;ESP6500_AA_AGE=637.1+/-396.7;ESP6500_AA_GTC=384,1064,755;ESP6500_CDS_SIZES=NM_018410.3:2247;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=180;ESP6500_EA_AC=5866,2734;ESP6500_EA_AGE=437.0+/-358.5;ESP6500_EA_GTC=2005,1856,439;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018410.3:intron;ESP6500_GL=HJURP;ESP6500_GRCh38_POSITION=2:233853834;ESP6500_GTC=2389,2920,1194;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_018410.3:c.184+10T>A;ESP6500_MAF=31.7907,41.5797,40.8119;ESP6500_TAC=7698,5308	GT:AD:DP:GQ:PL	0/1:37,35:72:99:803,0,912
chr2	233854580	rs503913	C	T	467.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.666;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.421;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.631;SOR=0.351;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs503913;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_018410.4|protein_coding||c.-80G>A|||||14|,T|upstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282962.1|protein_coding||c.-80G>A|||||14|,T|upstream_gene_variant|MODIFIER|HJURP|HJURP|transcript|NM_001282963.1|protein_coding||c.-80G>A|||||14|,T|intergenic_region|MODIFIER|HJURP-MSL3P1|HJURP-MSL3P1|intergenic_region|HJURP-MSL3P1|||n.233854580C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2998;p3_1000G_AF=0.598642;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.6931;p3_1000G_AN=5008;p3_1000G_DP=16236;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.6829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234763226;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4949;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,21:36:99:496,0,426
chr2	233926525	rs11563220	C	T	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.126;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=4.108;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.828;SOR=1.315;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11563220;dbSNPBuildID=120;ANN=T|splice_region_variant&intron_variant|LOW|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|1/25|c.-5-8C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=775;p3_1000G_AF=0.154752;p3_1000G_AFR_AF=0.2519;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=20779;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234835170;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=858,3548;ESP6500_AA_AGE=337.8+/-305.0;ESP6500_AA_GTC=83,692,1428;ESP6500_CDS_SIZES=NM_024080.4:3315;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=104;ESP6500_EA_AC=21,8579;ESP6500_EA_AGE=15.3+/-51.7;ESP6500_EA_GTC=0,21,4279;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024080.4:intron;ESP6500_GL=TRPM8;ESP6500_GRCh38_POSITION=2:233926525;ESP6500_GTC=83,713,5707;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024080.4:c.-13C>T;ESP6500_MAF=0.2442,19.4734,6.7584;ESP6500_TAC=879,12127	GT:AD:DP:GQ:PL	0/1:29,21:50:99:502,0,743
chr2	233926795	rs11563219	T	C	474.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.45;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11563219;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|2/25|c.117+141T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=953;p3_1000G_AF=0.190296;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.0187;p3_1000G_AN=5008;p3_1000G_DP=24489;p3_1000G_EAS_AF=0.3512;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234835440;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:503,39,0
chr2	233937554	rs1019103	G	A	1035.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=3.193;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1019103;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|4/25|c.348+45G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=23533;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234846198;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:98:1064,98,0
chr2	233938929	rs9646720	A	G	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.548;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9646720;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|4/25|c.349-69A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=1665;p3_1000G_AF=0.332468;p3_1000G_AFR_AF=0.3971;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=12542;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.172;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234847573;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:214,0,279
chr2	233939179	rs2302153	A	C	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.733;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=0.558;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302153;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|5/25|c.526+4A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1758;p3_1000G_AF=0.351038;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=14362;p3_1000G_EAS_AF=0.4187;p3_1000G_EUR_AF=0.1789;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234847823;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1879,2527;ESP6500_AA_GTC=409,1061,733;ESP6500_CDS_SIZES=NM_024080.4:3315;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=1822,6778;ESP6500_EA_GTC=181,1460,2659;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024080.4:intron;ESP6500_GL=TRPM8;ESP6500_GRCh38_POSITION=2:233939179;ESP6500_GTC=590,2521,3392;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_024080.4:c.526+4A>C;ESP6500_MAF=21.186,42.6464,28.4561;ESP6500_TAC=3701,9305	GT:AD:DP:GQ:PL	0/1:18,10:28:99:203,0,509
chr2	233945906	rs11562975	G	C	1110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.537;ClippingRankSum=0;DP=122;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.754;SOR=0.753;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11562975;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|7/26|c.750G>C|p.Leu250Leu|790/5621|750/3315|250/1104||;p3_1000G_AA=G|||;p3_1000G_AC=651;p3_1000G_AF=0.129992;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=21893;p3_1000G_EAS_AF=0.2093;p3_1000G_EUR_AF=0.0835;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234854550;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.227;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=150,4256;ESP6500_AA_AGE=103.8+/-142.4;ESP6500_AA_GTC=4,142,2057;ESP6500_CDS_SIZES=NM_024080.4:3315;ESP6500_CG=0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=131;ESP6500_EA_AC=839,7761;ESP6500_EA_AGE=193.7+/-239.3;ESP6500_EA_GTC=39,761,3500;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024080.4:coding-synonymous;ESP6500_GL=TRPM8;ESP6500_GRCh38_POSITION=2:233945906;ESP6500_GTC=43,903,5557;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_024080.4:c.750G>C;ESP6500_HGVS_PROTEIN_VAR=NM_024080.4:p.(L250);ESP6500_MAF=9.7558,3.4044,7.6042;ESP6500_TAC=989,12017	GT:AD:DP:GQ:PL	0/1:74,48:122:99:1139,0,2112
chr2	233950157	rs11563217	G	A	1137.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.086;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=0.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.433;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11563217;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|9/25|c.1140+11G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=449;p3_1000G_AF=0.0896565;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=20551;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234858801;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1922;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=119,4287;ESP6500_AA_AGE=86.3+/-125.0;ESP6500_AA_GTC=2,115,2086;ESP6500_CDS_SIZES=NM_024080.4:3315;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=37;ESP6500_EA_AC=16,8584;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=0,16,4284;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024080.4:intron;ESP6500_GL=TRPM8;ESP6500_GRCh38_POSITION=2:233950157;ESP6500_GTC=2,131,6370;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024080.4:c.1140+11G>A;ESP6500_MAF=0.186,2.7009,1.038;ESP6500_TAC=135,12871	GT:AD:DP:GQ:PL	0/1:33,43:76:99:1166,0,837
chr2	233955144	rs7593557	G	A	819.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.276;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.247;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=1.51;SOR=0.394;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7593557;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|11/26|c.1256G>A|p.Ser419Asn|1296/5621|1256/3315|419/1104||;p3_1000G_AA=A|||;p3_1000G_AC=1725;p3_1000G_AF=0.344449;p3_1000G_AFR_AF=0.6362;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=21237;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.0527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234863788;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2336,2070;ESP6500_AA_AGE=569.8+/-382.7;ESP6500_AA_GTC=617,1102,484;ESP6500_CDS_SIZES=NM_024080.4:3315;ESP6500_CG=6.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=87;ESP6500_EA_AC=499,8101;ESP6500_EA_AGE=797.0+/-407.5;ESP6500_EA_GTC=14,471,3815;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024080.4:missense;ESP6500_GL=TRPM8;ESP6500_GRCh38_POSITION=2:233955144;ESP6500_GS=46;ESP6500_GTC=631,1573,4299;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024080.4:c.1256G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024080.4:p.(S419N);ESP6500_MAF=5.8023,46.9814,21.7976;ESP6500_PH=benign:0.0;ESP6500_TAC=2835,10171	GT:AD:DP:GQ:PL	0/1:26,34:60:99:848,0,704
chr2	233960714	rs11563212	T	C	537.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.23;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=1.27;SOR=0.449;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11563212;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|11/25|c.1363-62T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=589;p3_1000G_AF=0.117612;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=20553;p3_1000G_EAS_AF=0.1369;p3_1000G_EUR_AF=0.0855;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234869358;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,19:38:99:566,0,569
chr2	233964792	rs28902176	G	T	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.299;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.1;SOR=1.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28902176;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|14/25|c.1879+35G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=605;p3_1000G_AF=0.120807;p3_1000G_AFR_AF=0.1467;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=13760;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234873436;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1748;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=540,3866;ESP6500_AA_AGE=242.1+/-252.3;ESP6500_AA_GTC=32,476,1695;ESP6500_CDS_SIZES=NM_024080.4:3315;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=51;ESP6500_EA_AC=20,8580;ESP6500_EA_AGE=14.6+/-50.1;ESP6500_EA_GTC=0,20,4280;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024080.4:intron;ESP6500_GL=TRPM8;ESP6500_GRCh38_POSITION=2:233964792;ESP6500_GTC=32,496,5975;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_024080.4:c.1879+35G>T;ESP6500_MAF=0.2326,12.256,4.3057;ESP6500_TAC=560,12446	GT:AD:DP:GQ:PL	0/1:6,7:13:99:188,0,169
chr2	233969617	rs6760498	G	A	280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.654;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.326;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6760498;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|15/25|c.2026-78G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2043;p3_1000G_AF=0.407947;p3_1000G_AFR_AF=0.5976;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=18895;p3_1000G_EAS_AF=0.6002;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234878261;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:309,0,305
chr2	233980077	rs6736916	C	T	160.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6736916;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|17/25|c.2356-111C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2249;p3_1000G_AF=0.449081;p3_1000G_AFR_AF=0.4909;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=19973;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234888721;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:189,15,0
chr2	233981747	rs6708995	G	T	815.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6708995;dbSNPBuildID=116;ANN=T|sequence_feature|LOW|TRPM8|TRPM8|topological-domain:Cytoplasmic|NM_024080.4|protein_coding|18/25|c.2448-27G>T||||||,T|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|18/25|c.2448-27G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2240;p3_1000G_AF=0.447284;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=19311;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.5278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234890391;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2148,2258;ESP6500_AA_AGE=578.1+/-384.6;ESP6500_AA_GTC=507,1134,562;ESP6500_CDS_SIZES=NM_024080.4:3315;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=111;ESP6500_EA_AC=4151,4449;ESP6500_EA_AGE=563.9+/-388.2;ESP6500_EA_GTC=1003,2145,1152;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024080.4:intron;ESP6500_GL=TRPM8;ESP6500_GRCh38_POSITION=2:233981747;ESP6500_GTC=1510,3279,1714;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_024080.4:c.2448-27G>T;ESP6500_MAF=48.2674,48.7517,48.4315;ESP6500_TAC=6299,6707	GT:AD:DP:GQ:PL	1/1:0,24:24:72:844,72,0
chr2	233983483	rs4663995	T	C	539.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.74;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4663995;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|20/25|c.2761+259T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3377;p3_1000G_AF=0.674321;p3_1000G_AFR_AF=0.7375;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=20908;p3_1000G_EAS_AF=0.5893;p3_1000G_EUR_AF=0.839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234892127;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4888;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:568,48,0
chr2	234008127	rs770041648	A	AT	92.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=0.254;SOR=0.582;INS;HET;VARTYPE=INS;dbSNP138_ID=rs11450151;dbSNPBuildID=144;ANN=AT|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|24/25|c.3264+39dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:25,11:36:99:130,0,547
chr2	234008187	rs6734618	A	G	1105.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.56;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6734618;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|24/25|c.3264+84A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3781;p3_1000G_AF=0.754992;p3_1000G_AFR_AF=0.8555;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=16481;p3_1000G_EAS_AF=0.8075;p3_1000G_EUR_AF=0.669;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234916831;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1125,259;ESP6500_AA_GTC=457,211,24;ESP6500_CDS_SIZES=NM_024080.4:3315;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=69;ESP6500_EA_AC=2180,998;ESP6500_EA_GTC=760,660,169;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024080.4:intron;ESP6500_GL=TRPM8;ESP6500_GRCh38_POSITION=2:234008187;ESP6500_GTC=1217,871,193;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024080.4:c.3264+84A>G;ESP6500_MAF=31.4034,18.7139,27.5537;ESP6500_TAC=3305,1257	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1134,96,0
chr2	234008190	rs28902234	A	G	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.45;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=0.37;SOR=0.937;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28902234;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|24/25|c.3264+87A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=255;p3_1000G_AF=0.0509185;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=16716;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.0139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234916834;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,12:32:99:285,0,468
chr2	234014480	rs3732214	A	C	83.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.355;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732214;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|24/25|c.3265-82A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=951;p3_1000G_AF=0.189896;p3_1000G_AFR_AF=0.3245;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=15206;p3_1000G_EAS_AF=0.1835;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234923124;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:112,0,106
chr2	234017364	rs28902237	C	T	682.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.02;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=5.208;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.604;SOR=0.664;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28902237;dbSNPBuildID=125;ANN=T|3_prime_UTR_variant|MODIFIER|TRPM8|TRPM8|transcript|NM_024080.4|protein_coding|26/26|c.*108C>T|||||2752|;p3_1000G_AA=C|||;p3_1000G_AC=253;p3_1000G_AF=0.0505192;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=20232;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0.0139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234926008;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,29:59:99:711,0,764
chr2	234050993	rs115788299	T	A	1963.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=1.812;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs115788299;dbSNPBuildID=132;ANN=A|missense_variant|MODERATE|SPP2|SPP2|transcript|NM_006944.2|protein_coding|2/8|c.108T>A|p.Asp36Glu|193/1019|108/636|36/211||;p3_1000G_AA=T|||;p3_1000G_AC=159;p3_1000G_AF=0.0317492;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19501;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234959637;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_006944.2:636;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=128;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006944.2:missense;ESP6500_GL=SPP2;ESP6500_GRCh38_POSITION=2:234050993;ESP6500_GS=45;ESP6500_GTC=0,2,6501;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_006944.2:c.108T>A;ESP6500_HGVS_PROTEIN_VAR=NM_006944.2:p.(D36E);ESP6500_MAF=0.0233,0.0,0.0154;ESP6500_PH=possibly-damaging:0.896;ESP6500_TAC=2,13004	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1992,180,0
chr2	234058766	rs17865708	G	A	534.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17865708;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|SPP2|SPP2|transcript|NM_006944.2|protein_coding|2/7|c.211-70G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1037;p3_1000G_AF=0.207069;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=22107;p3_1000G_EAS_AF=0.1528;p3_1000G_EUR_AF=0.0686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234967410;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:563,48,0
chr2	234058895	rs593668	T	A	838.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.92;SOR=0.906;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs593668;dbSNPBuildID=83;ANN=A|synonymous_variant|LOW|SPP2|SPP2|transcript|NM_006944.2|protein_coding|3/8|c.270T>A|p.Thr90Thr|355/1019|270/636|90/211||;p3_1000G_AA=T|||;p3_1000G_AC=3458;p3_1000G_AF=0.690495;p3_1000G_AFR_AF=0.6097;p3_1000G_AMR_AF=0.6772;p3_1000G_AN=5008;p3_1000G_DP=20784;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.7187;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234967539;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2722,1684;ESP6500_AA_AGE=655.5+/-399.9;ESP6500_AA_GTC=856,1010,337;ESP6500_CDS_SIZES=NM_006944.2:636;ESP6500_CG=-8.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=112;ESP6500_EA_AC=6202,2398;ESP6500_EA_AGE=700.9+/-405.2;ESP6500_EA_GTC=2213,1776,311;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006944.2:coding-synonymous;ESP6500_GL=SPP2;ESP6500_GRCh38_POSITION=2:234058895;ESP6500_GTC=3069,2786,648;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_006944.2:c.270T>A;ESP6500_HGVS_PROTEIN_VAR=NM_006944.2:p.(T90);ESP6500_MAF=27.8837,38.2206,31.3855;ESP6500_TAC=8924,4082	GT:AD:DP:GQ:PL	1/1:0,29:29:87:867,87,0
chr2	234060510	rs17869099	C	T	2446.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=78;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.37;SOR=1.409;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17869099;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|SPP2|SPP2|transcript|NM_006944.2|protein_coding|4/7|c.444+31C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=776;p3_1000G_AF=0.154952;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=17978;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.0666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=234969154;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1296,3110;ESP6500_AA_AGE=430.6+/-342.6;ESP6500_AA_GTC=200,896,1107;ESP6500_CDS_SIZES=NM_006944.2:636;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=33;ESP6500_EA_AC=621,7979;ESP6500_EA_AGE=159.4+/-212.7;ESP6500_EA_GTC=24,573,3703;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006944.2:intron;ESP6500_GL=SPP2;ESP6500_GRCh38_POSITION=2:234060510;ESP6500_GTC=224,1469,4810;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006944.2:c.444+31C>T;ESP6500_MAF=7.2209,29.4144,14.7394;ESP6500_TAC=1917,11089	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2475,234,0
chr2	235524517	rs62191529	G	A	379.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.833;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=4.457;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.016;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62191529;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|1/17|c.163+29668G>A||||||,A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001244888.1|protein_coding|1/9|c.163+29668G>A||||||,A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|1/16|c.163+29668G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2135;p3_1000G_AF=0.426318;p3_1000G_AFR_AF=0.2466;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=14865;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.494;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236433161;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,17:41:99:408,0,643
chr2	235524687	rs11689907	T	C	239.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11689907;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|1/17|c.163+29838T>C||||||,C|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001244888.1|protein_coding|1/9|c.163+29838T>C||||||,C|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|1/16|c.163+29838T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3893;p3_1000G_AF=0.777356;p3_1000G_AFR_AF=0.5787;p3_1000G_AMR_AF=0.8458;p3_1000G_AN=5008;p3_1000G_DP=15782;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.7853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236433331;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8558;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:268,24,0
chr2	235670673	rs13014733	G	A	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.808;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.32;ReadPosRankSum=0.889;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13014733;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|1/17|c.164-38506G>A||||||,A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001244888.1|protein_coding|1/9|c.164-38506G>A||||||,A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|1/16|c.164-38506G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=958;p3_1000G_AF=0.191294;p3_1000G_AFR_AF=0.0522;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=5892;p3_1000G_EAS_AF=0.3343;p3_1000G_EUR_AF=0.2058;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236579317;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,10:31:99:224,0,510
chr2	235797968	rs140030205;rs555267293	A	AT	545.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.29;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs140030205;dbSNPBuildID=142,134;ANN=AT|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|7/17|c.801+92dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001244888.1|protein_coding|7/9|c.801+92dupT||||||INFO_REALIGN_3_PRIME,AT|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|7/16|c.801+92dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=949;p3_1000G_AF=0.189497;p3_1000G_AFR_AF=0.053;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=21948;p3_1000G_EAS_AF=0.2609;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236706612;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,20:20:65:583,65,0
chr2	235799252	rs2292707	C	T	1400.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292707;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|7/17|c.802-115C>T||||||,T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001244888.1|protein_coding|7/9|c.802-115C>T||||||,T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|7/16|c.802-115C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1426;p3_1000G_AF=0.284744;p3_1000G_AFR_AF=0.3298;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=19507;p3_1000G_EAS_AF=0.3105;p3_1000G_EUR_AF=0.2644;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236707896;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1115;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1429,129,0
chr2	235799522	rs2292708	C	T	2830.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.77;SOR=1.095;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2292708;dbSNPBuildID=100;ANN=T|splice_region_variant&synonymous_variant|LOW|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|8/18|c.957C>T|p.Thr319Thr|1555/10850|957/2574|319/857||,T|splice_region_variant&synonymous_variant|LOW|AGAP1|AGAP1|transcript|NM_001244888.1|protein_coding|8/10|c.957C>T|p.Thr319Thr|1555/2165|957/1218|319/405||,T|splice_region_variant&synonymous_variant|LOW|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|8/17|c.957C>T|p.Thr319Thr|1555/10691|957/2415|319/804||;p3_1000G_AA=C|||;p3_1000G_AC=960;p3_1000G_AF=0.191693;p3_1000G_AFR_AF=0.0295;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=18911;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.2624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236708166;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=293,4113;ESP6500_AA_AGE=159.6+/-192.1;ESP6500_AA_GTC=14,265,1924;ESP6500_CDS_SIZES=NM_014914.4:2415,NM_001244888.1:1218,NM_001037131.2:2574;ESP6500_CG=-2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=2504,6096;ESP6500_EA_AGE=412.1+/-350.7;ESP6500_EA_GTC=374,1756,2170;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014914.4:coding-synonymous-near-splice,NM_001244888.1:coding-synonymous-near-splice,NM_001037131.2:coding-synonymous-near-splice;ESP6500_GL=AGAP1;ESP6500_GRCh38_POSITION=2:235799522;ESP6500_GTC=388,2021,4094;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014914.4:c.957C>T,NM_001244888.1:c.957C>T,NM_001037131.2:c.957C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014914.4:p.(T319),NM_001244888.1:p.(T319),NM_001037131.2:p.(T319);ESP6500_MAF=29.1163,6.65,21.5055;ESP6500_TAC=2797,10209	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2859,276,0
chr2	235852752	rs13006916	C	T	1148.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.72;SOR=1.151;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13006916;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|AGAP1|AGAP1|transcript|NM_001244888.1|protein_coding|10/10|c.1117C>T|p.Arg373Cys|1715/2165|1117/1218|373/405||,T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|9/17|c.1051-30593C>T||||||,T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|9/16|c.1051-30593C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2402;p3_1000G_AF=0.479633;p3_1000G_AFR_AF=0.0968;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=15278;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.5179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236761396;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1177,120,0
chr2	235908692	rs397843744;rs57795387;rs8178997;rs879061290	CT	C	17.8	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.727;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=-0.429;SOR=0.412;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs57795387,rs8178997;dbSNPBuildID=137,147,138,129;ANN=C|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|10/17|c.1156-32delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|10/16|c.1156-32delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:28,6:34:55:55,0,614
chr2	235908985	rs4663215	C	T	2490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.29;SOR=2.336;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4663215;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|11/17|c.1324+79C>T||||||,T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|11/16|c.1324+79C>T||||||	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2519,213,0
chr2	235968422	rs35278826;rs754654772	AT	A	84.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.41;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.03;ReadPosRankSum=-0.853;SOR=1.112;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35278826;dbSNPBuildID=144,137;ANN=A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|12/17|c.1484-23delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|11/16|c.1325-23delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:14,7:21:99:122,0,274
chr2	236049178	rs2034648	G	A	2170.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.89;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2034648;dbSNPBuildID=94;ANN=A|missense_variant|MODERATE|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|16/18|c.2011G>A|p.Val671Ile|2609/10850|2011/2574|671/857||,A|missense_variant|MODERATE|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|15/17|c.1852G>A|p.Val618Ile|2450/10691|1852/2415|618/804||;p3_1000G_AA=A|||;p3_1000G_AC=3458;p3_1000G_AF=0.690495;p3_1000G_AFR_AF=0.9372;p3_1000G_AMR_AF=0.7219;p3_1000G_AN=5008;p3_1000G_DP=19113;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.5119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=236957822;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4796;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3804,602;ESP6500_AA_AGE=264.4+/-266.0;ESP6500_AA_GTC=1647,510,46;ESP6500_CDS_SIZES=NM_014914.4:2415,NM_001037131.2:2574;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=113;ESP6500_EA_AC=4439,4161;ESP6500_EA_AGE=566.0+/-388.6;ESP6500_EA_GTC=1157,2125,1018;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014914.4:missense,NM_001037131.2:missense;ESP6500_GL=AGAP1;ESP6500_GRCh38_POSITION=2:236049178;ESP6500_GS=29,29;ESP6500_GTC=2804,2635,1064;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014914.4:c.1852G>A,NM_001037131.2:c.2011G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014914.4:p.(V618I),NM_001037131.2:p.(V671I);ESP6500_MAF=48.3837,13.6632,36.6216;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8243,4763	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2199,198,0
chr2	236120460	rs2278884	C	T	1117.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.046;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=1.776;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.256;SOR=0.943;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278884;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|17/17|c.2370+13C>T||||||,T|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|16/16|c.2211+13C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1346;p3_1000G_AF=0.26877;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=17338;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.2952;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237029104;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=746,3530;ESP6500_AA_GTC=67,612,1459;ESP6500_CDS_SIZES=NM_014914.4:2415,NM_001037131.2:2574;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=31;ESP6500_EA_AC=2440,5974;ESP6500_EA_GTC=387,1666,2154;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014914.4:intron,NM_001037131.2:intron;ESP6500_GL=AGAP1;ESP6500_GRCh38_POSITION=2:236120460;ESP6500_GTC=454,2278,3613;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014914.4:c.2211+13C>T,NM_001037131.2:c.2370+13C>T;ESP6500_MAF=28.9993,17.4462,25.1064;ESP6500_TAC=3186,9504	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1146,0,1007
chr2	236120519	rs13021559	G	A	805.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.25;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.33;SOR=0.573;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13021559;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|17/17|c.2370+72G>A||||||,A|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|16/16|c.2211+72G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=228;p3_1000G_AF=0.0455272;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=18176;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.1193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237029163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,34:68:99:834,0,888
chr2	236123703	rs35859488	T	TG	171.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.5;SOR=1.609;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35859488;dbSNPBuildID=126;ANN=TG|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_001037131.2|protein_coding|17/17|c.2371-215dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|AGAP1|AGAP1|transcript|NM_014914.4|protein_coding|16/16|c.2212-215dupG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,7:15:99:209,0,234
chr2	236238000	rs199742897;rs529758359;rs72060634;rs775503490	TGTG	T	431.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.89;SOR=1.27;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs72060634,rs199742897;dbSNPBuildID=135,144,137,142;ANN=T|intron_variant|MODIFIER|ASB18|ASB18|transcript|NM_212556.2|protein_coding|2/5|c.329-47_329-45delCAC||||||;p3_1000G_AC=1885;p3_1000G_AF=0.376398;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.4582;p3_1000G_AN=5008;p3_1000G_DP=12764;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237146643;p3_1000G_GRCH37_REF=TGTG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4397;p3_1000G_VT=INDEL;ESP6500_AA_AC=274,2704;ESP6500_AA_GTC=64,146,1279;ESP6500_CDS_SIZES=NM_212556.2:1401;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=4;ESP6500_EA_AC=2738,2952;ESP6500_EA_GTC=914,910,1021;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_212556.2:intron;ESP6500_GL=ASB18;ESP6500_GRCh38_POSITION=2:236238000;ESP6500_GTC=978,1056,2300;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_212556.2:c.329-47_329-45del3;ESP6500_MAF=48.1195,9.2008,34.7485;ESP6500_TAC=3012,5656	GT:AD:DP:GQ:PL	1/1:0,11:11:33:469,33,0
chr2	236241298	rs6756597	C	T	848.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.29;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6756597;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|ASB18|ASB18|transcript|NM_212556.2|protein_coding|2/6|c.310G>A|p.Ala104Thr|310/1401|310/1401|104/466||;p3_1000G_AA=C|||;p3_1000G_AC=2216;p3_1000G_AF=0.442492;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=17421;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.508;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237149941;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4141;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1127,2687;ESP6500_AA_GTC=158,811,938;ESP6500_CDS_SIZES=NM_212556.2:1401;ESP6500_CG=4.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=123;ESP6500_EA_AC=3962,4280;ESP6500_EA_GTC=948,2066,1107;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_212556.2:missense;ESP6500_GL=ASB18;ESP6500_GRCh38_POSITION=2:236241298;ESP6500_GS=58;ESP6500_GTC=1106,2877,2045;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_212556.2:c.310G>A;ESP6500_HGVS_PROTEIN_VAR=NM_212556.2:p.(A104T);ESP6500_MAF=48.0709,29.549,42.2113;ESP6500_PH=possibly-damaging:0.76;ESP6500_TAC=5089,6967	GT:AD:DP:GQ:PL	1/1:0,30:30:90:877,90,0
chr2	236497123	rs72115270	CAAA	C	328.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.05;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.29;ReadPosRankSum=-0.592;SOR=0.593;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72115270;dbSNPBuildID=137;ANN=C|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_001270585.1|protein_coding|2/18|c.357+37_357+39delTTT||||||,C|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_001270584.1|protein_coding|2/17|c.336+37_336+39delTTT||||||,C|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_024726.4|protein_coding|2/18|c.336+37_336+39delTTT||||||,C|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NR_073043.1|pseudogene|2/19|n.604+37_604+39delTTT||||||;ESP6500_AA_AC=2246,1350;ESP6500_AA_GTC=736,774,288;ESP6500_CDS_SIZES=NM_024726.3:2469;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=10;ESP6500_EA_AC=221,7595;ESP6500_EA_GTC=21,179,3708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024726.3:intron;ESP6500_GL=IQCA1;ESP6500_GRCh38_POSITION=2:236497123;ESP6500_GTC=757,953,3996;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024726.3:c.336+37_336+39del3;ESP6500_MAF=2.8275,37.5417,21.6176;ESP6500_TAC=2467,8945	GT:AD:DP:GQ:PL	0/1:4,9:13:99:366,0,167
chr2	236503756	rs4427967	A	G	756.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.192;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.132;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4427967;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_001270585.1|protein_coding||c.-94T>C|||||59|,G|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_001270584.1|protein_coding|1/17|c.11+3501T>C||||||,G|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_024726.4|protein_coding|1/18|c.11+3501T>C||||||,G|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NR_073043.1|pseudogene|1/19|n.279+3501T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1478;p3_1000G_AF=0.295128;p3_1000G_AFR_AF=0.618;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=13777;p3_1000G_EAS_AF=0.3472;p3_1000G_EUR_AF=0.0746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237412399;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,30:60:99:785,0,798
chr2	236507144	rs111592506;rs199744234	T	TGAGAG	338.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.325;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.58;ReadPosRankSum=-1.523;SOR=1.179;INS;HET;VARTYPE=INS;dbSNP138_ID=rs111592506;dbSNPBuildID=132,137;ANN=TGAGAG|upstream_gene_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_001270585.1|protein_coding||c.-3487_-3483dupCTCTC|||||3448|,TGAGAG|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_001270584.1|protein_coding|1/17|c.11+108_11+112dupCTCTC||||||,TGAGAG|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NM_024726.4|protein_coding|1/18|c.11+108_11+112dupCTCTC||||||,TGAGAG|intron_variant|MODIFIER|IQCA1|IQCA1|transcript|NR_073043.1|pseudogene|1/19|n.279+108_279+112dupCTCTC||||||;p3_1000G_AC=1054;p3_1000G_AF=0.210463;p3_1000G_AFR_AF=0.469;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=18134;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.0189;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=237415787;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,9:15:99:376,0,382
chr2	237324840	rs13032404;95022	G	A	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.438;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.245;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13032404;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|43/43|c.9494-26C>T||||||,A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|40/40|c.7673-26C>T||||||,A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|42/42|c.8876-26C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1150;p3_1000G_AF=0.229633;p3_1000G_AFR_AF=0.1059;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=18218;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.3221;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238233483;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2157;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=594,3812;ESP6500_AA_AGE=261.0+/-264.0;ESP6500_AA_GTC=34,526,1643;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=42;ESP6500_EA_AC=2693,5907;ESP6500_EA_AGE=424.4+/-354.6;ESP6500_EA_GTC=412,1869,2019;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:intron,NM_057166.4:intron,NM_004369.3:intron;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237324840;ESP6500_GTC=446,2395,3662;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.8876-26C>T,NM_057166.4:c.7673-26C>T,NM_004369.3:c.9494-26C>T;ESP6500_MAF=31.314,13.4816,25.273;ESP6500_TAC=3287,9719;CLINVAR_AF_ESP=0.2527;CLINVAR_AF_EXAC=0.29080;CLINVAR_AF_TGP=0.2296;CLINVAR_ALLELEID=100922;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237324840G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13032404	GT:AD:DP:GQ:PL	0/1:12,18:30:99:488,0,338
chr2	237334649	rs1131296;95018	G	A	1250.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.07;SOR=1.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1131296;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|41/44|c.9206C>T|p.Thr3069Ile|9491/10581|9206/9534|3069/3177||,A|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|38/41|c.7385C>T|p.Thr2462Ile|7670/8760|7385/7713|2462/2570||,A|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|40/43|c.8588C>T|p.Thr2863Ile|8873/9963|8588/8916|2863/2971||;p3_1000G_AA=G|||;p3_1000G_AC=1734;p3_1000G_AF=0.346246;p3_1000G_AFR_AF=0.2504;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=18933;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.4036;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238243292;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1256,3150;ESP6500_AA_AGE=430.6+/-342.6;ESP6500_AA_GTC=191,874,1138;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=-1.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=63;ESP6500_EA_AC=3456,5144;ESP6500_EA_AGE=507.7+/-376.9;ESP6500_EA_GTC=696,2064,1540;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_057167.3:missense,NM_057166.4:missense,NM_004369.3:missense;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237334649;ESP6500_GS=89,89,89;ESP6500_GTC=887,2938,2678;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.8588C>T,NM_057166.4:c.7385C>T,NM_004369.3:c.9206C>T;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(T2863I),NM_057166.4:p.(T2462I),NM_004369.3:p.(T3069I);ESP6500_MAF=40.186,28.5066,36.2294;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=4712,8294;CLINVAR_AF_ESP=0.3623;CLINVAR_AF_EXAC=0.38840;CLINVAR_AF_TGP=0.3463;CLINVAR_ALLELEID=100918;CLINVAR_CLNDISDB=MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237334649G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28339|UniProtKB_(protein):P12111#VAR_047288;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1131296	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1279,116,0
chr2	237334821	rs2270669;95014	C	G	1888.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=0.841;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270669;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|41/44|c.9034G>C|p.Ala3012Pro|9319/10581|9034/9534|3012/3177||,G|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|38/41|c.7213G>C|p.Ala2405Pro|7498/8760|7213/7713|2405/2570||,G|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|40/43|c.8416G>C|p.Ala2806Pro|8701/9963|8416/8916|2806/2971||;p3_1000G_AA=G|||;p3_1000G_AC=3968;p3_1000G_AF=0.792332;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=17731;p3_1000G_EAS_AF=0.7312;p3_1000G_EUR_AF=0.7873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238243464;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6881;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4167,239;ESP6500_AA_AGE=138.4+/-174.2;ESP6500_AA_GTC=1968,231,4;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=6694,1906;ESP6500_EA_AGE=338.7+/-322.9;ESP6500_EA_GTC=2619,1456,225;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_057167.3:missense,NM_057166.4:missense,NM_004369.3:missense;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237334821;ESP6500_GS=27,27,27;ESP6500_GTC=4587,1687,229;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.8416G>C,NM_057166.4:c.7213G>C,NM_004369.3:c.9034G>C;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(A2806P),NM_057166.4:p.(A2405P),NM_004369.3:p.(A3012P);ESP6500_MAF=22.1628,5.4244,16.4924;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=10861,2145;CLINVAR_ALLELEID=100914;CLINVAR_CLNDISDB=MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237334821C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28346|UniProtKB_(protein):P12111#VAR_047287;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2270669	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1917,168,0
chr2	237336320	rs6728818;95008	A	G	2447.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=1.516;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6728818;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|40/44|c.8780T>C|p.Met2927Thr|9065/10581|8780/9534|2927/3177||,G|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|37/41|c.6959T>C|p.Met2320Thr|7244/8760|6959/7713|2320/2570||,G|missense_variant|MODERATE|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|39/43|c.8162T>C|p.Met2721Thr|8447/9963|8162/8916|2721/2971||;p3_1000G_AA=G|||;p3_1000G_AC=3188;p3_1000G_AF=0.636581;p3_1000G_AFR_AF=0.8101;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=17867;p3_1000G_EAS_AF=0.5417;p3_1000G_EUR_AF=0.6899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238244963;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3437,969;ESP6500_AA_AGE=339.4+/-305.8;ESP6500_AA_GTC=1350,737,116;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=5621,2977;ESP6500_EA_AGE=442.6+/-360.1;ESP6500_EA_GTC=1828,1965,506;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_057167.3:missense,NM_057166.4:missense,NM_004369.3:missense;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237336320;ESP6500_GS=81,81,81;ESP6500_GTC=3178,2702,622;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.8162T>C,NM_057166.4:c.6959T>C,NM_004369.3:c.8780T>C;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(M2721T),NM_057166.4:p.(M2320T),NM_004369.3:p.(M2927T);ESP6500_MAF=34.6243,21.9927,30.3445;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=9058,3946;CLINVAR_ALLELEID=100908;CLINVAR_CLNDISDB=MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237336320A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28357|UniProtKB_(protein):P12111#VAR_047285;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6728818	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2476,219,0
chr2	237340987	rs4433949;94998	C	T	4190.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=138;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=0.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4433949;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|38/44|c.7929G>A|p.Ala2643Ala|8214/10581|7929/9534|2643/3177||,T|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|35/41|c.6108G>A|p.Ala2036Ala|6393/8760|6108/7713|2036/2570||,T|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|37/43|c.7311G>A|p.Ala2437Ala|7596/9963|7311/8916|2437/2971||;p3_1000G_AA=C|||;p3_1000G_AC=1715;p3_1000G_AF=0.342452;p3_1000G_AFR_AF=0.2133;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=21379;p3_1000G_EAS_AF=0.4802;p3_1000G_EUR_AF=0.4284;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238249630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1138,3268;ESP6500_AA_AGE=405.1+/-333.4;ESP6500_AA_GTC=155,828,1220;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=150;ESP6500_EA_AC=3646,4954;ESP6500_EA_AGE=524.7+/-380.6;ESP6500_EA_GTC=769,2108,1423;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:coding-synonymous,NM_057166.4:coding-synonymous,NM_004369.3:coding-synonymous;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237340987;ESP6500_GTC=924,2936,2643;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.7311G>A,NM_057166.4:c.6108G>A,NM_004369.3:c.7929G>A;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(A2437),NM_057166.4:p.(A2036),NM_004369.3:p.(A2643);ESP6500_MAF=42.3953,25.8284,36.783;ESP6500_TAC=4784,8222;CLINVAR_AF_ESP=0.3678;CLINVAR_AF_EXAC=0.39875;CLINVAR_AF_TGP=0.3425;CLINVAR_ALLELEID=100898;CLINVAR_CLNDISDB=MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237340987C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28366;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4433949	GT:AD:DP:GQ:PL	1/1:0,138:138:99:4219,414,0
chr2	237350171	rs3790993;94968	C	G	1377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.04;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3790993;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|28/44|c.6855G>C|p.Gly2285Gly|7140/10581|6855/9534|2285/3177||,G|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|25/41|c.5034G>C|p.Gly1678Gly|5319/8760|5034/7713|1678/2570||,G|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|27/43|c.6237G>C|p.Gly2079Gly|6522/9963|6237/8916|2079/2971||;p3_1000G_AA=C|||;p3_1000G_AC=2776;p3_1000G_AF=0.554313;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=16482;p3_1000G_EAS_AF=0.6746;p3_1000G_EUR_AF=0.5278;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238258814;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2543,1863;ESP6500_AA_AGE=633.0+/-395.9;ESP6500_AA_GTC=745,1053,405;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=85;ESP6500_EA_AC=4726,3874;ESP6500_EA_AGE=608.2+/-395.3;ESP6500_EA_GTC=1328,2070,902;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:coding-synonymous,NM_057166.4:coding-synonymous,NM_004369.3:coding-synonymous;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237350171;ESP6500_GTC=2073,3123,1307;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.6237G>C,NM_057166.4:c.5034G>C,NM_004369.3:c.6855G>C;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(G2079),NM_057166.4:p.(G1678),NM_004369.3:p.(G2285);ESP6500_MAF=45.0465,42.2833,44.1104;ESP6500_TAC=7269,5737;CLINVAR_ALLELEID=100868;CLINVAR_CLNDISDB=MedGen:CN029274,OMIM:158810|MedGen:CN033863,OMIM:254090|MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Bethlem_myopathy_1|Ullrich_congenital_muscular_dystrophy_1|Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237350171C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:2881|Illumina_Clinical_Services_Laboratory,Illumina:28376;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3790993	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1406,129,0
chr2	237351032	rs3790995	G	A	731.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3790995;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|27/43|c.6816+98C>T||||||,A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|24/40|c.4995+98C>T||||||,A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|26/42|c.6198+98C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1686;p3_1000G_AF=0.336661;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=20195;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238259675;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:760,72,0
chr2	237352469	rs4663726	G	A	2041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4663726;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|26/43|c.6753+53C>T||||||,A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|23/40|c.4932+53C>T||||||,A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|25/42|c.6135+53C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2783;p3_1000G_AF=0.555711;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=20862;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.5915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238261112;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=583,801;ESP6500_AA_GTC=206,171,315;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=52;ESP6500_EA_AC=1570,1612;ESP6500_EA_GTC=570,430,591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:intron,NM_057166.4:intron,NM_004369.3:intron;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237352469;ESP6500_GTC=776,601,906;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.6135+53C>T,NM_057166.4:c.4932+53C>T,NM_004369.3:c.6753+53C>T;ESP6500_MAF=49.34,42.1243,47.1529;ESP6500_TAC=2153,2413	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:237352469_G_A:2070,138,0
chr2	237352470	rs4663727	C	A	2041.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.46;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4663727;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|26/43|c.6753+52G>T||||||,A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|23/40|c.4932+52G>T||||||,A|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|25/42|c.6135+52G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2783;p3_1000G_AF=0.555711;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=21002;p3_1000G_EAS_AF=0.6647;p3_1000G_EUR_AF=0.5915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238261113;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.454;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1508,1628;ESP6500_AA_GTC=462,584,522;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=30;ESP6500_EA_AC=3965,3199;ESP6500_EA_GTC=1331,1303,948;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:intron,NM_057166.4:intron,NM_004369.3:intron;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237352470;ESP6500_GTC=1793,1887,1470;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.6135+52G>T,NM_057166.4:c.4932+52G>T,NM_004369.3:c.6753+52G>T;ESP6500_MAF=44.6538,48.0867,46.8641;ESP6500_TAC=5473,4827	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,46:46:99:1|1:237352469_G_A:2070,138,0
chr2	237359074	rs2646254;94962	C	T	1208.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2646254;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|20/44|c.6369G>A|p.Leu2123Leu|6654/10581|6369/9534|2123/3177||,T|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|17/41|c.4548G>A|p.Leu1516Leu|4833/8760|4548/7713|1516/2570||,T|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|19/43|c.5751G>A|p.Leu1917Leu|6036/9963|5751/8916|1917/2971||;p3_1000G_AA=C|||;p3_1000G_AC=1657;p3_1000G_AF=0.330871;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=19812;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.1511;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238267717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2073,2333;ESP6500_AA_AGE=570.8+/-382.9;ESP6500_AA_GTC=485,1103,615;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=4.3;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=220;ESP6500_EA_AC=1168,7432;ESP6500_EA_AGE=239.0+/-270.3;ESP6500_EA_GTC=77,1014,3209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:coding-synonymous,NM_057166.4:coding-synonymous,NM_004369.3:coding-synonymous;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237359074;ESP6500_GTC=562,2117,3824;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.5751G>A,NM_057166.4:c.4548G>A,NM_004369.3:c.6369G>A;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(L1917),NM_057166.4:p.(L1516),NM_004369.3:p.(L2123);ESP6500_MAF=13.5814,47.0495,24.9193;ESP6500_TAC=3241,9765;CLINVAR_AF_ESP=0.2492;CLINVAR_AF_EXAC=0.21289;CLINVAR_AF_TGP=0.3309;CLINVAR_ALLELEID=100862;CLINVAR_CLNDISDB=MedGen:CN029274,OMIM:158810|MedGen:CN033863,OMIM:254090|MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Bethlem_myopathy_1|Ullrich_congenital_muscular_dystrophy_1|Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237359074C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:2876|Illumina_Clinical_Services_Laboratory,Illumina:28643;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2646254	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1237,119,0
chr2	237361902	rs3736341	T	C	939.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.6;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3736341;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|14/43|c.6064-71A>G||||||,C|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|11/40|c.4243-71A>G||||||,C|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|13/42|c.5446-71A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=661;p3_1000G_AF=0.131989;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=19776;p3_1000G_EAS_AF=0.2768;p3_1000G_EUR_AF=0.0258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238270545;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:968,78,0
chr2	237363143	rs11287247;rs398081161;rs552120635	GC	G	192.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.09;SOR=4.407;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs11287247;dbSNPBuildID=132,142,138;ANN=G|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|14/43|c.6063+109delG||||||,G|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|11/40|c.4242+109delG||||||,G|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|13/42|c.5445+109delG||||||	GT:AD:DP:GQ:PL	1/1:0,8:8:24:230,24,0
chr2	237368930	rs2645774;94936	C	A	651.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.046;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=5.192;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.282;SOR=0.256;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2645774;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|10/44|c.4533G>T|p.Gly1511Gly|4818/10581|4533/9534|1511/3177||,A|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|7/41|c.2712G>T|p.Gly904Gly|2997/8760|2712/7713|904/2570||,A|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|9/43|c.3915G>T|p.Gly1305Gly|4200/9963|3915/8916|1305/2971||,A|downstream_gene_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057164.4|protein_coding||c.*2755G>T|||||2687|,A|downstream_gene_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057165.4|protein_coding||c.*2755G>T|||||2687|;p3_1000G_AA=C|||;p3_1000G_AC=1330;p3_1000G_AF=0.265575;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=18618;p3_1000G_EAS_AF=0.256;p3_1000G_EUR_AF=0.2177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238277573;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1224,3182;ESP6500_AA_AGE=421.5+/-339.4;ESP6500_AA_GTC=163,898,1142;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=48;ESP6500_EA_AC=1824,6776;ESP6500_EA_AGE=321.3+/-315.0;ESP6500_EA_GTC=208,1408,2684;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:coding-synonymous,NM_057166.4:coding-synonymous,NM_004369.3:coding-synonymous;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237368930;ESP6500_GTC=371,2306,3826;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.3915G>T,NM_057166.4:c.2712G>T,NM_004369.3:c.4533G>T;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(G1305),NM_057166.4:p.(G904),NM_004369.3:p.(G1511);ESP6500_MAF=21.2093,27.7803,23.4353;ESP6500_TAC=3048,9958;CLINVAR_AF_ESP=0.2344;CLINVAR_AF_EXAC=0.23545;CLINVAR_AF_TGP=0.2656;CLINVAR_ALLELEID=100836;CLINVAR_CLNDISDB=MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237368930C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28437;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2645774	GT:AD:DP:GQ:PL	0/1:37,29:66:99:680,0,1090
chr2	237369152	rs2646260;94933	A	G	343.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=6.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.351;SOR=1.928;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2646260;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|10/44|c.4311T>C|p.Ile1437Ile|4596/10581|4311/9534|1437/3177||,G|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|7/41|c.2490T>C|p.Ile830Ile|2775/8760|2490/7713|830/2570||,G|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|9/43|c.3693T>C|p.Ile1231Ile|3978/9963|3693/8916|1231/2971||,G|downstream_gene_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057164.4|protein_coding||c.*2533T>C|||||2465|,G|downstream_gene_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057165.4|protein_coding||c.*2533T>C|||||2465|;p3_1000G_AA=G|||;p3_1000G_AC=1945;p3_1000G_AF=0.388379;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=19671;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.2455;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238277795;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2501,1905;ESP6500_AA_AGE=544.5+/-376.5;ESP6500_AA_GTC=714,1073,416;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_004369.3:9534;ESP6500_CG=-1.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=47;ESP6500_EA_AC=2013,6587;ESP6500_EA_AGE=720.0+/-406.3;ESP6500_EA_GTC=241,1531,2528;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:coding-synonymous,NM_057166.4:coding-synonymous,NM_004369.3:coding-synonymous;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237369152;ESP6500_GTC=955,2604,2944;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.3693T>C,NM_057166.4:c.2490T>C,NM_004369.3:c.4311T>C;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(I1231),NM_057166.4:p.(I830),NM_004369.3:p.(I1437);ESP6500_MAF=23.407,43.2365,34.7071;ESP6500_TAC=4514,8492;CLINVAR_AF_ESP=0.3471;CLINVAR_AF_EXAC=0.28888;CLINVAR_AF_TGP=0.3884;CLINVAR_ALLELEID=100833;CLINVAR_CLNDISDB=MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237369152A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28394;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2646260	GT:AD:DP:GQ:PL	0/1:17,11:28:99:372,0,447
chr2	237374962	rs12622093;94921	G	A	2423.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=1.55;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12622093;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|8/44|c.3129C>T|p.Gly1043Gly|3414/10581|3129/9534|1043/3177||,A|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|5/41|c.1308C>T|p.Gly436Gly|1593/8760|1308/7713|436/2570||,A|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|7/43|c.2511C>T|p.Gly837Gly|2796/9963|2511/8916|837/2971||,A|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057164.4|protein_coding|6/7|c.1908C>T|p.Gly636Gly|2193/3464|1908/3111|636/1036||,A|synonymous_variant|LOW|COL6A3|COL6A3|transcript|NM_057165.4|protein_coding|7/8|c.2511C>T|p.Gly837Gly|2796/4067|2511/3714|837/1237||;p3_1000G_AA=G|||;p3_1000G_AC=1081;p3_1000G_AF=0.215855;p3_1000G_AFR_AF=0.1082;p3_1000G_AMR_AF=0.2536;p3_1000G_AN=5008;p3_1000G_DP=19171;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.2465;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238283605;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=568,3838;ESP6500_AA_AGE=248.7+/-256.4;ESP6500_AA_GTC=42,484,1677;ESP6500_CDS_SIZES=NM_057167.3:8916,NM_057166.4:7713,NM_057165.4:3714,NM_057164.4:3111,NM_004369.3:9534;ESP6500_CG=1.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=48;ESP6500_EA_AC=2008,6592;ESP6500_EA_AGE=348.4+/-327.0;ESP6500_EA_GTC=244,1520,2536;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_057167.3:coding-synonymous,NM_057166.4:coding-synonymous,NM_057165.4:coding-synonymous,NM_057164.4:coding-synonymous,NM_004369.3:coding-synonymous;ESP6500_GL=COL6A3;ESP6500_GRCh38_POSITION=2:237374962;ESP6500_GTC=286,2004,4213;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_057167.3:c.2511C>T,NM_057166.4:c.1308C>T,NM_057165.4:c.2511C>T,NM_057164.4:c.1908C>T,NM_004369.3:c.3129C>T;ESP6500_HGVS_PROTEIN_VAR=NM_057167.3:p.(G837),NM_057166.4:p.(G436),NM_057165.4:p.(G837),NM_057164.4:p.(G636),NM_004369.3:p.(G1043);ESP6500_MAF=23.3488,12.8915,19.8062;ESP6500_TAC=2576,10430;CLINVAR_AF_ESP=0.1981;CLINVAR_AF_EXAC=0.23271;CLINVAR_AF_TGP=0.2159;CLINVAR_ALLELEID=100821;CLINVAR_CLNDISDB=MedGen:CN117976|MedGen:CN169374;CLINVAR_CLNDN=Collagen_VI-related_myopathy|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.237374962G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28462;CLINVAR_GENEINFO=COL6A3:1293;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12622093	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2452,231,0
chr2	237395263	rs2645778	A	G	43.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2645778;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_004369.3|protein_coding|2/43|c.92-59T>C||||||,G|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057166.4|protein_coding|2/40|c.91+1464T>C||||||,G|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057167.3|protein_coding|2/42|c.91+1464T>C||||||,G|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057164.4|protein_coding|2/6|c.91+1464T>C||||||,G|intron_variant|MODIFIER|COL6A3|COL6A3|transcript|NM_057165.4|protein_coding|2/7|c.91+1464T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1967;p3_1000G_AF=0.392772;p3_1000G_AFR_AF=0.6309;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=21127;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.2634;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238303906;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:71,6,0
chr2	237541129	rs76110786	A	G	754.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.55;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76110786;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_024101.6|protein_coding|11/15|c.1446+172A>G||||||,G|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281474.1|protein_coding|9/13|c.1017+172A>G||||||,G|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001042467.2|protein_coding|10/14|c.1362+172A>G||||||,G|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281473.1|protein_coding|8/12|c.1086+596A>G||||||,G|intron_variant|MODIFIER|MLPH|MLPH|transcript|NR_104019.1|pseudogene|11/16|n.1689+172A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=230;p3_1000G_AF=0.0459265;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=18325;p3_1000G_EAS_AF=0.1062;p3_1000G_EUR_AF=0.0149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238449772;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:783,63,0
chr2	237549187	rs145499212	TTGA	T	1087.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.85;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs145499212;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_024101.6|protein_coding|13/15|c.1618-30_1618-28delTGA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281474.1|protein_coding|11/13|c.1189-30_1189-28delTGA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001042467.2|protein_coding|12/14|c.1534-30_1534-28delTGA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281473.1|protein_coding|10/12|c.1258-30_1258-28delTGA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MLPH|MLPH|transcript|NR_104019.1|pseudogene|14/16|n.2050-30_2050-28delTGA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=116;p3_1000G_AF=0.0231629;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=19774;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238457830;p3_1000G_GRCH37_REF=TTGA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=INDEL;ESP6500_AA_AC=12,4254;ESP6500_AA_GTC=5,2,2126;ESP6500_CDS_SIZES=NM_024101.5:1803,NM_001042467.1:1719;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=72;ESP6500_EA_AC=25,8229;ESP6500_EA_GTC=7,11,4109;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024101.5:intron,NM_001042467.1:intron;ESP6500_GL=MLPH;ESP6500_GRCh38_POSITION=2:237549187;ESP6500_GTC=12,13,6235;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_024101.5:c.1618-33_1618-31del3,NM_001042467.1:c.1534-33_1534-31del3;ESP6500_MAF=0.3029,0.2813,0.2955;ESP6500_TAC=37,12483	GT:AD:DP:GQ:PL	1/1:0,25:25:75:1125,75,0
chr2	237553130	rs60687800	G	A	652.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs60687800;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_024101.6|protein_coding|15/15|c.1777-436G>A||||||,A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281474.1|protein_coding|13/13|c.1348-436G>A||||||,A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001042467.2|protein_coding|14/14|c.1693-436G>A||||||,A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281473.1|protein_coding|12/12|c.1417-436G>A||||||,A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NR_104019.1|pseudogene|16/16|n.2209-436G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1793;p3_1000G_AF=0.358027;p3_1000G_AFR_AF=0.6089;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=20370;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.1163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238461773;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:681,66,0
chr2	237553212	rs67525826	C	A	543.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.99;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs67525826;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_024101.6|protein_coding|15/15|c.1777-354C>A||||||,A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281474.1|protein_coding|13/13|c.1348-354C>A||||||,A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001042467.2|protein_coding|14/14|c.1693-354C>A||||||,A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281473.1|protein_coding|12/12|c.1417-354C>A||||||,A|intron_variant|MODIFIER|MLPH|MLPH|transcript|NR_104019.1|pseudogene|16/16|n.2209-354C>A||||||;p3_1000G_AA=c|||;p3_1000G_AC=1792;p3_1000G_AF=0.357827;p3_1000G_AFR_AF=0.6082;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=20859;p3_1000G_EAS_AF=0.3919;p3_1000G_EUR_AF=0.1163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238461855;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:572,48,0
chr2	237553681	rs8260	A	G	1483.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=1.464;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8260;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|MLPH|MLPH|transcript|NM_024101.6|protein_coding|16/16|c.*89A>G|||||89|,G|3_prime_UTR_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281474.1|protein_coding|14/14|c.*89A>G|||||89|,G|3_prime_UTR_variant|MODIFIER|MLPH|MLPH|transcript|NM_001042467.2|protein_coding|15/15|c.*89A>G|||||89|,G|3_prime_UTR_variant|MODIFIER|MLPH|MLPH|transcript|NM_001281473.1|protein_coding|13/13|c.*89A>G|||||89|,G|non_coding_transcript_exon_variant|MODIFIER|MLPH|MLPH|transcript|NR_104019.1|pseudogene|17/17|n.2324A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1904;p3_1000G_AF=0.380192;p3_1000G_AFR_AF=0.6899;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=21532;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.1173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238462324;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2935;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=807,577;ESP6500_AA_GTC=238,331,123;ESP6500_CDS_SIZES=NM_024101.5:1803,NM_001042467.1:1719;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=88;ESP6500_EA_AC=476,2706;ESP6500_EA_GTC=23,430,1138;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024101.5:utr-3,NM_001042467.1:utr-3;ESP6500_GL=MLPH;ESP6500_GRCh38_POSITION=2:237553681;ESP6500_GTC=261,761,1261;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024101.5:c.*89A>G,NM_001042467.1:c.*89A>G;ESP6500_MAF=14.9591,41.6908,28.099;ESP6500_TAC=1283,3283	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1512,138,0
chr2	237574521	rs6766	T	C	2043.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.97;SOR=0.754;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6766;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|RAB17|RAB17|transcript|NM_022449.3|protein_coding|6/6|c.*498A>G|||||498|,C|non_coding_transcript_exon_variant|MODIFIER|RAB17|RAB17|transcript|NR_033308.1|pseudogene|5/5|n.1648A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2358;p3_1000G_AF=0.470847;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=16713;p3_1000G_EAS_AF=0.4177;p3_1000G_EUR_AF=0.2217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238483164;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2072,198,0
chr2	237574619	rs75158612	G	A	964.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75158612;dbSNPBuildID=131;ANN=A|3_prime_UTR_variant|MODIFIER|RAB17|RAB17|transcript|NM_022449.3|protein_coding|6/6|c.*400C>T|||||400|,A|non_coding_transcript_exon_variant|MODIFIER|RAB17|RAB17|transcript|NR_033308.1|pseudogene|5/5|n.1550C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=578;p3_1000G_AF=0.115415;p3_1000G_AFR_AF=0.1513;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=18024;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238483262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:993,87,0
chr2	237575028	rs59945834	G	A	409.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.61;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs59945834;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|RAB17|RAB17|transcript|NM_022449.3|protein_coding|6/6|c.630C>T|p.Cys210Cys|1293/1999|630/639|210/212||,A|sequence_feature|LOW|RAB17|RAB17|lipidation-site:S-geranylgeranyl_cysteine|NM_022449.3|protein_coding|6/6|c.630C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|RAB17|RAB17|transcript|NR_033308.1|pseudogene|5/5|n.1141C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1601;p3_1000G_AF=0.319688;p3_1000G_AFR_AF=0.6649;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=16954;p3_1000G_EAS_AF=0.2708;p3_1000G_EUR_AF=0.1342;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238483671;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1953;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2563,1843;ESP6500_AA_AGE=513.6+/-368.4;ESP6500_AA_GTC=740,1083,380;ESP6500_CDS_SIZES=NM_022449.3:639;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=29;ESP6500_EA_AC=1379,7221;ESP6500_EA_AGE=730.6+/-406.8;ESP6500_EA_GTC=110,1159,3031;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022449.3:coding-synonymous;ESP6500_GL=RAB17;ESP6500_GRCh38_POSITION=2:237575028;ESP6500_GTC=850,2242,3411;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022449.3:c.630C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022449.3:p.(C210);ESP6500_MAF=16.0349,41.8293,30.3091;ESP6500_TAC=3942,9064	GT:AD:DP:GQ:PL	1/1:0,16:16:48:438,48,0
chr2	237575086	rs2280289	A	G	748.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=0.77;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2280289;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|RAB17|RAB17|transcript|NM_022449.3|protein_coding|6/6|c.572T>C|p.Leu191Pro|1235/1999|572/639|191/212||,G|non_coding_transcript_exon_variant|MODIFIER|RAB17|RAB17|transcript|NR_033308.1|pseudogene|5/5|n.1083T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1899;p3_1000G_AF=0.379193;p3_1000G_AFR_AF=0.7141;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=17583;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.1362;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238483729;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2782,1624;ESP6500_AA_AGE=497.1+/-363.7;ESP6500_AA_GTC=875,1032,296;ESP6500_CDS_SIZES=NM_022449.3:639;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=1394,7206;ESP6500_EA_AGE=753.0+/-407.4;ESP6500_EA_GTC=108,1178,3014;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022449.3:missense;ESP6500_GL=RAB17;ESP6500_GRCh38_POSITION=2:237575086;ESP6500_GS=98;ESP6500_GTC=983,2210,3310;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022449.3:c.572T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022449.3:p.(L191P);ESP6500_MAF=16.2093,36.8588,32.1083;ESP6500_PH=benign:0.0;ESP6500_TAC=4176,8830	GT:AD:DP:GQ:PL	1/1:0,25:25:75:777,75,0
chr2	237575547	rs78478325	T	C	1917.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.5;SOR=1.123;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs78478325;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|RAB17|RAB17|transcript|NM_022449.3|protein_coding|4/5|c.436-67A>G||||||,C|intron_variant|MODIFIER|RAB17|RAB17|transcript|NR_033308.1|pseudogene|3/4|n.947-67A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=548;p3_1000G_AF=0.109425;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=18155;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.0239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238484190;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1946,177,0
chr2	237575579	rs10202062	G	A	1527.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.48;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10202062;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|RAB17|RAB17|transcript|NM_022449.3|protein_coding|4/5|c.436-99C>T||||||,A|intron_variant|MODIFIER|RAB17|RAB17|transcript|NR_033308.1|pseudogene|3/4|n.947-99C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2155;p3_1000G_AF=0.430312;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=17705;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238484222;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1556,155,0
chr2	237586099	rs3751112	A	G	1267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.92;SOR=0.954;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3751112;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|RAB17|RAB17|transcript|NM_022449.3|protein_coding|2/6|c.56T>C|p.Val19Ala|719/1999|56/639|19/212||,G|non_coding_transcript_exon_variant|MODIFIER|RAB17|RAB17|transcript|NR_033308.1|pseudogene|2/5|n.719T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1486;p3_1000G_AF=0.296725;p3_1000G_AFR_AF=0.553;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=18090;p3_1000G_EAS_AF=0.1667;p3_1000G_EUR_AF=0.1561;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238494742;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2239,2167;ESP6500_AA_AGE=591.2+/-387.5;ESP6500_AA_GTC=574,1091,538;ESP6500_CDS_SIZES=NM_022449.3:639;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=55;ESP6500_EA_AC=1451,7149;ESP6500_EA_AGE=276.1+/-292.1;ESP6500_EA_GTC=126,1199,2975;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022449.3:missense;ESP6500_GL=RAB17;ESP6500_GRCh38_POSITION=2:237586099;ESP6500_GS=64;ESP6500_GTC=700,2290,3513;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_022449.3:c.56T>C;ESP6500_HGVS_PROTEIN_VAR=NM_022449.3:p.(V19A);ESP6500_MAF=16.8721,49.1829,28.3715;ESP6500_PH=benign:0.001;ESP6500_TAC=3690,9316	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1296,123,0
chr2	237627603	rs28364855	C	T	55.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28364855;dbSNPBuildID=125;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|1/24|c.-42C>T||||||,T|5_prime_UTR_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|1/24|c.-42C>T|||||42|;p3_1000G_AA=c|||;p3_1000G_AC=245;p3_1000G_AF=0.0489217;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=3504;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238536246;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:83,9,0
chr2	237728055	rs150738667;rs60778485	GGTCT	G	73.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.8;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.992;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs60778485,rs150738667;dbSNPBuildID=134,129;ANN=G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|4/10|c.249+7238_249+7241delGTCT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|8/23|c.444+125_444+128delGTCT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|2/7|c.153+19430_153+19433delGTCT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|4/9|c.249+7238_249+7241delGTCT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|2/11|c.153+19430_153+19433delGTCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=283;p3_1000G_AF=0.0565096;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=18829;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.0408;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238636698;p3_1000G_GRCH37_REF=GGTCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,3:8:99:111,0,288
chr2	237748293	rs2304431	A	G	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.17;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.935;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304431;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|4/10|c.250-71A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|11/23|c.634-71A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|2/7|c.154-71A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|4/9|c.250-71A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|2/11|c.154-71A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1960;p3_1000G_AF=0.391374;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=19731;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.2525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238656936;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=634,750;ESP6500_AA_GTC=143,348,201;ESP6500_CDS_SIZES=NM_004735.3:2355,NM_001137553.1:2259,NM_001137552.1:2427,NM_001137551.1:1185,NM_001137550.1:1923;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=99;ESP6500_EA_AC=711,2471;ESP6500_EA_GTC=72,567,952;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004735.3:intron,NM_001137553.1:intron,NM_001137552.1:intron,NM_001137551.1:intron,NM_001137550.1:intron;ESP6500_GL=LRRFIP1;ESP6500_GRCh38_POSITION=2:237748293;ESP6500_GTC=215,915,1153;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004735.3:c.250-71A>G,NM_001137553.1:c.154-71A>G,NM_001137552.1:c.250-71A>G,NM_001137551.1:c.154-71A>G,NM_001137550.1:c.634-71A>G;ESP6500_MAF=22.3444,45.8092,29.4569;ESP6500_TAC=1345,3221	GT:AD:DP:GQ:PL	0/1:8,5:13:99:154,0,206
chr2	237751065	rs3769062	C	T	41.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.431;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769062;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|6/10|c.412-135C>T||||||,T|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|13/23|c.796-135C>T||||||,T|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|4/7|c.315+1741C>T||||||,T|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|6/9|c.411+1741C>T||||||,T|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|4/11|c.315+1741C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1962;p3_1000G_AF=0.391773;p3_1000G_AFR_AF=0.469;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=17287;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238659708;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:31:70,0,31
chr2	237753227	rs3832061;rs550273272	GT	G	100.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.736;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-0.249;SOR=1.402;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3832061;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|7/10|c.484-73delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|14/23|c.868-73delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|4/7|c.316-73delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|6/9|c.412-73delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|4/11|c.316-73delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1689;p3_1000G_AF=0.33726;p3_1000G_AFR_AF=0.27;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=20346;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.2495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238661870;p3_1000G_GRCH37_REF=GT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:8,6:14:99:138,0,190
chr2	237753511	rs3769061	A	G	429.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=-1.628;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769061;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|8/10|c.654+32A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|15/23|c.1038+32A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|5/7|c.486+32A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|7/9|c.582+32A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|5/11|c.486+32A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1291;p3_1000G_AF=0.257788;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=19598;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.1978;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238662154;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=621,3785;ESP6500_AA_AGE=265.0+/-266.4;ESP6500_AA_GTC=46,529,1628;ESP6500_CDS_SIZES=NM_004735.3:2355,NM_001137553.1:2259,NM_001137552.1:2427,NM_001137551.1:1185,NM_001137550.1:1923;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=58;ESP6500_EA_AC=1586,7014;ESP6500_EA_AGE=295.2+/-302.3;ESP6500_EA_GTC=141,1304,2855;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004735.3:intron,NM_001137553.1:intron,NM_001137552.1:intron,NM_001137551.1:intron,NM_001137550.1:intron;ESP6500_GL=LRRFIP1;ESP6500_GRCh38_POSITION=2:237753511;ESP6500_GTC=187,1833,4483;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004735.3:c.582+32A>G,NM_001137553.1:c.486+32A>G,NM_001137552.1:c.654+32A>G,NM_001137551.1:c.486+32A>G,NM_001137550.1:c.1038+32A>G;ESP6500_MAF=18.4419,14.0944,16.9691;ESP6500_TAC=2207,10799	GT:AD:DP:GQ:PL	0/1:5,14:19:99:458,0,103
chr2	237758858	rs3215064;rs571216847;rs200976763;~rs3215064	G	GA	70.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.227;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=-0.156;SOR=0.412;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3215064;dbSNPBuildID=142,137;ANN=GA|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|9/10|c.748-1198dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|18/23|c.1317+45dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|6/7|c.580-1198dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|8/9|c.676-1198dupA||||||INFO_REALIGN_3_PRIME,GA|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|6/11|c.580-1198dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2039;p3_1000G_AF=0.407149;p3_1000G_AFR_AF=0.3676;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=18241;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238667501;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP,INDEL;ESP6500_AA_AC=1170,713,0,1315;ESP6500_AA_GTC=224,256,0,466,95,0,267,0,0,291;ESP6500_CDS_SIZES=NM_004735.3:2355,NM_004735.3:2355,NM_004735.3:2355,NM_001137553.1:2259,NM_001137553.1:2259,NM_001137553.1:2259,NM_001137552.1:2427,NM_001137552.1:2427,NM_001137552.1:2427,NM_001137551.1:1185,NM_001137551.1:1185,NM_001137551.1:1185,NM_001137550.1:1923,NM_001137550.1:1923,NM_001137550.1:1923;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=45;ESP6500_EA_AC=2472,331,1,4170;ESP6500_EA_GTC=440,109,0,1483,5,0,212,0,1,1237;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004735.3:intron,NM_004735.3:intron,NM_004735.3:intron,NM_001137553.1:intron,NM_001137553.1:intron,NM_001137553.1:intron,NM_001137552.1:intron,NM_001137552.1:intron,NM_001137552.1:intron,NM_001137551.1:intron,NM_001137551.1:intron,NM_001137551.1:intron,NM_001137550.1:intron,NM_001137550.1:intron,NM_001137550.1:intron;ESP6500_GL=LRRFIP1;ESP6500_GRCh38_POSITION=2:237758858;ESP6500_GTC=664,365,0,1949,100,0,479,0,1,1528;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_004735.3:c.676-1206_676-1205insAAA,NM_004735.3:c.676-1206_676-1205insAA,NM_004735.3:c.676-1206_676-1205insA,NM_001137553.1:c.580-1206_580-1205insAAA,NM_001137553.1:c.580-1206_580-1205insAA,NM_001137553.1:c.580-1206_580-1205insA,NM_001137552.1:c.748-1206_748-1205insAAA,NM_001137552.1:c.748-1206_748-1205insAA,NM_001137552.1:c.748-1206_748-1205insA,NM_001137551.1:c.580-1206_580-1205insAAA,NM_001137551.1:c.580-1206_580-1205insAA,NM_001137551.1:c.580-1206_580-1205insA,NM_001137550.1:c.1317+37_1317+38insAAA,NM_001137550.1:c.1317+37_1317+38insAA,NM_001137550.1:c.1317+37_1317+38insA;ESP6500_MAF=40.2065,58.8806,46.0775;ESP6500_TAC=3642,1044,1,5485	GT:AD:DP:GQ:PL	0/1:7,5:12:99:108,0,174
chr2	237760159	rs3213868	A	G	892.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0.908;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=1.63;SOR=0.932;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3213868;dbSNPBuildID=106;ANN=G|synonymous_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|10/11|c.843A>G|p.Thr281Thr|1135/4494|843/2427|281/808||,G|synonymous_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|19/24|c.1413A>G|p.Thr471Thr|1477/4102|1413/1923|471/640||,G|synonymous_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|7/8|c.675A>G|p.Thr225Thr|967/4326|675/2259|225/752||,G|synonymous_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|9/10|c.771A>G|p.Thr257Thr|1063/4422|771/2355|257/784||,G|synonymous_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|7/12|c.675A>G|p.Thr225Thr|967/3592|675/1185|225/394||;p3_1000G_AA=G|||;p3_1000G_AC=1813;p3_1000G_AF=0.362021;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=20595;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.2515;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238668802;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1561,2845;ESP6500_AA_AGE=669.1+/-402.1;ESP6500_AA_GTC=299,963,941;ESP6500_CDS_SIZES=NM_004735.3:2355,NM_001137553.1:2259,NM_001137552.1:2427,NM_001137551.1:1185,NM_001137550.1:1923;ESP6500_CG=-10.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=102;ESP6500_EA_AC=2000,6600;ESP6500_EA_AGE=722.2+/-406.4;ESP6500_EA_GTC=218,1564,2518;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004735.3:coding-synonymous,NM_001137553.1:coding-synonymous,NM_001137552.1:coding-synonymous,NM_001137551.1:coding-synonymous,NM_001137550.1:coding-synonymous;ESP6500_GL=LRRFIP1;ESP6500_GRCh38_POSITION=2:237760159;ESP6500_GTC=517,2527,3459;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004735.3:c.771A>G,NM_001137553.1:c.675A>G,NM_001137552.1:c.843A>G,NM_001137551.1:c.675A>G,NM_001137550.1:c.1413A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004735.3:p.(T257),NM_001137553.1:p.(T225),NM_001137552.1:p.(T281),NM_001137551.1:p.(T225),NM_001137550.1:p.(T471);ESP6500_MAF=23.2558,35.429,27.3797;ESP6500_TAC=3561,9445	GT:AD:DP:GQ:PL	0/1:36,36:72:99:921,0,862
chr2	237762474	rs734388	A	G	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.91;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.935;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs734388;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|10/10|c.890-129A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|19/23|c.1459+2269A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|7/7|c.722-129A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|9/9|c.818-129A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|7/11|c.721+2269A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1817;p3_1000G_AF=0.362819;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=19190;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.2495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238671117;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:231,0,117
chr2	237762685	rs868119	A	G	785.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.4;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.46;MQRankSum=1.1;QD=16.04;ReadPosRankSum=-0.555;SOR=0.706;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs868119;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|11/11|c.972A>G|p.Glu324Glu|1264/4494|972/2427|324/808||,G|synonymous_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|8/8|c.804A>G|p.Glu268Glu|1096/4326|804/2259|268/752||,G|synonymous_variant|LOW|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|10/10|c.900A>G|p.Glu300Glu|1192/4422|900/2355|300/784||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|19/23|c.1459+2480A>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|7/11|c.721+2480A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1647;p3_1000G_AF=0.328874;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=21928;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.1998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238671328;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1576,2830;ESP6500_AA_AGE=491.3+/-362.1;ESP6500_AA_GTC=296,984,923;ESP6500_CDS_SIZES=NM_004735.3:2355,NM_001137553.1:2259,NM_001137552.1:2427,NM_001137551.1:1185,NM_001137550.1:1923;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=77;ESP6500_EA_AC=1617,6983;ESP6500_EA_AGE=300.5+/-305.0;ESP6500_EA_GTC=144,1329,2827;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004735.3:coding-synonymous,NM_001137553.1:coding-synonymous,NM_001137552.1:coding-synonymous,NM_001137551.1:intron,NM_001137550.1:intron;ESP6500_GL=LRRFIP1;ESP6500_GRCh38_POSITION=2:237762685;ESP6500_GTC=440,2313,3750;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004735.3:c.900A>G,NM_001137553.1:c.804A>G,NM_001137552.1:c.972A>G,NM_001137551.1:c.721+2480A>G,NM_001137550.1:c.1459+2480A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004735.3:p.(E300),NM_001137553.1:p.(E268),NM_001137552.1:p.(E324),.,.;ESP6500_MAF=18.8023,35.7694,24.5502;ESP6500_TAC=3193,9813	GT:AD:DP:GQ:PL	0/1:23,26:49:99:814,0,670
chr2	237764060	rs3739038	C	G	533.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.547;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.727;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739038;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|LRRFIP1|LRRFIP1|transcript|NM_001137552.1|protein_coding|11/11|c.2347C>G|p.His783Asp|2639/4494|2347/2427|783/808||,G|missense_variant|MODERATE|LRRFIP1|LRRFIP1|transcript|NM_001137553.1|protein_coding|8/8|c.2179C>G|p.His727Asp|2471/4326|2179/2259|727/752||,G|missense_variant|MODERATE|LRRFIP1|LRRFIP1|transcript|NM_004735.3|protein_coding|10/10|c.2275C>G|p.His759Asp|2567/4422|2275/2355|759/784||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|19/23|c.1459+3855C>G||||||,G|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|7/11|c.721+3855C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1803;p3_1000G_AF=0.360024;p3_1000G_AFR_AF=0.3563;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=20722;p3_1000G_EAS_AF=0.505;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238672703;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1635,2771;ESP6500_AA_AGE=659.0+/-400.5;ESP6500_AA_GTC=319,997,887;ESP6500_CDS_SIZES=NM_004735.3:2355,NM_001137553.1:2259,NM_001137552.1:2427,NM_001137551.1:1185,NM_001137550.1:1923;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=77;ESP6500_EA_AC=2004,6596;ESP6500_EA_AGE=721.6+/-406.4;ESP6500_EA_GTC=219,1566,2515;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004735.3:missense,NM_001137553.1:missense,NM_001137552.1:missense,NM_001137551.1:intron,NM_001137550.1:intron;ESP6500_GL=LRRFIP1;ESP6500_GRCh38_POSITION=2:237764060;ESP6500_GS=81,81,81,.,.;ESP6500_GTC=538,2563,3402;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_004735.3:c.2275C>G,NM_001137553.1:c.2179C>G,NM_001137552.1:c.2347C>G,NM_001137551.1:c.721+3855C>G,NM_001137550.1:c.1459+3855C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004735.3:p.(H759D),NM_001137553.1:p.(H727D),NM_001137552.1:p.(H783D),.,.;ESP6500_MAF=23.3023,37.1085,27.9794;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,.,.;ESP6500_TAC=3639,9367	GT:AD:DP:GQ:PL	0/1:21,18:39:99:562,0,613
chr2	237774523	rs2279644	G	A	12.05	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.895;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=6.166;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=-0.258;SOR=0.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2279644;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|23/23|c.1812+61G>A||||||,A|intron_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|11/11|c.1074+61G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1696;p3_1000G_AF=0.338658;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=17990;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.2455;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238683166;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4018;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,3:15:40:40,0,348
chr2	237779601	rs1151798	A	G	594.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.3;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1151798;dbSNPBuildID=87;ANN=G|3_prime_UTR_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|24/24|c.*69A>G|||||69|,G|3_prime_UTR_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|12/12|c.*69A>G|||||69|;p3_1000G_AA=G|||;p3_1000G_AC=4994;p3_1000G_AF=0.997204;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=16917;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238688244;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:623,57,0
chr2	237779632	rs2117363	C	T	94.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.415;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.494;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2117363;dbSNPBuildID=96;ANN=T|3_prime_UTR_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|24/24|c.*100C>T|||||100|,T|3_prime_UTR_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|12/12|c.*100C>T|||||100|;p3_1000G_AA=T|||;p3_1000G_AC=1359;p3_1000G_AF=0.271366;p3_1000G_AFR_AF=0.2882;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=15911;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238688275;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:123,0,172
chr2	237779662	rs2117364	C	T	108.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-1.068;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2117364;dbSNPBuildID=96;ANN=T|3_prime_UTR_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137550.1|protein_coding|24/24|c.*130C>T|||||130|,T|3_prime_UTR_variant|MODIFIER|LRRFIP1|LRRFIP1|transcript|NM_001137551.1|protein_coding|12/12|c.*130C>T|||||130|;p3_1000G_AA=C|||;p3_1000G_AC=1380;p3_1000G_AF=0.275559;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=15350;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.1819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238688305;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:137,0,107
chr2	237821674	rs62196084	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.074;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62196084;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|RBM44|RBM44|transcript|NM_001080504.2|protein_coding|7/15|c.2124-69A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=939;p3_1000G_AF=0.1875;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=19187;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238730317;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:255,0,226
chr2	237824373	rs4663795	G	A	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.253;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=0.797;SOR=0.932;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4663795;dbSNPBuildID=111;ANN=A|synonymous_variant|LOW|RBM44|RBM44|transcript|NM_001080504.2|protein_coding|10/16|c.2406G>A|p.Gln802Gln|2538/4283|2406/3159|802/1052||;p3_1000G_AA=A|||;p3_1000G_AC=1319;p3_1000G_AF=0.263379;p3_1000G_AFR_AF=0.3033;p3_1000G_AMR_AF=0.183;p3_1000G_AN=5008;p3_1000G_DP=18610;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.1352;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238733016;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1163,2721;ESP6500_AA_GTC=186,791,965;ESP6500_CDS_SIZES=NM_001080504.2:3159;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=119;ESP6500_EA_AC=1166,7144;ESP6500_EA_GTC=85,996,3074;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080504.2:coding-synonymous;ESP6500_GL=RBM44;ESP6500_GRCh38_POSITION=2:237824373;ESP6500_GTC=271,1787,4039;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080504.2:c.2406G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080504.2:p.(Q802);ESP6500_MAF=14.0313,29.9434,19.0996;ESP6500_TAC=2329,9865	GT:AD:DP:GQ:PL	0/1:31,14:45:99:327,0,772
chr2	237834194	rs55675197	T	C	785.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=1.366;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.15;ReadPosRankSum=0.637;SOR=1.101;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55675197;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|RBM44|RBM44|transcript|NM_001080504.2|protein_coding|14/15|c.3035+52T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.0356;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=13189;p3_1000G_EAS_AF=0.3869;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238742837;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=128,1708;ESP6500_AA_GTC=4,120,794;ESP6500_CDS_SIZES=NM_001080504.2:3159;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=31;ESP6500_EA_AC=581,3549;ESP6500_EA_GTC=39,503,1523;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080504.2:intron;ESP6500_GL=RBM44;ESP6500_GRCh38_POSITION=2:237834194;ESP6500_GTC=43,623,2317;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080504.2:c.3035+52T>C;ESP6500_MAF=14.0678,6.9717,11.884;ESP6500_TAC=709,5257	GT:AD:DP:GQ:PL	0/1:12,27:39:99:814,0,251
chr2	237986142	rs66771814	CT	C	114.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=1.53;SOR=0.595;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs66771814;dbSNPBuildID=130;ANN=C|sequence_feature|LOW|UBE2F|UBE2F|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001278307.1|protein_coding|2/7|c.118+12918delT||||||,C|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|2/18|n.323-1805delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278305.1|protein_coding|2/9|c.119-1805delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278306.1|protein_coding|1/8|c.47-1805delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278307.1|protein_coding|2/7|c.118+12933delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278308.1|protein_coding|2/8|c.119-1805delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_080678.2|protein_coding|2/9|c.119-1805delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103498.1|pseudogene|2/8|n.323-1805delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103499.1|pseudogene|2/7|n.323-1805delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103500.1|pseudogene|3/10|n.422-1805delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,7:8:0:149,0,0
chr2	237987852	rs59213280	C	CA	69.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=17.25;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59213280;dbSNPBuildID=129;ANN=CA|sequence_feature|LOW|UBE2F|UBE2F|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001278307.1|protein_coding|2/7|c.118+14627_118+14628insA||||||,CA|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|2/18|n.323-111_323-110insA||||||,CA|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278305.1|protein_coding|2/9|c.119-111_119-110insA||||||,CA|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278306.1|protein_coding|1/8|c.47-111_47-110insA||||||,CA|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278307.1|protein_coding|2/7|c.118+14627_118+14628insA||||||,CA|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278308.1|protein_coding|2/8|c.119-111_119-110insA||||||,CA|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_080678.2|protein_coding|2/9|c.119-111_119-110insA||||||,CA|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103498.1|pseudogene|2/8|n.323-111_323-110insA||||||,CA|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103499.1|pseudogene|2/7|n.323-111_323-110insA||||||,CA|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103500.1|pseudogene|3/10|n.422-111_422-110insA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3627;p3_1000G_AF=0.724241;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.7651;p3_1000G_AN=5008;p3_1000G_DP=15217;p3_1000G_EAS_AF=0.8403;p3_1000G_EUR_AF=0.7465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238896494;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:106,12,0
chr2	237994668	rs10203101	C	T	619.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10203101;dbSNPBuildID=119;ANN=T|sequence_feature|LOW|UBE2F|UBE2F|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_001278307.1|protein_coding|2/7|c.118+21443C>T||||||,T|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|3/18|n.353-76C>T||||||,T|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278305.1|protein_coding|3/9|c.149-76C>T||||||,T|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278306.1|protein_coding|2/8|c.77-76C>T||||||,T|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278307.1|protein_coding|2/7|c.118+21443C>T||||||,T|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278308.1|protein_coding|3/8|c.149-76C>T||||||,T|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_080678.2|protein_coding|3/9|c.149-76C>T||||||,T|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103498.1|pseudogene|3/8|n.353-76C>T||||||,T|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103499.1|pseudogene|3/7|n.353-76C>T||||||,T|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103500.1|pseudogene|4/10|n.452-76C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4248;p3_1000G_AF=0.848243;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=20044;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.836;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238903310;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:648,60,0
chr2	238025279	rs7560931	G	C	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.76;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.286;SOR=0.754;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7560931;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|4/18|n.419-5277G>C||||||,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278305.1|protein_coding|5/9|c.283-63G>C||||||,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278306.1|protein_coding|4/8|c.211-63G>C||||||,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278307.1|protein_coding|3/7|c.187-63G>C||||||,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278308.1|protein_coding|5/8|c.283-63G>C||||||,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_080678.2|protein_coding|5/9|c.283-63G>C||||||,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103498.1|pseudogene|4/8|n.419-63G>C||||||,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103499.1|pseudogene|5/7|n.487-63G>C||||||,C|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103500.1|pseudogene|6/10|n.586-63G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=277;p3_1000G_AF=0.0553115;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=21463;p3_1000G_EAS_AF=0.0357;p3_1000G_EUR_AF=0.0139;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238933920;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=123,1261;ESP6500_AA_GTC=3,117,572;ESP6500_CDS_SIZES=NM_080678.2:558;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=86;ESP6500_EA_AC=74,3108;ESP6500_EA_GTC=0,74,1517;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080678.2:intron;ESP6500_GL=UBE2F;ESP6500_GRCh38_POSITION=2:238025279;ESP6500_GTC=3,191,2089;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_080678.2:c.283-63G>C;ESP6500_MAF=2.3256,8.8873,4.3145;ESP6500_TAC=197,4369	GT:AD:DP:GQ:PL	0/1:14,8:22:99:232,0,497
chr2	238041102	rs708078	G	A	77.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.649;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.48;ReadPosRankSum=-0.023;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs708078;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|7/18|n.572+5162G>A||||||,A|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278305.1|protein_coding|9/9|c.508-186G>A||||||,A|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278306.1|protein_coding|8/8|c.436-186G>A||||||,A|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278307.1|protein_coding|7/7|c.412-186G>A||||||,A|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_001278308.1|protein_coding|8/8|c.445-186G>A||||||,A|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NM_080678.2|protein_coding|9/9|c.508-186G>A||||||,A|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103498.1|pseudogene|8/8|n.644-186G>A||||||,A|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103499.1|pseudogene|7/7|n.621-186G>A||||||,A|intron_variant|MODIFIER|UBE2F|UBE2F|transcript|NR_103500.1|pseudogene|10/10|n.811-186G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1755;p3_1000G_AF=0.350439;p3_1000G_AFR_AF=0.2693;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=21053;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.34;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238949743;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3569;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:106,0,257
chr2	238060931	rs11397122;rs397988368	T	TG	93.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.25;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11397122;dbSNPBuildID=135,138;ANN=TG|5_prime_UTR_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding|1/12|c.-96dupG|||||95|INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|8/18|n.666-3422dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGG|GGGG|GGGGG|deletion;p3_1000G_AC=5007;p3_1000G_AF=0.9998;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=11252;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238969572;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:130,12,0
chr2	238061323	rs2250185	T	C	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.286;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.504;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.737;SOR=1.087;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2250185;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|8/18|n.666-3034T>C||||||,C|intron_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding|1/11|c.113+180T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2268;p3_1000G_AF=0.452875;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=14108;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.3449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238969964;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,20:49:99:451,0,701
chr2	238082919	rs2278743	T	C	298.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.2;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278743;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|13/18|n.1354-329T>C||||||,C|intron_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding|6/11|c.802-329T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2312;p3_1000G_AF=0.461661;p3_1000G_AFR_AF=0.528;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=17831;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238991560;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:327,27,0
chr2	238083155	rs2278742	C	T	2101.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.19;SOR=0.807;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278742;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|13/18|n.1354-93C>T||||||,T|intron_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding|6/11|c.802-93C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2520;p3_1000G_AF=0.503195;p3_1000G_AFR_AF=0.5696;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=20272;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.5497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238991796;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2130,216,0
chr2	238091242	rs1128552	T	C	655.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.567;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=0.955;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.54;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1128552;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|SCLY|SCLY|transcript|NM_016510.5|protein_coding|8/12|c.933T>C|p.Ala311Ala|1040/2527|933/1362|311/453||,C|non_coding_transcript_exon_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|15/19|n.1485T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.2349;p3_1000G_AN=5008;p3_1000G_DP=18815;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.2177;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=238999883;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=866,3540;ESP6500_AA_AGE=744.4+/-411.6;ESP6500_AA_GTC=86,694,1423;ESP6500_CDS_SIZES=NM_016510.5:1362;ESP6500_CG=-3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=242;ESP6500_EA_AC=1927,6673;ESP6500_EA_AGE=726.6+/-406.6;ESP6500_EA_GTC=222,1483,2595;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016510.5:coding-synonymous;ESP6500_GL=SCLY;ESP6500_GRCh38_POSITION=2:238091242;ESP6500_GTC=308,2177,4018;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016510.5:c.933T>C;ESP6500_HGVS_PROTEIN_VAR=NM_016510.5:p.(A311);ESP6500_MAF=22.407,19.655,21.4747;ESP6500_TAC=2793,10213	GT:AD:DP:GQ:PL	0/1:33,30:63:99:684,0,752
chr2	238094619	rs41270749	G	C	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=-0.197;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41270749;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|17/18|n.1684+97G>C||||||,C|intron_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding|10/11|c.1132+97G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=566;p3_1000G_AF=0.113019;p3_1000G_AFR_AF=0.1876;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=16729;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239003260;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:300,0,173
chr2	238098238	rs12993309	C	T	1023.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.042;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.693;SOR=0.686;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12993309;dbSNPBuildID=121;ANN=T|synonymous_variant|LOW|SCLY|SCLY|transcript|NM_016510.5|protein_coding|12/12|c.1245C>T|p.Phe415Phe|1352/2527|1245/1362|415/453||,T|upstream_gene_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding||c.-2182C>T|||||2072|,T|non_coding_transcript_exon_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|19/19|n.1797C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1231;p3_1000G_AF=0.245807;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=15225;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.1968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239006879;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1169,3237;ESP6500_AA_AGE=388.9+/-327.1;ESP6500_AA_GTC=157,855,1191;ESP6500_CDS_SIZES=NM_016510.5:1362;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=35;ESP6500_EA_AC=1661,6937;ESP6500_EA_AGE=287.4+/-298.2;ESP6500_EA_GTC=156,1349,2794;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016510.5:coding-synonymous;ESP6500_GL=SCLY;ESP6500_GRCh38_POSITION=2:238098238;ESP6500_GTC=313,2204,3985;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_016510.5:c.1245C>T;ESP6500_HGVS_PROTEIN_VAR=NM_016510.5:p.(F415);ESP6500_MAF=19.3184,26.532,21.7625;ESP6500_TAC=2830,10174	GT:AD:DP:GQ:PL	0/1:25,41:66:99:1052,0,563
chr2	238099114	rs3841572;rs68159827	CATT	C	237.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.682;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.81;ReadPosRankSum=-1.539;SOR=0.293;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs68159827,rs3841572;dbSNPBuildID=130,130;ANN=C|3_prime_UTR_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding|12/12|c.*764_*766delTTA|||||764|INFO_REALIGN_3_PRIME,C|upstream_gene_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding||c.-1305_-1303delATT|||||1195|,C|non_coding_transcript_exon_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|19/19|n.2678_2680delTTA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2659;p3_1000G_AF=0.53095;p3_1000G_AFR_AF=0.503;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=15973;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.6521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239007755;p3_1000G_GRCH37_REF=CATT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,7:12:99:275,0,189
chr2	238099165	rs1054640	A	G	805.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.99;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1054640;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding|12/12|c.*810A>G|||||810|,G|upstream_gene_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding||c.-1255A>G|||||1145|,G|non_coding_transcript_exon_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|19/19|n.2724A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3314;p3_1000G_AF=0.661741;p3_1000G_AFR_AF=0.7413;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=17244;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.6869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239007806;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:834,78,0
chr2	238099356	rs3816347	A	G	362.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.318;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.069;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-1.971;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816347;dbSNPBuildID=107;ANN=G|3_prime_UTR_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding|12/12|c.*1001A>G|||||1001|,G|upstream_gene_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding||c.-1064A>G|||||954|,G|non_coding_transcript_exon_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene|19/19|n.2915A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=525;p3_1000G_AF=0.104832;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=18166;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239007997;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,16:36:99:391,0,570
chr2	238099426	rs3816348	G	A	219.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.477;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=2.69;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816348;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding||c.-994G>A|||||884|,A|downstream_gene_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene||n.*13G>A|||||13|,A|downstream_gene_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding||c.*1071G>A|||||13|,A|intergenic_region|MODIFIER|UBE2F-SCLY-ESPNL|UBE2F-SCLY-ESPNL|intergenic_region|UBE2F-SCLY-ESPNL|||n.238099426G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=668;p3_1000G_AF=0.133387;p3_1000G_AFR_AF=0.202;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=15791;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.0596;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239008067;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0808;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:248,0,242
chr2	238101787	rs59060082	T	C	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.08;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=14.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.649;SOR=4.235;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59060082;dbSNPBuildID=129;ANN=C|downstream_gene_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene||n.*2374T>C|||||2374|,C|downstream_gene_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding||c.*3432T>C|||||2374|,C|intron_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|1/8|c.295-154T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1150;p3_1000G_AF=0.229633;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.0793;p3_1000G_AN=5008;p3_1000G_DP=18022;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239010428;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:346,0,272
chr2	238102078	rs36066915	T	C	438.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.644;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=5.684;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.39;SOR=1.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36066915;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|2/9|c.432T>C|p.Ala144Ala|542/4683|432/3018|144/1005||,C|downstream_gene_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene||n.*2665T>C|||||2665|,C|downstream_gene_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding||c.*3723T>C|||||2665|;p3_1000G_AA=C|||;p3_1000G_AC=3051;p3_1000G_AF=0.609225;p3_1000G_AFR_AF=0.5635;p3_1000G_AMR_AF=0.5692;p3_1000G_AN=5008;p3_1000G_DP=13875;p3_1000G_EAS_AF=0.5903;p3_1000G_EUR_AF=0.6988;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239010719;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6268;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2656,1670;ESP6500_AA_GTC=873,910,380;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=10;ESP6500_EA_AC=5553,2921;ESP6500_EA_GTC=1889,1775,573;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:coding-synonymous;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238102078;ESP6500_GTC=2762,2685,953;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.432T>C;ESP6500_HGVS_PROTEIN_VAR=NM_194312.2:p.(A144);ESP6500_MAF=34.4701,38.6038,35.8672;ESP6500_TAC=8209,4591	GT:AD:DP:GQ:PL	0/1:10,19:29:99:467,0,187
chr2	238102155	rs10186290	G	C	210.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.572;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.616;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=-0.431;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10186290;dbSNPBuildID=119;ANN=C|downstream_gene_variant|MODIFIER|UBE2F-SCLY|UBE2F-SCLY|transcript|NR_037904.1|pseudogene||n.*2742G>C|||||2742|,C|downstream_gene_variant|MODIFIER|SCLY|SCLY|transcript|NM_016510.5|protein_coding||c.*3800G>C|||||2742|,C|intron_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|2/8|c.485+24G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1385;p3_1000G_AF=0.276558;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=16401;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.0606;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239010796;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0982;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1344,2552;ESP6500_AA_GTC=217,910,821;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=4;ESP6500_EA_AC=345,7475;ESP6500_EA_GTC=14,317,3579;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:intron;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238102155;ESP6500_GTC=231,1227,4400;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.485+24G>C;ESP6500_MAF=4.4118,34.4969,14.4162;ESP6500_TAC=1689,10027	GT:AD:DP:GQ:PL	0/1:4,8:12:99:239,0,133
chr2	238107898	rs935415	C	G	3116.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=96;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=0.778;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs935415;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|4/9|c.780C>G|p.Leu260Leu|890/4683|780/3018|260/1005||;p3_1000G_AA=G|||;p3_1000G_AC=3740;p3_1000G_AF=0.746805;p3_1000G_AFR_AF=0.8253;p3_1000G_AMR_AF=0.6816;p3_1000G_AN=5008;p3_1000G_DP=20948;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.7346;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239016539;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7331;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3523,875;ESP6500_AA_AGE=332.0+/-302.3;ESP6500_AA_GTC=1417,689,93;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=1.0;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=31;ESP6500_EA_AC=6007,2593;ESP6500_EA_AGE=410.4+/-350.2;ESP6500_EA_GTC=2077,1853,370;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:coding-synonymous;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238107898;ESP6500_GTC=3494,2542,463;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.780C>G;ESP6500_HGVS_PROTEIN_VAR=NM_194312.2:p.(L260);ESP6500_MAF=30.1512,19.8954,26.681;ESP6500_TAC=9530,3468	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3145,288,0
chr2	238116882	rs11903074	T	C	1212.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11903074;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|4/8|c.856-21T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4221;p3_1000G_AF=0.842851;p3_1000G_AFR_AF=0.8722;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=17786;p3_1000G_EAS_AF=0.8234;p3_1000G_EUR_AF=0.8608;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239025523;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3767,635;ESP6500_AA_AGE=271.3+/-270.1;ESP6500_AA_GTC=1622,523,56;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=78;ESP6500_EA_AC=7304,1292;ESP6500_EA_AGE=255.0+/-280.0;ESP6500_EA_GTC=3102,1100,96;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:intron;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238116882;ESP6500_GTC=4724,1623,152;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.856-21T>C;ESP6500_MAF=15.0302,14.4253,14.8254;ESP6500_TAC=11071,1927	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1241,114,0
chr2	238125260	rs10172440	T	C	260.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.78;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.15;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10172440;dbSNPBuildID=119;ANN=C|upstream_gene_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding||c.-2364T>C|||||2130|,C|intron_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|5/8|c.988-10T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2815;p3_1000G_AF=0.562101;p3_1000G_AFR_AF=0.8396;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=14770;p3_1000G_EAS_AF=0.5704;p3_1000G_EUR_AF=0.328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239033901;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3133,1157;ESP6500_AA_GTC=1174,785,186;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=34;ESP6500_EA_AC=2882,5550;ESP6500_EA_GTC=546,1790,1880;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:intron;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238125260;ESP6500_GTC=1720,2575,2066;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.988-10T>C;ESP6500_MAF=34.1793,26.9697,47.2803;ESP6500_TAC=6015,6707	GT:AD:DP:GQ:PL	0/1:12,9:21:99:289,0,290
chr2	238125402	rs10170048	A	C	565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.78;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10170048;dbSNPBuildID=119;ANN=C|upstream_gene_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding||c.-2222A>C|||||1988|,C|intron_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|6/8|c.1102+18A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3196;p3_1000G_AF=0.638179;p3_1000G_AFR_AF=0.8676;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=14219;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.4046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239034043;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6125;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3390,914;ESP6500_AA_GTC=1362,666,124;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=17;ESP6500_EA_AC=3698,4782;ESP6500_EA_GTC=892,1914,1434;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:intron;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238125402;ESP6500_GTC=2254,2580,1558;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.1102+18A>C;ESP6500_MAF=43.6085,21.2361,44.5557;ESP6500_TAC=7088,5696	GT:AD:DP:GQ:PL	1/1:0,19:19:57:594,57,0
chr2	238127775	rs12692214	T	C	1420.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.86;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12692214;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|7/8|c.1215+41T>C||||||,C|intron_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|2/3|c.111+41T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4233;p3_1000G_AF=0.845248;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=13727;p3_1000G_EAS_AF=0.8244;p3_1000G_EUR_AF=0.8549;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239036416;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8374;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3832,522;ESP6500_AA_GTC=1697,438,42;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=1.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=13;ESP6500_EA_AC=7273,1283;ESP6500_EA_GTC=3092,1089,97;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:intron;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238127775;ESP6500_GTC=4789,1527,139;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.1215+41T>C;ESP6500_MAF=14.9953,11.989,13.9814;ESP6500_TAC=11105,1805	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1449,114,0
chr2	238130416	rs13033248	A	G	526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=0.335;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13033248;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|9/9|c.1702A>G|p.Ile568Val|1812/4683|1702/3018|568/1005||,G|missense_variant|MODERATE|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|4/4|c.598A>G|p.Ile200Val|739/3610|598/1914|200/637||;p3_1000G_AA=A|||;p3_1000G_AC=1976;p3_1000G_AF=0.394569;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=14221;p3_1000G_EAS_AF=0.4444;p3_1000G_EUR_AF=0.3847;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239039057;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1561,2787;ESP6500_AA_GTC=305,951,918;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=11;ESP6500_EA_AC=3366,5156;ESP6500_EA_GTC=703,1960,1598;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:missense;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238130416;ESP6500_GS=29;ESP6500_GTC=1008,2911,2516;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.1702A>G;ESP6500_HGVS_PROTEIN_VAR=NM_194312.2:p.(I568V);ESP6500_MAF=39.4978,35.9016,38.2828;ESP6500_PH=benign:0.0;ESP6500_TAC=4927,7943	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,15:29:99:0|1:238130416_A_G:555,0,867
chr2	238130434	rs13006204	G	T	499.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.312;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.471;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.592;SOR=1.574;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13006204;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|9/9|c.1720G>T|p.Ala574Ser|1830/4683|1720/3018|574/1005||,T|missense_variant|MODERATE|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|4/4|c.616G>T|p.Ala206Ser|757/3610|616/1914|206/637||;p3_1000G_AA=G|||;p3_1000G_AC=1954;p3_1000G_AF=0.390176;p3_1000G_AFR_AF=0.3411;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=13997;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.3827;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239039075;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4131;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1547,2753;ESP6500_AA_GTC=314,919,917;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=9;ESP6500_EA_AC=3307,5193;ESP6500_EA_GTC=687,1933,1630;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:missense;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238130434;ESP6500_GS=99;ESP6500_GTC=1001,2852,2547;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.1720G>T;ESP6500_HGVS_PROTEIN_VAR=NM_194312.2:p.(A574S);ESP6500_MAF=38.9059,35.9767,37.9219;ESP6500_PH=benign:0.018;ESP6500_TAC=4854,7946	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,14:29:99:0|1:238130416_A_G:528,0,881
chr2	238130996	rs4663845	T	C	582.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4663845;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|9/9|c.2282T>C|p.Val761Ala|2392/4683|2282/3018|761/1005||,C|missense_variant|MODERATE|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|4/4|c.1178T>C|p.Val393Ala|1319/3610|1178/1914|393/637||;p3_1000G_AA=C|||;p3_1000G_AC=4325;p3_1000G_AF=0.863618;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=13830;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.7256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239039637;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3462,136;ESP6500_AA_GTC=1667,128,4;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=2.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=3;ESP6500_EA_AC=5885,1463;ESP6500_EA_GTC=2323,1239,112;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194312.2:missense;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238130996;ESP6500_GS=64;ESP6500_GTC=3990,1367,116;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.2282T>C;ESP6500_HGVS_PROTEIN_VAR=NM_194312.2:p.(V761A);ESP6500_MAF=19.9102,3.7799,14.6081;ESP6500_PH=benign:0.0;ESP6500_TAC=9347,1599	GT:AD:DP:GQ:PL	1/1:0,18:18:54:611,54,0
chr2	238131200	rs10172220	A	G	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.33;ReadPosRankSum=2.07;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10172220;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|9/9|c.2486A>G|p.Gln829Arg|2596/4683|2486/3018|829/1005||,G|missense_variant|MODERATE|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|4/4|c.1382A>G|p.Gln461Arg|1523/3610|1382/1914|461/637||;p3_1000G_AA=G|||;p3_1000G_AC=2657;p3_1000G_AF=0.530551;p3_1000G_AFR_AF=0.6354;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=12102;p3_1000G_EAS_AF=0.5466;p3_1000G_EUR_AF=0.4652;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239039841;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.546;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1950,1908;ESP6500_AA_GTC=580,790,559;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=2.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=3;ESP6500_EA_AC=3173,4537;ESP6500_EA_GTC=778,1617,1460;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:missense;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238131200;ESP6500_GS=43;ESP6500_GTC=1358,2407,2019;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.2486A>G;ESP6500_HGVS_PROTEIN_VAR=NM_194312.2:p.(Q829R);ESP6500_MAF=41.1543,49.4557,44.286;ESP6500_PH=benign:0.0;ESP6500_TAC=5123,6445	GT:AD:DP:GQ:PL	0/1:23,10:33:99:204,0,531
chr2	238131255	rs10182906	G	C	834.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10182906;dbSNPBuildID=119;ANN=C|synonymous_variant|LOW|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|9/9|c.2541G>C|p.Pro847Pro|2651/4683|2541/3018|847/1005||,C|synonymous_variant|LOW|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|4/4|c.1437G>C|p.Pro479Pro|1578/3610|1437/1914|479/637||;p3_1000G_AA=C|||;p3_1000G_AC=4321;p3_1000G_AF=0.862819;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.7968;p3_1000G_AN=5008;p3_1000G_DP=14119;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.7276;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239039896;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4108,224;ESP6500_AA_GTC=1950,208,8;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=-3.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=9;ESP6500_EA_AC=6439,2123;ESP6500_EA_GTC=2448,1543,290;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:coding-synonymous;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238131255;ESP6500_GTC=4398,1751,298;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.2541G>C;ESP6500_HGVS_PROTEIN_VAR=NM_194312.2:p.(P847);ESP6500_MAF=24.7956,5.1708,18.2023;ESP6500_TAC=10547,2347	GT:AD:DP:GQ:PL	1/1:0,28:28:84:863,84,0
chr2	238131546	rs12692215	T	C	1488.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=1.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12692215;dbSNPBuildID=121;ANN=C|synonymous_variant|LOW|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|9/9|c.2832T>C|p.Gly944Gly|2942/4683|2832/3018|944/1005||,C|synonymous_variant|LOW|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|4/4|c.1728T>C|p.Gly576Gly|1869/3610|1728/1914|576/637||;p3_1000G_AA=C|||;p3_1000G_AC=4332;p3_1000G_AF=0.865016;p3_1000G_AFR_AF=0.9788;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=14064;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.7326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239040187;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4156,232;ESP6500_AA_GTC=1973,210,11;ESP6500_CDS_SIZES=NM_194312.2:3018;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=14;ESP6500_EA_AC=6427,2149;ESP6500_EA_GTC=2435,1557,296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194312.2:coding-synonymous;ESP6500_GL=ESPNL;ESP6500_GRCh38_POSITION=2:238131546;ESP6500_GTC=4408,1767,307;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194312.2:c.2832T>C;ESP6500_HGVS_PROTEIN_VAR=NM_194312.2:p.(G944);ESP6500_MAF=25.0583,5.2871,18.3662;ESP6500_TAC=10583,2381	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1517,135,0
chr2	238132067	rs11695472	C	A	2313.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=0.719;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11695472;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|9/9|c.*335C>A|||||335|,A|3_prime_UTR_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|4/4|c.*335C>A|||||335|;p3_1000G_AA=A|||;p3_1000G_AC=4287;p3_1000G_AF=0.85603;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=20173;p3_1000G_EAS_AF=0.9276;p3_1000G_EUR_AF=0.7097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239040708;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2342,230,0
chr2	238132265	rs35857491	C	T	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.204;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.022;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35857491;dbSNPBuildID=126;ANN=T|3_prime_UTR_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_194312.3|protein_coding|9/9|c.*533C>T|||||533|,T|3_prime_UTR_variant|MODIFIER|ESPNL|ESPNL|transcript|NM_001308370.1|protein_coding|4/4|c.*533C>T|||||533|;p3_1000G_AA=C|||;p3_1000G_AC=789;p3_1000G_AF=0.157548;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=18867;p3_1000G_EAS_AF=0.2976;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239040906;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,14:36:99:0|1:238132263_G_T:354,0,611
chr2	238140899	rs2241985	G	A	566.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.472;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.435;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241985;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|2/8|c.145G>A|p.Gly49Ser|252/3685|145/1737|49/578||;p3_1000G_AA=G|||;p3_1000G_AC=1935;p3_1000G_AF=0.386382;p3_1000G_AFR_AF=0.3812;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=17698;p3_1000G_EAS_AF=0.3938;p3_1000G_EUR_AF=0.3847;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239049540;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3773;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1662,2602;ESP6500_AA_GTC=333,996,803;ESP6500_CDS_SIZES=NM_198582.3:1737;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=46;ESP6500_EA_AC=3261,5177;ESP6500_EA_GTC=633,1995,1591;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198582.3:missense;ESP6500_GL=KLHL30;ESP6500_GRCh38_POSITION=2:238140899;ESP6500_GS=56;ESP6500_GTC=966,2991,2394;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_198582.3:c.145G>A;ESP6500_HGVS_PROTEIN_VAR=NM_198582.3:p.(G49S);ESP6500_MAF=38.6466,38.9775,38.7577;ESP6500_PH=benign:0.094;ESP6500_TAC=4923,7779	GT:AD:DP:GQ:PL	0/1:31,23:54:99:595,0,850
chr2	238141392	rs12692216	C	T	1298.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.47;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12692216;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|2/8|c.638C>T|p.Ala213Val|745/3685|638/1737|213/578||;p3_1000G_AA=c|||;p3_1000G_AC=3648;p3_1000G_AF=0.728435;p3_1000G_AFR_AF=0.7307;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=17390;p3_1000G_EAS_AF=0.872;p3_1000G_EUR_AF=0.6103;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239050033;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7065;p3_1000G_VT=SNP;ESP6500_AA_AC=3105,979;ESP6500_AA_GTC=1211,683,148;ESP6500_CDS_SIZES=NM_198582.3:1737;ESP6500_CG=2.7;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=8;ESP6500_EA_AC=5215,3071;ESP6500_EA_GTC=1727,1761,655;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198582.3:missense;ESP6500_GL=KLHL30;ESP6500_GRCh38_POSITION=2:238141392;ESP6500_GS=64;ESP6500_GTC=2938,2444,803;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198582.3:c.638C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198582.3:p.(A213V);ESP6500_MAF=37.0625,23.9716,32.7405;ESP6500_PH=benign:0.0;ESP6500_TAC=8320,4050	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1327,120,0
chr2	238141548	rs376798084	G	T	436.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.714;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.84;ReadPosRankSum=-0.299;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376798084;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|2/7|c.774+20G>T||||||	GT:AD:DP:GQ:PL	0/1:3,17:20:68:465,0,68
chr2	238142909	rs935411	T	C	1051.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs935411;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|3/8|c.885T>C|p.Phe295Phe|992/3685|885/1737|295/578||;p3_1000G_AA=C|||;p3_1000G_AC=4676;p3_1000G_AF=0.933706;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=0.8948;p3_1000G_AN=5008;p3_1000G_DP=17288;p3_1000G_EAS_AF=0.9335;p3_1000G_EUR_AF=0.8648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239051550;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9642;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3993,113;ESP6500_AA_GTC=1940,113,0;ESP6500_CDS_SIZES=NM_198582.3:1737;ESP6500_CG=-2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=36;ESP6500_EA_AC=7447,925;ESP6500_EA_GTC=3318,811,57;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198582.3:coding-synonymous;ESP6500_GL=KLHL30;ESP6500_GRCh38_POSITION=2:238142909;ESP6500_GTC=5258,924,57;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198582.3:c.885T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198582.3:p.(F295);ESP6500_MAF=11.0487,2.7521,8.3186;ESP6500_TAC=11440,1038	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1080,105,0
chr2	238144795	rs12623661	G	C	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.83;SOR=2.531;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12623661;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|3/7|c.908-107G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3294;p3_1000G_AF=0.657748;p3_1000G_AFR_AF=0.6936;p3_1000G_AMR_AF=0.6383;p3_1000G_AN=5008;p3_1000G_DP=14761;p3_1000G_EAS_AF=0.6429;p3_1000G_EUR_AF=0.6292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239053436;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:765,60,0
chr2	238145044	rs13013945	A	C	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.603;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.444;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.869;SOR=0.471;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13013945;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|4/7|c.994+56A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2367;p3_1000G_AF=0.472644;p3_1000G_AFR_AF=0.4387;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=19555;p3_1000G_EAS_AF=0.4464;p3_1000G_EUR_AF=0.505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239053685;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=626,758;ESP6500_AA_GTC=146,334,212;ESP6500_CDS_SIZES=NM_198582.3:1737;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=29;ESP6500_EA_AC=1652,1530;ESP6500_EA_GTC=445,762,384;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198582.3:intron;ESP6500_GL=KLHL30;ESP6500_GRCh38_POSITION=2:238145044;ESP6500_GTC=591,1096,596;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_198582.3:c.994+56A>C;ESP6500_MAF=48.083,45.2312,49.8905;ESP6500_TAC=2278,2288	GT:AD:DP:GQ:PL	0/1:16,24:40:99:644,0,450
chr2	238145863	rs11674140	G	T	1504.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.71;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11674140;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|5/7|c.1150+31G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=3692;p3_1000G_AF=0.73722;p3_1000G_AFR_AF=0.6823;p3_1000G_AMR_AF=0.6873;p3_1000G_AN=5008;p3_1000G_DP=16888;p3_1000G_EAS_AF=0.7956;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239054504;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2960,1102;ESP6500_AA_GTC=1085,790,156;ESP6500_CDS_SIZES=NM_198582.3:1737;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=17;ESP6500_EA_AC=6127,2223;ESP6500_EA_GTC=2273,1581,321;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198582.3:intron;ESP6500_GL=KLHL30;ESP6500_GRCh38_POSITION=2:238145863;ESP6500_GTC=3358,2371,477;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_198582.3:c.1150+31G>T;ESP6500_MAF=26.6228,27.1295,26.7886;ESP6500_TAC=9087,3325	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1533,138,0
chr2	238148105	rs11674655	T	G	142.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11674655;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|6/7|c.1339+83T>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2320;p3_1000G_AF=0.463259;p3_1000G_AFR_AF=0.5522;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=11374;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239056746;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:171,15,0
chr2	238150843	rs7605194	T	C	1709.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7605194;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|8/8|c.1515T>C|p.Asn505Asn|1622/3685|1515/1737|505/578||;p3_1000G_AA=C|||;p3_1000G_AC=4299;p3_1000G_AF=0.858427;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.7824;p3_1000G_AN=5008;p3_1000G_DP=16744;p3_1000G_EAS_AF=0.9256;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239059484;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8476;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4102,260;ESP6500_AA_GTC=1930,242,9;ESP6500_CDS_SIZES=NM_198582.3:1737;ESP6500_CG=-0.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=22;ESP6500_EA_AC=6212,2312;ESP6500_EA_GTC=2258,1696,308;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198582.3:coding-synonymous;ESP6500_GL=KLHL30;ESP6500_GRCh38_POSITION=2:238150843;ESP6500_GTC=4188,1938,317;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198582.3:c.1515T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198582.3:p.(N505);ESP6500_MAF=27.1234,5.9606,19.9596;ESP6500_TAC=10314,2572	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1738,165,0
chr2	238150914	rs779527231	A	G	887.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.552;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=1.989;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.475;SOR=0.867;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=G|missense_variant|MODERATE|KLHL30|KLHL30|transcript|NM_198582.3|protein_coding|8/8|c.1586A>G|p.Tyr529Cys|1693/3685|1586/1737|529/578||	GT:AD:DP:GQ:PL	0/1:31,38:69:99:916,0,711
chr2	238161893	rs12618914	G	A	524.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.095;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.87;ReadPosRankSum=-1.892;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12618914;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ERFE|ERFE|transcript|NM_001291832.1|protein_coding|2/7|c.321+177G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=947;p3_1000G_AF=0.189097;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=18226;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.162;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239070534;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0992;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,16:24:99:553,0,257
chr2	238164141	rs566703949	C	G	268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.234;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.22;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|missense_variant|MODERATE|ERFE|ERFE|transcript|NM_001291832.1|protein_coding|5/8|c.754C>G|p.Pro252Ala|754/2902|754/1065|252/354||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=8411;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239072782;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:297,0,324
chr2	238173525	rs3832064	G	GC	1168.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=1.483;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3832064;dbSNPBuildID=107;ANN=GC|splice_region_variant&intron_variant|LOW|ILKAP|ILKAP|transcript|NM_030768.2|protein_coding|10/11|c.956+8dupG||||||,GC|downstream_gene_variant|MODIFIER|ERFE|ERFE|transcript|NM_001291832.1|protein_coding||c.*6471_*6472insC|||||4635|;p3_1000G_AA=CCC|CC|CCC|deletion;p3_1000G_AC=4364;p3_1000G_AF=0.871406;p3_1000G_AFR_AF=0.8427;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=19186;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.8241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239082166;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=INDEL;ESP6500_AA_AC=3508,758;ESP6500_AA_GTC=1442,624,67;ESP6500_CDS_SIZES=NM_030768.2:1179;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=72;ESP6500_EA_AC=6715,1539;ESP6500_EA_GTC=2731,1253,143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030768.2:intron;ESP6500_GL=ILKAP;ESP6500_GRCh38_POSITION=2:238173525;ESP6500_GTC=4173,1877,210;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_030768.2:c.956+8_956+9insG;ESP6500_MAF=18.6455,17.7684,18.3466;ESP6500_TAC=10223,2297	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1206,105,0
chr2	238185147	rs6431588	T	C	1067.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6431588;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ILKAP|ILKAP|transcript|NM_030768.2|protein_coding|6/11|c.532+34A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4520;p3_1000G_AF=0.902556;p3_1000G_AFR_AF=0.9054;p3_1000G_AMR_AF=0.8934;p3_1000G_AN=5008;p3_1000G_DP=20285;p3_1000G_EAS_AF=0.994;p3_1000G_EUR_AF=0.829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239093788;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8865;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3906,496;ESP6500_AA_AGE=218.7+/-236.7;ESP6500_AA_GTC=1735,436,30;ESP6500_CDS_SIZES=NM_030768.2:1179;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=82;ESP6500_EA_AC=7068,1532;ESP6500_EA_AGE=277.5+/-292.9;ESP6500_EA_GTC=2903,1262,135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_030768.2:intron;ESP6500_GL=ILKAP;ESP6500_GRCh38_POSITION=2:238185147;ESP6500_GTC=4638,1698,165;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_030768.2:c.532+34A>G;ESP6500_MAF=17.814,11.2676,15.5976;ESP6500_TAC=10974,2028	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1096,99,0
chr2	238232864	rs11689432	A	G	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.021;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=1.31;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11689432;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|LOC151174|LOC151174|transcript|NR_026925.1|pseudogene||n.-1187T>C|||||1187|,G|upstream_gene_variant|MODIFIER|LOC151174|LOC151174|transcript|NR_026926.1|pseudogene||n.-1187T>C|||||1187|,G|non_coding_transcript_exon_variant|MODIFIER|LOC643387|LOC643387|transcript|NR_026923.1|pseudogene|1/1|n.1179A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2644;p3_1000G_AF=0.527955;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=18489;p3_1000G_EAS_AF=0.3472;p3_1000G_EUR_AF=0.5388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239141505;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:153,0,133
chr2	238240355	rs140615710;rs543872256	CCCGT	C	103.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=0.379;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs72211667,rs140615710;dbSNPBuildID=134,142;ANN=C|upstream_gene_variant|MODIFIER|HES6|HES6|transcript|NM_018645.5|protein_coding||c.-454_-451delACGG|||||232|,C|upstream_gene_variant|MODIFIER|HES6|HES6|transcript|NM_001142853.2|protein_coding||c.-454_-451delACGG|||||232|,C|upstream_gene_variant|MODIFIER|HES6|HES6|transcript|NM_001282434.1|protein_coding||c.-454_-451delACGG|||||232|,C|downstream_gene_variant|MODIFIER|PER2|PER2|transcript|NM_022817.2|protein_coding||c.*6016_*6019delACGG|||||3682|,C|intergenic_region|MODIFIER|HES6-PER2|HES6-PER2|intergenic_region|HES6-PER2|||n.238240356_238240359delCCGT||||||;p3_1000G_AC=2669;p3_1000G_AF=0.532947;p3_1000G_AFR_AF=0.7345;p3_1000G_AMR_AF=0.4395;p3_1000G_AN=5008;p3_1000G_DP=12493;p3_1000G_EAS_AF=0.3492;p3_1000G_EUR_AF=0.5388;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239148996;p3_1000G_GRCH37_REF=CCCGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,4:13:99:141,0,472
chr2	238250537	rs3739062	C	T	450.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.444;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=6.683;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.31;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3739062;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|PER2|PER2|transcript|NM_022817.2|protein_coding|21/22|c.3467+14G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=87;p3_1000G_AF=0.0173722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=20003;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239159178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0286;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1,4403;ESP6500_AA_AGE=2.1+/-5.4;ESP6500_AA_GTC=0,1,2201;ESP6500_CDS_SIZES=NM_022817.2:3768;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=54;ESP6500_EA_AC=6,8594;ESP6500_EA_AGE=5.0+/-18.6;ESP6500_EA_GTC=0,6,4294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022817.2:intron;ESP6500_GL=PER2;ESP6500_GRCh38_POSITION=2:238250537;ESP6500_GTC=0,7,6495;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022817.2:c.3467+14G>A;ESP6500_MAF=0.0698,0.0227,0.0538;ESP6500_TAC=7,12997	GT:AD:DP:GQ:PL	0/1:11,19:30:99:479,0,334
chr2	238251778	rs77082809	C	A	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.951;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-1.573;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77082809;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|PER2|PER2|transcript|NM_022817.2|protein_coding|19/22|c.3112-17G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=56;p3_1000G_AF=0.0111821;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12041;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0.0129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239160419;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_022817.2:3768;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=124;ESP6500_EA_AC=6,8594;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=0,6,4294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022817.2:intron;ESP6500_GL=PER2;ESP6500_GRCh38_POSITION=2:238251778;ESP6500_GTC=0,6,6497;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_022817.2:c.3112-17G>T;ESP6500_MAF=0.0698,0.0,0.0461;ESP6500_TAC=6,13000	GT:AD:DP:GQ:PL	0/1:14,8:22:99:211,0,428
chr2	238256992	rs2304671	C	T	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.155;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.657;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.447;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304671;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|PER2|PER2|transcript|NM_022817.2|protein_coding|17/23|c.1995G>A|p.Ser665Ser|2232/6342|1995/3768|665/1255||;p3_1000G_AA=C|||;p3_1000G_AC=401;p3_1000G_AF=0.0800719;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=14333;p3_1000G_EAS_AF=0.1062;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239165633;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=269,4137;ESP6500_AA_AGE=151.8+/-185.6;ESP6500_AA_GTC=10,249,1944;ESP6500_CDS_SIZES=NM_022817.2:3768;ESP6500_CG=2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=440,8160;ESP6500_EA_AGE=134.1+/-191.5;ESP6500_EA_GTC=12,416,3872;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022817.2:coding-synonymous;ESP6500_GL=PER2;ESP6500_GRCh38_POSITION=2:238256992;ESP6500_GTC=22,665,5816;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022817.2:c.1995G>A;ESP6500_HGVS_PROTEIN_VAR=NM_022817.2:p.(S665);ESP6500_MAF=5.1163,6.1053,5.4513;ESP6500_TAC=709,12297	GT:AD:DP:GQ:PL	0/1:15,12:27:99:308,0,404
chr2	238271273	rs2304676	G	A	596.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.076;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=3.377;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-0.308;SOR=0.256;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304676;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|PER2|PER2|transcript|NM_022817.2|protein_coding|6/22|c.772+39C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=492;p3_1000G_AF=0.0982428;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=16544;p3_1000G_EAS_AF=0.2351;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239179914;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1237;p3_1000G_VT=SNP;ESP6500_AA_AC=55,4351;ESP6500_AA_AGE=54.2+/-90.2;ESP6500_AA_GTC=0,55,2148;ESP6500_CDS_SIZES=NM_022817.2:3768;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=81;ESP6500_EA_AC=439,8161;ESP6500_EA_AGE=133.5+/-191.0;ESP6500_EA_GTC=12,415,3873;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022817.2:intron;ESP6500_GL=PER2;ESP6500_GRCh38_POSITION=2:238271273;ESP6500_GTC=12,470,6021;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022817.2:c.772+39C>T;ESP6500_MAF=5.1047,1.2483,3.7982;ESP6500_TAC=494,12512	GT:AD:DP:GQ:PL	0/1:20,22:42:99:625,0,556
chr2	238273263	rs2304674	A	G	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.228;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.097;SOR=0.32;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304674;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|PER2|PER2|transcript|NM_022817.2|protein_coding|4/22|c.449-72T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1746;p3_1000G_AF=0.348642;p3_1000G_AFR_AF=0.5227;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=19145;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.2952;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239181904;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:286,0,329
chr2	238275940	rs10462023	G	A	370.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.94;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=4.091;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.74;SOR=0.144;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10462023;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|PER2|PER2|transcript|NM_022817.2|protein_coding|3/22|c.294-43C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1130;p3_1000G_AF=0.225639;p3_1000G_AFR_AF=0.0393;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=20460;p3_1000G_EAS_AF=0.2292;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239184581;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=409,3997;ESP6500_AA_AGE=184.7+/-212.0;ESP6500_AA_GTC=16,377,1810;ESP6500_CDS_SIZES=NM_022817.2:3768;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=99;ESP6500_EA_AC=3207,5393;ESP6500_EA_AGE=457.2+/-364.3;ESP6500_EA_GTC=590,2027,1683;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022817.2:intron;ESP6500_GL=PER2;ESP6500_GRCh38_POSITION=2:238275940;ESP6500_GTC=606,2404,3493;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_022817.2:c.294-43C>T;ESP6500_MAF=37.2907,9.2828,27.8026;ESP6500_TAC=3616,9390	GT:AD:DP:GQ:PL	0/1:15,15:30:99:399,0,449
chr2	238320731	rs13398676	C	A	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.21;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=2.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-0.531;SOR=1.17;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13398676;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|1/17|c.69C>A|p.Thr23Thr|188/4176|69/2076|23/691||,A|synonymous_variant|LOW|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|1/15|c.69C>A|p.Thr23Thr|188/3978|69/1878|23/625||;p3_1000G_AA=A|||;p3_1000G_AC=3331;p3_1000G_AF=0.665136;p3_1000G_AFR_AF=0.7284;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=5556;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.7425;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239229372;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2278,752;ESP6500_AA_GTC=866,546,103;ESP6500_CDS_SIZES=NM_015650.3:2076,NM_001139490.1:1878;ESP6500_CG=-5.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=13;ESP6500_EA_AC=4268,1308;ESP6500_EA_GTC=1641,986,161;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015650.3:coding-synonymous,NM_001139490.1:coding-synonymous;ESP6500_GL=TRAF3IP1;ESP6500_GRCh38_POSITION=2:238320731;ESP6500_GTC=2507,1532,264;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015650.3:c.69C>A,NM_001139490.1:c.69C>A;ESP6500_HGVS_PROTEIN_VAR=NM_015650.3:p.(T23),NM_001139490.1:p.(T23);ESP6500_MAF=23.4577,24.8185,23.9368;ESP6500_TAC=6546,2060	GT:AD:DP:GQ:PL	0/1:3,6:9:63:175,0,63
chr2	238325468	rs6723560	T	C	154.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.78;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.772;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.378;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6723560;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|2/16|c.192+94T>C||||||,C|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|2/14|c.192+94T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=817;p3_1000G_AF=0.163139;p3_1000G_AFR_AF=0.3654;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=16504;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239234109;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:183,0,314
chr2	238329110	rs3769110	A	G	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.37;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=1.88;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3769110;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|5/17|c.683A>G|p.Asn228Ser|802/4176|683/2076|228/691||,G|missense_variant|MODERATE|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|5/15|c.683A>G|p.Asn228Ser|802/3978|683/1878|228/625||;p3_1000G_AA=G|||;p3_1000G_AC=767;p3_1000G_AF=0.153155;p3_1000G_AFR_AF=0.3283;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=16420;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0586;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239237751;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=975,3195;ESP6500_AA_GTC=118,739,1228;ESP6500_CDS_SIZES=NM_015650.3:2076,NM_001139490.1:1878;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=65;ESP6500_EA_AC=298,7934;ESP6500_EA_GTC=1,296,3819;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015650.3:missense,NM_001139490.1:missense;ESP6500_GL=TRAF3IP1;ESP6500_GRCh38_POSITION=2:238329110;ESP6500_GS=46,46;ESP6500_GTC=119,1035,5047;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015650.3:c.683A>G,NM_001139490.1:c.683A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015650.3:p.(N228S),NM_001139490.1:p.(N228S);ESP6500_MAF=3.62,23.3813,10.2645;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=1273,11129	GT:AD:DP:GQ:PL	0/1:4,12:16:99:315,0,107
chr2	238329333	rs17854985	T	C	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.595;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=2.595;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.045;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17854985;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|5/17|c.906T>C|p.Pro302Pro|1025/4176|906/2076|302/691||,C|synonymous_variant|LOW|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|5/15|c.906T>C|p.Pro302Pro|1025/3978|906/1878|302/625||;p3_1000G_AA=C|||;p3_1000G_AC=767;p3_1000G_AF=0.153155;p3_1000G_AFR_AF=0.3283;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=20141;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0586;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239237974;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1092,3292;ESP6500_AA_GTC=147,798,1247;ESP6500_CDS_SIZES=NM_015650.3:2076,NM_001139490.1:1878;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=65;ESP6500_EA_AC=336,8212;ESP6500_EA_GTC=2,332,3940;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015650.3:coding-synonymous,NM_001139490.1:coding-synonymous;ESP6500_GL=TRAF3IP1;ESP6500_GRCh38_POSITION=2:238329333;ESP6500_GTC=149,1130,5187;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015650.3:c.906T>C,NM_001139490.1:c.906T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015650.3:p.(P302),NM_001139490.1:p.(P302);ESP6500_MAF=3.9307,24.9088,11.0424;ESP6500_TAC=1428,11504	GT:AD:DP:GQ:PL	0/1:18,28:46:99:654,0,359
chr2	238334078	rs5839695	G	GT	136.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.54;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5839695;dbSNPBuildID=126;ANN=GT|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|7/16|c.1063+57dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|7/14|c.1063+57dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3080;p3_1000G_AF=0.615016;p3_1000G_AFR_AF=0.6278;p3_1000G_AMR_AF=0.6599;p3_1000G_AN=5008;p3_1000G_DP=17717;p3_1000G_EAS_AF=0.5962;p3_1000G_EUR_AF=0.6024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239242719;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,7:7:21:174,21,0
chr2	238344583	rs58277463	A	T	774.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.424;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=2.061;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.535;SOR=0.732;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58277463;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|9/17|c.1246A>T|p.Thr416Ser|1365/4176|1246/2076|416/691||,T|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|7/14|c.1064-2872A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=767;p3_1000G_AF=0.153155;p3_1000G_AFR_AF=0.3283;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=18983;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0586;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239253224;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1124,3282;ESP6500_AA_AGE=404.0+/-332.9;ESP6500_AA_GTC=156,812,1235;ESP6500_CDS_SIZES=NM_015650.3:2076,NM_001139490.1:1878;ESP6500_CG=3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=94;ESP6500_EA_AC=340,8260;ESP6500_EA_AGE=116.8+/-176.5;ESP6500_EA_GTC=3,334,3963;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015650.3:missense,NM_001139490.1:intron;ESP6500_GL=TRAF3IP1;ESP6500_GRCh38_POSITION=2:238344583;ESP6500_GS=58,.;ESP6500_GTC=159,1146,5198;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015650.3:c.1246A>T,NM_001139490.1:c.1064-2872A>T;ESP6500_HGVS_PROTEIN_VAR=NM_015650.3:p.(T416S),.;ESP6500_MAF=3.9535,25.5107,11.2563;ESP6500_PH=benign:0.011,.;ESP6500_TAC=1464,11542	GT:AD:DP:GQ:PL	0/1:31,35:66:99:803,0,713
chr2	238349516	rs6717727	A	G	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.04;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.039;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.976;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6717727;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|12/16|c.1451+108A>G||||||,G|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|10/14|c.1253+108A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=796;p3_1000G_AF=0.158946;p3_1000G_AFR_AF=0.3495;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=18954;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239258157;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1196;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,7:18:99:225,0,309
chr2	238356164	rs398091185;rs67040560	C	CA	217.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.728;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.967;SOR=1.863;INS;HET;VARTYPE=INS;dbSNP138_ID=rs67040560;dbSNPBuildID=131,138;ANN=CA|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|15/16|c.1689+86dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|13/14|c.1491+86dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AAA|AA|AAA|deletion;p3_1000G_AC=804;p3_1000G_AF=0.160543;p3_1000G_AFR_AF=0.3548;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=19877;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.0586;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239264805;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1207;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,8:10:41:255,0,41
chr2	238398604	rs571820	A	G	311.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.12;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.845;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs571820;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_015650.3|protein_coding|16/16|c.1911-150A>G||||||,G|intron_variant|MODIFIER|TRAF3IP1|TRAF3IP1|transcript|NM_001139490.1|protein_coding|14/14|c.1713-150A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3323;p3_1000G_AF=0.663538;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.732;p3_1000G_AN=5008;p3_1000G_DP=16948;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.7555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239307245;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:340,0,280
chr2	239108040	rs7585225	T	C	455.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=0.836;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7585225;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|15/26|c.2097+10A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4200;p3_1000G_AF=0.838658;p3_1000G_AFR_AF=0.7769;p3_1000G_AMR_AF=0.8977;p3_1000G_AN=5008;p3_1000G_DP=15177;p3_1000G_EAS_AF=0.8224;p3_1000G_EUR_AF=0.8191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240029736;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9172;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3331,1071;ESP6500_AA_GTC=1275,781,145;ESP6500_CDS_SIZES=NM_006037.3:3255;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=26;ESP6500_EA_AC=6922,1672;ESP6500_EA_GTC=2801,1320,176;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006037.3:intron;ESP6500_GL=HDAC4;ESP6500_GRCh38_POSITION=2:239108040;ESP6500_GTC=4076,2101,321;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006037.3:c.2097+10A>G;ESP6500_MAF=19.4554,24.3299,21.1065;ESP6500_TAC=10253,2743	GT:AD:DP:GQ:PL	1/1:0,13:13:39:484,39,0
chr2	239134205	rs2278778	G	A	2433.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.81;SOR=1.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278778;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|11/26|c.1294+40C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2949;p3_1000G_AF=0.588858;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.6182;p3_1000G_AN=5008;p3_1000G_DP=16840;p3_1000G_EAS_AF=0.8562;p3_1000G_EUR_AF=0.6193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240055901;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8671;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=938,3466;ESP6500_AA_AGE=334.9+/-303.7;ESP6500_AA_GTC=101,736,1365;ESP6500_CDS_SIZES=NM_006037.3:3255;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=5221,3379;ESP6500_EA_AGE=607.9+/-395.3;ESP6500_EA_GTC=1593,2035,672;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006037.3:intron;ESP6500_GL=HDAC4;ESP6500_GRCh38_POSITION=2:239134205;ESP6500_GTC=1694,2771,2037;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006037.3:c.1294+40C>T;ESP6500_MAF=39.2907,21.2988,47.3624;ESP6500_TAC=6159,6845	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2462,236,0
chr2	239144721	rs2290087	A	G	979.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290087;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|7/26|c.734-7T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4446;p3_1000G_AF=0.88778;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=20136;p3_1000G_EAS_AF=0.8482;p3_1000G_EUR_AF=0.8608;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240066417;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4244,162;ESP6500_AA_AGE=106.9+/-145.3;ESP6500_AA_GTC=2044,156,3;ESP6500_CDS_SIZES=NM_006037.3:3255;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=7393,1207;ESP6500_EA_AGE=245.1+/-274.1;ESP6500_EA_GTC=3182,1029,89;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006037.3:intron;ESP6500_GL=HDAC4;ESP6500_GRCh38_POSITION=2:239144721;ESP6500_GTC=5226,1185,92;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006037.3:c.734-7T>C;ESP6500_MAF=14.0349,3.6768,10.5259;ESP6500_TAC=11637,1369	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1008,96,0
chr2	239144830	rs2290088	T	C	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.33;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-1.15;SOR=2.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290088;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|7/26|c.734-116A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3457;p3_1000G_AF=0.690296;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=20361;p3_1000G_EAS_AF=0.6637;p3_1000G_EUR_AF=0.7624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240066526;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:314,0,176
chr2	239156792	rs76103770	C	G	366.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.391;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.842;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76103770;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|6/26|c.612-19G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=431;p3_1000G_AF=0.0860623;p3_1000G_AFR_AF=0.0424;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=18390;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240078488;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=240,4166;ESP6500_AA_AGE=140.4+/-175.9;ESP6500_AA_GTC=9,222,1972;ESP6500_CDS_SIZES=NM_006037.3:3255;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=89;ESP6500_EA_AC=872,7728;ESP6500_EA_AGE=196.5+/-241.4;ESP6500_EA_GTC=58,756,3486;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006037.3:intron;ESP6500_GL=HDAC4;ESP6500_GRCh38_POSITION=2:239156792;ESP6500_GTC=67,978,5458;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_006037.3:c.612-19G>C;ESP6500_MAF=10.1395,5.4471,8.5499;ESP6500_TAC=1112,11894	GT:AD:DP:GQ:PL	0/1:17,14:31:99:395,0,526
chr2	239161832	rs3791515	G	A	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.704;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.461;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3791515;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|6/26|c.611+1971C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2898;p3_1000G_AF=0.578674;p3_1000G_AFR_AF=0.5053;p3_1000G_AMR_AF=0.4049;p3_1000G_AN=5008;p3_1000G_DP=15201;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.7107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240083528;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,16:27:99:354,0,245
chr2	239162357	rs3791516	T	A	243.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.851;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.852;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3791516;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|6/26|c.611+1446A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=439;p3_1000G_AF=0.0876597;p3_1000G_AFR_AF=0.0431;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=15939;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.1103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240084053;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:272,0,196
chr2	239163707	rs11124182	C	A	234.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.35;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11124182;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|6/26|c.611+96G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4530;p3_1000G_AF=0.904553;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=18363;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240085403;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9489;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:263,24,0
chr2	239189781	rs531993	A	T	1199.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs531993;dbSNPBuildID=83;ANN=T|downstream_gene_variant|MODIFIER|MGC16025|MGC16025|transcript|NR_026664.1|pseudogene||n.*3550T>A|||||3550|,T|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|4/26|c.339+52T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2812;p3_1000G_AF=0.561502;p3_1000G_AFR_AF=0.5363;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=13668;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.6421;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240111477;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.729;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=929,809;ESP6500_AA_GTC=256,417,196;ESP6500_CDS_SIZES=NM_006037.3:3255;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=10;ESP6500_EA_AC=2465,1509;ESP6500_EA_GTC=775,915,297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006037.3:intron;ESP6500_GL=HDAC4;ESP6500_GRCh38_POSITION=2:239189781;ESP6500_GTC=1031,1332,493;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_006037.3:c.339+52T>A;ESP6500_MAF=37.9718,46.5478,40.5812;ESP6500_TAC=3394,2318	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1228,111,0
chr2	239189811	rs2290091	G	A	827.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.851;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.046;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.782;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290091;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|MGC16025|MGC16025|transcript|NR_026664.1|pseudogene||n.*3520C>T|||||3520|,A|intron_variant|MODIFIER|HDAC4|HDAC4|transcript|NM_006037.3|protein_coding|4/26|c.339+22C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=320;p3_1000G_AF=0.0638978;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=13219;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.0139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240111507;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0378;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=450,3940;ESP6500_AA_GTC=21,408,1766;ESP6500_CDS_SIZES=NM_006037.3:3255;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=14;ESP6500_EA_AC=105,8477;ESP6500_EA_GTC=2,101,4188;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006037.3:intron;ESP6500_GL=HDAC4;ESP6500_GRCh38_POSITION=2:239189811;ESP6500_GTC=23,509,5954;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006037.3:c.339+22C>T;ESP6500_MAF=1.2235,10.2506,4.2784;ESP6500_TAC=555,12417	GT:AD:DP:GQ:PL	0/1:25,33:58:99:856,0,610
chr2	239961190	rs138479490;214702	TG	T	827.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.99;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=7.735;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.638;SOR=0.336;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs138479490;dbSNPBuildID=134;ANN=T|splice_region_variant&intron_variant|LOW|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.891-5delC||||||,T|splice_region_variant&intron_variant|LOW|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.1000-5delC||||||,T|splice_region_variant&intron_variant|LOW|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4143-5delC||||||,T|splice_region_variant&intron_variant|LOW|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4034-5delC||||||,T|splice_region_variant&intron_variant|LOW|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3974-5delC||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+44019delC||||||;p3_1000G_AA=GGGGG|GGGGG|GGGG|deletion;p3_1000G_AC=1239;p3_1000G_AF=0.247404;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.2767;p3_1000G_AN=5008;p3_1000G_DP=20026;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.3539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240900607;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=INDEL;ESP6500_AA_AC=572,3694;ESP6500_AA_GTC=38,496,1599;ESP6500_CDS_SIZES=NM_004544.3:1068;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=95;ESP6500_EA_AC=2740,5514;ESP6500_EA_GTC=456,1828,1843;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004544.3:intron;ESP6500_GL=NDUFA10;ESP6500_GRCh38_POSITION=2:239961190;ESP6500_GTC=494,2324,3442;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_004544.3:c.1000-5del1;ESP6500_MAF=33.196,13.4083,26.4537;ESP6500_TAC=3312,9208;CLINVAR_AF_ESP=0.2645;CLINVAR_AF_EXAC=0.30516;CLINVAR_AF_TGP=0.2474;CLINVAR_ALLELEID=210797;CLINVAR_CLNDISDB=MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLINVAR_CLNDN=Leigh_syndrome|Mitochondrial_complex_I_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.239961191delG;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498284;CLINVAR_GENEINFO=NDUFA10:4705;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=138479490	GT:AD:DP:GQ:PL	0/1:44,35:79:99:865,0,1157
chr2	239969887	rs34036698;rs796656187	CAG	C	97.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.42;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.52;ReadPosRankSum=0.523;SOR=0.602;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34036698;dbSNPBuildID=126,146;ANN=C|downstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding||c.*3644_*3645delCT|||||2744|,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+35321_4033+35322delCT||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.891-8703_891-8702delCT||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.1000-8703_1000-8702delCT||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4143-8703_4143-8702delCT||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4034-8703_4034-8702delCT||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3974-8703_3974-8702delCT||||||;p3_1000G_AC=1304;p3_1000G_AF=0.260383;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=19349;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240909304;p3_1000G_GRCH37_REF=CAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:11,4:15:99:135,0,456
chr2	239973566	rs73105362	G	T	205.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.706;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.196;SOR=0.519;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73105362;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|10/10|c.1095C>A|p.Leu365Leu|1196/2130|1095/1128|365/375||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+31644C>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.891-12380C>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.1000-12380C>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4143-12380C>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4034-12380C>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3974-12380C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=831;p3_1000G_AF=0.165935;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=17329;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240912983;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,15:39:99:234,0,550
chr2	239982046	rs4149551	C	T	718.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.606;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.439;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.77;SOR=1.123;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4149551;dbSNPBuildID=110;ANN=T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|9/9|c.999+8028G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+23164G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.891-20860G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.999+8028G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4142+8028G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4034-20860G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3973+8028G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1436;p3_1000G_AF=0.286741;p3_1000G_AFR_AF=0.1649;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=16933;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.3539;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240921463;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,27:51:99:747,0,752
chr2	239983405	rs958960	C	A	94.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs958960;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|9/9|c.999+6669G>T||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+21805G>T||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.890+21805G>T||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.999+6669G>T||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4142+6669G>T||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4033+21805G>T||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3973+6669G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3617;p3_1000G_AF=0.722244;p3_1000G_AFR_AF=0.7837;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=18763;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.7018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240922822;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:122,12,0
chr2	239983451	rs368255251	AT	A	158.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.732;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=-0.282;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs368255251;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|9/9|c.999+6622delA||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+21758delA||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.890+21758delA||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.999+6622delA||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4142+6622delA||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4033+21758delA||||||,A|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3973+6622delA||||||;p3_1000G_AA=TTTTTT|TTTTTT|TTTTT|deletion;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20649;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240922868;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,7:9:37:196,0,37
chr2	239983633	rs1530144	C	T	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.016;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.489;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1530144;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|9/9|c.999+6441G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+21577G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.890+21577G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.999+6441G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4142+6441G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4033+21577G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3973+6441G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2075;p3_1000G_AF=0.414337;p3_1000G_AFR_AF=0.4909;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=15165;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.4135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240923050;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=836,916;ESP6500_AA_GTC=206,424,246;ESP6500_CDS_SIZES=NM_004544.3:1068;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=13;ESP6500_EA_AC=1626,2356;ESP6500_EA_GTC=336,954,701;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004544.3:intron;ESP6500_GL=NDUFA10;ESP6500_GRCh38_POSITION=2:239983633;ESP6500_GTC=542,1378,947;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004544.3:c.999+6441G>A;ESP6500_MAF=40.8338,47.7169,42.9369;ESP6500_TAC=2462,3272	GT:AD:DP:GQ:PL	0/1:18,19:37:99:494,0,454
chr2	239983729	rs6716293	T	C	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.758;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=0.34;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6716293;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|9/9|c.999+6345A>G||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+21481A>G||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.890+21481A>G||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.999+6345A>G||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4142+6345A>G||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4033+21481A>G||||||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3973+6345A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1802;p3_1000G_AF=0.359824;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=17517;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240923146;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1,1729;ESP6500_AA_GTC=0,1,864;ESP6500_CDS_SIZES=NM_004544.3:1068;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=8;ESP6500_EA_AC=5,3939;ESP6500_EA_GTC=0,5,1967;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004544.3:intron;ESP6500_GL=NDUFA10;ESP6500_GRCh38_POSITION=2:239983729;ESP6500_GTC=0,6,2831;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004544.3:c.999+6345A>G;ESP6500_MAF=0.1268,0.0578,0.1057;ESP6500_TAC=6,5668	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,13:22:99:0|1:239983729_T_C:519,0,554
chr2	239983730	rs2887406	C	T	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.181;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=1.792;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=0.34;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2887406;dbSNPBuildID=101;ANN=T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|9/9|c.999+6344G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|7/10|n.4033+21480G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|8/8|c.890+21480G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|9/9|c.999+6344G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|8/8|n.4142+6344G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|7/7|n.4033+21480G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|7/7|n.3973+6344G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1805;p3_1000G_AF=0.360423;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.4438;p3_1000G_AN=5008;p3_1000G_DP=17395;p3_1000G_EAS_AF=0.4395;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240923147;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,13:22:99:0|1:239983729_T_C:519,0,554
chr2	240007349	rs13848;129686	T	C	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.013;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.253;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.34;ReadPosRankSum=-0.406;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13848;dbSNPBuildID=129;ANN=C|synonymous_variant|LOW|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|7/10|c.771A>G|p.Gln257Gln|872/2130|771/1128|257/375||,C|synonymous_variant|LOW|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|7/9|c.771A>G|p.Gln257Gln|872/4806|771/954|257/317||,C|synonymous_variant|LOW|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|7/10|c.771A>G|p.Gln257Gln|872/4915|771/1068|257/355||,C|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|6/11|n.3914A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|6/9|n.3914A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|6/8|n.3914A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|5/8|n.3745A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1784;p3_1000G_AF=0.35623;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=21733;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.4115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240946766;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1284,3120;ESP6500_AA_AGE=693.8+/-405.7;ESP6500_AA_GTC=184,916,1102;ESP6500_CDS_SIZES=NM_004544.3:1068;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=86;ESP6500_EA_AC=3496,5100;ESP6500_EA_AGE=631.6+/-398.5;ESP6500_EA_GTC=716,2064,1518;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004544.3:coding-synonymous;ESP6500_GL=NDUFA10;ESP6500_GRCh38_POSITION=2:240007349;ESP6500_GTC=900,2980,2620;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004544.3:c.771A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004544.3:p.(Q257);ESP6500_MAF=40.6701,29.1553,36.7692;ESP6500_TAC=4780,8220;CLINVAR_AF_ESP=0.3677;CLINVAR_AF_EXAC=0.40644;CLINVAR_AF_TGP=0.3562;CLINVAR_ALLELEID=135132;CLINVAR_CLNDISDB=MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLINVAR_CLNDN=Leigh_syndrome|Mitochondrial_complex_I_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.240007349T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28665;CLINVAR_GENEINFO=NDUFA10:4705;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=13848	GT:AD:DP:GQ:PL	0/1:31,15:46:99:320,0,879
chr2	240014693	rs2289407	A	G	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.6;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-0.518;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2289407;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|5/9|c.669+46T>C||||||,G|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|5/8|c.669+46T>C||||||,G|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|5/9|c.669+46T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|5/11|n.816T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|5/9|n.816T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|5/8|n.816T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|4/8|n.647T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1391;p3_1000G_AF=0.277756;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=21118;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.3539;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240954110;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=787,3619;ESP6500_AA_AGE=316.6+/-294.7;ESP6500_AA_GTC=65,657,1481;ESP6500_CDS_SIZES=NM_004544.3:1068;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=2846,5754;ESP6500_EA_AGE=446.6+/-361.3;ESP6500_EA_GTC=479,1888,1933;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004544.3:intron;ESP6500_GL=NDUFA10;ESP6500_GRCh38_POSITION=2:240014693;ESP6500_GTC=544,2545,3414;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004544.3:c.669+46T>C;ESP6500_MAF=33.093,17.862,27.9333;ESP6500_TAC=3633,9373	GT:AD:DP:GQ:PL	0/1:10,11:21:99:378,0,302
chr2	240018712	rs4149540	C	T	672.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4149540;dbSNPBuildID=110;ANN=T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|3/9|c.461-73G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|3/10|n.562-73G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|3/8|c.461-73G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|3/9|c.461-73G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|3/8|n.562-73G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|3/7|n.562-73G>A||||||,T|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|2/7|n.393-73G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3421;p3_1000G_AF=0.683107;p3_1000G_AFR_AF=0.7519;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=19395;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240958129;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5399;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:701,54,0
chr2	240022311	rs2083411;129685	T	C	2603.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=82;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2083411;dbSNPBuildID=96;ANN=C|synonymous_variant|LOW|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding|2/10|c.105A>G|p.Lys35Lys|206/2130|105/1128|35/375||,C|synonymous_variant|LOW|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding|2/9|c.105A>G|p.Lys35Lys|206/4806|105/954|35/317||,C|synonymous_variant|LOW|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding|2/10|c.105A>G|p.Lys35Lys|206/4915|105/1068|35/355||,C|intron_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene|1/7|n.177-899A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene|2/11|n.206A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene|2/9|n.206A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene|2/8|n.206A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3518;p3_1000G_AF=0.702476;p3_1000G_AFR_AF=0.8011;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=14147;p3_1000G_EAS_AF=0.7867;p3_1000G_EUR_AF=0.6779;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240961728;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5583;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3465,941;ESP6500_AA_AGE=358.1+/-314.2;ESP6500_AA_GTC=1376,713,114;ESP6500_CDS_SIZES=NM_004544.3:1068;ESP6500_CG=3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=116;ESP6500_EA_AC=5568,3032;ESP6500_EA_AGE=468.3+/-367.3;ESP6500_EA_GTC=1831,1906,563;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004544.3:coding-synonymous;ESP6500_GL=NDUFA10;ESP6500_GRCh38_POSITION=2:240022311;ESP6500_GTC=3207,2619,677;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004544.3:c.105A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004544.3:p.(K35);ESP6500_MAF=35.2558,21.3572,30.5474;ESP6500_TAC=9033,3973;CLINVAR_ALLELEID=135131;CLINVAR_CLNDISDB=MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLINVAR_CLNDN=Leigh_syndrome|Mitochondrial_complex_I_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.240022311T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28454;CLINVAR_GENEINFO=NDUFA10:4705;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2083411	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2632,246,0
chr2	240029895	rs10187574	A	G	602.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.102;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=53.59;MQRankSum=0.373;QD=10.96;ReadPosRankSum=1.13;SOR=0.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10187574;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|OR6B2|OR6B2|transcript|NM_001005853.1|protein_coding|1/1|c.535T>C|p.Cys179Arg|535/939|535/939|179/312||,G|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding||c.-4594T>C|||||4493|,G|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene||n.-4493T>C|||||4493|,G|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding||c.-4594T>C|||||4493|,G|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding||c.-4594T>C|||||4493|,G|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene||n.-4493T>C|||||4493|,G|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene||n.-4493T>C|||||4493|,G|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene||n.-4493T>C|||||4493|;p3_1000G_AA=A|||;p3_1000G_AC=1381;p3_1000G_AF=0.275759;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=23316;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.3509;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240969312;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,25:55:99:631,0,923
chr2	240030066	rs10176036	G	A	980.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.312;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=16.82;MLEAC=1;MLEAF=0.5;MQ=35.69;MQRankSum=-1.528;QD=15.57;ReadPosRankSum=0.859;SOR=2.81;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145620667;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|OR6B2|OR6B2|transcript|NM_001005853.1|protein_coding|1/1|c.364C>T|p.Arg122Cys|364/939|364/939|122/312||,A|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322019.1|protein_coding||c.-4765C>T|||||4664|,A|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136158.1|pseudogene||n.-4664C>T|||||4664|,A|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_001322020.1|protein_coding||c.-4765C>T|||||4664|,A|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NM_004544.3|protein_coding||c.-4765C>T|||||4664|,A|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136155.1|pseudogene||n.-4664C>T|||||4664|,A|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136156.1|pseudogene||n.-4664C>T|||||4664|,A|upstream_gene_variant|MODIFIER|NDUFA10|NDUFA10|transcript|NR_136157.1|pseudogene||n.-4664C>T|||||4664|;p3_1000G_AA=G|||;p3_1000G_AC=1252;p3_1000G_AF=0.25;p3_1000G_AFR_AF=0.0734;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs145620667;p3_1000G_DP=21523;p3_1000G_EAS_AF=0.4504;p3_1000G_EUR_AF=0.3479;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240969483;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1605;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,35:63:99:1009,0,827
chr2	240041762	rs6731916	T	C	740.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.1;SOR=4.514;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6731916;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|PRR21|PRR21|transcript|NM_001080835.1|protein_coding||c.*51A>G|||||51|,C|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*3315A>G|||||3315|,C|intergenic_region|MODIFIER|OR6B2-PRR21|OR6B2-PRR21|intergenic_region|OR6B2-PRR21|||n.240041762T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=3630;p3_1000G_AF=0.72484;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=23483;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.6312;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240981179;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3841,505;ESP6500_AA_GTC=1695,451,27;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=15;ESP6500_EA_AC=5549,3041;ESP6500_EA_GTC=1803,1943,549;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-3;ESP6500_GRCh38_POSITION=2:240041762;ESP6500_GTC=3498,2394,576;ESP6500_GTS=CC,CT,TT;ESP6500_MAF=35.4016,11.6199,27.4119;ESP6500_TAC=9390,3546	GT:AD:DP:GQ:PL	1/1:0,19:19:57:769,57,0
chr2	240041845	rs6728493	A	C	1469.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.61;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=3.078;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.33;ReadPosRankSum=1.1;SOR=1.453;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6728493;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.1138T>G|p.Ser380Ala|1138/1170|1138/1170|380/389||,C|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*3232T>G|||||3232|;p3_1000G_AA=a|||;p3_1000G_AC=2079;p3_1000G_AF=0.415136;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=22976;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240981262;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1685,2721;ESP6500_AA_AGE=511.1+/-367.7;ESP6500_AA_GTC=316,1053,834;ESP6500_CDS_SIZES=NM_001080835.1:1170;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=73;ESP6500_EA_AC=2727,5873;ESP6500_EA_AGE=434.6+/-357.8;ESP6500_EA_GTC=431,1865,2004;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080835.1:missense;ESP6500_GL=PRR21;ESP6500_GRCh38_POSITION=2:240041845;ESP6500_GS=99;ESP6500_GTC=747,2918,2838;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080835.1:c.1138T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001080835.1:p.(S380A);ESP6500_MAF=31.7093,38.2433,33.9228;ESP6500_PH=possibly-damaging:0.673;ESP6500_TAC=4412,8594	GT:AD:DP:GQ:PL	0/1:18,45:63:99:1498,0,476
chr2	240041958	rs6732185	T	A	3591.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.58;ClippingRankSum=0;DP=131;ExcessHet=3.0103;FS=3.658;MLEAC=2;MLEAF=1;MQ=59.94;MQRankSum=0;QD=27.63;ReadPosRankSum=2.21;SOR=0.715;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6732185;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.1025A>T|p.Lys342Met|1025/1170|1025/1170|342/389||,A|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*3119A>T|||||3119|;p3_1000G_AA=N|||;p3_1000G_AC=3630;p3_1000G_AF=0.72484;p3_1000G_AFR_AF=0.9251;p3_1000G_AMR_AF=0.5879;p3_1000G_AN=5008;p3_1000G_DP=21941;p3_1000G_EAS_AF=0.7817;p3_1000G_EUR_AF=0.6312;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240981375;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.589;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3878,528;ESP6500_AA_GTC=1700,478,25;ESP6500_CDS_SIZES=NM_001080835.1:1170;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=149;ESP6500_EA_AC=5530,3070;ESP6500_EA_GTC=1781,1968,551;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080835.1:missense;ESP6500_GL=PRR21;ESP6500_GRCh38_POSITION=2:240041958;ESP6500_GS=95;ESP6500_GTC=3481,2446,576;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080835.1:c.1025A>T;ESP6500_HGVS_PROTEIN_VAR=NM_001080835.1:p.(K342M);ESP6500_MAF=35.6977,11.9837,27.6642;ESP6500_PH=benign:0.274;ESP6500_TAC=9408,3598	GT:AD:DP:GQ:PL	1/1:1,129:130:99:3620,374,0
chr2	240042070	rs60617721	A	G	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.811;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=48.2;MQRankSum=0.083;QD=11.34;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60617721;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.913T>C|p.Cys305Arg|913/1170|913/1170|305/389||,G|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*3007T>C|||||3007|;p3_1000G_AA=a|||;p3_1000G_AC=2078;p3_1000G_AF=0.414936;p3_1000G_AFR_AF=0.4455;p3_1000G_AMR_AF=0.3775;p3_1000G_AN=5008;p3_1000G_DP=16158;p3_1000G_EAS_AF=0.5744;p3_1000G_EUR_AF=0.332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240981487;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,7:20:99:0|1:240042070_A_G:255,0,1201
chr2	240042098	rs59139800	A	G	574.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.39;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=11.803;MLEAC=1;MLEAF=0.5;MQ=53;MQRankSum=-0.549;QD=14.74;ReadPosRankSum=1.14;SOR=3.395;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59139800;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.885T>C|p.His295His|885/1170|885/1170|295/389||,G|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2979T>C|||||2979|;p3_1000G_AA=a|||;p3_1000G_AC=2084;p3_1000G_AF=0.416134;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=14987;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240981515;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,16:39:99:0|1:240042070_A_G:603,0,1476
chr2	240042126	rs71428408	A	G	970.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.85;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.749;MLEAC=1;MLEAF=0.5;MQ=53.53;MQRankSum=1.81;QD=23.11;ReadPosRankSum=-0.04;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs71428408;dbSNPBuildID=130;ANN=G|missense_variant|MODERATE|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.857T>C|p.Met286Thr|857/1170|857/1170|286/389||,G|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2951T>C|||||2951|;p3_1000G_AA=a|||;p3_1000G_AC=1862;p3_1000G_AF=0.371805;p3_1000G_AFR_AF=0.3933;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=10992;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.3062;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240981543;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2658;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,28:42:99:0|1:240042070_A_G:999,0,1082
chr2	240042131	rs6711783	G	C	820.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.608;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=51.04;MQRankSum=3.49;QD=26.48;ReadPosRankSum=-2.713;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6711783;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.852C>G|p.Ser284Ser|852/1170|852/1170|284/389||,C|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2946C>G|||||2946|	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,24:31:99:0|1:240042070_A_G:849,0,1024
chr2	240042642	rs755088823	CCGTGGGTG	C	531.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.82;QD=33.23;SOR=0.941;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|frameshift_variant|HIGH|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.333_340delCACCCACG|p.Phe111fs|340/1170|333/1170|111/389||,C|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2427_*2434delCACCCACG|||||2434|;LOF=(PRR21|PRR21|1|1.00)	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:47:1|1:240042642_CCGTGGGTG_C:569,47,0
chr2	240042651	rs767543587	AAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCC	A	522.73	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.83;MQRankSum=0;QD=30.75;SOR=0.33;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|disruptive_inframe_deletion|MODERATE|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.284_331delGGCCCTTCGTCCATGCCTCTTCACCCACGGCCCTTCGTCCATGCCTCT|p.Arg95_Phe111delinsLeu|331/1170|284/1170|95/389||,A|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2378_*2425delGGCCCTTCGTCCATGCCTCTTCACCCACGGCCCTTCGTCCATGCCTCT|||||2425|	GT:AD:DP:GQ:PGT:PID:PL	1/1:1,16:17:41:1|1:240042642_CCGTGGGTG_C:560,41,0
chr2	240042811	rs10439373	C	T	357.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.81;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10439373;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|PRR21|PRR21|transcript|NM_001080835.1|protein_coding|1/1|c.172G>A|p.Gly58Ser|172/1170|172/1170|58/389||,T|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2266G>A|||||2266|;p3_1000G_AA=N|||;p3_1000G_AC=2614;p3_1000G_AF=0.521965;p3_1000G_AFR_AF=0.6157;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=17559;p3_1000G_EAS_AF=0.506;p3_1000G_EUR_AF=0.502;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240982228;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2651,1755;ESP6500_AA_GTC=769,1113,321;ESP6500_CDS_SIZES=NM_001080835.1:1170;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=122;ESP6500_EA_AC=3699,4901;ESP6500_EA_GTC=748,2203,1349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080835.1:missense;ESP6500_GL=PRR21;ESP6500_GRCh38_POSITION=2:240042811;ESP6500_GS=56;ESP6500_GTC=1517,3316,1670;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080835.1:c.172G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080835.1:p.(G58S);ESP6500_MAF=43.0116,39.832,48.8236;ESP6500_PH=benign:0.185;ESP6500_TAC=6350,6656	GT:AD:DP:GQ:PL	1/1:0,12:12:35:386,35,0
chr2	240043026	rs34596708	C	T	864.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.509;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.236;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.09;ReadPosRankSum=-1.213;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34596708;dbSNPBuildID=126;ANN=T|upstream_gene_variant|MODIFIER|PRR21|PRR21|transcript|NM_001080835.1|protein_coding||c.-44G>A|||||44|,T|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2051G>A|||||2051|,T|intergenic_region|MODIFIER|PRR21-OR6B3|PRR21-OR6B3|intergenic_region|PRR21-OR6B3|||n.240043026C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1523;p3_1000G_AF=0.304113;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=19444;p3_1000G_EAS_AF=0.5704;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240982443;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=782,3342;ESP6500_AA_GTC=75,632,1355;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=38;ESP6500_EA_AC=2021,6157;ESP6500_EA_GTC=263,1495,2331;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=2:240043026;ESP6500_GTC=338,2127,3686;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=24.7126,18.9622,22.7849;ESP6500_TAC=2803,9499	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,23:41:99:0|1:240043026_C_T:893,0,976
chr2	240043032	rs35318485	C	T	823.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.448;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.958;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.68;ReadPosRankSum=-1.471;SOR=0.299;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35318485;dbSNPBuildID=126;ANN=T|upstream_gene_variant|MODIFIER|PRR21|PRR21|transcript|NM_001080835.1|protein_coding||c.-50G>A|||||50|,T|downstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.*2045G>A|||||2045|,T|intergenic_region|MODIFIER|PRR21-OR6B3|PRR21-OR6B3|intergenic_region|PRR21-OR6B3|||n.240043032C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1524;p3_1000G_AF=0.304313;p3_1000G_AFR_AF=0.2262;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=19146;p3_1000G_EAS_AF=0.5704;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240982449;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=770,3316;ESP6500_AA_GTC=71,628,1344;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=35;ESP6500_EA_AC=1978,6072;ESP6500_EA_GTC=255,1468,2302;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=2:240043032;ESP6500_GTC=326,2096,3646;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=24.5714,18.8448,22.6434;ESP6500_TAC=2748,9388	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,22:38:99:0|1:240043026_C_T:852,0,960
chr2	240045372	rs12465491	C	T	1015.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.722;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=2.672;MLEAC=1;MLEAF=0.5;MQ=59.86;MQRankSum=-0.223;QD=10.47;ReadPosRankSum=0.757;SOR=0.733;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12465491;dbSNPBuildID=120;ANN=T|missense_variant|MODERATE|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding|1/1|c.701G>A|p.Cys234Tyr|701/996|701/996|234/331||,T|upstream_gene_variant|MODIFIER|PRR21|PRR21|transcript|NM_001080835.1|protein_coding||c.-2390G>A|||||2390|;p3_1000G_AA=c|||;p3_1000G_AC=1495;p3_1000G_AF=0.298522;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=19653;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.3042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240984789;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1871;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=793,3397;ESP6500_AA_GTC=72,649,1374;ESP6500_CDS_SIZES=NM_173351.1:996;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=52;ESP6500_EA_AC=2261,6199;ESP6500_EA_GTC=309,1643,2278;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173351.1:missense;ESP6500_GL=OR6B3;ESP6500_GRCh38_POSITION=2:240045372;ESP6500_GS=194;ESP6500_GTC=381,2292,3652;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_173351.1:c.701G>A;ESP6500_HGVS_PROTEIN_VAR=NM_173351.1:p.(C234Y);ESP6500_MAF=26.7258,18.926,24.1423;ESP6500_PH=benign:0.047;ESP6500_TAC=3054,9596	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1044,0,1627
chr2	240045416	rs13389099	C	G	1689.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.349;ClippingRankSum=0;DP=101;ExcessHet=3.0103;FS=1.608;MLEAC=1;MLEAF=0.5;MQ=59.86;MQRankSum=0.242;QD=16.73;ReadPosRankSum=0.966;SOR=0.798;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13389099;dbSNPBuildID=121;ANN=G|synonymous_variant|LOW|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding|1/1|c.657G>C|p.Ala219Ala|657/996|657/996|219/331||,G|upstream_gene_variant|MODIFIER|PRR21|PRR21|transcript|NM_001080835.1|protein_coding||c.-2434G>C|||||2434|;p3_1000G_AA=t|||;p3_1000G_AC=1218;p3_1000G_AF=0.243211;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=20769;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.2614;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240984833;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2474;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1287,3011;ESP6500_AA_GTC=197,893,1059;ESP6500_CDS_SIZES=NM_173351.1:996;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=65;ESP6500_EA_AC=2297,6203;ESP6500_EA_GTC=310,1677,2263;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173351.1:coding-synonymous;ESP6500_GL=OR6B3;ESP6500_GRCh38_POSITION=2:240045416;ESP6500_GTC=507,2570,3322;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_173351.1:c.657G>C;ESP6500_HGVS_PROTEIN_VAR=NM_173351.1:p.(A219);ESP6500_MAF=27.0235,29.9442,28.0044;ESP6500_TAC=3584,9214	GT:AD:DP:GQ:PL	0/1:43,58:101:99:1718,0,1239
chr2	240045682	rs34599221	G	A	1207.77	MG_SNP_Filter	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=34.83;QD=33.55;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs150098707;dbSNPBuildID=126;ANN=A|missense_variant|MODERATE|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding|1/1|c.391C>T|p.Arg131Cys|391/996|391/996|131/331||,A|upstream_gene_variant|MODIFIER|PRR21|PRR21|transcript|NM_001080835.1|protein_coding||c.-2700C>T|||||2700|;p3_1000G_AA=g|||;p3_1000G_AC=3304;p3_1000G_AF=0.659744;p3_1000G_AFR_AF=0.761;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs150098707;p3_1000G_DP=19617;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.5905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240985099;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1236,108,0
chr2	240045930	rs13030992	G	A	1386.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=41.94;QD=32.25;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13030992;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding|1/1|c.143C>T|p.Thr48Ile|143/996|143/996|48/331||,A|upstream_gene_variant|MODIFIER|PRR21|PRR21|transcript|NM_001080835.1|protein_coding||c.-2948C>T|||||2948|	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1415,129,0
chr2	240046094	rs10933560	A	G	1197.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10933560;dbSNPBuildID=120;ANN=G|upstream_gene_variant|MODIFIER|PRR21|PRR21|transcript|NM_001080835.1|protein_coding||c.-3112T>C|||||3112|,G|upstream_gene_variant|MODIFIER|OR6B3|OR6B3|transcript|NM_173351.1|protein_coding||c.-22T>C|||||22|,G|intergenic_region|MODIFIER|OR6B3-COPS9|OR6B3-COPS9|intergenic_region|OR6B3-COPS9|||n.240046094A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=3009;p3_1000G_AF=0.600839;p3_1000G_AFR_AF=0.7209;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=20783;p3_1000G_EAS_AF=0.7708;p3_1000G_EUR_AF=0.5666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=240985511;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4387;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2620,1206;ESP6500_AA_GTC=920,780,213;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=13;ESP6500_EA_AC=4484,3742;ESP6500_EA_GTC=1316,1852,945;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=2:240046094;ESP6500_GTC=2236,2632,1158;ESP6500_GTS=GG,GA,AA;ESP6500_MAF=45.4899,31.5212,41.0554;ESP6500_TAC=7104,4948	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1226,108,0
chr2	240126863	rs4292120	C	T	1138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.521;ClippingRankSum=0;DP=102;ExcessHet=3.0103;FS=3.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.72;SOR=1.081;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4292120;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|COPS9|COPS9|transcript|NM_138336.1|protein_coding|5/5|c.459G>A|p.Glu153Glu|459/759|459/759|153/252||,T|downstream_gene_variant|MODIFIER|COPS9|COPS9|transcript|NM_001163424.1|protein_coding||c.*4188G>A|||||3962|;p3_1000G_AA=T|||;p3_1000G_AC=3605;p3_1000G_AF=0.719848;p3_1000G_AFR_AF=0.9705;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=18094;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.5696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241066280;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5624;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3975,431;ESP6500_AA_AGE=209.2+/-230.0;ESP6500_AA_GTC=1788,399,16;ESP6500_CDS_SIZES=NM_138336.1:759;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=171;ESP6500_EA_AC=4761,3839;ESP6500_EA_AGE=540.2+/-383.8;ESP6500_EA_GTC=1344,2073,883;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138336.1:coding-synonymous;ESP6500_GL=MYEOV2;ESP6500_GRCh38_POSITION=2:240126863;ESP6500_GTC=3132,2472,899;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138336.1:c.459G>A;ESP6500_HGVS_PROTEIN_VAR=NM_138336.1:p.(E153);ESP6500_MAF=44.6395,9.7821,32.831;ESP6500_TAC=8736,4270	GT:AD:DP:GQ:PL	0/1:58,44:102:99:1167,0,1729
chr2	240134033	rs3749078	C	T	221.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.488;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.451;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749078;dbSNPBuildID=107;ANN=T|downstream_gene_variant|MODIFIER|OTOS|OTOS|transcript|NM_148961.3|protein_coding||c.*5137G>A|||||4996|,T|intron_variant|MODIFIER|COPS9|COPS9|transcript|NM_138336.1|protein_coding|1/4|c.157-28G>A||||||,T|intron_variant|MODIFIER|COPS9|COPS9|transcript|NM_001163424.1|protein_coding|1/2|c.64-28G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1559;p3_1000G_AF=0.311302;p3_1000G_AFR_AF=0.413;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=18014;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.3151;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241073450;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3139;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1709,2697;ESP6500_AA_AGE=515.4+/-368.9;ESP6500_AA_GTC=338,1033,832;ESP6500_CDS_SIZES=NM_138336.1:759,NM_001163424.1:174;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=71;ESP6500_EA_AC=2703,5897;ESP6500_EA_AGE=432.2+/-357.0;ESP6500_EA_GTC=440,1823,2037;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138336.1:intron,NM_001163424.1:intron;ESP6500_GL=MYEOV2;ESP6500_GRCh38_POSITION=2:240134033;ESP6500_GTC=778,2856,2869;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138336.1:c.157-28G>A,NM_001163424.1:c.64-28G>A;ESP6500_MAF=31.4302,38.788,33.9228;ESP6500_TAC=4412,8594	GT:AD:DP:GQ:PL	0/1:8,11:19:99:250,0,217
chr2	240136392	rs13406410	C	T	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.561;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=8.195;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.305;SOR=3.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13406410;dbSNPBuildID=121;ANN=T|upstream_gene_variant|MODIFIER|COPS9|COPS9|transcript|NM_138336.1|protein_coding||c.-45G>A|||||45|,T|upstream_gene_variant|MODIFIER|COPS9|COPS9|transcript|NM_001163424.1|protein_coding||c.-108G>A|||||62|,T|downstream_gene_variant|MODIFIER|OTOS|OTOS|transcript|NM_148961.3|protein_coding||c.*2778G>A|||||2637|,T|intergenic_region|MODIFIER|COPS9-OTOS|COPS9-OTOS|intergenic_region|COPS9-OTOS|||n.240136392C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3202;p3_1000G_AF=0.639377;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=10397;p3_1000G_EAS_AF=0.629;p3_1000G_EUR_AF=0.5278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241075809;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.498;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2152,372;ESP6500_AA_GTC=943,266,53;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=2;ESP6500_EA_AC=3385,2007;ESP6500_EA_GTC=1127,1131,438;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=2:240136392;ESP6500_GTC=2070,1397,491;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=37.2218,14.7385,30.0531;ESP6500_TAC=5537,2379	GT:AD:DP:GQ:PL	0/1:5,7:12:99:207,0,128
chr2	240462324	rs1042829	C	T	614.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.249;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.029;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.05;SOR=0.912;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1042829;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|GPC1|GPC1|transcript|NM_002081.2|protein_coding|3/9|c.459C>T|p.Arg153Arg|680/3686|459/1677|153/558||;p3_1000G_AA=c|||;p3_1000G_AC=760;p3_1000G_AF=0.151757;p3_1000G_AFR_AF=0.2088;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=14261;p3_1000G_EAS_AF=0.0238;p3_1000G_EUR_AF=0.2018;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241401741;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1626;p3_1000G_VT=SNP;ESP6500_AA_AC=786,3584;ESP6500_AA_GTC=67,652,1466;ESP6500_CDS_SIZES=NM_002081.2:1677;ESP6500_CG=-4.0;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=20;ESP6500_EA_AC=1823,6763;ESP6500_EA_GTC=180,1463,2650;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002081.2:coding-synonymous;ESP6500_GL=GPC1;ESP6500_GRCh38_POSITION=2:240462324;ESP6500_GTC=247,2115,4116;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002081.2:c.459C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002081.2:p.(R153);ESP6500_MAF=21.2322,17.9863,20.1374;ESP6500_TAC=2609,10347	GT:AD:DP:GQ:PL	0/1:27,28:55:99:643,0,637
chr2	240463419	rs150681136	G	A	396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.396;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.202;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.262;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150681136;dbSNPBuildID=134;ANN=A|structural_interaction_variant|HIGH|GPC1|GPC1|interaction|4AD7:D_264-D_421:NM_002081.2|protein_coding|4/9|c.790G>A||||||,A|missense_variant|MODERATE|GPC1|GPC1|transcript|NM_002081.2|protein_coding|4/9|c.790G>A|p.Gly264Ser|1011/3686|790/1677|264/558||;p3_1000G_AA=G|||;p3_1000G_AC=141;p3_1000G_AF=0.028155;p3_1000G_AFR_AF=0.0106;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=16141;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0.0268;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241402836;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=39,4365;ESP6500_AA_AGE=44.6+/-78.6;ESP6500_AA_GTC=0,39,2163;ESP6500_CDS_SIZES=NM_002081.2:1677;ESP6500_CG=2.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=79;ESP6500_EA_AC=242,8358;ESP6500_EA_AGE=96.3+/-158.1;ESP6500_EA_GTC=3,236,4061;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002081.2:missense;ESP6500_GL=GPC1;ESP6500_GRCh38_POSITION=2:240463419;ESP6500_GS=56;ESP6500_GTC=3,275,6224;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002081.2:c.790G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002081.2:p.(G264S);ESP6500_MAF=2.814,0.8856,2.1609;ESP6500_PH=benign:0.014;ESP6500_TAC=281,12723	GT:AD:DP:GQ:PL	0/1:23,18:41:99:425,0,548
chr2	240464538	rs369472922;rs3830536	GTGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT	G	1512.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.91;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=0.201;SOR=0.586;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369472922,rs3830536;dbSNPBuildID=107,138;ANN=G|intron_variant|MODIFIER|GPC1|GPC1|transcript|NM_002081.2|protein_coding|4/8|c.884-76_884-37delGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2590;p3_1000G_AF=0.517173;p3_1000G_AFR_AF=0.6112;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=28567;p3_1000G_EAS_AF=0.3135;p3_1000G_EUR_AF=0.5915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241403955;p3_1000G_GRCH37_REF=GTGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5143;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:40,40:80:99:0|1:240464538_GTGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT_G:1550,0,1525
chr2	240464573	rs199587685	G	A	835.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.117;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0.966;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=3.78;SOR=0.516;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199587685;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|GPC1|GPC1|transcript|NM_002081.2|protein_coding|4/8|c.884-43G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=244;p3_1000G_AF=0.048722;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=17817;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.0586;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241403990;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0644;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:40,32:72:99:1|0:240464538_GTGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT_G:864,0,1574
chr2	240464796	rs41266965	T	C	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.02;SOR=0.905;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41266965;dbSNPBuildID=127;ANN=C|intron_variant|MODIFIER|GPC1|GPC1|transcript|NM_002081.2|protein_coding|5/8|c.1014+50T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=731;p3_1000G_AF=0.145966;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=17087;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.2127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241404213;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=746,3596;ESP6500_AA_GTC=72,602,1497;ESP6500_CDS_SIZES=NM_002081.2:1677;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=24;ESP6500_EA_AC=1956,6602;ESP6500_EA_GTC=216,1524,2539;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002081.2:intron;ESP6500_GL=GPC1;ESP6500_GRCh38_POSITION=2:240464796;ESP6500_GTC=288,2126,4036;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002081.2:c.1014+50T>C;ESP6500_MAF=22.8558,17.181,20.9457;ESP6500_TAC=2702,10198	GT:AD:DP:GQ:PL	0/1:20,16:36:99:406,0,542
chr2	240464900	rs2229458	C	T	53.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.125;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=0.788;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229458;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|GPC1|GPC1|transcript|NM_002081.2|protein_coding|6/9|c.1059C>T|p.Pro353Pro|1280/3686|1059/1677|353/558||;p3_1000G_AA=C|||;p3_1000G_AC=2588;p3_1000G_AF=0.516773;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=16409;p3_1000G_EAS_AF=0.3026;p3_1000G_EUR_AF=0.5696;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241404317;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2707,1509;ESP6500_AA_GTC=895,917,296;ESP6500_CDS_SIZES=NM_002081.2:1677;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=14;ESP6500_EA_AC=4791,3473;ESP6500_EA_GTC=1486,1819,827;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002081.2:coding-synonymous;ESP6500_GL=GPC1;ESP6500_GRCh38_POSITION=2:240464900;ESP6500_GTC=2381,2736,1123;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002081.2:c.1059C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002081.2:p.(P353);ESP6500_MAF=42.0257,35.7922,39.9199;ESP6500_TAC=7498,4982	GT:AD:DP:GQ:PL	0/1:9,4:13:82:82,0,271
chr2	240465983	rs10700206	C	CGTG	325.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=4.472;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-0.581;SOR=2.833;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10700206;dbSNPBuildID=126;ANN=CGTG|intron_variant|MODIFIER|GPC1|GPC1|transcript|NM_002081.2|protein_coding|8/8|c.1445-74_1445-73insTGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3267;p3_1000G_AF=0.652356;p3_1000G_AFR_AF=0.9047;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=16372;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.6988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241405400;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,9:14:99:363,0,183
chr2	240466068	rs2228330	C	T	577.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.287;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=1.09;SOR=0.604;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228330;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|GPC1|GPC1|transcript|NM_002081.2|protein_coding|9/9|c.1455C>T|p.Gly485Gly|1676/3686|1455/1677|485/558||;p3_1000G_AA=c|||;p3_1000G_AC=727;p3_1000G_AF=0.145168;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=15348;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0.2107;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241405485;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1789;p3_1000G_VT=SNP;ESP6500_AA_AC=758,3630;ESP6500_AA_GTC=79,600,1515;ESP6500_CDS_SIZES=NM_002081.2:1677;ESP6500_CG=2.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=21;ESP6500_EA_AC=1940,6622;ESP6500_EA_GTC=215,1510,2556;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002081.2:coding-synonymous;ESP6500_GL=GPC1;ESP6500_GRCh38_POSITION=2:240466068;ESP6500_GTC=294,2110,4071;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002081.2:c.1455C>T;ESP6500_HGVS_PROTEIN_VAR=NM_002081.2:p.(G485);ESP6500_MAF=22.6583,17.2744,20.834;ESP6500_TAC=2698,10252	GT:AD:DP:GQ:PL	0/1:8,23:31:99:606,0,248
chr2	240466111	rs2228331	A	G	1256.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=1.547;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228331;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|GPC1|GPC1|transcript|NM_002081.2|protein_coding|9/9|c.1498A>G|p.Ser500Gly|1719/3686|1498/1677|500/558||;p3_1000G_AA=g|||;p3_1000G_AC=3327;p3_1000G_AF=0.664337;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=13079;p3_1000G_EAS_AF=0.3383;p3_1000G_EUR_AF=0.7048;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241405528;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6186;p3_1000G_VT=SNP;ESP6500_AA_AC=3936,470;ESP6500_AA_AGE=217.8+/-236.0;ESP6500_AA_GTC=1750,436,17;ESP6500_CDS_SIZES=NM_002081.2:1677;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=45;ESP6500_EA_AC=6121,2477;ESP6500_EA_AGE=404.0+/-348.0;ESP6500_EA_GTC=2179,1763,357;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002081.2:missense;ESP6500_GL=GPC1;ESP6500_GRCh38_POSITION=2:240466111;ESP6500_GS=56;ESP6500_GTC=3929,2199,374;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002081.2:c.1498A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002081.2:p.(S500G);ESP6500_MAF=28.809,10.6673,22.6623;ESP6500_PH=benign:0.0;ESP6500_TAC=10057,2947	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1285,108,0
chr2	240499909	rs12994525	G	C	598.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.354;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=4.23;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=-0.916;SOR=0.162;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12994525;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|15/17|c.2806+49C>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|11/13|c.1876+49C>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|14/16|c.1822+49C>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|14/16|c.2539+49C>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|11/13|c.1867+49C>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|12/14|c.2245+49C>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=1717;p3_1000G_AF=0.342851;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=16300;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241439326;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP;ESP6500_AA_AC=537,3843;ESP6500_AA_GTC=30,477,1683;ESP6500_CDS_SIZES=NM_017844.2:2154,NM_016552.2:2826;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=12;ESP6500_EA_AC=2079,6471;ESP6500_EA_GTC=281,1517,2477;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017844.2:intron,NM_016552.2:intron;ESP6500_GL=ANKMY1;ESP6500_GRCh38_POSITION=2:240499909;ESP6500_GTC=311,1994,4160;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017844.2:c.1867+49C>G,NM_016552.2:c.2539+49C>G;ESP6500_MAF=24.3158,12.2603,20.232;ESP6500_TAC=2616,10314	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,17:38:99:0|1:240499909_G_C:627,0,2183
chr2	240499912	rs12994526	G	T	598.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.01;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=6.635;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=0.072;SOR=0.129;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12994526;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|15/17|c.2806+46C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|11/13|c.1876+46C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|14/16|c.1822+46C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|14/16|c.2539+46C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|11/13|c.1867+46C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|12/14|c.2245+46C>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=1716;p3_1000G_AF=0.342652;p3_1000G_AFR_AF=0.118;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=16344;p3_1000G_EAS_AF=0.6806;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241439329;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP;ESP6500_AA_AC=548,3834;ESP6500_AA_GTC=29,490,1672;ESP6500_CDS_SIZES=NM_017844.2:2154,NM_016552.2:2826;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=14;ESP6500_EA_AC=2121,6433;ESP6500_EA_GTC=284,1553,2440;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017844.2:intron,NM_016552.2:intron;ESP6500_GL=ANKMY1;ESP6500_GRCh38_POSITION=2:240499912;ESP6500_GTC=313,2043,4112;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_017844.2:c.1867+46C>A,NM_016552.2:c.2539+46C>A;ESP6500_MAF=24.7954,12.5057,20.6323;ESP6500_TAC=2669,10267	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,16:38:99:0|1:240499909_G_C:627,0,2183
chr2	240499920	rs12994534	G	A	642.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.63;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=3.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=0.38;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12994534;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|15/17|c.2806+38C>T||||||,A|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|11/13|c.1876+38C>T||||||,A|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|14/16|c.1822+38C>T||||||,A|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|14/16|c.2539+38C>T||||||,A|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|11/13|c.1867+38C>T||||||,A|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|12/14|c.2245+38C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=2161;p3_1000G_AF=0.43151;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=16392;p3_1000G_EAS_AF=0.751;p3_1000G_EUR_AF=0.3837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241439337;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA_AC=871,3525;ESP6500_AA_GTC=81,709,1408;ESP6500_CDS_SIZES=NM_017844.2:2154,NM_016552.2:2826;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=17;ESP6500_EA_AC=2904,5668;ESP6500_EA_GTC=477,1950,1859;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017844.2:intron,NM_016552.2:intron;ESP6500_GL=ANKMY1;ESP6500_GRCh38_POSITION=2:240499920;ESP6500_GTC=558,2659,3267;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017844.2:c.1867+38C>T,NM_016552.2:c.2539+38C>T;ESP6500_MAF=33.8777,19.8135,29.1101;ESP6500_TAC=3775,9193	GT:AD:DP:GQ:PGT:PID:PL	0/1:22,18:40:99:0|1:240499909_G_C:671,0,2141
chr2	240500603	rs12986801	T	C	306.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.24;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.75;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12986801;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|13/17|c.2527-38A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|9/13|c.1597-38A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|12/16|c.1543-38A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|12/16|c.2260-38A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|9/13|c.1588-38A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|10/14|c.1966-38A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2779;p3_1000G_AF=0.554912;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=19093;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.5268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241440020;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1604,2802;ESP6500_AA_AGE=654.4+/-399.7;ESP6500_AA_GTC=298,1008,897;ESP6500_CDS_SIZES=NM_017844.2:2154,NM_016552.2:2826;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=49;ESP6500_EA_AC=4291,4307;ESP6500_EA_AGE=566.0+/-388.6;ESP6500_EA_GTC=1062,2167,1070;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017844.2:intron,NM_016552.2:intron;ESP6500_GL=ANKMY1;ESP6500_GRCh38_POSITION=2:240500603;ESP6500_GTC=1360,3175,1967;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017844.2:c.1588-38A>G,NM_016552.2:c.2260-38A>G;ESP6500_MAF=49.907,36.4049,45.3322;ESP6500_TAC=5895,7109	GT:AD:DP:GQ:PL	0/1:21,11:32:99:335,0,634
chr2	240509243	rs564955310;rs59967171;rs72998010	G	GGATA	403.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.43;ReadPosRankSum=1.83;SOR=1.329;INS;HET;VARTYPE=INS;dbSNP138_ID=rs59967171;dbSNPBuildID=142,137;ANN=GGATA|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|12/17|c.2394+101_2394+104dupTATC||||||,GGATA|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|9/13|c.1596+2614_1596+2617dupTATC||||||,GGATA|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|11/16|c.1410+101_1410+104dupTATC||||||,GGATA|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|11/16|c.2127+101_2127+104dupTATC||||||,GGATA|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|8/13|c.1456-1556_1456-1553dupTATC||||||,GGATA|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|9/14|c.1834-1556_1834-1553dupTATC||||||;p3_1000G_AC=1455;p3_1000G_AF=0.290535;p3_1000G_AFR_AF=0.2436;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=23429;p3_1000G_EAS_AF=0.3413;p3_1000G_EUR_AF=0.2823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241448660;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP,INDEL	GT:AD:DP:GQ:PL	0/1:7,11:18:99:441,0,346
chr2	240512781	rs12695025	T	C	775.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.41;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=4.034;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.793;SOR=0.286;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12695025;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|10/17|c.2145+21A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|8/13|c.1455+21A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|9/16|c.1161+21A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|9/16|c.1878+21A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|8/13|c.1455+21A>G||||||,C|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|8/14|c.1692+21A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3392;p3_1000G_AF=0.677316;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=19428;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241452198;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2547,1859;ESP6500_AA_AGE=535.3+/-374.2;ESP6500_AA_GTC=747,1053,403;ESP6500_CDS_SIZES=NM_017844.2:2154,NM_016552.2:2826;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=73;ESP6500_EA_AC=5693,2907;ESP6500_EA_AGE=449.7+/-362.2;ESP6500_EA_GTC=1885,1923,492;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017844.2:intron,NM_016552.2:intron;ESP6500_GL=ANKMY1;ESP6500_GRCh38_POSITION=2:240512781;ESP6500_GTC=2632,2976,895;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017844.2:c.1455+21A>G,NM_016552.2:c.1878+21A>G;ESP6500_MAF=33.8023,42.1925,36.6446;ESP6500_TAC=8240,4766	GT:AD:DP:GQ:PL	0/1:28,29:57:99:804,0,754
chr2	240512795	rs12695026	T	C	721.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.047;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=3.44;SOR=0.985;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12695026;dbSNPBuildID=121;ANN=C|splice_region_variant&intron_variant|LOW|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|10/17|c.2145+7A>G||||||,C|splice_region_variant&intron_variant|LOW|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|8/13|c.1455+7A>G||||||,C|splice_region_variant&intron_variant|LOW|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|9/16|c.1161+7A>G||||||,C|splice_region_variant&intron_variant|LOW|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|9/16|c.1878+7A>G||||||,C|splice_region_variant&intron_variant|LOW|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|8/13|c.1455+7A>G||||||,C|splice_region_variant&intron_variant|LOW|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|8/14|c.1692+7A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3391;p3_1000G_AF=0.677117;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=19385;p3_1000G_EAS_AF=0.7877;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241452212;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.771;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2545,1861;ESP6500_AA_AGE=538.1+/-374.9;ESP6500_AA_GTC=746,1053,404;ESP6500_CDS_SIZES=NM_017844.2:2154,NM_016552.2:2826;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=91;ESP6500_EA_AC=5697,2903;ESP6500_EA_AGE=452.3+/-362.9;ESP6500_EA_GTC=1886,1925,489;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017844.2:intron,NM_016552.2:intron;ESP6500_GL=ANKMY1;ESP6500_GRCh38_POSITION=2:240512795;ESP6500_GTC=2632,2978,893;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017844.2:c.1455+7A>G,NM_016552.2:c.1878+7A>G;ESP6500_MAF=33.7558,42.2379,36.6292;ESP6500_TAC=8242,4764	GT:AD:DP:GQ:PL	0/1:38,29:67:99:750,0,914
chr2	240524036	rs3821348	C	A	927.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.726;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0.845;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=1.02;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821348;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|8/18|c.1681G>T|p.Val561Leu|1839/3438|1681/3093|561/1030||,A|missense_variant|MODERATE|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|6/14|c.991G>T|p.Val331Leu|1149/2508|991/2163|331/720||,A|missense_variant|MODERATE|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|7/17|c.1414G>T|p.Val472Leu|1676/3275|1414/2826|472/941||,A|missense_variant|MODERATE|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|6/14|c.991G>T|p.Val331Leu|1149/2499|991/2154|331/717||,A|missense_variant|MODERATE|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|6/15|c.1228G>T|p.Val410Leu|1388/2879|1228/2532|410/843||,A|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|6/16|c.724-27G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=818;p3_1000G_AF=0.163339;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=21397;p3_1000G_EAS_AF=0.0992;p3_1000G_EUR_AF=0.1769;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241463453;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=509,3897;ESP6500_AA_AGE=235.8+/-248.2;ESP6500_AA_GTC=33,443,1727;ESP6500_CDS_SIZES=NM_017844.2:2154,NM_016552.2:2826;ESP6500_CG=-8.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=130;ESP6500_EA_AC=1367,7233;ESP6500_EA_AGE=264.6+/-285.7;ESP6500_EA_GTC=99,1169,3032;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017844.2:missense,NM_016552.2:missense;ESP6500_GL=ANKMY1;ESP6500_GRCh38_POSITION=2:240524036;ESP6500_GS=32,32;ESP6500_GTC=132,1612,4759;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_017844.2:c.991G>T,NM_016552.2:c.1414G>T;ESP6500_HGVS_PROTEIN_VAR=NM_017844.2:p.(V331L),NM_016552.2:p.(V472L);ESP6500_MAF=15.8953,11.5524,14.4241;ESP6500_PH=benign:0.002,benign:0.002;ESP6500_TAC=1876,11130	GT:AD:DP:GQ:PL	0/1:51,38:89:99:956,0,1450
chr2	240524078	rs34088616	G	T	1080.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.896;ClippingRankSum=0;DP=111;ExcessHet=3.0103;FS=1.508;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=2.15;SOR=0.558;SNP;HET;VARTYPE=SNP;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|8/18|c.1639C>A|p.Arg547Arg|1797/3438|1639/3093|547/1030||,T|synonymous_variant|LOW|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|6/14|c.949C>A|p.Arg317Arg|1107/2508|949/2163|317/720||,T|synonymous_variant|LOW|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|7/17|c.1372C>A|p.Arg458Arg|1634/3275|1372/2826|458/941||,T|synonymous_variant|LOW|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|6/14|c.949C>A|p.Arg317Arg|1107/2499|949/2154|317/717||,T|synonymous_variant|LOW|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|6/15|c.1186C>A|p.Arg396Arg|1346/2879|1186/2532|396/843||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|6/16|c.724-69C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21013;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241463495;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1109,0,1634
chr2	240552838	rs4676428	G	T	822.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.28;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4676428;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding|4/17|c.480+76C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding|4/13|c.480+76C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding|4/16|c.480+76C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding|3/16|c.213+76C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding|4/13|c.480+76C>A||||||,T|intron_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding|4/14|c.717+76C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3635;p3_1000G_AF=0.725839;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=17928;p3_1000G_EAS_AF=0.8214;p3_1000G_EUR_AF=0.6968;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241492255;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:851,72,0
chr2	240561257	rs4676426	C	G	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.859;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.34;ReadPosRankSum=-0.206;SOR=0.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4676426;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282771.1|protein_coding||c.-3922G>C|||||3236|,G|upstream_gene_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282780.1|protein_coding||c.-3922G>C|||||3236|,G|upstream_gene_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001282781.1|protein_coding||c.-3922G>C|||||3236|,G|upstream_gene_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_016552.3|protein_coding||c.-6323G>C|||||3236|,G|upstream_gene_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_017844.3|protein_coding||c.-3922G>C|||||3236|,G|upstream_gene_variant|MODIFIER|ANKMY1|ANKMY1|transcript|NM_001308375.1|protein_coding||c.-307G>C|||||147|,G|intron_variant|MODIFIER|DUSP28|DUSP28|transcript|NM_001033575.1|protein_coding|1/2|c.394-73C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2432;p3_1000G_AF=0.485623;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=12877;p3_1000G_EAS_AF=0.2867;p3_1000G_EUR_AF=0.5666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241500674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5235;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,18:23:99:519,0,109
chr2	240572632	rs2975769	C	A	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.565;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=9.81;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=1.42;SOR=3.442;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2975769;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|RNPEPL1|RNPEPL1|transcript|NM_018226.4|protein_coding|2/10|c.669+69C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1742;p3_1000G_AF=0.347843;p3_1000G_AFR_AF=0.1732;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=15852;p3_1000G_EAS_AF=0.6687;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241512049;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,10:23:99:1|0:240572622_G_A:296,0,438
chr2	240573053	rs2001823	G	T	1252.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.32;SOR=1.445;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2001823;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|RNPEPL1|RNPEPL1|transcript|NM_018226.4|protein_coding|2/10|c.670-57G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3685;p3_1000G_AF=0.735823;p3_1000G_AFR_AF=0.4539;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=15436;p3_1000G_EAS_AF=0.9812;p3_1000G_EUR_AF=0.7087;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241512470;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1281,120,0
chr2	240577780	rs781751485	C	T	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.34;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0.892;SOR=1.188;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|missense_variant|MODERATE|RNPEPL1|RNPEPL1|transcript|NM_018226.4|protein_coding|11/11|c.2066C>T|p.Thr689Met|2066/3018|2066/2178|689/725||,T|downstream_gene_variant|MODIFIER|CAPN10-AS1|CAPN10-AS1|transcript|NR_103792.1|pseudogene||n.*4970G>A|||||4970|	GT:AD:DP:GQ:PL	0/1:29,15:44:99:336,0,781
chr2	240592320	rs2975762	A	G	317.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.162;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.65;ReadPosRankSum=-0.45;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2975762;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|CAPN10|CAPN10|transcript|NM_023083.3|protein_coding|4/11|c.688+170A>G||||||,G|intron_variant|MODIFIER|CAPN10|CAPN10|transcript|NM_023085.3|protein_coding|4/9|c.688+170A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2567;p3_1000G_AF=0.51258;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=19557;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.6074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241531737;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:346,0,212
chr2	240594428	rs2975763	T	C	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.493;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2975763;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|CAPN10|CAPN10|transcript|NM_023083.3|protein_coding|5/11|c.831-115T>C||||||,C|intron_variant|MODIFIER|CAPN10|CAPN10|transcript|NM_023085.3|protein_coding|5/9|c.831-115T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4503;p3_1000G_AF=0.899161;p3_1000G_AFR_AF=0.9433;p3_1000G_AMR_AF=0.9078;p3_1000G_AN=5008;p3_1000G_DP=14258;p3_1000G_EAS_AF=0.9841;p3_1000G_EUR_AF=0.838;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241533845;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:55:55,0,218
chr2	240598004	rs3749166	G	A	798.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.21;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=17.198;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.82;ReadPosRankSum=-1.284;SOR=0.661;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749166;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|CAPN10|CAPN10|transcript|NM_023083.3|protein_coding|10/12|c.1860G>A|p.Ala620Ala|2056/2644|1860/2019|620/672||,A|synonymous_variant|LOW|CAPN10|CAPN10|transcript|NM_023085.3|protein_coding|8/10|c.1395G>A|p.Ala465Ala|1591/2179|1395/1554|465/517||;p3_1000G_AA=G|||;p3_1000G_AC=2563;p3_1000G_AF=0.511781;p3_1000G_AFR_AF=0.2897;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=17488;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.6074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241537421;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1389,3015;ESP6500_AA_AGE=428.7+/-342.0;ESP6500_AA_GTC=213,963,1026;ESP6500_CDS_SIZES=NM_023085.3:1554,NM_023083.3:2019;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=40;ESP6500_EA_AC=5324,3276;ESP6500_EA_AGE=616.0+/-396.4;ESP6500_EA_GTC=1642,2040,618;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_023085.3:coding-synonymous,NM_023083.3:coding-synonymous;ESP6500_GL=CAPN10;ESP6500_GRCh38_POSITION=2:240598004;ESP6500_GTC=1855,3003,1644;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_023085.3:c.1395G>A,NM_023083.3:c.1860G>A;ESP6500_HGVS_PROTEIN_VAR=NM_023085.3:p.(A465),NM_023083.3:p.(A620);ESP6500_MAF=38.093,31.5395,48.3774;ESP6500_TAC=6713,6291	GT:AD:DP:GQ:PL	0/1:6,29:35:99:827,0,115
chr2	240598200	rs58715822;rs796178916	TC	T	352.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.085;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=11.311;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.56;ReadPosRankSum=0.169;SOR=1.872;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs58715822;dbSNPBuildID=134,146;ANN=T|intron_variant|MODIFIER|CAPN10|CAPN10|transcript|NM_023083.3|protein_coding|10/11|c.1943+115delC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|CAPN10|CAPN10|transcript|NM_023085.3|protein_coding|8/9|c.1478+115delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=cC|CC|C|deletion;p3_1000G_AC=2564;p3_1000G_AF=0.511981;p3_1000G_AFR_AF=0.2897;p3_1000G_AMR_AF=0.5648;p3_1000G_AN=5008;p3_1000G_DP=18185;p3_1000G_EAS_AF=0.6488;p3_1000G_EUR_AF=0.6074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241537617;p3_1000G_GRCH37_REF=TC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,12:19:99:390,0,202
chr2	240598657	rs2975766	A	G	858.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.63;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2975766;dbSNPBuildID=101;ANN=G|missense_variant|MODERATE|CAPN10|CAPN10|transcript|NM_023083.3|protein_coding|12/12|c.1996A>G|p.Ile666Val|2192/2644|1996/2019|666/672||,G|missense_variant|MODERATE|CAPN10|CAPN10|transcript|NM_023085.3|protein_coding|10/10|c.1531A>G|p.Ile511Val|1727/2179|1531/1554|511/517||;p3_1000G_AA=G|||;p3_1000G_AC=4957;p3_1000G_AF=0.989816;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=17029;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9692;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241538074;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA_AC=4352,22;ESP6500_AA_GTC=2165,22,0;ESP6500_CDS_SIZES=NM_023085.3:1554,NM_023083.3:2019;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=22;ESP6500_EA_AC=8312,250;ESP6500_EA_GTC=4036,240,5;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_023085.3:missense,NM_023083.3:missense;ESP6500_GL=CAPN10;ESP6500_GRCh38_POSITION=2:240598657;ESP6500_GS=29,29;ESP6500_GTC=6201,262,5;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_023085.3:c.1531A>G,NM_023083.3:c.1996A>G;ESP6500_HGVS_PROTEIN_VAR=NM_023085.3:p.(I511V),NM_023083.3:p.(I666V);ESP6500_MAF=2.9199,0.503,2.1027;ESP6500_PH=benign:0.008,benign:0.008;ESP6500_TAC=12664,272	GT:AD:DP:GQ:PL	1/1:0,30:30:90:887,90,0
chr2	240598812	rs2975767	A	G	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.83;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-0.431;SOR=3.258;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2975767;dbSNPBuildID=101;ANN=G|3_prime_UTR_variant|MODIFIER|CAPN10|CAPN10|transcript|NM_023083.3|protein_coding|12/12|c.*132A>G|||||132|,G|3_prime_UTR_variant|MODIFIER|CAPN10|CAPN10|transcript|NM_023085.3|protein_coding|10/10|c.*132A>G|||||132|;p3_1000G_AA=G|||;p3_1000G_AC=3638;p3_1000G_AF=0.726438;p3_1000G_AFR_AF=0.5628;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=14850;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241538229;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:31:145,0,31
chr2	240616367	rs12052926	G	T	419.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.238;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=9.734;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=0.246;SOR=0.682;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12052926;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195381.1|protein_coding|2/5|c.-483-21G>T||||||,T|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195382.1|protein_coding|2/5|c.-369-21G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2480;p3_1000G_AF=0.495208;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=17747;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241555784;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1358,3048;ESP6500_AA_AGE=445.9+/-347.8;ESP6500_AA_GTC=198,962,1043;ESP6500_CDS_SIZES=NM_001195382.1:1023,NM_001195381.1:1023;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=173;ESP6500_EA_AC=4627,3973;ESP6500_EA_AGE=598.5+/-393.9;ESP6500_EA_GTC=1226,2175,899;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001195382.1:intron,NM_001195381.1:intron;ESP6500_GL=GPR35;ESP6500_GRCh38_POSITION=2:240616367;ESP6500_GTC=1424,3137,1942;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001195382.1:c.-2576G>T,NM_001195381.1:c.-2576G>T;ESP6500_MAF=46.1977,30.8216,46.0172;ESP6500_TAC=5985,7021	GT:AD:DP:GQ:PL	0/1:41,21:62:99:448,0,1096
chr2	240616574	rs1509	G	T	539.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.565;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=-0.723;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1509;dbSNPBuildID=36;ANN=T|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195381.1|protein_coding|3/5|c.-360+63G>T||||||,T|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195382.1|protein_coding|3/5|c.-246+63G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1465;p3_1000G_AF=0.292532;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=15939;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.2654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241555991;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,18:27:99:568,0,266
chr2	240618980	rs6437353	G	A	698.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.138;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.376;SOR=0.652;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6437353;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|GPR35|GPR35|transcript|NM_001195381.1|protein_coding|5/6|c.38G>A|p.Arg13His|910/2272|38/1023|13/340||,A|missense_variant|MODERATE|GPR35|GPR35|transcript|NM_001195382.1|protein_coding|5/6|c.38G>A|p.Arg13His|796/2158|38/1023|13/340||;p3_1000G_AA=G|||;p3_1000G_AC=2384;p3_1000G_AF=0.476038;p3_1000G_AFR_AF=0.2648;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=20054;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.5149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241558397;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5511;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,30:52:99:727,0,492
chr2	240619130	rs7582275	G	A	322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.22;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.242;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7582275;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195381.1|protein_coding|5/5|c.89+99G>A||||||,A|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195382.1|protein_coding|5/5|c.89+99G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2526;p3_1000G_AF=0.504393;p3_1000G_AFR_AF=0.3169;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=20252;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.5507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241558547;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5552;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,13:26:99:351,0,335
chr2	240629912	rs2975785	A	G	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.79;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=14.835;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.724;SOR=3.767;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2975785;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195381.1|protein_coding|5/5|c.90-37A>G||||||,G|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195382.1|protein_coding|5/5|c.90-37A>G||||||,G|intron_variant|MODIFIER|GPR35|GPR35|transcript|NM_005301.3|protein_coding|1/1|c.-4-37A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2525;p3_1000G_AF=0.504193;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=18351;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.5328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241569329;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1036,3370;ESP6500_AA_AGE=704.5+/-407.1;ESP6500_AA_GTC=106,824,1273;ESP6500_CDS_SIZES=NM_005301.3:930,NM_001195382.1:1023,NM_001195381.1:1023;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=36;ESP6500_EA_AC=4629,3971;ESP6500_EA_AGE=531.7+/-382.0;ESP6500_EA_GTC=1239,2151,910;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005301.3:intron,NM_001195382.1:intron,NM_001195381.1:intron;ESP6500_GL=GPR35;ESP6500_GRCh38_POSITION=2:240629912;ESP6500_GTC=1345,2975,2183;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005301.3:c.-41A>G,NM_001195382.1:c.90-37A>G,NM_001195381.1:c.90-37A>G;ESP6500_MAF=46.1744,23.5134,43.5568;ESP6500_TAC=5665,7341	GT:AD:DP:GQ:PL	0/1:14,13:27:99:393,0,357
chr2	240630275	rs3749171	C	T	540.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.055;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.019;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.209;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749171;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|GPR35|GPR35|transcript|NM_001195381.1|protein_coding|6/6|c.416C>T|p.Thr139Met|1288/2272|416/1023|139/340||,T|missense_variant|MODERATE|GPR35|GPR35|transcript|NM_001195382.1|protein_coding|6/6|c.416C>T|p.Thr139Met|1174/2158|416/1023|139/340||,T|missense_variant|MODERATE|GPR35|GPR35|transcript|NM_005301.3|protein_coding|2/2|c.323C>T|p.Thr108Met|651/1635|323/930|108/309||;p3_1000G_AA=C|||;p3_1000G_AC=755;p3_1000G_AF=0.150759;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=17493;p3_1000G_EAS_AF=0.0863;p3_1000G_EUR_AF=0.173;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241569692;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=993,3413;ESP6500_AA_AGE=360.6+/-315.3;ESP6500_AA_GTC=127,739,1337;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...23128233;ESP6500_CDS_SIZES=NM_005301.3:930,NM_001195382.1:1023,NM_001195381.1:1023;ESP6500_CG=-7.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=40;ESP6500_EA_AC=1478,7120;ESP6500_EA_AGE=277.4+/-292.8;ESP6500_EA_GTC=115,1248,2936;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005301.3:missense,NM_001195382.1:missense,NM_001195381.1:missense;ESP6500_GL=GPR35;ESP6500_GRCh38_POSITION=2:240630275;ESP6500_GS=81,81,81;ESP6500_GTC=242,1987,4273;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23128233;ESP6500_HGVS_CDNA_VAR=NM_005301.3:c.323C>T,NM_001195382.1:c.416C>T,NM_001195381.1:c.416C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005301.3:p.(T108M),NM_001195382.1:p.(T139M),NM_001195381.1:p.(T139M);ESP6500_MAF=17.19,22.5374,19.0018;ESP6500_PH=probably-damaging:0.984,probably-damaging:0.984,probably-damaging:0.984;ESP6500_TAC=2471,10533	GT:AD:DP:GQ:PL	0/1:33,25:58:99:569,0,965
chr2	240630832	rs3749172	A	C	965.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=95;ExcessHet=3.0103;FS=5.305;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.672;SOR=1.236;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749172;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|GPR35|GPR35|transcript|NM_001195381.1|protein_coding|6/6|c.973A>C|p.Ser325Arg|1845/2272|973/1023|325/340||,C|missense_variant|MODERATE|GPR35|GPR35|transcript|NM_001195382.1|protein_coding|6/6|c.973A>C|p.Ser325Arg|1731/2158|973/1023|325/340||,C|missense_variant|MODERATE|GPR35|GPR35|transcript|NM_005301.3|protein_coding|2/2|c.880A>C|p.Ser294Arg|1208/1635|880/930|294/309||;p3_1000G_AA=A|||;p3_1000G_AC=2584;p3_1000G_AF=0.515974;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.3862;p3_1000G_AN=5008;p3_1000G_DP=17571;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.5596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241570249;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7996;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1088,3318;ESP6500_AA_AGE=395.4+/-329.6;ESP6500_AA_GTC=115,858,1230;ESP6500_CDS_SIZES=NM_005301.3:930,NM_001195382.1:1023,NM_001195381.1:1023;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=120;ESP6500_EA_AC=4857,3743;ESP6500_EA_AGE=615.5+/-396.4;ESP6500_EA_GTC=1362,2133,805;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_005301.3:missense,NM_001195382.1:missense,NM_001195381.1:missense;ESP6500_GL=GPR35;ESP6500_GRCh38_POSITION=2:240630832;ESP6500_GS=110,110,110;ESP6500_GTC=1477,2991,2035;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005301.3:c.880A>C,NM_001195382.1:c.973A>C,NM_001195381.1:c.973A>C;ESP6500_HGVS_PROTEIN_VAR=NM_005301.3:p.(S294R),NM_001195382.1:p.(S325R),NM_001195381.1:p.(S325R);ESP6500_MAF=43.5233,24.6936,45.7097;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=5945,7061	GT:AD:DP:GQ:PL	0/1:55,40:95:99:994,0,1310
chr2	240630974	rs2975786	A	G	489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2975786;dbSNPBuildID=101;ANN=G|3_prime_UTR_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195381.1|protein_coding|6/6|c.*92A>G|||||92|,G|3_prime_UTR_variant|MODIFIER|GPR35|GPR35|transcript|NM_001195382.1|protein_coding|6/6|c.*92A>G|||||92|,G|3_prime_UTR_variant|MODIFIER|GPR35|GPR35|transcript|NM_005301.3|protein_coding|2/2|c.*92A>G|||||92|;p3_1000G_AA=G|||;p3_1000G_AC=4190;p3_1000G_AF=0.836661;p3_1000G_AFR_AF=0.7474;p3_1000G_AMR_AF=0.7939;p3_1000G_AN=5008;p3_1000G_DP=16599;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.7376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241570391;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:518,39,0
chr2	240719951	rs6437368	C	A	490.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6437368;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|45/48|c.4869-25G>T||||||,A|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|42/45|c.4566-25G>T||||||,A|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|44/47|c.4593-25G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4107;p3_1000G_AF=0.820088;p3_1000G_AFR_AF=0.848;p3_1000G_AMR_AF=0.781;p3_1000G_AN=5008;p3_1000G_DP=15860;p3_1000G_EAS_AF=0.9206;p3_1000G_EUR_AF=0.7376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241659368;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7914;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3321,659;ESP6500_AA_GTC=1389,543,58;ESP6500_CDS_SIZES=NM_004321.6:5073,NM_001244008.1:5376;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=23;ESP6500_EA_AC=6164,2190;ESP6500_EA_GTC=2300,1564,313;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004321.6:intron,NM_001244008.1:intron;ESP6500_GL=KIF1A;ESP6500_GRCh38_POSITION=2:240719951;ESP6500_GTC=3689,2107,371;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_004321.6:c.4566-25G>T,NM_001244008.1:c.4869-25G>T;ESP6500_MAF=26.215,16.5578,23.0988;ESP6500_TAC=9485,2849	GT:AD:DP:GQ:PL	1/1:0,15:15:45:519,45,0
chr2	240723602	rs2043252	C	T	2028.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=1.071;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2043252;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|41/48|c.4319-44G>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|38/45|c.4016-44G>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|40/47|c.4043-44G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1697;p3_1000G_AF=0.338858;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=19739;p3_1000G_EAS_AF=0.3343;p3_1000G_EUR_AF=0.3718;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241663019;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=481,3459;ESP6500_AA_GTC=32,417,1521;ESP6500_CDS_SIZES=NM_004321.6:5073,NM_001244008.1:5376;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=11;ESP6500_EA_AC=2690,5400;ESP6500_EA_GTC=463,1764,1818;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004321.6:intron,NM_001244008.1:intron;ESP6500_GL=KIF1A;ESP6500_GRCh38_POSITION=2:240723602;ESP6500_GTC=495,2181,3339;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004321.6:c.4016-44G>A,NM_001244008.1:c.4319-44G>A;ESP6500_MAF=33.2509,12.2081,26.3591;ESP6500_TAC=3171,8859	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2057,179,0
chr2	240740047	rs56847463;138058	A	G	435.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.291;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.6;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=1.4;SOR=1.222;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56847463;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|37/48|c.3901+11T>C||||||,G|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|34/45|c.3598+11T>C||||||,G|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|36/47|c.3625+11T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=136;p3_1000G_AF=0.0271565;p3_1000G_AFR_AF=0.0393;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=14446;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241679464;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=222,4034;ESP6500_AA_GTC=6,210,1912;ESP6500_CDS_SIZES=NM_004321.6:5073,NM_001244008.1:5376;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=40;ESP6500_EA_AC=7,8445;ESP6500_EA_GTC=0,7,4219;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004321.6:intron,NM_001244008.1:intron;ESP6500_GL=KIF1A;ESP6500_GRCh38_POSITION=2:240740047;ESP6500_GTC=6,217,6131;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004321.6:c.3598+11T>C,NM_001244008.1:c.3901+11T>C;ESP6500_MAF=0.0828,5.2162,1.802;ESP6500_TAC=229,12479;CLINVAR_AF_ESP=0.0180;CLINVAR_AF_EXAC=0.01932;CLINVAR_AF_TGP=0.0272;CLINVAR_ALLELEID=141761;CLINVAR_CLNDISDB=MedGen:C0020072|MedGen:CN169374|MedGen:CN239282|MedGen:CN239433;CLINVAR_CLNDN=Hereditary_sensory_and_autonomic_neuropathy_type_II|not_specified|Intellectual_Disability,_Dominant|Spastic_Paraplegia,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.240740047A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:82725;CLINVAR_GENEINFO=KIF1A:547;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56847463	GT:AD:DP:GQ:PL	0/1:29,20:49:99:464,0,756
chr2	240741216	rs4414678	G	T	1472.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.73;SOR=1.038;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4414678;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|35/48|c.3749+53C>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|32/45|c.3446+53C>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|34/47|c.3473+53C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2461;p3_1000G_AF=0.491414;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.4741;p3_1000G_AN=5008;p3_1000G_DP=17351;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.3648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241680633;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1501,135,0
chr2	240741385	rs56024577;129391	G	A	472.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.062;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.238;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56024577;dbSNPBuildID=129;ANN=A|splice_region_variant&intron_variant|LOW|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|34/48|c.3641-8C>T||||||,A|splice_region_variant&intron_variant|LOW|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|31/45|c.3338-8C>T||||||,A|splice_region_variant&intron_variant|LOW|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|33/47|c.3365-8C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1457;p3_1000G_AF=0.290935;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=18279;p3_1000G_EAS_AF=0.4226;p3_1000G_EUR_AF=0.2753;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241680802;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=243,4069;ESP6500_AA_GTC=2,239,1915;ESP6500_CDS_SIZES=NM_004321.6:5073,NM_001244008.1:5376;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=40;ESP6500_EA_AC=2132,6376;ESP6500_EA_GTC=271,1590,2393;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004321.6:intron,NM_001244008.1:intron;ESP6500_GL=KIF1A;ESP6500_GRCh38_POSITION=2:240741385;ESP6500_GTC=273,1829,4308;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004321.6:c.3338-8C>T,NM_001244008.1:c.3641-8C>T;ESP6500_MAF=25.0588,5.6354,18.5257;ESP6500_TAC=2375,10445;CLINVAR_AF_ESP=0.1853;CLINVAR_AF_EXAC=0.41446;CLINVAR_AF_TGP=0.2909;CLINVAR_ALLELEID=134837;CLINVAR_CLNDISDB=MedGen:C0020072|MedGen:CN169374|MedGen:CN239282|MedGen:CN239433;CLINVAR_CLNDN=Hereditary_sensory_and_autonomic_neuropathy_type_II|not_specified|Intellectual_Disability,_Dominant|Spastic_Paraplegia,_Recessive;CLINVAR_CLNHGVS=NC_000002.12:g.240741385G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28527;CLINVAR_GENEINFO=KIF1A:547;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=56024577	GT:AD:DP:GQ:PL	0/1:14,17:31:99:501,0,361
chr2	240750568	rs117453244	C	T	461.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.585;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.579;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.269;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117453244;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|27/48|c.2859-21G>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|24/45|c.2556-21G>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|26/47|c.2583-21G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=89;p3_1000G_AF=0.0177716;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18019;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241689985;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,4276;ESP6500_AA_GTC=0,0,2138;ESP6500_CDS_SIZES=NM_004321.6:5073,NM_001244008.1:5376;ESP6500_CG=-8.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=40;ESP6500_EA_AC=6,8484;ESP6500_EA_GTC=0,6,4239;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004321.6:intron,NM_001244008.1:intron;ESP6500_GL=KIF1A;ESP6500_GRCh38_POSITION=2:240750568;ESP6500_GTC=0,6,6377;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004321.6:c.2556-21G>A,NM_001244008.1:c.2859-21G>A;ESP6500_MAF=0.0707,0.0,0.047;ESP6500_TAC=6,12760	GT:AD:DP:GQ:PL	0/1:14,19:33:99:490,0,378
chr2	240757423	rs10594016;284274	ATCC	A	522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.714;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=3.211;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.03;ReadPosRankSum=0.199;SOR=1.345;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs71779512,rs10594016;dbSNPBuildID=136;ANN=A|disruptive_inframe_deletion|MODERATE|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|27/49|c.2751_2753delGGA|p.Glu917del|3000/9223|2751/5376|917/1791||,A|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|24/45|c.2555+934_2555+936delGGA||||||,A|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|26/47|c.2582+934_2582+936delGGA||||||;CLINVAR_ALLELEID=268511;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.240757424_240757426delTCC;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=KIF1A:547;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10594016	GT:AD:DP:GQ:PL	0/1:14,15:29:99:551,0,586
chr2	240763144	rs11688298	T	A	759.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=3.704;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.33;SOR=0.3;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11688298;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|21/48|c.1949+22A>T||||||,A|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|19/45|c.1922+22A>T||||||,A|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|21/47|c.1949+22A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3017;p3_1000G_AF=0.602436;p3_1000G_AFR_AF=0.7254;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=14107;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.5805;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241702561;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2897,1313;ESP6500_AA_GTC=999,899,207;ESP6500_CDS_SIZES=NM_004321.6:5073,NM_001244008.1:5376;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=21;ESP6500_EA_AC=4722,3706;ESP6500_EA_GTC=1320,2082,812;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004321.6:intron,NM_001244008.1:intron;ESP6500_GL=KIF1A;ESP6500_GRCh38_POSITION=2:240763144;ESP6500_GTC=2319,2981,1019;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_004321.6:c.1922+22A>T,NM_001244008.1:c.1949+22A>T;ESP6500_MAF=43.9725,31.1876,39.7136;ESP6500_TAC=7619,5019	GT:AD:DP:GQ:PL	0/1:34,31:65:99:788,0,858
chr2	240766810	rs11681427	C	T	350.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.672;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.49;ReadPosRankSum=0.569;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11681427;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|19/48|c.1684+105G>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|17/45|c.1657+105G>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|19/47|c.1684+105G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=517;p3_1000G_AF=0.103235;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=13784;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241706227;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,14:18:99:379,0,111
chr2	240767457	rs3821346	C	T	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.638;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=5.229;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=-0.374;SOR=3.383;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821346;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|17/48|c.1498-112G>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|15/45|c.1471-112G>A||||||,T|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|17/47|c.1498-112G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.025;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=17591;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.2247;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241706874;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:97:240,0,97
chr2	240783196	rs2288749	A	G	46.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.126;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2288749;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001244008.1|protein_coding|8/48|c.799-87T>C||||||,G|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_004321.6|protein_coding|7/45|c.799-87T>C||||||,G|intron_variant|MODIFIER|KIF1A|KIF1A|transcript|NM_001320705.1|protein_coding|8/47|c.799-87T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2706;p3_1000G_AF=0.540335;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.4409;p3_1000G_AN=5008;p3_1000G_DP=14578;p3_1000G_EAS_AF=0.4891;p3_1000G_EUR_AF=0.4881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241722613;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:65:75,0,65
chr2	240869408	rs1382375929;rs180177209;rs140694338;204033	AGGCCTCCCT	A	112.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.83;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs140694338,rs180177209;dbSNPBuildID=151,135;ANN=A|intron_variant|MODIFIER|AGXT|AGXT|transcript|NM_000030.2|protein_coding|2/10|c.358+56_358+64delGGCCTCCCT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1203;p3_1000G_AF=0.240216;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=19307;p3_1000G_EAS_AF=0.2381;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241808825;p3_1000G_GRCH37_REF=AGGCCTCCCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=INDEL;ESP6500_AA_AC=568,3686;ESP6500_AA_GTC=37,494,1596;ESP6500_CDS_SIZES=NM_000030.2:1179;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=23;ESP6500_EA_AC=2956,5240;ESP6500_EA_GTC=591,1774,1733;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000030.2:intron;ESP6500_GL=AGXT;ESP6500_GRCh38_POSITION=2:240869408;ESP6500_GTC=628,2268,3329;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_000030.2:c.358+47_358+55del9;ESP6500_MAF=36.0664,13.3521,28.3052;ESP6500_TAC=3524,8926;CLINVAR_ALLELEID=200480;CLINVAR_CLNDISDB=MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED_CT:65520001;CLINVAR_CLNDN=Primary_hyperoxaluria,_type_I;CLINVAR_CLNHGVS=NC_000002.12:g.240869418_240869426delGGCCTCCCT;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=AGXT:189;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=180177209	GT:AD:DP:GQ:PL	0/1:6,4:10:99:150,0,594
chr2	240871540	rs10196315;204041	C	T	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.258;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.039;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10196315;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|AGXT|AGXT|transcript|NM_000030.2|protein_coding|4/10|c.524+91C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1201;p3_1000G_AF=0.239816;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=16460;p3_1000G_EAS_AF=0.2391;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241810957;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.2398;CLINVAR_ALLELEID=200508;CLINVAR_CLNDISDB=MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED_CT:65520001;CLINVAR_CLNDN=Primary_hyperoxaluria,_type_I;CLINVAR_CLNHGVS=NC_000002.12:g.240871540C>T;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGXT:189;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=10196315	GT:AD:DP:GQ:PL	0/1:11,7:18:99:221,0,377
chr2	240873149	rs12997245	G	A	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.808;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=1.08;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12997245;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|AGXT|AGXT|transcript|NM_000030.2|protein_coding|5/10|c.595+100G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1524;p3_1000G_AF=0.304313;p3_1000G_AFR_AF=0.3351;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=19287;p3_1000G_EAS_AF=0.2431;p3_1000G_EUR_AF=0.3966;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241812566;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,13:20:99:332,0,161
chr2	240875890	rs12478859;204050	C	T	3058.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.53;SOR=1.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12478859;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|AGXT|AGXT|transcript|NM_000030.2|protein_coding|7/10|c.777-45C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1201;p3_1000G_AF=0.239816;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=18252;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.4085;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241815307;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA_AC=721,3685;ESP6500_AA_GTC=50,621,1532;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...189&amp%3Brs...12478859;ESP6500_CDS_SIZES=NM_000030.2:1179;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=85;ESP6500_EA_AC=3284,5316;ESP6500_EA_GTC=655,1974,1671;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000030.2:intron;ESP6500_GL=AGXT;ESP6500_GRCh38_POSITION=2:240875890;ESP6500_GTC=705,2595,3203;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000030.2:c.777-45C>T;ESP6500_MAF=38.186,16.364,30.7935;ESP6500_TAC=4005,9001;CLINVAR_AF_ESP=0.3079;CLINVAR_AF_EXAC=0.32684;CLINVAR_AF_TGP=0.2398;CLINVAR_ALLELEID=200550;CLINVAR_CLNDISDB=MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED_CT:65520001;CLINVAR_CLNDN=Primary_hyperoxaluria,_type_I;CLINVAR_CLNHGVS=NC_000002.12:g.240875890C>T;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGXT:189;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12478859	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,68:68:99:1|1:240875890_C_T:3087,208,0
chr2	240875891	rs12464426;204049	A	G	3058.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.61;SOR=1.385;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12464426;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|AGXT|AGXT|transcript|NM_000030.2|protein_coding|7/10|c.777-44A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3913;p3_1000G_AF=0.78135;p3_1000G_AFR_AF=0.9879;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=18207;p3_1000G_EAS_AF=0.7808;p3_1000G_EUR_AF=0.7396;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241815308;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP;ESP6500_AA_AC=4179,227;ESP6500_AA_AGE=132.9+/-169.3;ESP6500_AA_GTC=1982,215,6;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...189&amp%3Brs...12464426;ESP6500_CDS_SIZES=NM_000030.2:1179;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=87;ESP6500_EA_AC=6316,2284;ESP6500_EA_AGE=366.7+/-334.4;ESP6500_EA_GTC=2342,1632,326;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000030.2:intron;ESP6500_GL=AGXT;ESP6500_GRCh38_POSITION=2:240875891;ESP6500_GTC=4324,1847,332;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_000030.2:c.777-44A>G;ESP6500_MAF=26.5581,5.1521,19.3065;ESP6500_TAC=10495,2511;CLINVAR_ALLELEID=200551;CLINVAR_CLNDISDB=MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED_CT:65520001;CLINVAR_CLNDN=Primary_hyperoxaluria,_type_I;CLINVAR_CLNHGVS=NC_000002.12:g.240875891A>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGXT:189;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12464426	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,69:69:99:1|1:240875890_C_T:3087,208,0
chr2	240876056	rs12695032;204054	G	A	1623.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.64;SOR=1.938;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12695032;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|AGXT|AGXT|transcript|NM_000030.2|protein_coding|8/10|c.846+52G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1719;p3_1000G_AF=0.343251;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=18355;p3_1000G_EAS_AF=0.3393;p3_1000G_EUR_AF=0.5805;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241815473;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.365;p3_1000G_VT=SNP;ESP6500_AA_AC=498,2156;ESP6500_AA_GTC=45,408,874;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...189&amp%3Brs...12695032;ESP6500_CDS_SIZES=NM_000030.2:1179;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=79;ESP6500_EA_AC=2601,2017;ESP6500_EA_GTC=761,1079,469;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000030.2:intron;ESP6500_GL=AGXT;ESP6500_GRCh38_POSITION=2:240876056;ESP6500_GTC=806,1487,1343;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000030.2:c.846+52G>A;ESP6500_MAF=43.6769,18.7641,42.6155;ESP6500_TAC=3099,4173;CLINVAR_AF_ESP=0.4262;CLINVAR_AF_EXAC=0.48223;CLINVAR_AF_TGP=0.3433;CLINVAR_ALLELEID=200569;CLINVAR_CLNDISDB=MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED_CT:65520001;CLINVAR_CLNDN=Primary_hyperoxaluria,_type_I;CLINVAR_CLNHGVS=NC_000002.12:g.240876056G>A;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=AGXT:189;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12695032	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1652,158,0
chr2	240878600	rs35566646	G	A	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.921;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35566646;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|AGXT|AGXT|transcript|NM_000030.2|protein_coding|10/10|c.1072-114G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1510;p3_1000G_AF=0.301518;p3_1000G_AFR_AF=0.289;p3_1000G_AMR_AF=0.2608;p3_1000G_AN=5008;p3_1000G_DP=16716;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.4215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241818017;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:86:153,0,86
chr2	240878862	rs4273214;204063	C	A	196.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=1.38;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4273214;dbSNPBuildID=111;ANN=A|3_prime_UTR_variant|MODIFIER|AGXT|AGXT|transcript|NM_000030.2|protein_coding|11/11|c.*41C>A|||||41|;p3_1000G_AA=C|||;p3_1000G_AC=1263;p3_1000G_AF=0.252196;p3_1000G_AFR_AF=0.115;p3_1000G_AMR_AF=0.2363;p3_1000G_AN=5008;p3_1000G_DP=18219;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.4215;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241818279;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=657,3703;ESP6500_AA_GTC=59,539,1582;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...189&amp%3Brs...4273214;ESP6500_CDS_SIZES=NM_000030.2:1179;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=17;ESP6500_EA_AC=3267,5261;ESP6500_EA_GTC=650,1967,1647;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000030.2:utr-3;ESP6500_GL=AGXT;ESP6500_GRCh38_POSITION=2:240878862;ESP6500_GTC=709,2506,3229;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_000030.2:c.*41C>A;ESP6500_MAF=38.3091,15.0688,30.4469;ESP6500_TAC=3924,8964;CLINVAR_AF_ESP=0.3045;CLINVAR_AF_EXAC=0.35720;CLINVAR_AF_TGP=0.2522;CLINVAR_ALLELEID=200610;CLINVAR_CLNDISDB=MedGen:C0020501,Orphanet:ORPHA416,SNOMED_CT:17901006|MedGen:C0268164,OMIM:259900,Orphanet:ORPHA93598,SNOMED_CT:65520001;CLINVAR_CLNDN=Primary_hyperoxaluria|Primary_hyperoxaluria,_type_I;CLINVAR_CLNHGVS=NC_000002.12:g.240878862C>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28563;CLINVAR_GENEINFO=AGXT:189;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4273214	GT:AD:DP:GQ:PL	0/1:15,8:23:99:225,0,390
chr2	240888279	rs4675869	A	G	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.45;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.869;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=-0.445;SOR=2.165;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675869;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|4/4|c.1251+13T>C||||||,G|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding|4/4|c.804+13T>C||||||,G|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding|4/4|c.747+13T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=3597;p3_1000G_AF=0.718251;p3_1000G_AFR_AF=0.8911;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=13102;p3_1000G_EAS_AF=0.752;p3_1000G_EUR_AF=0.7217;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241827696;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5307;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2679,339;ESP6500_AA_GTC=1194,291,24;ESP6500_CDS_SIZES=NM_024861.2:840,NM_001085437.1:1344;ESP6500_CG=-7.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=8;ESP6500_EA_AC=4878,1762;ESP6500_EA_GTC=1809,1260,251;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024861.2:intron,NM_001085437.1:intron;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240888279;ESP6500_GTC=3003,1551,275;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024861.2:c.747+13T>C,NM_001085437.1:c.1251+13T>C;ESP6500_MAF=26.5361,11.2326,21.754;ESP6500_TAC=7557,2101	GT:AD:DP:GQ:PL	0/1:12,4:16:98:98,0,316
chr2	240888595	rs6708304	T	C	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.43;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.842;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-0.185;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6708304;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|4/5|c.948A>G|p.Glu316Glu|1107/2525|948/1344|316/447||,C|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding|4/5|c.501A>G|p.Glu167Glu|600/2018|501/897|167/298||,C|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding|4/5|c.444A>G|p.Glu148Glu|543/1961|444/840|148/279||;p3_1000G_AA=C|||;p3_1000G_AC=2843;p3_1000G_AF=0.567692;p3_1000G_AFR_AF=0.8192;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=9793;p3_1000G_EAS_AF=0.5278;p3_1000G_EUR_AF=0.5219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241828012;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3233,979;ESP6500_AA_GTC=1276,681,149;ESP6500_CDS_SIZES=NM_024861.2:840,NM_001085437.1:1344;ESP6500_CG=1.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=13;ESP6500_EA_AC=4211,4237;ESP6500_EA_GTC=1104,2003,1117;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024861.2:coding-synonymous,NM_001085437.1:coding-synonymous;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240888595;ESP6500_GTC=2380,2684,1266;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024861.2:c.444A>G,NM_001085437.1:c.948A>G;ESP6500_HGVS_PROTEIN_VAR=NM_024861.2:p.(E148),NM_001085437.1:p.(E316);ESP6500_MAF=49.8461,23.2431,41.2006;ESP6500_TAC=7444,5216	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,5:17:99:0|1:240888595_T_C:164,0,313
chr2	240888617	rs6707568	A	G	370.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.71;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6707568;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|4/5|c.926T>C|p.Leu309Pro|1085/2525|926/1344|309/447||,G|missense_variant|MODERATE|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding|4/5|c.479T>C|p.Leu160Pro|578/2018|479/897|160/298||,G|missense_variant|MODERATE|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding|4/5|c.422T>C|p.Leu141Pro|521/1961|422/840|141/279||;p3_1000G_AA=G|||;p3_1000G_AC=4949;p3_1000G_AF=0.988219;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=9246;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9911;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241828034;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9571;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4126,6;ESP6500_AA_GTC=2060,6,0;ESP6500_CDS_SIZES=NM_024861.2:840,NM_001085437.1:1344;ESP6500_CG=4.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=10;ESP6500_EA_AC=8197,161;ESP6500_EA_GTC=4018,161,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024861.2:missense,NM_001085437.1:missense;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240888617;ESP6500_GS=98,98;ESP6500_GTC=6078,167,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024861.2:c.422T>C,NM_001085437.1:c.926T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024861.2:p.(L141P),NM_001085437.1:p.(L309P);ESP6500_MAF=1.9263,0.1452,1.3371;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12323,167	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,11:11:33:1|1:240888595_T_C:399,33,0
chr2	240891527	rs10171053	G	T	1003.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.648;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=7.689;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.48;ReadPosRankSum=-0.831;SOR=2.066;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10171053;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|2/4|c.740+11C>A||||||,T|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding|2/4|c.293+11C>A||||||,T|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding|2/4|c.236+11C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2624;p3_1000G_AF=0.523962;p3_1000G_AFR_AF=0.7685;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=17195;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241830944;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2896,1048;ESP6500_AA_GTC=1097,702,173;ESP6500_CDS_SIZES=NM_024861.2:840,NM_001085437.1:1344;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=41;ESP6500_EA_AC=4111,4127;ESP6500_EA_GTC=1069,1973,1077;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024861.2:intron,NM_001085437.1:intron;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240891527;ESP6500_GTC=2166,2675,1250;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_024861.2:c.236+11C>A,NM_001085437.1:c.740+11C>A;ESP6500_MAF=49.9029,26.572,42.4807;ESP6500_TAC=7007,5175	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,27:41:99:0|1:240891527_G_T:1032,0,629
chr2	240891552	rs10171067	G	A	1160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.464;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=1.162;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.76;ReadPosRankSum=-1.459;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10171067;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|2/5|c.726C>T|p.Ser242Ser|885/2525|726/1344|242/447||,A|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding|2/5|c.279C>T|p.Ser93Ser|378/2018|279/897|93/298||,A|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding|2/5|c.222C>T|p.Ser74Ser|321/1961|222/840|74/279||;p3_1000G_AA=G|||;p3_1000G_AC=2640;p3_1000G_AF=0.527157;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=17745;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241830969;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2960,1022;ESP6500_AA_GTC=1120,720,151;ESP6500_CDS_SIZES=NM_024861.2:840,NM_001085437.1:1344;ESP6500_CG=-2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=51;ESP6500_EA_AC=4114,4174;ESP6500_EA_GTC=1043,2028,1073;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024861.2:coding-synonymous,NM_001085437.1:coding-synonymous;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240891552;ESP6500_GTC=2163,2748,1224;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024861.2:c.222C>T,NM_001085437.1:c.726C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024861.2:p.(S74),NM_001085437.1:p.(S242);ESP6500_MAF=49.638,25.6655,42.3472;ESP6500_TAC=7074,5196	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,32:51:99:0|1:240891527_G_T:1189,0,765
chr2	240891588	rs10195453	C	T	1019.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.196;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=-0.96;SOR=0.821;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10195453;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|2/5|c.690G>A|p.Arg230Arg|849/2525|690/1344|230/447||,T|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding|2/5|c.243G>A|p.Arg81Arg|342/2018|243/897|81/298||,T|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding|2/5|c.186G>A|p.Arg62Arg|285/1961|186/840|62/279||;p3_1000G_AA=C|||;p3_1000G_AC=2637;p3_1000G_AF=0.526558;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=18639;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241831005;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2972,1046;ESP6500_AA_GTC=1107,758,144;ESP6500_CDS_SIZES=NM_024861.2:840,NM_001085437.1:1344;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=55;ESP6500_EA_AC=4121,4201;ESP6500_EA_GTC=1036,2049,1076;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024861.2:coding-synonymous,NM_001085437.1:coding-synonymous;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240891588;ESP6500_GTC=2143,2807,1220;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024861.2:c.186G>A,NM_001085437.1:c.690G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024861.2:p.(R62),NM_001085437.1:p.(R230);ESP6500_MAF=49.5193,26.0329,42.5203;ESP6500_TAC=7093,5247	GT:AD:DP:GQ:PL	0/1:23,38:61:99:1048,0,577
chr2	240891847	rs6737320	G	A	515.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.335;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.06;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6737320;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|1/4|c.515-84C>T||||||,A|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding|1/4|c.67+26C>T||||||,A|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding|1/4|c.10+83C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2639;p3_1000G_AF=0.526957;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=17891;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.5179;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241831264;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1006,378;ESP6500_AA_GTC=374,258,60;ESP6500_CDS_SIZES=NM_024861.2:840,NM_001085437.1:1344;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=36;ESP6500_EA_AC=1578,1604;ESP6500_EA_GTC=400,778,413;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024861.2:intron,NM_001085437.1:intron;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240891847;ESP6500_GTC=774,1036,473;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024861.2:c.10+83C>T,NM_001085437.1:c.515-84C>T;ESP6500_MAF=49.5915,27.3121,43.4078;ESP6500_TAC=2584,1982	GT:AD:DP:GQ:PL	0/1:28,20:48:99:544,0,864
chr2	240891879	rs6709469	C	G	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.514;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.71;SOR=0.586;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6709469;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding|1/5|c.61G>C|p.Ala21Pro|160/2018|61/897|21/298||,G|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|1/4|c.515-116G>C||||||,G|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding|1/4|c.10+51G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2639;p3_1000G_AF=0.526957;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=17067;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241831296;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3073,1131;ESP6500_AA_GTC=1156,761,185;ESP6500_CDS_SIZES=NM_024861.2:840,NM_001085437.1:1344;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=22;ESP6500_EA_AC=4122,4270;ESP6500_EA_GTC=1056,2010,1130;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024861.2:intron,NM_001085437.1:intron;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240891879;ESP6500_GTC=2212,2771,1315;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_024861.2:c.10+51G>C,NM_001085437.1:c.515-116G>C;ESP6500_MAF=49.1182,26.9029,42.8787;ESP6500_TAC=7195,5401	GT:AD:DP:GQ:PL	0/1:22,17:39:99:450,0,669
chr2	240895353	rs4293565	A	G	342.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.22;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.473;SOR=0.089;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4293565;dbSNPBuildID=111;ANN=G|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding||c.-3414T>C|||||3315|,G|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding||c.-3414T>C|||||3315|,G|intron_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|1/4|c.514+131T>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=3700;p3_1000G_AF=0.738818;p3_1000G_AFR_AF=0.9629;p3_1000G_AMR_AF=0.6052;p3_1000G_AN=5008;p3_1000G_DP=25636;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.7217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241834770;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:371,0,390
chr2	240895527	rs4468809	T	C	902.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=1.911;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.333;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4468809;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|1/5|c.471A>G|p.Val157Val|630/2525|471/1344|157/447||,C|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding||c.-3588A>G|||||3489|,C|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding||c.-3588A>G|||||3489|;p3_1000G_AA=C|||;p3_1000G_AC=2640;p3_1000G_AF=0.527157;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=23599;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241834944;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3201,1197;ESP6500_AA_GTC=1185,831,183;ESP6500_CDS_SIZES=NM_001085437.1:1344;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=23;ESP6500_EA_AC=4222,4364;ESP6500_EA_GTC=1072,2078,1143;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085437.1:coding-synonymous;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240895527;ESP6500_GTC=2257,2909,1326;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001085437.1:c.471A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001085437.1:p.(V157);ESP6500_MAF=49.1731,27.2169,42.8296;ESP6500_TAC=7423,5561	GT:AD:DP:GQ:PL	0/1:40,35:75:99:931,0,1057
chr2	240895962	rs12105122	G	A	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.576;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=4.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.059;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12105122;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|1/5|c.36C>T|p.Ala12Ala|195/2525|36/1344|12/447||,A|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding||c.-4023C>T|||||3924|,A|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding||c.-4023C>T|||||3924|;p3_1000G_AA=G|||;p3_1000G_AC=2624;p3_1000G_AF=0.523962;p3_1000G_AFR_AF=0.7685;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=17050;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241835379;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2920,1058;ESP6500_AA_GTC=1120,680,189;ESP6500_CDS_SIZES=NM_001085437.1:1344;ESP6500_CG=-10.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=6;ESP6500_EA_AC=4133,4053;ESP6500_EA_GTC=1141,1851,1101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085437.1:coding-synonymous;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240895962;ESP6500_GTC=2261,2531,1290;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001085437.1:c.36C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001085437.1:p.(A12);ESP6500_MAF=49.5114,26.5963,42.0174;ESP6500_TAC=7053,5111	GT:AD:DP:GQ:PL	0/1:8,9:17:99:257,0,257
chr2	240896004	rs13426919	A	G	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0.711;SOR=1.23;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13426919;dbSNPBuildID=121;ANN=G|5_prime_UTR_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|1/5|c.-7T>C|||||7|,G|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding||c.-4065T>C|||||3966|,G|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding||c.-4065T>C|||||3966|;p3_1000G_AA=A|||;p3_1000G_AC=1782;p3_1000G_AF=0.355831;p3_1000G_AFR_AF=0.4864;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=16274;p3_1000G_EAS_AF=0.2639;p3_1000G_EUR_AF=0.4215;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241835421;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1517,2265;ESP6500_AA_GTC=373,771,747;ESP6500_CDS_SIZES=NM_001085437.1:1344;ESP6500_CG=-5.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=4;ESP6500_EA_AC=2763,4959;ESP6500_EA_GTC=627,1509,1725;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085437.1:utr-5;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240896004;ESP6500_GTC=1000,2280,2472;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001085437.1:c.-7T>C;ESP6500_MAF=35.7809,40.1111,37.2045;ESP6500_TAC=4280,7224	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,8:16:99:0|1:240896004_A_G:292,0,402
chr2	240896015	rs10933514	G	A	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.313;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.05;ReadPosRankSum=0.344;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10933514;dbSNPBuildID=120;ANN=A|5_prime_UTR_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001085437.2|protein_coding|1/5|c.-18C>T|||||18|,A|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_001282921.1|protein_coding||c.-4076C>T|||||3977|,A|upstream_gene_variant|MODIFIER|C2orf54|C2orf54|transcript|NM_024861.3|protein_coding||c.-4076C>T|||||3977|;p3_1000G_AA=G|||;p3_1000G_AC=2641;p3_1000G_AF=0.527356;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.3487;p3_1000G_AN=5008;p3_1000G_DP=15527;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.5179;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241835432;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2806,914;ESP6500_AA_GTC=1103,600,157;ESP6500_CDS_SIZES=NM_001085437.1:1344;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=3;ESP6500_EA_AC=4024,3558;ESP6500_EA_GTC=1208,1608,975;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001085437.1:utr-5;ESP6500_GL=C2orf54;ESP6500_GRCh38_POSITION=2:240896015;ESP6500_GTC=2311,2208,1132;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001085437.1:c.-18C>T;ESP6500_MAF=46.9269,24.5699,39.5682;ESP6500_TAC=6830,4472	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,7:14:99:0|1:240896004_A_G:295,0,375
chr2	240906483	rs4076341	A	C	512.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.54;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.39;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4076341;dbSNPBuildID=108;ANN=C|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240906483A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1819;p3_1000G_AF=0.363219;p3_1000G_AFR_AF=0.236;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=19109;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241845900;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,18:40:99:541,0,614
chr2	240906723	rs4076342	C	T	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.179;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0.892;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4076342;dbSNPBuildID=108;ANN=T|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240906723C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1819;p3_1000G_AF=0.363219;p3_1000G_AFR_AF=0.236;p3_1000G_AMR_AF=0.464;p3_1000G_AN=5008;p3_1000G_DP=19374;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.4811;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241846140;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.32;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,9:25:99:242,0,480
chr2	240920032	rs116904206	C	T	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.285;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.07;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs116904206;dbSNPBuildID=132;ANN=T|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240920032C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=71;p3_1000G_AF=0.0141773;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16631;p3_1000G_EAS_AF=0.0694;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241859449;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,15:23:99:357,0,187
chr2	240922487	rs4514870	G	C	270.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.509;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.56;ReadPosRankSum=0.767;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4514870;dbSNPBuildID=111;ANN=C|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240922487G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1955;p3_1000G_AF=0.390375;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=16769;p3_1000G_EAS_AF=0.5089;p3_1000G_EUR_AF=0.4622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241861904;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4315;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,10:12:49:299,0,49
chr2	240925516	rs368597716	G	A	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.842;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs368597716;dbSNPBuildID=138;ANN=A|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240925516G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16324;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241864933;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:71:76,0,71
chr2	240925739	rs4675847	T	C	404.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.151;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-1.553;SOR=0.724;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675847;dbSNPBuildID=111;ANN=C|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240925739T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3955;p3_1000G_AF=0.789736;p3_1000G_AFR_AF=0.941;p3_1000G_AMR_AF=0.7478;p3_1000G_AN=5008;p3_1000G_DP=17693;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.6769;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241865156;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6288;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,19:42:99:433,0,566
chr2	240932539	rs12472087	G	T	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.164;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.734;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12472087;dbSNPBuildID=120;ANN=T|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240932539G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1923;p3_1000G_AF=0.383986;p3_1000G_AFR_AF=0.1846;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=17254;p3_1000G_EAS_AF=0.495;p3_1000G_EUR_AF=0.4642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241871956;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4202;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:347,0,363
chr2	240933180	rs4441463	A	G	40.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.803;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.08;ReadPosRankSum=-0.623;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4441463;dbSNPBuildID=111;ANN=G|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240933180A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=3400;p3_1000G_AF=0.678914;p3_1000G_AFR_AF=0.8018;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=15969;p3_1000G_EAS_AF=0.6607;p3_1000G_EUR_AF=0.664;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241872597;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:69:69,0,170
chr2	240935142	rs12618707	T	C	337.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.3;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=0.486;SOR=1.276;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12618707;dbSNPBuildID=120;ANN=C|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240935142T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2347;p3_1000G_AF=0.46865;p3_1000G_AFR_AF=0.4932;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=17515;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241874559;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:366,0,274
chr2	240935746	rs10200156	G	T	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.946;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.316;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10200156;dbSNPBuildID=119;ANN=T|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240935746G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1559;p3_1000G_AF=0.311302;p3_1000G_AFR_AF=0.1611;p3_1000G_AMR_AF=0.3559;p3_1000G_AN=5008;p3_1000G_DP=16573;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241875163;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4294;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,9:19:99:174,0,316
chr2	240949754	rs12479396	G	A	104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.366;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.566;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12479396;dbSNPBuildID=120;ANN=A|downstream_gene_variant|MODIFIER|LOC200772|LOC200772|transcript|NR_033841.1|pseudogene||n.*4865C>T|||||4865|,A|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240949754G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2575;p3_1000G_AF=0.514177;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.585;p3_1000G_AN=5008;p3_1000G_DP=16352;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241889171;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,4:8:99:133,0,106
chr2	240950520	rs4077132	A	G	617.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.247;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.274;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.04;SOR=0.488;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4077132;dbSNPBuildID=108;ANN=G|downstream_gene_variant|MODIFIER|LOC200772|LOC200772|transcript|NR_033841.1|pseudogene||n.*4099T>C|||||4099|,G|intergenic_region|MODIFIER|C2orf54-LOC200772|C2orf54-LOC200772|intergenic_region|C2orf54-LOC200772|||n.240950520A>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=3423;p3_1000G_AF=0.683506;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=19684;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.6491;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241889937;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,25:40:99:646,0,385
chr2	240959407	rs10169006	A	G	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.151;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.764;SOR=0.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10169006;dbSNPBuildID=119;ANN=G|non_coding_transcript_exon_variant|MODIFIER|LOC200772|LOC200772|transcript|NR_033841.1|pseudogene|4/9|n.808T>C||||||;p3_1000G_AA=N|||;p3_1000G_AC=3423;p3_1000G_AF=0.683506;p3_1000G_AFR_AF=0.8442;p3_1000G_AMR_AF=0.6254;p3_1000G_AN=5008;p3_1000G_DP=17497;p3_1000G_EAS_AF=0.6597;p3_1000G_EUR_AF=0.6481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241898824;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:26,22:48:99:515,0,660
chr2	240959530	rs10179839	G	T	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.431;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10179839;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|LOC200772|LOC200772|transcript|NR_033841.1|pseudogene|3/8|n.797-112C>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=2579;p3_1000G_AF=0.514976;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.5865;p3_1000G_AN=5008;p3_1000G_DP=17729;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.6412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241898947;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:126,0,228
chr2	240964584	rs11688859	G	C	230.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.946;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=7.06;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.367;SOR=0.407;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11688859;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|LOC200772|LOC200772|transcript|NR_033841.1|pseudogene|1/8|n.126-408C>G||||||;p3_1000G_AA=N|||;p3_1000G_AC=3373;p3_1000G_AF=0.673522;p3_1000G_AFR_AF=0.7958;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=16671;p3_1000G_EAS_AF=0.6587;p3_1000G_EUR_AF=0.659;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241904001;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:259,0,241
chr2	240965364	rs12467536	C	T	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.388;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.463;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12467536;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|LOC200772|LOC200772|transcript|NR_033841.1|pseudogene|1/8|n.126-1188G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1170;p3_1000G_AF=0.233626;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.1585;p3_1000G_AN=5008;p3_1000G_DP=18370;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.2942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241904781;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:265,0,279
chr2	240966362	rs12466789	A	G	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.452;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=0.254;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12466789;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|LOC200772|LOC200772|transcript|NR_033841.1|pseudogene|1/8|n.125+965T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2820;p3_1000G_AF=0.563099;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=13502;p3_1000G_EAS_AF=0.506;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241905779;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,11:31:99:264,0,497
chr2	240983013	rs4577273	T	C	214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.328;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.14;ReadPosRankSum=-0.448;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4577273;dbSNPBuildID=119;ANN=C|intergenic_region|MODIFIER|LOC200772-SNED1|LOC200772-SNED1|intergenic_region|LOC200772-SNED1|||n.240983013T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1652;p3_1000G_AF=0.329872;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=20262;p3_1000G_EAS_AF=0.376;p3_1000G_EUR_AF=0.1471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241922430;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,12:35:99:243,0,593
chr2	240989811	rs10200024	A	G	822.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=0.997;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10200024;dbSNPBuildID=119;ANN=G|intergenic_region|MODIFIER|LOC200772-SNED1|LOC200772-SNED1|intergenic_region|LOC200772-SNED1|||n.240989811A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4049;p3_1000G_AF=0.808506;p3_1000G_AFR_AF=0.8979;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=17773;p3_1000G_EAS_AF=0.9296;p3_1000G_EUR_AF=0.6501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241929228;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,28:28:84:1|1:240989809_G_T:851,84,0
chr2	240992982	rs61308140	C	G	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.009;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.293;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61308140;dbSNPBuildID=129;ANN=G|intergenic_region|MODIFIER|LOC200772-SNED1|LOC200772-SNED1|intergenic_region|LOC200772-SNED1|||n.240992982C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=777;p3_1000G_AF=0.155152;p3_1000G_AFR_AF=0.1301;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=17331;p3_1000G_EAS_AF=0.2778;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241932399;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,6:14:99:144,0,218
chr2	241033961	rs376331057	C	T	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.101;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-0.261;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs376331057;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|3/31|c.642+86C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=27;p3_1000G_AF=0.00539137;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17248;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241973378;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:318,0,291
chr2	241048975	rs16843211	T	C	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.13;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16843211;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|10/31|c.1505-47T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=515;p3_1000G_AF=0.102835;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=18799;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241988392;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=18,3886;ESP6500_AA_GTC=0,18,1934;ESP6500_CDS_SIZES=NM_001080437.1:4242;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=22;ESP6500_EA_AC=8,8304;ESP6500_EA_GTC=0,8,4148;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080437.1:intron;ESP6500_GL=SNED1;ESP6500_GRCh38_POSITION=2:241048975;ESP6500_GTC=0,26,6082;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080437.1:c.1505-47T>C;ESP6500_MAF=0.0962,0.4611,0.2128;ESP6500_TAC=26,12190	GT:AD:DP:GQ:PL	0/1:18,13:31:99:354,0,479
chr2	241052486	rs28529274	A	G	554.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.65;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=3.784;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-1.178;SOR=1.751;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28529274;dbSNPBuildID=125;ANN=G|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|15/31|c.2083+18A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=843;p3_1000G_AF=0.168331;p3_1000G_AFR_AF=0.2489;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=16817;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.0517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=241991903;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=816,3316;ESP6500_AA_GTC=93,630,1343;ESP6500_CDS_SIZES=NM_001080437.1:4242;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=37;ESP6500_EA_AC=295,8091;ESP6500_EA_GTC=5,285,3903;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080437.1:intron;ESP6500_GL=SNED1;ESP6500_GRCh38_POSITION=2:241052486;ESP6500_GTC=98,915,5246;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080437.1:c.2083+18A>G;ESP6500_MAF=3.5178,19.7483,8.8752;ESP6500_TAC=1111,11407	GT:AD:DP:GQ:PL	0/1:15,18:33:99:583,0,336
chr2	241064141	rs34771867	T	C	231.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.886;SOR=0.343;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34771867;dbSNPBuildID=126;ANN=C|sequence_feature|LOW|SNED1|SNED1|domain:EGF-like_14|NM_001080437.1|protein_coding|19/31|c.2599+16T>C||||||,C|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|19/31|c.2599+16T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3582;p3_1000G_AF=0.715256;p3_1000G_AFR_AF=0.8419;p3_1000G_AMR_AF=0.7003;p3_1000G_AN=5008;p3_1000G_DP=6383;p3_1000G_EAS_AF=0.7837;p3_1000G_EUR_AF=0.5209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242003558;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2780,622;ESP6500_AA_GTC=1178,424,99;ESP6500_CDS_SIZES=NM_001080437.1:4242;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=8;ESP6500_EA_AC=4085,3567;ESP6500_EA_GTC=1218,1649,959;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080437.1:intron;ESP6500_GL=SNED1;ESP6500_GRCh38_POSITION=2:241064141;ESP6500_GTC=2396,2073,1058;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080437.1:c.2599+16T>C;ESP6500_MAF=46.6153,18.2834,37.8958;ESP6500_TAC=6865,4189	GT:AD:DP:GQ:PL	0/1:5,11:16:99:260,0,124
chr2	241064782	rs2286319	G	C	242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.31;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=1.19;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2286319;dbSNPBuildID=100;ANN=C|sequence_feature|LOW|SNED1|SNED1|domain:EGF-like_14|NM_001080437.1|protein_coding|19/31|c.2600-62G>C||||||,C|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|19/31|c.2600-62G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3271;p3_1000G_AF=0.653155;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=17107;p3_1000G_EAS_AF=0.6558;p3_1000G_EUR_AF=0.4682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242004199;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5961;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,8:15:99:271,0,166
chr2	241069845	rs10171936	C	G	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.732;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.276;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10171936;dbSNPBuildID=119;ANN=G|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene||n.*4549G>C|||||4549|,G|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|23/31|c.3308-75C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1030;p3_1000G_AF=0.205671;p3_1000G_AFR_AF=0.4289;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=17032;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242009260;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,9:17:99:257,0,258
chr2	241070234	rs10174683	C	G	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.38;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=4.091;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.38;SOR=1.885;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10174683;dbSNPBuildID=119;ANN=G|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene||n.*4160G>C|||||4160|,G|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|24/31|c.3589+33C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1020;p3_1000G_AF=0.203674;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=16960;p3_1000G_EAS_AF=0.2401;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242009649;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1136,2854;ESP6500_AA_GTC=166,804,1025;ESP6500_CDS_SIZES=NM_001080437.1:4242;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=11;ESP6500_EA_AC=42,8224;ESP6500_EA_GTC=1,40,4092;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080437.1:intron;ESP6500_GL=SNED1;ESP6500_GRCh38_POSITION=2:241070234;ESP6500_GTC=167,844,5117;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080437.1:c.3589+33C>G;ESP6500_MAF=0.5081,28.4712,9.6116;ESP6500_TAC=1178,11078	GT:AD:DP:GQ:PL	0/1:15,14:29:99:428,0,444
chr2	241071736	rs6760731	A	G	506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.34;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6760731;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene||n.*2658T>C|||||2658|,G|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|25/31|c.3734+16A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=5596;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242011151;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3614,0;ESP6500_AA_GTC=1807,0,0;ESP6500_CDS_SIZES=NM_001080437.1:4242;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=9;ESP6500_EA_AC=8027,5;ESP6500_EA_GTC=4011,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080437.1:intron;ESP6500_GL=SNED1;ESP6500_GRCh38_POSITION=2:241071736;ESP6500_GTC=5818,5,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080437.1:c.3734+16A>G;ESP6500_MAF=0.0623,0.0,0.0429;ESP6500_TAC=11641,5	GT:AD:DP:GQ:PL	1/1:0,20:20:57:535,57,0
chr2	241071780	rs75917496	C	T	1658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs75917496;dbSNPBuildID=131;ANN=T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene||n.*2614G>A|||||2614|,T|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|25/31|c.3735-16C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=373;p3_1000G_AF=0.0744808;p3_1000G_AFR_AF=0.0371;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=8258;p3_1000G_EAS_AF=0.1796;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242011195;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=104,3936;ESP6500_AA_GTC=3,98,1919;ESP6500_CDS_SIZES=NM_001080437.1:4242;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=32;ESP6500_EA_AC=7,8347;ESP6500_EA_GTC=0,7,4170;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080437.1:intron;ESP6500_GL=SNED1;ESP6500_GRCh38_POSITION=2:241071780;ESP6500_GTC=3,105,6089;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080437.1:c.3735-16C>T;ESP6500_MAF=0.0838,2.5743,0.8956;ESP6500_TAC=111,12283	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1687,156,0
chr2	241071915	rs6746124	C	A	1846.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6746124;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene||n.*2479G>T|||||2479|,A|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|26/31|c.3817+37C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.6498;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=9774;p3_1000G_EAS_AF=0.5079;p3_1000G_EUR_AF=0.4453;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242011330;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2638,1550;ESP6500_AA_GTC=867,904,323;ESP6500_CDS_SIZES=NM_001080437.1:4242;ESP6500_CG=-2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=23;ESP6500_EA_AC=3965,4407;ESP6500_EA_GTC=976,2013,1197;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080437.1:intron;ESP6500_GL=SNED1;ESP6500_GRCh38_POSITION=2:241071915;ESP6500_GTC=1843,2917,1520;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001080437.1:c.3817+37C>A;ESP6500_MAF=47.3602,37.0105,47.4283;ESP6500_TAC=6603,5957	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1875,191,0
chr2	241081585	rs140631844	A	ATCAGG	630.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.804;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.53;ReadPosRankSum=0.692;SOR=0.128;INS;HET;VARTYPE=INS;dbSNP138_ID=rs140631844;dbSNPBuildID=134;ANN=ATCAGG|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|27/31|c.3917-88_3917-84dupGGTCA||||||INFO_REALIGN_3_PRIME,ATCAGG|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene|6/6|n.3170-5908_3170-5904dupCCTGA||||||;p3_1000G_AC=1436;p3_1000G_AF=0.286741;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=19376;p3_1000G_EAS_AF=0.4038;p3_1000G_EUR_AF=0.1004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242021000;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1247;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,15:28:99:668,0,780
chr2	241082327	rs2108485	G	T	1215.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.359;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=5.773;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.386;SOR=1.089;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2108485;dbSNPBuildID=96;ANN=T|missense_variant|MODERATE|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|29/32|c.4084G>T|p.Ala1362Ser|4084/6834|4084/4242|1362/1413||,T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028049.1|pseudogene||n.*4767C>A|||||4767|,T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028050.1|pseudogene||n.*4767C>A|||||4767|,T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028051.1|pseudogene||n.*4767C>A|||||4767|,T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138464.1|pseudogene||n.*4767C>A|||||4767|,T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138465.1|pseudogene||n.*4767C>A|||||4767|,T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138466.1|pseudogene||n.*4767C>A|||||4767|,T|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene|6/6|n.3170-6645C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2132;p3_1000G_AF=0.425719;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.3545;p3_1000G_AN=5008;p3_1000G_DP=18972;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.168;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242021742;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1687;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2626,1462;ESP6500_AA_GTC=858,910,276;ESP6500_CDS_SIZES=NM_001080437.1:4242;ESP6500_CG=3.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=215;ESP6500_EA_AC=1345,7043;ESP6500_EA_GTC=100,1145,2949;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080437.1:missense;ESP6500_GL=SNED1;ESP6500_GRCh38_POSITION=2:241082327;ESP6500_GS=99;ESP6500_GTC=958,2055,3225;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080437.1:c.4084G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001080437.1:p.(A1362S);ESP6500_MAF=16.0348,35.7632,31.8291;ESP6500_PH=benign:0.001;ESP6500_TAC=3971,8505	GT:AD:DP:GQ:PL	0/1:35,48:83:99:1244,0,836
chr2	241088511	rs2067987	T	A	25.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=1.07;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2067987;dbSNPBuildID=96;ANN=A|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_001330180.1|protein_coding||c.*837A>T|||||604|,A|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|31/31|c.*1+109T>A||||||,A|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene|6/6|n.3169+677A>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028049.1|pseudogene|7/7|n.3149A>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028050.1|pseudogene|5/5|n.1341A>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028051.1|pseudogene|4/4|n.1156A>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138464.1|pseudogene|5/5|n.1684A>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138465.1|pseudogene|7/7|n.3195A>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138466.1|pseudogene|7/7|n.3682A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1123;p3_1000G_AF=0.224241;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=16289;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.0656;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242027926;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,137
chr2	241089347	rs2286322	T	C	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.663;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.663;SOR=0.612;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2286322;dbSNPBuildID=100;ANN=C|3_prime_UTR_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_001330180.1|protein_coding|5/5|c.*1A>G|||||1|,C|intron_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding|31/31|c.*1+945T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene|6/7|n.3010A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028049.1|pseudogene|7/7|n.2313A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028050.1|pseudogene|5/5|n.505A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028051.1|pseudogene|4/4|n.320A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138464.1|pseudogene|5/5|n.848A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138465.1|pseudogene|7/7|n.2359A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138466.1|pseudogene|7/7|n.2846A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=373;p3_1000G_AF=0.0744808;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=21639;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242028762;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0542;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,14:24:99:313,0,232
chr2	241094545	rs79500020	C	T	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.101;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.71;ReadPosRankSum=0.36;SOR=2.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79500020;dbSNPBuildID=131;ANN=T|downstream_gene_variant|MODIFIER|SNED1|SNED1|transcript|NM_001080437.1|protein_coding||c.*6144C>T|||||317|,T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_182501.3|protein_coding||c.*1453G>A|||||1021|,T|downstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_001330179.1|protein_coding||c.*1453G>A|||||1021|,T|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028049.1|pseudogene|4/6|n.2074-113G>A||||||,T|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028050.1|pseudogene|2/4|n.266-113G>A||||||,T|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028051.1|pseudogene|1/3|n.81-113G>A||||||,T|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138464.1|pseudogene|3/4|n.764+2698G>A||||||,T|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138465.1|pseudogene|4/6|n.2120-113G>A||||||,T|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138466.1|pseudogene|4/6|n.2606+52G>A||||||,T|intron_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_001330180.1|protein_coding|2/4|c.521-113G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene|4/7|n.2658G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=373;p3_1000G_AF=0.0744808;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=18336;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242033960;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0542;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:113,0,341
chr2	241106736	rs3732227	G	A	250.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.448;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-1.352;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732227;dbSNPBuildID=107;ANN=A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_182501.3|protein_coding||c.-4463C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene||n.-4404C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028049.1|pseudogene||n.-4404C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028050.1|pseudogene||n.-4404C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028051.1|pseudogene||n.-4404C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138464.1|pseudogene||n.-4404C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138465.1|pseudogene||n.-4404C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138466.1|pseudogene||n.-4404C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_001330180.1|protein_coding||c.-4463C>T|||||4404|,A|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_001330179.1|protein_coding||c.-9353C>T|||||4404|,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|17/17|c.3836-13C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|17/17|c.3710-13C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|17/17|c.3815-13C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|18/18|c.3815-13C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1049;p3_1000G_AF=0.209465;p3_1000G_AFR_AF=0.4871;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=19952;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.0099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242046151;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0542;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1754,2652;ESP6500_AA_AGE=514.9+/-368.7;ESP6500_AA_GTC=354,1046,803;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=111,8489;ESP6500_EA_AGE=55.6+/-116.7;ESP6500_EA_GTC=1,109,4190;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:intron,NM_001252122.1:intron,NM_001252120.1:intron,NM_001252119.1:intron;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241106736;ESP6500_GTC=355,1155,4993;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.3815-13C>T,NM_001252122.1:c.3710-13C>T,NM_001252120.1:c.3815-13C>T,NM_001252119.1:c.3836-13C>T;ESP6500_MAF=1.2907,39.8094,14.3395;ESP6500_TAC=1865,11141	GT:AD:DP:GQ:PL	0/1:6,10:16:99:279,0,172
chr2	241107322	rs2240540	T	C	462.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.77;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=1.445;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.104;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2240540;dbSNPBuildID=98;ANN=C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_182501.3|protein_coding||c.-5049A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138463.1|pseudogene||n.-4990A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028049.1|pseudogene||n.-4990A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028050.1|pseudogene||n.-4990A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_028051.1|pseudogene||n.-4990A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138464.1|pseudogene||n.-4990A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138465.1|pseudogene||n.-4990A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NR_138466.1|pseudogene||n.-4990A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_001330180.1|protein_coding||c.-5049A>G|||||4990|,C|upstream_gene_variant|MODIFIER|MTERF4|MTERF4|transcript|NM_001330179.1|protein_coding||c.-9939A>G|||||4990|,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|17/17|c.3835+31A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|17/17|c.3709+31A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|17/17|c.3814+31A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|18/18|c.3814+31A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1617;p3_1000G_AF=0.322883;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=20171;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242046737;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2155,2251;ESP6500_AA_AGE=590.6+/-387.4;ESP6500_AA_GTC=556,1043,604;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=110;ESP6500_EA_AC=835,7765;ESP6500_EA_AGE=781.2+/-407.6;ESP6500_EA_GTC=38,759,3503;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:intron,NM_001252122.1:intron,NM_001252120.1:intron,NM_001252119.1:intron;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241107322;ESP6500_GTC=594,1802,4107;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.3814+31A>G,NM_001252122.1:c.3709+31A>G,NM_001252120.1:c.3814+31A>G,NM_001252119.1:c.3835+31A>G;ESP6500_MAF=9.7093,48.9106,22.9894;ESP6500_TAC=2990,10016	GT:AD:DP:GQ:PL	0/1:19,17:36:99:491,0,527
chr2	241107370	rs1131293	A	C	717.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.761;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.03;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.07;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1131293;dbSNPBuildID=86;ANN=C|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:E_1096-E_1266:NM_015148.3|protein_coding|17/18|c.3797T>G||||||,C|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:E_1096-E_1266:NM_001252120.1|protein_coding|18/19|c.3797T>G||||||,C|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252119.1|protein_coding|17/18|c.3818T>G|p.Phe1273Cys|3951/4593|3818/3993|1273/1330||,C|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252122.1|protein_coding|17/18|c.3692T>G|p.Phe1231Cys|3825/4467|3692/3867|1231/1288||,C|missense_variant|MODERATE|PASK|PASK|transcript|NM_015148.3|protein_coding|17/18|c.3797T>G|p.Phe1266Cys|3930/4572|3797/3972|1266/1323||,C|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252120.1|protein_coding|18/19|c.3797T>G|p.Phe1266Cys|4083/4725|3797/3972|1266/1323||;p3_1000G_AA=C|||;p3_1000G_AC=1617;p3_1000G_AF=0.322883;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=20031;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242046785;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2171,2235;ESP6500_AA_AGE=592.5+/-387.8;ESP6500_AA_GTC=557,1057,589;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=159;ESP6500_EA_AC=836,7764;ESP6500_EA_AGE=781.4+/-407.6;ESP6500_EA_GTC=38,760,3502;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015148.3:missense,NM_001252122.1:missense,NM_001252120.1:missense,NM_001252119.1:missense;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241107370;ESP6500_GS=205,205,205,205;ESP6500_GTC=595,1817,4091;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.3797T>G,NM_001252122.1:c.3692T>G,NM_001252120.1:c.3797T>G,NM_001252119.1:c.3818T>G;ESP6500_HGVS_PROTEIN_VAR=NM_015148.3:p.(F1266C),NM_001252122.1:p.(F1231C),NM_001252120.1:p.(F1266C),NM_001252119.1:p.(F1273C);ESP6500_MAF=9.7209,49.2737,23.1201;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3007,9999	GT:AD:DP:GQ:PL	0/1:34,27:61:99:746,0,973
chr2	241107578	rs34577714;rs397868757	AC	A	92.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.76;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=-0.571;SOR=0.77;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34577714;dbSNPBuildID=134,138;ANN=A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|16/17|c.3689-80delG||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|16/17|c.3563-80delG||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|16/17|c.3668-80delG||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|17/18|c.3668-80delG||||||;p3_1000G_AA=?|CCCCCCC|CCCCCC|unsure;p3_1000G_AC=1616;p3_1000G_AF=0.322684;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=21128;p3_1000G_EAS_AF=0.4276;p3_1000G_EUR_AF=0.1064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242046993;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,6:19:99:130,0,347
chr2	241108335	rs6708265	A	G	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.665;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.828;SOR=0.418;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6708265;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|15/17|c.3555-35T>C||||||,G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|15/17|c.3429-35T>C||||||,G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|15/17|c.3534-35T>C||||||,G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|16/18|c.3534-35T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2098;p3_1000G_AF=0.41893;p3_1000G_AFR_AF=0.7239;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=17754;p3_1000G_EAS_AF=0.5526;p3_1000G_EUR_AF=0.168;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242047750;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2815,1591;ESP6500_AA_AGE=489.9+/-361.6;ESP6500_AA_GTC=917,981,305;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-6.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=43;ESP6500_EA_AC=1420,7180;ESP6500_EA_AGE=750.5+/-407.4;ESP6500_EA_GTC=118,1184,2998;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:intron,NM_001252122.1:intron,NM_001252120.1:intron,NM_001252119.1:intron;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241108335;ESP6500_GTC=1035,2165,3303;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.3534-35T>C,NM_001252122.1:c.3429-35T>C,NM_001252120.1:c.3534-35T>C,NM_001252119.1:c.3555-35T>C;ESP6500_MAF=16.5116,36.1099,32.5619;ESP6500_TAC=4235,8771	GT:AD:DP:GQ:PL	0/1:12,12:24:99:327,0,314
chr2	241112362	rs2074824	G	A	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=-1.864;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2074824;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252119.1|protein_coding|15/18|c.3432C>T|p.Ala1144Ala|3565/4593|3432/3993|1144/1330||,A|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252122.1|protein_coding|15/18|c.3306C>T|p.Ala1102Ala|3439/4467|3306/3867|1102/1288||,A|synonymous_variant|LOW|PASK|PASK|transcript|NM_015148.3|protein_coding|15/18|c.3411C>T|p.Ala1137Ala|3544/4572|3411/3972|1137/1323||,A|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252120.1|protein_coding|16/19|c.3411C>T|p.Ala1137Ala|3697/4725|3411/3972|1137/1323||,A|downstream_gene_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding||c.*2582C>T|||||1273|;p3_1000G_AA=G|||;p3_1000G_AC=1617;p3_1000G_AF=0.322883;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=17008;p3_1000G_EAS_AF=0.4286;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242051777;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1339;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2172,2234;ESP6500_AA_AGE=584.5+/-386.0;ESP6500_AA_GTC=558,1056,589;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-11.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=75;ESP6500_EA_AC=837,7763;ESP6500_EA_AGE=192.0+/-238.1;ESP6500_EA_GTC=38,761,3501;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:coding-synonymous,NM_001252122.1:coding-synonymous,NM_001252120.1:coding-synonymous,NM_001252119.1:coding-synonymous;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241112362;ESP6500_GTC=596,1817,4090;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.3411C>T,NM_001252122.1:c.3306C>T,NM_001252120.1:c.3411C>T,NM_001252119.1:c.3432C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015148.3:p.(A1137),NM_001252122.1:p.(A1102),NM_001252120.1:p.(A1137),NM_001252119.1:p.(A1144);ESP6500_MAF=9.7326,49.2964,23.1355;ESP6500_TAC=3009,9997	GT:AD:DP:GQ:PL	0/1:16,9:25:99:214,0,353
chr2	241114988	rs3815305	G	A	839.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=9.185;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.2;SOR=1.294;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3815305;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252124.1|protein_coding|14/14|c.3388C>T|p.Arg1130Trp|3521/4874|3388/3432|1130/1143||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|14/17|c.3354+34C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|14/17|c.3228+55C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|14/17|c.3333+55C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|15/18|c.3333+55C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1220;p3_1000G_AF=0.24361;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=18665;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.0974;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242054403;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,31:59:99:0|1:241114987_C_A:868,0,659
chr2	241122747	rs2302050	C	T	1761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=1.262;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2302050;dbSNPBuildID=100;ANN=T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:A_996-A_1019:NM_015148.3|protein_coding|12/18|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:A_998-A_1019:NM_015148.3|protein_coding|12/18|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:B_996-B_1019:NM_015148.3|protein_coding|12/18|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:B_997-B_1019:NM_015148.3|protein_coding|12/18|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:C_996-C_1019:NM_015148.3|protein_coding|12/18|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:E_996-E_1019:NM_015148.3|protein_coding|12/18|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:F_996-F_1019:NM_015148.3|protein_coding|12/18|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:A_996-A_1019:NM_001252120.1|protein_coding|13/19|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:A_998-A_1019:NM_001252120.1|protein_coding|13/19|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:B_996-B_1019:NM_001252120.1|protein_coding|13/19|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:B_997-B_1019:NM_001252120.1|protein_coding|13/19|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:C_996-C_1019:NM_001252120.1|protein_coding|13/19|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:E_996-E_1019:NM_001252120.1|protein_coding|13/19|c.3057G>A||||||,T|structural_interaction_variant|HIGH|PASK|PASK|interaction|3DLS:F_996-F_1019:NM_001252120.1|protein_coding|13/19|c.3057G>A||||||,T|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252119.1|protein_coding|12/18|c.3057G>A|p.Lys1019Lys|3190/4593|3057/3993|1019/1330||,T|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252122.1|protein_coding|12/18|c.2952G>A|p.Lys984Lys|3085/4467|2952/3867|984/1288||,T|synonymous_variant|LOW|PASK|PASK|transcript|NM_015148.3|protein_coding|12/18|c.3057G>A|p.Lys1019Lys|3190/4572|3057/3972|1019/1323||,T|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252120.1|protein_coding|13/19|c.3057G>A|p.Lys1019Lys|3343/4725|3057/3972|1019/1323||,T|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252124.1|protein_coding|12/14|c.3057G>A|p.Lys1019Lys|3190/4874|3057/3432|1019/1143||,T|sequence_feature|LOW|PASK|PASK|turn:combinatorial_evidence_used_in_manual_assertion|NM_001252119.1|protein_coding|12/18|c.3057G>A||||||,T|sequence_feature|LOW|PASK|PASK|turn:combinatorial_evidence_used_in_manual_assertion|NM_001252124.1|protein_coding|12/14|c.3057G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1476;p3_1000G_AF=0.294728;p3_1000G_AFR_AF=0.4811;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=18407;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.0964;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242062162;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1309;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1823,2583;ESP6500_AA_AGE=529.0+/-372.6;ESP6500_AA_GTC=406,1011,786;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=2.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=89;ESP6500_EA_AC=752,7848;ESP6500_EA_AGE=178.3+/-227.7;ESP6500_EA_GTC=30,692,3578;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:coding-synonymous,NM_001252124.1:coding-synonymous,NM_001252122.1:coding-synonymous,NM_001252120.1:coding-synonymous,NM_001252119.1:coding-synonymous;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241122747;ESP6500_GTC=436,1703,4364;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.3057G>A,NM_001252124.1:c.3057G>A,NM_001252122.1:c.2952G>A,NM_001252120.1:c.3057G>A,NM_001252119.1:c.3057G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015148.3:p.(K1019),NM_001252124.1:p.(K1019),NM_001252122.1:p.(K984),NM_001252120.1:p.(K1019),NM_001252119.1:p.(K1019);ESP6500_MAF=8.7442,41.3754,19.7986;ESP6500_TAC=2575,10431	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1790,165,0
chr2	241123935	rs13385610	T	C	2043.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.5;SOR=1.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13385610;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|11/17|c.2904+14A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|11/17|c.2799+14A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|11/17|c.2904+14A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|12/18|c.2904+14A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding|11/13|c.2904+14A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1956;p3_1000G_AF=0.390575;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.3415;p3_1000G_AN=5008;p3_1000G_DP=17923;p3_1000G_EAS_AF=0.5714;p3_1000G_EUR_AF=0.16;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242063350;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1656;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2459,1947;ESP6500_AA_AGE=548.1+/-377.4;ESP6500_AA_GTC=703,1053,447;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=50;ESP6500_EA_AC=1328,7272;ESP6500_EA_AGE=756.5+/-407.5;ESP6500_EA_GTC=104,1120,3076;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:intron,NM_001252124.1:intron,NM_001252122.1:intron,NM_001252120.1:intron,NM_001252119.1:intron;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241123935;ESP6500_GTC=807,2173,3523;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.2904+14A>G,NM_001252124.1:c.2904+14A>G,NM_001252122.1:c.2799+14A>G,NM_001252120.1:c.2904+14A>G,NM_001252119.1:c.2904+14A>G;ESP6500_MAF=15.4419,44.1897,29.1173;ESP6500_TAC=3787,9219	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2072,201,0
chr2	241126083	rs740393	A	G	769.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs740393;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|10/17|c.2719+113T>C||||||,G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|10/17|c.2614+113T>C||||||,G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|10/17|c.2719+113T>C||||||,G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|11/18|c.2719+113T>C||||||,G|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding|10/13|c.2719+113T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1546;p3_1000G_AF=0.308706;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=20631;p3_1000G_EAS_AF=0.3552;p3_1000G_EUR_AF=0.0716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242065498;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.092;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:798,63,0
chr2	241126741	rs2005771	C	T	2257.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=72;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.36;SOR=1.148;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2005771;dbSNPBuildID=92;ANN=T|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252119.1|protein_coding|10/18|c.2174G>A|p.Gly725Asp|2307/4593|2174/3993|725/1330||,T|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252122.1|protein_coding|10/18|c.2069G>A|p.Gly690Asp|2202/4467|2069/3867|690/1288||,T|missense_variant|MODERATE|PASK|PASK|transcript|NM_015148.3|protein_coding|10/18|c.2174G>A|p.Gly725Asp|2307/4572|2174/3972|725/1323||,T|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252120.1|protein_coding|11/19|c.2174G>A|p.Gly725Asp|2460/4725|2174/3972|725/1323||,T|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252124.1|protein_coding|10/14|c.2174G>A|p.Gly725Asp|2307/4874|2174/3432|725/1143||;p3_1000G_AA=C|||;p3_1000G_AC=386;p3_1000G_AF=0.0770767;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=20411;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242066156;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=20,4386;ESP6500_AA_AGE=25.3+/-52.1;ESP6500_AA_GTC=0,20,2183;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=46;ESP6500_EA_AC=18,8582;ESP6500_EA_AGE=11.2+/-40.8;ESP6500_EA_GTC=0,18,4282;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015148.3:missense,NM_001252124.1:missense,NM_001252122.1:missense,NM_001252120.1:missense,NM_001252119.1:missense;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241126741;ESP6500_GS=94,94,94,94,94;ESP6500_GTC=0,38,6465;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.2174G>A,NM_001252124.1:c.2174G>A,NM_001252122.1:c.2069G>A,NM_001252120.1:c.2174G>A,NM_001252119.1:c.2174G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015148.3:p.(G725D),NM_001252124.1:p.(G725D),NM_001252122.1:p.(G690D),NM_001252120.1:p.(G725D),NM_001252119.1:p.(G725D);ESP6500_MAF=0.2093,0.4539,0.2922;ESP6500_PH=possibly-damaging:0.744,possibly-damaging:0.744,possibly-damaging:0.744,possibly-damaging:0.744,possibly-damaging:0.744;ESP6500_TAC=38,12968	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2286,216,0
chr2	241126899	rs2240542	T	C	1735.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2240542;dbSNPBuildID=98;ANN=C|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252119.1|protein_coding|10/18|c.2016A>G|p.Ala672Ala|2149/4593|2016/3993|672/1330||,C|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252122.1|protein_coding|10/18|c.1911A>G|p.Ala637Ala|2044/4467|1911/3867|637/1288||,C|synonymous_variant|LOW|PASK|PASK|transcript|NM_015148.3|protein_coding|10/18|c.2016A>G|p.Ala672Ala|2149/4572|2016/3972|672/1323||,C|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252120.1|protein_coding|11/19|c.2016A>G|p.Ala672Ala|2302/4725|2016/3972|672/1323||,C|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252124.1|protein_coding|10/14|c.2016A>G|p.Ala672Ala|2149/4874|2016/3432|672/1143||;p3_1000G_AA=C|||;p3_1000G_AC=2145;p3_1000G_AF=0.428315;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=20173;p3_1000G_EAS_AF=0.4077;p3_1000G_EUR_AF=0.2575;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242066314;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2596,1810;ESP6500_AA_AGE=526.5+/-371.9;ESP6500_AA_GTC=755,1086,362;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=120;ESP6500_EA_AC=2553,6047;ESP6500_EA_AGE=686.7+/-404.1;ESP6500_EA_GTC=371,1811,2118;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015148.3:coding-synonymous,NM_001252124.1:coding-synonymous,NM_001252122.1:coding-synonymous,NM_001252120.1:coding-synonymous,NM_001252119.1:coding-synonymous;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241126899;ESP6500_GTC=1126,2897,2480;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.2016A>G,NM_001252124.1:c.2016A>G,NM_001252122.1:c.1911A>G,NM_001252120.1:c.2016A>G,NM_001252119.1:c.2016A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015148.3:p.(A672),NM_001252124.1:p.(A672),NM_001252122.1:p.(A637),NM_001252120.1:p.(A672),NM_001252119.1:p.(A672);ESP6500_MAF=29.686,41.0803,39.5894;ESP6500_TAC=5149,7857	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1764,156,0
chr2	241127374	rs2240543	A	G	1055.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2240543;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252119.1|protein_coding|10/18|c.1541T>C|p.Leu514Ser|1674/4593|1541/3993|514/1330||,G|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252122.1|protein_coding|10/18|c.1436T>C|p.Leu479Ser|1569/4467|1436/3867|479/1288||,G|missense_variant|MODERATE|PASK|PASK|transcript|NM_015148.3|protein_coding|10/18|c.1541T>C|p.Leu514Ser|1674/4572|1541/3972|514/1323||,G|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252120.1|protein_coding|11/19|c.1541T>C|p.Leu514Ser|1827/4725|1541/3972|514/1323||,G|missense_variant|MODERATE|PASK|PASK|transcript|NM_001252124.1|protein_coding|10/14|c.1541T>C|p.Leu514Ser|1674/4874|1541/3432|514/1143||;p3_1000G_AA=A|||;p3_1000G_AC=385;p3_1000G_AF=0.076877;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=18362;p3_1000G_EAS_AF=0.2312;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242066789;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0552;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=20,4386;ESP6500_AA_AGE=27.2+/-55.0;ESP6500_AA_GTC=0,20,2183;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=110;ESP6500_EA_AC=20,8580;ESP6500_EA_AGE=13.3+/-46.6;ESP6500_EA_GTC=0,20,4280;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015148.3:missense,NM_001252124.1:missense,NM_001252122.1:missense,NM_001252120.1:missense,NM_001252119.1:missense;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241127374;ESP6500_GS=145,145,145,145,145;ESP6500_GTC=0,40,6463;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.1541T>C,NM_001252124.1:c.1541T>C,NM_001252122.1:c.1436T>C,NM_001252120.1:c.1541T>C,NM_001252119.1:c.1541T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015148.3:p.(L514S),NM_001252124.1:p.(L514S),NM_001252122.1:p.(L479S),NM_001252120.1:p.(L514S),NM_001252119.1:p.(L514S);ESP6500_MAF=0.2326,0.4539,0.3076;ESP6500_PH=benign:0.013,benign:0.013,benign:0.013,benign:0.013,benign:0.013;ESP6500_TAC=40,12966	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1084,99,0
chr2	241135947	rs2066958	G	A	676.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.09;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.018;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.275;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2066958;dbSNPBuildID=96;ANN=A|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252119.1|protein_coding|8/18|c.1230C>T|p.Asp410Asp|1363/4593|1230/3993|410/1330||,A|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252122.1|protein_coding|8/18|c.1125C>T|p.Asp375Asp|1258/4467|1125/3867|375/1288||,A|synonymous_variant|LOW|PASK|PASK|transcript|NM_015148.3|protein_coding|8/18|c.1230C>T|p.Asp410Asp|1363/4572|1230/3972|410/1323||,A|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252120.1|protein_coding|9/19|c.1230C>T|p.Asp410Asp|1516/4725|1230/3972|410/1323||,A|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252124.1|protein_coding|8/14|c.1230C>T|p.Asp410Asp|1363/4874|1230/3432|410/1143||;p3_1000G_AA=G|||;p3_1000G_AC=405;p3_1000G_AF=0.0808706;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=17722;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242075362;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=14,4392;ESP6500_AA_AGE=21.2+/-45.6;ESP6500_AA_GTC=0,14,2189;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=131;ESP6500_EA_AC=30,8570;ESP6500_EA_AGE=21.0+/-64.5;ESP6500_EA_GTC=0,30,4270;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:coding-synonymous,NM_001252124.1:coding-synonymous,NM_001252122.1:coding-synonymous,NM_001252120.1:coding-synonymous,NM_001252119.1:coding-synonymous;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241135947;ESP6500_GTC=0,44,6459;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.1230C>T,NM_001252124.1:c.1230C>T,NM_001252122.1:c.1125C>T,NM_001252120.1:c.1230C>T,NM_001252119.1:c.1230C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015148.3:p.(D410),NM_001252124.1:p.(D410),NM_001252122.1:p.(D375),NM_001252120.1:p.(D410),NM_001252119.1:p.(D410);ESP6500_MAF=0.3488,0.3177,0.3383;ESP6500_TAC=44,12962	GT:AD:DP:GQ:PL	0/1:22,27:49:99:705,0,507
chr2	241137357	rs185710974	T	C	183.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.27;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs185710974;dbSNPBuildID=135;ANN=C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|6/17|c.877-93A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|6/17|c.772-93A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|6/17|c.877-93A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|7/18|c.877-93A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding|6/13|c.877-93A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=25;p3_1000G_AF=0.00499201;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=18921;p3_1000G_EAS_AF=0.0228;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242076772;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,7:17:99:212,0,339
chr2	241137884	rs2240552	G	A	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.376;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=1.58;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2240552;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|6/17|c.876+69C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|6/17|c.771+69C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|6/17|c.876+69C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|7/18|c.876+69C>T||||||,A|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding|6/13|c.876+69C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=409;p3_1000G_AF=0.0816693;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=19515;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242077299;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,6:20:99:148,0,431
chr2	241139818	rs10933531	T	C	2065.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.87;SOR=2.265;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10933531;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|4/17|c.600+67A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|4/17|c.600+67A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|4/17|c.600+67A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|5/18|c.600+67A>G||||||,C|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding|4/13|c.600+67A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3106;p3_1000G_AF=0.620208;p3_1000G_AFR_AF=0.5318;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=16426;p3_1000G_EAS_AF=0.9097;p3_1000G_EUR_AF=0.4622;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242079233;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2094,183,0
chr2	241140138	rs10933532	C	T	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.994;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.881;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10933532;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|3/17|c.430-83G>A||||||,T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|3/17|c.430-83G>A||||||,T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|3/17|c.430-83G>A||||||,T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|4/18|c.430-83G>A||||||,T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding|3/13|c.430-83G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1129;p3_1000G_AF=0.225439;p3_1000G_AFR_AF=0.2905;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=20675;p3_1000G_EAS_AF=0.2599;p3_1000G_EUR_AF=0.0865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242079553;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2597;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:315,0,372
chr2	241142803	rs2074833	C	T	314.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.833;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.736;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.21;ReadPosRankSum=0.675;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2074833;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|2/17|c.196+34G>A||||||,T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|2/17|c.196+34G>A||||||,T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|2/17|c.196+34G>A||||||,T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|3/18|c.196+34G>A||||||,T|intron_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding|2/13|c.196+34G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=406;p3_1000G_AF=0.0810703;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=21352;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242082218;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=15,4391;ESP6500_AA_AGE=22.3+/-47.3;ESP6500_AA_GTC=0,15,2188;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=43;ESP6500_EA_AC=34,8566;ESP6500_EA_AGE=23.4+/-69.3;ESP6500_EA_GTC=0,34,4266;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:intron,NM_001252124.1:intron,NM_001252122.1:intron,NM_001252120.1:intron,NM_001252119.1:intron;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241142803;ESP6500_GTC=0,49,6454;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.196+34G>A,NM_001252124.1:c.196+34G>A,NM_001252122.1:c.196+34G>A,NM_001252120.1:c.196+34G>A,NM_001252119.1:c.196+34G>A;ESP6500_MAF=0.3953,0.3404,0.3767;ESP6500_TAC=49,12957	GT:AD:DP:GQ:PL	0/1:2,11:13:39:343,0,39
chr2	241142847	rs6709462	T	C	563.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6709462;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252119.1|protein_coding|2/18|c.186A>G|p.Thr62Thr|319/4593|186/3993|62/1330||,C|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252122.1|protein_coding|2/18|c.186A>G|p.Thr62Thr|319/4467|186/3867|62/1288||,C|synonymous_variant|LOW|PASK|PASK|transcript|NM_015148.3|protein_coding|2/18|c.186A>G|p.Thr62Thr|319/4572|186/3972|62/1323||,C|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252120.1|protein_coding|3/19|c.186A>G|p.Thr62Thr|472/4725|186/3972|62/1323||,C|synonymous_variant|LOW|PASK|PASK|transcript|NM_001252124.1|protein_coding|2/14|c.186A>G|p.Thr62Thr|319/4874|186/3432|62/1143||;p3_1000G_AA=C|||;p3_1000G_AC=2993;p3_1000G_AF=0.597644;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=20296;p3_1000G_EAS_AF=0.9097;p3_1000G_EUR_AF=0.4622;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242082262;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1995,2411;ESP6500_AA_AGE=615.0+/-392.5;ESP6500_AA_GTC=447,1101,655;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=74;ESP6500_EA_AC=3947,4653;ESP6500_EA_AGE=601.5+/-394.4;ESP6500_EA_GTC=870,2207,1223;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:coding-synonymous,NM_001252124.1:coding-synonymous,NM_001252122.1:coding-synonymous,NM_001252120.1:coding-synonymous,NM_001252119.1:coding-synonymous;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241142847;ESP6500_GTC=1317,3308,1878;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.186A>G,NM_001252124.1:c.186A>G,NM_001252122.1:c.186A>G,NM_001252120.1:c.186A>G,NM_001252119.1:c.186A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015148.3:p.(T62),NM_001252124.1:p.(T62),NM_001252122.1:p.(T62),NM_001252120.1:p.(T62),NM_001252119.1:p.(T62);ESP6500_MAF=45.8953,45.2792,45.6866;ESP6500_TAC=5942,7064	GT:AD:DP:GQ:PL	1/1:0,19:19:57:592,57,0
chr2	241143065	rs758068	A	C	84.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.792;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs758068;dbSNPBuildID=86;ANN=C|5_prime_UTR_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding|2/18|c.-33T>G|||||33|,C|5_prime_UTR_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding|2/18|c.-33T>G|||||33|,C|5_prime_UTR_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding|2/18|c.-33T>G|||||33|,C|5_prime_UTR_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|3/19|c.-33T>G|||||33|,C|5_prime_UTR_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding|2/14|c.-33T>G|||||33|;p3_1000G_AA=C|||;p3_1000G_AC=1982;p3_1000G_AF=0.395767;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=20847;p3_1000G_EAS_AF=0.3313;p3_1000G_EUR_AF=0.4493;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242082480;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1583,2823;ESP6500_AA_AGE=651.3+/-399.2;ESP6500_AA_GTC=286,1011,906;ESP6500_CDS_SIZES=NM_015148.3:3972,NM_001252124.1:3432,NM_001252122.1:3867,NM_001252120.1:3972,NM_001252119.1:3993;ESP6500_CG=-0.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=32;ESP6500_EA_AC=3907,4693;ESP6500_EA_AGE=597.8+/-393.8;ESP6500_EA_GTC=849,2209,1242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015148.3:utr-5,NM_001252124.1:utr-5,NM_001252122.1:utr-5,NM_001252120.1:utr-5,NM_001252119.1:utr-5;ESP6500_GL=PASK;ESP6500_GRCh38_POSITION=2:241143065;ESP6500_GTC=1135,3220,2148;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015148.3:c.-33T>G,NM_001252124.1:c.-33T>G,NM_001252122.1:c.-33T>G,NM_001252120.1:c.-33T>G,NM_001252119.1:c.-33T>G;ESP6500_MAF=45.4302,35.9283,42.2113;ESP6500_TAC=5490,7516	GT:AD:DP:GQ:PL	0/1:3,4:7:89:113,0,89
chr2	241149762	rs3806601	C	T	30.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806601;dbSNPBuildID=107;ANN=T|5_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_002712.2|protein_coding|1/10|c.-734C>T|||||734|,T|5_prime_UTR_variant|MODIFIER|PASK|PASK|transcript|NM_001252120.1|protein_coding|2/19|c.-197G>A|||||6730|,T|5_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282410.1|protein_coding|1/9|c.-734C>T|||||734|,T|5_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282411.1|protein_coding|1/8|c.-734C>T|||||734|,T|5_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282409.1|protein_coding|1/9|c.-734C>T|||||734|,T|upstream_gene_variant|MODIFIER|PASK|PASK|transcript|NM_001252119.1|protein_coding||c.-6730G>A|||||258|,T|upstream_gene_variant|MODIFIER|PASK|PASK|transcript|NM_001252122.1|protein_coding||c.-6730G>A|||||258|,T|upstream_gene_variant|MODIFIER|PASK|PASK|transcript|NM_015148.3|protein_coding||c.-6730G>A|||||258|,T|upstream_gene_variant|MODIFIER|PASK|PASK|transcript|NM_001252124.1|protein_coding||c.-6730G>A|||||258|,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282414.1|protein_coding|1/7|c.4+54C>T||||||,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282412.1|protein_coding|1/9|c.4+54C>T||||||,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282413.1|protein_coding|1/8|c.4+54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=378;p3_1000G_AF=0.0754792;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=13357;p3_1000G_EAS_AF=0.2014;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242089177;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:37:59,0,37
chr2	241160546	rs2017989	C	T	440.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.91;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2017989;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_002712.2|protein_coding|6/9|c.597+52C>T||||||,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282414.1|protein_coding|5/7|c.420+52C>T||||||,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282412.1|protein_coding|6/9|c.549+52C>T||||||,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282413.1|protein_coding|5/8|c.420+52C>T||||||,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282410.1|protein_coding|6/8|c.597+52C>T||||||,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282411.1|protein_coding|5/7|c.468+52C>T||||||,T|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282409.1|protein_coding|5/8|c.468+52C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4977;p3_1000G_AF=0.99381;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9928;p3_1000G_AN=5008;p3_1000G_DP=17523;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9801;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242099961;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2637,17;ESP6500_AA_GTC=1310,17,0;ESP6500_CDS_SIZES=NM_002712.1:1083;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=23;ESP6500_EA_AC=4483,135;ESP6500_EA_GTC=2177,129,3;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002712.1:intron;ESP6500_GL=PPP1R7;ESP6500_GRCh38_POSITION=2:241160546;ESP6500_GTC=3487,146,3;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_002712.1:c.597+52C>T;ESP6500_MAF=2.9233,0.6405,2.0902;ESP6500_TAC=7120,152	GT:AD:DP:GQ:PL	1/1:0,13:13:39:469,39,0
chr2	241182622	rs12465895	G	C	414.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.081;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=3.469;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.123;SOR=1.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12465895;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_002712.2|protein_coding|9/9|c.907-25G>C||||||,C|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282412.1|protein_coding|9/9|c.859-25G>C||||||,C|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282413.1|protein_coding|8/8|c.730-25G>C||||||,C|intron_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282409.1|protein_coding|8/8|c.778-25G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=411;p3_1000G_AF=0.0820687;p3_1000G_AFR_AF=0.0091;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=19106;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.005;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242122037;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1022;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=34,4372;ESP6500_AA_AGE=38.4+/-70.7;ESP6500_AA_GTC=1,32,2170;ESP6500_CDS_SIZES=NM_002712.1:1083;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=105;ESP6500_EA_AC=33,8567;ESP6500_EA_AGE=22.2+/-67.0;ESP6500_EA_GTC=0,33,4267;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002712.1:intron;ESP6500_GL=PPP1R7;ESP6500_GRCh38_POSITION=2:241182622;ESP6500_GTC=1,65,6437;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002712.1:c.907-25G>C;ESP6500_MAF=0.3837,0.7717,0.5151;ESP6500_TAC=67,12939	GT:AD:DP:GQ:PL	0/1:24,15:39:99:443,0,746
chr2	241183405	rs11741	G	A	216.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.34;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-1.02;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11741;dbSNPBuildID=52;ANN=A|3_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_002712.2|protein_coding|10/10|c.*582G>A|||||582|,A|3_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282412.1|protein_coding|10/10|c.*582G>A|||||582|,A|3_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282413.1|protein_coding|9/9|c.*582G>A|||||582|,A|3_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282409.1|protein_coding|9/9|c.*582G>A|||||582|;p3_1000G_AA=G|||;p3_1000G_AC=1010;p3_1000G_AF=0.201677;p3_1000G_AFR_AF=0.441;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=11674;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242122820;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:245,0,288
chr2	241183429	rs16843427	C	T	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.782;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.687;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16843427;dbSNPBuildID=123;ANN=T|3_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_002712.2|protein_coding|10/10|c.*606C>T|||||606|,T|3_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282412.1|protein_coding|10/10|c.*606C>T|||||606|,T|3_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282413.1|protein_coding|9/9|c.*606C>T|||||606|,T|3_prime_UTR_variant|MODIFIER|PPP1R7|PPP1R7|transcript|NM_001282409.1|protein_coding|9/9|c.*606C>T|||||606|;p3_1000G_AA=C|||;p3_1000G_AC=404;p3_1000G_AF=0.0806709;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=15366;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242122844;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,7:19:99:175,0,296
chr2	241190030	rs2302053	A	G	824.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.608;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0.975;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.369;SOR=0.701;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302053;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|1/24|c.156-27A>G||||||,G|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001666.3|protein_coding|1/3|c.156-27A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=118;p3_1000G_AF=0.0235623;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16189;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242129445;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,4337;ESP6500_AA_GTC=0,1,2168;ESP6500_CDS_SIZES=NM_001001891.3:2802,NM_001001666.3:540;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=1,8487;ESP6500_EA_GTC=0,1,4243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001891.3:intron,NM_001001666.3:intron;ESP6500_GL=ANO7;ESP6500_GRCh38_POSITION=2:241190030;ESP6500_GTC=0,2,6411;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001001891.3:c.156-27A>G,NM_001001666.3:c.156-27A>G;ESP6500_MAF=0.0118,0.0231,0.0156;ESP6500_TAC=2,12824	GT:AD:DP:GQ:PL	0/1:28,34:62:99:853,0,628
chr2	241190100	rs2302054	G	A	592.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.742;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=4.919;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.305;SOR=1.009;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2302054;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|2/25|c.199G>A|p.Val67Ile|302/4128|199/2802|67/933||,A|missense_variant|MODERATE|ANO7|ANO7|transcript|NM_001001666.3|protein_coding|2/4|c.199G>A|p.Val67Ile|302/891|199/540|67/179||;p3_1000G_AA=G|||;p3_1000G_AC=790;p3_1000G_AF=0.157748;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=16696;p3_1000G_EAS_AF=0.4772;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242129515;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=117,4281;ESP6500_AA_GTC=3,111,2085;ESP6500_CDS_SIZES=NM_001001891.3:2802,NM_001001666.3:540;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=35;ESP6500_EA_AC=33,8547;ESP6500_EA_GTC=0,33,4257;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001891.3:missense,NM_001001666.3:missense;ESP6500_GL=ANO7;ESP6500_GRCh38_POSITION=2:241190100;ESP6500_GS=29,29;ESP6500_GTC=3,144,6342;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001891.3:c.199G>A,NM_001001666.3:c.199G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001001891.3:p.(V67I),NM_001001666.3:p.(V67I);ESP6500_MAF=0.3846,2.6603,1.1558;ESP6500_PH=possibly-damaging:0.708,possibly-damaging:0.708;ESP6500_TAC=150,12828	GT:AD:DP:GQ:PL	0/1:37,27:64:99:621,0,989
chr2	241191363	rs2074836	G	A	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.217;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.792;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2074836;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|3/24|c.328+112G>A||||||,A|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001666.3|protein_coding|3/3|c.328+112G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=356;p3_1000G_AF=0.0710863;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=11101;p3_1000G_EAS_AF=0.1746;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242130778;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:97:97,0,109
chr2	241195602	rs12694996	A	C	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.658;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=9.779;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=-1.003;SOR=0.033;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12694996;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|3/24|c.329-101A>C||||||,C|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001666.3|protein_coding|3/3|c.329-104A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3454;p3_1000G_AF=0.689696;p3_1000G_AFR_AF=0.7806;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=17094;p3_1000G_EAS_AF=0.4345;p3_1000G_EUR_AF=0.8141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242135017;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,14:25:99:398,0,317
chr2	241201218	rs879293108	GCAGCTTCCTCCAAACCTTCTGCACCGTTCACATGCCCA	G	791.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.133;ClippingRankSum=0;DP=98;ExcessHet=3.0103;FS=0.794;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=1.4;SOR=0.825;DEL;HET;VARTYPE=DEL;dbSNPBuildID=149;ANN=G|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|6/24|c.717-55_717-18delCGTTCACATGCCCACAGCTTCCTCCAAACCTTCTGCAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:60,36:96:99:829,0,13462
chr2	241203093	rs2074842	G	A	160.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.465;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-1.51;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2074842;dbSNPBuildID=96;ANN=A|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|8/24|c.886-240G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=747;p3_1000G_AF=0.149161;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=15602;p3_1000G_EAS_AF=0.4861;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242142508;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:189,0,226
chr2	241203506	rs77640154	C	T	1062.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.292;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=2.13;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.65;SOR=0.615;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77640154;dbSNPBuildID=131;ANN=T|splice_region_variant&intron_variant|LOW|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|9/24|c.1051+8C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=482;p3_1000G_AF=0.096246;p3_1000G_AFR_AF=0.0915;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=11017;p3_1000G_EAS_AF=0.1766;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242142921;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0706;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=326,3992;ESP6500_AA_GTC=18,290,1851;ESP6500_CDS_SIZES=NM_001001891.3:2802;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=20;ESP6500_EA_AC=52,8462;ESP6500_EA_GTC=0,52,4205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001891.3:intron;ESP6500_GL=ANO7;ESP6500_GRCh38_POSITION=2:241203506;ESP6500_GTC=18,342,6056;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001891.3:c.1051+8C>T;ESP6500_MAF=0.6108,7.5498,2.9458;ESP6500_TAC=378,12454	GT:AD:DP:GQ:PL	0/1:25,40:65:99:1091,0,613
chr2	241209349	rs4675982	T	A	575.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.889;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=9.681;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.663;SOR=0.156;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675982;dbSNPBuildID=111;ANN=A|missense_variant|MODERATE|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|12/25|c.1304T>A|p.Val435Glu|1407/4128|1304/2802|435/933||;p3_1000G_AA=T|||;p3_1000G_AC=311;p3_1000G_AF=0.0621006;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.255;p3_1000G_AN=5008;p3_1000G_DP=15767;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242148764;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=16,4368;ESP6500_AA_GTC=0,16,2176;ESP6500_CDS_SIZES=NM_001001891.3:2802;ESP6500_CG=0.7;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=33;ESP6500_EA_AC=14,8564;ESP6500_EA_GTC=0,14,4275;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001001891.3:missense;ESP6500_GL=ANO7;ESP6500_GRCh38_POSITION=2:241209349;ESP6500_GS=121;ESP6500_GTC=0,30,6451;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001001891.3:c.1304T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001001891.3:p.(V435E);ESP6500_MAF=0.1632,0.365,0.2314;ESP6500_PH=probably-damaging:0.979;ESP6500_TAC=30,12932	GT:AD:DP:GQ:PL	0/1:38,27:65:99:604,0,1049
chr2	241209658	rs10192730	G	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.984;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.044;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10192730;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|13/24|c.1521+23G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3593;p3_1000G_AF=0.717452;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.8602;p3_1000G_AN=5008;p3_1000G_DP=15631;p3_1000G_EAS_AF=0.4692;p3_1000G_EUR_AF=0.7266;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242149073;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5072;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4146,260;ESP6500_AA_AGE=142.7+/-177.9;ESP6500_AA_GTC=1950,246,7;ESP6500_CDS_SIZES=NM_001001891.3:2802;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=41;ESP6500_EA_AC=6264,2332;ESP6500_EA_AGE=381.0+/-339.9;ESP6500_EA_GTC=2291,1682,325;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001891.3:intron;ESP6500_GL=ANO7;ESP6500_GRCh38_POSITION=2:241209658;ESP6500_GTC=4241,1928,332;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001891.3:c.1521+23G>A;ESP6500_MAF=27.1289,5.901,19.9354;ESP6500_TAC=10410,2592	GT:AD:DP:GQ:PL	0/1:10,11:21:99:240,0,291
chr2	241212260	rs12473431	T	C	1138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.61;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=12.577;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.619;SOR=1.867;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12473431;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|16/24|c.1835+55T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=469;p3_1000G_AF=0.0936502;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.2666;p3_1000G_AN=5008;p3_1000G_DP=21022;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242151675;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1033;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1167,0,1524
chr2	241217813	rs78605785	G	C	593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.897;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.268;SOR=0.756;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78605785;dbSNPBuildID=131;ANN=C|synonymous_variant|LOW|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|20/25|c.2262G>C|p.Pro754Pro|2365/4128|2262/2802|754/933||;p3_1000G_AA=g|||;p3_1000G_AC=435;p3_1000G_AF=0.086861;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=8027;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242157228;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0951;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:32,27:59:99:622,0,798
chr2	241223317	rs13392669	G	C	280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.604;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=1.86;SOR=0.686;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13392669;dbSNPBuildID=121;ANN=C|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320965.1|protein_coding||c.*6284C>G|||||3947|,C|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320966.1|protein_coding||c.*6284C>G|||||3947|,C|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001243900.2|protein_coding||c.*6284C>G|||||3947|,C|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320967.1|protein_coding||c.*5061C>G|||||3947|,C|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_203346.4|protein_coding||c.*6284C>G|||||3947|,C|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_005336.5|protein_coding||c.*6284C>G|||||3947|,C|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|22/24|c.2574+41G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=1170;p3_1000G_AF=0.233626;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=20608;p3_1000G_EAS_AF=0.1438;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242162732;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1063;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2153,2253;ESP6500_AA_AGE=594.9+/-388.3;ESP6500_AA_GTC=530,1093,580;ESP6500_CDS_SIZES=NM_001001891.3:2802;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=96;ESP6500_EA_AC=129,8471;ESP6500_EA_AGE=813.7+/-407.0;ESP6500_EA_GTC=0,129,4171;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001891.3:intron;ESP6500_GL=ANO7;ESP6500_GRCh38_POSITION=2:241223317;ESP6500_GTC=530,1222,4751;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001001891.3:c.2574+41G>C;ESP6500_MAF=1.5,48.8652,17.5457;ESP6500_TAC=2282,10724	GT:AD:DP:GQ:PL	0/1:35,15:50:99:309,0,1024
chr2	241223814	rs2305070	C	G	845.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.899;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0.94;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.8;SOR=0.82;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305070;dbSNPBuildID=100;ANN=G|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320965.1|protein_coding||c.*5787G>C|||||3450|,G|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320966.1|protein_coding||c.*5787G>C|||||3450|,G|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001243900.2|protein_coding||c.*5787G>C|||||3450|,G|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320967.1|protein_coding||c.*4564G>C|||||3450|,G|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_203346.4|protein_coding||c.*5787G>C|||||3450|,G|downstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_005336.5|protein_coding||c.*5787G>C|||||3450|,G|intron_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding|23/24|c.2694+33C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=433;p3_1000G_AF=0.0864617;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=18423;p3_1000G_EAS_AF=0.1458;p3_1000G_EUR_AF=0.004;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242163229;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0961;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=23,4383;ESP6500_AA_AGE=27.2+/-55.0;ESP6500_AA_GTC=0,23,2180;ESP6500_CDS_SIZES=NM_001001891.3:2802;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=84;ESP6500_EA_AC=37,8563;ESP6500_EA_AGE=24.6+/-71.5;ESP6500_EA_GTC=0,37,4263;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001001891.3:intron;ESP6500_GL=ANO7;ESP6500_GRCh38_POSITION=2:241223814;ESP6500_GTC=0,60,6443;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001001891.3:c.2694+33C>G;ESP6500_MAF=0.4302,0.522,0.4613;ESP6500_TAC=60,12946	GT:AD:DP:GQ:PL	0/1:31,35:66:99:874,0,865
chr2	241229561	rs15129	T	C	411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs15129;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320965.1|protein_coding|28/28|c.*40A>G|||||40|,C|3_prime_UTR_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320966.1|protein_coding|28/28|c.*40A>G|||||40|,C|3_prime_UTR_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001243900.2|protein_coding|28/28|c.*40A>G|||||40|,C|3_prime_UTR_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_203346.4|protein_coding|28/28|c.*40A>G|||||40|,C|3_prime_UTR_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_005336.5|protein_coding|28/28|c.*40A>G|||||40|,C|downstream_gene_variant|MODIFIER|ANO7|ANO7|transcript|NM_001001891.3|protein_coding||c.*5408T>C|||||4185|,C|intron_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320967.1|protein_coding|27/27|c.3720+272A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1844;p3_1000G_AF=0.368211;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.3847;p3_1000G_AN=5008;p3_1000G_DP=15209;p3_1000G_EAS_AF=0.745;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242168976;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=850,3554;ESP6500_AA_AGE=720.2+/-409.0;ESP6500_AA_GTC=85,680,1437;ESP6500_CDS_SIZES=NM_203346.3:3807,NM_005336.4:3807,NM_001243900.1:3708;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=112;ESP6500_EA_AC=1637,6963;ESP6500_EA_AGE=717.9+/-406.2;ESP6500_EA_GTC=162,1313,2825;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_203346.3:utr-3,NM_005336.4:utr-3,NM_001243900.1:utr-3;ESP6500_GL=HDLBP;ESP6500_GRCh38_POSITION=2:241229561;ESP6500_GTC=247,1993,4262;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_203346.3:c.*40A>G,NM_005336.4:c.*40A>G,NM_001243900.1:c.*40A>G;ESP6500_MAF=19.0349,19.3006,19.1249;ESP6500_TAC=2487,10517	GT:AD:DP:GQ:PL	1/1:0,14:14:42:440,42,0
chr2	241267541	rs35334418	C	T	1603.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.84;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35334418;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320965.1|protein_coding|2/27|c.-37-635G>A||||||,T|intron_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320966.1|protein_coding|2/27|c.-37-635G>A||||||,T|intron_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001243900.2|protein_coding|3/27|c.71+37G>A||||||,T|intron_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320967.1|protein_coding|2/27|c.-37-635G>A||||||,T|intron_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_203346.4|protein_coding|2/27|c.-37-635G>A||||||,T|intron_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_005336.5|protein_coding|2/27|c.-37-635G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4766;p3_1000G_AF=0.951677;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=20371;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242206956;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1632,156,0
chr2	241317397	rs12233133	G	C	43.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.108;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.25;ReadPosRankSum=-1.068;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12233133;dbSNPBuildID=120;ANN=C|upstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320965.1|protein_coding||c.-50528C>G|||||2105|,C|upstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_005336.5|protein_coding||c.-50528C>G|||||1555|,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|2/13|c.88+842G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|1/13|c.-118-102G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|1/12|c.-18+1787G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|1/13|c.-103+1415G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|2/16|c.-226-102G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|2/13|c.73+857G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|2/14|c.-118-102G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|1/12|c.-18+1415G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|2/14|c.-118-102G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|1/13|c.-118-102G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|1/12|c.-18+1415G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|1/13|c.-118-102G>C||||||,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|2/14|c.-118-102G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=999;p3_1000G_AF=0.199481;p3_1000G_AFR_AF=0.0514;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=18526;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242256812;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,3:7:72:72,0,115
chr2	241317535	rs750805176	AT	A	115.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.577;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.404;SOR=0.458;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|5_prime_UTR_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|2/14|c.-65delT|||||6681|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|3/17|c.-173delT|||||6681|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|3/15|c.-65delT|||||6681|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|3/15|c.-65delT|||||6681|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|2/14|c.-65delT|||||6681|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|2/14|c.-65delT|||||6681|INFO_REALIGN_3_PRIME,A|5_prime_UTR_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|3/15|c.-65delT|||||6681|INFO_REALIGN_3_PRIME,A|upstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320965.1|protein_coding||c.-50667delA|||||2244|,A|upstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_005336.5|protein_coding||c.-50667delA|||||1694|,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|2/13|c.88+997delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|1/12|c.-18+1942delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|1/13|c.-103+1570delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|2/13|c.73+1012delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|1/12|c.-18+1570delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|1/12|c.-18+1570delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,6:9:53:121,0,53
chr2	241320199	rs6745662	G	A	1386.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.52;SOR=2.2;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6745662;dbSNPBuildID=116;ANN=A|splice_region_variant&intron_variant|LOW|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|1/13|c.-102-4G>A||||||,A|upstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_001320965.1|protein_coding||c.-53330C>T|||||4907|,A|upstream_gene_variant|MODIFIER|HDLBP|HDLBP|transcript|NM_005336.5|protein_coding||c.-53330C>T|||||4357|,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|2/13|c.88+3644G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|2/13|c.-18+2600G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|1/12|c.-17-4017G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|4/16|c.-18+1855G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|2/13|c.73+3659G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|3/14|c.-18+2600G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|1/12|c.-17-4017G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|3/14|c.-18+2600G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|2/13|c.-18+2600G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|1/12|c.-17-4017G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|2/13|c.-18+2600G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|3/14|c.-18+2600G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=3807;p3_1000G_AF=0.760184;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.8617;p3_1000G_AN=5008;p3_1000G_DP=19879;p3_1000G_EAS_AF=0.7619;p3_1000G_EUR_AF=0.7783;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242259614;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1415,132,0
chr2	241324388	rs148452385;rs573936643;rs765717585	CTT	C	201.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.42;SOR=2.584;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs148452385;dbSNPBuildID=134,144,142;ANN=C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|3/13|c.114+163_114+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|3/13|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|2/12|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|3/13|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|5/16|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|3/13|c.99+163_99+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|4/14|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|2/12|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|4/14|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|3/13|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|2/12|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|3/13|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|4/14|c.9+163_9+164delTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3936;p3_1000G_AF=0.785942;p3_1000G_AFR_AF=0.7784;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=18646;p3_1000G_EAS_AF=0.8254;p3_1000G_EUR_AF=0.8002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242263803;p3_1000G_GRCH37_REF=CTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:21:211,21,0
chr2	241325858	rs4234100	C	T	53.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4234100;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|3/13|c.115-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|3/13|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|2/12|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|3/13|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|5/16|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|3/13|c.100-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|4/14|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|2/12|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|4/14|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|3/13|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|2/12|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|3/13|c.10-135C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|4/14|c.10-135C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2877;p3_1000G_AF=0.574481;p3_1000G_AFR_AF=0.3669;p3_1000G_AMR_AF=0.6744;p3_1000G_AN=5008;p3_1000G_DP=17707;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.5328;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242265273;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6329;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:81,6,0
chr2	241336164	rs41266959	G	A	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.041;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.748;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41266959;dbSNPBuildID=127;ANN=A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|6/13|c.446+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|6/13|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|5/12|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|6/13|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|9/16|c.371+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|6/13|c.431+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|7/14|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|5/12|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|7/14|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|6/13|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|5/12|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|6/13|c.341+66G>A||||||,A|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|7/14|c.341+66G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=450;p3_1000G_AF=0.0898562;p3_1000G_AFR_AF=0.0061;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=18218;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242275579;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.09;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,5:11:99:155,0,152
chr2	241343656	rs6750169	C	T	648.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.44;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6750169;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|9/13|c.802-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|9/13|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|8/12|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|9/13|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|12/16|c.727-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|9/13|c.787-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|10/14|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|8/12|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|10/14|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|9/13|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|8/12|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|9/13|c.697-96C>T||||||,T|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|10/14|c.697-96C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3834;p3_1000G_AF=0.765575;p3_1000G_AFR_AF=0.7496;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=19796;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.8002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242283071;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:677,60,0
chr2	241343679	rs6707518	A	G	908.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.95;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6707518;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|9/13|c.802-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|9/13|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|8/12|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|9/13|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|12/16|c.727-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|9/13|c.787-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|10/14|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|8/12|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|10/14|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|9/13|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|8/12|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|9/13|c.697-73A>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|10/14|c.697-73A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3540;p3_1000G_AF=0.706869;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=19277;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.8002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242283094;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:937,78,0
chr2	241348072	rs12619647	T	G	693.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.91;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12619647;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|11/13|c.1032-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|11/13|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|10/12|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|11/13|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|14/16|c.957-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|11/13|c.1017-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|12/14|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|10/12|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|12/14|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|11/13|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|10/12|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|11/13|c.927-62T>G||||||,G|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|12/14|c.927-62T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1992;p3_1000G_AF=0.397764;p3_1000G_AFR_AF=0.1619;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=17607;p3_1000G_EAS_AF=0.6657;p3_1000G_EUR_AF=0.3231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242287487;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=38,1346;ESP6500_AA_GTC=8,22,662;ESP6500_CDS_SIZES=NM_006155.1:1086,NM_004404.3:1086,NM_001008492.1:1086,NM_001008491.1:1086;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=46;ESP6500_EA_AC=336,2846;ESP6500_EA_GTC=127,82,1382;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006155.1:intron,NM_004404.3:intron,NM_001008492.1:intron,NM_001008491.1:intron;ESP6500_GL=SEPT2;ESP6500_GRCh38_POSITION=2:241348072;ESP6500_GTC=135,104,2044;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_006155.1:c.927-62T>G,NM_004404.3:c.927-62T>G,NM_001008492.1:c.927-62T>G,NM_001008491.1:c.927-62T>G;ESP6500_MAF=10.5594,2.7457,8.191;ESP6500_TAC=374,4192	GT:AD:DP:GQ:PL	1/1:0,24:24:78:722,78,0
chr2	241350248	rs3217007;rs397722876	C	CATT	763.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.29;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3217007;dbSNPBuildID=106,138;ANN=CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282972.1|protein_coding|13/13|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008491.2|protein_coding|13/13|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_006155.2|protein_coding|12/12|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001008492.2|protein_coding|13/13|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001282973.1|protein_coding|16/16|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321029.1|protein_coding|13/13|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321031.1|protein_coding|14/14|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321032.1|protein_coding|12/12|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321034.1|protein_coding|14/14|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321035.1|protein_coding|13/13|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_004404.4|protein_coding|12/12|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321030.1|protein_coding|13/13|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME,CATT|intron_variant|MODIFIER|SEPT2|SEPT2|transcript|NM_001321033.1|protein_coding|14/14|c.*29+46_*29+48dupATT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3844;p3_1000G_AF=0.767572;p3_1000G_AFR_AF=0.7526;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=17861;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242289663;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:801,54,0
chr2	241373062	rs201276541	G	GT	46.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.775;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.46;ReadPosRankSum=-1.231;SOR=2.066;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201276541;dbSNPBuildID=137;ANN=GT|splice_region_variant&intron_variant|LOW|FARP2|FARP2|transcript|NM_014808.3|protein_coding|1/26|c.-24-9dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|FARP2|FARP2|transcript|NM_001282983.1|protein_coding|1/17|c.-24-9dupT||||||INFO_REALIGN_3_PRIME,GT|splice_region_variant&intron_variant|LOW|FARP2|FARP2|transcript|NM_001282984.1|protein_coding|1/17|c.-24-9dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:13,6:19:84:84,0,283
chr2	241413167	rs3815262	A	T	47.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.87;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3815262;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_014808.3|protein_coding|6/26|c.509-140A>T||||||,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282983.1|protein_coding|6/17|c.509-140A>T||||||,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282984.1|protein_coding|6/17|c.509-140A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1029;p3_1000G_AF=0.205471;p3_1000G_AFR_AF=0.1074;p3_1000G_AMR_AF=0.415;p3_1000G_AN=5008;p3_1000G_DP=17209;p3_1000G_EAS_AF=0.251;p3_1000G_EUR_AF=0.1501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242352582;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:75,6,0
chr2	241434943	rs16843671	T	C	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.49;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.315;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=-2.337;SOR=1.919;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs16843671;dbSNPBuildID=123;ANN=C|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_014808.3|protein_coding|10/26|c.1032-19T>C||||||,C|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282983.1|protein_coding|10/17|c.1032-19T>C||||||,C|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282984.1|protein_coding|10/17|c.1032-19T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1055;p3_1000G_AF=0.210663;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=15867;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.1899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242374358;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2454;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=454,3948;ESP6500_AA_AGE=203.8+/-226.2;ESP6500_AA_GTC=30,394,1777;ESP6500_CDS_SIZES=NM_014808.2:3165;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=63;ESP6500_EA_AC=1585,7011;ESP6500_EA_AGE=289.2+/-299.1;ESP6500_EA_GTC=148,1289,2861;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014808.2:intron;ESP6500_GL=FARP2;ESP6500_GRCh38_POSITION=2:241434943;ESP6500_GTC=178,1683,4638;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014808.2:c.1032-19T>C;ESP6500_MAF=18.4388,10.3135,15.687;ESP6500_TAC=2039,10959	GT:AD:DP:GQ:PL	0/1:12,5:17:99:152,0,268
chr2	241456672	rs2074774	A	T	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.558;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=1.03;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2074774;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_014808.3|protein_coding|13/26|c.1412-75A>T||||||,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282983.1|protein_coding|13/17|c.1412-75A>T||||||,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282984.1|protein_coding|13/17|c.1412-75A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1551;p3_1000G_AF=0.309704;p3_1000G_AFR_AF=0.2322;p3_1000G_AMR_AF=0.5591;p3_1000G_AN=5008;p3_1000G_DP=17555;p3_1000G_EAS_AF=0.248;p3_1000G_EUR_AF=0.3748;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242396087;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:206,0,100
chr2	241462647	rs4675811	A	T	285.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.075;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.19;SOR=1.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675811;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_014808.3|protein_coding|15/26|c.1677+35A>T||||||,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282983.1|protein_coding|15/17|c.1677+35A>T||||||,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282984.1|protein_coding|15/17|c.1677+35A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1095;p3_1000G_AF=0.21865;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=20891;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.1481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242402062;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=575,3831;ESP6500_AA_GTC=62,451,1690;ESP6500_CDS_SIZES=NM_014808.2:3165;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=36;ESP6500_EA_AC=1133,7467;ESP6500_EA_GTC=107,919,3274;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014808.2:intron;ESP6500_GL=FARP2;ESP6500_GRCh38_POSITION=2:241462647;ESP6500_GTC=169,1370,4964;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_014808.2:c.1677+35A>T;ESP6500_MAF=13.1744,13.0504,13.1324;ESP6500_TAC=1708,11298	GT:AD:DP:GQ:PL	0/1:14,12:26:99:314,0,317
chr2	241465606	rs2240482	C	T	926.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.501;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=2.679;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.974;SOR=0.427;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2240482;dbSNPBuildID=98;ANN=T|3_prime_UTR_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282983.1|protein_coding|18/18|c.*96C>T|||||96|,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_014808.3|protein_coding|17/26|c.1893+1626C>T||||||,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282984.1|protein_coding|17/17|c.1894-68C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1142;p3_1000G_AF=0.228035;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=21069;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.2286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242405021;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:58,42:100:99:955,0,1557
chr2	241468052	rs55764424	C	T	260.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.651;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.187;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55764424;dbSNPBuildID=129;ANN=T|downstream_gene_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282983.1|protein_coding||c.*2542C>T|||||2016|,T|downstream_gene_variant|MODIFIER|FARP2|FARP2|transcript|NM_001282984.1|protein_coding||c.*2355C>T|||||2016|,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_014808.3|protein_coding|17/26|c.1894-88C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=638;p3_1000G_AF=0.127396;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=17170;p3_1000G_EAS_AF=0.1151;p3_1000G_EUR_AF=0.1451;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242407467;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:289,0,305
chr2	241476108	rs73006397	C	T	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.887;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73006397;dbSNPBuildID=130;ANN=T|upstream_gene_variant|MODIFIER|MIR3133|MIR3133|transcript|NR_036083.1|pseudogene||n.-1797C>T|||||1797|,T|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_014808.3|protein_coding|19/26|c.2262+121C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1143;p3_1000G_AF=0.228235;p3_1000G_AFR_AF=0.1157;p3_1000G_AMR_AF=0.1398;p3_1000G_AN=5008;p3_1000G_DP=17330;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.2286;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242415523;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:99:136,0,107
chr2	241493289	rs2271030	G	C	470.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.194;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0;SOR=0.765;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271030;dbSNPBuildID=100;ANN=C|splice_region_variant&intron_variant|LOW|FARP2|FARP2|transcript|NM_014808.3|protein_coding|25/26|c.2896-4G>C||||||,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001271977.1|protein_coding||c.*2373C>G|||||1418|,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001271978.1|protein_coding||c.*2373C>G|||||1418|,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001271979.1|protein_coding||c.*2373C>G|||||1418|,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001271980.1|protein_coding||c.*2373C>G|||||1418|,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001282306.1|protein_coding||c.*2373C>G|||||1418|,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001282307.1|protein_coding||c.*2373C>G|||||1418|,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001282308.1|protein_coding||c.*2373C>G|||||1418|,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_006374.4|protein_coding||c.*2373C>G|||||1418|,C|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001282305.1|protein_coding||c.*2373C>G|||||1418|;p3_1000G_AA=C|||;p3_1000G_AC=1571;p3_1000G_AF=0.313698;p3_1000G_AFR_AF=0.2337;p3_1000G_AMR_AF=0.5663;p3_1000G_AN=5008;p3_1000G_DP=19739;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.3857;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242432704;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1185,3221;ESP6500_AA_AGE=708.2+/-407.6;ESP6500_AA_GTC=163,859,1181;ESP6500_CDS_SIZES=NM_014808.2:3165;ESP6500_CG=-2.0;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=51;ESP6500_EA_AC=3126,5474;ESP6500_EA_AGE=656.2+/-401.3;ESP6500_EA_GTC=563,2000,1737;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014808.2:intron;ESP6500_GL=FARP2;ESP6500_GRCh38_POSITION=2:241493289;ESP6500_GTC=726,2859,2918;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014808.2:c.2896-4G>C;ESP6500_MAF=36.3488,26.8951,33.1462;ESP6500_TAC=4311,8695	GT:AD:DP:GQ:PL	0/1:11,17:28:99:499,0,317
chr2	241493933	rs2018761	A	G	1491.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.44;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2018761;dbSNPBuildID=92;ANN=G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001271977.1|protein_coding||c.*1729T>C|||||774|,G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001271978.1|protein_coding||c.*1729T>C|||||774|,G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001271979.1|protein_coding||c.*1729T>C|||||774|,G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001271980.1|protein_coding||c.*1729T>C|||||774|,G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001282306.1|protein_coding||c.*1729T>C|||||774|,G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001282307.1|protein_coding||c.*1729T>C|||||774|,G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001282308.1|protein_coding||c.*1729T>C|||||774|,G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_006374.4|protein_coding||c.*1729T>C|||||774|,G|downstream_gene_variant|MODIFIER|STK25|STK25|transcript|NM_001282305.1|protein_coding||c.*1729T>C|||||774|,G|intron_variant|MODIFIER|FARP2|FARP2|transcript|NM_014808.3|protein_coding|26/26|c.3048-75A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4090;p3_1000G_AF=0.816693;p3_1000G_AFR_AF=0.7927;p3_1000G_AMR_AF=0.8703;p3_1000G_AN=5008;p3_1000G_DP=18928;p3_1000G_EAS_AF=0.9435;p3_1000G_EUR_AF=0.8131;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242433348;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1520,147,0
chr2	241503962	rs35172632	G	A	263.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.036;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.828;SOR=0.784;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35172632;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_001271977.1|protein_coding|2/11|c.31-2254C>T||||||,A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_001271978.1|protein_coding|1/10|c.31-2254C>T||||||,A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_001271979.1|protein_coding|2/10|c.31-3166C>T||||||,A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_001271980.1|protein_coding|2/10|c.31-3166C>T||||||,A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_001282306.1|protein_coding|2/11|c.-142-2254C>T||||||,A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_001282307.1|protein_coding|1/10|c.-252-2254C>T||||||,A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_001282308.1|protein_coding|1/10|c.-252-2254C>T||||||,A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_006374.4|protein_coding|2/11|c.31-2254C>T||||||,A|intron_variant|MODIFIER|STK25|STK25|transcript|NM_001282305.1|protein_coding|1/10|c.-252-2254C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1365;p3_1000G_AF=0.272564;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=18539;p3_1000G_EAS_AF=0.5833;p3_1000G_EUR_AF=0.2316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242443377;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,13:28:99:292,0,404
chr2	241569995	rs77499010	C	T	744.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.815;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.629;SOR=0.578;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77499010;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|BOK|BOK|transcript|NM_032515.4|protein_coding|3/4|c.350-130C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=308;p3_1000G_AF=0.0615016;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=19351;p3_1000G_EAS_AF=0.1865;p3_1000G_EUR_AF=0.0169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242509410;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0521;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,27:57:99:773,0,914
chr2	241584818	rs535635954	C	T	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.464;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.199;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-1.302;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_015963.5|protein_coding|5/5|c.1615-93G>A||||||,T|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_001164356.1|protein_coding|4/4|c.379-93G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=21497;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242524233;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:219,0,304
chr2	241602883	rs6437269	T	C	619.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.18;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.99;ReadPosRankSum=0.803;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6437269;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_015963.5|protein_coding|4/5|c.1510+87A>G||||||,C|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_001164356.1|protein_coding|3/4|c.274+87A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=1994;p3_1000G_AF=0.398163;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.3415;p3_1000G_AN=5008;p3_1000G_DP=16532;p3_1000G_EAS_AF=0.4306;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242542298;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,15:20:99:0|1:241602883_T_C:648,0,348
chr2	241602889	rs149599823	T	C	657.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.49;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=29.9;ReadPosRankSum=0.045;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149599823;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_015963.5|protein_coding|4/5|c.1510+81A>G||||||,C|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_001164356.1|protein_coding|3/4|c.274+81A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=73;p3_1000G_AF=0.0145767;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16465;p3_1000G_EAS_AF=0.0724;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242542304;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,16:22:99:0|1:241602883_T_C:686,0,345
chr2	241617317	rs7580021	G	A	115.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.134;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.51;ReadPosRankSum=-0.399;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7580021;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_015963.5|protein_coding|2/5|c.1241-10844C>T||||||,A|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_001164356.1|protein_coding|1/4|c.4+95C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1985;p3_1000G_AF=0.396366;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.3415;p3_1000G_AN=5008;p3_1000G_DP=14833;p3_1000G_EAS_AF=0.4216;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242556732;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4867;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,7:21:99:144,0,357
chr2	241632847	rs112423548	G	A	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.164;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.138;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112423548;dbSNPBuildID=132;ANN=A|upstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.-4868G>A|||||4765|,A|upstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.-4868G>A|||||4765|,A|intron_variant|MODIFIER|THAP4|THAP4|transcript|NM_015963.5|protein_coding|2/5|c.1240+70C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=388;p3_1000G_AF=0.077476;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.0432;p3_1000G_AN=5008;p3_1000G_DP=21873;p3_1000G_EAS_AF=0.0853;p3_1000G_EUR_AF=0.0696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242572262;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:210,0,145
chr2	241633431	rs3208142	A	G	847.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.6;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=0.822;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.547;SOR=0.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3208142;dbSNPBuildID=105;ANN=G|synonymous_variant|LOW|THAP4|THAP4|transcript|NM_015963.5|protein_coding|2/6|c.726T>C|p.Ser242Ser|1019/2228|726/1734|242/577||,G|upstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.-4284A>G|||||4181|,G|upstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.-4284A>G|||||4181|;p3_1000G_AA=G|||;p3_1000G_AC=2144;p3_1000G_AF=0.428115;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=19156;p3_1000G_EAS_AF=0.5665;p3_1000G_EUR_AF=0.3181;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242572846;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1638,2768;ESP6500_AA_AGE=657.4+/-400.2;ESP6500_AA_GTC=300,1038,865;ESP6500_CDS_SIZES=NM_015963.5:1734;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=76;ESP6500_EA_AC=2586,6006;ESP6500_EA_AGE=687.2+/-404.2;ESP6500_EA_GTC=410,1766,2120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015963.5:coding-synonymous;ESP6500_GL=THAP4;ESP6500_GRCh38_POSITION=2:241633431;ESP6500_GTC=710,2804,2985;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015963.5:c.726T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015963.5:p.(S242);ESP6500_MAF=30.0978,37.1766,32.4973;ESP6500_TAC=4224,8774	GT:AD:DP:GQ:PL	0/1:58,33:91:99:876,0,1450
chr2	241633796	rs7424328	T	C	1795.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.25;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7424328;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|THAP4|THAP4|transcript|NM_015963.5|protein_coding|2/6|c.361A>G|p.Ser121Gly|654/2228|361/1734|121/577||,C|upstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.-3919T>C|||||3816|,C|upstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.-3919T>C|||||3816|;p3_1000G_AA=C|||;p3_1000G_AC=3055;p3_1000G_AF=0.610024;p3_1000G_AFR_AF=0.5257;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=18238;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242573211;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2226,2180;ESP6500_AA_AGE=580.5+/-385.1;ESP6500_AA_GTC=555,1116,532;ESP6500_CDS_SIZES=NM_015963.5:1734;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=74;ESP6500_EA_AC=3893,4699;ESP6500_EA_AGE=602.4+/-394.5;ESP6500_EA_GTC=893,2107,1296;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015963.5:missense;ESP6500_GL=THAP4;ESP6500_GRCh38_POSITION=2:241633796;ESP6500_GS=56;ESP6500_GTC=1448,3223,1828;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015963.5:c.361A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015963.5:p.(S121G);ESP6500_MAF=45.3096,49.478,47.0765;ESP6500_PH=benign:0.0;ESP6500_TAC=6119,6879	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1824,162,0
chr2	241637607	rs4675796	C	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.795;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-0.718;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675796;dbSNPBuildID=111;ANN=T|upstream_gene_variant|MODIFIER|THAP4|THAP4|transcript|NM_015963.5|protein_coding||c.-590G>A|||||297|,T|upstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.-108C>T|||||5|,T|upstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.-108C>T|||||5|,T|intergenic_region|MODIFIER|THAP4-ATG4B|THAP4-ATG4B|intergenic_region|THAP4-ATG4B|||n.241637607C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1031;p3_1000G_AF=0.205871;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=8671;p3_1000G_EAS_AF=0.3373;p3_1000G_EUR_AF=0.1272;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242577022;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1043;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:96:96,0,220
chr2	241650923	rs35731596	A	G	233.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.756;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-1.299;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35731596;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|1/12|c.11-87A>G||||||,G|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|1/12|c.11-87A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=756;p3_1000G_AF=0.150958;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=22193;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242590338;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,11:28:99:262,0,479
chr2	241653176	rs140992207	A	G	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.772;SOR=0.668;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140992207;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|3/12|c.185-336A>G||||||,G|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|3/12|c.185-336A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=335;p3_1000G_AF=0.066893;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=23338;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.0169;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242592591;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,15:26:99:450,0,310
chr2	241653699	rs4567973	A	G	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.09;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=0;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4567973;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|4/12|c.283+89A>G||||||,G|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|4/12|c.283+89A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=770;p3_1000G_AF=0.153754;p3_1000G_AFR_AF=0.2587;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=19054;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.1759;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242593114;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,4:10:99:105,0,190
chr2	241654683	rs147597708	G	A	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.073;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.017;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.172;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147597708;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|5/12|c.385+36G>A||||||,A|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|5/12|c.385+36G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=515;p3_1000G_AF=0.102835;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.1268;p3_1000G_AN=5008;p3_1000G_DP=16166;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.0229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242594098;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0593;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=30,3886;ESP6500_AA_GTC=0,30,1928;ESP6500_CDS_SIZES=NM_178326.2:1143,NM_013325.4:1182;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=24;ESP6500_EA_AC=15,8209;ESP6500_EA_GTC=0,15,4097;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178326.2:intron,NM_013325.4:intron;ESP6500_GL=ATG4B;ESP6500_GRCh38_POSITION=2:241654683;ESP6500_GTC=0,45,6025;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178326.2:c.385+36G>A,NM_013325.4:c.385+36G>A;ESP6500_MAF=0.1824,0.7661,0.3707;ESP6500_TAC=45,12095	GT:AD:DP:GQ:PL	0/1:9,10:19:99:261,0,246
chr2	241666527	rs148214056	G	A	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.119;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.713;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.607;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs148214056;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|7/12|c.539-118G>A||||||,A|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|7/12|c.539-118G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=229;p3_1000G_AF=0.0457268;p3_1000G_AFR_AF=0.0348;p3_1000G_AMR_AF=0.0259;p3_1000G_AN=5008;p3_1000G_DP=20306;p3_1000G_EAS_AF=0.0893;p3_1000G_EUR_AF=0.0467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242605942;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0286;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,15:33:99:380,0,544
chr2	241666547	rs4675930	C	T	554.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.332;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.368;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.365;SOR=0.455;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675930;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|7/12|c.539-98C>T||||||,T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|7/12|c.539-98C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1009;p3_1000G_AF=0.201478;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=20189;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242605962;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,23:40:99:583,0,471
chr2	241666621	rs6709768	G	C	1104.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.475;ClippingRankSum=0;DP=84;ExcessHet=3.0103;FS=0.825;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.277;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6709768;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|7/12|c.539-24G>C||||||,C|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|7/12|c.539-24G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1696;p3_1000G_AF=0.338658;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=19699;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.4304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242606036;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1400,2800;ESP6500_AA_GTC=237,926,937;ESP6500_CDS_SIZES=NM_178326.2:1143,NM_013325.4:1182;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=23;ESP6500_EA_AC=3527,4891;ESP6500_EA_GTC=759,2009,1441;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178326.2:intron,NM_013325.4:intron;ESP6500_GL=ATG4B;ESP6500_GRCh38_POSITION=2:241666621;ESP6500_GTC=996,2935,2378;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_178326.2:c.539-24G>C,NM_013325.4:c.539-24G>C;ESP6500_MAF=41.8983,33.3333,39.0474;ESP6500_TAC=4927,7691	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1133,0,1111
chr2	241666718	rs140059812	C	T	926.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.184;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0.814;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.917;SOR=0.598;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs140059812;dbSNPBuildID=134;ANN=T|synonymous_variant|LOW|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|8/13|c.612C>T|p.Asn204Asn|715/2877|612/1182|204/393||,T|synonymous_variant|LOW|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|8/13|c.612C>T|p.Asn204Asn|715/2897|612/1143|204/380||;p3_1000G_AA=C|||;p3_1000G_AC=56;p3_1000G_AF=0.0111821;p3_1000G_AFR_AF=0.0227;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=17374;p3_1000G_EAS_AF=0.0248;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242606133;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=76,4178;ESP6500_AA_GTC=1,74,2052;ESP6500_CDS_SIZES=NM_178326.2:1143,NM_013325.4:1182;ESP6500_CG=-8.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=37;ESP6500_EA_AC=0,8454;ESP6500_EA_GTC=0,0,4227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178326.2:coding-synonymous,NM_013325.4:coding-synonymous;ESP6500_GL=ATG4B;ESP6500_GRCh38_POSITION=2:241666718;ESP6500_GTC=1,74,6279;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_178326.2:c.612C>T,NM_013325.4:c.612C>T;ESP6500_HGVS_PROTEIN_VAR=NM_178326.2:p.(N204),NM_013325.4:p.(N204);ESP6500_MAF=0.0,1.7866,0.598;ESP6500_TAC=76,12632	GT:AD:DP:GQ:PL	0/1:45,40:85:99:955,0,1163
chr2	241668036	rs62190299	T	C	119.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=-0.566;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62190299;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|8/12|c.733-107T>C||||||,C|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|8/12|c.733-107T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1029;p3_1000G_AF=0.205471;p3_1000G_AFR_AF=0.0794;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=18558;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242607451;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:65:148,0,65
chr2	241668068	rs7565540	G	T	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.652;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.283;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7565540;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|8/12|c.733-75G>T||||||,T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|8/12|c.733-75G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=17298;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242607483;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,8:15:99:0|1:241668068_G_T:312,0,291
chr2	241668069	rs7592829	C	T	283.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.427;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.164;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7592829;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|8/12|c.733-74C>T||||||,T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|8/12|c.733-74C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=17309;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.4314;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242607484;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,8:16:99:0|1:241668068_G_T:312,0,291
chr2	241668509	rs62190301	A	G	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=77;ExcessHet=3.0103;FS=5.152;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.077;SOR=1.371;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62190301;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|9/12|c.812-31A>G||||||,G|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|9/12|c.812-31A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1027;p3_1000G_AF=0.205072;p3_1000G_AFR_AF=0.0809;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=15055;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242607924;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=401,3733;ESP6500_AA_GTC=21,359,1687;ESP6500_CDS_SIZES=NM_178326.2:1143,NM_013325.4:1182;ESP6500_CG=-7.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=11;ESP6500_EA_AC=1727,6601;ESP6500_EA_GTC=202,1323,2639;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178326.2:intron,NM_013325.4:intron;ESP6500_GL=ATG4B;ESP6500_GRCh38_POSITION=2:241668509;ESP6500_GTC=223,1682,4326;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_178326.2:c.812-31A>G,NM_013325.4:c.812-31A>G;ESP6500_MAF=20.7373,9.7,17.0759;ESP6500_TAC=2128,10334	GT:AD:DP:GQ:PL	0/1:49,27:76:99:644,0,1353
chr2	241668766	rs201704778	G	GC	303.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.367;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=-0.883;SOR=0.347;INS;HET;VARTYPE=INS;dbSNP138_ID=rs201704778;dbSNPBuildID=137;ANN=GC|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|10/12|c.957+82dupC||||||INFO_REALIGN_3_PRIME,GC|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|10/12|c.957+82dupC||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=C|C|CC|insertion;p3_1000G_AC=331;p3_1000G_AF=0.0660942;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=20538;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.0209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242608181;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:35,18:53:99:341,0,1680
chr2	241668768	rs138595453	G	T	931.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.533;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=4.77;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-0.749;SOR=0.239;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138595453;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|10/12|c.957+83G>T||||||,T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|10/12|c.957+83G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=331;p3_1000G_AF=0.0660942;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=19837;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.0209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242608183;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:30,21:51:99:960,0,1535
chr2	241670577	rs35803955	T	C	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.646;SOR=1.071;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35803955;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|10/12|c.958-149T>C||||||,C|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|10/12|c.958-149T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1023;p3_1000G_AF=0.204273;p3_1000G_AFR_AF=0.0779;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=17233;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242609992;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,12:26:99:377,0,410
chr2	241670838	rs35454903	T	C	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.42;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.552;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35454903;dbSNPBuildID=126;ANN=C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding||c.*5289A>G|||||4904|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding||c.*5289A>G|||||4904|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding||c.*5289A>G|||||4904|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding||c.*7637A>G|||||4904|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding||c.*5289A>G|||||4904|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding||c.*5289A>G|||||4904|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene||n.*4904A>G|||||4904|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene||n.*4904A>G|||||4904|,C|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|11/12|c.1014+56T>C||||||,C|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|11/12|c.1014+56T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1128;p3_1000G_AF=0.22524;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=17321;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242610253;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2751;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=130,1254;ESP6500_AA_GTC=5,120,567;ESP6500_CDS_SIZES=NM_178326.2:1143,NM_013325.4:1182;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=44;ESP6500_EA_AC=865,2317;ESP6500_EA_GTC=121,623,847;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178326.2:intron,NM_013325.4:intron;ESP6500_GL=ATG4B;ESP6500_GRCh38_POSITION=2:241670838;ESP6500_GTC=126,743,1414;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178326.2:c.1014+56T>C,NM_013325.4:c.1014+56T>C;ESP6500_MAF=27.1842,9.3931,21.7915;ESP6500_TAC=995,3571	GT:AD:DP:GQ:PL	0/1:15,14:29:99:377,0,356
chr2	241671225	rs112749497	C	T	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.272;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.842;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=1.04;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112749497;dbSNPBuildID=132;ANN=T|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding||c.*4902G>A|||||4517|,T|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding||c.*4902G>A|||||4517|,T|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding||c.*4902G>A|||||4517|,T|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding||c.*7250G>A|||||4517|,T|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding||c.*4902G>A|||||4517|,T|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding||c.*4902G>A|||||4517|,T|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene||n.*4517G>A|||||4517|,T|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene||n.*4517G>A|||||4517|,T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|11/12|c.1015-87C>T||||||,T|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|11/12|c.1015-87C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=336;p3_1000G_AF=0.0670927;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=20846;p3_1000G_EAS_AF=0.1915;p3_1000G_EUR_AF=0.0209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242610640;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,5:17:99:147,0,365
chr2	241671323	rs11538896	T	C	289.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.18;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.3;ReadPosRankSum=-0.075;SOR=0.656;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11538896;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|12/13|c.1026T>C|p.Leu342Leu|1129/2877|1026/1182|342/393||,C|synonymous_variant|LOW|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|12/13|c.1026T>C|p.Leu342Leu|1129/2897|1026/1143|342/380||,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding||c.*4804A>G|||||4419|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding||c.*4804A>G|||||4419|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding||c.*4804A>G|||||4419|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding||c.*7152A>G|||||4419|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding||c.*4804A>G|||||4419|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding||c.*4804A>G|||||4419|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene||n.*4419A>G|||||4419|,C|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene||n.*4419A>G|||||4419|;p3_1000G_AA=C|||;p3_1000G_AC=1027;p3_1000G_AF=0.205072;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=19333;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.2336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242610738;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=413,3859;ESP6500_AA_GTC=23,367,1746;ESP6500_CDS_SIZES=NM_178326.2:1143,NM_013325.4:1182;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=69;ESP6500_EA_AC=1876,6578;ESP6500_EA_GTC=229,1418,2580;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178326.2:coding-synonymous,NM_013325.4:coding-synonymous;ESP6500_GL=ATG4B;ESP6500_GRCh38_POSITION=2:241671323;ESP6500_GTC=252,1785,4326;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_178326.2:c.1026T>C,NM_013325.4:c.1026T>C;ESP6500_HGVS_PROTEIN_VAR=NM_178326.2:p.(L342),NM_013325.4:p.(L342);ESP6500_MAF=22.1907,9.6676,17.9868;ESP6500_TAC=2289,10437	GT:AD:DP:GQ:PL	0/1:33,13:46:99:318,0,880
chr2	241671358	rs7601000	T	A	1823.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.9;SOR=0.725;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7601000;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|12/13|c.1061T>A|p.Leu354Gln|1164/2877|1061/1182|354/393||,A|missense_variant|MODERATE|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|12/13|c.1061T>A|p.Leu354Gln|1164/2897|1061/1143|354/380||,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding||c.*4769A>T|||||4384|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding||c.*4769A>T|||||4384|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding||c.*4769A>T|||||4384|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding||c.*7117A>T|||||4384|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding||c.*4769A>T|||||4384|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding||c.*4769A>T|||||4384|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene||n.*4384A>T|||||4384|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene||n.*4384A>T|||||4384|;p3_1000G_AA=A|||;p3_1000G_AC=4404;p3_1000G_AF=0.879393;p3_1000G_AFR_AF=0.9584;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=19243;p3_1000G_EAS_AF=0.8651;p3_1000G_EUR_AF=0.8082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242610773;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3985,305;ESP6500_AA_GTC=1855,275,15;ESP6500_CDS_SIZES=NM_178326.2:1143,NM_013325.4:1182;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=6658,1804;ESP6500_EA_GTC=2642,1374,215;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_178326.2:missense,NM_013325.4:missense;ESP6500_GL=ATG4B;ESP6500_GRCh38_POSITION=2:241671358;ESP6500_GS=113,113;ESP6500_GTC=4497,1649,230;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_178326.2:c.1061T>A,NM_013325.4:c.1061T>A;ESP6500_HGVS_PROTEIN_VAR=NM_178326.2:p.(L354Q),NM_013325.4:p.(L354Q);ESP6500_MAF=21.3188,7.1096,16.5386;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=10643,2109	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1852,183,0
chr2	241672132	rs34859751	G	A	57.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.451;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.218;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.85;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34859751;dbSNPBuildID=126;ANN=A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding||c.*3995C>T|||||3610|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding||c.*3995C>T|||||3610|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding||c.*3995C>T|||||3610|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding||c.*6343C>T|||||3610|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding||c.*3995C>T|||||3610|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding||c.*3995C>T|||||3610|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene||n.*3610C>T|||||3610|,A|downstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene||n.*3610C>T|||||3610|,A|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding|12/12|c.1109-59G>A||||||,A|intron_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding|12/12|c.1129-59G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=969;p3_1000G_AF=0.19349;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=17862;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242611547;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2444;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=117,1267;ESP6500_AA_GTC=5,107,580;ESP6500_CDS_SIZES=NM_178326.2:1143,NM_013325.4:1182;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=122;ESP6500_EA_AC=617,2565;ESP6500_EA_GTC=58,501,1032;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_178326.2:intron,NM_013325.4:intron;ESP6500_GL=ATG4B;ESP6500_GRCh38_POSITION=2:241672132;ESP6500_GTC=63,608,1612;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_178326.2:c.1129-59G>A,NM_013325.4:c.1109-59G>A;ESP6500_MAF=19.3903,8.4538,16.0753;ESP6500_TAC=734,3832	GT:AD:DP:GQ:PL	0/1:12,5:17:86:86,0,380
chr2	241676047	rs5860	T	C	353.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.12;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs5860;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|6/6|c.*80A>G|||||80|,C|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|5/5|c.*80A>G|||||80|,C|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|4/4|c.*80A>G|||||80|,C|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|4/4|c.*214A>G|||||2428|,C|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|5/5|c.*80A>G|||||80|,C|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|5/5|c.*80A>G|||||80|,C|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.*3783T>C|||||2191|,C|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.*3842T>C|||||2191|,C|non_coding_transcript_exon_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|4/4|n.813A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|5/5|n.866A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2728;p3_1000G_AF=0.544728;p3_1000G_AFR_AF=0.4372;p3_1000G_AMR_AF=0.7089;p3_1000G_AN=5008;p3_1000G_DP=15692;p3_1000G_EAS_AF=0.494;p3_1000G_EUR_AF=0.665;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242615462;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:27:382,27,0
chr2	241676057	rs3209844	G	A	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.213;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.431;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3209844;dbSNPBuildID=105;ANN=A|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|6/6|c.*70C>T|||||70|,A|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|5/5|c.*70C>T|||||70|,A|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|4/4|c.*70C>T|||||70|,A|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|4/4|c.*204C>T|||||2418|,A|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|5/5|c.*70C>T|||||70|,A|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|5/5|c.*70C>T|||||70|,A|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.*3793G>A|||||2201|,A|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.*3852G>A|||||2201|,A|non_coding_transcript_exon_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|4/4|n.803C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|5/5|n.856C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=985;p3_1000G_AF=0.196685;p3_1000G_AFR_AF=0.0537;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=15499;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.2316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242615472;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,7:10:79:222,0,79
chr2	241676113	rs34706919	TG	T	256.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.151;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=4.419;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.13;SOR=0.162;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34706919;dbSNPBuildID=126;ANN=T|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|6/6|c.*13delC|||||13|,T|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|5/5|c.*13delC|||||13|,T|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|4/4|c.*13delC|||||13|,T|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|4/4|c.*147delC|||||2361|,T|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|5/5|c.*13delC|||||13|,T|3_prime_UTR_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|5/5|c.*13delC|||||13|,T|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.*3850delG|||||2258|,T|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.*3909delG|||||2258|,T|non_coding_transcript_exon_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|4/4|n.746delC||||||,T|non_coding_transcript_exon_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|5/5|n.799delC||||||;p3_1000G_AA=GGG|GGG|GG|deletion;p3_1000G_AC=1083;p3_1000G_AF=0.216254;p3_1000G_AFR_AF=0.1225;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=17169;p3_1000G_EAS_AF=0.2927;p3_1000G_EUR_AF=0.2336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242615528;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=INDEL;ESP6500_AA_AC=569,3697;ESP6500_AA_GTC=41,487,1605;ESP6500_CDS_SIZES=NM_012145.3:639,NM_001165031.1:567;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=43;ESP6500_EA_AC=1865,6381;ESP6500_EA_GTC=236,1393,2494;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012145.3:utr-3,NM_001165031.1:utr-3;ESP6500_GL=DTYMK;ESP6500_GRCh38_POSITION=2:241676113;ESP6500_GTC=277,1880,4099;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_012145.3:c.*13del1,NM_001165031.1:c.*13del1;ESP6500_MAF=22.617,13.338,19.4533;ESP6500_TAC=2434,10078	GT:AD:DP:GQ:PL	0/1:11,10:21:99:294,0,328
chr2	241678377	rs4076640	A	G	771.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.56;SOR=3.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4076640;dbSNPBuildID=108;ANN=G|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.*6113A>G|||||4521|,G|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.*6172A>G|||||4521|,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|5/5|c.645+75T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|4/4|c.456+75T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|3/3|c.399+75T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|3/3|c.*23+75T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|4/4|c.471+75T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|4/4|c.528+75T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|3/3|n.622+75T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|4/4|n.675+75T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2727;p3_1000G_AF=0.544529;p3_1000G_AFR_AF=0.4357;p3_1000G_AMR_AF=0.7104;p3_1000G_AN=5008;p3_1000G_DP=17169;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.667;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242617792;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.502;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:800,69,0
chr2	241678436	rs4076639	A	G	683.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=0.376;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4076639;dbSNPBuildID=108;ANN=G|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.*6172A>G|||||4580|,G|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.*6231A>G|||||4580|,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|5/5|c.645+16T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|4/4|c.456+16T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|3/3|c.399+16T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|3/3|c.*23+16T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|4/4|c.471+16T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|4/4|c.528+16T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|3/3|n.622+16T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|4/4|n.675+16T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1030;p3_1000G_AF=0.205671;p3_1000G_AFR_AF=0.0817;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=17942;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.2336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242617851;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=448,3958;ESP6500_AA_AGE=213.1+/-232.8;ESP6500_AA_GTC=23,402,1778;ESP6500_CDS_SIZES=NM_012145.3:639,NM_001165031.1:567;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=85;ESP6500_EA_AC=1933,6659;ESP6500_EA_AGE=342.8+/-324.6;ESP6500_EA_GTC=240,1453,2603;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012145.3:intron,NM_001165031.1:intron;ESP6500_GL=DTYMK;ESP6500_GRCh38_POSITION=2:241678436;ESP6500_GTC=263,1855,4381;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012145.3:c.528+16T>C,NM_001165031.1:c.456+16T>C;ESP6500_MAF=22.4977,10.168,18.3182;ESP6500_TAC=2381,10617	GT:AD:DP:GQ:PL	0/1:15,22:37:99:712,0,378
chr2	241678635	rs1131195	A	G	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-0.713;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1131195;dbSNPBuildID=102;ANN=G|synonymous_variant|LOW|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|5/6|c.462T>C|p.Asp154Asp|647/1326|462/756|154/251||,G|synonymous_variant|LOW|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|3/4|c.216T>C|p.Asp72Asp|401/1080|216/510|72/169||,G|synonymous_variant|LOW|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|4/5|c.288T>C|p.Asp96Asp|473/1152|288/582|96/193||,G|synonymous_variant|LOW|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|4/5|c.345T>C|p.Asp115Asp|530/1209|345/639|115/212||,G|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_013325.4|protein_coding||c.*6371A>G|||||4779|,G|downstream_gene_variant|MODIFIER|ATG4B|ATG4B|transcript|NM_178326.2|protein_coding||c.*6430A>G|||||4779|,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|3/4|c.331-58T>C||||||,G|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|2/3|c.240-58T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|3/4|n.439T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|4/5|n.492T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1703;p3_1000G_AF=0.340056;p3_1000G_AFR_AF=0.357;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=17644;p3_1000G_EAS_AF=0.1994;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242618050;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2536;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1510,2896;ESP6500_AA_AGE=478.8+/-358.3;ESP6500_AA_GTC=252,1006,945;ESP6500_CDS_SIZES=NM_012145.3:639,NM_001165031.1:567;ESP6500_CG=-5.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=45;ESP6500_EA_AC=3658,4934;ESP6500_EA_AGE=521.5+/-379.9;ESP6500_EA_GTC=806,2046,1444;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012145.3:coding-synonymous,NM_001165031.1:intron;ESP6500_GL=DTYMK;ESP6500_GRCh38_POSITION=2:241678635;ESP6500_GTC=1058,3052,2389;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_012145.3:c.345T>C,NM_001165031.1:c.331-58T>C;ESP6500_HGVS_PROTEIN_VAR=NM_012145.3:p.(D115),.;ESP6500_MAF=42.5745,34.2714,39.76;ESP6500_TAC=5168,7830	GT:AD:DP:GQ:PL	0/1:42,19:61:99:477,0,1023
chr2	241680408	rs112883255	G	C	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.028;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.576;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-1.145;SOR=1.051;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112883255;dbSNPBuildID=132;ANN=C|sequence_feature|LOW|DTYMK|DTYMK|helix:combinatorial_evidence_used_in_manual_assertion|NM_001165031.1|protein_coding|2/4|c.240-89C>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|3/5|c.357-89C>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|2/4|c.240-89C>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|2/3|c.202-1759C>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|2/3|c.240-1831C>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|3/4|c.274-1759C>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|2/4|c.240-89C>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|2/3|n.425-1759C>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|2/4|n.387-89C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=339;p3_1000G_AF=0.0676917;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=20117;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.0209;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242619823;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,12:27:99:288,0,368
chr2	241682777	rs35052478	A	AG	48.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.03;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=0.439;SOR=1.27;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35052478;dbSNPBuildID=126;ANN=AG|sequence_feature|LOW|DTYMK|DTYMK|helix:combinatorial_evidence_used_in_manual_assertion|NM_001165031.1|protein_coding|2/4|c.240-2459dupC||||||,AG|upstream_gene_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding||c.-7834_-7833insG|||||4234|,AG|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|3/5|c.356+21dupC||||||,AG|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|2/4|c.240-2459dupC||||||,AG|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|2/3|c.201+3029dupC||||||,AG|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|2/3|c.239+2991dupC||||||,AG|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|3/4|c.273+1938dupC||||||,AG|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|2/4|c.240-2459dupC||||||,AG|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|2/3|n.424+2991dupC||||||,AG|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|2/4|n.387-2459dupC||||||;p3_1000G_AA=G|G|GG|insertion;p3_1000G_AC=1725;p3_1000G_AF=0.344449;p3_1000G_AFR_AF=0.3601;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=17915;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.4364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242622192;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,3:8:86:86,0,163
chr2	241682911	rs4347866	T	C	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.991;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=1.33;SOR=1.245;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4347866;dbSNPBuildID=130;ANN=C|missense_variant|MODERATE|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|3/6|c.244A>G|p.Ile82Val|429/1326|244/756|82/251||,C|sequence_feature|LOW|DTYMK|DTYMK|helix:combinatorial_evidence_used_in_manual_assertion|NM_001165031.1|protein_coding|2/4|c.240-2592A>G||||||,C|upstream_gene_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding||c.-7700T>C|||||4101|,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|2/4|c.240-2592A>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|2/3|c.201+2896A>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|2/3|c.239+2858A>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|3/4|c.273+1805A>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|2/4|c.240-2592A>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|2/3|n.424+2858A>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|2/4|n.387-2592A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1726;p3_1000G_AF=0.344649;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=20193;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.4364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242622326;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2566;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,6:15:99:127,0,239
chr2	241682955	rs35815994	A	C	152.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35815994;dbSNPBuildID=126;ANN=C|sequence_feature|LOW|DTYMK|DTYMK|helix:combinatorial_evidence_used_in_manual_assertion|NM_001165031.1|protein_coding|2/4|c.240-2636T>G||||||,C|upstream_gene_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding||c.-7656A>C|||||4057|,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|2/5|c.240-40T>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|2/4|c.240-2636T>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|2/3|c.201+2852T>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|2/3|c.239+2814T>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|3/4|c.273+1761T>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|2/4|c.240-2636T>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|2/3|n.424+2814T>G||||||,C|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|2/4|n.387-2636T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1010;p3_1000G_AF=0.201677;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=21346;p3_1000G_EAS_AF=0.2937;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242622370;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:181,0,130
chr2	241685998	rs62191287	A	T	187.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.191;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-1.294;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62191287;dbSNPBuildID=129;ANN=T|upstream_gene_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding||c.-4613A>T|||||1014|,T|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding|1/5|c.131-121T>A||||||,T|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding|1/4|c.131-121T>A||||||,T|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding|1/3|c.131-121T>A||||||,T|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding|1/3|c.131-121T>A||||||,T|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding|1/4|c.131-121T>A||||||,T|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding|1/4|c.131-121T>A||||||,T|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene|1/3|n.316-121T>A||||||,T|intron_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene|1/4|n.316-121T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1706;p3_1000G_AF=0.340655;p3_1000G_AFR_AF=0.3525;p3_1000G_AMR_AF=0.5014;p3_1000G_AN=5008;p3_1000G_DP=17188;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.4334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242625413;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2546;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,8:13:99:216,0,128
chr2	241690633	rs7573214	G	A	967.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.88;SOR=0.927;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7573214;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|ING5|ING5|transcript|NM_001330161.1|protein_coding|2/8|c.23G>A|p.Arg8Gln|1847/4274|23/765|8/254||,A|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding||c.-3850C>T|||||3665|,A|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding||c.-3850C>T|||||3665|,A|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding||c.-3850C>T|||||3665|,A|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding||c.-3850C>T|||||3665|,A|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding||c.-3850C>T|||||3665|,A|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding||c.-3850C>T|||||3665|,A|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene||n.-3665C>T|||||3665|,A|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene||n.-3665C>T|||||3665|;p3_1000G_AA=A|||;p3_1000G_AC=3045;p3_1000G_AF=0.608027;p3_1000G_AFR_AF=0.6899;p3_1000G_AMR_AF=0.7147;p3_1000G_AN=5008;p3_1000G_DP=20387;p3_1000G_EAS_AF=0.5357;p3_1000G_EUR_AF=0.6262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242630048;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,36:36:99:996,107,0
chr2	241690803	rs113792539	CT	C	27.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.524;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs113792539;dbSNPBuildID=132;ANN=C|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320905.1|protein_coding||c.-4021delA|||||3836|,C|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001165031.1|protein_coding||c.-4021delA|||||3836|,C|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320902.1|protein_coding||c.-4021delA|||||3836|,C|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320903.1|protein_coding||c.-4021delA|||||3836|,C|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_001320904.1|protein_coding||c.-4021delA|||||3836|,C|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NM_012145.3|protein_coding||c.-4021delA|||||3836|,C|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_033255.1|pseudogene||n.-3836delA|||||3836|,C|upstream_gene_variant|MODIFIER|DTYMK|DTYMK|transcript|NR_135492.1|pseudogene||n.-3836delA|||||3836|,C|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding|2/7|c.43+163delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,3:5:38:65,0,38
chr2	241702151	rs111766881	C	T	296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.657;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.72;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.677;SOR=1.095;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs111766881;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding|2/7|c.44-2502C>T||||||,T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330162.1|protein_coding|1/7|c.37+49C>T||||||,T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_032329.5|protein_coding|1/7|c.37+49C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=945;p3_1000G_AF=0.188698;p3_1000G_AFR_AF=0.0507;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=3239;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242641566;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:16,12:28:99:0|1:241702133_C_A:325,0,405
chr2	241704583	rs35512800	G	A	192.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.799;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.349;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=0.277;SOR=0.175;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35512800;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding|2/7|c.44-70G>A||||||,A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330162.1|protein_coding|1/7|c.38-70G>A||||||,A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_032329.5|protein_coding|1/7|c.38-70G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1449;p3_1000G_AF=0.289337;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=19773;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.1402;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242643998;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,9:27:99:221,0,596
chr2	241704758	rs4675889	A	G	189.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.113;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=1.859;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.12;ReadPosRankSum=0.192;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4675889;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding|3/7|c.115+34A>G||||||,G|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330162.1|protein_coding|2/7|c.109+34A>G||||||,G|intron_variant|MODIFIER|ING5|ING5|transcript|NM_032329.5|protein_coding|2/7|c.109+34A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=940;p3_1000G_AF=0.1877;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=15288;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242644173;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=296,4110;ESP6500_AA_AGE=798.6+/-415.5;ESP6500_AA_GTC=6,284,1913;ESP6500_CDS_SIZES=NM_032329.4:723;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=61;ESP6500_EA_AC=970,7622;ESP6500_EA_AGE=771.6+/-407.7;ESP6500_EA_GTC=54,862,3380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032329.4:intron;ESP6500_GL=ING5;ESP6500_GRCh38_POSITION=2:241704758;ESP6500_GTC=60,1146,5293;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032329.4:c.109+34A>G;ESP6500_MAF=11.2896,6.7181,9.74;ESP6500_TAC=1266,11732	GT:AD:DP:GQ:PL	0/1:21,10:31:99:218,0,650
chr2	241709130	rs7595652	C	T	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.404;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.32;ReadPosRankSum=0.65;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7595652;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding|3/7|c.116-86C>T||||||,T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330162.1|protein_coding|2/7|c.110-86C>T||||||,T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_032329.5|protein_coding|2/7|c.110-86C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1400;p3_1000G_AF=0.279553;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=22960;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242648545;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,15:21:99:0|1:241709130_C_T:581,0,207
chr2	241709131	rs112552017	G	A	121.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.694;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=-0.464;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112552017;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding|3/7|c.116-85G>A||||||,A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330162.1|protein_coding|2/7|c.110-85G>A||||||,A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_032329.5|protein_coding|2/7|c.110-85G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=479;p3_1000G_AF=0.095647;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=22941;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242648546;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,6:21:99:1|0:241709130_C_T:150,0,645
chr2	241709134	rs7568408	G	A	582.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.03;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.49;ReadPosRankSum=1.19;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7568408;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding|3/7|c.116-82G>A||||||,A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330162.1|protein_coding|2/7|c.110-82G>A||||||,A|intron_variant|MODIFIER|ING5|ING5|transcript|NM_032329.5|protein_coding|2/7|c.110-82G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1400;p3_1000G_AF=0.279553;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=22976;p3_1000G_EAS_AF=0.1875;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242648549;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1708;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,15:22:99:0|1:241709130_C_T:611,0,237
chr2	241712180	rs7587136	C	T	371.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.374;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.624;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.599;SOR=0.393;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7587136;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding|6/7|c.488+109C>T||||||,T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330162.1|protein_coding|5/7|c.482+109C>T||||||,T|intron_variant|MODIFIER|ING5|ING5|transcript|NM_032329.5|protein_coding|5/7|c.482+109C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=519;p3_1000G_AF=0.103634;p3_1000G_AFR_AF=0.034;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=17880;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.0268;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242651595;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,16:33:99:400,0,449
chr2	241723346	rs7572153	T	C	502.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.7;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=0.24;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7572153;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|ING5|ING5|transcript|NM_001330161.1|protein_coding||c.*3224T>C|||||1539|,C|intron_variant|MODIFIER|ING5|ING5|transcript|NM_001330162.1|protein_coding|7/7|c.680+75T>C||||||,C|intron_variant|MODIFIER|ING5|ING5|transcript|NM_032329.5|protein_coding|7/7|c.680+75T>C||||||;p3_1000G_AA=.|||;p3_1000G_AC=3760;p3_1000G_AF=0.750799;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=17884;p3_1000G_EAS_AF=0.8125;p3_1000G_EUR_AF=0.5765;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242662761;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,18:29:99:531,0,261
chr2	241735388	rs77940364;158414	G	A	880.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.727;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=2.4;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77940364;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|2/10|c.164G>A|p.Arg55Gln|373/2622|164/1566|55/521||,A|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|1/8|c.-111+693G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|2/8|n.373G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1134;p3_1000G_AF=0.226438;p3_1000G_AFR_AF=0.1914;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=13600;p3_1000G_EAS_AF=0.1617;p3_1000G_EUR_AF=0.3191;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242674803;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=788,3316;ESP6500_AA_GTC=84,620,1348;ESP6500_CDS_SIZES=NM_152783.3:1566;ESP6500_CG=-6.4;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=9;ESP6500_EA_AC=2638,5780;ESP6500_EA_GTC=471,1696,2042;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152783.3:missense;ESP6500_GL=D2HGDH;ESP6500_GRCh38_POSITION=2:241735388;ESP6500_GS=43;ESP6500_GTC=555,2316,3390;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_152783.3:c.164G>A;ESP6500_HGVS_PROTEIN_VAR=NM_152783.3:p.(R55Q);ESP6500_MAF=31.3376,19.2008,27.3598;ESP6500_PH=benign:0.032;ESP6500_TAC=3426,9096;CLINVAR_AF_ESP=0.2736;CLINVAR_AF_EXAC=0.39167;CLINVAR_AF_TGP=0.2264;CLINVAR_ALLELEID=168055;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0012321,MedGen:C1833429|MedGen:CN169374;CLINVAR_CLNDN=D-2-hydroxyglutaric_aciduria|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.241735388G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28658;CLINVAR_GENEINFO=D2HGDH:728294;CLINVAR_MC=SO:0001583|missense_variant,SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=77940364	GT:AD:DP:GQ:PL	0/1:50,39:89:99:909,0,1267
chr2	241735544	rs62191977;158415	T	G	1155.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.98;SOR=2.621;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62191977;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|2/9|c.292+28T>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|1/8|c.-111+849T>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|2/7|n.501+28T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3718;p3_1000G_AF=0.742412;p3_1000G_AFR_AF=0.9713;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=12647;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.6501;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242674959;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3606,356;ESP6500_AA_GTC=1647,312,22;ESP6500_CDS_SIZES=NM_152783.3:1566;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=18;ESP6500_EA_AC=5273,2983;ESP6500_EA_GTC=1711,1851,566;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152783.3:intron;ESP6500_GL=D2HGDH;ESP6500_GRCh38_POSITION=2:241735544;ESP6500_GTC=3358,2163,588;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_152783.3:c.292+28T>G;ESP6500_MAF=36.1313,8.9854,27.3285;ESP6500_TAC=8879,3339;CLINVAR_ALLELEID=168057;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.241735544T>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=D2HGDH:728294;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=62191977	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1184,90,0
chr2	241740951	rs4073890	A	G	331.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.19;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.318;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.397;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4073890;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|2/9|c.293-82A>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|1/8|c.-110-82A>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|2/7|n.502-82A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2839;p3_1000G_AF=0.566893;p3_1000G_AFR_AF=0.8835;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=16789;p3_1000G_EAS_AF=0.375;p3_1000G_EUR_AF=0.4563;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242680366;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,11:21:99:360,0,279
chr2	241741015	rs4073889;158417	A	G	494.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.34;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.356;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.46;SOR=0.384;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4073889;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|2/9|c.293-18A>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|1/8|c.-110-18A>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|2/7|n.502-18A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2828;p3_1000G_AF=0.564696;p3_1000G_AFR_AF=0.8676;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=17766;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.4573;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242680430;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3479,927;ESP6500_AA_AGE=348.7+/-310.1;ESP6500_AA_GTC=1374,731,98;ESP6500_CDS_SIZES=NM_152783.3:1566;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=51;ESP6500_EA_AC=3863,4729;ESP6500_EA_AGE=604.6+/-394.8;ESP6500_EA_GTC=865,2133,1298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152783.3:intron;ESP6500_GL=D2HGDH;ESP6500_GRCh38_POSITION=2:241741015;ESP6500_GTC=2239,2864,1396;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152783.3:c.293-18A>G;ESP6500_MAF=44.9604,21.0395,43.5144;ESP6500_TAC=7342,5656;CLINVAR_AF_EXAC=0.49343;CLINVAR_ALLELEID=168059;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.241741015A>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=D2HGDH:728294;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4073889	GT:AD:DP:GQ:PL	0/1:24,18:42:99:523,0,670
chr2	241741112	rs141218715	C	G	454.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.819;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.11;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.37;SOR=0.242;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141218715;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|3/9|c.350+22C>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|2/8|c.-53+22C>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|3/7|n.559+22C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=22;p3_1000G_AF=0.00439297;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16753;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242680527;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2,4404;ESP6500_AA_AGE=4.2+/-10.8;ESP6500_AA_GTC=0,2,2201;ESP6500_CDS_SIZES=NM_152783.3:1566;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=33;ESP6500_EA_AC=0,8592;ESP6500_EA_GTC=0,0,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152783.3:intron;ESP6500_GL=D2HGDH;ESP6500_GRCh38_POSITION=2:241741112;ESP6500_GTC=0,2,6497;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_152783.3:c.350+22C>G;ESP6500_MAF=0.0,0.0454,0.0154;ESP6500_TAC=2,12996	GT:AD:DP:GQ:PL	0/1:18,18:36:99:483,0,553
chr2	241743959	rs62192003	T	C	50.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.04;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.38;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62192003;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|5/9|c.684+144T>C||||||,C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|4/8|c.282+144T>C||||||,C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|5/7|n.893+144T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2804;p3_1000G_AF=0.559904;p3_1000G_AFR_AF=0.8608;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=17151;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242683374;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:79:79,0,217
chr2	241744700	rs4234097;158423	T	C	781.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.41;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.594;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=0.098;SOR=1.1;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4234097;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|5/9|c.685-9T>C||||||,C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|4/8|c.283-9T>C||||||,C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|5/7|n.894-9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2810;p3_1000G_AF=0.561102;p3_1000G_AFR_AF=0.8616;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=19208;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.4553;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242684115;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4744;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3432,974;ESP6500_AA_AGE=365.6+/-317.5;ESP6500_AA_GTC=1332,768,103;ESP6500_CDS_SIZES=NM_152783.3:1566;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=102;ESP6500_EA_AC=3838,4754;ESP6500_EA_AGE=609.8+/-395.6;ESP6500_EA_GTC=859,2120,1317;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152783.3:intron;ESP6500_GL=D2HGDH;ESP6500_GRCh38_POSITION=2:241744700;ESP6500_GTC=2191,2888,1420;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152783.3:c.685-9T>C;ESP6500_MAF=44.6695,22.1062,44.0683;ESP6500_TAC=7270,5728;CLINVAR_AF_EXAC=0.48836;CLINVAR_ALLELEID=168063;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0012321,MedGen:C1833429|MedGen:CN169374;CLINVAR_CLNDN=D-2-hydroxyglutaric_aciduria|not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.241744700T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:28584;CLINVAR_GENEINFO=D2HGDH:728294;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4234097	GT:AD:DP:GQ:PL	0/1:15,26:41:99:810,0,365
chr2	241744972	rs368566208	A	ACCC	199.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.08;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.588;SOR=0.368;INS;HET;VARTYPE=INS;dbSNPBuildID=138;ANN=ACCC|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|6/9|c.853+99_853+101dupCCC||||||INFO_REALIGN_3_PRIME,ACCC|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|5/8|c.451+99_451+101dupCCC||||||INFO_REALIGN_3_PRIME,ACCC|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|6/7|n.1062+99_1062+101dupCCC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,7:17:99:0|1:241744972_A_ACCC:237,0,399
chr2	241744979	rs4675884	G	C	640.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4675884;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|6/9|c.853+102G>C||||||,C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|5/8|c.451+102G>C||||||,C|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|6/7|n.1062+102G>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=4810;p3_1000G_AF=0.960463;p3_1000G_AFR_AF=0.9773;p3_1000G_AMR_AF=0.9193;p3_1000G_AN=5008;p3_1000G_DP=17527;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9095;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242684394;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,17:17:51:1|1:241744972_A_ACCC:669,51,0
chr2	241748788	rs34519321	C	T	517.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.067;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.837;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.676;SOR=1.409;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34519321;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|6/9|c.854-1363C>T||||||,T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|5/8|c.452-1363C>T||||||,T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|6/7|n.1062+3911C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2784;p3_1000G_AF=0.555911;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=15032;p3_1000G_EAS_AF=0.3641;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242688203;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,21:42:99:546,0,535
chr2	241748877	rs34767042	C	T	599.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.209;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.351;SOR=0.752;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34767042;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|6/9|c.854-1274C>T||||||,T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|5/8|c.452-1274C>T||||||,T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|6/7|n.1062+4000C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2784;p3_1000G_AF=0.555911;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.549;p3_1000G_AN=5008;p3_1000G_DP=15199;p3_1000G_EAS_AF=0.3641;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242688292;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:29,30:59:99:628,0,760
chr2	241748951	rs35386923	C	T	430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.961;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=1.298;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.08;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35386923;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|6/9|c.854-1200C>T||||||,T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|5/8|c.452-1200C>T||||||,T|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|6/7|n.1062+4074C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=2674;p3_1000G_AF=0.533946;p3_1000G_AFR_AF=0.7761;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=16668;p3_1000G_EAS_AF=0.3641;p3_1000G_EUR_AF=0.4553;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242688366;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,18:41:99:459,0,579
chr2	241767686	rs6756901;158411	A	G	490.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.725;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.315;SOR=0.622;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6756901;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_152783.4|protein_coding|9/9|c.1307-24A>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NM_001287249.1|protein_coding|8/8|c.905-24A>G||||||,G|intron_variant|MODIFIER|D2HGDH|D2HGDH|transcript|NR_109778.1|pseudogene|7/7|n.1229-24A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3155;p3_1000G_AF=0.629992;p3_1000G_AFR_AF=0.9319;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=10025;p3_1000G_EAS_AF=0.6181;p3_1000G_EUR_AF=0.5129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242707101;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP;ESP6500_AA_AC=3764,640;ESP6500_AA_AGE=711.2+/-408.0;ESP6500_AA_GTC=1609,546,47;ESP6500_CDS_SIZES=NM_152783.3:1566;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=43;ESP6500_EA_AC=4255,4327;ESP6500_EA_AGE=553.1+/-386.2;ESP6500_EA_GTC=1086,2083,1122;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152783.3:intron;ESP6500_GL=D2HGDH;ESP6500_GRCh38_POSITION=2:241767686;ESP6500_GTC=2695,2629,1169;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152783.3:c.1307-24A>G;ESP6500_MAF=49.5805,14.5322,38.2489;ESP6500_TAC=8019,4967;CLINVAR_ALLELEID=168071;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000002.12:g.241767686A>G;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=D2HGDH:728294;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6756901	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,19:39:99:0|1:241767686_A_G:519,0,494
chr2	241803238	rs78145032	T	G	441.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=-1.091;SOR=0.42;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78145032;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|GAL3ST2|GAL3ST2|transcript|NM_022134.2|protein_coding|3/3|c.376-107T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=900;p3_1000G_AF=0.179712;p3_1000G_AFR_AF=0.233;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=14635;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.1074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242742653;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,14:26:99:470,0,308
chr2	241803460	rs62620233	C	T	1299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.53;ClippingRankSum=0;DP=100;ExcessHet=3.0103;FS=1.597;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.199;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62620233;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|GAL3ST2|GAL3ST2|transcript|NM_022134.2|protein_coding|4/4|c.491C>T|p.Ala164Val|622/1449|491/1197|164/398||;p3_1000G_AA=C|||;p3_1000G_AC=790;p3_1000G_AF=0.157748;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=14441;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0.1044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242742875;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1401;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=700,3702;ESP6500_AA_AGE=252.4+/-258.8;ESP6500_AA_GTC=62,576,1563;ESP6500_CDS_SIZES=NM_022134.2:1197;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=31;ESP6500_EA_AC=827,7769;ESP6500_EA_AGE=176.5+/-226.3;ESP6500_EA_GTC=40,747,3511;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022134.2:missense;ESP6500_GL=GAL3ST2;ESP6500_GRCh38_POSITION=2:241803460;ESP6500_GS=64;ESP6500_GTC=102,1323,5074;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_022134.2:c.491C>T;ESP6500_HGVS_PROTEIN_VAR=NM_022134.2:p.(A164V);ESP6500_MAF=9.6208,15.9019,11.748;ESP6500_PH=benign:0.011;ESP6500_TAC=1527,11471	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1328,0,1453
chr2	241814402	rs66482163	A	G	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.57;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=3.407;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.219;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167599.2|protein_coding|1/3|c.34-77A>G||||||,G|intron_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167600.2|protein_coding|1/3|c.-3-80A>G||||||,G|intron_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167601.2|protein_coding|1/3|c.-6-77A>G||||||,G|intron_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167602.2|protein_coding|2/4|c.-3-80A>G||||||,G|intron_variant|MODIFIER|NEU4|NEU4|transcript|NM_080741.3|protein_coding|1/3|c.34-80A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2867;p3_1000G_AF=0.572484;p3_1000G_AFR_AF=0.5650999999999999;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=13221;p3_1000G_EAS_AF=0.5812999999999999;p3_1000G_EUR_AF=0.6143000000000001;p3_1000G_GRCH37_POS=242755599;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.47030000000000005;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,14:31:99:375,0,431
chr2	241816085	rs36111671	T	C	859.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.94;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=2.153;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.308;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167599.2|protein_coding|4/4|c.531T>C|p.Gly177Gly|1028/2356|531/1494|177/497||,C|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167600.2|protein_coding|4/4|c.492T>C|p.Gly164Gly|705/2033|492/1455|164/484||,C|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167601.2|protein_coding|4/4|c.492T>C|p.Gly164Gly|708/2036|492/1455|164/484||,C|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167602.2|protein_coding|5/5|c.492T>C|p.Gly164Gly|1206/2534|492/1455|164/484||,C|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_080741.3|protein_coding|4/4|c.528T>C|p.Gly176Gly|1025/2353|528/1491|176/496||;p3_1000G_AA=C|||;p3_1000G_AC=3925;p3_1000G_AF=0.783746;p3_1000G_AFR_AF=0.882;p3_1000G_AMR_AF=0.8429;p3_1000G_AN=5008;p3_1000G_DP=12056;p3_1000G_EAS_AF=0.7778;p3_1000G_EUR_AF=0.7763;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=242757411;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:33,31:64:99:888,0,796
chr2	241816271	rs78073278	A	G	1596.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=1.565;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=131;ANN=G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167599.2|protein_coding|4/4|c.717A>G|p.Ala239Ala|1214/2356|717/1494|239/497||,G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167600.2|protein_coding|4/4|c.678A>G|p.Ala226Ala|891/2033|678/1455|226/484||,G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167601.2|protein_coding|4/4|c.678A>G|p.Ala226Ala|894/2036|678/1455|226/484||,G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167602.2|protein_coding|5/5|c.678A>G|p.Ala226Ala|1392/2534|678/1455|226/484||,G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_080741.3|protein_coding|4/4|c.714A>G|p.Ala238Ala|1211/2353|714/1491|238/496||;p3_1000G_AA=G|||;p3_1000G_AC=4920;p3_1000G_AF=0.9824281;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=12382;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9621999999999999;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=242757597;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.9652000000000001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1625,153,0
chr2	241816494	rs11545301	G	A	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.306;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=0.342;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11545301;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|NEU4|NEU4|transcript|NM_001167599.2|protein_coding|4/4|c.940G>A|p.Gly314Arg|1437/2356|940/1494|314/497||,A|missense_variant|MODERATE|NEU4|NEU4|transcript|NM_001167600.2|protein_coding|4/4|c.901G>A|p.Gly301Arg|1114/2033|901/1455|301/484||,A|missense_variant|MODERATE|NEU4|NEU4|transcript|NM_001167601.2|protein_coding|4/4|c.901G>A|p.Gly301Arg|1117/2036|901/1455|301/484||,A|missense_variant|MODERATE|NEU4|NEU4|transcript|NM_001167602.2|protein_coding|5/5|c.901G>A|p.Gly301Arg|1615/2534|901/1455|301/484||,A|missense_variant|MODERATE|NEU4|NEU4|transcript|NM_080741.3|protein_coding|4/4|c.937G>A|p.Gly313Arg|1434/2353|937/1491|313/496||;p3_1000G_AA=G|||;p3_1000G_AC=1213;p3_1000G_AF=0.242212;p3_1000G_AFR_AF=0.2988;p3_1000G_AMR_AF=0.2176;p3_1000G_AN=5008;p3_1000G_DP=13537;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.2783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242757820;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP;ESP6500_AA_AC=1158,3026;ESP6500_AA_GTC=168,822,1102;ESP6500_CDS_SIZES=NM_080741.2:1491,NM_001167602.1:1455,NM_001167601.1:1455,NM_001167600.1:1455,NM_001167599.1:1494;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=11;ESP6500_EA_AC=2335,5971;ESP6500_EA_GTC=357,1621,2175;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_080741.2:missense,NM_001167602.1:missense,NM_001167601.1:missense,NM_001167600.1:missense,NM_001167599.1:missense;ESP6500_GL=NEU4;ESP6500_GRCh38_POSITION=2:241816494;ESP6500_GS=125,125,125,125,125;ESP6500_GTC=525,2443,3277;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080741.2:c.937G>A,NM_001167602.1:c.901G>A,NM_001167601.1:c.901G>A,NM_001167600.1:c.901G>A,NM_001167599.1:c.940G>A;ESP6500_HGVS_PROTEIN_VAR=NM_080741.2:p.(G313R),NM_001167602.1:p.(G301R),NM_001167601.1:p.(G301R),NM_001167600.1:p.(G301R),NM_001167599.1:p.(G314R);ESP6500_MAF=28.1122,27.6769,27.9664;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=3493,8997	GT:AD:DP:GQ:PL	0/1:10,8:18:99:170,0,219
chr2	241816877	rs2293763	C	T	381.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.167;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=2;SOR=0.548;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167599.2|protein_coding|4/4|c.1323C>T|p.Ala441Ala|1820/2356|1323/1494|441/497||,T|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167600.2|protein_coding|4/4|c.1284C>T|p.Ala428Ala|1497/2033|1284/1455|428/484||,T|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167601.2|protein_coding|4/4|c.1284C>T|p.Ala428Ala|1500/2036|1284/1455|428/484||,T|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167602.2|protein_coding|5/5|c.1284C>T|p.Ala428Ala|1998/2534|1284/1455|428/484||,T|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_080741.3|protein_coding|4/4|c.1320C>T|p.Ala440Ala|1817/2353|1320/1491|440/496||;p3_1000G_AA=C|||;p3_1000G_AC=2779;p3_1000G_AF=0.5549120000000001;p3_1000G_AFR_AF=0.5113;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=12581;p3_1000G_EAS_AF=0.5812999999999999;p3_1000G_EUR_AF=0.6153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=242758203;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.45399999999999996;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,17:38:99:410,0,513
chr2	241817000	rs2293761	A	G	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=1.999;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.13;ReadPosRankSum=0.835;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167599.2|protein_coding|4/4|c.1446A>G|p.Lys482Lys|1943/2356|1446/1494|482/497||,G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167600.2|protein_coding|4/4|c.1407A>G|p.Lys469Lys|1620/2033|1407/1455|469/484||,G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167601.2|protein_coding|4/4|c.1407A>G|p.Lys469Lys|1623/2036|1407/1455|469/484||,G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_001167602.2|protein_coding|5/5|c.1407A>G|p.Lys469Lys|2121/2534|1407/1455|469/484||,G|synonymous_variant|LOW|NEU4|NEU4|transcript|NM_080741.3|protein_coding|4/4|c.1443A>G|p.Lys481Lys|1940/2353|1443/1491|481/496||;p3_1000G_AA=G|||;p3_1000G_AC=2784;p3_1000G_AF=0.555911;p3_1000G_AFR_AF=0.5136000000000001;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=12711;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.6153;p3_1000G_EX_TARGET;p3_1000G_GRCH37_POS=242758326;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.45909999999999995;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,6:21:99:157,0,415
chr2	241817121	rs2293760	G	A	159.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.931;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293760;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167599.2|protein_coding|4/4|c.*73G>A|||||73|,A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167600.2|protein_coding|4/4|c.*73G>A|||||73|,A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167601.2|protein_coding|4/4|c.*73G>A|||||73|,A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167602.2|protein_coding|5/5|c.*73G>A|||||73|,A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_080741.3|protein_coding|4/4|c.*73G>A|||||73|;p3_1000G_AA=G|||;p3_1000G_AC=1172;p3_1000G_AF=0.234026;p3_1000G_AFR_AF=0.2632;p3_1000G_AMR_AF=0.2147;p3_1000G_AN=5008;p3_1000G_DP=13119;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242758447;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2945;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:188,0,184
chr2	241817149	rs2293759	G	A	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=1.17;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNPBuildID=100;ANN=A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167599.2|protein_coding|4/4|c.*101G>A|||||101|,A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167600.2|protein_coding|4/4|c.*101G>A|||||101|,A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167601.2|protein_coding|4/4|c.*101G>A|||||101|,A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_001167602.2|protein_coding|5/5|c.*101G>A|||||101|,A|3_prime_UTR_variant|MODIFIER|NEU4|NEU4|transcript|NM_080741.3|protein_coding|4/4|c.*101G>A|||||101|;p3_1000G_AA=G|||;p3_1000G_AC=2091;p3_1000G_AF=0.417532;p3_1000G_AFR_AF=0.5067999999999999;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=13210;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.5993999999999999;p3_1000G_GRCH37_POS=242758475;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_REF_SWITCH;p3_1000G_SAS_AF=0.39980000000000004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:208,0,130
chr2	241851121	rs2227981	A	G	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.371;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.723;SOR=0.741;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2227981;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|PDCD1|PDCD1|transcript|NM_005018.2|protein_coding|5/5|c.804T>C|p.Ala268Ala|872/2112|804/867|268/288||;p3_1000G_AA=G|||;p3_1000G_AC=3245;p3_1000G_AF=0.647963;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=16254;p3_1000G_EAS_AF=0.7321;p3_1000G_EUR_AF=0.5984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242793273;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2611,1795;ESP6500_AA_AGE=498.3+/-364.1;ESP6500_AA_GTC=764,1083,356;ESP6500_CDS_SIZES=NM_005018.2:867;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=29;ESP6500_EA_AC=5014,3584;ESP6500_EA_AGE=492.9+/-373.4;ESP6500_EA_GTC=1454,2106,739;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005018.2:coding-synonymous;ESP6500_GL=PDCD1;ESP6500_GRCh38_POSITION=2:241851121;ESP6500_GTC=2218,3189,1095;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005018.2:c.804T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005018.2:p.(A268);ESP6500_MAF=41.6841,40.7399,41.3642;ESP6500_TAC=7625,5379	GT:AD:DP:GQ:PL	0/1:27,17:44:99:375,0,680
chr2	241851407	rs6705653	T	C	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.97;ReadPosRankSum=-0.921;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6705653;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|PDCD1|PDCD1|transcript|NM_005018.2|protein_coding|4/4|c.628-110A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3246;p3_1000G_AF=0.648163;p3_1000G_AFR_AF=0.5477;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=13330;p3_1000G_EAS_AF=0.7321;p3_1000G_EUR_AF=0.5994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242793559;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:47:196,0,47
chr2	241870972	rs13016102	T	C	2185.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.12;SOR=1.284;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13016102;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|RTP5|RTP5|transcript|NM_173821.2|protein_coding|1/1|c.159-742T>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=4956;p3_1000G_AF=0.989617;p3_1000G_AFR_AF=0.9667;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=20305;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242813124;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2214,198,0
chr2	241871089	rs28392509	C	T	747.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.379;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.742;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28392509;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|RTP5|RTP5|transcript|NM_173821.2|protein_coding|1/1|c.159-625C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4133;p3_1000G_AF=0.82528;p3_1000G_AFR_AF=0.8139;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=18711;p3_1000G_EAS_AF=0.9415;p3_1000G_EUR_AF=0.6948;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242813241;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:34,30:64:99:776,0,930
chr2	241871124	rs62193136	C	T	504.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.922;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=3.462;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.032;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62193136;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|RTP5|RTP5|transcript|NM_173821.2|protein_coding|1/1|c.159-590C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2103;p3_1000G_AF=0.419928;p3_1000G_AFR_AF=0.298;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=18575;p3_1000G_EAS_AF=0.2887;p3_1000G_EUR_AF=0.5845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=242813276;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5777;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:20,20:40:99:533,0,567
chr2	242095067	rs147095312	T	G	789.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.34;MQRankSum=-0.789;QD=10.97;ReadPosRankSum=-0.946;SOR=0.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147095312;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|LOC728323|LOC728323|transcript|NR_130699.1|pseudogene|2/7|n.310+40T>G||||||,G|intron_variant|MODIFIER|LOC728323|LOC728323|transcript|NR_130700.1|pseudogene|2/5|n.310+40T>G||||||,G|intron_variant|MODIFIER|LOC728323|LOC728323|transcript|NR_130701.1|pseudogene|2/7|n.310+40T>G||||||,G|intron_variant|MODIFIER|LOC728323|LOC728323|transcript|NR_130702.1|pseudogene|2/6|n.310+40T>G||||||;p3_1000G_AA=.|||;p3_1000G_AC=120;p3_1000G_AF=0.0239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=18785;p3_1000G_EAS_AF=0.0288;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=243037218;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,32:72:99:818,0,1028
chr3	197562	rs6442651	C	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.135;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.2;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6442651;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|CHL1|CHL1|transcript|NR_045572.1|pseudogene||n.-81C>G|||||81|,G|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|1/27|c.-175+499C>G||||||,G|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|1/26|c.-175+499C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=490;p3_1000G_AF=0.0978435;p3_1000G_AFR_AF=0.0129;p3_1000G_AMR_AF=0.1671;p3_1000G_AN=5008;p3_1000G_DP=11677;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0.2306;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=239245;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1166;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:192,0,172
chr3	326074	rs162734	G	C	551.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.895;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=1.08;SOR=0.575;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs162734;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|4/27|c.197+10G>C||||||,C|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|4/26|c.197+10G>C||||||,C|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|2/24|c.197+10G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1661;p3_1000G_AF=0.331669;p3_1000G_AFR_AF=0.8449;p3_1000G_AMR_AF=0.1974;p3_1000G_AN=5008;p3_1000G_DP=16900;p3_1000G_EAS_AF=0.0179;p3_1000G_EUR_AF=0.1869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=367757;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2055;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3320,1084;ESP6500_AA_AGE=390.5+/-327.7;ESP6500_AA_GTC=1261,798,143;ESP6500_CDS_SIZES=NM_006614.3:3675,NM_001253388.1:3516,NM_001253387.1:3627;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=62;ESP6500_EA_AC=1723,6877;ESP6500_EA_AGE=734.5+/-406.9;ESP6500_EA_GTC=176,1371,2753;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006614.3:intron,NM_001253388.1:intron,NM_001253387.1:intron;ESP6500_GL=CHL1;ESP6500_GRCh38_POSITION=3:326074;ESP6500_GTC=1437,2169,2896;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_006614.3:c.197+10G>C,NM_001253388.1:c.197+10G>C,NM_001253387.1:c.197+10G>C;ESP6500_MAF=20.0349,24.614,38.7804;ESP6500_TAC=5043,7961	GT:AD:DP:GQ:PL	0/1:18,25:43:99:580,0,414
chr3	344564	rs3736632	C	T	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.65;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3736632;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|8/27|c.728-25C>T||||||,T|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|7/26|c.680-25C>T||||||,T|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|6/24|c.728-25C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1423;p3_1000G_AF=0.284145;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=14305;p3_1000G_EAS_AF=0.3621;p3_1000G_EUR_AF=0.333;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=386247;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=479,3927;ESP6500_AA_AGE=214.1+/-233.5;ESP6500_AA_GTC=20,439,1744;ESP6500_CDS_SIZES=NM_006614.3:3675,NM_001253388.1:3516,NM_001253387.1:3627;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=37;ESP6500_EA_AC=2931,5669;ESP6500_EA_AGE=432.5+/-357.1;ESP6500_EA_GTC=493,1945,1862;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006614.3:intron,NM_001253388.1:intron,NM_001253387.1:intron;ESP6500_GL=CHL1;ESP6500_GRCh38_POSITION=3:344564;ESP6500_GTC=513,2384,3606;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006614.3:c.728-25C>T,NM_001253388.1:c.728-25C>T,NM_001253387.1:c.680-25C>T;ESP6500_MAF=34.0814,10.8715,26.2187;ESP6500_TAC=3410,9596	GT:AD:DP:GQ:PL	0/1:2,3:5:70:76,0,70
chr3	349318	rs2272524	G	A	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.282;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.524;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272524;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|9/27|c.849-41G>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|8/26|c.801-41G>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|7/24|c.849-41G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1338;p3_1000G_AF=0.267173;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.2046;p3_1000G_AN=5008;p3_1000G_DP=19312;p3_1000G_EAS_AF=0.3968;p3_1000G_EUR_AF=0.2913;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=391001;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4192;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=422,3916;ESP6500_AA_GTC=19,384,1766;ESP6500_CDS_SIZES=NM_006614.3:3675,NM_001253388.1:3516,NM_001253387.1:3627;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=15;ESP6500_EA_AC=2545,6015;ESP6500_EA_GTC=375,1795,2110;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006614.3:intron,NM_001253388.1:intron,NM_001253387.1:intron;ESP6500_GL=CHL1;ESP6500_GRCh38_POSITION=3:349318;ESP6500_GTC=394,2179,3876;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006614.3:c.849-41G>A,NM_001253388.1:c.849-41G>A,NM_001253387.1:c.801-41G>A;ESP6500_MAF=29.7313,9.728,23.0036;ESP6500_TAC=2967,9931	GT:AD:DP:GQ:PL	0/1:2,4:6:56:104,0,56
chr3	349417	rs13060847	A	G	892.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13060847;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|CHL1|CHL1|transcript|NM_006614.3|protein_coding|10/28|c.907A>G|p.Thr303Ala|1549/8020|907/3675|303/1224||,G|missense_variant|MODERATE|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|9/27|c.859A>G|p.Thr287Ala|1501/7972|859/3627|287/1208||,G|missense_variant|MODERATE|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|8/25|c.907A>G|p.Thr303Ala|1001/7313|907/3516|303/1171||;p3_1000G_AA=A|||;p3_1000G_AC=4262;p3_1000G_AF=0.851038;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.951;p3_1000G_AN=5008;p3_1000G_DP=19394;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=391100;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2308,2098;ESP6500_AA_AGE=601.5+/-389.7;ESP6500_AA_GTC=599,1110,494;ESP6500_CDS_SIZES=NM_006614.3:3675,NM_001253388.1:3516,NM_001253387.1:3627;ESP6500_CG=4.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=72;ESP6500_EA_AC=8587,13;ESP6500_EA_AGE=818.4+/-406.9;ESP6500_EA_GTC=4287,13,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006614.3:missense,NM_001253388.1:missense,NM_001253387.1:missense;ESP6500_GL=CHL1;ESP6500_GRCh38_POSITION=3:349417;ESP6500_GS=58,58,58;ESP6500_GTC=4886,1123,494;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006614.3:c.907A>G,NM_001253388.1:c.907A>G,NM_001253387.1:c.859A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006614.3:p.(T303A),NM_001253388.1:p.(T303A),NM_001253387.1:p.(T287A);ESP6500_MAF=0.1512,47.6169,16.231;ESP6500_PH=benign:0.095,benign:0.095,benign:0.095;ESP6500_TAC=10895,2111	GT:AD:DP:GQ:PL	1/1:0,28:28:84:921,84,0
chr3	354586	rs546473003	T	C	353.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.576;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=7.65;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.79;SOR=0.064;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=C|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|10/27|c.1034-54T>C||||||,C|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|9/26|c.986-54T>C||||||,C|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|8/24|c.1034-54T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19177;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=396269;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,14:24:99:382,0,305
chr3	361605	rs9824311	G	A	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.481;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.464;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9824311;dbSNPBuildID=119;ANN=A|downstream_gene_variant|MODIFIER|CHL1-AS1|CHL1-AS1|transcript|NR_110739.1|pseudogene||n.*1768C>T|||||1768|,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|12/27|c.1307-94G>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|11/26|c.1259-94G>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|10/24|c.1307-94G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2779;p3_1000G_AF=0.554912;p3_1000G_AFR_AF=0.447;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=19448;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.5954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=403288;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,5:14:99:0|1:361605_G_A:180,0,402
chr3	361614	rs9839027	C	A	151.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.647;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.14;SOR=0.26;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9839027;dbSNPBuildID=119;ANN=A|downstream_gene_variant|MODIFIER|CHL1-AS1|CHL1-AS1|transcript|NR_110739.1|pseudogene||n.*1759G>T|||||1759|,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|12/27|c.1307-85C>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|11/26|c.1259-85C>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|10/24|c.1307-85C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2794;p3_1000G_AF=0.557907;p3_1000G_AFR_AF=0.4569;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=19311;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.5944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=403297;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,5:15:99:0|1:361605_G_A:180,0,402
chr3	361625	rs9824442	G	A	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.678;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.533;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9824442;dbSNPBuildID=119;ANN=A|downstream_gene_variant|MODIFIER|CHL1-AS1|CHL1-AS1|transcript|NR_110739.1|pseudogene||n.*1748C>T|||||1748|,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|12/27|c.1307-74G>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|11/26|c.1259-74G>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|10/24|c.1307-74G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2791;p3_1000G_AF=0.557308;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.7133;p3_1000G_AN=5008;p3_1000G_DP=19386;p3_1000G_EAS_AF=0.6329;p3_1000G_EUR_AF=0.5954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=403308;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:154,0,457
chr3	361662	rs9846775	A	G	782.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9846775;dbSNPBuildID=119;ANN=G|downstream_gene_variant|MODIFIER|CHL1-AS1|CHL1-AS1|transcript|NR_110739.1|pseudogene||n.*1711T>C|||||1711|,G|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|12/27|c.1307-37A>G||||||,G|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|11/26|c.1259-37A>G||||||,G|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|10/24|c.1307-37A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4869;p3_1000G_AF=0.972244;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=19618;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=403345;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3975,431;ESP6500_AA_AGE=210.2+/-230.7;ESP6500_AA_GTC=1796,383,24;ESP6500_CDS_SIZES=NM_006614.3:3675,NM_001253388.1:3516,NM_001253387.1:3627;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=90;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006614.3:intron,NM_001253388.1:intron,NM_001253387.1:intron;ESP6500_GL=CHL1;ESP6500_GRCh38_POSITION=3:361662;ESP6500_GTC=6093,386,24;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006614.3:c.1307-37A>G,NM_001253388.1:c.1307-37A>G,NM_001253387.1:c.1259-37A>G;ESP6500_MAF=0.0349,9.7821,3.3369;ESP6500_TAC=12572,434	GT:AD:DP:GQ:PL	1/1:0,24:24:72:811,72,0
chr3	398280	rs6442827	A	G	674.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=0.874;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6442827;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|CHL1|CHL1|transcript|NM_006614.3|protein_coding|25/28|c.3148A>G|p.Ile1050Val|3790/8020|3148/3675|1050/1224||,G|missense_variant|MODERATE|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|24/27|c.3100A>G|p.Ile1034Val|3742/7972|3100/3627|1034/1208||,G|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|22/24|c.3095-737A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4800;p3_1000G_AF=0.958466;p3_1000G_AFR_AF=0.851;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=16885;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=439963;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3899,507;ESP6500_AA_AGE=774.0+/-414.0;ESP6500_AA_GTC=1720,459,24;ESP6500_CDS_SIZES=NM_006614.3:3675,NM_001253388.1:3516,NM_001253387.1:3627;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=70;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=817.7+/-406.9;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006614.3:missense,NM_001253388.1:intron,NM_001253387.1:missense;ESP6500_GL=CHL1;ESP6500_GRCh38_POSITION=3:398280;ESP6500_GS=29,.,29;ESP6500_GTC=6017,462,24;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006614.3:c.3148A>G,NM_001253388.1:c.3095-737A>G,NM_001253387.1:c.3100A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006614.3:p.(I1050V),.,NM_001253387.1:p.(I1034V);ESP6500_MAF=0.0349,11.507,3.9213;ESP6500_PH=benign:0.001,.,benign:0.001;ESP6500_TAC=12496,510	GT:AD:DP:GQ:PL	1/1:0,22:22:66:703,66,0
chr3	398345	rs6771714	T	C	479.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6771714;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|CHL1|CHL1|transcript|NM_006614.3|protein_coding|25/28|c.3213T>C|p.Asn1071Asn|3855/8020|3213/3675|1071/1224||,C|synonymous_variant|LOW|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|24/27|c.3165T>C|p.Asn1055Asn|3807/7972|3165/3627|1055/1208||,C|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|22/24|c.3095-672T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4852;p3_1000G_AF=0.96885;p3_1000G_AFR_AF=0.8873;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=16244;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=440028;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4044,362;ESP6500_AA_AGE=185.3+/-212.5;ESP6500_AA_GTC=1853,338,12;ESP6500_CDS_SIZES=NM_006614.3:3675,NM_001253388.1:3516,NM_001253387.1:3627;ESP6500_CG=4.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=87;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006614.3:coding-synonymous,NM_001253388.1:intron,NM_001253387.1:coding-synonymous;ESP6500_GL=CHL1;ESP6500_GRCh38_POSITION=3:398345;ESP6500_GTC=6153,338,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006614.3:c.3213T>C,NM_001253388.1:c.3095-672T>C,NM_001253387.1:c.3165T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006614.3:p.(N1071),.,NM_001253387.1:p.(N1055);ESP6500_MAF=0.0,8.2161,2.7833;ESP6500_TAC=12644,362	GT:AD:DP:GQ:PL	1/1:0,17:17:51:508,51,0
chr3	398405	rs6771803	T	A	258.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.75;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6771803;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|25/27|c.3253+20T>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|24/26|c.3205+20T>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|22/24|c.3095-612T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4853;p3_1000G_AF=0.96905;p3_1000G_AFR_AF=0.888;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=16667;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=440088;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4044,362;ESP6500_AA_AGE=753.2+/-412.4;ESP6500_AA_GTC=1853,338,12;ESP6500_CDS_SIZES=NM_006614.3:3675,NM_001253388.1:3516,NM_001253387.1:3627;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=62;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006614.3:intron,NM_001253388.1:intron,NM_001253387.1:intron;ESP6500_GL=CHL1;ESP6500_GRCh38_POSITION=3:398405;ESP6500_GTC=6153,338,12;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_006614.3:c.3253+20T>A,NM_001253388.1:c.3095-612T>A,NM_001253387.1:c.3205+20T>A;ESP6500_MAF=0.0,8.2161,2.7833;ESP6500_TAC=12644,362	GT:AD:DP:GQ:PL	1/1:0,9:9:27:287,27,0
chr3	399263	rs2387184	G	A	494.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.36;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2387184;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_006614.3|protein_coding|26/27|c.3385+115G>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253387.1|protein_coding|25/26|c.3337+115G>A||||||,A|intron_variant|MODIFIER|CHL1|CHL1|transcript|NM_001253388.1|protein_coding|23/24|c.3226+115G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4868;p3_1000G_AF=0.972045;p3_1000G_AFR_AF=0.9002;p3_1000G_AMR_AF=0.9885;p3_1000G_AN=5008;p3_1000G_DP=20128;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=440946;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:523,42,0
chr3	1173329	rs7632166	A	C	512.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.87;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-2.039;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7632166;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289080.1|protein_coding|2/22|c.55+25266A>C||||||,C|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289081.1|protein_coding|1/21|c.-161-47358A>C||||||,C|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_014461.3|protein_coding|2/22|c.55+25266A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3035;p3_1000G_AF=0.60603;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=19715;p3_1000G_EAS_AF=0.6935;p3_1000G_EUR_AF=0.4662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1215013;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,16:32:99:541,0,452
chr3	1173399	rs13077503	C	A	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.88;ReadPosRankSum=0.524;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13077503;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289080.1|protein_coding|2/22|c.55+25336C>A||||||,A|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289081.1|protein_coding|1/21|c.-161-47288C>A||||||,A|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_014461.3|protein_coding|2/22|c.55+25336C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2419;p3_1000G_AF=0.483027;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.5432;p3_1000G_AN=5008;p3_1000G_DP=20417;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1215083;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,8:10:43:257,0,43
chr3	1220790	rs2013828	T	C	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=1.04;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2013828;dbSNPBuildID=92;ANN=C|synonymous_variant|LOW|CNTN6|CNTN6|transcript|NM_001289080.1|protein_coding|3/23|c.159T>C|p.Asn53Asn|704/3822|159/3087|53/1028||,C|synonymous_variant|LOW|CNTN6|CNTN6|transcript|NM_014461.3|protein_coding|3/23|c.159T>C|p.Asn53Asn|713/3831|159/3087|53/1028||,C|5_prime_UTR_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289081.1|protein_coding|2/22|c.-58T>C|||||7062|;p3_1000G_AA=C|||;p3_1000G_AC=2354;p3_1000G_AF=0.470048;p3_1000G_AFR_AF=0.466;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=15116;p3_1000G_EAS_AF=0.5119;p3_1000G_EUR_AF=0.3419;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1262474;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1938,2468;ESP6500_AA_AGE=623.5+/-394.1;ESP6500_AA_GTC=418,1102,683;ESP6500_CDS_SIZES=NM_014461.2:3087;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=150;ESP6500_EA_AC=3024,5576;ESP6500_EA_AGE=663.4+/-402.1;ESP6500_EA_GTC=552,1920,1828;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014461.2:coding-synonymous;ESP6500_GL=CNTN6;ESP6500_GRCh38_POSITION=3:1220790;ESP6500_GTC=970,3022,2511;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014461.2:c.159T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014461.2:p.(N53);ESP6500_MAF=35.1628,43.9855,38.1516;ESP6500_TAC=4962,8044	GT:AD:DP:GQ:PL	0/1:5,11:16:86:293,0,86
chr3	1295519	rs565499	A	G	529.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs565499;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289080.1|protein_coding|5/22|c.455-82A>G||||||,G|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289081.1|protein_coding|4/21|c.239-82A>G||||||,G|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_014461.3|protein_coding|5/22|c.455-82A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4289;p3_1000G_AF=0.85643;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=21184;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.7873;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1337203;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:558,48,0
chr3	1383034	rs2291101;402550	G	A	652.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.932;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=4.429;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.997;SOR=0.262;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291101;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|CNTN6|CNTN6|transcript|NM_001289080.1|protein_coding|18/23|c.2259G>A|p.Val753Val|2804/3822|2259/3087|753/1028||,A|synonymous_variant|LOW|CNTN6|CNTN6|transcript|NM_001289081.1|protein_coding|17/22|c.2043G>A|p.Val681Val|2667/3685|2043/2871|681/956||,A|synonymous_variant|LOW|CNTN6|CNTN6|transcript|NM_014461.3|protein_coding|18/23|c.2259G>A|p.Val753Val|2813/3831|2259/3087|753/1028||;p3_1000G_AA=A|||;p3_1000G_AC=2421;p3_1000G_AF=0.483427;p3_1000G_AFR_AF=0.3684;p3_1000G_AMR_AF=0.5476;p3_1000G_AN=5008;p3_1000G_DP=17324;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.3917;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1424718;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1643,2763;ESP6500_AA_AGE=660.5+/-400.7;ESP6500_AA_GTC=293,1057,853;ESP6500_CDS_SIZES=NM_014461.2:3087;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=150;ESP6500_EA_AC=3654,4946;ESP6500_EA_AGE=623.5+/-397.5;ESP6500_EA_GTC=786,2082,1432;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014461.2:coding-synonymous;ESP6500_GL=CNTN6;ESP6500_GRCh38_POSITION=3:1383034;ESP6500_GTC=1079,3139,2285;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014461.2:c.2259G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014461.2:p.(V753);ESP6500_MAF=42.4884,37.2901,40.7274;ESP6500_TAC=5297,7709;CLINVAR_ALLELEID=389529;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.1383034G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CNTN6:27255;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2291101	GT:AD:DP:GQ:PL	0/1:27,29:56:99:681,0,846
chr3	1383166	rs2291100	T	G	1242.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.851;SOR=0.614;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2291100;dbSNPBuildID=100;ANN=G|synonymous_variant|LOW|CNTN6|CNTN6|transcript|NM_001289080.1|protein_coding|18/23|c.2391T>G|p.Ser797Ser|2936/3822|2391/3087|797/1028||,G|synonymous_variant|LOW|CNTN6|CNTN6|transcript|NM_001289081.1|protein_coding|17/22|c.2175T>G|p.Ser725Ser|2799/3685|2175/2871|725/956||,G|synonymous_variant|LOW|CNTN6|CNTN6|transcript|NM_014461.3|protein_coding|18/23|c.2391T>G|p.Ser797Ser|2945/3831|2391/3087|797/1028||;p3_1000G_AA=T|||;p3_1000G_AC=1325;p3_1000G_AF=0.264577;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=20256;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.3877;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1424850;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3507;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=404,4002;ESP6500_AA_AGE=200.8+/-224.0;ESP6500_AA_GTC=17,370,1816;ESP6500_CDS_SIZES=NM_014461.2:3087;ESP6500_CG=-12.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=114;ESP6500_EA_AC=3216,5384;ESP6500_EA_AGE=485.5+/-371.6;ESP6500_EA_GTC=597,2022,1681;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014461.2:coding-synonymous;ESP6500_GL=CNTN6;ESP6500_GRCh38_POSITION=3:1383166;ESP6500_GTC=614,2392,3497;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014461.2:c.2391T>G;ESP6500_HGVS_PROTEIN_VAR=NM_014461.2:p.(S797);ESP6500_MAF=37.3953,9.1693,27.8333;ESP6500_TAC=3620,9386	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1271,0,1235
chr3	1385520	rs3902441	T	A	382.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3902441;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289080.1|protein_coding|19/22|c.2518-91T>A||||||,A|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_001289081.1|protein_coding|18/21|c.2302-91T>A||||||,A|intron_variant|MODIFIER|CNTN6|CNTN6|transcript|NM_014461.3|protein_coding|19/22|c.2518-91T>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2506;p3_1000G_AF=0.500399;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.5447;p3_1000G_AN=5008;p3_1000G_DP=19662;p3_1000G_EAS_AF=0.6339;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=1427204;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:411,36,0
chr3	2629435	rs1351277	A	T	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.167;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.41;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1351277;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|3/23|c.55+57877A>T||||||,T|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|4/24|c.55+57877A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=832;p3_1000G_AF=0.166134;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=18457;p3_1000G_EAS_AF=0.1002;p3_1000G_EUR_AF=0.1998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2671119;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,5:12:99:126,0,186
chr3	2819648	rs1480676890	C	T	176.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.369;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-1.282;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|6/23|c.454+67C>T||||||,T|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|7/24|c.454+67C>T||||||	GT:AD:DP:GQ:PL	0/1:8,7:15:99:205,0,259
chr3	2883002	rs4685575	G	A	263.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.97;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4685575;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|7/23|c.653-143G>A||||||,A|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|8/24|c.653-143G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3062;p3_1000G_AF=0.611422;p3_1000G_AFR_AF=0.6732;p3_1000G_AMR_AF=0.5735;p3_1000G_AN=5008;p3_1000G_DP=17803;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.4742;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2924686;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:292,24,0
chr3	2883346	rs17646346	A	G	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=0;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17646346;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|8/23|c.755+99A>G||||||,G|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|9/24|c.755+99A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=662;p3_1000G_AF=0.132188;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=19608;p3_1000G_EAS_AF=0.0804;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2925030;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,2:3:29:76,0,29
chr3	2925502	rs1967176	A	G	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1967176;dbSNPBuildID=92;ANN=G|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|11/23|c.1208-127A>G||||||,G|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|12/24|c.1208-127A>G||||||,G|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|3/15|c.224-127A>G||||||,G|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|3/15|c.224-127A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.2595;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=16585;p3_1000G_EAS_AF=0.7143;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=2967186;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4877;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:89:98,0,89
chr3	3034600	rs6765545	G	C	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.97;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.265;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6765545;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|15/23|c.1784-32G>C||||||,C|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|16/24|c.1784-32G>C||||||,C|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|7/15|c.797-32G>C||||||,C|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|7/15|c.800-32G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1897;p3_1000G_AF=0.378794;p3_1000G_AFR_AF=0.3888;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=18555;p3_1000G_EAS_AF=0.4266;p3_1000G_EUR_AF=0.4722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3076284;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1714,2692;ESP6500_AA_AGE=510.4+/-367.5;ESP6500_AA_GTC=344,1026,833;ESP6500_CDS_SIZES=NM_175613.2:2097,NM_175607.2:3081,NM_001206956.1:2094,NM_001206955.1:3081;ESP6500_CG=3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=34;ESP6500_EA_AC=4006,4594;ESP6500_EA_AGE=550.8+/-385.8;ESP6500_EA_GTC=926,2154,1220;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175613.2:intron,NM_175607.2:intron,NM_001206956.1:intron,NM_001206955.1:intron;ESP6500_GL=CNTN4;ESP6500_GRCh38_POSITION=3:3034600;ESP6500_GTC=1270,3180,2053;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_175613.2:c.800-32G>C,NM_175607.2:c.1784-32G>C,NM_001206956.1:c.797-32G>C,NM_001206955.1:c.1784-32G>C;ESP6500_MAF=46.5814,38.9015,43.9797;ESP6500_TAC=5720,7286	GT:AD:DP:GQ:PL	0/1:11,10:21:99:326,0,377
chr3	3034717	rs6790908	C	T	765.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.038;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0.924;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-2.054;SOR=0.88;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6790908;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|16/24|c.1869C>T|p.Asn623Asn|2253/5206|1869/3081|623/1026||,T|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|17/25|c.1869C>T|p.Asn623Asn|2208/5161|1869/3081|623/1026||,T|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|8/16|c.882C>T|p.Asn294Asn|972/3925|882/2094|294/697||,T|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|8/16|c.885C>T|p.Asn295Asn|975/3928|885/2097|295/698||,T|downstream_gene_variant|MODIFIER|CNTN4-AS1|CNTN4-AS1|transcript|NR_046554.1|pseudogene||n.*4944G>A|||||4944|;p3_1000G_AA=C|||;p3_1000G_AC=2145;p3_1000G_AF=0.428315;p3_1000G_AFR_AF=0.525;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=16717;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.5487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3076401;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2278,2128;ESP6500_AA_AGE=597.5+/-388.9;ESP6500_AA_GTC=581,1116,506;ESP6500_CDS_SIZES=NM_175613.2:2097,NM_175607.2:3081,NM_001206956.1:2094,NM_001206955.1:3081;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=108;ESP6500_EA_AC=4602,3998;ESP6500_EA_AGE=599.8+/-394.1;ESP6500_EA_GTC=1220,2162,918;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175613.2:coding-synonymous,NM_175607.2:coding-synonymous,NM_001206956.1:coding-synonymous,NM_001206955.1:coding-synonymous;ESP6500_GL=CNTN4;ESP6500_GRCh38_POSITION=3:3034717;ESP6500_GTC=1801,3278,1424;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_175613.2:c.885C>T,NM_175607.2:c.1869C>T,NM_001206956.1:c.882C>T,NM_001206955.1:c.1869C>T;ESP6500_HGVS_PROTEIN_VAR=NM_175613.2:p.(N295),NM_175607.2:p.(N623),NM_001206956.1:p.(N294),NM_001206955.1:p.(N623);ESP6500_MAF=46.4884,48.2978,47.1013;ESP6500_TAC=6880,6126	GT:AD:DP:GQ:PL	0/1:34,33:67:99:794,0,918
chr3	3034759	rs6803232	A	G	875.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.599;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.033;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6803232;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|16/24|c.1911A>G|p.Pro637Pro|2295/5206|1911/3081|637/1026||,G|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|17/25|c.1911A>G|p.Pro637Pro|2250/5161|1911/3081|637/1026||,G|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|8/16|c.924A>G|p.Pro308Pro|1014/3925|924/2094|308/697||,G|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|8/16|c.927A>G|p.Pro309Pro|1017/3928|927/2097|309/698||,G|downstream_gene_variant|MODIFIER|CNTN4-AS1|CNTN4-AS1|transcript|NR_046554.1|pseudogene||n.*4902T>C|||||4902|;p3_1000G_AA=G|||;p3_1000G_AC=2806;p3_1000G_AF=0.560304;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.5403;p3_1000G_AN=5008;p3_1000G_DP=17731;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.659;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3076443;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3855;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3028,1378;ESP6500_AA_AGE=457.1+/-351.5;ESP6500_AA_GTC=1041,946,216;ESP6500_CDS_SIZES=NM_175613.2:2097,NM_175607.2:3081,NM_001206956.1:2094,NM_001206955.1:3081;ESP6500_CG=-7.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=118;ESP6500_EA_AC=5521,3079;ESP6500_EA_AGE=471.8+/-368.2;ESP6500_EA_GTC=1758,2005,537;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175613.2:coding-synonymous,NM_175607.2:coding-synonymous,NM_001206956.1:coding-synonymous,NM_001206955.1:coding-synonymous;ESP6500_GL=CNTN4;ESP6500_GRCh38_POSITION=3:3034759;ESP6500_GTC=2799,2951,753;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175613.2:c.927A>G,NM_175607.2:c.1911A>G,NM_001206956.1:c.924A>G,NM_001206955.1:c.1911A>G;ESP6500_HGVS_PROTEIN_VAR=NM_175613.2:p.(P309),NM_175607.2:p.(P637),NM_001206956.1:p.(P308),NM_001206955.1:p.(P637);ESP6500_MAF=35.8023,31.2755,34.2688;ESP6500_TAC=8549,4457	GT:AD:DP:GQ:PL	0/1:34,38:72:99:904,0,745
chr3	3038843	rs163543	C	T	164.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.47;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs163543;dbSNPBuildID=79;ANN=T|downstream_gene_variant|MODIFIER|CNTN4-AS1|CNTN4-AS1|transcript|NR_046554.1|pseudogene||n.*818G>A|||||818|,T|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|17/23|c.2093-90C>T||||||,T|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|18/24|c.2093-90C>T||||||,T|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|9/15|c.1106-90C>T||||||,T|intron_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|9/15|c.1109-90C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4910;p3_1000G_AF=0.980431;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9597;p3_1000G_AN=5008;p3_1000G_DP=18793;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9443;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3080527;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:193,18,0
chr3	3040066	rs6802588	A	T	682.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.677;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.204;SOR=0.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6802588;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|19/24|c.2193A>T|p.Arg731Arg|2577/5206|2193/3081|731/1026||,T|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|20/25|c.2193A>T|p.Arg731Arg|2532/5161|2193/3081|731/1026||,T|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|11/16|c.1206A>T|p.Arg402Arg|1296/3925|1206/2094|402/697||,T|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|11/16|c.1209A>T|p.Arg403Arg|1299/3928|1209/2097|403/698||,T|non_coding_transcript_exon_variant|MODIFIER|CNTN4-AS1|CNTN4-AS1|transcript|NR_046554.1|pseudogene|4/4|n.607T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1827;p3_1000G_AF=0.364816;p3_1000G_AFR_AF=0.09;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=20561;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.3668;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3081750;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4724;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=593,3813;ESP6500_AA_AGE=259.5+/-263.1;ESP6500_AA_GTC=35,523,1645;ESP6500_CDS_SIZES=NM_175613.2:2097,NM_175607.2:3081,NM_001206956.1:2094,NM_001206955.1:3081;ESP6500_CG=-1.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=110;ESP6500_EA_AC=3419,5181;ESP6500_EA_AGE=505.2+/-376.3;ESP6500_EA_GTC=698,2023,1579;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175613.2:coding-synonymous,NM_175607.2:coding-synonymous,NM_001206956.1:coding-synonymous,NM_001206955.1:coding-synonymous;ESP6500_GL=CNTN4;ESP6500_GRCh38_POSITION=3:3040066;ESP6500_GTC=733,2546,3224;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_175613.2:c.1209A>T,NM_175607.2:c.2193A>T,NM_001206956.1:c.1206A>T,NM_001206955.1:c.2193A>T;ESP6500_HGVS_PROTEIN_VAR=NM_175613.2:p.(R403),NM_175607.2:p.(R731),NM_001206956.1:p.(R402),NM_001206955.1:p.(R731);ESP6500_MAF=39.7558,13.4589,30.8473;ESP6500_TAC=4012,8994	GT:AD:DP:GQ:PL	0/1:26,30:56:99:711,0,646
chr3	3040141	rs339285	T	C	895.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.739;SOR=0.591;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs339285;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|19/24|c.2268T>C|p.Asp756Asp|2652/5206|2268/3081|756/1026||,C|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|20/25|c.2268T>C|p.Asp756Asp|2607/5161|2268/3081|756/1026||,C|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|11/16|c.1281T>C|p.Asp427Asp|1371/3925|1281/2094|427/697||,C|synonymous_variant|LOW|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|11/16|c.1284T>C|p.Asp428Asp|1374/3928|1284/2097|428/698||,C|non_coding_transcript_exon_variant|MODIFIER|CNTN4-AS1|CNTN4-AS1|transcript|NR_046554.1|pseudogene|4/4|n.532A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4490;p3_1000G_AF=0.896565;p3_1000G_AFR_AF=0.972;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=19967;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.9095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3081825;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4213,193;ESP6500_AA_AGE=121.7+/-159.2;ESP6500_AA_GTC=2016,181,6;ESP6500_CDS_SIZES=NM_175613.2:2097,NM_175607.2:3081,NM_001206956.1:2094,NM_001206955.1:3081;ESP6500_CG=-7.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=135;ESP6500_EA_AC=7862,738;ESP6500_EA_AGE=178.2+/-227.6;ESP6500_EA_GTC=3597,668,35;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175613.2:coding-synonymous,NM_175607.2:coding-synonymous,NM_001206956.1:coding-synonymous,NM_001206955.1:coding-synonymous;ESP6500_GL=CNTN4;ESP6500_GRCh38_POSITION=3:3040141;ESP6500_GTC=5613,849,41;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_175613.2:c.1284T>C,NM_175607.2:c.2268T>C,NM_001206956.1:c.1281T>C,NM_001206955.1:c.2268T>C;ESP6500_HGVS_PROTEIN_VAR=NM_175613.2:p.(D428),NM_175607.2:p.(D756),NM_001206956.1:p.(D427),NM_001206955.1:p.(D756);ESP6500_MAF=8.5814,4.3804,7.1582;ESP6500_TAC=12075,931	GT:AD:DP:GQ:PL	0/1:30,35:65:99:924,0,722
chr3	3056327	rs185071035	A	C	145.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.36;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.521;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs185071035;dbSNPBuildID=135;ANN=C|3_prime_UTR_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|24/24|c.*107A>C|||||107|,C|3_prime_UTR_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|25/25|c.*107A>C|||||107|,C|3_prime_UTR_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|16/16|c.*107A>C|||||107|,C|3_prime_UTR_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|16/16|c.*107A>C|||||107|,C|intron_variant|MODIFIER|CNTN4-AS1|CNTN4-AS1|transcript|NR_046554.1|pseudogene|1/3|n.79+4740T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=20;p3_1000G_AF=0.00399361;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16808;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3098011;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:174,0,253
chr3	3056357	rs163352	G	C	156.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.464;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs163352;dbSNPBuildID=79;ANN=C|3_prime_UTR_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206955.1|protein_coding|24/24|c.*137G>C|||||137|,C|3_prime_UTR_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175607.2|protein_coding|25/25|c.*137G>C|||||137|,C|3_prime_UTR_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_001206956.1|protein_coding|16/16|c.*137G>C|||||137|,C|3_prime_UTR_variant|MODIFIER|CNTN4|CNTN4|transcript|NM_175613.2|protein_coding|16/16|c.*137G>C|||||137|,C|intron_variant|MODIFIER|CNTN4-AS1|CNTN4-AS1|transcript|NR_046554.1|pseudogene|1/3|n.79+4710C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3513;p3_1000G_AF=0.701478;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.7205;p3_1000G_AN=5008;p3_1000G_DP=16066;p3_1000G_EAS_AF=0.87;p3_1000G_EUR_AF=0.7823;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3098041;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.637;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:55:185,0,55
chr3	3076458	rs17878995	G	T	185.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.005;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.256;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.799;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17878995;dbSNPBuildID=124;ANN=T|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_000564.4|protein_coding|11/12|c.1091+73C>A||||||,T|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_001243099.1|protein_coding|10/10|c.1091+73C>A||||||,T|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175726.3|protein_coding|10/11|c.1091+73C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=599;p3_1000G_AF=0.119609;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=20375;p3_1000G_EAS_AF=0.0615;p3_1000G_EUR_AF=0.2575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3118142;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,8:14:99:214,0,177
chr3	3095471	rs11389765;rs397796011;rs869076876	A	AT	496.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.14;SOR=2.948;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11389765;dbSNPBuildID=126,147,138;ANN=AT|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_000564.4|protein_coding|8/12|c.710-28dupA||||||,AT|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_001243099.1|protein_coding|7/10|c.710-28dupA||||||,AT|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175726.3|protein_coding|7/11|c.710-28dupA||||||,AT|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175725.2|protein_coding|8/10|c.710-28dupA||||||,AT|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175728.2|protein_coding|7/9|c.710-28dupA||||||,AT|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175724.2|protein_coding|8/9|c.710-28dupA||||||,AT|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175727.2|protein_coding|7/8|c.710-28dupA||||||;p3_1000G_AC=3401;p3_1000G_AF=0.679113;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=18131;p3_1000G_EAS_AF=0.7024;p3_1000G_EUR_AF=0.6998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3137155;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7393;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,19:19:57:534,57,0
chr3	3098273	rs2290610	T	C	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.92;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.054;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=0.3;SOR=1.55;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290610;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|IL5RA|IL5RA|transcript|NM_000564.4|protein_coding|7/13|c.385A>G|p.Ile129Val|1029/5808|385/1263|129/420||,C|missense_variant|MODERATE|IL5RA|IL5RA|transcript|NM_001243099.1|protein_coding|6/11|c.385A>G|p.Ile129Val|960/5654|385/1137|129/378||,C|missense_variant|MODERATE|IL5RA|IL5RA|transcript|NM_175726.3|protein_coding|6/12|c.385A>G|p.Ile129Val|960/5739|385/1263|129/420||,C|missense_variant|MODERATE|IL5RA|IL5RA|transcript|NM_175725.2|protein_coding|7/11|c.385A>G|p.Ile129Val|1029/1722|385/1008|129/335||,C|missense_variant|MODERATE|IL5RA|IL5RA|transcript|NM_175728.2|protein_coding|6/10|c.385A>G|p.Ile129Val|960/1653|385/1008|129/335||,C|missense_variant|MODERATE|IL5RA|IL5RA|transcript|NM_175724.2|protein_coding|7/10|c.385A>G|p.Ile129Val|1029/2052|385/1002|129/333||,C|missense_variant|MODERATE|IL5RA|IL5RA|transcript|NM_175727.2|protein_coding|6/9|c.385A>G|p.Ile129Val|960/1983|385/1002|129/333||;p3_1000G_AA=T|||;p3_1000G_AC=2144;p3_1000G_AF=0.428115;p3_1000G_AFR_AF=0.4047;p3_1000G_AMR_AF=0.3991;p3_1000G_AN=5008;p3_1000G_DP=21287;p3_1000G_EAS_AF=0.4097;p3_1000G_EUR_AF=0.3489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3139957;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1726,2680;ESP6500_AA_AGE=515.0+/-368.8;ESP6500_AA_GTC=340,1046,817;ESP6500_CDS_SIZES=NM_175728.2:1008,NM_175727.2:1002,NM_175726.3:1263,NM_175725.2:1008,NM_175724.2:1002,NM_001243099.1:1137,NM_000564.4:1263;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=166;ESP6500_EA_AC=3152,5448;ESP6500_EA_AGE=478.0+/-369.8;ESP6500_EA_GTC=581,1990,1729;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_175728.2:missense,NM_175727.2:missense,NM_175726.3:missense,NM_175725.2:missense,NM_175724.2:missense,NM_001243099.1:missense,NM_000564.4:missense;ESP6500_GL=IL5RA;ESP6500_GRCh38_POSITION=3:3098273;ESP6500_GS=29,29,29,29,29,29,29;ESP6500_GTC=921,3036,2546;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_175728.2:c.385A>G,NM_175727.2:c.385A>G,NM_175726.3:c.385A>G,NM_175725.2:c.385A>G,NM_175724.2:c.385A>G,NM_001243099.1:c.385A>G,NM_000564.4:c.385A>G;ESP6500_HGVS_PROTEIN_VAR=NM_175728.2:p.(I129V),NM_175727.2:p.(I129V),NM_175726.3:p.(I129V),NM_175725.2:p.(I129V),NM_175724.2:p.(I129V),NM_001243099.1:p.(I129V),NM_000564.4:p.(I129V);ESP6500_MAF=36.6512,39.1739,37.5058;ESP6500_PH=benign:0.001,benign:0.001,benign:0.001,benign:0.001,benign:0.001,benign:0.001,benign:0.001;ESP6500_TAC=4878,8128	GT:AD:DP:GQ:PL	0/1:11,14:25:99:477,0,310
chr3	3102562	rs2257283	T	A	186.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3856847;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_000564.4|protein_coding|5/12|c.228+113A>T||||||,A|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_001243099.1|protein_coding|4/10|c.228+113A>T||||||,A|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175726.3|protein_coding|4/11|c.228+113A>T||||||,A|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175725.2|protein_coding|5/10|c.228+113A>T||||||,A|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175728.2|protein_coding|4/9|c.228+113A>T||||||,A|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175724.2|protein_coding|5/9|c.228+113A>T||||||,A|intron_variant|MODIFIER|IL5RA|IL5RA|transcript|NM_175727.2|protein_coding|4/8|c.228+113A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4165;p3_1000G_AF=0.831669;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DEPRECATED_RSID=rs3856847;p3_1000G_DP=17462;p3_1000G_EAS_AF=0.7688;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3144246;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.91;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:215,18,0
chr3	3129108	rs334773;403570	C	T	1221.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs334773;dbSNPBuildID=79;ANN=T|missense_variant|MODERATE|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|2/8|c.68C>T|p.Pro23Leu|170/2275|68/1305|23/434||,T|missense_variant|MODERATE|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|2/8|c.68C>T|p.Pro23Leu|170/2215|68/1245|23/414||;p3_1000G_AA=T|||;p3_1000G_AC=4530;p3_1000G_AF=0.904553;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=17444;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3170792;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3142,1264;ESP6500_AA_AGE=433.1+/-343.5;ESP6500_AA_GTC=1135,872,196;ESP6500_CDS_SIZES=NM_182916.2:1305;ESP6500_CG=3.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=115;ESP6500_EA_AC=8587,13;ESP6500_EA_AGE=8.4+/-32.0;ESP6500_EA_GTC=4287,13,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_182916.2:missense;ESP6500_GL=TRNT1;ESP6500_GRCh38_POSITION=3:3129108;ESP6500_GS=98;ESP6500_GTC=5422,885,196;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182916.2:c.68C>T;ESP6500_HGVS_PROTEIN_VAR=NM_182916.2:p.(P23L);ESP6500_MAF=0.1512,28.6882,9.8185;ESP6500_PH=benign:0.0;ESP6500_TAC=11729,1277;CLINVAR_ALLELEID=389592;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.3129108C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TRNT1:51095;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=334773	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1250,126,0
chr3	3129226	rs334772	A	G	659.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.72;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs334772;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|2/7|c.148+38A>G||||||,G|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|2/7|c.148+38A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4503;p3_1000G_AF=0.899161;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=21515;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3170910;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3103,1303;ESP6500_AA_AGE=420.0+/-338.9;ESP6500_AA_GTC=1109,885,209;ESP6500_CDS_SIZES=NM_182916.2:1305;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=35;ESP6500_EA_AC=8586,14;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=4286,14,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182916.2:intron;ESP6500_GL=TRNT1;ESP6500_GRCh38_POSITION=3:3129226;ESP6500_GTC=5395,899,209;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182916.2:c.148+38A>G;ESP6500_MAF=0.1628,29.5733,10.1261;ESP6500_TAC=11689,1317	GT:AD:DP:GQ:PL	1/1:0,19:19:57:688,57,0
chr3	3129776	rs334769	C	T	558.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.94;SOR=2.093;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs334769;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|2/7|c.148+588C>T||||||,T|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|2/7|c.148+588C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4529;p3_1000G_AF=0.904353;p3_1000G_AFR_AF=0.6581;p3_1000G_AMR_AF=0.9683;p3_1000G_AN=5008;p3_1000G_DP=22530;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3171460;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:59:587,59,0
chr3	3129818	rs334768	C	A	1025.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.08;SOR=1.352;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs334768;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|2/7|c.148+630C>A||||||,A|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|2/7|c.148+630C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1896;p3_1000G_AF=0.378594;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=20986;p3_1000G_EAS_AF=0.2143;p3_1000G_EUR_AF=0.675;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3171502;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1054,99,0
chr3	3130029	rs113671187	G	GCCTGACT	456.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.73;SOR=4.977;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs113671187,rs55981857;dbSNPBuildID=132;ANN=GCCTGACT|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|2/7|c.148+843_148+844insTGACTCC||||||INFO_REALIGN_3_PRIME,GCCTGACT|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|2/7|c.148+843_148+844insTGACTCC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4503;p3_1000G_AF=0.899161;p3_1000G_AFR_AF=0.6392;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=20505;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3171713;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,11:11:33:494,33,0
chr3	3136638	rs186743	G	A	1712.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=1.342;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs186743;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|2/7|c.149-622G>A||||||,A|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|2/7|c.149-622G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2528;p3_1000G_AF=0.504792;p3_1000G_AFR_AF=0.3449;p3_1000G_AMR_AF=0.6167;p3_1000G_AN=5008;p3_1000G_DP=18505;p3_1000G_EAS_AF=0.2788;p3_1000G_EUR_AF=0.7942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3178322;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1741,171,0
chr3	3136658	rs56033417;rs879340744	CT	C	54.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.23;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=4.752;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=-0.906;SOR=1.153;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs56033417;dbSNPBuildID=149,129;ANN=C|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|2/7|c.149-588delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|2/7|c.149-588delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:11,6:17:92:92,0,230
chr3	3145502	rs771925089	CAAA	C	550.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=30.97;SOR=0.874;DEL;HOM;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding||c.*5360_*5362delTTT|||||4130|,C|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding||c.*5360_*5362delTTT|||||4130|,C|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|5/7|c.608+811_608+813delAAA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|5/7|c.608+811_608+813delAAA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,10:10:33:517,33,0
chr3	3146678	rs1672772	A	G	411.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.31;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1672772;dbSNPBuildID=89;ANN=G|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding||c.*4187T>C|||||2955|,G|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding||c.*4187T>C|||||2955|,G|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|6/7|c.802+55A>G||||||,G|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|6/7|c.742+115A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3699;p3_1000G_AF=0.738618;p3_1000G_AFR_AF=0.4297;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=19500;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.837;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3188362;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:440,36,0
chr3	3147375	rs1621648	T	C	436.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.24;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1621648;dbSNPBuildID=89;ANN=C|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding||c.*3490A>G|||||2258|,C|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding||c.*3490A>G|||||2258|,C|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|6/7|c.803-75T>C||||||,C|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|6/7|c.743-75T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4528;p3_1000G_AF=0.904153;p3_1000G_AFR_AF=0.6558;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=19989;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3189059;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:465,36,0
chr3	3147456	rs527331900;rs187921784;475270	C	CTAAACT	550.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.835;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.55;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-0.874;SOR=0.352;INS;HET;VARTYPE=INS;dbSNPBuildID=142;ANN=CTAAACT|conservative_inframe_insertion|MODERATE|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|7/8|c.810_811insAAACTT|p.Pro270_Ala271insLysLeu|913/2275|811/1305|271/434||INFO_REALIGN_3_PRIME,CTAAACT|conservative_inframe_insertion|MODERATE|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|7/8|c.750_751insAAACTT|p.Pro250_Ala251insLysLeu|853/2215|751/1245|251/414||INFO_REALIGN_3_PRIME,CTAAACT|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding||c.*3408_*3409insAGTTTA|||||2176|,CTAAACT|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding||c.*3408_*3409insAGTTTA|||||2176|;p3_1000G_AC=26;p3_1000G_AF=0.00519169;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19370;p3_1000G_EAS_AF=0.0188;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3189140;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0061;p3_1000G_VT=SNP,INDEL;CLINVAR_ALLELEID=452316;CLINVAR_CLNDISDB=MedGen:C4015172,OMIM:616084,Orphanet:ORPHA369861;CLINVAR_CLNDN=Sideroblastic_anemia_with_B-cell_immunodeficiency,_periodic_fevers,_and_developmental_delay;CLINVAR_CLNHGVS=NC_000003.12:g.3147457_3147458insAAACTT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_GENEINFO=TRNT1:51095;CLINVAR_ORIGIN=1	GT:AD:DP:GQ:PL	0/1:14,15:29:99:588,0,543
chr3	3147595	rs1705805;380145	A	G	908.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.66;SOR=1.528;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1705805;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|7/8|c.948A>G|p.Ala316Ala|1050/2275|948/1305|316/434||,G|synonymous_variant|LOW|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|7/8|c.888A>G|p.Ala296Ala|990/2215|888/1245|296/414||,G|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding||c.*3270T>C|||||2038|,G|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding||c.*3270T>C|||||2038|;p3_1000G_AA=A|||;p3_1000G_AC=3701;p3_1000G_AF=0.739018;p3_1000G_AFR_AF=0.4319;p3_1000G_AMR_AF=0.755;p3_1000G_AN=5008;p3_1000G_DP=16584;p3_1000G_EAS_AF=0.9494;p3_1000G_EUR_AF=0.837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3189279;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2310,2096;ESP6500_AA_AGE=557.0+/-379.6;ESP6500_AA_GTC=624,1062,517;ESP6500_CDS_SIZES=NM_182916.2:1305;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=80;ESP6500_EA_AC=7232,1366;ESP6500_EA_AGE=743.1+/-407.2;ESP6500_EA_GTC=3049,1134,116;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182916.2:coding-synonymous;ESP6500_GL=TRNT1;ESP6500_GRCh38_POSITION=3:3147595;ESP6500_GTC=3673,2196,633;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182916.2:c.948A>G;ESP6500_HGVS_PROTEIN_VAR=NM_182916.2:p.(A316);ESP6500_MAF=15.8874,47.5715,26.6226;ESP6500_TAC=9542,3462;CLINVAR_ALLELEID=367091;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.3147595A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TRNT1:51095;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1705805	GT:AD:DP:GQ:PL	1/1:0,27:27:81:937,81,0
chr3	3147714	rs1669348;380146	A	G	410.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.23;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1669348;dbSNPBuildID=89;ANN=G|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding||c.*3151T>C|||||1919|,G|downstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding||c.*3151T>C|||||1919|,G|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding|7/7|c.1056+11A>G||||||,G|intron_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding|7/7|c.996+11A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2007;p3_1000G_AF=0.400759;p3_1000G_AFR_AF=0.3018;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=16865;p3_1000G_EAS_AF=0.2163;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3189398;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4305;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1598,2470;ESP6500_AA_GTC=330,938,766;ESP6500_CDS_SIZES=NM_182916.2:1305;ESP6500_CG=-7.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=39;ESP6500_EA_AC=5683,2795;ESP6500_EA_GTC=1919,1845,475;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182916.2:intron;ESP6500_GL=TRNT1;ESP6500_GRCh38_POSITION=3:3147714;ESP6500_GTC=2249,2783,1241;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_182916.2:c.1056+11A>G;ESP6500_MAF=32.9677,39.2822,41.9656;ESP6500_TAC=7281,5265;CLINVAR_ALLELEID=367093;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.3147714A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=TRNT1:51095;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1669348	GT:AD:DP:GQ:PL	1/1:0,12:12:36:439,36,0
chr3	3150840	rs4183	A	ATAAC	1222.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.2;SOR=2.066;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs4183;dbSNPBuildID=36;ANN=ATAAC|3_prime_UTR_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|11/11|c.*21_*24dupGTTA|||||24|,ATAAC|3_prime_UTR_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|11/11|c.*21_*24dupGTTA|||||24|,ATAAC|downstream_gene_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_182916.2|protein_coding||c.*2686_*2687insTAAC|||||1819|,ATAAC|downstream_gene_variant|MODIFIER|TRNT1|TRNT1|transcript|NM_001302946.1|protein_coding||c.*2686_*2687insTAAC|||||1819|;ESP6500_AA_AC=1461,2805;ESP6500_AA_GTC=274,913,946;ESP6500_CDS_SIZES=NM_016302.3:1329,NM_001173482.1:1326;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_36;ESP6500_DP=44;ESP6500_EA_AC=5538,2716;ESP6500_EA_GTC=1857,1824,446;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016302.3:utr-3,NM_001173482.1:utr-3;ESP6500_GL=CRBN;ESP6500_GRCh38_POSITION=3:3150840;ESP6500_GTC=2131,2737,1392;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_016302.3:c.*24_*25insGTTA,NM_001173482.1:c.*24_*25insGTTA;ESP6500_MAF=32.9053,34.2475,44.0974;ESP6500_TAC=6999,5521	GT:AD:DP:GQ:PL	1/1:0,27:27:84:1260,84,0
chr3	3156187	rs1705789	T	C	412.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.52;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1705789;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|6/10|c.750+32A>G||||||,C|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|6/10|c.747+32A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4530;p3_1000G_AF=0.904553;p3_1000G_AFR_AF=0.6573;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=18377;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3197871;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3182,1224;ESP6500_AA_AGE=697.4+/-406.2;ESP6500_AA_GTC=1171,840,192;ESP6500_CDS_SIZES=NM_016302.3:1329,NM_001173482.1:1326;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=52;ESP6500_EA_AC=8587,13;ESP6500_EA_AGE=816.0+/-406.9;ESP6500_EA_GTC=4287,13,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016302.3:intron,NM_001173482.1:intron;ESP6500_GL=CRBN;ESP6500_GRCh38_POSITION=3:3156187;ESP6500_GTC=5458,853,192;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016302.3:c.750+32A>G,NM_001173482.1:c.747+32A>G;ESP6500_MAF=0.1512,27.7803,9.511;ESP6500_TAC=11769,1237	GT:AD:DP:GQ:PL	1/1:0,15:15:45:441,45,0
chr3	3174270	rs1669321;128855	A	G	794.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1669321;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|2/10|c.175-9T>C||||||,G|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|2/10|c.172-9T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4426;p3_1000G_AF=0.883786;p3_1000G_AFR_AF=0.5794;p3_1000G_AMR_AF=0.9712;p3_1000G_AN=5008;p3_1000G_DP=20828;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.994;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3215954;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2891,1515;ESP6500_AA_AGE=475.7+/-357.4;ESP6500_AA_GTC=967,957,279;ESP6500_CDS_SIZES=NM_016302.3:1329,NM_001173482.1:1326;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=42;ESP6500_EA_AC=8580,20;ESP6500_EA_AGE=11.9+/-42.8;ESP6500_EA_GTC=4280,20,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016302.3:intron,NM_001173482.1:intron;ESP6500_GL=CRBN;ESP6500_GRCh38_POSITION=3:3174270;ESP6500_GTC=5247,977,279;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016302.3:c.175-9T>C,NM_001173482.1:c.172-9T>C;ESP6500_MAF=0.2326,34.3849,11.8022;ESP6500_TAC=11471,1535;CLINVAR_ALLELEID=134303;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.3174270A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CRBN:51185;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1669321	GT:AD:DP:GQ:PL	1/1:0,22:22:66:823,66,0
chr3	3175030	rs77585218	T	A	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.56;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs77585218;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|2/10|c.174+133A>T||||||,A|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|2/10|c.171+133A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2548;p3_1000G_AF=0.508786;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=12751;p3_1000G_EAS_AF=0.2579;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3216714;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:3175030_T_A:405,27,0
chr3	3175032	rs116480455	G	T	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.62;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs116480455;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|2/10|c.174+131C>A||||||,T|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|2/10|c.171+131C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2548;p3_1000G_AF=0.508786;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=12563;p3_1000G_EAS_AF=0.2579;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3216716;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:3175030_T_A:405,27,0
chr3	3175033	rs115361677	C	T	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.17;SOR=4.615;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs115361677;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|2/10|c.174+130G>A||||||,T|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|2/10|c.171+130G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2548;p3_1000G_AF=0.508786;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=12531;p3_1000G_EAS_AF=0.2579;p3_1000G_EUR_AF=0.8012;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3216717;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:3175030_T_A:405,27,0
chr3	3175037	rs147502997	T	TG	367.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.8;SOR=4.615;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs147502997;dbSNPBuildID=134;ANN=TG|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|2/10|c.174+125_174+126insC||||||,TG|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|2/10|c.171+125_171+126insC||||||;p3_1000G_AA=-|-|G|insertion;p3_1000G_AC=40;p3_1000G_AF=0.00798722;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=12989;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0.0199;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3216721;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:3175030_T_A:405,27,0
chr3	3175039	rs374641314	G	GGA	367.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26;SOR=4.615;INS;HOM;VARTYPE=INS;dbSNPBuildID=138;ANN=GGA|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|2/10|c.174+123_174+124insTC||||||,GGA|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|2/10|c.171+123_171+124insTC||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,9:9:27:1|1:3175030_T_A:405,27,0
chr3	3175040	rs367608520	C	CT	367.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.02;SOR=4.407;INS;HOM;VARTYPE=INS;dbSNPBuildID=138;ANN=CT|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|2/10|c.174+122_174+123insA||||||,CT|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|2/10|c.171+122_171+123insA||||||;p3_1000G_AA=-|-|T|insertion;p3_1000G_AC=2554;p3_1000G_AF=0.509984;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=14717;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.8022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3216724;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:27:1|1:3175030_T_A:405,27,0
chr3	3175041	rs148260930	C	A	376.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs148260930;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding|2/10|c.174+122G>T||||||,A|intron_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding|2/10|c.171+122G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2554;p3_1000G_AF=0.509984;p3_1000G_AFR_AF=0.3767;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=14479;p3_1000G_EAS_AF=0.2589;p3_1000G_EUR_AF=0.8022;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3216725;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:27:1|1:3175030_T_A:405,27,0
chr3	3179746	rs1672753	C	T	1073.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.68;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1672753;dbSNPBuildID=89;ANN=T|upstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_016302.3|protein_coding||c.-59G>A|||||29|,T|upstream_gene_variant|MODIFIER|CRBN|CRBN|transcript|NM_001173482.1|protein_coding||c.-59G>A|||||29|,T|intergenic_region|MODIFIER|CRBN-LRRN1|CRBN-LRRN1|intergenic_region|CRBN-LRRN1|||n.3179746C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3611;p3_1000G_AF=0.721046;p3_1000G_AFR_AF=0.4092;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=13595;p3_1000G_EAS_AF=0.9464;p3_1000G_EUR_AF=0.8221;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3221430;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7863;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=708,676;ESP6500_AA_GTC=177,354,161;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=19;ESP6500_EA_AC=2612,570;ESP6500_EA_GTC=1075,462,54;ESP6500_EXOME_CHIP=no;ESP6500_FG=near-gene-5;ESP6500_GRCh38_POSITION=3:3179746;ESP6500_GTC=1252,816,215;ESP6500_GTS=TT,TC,CC;ESP6500_MAF=17.9133,48.8439,27.2887;ESP6500_TAC=3320,1246	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1102,105,0
chr3	3844896	rs4685689	A	G	2761.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4685689;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324188.1|protein_coding|3/3|c.255A>G|p.Ala85Ala|1304/6242|255/2151|85/716||,G|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324189.1|protein_coding|3/3|c.255A>G|p.Ala85Ala|1227/6165|255/2151|85/716||,G|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_020873.6|protein_coding|2/2|c.255A>G|p.Ala85Ala|1022/5960|255/2151|85/716||;p3_1000G_AA=G|||;p3_1000G_AC=4942;p3_1000G_AF=0.986821;p3_1000G_AFR_AF=0.9546;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20941;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3886580;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4177,229;ESP6500_AA_AGE=137.3+/-173.1;ESP6500_AA_GTC=1981,215,7;ESP6500_CDS_SIZES=NM_020873.5:2151;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=79;ESP6500_EA_AC=8598,2;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=4298,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020873.5:coding-synonymous;ESP6500_GL=LRRN1;ESP6500_GRCh38_POSITION=3:3844896;ESP6500_GTC=6279,217,7;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020873.5:c.255A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020873.5:p.(A85);ESP6500_MAF=0.0233,5.1975,1.7761;ESP6500_TAC=12775,231	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2790,249,0
chr3	3845037	rs3749350	C	A	837.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.24;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0.971;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.38;SOR=0.715;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749350;dbSNPBuildID=107;ANN=A|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324188.1|protein_coding|3/3|c.396C>A|p.Thr132Thr|1445/6242|396/2151|132/716||,A|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324189.1|protein_coding|3/3|c.396C>A|p.Thr132Thr|1368/6165|396/2151|132/716||,A|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_020873.6|protein_coding|2/2|c.396C>A|p.Thr132Thr|1163/5960|396/2151|132/716||;p3_1000G_AA=A|||;p3_1000G_AC=1458;p3_1000G_AF=0.291134;p3_1000G_AFR_AF=0.4047;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=20305;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.1074;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3886721;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1584,2822;ESP6500_AA_AGE=658.8+/-400.5;ESP6500_AA_GTC=301,982,920;ESP6500_CDS_SIZES=NM_020873.5:2151;ESP6500_CG=-11.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=72;ESP6500_EA_AC=1090,7510;ESP6500_EA_AGE=768.9+/-407.6;ESP6500_EA_GTC=67,956,3277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020873.5:coding-synonymous;ESP6500_GL=LRRN1;ESP6500_GRCh38_POSITION=3:3845037;ESP6500_GTC=368,1938,4197;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020873.5:c.396C>A;ESP6500_HGVS_PROTEIN_VAR=NM_020873.5:p.(T132);ESP6500_MAF=12.6744,35.951,20.5597;ESP6500_TAC=2674,10332	GT:AD:DP:GQ:PL	0/1:30,32:62:99:866,0,832
chr3	3845163	rs3749349	G	C	860.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.13;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=5.223;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.32;SOR=1.514;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749349;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324188.1|protein_coding|3/3|c.522G>C|p.Leu174Leu|1571/6242|522/2151|174/716||,C|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324189.1|protein_coding|3/3|c.522G>C|p.Leu174Leu|1494/6165|522/2151|174/716||,C|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_020873.6|protein_coding|2/2|c.522G>C|p.Leu174Leu|1289/5960|522/2151|174/716||;p3_1000G_AA=G|||;p3_1000G_AC=1070;p3_1000G_AF=0.213658;p3_1000G_AFR_AF=0.295;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=18549;p3_1000G_EAS_AF=0.2679;p3_1000G_EUR_AF=0.1044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3886847;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1040,3366;ESP6500_AA_AGE=371.0+/-319.8;ESP6500_AA_GTC=118,804,1281;ESP6500_CDS_SIZES=NM_020873.5:2151;ESP6500_CG=-4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=102;ESP6500_EA_AC=1063,7537;ESP6500_EA_AGE=223.1+/-260.0;ESP6500_EA_GTC=63,937,3300;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020873.5:coding-synonymous;ESP6500_GL=LRRN1;ESP6500_GRCh38_POSITION=3:3845163;ESP6500_GTC=181,1741,4581;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_020873.5:c.522G>C;ESP6500_HGVS_PROTEIN_VAR=NM_020873.5:p.(L174);ESP6500_MAF=12.3605,23.6042,16.1695;ESP6500_TAC=2103,10903	GT:AD:DP:GQ:PL	0/1:31,31:62:99:889,0,848
chr3	3845235	rs3749348	C	T	639.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.908;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=2.319;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.07;SOR=0.65;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749348;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324188.1|protein_coding|3/3|c.594C>T|p.Ile198Ile|1643/6242|594/2151|198/716||,T|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324189.1|protein_coding|3/3|c.594C>T|p.Ile198Ile|1566/6165|594/2151|198/716||,T|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_020873.6|protein_coding|2/2|c.594C>T|p.Ile198Ile|1361/5960|594/2151|198/716||;p3_1000G_AA=C|||;p3_1000G_AC=1060;p3_1000G_AF=0.211661;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=18416;p3_1000G_EAS_AF=0.2619;p3_1000G_EUR_AF=0.1024;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3886919;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2076;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1036,3370;ESP6500_AA_AGE=371.2+/-319.9;ESP6500_AA_GTC=112,812,1279;ESP6500_CDS_SIZES=NM_020873.5:2151;ESP6500_CG=1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=123;ESP6500_EA_AC=1051,7549;ESP6500_EA_AGE=220.8+/-258.4;ESP6500_EA_GTC=61,929,3310;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020873.5:coding-synonymous;ESP6500_GL=LRRN1;ESP6500_GRCh38_POSITION=3:3845235;ESP6500_GTC=173,1741,4589;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020873.5:c.594C>T;ESP6500_HGVS_PROTEIN_VAR=NM_020873.5:p.(I198);ESP6500_MAF=12.2209,23.5134,16.0464;ESP6500_TAC=2087,10919	GT:AD:DP:GQ:PL	0/1:28,26:54:99:668,0,812
chr3	3846192	rs2120609	T	C	1082.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.04;ClippingRankSum=0;DP=68;ExcessHet=3.0103;FS=3.357;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=-0.239;SOR=0.364;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2120609;dbSNPBuildID=96;ANN=C|sequence_feature|MODERATE|LRRN1|LRRN1|glycosylation-site:N-linked_(GlcNAc...)|NM_020873.6|protein_coding|2/2|c.1551T>C||||||,C|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324188.1|protein_coding|3/3|c.1551T>C|p.Asn517Asn|2600/6242|1551/2151|517/716||,C|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_001324189.1|protein_coding|3/3|c.1551T>C|p.Asn517Asn|2523/6165|1551/2151|517/716||,C|synonymous_variant|LOW|LRRN1|LRRN1|transcript|NM_020873.6|protein_coding|2/2|c.1551T>C|p.Asn517Asn|2318/5960|1551/2151|517/716||;p3_1000G_AA=T|||;p3_1000G_AC=2396;p3_1000G_AF=0.478435;p3_1000G_AFR_AF=0.4274;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=20997;p3_1000G_EAS_AF=0.254;p3_1000G_EUR_AF=0.7336;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=3887876;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2009,2397;ESP6500_AA_AGE=558.7+/-380.1;ESP6500_AA_GTC=446,1117,640;ESP6500_CDS_SIZES=NM_020873.5:2151;ESP6500_CG=-1.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=80;ESP6500_EA_AC=6199,2401;ESP6500_EA_AGE=697.4+/-404.9;ESP6500_EA_GTC=2248,1703,349;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020873.5:coding-synonymous;ESP6500_GL=LRRN1;ESP6500_GRCh38_POSITION=3:3846192;ESP6500_GTC=2694,2820,989;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020873.5:c.1551T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020873.5:p.(N517);ESP6500_MAF=27.9186,45.5969,36.8907;ESP6500_TAC=8208,4798	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1111,0,743
chr3	4411053	rs813811	G	A	825.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.03;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs813811;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SUMF1|SUMF1|transcript|NM_182760.3|protein_coding|6/8|c.841-75C>T||||||,A|intron_variant|MODIFIER|SUMF1|SUMF1|transcript|NM_001164674.1|protein_coding|5/7|c.766-75C>T||||||,A|intron_variant|MODIFIER|SUMF1|SUMF1|transcript|NM_001164675.1|protein_coding|6/7|c.841-75C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2903;p3_1000G_AF=0.579673;p3_1000G_AFR_AF=0.6589;p3_1000G_AMR_AF=0.6282;p3_1000G_AN=5008;p3_1000G_DP=20415;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.6938;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4452737;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:854,75,0
chr3	4420014	rs711666;263009	C	T	1116.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.18;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs711666;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SUMF1|SUMF1|transcript|NM_182760.3|protein_coding|4/8|c.602+50G>A||||||,T|intron_variant|MODIFIER|SUMF1|SUMF1|transcript|NM_001164674.1|protein_coding|3/7|c.527+50G>A||||||,T|intron_variant|MODIFIER|SUMF1|SUMF1|transcript|NM_001164675.1|protein_coding|4/7|c.602+50G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4441;p3_1000G_AF=0.886781;p3_1000G_AFR_AF=0.6505;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=19394;p3_1000G_EAS_AF=0.9851;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4461698;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9366;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3076,1330;ESP6500_AA_AGE=443.9+/-347.2;ESP6500_AA_GTC=1088,900,215;ESP6500_CDS_SIZES=NM_182760.3:1125,NM_001164675.1:1065,NM_001164674.1:1050;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=40;ESP6500_EA_AC=8581,19;ESP6500_EA_AGE=13.3+/-46.6;ESP6500_EA_GTC=4281,19,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182760.3:intron,NM_001164675.1:intron,NM_001164674.1:intron;ESP6500_GL=SUMF1;ESP6500_GRCh38_POSITION=3:4420014;ESP6500_GTC=5369,919,215;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182760.3:c.602+50G>A,NM_001164675.1:c.602+50G>A,NM_001164674.1:c.527+50G>A;ESP6500_MAF=0.2209,30.1861,10.3721;ESP6500_TAC=11657,1349;CLINVAR_ALLELEID=251142;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.4420014C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SUMF1:285362;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=711666	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1145,111,0
chr3	4520983	rs1038639	T	G	428.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.63;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1038639;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|3/60|c.93-41T>G||||||,G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|3/58|c.93-41T>G||||||,G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|3/57|c.93-41T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2461;p3_1000G_AF=0.491414;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.4986;p3_1000G_AN=5008;p3_1000G_DP=20052;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.5716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4562667;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7638;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=516,3204;ESP6500_AA_GTC=29,458,1373;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=5.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=68;ESP6500_EA_AC=4706,3492;ESP6500_EA_GTC=1367,1972,760;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002222.5:intron,NM_001168272.1:intron,NM_001099952.2:intron;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4520983;ESP6500_GTC=1396,2430,2133;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.93-41T>G,NM_001168272.1:c.93-41T>G,NM_001099952.2:c.93-41T>G;ESP6500_MAF=42.5958,13.871,43.8161;ESP6500_TAC=5222,6696	GT:AD:DP:GQ:PL	1/1:0,14:14:42:457,42,0
chr3	4645786	rs397695940;rs5846330	G	GCT	264.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.09;SOR=4.407;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5846330;dbSNPBuildID=130,138;ANN=GCT|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|10/60|c.855+71_855+72dupCT||||||INFO_REALIGN_3_PRIME,GCT|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|10/58|c.855+71_855+72dupCT||||||INFO_REALIGN_3_PRIME,GCT|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|10/57|c.855+71_855+72dupCT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,8:8:24:302,24,0
chr3	4652253	rs6442895	G	C	1255.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=2.432;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6442895;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|11/60|c.951+35G>C||||||,C|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|11/58|c.951+35G>C||||||,C|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|11/57|c.951+35G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4141;p3_1000G_AF=0.826877;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.8516;p3_1000G_AN=5008;p3_1000G_DP=19994;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8429;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4693937;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2449,1581;ESP6500_AA_GTC=725,999,291;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=53;ESP6500_EA_AC=6929,1413;ESP6500_EA_GTC=2877,1175,119;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002222.5:intron,NM_001168272.1:intron,NM_001099952.2:intron;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4652253;ESP6500_GTC=3602,2174,410;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.951+35G>C,NM_001168272.1:c.951+35G>C,NM_001099952.2:c.951+35G>C;ESP6500_MAF=16.9384,39.2308,24.1998;ESP6500_TAC=9378,2994	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1284,108,0
chr3	4652326	rs6442896	A	C	521.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.61;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6442896;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|11/60|c.951+108A>C||||||,C|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|11/58|c.951+108A>C||||||,C|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|11/57|c.951+108A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4295;p3_1000G_AF=0.857628;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.8775;p3_1000G_AN=5008;p3_1000G_DP=21400;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8419;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4694010;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9693;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:550,48,0
chr3	4658118	rs139421901;345604	C	T	277.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.335;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.31;ReadPosRankSum=0.305;SOR=1.154;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139421901;dbSNPBuildID=134;ANN=T|splice_region_variant&intron_variant|LOW|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|11/60|c.952-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|12/58|c.997-6C>T||||||,T|splice_region_variant&intron_variant|LOW|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|11/57|c.952-6C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20578;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4699802;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_AF_EXAC=0.00029;CLINVAR_AF_TGP=0.0022;CLINVAR_ALLELEID=290678;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN227858,Orphanet:ORPHA99;CLINVAR_CLNDN=not_specified|Spinocerebellar_Ataxia,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.4658118C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:784705;CLINVAR_GENEINFO=ITPR1:3708;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=139421901	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,13:44:99:0|1:4658118_C_T:306,0,829
chr3	4661973	rs6801737	T	A	310.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.14;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=13.397;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.073;SOR=4.003;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6801737;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|13/60|c.1207-109T>A||||||,A|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|14/58|c.1252-109T>A||||||,A|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|13/57|c.1207-109T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=827;p3_1000G_AF=0.165136;p3_1000G_AFR_AF=0.0242;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=20675;p3_1000G_EAS_AF=0.1806;p3_1000G_EUR_AF=0.1382;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4703657;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3466;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,10:23:99:339,0,329
chr3	4670729	rs2306875;129298	G	A	118.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.828;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=0.705;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306875;dbSNPBuildID=100;ANN=A|splice_region_variant&synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|19/61|c.1962G>A|p.Lys654Lys|2312/10197|1962/8232|654/2743||,A|splice_region_variant&synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|20/59|c.2007G>A|p.Lys669Lys|2357/10098|2007/8133|669/2710||,A|splice_region_variant&synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|19/58|c.1962G>A|p.Lys654Lys|2312/10053|1962/8088|654/2695||;p3_1000G_AA=G|||;p3_1000G_AC=3075;p3_1000G_AF=0.614018;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=20986;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4712413;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6431;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2578,1104;ESP6500_AA_GTC=923,732,186;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=5505,2685;ESP6500_EA_GTC=1865,1775,455;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002222.5:coding-synonymous-near-splice,NM_001168272.1:coding-synonymous-near-splice,NM_001099952.2:coding-synonymous-near-splice;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4670729;ESP6500_GTC=2788,2507,641;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.1962G>A,NM_001168272.1:c.1962G>A,NM_001099952.2:c.2007G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002222.5:p.(K654),NM_001168272.1:p.(K654),NM_001099952.2:p.(K669);ESP6500_MAF=32.7839,29.9837,31.9154;ESP6500_TAC=8083,3789;CLINVAR_ALLELEID=134744;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN227858,Orphanet:ORPHA99;CLINVAR_CLNDN=not_specified|Spinocerebellar_Ataxia,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.4670729G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31342;CLINVAR_GENEINFO=ITPR1:3708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2306875	GT:AD:DP:GQ:PL	0/1:14,6:20:99:147,0,461
chr3	4675127	rs2306877;129299	A	C	714.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.461;SOR=0.556;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306877;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|22/61|c.2613A>C|p.Leu871Leu|2963/10197|2613/8232|871/2743||,C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|23/59|c.2658A>C|p.Leu886Leu|3008/10098|2658/8133|886/2710||,C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|22/58|c.2613A>C|p.Leu871Leu|2963/10053|2613/8088|871/2695||;p3_1000G_AA=A|||;p3_1000G_AC=1667;p3_1000G_AF=0.332867;p3_1000G_AFR_AF=0.3911;p3_1000G_AMR_AF=0.3184;p3_1000G_AN=5008;p3_1000G_DP=21702;p3_1000G_EAS_AF=0.2897;p3_1000G_EUR_AF=0.1958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4716811;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1350,2396;ESP6500_AA_GTC=263,824,786;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=-10.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=123;ESP6500_EA_AC=1438,6746;ESP6500_EA_GTC=124,1190,2778;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002222.5:coding-synonymous,NM_001168272.1:coding-synonymous,NM_001099952.2:coding-synonymous;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4675127;ESP6500_GTC=387,2014,3564;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.2613A>C,NM_001168272.1:c.2613A>C,NM_001099952.2:c.2658A>C;ESP6500_HGVS_PROTEIN_VAR=NM_002222.5:p.(L871),NM_001168272.1:p.(L871),NM_001099952.2:p.(L886);ESP6500_MAF=17.5709,36.0384,23.3697;ESP6500_TAC=2788,9142;CLINVAR_AF_ESP=0.2337;CLINVAR_AF_EXAC=0.26921;CLINVAR_AF_TGP=0.3329;CLINVAR_ALLELEID=134745;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN227858,Orphanet:ORPHA99;CLINVAR_CLNDN=not_specified|Spinocerebellar_Ataxia,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.4675127A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31363;CLINVAR_GENEINFO=ITPR1:3708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2306877	GT:AD:DP:GQ:PL	0/1:26,26:52:99:743,0,679
chr3	4681272	rs4684438	A	G	286.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.42;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.143;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4684438;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|24/60|c.3062-92A>G||||||,G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|25/58|c.3080-92A>G||||||,G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|24/57|c.3035-92A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1361;p3_1000G_AF=0.271765;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.2262;p3_1000G_AN=5008;p3_1000G_DP=20900;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0.1571;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4722956;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,9:22:99:315,0,394
chr3	4697153	rs3749383;345737	A	G	792.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.27;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.074;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.265;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749383;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|33/61|c.4243A>G|p.Ile1415Val|4593/10197|4243/8232|1415/2743||,G|missense_variant|MODERATE|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|34/59|c.4261A>G|p.Ile1421Val|4611/10098|4261/8133|1421/2710||,G|missense_variant|MODERATE|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|33/58|c.4216A>G|p.Ile1406Val|4566/10053|4216/8088|1406/2695||;p3_1000G_AA=A|||;p3_1000G_AC=28;p3_1000G_AF=0.00559105;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18544;p3_1000G_EAS_AF=0.0278;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4738837;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2,3762;ESP6500_AA_GTC=0,2,1880;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=64;ESP6500_EA_AC=0,8236;ESP6500_EA_GTC=0,0,4118;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002222.5:missense,NM_001168272.1:missense,NM_001099952.2:missense;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4697153;ESP6500_GS=29,29,29;ESP6500_GTC=0,2,5998;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.4216A>G,NM_001168272.1:c.4243A>G,NM_001099952.2:c.4261A>G;ESP6500_HGVS_PROTEIN_VAR=NM_002222.5:p.(I1406V),NM_001168272.1:p.(I1415V),NM_001099952.2:p.(I1421V);ESP6500_MAF=0.0,0.0531,0.0167;ESP6500_PH=benign:0.059,benign:0.059,benign:0.059;ESP6500_TAC=2,11998;CLINVAR_AF_ESP=0.0002;CLINVAR_AF_EXAC=0.00395;CLINVAR_AF_TGP=0.0056;CLINVAR_ALLELEID=295278;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN227858,Orphanet:ORPHA99;CLINVAR_CLNDN=not_specified|Spinocerebellar_Ataxia,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.4697153A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:636919;CLINVAR_GENEINFO=ITPR1:3708;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3749383	GT:AD:DP:GQ:PL	0/1:22,33:55:99:821,0,536
chr3	4697315	rs1335804652	GGTGTGTGTGT	G	101.74	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.21;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.44;ReadPosRankSum=-0.21;SOR=2.303;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|33/60|c.4362+72_4362+81delGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|34/58|c.4380+72_4380+81delGTGTGTGTGT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|33/57|c.4335+72_4335+81delGTGTGTGTGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,3:4:99:113,0,159
chr3	4775373	rs6442905	T	C	1042.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.79;SOR=1.483;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6442905;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|46/61|c.6066T>C|p.Asn2022Asn|6416/10197|6066/8232|2022/2743||,C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|44/59|c.5967T>C|p.Asn1989Asn|6317/10098|5967/8133|1989/2710||,C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|43/58|c.5922T>C|p.Asn1974Asn|6272/10053|5922/8088|1974/2695||;p3_1000G_AA=C|||;p3_1000G_AC=4821;p3_1000G_AF=0.96266;p3_1000G_AFR_AF=0.9493;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=20753;p3_1000G_EAS_AF=0.9782;p3_1000G_EUR_AF=0.9722;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4817057;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3523,169;ESP6500_AA_GTC=1682,159,5;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=-0.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=129;ESP6500_EA_AC=7935,243;ESP6500_EA_GTC=3853,229,7;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002222.5:coding-synonymous,NM_001168272.1:coding-synonymous,NM_001099952.2:coding-synonymous;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4775373;ESP6500_GTC=5535,388,12;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.5922T>C,NM_001168272.1:c.6066T>C,NM_001099952.2:c.5967T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002222.5:p.(N1974),NM_001168272.1:p.(N2022),NM_001099952.2:p.(N1989);ESP6500_MAF=2.9714,4.5775,3.4709;ESP6500_TAC=11458,412	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1071,105,0
chr3	4814496	rs711631;129303	T	C	1917.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.93;SOR=0.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs711631;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|57/61|c.7590T>C|p.Thr2530Thr|7940/10197|7590/8232|2530/2743||,C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|55/59|c.7491T>C|p.Thr2497Thr|7841/10098|7491/8133|2497/2710||,C|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|54/58|c.7446T>C|p.Thr2482Thr|7796/10053|7446/8088|2482/2695||;p3_1000G_AA=T|||;p3_1000G_AC=3961;p3_1000G_AF=0.790935;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=16528;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.836;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4856180;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3013,1133;ESP6500_AA_GTC=1103,807,163;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=-9.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=89;ESP6500_EA_AC=7080,1350;ESP6500_EA_GTC=2974,1132,109;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002222.5:coding-synonymous,NM_001168272.1:coding-synonymous,NM_001099952.2:coding-synonymous;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4814496;ESP6500_GTC=4077,1939,272;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.7446T>C,NM_001168272.1:c.7590T>C,NM_001099952.2:c.7491T>C;ESP6500_HGVS_PROTEIN_VAR=NM_002222.5:p.(T2482),NM_001168272.1:p.(T2530),NM_001099952.2:p.(T2497);ESP6500_MAF=16.0142,27.3275,19.744;ESP6500_TAC=10093,2483;CLINVAR_ALLELEID=134749;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN227858,Orphanet:ORPHA99;CLINVAR_CLNDN=not_specified|Spinocerebellar_Ataxia,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.4814496T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31368;CLINVAR_GENEINFO=ITPR1:3708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=711631	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1946,186,0
chr3	4814550	rs901854;129304	G	A	1157.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.08;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs901854;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|57/61|c.7644G>A|p.Lys2548Lys|7994/10197|7644/8232|2548/2743||,A|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|55/59|c.7545G>A|p.Lys2515Lys|7895/10098|7545/8133|2515/2710||,A|synonymous_variant|LOW|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|54/58|c.7500G>A|p.Lys2500Lys|7850/10053|7500/8088|2500/2695||;p3_1000G_AA=G|||;p3_1000G_AC=2942;p3_1000G_AF=0.58746;p3_1000G_AFR_AF=0.5295;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=14907;p3_1000G_EAS_AF=0.7202;p3_1000G_EUR_AF=0.5885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4856234;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5654;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2310,1668;ESP6500_AA_GTC=686,938,365;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=56;ESP6500_EA_AC=4999,3297;ESP6500_EA_GTC=1517,1965,666;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002222.5:coding-synonymous,NM_001168272.1:coding-synonymous,NM_001099952.2:coding-synonymous;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4814550;ESP6500_GTC=2203,2903,1031;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.7500G>A,NM_001168272.1:c.7644G>A,NM_001099952.2:c.7545G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002222.5:p.(K2500),NM_001168272.1:p.(K2548),NM_001099952.2:p.(K2515);ESP6500_MAF=39.742,41.9306,40.4514;ESP6500_TAC=7309,4965;CLINVAR_ALLELEID=134750;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN227858,Orphanet:ORPHA99;CLINVAR_CLNDN=not_specified|Spinocerebellar_Ataxia,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.4814550G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31378;CLINVAR_GENEINFO=ITPR1:3708;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=901854	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1186,105,0
chr3	4818041	rs9844268	G	A	1109.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9844268;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001168272.1|protein_coding|58/60|c.7823-41G>A||||||,A|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_001099952.2|protein_coding|56/58|c.7724-41G>A||||||,A|intron_variant|MODIFIER|ITPR1|ITPR1|transcript|NM_002222.5|protein_coding|55/57|c.7679-41G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4757;p3_1000G_AF=0.94988;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=20006;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=4859725;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3068,588;ESP6500_AA_GTC=1291,486,51;ESP6500_CDS_SIZES=NM_002222.5:8088,NM_001168272.1:8232,NM_001099952.2:8133;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=21;ESP6500_EA_AC=8173,5;ESP6500_EA_GTC=4084,5,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002222.5:intron,NM_001168272.1:intron,NM_001099952.2:intron;ESP6500_GL=ITPR1;ESP6500_GRCh38_POSITION=3:4818041;ESP6500_GTC=5375,491,51;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002222.5:c.7679-41G>A,NM_001168272.1:c.7823-41G>A,NM_001099952.2:c.7724-41G>A;ESP6500_MAF=0.0611,16.0832,5.011;ESP6500_TAC=11241,593	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1138,102,0
chr3	4983829	rs139879256;rs56076357	G	GGTGTGT	245.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=27.51;SOR=3.912;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs56076357;dbSNPBuildID=134,129;ANN=GGTGTGT|3_prime_UTR_variant|MODIFIER|BHLHE40|BHLHE40|transcript|NM_003670.2|protein_coding|5/5|c.*158_*163dupGTGTGT|||||164|INFO_REALIGN_3_PRIME,GGTGTGT|upstream_gene_variant|MODIFIER|BHLHE40-AS1|BHLHE40-AS1|transcript|NR_037903.3|pseudogene||n.-3874_-3869dupACACAC|||||3869|,GGTGTGT|upstream_gene_variant|MODIFIER|BHLHE40-AS1|BHLHE40-AS1|transcript|NR_125915.1|pseudogene||n.-3874_-3869dupACACAC|||||3869|,GGTGTGT|upstream_gene_variant|MODIFIER|BHLHE40-AS1|BHLHE40-AS1|transcript|NR_125916.1|pseudogene||n.-3874_-3869dupACACAC|||||3869|	GT:AD:DP:GQ:PL	1/1:0,4:4:3:219,3,0
chr3	5199538	rs377120	C	T	460.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.11;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs377120;dbSNPBuildID=80;ANN=T|intron_variant|MODIFIER|EDEM1|EDEM1|transcript|NM_014674.2|protein_coding|2/11|c.583-54C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4526;p3_1000G_AF=0.903754;p3_1000G_AFR_AF=0.8154;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=20611;p3_1000G_EAS_AF=0.9435;p3_1000G_EUR_AF=0.9682;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5241223;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8599;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:489,39,0
chr3	5199624	rs410509	C	A	1028.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs410509;dbSNPBuildID=80;ANN=A|synonymous_variant|LOW|EDEM1|EDEM1|transcript|NM_014674.2|protein_coding|3/12|c.615C>A|p.Ala205Ala|747/6153|615/1974|205/657||;p3_1000G_AA=A|||;p3_1000G_AC=4594;p3_1000G_AF=0.917332;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.987;p3_1000G_AN=5008;p3_1000G_DP=19073;p3_1000G_EAS_AF=0.9435;p3_1000G_EUR_AF=0.9682;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=5241309;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8599;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3889,517;ESP6500_AA_AGE=236.5+/-248.6;ESP6500_AA_GTC=1724,441,38;ESP6500_CDS_SIZES=NM_014674.2:1974;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=84;ESP6500_EA_AC=8390,210;ESP6500_EA_AGE=89.7+/-151.9;ESP6500_EA_GTC=4092,206,2;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014674.2:coding-synonymous;ESP6500_GL=EDEM1;ESP6500_GRCh38_POSITION=3:5199624;ESP6500_GTC=5816,647,40;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_014674.2:c.615C>A;ESP6500_HGVS_PROTEIN_VAR=NM_014674.2:p.(A205);ESP6500_MAF=2.4419,11.734,5.5897;ESP6500_TAC=12279,727	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1057,102,0
chr3	6786661	rs11924839	A	C	1888.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=0.877;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11924839;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|GRM7-AS3|GRM7-AS3|transcript|NR_110123.1|pseudogene|2/3|n.150+4392T>G||||||,C|intron_variant|MODIFIER|GRM7-AS3|GRM7-AS3|transcript|NR_110125.1|pseudogene|2/3|n.150+4392T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=650;p3_1000G_AF=0.129792;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=19574;p3_1000G_EAS_AF=0.1974;p3_1000G_EUR_AF=0.1064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6828348;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0849;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1917,171,0
chr3	6786677	rs1533434	A	G	1888.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.01;SOR=0.726;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1533434;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|GRM7-AS3|GRM7-AS3|transcript|NR_110123.1|pseudogene|2/3|n.150+4376T>C||||||,G|intron_variant|MODIFIER|GRM7-AS3|GRM7-AS3|transcript|NR_110125.1|pseudogene|2/3|n.150+4376T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2760;p3_1000G_AF=0.551118;p3_1000G_AFR_AF=0.4849;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=19409;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.5676;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6828364;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1917,177,0
chr3	6861610	rs3749380	C	T	1172.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.202;ClippingRankSum=0;DP=121;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.679;SOR=0.679;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749380;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|GRM7|GRM7|transcript|NM_181874.2|protein_coding|1/11|c.222C>T|p.Asn74Asn|496/4239|222/2769|74/922||,T|synonymous_variant|LOW|GRM7|GRM7|transcript|NM_000844.3|protein_coding|1/10|c.222C>T|p.Asn74Asn|496/4147|222/2748|74/915||;p3_1000G_AA=C|||;p3_1000G_AC=2088;p3_1000G_AF=0.416933;p3_1000G_AFR_AF=0.3593;p3_1000G_AMR_AF=0.4496;p3_1000G_AN=5008;p3_1000G_DP=14695;p3_1000G_EAS_AF=0.3214;p3_1000G_EUR_AF=0.4066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6903297;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1431,2975;ESP6500_AA_AGE=431.2+/-342.8;ESP6500_AA_GTC=223,985,995;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...19165232;ESP6500_CDS_SIZES=NM_181874.2:2769,NM_000844.3:2748;ESP6500_CG=3.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=29;ESP6500_EA_AC=3236,5364;ESP6500_EA_AGE=451.8+/-362.8;ESP6500_EA_GTC=641,1954,1705;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_181874.2:coding-synonymous,NM_000844.3:coding-synonymous;ESP6500_GL=GRM7;ESP6500_GRCh38_POSITION=3:6861610;ESP6500_GTC=864,2939,2700;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...19165232;ESP6500_HGVS_CDNA_VAR=NM_181874.2:c.222C>T,NM_000844.3:c.222C>T;ESP6500_HGVS_PROTEIN_VAR=NM_181874.2:p.(N74),NM_000844.3:p.(N74);ESP6500_MAF=37.6279,32.4784,35.8834;ESP6500_TAC=4667,8339	GT:AD:DP:GQ:PL	0/1:70,51:121:99:1201,0,1735
chr3	6861914	rs342034	A	G	1311.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.08;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs342034;dbSNPBuildID=79;ANN=G|splice_region_variant&intron_variant|LOW|GRM7|GRM7|transcript|NM_181874.2|protein_coding|1/10|c.519+7A>G||||||,G|splice_region_variant&intron_variant|LOW|GRM7|GRM7|transcript|NM_000844.3|protein_coding|1/9|c.519+7A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4932;p3_1000G_AF=0.984824;p3_1000G_AFR_AF=0.9992;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=16970;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=6903601;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4377,29;ESP6500_AA_AGE=30.8+/-60.4;ESP6500_AA_GTC=2174,29,0;ESP6500_CDS_SIZES=NM_181874.2:2769,NM_000844.3:2748;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=53;ESP6500_EA_AC=8168,432;ESP6500_EA_AGE=129.0+/-187.1;ESP6500_EA_GTC=3879,410,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181874.2:intron,NM_000844.3:intron;ESP6500_GL=GRM7;ESP6500_GRCh38_POSITION=3:6861914;ESP6500_GTC=6053,439,11;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_181874.2:c.519+7A>G,NM_000844.3:c.519+7A>G;ESP6500_MAF=5.0233,0.6582,3.5445;ESP6500_TAC=12545,461	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1340,111,0
chr3	7146376	rs3749450	T	C	426.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.414;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.844;SOR=0.733;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749450;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_181874.2|protein_coding|1/10|c.520-76T>C||||||,C|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_000844.3|protein_coding|1/9|c.520-76T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1084;p3_1000G_AF=0.216454;p3_1000G_AFR_AF=0.1536;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=20723;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.3221;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7188063;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,16:28:99:455,0,331
chr3	7306442	rs17047071	C	T	30.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.42;ReadPosRankSum=0.447;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17047071;dbSNPBuildID=123;ANN=T|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_181874.2|protein_coding|3/10|c.879-56C>T||||||,T|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_000844.3|protein_coding|3/9|c.879-56C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=580;p3_1000G_AF=0.115815;p3_1000G_AFR_AF=0.1051;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=17554;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.1233;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7348129;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.136;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:59:59,0,188
chr3	7414988	rs712774	C	T	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.421;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=2.688;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-1.655;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs712774;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_181874.2|protein_coding|4/10|c.1034-35C>T||||||,T|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_000844.3|protein_coding|4/9|c.1034-35C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3513;p3_1000G_AF=0.701478;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=18704;p3_1000G_EAS_AF=0.5456;p3_1000G_EUR_AF=0.7167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=7456675;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3702,704;ESP6500_AA_AGE=291.3+/-281.4;ESP6500_AA_GTC=1565,572,66;ESP6500_CDS_SIZES=NM_181874.2:2769,NM_000844.3:2748;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=55;ESP6500_EA_AC=6335,2263;ESP6500_EA_AGE=378.2+/-338.8;ESP6500_EA_GTC=2341,1653,305;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181874.2:intron,NM_000844.3:intron;ESP6500_GL=GRM7;ESP6500_GRCh38_POSITION=3:7414988;ESP6500_GTC=3906,2225,371;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_181874.2:c.1034-35C>T,NM_000844.3:c.1034-35C>T;ESP6500_MAF=26.3201,15.9782,22.8161;ESP6500_TAC=10037,2967	GT:AD:DP:GQ:PL	0/1:6,8:14:99:240,0,165
chr3	7452558	rs767522388	T	TTG	191.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.645;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.85;ReadPosRankSum=-0.024;SOR=0.941;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=TTG|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_181874.2|protein_coding|5/10|c.1175-21_1175-20dupGT||||||INFO_REALIGN_3_PRIME,TTG|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_000844.3|protein_coding|5/9|c.1175-21_1175-20dupGT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:18,10:28:99:229,0,497
chr3	7691039	rs5846531;rs71043690	AT	A	880.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.52;SOR=1.085;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5846531,rs71043690;dbSNPBuildID=126,130;ANN=A|sequence_feature|MODERATE|GRM7|GRM7|modified-residue:Phosphoserine|NM_000844.3|protein_coding|9/9|c.2698+10745delT||||||,A|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_181874.2|protein_coding|10/10|c.*21+4602delT||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|GRM7|GRM7|transcript|NM_000844.3|protein_coding|9/9|c.2698+10755delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,32:32:99:918,101,0
chr3	8502027	rs397766983;rs5846598;rs869097257;~rs5846599	G	GT	1113.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.75;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5846598;dbSNPBuildID=135,147,138;ANN=GT|upstream_gene_variant|MODIFIER|LMCD1-AS1|LMCD1-AS1|transcript|NR_033378.1|pseudogene||n.-370dupA|||||370|,GT|intron_variant|MODIFIER|LMCD1|LMCD1|transcript|NM_014583.3|protein_coding|1/5|c.42+49dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|LMCD1|LMCD1|transcript|NM_001278235.1|protein_coding|1/4|c.42+49dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|LMCD1|LMCD1|transcript|NM_001278233.1|protein_coding|1/4|c.-89+49dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|LMCD1|LMCD1|transcript|NM_001278234.1|protein_coding|1/4|c.-39+49dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTT|TT|TTT|deletion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=11672;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8543713;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL;ESP6500_AA_AC=4264,2;ESP6500_AA_GTC=2131,2,0;ESP6500_CDS_SIZES=NM_014583.2:1098;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_114;ESP6500_DP=102;ESP6500_EA_AC=8252,2;ESP6500_EA_GTC=4125,2,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014583.2:intron;ESP6500_GL=LMCD1;ESP6500_GRCh38_POSITION=3:8502027;ESP6500_GTC=6256,4,0;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014583.2:c.42+47_42+48insT;ESP6500_MAF=0.0242,0.0469,0.0319;ESP6500_TAC=12516,4	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1151,99,0
chr3	8514985	rs60137047	T	G	585.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.482;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-1.912;SOR=0.521;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60137047;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|LMCD1|LMCD1|transcript|NM_014583.3|protein_coding|1/5|c.42+13005T>G||||||,G|intron_variant|MODIFIER|LMCD1|LMCD1|transcript|NM_001278235.1|protein_coding|1/4|c.42+13005T>G||||||,G|intron_variant|MODIFIER|LMCD1|LMCD1|transcript|NM_001278233.1|protein_coding|1/4|c.-89+13005T>G||||||,G|intron_variant|MODIFIER|LMCD1|LMCD1|transcript|NM_001278234.1|protein_coding|1/4|c.-39+13005T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=748;p3_1000G_AF=0.149361;p3_1000G_AFR_AF=0.143;p3_1000G_AMR_AF=0.0951;p3_1000G_AN=5008;p3_1000G_DP=18660;p3_1000G_EAS_AF=0.1161;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8556671;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2628;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,22:37:99:614,0,447
chr3	8623455	rs567222620	G	A	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.128;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.728;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|11/11|c.981+94C>T||||||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|12/12|n.1269+94C>T||||||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|11/11|c.762+94C>T||||||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|11/11|c.915+94C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16451;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8665141;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:77:77,0,225
chr3	8626210	rs355058	T	C	1068.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs355058;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|9/11|c.767+19A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|10/12|n.1055+19A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|9/11|c.548+19A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|9/11|c.701+19A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=4061;p3_1000G_AF=0.810903;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=17697;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8667896;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8548;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3041,1365;ESP6500_AA_AGE=691.9+/-405.5;ESP6500_AA_GTC=1062,917,224;ESP6500_CDS_SIZES=NM_015931.2:1062,NM_001256749.1:909,NM_001256748.1:1128;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=186;ESP6500_EA_AC=6707,1893;ESP6500_EA_AGE=728.1+/-406.7;ESP6500_EA_GTC=2631,1445,224;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015931.2:intron,NM_001256749.1:intron,NM_001256748.1:intron;ESP6500_GL=C3orf32;ESP6500_GRCh38_POSITION=3:8626210;ESP6500_GTC=3693,2362,448;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015931.2:c.701+19A>G,NM_001256749.1:c.548+19A>G,NM_001256748.1:c.767+19A>G;ESP6500_MAF=22.0116,30.9805,25.05;ESP6500_TAC=9748,3258	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1097,102,0
chr3	8627675	rs1533001	C	A	808.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.134;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=3.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.789;SOR=0.341;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1533001;dbSNPBuildID=88;ANN=A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|8/11|c.674+23G>T||||||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|9/12|n.962+23G>T||||||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|8/11|c.455+23G>T||||||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|8/11|c.608+23G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2304;p3_1000G_AF=0.460064;p3_1000G_AFR_AF=0.413;p3_1000G_AMR_AF=0.3588;p3_1000G_AN=5008;p3_1000G_DP=17490;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.4145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8669361;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4509;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1789,2617;ESP6500_AA_AGE=523.6+/-371.1;ESP6500_AA_GTC=378,1033,792;ESP6500_CDS_SIZES=NM_015931.2:1062,NM_001256749.1:909,NM_001256748.1:1128;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=50;ESP6500_EA_AC=3426,5174;ESP6500_EA_AGE=502.8+/-375.8;ESP6500_EA_GTC=693,2040,1567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015931.2:intron,NM_001256749.1:intron,NM_001256748.1:intron;ESP6500_GL=C3orf32;ESP6500_GRCh38_POSITION=3:8627675;ESP6500_GTC=1071,3073,2359;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015931.2:c.608+23G>T,NM_001256749.1:c.455+23G>T,NM_001256748.1:c.674+23G>T;ESP6500_MAF=39.8372,40.6037,40.0969;ESP6500_TAC=5215,7791	GT:AD:DP:GQ:PL	0/1:30,31:61:99:837,0,847
chr3	8627681	rs398051543;rs5846608	TG	T	2413.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.23;SOR=1.057;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5846608;dbSNPBuildID=132,138;ANN=T|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|8/11|c.674+16delC||||||,T|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|9/12|n.962+16delC||||||,T|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|8/11|c.455+16delC||||||,T|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|8/11|c.608+16delC||||||;p3_1000G_AA=GGG|GGGG|GGG|insertion;p3_1000G_AC=4229;p3_1000G_AF=0.844449;p3_1000G_AFR_AF=0.792;p3_1000G_AMR_AF=0.83;p3_1000G_AN=5008;p3_1000G_DP=18189;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.7992;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8669367;p3_1000G_GRCH37_REF=TG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8119;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2451,187,0
chr3	8629633	rs142926392;rs570096071	C	CTGACTCACCAGTGGTTCACAGA	930.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.328;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.02;ReadPosRankSum=-0.186;SOR=0.787;INS;HET;VARTYPE=INS;dbSNP138_ID=rs142926392;dbSNPBuildID=134,142;ANN=CTGACTCACCAGTGGTTCACAGA|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|7/11|c.588+9_588+30dupTCTGTGAACCACTGGTGAGTCA||||||,CTGACTCACCAGTGGTTCACAGA|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|8/12|n.876+9_876+30dupTCTGTGAACCACTGGTGAGTCA||||||,CTGACTCACCAGTGGTTCACAGA|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|7/11|c.369+9_369+30dupTCTGTGAACCACTGGTGAGTCA||||||,CTGACTCACCAGTGGTTCACAGA|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|7/11|c.522+9_522+30dupTCTGTGAACCACTGGTGAGTCA||||||	GT:AD:DP:GQ:PL	0/1:11,20:31:99:968,0,2195
chr3	8633849	rs553083777	A	G	773.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.8;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.115;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-1.042;SOR=0.899;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|synonymous_variant|LOW|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|4/12|c.90T>C|p.Arg30Arg|363/1803|90/1062|30/353||,G|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|3/11|c.210-54T>C||||||,G|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|4/12|n.498-54T>C||||||,G|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|3/11|c.-10-54T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=10115;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8675535;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:25,21:46:99:0|1:8633849_A_G:802,0,1468
chr3	8633853	rs2276800	G	A	773.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.813;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=2.48;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=-0.523;SOR=1.134;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276800;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|4/12|c.86C>T|p.Pro29Leu|359/1803|86/1062|29/353||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|3/11|c.210-58C>T||||||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|4/12|n.498-58C>T||||||,A|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|3/11|c.-10-58C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1671;p3_1000G_AF=0.333666;p3_1000G_AFR_AF=0.6838;p3_1000G_AMR_AF=0.2651;p3_1000G_AN=5008;p3_1000G_DP=10609;p3_1000G_EAS_AF=0.1984;p3_1000G_EUR_AF=0.1829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8675539;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2615,1791;ESP6500_AA_AGE=503.9+/-365.7;ESP6500_AA_GTC=793,1029,381;ESP6500_CDS_SIZES=NM_015931.2:1062,NM_001256749.1:909,NM_001256748.1:1128;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=29;ESP6500_EA_AC=1528,7072;ESP6500_EA_AGE=728.5+/-406.7;ESP6500_EA_GTC=120,1288,2892;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015931.2:missense,NM_001256749.1:intron,NM_001256748.1:intron;ESP6500_GL=C3orf32;ESP6500_GRCh38_POSITION=3:8633853;ESP6500_GS=98,.,.;ESP6500_GTC=913,2317,3273;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015931.2:c.86C>T,NM_001256749.1:c.-68C>T,NM_001256748.1:c.210-58C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015931.2:p.(P29L),.,.;ESP6500_MAF=17.7674,40.6491,31.8545;ESP6500_PH=benign:0.0,.,.;ESP6500_TAC=4143,8863	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,21:48:99:0|1:8633849_A_G:802,0,1468
chr3	8634092	rs11131140	T	C	803.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.95;SOR=1.426;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11131140;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|3/11|c.210-297A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|4/12|n.498-297A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|3/11|c.-10-297A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|3/11|c.-3-151A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3898;p3_1000G_AF=0.778355;p3_1000G_AFR_AF=0.7421;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=21524;p3_1000G_EAS_AF=0.7857;p3_1000G_EUR_AF=0.8091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8675778;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8262;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:832,69,0
chr3	8634518	rs3774210	A	G	2249.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.03;SOR=0.822;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3774210;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|3/11|c.210-723T>C||||||,G|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|3/11|c.-10-723T>C||||||,G|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|3/11|c.-3-577T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|4/13|n.377T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4444;p3_1000G_AF=0.88738;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=19559;p3_1000G_EAS_AF=0.9008;p3_1000G_EUR_AF=0.8887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8676204;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2278,192,0
chr3	8635259	rs3816911	T	C	1368.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.83;SOR=1.055;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3816911;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256748.1|protein_coding|3/11|c.209+41A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NR_046358.1|pseudogene|3/12|n.249+41A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_001256749.1|protein_coding|3/11|c.-11+41A>G||||||,C|intron_variant|MODIFIER|SSUH2|SSUH2|transcript|NM_015931.2|protein_coding|3/11|c.-4+41A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3455;p3_1000G_AF=0.689896;p3_1000G_AFR_AF=0.4092;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19212;p3_1000G_EAS_AF=0.7063;p3_1000G_EUR_AF=0.8648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8676945;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8221;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1397,129,0
chr3	8659688	rs365559	T	C	589.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=65;ExcessHet=3.0103;FS=2.202;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.244;SOR=1.047;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80210627;dbSNPBuildID=80;ANN=C|intergenic_region|MODIFIER|SSUH2-CAV3|SSUH2-CAV3|intergenic_region|SSUH2-CAV3|||n.8659688T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=461;p3_1000G_AF=0.0920527;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=20452;p3_1000G_EAS_AF=0.0625;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8701374;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:40,25:65:99:618,0,954
chr3	8659744	rs371133	T	C	2610.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.71;SOR=0.815;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs371133;dbSNPBuildID=80;ANN=C|intergenic_region|MODIFIER|SSUH2-CAV3|SSUH2-CAV3|intergenic_region|SSUH2-CAV3|||n.8659744T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1400;p3_1000G_AF=0.279553;p3_1000G_AFR_AF=0.3132;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=22413;p3_1000G_EAS_AF=0.253;p3_1000G_EUR_AF=0.2654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8701430;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2986;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2639,255,0
chr3	8733771	rs2072583;31746	G	A	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.363;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0.884;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2072583;dbSNPBuildID=96;ANN=A|upstream_gene_variant|MODIFIER|CAV3|CAV3|transcript|NM_001234.4|protein_coding||c.-106G>A|||||29|,A|upstream_gene_variant|MODIFIER|CAV3|CAV3|transcript|NM_033337.2|protein_coding||c.-106G>A|||||29|,A|intergenic_region|MODIFIER|SSUH2-CAV3|SSUH2-CAV3|intergenic_region|SSUH2-CAV3|||n.8733771G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1122;p3_1000G_AF=0.224042;p3_1000G_AFR_AF=0.2156;p3_1000G_AMR_AF=0.2233;p3_1000G_AN=5008;p3_1000G_DP=16445;p3_1000G_EAS_AF=0.2282;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8775457;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.2240;CLINVAR_ALLELEID=40406;CLINVAR_CLNDISDB=MedGen:CN517202;CLINVAR_CLNDN=not_provided;CLINVAR_CLNHGVS=NC_000003.12:g.8733771G>A;CLINVAR_CLNREVSTAT=no_assertion_provided;CLINVAR_CLNSIG=not_provided;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Leiden_Muscular_Dystrophy_pages_(CAV3):CAV3_00062;CLINVAR_GENEINFO=CAV3:859|SSUH2:51066;CLINVAR_MC=SO:0001636|2KB_upstream_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2072583	GT:AD:DP:GQ:PL	0/1:10,11:21:99:342,0,354
chr3	8733975	rs1008642;31709	C	T	954.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.855;ClippingRankSum=0;DP=78;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.993;SOR=0.796;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1008642;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|CAV3|CAV3|transcript|NM_001234.4|protein_coding|1/3|c.99C>T|p.Asn33Asn|176/1335|99/456|33/151||,T|synonymous_variant|LOW|CAV3|CAV3|transcript|NM_033337.2|protein_coding|1/2|c.99C>T|p.Asn33Asn|176/1431|99/456|33/151||;p3_1000G_AA=C|||;p3_1000G_AC=1858;p3_1000G_AF=0.371006;p3_1000G_AFR_AF=0.621;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=15192;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.2684;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8775661;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2409,1997;ESP6500_AA_AGE=614.9+/-392.5;ESP6500_AA_GTC=652,1105,446;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...859&amp%3Brs...1008642|http://www.ncbi.nlm.nih.gov/omim/123320,601253,607801|http://omim.org/entry/607801|http://omim.org/entry/601253#0014;ESP6500_CDS_SIZES=NM_033337.2:456,NM_001234.4:456;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=106;ESP6500_EA_AC=2054,6546;ESP6500_EA_AGE=356.3+/-330.2;ESP6500_EA_GTC=251,1552,2497;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033337.2:coding-synonymous,NM_001234.4:coding-synonymous;ESP6500_GL=CAV3;ESP6500_GRCh38_POSITION=3:8733975;ESP6500_GTC=903,2657,2943;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033337.2:c.99C>T,NM_001234.4:c.99C>T;ESP6500_HGVS_PROTEIN_VAR=NM_033337.2:p.(N33),NM_001234.4:p.(N33);ESP6500_MAF=23.8837,45.3246,34.3149;ESP6500_TAC=4463,8543;CLINVAR_AF_ESP=0.3432;CLINVAR_AF_EXAC=0.30104;CLINVAR_AF_TGP=0.3710;CLINVAR_ALLELEID=40369;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202;CLINVAR_CLNDN=Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided;CLINVAR_CLNHGVS=NC_000003.12:g.8733975C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Athena_Diagnostics_Inc:4103|Illumina_Clinical_Services_Laboratory,Illumina:31388|Leiden_Muscular_Dystrophy_pages_(CAV3):CAV3_00016;CLINVAR_GENEINFO=CAV3:859|SSUH2:51066;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1008642	GT:AD:DP:GQ:PL	0/1:35,43:78:99:983,0,909
chr3	8742360	rs36055094	C	CA	15.4	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=3.85;ReadPosRankSum=0.319;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs36055094,rs34044666,rs58914034;dbSNPBuildID=126;ANN=CA|intron_variant|MODIFIER|CAV3|CAV3|transcript|NM_001234.4|protein_coding|1/2|c.115-3152dupA||||||INFO_REALIGN_3_PRIME,CA|intron_variant|MODIFIER|CAV3|CAV3|transcript|NM_033337.2|protein_coding|1/1|c.115-3152dupA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:1,3:4:1:50,1,0
chr3	8767536	rs4686302	C	T	1592.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.811;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=3.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.387;SOR=0.724;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4686302;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|OXTR|OXTR|transcript|NM_000916.3|protein_coding|3/4|c.652G>A|p.Ala218Thr|1274/4360|652/1170|218/389||;p3_1000G_AA=C|||;p3_1000G_AC=714;p3_1000G_AF=0.142572;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.2695;p3_1000G_AN=5008;p3_1000G_DP=15474;p3_1000G_EAS_AF=0.1696;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8809222;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1411;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=317,4089;ESP6500_AA_AGE=165.8+/-197.2;ESP6500_AA_GTC=15,287,1901;ESP6500_CDS_SIZES=NM_000916.3:1170;ESP6500_CG=3.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=35;ESP6500_EA_AC=1033,7565;ESP6500_EA_AGE=217.6+/-256.2;ESP6500_EA_GTC=62,909,3328;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_000916.3:missense;ESP6500_GL=OXTR;ESP6500_GRCh38_POSITION=3:8767536;ESP6500_GS=58;ESP6500_GTC=77,1196,5229;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_000916.3:c.652G>A;ESP6500_HGVS_PROTEIN_VAR=NM_000916.3:p.(A218T);ESP6500_MAF=12.0144,7.1947,10.3814;ESP6500_PH=benign:0.002;ESP6500_TAC=1350,11654	GT:AD:DP:GQ:PL	0/1:48,67:115:99:1621,0,1329
chr3	8768017	rs2228485	G	A	368.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.554;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228485;dbSNPBuildID=98;ANN=A|synonymous_variant|LOW|OXTR|OXTR|transcript|NM_000916.3|protein_coding|3/4|c.171C>T|p.Asn57Asn|793/4360|171/1170|57/389||;p3_1000G_AA=A|||;p3_1000G_AC=3595;p3_1000G_AF=0.717851;p3_1000G_AFR_AF=0.6377;p3_1000G_AMR_AF=0.5937;p3_1000G_AN=5008;p3_1000G_DP=13066;p3_1000G_EAS_AF=0.7272;p3_1000G_EUR_AF=0.7604;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8809703;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8609;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2850,1540;ESP6500_AA_GTC=932,986,277;ESP6500_CDS_SIZES=NM_000916.3:1170;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=24;ESP6500_EA_AC=6500,2078;ESP6500_EA_GTC=2452,1596,241;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000916.3:coding-synonymous;ESP6500_GL=OXTR;ESP6500_GRCh38_POSITION=3:8768017;ESP6500_GTC=3384,2582,518;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_000916.3:c.171C>T;ESP6500_HGVS_PROTEIN_VAR=NM_000916.3:p.(N57);ESP6500_MAF=24.2248,35.0797,27.8994;ESP6500_TAC=9350,3618	GT:AD:DP:GQ:PL	0/1:12,17:29:99:397,0,301
chr3	8890300	rs656626	A	C	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.01;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.09;SOR=0.56;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs656626;dbSNPBuildID=83;ANN=C|intron_variant|MODIFIER|RAD18|RAD18|transcript|NM_020165.3|protein_coding|12/12|c.1385+89T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4168;p3_1000G_AF=0.832268;p3_1000G_AFR_AF=0.9531;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=19861;p3_1000G_EAS_AF=0.5923;p3_1000G_EUR_AF=0.8449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8931984;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,16:38:99:452,0,627
chr3	8890505	rs607531	C	T	239.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.202;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=8.686;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.855;SOR=0.053;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs607531;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|RAD18|RAD18|transcript|NM_020165.3|protein_coding|11/12|c.1323-54G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2617;p3_1000G_AF=0.522564;p3_1000G_AFR_AF=0.2141;p3_1000G_AMR_AF=0.6729;p3_1000G_AN=5008;p3_1000G_DP=18424;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8932189;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=418,966;ESP6500_AA_GTC=65,288,339;ESP6500_CDS_SIZES=NM_020165.3:1488;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=53;ESP6500_EA_AC=2314,866;ESP6500_EA_GTC=851,612,127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020165.3:intron;ESP6500_GL=RAD18;ESP6500_GRCh38_POSITION=3:8890505;ESP6500_GTC=916,900,466;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020165.3:c.1323-54G>A;ESP6500_MAF=27.2327,30.2023,40.1402;ESP6500_TAC=2732,1832	GT:AD:DP:GQ:PL	0/1:12,10:22:99:268,0,386
chr3	8902304	rs464302	C	A	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.842;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs464302;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|RAD18|RAD18|transcript|NM_020165.3|protein_coding|10/12|c.1168+76G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2439;p3_1000G_AF=0.487021;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=16745;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.7346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8943988;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:67:97,0,67
chr3	8913556	rs430781	T	C	95.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.048;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=0.905;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs430781;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|RAD18|RAD18|transcript|NM_020165.3|protein_coding|8/12|c.966+88A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4183;p3_1000G_AF=0.835264;p3_1000G_AFR_AF=0.9576;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=18220;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.8449;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8955240;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,6:19:99:124,0,352
chr3	8913705	rs373572	C	T	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.066;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.56;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs373572;dbSNPBuildID=80;ANN=T|missense_variant|MODERATE|RAD18|RAD18|transcript|NM_020165.3|protein_coding|8/13|c.905G>A|p.Arg302Gln|995/5739|905/1488|302/495||;p3_1000G_AA=T|||;p3_1000G_AC=3243;p3_1000G_AF=0.647564;p3_1000G_AFR_AF=0.6543;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=18337;p3_1000G_EAS_AF=0.3591;p3_1000G_EUR_AF=0.7624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8955389;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2931,1473;ESP6500_AA_AGE=465.7+/-354.3;ESP6500_AA_GTC=976,979,247;ESP6500_CDS_SIZES=NM_020165.3:1488;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=71;ESP6500_EA_AC=6219,2369;ESP6500_EA_AGE=383.4+/-340.7;ESP6500_EA_GTC=2265,1689,340;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020165.3:missense;ESP6500_GL=RAD18;ESP6500_GRCh38_POSITION=3:8913705;ESP6500_GS=43;ESP6500_GTC=3241,2668,587;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020165.3:c.905G>A;ESP6500_HGVS_PROTEIN_VAR=NM_020165.3:p.(R302Q);ESP6500_MAF=27.585,33.4469,29.572;ESP6500_PH=benign:0.001;ESP6500_TAC=9150,3842	GT:AD:DP:GQ:PL	0/1:26,19:45:99:406,0,626
chr3	8947125	rs689296	C	T	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.201;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=11.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0;SOR=0.02;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs689296;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|RAD18|RAD18|transcript|NM_020165.3|protein_coding|4/12|c.266+95G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2469;p3_1000G_AF=0.493011;p3_1000G_AFR_AF=0.1452;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=18819;p3_1000G_EAS_AF=0.3581;p3_1000G_EUR_AF=0.7346;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=8988809;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,10:23:99:257,0,471
chr3	8963394	rs615967	C	T	697.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.44;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.638;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-1.396;SOR=1.153;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs615967;dbSNPBuildID=83;ANN=T|5_prime_UTR_variant|MODIFIER|RAD18|RAD18|transcript|NM_020165.3|protein_coding|1/13|c.-9G>A|||||9|;p3_1000G_AA=C|||;p3_1000G_AC=2993;p3_1000G_AF=0.597644;p3_1000G_AFR_AF=0.3162;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=15306;p3_1000G_EAS_AF=0.3958;p3_1000G_EUR_AF=0.8082;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9005078;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8773;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1850,2550;ESP6500_AA_GTC=418,1014,768;ESP6500_CDS_SIZES=NM_020165.3:1488;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=16;ESP6500_EA_AC=6753,1839;ESP6500_EA_GTC=2666,1421,209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020165.3:utr-5;ESP6500_GL=RAD18;ESP6500_GRCh38_POSITION=3:8963394;ESP6500_GTC=3084,2435,977;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020165.3:c.-9G>A;ESP6500_MAF=21.4036,42.0455,33.7823;ESP6500_TAC=8603,4389	GT:AD:DP:GQ:PL	0/1:17,27:44:99:726,0,340
chr3	8990475	rs2648330	T	G	393.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.508;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.736;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2648330;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|21/21|c.2886+37A>C||||||,G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|21/21|c.2814+37A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1591;p3_1000G_AF=0.317692;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.1239;p3_1000G_AN=5008;p3_1000G_DP=16610;p3_1000G_EAS_AF=0.3631;p3_1000G_EUR_AF=0.1024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9032159;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1431;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2213,1991;ESP6500_AA_GTC=584,1045,473;ESP6500_CDS_SIZES=NM_014850.3:3300,NM_001033117.2:3228;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=11;ESP6500_EA_AC=764,7396;ESP6500_EA_GTC=42,680,3358;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014850.3:intron,NM_001033117.2:intron;ESP6500_GL=SRGAP3;ESP6500_GRCh38_POSITION=3:8990475;ESP6500_GTC=626,1725,3831;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014850.3:c.2886+37A>C,NM_001033117.2:c.2814+37A>C;ESP6500_MAF=9.3627,47.3597,24.078;ESP6500_TAC=2977,9387	GT:AD:DP:GQ:PL	0/1:16,16:32:99:422,0,483
chr3	8992874	rs511815	C	T	408.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.138;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=2.984;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.393;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs511815;dbSNPBuildID=83;ANN=T|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|20/21|c.2558+32G>A||||||,T|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|20/21|c.2486+32G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3279;p3_1000G_AF=0.654752;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.6585;p3_1000G_AN=5008;p3_1000G_DP=17746;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.5417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9034558;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6442;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3930,476;ESP6500_AA_AGE=223.0+/-239.6;ESP6500_AA_GTC=1757,416,30;ESP6500_CDS_SIZES=NM_014850.3:3300,NM_001033117.2:3228;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=72;ESP6500_EA_AC=4859,3741;ESP6500_EA_AGE=533.1+/-382.3;ESP6500_EA_GTC=1375,2109,816;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014850.3:intron,NM_001033117.2:intron;ESP6500_GL=SRGAP3;ESP6500_GRCh38_POSITION=3:8992874;ESP6500_GTC=3132,2525,846;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014850.3:c.2558+32G>A,NM_001033117.2:c.2486+32G>A;ESP6500_MAF=43.5,10.8034,32.4235;ESP6500_TAC=8789,4217	GT:AD:DP:GQ:PL	0/1:19,16:35:99:437,0,614
chr3	8994326	rs637172	T	G	2703.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.356;ClippingRankSum=0;DP=219;ExcessHet=3.0103;FS=8.664;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.415;SOR=0.366;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs637172;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|19/21|c.2408+17A>C||||||,G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|19/21|c.2336+17A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2921;p3_1000G_AF=0.583267;p3_1000G_AFR_AF=0.6899;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=20500;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.5417;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9036010;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6472;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2898,1508;ESP6500_AA_AGE=481.2+/-359.0;ESP6500_AA_GTC=948,1002,253;ESP6500_CDS_SIZES=NM_014850.3:3300,NM_001033117.2:3228;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=80;ESP6500_EA_AC=4875,3725;ESP6500_EA_AGE=532.0+/-382.1;ESP6500_EA_GTC=1385,2105,810;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014850.3:intron,NM_001033117.2:intron;ESP6500_GL=SRGAP3;ESP6500_GRCh38_POSITION=3:8994326;ESP6500_GTC=2333,3107,1063;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_014850.3:c.2408+17A>C,NM_001033117.2:c.2336+17A>C;ESP6500_MAF=43.314,34.2261,40.2353;ESP6500_TAC=7773,5233	GT:AD:DP:GQ:PL	0/1:108,110:218:99:2732,0,2837
chr3	9025169	rs421041	T	C	647.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.67;SOR=2.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs421041;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|14/21|c.1678+92A>G||||||,C|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|14/21|c.1606+92A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3925;p3_1000G_AF=0.783746;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=19286;p3_1000G_EAS_AF=0.6954;p3_1000G_EUR_AF=0.7565;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9066853;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8753;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:676,51,0
chr3	9028063	rs416685	A	G	1211.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.29;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs416685;dbSNPBuildID=80;ANN=G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|12/21|c.1540-1068T>C||||||,G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|12/21|c.1467+37T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4178;p3_1000G_AF=0.834265;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.8026;p3_1000G_AN=5008;p3_1000G_DP=19429;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.7664;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9069747;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8855;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4091,315;ESP6500_AA_AGE=166.9+/-198.0;ESP6500_AA_GTC=1903,285,15;ESP6500_CDS_SIZES=NM_014850.3:3300,NM_001033117.2:3228;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=109;ESP6500_EA_AC=6587,2013;ESP6500_EA_AGE=351.0+/-328.1;ESP6500_EA_GTC=2530,1527,243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014850.3:intron,NM_001033117.2:intron;ESP6500_GL=SRGAP3;ESP6500_GRCh38_POSITION=3:9028063;ESP6500_GTC=4433,1812,258;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014850.3:c.1540-1068T>C,NM_001033117.2:c.1467+37T>C;ESP6500_MAF=23.407,7.1493,17.8994;ESP6500_TAC=10678,2328	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1240,120,0
chr3	9047381	rs2292251	G	C	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.403;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.549;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.711;SOR=0.637;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292251;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|10/21|c.1408+10C>G||||||,C|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|10/21|c.1408+10C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=353;p3_1000G_AF=0.0704872;p3_1000G_AFR_AF=0.1104;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=15856;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.003;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9089065;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=386,4020;ESP6500_AA_AGE=789.3+/-415.0;ESP6500_AA_GTC=13,360,1830;ESP6500_CDS_SIZES=NM_014850.3:3300,NM_001033117.2:3228;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=104;ESP6500_EA_AC=12,8588;ESP6500_EA_AGE=818.4+/-406.9;ESP6500_EA_GTC=0,12,4288;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014850.3:intron,NM_001033117.2:intron;ESP6500_GL=SRGAP3;ESP6500_GRCh38_POSITION=3:9047381;ESP6500_GTC=13,372,6118;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014850.3:c.1408+10C>G,NM_001033117.2:c.1408+10C>G;ESP6500_MAF=0.1395,8.7608,3.0601;ESP6500_TAC=398,12608	GT:AD:DP:GQ:PL	0/1:17,11:28:99:310,0,488
chr3	9047494	rs2292250	A	G	662.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.484;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=-1.313;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292250;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|9/21|c.1324-19T>C||||||,G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|9/21|c.1324-19T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=401;p3_1000G_AF=0.0800719;p3_1000G_AFR_AF=0.0794;p3_1000G_AMR_AF=0.0317;p3_1000G_AN=5008;p3_1000G_DP=19008;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9089178;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=331,4075;ESP6500_AA_AGE=173.7+/-203.5;ESP6500_AA_GTC=10,311,1882;ESP6500_CDS_SIZES=NM_014850.3:3300,NM_001033117.2:3228;ESP6500_CG=2.1;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=414,8186;ESP6500_EA_AGE=129.5+/-187.6;ESP6500_EA_GTC=5,404,3891;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014850.3:intron,NM_001033117.2:intron;ESP6500_GL=SRGAP3;ESP6500_GRCh38_POSITION=3:9047494;ESP6500_GTC=15,715,5773;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014850.3:c.1324-19T>C,NM_001033117.2:c.1324-19T>C;ESP6500_MAF=4.814,7.5125,5.7281;ESP6500_TAC=745,12261	GT:AD:DP:GQ:PL	0/1:8,25:33:99:691,0,140
chr3	9047570	rs2244864	C	G	466.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.12;SOR=1.911;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2244864;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|9/21|c.1324-95G>C||||||,G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|9/21|c.1324-95G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3910;p3_1000G_AF=0.780751;p3_1000G_AFR_AF=0.913;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=19201;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.7396;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9089254;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8231;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:495,45,0
chr3	9049467	rs610457	C	G	706.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.073;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.24;SOR=0.602;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs610457;dbSNPBuildID=83;ANN=G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|9/21|c.1324-1992G>C||||||,G|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|9/21|c.1324-1992G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3198;p3_1000G_AF=0.638578;p3_1000G_AFR_AF=0.9054;p3_1000G_AMR_AF=0.4942;p3_1000G_AN=5008;p3_1000G_DP=20093;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9091151;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6299;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,26:45:99:735,0,488
chr3	9060428	rs59248524;rs763413064	C	CTTTTT	123.94	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.61;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs59248524;dbSNPBuildID=144,129;ANN=CTTTTT|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|5/21|c.673-74_673-70dupAAAAA||||||,CTTTTT|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|5/21|c.673-74_673-70dupAAAAA||||||	GT:AD:DP:GQ:PL	1/1:0,3:3:12:160,12,0
chr3	9060453	rs6775479	G	C	18.59	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=1;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=18.59;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6775479;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_014850.3|protein_coding|5/21|c.673-94C>G||||||,C|intron_variant|MODIFIER|SRGAP3|SRGAP3|transcript|NM_001033117.2|protein_coding|5/21|c.673-94C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2938;p3_1000G_AF=0.586661;p3_1000G_AFR_AF=0.4652;p3_1000G_AMR_AF=0.6297;p3_1000G_AN=5008;p3_1000G_DP=11550;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.6262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9102137;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,1:1:3:45,3,0
chr3	9365152	rs1054975	T	C	361.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.227;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1054975;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|THUMPD3|THUMPD3|transcript|NM_001114092.1|protein_coding|2/10|c.84T>C|p.Ser28Ser|232/3775|84/1524|28/507||,C|synonymous_variant|LOW|THUMPD3|THUMPD3|transcript|NM_015453.2|protein_coding|2/10|c.84T>C|p.Ser28Ser|437/3980|84/1524|28/507||;p3_1000G_AA=T|||;p3_1000G_AC=3101;p3_1000G_AF=0.619209;p3_1000G_AFR_AF=0.5454;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=17587;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9406836;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2456,1950;ESP6500_AA_AGE=622.4+/-393.9;ESP6500_AA_GTC=694,1068,441;ESP6500_CDS_SIZES=NM_015453.2:1524,NM_001114092.1:1524;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=98;ESP6500_EA_AC=5223,3377;ESP6500_EA_AGE=640.6+/-399.6;ESP6500_EA_GTC=1592,2039,669;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015453.2:coding-synonymous,NM_001114092.1:coding-synonymous;ESP6500_GL=THUMPD3;ESP6500_GRCh38_POSITION=3:9365152;ESP6500_GTC=2286,3107,1110;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015453.2:c.84T>C,NM_001114092.1:c.84T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015453.2:p.(S28),NM_001114092.1:p.(S28);ESP6500_MAF=39.2674,44.2578,40.958;ESP6500_TAC=7679,5327	GT:AD:DP:GQ:PL	0/1:26,16:42:99:390,0,571
chr3	9365338	rs2648536	T	C	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.633;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=4.36;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-2.193;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2648536;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|THUMPD3|THUMPD3|transcript|NM_001114092.1|protein_coding|2/9|c.252+18T>C||||||,C|intron_variant|MODIFIER|THUMPD3|THUMPD3|transcript|NM_015453.2|protein_coding|2/9|c.252+18T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3160;p3_1000G_AF=0.63099;p3_1000G_AFR_AF=0.5825;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=18266;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.6044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9407022;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7975;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2546,1860;ESP6500_AA_GTC=753,1040,410;ESP6500_CDS_SIZES=NM_015453.2:1524,NM_001114092.1:1524;ESP6500_CG=2.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=73;ESP6500_EA_AC=5222,3378;ESP6500_EA_GTC=1595,2032,673;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015453.2:intron,NM_001114092.1:intron;ESP6500_GL=THUMPD3;ESP6500_GRCh38_POSITION=3:9365338;ESP6500_GTC=2348,3072,1083;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015453.2:c.252+18T>C,NM_001114092.1:c.252+18T>C;ESP6500_MAF=39.2791,42.2152,40.2737;ESP6500_TAC=7768,5238	GT:AD:DP:GQ:PL	0/1:22,20:42:99:471,0,508
chr3	9366759	rs2648535	A	C	78.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.674;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2648535;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|THUMPD3|THUMPD3|transcript|NM_001114092.1|protein_coding|2/9|c.253-149A>C||||||,C|intron_variant|MODIFIER|THUMPD3|THUMPD3|transcript|NM_015453.2|protein_coding|2/9|c.253-149A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3102;p3_1000G_AF=0.619409;p3_1000G_AFR_AF=0.5461;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=19681;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.6034;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9408443;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:99:107,0,100
chr3	9380526	rs2596916	T	C	267.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.517;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.674;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.044;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2596916;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|THUMPD3|THUMPD3|transcript|NM_001114092.1|protein_coding|7/10|c.1032T>C|p.Cys344Cys|1180/3775|1032/1524|344/507||,C|synonymous_variant|LOW|THUMPD3|THUMPD3|transcript|NM_015453.2|protein_coding|7/10|c.1032T>C|p.Cys344Cys|1385/3980|1032/1524|344/507||,C|downstream_gene_variant|MODIFIER|THUMPD3-AS1|THUMPD3-AS1|transcript|NR_132781.1|pseudogene||n.*4738A>G|||||4738|;p3_1000G_AA=T|||;p3_1000G_AC=3091;p3_1000G_AF=0.617212;p3_1000G_AFR_AF=0.5446;p3_1000G_AMR_AF=0.5908;p3_1000G_AN=5008;p3_1000G_DP=17264;p3_1000G_EAS_AF=0.5665;p3_1000G_EUR_AF=0.6093;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9422210;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7945;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2446,1960;ESP6500_AA_AGE=620.6+/-393.6;ESP6500_AA_GTC=685,1076,442;ESP6500_CDS_SIZES=NM_015453.2:1524,NM_001114092.1:1524;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=102;ESP6500_EA_AC=5219,3381;ESP6500_EA_AGE=639.7+/-399.5;ESP6500_EA_GTC=1589,2041,670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015453.2:coding-synonymous,NM_001114092.1:coding-synonymous;ESP6500_GL=THUMPD3;ESP6500_GRCh38_POSITION=3:9380526;ESP6500_GTC=2274,3117,1112;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015453.2:c.1032T>C,NM_001114092.1:c.1032T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015453.2:p.(C344),NM_001114092.1:p.(C344);ESP6500_MAF=39.314,44.4848,41.0657;ESP6500_TAC=7665,5341	GT:AD:DP:GQ:PL	0/1:12,12:24:99:296,0,283
chr3	9380650	rs34405225	TAG	T	103.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.97;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=0.293;SOR=0.446;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs34405225;dbSNPBuildID=126;ANN=T|downstream_gene_variant|MODIFIER|THUMPD3-AS1|THUMPD3-AS1|transcript|NR_132781.1|pseudogene||n.*4612_*4613delCT|||||4613|,T|intron_variant|MODIFIER|THUMPD3|THUMPD3|transcript|NM_001114092.1|protein_coding|7/9|c.1124+35_1124+36delAG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|THUMPD3|THUMPD3|transcript|NM_015453.2|protein_coding|7/9|c.1124+35_1124+36delAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=976;p3_1000G_AF=0.194888;p3_1000G_AFR_AF=0.3238;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=14752;p3_1000G_EAS_AF=0.37;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9422334;p3_1000G_GRCH37_REF=TAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=INDEL;ESP6500_AA_AC=1165,3059;ESP6500_AA_GTC=192,781,1139;ESP6500_CDS_SIZES=NM_015453.2:1524,NM_001114092.1:1524;ESP6500_CG=5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=33;ESP6500_EA_AC=462,7774;ESP6500_EA_GTC=17,428,3673;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015453.2:intron,NM_001114092.1:intron;ESP6500_GL=THUMPD3;ESP6500_GRCh38_POSITION=3:9380650;ESP6500_GTC=209,1209,4812;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015453.2:c.1124+33_1124+34del2,NM_001114092.1:c.1124+33_1124+34del2;ESP6500_MAF=5.6095,27.5805,13.0578;ESP6500_TAC=1627,10833	GT:AD:DP:GQ:PL	0/1:9,4:13:99:141,0,362
chr3	9384227	rs1129170	G	A	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.192;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.805;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1129170;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|THUMPD3|THUMPD3|transcript|NM_001114092.1|protein_coding|9/10|c.1251G>A|p.Lys417Lys|1399/3775|1251/1524|417/507||,A|synonymous_variant|LOW|THUMPD3|THUMPD3|transcript|NM_015453.2|protein_coding|9/10|c.1251G>A|p.Lys417Lys|1604/3980|1251/1524|417/507||,A|downstream_gene_variant|MODIFIER|THUMPD3-AS1|THUMPD3-AS1|transcript|NR_132780.1|pseudogene||n.*4618C>T|||||4618|,A|downstream_gene_variant|MODIFIER|THUMPD3-AS1|THUMPD3-AS1|transcript|NR_132781.1|pseudogene||n.*1037C>T|||||1037|,A|downstream_gene_variant|MODIFIER|THUMPD3-AS1|THUMPD3-AS1|transcript|NR_027007.3|pseudogene||n.*4618C>T|||||4618|;p3_1000G_AA=g|||;p3_1000G_AC=3027;p3_1000G_AF=0.604433;p3_1000G_AFR_AF=0.5371;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=18542;p3_1000G_EAS_AF=0.5655;p3_1000G_EUR_AF=0.5915;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9425911;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA_AC=2407,1999;ESP6500_AA_AGE=615.1+/-392.5;ESP6500_AA_GTC=664,1079,460;ESP6500_CDS_SIZES=NM_015453.2:1524,NM_001114092.1:1524;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=202;ESP6500_EA_AC=5096,3504;ESP6500_EA_AGE=631.9+/-398.5;ESP6500_EA_GTC=1504,2088,708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015453.2:coding-synonymous,NM_001114092.1:coding-synonymous;ESP6500_GL=THUMPD3;ESP6500_GRCh38_POSITION=3:9384227;ESP6500_GTC=2168,3167,1168;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015453.2:c.1251G>A,NM_001114092.1:c.1251G>A;ESP6500_HGVS_PROTEIN_VAR=NM_015453.2:p.(K417),NM_001114092.1:p.(K417);ESP6500_MAF=40.7442,45.37,42.3112;ESP6500_TAC=7503,5503	GT:AD:DP:GQ:PL	0/1:25,20:45:99:548,0,572
chr3	9441631	rs17050347	G	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.75;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=2.894;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=-0.906;SOR=0.337;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17050347;dbSNPBuildID=123;ANN=A|synonymous_variant|LOW|SETD5|SETD5|transcript|NM_001080517.2|protein_coding|9/23|c.849G>A|p.Arg283Arg|1303/6846|849/4329|283/1442||,A|synonymous_variant|LOW|SETD5|SETD5|transcript|NM_001292043.1|protein_coding|11/25|c.555G>A|p.Arg185Arg|1567/7110|555/4035|185/1344||;p3_1000G_AA=G|||;p3_1000G_AC=46;p3_1000G_AF=0.0091853;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=18386;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9483315;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0256;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=16,3756;ESP6500_AA_GTC=0,16,1870;ESP6500_CDS_SIZES=NM_001080517.1:4329;ESP6500_CG=0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=194;ESP6500_EA_AC=100,8094;ESP6500_EA_GTC=1,98,3998;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080517.1:coding-synonymous;ESP6500_GL=SETD5;ESP6500_GRCh38_POSITION=3:9441631;ESP6500_GTC=1,114,5868;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001080517.1:c.849G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001080517.1:p.(R283);ESP6500_MAF=1.2204,0.4242,0.9694;ESP6500_TAC=116,11850	GT:AD:DP:GQ:PL	0/1:23,15:38:99:328,0,652
chr3	9453701	rs2648580	A	G	284.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.884;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=2.03;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2648580;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|SETD5|SETD5|transcript|NM_001080517.2|protein_coding|16/22|c.2347-38A>G||||||,G|intron_variant|MODIFIER|SETD5|SETD5|transcript|NM_001292043.1|protein_coding|18/24|c.2053-38A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3193;p3_1000G_AF=0.63758;p3_1000G_AFR_AF=0.4425;p3_1000G_AMR_AF=0.683;p3_1000G_AN=5008;p3_1000G_DP=18312;p3_1000G_EAS_AF=0.5456;p3_1000G_EUR_AF=0.7783;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9495385;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.819;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1788,1868;ESP6500_AA_GTC=454,880,494;ESP6500_CDS_SIZES=NM_001080517.1:4329;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=52;ESP6500_EA_AC=5966,2198;ESP6500_EA_GTC=2196,1574,312;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080517.1:intron;ESP6500_GL=SETD5;ESP6500_GRCh38_POSITION=3:9453701;ESP6500_GTC=2650,2454,806;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080517.1:c.2347-38A>G;ESP6500_MAF=26.9231,48.9059,34.3993;ESP6500_TAC=7754,4066	GT:AD:DP:GQ:PL	0/1:19,13:32:99:313,0,476
chr3	9506266	rs2625890	G	C	1390.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.2;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2625890;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|LHFPL4|LHFPL4|transcript|NM_198560.2|protein_coding|2/3|c.407-63C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3593;p3_1000G_AF=0.717452;p3_1000G_AFR_AF=0.652;p3_1000G_AMR_AF=0.7248;p3_1000G_AN=5008;p3_1000G_DP=18094;p3_1000G_EAS_AF=0.9147;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9547950;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.68;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,32:32:96:1|1:9506266_G_C:1419,96,0
chr3	9506275	rs2625889	C	T	1141.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.55;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2625889;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|LHFPL4|LHFPL4|transcript|NM_198560.2|protein_coding|2/3|c.407-72G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3574;p3_1000G_AF=0.713658;p3_1000G_AFR_AF=0.652;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=18372;p3_1000G_EAS_AF=0.9127;p3_1000G_EUR_AF=0.6372;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9547959;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6636;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:9506266_G_C:1170,78,0
chr3	9685318	rs787836	G	C	130.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.419;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=1.63;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs787836;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_001077525.2|protein_coding|13/18|c.1164+71G>C||||||,C|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_001077526.2|protein_coding|13/17|c.1164+71G>C||||||,C|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_022485.4|protein_coding|13/16|c.1164+71G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=892;p3_1000G_AF=0.178115;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=20432;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.1859;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9727002;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=95,1289;ESP6500_AA_GTC=1,93,598;ESP6500_CDS_SIZES=NM_022485.4:1617,NM_001077526.2:1797,NM_001077525.2:1953;ESP6500_CG=-6.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=69;ESP6500_EA_AC=553,2629;ESP6500_EA_GTC=49,455,1087;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022485.4:intron,NM_001077526.2:intron,NM_001077525.2:intron;ESP6500_GL=MTMR14;ESP6500_GRCh38_POSITION=3:9685318;ESP6500_GTC=50,548,1685;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_022485.4:c.1164+71G>C,NM_001077526.2:c.1164+71G>C,NM_001077525.2:c.1164+71G>C;ESP6500_MAF=17.379,6.8642,14.1919;ESP6500_TAC=648,3918	GT:AD:DP:GQ:PL	0/1:17,8:25:99:159,0,467
chr3	9689184	rs159142	G	C	327.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.42;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs159142;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_001077525.2|protein_coding|16/18|c.1433+102G>C||||||,C|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_001077526.2|protein_coding|16/17|c.1433+102G>C||||||,C|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_022485.4|protein_coding|16/16|c.1433+102G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4585;p3_1000G_AF=0.915535;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.8919;p3_1000G_AN=5008;p3_1000G_DP=16703;p3_1000G_EAS_AF=0.9593;p3_1000G_EUR_AF=0.7734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9730868;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:356,27,0
chr3	9701714	rs144534173;rs201157411;rs201658912;rs4021696	TGGAG	T	766.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs144534173,rs201658912,rs201157411;dbSNPBuildID=134,137,108,137;ANN=T|upstream_gene_variant|MODIFIER|CPNE9|CPNE9|transcript|NM_153635.2|protein_coding||c.-2282_-2279delGGAG|||||2111|,T|upstream_gene_variant|MODIFIER|CPNE9|CPNE9|transcript|NM_001308388.1|protein_coding||c.-2282_-2279delGGAG|||||2092|,T|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_001077525.2|protein_coding|18/18|c.1770-66_1770-63delGAGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_001077526.2|protein_coding|17/17|c.1614-66_1614-63delGAGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|MTMR14|MTMR14|transcript|NM_022485.4|protein_coding|16/16|c.1434-66_1434-63delGAGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4547;p3_1000G_AF=0.907947;p3_1000G_AFR_AF=0.9856;p3_1000G_AMR_AF=0.8876;p3_1000G_AN=5008;p3_1000G_DP=20663;p3_1000G_EAS_AF=0.9563;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9743398;p3_1000G_GRCH37_REF=TGGAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:804,54,0
chr3	9715827	rs3914774	T	C	396.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.23;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3914774;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|CPNE9|CPNE9|transcript|NM_153635.2|protein_coding|12/19|c.823-147T>C||||||,C|intron_variant|MODIFIER|CPNE9|CPNE9|transcript|NM_001308388.1|protein_coding|12/19|c.823-147T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1432;p3_1000G_AF=0.285942;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=18072;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.2942;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9757511;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4254;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:425,30,0
chr3	9726652	rs3868893	C	G	1280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.347;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.478;SOR=0.644;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3868893;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|CPNE9|CPNE9|transcript|NM_153635.2|protein_coding|17/19|c.1345-13C>G||||||,G|intron_variant|MODIFIER|CPNE9|CPNE9|transcript|NM_001308388.1|protein_coding|17/19|c.1345-13C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2544;p3_1000G_AF=0.507987;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=18266;p3_1000G_EAS_AF=0.502;p3_1000G_EUR_AF=0.3976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9768336;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2158,1740;ESP6500_AA_GTC=603,952,394;ESP6500_CDS_SIZES=NM_153635.2:1662;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=126;ESP6500_EA_AC=3355,4939;ESP6500_EA_GTC=688,1979,1480;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153635.2:intron;ESP6500_GL=CPNE9;ESP6500_GRCh38_POSITION=3:9726652;ESP6500_GTC=1291,2931,1874;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153635.2:c.1345-13C>G;ESP6500_MAF=40.4509,44.6383,45.2182;ESP6500_TAC=5513,6679	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1309,0,1197
chr3	9741463	rs696513	A	G	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.854;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=6.455;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=-2.515;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs696513;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|BRPF1|BRPF1|transcript|NM_001003694.1|protein_coding|5/13|c.1854+24A>G||||||,G|intron_variant|MODIFIER|BRPF1|BRPF1|transcript|NM_001319049.1|protein_coding|5/12|c.1854+24A>G||||||,G|intron_variant|MODIFIER|BRPF1|BRPF1|transcript|NM_001319050.1|protein_coding|5/13|c.1854+24A>G||||||,G|intron_variant|MODIFIER|BRPF1|BRPF1|transcript|NM_004634.2|protein_coding|5/13|c.1854+24A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=973;p3_1000G_AF=0.194289;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.268;p3_1000G_AN=5008;p3_1000G_DP=16266;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0.4095;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9783147;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2117;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=636,3754;ESP6500_AA_GTC=51,534,1610;ESP6500_CDS_SIZES=NM_004634.2:3645,NM_001003694.1:3663;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=28;ESP6500_EA_AC=3152,5442;ESP6500_EA_GTC=585,1982,1730;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004634.2:intron,NM_001003694.1:intron;ESP6500_GL=BRPF1;ESP6500_GRCh38_POSITION=3:9741463;ESP6500_GTC=636,2516,3340;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004634.2:c.1854+24A>G,NM_001003694.1:c.1854+24A>G;ESP6500_MAF=36.6768,14.4875,29.1744;ESP6500_TAC=3788,9196	GT:AD:DP:GQ:PL	0/1:6,3:9:66:66,0,199
chr3	9756456	rs2072668	C	G	972.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.52;SOR=2.387;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2072668;dbSNPBuildID=96;ANN=G|downstream_gene_variant|MODIFIER|CAMK1|CAMK1|transcript|NM_003656.4|protein_coding||c.*1083G>C|||||889|,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016821.2|protein_coding|4/6|c.748-15C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_002542.5|protein_coding|4/6|c.748-15C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016819.3|protein_coding|4/5|c.748-15C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016820.3|protein_coding|4/6|c.748-15C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016826.2|protein_coding|4/4|c.747+1571C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016827.2|protein_coding|3/3|c.565+4507C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016828.2|protein_coding|4/7|c.748-15C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016829.2|protein_coding|4/7|c.748-15C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1680;p3_1000G_AF=0.335463;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.3026;p3_1000G_AN=5008;p3_1000G_DP=18691;p3_1000G_EAS_AF=0.5486;p3_1000G_EUR_AF=0.2028;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9798140;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1186,3220;ESP6500_AA_AGE=415.9+/-337.4;ESP6500_AA_GTC=159,868,1176;ESP6500_CDS_SIZES=NM_016829.2:969,NM_016828.2:1071,NM_016827.2:588,NM_016826.2:1074,NM_016821.2:1275,NM_016820.3:1233,NM_016819.3:975,NM_002542.5:1038;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=63;ESP6500_EA_AC=1984,6616;ESP6500_EA_AGE=348.8+/-327.2;ESP6500_EA_GTC=236,1512,2552;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016829.2:intron,NM_016828.2:intron,NM_016827.2:intron,NM_016826.2:intron,NM_016821.2:intron,NM_016820.3:intron,NM_016819.3:intron,NM_002542.5:intron;ESP6500_GL=OGG1;ESP6500_GRCh38_POSITION=3:9756456;ESP6500_GTC=395,2380,3728;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_016829.2:c.748-15C>G,NM_016828.2:c.748-15C>G,NM_016827.2:c.565+4507C>G,NM_016826.2:c.747+1571C>G,NM_016821.2:c.748-15C>G,NM_016820.3:c.748-15C>G,NM_016819.3:c.748-15C>G,NM_002542.5:c.748-15C>G;ESP6500_MAF=23.0698,26.9178,24.3734;ESP6500_TAC=3170,9836	GT:AD:DP:GQ:PL	1/1:0,27:27:81:1001,81,0
chr3	9757089	rs1052133	C	G	2763.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.98;SOR=1.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052133;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|OGG1|OGG1|transcript|NM_002542.5|protein_coding|7/7|c.977C>G|p.Ser326Cys|1320/1636|977/1038|326/345||,G|missense_variant|MODERATE|OGG1|OGG1|transcript|NM_016820.3|protein_coding|7/7|c.994C>G|p.Pro332Ala|1337/1653|994/1233|332/410||,G|3_prime_UTR_variant|MODIFIER|OGG1|OGG1|transcript|NM_016819.3|protein_coding|6/6|c.*246C>G|||||246|,G|downstream_gene_variant|MODIFIER|CAMK1|CAMK1|transcript|NM_003656.4|protein_coding||c.*450G>C|||||256|,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016821.2|protein_coding|6/6|c.948+273C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016826.2|protein_coding|4/4|c.747+2204C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016827.2|protein_coding|3/3|c.565+5140C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016828.2|protein_coding|6/7|c.948+273C>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016829.2|protein_coding|6/7|c.948+273C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1513;p3_1000G_AF=0.302117;p3_1000G_AFR_AF=0.1551;p3_1000G_AMR_AF=0.2939;p3_1000G_AN=5008;p3_1000G_DP=18217;p3_1000G_EAS_AF=0.5476;p3_1000G_EUR_AF=0.2028;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9798773;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3558;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=767,3639;ESP6500_AA_AGE=311.1+/-291.9;ESP6500_AA_GTC=74,619,1510;ESP6500_CDS_SIZES=NM_016829.2:969,NM_016828.2:1071,NM_016827.2:588,NM_016826.2:1074,NM_016821.2:1275,NM_016820.3:1233,NM_016819.3:975,NM_002542.5:1038;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=112;ESP6500_EA_AC=1979,6621;ESP6500_EA_AGE=346.1+/-326.1;ESP6500_EA_GTC=235,1509,2556;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016829.2:intron,NM_016828.2:intron,NM_016827.2:intron,NM_016826.2:intron,NM_016821.2:intron,NM_016820.3:missense,NM_016819.3:utr-3,NM_002542.5:missense;ESP6500_GL=OGG1;ESP6500_GRCh38_POSITION=3:9757089;ESP6500_GS=.,.,.,.,.,27,.,112;ESP6500_GTC=309,2128,4066;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_016829.2:c.948+273C>G,NM_016828.2:c.948+273C>G,NM_016827.2:c.565+5140C>G,NM_016826.2:c.747+2204C>G,NM_016821.2:c.948+273C>G,NM_016820.3:c.994C>G,NM_016819.3:c.*246C>G,NM_002542.5:c.977C>G;ESP6500_HGVS_PROTEIN_VAR=.,.,.,.,.,NM_016820.3:p.(P332A),.,NM_002542.5:p.(S326C);ESP6500_MAF=23.0116,17.4081,21.1133;ESP6500_PH=.,.,.,.,.,benign:0.245,.,benign:0.245;ESP6500_TAC=2746,10260	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2792,237,0
chr3	9759396	rs2304277	G	A	534.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.19;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=4.887;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.267;SOR=0.405;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304277;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|OGG1|OGG1|transcript|NM_002542.5|protein_coding||c.*2246G>A|||||1991|,A|downstream_gene_variant|MODIFIER|OGG1|OGG1|transcript|NM_016819.3|protein_coding||c.*2553G>A|||||1991|,A|downstream_gene_variant|MODIFIER|OGG1|OGG1|transcript|NM_016820.3|protein_coding||c.*2068G>A|||||1991|,A|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016821.2|protein_coding|6/6|c.948+2580G>A||||||,A|intron_variant|MODIFIER|CAMK1|CAMK1|transcript|NM_003656.4|protein_coding|10/11|c.912+92C>T||||||,A|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016826.2|protein_coding|4/4|c.747+4511G>A||||||,A|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016827.2|protein_coding|3/3|c.566-6413G>A||||||,A|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016828.2|protein_coding|7/7|c.1048+110G>A||||||,A|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016829.2|protein_coding|7/7|c.*32+110G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1763;p3_1000G_AF=0.352037;p3_1000G_AFR_AF=0.385;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=20754;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.1789;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9801080;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3303;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,19:37:99:563,0,639
chr3	9761442	rs17252807	A	G	588.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.148;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17252807;dbSNPBuildID=123;ANN=G|downstream_gene_variant|MODIFIER|OGG1|OGG1|transcript|NM_002542.5|protein_coding||c.*4292A>G|||||4037|,G|downstream_gene_variant|MODIFIER|OGG1|OGG1|transcript|NM_016819.3|protein_coding||c.*4599A>G|||||4037|,G|downstream_gene_variant|MODIFIER|OGG1|OGG1|transcript|NM_016820.3|protein_coding||c.*4114A>G|||||4037|,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016821.2|protein_coding|6/6|c.949-4367A>G||||||,G|intron_variant|MODIFIER|CAMK1|CAMK1|transcript|NM_003656.4|protein_coding|7/11|c.632+19T>C||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016826.2|protein_coding|4/4|c.748-4367A>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016827.2|protein_coding|3/3|c.566-4367A>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016828.2|protein_coding|7/7|c.1048+2156A>G||||||,G|intron_variant|MODIFIER|OGG1|OGG1|transcript|NM_016829.2|protein_coding|7/7|c.*32+2156A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1581;p3_1000G_AF=0.315695;p3_1000G_AFR_AF=0.1815;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=18541;p3_1000G_EAS_AF=0.1627;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9803126;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1005,3401;ESP6500_AA_AGE=374.2+/-321.1;ESP6500_AA_GTC=138,729,1336;ESP6500_CDS_SIZES=NM_016829.2:969,NM_016828.2:1071,NM_016827.2:588,NM_016826.2:1074,NM_016821.2:1275,NM_003656.4:1113;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=92;ESP6500_EA_AC=4575,4025;ESP6500_EA_AGE=597.1+/-393.7;ESP6500_EA_GTC=1246,2083,971;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016829.2:intron,NM_016828.2:intron,NM_016827.2:intron,NM_016826.2:intron,NM_016821.2:intron,NM_003656.4:intron;ESP6500_GL=OGG1,CAMK1;ESP6500_GRCh38_POSITION=3:9761442;ESP6500_GTC=1384,2812,2307;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016829.2:c.*2188A>G,NM_016828.2:c.1048+2156A>G,NM_016827.2:c.566-4367A>G,NM_016826.2:c.748-4367A>G,NM_016821.2:c.949-4367A>G,NM_003656.4:c.632+19T>C;ESP6500_MAF=46.8023,22.8098,42.9033;ESP6500_TAC=5580,7426	GT:AD:DP:GQ:PL	0/1:12,22:34:99:617,0,282
chr3	9780591	rs3868897	C	T	168.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.78;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3868897;dbSNPBuildID=108;ANN=T|downstream_gene_variant|MODIFIER|TADA3|TADA3|transcript|NM_133480.2|protein_coding||c.*3433G>A|||||2537|,T|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_001278270.1|protein_coding|8/8|c.1107-42G>A||||||,T|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_006354.3|protein_coding|8/8|c.1107-42G>A||||||,T|intron_variant|MODIFIER|TADA3|TADA3|transcript|NR_103488.1|pseudogene|6/6|n.1366-42G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3272;p3_1000G_AF=0.653355;p3_1000G_AFR_AF=0.5318;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=15368;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.7614;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9822275;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2515,1887;ESP6500_AA_GTC=739,1037,425;ESP6500_CDS_SIZES=NM_006354.2:1299;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=15;ESP6500_EA_AC=6199,2401;ESP6500_EA_GTC=2255,1689,356;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006354.2:intron;ESP6500_GL=TADA3;ESP6500_GRCh38_POSITION=3:9780591;ESP6500_GTC=2994,2726,781;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006354.2:c.1107-42G>A;ESP6500_MAF=27.9186,42.8669,32.9795;ESP6500_TAC=8714,4288	GT:AD:DP:GQ:PL	1/1:0,5:5:15:197,15,0
chr3	9781618	rs6443264	T	G	736.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6443264;dbSNPBuildID=116;ANN=G|downstream_gene_variant|MODIFIER|TADA3|TADA3|transcript|NM_133480.2|protein_coding||c.*2406A>C|||||1510|,G|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_001278270.1|protein_coding|8/8|c.1107-1069A>C||||||,G|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_006354.3|protein_coding|8/8|c.1107-1069A>C||||||,G|intron_variant|MODIFIER|TADA3|TADA3|transcript|NR_103488.1|pseudogene|6/6|n.1366-1069A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1662;p3_1000G_AF=0.331869;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.2954;p3_1000G_AN=5008;p3_1000G_DP=16712;p3_1000G_EAS_AF=0.5466;p3_1000G_EUR_AF=0.2038;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9823302;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3436;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:765,69,0
chr3	9786992	rs7621556	G	C	420.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.65;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7621556;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_001278270.1|protein_coding|6/8|c.810+14C>G||||||,C|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_006354.3|protein_coding|6/8|c.810+14C>G||||||,C|intron_variant|MODIFIER|TADA3|TADA3|transcript|NR_103488.1|pseudogene|4/6|n.1069+14C>G||||||,C|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_133480.2|protein_coding|6/7|c.810+14C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1481;p3_1000G_AF=0.295727;p3_1000G_AFR_AF=0.1838;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=18577;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.1809;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9828676;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=811,3595;ESP6500_AA_AGE=317.2+/-295.0;ESP6500_AA_GTC=67,677,1459;ESP6500_CDS_SIZES=NM_133480.1:1110,NM_006354.2:1299;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=76;ESP6500_EA_AC=1769,6831;ESP6500_EA_AGE=314.7+/-311.9;ESP6500_EA_GTC=191,1387,2722;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133480.1:intron,NM_006354.2:intron;ESP6500_GL=TADA3;ESP6500_GRCh38_POSITION=3:9786992;ESP6500_GTC=258,2064,4181;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_133480.1:c.810+14C>G,NM_006354.2:c.810+14C>G;ESP6500_MAF=20.5698,18.4067,19.837;ESP6500_TAC=2580,10426	GT:AD:DP:GQ:PL	0/1:26,16:42:99:449,0,761
chr3	9787542	rs293786	A	C	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.493;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs293786;dbSNPBuildID=79;ANN=C|upstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024959.2|protein_coding||c.-14155A>C|||||4953|,C|upstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024960.2|protein_coding||c.-14155A>C|||||4953|,C|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_001278270.1|protein_coding|4/8|c.565-202T>G||||||,C|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_006354.3|protein_coding|4/8|c.565-202T>G||||||,C|intron_variant|MODIFIER|TADA3|TADA3|transcript|NR_103488.1|pseudogene|2/6|n.824-202T>G||||||,C|intron_variant|MODIFIER|TADA3|TADA3|transcript|NM_133480.2|protein_coding|4/7|c.565-202T>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2347;p3_1000G_AF=0.46865;p3_1000G_AFR_AF=0.4879;p3_1000G_AMR_AF=0.4467;p3_1000G_AN=5008;p3_1000G_DP=19301;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.7157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9829226;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,2:10:55:55,0,215
chr3	9793221	rs2276797	C	T	93.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.017;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-1.21;SOR=1.508;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276797;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|TADA3|TADA3|transcript|NM_001278270.1|protein_coding||c.-1755G>A|||||210|,T|upstream_gene_variant|MODIFIER|TADA3|TADA3|transcript|NM_006354.3|protein_coding||c.-1755G>A|||||210|,T|upstream_gene_variant|MODIFIER|TADA3|TADA3|transcript|NR_103488.1|pseudogene||n.-210G>A|||||210|,T|upstream_gene_variant|MODIFIER|TADA3|TADA3|transcript|NM_133480.2|protein_coding||c.-1755G>A|||||210|,T|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|1/11|c.3+97C>T||||||,T|intron_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001198780.1|protein_coding|1/5|c.60+40C>T||||||,T|intron_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024959.2|protein_coding|1/5|c.-268+516C>T||||||,T|intron_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024960.2|protein_coding|1/5|c.-268+661C>T||||||,T|intron_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_005718.4|protein_coding|1/5|c.3+97C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1053;p3_1000G_AF=0.210264;p3_1000G_AFR_AF=0.0234;p3_1000G_AMR_AF=0.1772;p3_1000G_AN=5008;p3_1000G_DP=12289;p3_1000G_EAS_AF=0.4573;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9834905;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,5:10:99:122,0,161
chr3	9800305	rs6443266	A	G	639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=1.23;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6443266;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|3/11|c.234+9A>G||||||,G|intron_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001198780.1|protein_coding|3/5|c.291+9A>G||||||,G|intron_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024959.2|protein_coding|3/5|c.-37+9A>G||||||,G|intron_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024960.2|protein_coding|3/5|c.-37+9A>G||||||,G|intron_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_005718.4|protein_coding|3/5|c.234+9A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3282;p3_1000G_AF=0.655351;p3_1000G_AFR_AF=0.5121;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=20133;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.7734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9841989;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7096;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2373,1751;ESP6500_AA_GTC=684,1005,373;ESP6500_CDS_SIZES=NM_005718.4:507,NM_001198793.1:1878,NM_001198780.1:564,NM_001024960.2:237,NM_001024959.2:237;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=64;ESP6500_EA_AC=6165,2253;ESP6500_EA_GTC=2262,1641,306;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005718.4:intron,NM_001198793.1:intron,NM_001198780.1:intron,NM_001024960.2:intron,NM_001024959.2:intron;ESP6500_GL=ARPC4,ARPC4-TTLL3;ESP6500_GRCh38_POSITION=3:9800305;ESP6500_GTC=2946,2646,679;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005718.4:c.234+9A>G,NM_001198793.1:c.234+9A>G,NM_001198780.1:c.291+9A>G,NM_001024960.2:c.-1392A>G,NM_001024959.2:c.-1392A>G;ESP6500_MAF=26.7641,42.4588,31.9247;ESP6500_TAC=8538,4004	GT:AD:DP:GQ:PL	1/1:0,21:21:63:668,63,0
chr3	9809959	rs140068961;rs71626937	G	GGGGCGCGGGATCAGGGGCCCTGGGAGGGC	97.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=1.179;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs71626937;dbSNPBuildID=134,130;ANN=GGGGCGCGGGATCAGGGGCCCTGGGAGGGC|5_prime_UTR_variant|MODIFIER|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|1/13|c.-46_-18dupGGCGCGGGATCAGGGGCCCTGGGAGGGCG|||||17|INFO_REALIGN_3_PRIME,GGGGCGCGGGATCAGGGGCCCTGGGAGGGC|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001198780.1|protein_coding||c.*3744_*3745insGGGCGCGGGATCAGGGGCCCTGGGAGGGC|||||2855|,GGGGCGCGGGATCAGGGGCCCTGGGAGGGC|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024959.2|protein_coding||c.*3744_*3745insGGGCGCGGGATCAGGGGCCCTGGGAGGGC|||||2855|,GGGGCGCGGGATCAGGGGCCCTGGGAGGGC|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024960.2|protein_coding||c.*3744_*3745insGGGCGCGGGATCAGGGGCCCTGGGAGGGC|||||2855|,GGGGCGCGGGATCAGGGGCCCTGGGAGGGC|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_005718.4|protein_coding||c.*3744_*3745insGGGCGCGGGATCAGGGGCCCTGGGAGGGC|||||2855|,GGGGCGCGGGATCAGGGGCCCTGGGAGGGC|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|4/11|c.331-2982_331-2954dupGGCGCGGGATCAGGGGCCCTGGGAGGGCG||||||INFO_REALIGN_3_PRIME,GGGGCGCGGGATCAGGGGCCCTGGGAGGGC|non_coding_transcript_exon_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|1/11|n.2_30dupGGCGCGGGATCAGGGGCCCTGGGAGGGCG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,3:3:9:134,9,0
chr3	9810134	rs141059815	T	C	451.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=-0.342;SOR=0.722;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141059815;dbSNPBuildID=134;ANN=C|missense_variant|MODERATE|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|1/13|c.128T>C|p.Leu43Pro|175/3662|128/2748|43/915||,C|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001198780.1|protein_coding||c.*3919T>C|||||3029|,C|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024959.2|protein_coding||c.*3919T>C|||||3029|,C|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024960.2|protein_coding||c.*3919T>C|||||3029|,C|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_005718.4|protein_coding||c.*3919T>C|||||3029|,C|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|4/11|c.331-2809T>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|1/11|n.175T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=342;p3_1000G_AF=0.0682907;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=8064;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9851818;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,15:23:99:480,0,187
chr3	9810375	rs34761997;rs5846648	C	CGAT	1132.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.47;SOR=0.941;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs5846648,rs34761997;dbSNPBuildID=126,130;ANN=CGAT|disruptive_inframe_insertion|MODERATE|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|1/13|c.371_372insTGA|p.Asp124dup|419/3662|372/2748|124/915||INFO_REALIGN_3_PRIME,CGAT|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001198780.1|protein_coding||c.*4160_*4161insGAT|||||3271|,CGAT|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024959.2|protein_coding||c.*4160_*4161insGAT|||||3271|,CGAT|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_001024960.2|protein_coding||c.*4160_*4161insGAT|||||3271|,CGAT|downstream_gene_variant|MODIFIER|ARPC4|ARPC4|transcript|NM_005718.4|protein_coding||c.*4160_*4161insGAT|||||3271|,CGAT|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|4/11|c.331-2566_331-2565insTGA||||||INFO_REALIGN_3_PRIME,CGAT|non_coding_transcript_exon_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|1/11|n.418_419insTGA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4087;p3_1000G_AF=0.816094;p3_1000G_AFR_AF=0.8714;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=10372;p3_1000G_EAS_AF=0.748;p3_1000G_EUR_AF=0.8996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9852059;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7822;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,25:25:78:1170,78,0
chr3	9817776	rs3806671	C	T	488.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.939;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.306;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3806671;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|7/11|c.712+17C>T||||||,T|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|5/12|c.859+17C>T||||||,T|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|5/10|n.1261+17C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1693;p3_1000G_AF=0.338059;p3_1000G_AFR_AF=0.2209;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=19208;p3_1000G_EAS_AF=0.5268;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9859460;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=834,3126;ESP6500_AA_GTC=84,666,1230;ESP6500_CDS_SIZES=NM_001198793.1:1878,NM_001025930.3:2748;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=50;ESP6500_EA_AC=1961,6355;ESP6500_EA_GTC=241,1479,2438;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001198793.1:intron,NM_001025930.3:intron;ESP6500_GL=TTLL3,ARPC4-TTLL3;ESP6500_GRCh38_POSITION=3:9817776;ESP6500_GTC=325,2145,3668;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001198793.1:c.712+17C>T,NM_001025930.3:c.859+17C>T;ESP6500_MAF=23.581,21.0606,22.768;ESP6500_TAC=2795,9481	GT:AD:DP:GQ:PL	0/1:14,20:34:99:517,0,390
chr3	9818590	rs147069178	G	A	459.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.852;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.773;MLEAC=1;MLEAF=0.5;MQ=59.95;MQRankSum=1.08;QD=11.79;ReadPosRankSum=-0.828;SOR=1.568;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs147069178;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|7/11|c.712+831G>A||||||,A|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|5/12|c.860-232G>A||||||,A|non_coding_transcript_exon_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|6/11|n.1297G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=594;p3_1000G_AF=0.11861;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.1066;p3_1000G_AN=5008;p3_1000G_DP=19636;p3_1000G_EAS_AF=0.0496;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9860274;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,20:39:99:1|0:9818580_G_T:488,0,466
chr3	9818939	rs3806668	T	G	1361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.67;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3806668;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|7/11|c.712+1180T>G||||||,G|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|6/12|c.958+19T>G||||||,G|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|6/10|n.1627+19T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1690;p3_1000G_AF=0.33746;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.3012;p3_1000G_AN=5008;p3_1000G_DP=20956;p3_1000G_EAS_AF=0.5347;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9860623;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=764,3358;ESP6500_AA_GTC=84,596,1381;ESP6500_CDS_SIZES=NM_001198793.1:1878,NM_001025930.3:2748;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=121;ESP6500_EA_AC=1856,6566;ESP6500_EA_GTC=244,1368,2599;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001198793.1:intron,NM_001025930.3:intron;ESP6500_GL=TTLL3,ARPC4-TTLL3;ESP6500_GRCh38_POSITION=3:9818939;ESP6500_GTC=328,1964,3980;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001198793.1:c.712+1180T>G,NM_001025930.3:c.958+19T>G;ESP6500_MAF=22.0375,18.5347,20.8865;ESP6500_TAC=2620,9924	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1390,129,0
chr3	9829346	rs2290305	T	G	447.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.04;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.372;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.419;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290305;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|11/12|c.1688T>G|p.Met563Arg|2262/3987|1688/1878|563/625||,G|missense_variant|MODERATE|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|10/13|c.1934T>G|p.Met645Arg|1981/3662|1934/2748|645/915||,G|non_coding_transcript_exon_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|10/11|n.2435T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2413;p3_1000G_AF=0.481829;p3_1000G_AFR_AF=0.5575;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=20288;p3_1000G_EAS_AF=0.2173;p3_1000G_EUR_AF=0.7296;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9871030;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2577,1829;ESP6500_AA_GTC=759,1059,385;ESP6500_CDS_SIZES=NM_001198793.1:1878,NM_001025930.3:2748;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=5983,2617;ESP6500_EA_GTC=2103,1777,420;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001198793.1:missense,NM_001025930.3:missense;ESP6500_GL=TTLL3,ARPC4-TTLL3;ESP6500_GRCh38_POSITION=3:9829346;ESP6500_GS=91,91;ESP6500_GTC=2862,2836,805;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001198793.1:c.1688T>G,NM_001025930.3:c.1934T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001198793.1:p.(M563R),NM_001025930.3:p.(M645R);ESP6500_MAF=30.4302,41.5116,34.1842;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=8560,4446	GT:AD:DP:GQ:PL	0/1:22,16:38:99:476,0,607
chr3	9832986	rs7622954	G	A	65.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.655;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=-1.242;SOR=0.495;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7622954;dbSNPBuildID=116;ANN=A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_173659.3|protein_coding||c.*5030C>T|||||4863|,A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_001142547.1|protein_coding||c.*5030C>T|||||4863|,A|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|11/11|c.1738-1695G>A||||||,A|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|10/12|c.1984-118G>A||||||,A|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|10/10|n.2485-1695G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2410;p3_1000G_AF=0.48123;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=19805;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.7296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9874670;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4162;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,4:9:94:94,0,163
chr3	9833233	rs78141123	G	A	136.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.09;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=5.927;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=-1.784;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78141123;dbSNPBuildID=131;ANN=A|missense_variant|MODERATE|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|11/13|c.2113G>A|p.Gly705Ser|2160/3662|2113/2748|705/915||,A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_173659.3|protein_coding||c.*4783C>T|||||4616|,A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_001142547.1|protein_coding||c.*4783C>T|||||4616|,A|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|11/11|c.1738-1448G>A||||||,A|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|10/10|n.2485-1448G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=10;p3_1000G_AF=0.00199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16439;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9874917;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1,3819;ESP6500_AA_GTC=0,1,1909;ESP6500_CDS_SIZES=NM_001198793.1:1878,NM_001025930.3:2748;ESP6500_CG=1.4;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=29;ESP6500_EA_AC=0,8222;ESP6500_EA_GTC=0,0,4111;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001198793.1:intron,NM_001025930.3:missense;ESP6500_GL=TTLL3,ARPC4-TTLL3;ESP6500_GRCh38_POSITION=3:9833233;ESP6500_GS=.,56;ESP6500_GTC=0,1,6020;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001198793.1:c.1738-1448G>A,NM_001025930.3:c.2113G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001025930.3:p.(G705S);ESP6500_MAF=0.0,0.0262,0.0083;ESP6500_PH=.,benign:0.001;ESP6500_TAC=1,12041	GT:AD:DP:GQ:PL	0/1:13,6:19:99:165,0,378
chr3	9834611	rs35783864	G	A	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.612;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=-0.2;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35783864;dbSNPBuildID=126;ANN=A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_173659.3|protein_coding||c.*3405C>T|||||3238|,A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_001142547.1|protein_coding||c.*3405C>T|||||3238|,A|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|11/11|c.1738-70G>A||||||,A|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|11/12|c.2126-70G>A||||||,A|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|10/10|n.2485-70G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1440;p3_1000G_AF=0.28754;p3_1000G_AFR_AF=0.1384;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=19266;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.1799;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9876295;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3732;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,10:33:99:0|1:9834611_G_A:265,0,766
chr3	9834617	rs13088594	G	T	1356.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.91;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13088594;dbSNPBuildID=121;ANN=T|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_173659.3|protein_coding||c.*3399C>A|||||3232|,T|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_001142547.1|protein_coding||c.*3399C>A|||||3232|,T|intron_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|11/11|c.1738-64G>T||||||,T|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|11/12|c.2126-64G>T||||||,T|intron_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|10/10|n.2485-64G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4114;p3_1000G_AF=0.821486;p3_1000G_AFR_AF=0.8654;p3_1000G_AMR_AF=0.7464;p3_1000G_AN=5008;p3_1000G_DP=19181;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9876301;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,36:36:99:1|1:9834611_G_A:1385,107,0
chr3	9835235	rs1057278	G	A	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.818;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.22;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.732;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057278;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|13/13|c.2494G>A|p.Ala832Thr|2541/3662|2494/2748|832/915||,A|3_prime_UTR_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|12/12|c.*414G>A|||||414|,A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_173659.3|protein_coding||c.*2781C>T|||||2614|,A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_001142547.1|protein_coding||c.*2781C>T|||||2614|,A|non_coding_transcript_exon_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|11/11|n.3039G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=675;p3_1000G_AF=0.134784;p3_1000G_AFR_AF=0.2572;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=19877;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.1243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9876919;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=910,3038;ESP6500_AA_GTC=89,732,1153;ESP6500_CDS_SIZES=NM_001198793.1:1878,NM_001025930.3:2748;ESP6500_CG=0.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=65;ESP6500_EA_AC=1329,6977;ESP6500_EA_GTC=115,1099,2939;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001198793.1:utr-3,NM_001025930.3:missense;ESP6500_GL=TTLL3,ARPC4-TTLL3;ESP6500_GRCh38_POSITION=3:9835235;ESP6500_GS=.,58;ESP6500_GTC=204,1831,4092;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001198793.1:c.*414G>A,NM_001025930.3:c.2494G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001025930.3:p.(A832T);ESP6500_MAF=16.0005,23.0496,18.2716;ESP6500_PH=.,benign:0.009;ESP6500_TAC=2239,10015	GT:AD:DP:GQ:PL	0/1:19,15:34:99:380,0,529
chr3	9835303	rs1057281	G	A	116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.894;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.31;ReadPosRankSum=0;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1057281;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|TTLL3|TTLL3|transcript|NM_001025930.3|protein_coding|13/13|c.2562G>A|p.Arg854Arg|2609/3662|2562/2748|854/915||,A|3_prime_UTR_variant|MODIFIER|ARPC4-TTLL3|ARPC4-TTLL3|transcript|NM_001198793.1|protein_coding|12/12|c.*482G>A|||||482|,A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_173659.3|protein_coding||c.*2713C>T|||||2546|,A|downstream_gene_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_001142547.1|protein_coding||c.*2713C>T|||||2546|,A|non_coding_transcript_exon_variant|MODIFIER|TTLL3|TTLL3|transcript|NR_037162.1|pseudogene|11/11|n.3107G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=596;p3_1000G_AF=0.11901;p3_1000G_AFR_AF=0.211;p3_1000G_AMR_AF=0.1009;p3_1000G_AN=5008;p3_1000G_DP=18562;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.1183;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9876987;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0726;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=719,3011;ESP6500_AA_GTC=59,601,1205;ESP6500_CDS_SIZES=NM_001198793.1:1878,NM_001025930.3:2748;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=56;ESP6500_EA_AC=1277,6927;ESP6500_EA_GTC=107,1063,2932;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001198793.1:utr-3,NM_001025930.3:coding-synonymous;ESP6500_GL=TTLL3,ARPC4-TTLL3;ESP6500_GRCh38_POSITION=3:9835303;ESP6500_GTC=166,1664,4137;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001198793.1:c.*482G>A,NM_001025930.3:c.2562G>A;ESP6500_HGVS_PROTEIN_VAR=.,NM_001025930.3:p.(R854);ESP6500_MAF=15.5656,19.2761,16.7253;ESP6500_TAC=1996,9938	GT:AD:DP:GQ:PL	0/1:15,7:22:99:145,0,431
chr3	9843338	rs3846165	T	C	715.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.31;SOR=5.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3846165;dbSNPBuildID=108;ANN=C|intron_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_173659.3|protein_coding|2/8|c.262+127A>G||||||,C|intron_variant|MODIFIER|RPUSD3|RPUSD3|transcript|NM_001142547.1|protein_coding|2/7|c.262+127A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.928;p3_1000G_AN=5008;p3_1000G_DP=17773;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.9344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9885022;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:744,51,0
chr3	9854667	rs279563	A	G	920.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.75;SOR=1.46;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs279563;dbSNPBuildID=79;ANN=G|intergenic_region|MODIFIER|RPUSD3-CIDEC|RPUSD3-CIDEC|intergenic_region|RPUSD3-CIDEC|||n.9854667A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5005;p3_1000G_AF=0.999401;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=18700;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9896351;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:949,87,0
chr3	9878357	rs56111543	A	T	319.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.316;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.55;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.153;SOR=0.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56111543;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001199623.1|protein_coding|2/5|c.92+77T>A||||||,T|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_022094.3|protein_coding|2/5|c.53+77T>A||||||,T|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001199551.1|protein_coding|2/6|c.53+77T>A||||||,T|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001199552.1|protein_coding|2/5|c.53+77T>A||||||,T|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001321142.1|protein_coding|3/6|c.53+77T>A||||||,T|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001321143.1|protein_coding|3/5|c.-16+77T>A||||||,T|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001321144.1|protein_coding|2/4|c.-16+77T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=500;p3_1000G_AF=0.0998403;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=20018;p3_1000G_EAS_AF=0.0456;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9920041;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,15:30:99:348,0,377
chr3	9878454	rs17851444;128772	G	C	522.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.145;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.52;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17851444;dbSNPBuildID=123;ANN=C|synonymous_variant|LOW|CIDEC|CIDEC|transcript|NM_001199623.1|protein_coding|2/6|c.72C>G|p.Leu24Leu|92/1200|72/756|24/251||,C|synonymous_variant|LOW|CIDEC|CIDEC|transcript|NM_022094.3|protein_coding|2/6|c.33C>G|p.Leu11Leu|173/1281|33/717|11/238||,C|synonymous_variant|LOW|CIDEC|CIDEC|transcript|NM_001199551.1|protein_coding|2/7|c.33C>G|p.Leu11Leu|89/1227|33/747|11/248||,C|synonymous_variant|LOW|CIDEC|CIDEC|transcript|NM_001199552.1|protein_coding|2/6|c.33C>G|p.Leu11Leu|89/1197|33/717|11/238||,C|synonymous_variant|LOW|CIDEC|CIDEC|transcript|NM_001321142.1|protein_coding|3/7|c.33C>G|p.Leu11Leu|202/1310|33/717|11/238||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CIDEC|CIDEC|transcript|NM_001321143.1|protein_coding|3/6|c.-36C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|CIDEC|CIDEC|transcript|NM_001321144.1|protein_coding|2/5|c.-36C>G||||||,C|5_prime_UTR_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001321143.1|protein_coding|3/6|c.-36C>G|||||8147|,C|5_prime_UTR_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001321144.1|protein_coding|2/5|c.-36C>G|||||8147|;p3_1000G_AA=G|||;p3_1000G_AC=426;p3_1000G_AF=0.0850639;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=21255;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.1292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9920138;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=242,4164;ESP6500_AA_AGE=141.9+/-177.2;ESP6500_AA_GTC=10,222,1971;ESP6500_CDS_SIZES=NM_022094.3:717,NM_001199623.1:756,NM_001199552.1:717,NM_001199551.1:747;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=154;ESP6500_EA_AC=1135,7465;ESP6500_EA_AGE=233.3+/-266.6;ESP6500_EA_GTC=78,979,3243;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022094.3:coding-synonymous,NM_001199623.1:coding-synonymous,NM_001199552.1:coding-synonymous,NM_001199551.1:coding-synonymous;ESP6500_GL=CIDEC;ESP6500_GRCh38_POSITION=3:9878454;ESP6500_GTC=88,1201,5214;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_022094.3:c.33C>G,NM_001199623.1:c.72C>G,NM_001199552.1:c.33C>G,NM_001199551.1:c.33C>G;ESP6500_HGVS_PROTEIN_VAR=NM_022094.3:p.(L11),NM_001199623.1:p.(L24),NM_001199552.1:p.(L11),NM_001199551.1:p.(L11);ESP6500_MAF=13.1977,5.4925,10.5874;ESP6500_TAC=1377,11629;CLINVAR_AF_ESP=0.1059;CLINVAR_AF_EXAC=0.11314;CLINVAR_AF_TGP=0.0851;CLINVAR_ALLELEID=134221;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.9878454G>C;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CIDEC:63924;CLINVAR_MC=SO:0001623|5_prime_UTR_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=17851444	GT:AD:DP:GQ:PL	0/1:20,20:40:99:551,0,549
chr3	9878563	rs62247501	C	A	182.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.817;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=1.74;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62247501;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001199623.1|protein_coding|1/5|c.15-52G>T||||||,A|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_022094.3|protein_coding|1/5|c.-25-52G>T||||||,A|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001199551.1|protein_coding|1/6|c.-25-52G>T||||||,A|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001199552.1|protein_coding|1/5|c.-25-52G>T||||||,A|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001321142.1|protein_coding|2/6|c.-25-52G>T||||||,A|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001321143.1|protein_coding|2/5|c.-93-52G>T||||||,A|intron_variant|MODIFIER|CIDEC|CIDEC|transcript|NM_001321144.1|protein_coding|1/4|c.-93-52G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=398;p3_1000G_AF=0.0794728;p3_1000G_AFR_AF=0.0272;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=21242;p3_1000G_EAS_AF=0.0437;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9920247;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:211,0,450
chr3	9890653	rs279558	G	C	256.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.736;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.762;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs279558;dbSNPBuildID=79;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|JAGN1|JAGN1|transcript|NM_032492.3|protein_coding|1/2|c.-70G>C||||||,C|5_prime_UTR_variant|MODIFIER|JAGN1|JAGN1|transcript|NM_032492.3|protein_coding|1/2|c.-70G>C|||||70|;p3_1000G_AA=G|||;p3_1000G_AC=3121;p3_1000G_AF=0.623203;p3_1000G_AFR_AF=0.4614;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=11718;p3_1000G_EAS_AF=0.7093;p3_1000G_EUR_AF=0.6909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9932337;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:285,0,287
chr3	9892921	rs279553	T	C	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.152;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=8.86;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.09;SOR=0.098;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs279553;dbSNPBuildID=79;ANN=C|synonymous_variant|LOW|JAGN1|JAGN1|transcript|NM_032492.3|protein_coding|2/2|c.96T>C|p.Thr32Thr|232/1658|96/552|32/183||;p3_1000G_AA=C|||;p3_1000G_AC=3444;p3_1000G_AF=0.6877;p3_1000G_AFR_AF=0.6808;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=21580;p3_1000G_EAS_AF=0.7212;p3_1000G_EUR_AF=0.7058;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9934605;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3023,1383;ESP6500_AA_AGE=457.1+/-351.5;ESP6500_AA_GTC=1046,931,226;ESP6500_CDS_SIZES=NM_032492.3:552;ESP6500_CG=2.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=85;ESP6500_EA_AC=5921,2679;ESP6500_EA_AGE=430.2+/-356.4;ESP6500_EA_GTC=2045,1831,424;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032492.3:coding-synonymous;ESP6500_GL=JAGN1;ESP6500_GRCh38_POSITION=3:9892921;ESP6500_GTC=3091,2762,650;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_032492.3:c.96T>C;ESP6500_HGVS_PROTEIN_VAR=NM_032492.3:p.(T32);ESP6500_MAF=31.1512,31.389,31.2317;ESP6500_TAC=8944,4062	GT:AD:DP:GQ:PL	0/1:21,20:41:99:532,0,679
chr3	9902483	rs279589	G	A	71.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.268;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.92;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=-0.654;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs279589;dbSNPBuildID=79;ANN=A|upstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding||c.-133G>A|||||129|,A|upstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding||c.-450G>A|||||345|,A|upstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding||c.-450G>A|||||345|,A|upstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding||c.-3961G>A|||||345|,A|upstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene||n.-345G>A|||||345|,A|intergenic_region|MODIFIER|JAGN1-IL17RE|JAGN1-IL17RE|intergenic_region|JAGN1-IL17RE|||n.9902483G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1437;p3_1000G_AF=0.286941;p3_1000G_AFR_AF=0.3956;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=20625;p3_1000G_EAS_AF=0.0784;p3_1000G_EUR_AF=0.3648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9944167;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2321;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:100,0,270
chr3	9903253	rs279588	G	T	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.793;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=1.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=1.39;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs279588;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding|2/16|c.253-144G>T||||||,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding|1/15|c.133-144G>T||||||,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding|1/15|c.133-144G>T||||||,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding|1/13|c.-81+189G>T||||||,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene|1/14|n.237+189G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1998;p3_1000G_AF=0.398962;p3_1000G_AFR_AF=0.4667;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=20523;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.5507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9944937;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,11:25:99:231,0,450
chr3	9909373	rs145116761	A	C	411.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.24;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.114;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-0.27;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145116761;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding|9/16|c.922+90A>C||||||,C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding|8/15|c.802+90A>C||||||,C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding|8/15|c.802+90A>C||||||,C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding|6/13|c.454+90A>C||||||,C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene|7/14|n.891+90A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=247;p3_1000G_AF=0.0493211;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=19961;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9951057;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,14:24:99:440,0,258
chr3	9911022	rs279572	A	G	764.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.282;SOR=0.688;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs279572;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding|10/17|c.1080A>G|p.Thr360Thr|1084/2721|1080/2124|360/707||,G|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding|9/16|c.960A>G|p.Thr320Thr|1065/2775|960/1602|320/533||,G|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding|9/16|c.960A>G|p.Thr320Thr|1065/2702|960/2004|320/667||,G|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding|7/14|c.612A>G|p.Thr204Thr|929/2566|612/1656|204/551||,G|non_coding_transcript_exon_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene|8/15|n.1049A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2138;p3_1000G_AF=0.426917;p3_1000G_AFR_AF=0.6384;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=17881;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.5527;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9952706;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2733,1673;ESP6500_AA_AGE=509.6+/-367.3;ESP6500_AA_GTC=863,1007,333;ESP6500_CDS_SIZES=NM_153483.2:2124,NM_153480.1:2004,NM_001193380.1:1602;ESP6500_CG=-6.6;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=59;ESP6500_EA_AC=4624,3976;ESP6500_EA_AGE=552.1+/-386.1;ESP6500_EA_GTC=1229,2166,905;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153483.2:coding-synonymous,NM_153480.1:coding-synonymous,NM_001193380.1:coding-synonymous;ESP6500_GL=IL17RE;ESP6500_GRCh38_POSITION=3:9911022;ESP6500_GTC=2092,3173,1238;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153483.2:c.1080A>G,NM_153480.1:c.960A>G,NM_001193380.1:c.960A>G;ESP6500_HGVS_PROTEIN_VAR=NM_153483.2:p.(T360),NM_153480.1:p.(T320),NM_001193380.1:p.(T320);ESP6500_MAF=46.2326,37.9709,43.4338;ESP6500_TAC=7357,5649	GT:AD:DP:GQ:PL	0/1:48,32:80:99:793,0,1188
chr3	9911104	rs279571	T	C	616.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.14;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=2.22;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs279571;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding|10/16|c.1099-23T>C||||||,C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding|9/15|c.979-23T>C||||||,C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding|9/15|c.979-23T>C||||||,C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding|7/13|c.631-23T>C||||||,C|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene|8/14|n.1068-23T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2223;p3_1000G_AF=0.44389;p3_1000G_AFR_AF=0.6528;p3_1000G_AMR_AF=0.4827;p3_1000G_AN=5008;p3_1000G_DP=17471;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.5487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9952788;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3845;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2791,1615;ESP6500_AA_AGE=500.3+/-364.7;ESP6500_AA_GTC=902,987,314;ESP6500_CDS_SIZES=NM_153483.2:2124,NM_153480.1:2004,NM_001193380.1:1602;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=91;ESP6500_EA_AC=4611,3989;ESP6500_EA_AGE=553.6+/-386.3;ESP6500_EA_GTC=1227,2157,916;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153483.2:intron,NM_153480.1:intron,NM_001193380.1:intron;ESP6500_GL=IL17RE;ESP6500_GRCh38_POSITION=3:9911104;ESP6500_GTC=2129,3144,1230;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153483.2:c.1099-23T>C,NM_153480.1:c.979-23T>C,NM_001193380.1:c.979-23T>C;ESP6500_MAF=46.3837,36.6546,43.0878;ESP6500_TAC=7402,5604	GT:AD:DP:GQ:PL	0/1:43,26:69:99:645,0,1078
chr3	9914595	rs455863	G	A	324.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.63;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.25;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=1.79;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs455863;dbSNPBuildID=80;ANN=A|missense_variant|MODERATE|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding|14/16|c.1417G>A|p.Gly473Arg|1522/2775|1417/1602|473/533||,A|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding|15/17|c.1464G>A|p.Pro488Pro|1468/2721|1464/2124|488/707||,A|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding|14/16|c.1344G>A|p.Pro448Pro|1449/2702|1344/2004|448/667||,A|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding|12/14|c.996G>A|p.Pro332Pro|1313/2566|996/1656|332/551||,A|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding||c.-2721G>A|||||2503|,A|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding||c.-2721G>A|||||2479|,A|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding||c.-2721G>A|||||2479|,A|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding||c.-2721G>A|||||2479|,A|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding||c.-2721G>A|||||2479|,A|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding||c.-2721G>A|||||2479|,A|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene||n.-2479G>A|||||2479|,A|non_coding_transcript_exon_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene|13/15|n.1579G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1813;p3_1000G_AF=0.362021;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=19167;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.5447;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9956279;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1829,2577;ESP6500_AA_AGE=533.4+/-373.7;ESP6500_AA_GTC=391,1047,765;ESP6500_CDS_SIZES=NM_153483.2:2124,NM_153480.1:2004,NM_001193380.1:1602;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=122;ESP6500_EA_AC=4579,4021;ESP6500_EA_AGE=597.6+/-393.8;ESP6500_EA_GTC=1205,2169,926;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153483.2:coding-synonymous,NM_153480.1:coding-synonymous,NM_001193380.1:missense;ESP6500_GL=IL17RE;ESP6500_GRCh38_POSITION=3:9914595;ESP6500_GS=.,.,125;ESP6500_GTC=1596,3216,1691;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153483.2:c.1464G>A,NM_153480.1:c.1344G>A,NM_001193380.1:c.1417G>A;ESP6500_HGVS_PROTEIN_VAR=NM_153483.2:p.(P488),NM_153480.1:p.(P448),NM_001193380.1:p.(G473R);ESP6500_MAF=46.7558,41.5116,49.2696;ESP6500_PH=.,.,benign:0.0;ESP6500_TAC=6408,6598	GT:AD:DP:GQ:PL	0/1:28,14:42:99:353,0,707
chr3	9915210	rs693802	C	T	268.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.775;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=3.041;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.67;ReadPosRankSum=0.096;SOR=0.116;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs693802;dbSNPBuildID=83;ANN=T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding||c.-2106C>T|||||1888|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding||c.-2106C>T|||||1864|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding||c.-2106C>T|||||1864|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding||c.-2106C>T|||||1864|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding||c.-2106C>T|||||1864|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding||c.-2106C>T|||||1864|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene||n.-1864C>T|||||1864|,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding|16/16|c.1568-41C>T||||||,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding|15/15|c.1521-41C>T||||||,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding|15/15|c.1448-41C>T||||||,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding|13/13|c.1100-41C>T||||||,T|intron_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene|14/14|n.1683-41C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1875;p3_1000G_AF=0.374401;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=10782;p3_1000G_EAS_AF=0.0942;p3_1000G_EUR_AF=0.5437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9956894;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1178,2126;ESP6500_AA_GTC=267,644,741;ESP6500_CDS_SIZES=NM_153483.2:2124,NM_153480.1:2004,NM_001193380.1:1602;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=3;ESP6500_EA_AC=2909,3641;ESP6500_EA_GTC=751,1407,1117;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153483.2:intron,NM_153480.1:intron,NM_001193380.1:intron;ESP6500_GL=IL17RE;ESP6500_GRCh38_POSITION=3:9915210;ESP6500_GTC=1018,2051,1858;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153483.2:c.1568-41C>T,NM_153480.1:c.1448-41C>T,NM_001193380.1:c.1521-41C>T;ESP6500_MAF=44.4122,35.6538,41.4755;ESP6500_TAC=4087,5767	GT:AD:DP:GQ:PL	0/1:3,10:13:81:297,0,81
chr3	9915771	rs1056286	C	T	607.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.381;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=1.4;SOR=0.798;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1056286;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding|17/17|c.2088C>T|p.Leu696Leu|2092/2721|2088/2124|696/707||,T|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding|16/16|c.1968C>T|p.Leu656Leu|2073/2702|1968/2004|656/667||,T|synonymous_variant|LOW|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding|14/14|c.1620C>T|p.Leu540Leu|1937/2566|1620/1656|540/551||,T|3_prime_UTR_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding|16/16|c.*439C>T|||||439|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding||c.-1545C>T|||||1327|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding||c.-1545C>T|||||1303|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding||c.-1545C>T|||||1303|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding||c.-1545C>T|||||1303|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding||c.-1545C>T|||||1303|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding||c.-1545C>T|||||1303|,T|upstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene||n.-1303C>T|||||1303|,T|non_coding_transcript_exon_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene|15/15|n.2203C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1701;p3_1000G_AF=0.339657;p3_1000G_AFR_AF=0.382;p3_1000G_AMR_AF=0.438;p3_1000G_AN=5008;p3_1000G_DP=10499;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.4911;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9957455;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3108;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1048,1948;ESP6500_AA_GTC=211,626,661;ESP6500_CDS_SIZES=NM_153483.2:2124,NM_153480.1:2004,NM_001193380.1:1602;ESP6500_CG=0.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=9;ESP6500_EA_AC=2637,3337;ESP6500_EA_GTC=623,1391,973;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153483.2:coding-synonymous,NM_153480.1:coding-synonymous,NM_001193380.1:utr-3;ESP6500_GL=IL17RE;ESP6500_GRCh38_POSITION=3:9915771;ESP6500_GTC=834,2017,1634;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153483.2:c.2088C>T,NM_153480.1:c.1968C>T,NM_001193380.1:c.*439C>T;ESP6500_HGVS_PROTEIN_VAR=NM_153483.2:p.(L696),NM_153480.1:p.(L656),.;ESP6500_MAF=44.1413,34.98,41.0814;ESP6500_TAC=3685,5285	GT:AD:DP:GQ:PL	0/1:31,28:59:99:636,0,825
chr3	9917263	rs530330109	T	TG	374.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.98;SOR=1.911;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs34605147;dbSNPBuildID=142;ANN=TG|5_prime_UTR_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|1/19|c.-44dupG|||||43|INFO_REALIGN_3_PRIME,TG|5_prime_UTR_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|1/18|c.-44dupG|||||43|INFO_REALIGN_3_PRIME,TG|5_prime_UTR_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|1/17|c.-44dupG|||||43|INFO_REALIGN_3_PRIME,TG|5_prime_UTR_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|1/17|c.-44dupG|||||43|INFO_REALIGN_3_PRIME,TG|5_prime_UTR_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|1/18|c.-44dupG|||||43|INFO_REALIGN_3_PRIME,TG|5_prime_UTR_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|1/19|c.-44dupG|||||43|INFO_REALIGN_3_PRIME,TG|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding||c.*1456_*1457insG|||||864|,TG|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding||c.*1931_*1932insG|||||864|,TG|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding||c.*1456_*1457insG|||||864|,TG|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding||c.*1456_*1457insG|||||864|,TG|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene||n.*863_*864insG|||||864|,TG|non_coding_transcript_exon_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|1/17|n.199dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1688;p3_1000G_AF=0.337061;p3_1000G_AFR_AF=0.5582;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=15854;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.3211;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9958947;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3395;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:412,45,0
chr3	9918386	rs708567	C	T	618.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.683;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.426;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.175;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs708567;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|4/19|c.545C>T|p.Ser182Leu|763/2622|545/2376|182/791||,T|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|4/18|c.332C>T|p.Ser111Leu|574/2394|332/2124|111/707||,T|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|4/17|c.332C>T|p.Ser111Leu|574/2343|332/2073|111/690||,T|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|4/17|c.332C>T|p.Ser111Leu|574/2337|332/2067|111/688||,T|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|4/18|c.332C>T|p.Ser111Leu|574/2388|332/2118|111/705||,T|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|4/19|c.332C>T|p.Ser111Leu|574/2433|332/2163|111/720||,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding||c.*2579C>T|||||1986|,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding||c.*3054C>T|||||1986|,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding||c.*2579C>T|||||1986|,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding||c.*2579C>T|||||1986|,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene||n.*1986C>T|||||1986|,T|non_coding_transcript_exon_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|4/17|n.574C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1938;p3_1000G_AF=0.386981;p3_1000G_AFR_AF=0.4955;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=17282;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.5437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9960070;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3241;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2150,2254;ESP6500_AA_AGE=558.2+/-379.9;ESP6500_AA_GTC=533,1084,585;ESP6500_CDS_SIZES=NM_153461.3:2376,NM_153460.3:2163,NM_032732.5:2118,NM_001203265.1:2067,NM_001203264.1:2073,NM_001203263.1:2124;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=64;ESP6500_EA_AC=4574,4026;ESP6500_EA_AGE=572.6+/-389.7;ESP6500_EA_GTC=1199,2176,925;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153461.3:missense,NM_153460.3:missense,NM_032732.5:missense,NM_001203265.1:missense,NM_001203264.1:missense,NM_001203263.1:missense;ESP6500_GL=IL17RC;ESP6500_GRCh38_POSITION=3:9918386;ESP6500_GS=145,145,145,145,145,145;ESP6500_GTC=1732,3260,1510;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153461.3:c.545C>T,NM_153460.3:c.332C>T,NM_032732.5:c.332C>T,NM_001203265.1:c.332C>T,NM_001203264.1:c.332C>T,NM_001203263.1:c.332C>T;ESP6500_HGVS_PROTEIN_VAR=NM_153461.3:p.(S182L),NM_153460.3:p.(S111L),NM_032732.5:p.(S111L),NM_001203265.1:p.(S111L),NM_001203264.1:p.(S111L),NM_001203263.1:p.(S111L);ESP6500_MAF=46.814,48.8193,48.2928;ESP6500_PH=benign:0.094,benign:0.094,benign:0.094,benign:0.094,benign:0.094,benign:0.094;ESP6500_TAC=6724,6280	GT:AD:DP:GQ:PL	0/1:18,24:42:99:647,0,534
chr3	9920473	rs783494	T	C	1556.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.83;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs783494;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding||c.*4666T>C|||||4073|,C|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding||c.*5141T>C|||||4073|,C|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding||c.*4666T>C|||||4073|,C|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding||c.*4666T>C|||||4073|,C|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene||n.*4073T>C|||||4073|,C|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|5/18|c.679-18T>C||||||,C|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|5/17|c.466-18T>C||||||,C|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|5/16|c.466-18T>C||||||,C|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|5/16|c.466-18T>C||||||,C|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|5/17|c.466-18T>C||||||,C|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|5/18|c.466-18T>C||||||,C|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|5/16|n.708-18T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2079;p3_1000G_AF=0.415136;p3_1000G_AFR_AF=0.553;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=17628;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9962157;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2360,2042;ESP6500_AA_GTC=640,1080,481;ESP6500_CDS_SIZES=NM_153461.3:2376,NM_153460.3:2163,NM_032732.5:2118,NM_001203265.1:2067,NM_001203264.1:2073,NM_001203263.1:2124;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=33;ESP6500_EA_AC=4707,3887;ESP6500_EA_GTC=1281,2145,871;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153461.3:intron,NM_153460.3:intron,NM_032732.5:intron,NM_001203265.1:intron,NM_001203264.1:intron,NM_001203263.1:intron;ESP6500_GL=IL17RC;ESP6500_GRCh38_POSITION=3:9920473;ESP6500_GTC=1921,3225,1352;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_153461.3:c.679-18T>C,NM_153460.3:c.466-18T>C,NM_032732.5:c.466-18T>C,NM_001203265.1:c.466-18T>C,NM_001203264.1:c.466-18T>C,NM_001203263.1:c.466-18T>C;ESP6500_MAF=45.2292,46.388,45.6217;ESP6500_TAC=7067,5929	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1585,162,0
chr3	9921083	rs34198416;rs55889598;rs796199218	TATTC	T	673.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=0.941;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs55889598,rs34198416;dbSNPBuildID=126,130,146;ANN=T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153483.2|protein_coding||c.*5277_*5280delATTC|||||4684|,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_001193380.1|protein_coding||c.*5752_*5755delATTC|||||4684|,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153480.1|protein_coding||c.*5277_*5280delATTC|||||4684|,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NM_153481.1|protein_coding||c.*5277_*5280delATTC|||||4684|,T|downstream_gene_variant|MODIFIER|IL17RE|IL17RE|transcript|NR_104198.1|pseudogene||n.*4684_*4687delATTC|||||4684|,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|7/18|c.835+138_835+141delCATT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|7/17|c.622+138_622+141delCATT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|7/16|c.622+138_622+141delCATT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|6/16|c.577+505_577+508delCATT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|6/17|c.577+505_577+508delCATT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|7/18|c.622+138_622+141delCATT||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|6/16|n.819+505_819+508delCATT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,16:16:49:711,49,0
chr3	9928117	rs76234423	G	A	768.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.03;SOR=2.124;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs76234423;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|9/18|c.1036-49G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|9/17|c.823-49G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|9/16|c.823-49G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|8/16|c.778-49G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|8/17|c.778-49G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|9/18|c.823-49G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|7/16|n.1231-49G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=558;p3_1000G_AF=0.111422;p3_1000G_AFR_AF=0.1914;p3_1000G_AMR_AF=0.098;p3_1000G_AN=5008;p3_1000G_DP=16709;p3_1000G_EAS_AF=0.0655;p3_1000G_EUR_AF=0.0656;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9969801;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=720,3686;ESP6500_AA_AGE=298.4+/-285.3;ESP6500_AA_GTC=58,604,1541;ESP6500_CDS_SIZES=NM_153461.3:2376,NM_153460.3:2163,NM_032732.5:2118,NM_001203265.1:2067,NM_001203264.1:2073,NM_001203263.1:2124;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=81;ESP6500_EA_AC=470,8130;ESP6500_EA_AGE=139.4+/-196.0;ESP6500_EA_GTC=10,450,3840;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153461.3:intron,NM_153460.3:intron,NM_032732.5:intron,NM_001203265.1:intron,NM_001203264.1:intron,NM_001203263.1:intron;ESP6500_GL=IL17RC;ESP6500_GRCh38_POSITION=3:9928117;ESP6500_GTC=68,1054,5381;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_153461.3:c.1036-49G>A,NM_153460.3:c.823-49G>A,NM_032732.5:c.778-49G>A,NM_001203265.1:c.778-49G>A,NM_001203264.1:c.823-49G>A,NM_001203263.1:c.823-49G>A;ESP6500_MAF=5.4651,16.3414,9.1496;ESP6500_TAC=1190,11816	GT:AD:DP:GQ:PL	1/1:0,24:24:72:797,72,0
chr3	9928227	rs11917994	C	T	612.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.027;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.499;SOR=0.848;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11917994;dbSNPBuildID=120;ANN=T|splice_region_variant&intron_variant|LOW|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|10/18|c.1090+7C>T||||||,T|splice_region_variant&intron_variant|LOW|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|10/17|c.877+7C>T||||||,T|splice_region_variant&intron_variant|LOW|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|10/16|c.877+7C>T||||||,T|splice_region_variant&intron_variant|LOW|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|9/16|c.832+7C>T||||||,T|splice_region_variant&intron_variant|LOW|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|9/17|c.832+7C>T||||||,T|splice_region_variant&intron_variant|LOW|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|10/18|c.877+7C>T||||||,T|splice_region_variant&intron_variant|LOW|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|8/16|n.1285+7C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=679;p3_1000G_AF=0.135583;p3_1000G_AFR_AF=0.326;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=15814;p3_1000G_EAS_AF=0.0506;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9969911;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1237;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1199,3207;ESP6500_AA_AGE=710.0+/-407.8;ESP6500_AA_GTC=166,867,1170;ESP6500_CDS_SIZES=NM_153461.3:2376,NM_153460.3:2163,NM_032732.5:2118,NM_001203265.1:2067,NM_001203264.1:2073,NM_001203263.1:2124;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=84;ESP6500_EA_AC=111,8489;ESP6500_EA_AGE=814.6+/-407.0;ESP6500_EA_GTC=0,111,4189;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153461.3:intron,NM_153460.3:intron,NM_032732.5:intron,NM_001203265.1:intron,NM_001203264.1:intron,NM_001203263.1:intron;ESP6500_GL=IL17RC;ESP6500_GRCh38_POSITION=3:9928227;ESP6500_GTC=166,978,5359;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_153461.3:c.1090+7C>T,NM_153460.3:c.877+7C>T,NM_032732.5:c.832+7C>T,NM_001203265.1:c.832+7C>T,NM_001203264.1:c.877+7C>T,NM_001203263.1:c.877+7C>T;ESP6500_MAF=1.2907,27.2129,10.0723;ESP6500_TAC=1310,11696	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,23:54:99:0|1:9928227_C_T:641,0,838
chr3	9928248	rs57179462;rs796112538;rs35444385	TGG	T	2607.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=58;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=1.609;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs57179462;dbSNPBuildID=130,146;ANN=T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|10/18|c.1090+31_1090+32delGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|10/17|c.877+31_877+32delGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|10/16|c.877+31_877+32delGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|9/16|c.832+31_832+32delGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|9/17|c.832+31_832+32delGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|10/18|c.877+31_877+32delGG||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|8/16|n.1285+31_1285+32delGG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3094;p3_1000G_AF=0.617812;p3_1000G_AFR_AF=0.6952;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=15967;p3_1000G_EAS_AF=0.9236;p3_1000G_EUR_AF=0.327;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9969932;p3_1000G_GRCH37_REF=TGG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5297;p3_1000G_VT=INDEL;ESP6500_AA_AC=2775,0,1491;ESP6500_AA_GTC=908,0,959,0,0,266;ESP6500_CDS_SIZES=NM_153461.3:2376,NM_153461.3:2376,NM_153460.3:2163,NM_153460.3:2163,NM_032732.5:2118,NM_032732.5:2118,NM_001203265.1:2067,NM_001203265.1:2067,NM_001203264.1:2073,NM_001203264.1:2073,NM_001203263.1:2124,NM_001203263.1:2124;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=71;ESP6500_EA_AC=2826,2,5426;ESP6500_EA_GTC=465,0,1896,1,0,1765;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153461.3:intron,NM_153461.3:intron,NM_153460.3:intron,NM_153460.3:intron,NM_032732.5:intron,NM_032732.5:intron,NM_001203265.1:intron,NM_001203265.1:intron,NM_001203264.1:intron,NM_001203264.1:intron,NM_001203263.1:intron,NM_001203263.1:intron;ESP6500_GL=IL17RC;ESP6500_GRCh38_POSITION=3:9928248;ESP6500_GTC=1373,0,2855,1,0,2031;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_153461.3:c.1090+29del1,NM_153461.3:c.1090+29_1090+30del2,NM_153460.3:c.877+29del1,NM_153460.3:c.877+29_877+30del2,NM_032732.5:c.832+29del1,NM_032732.5:c.832+29_832+30del2,NM_001203265.1:c.832+29del1,NM_001203265.1:c.832+29_832+30del2,NM_001203264.1:c.877+29del1,NM_001203264.1:c.877+29_877+30del2,NM_001203263.1:c.877+29del1,NM_001203263.1:c.877+29_877+30del2;ESP6500_MAF=34.2622,34.9508,44.7524;ESP6500_TAC=5601,2,6917	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,58:58:99:1|1:9928227_C_T:2645,178,0
chr3	9928347	rs279549	A	G	2741.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=92;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.8;SOR=0.782;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs279549;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|11/19|c.1133A>G|p.Gln378Arg|1351/2622|1133/2376|378/791||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|11/18|c.920A>G|p.Gln307Arg|1162/2394|920/2124|307/707||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|11/17|c.920A>G|p.Gln307Arg|1162/2343|920/2073|307/690||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|10/17|c.875A>G|p.Gln292Arg|1117/2337|875/2067|292/688||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|10/18|c.875A>G|p.Gln292Arg|1117/2388|875/2118|292/705||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|11/19|c.920A>G|p.Gln307Arg|1162/2433|920/2163|307/720||,G|non_coding_transcript_exon_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|9/17|n.1328A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4995;p3_1000G_AF=0.997404;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=15847;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9881;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9970031;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4401,5;ESP6500_AA_AGE=11.4+/-27.6;ESP6500_AA_GTC=2198,5,0;ESP6500_CDS_SIZES=NM_153461.3:2376,NM_153460.3:2163,NM_032732.5:2118,NM_001203265.1:2067,NM_001203264.1:2073,NM_001203263.1:2124;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=40;ESP6500_EA_AC=8543,55;ESP6500_EA_AGE=31.2+/-83.2;ESP6500_EA_GTC=4244,55,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_153461.3:missense,NM_153460.3:missense,NM_032732.5:missense,NM_001203265.1:missense,NM_001203264.1:missense,NM_001203263.1:missense;ESP6500_GL=IL17RC;ESP6500_GRCh38_POSITION=3:9928347;ESP6500_GS=43,43,43,43,43,43;ESP6500_GTC=6442,60,0;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_153461.3:c.1133A>G,NM_153460.3:c.920A>G,NM_032732.5:c.875A>G,NM_001203265.1:c.875A>G,NM_001203264.1:c.920A>G,NM_001203263.1:c.920A>G;ESP6500_HGVS_PROTEIN_VAR=NM_153461.3:p.(Q378R),NM_153460.3:p.(Q307R),NM_032732.5:p.(Q292R),NM_001203265.1:p.(Q292R),NM_001203264.1:p.(Q307R),NM_001203263.1:p.(Q307R);ESP6500_MAF=0.6397,0.1135,0.4614;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12944,60	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2770,276,0
chr3	9930809	rs279545	G	A	1861.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=2.041;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs279545;dbSNPBuildID=79;ANN=A|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001031717.3|protein_coding||c.-3630G>A|||||3032|,A|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_015513.4|protein_coding||c.-3630G>A|||||3031|,A|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001077415.2|protein_coding||c.-3630G>A|||||3032|,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|15/18|c.1552-86G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|15/17|c.1339-86G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|14/16|c.1288-86G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|13/16|c.1243-86G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|14/17|c.1294-86G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|15/18|c.1339-86G>A||||||,A|intron_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|13/16|n.1747-86G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3116;p3_1000G_AF=0.622204;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=20390;p3_1000G_EAS_AF=0.8462;p3_1000G_EUR_AF=0.8091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9972493;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1890,177,0
chr3	9933090	rs200293928	C	G	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.664;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.69;ReadPosRankSum=-1.697;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200293928;dbSNPBuildID=137;ANN=G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|19/19|c.1873C>G|p.Leu625Val|2091/2622|1873/2376|625/791||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|18/18|c.1621C>G|p.Leu541Val|1863/2394|1621/2124|541/707||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|17/17|c.1570C>G|p.Leu524Val|1812/2343|1570/2073|524/690||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|17/17|c.1564C>G|p.Leu522Val|1806/2337|1564/2067|522/688||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|18/18|c.1615C>G|p.Leu539Val|1857/2388|1615/2118|539/705||,G|missense_variant|MODERATE|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|19/19|c.1660C>G|p.Leu554Val|1902/2433|1660/2163|554/720||,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001031717.3|protein_coding||c.-1349C>G|||||751|,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_015513.4|protein_coding||c.-1349C>G|||||750|,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001077415.2|protein_coding||c.-1349C>G|||||751|,G|non_coding_transcript_exon_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|17/17|n.2068C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=16;p3_1000G_AF=0.00319489;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=13364;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9974774;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,10:33:99:249,0,698
chr3	9933563	rs183956	C	G	405.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs183956;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding|19/19|c.2346C>G|p.Gly782Gly|2564/2622|2346/2376|782/791||,G|synonymous_variant|LOW|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding|18/18|c.2094C>G|p.Gly698Gly|2336/2394|2094/2124|698/707||,G|synonymous_variant|LOW|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding|17/17|c.2043C>G|p.Gly681Gly|2285/2343|2043/2073|681/690||,G|synonymous_variant|LOW|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding|17/17|c.2037C>G|p.Gly679Gly|2279/2337|2037/2067|679/688||,G|synonymous_variant|LOW|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding|18/18|c.2088C>G|p.Gly696Gly|2330/2388|2088/2118|696/705||,G|synonymous_variant|LOW|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding|19/19|c.2133C>G|p.Gly711Gly|2375/2433|2133/2163|711/720||,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001031717.3|protein_coding||c.-876C>G|||||278|,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_015513.4|protein_coding||c.-876C>G|||||277|,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001077415.2|protein_coding||c.-876C>G|||||278|,G|non_coding_transcript_exon_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene|17/17|n.2541C>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=4944;p3_1000G_AF=0.98722;p3_1000G_AFR_AF=0.9728;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=10959;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9975247;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9939;p3_1000G_VT=SNP;ESP6500_AA=-;ESP6500_AA_AC=3374,50;ESP6500_AA_GTC=1662,50,0;ESP6500_CDS_SIZES=NM_153461.3:2376,NM_153460.3:2163,NM_032732.5:2118,NM_001203265.1:2067,NM_001203264.1:2073,NM_001203263.1:2124;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=8;ESP6500_EA_AC=7458,82;ESP6500_EA_GTC=3688,82,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_153461.3:coding-synonymous,NM_153460.3:coding-synonymous,NM_032732.5:coding-synonymous,NM_001203265.1:coding-synonymous,NM_001203264.1:coding-synonymous,NM_001203263.1:coding-synonymous;ESP6500_GL=IL17RC;ESP6500_GRCh38_POSITION=3:9933563;ESP6500_GTC=5350,132,0;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_153461.3:c.2346C>G,NM_153460.3:c.2133C>G,NM_032732.5:c.2088C>G,NM_001203265.1:c.2037C>G,NM_001203264.1:c.2043C>G,NM_001203263.1:c.2094C>G;ESP6500_HGVS_PROTEIN_VAR=NM_153461.3:p.(G782),NM_153460.3:p.(G711),NM_032732.5:p.(G696),NM_001203265.1:p.(G679),NM_001203264.1:p.(G681),NM_001203263.1:p.(G698);ESP6500_MAF=1.0875,1.4603,1.2039;ESP6500_TAC=10832,132	GT:AD:DP:GQ:PL	1/1:0,13:13:39:434,39,0
chr3	9933669	rs279551	A	G	174.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs279551;dbSNPBuildID=79;ANN=G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001031717.3|protein_coding||c.-770A>G|||||172|,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_015513.4|protein_coding||c.-770A>G|||||171|,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001077415.2|protein_coding||c.-770A>G|||||172|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding||c.*76A>G|||||48|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding||c.*76A>G|||||48|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding||c.*76A>G|||||48|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding||c.*76A>G|||||48|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding||c.*76A>G|||||48|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding||c.*76A>G|||||48|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene||n.*48A>G|||||48|,G|intergenic_region|MODIFIER|IL17RC-CRELD1|IL17RC-CRELD1|intergenic_region|IL17RC-CRELD1|||n.9933669A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4995;p3_1000G_AF=0.997404;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=7993;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9881;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9975353;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:203,18,0
chr3	9933702	rs2270894	C	G	155.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.97;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2270894;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001031717.3|protein_coding||c.-737C>G|||||139|,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_015513.4|protein_coding||c.-737C>G|||||138|,G|upstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001077415.2|protein_coding||c.-737C>G|||||139|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding||c.*109C>G|||||81|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding||c.*109C>G|||||81|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding||c.*109C>G|||||81|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding||c.*109C>G|||||81|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding||c.*109C>G|||||81|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding||c.*109C>G|||||81|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene||n.*81C>G|||||81|,G|intergenic_region|MODIFIER|IL17RC-CRELD1|IL17RC-CRELD1|intergenic_region|IL17RC-CRELD1|||n.9933702C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1509;p3_1000G_AF=0.301318;p3_1000G_AFR_AF=0.0416;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=9715;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.2157;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9975386;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3497;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:184,18,0
chr3	9934475	rs279552	A	G	686.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs279552;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|CRELD1|CRELD1|transcript|NM_001031717.3|protein_coding|2/12|c.37A>G|p.Met13Val|136/2390|37/1269|13/422||,G|missense_variant|MODERATE|CRELD1|CRELD1|transcript|NM_015513.4|protein_coding|1/10|c.37A>G|p.Met13Val|636/2696|37/1263|13/420||,G|missense_variant|MODERATE|CRELD1|CRELD1|transcript|NM_001077415.2|protein_coding|2/11|c.37A>G|p.Met13Val|136/2196|37/1263|13/420||,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153461.3|protein_coding||c.*882A>G|||||854|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203263.1|protein_coding||c.*882A>G|||||854|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203264.1|protein_coding||c.*882A>G|||||854|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_001203265.1|protein_coding||c.*882A>G|||||854|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_032732.5|protein_coding||c.*882A>G|||||854|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NM_153460.3|protein_coding||c.*882A>G|||||854|,G|downstream_gene_variant|MODIFIER|IL17RC|IL17RC|transcript|NR_037807.1|pseudogene||n.*854A>G|||||854|;p3_1000G_AA=G|||;p3_1000G_AC=4986;p3_1000G_AF=0.995607;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=15870;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9831;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9976159;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9969;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4399,7;ESP6500_AA_AGE=14.3+/-33.2;ESP6500_AA_GTC=2196,7,0;ESP6500_CDS_SIZES=NM_015513.4:1263,NM_001077415.2:1263,NM_001031717.3:1269;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=62;ESP6500_EA_AC=8496,104;ESP6500_EA_AGE=56.0+/-117.1;ESP6500_EA_GTC=4197,102,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015513.4:missense,NM_001077415.2:missense,NM_001031717.3:missense;ESP6500_GL=CRELD1;ESP6500_GRCh38_POSITION=3:9934475;ESP6500_GS=21,21,21;ESP6500_GTC=6393,109,1;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015513.4:c.37A>G,NM_001077415.2:c.37A>G,NM_001031717.3:c.37A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015513.4:p.(M13V),NM_001077415.2:p.(M13V),NM_001031717.3:p.(M13V);ESP6500_MAF=1.2093,0.1589,0.8535;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=12895,111	GT:AD:DP:GQ:PL	1/1:0,22:22:66:715,66,0
chr3	9946491	rs61740128	C	T	403.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.627;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=3.976;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.186;SOR=0.862;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61740128;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|PRRT3|PRRT3|transcript|NM_207351.4|protein_coding|4/4|c.2682G>A|p.Gly894Gly|2833/3782|2682/2946|894/981||,T|upstream_gene_variant|MODIFIER|PRRT3-AS1|PRRT3-AS1|transcript|NR_046734.1|pseudogene||n.-913C>T|||||913|,T|downstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001031717.3|protein_coding||c.*2100C>T|||||1078|,T|downstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_015513.4|protein_coding||c.*1912C>T|||||1078|,T|downstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001077415.2|protein_coding||c.*1912C>T|||||1078|,T|downstream_gene_variant|MODIFIER|PRRT3|PRRT3|transcript|NM_001318871.1|protein_coding||c.*2172G>A|||||2090|,T|non_coding_transcript_exon_variant|MODIFIER|PRRT3|PRRT3|transcript|NR_134900.1|pseudogene|4/5|n.2833G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=119;p3_1000G_AF=0.023762;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=13195;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0.0437;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9988175;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=15,3439;ESP6500_AA_GTC=0,15,1712;ESP6500_CDS_SIZES=NM_207351.3:2946;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=5;ESP6500_EA_AC=184,7442;ESP6500_EA_GTC=0,184,3629;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207351.3:coding-synonymous;ESP6500_GL=PRRT3;ESP6500_GRCh38_POSITION=3:9946491;ESP6500_GTC=0,199,5341;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207351.3:c.2682G>A;ESP6500_HGVS_PROTEIN_VAR=NM_207351.3:p.(G894);ESP6500_MAF=2.4128,0.4343,1.796;ESP6500_TAC=199,10881	GT:AD:DP:GQ:PL	0/1:9,15:24:99:432,0,228
chr3	9949704	rs279601	G	C	2506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.34;SOR=0.963;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs279601;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|PRRT3|PRRT3|transcript|NM_207351.4|protein_coding|2/4|c.412C>G|p.Gln138Glu|563/3782|412/2946|138/981||,C|missense_variant|MODERATE|PRRT3|PRRT3|transcript|NM_001318871.1|protein_coding|2/3|c.412C>G|p.Gln138Glu|563/1499|412/1266|138/421||,C|downstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001031717.3|protein_coding||c.*5313G>C|||||4291|,C|downstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_015513.4|protein_coding||c.*5125G>C|||||4291|,C|downstream_gene_variant|MODIFIER|CRELD1|CRELD1|transcript|NM_001077415.2|protein_coding||c.*5125G>C|||||4291|,C|intron_variant|MODIFIER|PRRT3-AS1|PRRT3-AS1|transcript|NR_046734.1|pseudogene|3/3|n.430+1235G>C||||||,C|non_coding_transcript_exon_variant|MODIFIER|PRRT3|PRRT3|transcript|NR_134900.1|pseudogene|2/5|n.563C>G||||||;p3_1000G_AA=c|||;p3_1000G_AC=4843;p3_1000G_AF=0.967053;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9813;p3_1000G_AN=5008;p3_1000G_DP=17971;p3_1000G_EAS_AF=0.9663;p3_1000G_EUR_AF=0.9712;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=9991388;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4028,20;ESP6500_AA_GTC=2004,20,0;ESP6500_CDS_SIZES=NM_207351.3:2946;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=77;ESP6500_EA_AC=8172,222;ESP6500_EA_GTC=3978,216,3;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_207351.3:missense;ESP6500_GL=PRRT3;ESP6500_GRCh38_POSITION=3:9949704;ESP6500_GS=29;ESP6500_GTC=5982,236,3;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_207351.3:c.412C>G;ESP6500_HGVS_PROTEIN_VAR=NM_207351.3:p.(Q138E);ESP6500_MAF=2.6447,0.4941,1.945;ESP6500_PH=benign:0.0;ESP6500_TAC=12200,242	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2535,219,0
chr3	9977295	.	C	A	11.12	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.435;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.741;SOR=0.307;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|EMC3|EMC3|transcript|NM_018447.3|protein_coding|3/8|c.213+94G>T||||||	GT:AD:DP:GQ:PL	0/1:12,3:15:39:39,0,378
chr3	10043351	rs803335	G	T	693.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.04;SOR=1.828;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs803335;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|12/42|c.990-133G>T||||||,T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|12/43|c.990-133G>T||||||,T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|12/43|c.990-133G>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=4770;p3_1000G_AF=0.952476;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=21468;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10085035;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9213;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:722,63,0
chr3	10046539	rs200221245	T	G	97.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.13;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=58.86;MQRankSum=-1.737;QD=5.43;ReadPosRankSum=-1.239;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs200221245;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|14/42|c.1135-41T>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|14/43|c.1135-41T>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|14/43|c.1135-41T>G||||||	GT:AD:DP:GQ:PL	0/1:14,4:18:99:126,0,441
chr3	10046555	rs201770712	G	A	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.602;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.02;MQRankSum=-1.94;QD=4.23;ReadPosRankSum=-0.051;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201770712;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|14/42|c.1135-25G>A||||||,A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|14/43|c.1135-25G>A||||||,A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|14/43|c.1135-25G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,4:21:99:0|1:10046555_G_A:117,0,691
chr3	10046558	rs199726231	G	A	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.238;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.02;MQRankSum=-1.94;QD=4.23;ReadPosRankSum=-0.051;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs199726231;dbSNPBuildID=137;ANN=A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|14/42|c.1135-22G>A||||||,A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|14/43|c.1135-22G>A||||||,A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|14/43|c.1135-22G>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,4:21:99:0|1:10046555_G_A:117,0,691
chr3	10046582	rs72492997;342260	G	T	61.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.15;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=2.126;MLEAC=1;MLEAF=0.5;MQ=59.32;MQRankSum=-2.451;QD=2.06;ReadPosRankSum=1.94;SOR=1.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72492997;dbSNPBuildID=130;ANN=T|splice_region_variant&synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/43|c.1137G>T|p.Val379Val|1257/5246|1137/4416|379/1471||,T|splice_region_variant&synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/44|c.1137G>T|p.Val379Val|1257/5151|1137/4356|379/1451||,T|splice_region_variant&synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/44|c.1137G>T|p.Val379Val|1329/5223|1137/4356|379/1451||;CLINVAR_AF_EXAC=0.37450;CLINVAR_ALLELEID=288498;CLINVAR_CLNDISDB=MedGen:C0015625,Orphanet:ORPHA84,SNOMED_CT:30575002;CLINVAR_CLNDN=Fanconi_anemia;CLINVAR_CLNHGVS=NC_000003.12:g.10046582G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:278926;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=72492997	GT:AD:DP:GQ:PL	0/1:26,4:30:90:90,0,662
chr3	10046615	rs112887807;342261	C	T	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.55;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.998;MLEAC=1;MLEAF=0.5;MQ=55.73;MQRankSum=-2.551;QD=5.43;ReadPosRankSum=-0.085;SOR=1.539;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs112887807;dbSNPBuildID=132;ANN=T|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/43|c.1170C>T|p.Ser390Ser|1290/5246|1170/4416|390/1471||,T|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/44|c.1170C>T|p.Ser390Ser|1290/5151|1170/4356|390/1451||,T|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/44|c.1170C>T|p.Ser390Ser|1362/5223|1170/4356|390/1451||;CLINVAR_AF_EXAC=0.43038;CLINVAR_ALLELEID=291535;CLINVAR_CLNDISDB=MedGen:C0015625,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374;CLINVAR_CLNDN=Fanconi_anemia|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.10046615C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:157802|Illumina_Clinical_Services_Laboratory,Illumina:88467;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=112887807	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,7:34:99:0|1:10046615_C_T:213,0,1111
chr3	10046624	rs72492998;342262	T	C	184.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.05;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=3.921;MLEAC=1;MLEAF=0.5;MQ=55.06;MQRankSum=-2.252;QD=5.43;ReadPosRankSum=-0.362;SOR=1.583;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72492998;dbSNPBuildID=130;ANN=C|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/43|c.1179T>C|p.Thr393Thr|1299/5246|1179/4416|393/1471||,C|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/44|c.1179T>C|p.Thr393Thr|1299/5151|1179/4356|393/1451||,C|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/44|c.1179T>C|p.Thr393Thr|1371/5223|1179/4356|393/1451||;CLINVAR_AF_EXAC=0.43314;CLINVAR_ALLELEID=291537;CLINVAR_CLNDISDB=MedGen:C0015625,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374;CLINVAR_CLNDN=Fanconi_anemia|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.10046624T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:157801|Illumina_Clinical_Services_Laboratory,Illumina:88472;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=72492998	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,7:34:99:0|1:10046615_C_T:213,0,1105
chr3	10046659	rs73126218;342263	A	G	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=4.192;MLEAC=1;MLEAF=0.5;MQ=51.62;MQRankSum=-2.211;QD=5.67;ReadPosRankSum=-2.233;SOR=0.614;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73126218;dbSNPBuildID=131;ANN=G|missense_variant|MODERATE|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/43|c.1214A>G|p.Asn405Ser|1334/5246|1214/4416|405/1471||,G|missense_variant|MODERATE|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/44|c.1214A>G|p.Asn405Ser|1334/5151|1214/4356|405/1451||,G|missense_variant|MODERATE|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/44|c.1214A>G|p.Asn405Ser|1406/5223|1214/4356|405/1451||;CLINVAR_AF_EXAC=0.42007;CLINVAR_ALLELEID=291427;CLINVAR_CLNDISDB=MedGen:C0015625,Orphanet:ORPHA84,SNOMED_CT:30575002;CLINVAR_CLNDN=Fanconi_anemia;CLINVAR_CLNHGVS=NC_000003.12:g.10046659A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31464;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=73126218	GT:AD:DP:GQ:PL	0/1:21,7:28:99:187,0,755
chr3	10046667	rs771869385	C	T	332.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.463;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=3.471;MLEAC=1;MLEAF=0.5;MQ=50.29;MQRankSum=1.3;QD=11.47;ReadPosRankSum=0.092;SOR=1.501;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|stop_gained|HIGH|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/43|c.1222C>T|p.Arg408*|1342/5246|1222/4416|408/1471||,T|stop_gained|HIGH|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/44|c.1222C>T|p.Arg408*|1342/5151|1222/4356|408/1451||,T|stop_gained|HIGH|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/44|c.1222C>T|p.Arg408*|1414/5223|1222/4356|408/1451||;LOF=(FANCD2|FANCD2|3|1.00);NMD=(FANCD2|FANCD2|3|1.00)	GT:AD:DP:GQ:PL	0/1:14,15:29:99:361,0,417
chr3	10046720	rs764447374;439693	C	T	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.124;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.68;MQRankSum=-1.636;QD=10.66;ReadPosRankSum=0.15;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=T|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/43|c.1275C>T|p.Tyr425Tyr|1395/5246|1275/4416|425/1471||,T|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/44|c.1275C>T|p.Tyr425Tyr|1395/5151|1275/4356|425/1451||,T|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/44|c.1275C>T|p.Tyr425Tyr|1467/5223|1275/4356|425/1451||;CLINVAR_ALLELEID=433549;CLINVAR_CLNDISDB=MedGen:C3160738,OMIM:227646|MedGen:CN169374;CLINVAR_CLNDN=Fanconi_anemia,_complementation_group_D2|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.10046720C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:157800;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=764447374	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,7:21:99:0|1:10046720_C_T:252,0,556
chr3	10046723	rs750338758	AG	A	214.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.358;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=41.68;MQRankSum=-1.636;QD=10.23;ReadPosRankSum=0.187;SOR=0.368;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=A|splice_donor_variant&intron_variant|HIGH|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/42|c.1278+1delG||||||,A|splice_donor_variant&intron_variant|HIGH|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/43|c.1278+1delG||||||,A|splice_donor_variant&intron_variant|HIGH|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/43|c.1278+1delG||||||;LOF=(FANCD2|FANCD2|3|1.00);ESP6500_AA_AC=843,3415;ESP6500_AA_GTC=0,843,1286;ESP6500_CDS_SIZES=NM_033084.3:4416,NM_001018115.1:4356;ESP6500_CG=1.5;ESP6500_CP=0.4;ESP6500_DP=32;ESP6500_EA_AC=1328,6892;ESP6500_EA_GTC=1,1326,2783;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033084.3:splice-5,NM_001018115.1:splice-5;ESP6500_GL=FANCD2;ESP6500_GRCh38_POSITION=3:10046723;ESP6500_GTC=1,2169,4069;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_033084.3:c.1278+1del1,NM_001018115.1:c.1278+1del1;ESP6500_MAF=16.1557,19.798,17.3986;ESP6500_TAC=2171,10307	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,7:21:99:0|1:10046720_C_T:252,0,556
chr3	10046725	rs375350046;518343	TAAG	T	214.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.316;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=39.26;MQRankSum=-1.254;QD=11.3;ReadPosRankSum=-0.424;SOR=0.495;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs375350046;dbSNPBuildID=138;ANN=T|splice_region_variant&intron_variant|LOW|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/42|c.1278+3_1278+5delAAG||||||,T|splice_region_variant&intron_variant|LOW|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/43|c.1278+3_1278+5delAAG||||||,T|splice_region_variant&intron_variant|LOW|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/43|c.1278+3_1278+5delAAG||||||;CLINVAR_ALLELEID=508784;CLINVAR_CLNDISDB=MedGen:C3160738,OMIM:227646;CLINVAR_CLNDN=Fanconi_anemia,_complementation_group_D2;CLINVAR_CLNHGVS=NC_000003.12:g.10046726_10046728delAAG;CLINVAR_CLNREVSTAT=no_assertion_criteria_provided;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=375350046	GT:AD:DP:GQ:PGT:PID:PL	0/1:12,7:19:99:0|1:10046720_C_T:252,0,556
chr3	10046738	rs144167368	C	T	235.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.536;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=36.05;MQRankSum=-0.755;QD=13.87;ReadPosRankSum=-0.635;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs144167368;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/42|c.1278+15C>T||||||,T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/43|c.1278+15C>T||||||,T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/43|c.1278+15C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,7:17:99:0|1:10046720_C_T:264,0,399
chr3	10046759	rs145517746	C	A	115.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.122;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=34.38;MQRankSum=0;QD=9.65;ReadPosRankSum=0.901;SOR=1.721;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs145517746;dbSNPBuildID=134;ANN=A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/42|c.1278+36C>A||||||,A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/43|c.1278+36C>A||||||,A|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/43|c.1278+36C>A||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:8,4:12:99:0|1:10046759_C_A:144,0,304
chr3	10046760	rs142624538	A	G	115.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.97;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=34.98;MQRankSum=-0.203;QD=10.52;ReadPosRankSum=0.723;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142624538;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/42|c.1278+37A>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/43|c.1278+37A>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/43|c.1278+37A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:7,4:11:99:0|1:10046759_C_A:144,0,304
chr3	10046777	rs150415982	T	C	93.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=33.6;MQRankSum=0.241;QD=10.42;ReadPosRankSum=0.231;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150415982;dbSNPBuildID=134;ANN=C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|15/42|c.1278+54T>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|15/43|c.1278+54T>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|15/43|c.1278+54T>C||||||	GT:AD:DP:GQ:PL	0/1:5,4:9:99:122,0,142
chr3	10048039	rs12330369;342267	G	A	122.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.328;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.71;MQRankSum=-1.701;QD=3.32;ReadPosRankSum=0.745;SOR=0.706;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12330369;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|16/43|c.1401G>A|p.Thr467Thr|1521/5246|1401/4416|467/1471||,A|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|16/44|c.1401G>A|p.Thr467Thr|1521/5151|1401/4356|467/1451||,A|synonymous_variant|LOW|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|16/44|c.1401G>A|p.Thr467Thr|1593/5223|1401/4356|467/1451||;CLINVAR_AF_EXAC=0.44948;CLINVAR_ALLELEID=287811;CLINVAR_CLNDISDB=MedGen:C0015625,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:C3160738,OMIM:227646|MedGen:CN169374;CLINVAR_CLNDN=Fanconi_anemia|Fanconi_anemia,_complementation_group_D2|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.10048039G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:28863|Illumina_Clinical_Services_Laboratory,Illumina:99316;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12330369;CLINVAR_SSR=1	GT:AD:DP:GQ:PL	0/1:28,9:37:99:151,0,805
chr3	10048054	rs62245508;342268	A	G	138.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.1;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.691;MLEAC=1;MLEAF=0.5;MQ=59.67;MQRankSum=-1.697;QD=4.21;ReadPosRankSum=1.1;SOR=1.274;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62245508;dbSNPBuildID=129;ANN=G|splice_region_variant&intron_variant|LOW|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|16/42|c.1413+3A>G||||||,G|splice_region_variant&intron_variant|LOW|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|16/43|c.1413+3A>G||||||,G|splice_region_variant&intron_variant|LOW|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|16/43|c.1413+3A>G||||||;CLINVAR_AF_EXAC=0.44169;CLINVAR_ALLELEID=291549;CLINVAR_CLNDISDB=MedGen:C0015625,Orphanet:ORPHA84,SNOMED_CT:30575002|MedGen:CN169374;CLINVAR_CLNDN=Fanconi_anemia|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.10048054A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:28862|Illumina_Clinical_Services_Laboratory,Illumina:615016;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=62245508;CLINVAR_SSR=16	GT:AD:DP:GQ:PL	0/1:25,8:33:99:167,0,681
chr3	10048065	rs12330599;342269	T	C	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.454;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.65;MQRankSum=-1.622;QD=4.57;ReadPosRankSum=0.815;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12330599;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|16/42|c.1413+14T>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|16/43|c.1413+14T>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|16/43|c.1413+14T>C||||||;CLINVAR_AF_EXAC=0.43070;CLINVAR_ALLELEID=288502;CLINVAR_CLNDISDB=MedGen:C0015625,Orphanet:ORPHA84,SNOMED_CT:30575002;CLINVAR_CLNDN=Fanconi_anemia;CLINVAR_CLNHGVS=NC_000003.12:g.10048065T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:88059;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=12330599;CLINVAR_SSR=1	GT:AD:DP:GQ:PL	0/1:23,8:31:99:170,0,669
chr3	10048088	rs79830642	C	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.87;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.58;MQRankSum=-1.734;QD=6.3;ReadPosRankSum=0.275;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79830642;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|16/42|c.1413+37C>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|16/43|c.1413+37C>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|16/43|c.1413+37C>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,6:26:99:0|1:10048088_C_G:192,0,1065
chr3	10048089	rs7615646	A	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.476;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.58;MQRankSum=-1.734;QD=6.3;ReadPosRankSum=0.244;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7615646;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|16/42|c.1413+38A>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|16/43|c.1413+38A>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|16/43|c.1413+38A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:20,6:26:99:0|1:10048088_C_G:192,0,1065
chr3	10048091	rs75389047	A	G	163.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.435;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.57;MQRankSum=-1.686;QD=6.55;ReadPosRankSum=0.032;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75389047;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|16/42|c.1413+40A>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|16/43|c.1413+40A>G||||||,G|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|16/43|c.1413+40A>G||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,6:25:99:0|1:10048088_C_G:192,0,1065
chr3	10048131	rs77169020	A	C	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=59.32;MQRankSum=-2.457;QD=0.87;ReadPosRankSum=-0.646;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77169020;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|16/42|c.1413+80A>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|16/43|c.1413+80A>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|16/43|c.1413+80A>C||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,2:16:42:0|1:10048131_A_C:42,0,776
chr3	10048134	rs78988497	C	T	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.906;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=59.32;MQRankSum=-2.457;QD=0.87;ReadPosRankSum=-0.646;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78988497;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|16/42|c.1413+83C>T||||||,T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|16/43|c.1413+83C>T||||||,T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|16/43|c.1413+83C>T||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,2:16:42:0|1:10048131_A_C:42,0,776
chr3	10063977	rs1404856498;rs797045572;210978	CT	C	142.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.248;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.885;MLEAC=1;MLEAF=0.5;MQ=55.81;MQRankSum=-5.317;QD=4.08;ReadPosRankSum=-2.38;SOR=1.445;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369470214;dbSNPBuildID=151,136;ANN=C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|21/42|c.1947+69delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|21/43|c.1947+69delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|21/43|c.1947+69delT||||||INFO_REALIGN_3_PRIME;CLINVAR_ALLELEID=207030;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.10063980delT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=797045572	GT:AD:DP:GQ:PL	0/1:27,8:35:99:180,0,854
chr3	10064460	rs3864015;210979	C	T	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.136;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=56.37;MQRankSum=-5.992;QD=2.68;ReadPosRankSum=1.64;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3864015;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|22/42|c.2021+31C>T||||||,T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|22/43|c.2021+31C>T||||||,T|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|22/43|c.2021+31C>T||||||;CLINVAR_AF_EXAC=0.01207;CLINVAR_ALLELEID=207031;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.10064460C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=FANCD2:2177|LOC107303338:107303338;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3864015;CLINVAR_SSR=1	GT:AD:DP:GQ:PL	0/1:52,15:67:99:208,0,1549
chr3	10064924	rs4019785	T	C	20.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.831;MLEAC=1;MLEAF=0.5;MQ=58.31;MQRankSum=-3.357;QD=1.04;ReadPosRankSum=-1.422;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNPBuildID=108;ANN=C|sequence_feature|MODERATE|FANCD2|FANCD2|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_033084.4|protein_coding|23/42|c.2168+49T>C||||||,C|sequence_feature|MODERATE|FANCD2|FANCD2|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_001319984.1|protein_coding|23/43|c.2168+49T>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|23/42|c.2168+49T>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|23/43|c.2168+49T>C||||||,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|23/43|c.2168+49T>C||||||	GT:AD:DP:GQ:PL	0/1:17,3:20:49:49,0,440
chr3	10087281	rs761980909	CTT	C	46.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.842;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.524;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_033084.4|protein_coding|34/42|c.3466+35_3466+36delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001018115.2|protein_coding|34/43|c.3466+35_3466+36delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|FANCD2|FANCD2|transcript|NM_001319984.1|protein_coding|34/43|c.3466+35_3466+36delTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|FANCD2OS|FANCD2OS|transcript|NM_173472.1|protein_coding|2/2|c.*44-5752_*44-5751delAA||||||	GT:AD:DP:GQ:PL	0/1:2,3:5:37:84,0,37
chr3	10141590	rs779804	C	T	136.81	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.54;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs779804;dbSNPBuildID=86;ANN=T|upstream_gene_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding||c.-258C>T|||||45|,T|upstream_gene_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding||c.-258C>T|||||45|,T|intergenic_region|MODIFIER|BRK1-VHL|BRK1-VHL|intergenic_region|BRK1-VHL|||n.10141590C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4397;p3_1000G_AF=0.877995;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=14664;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.8757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10183274;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8016;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:20:165,20,0
chr3	10141648	.	A	T	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.545;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.546;SOR=0.569;SNP;HET;VARTYPE=SNP;ANN=T|5_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|1/3|c.-200A>T|||||200|,T|5_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|1/2|c.-200A>T|||||200|	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,2:15:42:0|1:10141648_A_T:42,0,575
chr3	10141649	.	C	A	13.95	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.567;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.94;SOR=0.473;SNP;HET;VARTYPE=SNP;ANN=A|5_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|1/3|c.-199C>A|||||199|,A|5_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|1/2|c.-199C>A|||||199|	GT:AD:DP:GQ:PGT:PID:PL	0/1:14,2:16:42:0|1:10141648_A_T:42,0,575
chr3	10141653	rs779805;342397	G	A	565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs779805;dbSNPBuildID=86;ANN=A|5_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|1/3|c.-195G>A|||||195|,A|5_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|1/2|c.-195G>A|||||195|;p3_1000G_AA=G|||;p3_1000G_AC=2721;p3_1000G_AF=0.543331;p3_1000G_AFR_AF=0.1558;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=15216;p3_1000G_EAS_AF=0.8185;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10183337;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5798;p3_1000G_VT=SNP;CLINVAR_ALLELEID=291569;CLINVAR_CLNDISDB=MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED_CT:46659004;CLINVAR_CLNDN=Von_Hippel-Lindau_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.10141653G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31406;CLINVAR_GENEINFO=VHL:7428;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=779805	GT:AD:DP:GQ:PL	1/1:0,17:17:51:594,51,0
chr3	10145330	rs779812	A	G	1379.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=1.251;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs779812;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|1/2|c.341-1184A>G||||||,G|intron_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|1/1|c.340+3143A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4400;p3_1000G_AF=0.878594;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=16804;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.8757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10187014;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1408,141,0
chr3	10145428	rs779813	A	G	1086.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.6;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs779813;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|1/2|c.341-1086A>G||||||,G|intron_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|1/1|c.340+3241A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4400;p3_1000G_AF=0.878594;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=13379;p3_1000G_EAS_AF=0.8889;p3_1000G_EUR_AF=0.8757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10187112;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1115,114,0
chr3	10145487	rs374645	T	C	326.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.26;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs374645;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|1/2|c.341-1027T>C||||||,C|intron_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|1/1|c.340+3300T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4767;p3_1000G_AF=0.951877;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.9236;p3_1000G_AN=5008;p3_1000G_DP=11356;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9185;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10187171;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.909;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:355,27,0
chr3	10146744	rs1678607	T	G	563.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.76;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1678607;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|2/2|c.463+108T>G||||||,G|intron_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|1/1|c.341-3043T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4252;p3_1000G_AF=0.849042;p3_1000G_AFR_AF=0.9395;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=18852;p3_1000G_EAS_AF=0.8224;p3_1000G_EUR_AF=0.829;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10188428;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:592,48,0
chr3	10150259	rs1642742;342407	G	A	2061.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=1.098;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1642742;dbSNPBuildID=89;ANN=A|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*294G>A|||||294|,A|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*294G>A|||||294|;p3_1000G_AA=G|||;p3_1000G_AC=2790;p3_1000G_AF=0.557109;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.6095;p3_1000G_AN=5008;p3_1000G_DP=23884;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10191943;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;CLINVAR_ALLELEID=287967;CLINVAR_CLNDISDB=MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED_CT:46659004;CLINVAR_CLNDN=Von_Hippel-Lindau_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.10150259G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31416;CLINVAR_GENEINFO=VHL:7428|LOC107303340:107303340;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1642742	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2090,204,0
chr3	10150988	rs1681669;342424	G	A	408.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.09;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1681669;dbSNPBuildID=89;ANN=A|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*1023G>A|||||1023|,A|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*1023G>A|||||1023|;p3_1000G_AA=G|||;p3_1000G_AC=2928;p3_1000G_AF=0.584665;p3_1000G_AFR_AF=0.3071;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=19622;p3_1000G_EAS_AF=0.8175;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10192672;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP;CLINVAR_ALLELEID=287980;CLINVAR_CLNDISDB=MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED_CT:46659004;CLINVAR_CLNDN=Von_Hippel-Lindau_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.10150988G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31419;CLINVAR_GENEINFO=VHL:7428|LOC107303340:107303340;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1681669	GT:AD:DP:GQ:PL	1/1:0,11:11:33:437,33,0
chr3	10151025	rs1681668;342425	C	T	400.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1681668;dbSNPBuildID=89;ANN=T|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*1060C>T|||||1060|,T|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*1060C>T|||||1060|;p3_1000G_AA=C|||;p3_1000G_AC=2788;p3_1000G_AF=0.556709;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=18301;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10192709;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;CLINVAR_ALLELEID=291585;CLINVAR_CLNDISDB=MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED_CT:46659004;CLINVAR_CLNDN=Von_Hippel-Lindau_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.10151025C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31430;CLINVAR_GENEINFO=VHL:7428|LOC107303340:107303340;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1681668	GT:AD:DP:GQ:PL	1/1:0,12:12:36:429,36,0
chr3	10151078	rs1642741	T	C	654.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.08;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1642741;dbSNPBuildID=89;ANN=C|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*1113T>C|||||1113|,C|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*1113T>C|||||1113|;p3_1000G_AA=C|||;p3_1000G_AC=4414;p3_1000G_AF=0.88139;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=18317;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10192762;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:683,51,0
chr3	10151825	rs458106;342451	A	G	841.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.06;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs458106;dbSNPBuildID=80;ANN=G|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*1860A>G|||||1860|,G|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*1860A>G|||||1860|;p3_1000G_AA=G|||;p3_1000G_AC=4948;p3_1000G_AF=0.988019;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=16293;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9712;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10193509;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9949;p3_1000G_VT=SNP;CLINVAR_ALLELEID=287987;CLINVAR_CLNDISDB=MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED_CT:46659004;CLINVAR_CLNDN=Von_Hippel-Lindau_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.10151825A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31444;CLINVAR_GENEINFO=VHL:7428|LOC107303340:107303340;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=458106	GT:AD:DP:GQ:PL	1/1:0,28:28:84:870,84,0
chr3	10151999	rs1136249;342459	T	G	77.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.76;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1136249;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*2034T>G|||||2034|,G|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*2034T>G|||||2034|;p3_1000G_AA=T|||;p3_1000G_AC=2749;p3_1000G_AF=0.548922;p3_1000G_AFR_AF=0.1793;p3_1000G_AMR_AF=0.5994;p3_1000G_AN=5008;p3_1000G_DP=14741;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.7008;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10193683;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5808;p3_1000G_VT=SNP;CLINVAR_ALLELEID=291602;CLINVAR_CLNDISDB=MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED_CT:46659004;CLINVAR_CLNDN=Von_Hippel-Lindau_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.10151999T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31452;CLINVAR_GENEINFO=VHL:7428|LOC107303340:107303340;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1136249	GT:AD:DP:GQ:PL	1/1:0,3:3:9:105,9,0
chr3	10152940	rs801913;342491	G	C	313.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.85;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs801913;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*2975G>C|||||2975|,C|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*2975G>C|||||2975|;p3_1000G_AA=N|||;p3_1000G_AC=4457;p3_1000G_AF=0.889976;p3_1000G_AFR_AF=0.9803;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=14274;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10194624;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8292;p3_1000G_VT=SNP;CLINVAR_ALLELEID=288023;CLINVAR_CLNDISDB=MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED_CT:46659004;CLINVAR_CLNDN=Von_Hippel-Lindau_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.10152940G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31461;CLINVAR_GENEINFO=VHL:7428|LOC107303340:107303340;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=801913	GT:AD:DP:GQ:PL	1/1:0,8:8:24:342,24,0
chr3	10153609	rs201632485;342512	T	TG	1820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.08;SOR=0.793;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs201632485;dbSNPBuildID=137;ANN=TG|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*3644_*3645insG|||||3645|,TG|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*3644_*3645insG|||||3645|;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4863;p3_1000G_AF=0.971046;p3_1000G_AFR_AF=0.9894;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=18290;p3_1000G_EAS_AF=0.9772;p3_1000G_EUR_AF=0.9662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10195293;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9581;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=288779;CLINVAR_CLNDISDB=MedGen:C0019562,OMIM:193300,Orphanet:ORPHA892,SNOMED_CT:46659004;CLINVAR_CLNDN=Von_Hippel-Lindau_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.10153609_10153610insG;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498566;CLINVAR_GENEINFO=VHL:7428|LOC107303340:107303340;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=201632485	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1849,129,0
chr3	10153614	rs149915954	T	G	1935.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.42;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs149915954;dbSNPBuildID=134;ANN=G|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*3649T>G|||||3649|,G|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*3649T>G|||||3649|;p3_1000G_AA=N|||;p3_1000G_AC=3354;p3_1000G_AF=0.669728;p3_1000G_AFR_AF=0.6225;p3_1000G_AMR_AF=0.6542;p3_1000G_AN=5008;p3_1000G_DP=16697;p3_1000G_EAS_AF=0.7034;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10195298;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,44:44:99:1|1:10153614_T_G:1964,132,0
chr3	10153619	rs1678595	T	G	1927.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.65;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1678595;dbSNPBuildID=89;ANN=G|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding|3/3|c.*3654T>G|||||3654|,G|3_prime_UTR_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding|2/2|c.*3654T>G|||||3654|;p3_1000G_AA=t|||;p3_1000G_AC=3500;p3_1000G_AF=0.698882;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.6657;p3_1000G_AN=5008;p3_1000G_DP=16400;p3_1000G_EAS_AF=0.7044;p3_1000G_EUR_AF=0.7028;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10195303;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,44:44:99:1|1:10153614_T_G:1956,132,0
chr3	10153801	rs1642739	A	C	749.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.48;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1642739;dbSNPBuildID=89;ANN=C|downstream_gene_variant|MODIFIER|VHL|VHL|transcript|NM_000551.3|protein_coding||c.*3836A>C|||||131|,C|downstream_gene_variant|MODIFIER|VHL|VHL|transcript|NM_198156.2|protein_coding||c.*3836A>C|||||131|,C|intergenic_region|MODIFIER|VHL-IRAK2|VHL-IRAK2|intergenic_region|VHL-IRAK2|||n.10153801A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4415;p3_1000G_AF=0.881589;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=13391;p3_1000G_EAS_AF=0.8879;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10195485;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:778,60,0
chr3	10177824	rs2306696	T	C	312.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.38;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.366;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2306696;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|IRAK2|IRAK2|transcript|NM_001570.3|protein_coding|1/12|c.95-14T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=887;p3_1000G_AF=0.177117;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=18092;p3_1000G_EAS_AF=0.1022;p3_1000G_EUR_AF=0.2117;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10219508;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=405,4001;ESP6500_AA_AGE=185.3+/-212.5;ESP6500_AA_GTC=19,367,1817;ESP6500_CDS_SIZES=NM_001570.3:1878;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=1678,6922;ESP6500_EA_AGE=276.7+/-292.4;ESP6500_EA_GTC=178,1322,2800;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001570.3:intron;ESP6500_GL=IRAK2;ESP6500_GRCh38_POSITION=3:10177824;ESP6500_GTC=197,1689,4617;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001570.3:c.95-14T>C;ESP6500_MAF=19.5116,9.192,16.0157;ESP6500_TAC=2083,10923	GT:AD:DP:GQ:PL	0/1:18,12:30:99:341,0,475
chr3	10178045	rs1681663	A	G	18.82	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.619;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=1.61;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1681663;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|IRAK2|IRAK2|transcript|NM_001570.3|protein_coding|2/12|c.277+25A>G||||||;p3_1000G_AA=g|||;p3_1000G_AC=2918;p3_1000G_AF=0.582668;p3_1000G_AFR_AF=0.6286;p3_1000G_AMR_AF=0.6916;p3_1000G_AN=5008;p3_1000G_DP=16650;p3_1000G_EAS_AF=0.2192;p3_1000G_EUR_AF=0.7694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10219729;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2885,1521;ESP6500_AA_GTC=975,935,293;ESP6500_CDS_SIZES=NM_001570.3:1878;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=27;ESP6500_EA_AC=6662,1938;ESP6500_EA_GTC=2604,1454,242;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001570.3:intron;ESP6500_GL=IRAK2;ESP6500_GRCh38_POSITION=3:10178045;ESP6500_GTC=3579,2389,535;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001570.3:c.277+25A>G;ESP6500_MAF=22.5349,34.5211,26.5954;ESP6500_TAC=9547,3459	GT:AD:DP:GQ:PL	0/1:6,2:8:47:47,0,181
chr3	10200303	rs263410	A	C	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.492;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-0.922;SOR=1.002;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs263410;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|IRAK2|IRAK2|transcript|NM_001570.3|protein_coding|2/12|c.278-66A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3260;p3_1000G_AF=0.650958;p3_1000G_AFR_AF=0.6747;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=17308;p3_1000G_EAS_AF=0.3542;p3_1000G_EUR_AF=0.8519;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10241987;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6278;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,9:14:99:267,0,127
chr3	10222615	rs813591	C	T	1178.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.68;SOR=2.964;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs813591;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|IRAK2|IRAK2|transcript|NM_001570.3|protein_coding|8/12|c.1014-21C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1869;p3_1000G_AF=0.373203;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=22747;p3_1000G_EAS_AF=0.6399;p3_1000G_EUR_AF=0.1491;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10264299;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4571;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1368,3038;ESP6500_AA_AGE=690.9+/-405.3;ESP6500_AA_GTC=220,928,1055;ESP6500_CDS_SIZES=NM_001570.3:1878;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=121;ESP6500_EA_AC=1162,7438;ESP6500_EA_AGE=765.3+/-407.6;ESP6500_EA_GTC=82,998,3220;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001570.3:intron;ESP6500_GL=IRAK2;ESP6500_GRCh38_POSITION=3:10222615;ESP6500_GTC=302,1926,4275;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001570.3:c.1014-21C>T;ESP6500_MAF=13.5116,31.0486,19.4526;ESP6500_TAC=2530,10476	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1207,105,0
chr3	10226333	rs779905	C	T	1082.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=1.675;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs779905;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|IRAK2|IRAK2|transcript|NM_001570.3|protein_coding|9/12|c.1210-38C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1828;p3_1000G_AF=0.365016;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.2738;p3_1000G_AN=5008;p3_1000G_DP=18241;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.1481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10268017;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4243;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1344,3062;ESP6500_AA_AGE=690.1+/-405.2;ESP6500_AA_GTC=210,924,1069;ESP6500_CDS_SIZES=NM_001570.3:1878;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=66;ESP6500_EA_AC=1175,7419;ESP6500_EA_AGE=761.5+/-407.6;ESP6500_EA_GTC=83,1009,3205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001570.3:intron;ESP6500_GL=IRAK2;ESP6500_GRCh38_POSITION=3:10226333;ESP6500_GTC=293,1933,4274;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001570.3:c.1210-38C>T;ESP6500_MAF=13.6723,30.5039,19.3769;ESP6500_TAC=2519,10481	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1111,105,0
chr3	10234479	rs708035	T	A	1856.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=0.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs708035;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|IRAK2|IRAK2|transcript|NM_001570.3|protein_coding|11/13|c.1293T>A|p.Asp431Glu|1369/3469|1293/1878|431/625||;p3_1000G_AA=A|||;p3_1000G_AC=4142;p3_1000G_AF=0.827077;p3_1000G_AFR_AF=0.7776;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=18466;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.6521;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10276163;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9182;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3367,1039;ESP6500_AA_AGE=382.3+/-324.4;ESP6500_AA_GTC=1282,803,118;ESP6500_CDS_SIZES=NM_001570.3:1878;ESP6500_CG=-1.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=71;ESP6500_EA_AC=5448,3152;ESP6500_EA_AGE=480.1+/-370.3;ESP6500_EA_GTC=1746,1956,598;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001570.3:missense;ESP6500_GL=IRAK2;ESP6500_GRCh38_POSITION=3:10234479;ESP6500_GS=45;ESP6500_GTC=3028,2759,716;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001570.3:c.1293T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001570.3:p.(D431E);ESP6500_MAF=36.6512,23.5815,32.2236;ESP6500_PH=benign:0.0;ESP6500_TAC=8815,4191	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1885,186,0
chr3	10241986	rs397933373;rs56369677	G	GA	67.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=16.75;SOR=3.258;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs56369677;dbSNPBuildID=130,138;ANN=GA|intron_variant|MODIFIER|IRAK2|IRAK2|transcript|NM_001570.3|protein_coding|12/12|c.1766-117dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=3455;p3_1000G_AF=0.689896;p3_1000G_AFR_AF=0.6309;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=17104;p3_1000G_EAS_AF=0.755;p3_1000G_EUR_AF=0.5915;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10283670;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8037;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:104,12,0
chr3	10242032	rs796552	A	G	453.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs796552;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|IRAK2|IRAK2|transcript|NM_001570.3|protein_coding|12/12|c.1766-84A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=4114;p3_1000G_AF=0.821486;p3_1000G_AFR_AF=0.761;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=17549;p3_1000G_EAS_AF=0.9901;p3_1000G_EUR_AF=0.6471;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10283716;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9192;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:482,45,0
chr3	10260361	rs2241313	C	T	1362.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.56;SOR=0.756;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2241313;dbSNPBuildID=98;ANN=T|synonymous_variant|LOW|TATDN2|TATDN2|transcript|NM_014760.3|protein_coding|3/8|c.639C>T|p.Ser213Ser|1220/4907|639/2286|213/761||;p3_1000G_AA=C|||;p3_1000G_AC=1656;p3_1000G_AF=0.330671;p3_1000G_AFR_AF=0.2421;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=16318;p3_1000G_EAS_AF=0.62;p3_1000G_EUR_AF=0.1024;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10302045;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=934,3472;ESP6500_AA_AGE=355.1+/-312.9;ESP6500_AA_GTC=104,726,1373;ESP6500_CDS_SIZES=NM_014760.3:2286;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=49;ESP6500_EA_AC=882,7718;ESP6500_EA_AGE=198.9+/-243.1;ESP6500_EA_GTC=44,794,3462;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014760.3:coding-synonymous;ESP6500_GL=TATDN2;ESP6500_GRCh38_POSITION=3:10260361;ESP6500_GTC=148,1520,4835;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014760.3:c.639C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014760.3:p.(S213);ESP6500_MAF=10.2558,21.1984,13.9628;ESP6500_TAC=1816,11190	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,31:31:96:1|1:10260361_C_T:1391,96,0
chr3	10260372	rs2241314	A	G	1486.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.63;SOR=1.002;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2241314;dbSNPBuildID=98;ANN=G|missense_variant|MODERATE|TATDN2|TATDN2|transcript|NM_014760.3|protein_coding|3/8|c.650A>G|p.His217Arg|1231/4907|650/2286|217/761||;p3_1000G_AA=G|||;p3_1000G_AC=1811;p3_1000G_AF=0.361621;p3_1000G_AFR_AF=0.2814;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=16636;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.1024;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10302056;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5276;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1113,3293;ESP6500_AA_AGE=715.0+/-408.4;ESP6500_AA_GTC=151,811,1241;ESP6500_CDS_SIZES=NM_014760.3:2286;ESP6500_CG=-6.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=48;ESP6500_EA_AC=883,7717;ESP6500_EA_AGE=778.1+/-407.7;ESP6500_EA_GTC=44,795,3461;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014760.3:missense;ESP6500_GL=TATDN2;ESP6500_GRCh38_POSITION=3:10260372;ESP6500_GS=29;ESP6500_GTC=195,1606,4702;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014760.3:c.650A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014760.3:p.(H217R);ESP6500_MAF=10.2674,25.261,15.3468;ESP6500_PH=benign:0.0;ESP6500_TAC=1996,11010	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:10260361_C_T:1515,108,0
chr3	10260488	rs394558	G	A	1665.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs394558;dbSNPBuildID=80;ANN=A|missense_variant|MODERATE|TATDN2|TATDN2|transcript|NM_014760.3|protein_coding|3/8|c.766G>A|p.Val256Ile|1347/4907|766/2286|256/761||;p3_1000G_AA=A|||;p3_1000G_AC=2986;p3_1000G_AF=0.596246;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=19472;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.4304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10302172;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1647,2759;ESP6500_AA_AGE=657.7+/-400.3;ESP6500_AA_GTC=312,1023,868;ESP6500_CDS_SIZES=NM_014760.3:2286;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=61;ESP6500_EA_AC=3466,5134;ESP6500_EA_AGE=635.5+/-399.0;ESP6500_EA_GTC=697,2072,1531;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014760.3:missense;ESP6500_GL=TATDN2;ESP6500_GRCh38_POSITION=3:10260488;ESP6500_GS=29;ESP6500_GTC=1009,3095,2399;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014760.3:c.766G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014760.3:p.(V256I);ESP6500_MAF=40.3023,37.3808,39.3126;ESP6500_PH=benign:0.027;ESP6500_TAC=5113,7893	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1694,159,0
chr3	10260685	rs451952	T	C	1485.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.32;SOR=1.345;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs451952;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|TATDN2|TATDN2|transcript|NM_014760.3|protein_coding|3/7|c.948+15T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2986;p3_1000G_AF=0.596246;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.4207;p3_1000G_AN=5008;p3_1000G_DP=18665;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.4304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10302369;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1611,2773;ESP6500_AA_GTC=311,989,892;ESP6500_CDS_SIZES=NM_014760.3:2286;ESP6500_CG=-9.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=49;ESP6500_EA_AC=3408,5154;ESP6500_EA_GTC=719,1970,1592;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014760.3:intron;ESP6500_GL=TATDN2;ESP6500_GRCh38_POSITION=3:10260685;ESP6500_GTC=1030,2959,2484;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014760.3:c.948+15T>C;ESP6500_MAF=39.8038,36.7473,38.7687;ESP6500_TAC=5019,7927	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1514,147,0
chr3	10260711	rs439483	G	C	1376.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.29;SOR=1.662;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs439483;dbSNPBuildID=80;ANN=C|intron_variant|MODIFIER|TATDN2|TATDN2|transcript|NM_014760.3|protein_coding|3/7|c.948+41G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3503;p3_1000G_AF=0.699481;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=18294;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10302395;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3038,1304;ESP6500_AA_GTC=1113,812,246;ESP6500_CDS_SIZES=NM_014760.3:2286;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=32;ESP6500_EA_AC=3550,4884;ESP6500_EA_GTC=822,1906,1489;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014760.3:intron;ESP6500_GL=TATDN2;ESP6500_GRCh38_POSITION=3:10260711;ESP6500_GTC=1935,2718,1735;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014760.3:c.948+41G>C;ESP6500_MAF=42.0915,30.0322,48.4346;ESP6500_TAC=6588,6188	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1405,132,0
chr3	10260795	rs402330	G	A	333.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs402330;dbSNPBuildID=80;ANN=A|intron_variant|MODIFIER|TATDN2|TATDN2|transcript|NM_014760.3|protein_coding|3/7|c.948+125G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4901;p3_1000G_AF=0.978634;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=19457;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.9344;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10302479;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:362,33,0
chr3	10270089	rs715827	A	G	2028.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=1.571;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs715827;dbSNPBuildID=96;ANN=G|intron_variant|MODIFIER|TATDN2|TATDN2|transcript|NM_014760.3|protein_coding|3/7|c.949-42A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1792;p3_1000G_AF=0.357827;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=21598;p3_1000G_EAS_AF=0.6617;p3_1000G_EUR_AF=0.1461;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10311773;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4806;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=714,3692;ESP6500_AA_AGE=294.7+/-283.3;ESP6500_AA_GTC=55,604,1544;ESP6500_CDS_SIZES=NM_014760.3:2286;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=44;ESP6500_EA_AC=1182,7418;ESP6500_EA_AGE=232.1+/-265.8;ESP6500_EA_GTC=67,1048,3185;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014760.3:intron;ESP6500_GL=TATDN2;ESP6500_GRCh38_POSITION=3:10270089;ESP6500_GTC=122,1652,4729;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014760.3:c.949-42A>G;ESP6500_MAF=13.7442,16.2052,14.5779;ESP6500_TAC=1896,11110	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2057,180,0
chr3	10286566	rs35683	A	C	355.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.55;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs35683;dbSNPBuildID=76;ANN=C|downstream_gene_variant|MODIFIER|LINC00852|LINC00852|transcript|NR_026829.1|pseudogene||n.*820A>C|||||820|,C|intron_variant|MODIFIER|GHRLOS|GHRLOS|transcript|NR_073566.1|pseudogene|4/6|n.336+713A>C||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001302821.1|protein_coding|6/6|c.334+138T>G||||||,C|intron_variant|MODIFIER|GHRLOS|GHRLOS|transcript|NR_004431.3|pseudogene|2/4|n.157+713A>C||||||,C|intron_variant|MODIFIER|GHRLOS|GHRLOS|transcript|NR_024144.2|pseudogene|3/5|n.240+713A>C||||||,C|intron_variant|MODIFIER|GHRLOS|GHRLOS|transcript|NR_024145.2|pseudogene|4/5|n.397+713A>C||||||,C|intron_variant|MODIFIER|GHRLOS|GHRLOS|transcript|NR_073567.1|pseudogene|3/5|n.240+713A>C||||||,C|intron_variant|MODIFIER|GHRLOS|GHRLOS|transcript|NR_073568.1|pseudogene|3/5|n.240+713A>C||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001134941.2|protein_coding|5/5|c.331+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001134944.1|protein_coding|3/3|c.298+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001134945.1|protein_coding|3/3|c.295+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001134946.1|protein_coding|2/2|c.181+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001302822.1|protein_coding|5/5|c.334+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001302823.1|protein_coding|5/5|c.331+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001302824.1|protein_coding|5/5|c.334+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_001302825.1|protein_coding|4/4|c.334+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NM_016362.4|protein_coding|5/5|c.334+138T>G||||||,C|intron_variant|MODIFIER|GHRL|GHRL|transcript|NR_126505.1|pseudogene|1/1|n.107-672T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3656;p3_1000G_AF=0.730032;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=20803;p3_1000G_EAS_AF=0.9702;p3_1000G_EUR_AF=0.5477;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10328250;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:384,30,0
chr3	10301192	rs696221	C	T	1590.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.46;SOR=1.225;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs696221;dbSNPBuildID=86;ANN=T|3_prime_UTR_variant|MODIFIER|SEC13|SEC13|transcript|NM_001136026.2|protein_coding|10/10|c.*69G>A|||||69|,T|3_prime_UTR_variant|MODIFIER|SEC13|SEC13|transcript|NM_001136232.2|protein_coding|9/9|c.*69G>A|||||69|,T|3_prime_UTR_variant|MODIFIER|SEC13|SEC13|transcript|NM_030673.3|protein_coding|10/10|c.*69G>A|||||69|,T|3_prime_UTR_variant|MODIFIER|SEC13|SEC13|transcript|NM_183352.2|protein_coding|9/9|c.*69G>A|||||69|;p3_1000G_AA=T|||;p3_1000G_AC=3860;p3_1000G_AF=0.770767;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.696;p3_1000G_AN=5008;p3_1000G_DP=18278;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.5487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10342876;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1284,468;ESP6500_AA_GTC=471,342,63;ESP6500_CDS_SIZES=NM_183352.1:969,NM_001136232.1:927;ESP6500_CG=-9.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=43;ESP6500_EA_AC=2100,1882;ESP6500_EA_GTC=581,938,472;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_183352.1:utr-3,NM_001136232.1:utr-3;ESP6500_GL=SEC13;ESP6500_GRCh38_POSITION=3:10301192;ESP6500_GTC=1052,1280,535;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_183352.1:c.*69G>A,NM_001136232.1:c.*69G>A;ESP6500_MAF=47.2627,26.7123,40.9836;ESP6500_TAC=3384,2350	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1619,145,0
chr3	10317944	rs1642977	T	A	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.317;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1642977;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|SEC13|SEC13|transcript|NM_001136026.2|protein_coding|3/9|c.186+106A>T||||||,A|intron_variant|MODIFIER|SEC13|SEC13|transcript|NM_001136232.2|protein_coding|2/8|c.6+106A>T||||||,A|intron_variant|MODIFIER|SEC13|SEC13|transcript|NM_030673.3|protein_coding|3/9|c.57+106A>T||||||,A|intron_variant|MODIFIER|SEC13|SEC13|transcript|NM_183352.2|protein_coding|2/8|c.48+106A>T||||||,A|intron_variant|MODIFIER|SEC13|SEC13|transcript|NM_001278946.1|protein_coding|2/4|c.48+106A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=784;p3_1000G_AF=0.15655;p3_1000G_AFR_AF=0.0658;p3_1000G_AMR_AF=0.0893;p3_1000G_AN=5008;p3_1000G_DP=20657;p3_1000G_EAS_AF=0.3929;p3_1000G_EUR_AF=0.1193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10359628;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:342,0,248
chr3	10328802	rs4327369	G	C	386.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.451;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.375;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4327369;dbSNPBuildID=111;ANN=C|3_prime_UTR_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|23/23|c.*12C>G|||||12|,C|3_prime_UTR_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|20/20|c.*12C>G|||||12|,C|upstream_gene_variant|MODIFIER|MIR378B|MIR378B|transcript|NR_036084.1|pseudogene||n.-1427G>C|||||1427|;p3_1000G_AA=C|||;p3_1000G_AC=2315;p3_1000G_AF=0.46226;p3_1000G_AFR_AF=0.5038;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=11900;p3_1000G_EAS_AF=0.6071;p3_1000G_EUR_AF=0.2634;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10370486;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.544;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1927,2479;ESP6500_AA_AGE=623.9+/-394.2;ESP6500_AA_GTC=411,1105,687;ESP6500_CDS_SIZES=NM_001683.3:3597,NM_001001331.2:3732;ESP6500_CG=2.2;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=65;ESP6500_EA_AC=2121,6479;ESP6500_EA_AGE=715.3+/-406.0;ESP6500_EA_GTC=265,1591,2444;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001683.3:utr-3,NM_001001331.2:utr-3;ESP6500_GL=ATP2B2;ESP6500_GRCh38_POSITION=3:10328802;ESP6500_GTC=676,2696,3131;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_001683.3:c.*12C>G,NM_001001331.2:c.*12C>G;ESP6500_MAF=24.6628,43.7358,31.1241;ESP6500_TAC=4048,8958	GT:AD:DP:GQ:PL	0/1:14,12:26:99:415,0,514
chr3	10338239	rs35678	C	T	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.506;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.219;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=-1.718;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35678;dbSNPBuildID=76;ANN=T|synonymous_variant|LOW|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|22/23|c.3357G>A|p.Ala1119Ala|3796/8962|3357/3732|1119/1243||,T|synonymous_variant|LOW|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|19/20|c.3222G>A|p.Ala1074Ala|3661/8827|3222/3597|1074/1198||;p3_1000G_AA=C|||;p3_1000G_AC=2844;p3_1000G_AF=0.567891;p3_1000G_AFR_AF=0.5953;p3_1000G_AMR_AF=0.6455;p3_1000G_AN=5008;p3_1000G_DP=17377;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.4274;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10379923;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2365,2041;ESP6500_AA_AGE=610.9+/-391.7;ESP6500_AA_GTC=649,1067,487;ESP6500_CDS_SIZES=NM_001683.3:3597,NM_001001331.2:3732;ESP6500_CG=-9.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_76;ESP6500_DP=72;ESP6500_EA_AC=3570,5030;ESP6500_EA_AGE=516.8+/-378.9;ESP6500_EA_GTC=755,2060,1485;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001683.3:coding-synonymous,NM_001001331.2:coding-synonymous;ESP6500_GL=ATP2B2;ESP6500_GRCh38_POSITION=3:10338239;ESP6500_GTC=1404,3127,1972;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001683.3:c.3222G>A,NM_001001331.2:c.3357G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001683.3:p.(A1074),NM_001001331.2:p.(A1119);ESP6500_MAF=41.5116,46.3232,45.6328;ESP6500_TAC=5935,7071	GT:AD:DP:GQ:PL	0/1:24,16:40:99:324,0,668
chr3	10340100	rs154243	A	G	820.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.62;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs154243;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|21/22|c.3237+142T>C||||||,G|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|18/19|c.3102+142T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4106;p3_1000G_AF=0.819888;p3_1000G_AFR_AF=0.7716;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=17115;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.6292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10381784;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:849,63,0
chr3	10340427	rs171337	T	C	2207.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.33;SOR=0.728;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs171337;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|20/22|c.3129+66A>G||||||,C|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|17/19|c.2994+66A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3801;p3_1000G_AF=0.758986;p3_1000G_AFR_AF=0.7436;p3_1000G_AMR_AF=0.7378;p3_1000G_AN=5008;p3_1000G_DP=15652;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.5865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10382111;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2236,171,0
chr3	10340464	rs154242	G	A	2158.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=63;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.27;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs154242;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|20/22|c.3129+29C>T||||||,A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|17/19|c.2994+29C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3799;p3_1000G_AF=0.758586;p3_1000G_AFR_AF=0.7443;p3_1000G_AMR_AF=0.7363;p3_1000G_AN=5008;p3_1000G_DP=16475;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.5845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10382148;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8425;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2995,1411;ESP6500_AA_AGE=458.4+/-352.0;ESP6500_AA_GTC=1043,909,251;ESP6500_CDS_SIZES=NM_001683.3:3597,NM_001001331.2:3732;ESP6500_CG=-6.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=46;ESP6500_EA_AC=5001,3599;ESP6500_EA_AGE=517.6+/-379.1;ESP6500_EA_GTC=1475,2051,774;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001683.3:intron,NM_001001331.2:intron;ESP6500_GL=ATP2B2;ESP6500_GRCh38_POSITION=3:10340464;ESP6500_GTC=2518,2960,1025;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001683.3:c.2994+29C>T,NM_001001331.2:c.3129+29C>T;ESP6500_MAF=41.8488,32.0245,38.5207;ESP6500_TAC=7996,5010	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2187,189,0
chr3	10345375	rs241509	C	A	625.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.224;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.714;SOR=0.698;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs241509;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|18/22|c.2703+9G>T||||||,A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|15/19|c.2568+9G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2037;p3_1000G_AF=0.406749;p3_1000G_AFR_AF=0.1104;p3_1000G_AMR_AF=0.5519;p3_1000G_AN=5008;p3_1000G_DP=18536;p3_1000G_EAS_AF=0.497;p3_1000G_EUR_AF=0.4404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10387059;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5767;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=632,3774;ESP6500_AA_AGE=767.1+/-413.5;ESP6500_AA_GTC=50,532,1621;ESP6500_CDS_SIZES=NM_001683.3:3597,NM_001001331.2:3732;ESP6500_CG=1.4;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=63;ESP6500_EA_AC=3674,4926;ESP6500_EA_AGE=622.0+/-397.3;ESP6500_EA_GTC=812,2050,1438;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001683.3:intron,NM_001001331.2:intron;ESP6500_GL=ATP2B2;ESP6500_GRCh38_POSITION=3:10345375;ESP6500_GTC=862,2582,3059;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001683.3:c.2568+9G>T,NM_001001331.2:c.2703+9G>T;ESP6500_MAF=42.7209,14.3441,33.1078;ESP6500_TAC=4306,8700	GT:AD:DP:GQ:PL	0/1:35,24:59:99:654,0,995
chr3	10358959	rs28113	G	A	804.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.19;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28113;dbSNPBuildID=76;ANN=A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|13/22|c.1902-34C>T||||||,A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|10/19|c.1767-34C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3392;p3_1000G_AF=0.677316;p3_1000G_AFR_AF=0.4092;p3_1000G_AMR_AF=0.6902;p3_1000G_AN=5008;p3_1000G_DP=18581;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.5785;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10400643;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8497;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1653,2751;ESP6500_AA_GTC=317,1019,866;ESP6500_CDS_SIZES=NM_001683.3:3597,NM_001001331.2:3732;ESP6500_CG=-6.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_76;ESP6500_DP=17;ESP6500_EA_AC=4823,3771;ESP6500_EA_GTC=1400,2023,874;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001683.3:intron,NM_001001331.2:intron;ESP6500_GL=ATP2B2;ESP6500_GRCh38_POSITION=3:10358959;ESP6500_GTC=1717,3042,1740;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001683.3:c.1767-34C>T,NM_001001331.2:c.1902-34C>T;ESP6500_MAF=43.8795,37.5341,49.823;ESP6500_TAC=6476,6522	GT:AD:DP:GQ:PL	1/1:0,25:25:75:833,75,0
chr3	10360172	rs2278554	G	T	332.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2278554;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|12/22|c.1660-49C>A||||||,T|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|9/19|c.1525-49C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2017;p3_1000G_AF=0.402756;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.5461;p3_1000G_AN=5008;p3_1000G_DP=12971;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.3777;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10401856;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5419;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=658,3654;ESP6500_AA_GTC=62,534,1560;ESP6500_CDS_SIZES=NM_001683.3:3597,NM_001001331.2:3732;ESP6500_CG=2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=10;ESP6500_EA_AC=2978,5484;ESP6500_EA_GTC=561,1856,1814;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001683.3:intron,NM_001001331.2:intron;ESP6500_GL=ATP2B2;ESP6500_GRCh38_POSITION=3:10360172;ESP6500_GTC=623,2390,3374;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001683.3:c.1525-49C>A,NM_001001331.2:c.1660-49C>A;ESP6500_MAF=35.1926,15.2597,28.4641;ESP6500_TAC=3636,9138	GT:AD:DP:GQ:PL	1/1:0,10:10:30:361,30,0
chr3	10378172	rs56113011	C	G	805.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.36;SOR=2.4;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs56113011;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|10/22|c.1201+80G>C||||||,G|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|7/19|c.1066+80G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1117;p3_1000G_AF=0.223043;p3_1000G_AFR_AF=0.0477;p3_1000G_AMR_AF=0.2075;p3_1000G_AN=5008;p3_1000G_DP=19545;p3_1000G_EAS_AF=0.377;p3_1000G_EUR_AF=0.2237;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10419856;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3119;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:834,69,0
chr3	10378403	rs751122	T	C	1102.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.43;SOR=0.811;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs751122;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|10/23|c.1050A>G|p.Gln350Gln|1489/8962|1050/3732|350/1243||,C|synonymous_variant|LOW|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|7/20|c.915A>G|p.Gln305Gln|1354/8827|915/3597|305/1198||;p3_1000G_AA=C|||;p3_1000G_AC=2470;p3_1000G_AF=0.493211;p3_1000G_AFR_AF=0.4418;p3_1000G_AMR_AF=0.317;p3_1000G_AN=5008;p3_1000G_DP=20457;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.3708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10420087;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6012;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1731,2675;ESP6500_AA_AGE=643.1+/-397.8;ESP6500_AA_GTC=338,1055,810;ESP6500_CDS_SIZES=NM_001683.3:3597,NM_001001331.2:3732;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=54;ESP6500_EA_AC=2964,5636;ESP6500_EA_AGE=658.6+/-401.6;ESP6500_EA_GTC=506,1952,1842;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001683.3:coding-synonymous,NM_001001331.2:coding-synonymous;ESP6500_GL=ATP2B2;ESP6500_GRCh38_POSITION=3:10378403;ESP6500_GTC=844,3007,2652;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001683.3:c.915A>G,NM_001001331.2:c.1050A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001683.3:p.(Q305),NM_001001331.2:p.(Q350);ESP6500_MAF=34.4651,39.2873,36.0987;ESP6500_TAC=4695,8311	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1131,102,0
chr3	10379191	rs4684686	G	A	870.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=3.69;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4684686;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|9/22|c.1042+52C>T||||||,A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|6/19|c.908-781C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2055;p3_1000G_AF=0.410343;p3_1000G_AFR_AF=0.3381;p3_1000G_AMR_AF=0.3329;p3_1000G_AN=5008;p3_1000G_DP=18432;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.2714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10420875;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1153,1983;ESP6500_AA_GTC=218,717,633;ESP6500_CDS_SIZES=NM_001683.3:3597,NM_001001331.2:3732;ESP6500_CG=-7.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=29;ESP6500_EA_AC=1899,5265;ESP6500_EA_GTC=270,1359,1953;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001683.3:intron,NM_001001331.2:intron;ESP6500_GL=ATP2B2;ESP6500_GRCh38_POSITION=3:10379191;ESP6500_GTC=488,2076,2586;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001683.3:c.908-781C>T,NM_001001331.2:c.1042+52C>T;ESP6500_MAF=26.5075,36.7666,29.6311;ESP6500_TAC=3052,7248	GT:AD:DP:GQ:PL	1/1:0,27:27:81:899,81,0
chr3	10379423	rs7616000	A	G	931.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.3;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7616000;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|8/22|c.1001-139T>C||||||,G|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|6/19|c.908-1013T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1816;p3_1000G_AF=0.36262;p3_1000G_AFR_AF=0.4599;p3_1000G_AMR_AF=0.2637;p3_1000G_AN=5008;p3_1000G_DP=17480;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10421107;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:960,78,0
chr3	10385506	rs725027	C	T	198.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs725027;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|7/22|c.941-179G>A||||||,T|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|6/19|c.907+2771G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3298;p3_1000G_AF=0.658546;p3_1000G_AFR_AF=0.708;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=20066;p3_1000G_EAS_AF=0.9712;p3_1000G_EUR_AF=0.4036;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10427190;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0
chr3	10400855	rs17032820	A	G	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.85;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.77;ReadPosRankSum=0.928;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17032820;dbSNPBuildID=123;ANN=G|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|5/22|c.781+98T>C||||||,G|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|5/19|c.781+98T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=890;p3_1000G_AF=0.177716;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=20605;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10442539;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,10:14:99:347,0,114
chr3	10410547	rs34907	G	A	522.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.67;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs34907;dbSNPBuildID=76;ANN=A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001001331.2|protein_coding|3/22|c.397+71C>T||||||,A|intron_variant|MODIFIER|ATP2B2|ATP2B2|transcript|NM_001683.3|protein_coding|3/19|c.397+71C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2809;p3_1000G_AF=0.560903;p3_1000G_AFR_AF=0.3714;p3_1000G_AMR_AF=0.4164;p3_1000G_AN=5008;p3_1000G_DP=16855;p3_1000G_EAS_AF=0.9643;p3_1000G_EUR_AF=0.4046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=10452231;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:551,48,0
chr3	11020376	rs3774070	C	T	565.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.984;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.436;SOR=0.789;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3774070;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|SLC6A1-AS1|SLC6A1-AS1|transcript|NR_046647.1|pseudogene||n.-1152G>A|||||1152|,T|intron_variant|MODIFIER|SLC6A1|SLC6A1|transcript|NM_003042.3|protein_coding|6/15|c.581+54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1055;p3_1000G_AF=0.210663;p3_1000G_AFR_AF=0.4554;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=18604;p3_1000G_EAS_AF=0.131;p3_1000G_EUR_AF=0.0696;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11062062;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1912;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,21:35:99:594,0,333
chr3	11025897	rs35736058	G	T	536.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.337;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.182;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35736058;dbSNPBuildID=127;ANN=T|intron_variant|MODIFIER|SLC6A1|SLC6A1|transcript|NM_003042.3|protein_coding|9/15|c.953+21G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=82;p3_1000G_AF=0.0163738;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16571;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11067583;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_003042.3:1800;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=48;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=2.2+/-6.3;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003042.3:intron;ESP6500_GL=SLC6A1;ESP6500_GRCh38_POSITION=3:11025897;ESP6500_GTC=0,2,6501;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_003042.3:c.953+21G>T;ESP6500_MAF=0.0233,0.0,0.0154;ESP6500_TAC=2,13004	GT:AD:DP:GQ:PL	0/1:13,25:38:99:565,0,403
chr3	11028856	rs11290120;rs3841958;rs540183945;~rs3841958	GC	G	24.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.233;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.812;SOR=2.419;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11290120,rs3841958;dbSNPBuildID=107,127;ANN=G|intron_variant|MODIFIER|SLC6A1|SLC6A1|transcript|NM_003042.3|protein_coding|11/15|c.1191+17delC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1277;p3_1000G_AF=0.254992;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=14578;p3_1000G_EAS_AF=0.3482;p3_1000G_EUR_AF=0.0338;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11070542;p3_1000G_GRCH37_REF=GC;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=INDEL;ESP6500_AA_AC=80,402,1835,1949;ESP6500_AA_GTC=0,9,32,39,13,163,204,399,842,432;ESP6500_CDS_SIZES=NM_003042.3:1800,NM_003042.3:1800,NM_003042.3:1800;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=28;ESP6500_EA_AC=2,59,452,7741;ESP6500_EA_GTC=0,0,0,2,0,1,58,6,439,3621;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003042.3:intron,NM_003042.3:intron,NM_003042.3:intron;ESP6500_GL=SLC6A1;ESP6500_GRCh38_POSITION=3:11028856;ESP6500_GTC=0,9,32,41,13,164,262,405,1281,4053;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_003042.3:c.1191+10del1,NM_003042.3:c.1191+9_1191+10insC,NM_003042.3:c.1191+9_1191+10insCC;ESP6500_MAF=6.2152,54.3132,22.6038;ESP6500_TAC=82,461,2287,9690	GT:AD:DP:GQ:PL	0/1:7,3:10:62:62,0,183
chr3	11028901	rs113688609	C	T	63.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.732;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=2.1;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs113688609;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|SLC6A1|SLC6A1|transcript|NM_003042.3|protein_coding|11/15|c.1191+54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=157;p3_1000G_AF=0.0313498;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.0072;p3_1000G_AN=5008;p3_1000G_DP=14620;p3_1000G_EAS_AF=0.0427;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11070587;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:92:92,0,192
chr3	11033817	rs2246543	T	C	536.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2246543;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SLC6A1|SLC6A1|transcript|NM_003042.3|protein_coding|14/15|c.1527+78T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3497;p3_1000G_AF=0.698283;p3_1000G_AFR_AF=0.9289;p3_1000G_AMR_AF=0.513;p3_1000G_AN=5008;p3_1000G_DP=19288;p3_1000G_EAS_AF=0.8056;p3_1000G_EUR_AF=0.501;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11075503;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6104;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,15:15:45:1|1:11033809_G_T:565,45,0
chr3	11034650	rs2272401;475475	C	T	135.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=7.346;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=0.813;SOR=2.572;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272401;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|SLC6A1|SLC6A1|transcript|NM_003042.3|protein_coding|15/16|c.1647C>T|p.Pro549Pro|2058/4494|1647/1800|549/599||;p3_1000G_AA=C|||;p3_1000G_AC=47;p3_1000G_AF=0.00938498;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17722;p3_1000G_EAS_AF=0.0417;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11076336;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0041;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_003042.3:1800;ESP6500_CG=-7.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=146;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003042.3:coding-synonymous;ESP6500_GL=SLC6A1;ESP6500_GRCh38_POSITION=3:11034650;ESP6500_GTC=0,1,6502;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003042.3:c.1647C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003042.3:p.(P549);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_TAC=1,13005;CLINVAR_ALLELEID=452160;CLINVAR_CLNDISDB=MedGen:C4085238,OMIM:616421;CLINVAR_CLNDN=Myoclonic-atonic_epilepsy;CLINVAR_CLNHGVS=NC_000003.12:g.11034650C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SLC6A1:6529;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2272401	GT:AD:DP:GQ:PL	0/1:21,7:28:99:164,0,561
chr3	11259021	rs901865	T	C	1384.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.82;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs901865;dbSNPBuildID=92;ANN=C|5_prime_UTR_variant|MODIFIER|HRH1|HRH1|transcript|NM_000861.3|protein_coding|3/3|c.-17T>C|||||17|,C|5_prime_UTR_variant|MODIFIER|HRH1|HRH1|transcript|NM_001098213.1|protein_coding|2/2|c.-17T>C|||||17|,C|5_prime_UTR_variant|MODIFIER|HRH1|HRH1|transcript|NM_001098212.1|protein_coding|2/2|c.-17T>C|||||17|,C|5_prime_UTR_variant|MODIFIER|HRH1|HRH1|transcript|NM_001098211.1|protein_coding|2/2|c.-17T>C|||||17|;p3_1000G_AA=C|||;p3_1000G_AC=4122;p3_1000G_AF=0.823083;p3_1000G_AFR_AF=0.6664;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=20458;p3_1000G_EAS_AF=0.9117;p3_1000G_EUR_AF=0.8091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11300707;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3020,1386;ESP6500_AA_AGE=452.2+/-349.9;ESP6500_AA_GTC=1043,934,226;ESP6500_CDS_SIZES=NM_001098213.1:1464,NM_001098212.1:1464,NM_001098211.1:1464,NM_000861.3:1464;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=40;ESP6500_EA_AC=7103,1497;ESP6500_EA_AGE=279.9+/-294.2;ESP6500_EA_GTC=2953,1197,150;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001098213.1:utr-5,NM_001098212.1:utr-5,NM_001098211.1:utr-5,NM_000861.3:utr-5;ESP6500_GL=HRH1;ESP6500_GRCh38_POSITION=3:11259021;ESP6500_GTC=3996,2131,376;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001098213.1:c.-17T>C,NM_001098212.1:c.-17T>C,NM_001098211.1:c.-17T>C,NM_000861.3:c.-17T>C;ESP6500_MAF=17.407,31.4571,22.1667;ESP6500_TAC=10123,2883	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1413,108,0
chr3	11309079	rs2305686	C	T	432.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.152;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=2.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=-0.114;SOR=0.985;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305686;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_006395.2|protein_coding|5/18|c.411+18C>T||||||,T|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_001136031.2|protein_coding|5/17|c.411+18C>T||||||,T|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_001144912.1|protein_coding|5/16|c.411+18C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1344;p3_1000G_AF=0.268371;p3_1000G_AFR_AF=0.1921;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=22310;p3_1000G_EAS_AF=0.2877;p3_1000G_EUR_AF=0.175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11350553;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3609;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=786,3620;ESP6500_AA_AGE=316.9+/-294.8;ESP6500_AA_GTC=58,670,1475;ESP6500_CDS_SIZES=NM_006395.2:2112,NM_001144912.1:1872,NM_001136031.2:2031;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=157;ESP6500_EA_AC=1339,7261;ESP6500_EA_AGE=263.0+/-284.7;ESP6500_EA_GTC=107,1125,3068;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006395.2:intron,NM_001144912.1:intron,NM_001136031.2:intron;ESP6500_GL=ATG7;ESP6500_GRCh38_POSITION=3:11309079;ESP6500_GTC=165,1795,4543;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006395.2:c.411+18C>T,NM_001144912.1:c.411+18C>T,NM_001136031.2:c.411+18C>T;ESP6500_MAF=15.5698,17.8393,16.3386;ESP6500_TAC=2125,10881	GT:AD:DP:GQ:PL	0/1:39,23:62:99:461,0,904
chr3	11340499	rs3816380	A	C	47.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.674;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816380;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_006395.2|protein_coding|9/18|c.890-146A>C||||||,C|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_001136031.2|protein_coding|9/17|c.890-146A>C||||||,C|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_001144912.1|protein_coding|8/16|c.773-146A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1361;p3_1000G_AF=0.271765;p3_1000G_AFR_AF=0.2035;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=19066;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11381973;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3548;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:68:76,0,68
chr3	11477281	rs4684782	T	C	433.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.98;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4684782;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_006395.2|protein_coding|18/18|c.2079+50355T>C||||||,C|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_001136031.2|protein_coding|17/17|c.1998+50355T>C||||||,C|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_001144912.1|protein_coding|16/16|c.1840-77530T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=2460;p3_1000G_AF=0.491214;p3_1000G_AFR_AF=0.3003;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=17516;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.5815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11518755;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5102;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:462,42,0
chr3	11510382	rs369095431	TA	T	14.87	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.093;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=-1.335;SOR=0.048;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369095431;dbSNPBuildID=138;ANN=T|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_006395.2|protein_coding|18/18|c.2080-44414delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_001136031.2|protein_coding|17/17|c.1999-44414delA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|ATG7|ATG7|transcript|NM_001144912.1|protein_coding|16/16|c.1840-44414delA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:8,4:12:52:52,0,163
chr3	11564405	rs3839099	A	AC	194.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.198;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.845;SOR=0.446;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3839099;dbSNPBuildID=107;ANN=AC|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001128219.2|protein_coding|3/4|c.495+391dupG||||||,AC|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001128221.2|protein_coding|2/3|c.225+391dupG||||||,AC|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001128220.2|protein_coding|2/3|c.237+391dupG||||||,AC|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001284391.1|protein_coding|3/4|c.300+391dupG||||||,AC|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001284390.1|protein_coding|5/6|c.492+391dupG||||||,AC|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_014667.3|protein_coding|4/5|c.477+391dupG||||||;p3_1000G_AA=?|CCCCCCC|CCCCCCCC|unsure;p3_1000G_AC=3091;p3_1000G_AF=0.617212;p3_1000G_AFR_AF=0.444;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=12930;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.7316;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11605879;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6483;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,9:14:99:232,0,109
chr3	11601991	rs2276749	T	C	922.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=2.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276749;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|VGLL4|VGLL4|transcript|NM_001128219.2|protein_coding|2/5|c.114A>G|p.Ile38Met|573/3839|114/891|38/296||,C|missense_variant|MODERATE|VGLL4|VGLL4|transcript|NM_001284390.1|protein_coding|4/7|c.111A>G|p.Ile37Met|617/3883|111/888|37/295||,C|missense_variant|MODERATE|VGLL4|VGLL4|transcript|NM_014667.3|protein_coding|3/6|c.96A>G|p.Ile32Met|484/3750|96/873|32/290||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|VGLL4|VGLL4|transcript|NM_001284391.1|protein_coding|2/5|c.-82A>G||||||,C|5_prime_UTR_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001284391.1|protein_coding|2/5|c.-82A>G|||||82|;p3_1000G_AA=C|||;p3_1000G_AC=4655;p3_1000G_AF=0.929513;p3_1000G_AFR_AF=0.9955;p3_1000G_AMR_AF=0.8862;p3_1000G_AN=5008;p3_1000G_DP=13169;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.9543;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11643465;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8303;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4357,49;ESP6500_AA_AGE=50.2+/-85.5;ESP6500_AA_GTC=2154,49,0;ESP6500_CDS_SIZES=NM_014667.2:873,NM_001128219.1:891;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=50;ESP6500_EA_AC=8185,415;ESP6500_EA_AGE=129.2+/-187.3;ESP6500_EA_GTC=3893,399,8;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014667.2:missense,NM_001128219.1:missense;ESP6500_GL=VGLL4;ESP6500_GRCh38_POSITION=3:11601991;ESP6500_GS=10,10;ESP6500_GTC=6047,448,8;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014667.2:c.96A>G,NM_001128219.1:c.114A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014667.2:p.(I32M),NM_001128219.1:p.(I38M);ESP6500_MAF=4.8256,1.1121,3.5676;ESP6500_PH=benign:0.002,benign:0.002;ESP6500_TAC=12542,464	GT:AD:DP:GQ:PL	1/1:0,27:27:81:951,81,0
chr3	11626240	rs3856802	C	T	102.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=0.084;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3856802;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001128219.2|protein_coding|1/4|c.82+17197G>A||||||,T|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001284390.1|protein_coding|3/6|c.80-24218G>A||||||,T|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_014667.3|protein_coding|2/5|c.65-24218G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1582;p3_1000G_AF=0.315895;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=18354;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.5149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11667714;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,4:6:65:131,0,65
chr3	11643669	rs34152653	T	TA	57.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-1.529;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34152653;dbSNPBuildID=126;ANN=TA|5_prime_UTR_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001128219.2|protein_coding|1/5|c.-152dupT|||||152|,TA|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001284390.1|protein_coding|3/6|c.79+27592dupT||||||,TA|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_014667.3|protein_coding|2/5|c.65-41648dupT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2104;p3_1000G_AF=0.420128;p3_1000G_AFR_AF=0.4077;p3_1000G_AMR_AF=0.4352;p3_1000G_AN=5008;p3_1000G_DP=18040;p3_1000G_EAS_AF=0.5;p3_1000G_EUR_AF=0.4573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11685143;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:7,5:12:95:95,0,147
chr3	11703070	rs11411195;rs7627336	G	GA	211.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.47;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11411195,rs7627336;dbSNPBuildID=130;ANN=GA|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001284390.1|protein_coding|1/6|c.-131-24dupT||||||,GA|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_014667.3|protein_coding|1/5|c.-13-24dupT||||||;p3_1000G_AA=AAAAAAA|AAAAAA|AAAAAAA|deletion;p3_1000G_AC=3426;p3_1000G_AF=0.684105;p3_1000G_AFR_AF=0.8283;p3_1000G_AMR_AF=0.7262;p3_1000G_AN=5008;p3_1000G_DP=17946;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.6869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11744544;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6002;p3_1000G_VT=INDEL;ESP6500_AA_AC=3474,788;ESP6500_AA_GTC=1418,638,75;ESP6500_CDS_SIZES=NM_014667.2:873;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=23;ESP6500_EA_AC=5672,2578;ESP6500_EA_GTC=1927,1818,380;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014667.2:intron;ESP6500_GL=VGLL4;ESP6500_GRCh38_POSITION=3:11703070;ESP6500_GTC=3345,2456,455;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_014667.2:c.-37_-36insT;ESP6500_MAF=31.2485,18.489,26.9022;ESP6500_TAC=9146,3366	GT:AD:DP:GQ:PL	1/1:0,8:8:24:249,24,0
chr3	11703110	rs6781438	C	T	45.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.645;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.524;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6781438;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_001284390.1|protein_coding|1/6|c.-131-63G>A||||||,T|intron_variant|MODIFIER|VGLL4|VGLL4|transcript|NM_014667.3|protein_coding|1/5|c.-13-63G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1879;p3_1000G_AF=0.3752;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.3963;p3_1000G_AN=5008;p3_1000G_DP=19285;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11744584;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:71:74,0,71
chr3	11839342	rs303862	C	A	621.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.72;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs303862;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|TAMM41|TAMM41|transcript|NM_001284401.1|protein_coding|2/7|c.319-28G>T||||||,A|intron_variant|MODIFIER|TAMM41|TAMM41|transcript|NM_001321294.1|protein_coding|3/8|c.196-28G>T||||||,A|intron_variant|MODIFIER|TAMM41|TAMM41|transcript|NM_001321295.1|protein_coding|3/9|c.-329-28G>T||||||,A|intron_variant|MODIFIER|TAMM41|TAMM41|transcript|NM_138807.3|protein_coding|2/6|c.319-28G>T||||||,A|intron_variant|MODIFIER|TAMM41|TAMM41|transcript|NR_104314.1|pseudogene|2/9|n.602-28G>T||||||,A|intron_variant|MODIFIER|TAMM41|TAMM41|transcript|NR_135609.1|pseudogene|3/11|n.808-28G>T||||||,A|intron_variant|MODIFIER|TAMM41|TAMM41|transcript|NR_135610.1|pseudogene|3/10|n.808-28G>T||||||,A|intron_variant|MODIFIER|TAMM41|TAMM41|transcript|NR_135611.1|pseudogene|2/8|n.602-28G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2734;p3_1000G_AF=0.545927;p3_1000G_AFR_AF=0.5756;p3_1000G_AMR_AF=0.5043;p3_1000G_AN=5008;p3_1000G_DP=19946;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.5467;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11880816;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2553,1853;ESP6500_AA_AGE=515.0+/-368.8;ESP6500_AA_GTC=729,1095,379;ESP6500_CDS_SIZES=NM_138807.2:951;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=43;ESP6500_EA_AC=4682,3918;ESP6500_EA_AGE=526.6+/-381.0;ESP6500_EA_GTC=1258,2166,876;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138807.2:intron;ESP6500_GL=TAMM41;ESP6500_GRCh38_POSITION=3:11839342;ESP6500_GTC=1987,3261,1255;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_138807.2:c.319-28G>T;ESP6500_MAF=45.5581,42.0563,44.3718;ESP6500_TAC=7235,5771	GT:AD:DP:GQ:PL	1/1:0,19:19:57:650,57,0
chr3	11860688	rs34235529	G	A	58.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.412;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=50.75;MQRankSum=-0.686;QD=3.92;ReadPosRankSum=1.14;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34235529;dbSNPBuildID=126;ANN=A|intergenic_region|MODIFIER|TAMM41-SYN2|TAMM41-SYN2|intergenic_region|TAMM41-SYN2|||n.11860688G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1112;p3_1000G_AF=0.222045;p3_1000G_AFR_AF=0.2995;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=19406;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11902162;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,5:15:87:87,0,346
chr3	11871323	rs445387	C	T	662.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.932;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.065;MLEAC=1;MLEAF=0.5;MQ=50.27;MQRankSum=-6.429;QD=12.51;ReadPosRankSum=0.758;SOR=0.481;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62246062;dbSNPBuildID=80;ANN=T|intergenic_region|MODIFIER|TAMM41-SYN2|TAMM41-SYN2|intergenic_region|TAMM41-SYN2|||n.11871323C>T||||||;p3_1000G_AA=t|||;p3_1000G_AC=3016;p3_1000G_AF=0.602236;p3_1000G_AFR_AF=0.6778;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=16564;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.6193;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11912797;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5716;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,28:53:99:691,0,638
chr3	11883139	rs57481387;rs5846732	AG	A	412.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=37.83;QD=34.39;SOR=0.693;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs369394286,rs5846732;dbSNPBuildID=130,129;ANN=A|intergenic_region|MODIFIER|TAMM41-SYN2|TAMM41-SYN2|intergenic_region|TAMM41-SYN2|||n.11883140delG||||||;p3_1000G_AA=G|GG|G|insertion;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=9420;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11924613;p3_1000G_GRCH37_REF=AG;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:36:450,36,0
chr3	11883891	rs3927162	T	A	110.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.335;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=2.077;MLEAC=1;MLEAF=0.5;MQ=58.28;MQRankSum=-1.972;QD=6.15;ReadPosRankSum=-0.515;SOR=1.206;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3927162;dbSNPBuildID=108;ANN=A|intergenic_region|MODIFIER|TAMM41-SYN2|TAMM41-SYN2|intergenic_region|TAMM41-SYN2|||n.11883891T>A||||||;p3_1000G_AA=-|||;p3_1000G_AC=1551;p3_1000G_AF=0.309704;p3_1000G_AFR_AF=0.3487;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=20398;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11925365;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,6:18:99:139,0,361
chr3	11883909	rs3864016	A	G	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.324;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=57.79;MQRankSum=-2.214;QD=3.27;ReadPosRankSum=0.244;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3864016;dbSNPBuildID=108;ANN=G|intergenic_region|MODIFIER|TAMM41-SYN2|TAMM41-SYN2|intergenic_region|TAMM41-SYN2|||n.11883909A>G||||||;p3_1000G_AA=-|||;p3_1000G_AC=1550;p3_1000G_AF=0.309505;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=20725;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11925383;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:15,6:21:97:97,0,461
chr3	11884015	rs2470561	C	T	126.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.103;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.5;MQRankSum=-3.547;QD=7.46;ReadPosRankSum=-1.211;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2470561;dbSNPBuildID=100;ANN=T|intergenic_region|MODIFIER|TAMM41-SYN2|TAMM41-SYN2|intergenic_region|TAMM41-SYN2|||n.11884015C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=2395;p3_1000G_AF=0.478235;p3_1000G_AFR_AF=0.4584;p3_1000G_AMR_AF=0.4957;p3_1000G_AN=5008;p3_1000G_DP=14288;p3_1000G_EAS_AF=0.4206;p3_1000G_EUR_AF=0.5129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11925489;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,6:17:99:155,0,328
chr3	11884071	rs28682978	T	C	76.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.959;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=54.49;MQRankSum=-3.087;QD=6.4;ReadPosRankSum=-1.795;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28682978;dbSNPBuildID=125;ANN=C|intergenic_region|MODIFIER|TAMM41-SYN2|TAMM41-SYN2|intergenic_region|TAMM41-SYN2|||n.11884071T>C||||||;p3_1000G_AA=-|||;p3_1000G_AC=1387;p3_1000G_AF=0.276957;p3_1000G_AFR_AF=0.2867;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=15665;p3_1000G_EAS_AF=0.3869;p3_1000G_EUR_AF=0.1918;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11925545;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.271;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,4:12:99:105,0,236
chr3	11884136	rs421090	C	T	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.637;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.632;MLEAC=1;MLEAF=0.5;MQ=54.74;MQRankSum=-1.55;QD=13.62;ReadPosRankSum=-0.605;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs421090;dbSNPBuildID=80;ANN=T|intergenic_region|MODIFIER|TAMM41-SYN2|TAMM41-SYN2|intergenic_region|TAMM41-SYN2|||n.11884136C>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=2349;p3_1000G_AF=0.46905;p3_1000G_AFR_AF=0.4281;p3_1000G_AMR_AF=0.4928;p3_1000G_AN=5008;p3_1000G_DP=17640;p3_1000G_EAS_AF=0.4196;p3_1000G_EUR_AF=0.5139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=11925610;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5123;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:178,0,145
chr3	12004417	rs79624759	T	C	286.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.27;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs79624759;dbSNPBuildID=131;ANN=C|5_prime_UTR_variant|MODIFIER|SYN2|SYN2|transcript|NM_133625.4|protein_coding|1/13|c.-135T>C|||||135|,C|5_prime_UTR_variant|MODIFIER|SYN2|SYN2|transcript|NM_003178.5|protein_coding|1/11|c.-135T>C|||||135|;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=5673;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12045891;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,7:7:21:1|1:12004417_T_C:315,21,0
chr3	12004425	rs77368781	C	T	324.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.92;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs77368781;dbSNPBuildID=131;ANN=T|5_prime_UTR_variant|MODIFIER|SYN2|SYN2|transcript|NM_133625.4|protein_coding|1/13|c.-127C>T|||||127|,T|5_prime_UTR_variant|MODIFIER|SYN2|SYN2|transcript|NM_003178.5|protein_coding|1/11|c.-127C>T|||||127|;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=5814;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12045899;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:12004417_T_C:353,24,0
chr3	12167152	rs795008	A	G	655.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.63;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs795008;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|SYN2|SYN2|transcript|NM_133625.4|protein_coding|7/12|c.981-82A>G||||||,G|intron_variant|MODIFIER|SYN2|SYN2|transcript|NM_003178.5|protein_coding|7/10|c.981-82A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4988;p3_1000G_AF=0.996006;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20252;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12208652;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:684,54,0
chr3	12167171	rs795009	G	T	697.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.23;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs795009;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SYN2|SYN2|transcript|NM_133625.4|protein_coding|7/12|c.981-63G>T||||||,T|intron_variant|MODIFIER|SYN2|SYN2|transcript|NM_003178.5|protein_coding|7/10|c.981-63G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3608;p3_1000G_AF=0.720447;p3_1000G_AFR_AF=0.6331;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=21018;p3_1000G_EAS_AF=0.6964;p3_1000G_EUR_AF=0.7584;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12208671;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7679;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=864,520;ESP6500_AA_GTC=259,346,87;ESP6500_CDS_SIZES=NM_133625.3:1373,NM_003178.4:1061;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=98;ESP6500_EA_AC=2365,817;ESP6500_EA_GTC=878,609,104;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133625.3:intron,NM_003178.4:intron;ESP6500_GL=SYN2;ESP6500_GRCh38_POSITION=3:12167171;ESP6500_GTC=1137,955,191;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_133625.3:c.605-63G>T,NM_003178.4:c.605-63G>T;ESP6500_MAF=25.6757,37.5723,29.2816;ESP6500_TAC=3229,1337	GT:AD:DP:GQ:PL	1/1:0,21:21:63:726,63,0
chr3	12187515	rs794999	A	G	579.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.99;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs794999;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|SYN2|SYN2|transcript|NM_133625.4|protein_coding|12/13|c.1516A>G|p.Thr506Ala|1708/3348|1516/1749|506/582||,G|downstream_gene_variant|MODIFIER|SYN2|SYN2|transcript|NM_003178.5|protein_coding||c.*4075A>G|||||1783|;p3_1000G_AA=A|||;p3_1000G_AC=3450;p3_1000G_AF=0.688898;p3_1000G_AFR_AF=0.5182;p3_1000G_AMR_AF=0.7853;p3_1000G_AN=5008;p3_1000G_DP=12283;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.7594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12229015;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7689;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2232,1574;ESP6500_AA_GTC=651,930,322;ESP6500_CDS_SIZES=NM_133625.3:1373;ESP6500_CG=2.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=14;ESP6500_EA_AC=6069,1879;ESP6500_EA_GTC=2346,1377,251;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133625.3:missense;ESP6500_GL=SYN2;ESP6500_GRCh38_POSITION=3:12187515;ESP6500_GS=58;ESP6500_GTC=2997,2307,573;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133625.3:c.1140A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133625.3:p.(T506A);ESP6500_MAF=23.6412,41.3558,29.3772;ESP6500_PH=benign:0.002;ESP6500_TAC=8301,3453	GT:AD:DP:GQ:PL	1/1:0,20:20:60:608,60,0
chr3	12190574	rs310764	A	G	1533.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.34;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs310764;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|SYN2|SYN2|transcript|NM_133625.4|protein_coding|13/13|c.1698A>G|p.Ala566Ala|1890/3348|1698/1749|566/582||,G|downstream_gene_variant|MODIFIER|SYN2|SYN2|transcript|NM_003178.5|protein_coding||c.*7134A>G|||||4842|;p3_1000G_AA=G|||;p3_1000G_AC=4813;p3_1000G_AF=0.961062;p3_1000G_AFR_AF=0.9841;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=21684;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9115;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12232074;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3849,97;ESP6500_AA_GTC=1878,93,2;ESP6500_CDS_SIZES=NM_133625.3:1373;ESP6500_CG=-2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=119;ESP6500_EA_AC=7541,823;ESP6500_EA_GTC=3399,743,40;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_133625.3:coding-synonymous;ESP6500_GL=SYN2;ESP6500_GRCh38_POSITION=3:12190574;ESP6500_GTC=5277,836,42;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_133625.3:c.1322A>G;ESP6500_HGVS_PROTEIN_VAR=NM_133625.3:p.(Q566);ESP6500_MAF=9.8398,2.4582,7.4736;ESP6500_TAC=11390,920	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1562,138,0
chr3	12190708	rs310765	T	G	740.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.76;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs310765;dbSNPBuildID=79;ANN=G|3_prime_UTR_variant|MODIFIER|SYN2|SYN2|transcript|NM_133625.4|protein_coding|13/13|c.*83T>G|||||83|,G|downstream_gene_variant|MODIFIER|SYN2|SYN2|transcript|NM_003178.5|protein_coding||c.*7268T>G|||||4976|;p3_1000G_AA=G|||;p3_1000G_AC=4817;p3_1000G_AF=0.961861;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=21650;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9115;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12232208;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9468;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:769,54,0
chr3	12505330	rs138583416	A	G	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.15;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.172;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=1.29;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs138583416;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|TSEN2|TSEN2|transcript|NM_001321278.1|protein_coding|6/11|c.909+99A>G||||||,G|intron_variant|MODIFIER|TSEN2|TSEN2|transcript|NM_001145393.2|protein_coding|5/10|c.831+1546A>G||||||,G|intron_variant|MODIFIER|TSEN2|TSEN2|transcript|NM_001145394.1|protein_coding|7/12|c.732+99A>G||||||,G|intron_variant|MODIFIER|TSEN2|TSEN2|transcript|NM_001321277.1|protein_coding|6/11|c.909+99A>G||||||,G|intron_variant|MODIFIER|TSEN2|TSEN2|transcript|NR_135607.1|pseudogene|6/12|n.1012+99A>G||||||,G|intron_variant|MODIFIER|TSEN2|TSEN2|transcript|NM_001145392.1|protein_coding|6/11|c.909+99A>G||||||,G|intron_variant|MODIFIER|TSEN2|TSEN2|transcript|NM_025265.3|protein_coding|6/11|c.909+99A>G||||||,G|intron_variant|MODIFIER|TSEN2|TSEN2|transcript|NM_001321279.1|protein_coding|5/10|c.831+1546A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17762;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12546829;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:235,0,353
chr3	12575034	rs3773341	G	A	4072.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=128;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.82;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3773341;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|MKRN2|MKRN2|transcript|NM_014160.4|protein_coding|5/7|c.857+28G>A||||||,A|intron_variant|MODIFIER|MKRN2|MKRN2|transcript|NM_001271707.1|protein_coding|4/6|c.728+28G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2490;p3_1000G_AF=0.497204;p3_1000G_AFR_AF=0.6369;p3_1000G_AMR_AF=0.304;p3_1000G_AN=5008;p3_1000G_DP=23091;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.2704;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12616533;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6135;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2395,2011;ESP6500_AA_AGE=560.9+/-380.6;ESP6500_AA_GTC=646,1103,454;ESP6500_CDS_SIZES=NM_014160.3:1251;ESP6500_CG=-8.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=38;ESP6500_EA_AC=2417,6183;ESP6500_EA_AGE=697.9+/-405.0;ESP6500_EA_GTC=353,1711,2236;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014160.3:intron;ESP6500_GL=MKRN2;ESP6500_GRCh38_POSITION=3:12575034;ESP6500_GTC=999,2814,2690;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014160.3:c.857+28G>A;ESP6500_MAF=28.1047,45.6423,36.9983;ESP6500_TAC=4812,8194	GT:AD:DP:GQ:PL	1/1:0,128:128:99:4101,383,0
chr3	12576763	rs9855183	C	T	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.657;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.575;SOR=0.593;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9855183;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|MKRN2|MKRN2|transcript|NM_014160.4|protein_coding|6/7|c.968+22C>T||||||,T|intron_variant|MODIFIER|MKRN2|MKRN2|transcript|NM_001271707.1|protein_coding|5/6|c.839+22C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=823;p3_1000G_AF=0.164337;p3_1000G_AFR_AF=0.4357;p3_1000G_AMR_AF=0.072;p3_1000G_AN=5008;p3_1000G_DP=17020;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0.1064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12618262;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0613;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1692,2714;ESP6500_AA_AGE=511.4+/-367.8;ESP6500_AA_GTC=339,1014,850;ESP6500_CDS_SIZES=NM_014160.3:1251;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=87;ESP6500_EA_AC=826,7774;ESP6500_EA_AGE=190.7+/-237.1;ESP6500_EA_GTC=34,758,3508;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014160.3:intron;ESP6500_GL=MKRN2;ESP6500_GRCh38_POSITION=3:12576763;ESP6500_GTC=373,1772,4358;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014160.3:c.968+22C>T;ESP6500_MAF=9.6047,38.4022,19.3603;ESP6500_TAC=2518,10488	GT:AD:DP:GQ:PL	0/1:14,13:27:99:295,0,341
chr3	12585017	rs3729931;40624	G	A	733.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.137;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=3.305;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.973;SOR=0.613;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3729931;dbSNPBuildID=107;ANN=A|downstream_gene_variant|MODIFIER|MKRN2|MKRN2|transcript|NM_014160.4|protein_coding||c.*2764G>A|||||1306|,A|downstream_gene_variant|MODIFIER|MKRN2|MKRN2|transcript|NM_001271707.1|protein_coding||c.*2764G>A|||||1306|,A|intron_variant|MODIFIER|RAF1|RAF1|transcript|NM_002880.3|protein_coding|15/16|c.1669-36C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1826;p3_1000G_AF=0.364617;p3_1000G_AFR_AF=0.6475;p3_1000G_AMR_AF=0.4683;p3_1000G_AN=5008;p3_1000G_DP=19622;p3_1000G_EAS_AF=0.0575;p3_1000G_EUR_AF=0.3767;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12626516;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2127;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2613,1793;ESP6500_AA_AGE=526.7+/-371.9;ESP6500_AA_GTC=761,1091,351;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21348951;ESP6500_CDS_SIZES=NM_002880.3:1947;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=48;ESP6500_EA_AC=3141,5459;ESP6500_EA_AGE=655.2+/-401.2;ESP6500_EA_GTC=559,2023,1718;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002880.3:intron;ESP6500_GL=RAF1;ESP6500_GRCh38_POSITION=3:12585017;ESP6500_GTC=1320,3114,2069;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21348951;ESP6500_HGVS_CDNA_VAR=NM_002880.3:c.1669-36C>T;ESP6500_MAF=36.5233,40.6945,44.2411;ESP6500_TAC=5754,7252;CLINVAR_AF_ESP=0.4424;CLINVAR_AF_EXAC=0.35043;CLINVAR_AF_TGP=0.3646;CLINVAR_ALLELEID=49094;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.12585017G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RAF1:5894;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3729931	GT:AD:DP:GQ:PL	0/1:35,32:67:99:762,0,1112
chr3	12587421	rs2290159	G	C	311.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.72;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.98;ReadPosRankSum=2.84;SOR=3.816;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290159;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|MKRN2|MKRN2|transcript|NM_014160.4|protein_coding||c.*5168G>C|||||3710|,C|downstream_gene_variant|MODIFIER|MKRN2|MKRN2|transcript|NM_001271707.1|protein_coding||c.*5168G>C|||||3710|,C|intron_variant|MODIFIER|RAF1|RAF1|transcript|NM_002880.3|protein_coding|13/16|c.1417+170C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=893;p3_1000G_AF=0.178315;p3_1000G_AFR_AF=0.3207;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=19196;p3_1000G_EAS_AF=0.0308;p3_1000G_EUR_AF=0.2167;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12628920;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:88:340,0,88
chr3	12599926	rs5746223	T	C	88.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.534;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.8;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs5746223;dbSNPBuildID=114;ANN=C|intron_variant|MODIFIER|RAF1|RAF1|transcript|NM_002880.3|protein_coding|9/16|c.991-118A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=629;p3_1000G_AF=0.125599;p3_1000G_AFR_AF=0.2542;p3_1000G_AMR_AF=0.1254;p3_1000G_AN=5008;p3_1000G_DP=19626;p3_1000G_EAS_AF=0.0298;p3_1000G_EUR_AF=0.1113;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12641425;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:91:117,0,91
chr3	12608983	rs2454440	T	A	699.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.32;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2454440;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|RAF1|RAF1|transcript|NM_002880.3|protein_coding|4/16|c.424-60A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=20125;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12650482;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:728,63,0
chr3	12609348	rs202103447;44625	T	TA	235.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.75;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.58;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.163;SOR=0.934;INS;HET;VARTYPE=INS;dbSNP138_ID=rs202103447;dbSNPBuildID=137;ANN=TA|intron_variant|MODIFIER|RAF1|RAF1|transcript|NM_002880.3|protein_coding|3/16|c.321-14dupT||||||;p3_1000G_AA=AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion;p3_1000G_AC=94;p3_1000G_AF=0.01877;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0101;p3_1000G_AN=5008;p3_1000G_DP=17126;p3_1000G_EAS_AF=0.0823;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12650847;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=INDEL;ESP6500_AA_AC=2,4264;ESP6500_AA_GTC=0,2,2131;ESP6500_CDS_SIZES=NM_002880.3:1947;ESP6500_CG=-0.1;ESP6500_CP=0.1;ESP6500_DP=66;ESP6500_EA_AC=5,8249;ESP6500_EA_GTC=0,5,4122;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002880.3:intron;ESP6500_GL=RAF1;ESP6500_GRCh38_POSITION=3:12609348;ESP6500_GTC=0,7,6253;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_002880.3:c.321-14_321-13insT;ESP6500_MAF=0.0606,0.0469,0.0559;ESP6500_TAC=7,12513;CLINVAR_ALLELEID=53792;CLINVAR_CLNDISDB=MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C0175704,Orphanet:ORPHA500|MedGen:CN169374;CLINVAR_CLNDN=Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.12609349dupA;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:600943;CLINVAR_GENEINFO=RAF1:5894;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=202103447	GT:AD:DP:GQ:PL	0/1:13,12:25:99:273,0,315
chr3	12737910	rs2271209	A	G	579.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271209;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMEM40|TMEM40|transcript|NM_001284406.1|protein_coding|7/11|c.473-156T>C||||||,G|intron_variant|MODIFIER|TMEM40|TMEM40|transcript|NM_001284407.1|protein_coding|6/10|c.335-156T>C||||||,G|intron_variant|MODIFIER|TMEM40|TMEM40|transcript|NM_001284408.1|protein_coding|5/9|c.197-156T>C||||||,G|intron_variant|MODIFIER|TMEM40|TMEM40|transcript|NM_018306.3|protein_coding|7/11|c.425-156T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3683;p3_1000G_AF=0.735423;p3_1000G_AFR_AF=0.9849;p3_1000G_AMR_AF=0.8156;p3_1000G_AN=5008;p3_1000G_DP=19151;p3_1000G_EAS_AF=0.5109;p3_1000G_EUR_AF=0.7535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12779409;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5542;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,15:15:45:608,45,0
chr3	12749673	rs937915	T	C	352.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.397;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=4.039;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.306;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs937915;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|TMEM40|TMEM40|transcript|NM_001284406.1|protein_coding|2/11|c.121+87A>G||||||,C|intron_variant|MODIFIER|TMEM40|TMEM40|transcript|NM_001284407.1|protein_coding|2/10|c.73+87A>G||||||,C|intron_variant|MODIFIER|TMEM40|TMEM40|transcript|NM_001284408.1|protein_coding|2/9|c.73+87A>G||||||,C|intron_variant|MODIFIER|TMEM40|TMEM40|transcript|NM_018306.3|protein_coding|2/11|c.73+87A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2690;p3_1000G_AF=0.537141;p3_1000G_AFR_AF=0.9342;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=20514;p3_1000G_EAS_AF=0.2331;p3_1000G_EUR_AF=0.5547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12791172;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2843;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,15:26:99:381,0,274
chr3	12803667	rs75214970	C	T	364.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.576;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.824;SOR=2.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75214970;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|CAND2|CAND2|transcript|NM_001162499.1|protein_coding|2/14|c.212+36C>T||||||,T|intron_variant|MODIFIER|CAND2|CAND2|transcript|NM_012298.2|protein_coding|2/12|c.212+36C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=493;p3_1000G_AF=0.0984425;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0677;p3_1000G_AN=5008;p3_1000G_DP=18998;p3_1000G_EAS_AF=0.1845;p3_1000G_EUR_AF=0.0716;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12845166;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=85,4283;ESP6500_AA_GTC=0,85,2099;ESP6500_CDS_SIZES=NM_012298.2:3360,NM_001162499.1:3711;ESP6500_CG=1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=32;ESP6500_EA_AC=566,7944;ESP6500_EA_GTC=21,524,3710;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012298.2:intron,NM_001162499.1:intron;ESP6500_GL=CAND2;ESP6500_GRCh38_POSITION=3:12803667;ESP6500_GTC=21,609,5809;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_012298.2:c.212+36C>T,NM_001162499.1:c.212+36C>T;ESP6500_MAF=6.651,1.946,5.0551;ESP6500_TAC=651,12227	GT:AD:DP:GQ:PL	0/1:8,13:21:99:393,0,205
chr3	12831378	rs9814191	T	G	479.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.802;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=2.044;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=0.791;SOR=0.215;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9814191;dbSNPBuildID=119;ANN=G|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding||c.*4716A>C|||||3567|,G|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding||c.*4716A>C|||||3567|,G|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding||c.*4716A>C|||||3567|,G|intron_variant|MODIFIER|CAND2|CAND2|transcript|NM_001162499.1|protein_coding|13/14|c.3376-87T>G||||||,G|intron_variant|MODIFIER|CAND2|CAND2|transcript|NM_012298.2|protein_coding|11/12|c.3025-87T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=969;p3_1000G_AF=0.19349;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=19590;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12872877;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,17:24:99:508,0,161
chr3	12831402	rs58996323	G	A	503.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.609;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=5.347;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=1.97;SOR=0.202;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58996323;dbSNPBuildID=129;ANN=A|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding||c.*4692C>T|||||3543|,A|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding||c.*4692C>T|||||3543|,A|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding||c.*4692C>T|||||3543|,A|intron_variant|MODIFIER|CAND2|CAND2|transcript|NM_001162499.1|protein_coding|13/14|c.3376-63G>A||||||,A|intron_variant|MODIFIER|CAND2|CAND2|transcript|NM_012298.2|protein_coding|11/12|c.3025-63G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=596;p3_1000G_AF=0.11901;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=19736;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12872901;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,21:34:99:532,0,377
chr3	12831622	rs145605538;rs3832211	CCTCGGCCAGTCGTT	C	184.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.51;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.054;SOR=1.863;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3832211,rs145605538;dbSNPBuildID=134,107;ANN=C|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding||c.*4458_*4471delAACGACTGGCCGAG|||||3322|,C|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding||c.*4458_*4471delAACGACTGGCCGAG|||||3322|,C|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding||c.*4458_*4471delAACGACTGGCCGAG|||||3322|,C|intron_variant|MODIFIER|CAND2|CAND2|transcript|NM_001162499.1|protein_coding|14/14|c.3483+52_3483+65delTCGGCCAGTCGTTC||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CAND2|CAND2|transcript|NM_012298.2|protein_coding|12/12|c.3132+52_3132+65delTCGGCCAGTCGTTC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=596;p3_1000G_AF=0.11901;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=23682;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0924;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12873121;p3_1000G_GRCH37_REF=CCTCGGCCAGTCGTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=INDEL;ESP6500_AA_AC=329,3427;ESP6500_AA_GTC=32,265,1581;ESP6500_CDS_SIZES=NM_012298.2:3360,NM_001162499.1:3711;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=18;ESP6500_EA_AC=743,7171;ESP6500_EA_GTC=44,655,3258;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012298.2:intron,NM_001162499.1:intron;ESP6500_GL=CAND2;ESP6500_GRCh38_POSITION=3:12831622;ESP6500_GTC=76,920,4839;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_012298.2:c.3132+51_3132+64del14,NM_001162499.1:c.3483+51_3483+64del14;ESP6500_MAF=9.3884,8.7593,9.1859;ESP6500_TAC=1072,10598	GT:AD:DP:GQ:PL	0/1:10,6:16:99:222,0,1618
chr3	12833944	rs12629133	G	A	783.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.783;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.526;SOR=0.631;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12629133;dbSNPBuildID=120;ANN=A|missense_variant|MODERATE|CAND2|CAND2|transcript|NM_001162499.1|protein_coding|15/15|c.3673G>A|p.Ala1225Thr|3722/4592|3673/3711|1225/1236||,A|missense_variant|MODERATE|CAND2|CAND2|transcript|NM_012298.2|protein_coding|13/13|c.3322G>A|p.Ala1108Thr|3371/4241|3322/3360|1108/1119||,A|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding||c.*2150C>T|||||1001|,A|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding||c.*2150C>T|||||1001|,A|downstream_gene_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding||c.*2150C>T|||||1001|;p3_1000G_AA=G|||;p3_1000G_AC=2258;p3_1000G_AF=0.450879;p3_1000G_AFR_AF=0.2852;p3_1000G_AMR_AF=0.5187;p3_1000G_AN=5008;p3_1000G_DP=18560;p3_1000G_EAS_AF=0.4474;p3_1000G_EUR_AF=0.6332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12875443;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4427;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1386,2480;ESP6500_AA_GTC=251,884,798;ESP6500_CDS_SIZES=NM_012298.2:3360,NM_001162499.1:3711;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=79;ESP6500_EA_AC=5191,3085;ESP6500_EA_GTC=1628,1935,575;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_012298.2:missense,NM_001162499.1:missense;ESP6500_GL=CAND2;ESP6500_GRCh38_POSITION=3:12833944;ESP6500_GS=58,58;ESP6500_GTC=1879,2819,1373;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_012298.2:c.3322G>A,NM_001162499.1:c.3673G>A;ESP6500_HGVS_PROTEIN_VAR=NM_012298.2:p.(A1108T),NM_001162499.1:p.(A1225T);ESP6500_MAF=37.2765,35.851,45.8326;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=6577,5565	GT:AD:DP:GQ:PL	0/1:45,34:79:99:812,0,1259
chr3	12836331	rs397712248;rs56204642	G	GT	844.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.569;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.071;SOR=0.708;INS;HET;VARTYPE=INS;dbSNP138_ID=rs56204642;dbSNPBuildID=135,138;ANN=GT|downstream_gene_variant|MODIFIER|CAND2|CAND2|transcript|NM_001162499.1|protein_coding||c.*2349_*2350insT|||||1518|,GT|downstream_gene_variant|MODIFIER|SNORA7A|SNORA7A|transcript|NR_002582.1|pseudogene||n.*3980dupA|||||3980|,GT|downstream_gene_variant|MODIFIER|CAND2|CAND2|transcript|NM_012298.2|protein_coding||c.*2349_*2350insT|||||1518|,GT|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding|3/3|c.279-109dupA||||||,GT|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding|2/2|c.279-109dupA||||||,GT|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding|3/3|c.279-109dupA||||||;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=968;p3_1000G_AF=0.193291;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=1806;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12877830;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,28:59:99:0|1:12836331_G_GT:882,0,983
chr3	12839243	rs375222503	AC	A	398.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.48;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.11;SOR=1.186;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs375222503;dbSNPBuildID=138;ANN=A|downstream_gene_variant|MODIFIER|CAND2|CAND2|transcript|NM_001162499.1|protein_coding||c.*5262delC|||||4430|,A|downstream_gene_variant|MODIFIER|SNORA7A|SNORA7A|transcript|NR_002582.1|pseudogene||n.*1068delG|||||1068|,A|downstream_gene_variant|MODIFIER|CAND2|CAND2|transcript|NM_012298.2|protein_coding||c.*5262delC|||||4430|,A|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding|3/3|c.278+105delG||||||,A|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding|2/2|c.278+105delG||||||,A|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding|3/3|c.278+105delG||||||;p3_1000G_AA=CCCCCC|CCCCCC|CCCCC|deletion;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20072;p3_1000G_EAS_AF=0.0169;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12880742;p3_1000G_GRCH37_REF=AC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:18,17:35:99:436,0,467
chr3	12839319	rs2290312	A	C	634.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=1.053;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.2;SOR=0.944;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290312;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|CAND2|CAND2|transcript|NM_001162499.1|protein_coding||c.*5337A>C|||||4505|,C|downstream_gene_variant|MODIFIER|SNORA7A|SNORA7A|transcript|NR_002582.1|pseudogene||n.*993T>G|||||993|,C|downstream_gene_variant|MODIFIER|CAND2|CAND2|transcript|NM_012298.2|protein_coding||c.*5337A>C|||||4505|,C|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding|3/3|c.278+30T>G||||||,C|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding|2/2|c.278+30T>G||||||,C|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding|3/3|c.278+30T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=971;p3_1000G_AF=0.19389;p3_1000G_AFR_AF=0.3759;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=18870;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12880818;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1510,2896;ESP6500_AA_AGE=671.7+/-402.5;ESP6500_AA_GTC=271,968,964;ESP6500_CDS_SIZES=NM_001007074.1:408,NM_001007073.1:408,NM_000994.3:408;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=969,7631;ESP6500_EA_AGE=774.0+/-407.7;ESP6500_EA_GTC=59,851,3390;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001007074.1:intron,NM_001007073.1:intron,NM_000994.3:intron;ESP6500_GL=RPL32;ESP6500_GRCh38_POSITION=3:12839319;ESP6500_GTC=330,1819,4354;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001007074.1:c.278+30T>G,NM_001007073.1:c.278+30T>G,NM_000994.3:c.278+30T>G;ESP6500_MAF=11.2674,34.2714,19.0604;ESP6500_TAC=2479,10527	GT:AD:DP:GQ:PL	0/1:31,25:56:99:663,0,767
chr3	12839734	rs3901334	A	G	12.99	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=5.304;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.785;SOR=0.033;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3901334;dbSNPBuildID=108;ANN=G|downstream_gene_variant|MODIFIER|CAND2|CAND2|transcript|NM_001162499.1|protein_coding||c.*5752A>G|||||4920|,G|downstream_gene_variant|MODIFIER|SNORA7A|SNORA7A|transcript|NR_002582.1|pseudogene||n.*578T>C|||||578|,G|downstream_gene_variant|MODIFIER|CAND2|CAND2|transcript|NM_012298.2|protein_coding||c.*5752A>G|||||4920|,G|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding|2/3|c.97-204T>C||||||,G|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding|1/2|c.97-204T>C||||||,G|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding|2/3|c.97-204T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=969;p3_1000G_AF=0.19349;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=17884;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12881233;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,2:13:41:41,0,314
chr3	12840086	rs3217618;rs56028425	A	ACTGGCGGC	1446.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.595;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=4.14;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.94;ReadPosRankSum=0.04;SOR=1.445;INS;HET;VARTYPE=INS;dbSNP138_ID=rs3217618,rs56028425;dbSNPBuildID=106,129;ANN=ACTGGCGGC|downstream_gene_variant|MODIFIER|SNORA7A|SNORA7A|transcript|NR_002582.1|pseudogene||n.*225_*226insGCCGCCAG|||||225|,ACTGGCGGC|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding|2/3|c.96+55_96+56insGCCGCCAG||||||,ACTGGCGGC|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding|1/2|c.96+55_96+56insGCCGCCAG||||||,ACTGGCGGC|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding|2/3|c.96+55_96+56insGCCGCCAG||||||;p3_1000G_AC=952;p3_1000G_AF=0.190096;p3_1000G_AFR_AF=0.3699;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=19537;p3_1000G_EAS_AF=0.0913;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12881585;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:23,35:58:99:1484,0,2064
chr3	12840258	rs7627602	C	T	698.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.304;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=4.366;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-2.535;SOR=1.393;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7627602;dbSNPBuildID=116;ANN=T|5_prime_UTR_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007074.1|protein_coding|1/3|c.-21G>A|||||21|,T|5_prime_UTR_variant|MODIFIER|RPL32|RPL32|transcript|NM_001007073.1|protein_coding|2/4|c.-21G>A|||||21|,T|downstream_gene_variant|MODIFIER|SNORA7A|SNORA7A|transcript|NR_002582.1|pseudogene||n.*54G>A|||||54|,T|intron_variant|MODIFIER|RPL32|RPL32|transcript|NM_000994.3|protein_coding|1/3|c.-5-16G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=968;p3_1000G_AF=0.193291;p3_1000G_AFR_AF=0.3737;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=18685;p3_1000G_EAS_AF=0.0933;p3_1000G_EUR_AF=0.0954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12881757;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1496,2910;ESP6500_AA_AGE=469.4+/-355.4;ESP6500_AA_GTC=268,960,975;ESP6500_CDS_SIZES=NM_001007074.1:408,NM_001007073.1:408,NM_000994.3:408;ESP6500_CG=-0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=88;ESP6500_EA_AC=970,7630;ESP6500_EA_AGE=207.2+/-249.0;ESP6500_EA_GTC=59,852,3389;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001007074.1:utr-5,NM_001007073.1:utr-5,NM_000994.3:intron;ESP6500_GL=RPL32;ESP6500_GRCh38_POSITION=3:12840258;ESP6500_GTC=327,1812,4364;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001007074.1:c.-21G>A,NM_001007073.1:c.-21G>A,NM_000994.3:c.-21G>A;ESP6500_MAF=11.2791,33.9537,18.9605;ESP6500_TAC=2466,10540	GT:AD:DP:GQ:PL	0/1:24,28:52:99:727,0,602
chr3	12850536	rs143622059;rs377374930	GGGGAGA	G	610.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.202;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=2.706;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.45;ReadPosRankSum=1.01;SOR=0.269;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs377374930,rs143622059;dbSNPBuildID=134,138;ANN=G|intergenic_region|MODIFIER|RPL32-LOC105376955|RPL32-LOC105376955|intergenic_region|RPL32-LOC105376955|||n.12850537_12850542delGGGAGA||||||	GT:AD:DP:GQ:PL	0/1:8,16:24:99:648,0,541
chr3	12900829	rs3773309	T	C	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.54;ReadPosRankSum=0.712;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3773309;dbSNPBuildID=107;ANN=C|3_prime_UTR_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_001134382.2|protein_coding|14/14|c.*154A>G|||||154|,C|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_014869.6|protein_coding|13/13|c.2848-1395A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=621;p3_1000G_AF=0.124002;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=12706;p3_1000G_EAS_AF=0.0794;p3_1000G_EUR_AF=0.1252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12942328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:60:60,0,169
chr3	12901594	rs3773310	T	C	318.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=3.565;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.753;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3773310;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_001134382.2|protein_coding|13/13|c.2806-72A>G||||||,C|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_014869.6|protein_coding|13/13|c.2847+1179A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=578;p3_1000G_AF=0.115415;p3_1000G_AFR_AF=0.0726;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=15933;p3_1000G_EAS_AF=0.0774;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12943094;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:347,0,347
chr3	12913368	rs2600322	A	G	870.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.1;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2600322;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_001134382.2|protein_coding|9/13|c.2316+60T>C||||||,G|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_014869.6|protein_coding|9/13|c.2358+60T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3692;p3_1000G_AF=0.73722;p3_1000G_AFR_AF=0.9463;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=21199;p3_1000G_EAS_AF=0.496;p3_1000G_EUR_AF=0.7783;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12954868;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7127;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:899,84,0
chr3	12915031	rs2255964	G	A	463.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.696;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.476;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.26;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2255964;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_001134382.2|protein_coding|8/13|c.2190+73C>T||||||,A|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_014869.6|protein_coding|8/13|c.2232+73C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2555;p3_1000G_AF=0.510184;p3_1000G_AFR_AF=0.4826;p3_1000G_AMR_AF=0.5562;p3_1000G_AN=5008;p3_1000G_DP=16973;p3_1000G_EAS_AF=0.4157;p3_1000G_EUR_AF=0.6521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12956531;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=698,686;ESP6500_AA_GTC=188,322,182;ESP6500_CDS_SIZES=NM_014869.5:2892,NM_001134382.2:3346;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=17;ESP6500_EA_AC=2133,1049;ESP6500_EA_GTC=717,699,175;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014869.5:intron,NM_001134382.2:intron;ESP6500_GL=IQSEC1;ESP6500_GRCh38_POSITION=3:12915031;ESP6500_GTC=905,1021,357;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014869.5:c.2232+73C>T,NM_001134382.2:c.2190+73C>T;ESP6500_MAF=32.9667,49.5665,37.9982;ESP6500_TAC=2831,1735	GT:AD:DP:GQ:PL	0/1:15,20:35:99:492,0,379
chr3	12915317	rs55881454	C	G	62.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.538;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.017;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55881454;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_001134382.2|protein_coding|7/13|c.2161-184G>C||||||,G|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_014869.6|protein_coding|7/13|c.2203-184G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=597;p3_1000G_AF=0.119209;p3_1000G_AFR_AF=0.0832;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=15713;p3_1000G_EAS_AF=0.0734;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12956817;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2485;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,3:12:91:91,0,344
chr3	12935363	rs2600206	T	C	669.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2600206;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_001134382.2|protein_coding|3/13|c.1568+85A>G||||||,C|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_014869.6|protein_coding|3/13|c.1610+85A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2324;p3_1000G_AF=0.464058;p3_1000G_AFR_AF=0.4206;p3_1000G_AMR_AF=0.5317;p3_1000G_AN=5008;p3_1000G_DP=15478;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.6173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12976863;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4325;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:698,57,0
chr3	12941923	rs72624443	C	T	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=4.545;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=1.87;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72624443;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_001134382.2|protein_coding|1/13|c.24-58G>A||||||,T|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_014869.6|protein_coding|1/13|c.66-58G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1500;p3_1000G_AF=0.299521;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=18518;p3_1000G_EAS_AF=0.7302;p3_1000G_EUR_AF=0.2018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=12983423;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,14:22:99:428,0,191
chr3	12967314	rs72624444	G	C	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.439;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=1.35;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72624444;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_001134382.2|protein_coding|1/13|c.24-25449C>G||||||,C|intron_variant|MODIFIER|IQSEC1|IQSEC1|transcript|NM_014869.6|protein_coding|1/13|c.65+73C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1597;p3_1000G_AF=0.31889;p3_1000G_AFR_AF=0.0499;p3_1000G_AMR_AF=0.3314;p3_1000G_AN=5008;p3_1000G_DP=11532;p3_1000G_EAS_AF=0.7579;p3_1000G_EUR_AF=0.2058;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13008814;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3374;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:99:101,0,140
chr3	13319013	rs184930	C	T	402.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.77;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs184930;dbSNPBuildID=79;ANN=T|sequence_feature|MODERATE|NUP210|NUP210|modified-residue:phosphotyrosine|NM_024923.3|protein_coding|39/39|c.5563+59G>A||||||,T|intron_variant|MODIFIER|NUP210|NUP210|transcript|NM_024923.3|protein_coding|39/39|c.5563+59G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2105;p3_1000G_AF=0.420327;p3_1000G_AFR_AF=0.0983;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=17509;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.4573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13360513;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=215,1155;ESP6500_AA_GTC=25,165,495;ESP6500_CDS_SIZES=NM_024923.2:5664;ESP6500_CG=-3.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=9;ESP6500_EA_AC=1367,1777;ESP6500_EA_GTC=346,675,551;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024923.2:intron;ESP6500_GL=NUP210;ESP6500_GRCh38_POSITION=3:13319013;ESP6500_GTC=371,840,1046;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024923.2:c.5563+59G>A;ESP6500_MAF=43.4796,15.6934,35.0465;ESP6500_TAC=1582,2932	GT:AD:DP:GQ:PL	1/1:0,14:14:42:431,42,0
chr3	13319738	rs2276748	C	T	3200.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.36;SOR=0.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276748;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|NUP210|NUP210|transcript|NM_024923.3|protein_coding|37/39|c.5383+25G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3020;p3_1000G_AF=0.603035;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.6196;p3_1000G_AN=5008;p3_1000G_DP=18817;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.5129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13361238;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2326,2080;ESP6500_AA_AGE=593.0+/-387.9;ESP6500_AA_GTC=603,1120,480;ESP6500_CDS_SIZES=NM_024923.2:5664;ESP6500_CG=-0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=43;ESP6500_EA_AC=4200,4400;ESP6500_EA_AGE=559.4+/-387.4;ESP6500_EA_GTC=1035,2130,1135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024923.2:intron;ESP6500_GL=NUP210;ESP6500_GRCh38_POSITION=3:13319738;ESP6500_GTC=1638,3250,1615;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024923.2:c.5383+25G>A;ESP6500_MAF=48.8372,47.2084,49.8232;ESP6500_TAC=6526,6480	GT:AD:DP:GQ:PL	1/1:0,109:109:99:3229,327,0
chr3	13319787	rs354478	C	T	3070.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=102;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.11;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs354478;dbSNPBuildID=79;ANN=T|missense_variant|MODERATE|NUP210|NUP210|transcript|NM_024923.3|protein_coding|37/40|c.5359G>A|p.Val1787Met|5452/7208|5359/5664|1787/1887||;p3_1000G_AA=T|||;p3_1000G_AC=3065;p3_1000G_AF=0.612021;p3_1000G_AFR_AF=0.5741;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=17441;p3_1000G_EAS_AF=0.6984;p3_1000G_EUR_AF=0.5139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13361287;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2462,1944;ESP6500_AA_AGE=552.0+/-378.4;ESP6500_AA_GTC=684,1094,425;ESP6500_CDS_SIZES=NM_024923.2:5664;ESP6500_CG=-1.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=73;ESP6500_EA_AC=4208,4392;ESP6500_EA_AGE=584.3+/-391.7;ESP6500_EA_GTC=1038,2132,1130;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024923.2:missense;ESP6500_GL=NUP210;ESP6500_GRCh38_POSITION=3:13319787;ESP6500_GS=21;ESP6500_GTC=1722,3226,1555;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024923.2:c.5359G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024923.2:p.(V1787M);ESP6500_MAF=48.9302,44.1217,48.716;ESP6500_PH=benign:0.0;ESP6500_TAC=6670,6336	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3099,306,0
chr3	13319891	rs354479	A	G	2027.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.86;SOR=1.453;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs354479;dbSNPBuildID=79;ANN=G|missense_variant|MODERATE|NUP210|NUP210|transcript|NM_024923.3|protein_coding|37/40|c.5255T>C|p.Leu1752Ser|5348/7208|5255/5664|1752/1887||;p3_1000G_AA=G|||;p3_1000G_AC=4461;p3_1000G_AF=0.890775;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.8501;p3_1000G_AN=5008;p3_1000G_DP=16988;p3_1000G_EAS_AF=0.9871;p3_1000G_EUR_AF=0.7326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13361391;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8814;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4130,276;ESP6500_AA_AGE=156.3+/-189.4;ESP6500_AA_GTC=1937,256,10;ESP6500_CDS_SIZES=NM_024923.2:5664;ESP6500_CG=4.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=62;ESP6500_EA_AC=6113,2487;ESP6500_EA_AGE=408.0+/-349.4;ESP6500_EA_GTC=2154,1805,341;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024923.2:missense;ESP6500_GL=NUP210;ESP6500_GRCh38_POSITION=3:13319891;ESP6500_GS=145;ESP6500_GTC=4091,2061,351;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024923.2:c.5255T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024923.2:p.(L1752S);ESP6500_MAF=28.9186,6.2642,21.244;ESP6500_PH=benign:0.0;ESP6500_TAC=10243,2763	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2056,171,0
chr3	13323376	rs514084	G	T	1445.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.51;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs514084;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|NUP210|NUP210|transcript|NM_024923.3|protein_coding|34/40|c.4701C>A|p.Thr1567Thr|4794/7208|4701/5664|1567/1887||;p3_1000G_AA=G|||;p3_1000G_AC=2793;p3_1000G_AF=0.557708;p3_1000G_AFR_AF=0.3744;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=18380;p3_1000G_EAS_AF=0.6974;p3_1000G_EUR_AF=0.5129;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13364876;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6687;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1773,2633;ESP6500_AA_AGE=523.9+/-371.2;ESP6500_AA_GTC=345,1083,775;ESP6500_CDS_SIZES=NM_024923.2:5664;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=121;ESP6500_EA_AC=4191,4409;ESP6500_EA_AGE=569.1+/-389.1;ESP6500_EA_GTC=1030,2131,1139;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024923.2:coding-synonymous;ESP6500_GL=NUP210;ESP6500_GRCh38_POSITION=3:13323376;ESP6500_GTC=1375,3214,1914;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_024923.2:c.4701C>A;ESP6500_HGVS_PROTEIN_VAR=NM_024923.2:p.(T1567);ESP6500_MAF=48.7326,40.2406,45.8558;ESP6500_TAC=5964,7042	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1474,147,0
chr3	13325906	rs665064	C	T	1118.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.96;SOR=1.885;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs665064;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|NUP210|NUP210|transcript|NM_024923.3|protein_coding|33/40|c.4533G>A|p.Ser1511Ser|4626/7208|4533/5664|1511/1887||;p3_1000G_AA=C|||;p3_1000G_AC=2402;p3_1000G_AF=0.479633;p3_1000G_AFR_AF=0.18;p3_1000G_AMR_AF=0.5764;p3_1000G_AN=5008;p3_1000G_DP=17667;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.4771;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13367406;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6227;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1082,3324;ESP6500_AA_AGE=389.3+/-327.3;ESP6500_AA_GTC=124,834,1245;ESP6500_CDS_SIZES=NM_024923.2:5664;ESP6500_CG=-5.8;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=93;ESP6500_EA_AC=3915,4685;ESP6500_EA_AGE=547.6+/-385.2;ESP6500_EA_GTC=899,2117,1284;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024923.2:coding-synonymous;ESP6500_GL=NUP210;ESP6500_GRCh38_POSITION=3:13325906;ESP6500_GTC=1023,2951,2529;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024923.2:c.4533G>A;ESP6500_HGVS_PROTEIN_VAR=NM_024923.2:p.(S1511);ESP6500_MAF=45.5233,24.5574,38.4207;ESP6500_TAC=4997,8009	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:13325905_C_A:1147,105,0
chr3	13340039	rs2271508	C	T	622.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.605;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=2.795;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=0.757;SOR=0.974;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271508;dbSNPBuildID=100;ANN=T|splice_region_variant&intron_variant|LOW|NUP210|NUP210|transcript|NM_024923.3|protein_coding|24/39|c.3292-6G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=579;p3_1000G_AF=0.115615;p3_1000G_AFR_AF=0.0023;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=18847;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.0368;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13381539;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1442;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=27,4379;ESP6500_AA_AGE=33.5+/-64.1;ESP6500_AA_GTC=0,27,2176;ESP6500_CDS_SIZES=NM_024923.2:5664;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=68;ESP6500_EA_AC=175,8425;ESP6500_EA_AGE=79.2+/-141.9;ESP6500_EA_GTC=1,173,4126;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024923.2:intron;ESP6500_GL=NUP210;ESP6500_GRCh38_POSITION=3:13340039;ESP6500_GTC=1,200,6302;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_024923.2:c.3292-6G>A;ESP6500_MAF=2.0349,0.6128,1.5531;ESP6500_TAC=202,12804	GT:AD:DP:GQ:PL	0/1:15,24:39:99:651,0,412
chr3	13378787	rs1871809	T	A	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.23;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=1.51;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1871809;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|NUP210|NUP210|transcript|NM_024923.3|protein_coding|8/39|c.1045+125A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=660;p3_1000G_AF=0.131789;p3_1000G_AFR_AF=0.0197;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=21178;p3_1000G_EAS_AF=0.3204;p3_1000G_EUR_AF=0.0437;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13420287;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:327,0,185
chr3	13481510	rs2655218	T	C	280.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.86;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.312;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.128;SOR=0.184;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2655218;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|HDAC11-AS1|HDAC11-AS1|transcript|NR_046690.1|pseudogene||n.-1457A>G|||||1457|,C|intron_variant|MODIFIER|HDAC11|HDAC11|transcript|NM_024827.3|protein_coding|2/9|c.151+116T>C||||||,C|intron_variant|MODIFIER|HDAC11|HDAC11|transcript|NM_001136041.2|protein_coding|2/9|c.67+116T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3617;p3_1000G_AF=0.722244;p3_1000G_AFR_AF=0.9349;p3_1000G_AMR_AF=0.6556;p3_1000G_AN=5008;p3_1000G_DP=19391;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.5358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13523010;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,11:27:99:309,0,434
chr3	13496863	rs149010803;rs3217603;~rs3217603	T	TG	259.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.97;SOR=1.609;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs3217603,rs149010803;dbSNPBuildID=134,106;ANN=TG|intron_variant|MODIFIER|HDAC11|HDAC11|transcript|NM_024827.3|protein_coding|4/9|c.369+18dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|HDAC11|HDAC11|transcript|NM_001136041.2|protein_coding|4/9|c.216+18dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=726;p3_1000G_AF=0.144968;p3_1000G_AFR_AF=0.0772;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=15079;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0.1899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13538363;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1544;p3_1000G_VT=INDEL;ESP6500_AA_AC=1,305,9,3951;ESP6500_AA_GTC=0,0,0,1,5,0,295,0,9,1823;ESP6500_CDS_SIZES=NM_024827.3:1044,NM_024827.3:1044,NM_024827.3:1044,NM_001136041.2:891,NM_001136041.2:891,NM_001136041.2:891;ESP6500_CG=0.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=23;ESP6500_EA_AC=3,1468,30,6753;ESP6500_EA_GTC=0,0,0,3,120,4,1224,0,26,2750;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024827.3:intron,NM_024827.3:intron,NM_024827.3:intron,NM_001136041.2:intron,NM_001136041.2:intron,NM_001136041.2:intron;ESP6500_GL=HDAC11;ESP6500_GRCh38_POSITION=3:13496863;ESP6500_GTC=0,0,0,4,125,4,1519,0,35,4573;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_024827.3:c.369+11_369+12insGG,NM_024827.3:c.369+11_369+12insG,NM_024827.3:c.369+11_369+12insT,NM_001136041.2:c.216+11_216+12insGG,NM_001136041.2:c.216+11_216+12insG,NM_001136041.2:c.216+11_216+12insT;ESP6500_MAF=18.1851,7.384,14.5048;ESP6500_TAC=4,1773,39,10704	GT:AD:DP:GQ:PL	1/1:0,10:10:30:297,30,0
chr3	13570520	rs3732667	T	C	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.66;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.447;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.403;SOR=0.998;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732667;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|2/18|c.165T>C|p.Cys55Cys|290/4324|165/3696|55/1231||,C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|2/17|c.165T>C|p.Cys55Cys|290/4183|165/3555|55/1184||,C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|2/18|c.165T>C|p.Cys55Cys|547/4581|165/3696|55/1231||;p3_1000G_AA=C|||;p3_1000G_AC=1416;p3_1000G_AF=0.282748;p3_1000G_AFR_AF=0.4493;p3_1000G_AMR_AF=0.0922;p3_1000G_AN=5008;p3_1000G_DP=17137;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.0755;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13612020;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1426,2714;ESP6500_AA_GTC=243,940,887;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-1.4;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=10;ESP6500_EA_AC=565,7793;ESP6500_EA_GTC=17,531,3631;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:coding-synonymous,NM_001165035.1:coding-synonymous,NM_001004019.1:coding-synonymous;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13570520;ESP6500_GTC=260,1471,4518;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.165T>C,NM_001165035.1:c.165T>C,NM_001004019.1:c.165T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001998.2:p.(C55),NM_001165035.1:p.(C55),NM_001004019.1:p.(C55);ESP6500_MAF=6.76,34.4444,15.9305;ESP6500_TAC=1991,10507	GT:AD:DP:GQ:PL	0/1:18,11:29:99:327,0,497
chr3	13570796	rs72624447	C	T	946.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.977;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=1.45;SOR=0.731;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72624447;dbSNPBuildID=130;ANN=T|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|2/18|c.441C>T|p.Ala147Ala|566/4324|441/3696|147/1231||,T|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|2/17|c.441C>T|p.Ala147Ala|566/4183|441/3555|147/1184||,T|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|2/18|c.441C>T|p.Ala147Ala|823/4581|441/3696|147/1231||;p3_1000G_AA=C|||;p3_1000G_AC=261;p3_1000G_AF=0.0521166;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=12885;p3_1000G_EAS_AF=0.2222;p3_1000G_EUR_AF=0.001;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13612296;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0368;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=13,4279;ESP6500_AA_GTC=0,13,2133;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-9.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=13;ESP6500_EA_AC=6,8424;ESP6500_EA_GTC=0,6,4209;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:coding-synonymous,NM_001165035.1:coding-synonymous,NM_001004019.1:coding-synonymous;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13570796;ESP6500_GTC=0,19,6342;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.441C>T,NM_001165035.1:c.441C>T,NM_001004019.1:c.441C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001998.2:p.(A147),NM_001165035.1:p.(A147),NM_001004019.1:p.(A147);ESP6500_MAF=0.0712,0.3029,0.1493;ESP6500_TAC=19,12703	GT:AD:DP:GQ:PL	0/1:25,34:59:99:975,0,594
chr3	13571120	rs778738413	A	C	682.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.378;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=0.112;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|2/18|c.765A>C|p.Thr255Thr|890/4324|765/3696|255/1231||,C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|2/17|c.765A>C|p.Thr255Thr|890/4183|765/3555|255/1184||,C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|2/18|c.765A>C|p.Thr255Thr|1147/4581|765/3696|255/1231||	GT:AD:DP:GQ:PL	0/1:12,25:37:99:711,0,256
chr3	13571436	rs3732666	A	G	3388.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=104;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.58;SOR=0.772;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3732666;dbSNPBuildID=107;ANN=G|missense_variant|MODERATE|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|2/18|c.1081A>G|p.Ser361Gly|1206/4324|1081/3696|361/1231||,G|missense_variant|MODERATE|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|2/17|c.1081A>G|p.Ser361Gly|1206/4183|1081/3555|361/1184||,G|missense_variant|MODERATE|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|2/18|c.1081A>G|p.Ser361Gly|1463/4581|1081/3696|361/1231||;p3_1000G_AA=G|||;p3_1000G_AC=2341;p3_1000G_AF=0.467452;p3_1000G_AFR_AF=0.7587;p3_1000G_AMR_AF=0.2824;p3_1000G_AN=5008;p3_1000G_DP=16187;p3_1000G_EAS_AF=0.5496;p3_1000G_EUR_AF=0.1869;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13612936;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.409;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2822,1480;ESP6500_AA_GTC=954,914,283;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=43;ESP6500_EA_AC=1671,6801;ESP6500_EA_GTC=179,1313,2744;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:missense,NM_001165035.1:missense,NM_001004019.1:missense;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13571436;ESP6500_GS=56,56,56;ESP6500_GTC=1133,2227,3027;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.1081A>G,NM_001165035.1:c.1081A>G,NM_001004019.1:c.1081A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001998.2:p.(S361G),NM_001165035.1:p.(S361G),NM_001004019.1:p.(S361G);ESP6500_MAF=19.7238,34.4026,35.173;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=4493,8281	GT:AD:DP:GQ:PL	1/1:0,104:104:99:3417,312,0
chr3	13608262	rs2276747	G	A	492.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.71;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.725;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.179;SOR=0.392;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276747;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|3/17|c.1418+89G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|3/16|c.1418+89G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|3/17|c.1418+89G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1482;p3_1000G_AF=0.295927;p3_1000G_AFR_AF=0.6604;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=19255;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13649762;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,18:32:99:521,0,434
chr3	13613921	rs2276746	C	A	142.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.047;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=1.91;SOR=0.163;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276746;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|SNORA93|SNORA93|transcript|NR_132775.1|pseudogene||n.-4460C>A|||||4460|,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|4/17|c.1549-63C>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|4/16|c.1549-63C>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|4/17|c.1549-63C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=351;p3_1000G_AF=0.0700879;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=19494;p3_1000G_EAS_AF=0.1379;p3_1000G_EUR_AF=0.0517;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13655421;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:18,7:25:99:171,0,689
chr3	13621689	rs3773264	G	A	175.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.944;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=0.222;SOR=0.25;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3773264;dbSNPBuildID=107;ANN=A|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_3|NM_001998.2|protein_coding|8/16|c.2155+1858G>A||||||,A|downstream_gene_variant|MODIFIER|SNORA93|SNORA93|transcript|NR_132775.1|pseudogene||n.*3141G>A|||||3141|,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|8/17|c.2156-86G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|8/16|c.2155+1858G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|8/17|c.2156-86G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=215;p3_1000G_AF=0.0429313;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=18476;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13663189;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0624;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,7:21:99:204,0,529
chr3	13626318	rs6801891	C	T	377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.623;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=6.628;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=-0.341;SOR=2.786;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6801891;dbSNPBuildID=116;ANN=T|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_3|NM_001998.2|protein_coding|8/16|c.2156-127C>T||||||,T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|9/17|c.2297-127C>T||||||,T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|8/16|c.2156-127C>T||||||,T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|9/17|c.2297-127C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1537;p3_1000G_AF=0.306909;p3_1000G_AFR_AF=0.348;p3_1000G_AMR_AF=0.2161;p3_1000G_AN=5008;p3_1000G_DP=17551;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.2694;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13667818;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:406,0,342
chr3	13628037	rs1966825	T	G	378.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1966825;dbSNPBuildID=92;ANN=G|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_5|NM_001004019.1|protein_coding|11/17|c.2569+68T>G||||||,G|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_5|NM_001998.2|protein_coding|10/16|c.2428+68T>G||||||,G|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|11/17|c.2569+68T>G||||||,G|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|10/16|c.2428+68T>G||||||,G|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|11/17|c.2569+68T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4137;p3_1000G_AF=0.826078;p3_1000G_AFR_AF=0.8238;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=17700;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.6978;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13669537;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:407,39,0
chr3	13628981	rs2242023	A	G	550.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.48;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=0.94;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-0.776;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2242023;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|12/18|c.2646A>G|p.Thr882Thr|2771/4324|2646/3696|882/1231||,G|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|11/17|c.2505A>G|p.Thr835Thr|2630/4183|2505/3555|835/1184||,G|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|12/18|c.2646A>G|p.Thr882Thr|3028/4581|2646/3696|882/1231||;p3_1000G_AA=a|||;p3_1000G_AC=3395;p3_1000G_AF=0.677915;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.7896;p3_1000G_AN=5008;p3_1000G_DP=18169;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.6928;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13670481;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2539,1815;ESP6500_AA_GTC=761,1017,399;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-7.2;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=46;ESP6500_EA_AC=5688,2878;ESP6500_EA_GTC=1882,1924,477;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:coding-synonymous,NM_001165035.1:coding-synonymous,NM_001004019.1:coding-synonymous;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13628981;ESP6500_GTC=2643,2941,876;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.2505A>G,NM_001165035.1:c.2646A>G,NM_001004019.1:c.2646A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001998.2:p.(T835),NM_001165035.1:p.(T882),NM_001004019.1:p.(T882);ESP6500_MAF=33.5979,41.6858,36.3235;ESP6500_TAC=8227,4693	GT:AD:DP:GQ:PL	0/1:48,25:73:99:579,0,1193
chr3	13629036	rs9843344	A	G	2536.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=73;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=0.72;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9843344;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|12/18|c.2701A>G|p.Thr901Ala|2826/4324|2701/3696|901/1231||,G|missense_variant|MODERATE|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|11/17|c.2560A>G|p.Thr854Ala|2685/4183|2560/3555|854/1184||,G|missense_variant|MODERATE|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|12/18|c.2701A>G|p.Thr901Ala|3083/4581|2701/3696|901/1231||;p3_1000G_AA=G|||;p3_1000G_AC=4033;p3_1000G_AF=0.805312;p3_1000G_AFR_AF=0.7595;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=16002;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.6938;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13670536;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7699;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3246,1060;ESP6500_AA_GTC=1223,800,130;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=35;ESP6500_EA_AC=5667,2839;ESP6500_EA_GTC=1875,1917,461;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001998.2:missense,NM_001165035.1:missense,NM_001004019.1:missense;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13629036;ESP6500_GS=58,58,58;ESP6500_GTC=3098,2717,591;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.2560A>G,NM_001165035.1:c.2701A>G,NM_001004019.1:c.2701A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001998.2:p.(T854A),NM_001165035.1:p.(T901A),NM_001004019.1:p.(T901A);ESP6500_MAF=33.3764,24.6168,30.4324;ESP6500_PH=benign:0.003,benign:0.003,benign:0.003;ESP6500_TAC=8913,3899	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2565,218,0
chr3	13629276	rs4684968	T	C	1017.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.81;SOR=1.681;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4684968;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|13/18|c.2826T>C|p.Phe942Phe|2951/4324|2826/3696|942/1231||,C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|12/17|c.2685T>C|p.Phe895Phe|2810/4183|2685/3555|895/1184||,C|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|13/18|c.2826T>C|p.Phe942Phe|3208/4581|2826/3696|942/1231||;p3_1000G_AA=C|||;p3_1000G_AC=4010;p3_1000G_AF=0.800719;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=17572;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.6759;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13670776;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7658;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3117,1027;ESP6500_AA_GTC=1160,797,115;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-1.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=28;ESP6500_EA_AC=5504,2900;ESP6500_EA_GTC=1786,1932,484;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:coding-synonymous,NM_001165035.1:coding-synonymous,NM_001004019.1:coding-synonymous;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13629276;ESP6500_GTC=2946,2729,599;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.2685T>C,NM_001165035.1:c.2826T>C,NM_001004019.1:c.2826T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001998.2:p.(F895),NM_001165035.1:p.(F942),NM_001004019.1:p.(F942);ESP6500_MAF=34.5074,24.7828,31.2958;ESP6500_TAC=8621,3927	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1046,96,0
chr3	13629337	rs4684969	T	G	549.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.34;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4684969;dbSNPBuildID=111;ANN=G|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_7|NM_001004019.1|protein_coding|13/17|c.2842+45T>G||||||,G|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_7|NM_001998.2|protein_coding|12/16|c.2701+45T>G||||||,G|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|13/17|c.2842+45T>G||||||,G|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|12/16|c.2701+45T>G||||||,G|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|13/17|c.2842+45T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4009;p3_1000G_AF=0.800519;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.8242;p3_1000G_AN=5008;p3_1000G_DP=15802;p3_1000G_EAS_AF=0.9931;p3_1000G_EUR_AF=0.674;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13670837;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3048,1020;ESP6500_AA_GTC=1140,768,126;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=15;ESP6500_EA_AC=5370,2950;ESP6500_EA_GTC=1722,1926,512;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:intron,NM_001165035.1:intron,NM_001004019.1:intron;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13629337;ESP6500_GTC=2862,2694,638;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.2701+45T>G,NM_001165035.1:c.2842+45T>G,NM_001004019.1:c.2842+45T>G;ESP6500_MAF=35.4567,25.0737,32.0471;ESP6500_TAC=8418,3970	GT:AD:DP:GQ:PL	1/1:0,17:17:51:578,51,0
chr3	13630892	rs3773258	G	C	298.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.701;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3773258;dbSNPBuildID=107;ANN=C|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_9|NM_001004019.1|protein_coding|15/17|c.3085+77G>C||||||,C|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_9|NM_001998.2|protein_coding|14/16|c.2944+77G>C||||||,C|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|15/17|c.3085+77G>C||||||,C|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|14/16|c.2944+77G>C||||||,C|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|15/17|c.3085+77G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1608;p3_1000G_AF=0.321086;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.1844;p3_1000G_AN=5008;p3_1000G_DP=20136;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13672392;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3057;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,11:33:99:327,0,653
chr3	13631543	rs2290191	G	A	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.107;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.601;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290191;dbSNPBuildID=100;ANN=A|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_10|NM_001004019.1|protein_coding|16/17|c.3214+86G>A||||||,A|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_10|NM_001998.2|protein_coding|15/16|c.3073+86G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|16/17|c.3214+86G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|15/16|c.3073+86G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|16/17|c.3214+86G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1291;p3_1000G_AF=0.257788;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.1643;p3_1000G_AN=5008;p3_1000G_DP=20166;p3_1000G_EAS_AF=0.3433;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13673043;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:307,0,394
chr3	13636347	rs2290190	C	T	595.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.647;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.08;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.282;SOR=0.13;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290190;dbSNPBuildID=100;ANN=T|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_10|NM_001004019.1|protein_coding|16/17|c.3215-98C>T||||||,T|sequence_feature|LOW|FBLN2|FBLN2|domain:EGF-like_10|NM_001998.2|protein_coding|15/16|c.3074-98C>T||||||,T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|16/17|c.3215-98C>T||||||,T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|15/16|c.3074-98C>T||||||,T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|16/17|c.3215-98C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=666;p3_1000G_AF=0.132987;p3_1000G_AFR_AF=0.1785;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=17654;p3_1000G_EAS_AF=0.2014;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13677847;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1391;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,20:36:99:624,0,532
chr3	13636673	rs2290188	G	T	1413.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.41;SOR=4.351;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290188;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|17/17|c.3338+105G>T||||||,T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|16/16|c.3197+105G>T||||||,T|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|17/17|c.3338+105G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3022;p3_1000G_AF=0.603435;p3_1000G_AFR_AF=0.8517;p3_1000G_AMR_AF=0.4625;p3_1000G_AN=5008;p3_1000G_DP=19070;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13678173;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1442,111,0
chr3	13637544	rs4684148	G	A	1332.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.62;SOR=1.88;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4684148;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|17/17|c.3339-18G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|16/16|c.3198-18G>A||||||,A|intron_variant|MODIFIER|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|17/17|c.3339-18G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2471;p3_1000G_AF=0.493411;p3_1000G_AFR_AF=0.6861;p3_1000G_AMR_AF=0.3718;p3_1000G_AN=5008;p3_1000G_DP=19197;p3_1000G_EAS_AF=0.6379;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13679044;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2470,1828;ESP6500_AA_GTC=738,994,417;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=18;ESP6500_EA_AC=2545,5953;ESP6500_EA_GTC=395,1755,2099;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:intron,NM_001165035.1:intron,NM_001004019.1:intron;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13637544;ESP6500_GTC=1133,2749,2516;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.3198-18G>A,NM_001165035.1:c.3339-18G>A,NM_001004019.1:c.3339-18G>A;ESP6500_MAF=29.9482,42.5314,39.1919;ESP6500_TAC=5015,7781	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,45:45:99:1|1:13637535_G_T:1361,135,0
chr3	13637703	rs1061375	G	A	2061.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1061375;dbSNPBuildID=86;ANN=A|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|18/18|c.3480G>A|p.Thr1160Thr|3605/4324|3480/3696|1160/1231||,A|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|17/17|c.3339G>A|p.Thr1113Thr|3464/4183|3339/3555|1113/1184||,A|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|18/18|c.3480G>A|p.Thr1160Thr|3862/4581|3480/3696|1160/1231||;p3_1000G_AA=G|||;p3_1000G_AC=2583;p3_1000G_AF=0.515775;p3_1000G_AFR_AF=0.764;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=20113;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.3231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13679203;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2780,1502;ESP6500_AA_GTC=926,928,287;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-6.8;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=48;ESP6500_EA_AC=2542,5918;ESP6500_EA_GTC=391,1760,2079;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:coding-synonymous,NM_001165035.1:coding-synonymous,NM_001004019.1:coding-synonymous;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13637703;ESP6500_GTC=1317,2688,2366;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.3339G>A,NM_001165035.1:c.3480G>A,NM_001004019.1:c.3480G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001998.2:p.(T1113),NM_001165035.1:p.(T1160),NM_001004019.1:p.(T1160);ESP6500_MAF=30.0473,35.0771,41.7674;ESP6500_TAC=5322,7420	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2090,192,0
chr3	13637835	rs1061376	C	T	1565.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=0.909;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1061376;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001004019.1|protein_coding|18/18|c.3612C>T|p.Asp1204Asp|3737/4324|3612/3696|1204/1231||,T|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001998.2|protein_coding|17/17|c.3471C>T|p.Asp1157Asp|3596/4183|3471/3555|1157/1184||,T|synonymous_variant|LOW|FBLN2|FBLN2|transcript|NM_001165035.1|protein_coding|18/18|c.3612C>T|p.Asp1204Asp|3994/4581|3612/3696|1204/1231||;p3_1000G_AA=C|||;p3_1000G_AC=2478;p3_1000G_AF=0.494808;p3_1000G_AFR_AF=0.6876;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=18377;p3_1000G_EAS_AF=0.6399;p3_1000G_EUR_AF=0.3241;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13679335;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2345,1769;ESP6500_AA_GTC=693,959,405;ESP6500_CDS_SIZES=NM_001998.2:3555,NM_001165035.1:3696,NM_001004019.1:3696;ESP6500_CG=-1.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=105;ESP6500_EA_AC=2510,5894;ESP6500_EA_GTC=385,1740,2077;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001998.2:coding-synonymous,NM_001165035.1:coding-synonymous,NM_001004019.1:coding-synonymous;ESP6500_GL=FBLN2;ESP6500_GRCh38_POSITION=3:13637835;ESP6500_GTC=1078,2699,2482;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001998.2:c.3471C>T,NM_001165035.1:c.3612C>T,NM_001004019.1:c.3612C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001998.2:p.(D1157),NM_001165035.1:p.(D1204),NM_001004019.1:p.(D1204);ESP6500_MAF=29.8667,42.9995,38.7842;ESP6500_TAC=4855,7663	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1594,147,0
chr3	13854643	rs3762719	A	G	2216.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=0.971;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3762719;dbSNPBuildID=107;ANN=G|synonymous_variant|LOW|WNT7A|WNT7A|transcript|NM_004625.3|protein_coding|3/4|c.459T>C|p.Ser153Ser|764/1714|459/1050|153/349||;p3_1000G_AA=A|||;p3_1000G_AC=1256;p3_1000G_AF=0.250799;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=18627;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13896140;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=775,3631;ESP6500_AA_AGE=311.1+/-291.9;ESP6500_AA_GTC=70,635,1498;ESP6500_CDS_SIZES=NM_004625.3:1050;ESP6500_CG=-9.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=111;ESP6500_EA_AC=1567,7033;ESP6500_EA_AGE=293.0+/-301.1;ESP6500_EA_GTC=135,1297,2868;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004625.3:coding-synonymous;ESP6500_GL=WNT7A;ESP6500_GRCh38_POSITION=3:13854643;ESP6500_GTC=205,1932,4366;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004625.3:c.459T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004625.3:p.(S153);ESP6500_MAF=18.2209,17.5897,18.0071;ESP6500_TAC=2342,10664	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2245,213,0
chr3	13854787	rs12639607	C	T	1450.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12639607;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|WNT7A|WNT7A|transcript|NM_004625.3|protein_coding|3/4|c.315G>A|p.Ala105Ala|620/1714|315/1050|105/349||;p3_1000G_AA=c|||;p3_1000G_AC=1109;p3_1000G_AF=0.221446;p3_1000G_AFR_AF=0.0257;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=19482;p3_1000G_EAS_AF=0.5813;p3_1000G_EUR_AF=0.17;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13896284;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=270,4136;ESP6500_AA_AGE=801.7+/-415.6;ESP6500_AA_GTC=7,256,1940;ESP6500_CDS_SIZES=NM_004625.3:1050;ESP6500_CG=0.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=63;ESP6500_EA_AC=1563,7037;ESP6500_EA_AGE=744.7+/-407.2;ESP6500_EA_GTC=133,1297,2870;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004625.3:coding-synonymous;ESP6500_GL=WNT7A;ESP6500_GRCh38_POSITION=3:13854787;ESP6500_GTC=140,1553,4810;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_004625.3:c.315G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004625.3:p.(A105);ESP6500_MAF=18.1744,6.128,14.0935;ESP6500_TAC=1833,11173	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1479,144,0
chr3	13874910	rs3749319	G	T	608.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.82;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3749319;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|WNT7A|WNT7A|transcript|NM_004625.3|protein_coding|2/3|c.298+37C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2695;p3_1000G_AF=0.538139;p3_1000G_AFR_AF=0.2723;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=17595;p3_1000G_EAS_AF=0.7718;p3_1000G_EUR_AF=0.5239;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=13916407;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP;ESP6500_AA_AC=1457,2935;ESP6500_AA_GTC=256,945,995;ESP6500_CDS_SIZES=NM_004625.3:1050;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=18;ESP6500_EA_AC=4734,3842;ESP6500_EA_GTC=1358,2018,912;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004625.3:intron;ESP6500_GL=WNT7A;ESP6500_GRCh38_POSITION=3:13874910;ESP6500_GTC=1614,2963,1907;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_004625.3:c.298+37C>A;ESP6500_MAF=44.7994,33.174,47.7406;ESP6500_TAC=6191,6777	GT:AD:DP:GQ:PL	1/1:0,18:18:54:637,54,0
chr3	14064382	rs4684179	C	A	255.82	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4684179;dbSNPBuildID=111;ANN=A|non_coding_transcript_exon_variant|MODIFIER|TPRXL|TPRXL|transcript|NR_002223.3|pseudogene|3/3|n.661C>A||||||	GT:AD:DP:GQ:PL	1/1:0,7:7:19:284,19,0
chr3	14112731	rs2731316	T	G	269.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.66;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2731316;dbSNPBuildID=100;ANN=G|3_prime_UTR_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_144636.2|protein_coding|4/4|c.*156A>C|||||156|,G|3_prime_UTR_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_001098502.1|protein_coding|3/3|c.*156A>C|||||156|;p3_1000G_AA=G|||;p3_1000G_AC=3415;p3_1000G_AF=0.681909;p3_1000G_AFR_AF=0.916;p3_1000G_AMR_AF=0.6859;p3_1000G_AN=5008;p3_1000G_DP=18607;p3_1000G_EAS_AF=0.6498;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14154231;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5593;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:298,21,0
chr3	14124894	rs2733578	T	C	609.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=1.531;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-0.569;SOR=1.325;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2733578;dbSNPBuildID=100;ANN=C|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_144636.2|protein_coding||c.-2917A>G|||||23|,C|upstream_gene_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding||c.-300T>C|||||46|,C|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_001098502.1|protein_coding||c.-218A>G|||||23|,C|intergenic_region|MODIFIER|CHCHD4-TMEM43|CHCHD4-TMEM43|intergenic_region|CHCHD4-TMEM43|||n.14124894T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1232;p3_1000G_AF=0.246006;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=14231;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14166394;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,21:38:99:638,0,495
chr3	14125335	rs2733579	C	T	346.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.736;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.678;SOR=0.871;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2733579;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_144636.2|protein_coding||c.-3358G>A|||||464|,T|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_001098502.1|protein_coding||c.-659G>A|||||464|,T|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|1/11|c.12+130C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1231;p3_1000G_AF=0.245807;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=18369;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.1282;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14166835;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,13:21:99:375,0,206
chr3	14125372	rs2733580	C	T	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.369;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=0;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2733580;dbSNPBuildID=100;ANN=T|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_144636.2|protein_coding||c.-3395G>A|||||501|,T|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_001098502.1|protein_coding||c.-696G>A|||||501|,T|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|1/11|c.12+167C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1232;p3_1000G_AF=0.246006;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.2594;p3_1000G_AN=5008;p3_1000G_DP=19001;p3_1000G_EAS_AF=0.2183;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14166872;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:3,5:8:99:0|1:14125372_C_T:157,0,102
chr3	14125392	.	G	T	63.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.87;SOR=0.693;SNP;HOM;VARTYPE=SNP;ANN=T|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_144636.2|protein_coding||c.-3415C>A|||||521|,T|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_001098502.1|protein_coding||c.-716C>A|||||521|,T|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|1/11|c.12+187G>T||||||	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,2:2:6:1|1:14125372_C_T:91,6,0
chr3	14129065	rs398091303;rs75536858	GA	G	232.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.111;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=2.29;SOR=0.473;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs75536858;dbSNPBuildID=137,138;ANN=G|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_144636.2|protein_coding||c.-7089delT|||||4195|,G|upstream_gene_variant|MODIFIER|CHCHD4|CHCHD4|transcript|NM_001098502.1|protein_coding||c.-4390delT|||||4195|,G|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|1/11|c.13-345delA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=AA|AA|A|deletion;p3_1000G_AC=484;p3_1000G_AF=0.0966454;p3_1000G_AFR_AF=0.1142;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=16251;p3_1000G_EAS_AF=0.2123;p3_1000G_EUR_AF=0.005;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14170565;p3_1000G_GRCH37_REF=GA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:2,8:10:45:270,0,45
chr3	14130800	rs555034992	C	T	341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.524;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=1.41;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|2/11|c.163-22C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=7;p3_1000G_AF=0.00139776;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17944;p3_1000G_EAS_AF=0.0069;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14172300;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,14:28:99:370,0,404
chr3	14132463	rs4685074	G	T	1064.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=28.02;ReadPosRankSum=1.77;SOR=0.495;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4685074;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|4/11|c.393-83G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2285;p3_1000G_AF=0.45627;p3_1000G_AFR_AF=0.4327;p3_1000G_AMR_AF=0.5029;p3_1000G_AN=5008;p3_1000G_DP=18209;p3_1000G_EAS_AF=0.6706;p3_1000G_EUR_AF=0.2594;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14173963;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:1,37:38:99:1093,104,0
chr3	14132646	rs4685075	T	C	797.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.91;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4685075;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|5/11|c.442+51T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2791;p3_1000G_AF=0.557308;p3_1000G_AFR_AF=0.6248;p3_1000G_AMR_AF=0.5893;p3_1000G_AN=5008;p3_1000G_DP=15960;p3_1000G_EAS_AF=0.6786;p3_1000G_EUR_AF=0.3956;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14174146;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2504,1902;ESP6500_AA_AGE=541.1+/-375.7;ESP6500_AA_GTC=711,1082,410;ESP6500_CDS_SIZES=NM_024334.2:1203;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=43;ESP6500_EA_AC=3499,5101;ESP6500_EA_AGE=628.4+/-398.1;ESP6500_EA_GTC=743,2013,1544;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024334.2:intron;ESP6500_GL=TMEM43;ESP6500_GRCh38_POSITION=3:14132646;ESP6500_GTC=1454,3095,1954;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024334.2:c.442+51T>C;ESP6500_MAF=40.686,43.1684,46.1556;ESP6500_TAC=6003,7003	GT:AD:DP:GQ:PL	1/1:0,25:25:75:826,75,0
chr3	14132927	rs4685076;46148	A	T	552.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.213;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.775;SOR=0.49;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4685076;dbSNPBuildID=111;ANN=T|missense_variant|MODERATE|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|6/12|c.504A>T|p.Lys168Asn|758/3342|504/1203|168/400||;p3_1000G_AA=A|||;p3_1000G_AC=1766;p3_1000G_AF=0.352636;p3_1000G_AFR_AF=0.3026;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=18688;p3_1000G_EAS_AF=0.4613;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14174427;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3998;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1265,3141;ESP6500_AA_AGE=431.8+/-343.0;ESP6500_AA_GTC=191,883,1129;ESP6500_CDS_SIZES=NM_024334.2:1203;ESP6500_CG=1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=84;ESP6500_EA_AC=2475,6125;ESP6500_EA_AGE=407.1+/-349.0;ESP6500_EA_GTC=371,1733,2196;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024334.2:missense;ESP6500_GL=TMEM43;ESP6500_GRCh38_POSITION=3:14132927;ESP6500_GS=94;ESP6500_GTC=562,2616,3325;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_024334.2:c.504A>T;ESP6500_HGVS_PROTEIN_VAR=NM_024334.2:p.(K168N);ESP6500_MAF=28.7791,28.7108,28.756;ESP6500_PH=benign:0.203;ESP6500_TAC=3740,9266;CLINVAR_AF_ESP=0.2876;CLINVAR_AF_EXAC=0.32087;CLINVAR_AF_TGP=0.3526;CLINVAR_ALLELEID=55313;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000003.12:g.14132927A>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31537|UniProtKB_(protein):Q9BTV4#VAR_031751;CLINVAR_GENEINFO=TMEM43:79188;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4685076	GT:AD:DP:GQ:PL	0/1:25,25:50:99:581,0,563
chr3	14133762	rs2340917;46150	T	C	1603.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.45;SOR=0.994;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2340917;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|7/12|c.536T>C|p.Met179Thr|790/3342|536/1203|179/400||;p3_1000G_AA=C|||;p3_1000G_AC=2320;p3_1000G_AF=0.463259;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=17856;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.2624;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14175262;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4376;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1787,2619;ESP6500_AA_AGE=643.1+/-397.8;ESP6500_AA_GTC=369,1049,785;ESP6500_CDS_SIZES=NM_024334.2:1203;ESP6500_CG=5.3;ESP6500_CP=0.3;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=177;ESP6500_EA_AC=2541,6059;ESP6500_EA_AGE=692.5+/-404.6;ESP6500_EA_GTC=389,1763,2148;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_024334.2:missense;ESP6500_GL=TMEM43;ESP6500_GRCh38_POSITION=3:14133762;ESP6500_GS=81;ESP6500_GTC=758,2812,2933;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_024334.2:c.536T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024334.2:p.(M179T);ESP6500_MAF=29.5465,40.5583,33.2769;ESP6500_PH=benign:0.0;ESP6500_TAC=4328,8678;CLINVAR_AF_ESP=0.3328;CLINVAR_AF_EXAC=0.37237;CLINVAR_AF_TGP=0.4633;CLINVAR_ALLELEID=55315;CLINVAR_CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000003.12:g.14133762T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31550|UniProtKB_(protein):Q9BTV4#VAR_031752;CLINVAR_GENEINFO=TMEM43:79188;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2340917	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1632,153,0
chr3	14134946	rs6766740	G	A	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.24;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.22;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6766740;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|8/11|c.705+55G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1757;p3_1000G_AF=0.350839;p3_1000G_AFR_AF=0.3048;p3_1000G_AMR_AF=0.366;p3_1000G_AN=5008;p3_1000G_DP=19582;p3_1000G_EAS_AF=0.4583;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14176446;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,9:18:99:261,0,290
chr3	14139052	rs2607767	A	G	255.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.97;SOR=4.407;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2607767;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|10/11|c.883-128A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3542;p3_1000G_AF=0.707268;p3_1000G_AFR_AF=0.7602;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=19505;p3_1000G_EAS_AF=0.6994;p3_1000G_EUR_AF=0.6173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14180552;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6984;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:284,24,0
chr3	14141910	rs1043943;343511	T	C	2288.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=69;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=0.91;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1043943;dbSNPBuildID=86;ANN=C|3_prime_UTR_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|12/12|c.*115T>C|||||115|,C|downstream_gene_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding||c.*4031A>G|||||3238|,C|downstream_gene_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene||n.*3238A>G|||||3238|;p3_1000G_AA=C|||;p3_1000G_AC=3451;p3_1000G_AF=0.689097;p3_1000G_AFR_AF=0.7557;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=18893;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.5994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14183410;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP;CLINVAR_ALLELEID=288952;CLINVAR_CLNDISDB=MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44600005|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005;CLINVAR_CLNDN=Xeroderma_pigmentosum|Arrhythmogenic_right_ventricular_cardiomyopathy;CLINVAR_CLNHGVS=NC_000003.12:g.14141910T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31564;CLINVAR_GENEINFO=TMEM43:79188|XPC:7508;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1043943	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2317,207,0
chr3	14142514	rs3796308;343520	G	T	751.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.356;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=4.494;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.407;SOR=0.926;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796308;dbSNPBuildID=107;ANN=T|3_prime_UTR_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|12/12|c.*719G>T|||||719|,T|downstream_gene_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding||c.*3427C>A|||||2634|,T|downstream_gene_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene||n.*2634C>A|||||2634|;p3_1000G_AA=G|||;p3_1000G_AC=699;p3_1000G_AF=0.139577;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=19948;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14184014;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1396;CLINVAR_ALLELEID=292911;CLINVAR_CLNDISDB=MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44600005|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005;CLINVAR_CLNDN=Xeroderma_pigmentosum|Arrhythmogenic_right_ventricular_cardiomyopathy;CLINVAR_CLNHGVS=NC_000003.12:g.14142514G>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:55297;CLINVAR_GENEINFO=TMEM43:79188|XPC:7508;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3796308	GT:AD:DP:GQ:PL	0/1:39,33:72:99:780,0,1033
chr3	14142556	rs141474582;343522	AAAAAC	A	1174.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.312;ClippingRankSum=0;DP=74;ExcessHet=3.0103;FS=0.936;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-0.203;SOR=0.939;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs375524161,rs141474582;dbSNPBuildID=134;ANN=A|3_prime_UTR_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding|12/12|c.*771_*775delCAAAA|||||771|INFO_REALIGN_3_PRIME,A|downstream_gene_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding||c.*3380_*3384delGTTTT|||||2591|,A|downstream_gene_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene||n.*2587_*2591delGTTTT|||||2591|;p3_1000G_AC=699;p3_1000G_AF=0.139577;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.1167;p3_1000G_AN=5008;p3_1000G_DP=23537;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.0348;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14184056;p3_1000G_GRCH37_REF=AAAAAC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1074;p3_1000G_VT=INDEL;CLINVAR_AF_TGP=0.1396;CLINVAR_ALLELEID=292656;CLINVAR_CLNDISDB=MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44600005|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005;CLINVAR_CLNDN=Xeroderma_pigmentosum|Arrhythmogenic_right_ventricular_cardiomyopathy;CLINVAR_CLNHGVS=NC_000003.12:g.14142566_14142570delCAAAA;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=Deletion;CLINVAR_CLNVCSO=SO:0000159;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498574;CLINVAR_GENEINFO=TMEM43:79188|XPC:7508;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=141474582	GT:AD:DP:GQ:PL	0/1:37,32:69:99:1212,0,1461
chr3	14145257	rs1126547;343550	C	G	499.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.4;SOR=3.767;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1126547;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding|16/16|c.*684G>C|||||684|,G|downstream_gene_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding||c.*3462C>G|||||1577|,G|non_coding_transcript_exon_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|15/15|n.3487G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=4602;p3_1000G_AF=0.91893;p3_1000G_AFR_AF=0.8744;p3_1000G_AMR_AF=0.938;p3_1000G_AN=5008;p3_1000G_DP=20113;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8767;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14186757;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP;CLINVAR_ALLELEID=292973;CLINVAR_CLNDISDB=MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44600005|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005;CLINVAR_CLNDN=Xeroderma_pigmentosum|Arrhythmogenic_right_ventricular_cardiomyopathy;CLINVAR_CLNHGVS=NC_000003.12:g.14145257C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31605;CLINVAR_GENEINFO=TMEM43:79188|XPC:7508;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1126547	GT:AD:DP:GQ:PL	1/1:0,13:13:39:528,39,0
chr3	14145949	rs2228001;190215	G	T	479.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.98;SOR=3.126;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2228001;dbSNPBuildID=98;ANN=T|missense_variant|MODERATE|XPC|XPC|transcript|NM_004628.4|protein_coding|16/16|c.2815C>A|p.Gln939Lys|2919/3720|2815/2823|939/940||,T|downstream_gene_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding||c.*4154G>T|||||2269|,T|non_coding_transcript_exon_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|15/15|n.2795C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3429;p3_1000G_AF=0.684704;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.7176;p3_1000G_AN=5008;p3_1000G_DP=18472;p3_1000G_EAS_AF=0.6667;p3_1000G_EUR_AF=0.5954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14187449;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2775,1027;ESP6500_AA_GTC=1008,759,134;ESP6500_CDS_SIZES=NM_004628.4:2823,NM_001145769.1:2712;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=73;ESP6500_EA_AC=4949,3279;ESP6500_EA_GTC=1507,1935,672;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004628.4:missense,NM_001145769.1:missense;ESP6500_GL=XPC;ESP6500_GRCh38_POSITION=3:14145949;ESP6500_GS=53,53;ESP6500_GTC=2515,2694,806;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_004628.4:c.2815C>A,NM_001145769.1:c.2704C>A;ESP6500_HGVS_PROTEIN_VAR=NM_004628.4:p.(Q939K),NM_001145769.1:p.(Q902K);ESP6500_MAF=39.8517,27.0121,35.7938;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7724,4306;CLINVAR_ALLELEID=187973;CLINVAR_CLNDISDB=MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44600005|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN236502;CLINVAR_CLNDN=Xeroderma_pigmentosum|Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|cisplatin_response_-_Toxicity/ADR;CLINVAR_CLNHGVS=NC_000003.12:g.14145949G>T;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=drug_response;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31625|PharmGKB_Clinical_Annotation:655386612|PharmGKB:655386612|PharmGKB:655386612PA449014|UniProtKB_(protein):Q01831#VAR_005848;CLINVAR_GENEINFO=TMEM43:79188|XPC:7508;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2228001	GT:AD:DP:GQ:PL	1/1:0,15:15:45:508,45,0
chr3	14146199	rs2733532;259471	T	C	814.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.76;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2733532;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding||c.*4404T>C|||||2519|,C|intron_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding|15/15|c.2605-40A>G||||||,C|intron_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|14/14|n.2585-40A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3477;p3_1000G_AF=0.694289;p3_1000G_AFR_AF=0.7738;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=18309;p3_1000G_EAS_AF=0.6726;p3_1000G_EUR_AF=0.6004;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14187699;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3113,1011;ESP6500_AA_GTC=1186,741,135;ESP6500_CDS_SIZES=NM_004628.4:2823,NM_001145769.1:2712;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=12;ESP6500_EA_AC=5094,3314;ESP6500_EA_GTC=1598,1898,708;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004628.4:intron,NM_001145769.1:intron;ESP6500_GL=XPC;ESP6500_GRCh38_POSITION=3:14146199;ESP6500_GTC=2784,2639,843;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004628.4:c.2605-40A>G,NM_001145769.1:c.2494-40A>G;ESP6500_MAF=39.4148,24.515,34.5117;ESP6500_TAC=8207,4325;CLINVAR_ALLELEID=250965;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.14146199T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=XPC:7508;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2733532	GT:AD:DP:GQ:PL	1/1:0,23:23:69:843,69,0
chr3	14148516	rs1399604676	C	A	20.8	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.054;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=-0.361;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=A|downstream_gene_variant|MODIFIER|TMEM43|TMEM43|transcript|NM_024334.2|protein_coding||c.*6721C>A|||||4836|,A|intron_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding|13/15|c.2420+46G>T||||||,A|intron_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|12/14|n.2400+46G>T||||||	GT:AD:DP:GQ:PL	0/1:16,3:19:49:49,0,556
chr3	14148737	rs2279017;190214	T	G	2947.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=90;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=0.832;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2279017;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|XPC|XPC|transcript|NM_004628.4|protein_coding|12/15|c.2251-6A>C||||||,G|splice_region_variant&intron_variant|LOW|XPC|XPC|transcript|NR_027299.1|pseudogene|11/14|n.2231-6A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3404;p3_1000G_AF=0.679712;p3_1000G_AFR_AF=0.7352;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=18884;p3_1000G_EAS_AF=0.6657;p3_1000G_EUR_AF=0.5964;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14190237;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.682;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2969,1253;ESP6500_AA_GTC=1047,875,189;ESP6500_CDS_SIZES=NM_004628.4:2823,NM_001145769.1:2712;ESP6500_CG=3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=64;ESP6500_EA_AC=5077,3365;ESP6500_EA_GTC=1549,1979,693;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004628.4:intron,NM_001145769.1:intron;ESP6500_GL=XPC;ESP6500_GRCh38_POSITION=3:14148737;ESP6500_GTC=2596,2854,882;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_004628.4:c.2251-6A>C,NM_001145769.1:c.2140-6A>C;ESP6500_MAF=39.8602,29.6779,36.4656;ESP6500_TAC=8046,4618;CLINVAR_ALLELEID=187976;CLINVAR_CLNDISDB=MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44600005|MedGen:CN169374|MedGen:CN517202;CLINVAR_CLNDN=Xeroderma_pigmentosum|not_specified|not_provided;CLINVAR_CLNHGVS=NC_000003.12:g.14148737T>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31628;CLINVAR_GENEINFO=XPC:7508;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2279017	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2976,270,0
chr3	14152523	rs3729584	C	T	379.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.862;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.189;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3729584;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding|10/15|c.2034-107G>A||||||,T|intron_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|9/14|n.2014-107G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=331;p3_1000G_AF=0.0660942;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=19541;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14194023;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,16:24:99:408,0,202
chr3	14156487	rs2958057;190212	A	T	1478.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=51;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.58;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2958057;dbSNPBuildID=101;ANN=T|synonymous_variant|LOW|XPC|XPC|transcript|NM_004628.4|protein_coding|10/16|c.1881T>A|p.Ala627Ala|1985/3720|1881/2823|627/940||,T|non_coding_transcript_exon_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|9/15|n.1861T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=21766;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14197987;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;CLINVAR_ALLELEID=187977;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.14156487A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=XPC:7508;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2958057	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1507,150,0
chr3	14158387	rs2228000;135485	G	A	1760.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.406;ClippingRankSum=0;DP=127;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.33;SOR=0.725;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228000;dbSNPBuildID=98;ANN=A|missense_variant|MODERATE|XPC|XPC|transcript|NM_004628.4|protein_coding|9/16|c.1496C>T|p.Ala499Val|1600/3720|1496/2823|499/940||,A|non_coding_transcript_exon_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|8/15|n.1476C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1167;p3_1000G_AF=0.233027;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=20742;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.2584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14199887;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2025;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=288,2848;ESP6500_AA_GTC=18,252,1298;ESP6500_CDS_SIZES=NM_004628.4:2823,NM_001145769.1:2712;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=66;ESP6500_EA_AC=1778,5386;ESP6500_EA_GTC=219,1340,2023;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004628.4:missense,NM_001145769.1:missense;ESP6500_GL=XPC;ESP6500_GRCh38_POSITION=3:14158387;ESP6500_GS=64,64;ESP6500_GTC=237,1592,3321;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004628.4:c.1496C>T,NM_001145769.1:c.1385C>T;ESP6500_HGVS_PROTEIN_VAR=NM_004628.4:p.(A499V),NM_001145769.1:p.(A462V);ESP6500_MAF=24.8185,9.1837,20.0583;ESP6500_PH=benign:0.081,benign:0.081;ESP6500_TAC=2066,8234;CLINVAR_AF_ESP=0.2006;CLINVAR_AF_EXAC=0.23775;CLINVAR_AF_TGP=0.2330;CLINVAR_ALLELEID=139224;CLINVAR_CLNDISDB=MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44600005|MedGen:CN169374;CLINVAR_CLNDN=Xeroderma_pigmentosum|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.14158387G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31682|UniProtKB_(protein):Q01831#VAR_018899;CLINVAR_GENEINFO=XPC:7508;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2228000	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1789,0,1649
chr3	14159956	rs3731123	G	C	158.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.705;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-0.967;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731123;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding|7/15|c.901-126C>G||||||,C|intron_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|6/14|n.881-126C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=445;p3_1000G_AF=0.0888578;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=17012;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14201456;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:187,0,124
chr3	14167125	rs3729587;259472	G	C	658.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.247;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.34;ReadPosRankSum=0.644;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3729587;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding|5/15|c.621+44C>G||||||,C|intron_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|4/14|n.601+44C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1781;p3_1000G_AF=0.355631;p3_1000G_AFR_AF=0.5356;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=20957;p3_1000G_EAS_AF=0.2411;p3_1000G_EUR_AF=0.2465;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14208625;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3067;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1901,2089;ESP6500_AA_GTC=455,991,549;ESP6500_CDS_SIZES=NM_004628.4:2823,NM_001145769.1:2712;ESP6500_CG=-4.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=109;ESP6500_EA_AC=2207,6101;ESP6500_EA_GTC=310,1587,2257;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004628.4:intron,NM_001145769.1:intron;ESP6500_GL=XPC;ESP6500_GRCh38_POSITION=3:14167125;ESP6500_GTC=765,2578,2806;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004628.4:c.621+44C>G,NM_001145769.1:c.510+44C>G;ESP6500_MAF=26.5648,47.6441,33.4038;ESP6500_TAC=4108,8190;CLINVAR_AF_ESP=0.3340;CLINVAR_AF_EXAC=0.32153;CLINVAR_AF_TGP=0.3556;CLINVAR_ALLELEID=250973;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.14167125G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=XPC:7508;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3729587	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,17:26:99:0|1:14167125_G_C:687,0,460
chr3	14167130	rs3729588	G	A	658.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.062;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.34;ReadPosRankSum=-0.329;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3729588;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding|5/15|c.621+39C>T||||||,A|intron_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|4/14|n.601+39C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=554;p3_1000G_AF=0.110623;p3_1000G_AFR_AF=0.1672;p3_1000G_AMR_AF=0.1383;p3_1000G_AN=5008;p3_1000G_DP=21304;p3_1000G_EAS_AF=0.2083;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14208630;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=555,3425;ESP6500_AA_GTC=40,475,1475;ESP6500_CDS_SIZES=NM_004628.4:2823,NM_001145769.1:2712;ESP6500_CG=-4.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=111;ESP6500_EA_AC=47,8247;ESP6500_EA_GTC=1,45,4101;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004628.4:intron,NM_001145769.1:intron;ESP6500_GL=XPC;ESP6500_GRCh38_POSITION=3:14167130;ESP6500_GTC=41,520,5576;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004628.4:c.621+39C>T,NM_001145769.1:c.510+39C>T;ESP6500_MAF=0.5667,13.9447,4.9047;ESP6500_TAC=602,11672	GT:AD:DP:GQ:PGT:PID:PL	0/1:9,17:26:99:0|1:14167125_G_C:687,0,460
chr3	14178523	rs1870134;135465	G	C	1224.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.62;ClippingRankSum=0;DP=97;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.857;SOR=0.748;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1870134;dbSNPBuildID=92;ANN=C|missense_variant|MODERATE|XPC|XPC|transcript|NM_004628.4|protein_coding|1/16|c.46C>G|p.Leu16Val|150/3720|46/2823|16/940||,C|upstream_gene_variant|MODIFIER|LSM3|LSM3|transcript|NM_014463.2|protein_coding||c.-338G>C|||||205|,C|non_coding_transcript_exon_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene|1/15|n.150C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=326;p3_1000G_AF=0.0650958;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=12002;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.007;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14220023;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=17,3901;ESP6500_AA_GTC=0,17,1942;ESP6500_CDS_SIZES=NM_004628.4:2823,NM_001145769.1:2712;ESP6500_CG=-4.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=32;ESP6500_EA_AC=43,8191;ESP6500_EA_GTC=1,41,4075;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004628.4:missense,NM_001145769.1:missense;ESP6500_GL=XPC;ESP6500_GRCh38_POSITION=3:14178523;ESP6500_GS=32,32;ESP6500_GTC=1,58,6017;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_004628.4:c.46C>G,NM_001145769.1:c.46C>G;ESP6500_HGVS_PROTEIN_VAR=NM_004628.4:p.(L16V),NM_001145769.1:p.(L16V);ESP6500_MAF=0.5222,0.4339,0.4937;ESP6500_PH=benign:0.001,benign:0.001;ESP6500_TAC=60,12092;CLINVAR_AF_ESP=0.0049;CLINVAR_AF_EXAC=0.03778;CLINVAR_AF_TGP=0.0651;CLINVAR_ALLELEID=139204;CLINVAR_CLNDISDB=MedGen:C0043346,Orphanet:ORPHA910,SNOMED_CT:44600005|MedGen:CN169374;CLINVAR_CLNDN=Xeroderma_pigmentosum|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.14178523G>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:76302|UniProtKB_(protein):Q01831#VAR_018894;CLINVAR_GENEINFO=XPC:7508;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1870134	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1253,0,1449
chr3	14178939	rs3731055	C	T	399.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.765;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=2.487;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=0.718;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731055;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding||c.-371G>A|||||267|,T|upstream_gene_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene||n.-267G>A|||||267|,T|intron_variant|MODIFIER|LSM3|LSM3|transcript|NM_014463.2|protein_coding|1/3|c.21+58C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=327;p3_1000G_AF=0.0652955;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1282;p3_1000G_AN=5008;p3_1000G_DP=17944;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14220439;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0204;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=8,1376;ESP6500_AA_GTC=0,8,684;ESP6500_CDS_SIZES=NM_014463.2:309;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=52;ESP6500_EA_AC=18,3164;ESP6500_EA_GTC=0,18,1573;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014463.2:intron;ESP6500_GL=LSM3;ESP6500_GRCh38_POSITION=3:14178939;ESP6500_GTC=0,26,2257;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014463.2:c.21+58C>T;ESP6500_MAF=0.5657,0.578,0.5694;ESP6500_TAC=26,4540	GT:AD:DP:GQ:PL	0/1:32,19:51:99:428,0,994
chr3	14179017	rs3731054	C	G	560.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.377;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=0.431;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3731054;dbSNPBuildID=107;ANN=G|upstream_gene_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding||c.-449G>C|||||345|,G|upstream_gene_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene||n.-345G>C|||||345|,G|intron_variant|MODIFIER|LSM3|LSM3|transcript|NM_014463.2|protein_coding|1/3|c.21+136C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=643;p3_1000G_AF=0.128395;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.1124;p3_1000G_AN=5008;p3_1000G_DP=17665;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14220517;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,19:26:99:589,0,181
chr3	14181724	rs3733170	C	T	616.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.205;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.402;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3733170;dbSNPBuildID=107;ANN=T|upstream_gene_variant|MODIFIER|XPC|XPC|transcript|NM_004628.4|protein_coding||c.-3156G>A|||||3052|,T|upstream_gene_variant|MODIFIER|XPC|XPC|transcript|NR_027299.1|pseudogene||n.-3052G>A|||||3052|,T|intron_variant|MODIFIER|LSM3|LSM3|transcript|NM_014463.2|protein_coding|2/3|c.132+54C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=706;p3_1000G_AF=0.140974;p3_1000G_AFR_AF=0.0484;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=17199;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14223224;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1155;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,25:56:99:1|0:14181717_C_A:645,0,788
chr3	14478377	rs2241781	A	T	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.17;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=0.057;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241781;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NM_001134367.3|protein_coding|11/14|c.1651-89A>T||||||,T|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NM_003043.5|protein_coding|11/14|c.1348-89A>T||||||,T|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NR_103507.2|pseudogene|10/13|n.1548-89A>T||||||;p3_1000G_AA=-|||;p3_1000G_AC=1992;p3_1000G_AF=0.397764;p3_1000G_AFR_AF=0.4766;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=17435;p3_1000G_EAS_AF=0.5238;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14519885;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4622;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:24,7:31:99:157,0,691
chr3	14478656	rs2241780	A	G	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.142;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=5.226;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.361;SOR=0.113;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2241780;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NM_001134367.3|protein_coding|12/14|c.1753+88A>G||||||,G|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NM_003043.5|protein_coding|12/14|c.1450+88A>G||||||,G|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NR_103507.2|pseudogene|11/13|n.1650+88A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2136;p3_1000G_AF=0.426518;p3_1000G_AFR_AF=0.5741;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=18701;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14520164;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4601;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,11:24:99:254,0,418
chr3	14479052	rs2304510	G	C	238.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.341;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.569;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.415;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2304510;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NM_001134367.3|protein_coding|12/14|c.1754-33G>C||||||,C|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NM_003043.5|protein_coding|12/14|c.1451-33G>C||||||,C|intron_variant|MODIFIER|SLC6A6|SLC6A6|transcript|NR_103507.2|pseudogene|11/13|n.1651-33G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1201;p3_1000G_AF=0.239816;p3_1000G_AFR_AF=0.205;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=18182;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.1481;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14520560;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=942,3464;ESP6500_AA_AGE=358.4+/-314.3;ESP6500_AA_GTC=101,740,1362;ESP6500_CDS_SIZES=NM_003043.3:1863,NM_001134367.1:1863;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=66;ESP6500_EA_AC=1282,7318;ESP6500_EA_AGE=255.1+/-280.1;ESP6500_EA_GTC=95,1092,3113;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003043.3:intron,NM_001134367.1:intron;ESP6500_GL=SLC6A6;ESP6500_GRCh38_POSITION=3:14479052;ESP6500_GTC=196,1832,4475;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_003043.3:c.1451-33G>C,NM_001134367.1:c.1451-33G>C;ESP6500_MAF=14.907,21.3799,17.0998;ESP6500_TAC=2224,10782	GT:AD:DP:GQ:PL	0/1:11,13:24:99:267,0,257
chr3	14496359	rs11918344	A	G	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.26;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.758;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11918344;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|22/23|c.2823+58T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3505;p3_1000G_AF=0.69988;p3_1000G_AFR_AF=0.8676;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=17607;p3_1000G_EAS_AF=0.6538;p3_1000G_EUR_AF=0.502;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14537867;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,5:21:97:97,0,440
chr3	14496564	rs11333211	CA	C	330.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.47;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.146;SOR=0.821;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11333211;dbSNPBuildID=134;ANN=C|splice_region_variant&intron_variant|LOW|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|21/23|c.2680-5delT||||||;p3_1000G_AA=A|AA|A|insertion;p3_1000G_AC=2914;p3_1000G_AF=0.581869;p3_1000G_AFR_AF=0.5598;p3_1000G_AMR_AF=0.5749;p3_1000G_AN=5008;p3_1000G_DP=21109;p3_1000G_EAS_AF=0.6458;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14538072;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7372;p3_1000G_VT=INDEL;ESP6500_AA_AC=2072,1830;ESP6500_AA_GTC=611,850,490;ESP6500_CDS_SIZES=NM_001080423.2:3422;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=28;ESP6500_EA_AC=3411,4601;ESP6500_EA_GTC=756,1899,1351;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080423.2:intron;ESP6500_GL=GRIP2;ESP6500_GRCh38_POSITION=3:14496564;ESP6500_GTC=1367,2749,1841;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080423.2:c.2970-5del1;ESP6500_MAF=42.5736,46.899,46.0215;ESP6500_TAC=5483,6431	GT:AD:DP:GQ:PL	0/1:15,12:27:99:368,0,479
chr3	14506700	rs2276756	G	A	236.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.246;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=6.69;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.141;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276756;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|19/23|c.2398+101C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2275;p3_1000G_AF=0.454273;p3_1000G_AFR_AF=0.2375;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=17365;p3_1000G_EAS_AF=0.5972;p3_1000G_EUR_AF=0.4145;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14548208;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5838;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:265,0,329
chr3	14506986	rs2276755	A	G	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.976;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-1.072;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276755;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|18/23|c.2219-6T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=2280;p3_1000G_AF=0.455272;p3_1000G_AFR_AF=0.2383;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=18614;p3_1000G_EAS_AF=0.5972;p3_1000G_EUR_AF=0.4145;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14548494;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5869;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=859,3127;ESP6500_AA_GTC=104,651,1238;ESP6500_CDS_SIZES=NM_001080423.2:3422;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=21;ESP6500_EA_AC=3316,4996;ESP6500_EA_GTC=729,1858,1569;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080423.2:intron;ESP6500_GL=GRIP2;ESP6500_GRCh38_POSITION=3:14506986;ESP6500_GTC=833,2509,2807;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080423.2:c.2509-6T>C;ESP6500_MAF=39.8941,21.5504,33.9486;ESP6500_TAC=4175,8123	GT:AD:DP:GQ:PL	0/1:18,10:28:99:261,0,566
chr3	14509936	rs9845816	A	G	188.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.794;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.738;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.458;SOR=0.122;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9845816;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|17/24|c.1962T>C|p.Ser654Ser|1997/7721|1962/3132|654/1043||;p3_1000G_AA=G|||;p3_1000G_AC=3556;p3_1000G_AF=0.710064;p3_1000G_AFR_AF=0.6437;p3_1000G_AMR_AF=0.6945;p3_1000G_AN=5008;p3_1000G_DP=16798;p3_1000G_EAS_AF=0.7857;p3_1000G_EUR_AF=0.5706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14551444;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2471,1399;ESP6500_AA_GTC=818,835,282;ESP6500_CDS_SIZES=NM_001080423.2:3422;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=32;ESP6500_EA_AC=4802,3414;ESP6500_EA_GTC=1470,1862,776;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080423.2:coding-synonymous;ESP6500_GL=GRIP2;ESP6500_GRCh38_POSITION=3:14509936;ESP6500_GTC=2288,2697,1058;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080423.2:c.2252T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001080423.2:p.(V751);ESP6500_MAF=41.5531,36.1499,39.8229;ESP6500_TAC=7273,4813	GT:AD:DP:GQ:PL	0/1:11,9:20:99:217,0,319
chr3	14511486	rs4685168	A	G	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.82;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.032;SOR=0.743;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4685168;dbSNPBuildID=111;ANN=G|splice_region_variant&intron_variant|LOW|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|14/23|c.1721-7T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4064;p3_1000G_AF=0.811502;p3_1000G_AFR_AF=0.8366;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=19050;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.7316;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14552994;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3405,677;ESP6500_AA_GTC=1419,567,55;ESP6500_CDS_SIZES=NM_001080423.2:3422;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=76;ESP6500_EA_AC=6192,2184;ESP6500_EA_GTC=2276,1640,272;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080423.2:intron;ESP6500_GL=GRIP2;ESP6500_GRCh38_POSITION=3:14511486;ESP6500_GTC=3695,2207,327;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080423.2:c.2011-7T>C;ESP6500_MAF=26.0745,16.585,22.9652;ESP6500_TAC=9597,2861	GT:AD:DP:GQ:PL	0/1:15,13:28:99:434,0,353
chr3	14512968	rs4516597	T	C	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.11;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=1.42;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4516597;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|13/23|c.1640-111A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3168;p3_1000G_AF=0.632588;p3_1000G_AFR_AF=0.5242;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=19577;p3_1000G_EAS_AF=0.753;p3_1000G_EUR_AF=0.5427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14554476;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:99:125,0,357
chr3	14513708	rs4685171	T	C	507.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.695;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.198;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4685171;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|13/24|c.1596A>G|p.Ala532Ala|1631/7721|1596/3132|532/1043||;p3_1000G_AA=C|||;p3_1000G_AC=3309;p3_1000G_AF=0.660743;p3_1000G_AFR_AF=0.5877;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=17787;p3_1000G_EAS_AF=0.7728;p3_1000G_EUR_AF=0.5497;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14555216;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7505;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2568,1758;ESP6500_AA_GTC=761,1046,356;ESP6500_CDS_SIZES=NM_001080423.2:3422;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=37;ESP6500_EA_AC=4678,3824;ESP6500_EA_GTC=1295,2088,868;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080423.2:coding-synonymous;ESP6500_GL=GRIP2;ESP6500_GRCh38_POSITION=3:14513708;ESP6500_GTC=2056,3134,1224;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001080423.2:c.1886A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001080423.2:p.(H629);ESP6500_MAF=44.9777,40.638,43.5142;ESP6500_TAC=7246,5582	GT:AD:DP:GQ:PL	0/1:14,20:34:99:536,0,336
chr3	14514231	rs4361268	G	A	169.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.447;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=0.707;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4361268;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|12/23|c.1493+61C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2369;p3_1000G_AF=0.473043;p3_1000G_AFR_AF=0.2837;p3_1000G_AMR_AF=0.5418;p3_1000G_AN=5008;p3_1000G_DP=18096;p3_1000G_EAS_AF=0.5863;p3_1000G_EUR_AF=0.4235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14555739;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6145;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,10:21:99:198,0,303
chr3	14514250	rs138623401;~rs10656368	C	CAGTT	427.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.605;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=-0.299;SOR=0.593;INS;HET;VARTYPE=INS;dbSNP138_ID=rs138623401;dbSNPBuildID=134;ANN=CAGTT|intron_variant|MODIFIER|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|12/23|c.1493+41_1493+42insAACT||||||;p3_1000G_AC=3310;p3_1000G_AF=0.660942;p3_1000G_AFR_AF=0.59;p3_1000G_AMR_AF=0.67;p3_1000G_AN=5008;p3_1000G_DP=18145;p3_1000G_EAS_AF=0.7738;p3_1000G_EUR_AF=0.5487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14555758;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7495;p3_1000G_VT=INDEL;ESP6500_AA_AC=2034,1772;ESP6500_AA_GTC=688,658,557;ESP6500_CDS_SIZES=NM_001080423.2:3422;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=5;ESP6500_EA_AC=3841,3927;ESP6500_EA_GTC=1184,1473,1227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080423.2:intron;ESP6500_GL=GRIP2;ESP6500_GRCh38_POSITION=3:14514250;ESP6500_GTC=1872,2131,1784;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_001080423.2:c.1783+41_1783+42insAACT;ESP6500_MAF=49.4464,46.5581,49.2397;ESP6500_TAC=5875,5699	GT:AD:DP:GQ:PL	0/1:13,12:25:99:465,0,676
chr3	14514303	rs4613440	A	G	290.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.507;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.468;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4613440;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|12/24|c.1482T>C|p.Ser494Ser|1517/7721|1482/3132|494/1043||;p3_1000G_AA=G|||;p3_1000G_AC=3314;p3_1000G_AF=0.661741;p3_1000G_AFR_AF=0.59;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=13974;p3_1000G_EAS_AF=0.7748;p3_1000G_EUR_AF=0.5487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14555811;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2397,1721;ESP6500_AA_GTC=710,977,372;ESP6500_CDS_SIZES=NM_001080423.2:3422;ESP6500_CG=2.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=14;ESP6500_EA_AC=4506,3890;ESP6500_EA_GTC=1253,2000,945;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001080423.2:coding-synonymous;ESP6500_GL=GRIP2;ESP6500_GRCh38_POSITION=3:14514303;ESP6500_GTC=1963,2977,1317;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080423.2:c.1772T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001080423.2:p.(V591);ESP6500_MAF=46.3316,41.7921,44.8378;ESP6500_TAC=6903,5611	GT:AD:DP:GQ:PL	0/1:15,12:27:99:319,0,388
chr3	14521751	rs4234526	A	G	919.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0.919;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-1.363;SOR=0.549;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4234526;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|7/24|c.603T>C|p.Ser201Ser|638/7721|603/3132|201/1043||;p3_1000G_AA=G|||;p3_1000G_AC=2241;p3_1000G_AF=0.447484;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=14365;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14563258;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=893,3183;ESP6500_AA_GTC=98,697,1243;ESP6500_CDS_SIZES=NM_001080423.2:3422;ESP6500_CG=0.9;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=21;ESP6500_EA_AC=3389,4955;ESP6500_EA_GTC=708,1973,1491;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001080423.2:coding-synonymous;ESP6500_GL=GRIP2;ESP6500_GRCh38_POSITION=3:14521751;ESP6500_GTC=806,2670,2734;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001080423.2:c.894T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001080423.2:p.(S298);ESP6500_MAF=40.616,21.9087,34.4767;ESP6500_TAC=4282,8138	GT:AD:DP:GQ:PL	0/1:36,35:71:99:948,0,952
chr3	14523510	rs4685173	G	A	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.033;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=5.454;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.987;SOR=0.096;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4685173;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|GRIP2|GRIP2|transcript|NM_001080423.3|protein_coding|5/23|c.490+102C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2255;p3_1000G_AF=0.45028;p3_1000G_AFR_AF=0.2163;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=22574;p3_1000G_EAS_AF=0.5694;p3_1000G_EUR_AF=0.4125;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14565017;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:223,0,343
chr3	14661475	rs2276754	C	A	334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.43;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2276754;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|CCDC174|CCDC174|transcript|NM_016474.4|protein_coding|4/10|c.308-55C>A||||||,A|intron_variant|MODIFIER|CCDC174|CCDC174|transcript|NR_135523.1|pseudogene|4/9|n.399-55C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3871;p3_1000G_AF=0.772963;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.8329;p3_1000G_AN=5008;p3_1000G_DP=21881;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.9066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14702982;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8896;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:363,33,0
chr3	14661894	rs397988774;rs55915506	CATAATTACA	C	491.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.54;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs66468540,rs67128589,rs55915506;dbSNPBuildID=138,138;ANN=C|intron_variant|MODIFIER|CCDC174|CCDC174|transcript|NM_016474.4|protein_coding|5/10|c.485+206_485+214delATAATTACA||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CCDC174|CCDC174|transcript|NR_135523.1|pseudogene|5/9|n.576+206_576+214delATAATTACA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2063;p3_1000G_AF=0.411941;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.3746;p3_1000G_AN=5008;p3_1000G_DP=20489;p3_1000G_EAS_AF=0.4593;p3_1000G_EUR_AF=0.5547;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14703401;p3_1000G_GRCH37_REF=CATAATTACA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6605;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,12:12:37:529,37,0
chr3	14667411	rs2280383	A	G	899.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.02;SOR=1.214;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2280383;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|CCDC174|CCDC174|transcript|NM_016474.4|protein_coding|7/10|c.725-13A>G||||||,G|intron_variant|MODIFIER|CCDC174|CCDC174|transcript|NR_135523.1|pseudogene|7/9|n.815+464A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3797;p3_1000G_AF=0.758187;p3_1000G_AFR_AF=0.5711;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=18238;p3_1000G_EAS_AF=0.6845;p3_1000G_EUR_AF=0.9066;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14708918;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2896,1510;ESP6500_AA_AGE=480.6+/-358.9;ESP6500_AA_GTC=964,968,271;ESP6500_CDS_SIZES=NM_016474.4:1404;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=81;ESP6500_EA_AC=7858,742;ESP6500_EA_AGE=178.8+/-228.1;ESP6500_EA_GTC=3595,668,37;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_016474.4:intron;ESP6500_GL=C3orf19;ESP6500_GRCh38_POSITION=3:14667411;ESP6500_GTC=4559,1636,308;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_016474.4:c.725-13A>G;ESP6500_MAF=8.6279,34.2714,17.3151;ESP6500_TAC=10754,2252	GT:AD:DP:GQ:PL	1/1:0,31:31:93:928,93,0
chr3	14684161	rs12488352	G	A	317.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.78;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12488352;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|3/16|c.485-81G>A||||||,A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|3/16|c.119-81G>A||||||,A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|3/16|c.119-81G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3722;p3_1000G_AF=0.743211;p3_1000G_AFR_AF=0.5159;p3_1000G_AMR_AF=0.8199;p3_1000G_AN=5008;p3_1000G_DP=20474;p3_1000G_EAS_AF=0.6855;p3_1000G_EUR_AF=0.9056;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14725668;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8885;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:346,30,0
chr3	14704350	rs17040196	G	A	532.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.731;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.553;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=0.148;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17040196;dbSNPBuildID=123;ANN=A|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|7/17|c.892G>A|p.Ala298Thr|1344/3328|892/2715|298/904||,A|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|7/17|c.526G>A|p.Ala176Thr|842/2826|526/2349|176/782||,A|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|7/17|c.526G>A|p.Ala176Thr|947/2931|526/2349|176/782||;p3_1000G_AA=G|||;p3_1000G_AC=1888;p3_1000G_AF=0.376997;p3_1000G_AFR_AF=0.4236;p3_1000G_AMR_AF=0.4553;p3_1000G_AN=5008;p3_1000G_DP=20715;p3_1000G_EAS_AF=0.3155;p3_1000G_EUR_AF=0.4175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14745857;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1898,2508;ESP6500_AA_AGE=544.5+/-376.5;ESP6500_AA_GTC=425,1048,730;ESP6500_CDS_SIZES=NM_032137.4:2715,NM_001184958.1:2349,NM_001184957.1:2349;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=78;ESP6500_EA_AC=3657,4943;ESP6500_EA_AGE=526.6+/-381.0;ESP6500_EA_GTC=788,2081,1431;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032137.4:missense,NM_001184958.1:missense,NM_001184957.1:missense;ESP6500_GL=C3orf20;ESP6500_GRCh38_POSITION=3:14704350;ESP6500_GS=58,58,58;ESP6500_GTC=1213,3129,2161;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032137.4:c.892G>A,NM_001184958.1:c.526G>A,NM_001184957.1:c.526G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032137.4:p.(A298T),NM_001184958.1:p.(A176T),NM_001184957.1:p.(A176T);ESP6500_MAF=42.5233,43.0776,42.7111;ESP6500_PH=benign:0.017,benign:0.017,benign:0.017;ESP6500_TAC=5555,7451	GT:AD:DP:GQ:PL	0/1:13,19:32:99:561,0,305
chr3	14714065	rs6765537	A	G	479.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.487;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.25;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=1.79;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6765537;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|8/17|c.1219A>G|p.Ile407Val|1671/3328|1219/2715|407/904||,G|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|8/17|c.853A>G|p.Ile285Val|1169/2826|853/2349|285/782||,G|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|8/17|c.853A>G|p.Ile285Val|1274/2931|853/2349|285/782||;p3_1000G_AA=A|||;p3_1000G_AC=1894;p3_1000G_AF=0.378195;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.4524;p3_1000G_AN=5008;p3_1000G_DP=20247;p3_1000G_EAS_AF=0.3244;p3_1000G_EUR_AF=0.4155;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14755572;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1899,2507;ESP6500_AA_AGE=544.6+/-376.6;ESP6500_AA_GTC=426,1047,730;ESP6500_CDS_SIZES=NM_032137.4:2715,NM_001184958.1:2349,NM_001184957.1:2349;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=112;ESP6500_EA_AC=3639,4961;ESP6500_EA_AGE=525.2+/-380.7;ESP6500_EA_GTC=776,2087,1437;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032137.4:missense,NM_001184958.1:missense,NM_001184957.1:missense;ESP6500_GL=C3orf20;ESP6500_GRCh38_POSITION=3:14714065;ESP6500_GS=29,29,29;ESP6500_GTC=1202,3134,2167;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032137.4:c.1219A>G,NM_001184958.1:c.853A>G,NM_001184957.1:c.853A>G;ESP6500_HGVS_PROTEIN_VAR=NM_032137.4:p.(I407V),NM_001184958.1:p.(I285V),NM_001184957.1:p.(I285V);ESP6500_MAF=42.314,43.1003,42.5803;ESP6500_PH=possibly-damaging:0.506,possibly-damaging:0.506,possibly-damaging:0.506;ESP6500_TAC=5538,7468	GT:AD:DP:GQ:PL	0/1:20,22:42:99:508,0,523
chr3	14714110	rs6790129	C	G	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.345;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=1.211;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=1.17;SOR=1;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6790129;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|8/17|c.1264C>G|p.Leu422Val|1716/3328|1264/2715|422/904||,G|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|8/17|c.898C>G|p.Leu300Val|1214/2826|898/2349|300/782||,G|missense_variant|MODERATE|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|8/17|c.898C>G|p.Leu300Val|1319/2931|898/2349|300/782||;p3_1000G_AA=C|||;p3_1000G_AC=1898;p3_1000G_AF=0.378994;p3_1000G_AFR_AF=0.4244;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=21186;p3_1000G_EAS_AF=0.3234;p3_1000G_EUR_AF=0.4175;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14755617;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1899,2507;ESP6500_AA_AGE=544.0+/-376.4;ESP6500_AA_GTC=426,1047,730;ESP6500_CDS_SIZES=NM_032137.4:2715,NM_001184958.1:2349,NM_001184957.1:2349;ESP6500_CG=1.6;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=88;ESP6500_EA_AC=3660,4940;ESP6500_EA_AGE=526.9+/-381.1;ESP6500_EA_GTC=789,2082,1429;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_032137.4:missense,NM_001184958.1:missense,NM_001184957.1:missense;ESP6500_GL=C3orf20;ESP6500_GRCh38_POSITION=3:14714110;ESP6500_GS=32,32,32;ESP6500_GTC=1215,3129,2159;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_032137.4:c.1264C>G,NM_001184958.1:c.898C>G,NM_001184957.1:c.898C>G;ESP6500_HGVS_PROTEIN_VAR=NM_032137.4:p.(L422V),NM_001184958.1:p.(L300V),NM_001184957.1:p.(L300V);ESP6500_MAF=42.5581,43.1003,42.7418;ESP6500_PH=possibly-damaging:0.873,possibly-damaging:0.873,possibly-damaging:0.873;ESP6500_TAC=5559,7447	GT:AD:DP:GQ:PL	0/1:28,17:45:99:403,0,758
chr3	14715223	rs9869372	A	G	2341.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.53;SOR=1.758;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9869372;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|8/16|c.1314-66A>G||||||,G|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|8/16|c.948-66A>G||||||,G|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|8/16|c.948-66A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4046;p3_1000G_AF=0.807907;p3_1000G_AFR_AF=0.8003;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=20523;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.9046;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14756730;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7853;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2370,195,0
chr3	14727027	rs7636830	A	G	340.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=0.952;SOR=0.755;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7636830;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|11/16|c.1690+3A>G||||||,G|splice_region_variant&intron_variant|LOW|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|11/16|c.1324+3A>G||||||,G|splice_region_variant&intron_variant|LOW|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|11/16|c.1324+3A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2063;p3_1000G_AF=0.411941;p3_1000G_AFR_AF=0.3495;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=21659;p3_1000G_EAS_AF=0.4048;p3_1000G_EUR_AF=0.4702;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14768534;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1581,2825;ESP6500_AA_AGE=493.9+/-362.8;ESP6500_AA_GTC=274,1033,896;ESP6500_CDS_SIZES=NM_032137.4:2715,NM_001184958.1:2349,NM_001184957.1:2349;ESP6500_CG=1.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=98;ESP6500_EA_AC=4017,4583;ESP6500_EA_AGE=554.7+/-386.5;ESP6500_EA_GTC=945,2127,1228;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032137.4:intron,NM_001184958.1:intron,NM_001184957.1:intron;ESP6500_GL=C3orf20;ESP6500_GRCh38_POSITION=3:14727027;ESP6500_GTC=1219,3160,2124;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_032137.4:c.1690+3A>G,NM_001184958.1:c.1324+3A>G,NM_001184957.1:c.1324+3A>G;ESP6500_MAF=46.7093,35.8829,43.0417;ESP6500_TAC=5598,7408	GT:AD:DP:GQ:PL	0/1:28,15:43:99:369,0,742
chr3	14727047	rs17255247	G	A	634.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.647;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.056;SOR=0.653;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17255247;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|11/16|c.1690+23G>A||||||,A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|11/16|c.1324+23G>A||||||,A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|11/16|c.1324+23G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1693;p3_1000G_AF=0.338059;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.4424;p3_1000G_AN=5008;p3_1000G_DP=21182;p3_1000G_EAS_AF=0.3175;p3_1000G_EUR_AF=0.4165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14768554;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2802;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1472,2934;ESP6500_AA_AGE=471.8+/-356.2;ESP6500_AA_GTC=260,952,991;ESP6500_CDS_SIZES=NM_032137.4:2715,NM_001184958.1:2349,NM_001184957.1:2349;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=83;ESP6500_EA_AC=3659,4941;ESP6500_EA_AGE=526.6+/-381.0;ESP6500_EA_GTC=787,2085,1428;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032137.4:intron,NM_001184958.1:intron,NM_001184957.1:intron;ESP6500_GL=C3orf20;ESP6500_GRCh38_POSITION=3:14727047;ESP6500_GTC=1047,3037,2419;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032137.4:c.1690+23G>A,NM_001184958.1:c.1324+23G>A,NM_001184957.1:c.1324+23G>A;ESP6500_MAF=42.5465,33.409,39.451;ESP6500_TAC=5131,7875	GT:AD:DP:GQ:PL	0/1:14,26:40:99:663,0,358
chr3	14760043	rs2729697	G	A	207.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.685;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.281;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2729697;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|14/16|c.2352+45G>A||||||,A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|14/16|c.1986+45G>A||||||,A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|14/16|c.1986+45G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=950;p3_1000G_AF=0.189696;p3_1000G_AFR_AF=0.0408;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=17730;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14801550;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1421;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=413,3989;ESP6500_AA_GTC=20,373,1808;ESP6500_CDS_SIZES=NM_032137.4:2715,NM_001184958.1:2349,NM_001184957.1:2349;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=22;ESP6500_EA_AC=2908,5690;ESP6500_EA_GTC=511,1886,1902;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032137.4:intron,NM_001184958.1:intron,NM_001184957.1:intron;ESP6500_GL=C3orf20;ESP6500_GRCh38_POSITION=3:14760043;ESP6500_GTC=531,2259,3710;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032137.4:c.2352+45G>A,NM_001184958.1:c.1986+45G>A,NM_001184957.1:c.1986+45G>A;ESP6500_MAF=33.8218,9.3821,25.5462;ESP6500_TAC=3321,9679	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,8:18:99:1|0:14760033_C_A:236,0,341
chr3	14772649	rs3796306	G	A	286.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.87;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3796306;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_032137.4|protein_coding|16/16|c.2631-142G>A||||||,A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184957.1|protein_coding|16/16|c.2265-142G>A||||||,A|intron_variant|MODIFIER|C3orf20|C3orf20|transcript|NM_001184958.1|protein_coding|16/16|c.2265-142G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=790;p3_1000G_AF=0.157748;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.1787;p3_1000G_AN=5008;p3_1000G_DP=18467;p3_1000G_EAS_AF=0.3323;p3_1000G_EUR_AF=0.1392;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14814156;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1892;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:315,24,0
chr3	14864006	rs172429	T	G	888.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.18;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs172429;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|1/19|c.2526-122T>G||||||,G|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|1/18|c.2526-122T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4369;p3_1000G_AF=0.872404;p3_1000G_AFR_AF=0.9138;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=19885;p3_1000G_EAS_AF=0.9752;p3_1000G_EUR_AF=0.7714;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14905513;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.817;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:917,78,0
chr3	14897581	rs2307092	G	A	744.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.839;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.281;SOR=0.639;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2307092;dbSNPBuildID=100;ANN=A|missense_variant|MODERATE|FGD5|FGD5|transcript|NM_152536.3|protein_coding|5/20|c.2821G>A|p.Glu941Lys|2931/5897|2821/4389|941/1462||,A|missense_variant|MODERATE|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|5/19|c.2821G>A|p.Glu941Lys|2931/5768|2821/4260|941/1419||;p3_1000G_AA=G|||;p3_1000G_AC=331;p3_1000G_AF=0.0660942;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=19188;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14939088;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:36,21:57:99:0|1:14897581_G_A:773,0,2027
chr3	14897582	rs2307091	A	T	744.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.45;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.476;SOR=0.58;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2307091;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|FGD5|FGD5|transcript|NM_152536.3|protein_coding|5/20|c.2822A>T|p.Glu941Val|2932/5897|2822/4389|941/1462||,T|missense_variant|MODERATE|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|5/19|c.2822A>T|p.Glu941Val|2932/5768|2822/4260|941/1419||;p3_1000G_AA=A|||;p3_1000G_AC=331;p3_1000G_AF=0.0660942;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=19145;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.0149;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14939089;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:35,21:56:99:0|1:14897581_G_A:773,0,2027
chr3	14901168	rs293906	G	A	808.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.04;SOR=4.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs293906;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|9/19|c.3264+107G>A||||||,A|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|9/18|c.3264+107G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4364;p3_1000G_AF=0.871406;p3_1000G_AFR_AF=0.9115;p3_1000G_AMR_AF=0.8674;p3_1000G_AN=5008;p3_1000G_DP=19823;p3_1000G_EAS_AF=0.9742;p3_1000G_EUR_AF=0.7903;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14942675;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7975;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:837,69,0
chr3	14907595	rs293910	G	T	474.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.67;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs293910;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|9/19|c.3265-45G>T||||||,T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|9/18|c.3265-45G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=788;p3_1000G_AF=0.157348;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=17614;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14949102;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=247,3517;ESP6500_AA_GTC=6,235,1641;ESP6500_CDS_SIZES=NM_152536.3:4389;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=33;ESP6500_EA_AC=391,7803;ESP6500_EA_GTC=9,373,3715;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152536.3:intron;ESP6500_GL=FGD5;ESP6500_GRCh38_POSITION=3:14907595;ESP6500_GTC=15,608,5356;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_152536.3:c.3265-45G>T;ESP6500_MAF=4.7718,6.5622,5.3353;ESP6500_TAC=638,11320	GT:AD:DP:GQ:PL	1/1:0,16:16:48:503,48,0
chr3	14910834	rs117236029	C	T	48.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.457;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.187;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=-1.436;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs117236029;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|10/19|c.3337-27C>T||||||,T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|10/18|c.3337-27C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=332;p3_1000G_AF=0.0662939;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0994;p3_1000G_AN=5008;p3_1000G_DP=16268;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.0149;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14952341;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0583;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=16,3708;ESP6500_AA_GTC=0,16,1846;ESP6500_CDS_SIZES=NM_152536.3:4389;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=35;ESP6500_EA_AC=107,8089;ESP6500_EA_GTC=1,105,3992;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152536.3:intron;ESP6500_GL=FGD5;ESP6500_GRCh38_POSITION=3:14910834;ESP6500_GTC=1,121,5838;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_152536.3:c.3337-27C>T;ESP6500_MAF=1.3055,0.4296,1.0319;ESP6500_TAC=123,11797	GT:AD:DP:GQ:PL	0/1:12,4:16:77:77,0,339
chr3	14911019	rs1716969	T	G	408.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.44;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1716969;dbSNPBuildID=89;ANN=G|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|11/19|c.3405+90T>G||||||,G|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|11/18|c.3405+90T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=788;p3_1000G_AF=0.157348;p3_1000G_AFR_AF=0.0567;p3_1000G_AMR_AF=0.1657;p3_1000G_AN=5008;p3_1000G_DP=18641;p3_1000G_EAS_AF=0.381;p3_1000G_EUR_AF=0.0527;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14952526;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1646;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:437,39,0
chr3	14918663	rs293916	T	C	530.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.17;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs293916;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|12/19|c.3490-91T>C||||||,C|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|12/18|c.3490-91T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4646;p3_1000G_AF=0.927716;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=15998;p3_1000G_EAS_AF=0.9097;p3_1000G_EUR_AF=0.8777;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14960170;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9131;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:559,48,0
chr3	14918697	rs2117776	G	T	607.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.39;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2117776;dbSNPBuildID=96;ANN=T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|12/19|c.3490-57G>T||||||,T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|12/18|c.3490-57G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=756;p3_1000G_AF=0.150958;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=16111;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.1918;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14960204;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1237;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=100,1284;ESP6500_AA_GTC=6,88,598;ESP6500_CDS_SIZES=NM_152536.3:4389;ESP6500_CG=-5.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=55;ESP6500_EA_AC=645,2537;ESP6500_EA_GTC=68,509,1014;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152536.3:intron;ESP6500_GL=FGD5;ESP6500_GRCh38_POSITION=3:14918697;ESP6500_GTC=74,597,1612;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_152536.3:c.3490-57G>T;ESP6500_MAF=20.2703,7.2254,16.3163;ESP6500_TAC=745,3821	GT:AD:DP:GQ:PL	1/1:0,20:20:60:636,60,0
chr3	14921830	rs13060887	C	T	371.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.8;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13060887;dbSNPBuildID=121;ANN=T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|13/19|c.3570-88C>T||||||,T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|13/18|c.3570-88C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=753;p3_1000G_AF=0.150359;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=19967;p3_1000G_EAS_AF=0.2808;p3_1000G_EUR_AF=0.1909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14963337;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:400,33,0
chr3	14923314	rs1685637	C	T	460.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1685637;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_152536.3|protein_coding|16/19|c.3937+139C>T||||||,T|intron_variant|MODIFIER|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|16/18|c.3937+139C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4632;p3_1000G_AF=0.92492;p3_1000G_AFR_AF=0.9864;p3_1000G_AMR_AF=0.9294;p3_1000G_AN=5008;p3_1000G_DP=18591;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.8718;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14964821;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9121;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:489,48,0
chr3	14924000	rs4685235	A	G	2788.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=93;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.99;SOR=1.371;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4685235;dbSNPBuildID=111;ANN=G|splice_region_variant&intron_variant|LOW|FGD5|FGD5|transcript|NM_152536.3|protein_coding|16/19|c.3938-8A>G||||||,G|splice_region_variant&intron_variant|LOW|FGD5|FGD5|transcript|NM_001320276.1|protein_coding|16/18|c.3938-8A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4844;p3_1000G_AF=0.967252;p3_1000G_AFR_AF=0.9985;p3_1000G_AMR_AF=0.9611;p3_1000G_AN=5008;p3_1000G_DP=20517;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9205;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=14965507;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4078,64;ESP6500_AA_GTC=2007,64,0;ESP6500_CDS_SIZES=NM_152536.3:4389;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=49;ESP6500_EA_AC=7725,687;ESP6500_EA_GTC=3543,639,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152536.3:intron;ESP6500_GL=FGD5;ESP6500_GRCh38_POSITION=3:14924000;ESP6500_GTC=5550,703,24;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152536.3:c.3938-8A>G;ESP6500_MAF=8.1669,1.5451,5.9822;ESP6500_TAC=11803,751	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2817,279,0
chr3	15039095	rs758240332;rs879799896	T	TG	61.9	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.282;SOR=1.981;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10663366;dbSNPBuildID=144,149;ANN=TG|downstream_gene_variant|MODIFIER|MRPS25|MRPS25|transcript|NR_135246.1|pseudogene||n.*3155dupC|||||3155|,TG|downstream_gene_variant|MODIFIER|MRPS25|MRPS25|transcript|NR_135247.1|pseudogene||n.*3155dupC|||||3155|,TG|intron_variant|MODIFIER|NR2C2|NR2C2|transcript|NM_003298.4|protein_coding|13/14|c.1568-18dupG||||||INFO_REALIGN_3_PRIME,TG|intron_variant|MODIFIER|NR2C2|NR2C2|transcript|NM_001291694.1|protein_coding|12/13|c.1511-18dupG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:1,4:5:14:99,0,14
chr3	15218358	rs826426	G	A	620.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.49;SOR=5.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs826426;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|CAPN7|CAPN7|transcript|NM_014296.2|protein_coding|3/20|c.370-115G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4830;p3_1000G_AF=0.964457;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=21865;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15259865;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:649,54,0
chr3	15218423	.	A	G	538.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=1.04;SOR=0.693;SNP;HET;VARTYPE=SNP;ANN=G|intron_variant|MODIFIER|CAPN7|CAPN7|transcript|NM_014296.2|protein_coding|3/20|c.370-50A>G||||||	GT:AD:DP:GQ:PL	0/1:12,19:31:99:567,0,295
chr3	15230376	rs79290063	G	A	279.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.951;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.186;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79290063;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|CAPN7|CAPN7|transcript|NM_014296.2|protein_coding|8/20|c.939-66G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=38;p3_1000G_AF=0.00758786;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18677;p3_1000G_EAS_AF=0.0367;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15271883;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,12:20:99:308,0,212
chr3	15259856	rs2291853	G	A	695.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.25;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291853;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|SH3BP5|SH3BP5|transcript|NM_004844.4|protein_coding|5/8|c.627-53C>T||||||,A|intron_variant|MODIFIER|SH3BP5|SH3BP5|transcript|NM_001018009.3|protein_coding|5/8|c.156-53C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|SH3BP5-AS1|SH3BP5-AS1|transcript|NR_046084.1|pseudogene|2/3|n.4646G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3474;p3_1000G_AF=0.69369;p3_1000G_AFR_AF=0.8918;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=21195;p3_1000G_EAS_AF=0.619;p3_1000G_EUR_AF=0.5746;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15301363;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.772;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1158,226;ESP6500_AA_GTC=490,178,24;ESP6500_CDS_SIZES=NM_004844.4:1368,NM_001018009.3:897;ESP6500_CG=-6.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=1856,1326;ESP6500_EA_GTC=535,786,270;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004844.4:intron,NM_001018009.3:intron;ESP6500_GL=SH3BP5;ESP6500_GRCh38_POSITION=3:15259856;ESP6500_GTC=1025,964,294;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004844.4:c.627-53C>T,NM_001018009.3:c.156-53C>T;ESP6500_MAF=41.6719,16.3295,33.9904;ESP6500_TAC=3014,1552	GT:AD:DP:GQ:PL	1/1:0,23:23:69:724,69,0
chr3	15414210	rs2290537	A	G	228.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.22;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=8.195;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.06;ReadPosRankSum=0.494;SOR=3.611;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290537;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_152396.3|protein_coding|4/5|c.532-48T>C||||||,G|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301790.1|protein_coding|3/4|c.397-48T>C||||||,G|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301792.1|protein_coding|4/4|c.531+1562T>C||||||,G|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301791.1|protein_coding|5/5|c.618-265T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1882;p3_1000G_AF=0.375799;p3_1000G_AFR_AF=0.2557;p3_1000G_AMR_AF=0.3689;p3_1000G_AN=5008;p3_1000G_DP=18253;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.4195;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15455717;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=999,2667;ESP6500_AA_GTC=141,717,975;ESP6500_CDS_SIZES=NM_152396.2:855;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=40;ESP6500_EA_AC=3443,4735;ESP6500_EA_GTC=714,2015,1360;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_152396.2:intron;ESP6500_GL=METTL6;ESP6500_GRCh38_POSITION=3:15414210;ESP6500_GTC=855,2732,2335;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152396.2:c.532-48T>C;ESP6500_MAF=42.1008,27.2504,37.5042;ESP6500_TAC=4442,7402	GT:AD:DP:GQ:PL	0/1:5,7:12:99:257,0,101
chr3	15414784	rs7652289	C	G	368.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.86;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7652289;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_152396.3|protein_coding|4/5|c.532-622G>C||||||,G|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301790.1|protein_coding|3/4|c.397-622G>C||||||,G|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301792.1|protein_coding|4/4|c.531+988G>C||||||,G|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301791.1|protein_coding|5/5|c.617+714G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4118;p3_1000G_AF=0.822284;p3_1000G_AFR_AF=0.7307;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=17142;p3_1000G_EAS_AF=0.9534;p3_1000G_EUR_AF=0.7793;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15456291;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8998;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:397,30,0
chr3	15415043	rs148072600;rs35827445	A	AAAAC	713.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.368;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.427;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.3;ReadPosRankSum=-1.593;SOR=1.106;INS;HET;VARTYPE=INS;dbSNP138_ID=rs35827445,rs148072600;dbSNPBuildID=134,126;ANN=AAAAC|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_152396.3|protein_coding|4/5|c.531+725_531+728dupGTTT||||||,AAAAC|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301790.1|protein_coding|3/4|c.396+725_396+728dupGTTT||||||,AAAAC|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301792.1|protein_coding|4/4|c.531+725_531+728dupGTTT||||||,AAAAC|intron_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301791.1|protein_coding|5/5|c.617+451_617+454dupGTTT||||||;p3_1000G_AC=2032;p3_1000G_AF=0.405751;p3_1000G_AFR_AF=0.3548;p3_1000G_AMR_AF=0.3833;p3_1000G_AN=5008;p3_1000G_DP=30648;p3_1000G_EAS_AF=0.499;p3_1000G_EUR_AF=0.4175;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15456550;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3824;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:13,19:32:99:751,0,625
chr3	15430021	rs11322247;~rs11322247	AT	A	205.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.648;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-1.102;SOR=0.877;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11322247;dbSNPBuildID=137;ANN=A|upstream_gene_variant|MODIFIER|METTL6|METTL6|transcript|NM_152396.3|protein_coding||c.-3511delA|||||2475|,A|upstream_gene_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301790.1|protein_coding||c.-3511delA|||||2475|,A|upstream_gene_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301792.1|protein_coding||c.-3511delA|||||2475|,A|upstream_gene_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301791.1|protein_coding||c.-3511delA|||||2475|,A|intron_variant|MODIFIER|EAF1|EAF1|transcript|NM_033083.6|protein_coding|2/5|c.198+25delT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=511,548,3207;ESP6500_AA_GTC=26,45,414,24,455,1169;ESP6500_CDS_SIZES=NM_033083.6:807,NM_033083.6:807;ESP6500_CG=-9.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=67;ESP6500_EA_AC=100,2818,5336;ESP6500_EA_GTC=0,29,71,380,2029,1618;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033083.6:intron,NM_033083.6:intron;ESP6500_GL=EAF1;ESP6500_GRCh38_POSITION=3:15430021;ESP6500_GTC=26,74,485,404,2484,2787;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_033083.6:c.198+15del1,NM_033083.6:c.198+14_198+15insT;ESP6500_MAF=35.3526,24.8242,31.7652;ESP6500_TAC=611,3366,8543	GT:AD:DP:GQ:PL	0/1:3,10:13:45:243,0,45
chr3	15432008	rs2290535	G	A	309.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.47;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=3.854;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.22;ReadPosRankSum=0.556;SOR=2.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290535;dbSNPBuildID=100;ANN=A|upstream_gene_variant|MODIFIER|METTL6|METTL6|transcript|NM_152396.3|protein_coding||c.-5497C>T|||||4461|,A|upstream_gene_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301790.1|protein_coding||c.-5497C>T|||||4461|,A|upstream_gene_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301792.1|protein_coding||c.-5497C>T|||||4461|,A|upstream_gene_variant|MODIFIER|METTL6|METTL6|transcript|NM_001301791.1|protein_coding||c.-5497C>T|||||4461|,A|intron_variant|MODIFIER|EAF1|EAF1|transcript|NM_033083.6|protein_coding|2/5|c.199-79G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1385;p3_1000G_AF=0.276558;p3_1000G_AFR_AF=0.0446;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=19211;p3_1000G_EAS_AF=0.379;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15473515;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.453;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,10:17:99:338,0,208
chr3	15466254	rs3732722	G	A	179.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.09;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=-0.524;SOR=2.584;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732722;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|12/16|c.814+87C>T||||||,A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|12/16|c.784+87C>T||||||,A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|11/15|c.712+87C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2317;p3_1000G_AF=0.46266;p3_1000G_AFR_AF=0.3858;p3_1000G_AMR_AF=0.5115;p3_1000G_AN=5008;p3_1000G_DP=18775;p3_1000G_EAS_AF=0.6032;p3_1000G_EUR_AF=0.4394;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15507761;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.411;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:208,0,105
chr3	15474188	rs2305616;259862	C	T	351.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.173;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.623;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.249;SOR=0.729;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305616;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|9/16|c.600+40G>A||||||,T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|9/16|c.570+40G>A||||||,T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|8/15|c.498+40G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2402;p3_1000G_AF=0.479633;p3_1000G_AFR_AF=0.6036;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=8750;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15515695;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3865;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2416,1990;ESP6500_AA_AGE=557.6+/-379.8;ESP6500_AA_GTC=653,1110,440;ESP6500_CDS_SIZES=NM_080539.3:1266,NM_080538.2:1338,NM_005677.3:1368;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=111;ESP6500_EA_AC=3749,4851;ESP6500_EA_AGE=616.8+/-396.6;ESP6500_EA_GTC=800,2149,1351;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080539.3:intron,NM_080538.2:intron,NM_005677.3:intron;ESP6500_GL=COLQ;ESP6500_GRCh38_POSITION=3:15474188;ESP6500_GTC=1453,3259,1791;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080539.3:c.498+40G>A,NM_080538.2:c.570+40G>A,NM_005677.3:c.600+40G>A;ESP6500_MAF=43.593,45.1657,47.4012;ESP6500_TAC=6165,6841;CLINVAR_AF_ESP=0.4740;CLINVAR_AF_EXAC=0.43139;CLINVAR_AF_TGP=0.4796;CLINVAR_ALLELEID=250990;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.15474188C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COLQ:8292;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2305616	GT:AD:DP:GQ:PL	0/1:10,16:26:99:380,0,272
chr3	15474974	rs924812;259860	T	C	336.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.622;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=5.904;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.26;SOR=0.959;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs924812;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|7/16|c.529-23A>G||||||,C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|7/16|c.499-23A>G||||||,C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|6/15|c.427-23A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1933;p3_1000G_AF=0.385982;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=21661;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15516481;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1427,2979;ESP6500_AA_AGE=464.9+/-354.0;ESP6500_AA_GTC=243,941,1019;ESP6500_CDS_SIZES=NM_080539.3:1266,NM_080538.2:1338,NM_005677.3:1368;ESP6500_CG=4.5;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=137;ESP6500_EA_AC=3390,5210;ESP6500_EA_AGE=502.2+/-375.6;ESP6500_EA_GTC=663,2064,1573;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080539.3:intron,NM_080538.2:intron,NM_005677.3:intron;ESP6500_GL=COLQ;ESP6500_GRCh38_POSITION=3:15474974;ESP6500_GTC=906,3005,2592;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_080539.3:c.427-23A>G,NM_080538.2:c.499-23A>G,NM_005677.3:c.529-23A>G;ESP6500_MAF=39.4186,32.3877,37.0368;ESP6500_TAC=4817,8189;CLINVAR_AF_ESP=0.3704;CLINVAR_AF_EXAC=0.38252;CLINVAR_AF_TGP=0.3860;CLINVAR_ALLELEID=250992;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.15474974T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COLQ:8292;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=924812	GT:AD:DP:GQ:PL	0/1:14,13:27:99:365,0,428
chr3	15475313	rs924811	C	T	222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.663;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.199;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs924811;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|7/16|c.528+112G>A||||||,T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|7/16|c.498+112G>A||||||,T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|6/15|c.426+112G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1998;p3_1000G_AF=0.398962;p3_1000G_AFR_AF=0.3638;p3_1000G_AMR_AF=0.3415;p3_1000G_AN=5008;p3_1000G_DP=18722;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4016;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15516820;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,10:22:99:251,0,327
chr3	15475403	rs3816526;259859	T	C	348.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=12.092;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=1.15;SOR=1.476;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816526;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|7/16|c.528+22A>G||||||,C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|7/16|c.498+22A>G||||||,C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|6/15|c.426+22A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1933;p3_1000G_AF=0.385982;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=18431;p3_1000G_EAS_AF=0.501;p3_1000G_EUR_AF=0.3996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15516910;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.362;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1420,2986;ESP6500_AA_GTC=243,934,1026;ESP6500_CDS_SIZES=NM_080539.3:1266,NM_080538.2:1338,NM_005677.3:1368;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=48;ESP6500_EA_AC=3374,5224;ESP6500_EA_GTC=666,2042,1591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080539.3:intron,NM_080538.2:intron,NM_005677.3:intron;ESP6500_GL=COLQ;ESP6500_GRCh38_POSITION=3:15475403;ESP6500_GTC=909,2976,2617;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_080539.3:c.426+22A>G,NM_080538.2:c.498+22A>G,NM_005677.3:c.528+22A>G;ESP6500_MAF=39.2417,32.2288,36.8656;ESP6500_TAC=4794,8210;CLINVAR_AF_ESP=0.3687;CLINVAR_AF_EXAC=0.46652;CLINVAR_AF_TGP=0.3860;CLINVAR_ALLELEID=250993;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.15475403T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COLQ:8292;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3816526	GT:AD:DP:GQ:PL	0/1:27,16:43:99:377,0,649
chr3	15475518	rs2305615	G	A	68.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.884;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=5.528;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=0.059;SOR=0.086;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305615;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|6/16|c.466-31C>T||||||,A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|6/16|c.436-31C>T||||||,A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|5/15|c.364-31C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2415;p3_1000G_AF=0.482228;p3_1000G_AFR_AF=0.6203;p3_1000G_AMR_AF=0.3948;p3_1000G_AN=5008;p3_1000G_DP=17958;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4324;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15517025;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2472,1924;ESP6500_AA_GTC=700,1072,426;ESP6500_CDS_SIZES=NM_080539.3:1266,NM_080538.2:1338,NM_005677.3:1368;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=3731,4857;ESP6500_EA_GTC=814,2103,1377;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080539.3:intron,NM_080538.2:intron,NM_005677.3:intron;ESP6500_GL=COLQ;ESP6500_GRCh38_POSITION=3:15475518;ESP6500_GTC=1514,3175,1803;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_080539.3:c.364-31C>T,NM_080538.2:c.436-31C>T,NM_005677.3:c.466-31C>T;ESP6500_MAF=43.4443,43.7671,47.7742;ESP6500_TAC=6203,6781	GT:AD:DP:GQ:PL	0/1:11,6:17:97:97,0,359
chr3	15477224	rs2305612;259857	G	C	375.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.867;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=5.815;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.78;ReadPosRankSum=-0.657;SOR=1.284;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305612;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|5/16|c.394-27C>G||||||,C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|5/16|c.364-27C>G||||||,C|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|4/15|c.292-27C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2015;p3_1000G_AF=0.402356;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.3473;p3_1000G_AN=5008;p3_1000G_DP=18072;p3_1000G_EAS_AF=0.5278;p3_1000G_EUR_AF=0.4036;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15518731;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3671;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1526,2864;ESP6500_AA_GTC=280,966,949;ESP6500_CDS_SIZES=NM_080539.3:1266,NM_080538.2:1338,NM_005677.3:1368;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=30;ESP6500_EA_AC=3415,5165;ESP6500_EA_GTC=688,2039,1563;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080539.3:intron,NM_080538.2:intron,NM_005677.3:intron;ESP6500_GL=COLQ;ESP6500_GRCh38_POSITION=3:15477224;ESP6500_GTC=968,3005,2512;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_080539.3:c.292-27C>G,NM_080538.2:c.364-27C>G,NM_005677.3:c.394-27C>G;ESP6500_MAF=39.8019,34.7608,38.0956;ESP6500_TAC=4941,8029;CLINVAR_AF_ESP=0.3810;CLINVAR_AF_EXAC=0.45599;CLINVAR_AF_TGP=0.4024;CLINVAR_ALLELEID=250994;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.15477224G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=COLQ:8292;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2305612	GT:AD:DP:GQ:PL	0/1:4,15:19:99:404,0,112
chr3	15477334	rs13095087	G	A	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=0;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13095087;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|5/16|c.394-137C>T||||||,A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|5/16|c.364-137C>T||||||,A|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|4/15|c.292-137C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2436;p3_1000G_AF=0.486422;p3_1000G_AFR_AF=0.6218;p3_1000G_AMR_AF=0.3977;p3_1000G_AN=5008;p3_1000G_DP=18254;p3_1000G_EAS_AF=0.5159;p3_1000G_EUR_AF=0.4364;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15518841;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3875;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,104
chr3	15479132	rs2290538	T	G	303.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.59;ReadPosRankSum=-0.507;SOR=0.892;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290538;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|4/16|c.367-129A>C||||||,G|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|4/16|c.337-129A>C||||||,G|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|3/15|c.265-129A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=1241;p3_1000G_AF=0.247804;p3_1000G_AFR_AF=0.1528;p3_1000G_AMR_AF=0.2507;p3_1000G_AN=5008;p3_1000G_DP=19318;p3_1000G_EAS_AF=0.3016;p3_1000G_EUR_AF=0.3032;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15520639;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2618;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,12:40:99:332,0,857
chr3	15479170	rs2255897	G	T	248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.344;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.462;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=0.13;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2255897;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|4/16|c.367-167C>A||||||,T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|4/16|c.337-167C>A||||||,T|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|3/15|c.265-167C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1935;p3_1000G_AF=0.386382;p3_1000G_AFR_AF=0.3306;p3_1000G_AMR_AF=0.3386;p3_1000G_AN=5008;p3_1000G_DP=19449;p3_1000G_EAS_AF=0.5129;p3_1000G_EUR_AF=0.3996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15520677;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3517;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,10:29:99:277,0,630
chr3	15498469	rs141810796;rs532487737;rs60324043	C	CCACA	579.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.956;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-1.499;SOR=0.582;INS;HET;VARTYPE=INS;dbSNP138_ID=rs141810796;dbSNPBuildID=134,142,129;ANN=CCACA|upstream_gene_variant|MODIFIER|MIR4270|MIR4270|transcript|NR_036232.1|pseudogene||n.-2165_-2162dupTGTG|||||2162|,CCACA|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|1/16|c.107-8836_107-8833dupTGTG||||||,CCACA|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|1/16|c.76+39_76+42dupTGTG||||||,CCACA|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|1/15|c.107-8836_107-8833dupTGTG||||||;p3_1000G_AC=920;p3_1000G_AF=0.183706;p3_1000G_AFR_AF=0.1823;p3_1000G_AMR_AF=0.1455;p3_1000G_AN=5008;p3_1000G_DP=23675;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.0795;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15539976;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1636;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:22,17:39:99:617,0,1116
chr3	15498641	rs58156300	T	G	738.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.09;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.361;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.136;SOR=0.394;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58156300;dbSNPBuildID=129;ANN=G|5_prime_UTR_variant|MODIFIER|COLQ|COLQ|transcript|NM_080538.2|protein_coding|1/17|c.-54A>C|||||54|,G|upstream_gene_variant|MODIFIER|MIR4270|MIR4270|transcript|NR_036232.1|pseudogene||n.-2333A>C|||||2333|,G|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|1/16|c.107-9004A>C||||||,G|intron_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|1/15|c.107-9004A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=827;p3_1000G_AF=0.165136;p3_1000G_AFR_AF=0.1392;p3_1000G_AMR_AF=0.1412;p3_1000G_AN=5008;p3_1000G_DP=17950;p3_1000G_EAS_AF=0.3234;p3_1000G_EUR_AF=0.0716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15540148;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1503;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=178,1206;ESP6500_AA_GTC=9,160,523;ESP6500_CDS_SIZES=NM_080539.3:1266,NM_080538.2:1338,NM_005677.3:1368;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=84;ESP6500_EA_AC=226,2956;ESP6500_EA_GTC=5,216,1370;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080539.3:intron,NM_080538.2:utr-5,NM_005677.3:intron;ESP6500_GL=COLQ;ESP6500_GRCh38_POSITION=3:15498641;ESP6500_GTC=14,376,1893;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_080539.3:c.107-9004A>C,NM_080538.2:c.-54A>C,NM_005677.3:c.107-9004A>C;ESP6500_MAF=7.1025,12.8613,8.848;ESP6500_TAC=404,4162	GT:AD:DP:GQ:PL	0/1:21,26:47:99:767,0,569
chr3	15521671	rs73033051;343891	C	T	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.702;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=4.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=-1.244;SOR=1.942;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73033051;dbSNPBuildID=130;ANN=T|5_prime_UTR_variant|MODIFIER|COLQ|COLQ|transcript|NM_005677.3|protein_coding|1/17|c.-46G>A|||||46|,T|5_prime_UTR_variant|MODIFIER|COLQ|COLQ|transcript|NM_080539.3|protein_coding|1/16|c.-46G>A|||||46|;p3_1000G_AA=C|||;p3_1000G_AC=792;p3_1000G_AF=0.158147;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.1427;p3_1000G_AN=5008;p3_1000G_DP=15865;p3_1000G_EAS_AF=0.2966;p3_1000G_EUR_AF=0.0716;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15563178;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=508,3898;ESP6500_AA_AGE=231.7+/-245.5;ESP6500_AA_GTC=34,440,1729;ESP6500_CDS_SIZES=NM_080539.3:1266,NM_005677.3:1368;ESP6500_CG=-8.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=49;ESP6500_EA_AC=589,8011;ESP6500_EA_AGE=156.4+/-210.3;ESP6500_EA_GTC=20,549,3731;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_080539.3:utr-5,NM_005677.3:utr-5;ESP6500_GL=COLQ;ESP6500_GRCh38_POSITION=3:15521671;ESP6500_GTC=54,989,5460;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_080539.3:c.-46G>A,NM_005677.3:c.-46G>A;ESP6500_MAF=6.8488,11.5297,8.4346;ESP6500_TAC=1097,11909;CLINVAR_AF_ESP=0.0844;CLINVAR_AF_EXAC=0.10644;CLINVAR_AF_TGP=0.1582;CLINVAR_ALLELEID=289964;CLINVAR_CLNDISDB=MedGen:CN169374|MedGen:CN239337;CLINVAR_CLNDN=not_specified|Congenital_Myasthenic_Syndrome,_Recessive;CLINVAR_CLNHGVS=NC_000003.12:g.15521671C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:55373;CLINVAR_GENEINFO=COLQ:8292;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=73033051	GT:AD:DP:GQ:PL	0/1:24,11:35:99:264,0,659
chr3	15571772	rs56298314;rs200924343	T	G	110.88	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.792;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-0.366;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56298314;dbSNPBuildID=129;ANN=G|splice_region_variant&intron_variant|LOW|HACL1|HACL1|transcript|NM_012260.3|protein_coding|11/16|c.994-3A>C||||||,G|splice_region_variant&intron_variant|LOW|HACL1|HACL1|transcript|NM_001284413.1|protein_coding|10/15|c.913-3A>C||||||,G|splice_region_variant&intron_variant|LOW|HACL1|HACL1|transcript|NM_001284416.1|protein_coding|8/13|c.748-3A>C||||||,G|splice_region_variant&intron_variant|LOW|HACL1|HACL1|transcript|NR_104315.1|pseudogene|9/14|n.1204-3A>C||||||,G|intron_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284415.1|protein_coding|10/14|c.915+1387A>C||||||;p3_1000G_AC=875;p3_1000G_AF=0.17472;p3_1000G_AFR_AF=0.1067;p3_1000G_AMR_AF=0.1499;p3_1000G_AN=5008;p3_1000G_DP=16326;p3_1000G_EAS_AF=0.3651;p3_1000G_EUR_AF=0.0805;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15613279;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP,INDEL;ESP6500_AA=T;ESP6500_AA_AC=436,3970;ESP6500_AA_AGE=206.8+/-228.3;ESP6500_AA_GTC=27,382,1794;ESP6500_CDS_SIZES=NM_012260.2:1737;ESP6500_CG=-2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=75;ESP6500_EA_AC=728,7872;ESP6500_EA_AGE=176.0+/-226.0;ESP6500_EA_GTC=28,672,3600;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_012260.2:intron;ESP6500_GL=HACL1;ESP6500_GRCh38_POSITION=3:15571772;ESP6500_GTC=55,1054,5394;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_012260.2:c.994-3A>C;ESP6500_MAF=8.4651,9.8956,8.9497;ESP6500_TAC=1164,11842	GT:AD:DP:GQ:PL	0/1:1,6:7:16:139,0,16
chr3	15591492	rs11296184;rs398081912	GT	G	12.96	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.875;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.011;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs11296184;dbSNPBuildID=132,138;ANN=G|intron_variant|MODIFIER|HACL1|HACL1|transcript|NM_012260.3|protein_coding|4/16|c.308+107delA||||||,G|intron_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284413.1|protein_coding|3/15|c.228-1881delA||||||,G|intron_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284415.1|protein_coding|4/14|c.308+107delA||||||,G|intron_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284416.1|protein_coding|4/13|c.308+107delA||||||,G|intron_variant|MODIFIER|HACL1|HACL1|transcript|NR_104315.1|pseudogene|4/14|n.697+107delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1622;p3_1000G_AF=0.323882;p3_1000G_AFR_AF=0.6475;p3_1000G_AMR_AF=0.2017;p3_1000G_AN=5008;p3_1000G_DP=17791;p3_1000G_EAS_AF=0.3661;p3_1000G_EUR_AF=0.0885;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15632999;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,3:12:50:50,0,220
chr3	15601536	rs2019160	A	G	4357.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=133;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=0.739;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2019160;dbSNPBuildID=92;ANN=G|5_prime_UTR_variant|MODIFIER|HACL1|HACL1|transcript|NM_012260.3|protein_coding|1/17|c.-73T>C|||||73|,G|5_prime_UTR_variant|MODIFIER|BTD|BTD|transcript|NM_001281723.2|protein_coding|1/4|c.-185A>G|||||185|,G|5_prime_UTR_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284413.1|protein_coding|1/16|c.-73T>C|||||73|,G|5_prime_UTR_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284415.1|protein_coding|1/15|c.-73T>C|||||73|,G|5_prime_UTR_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284416.1|protein_coding|1/14|c.-73T>C|||||73|,G|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001281726.1|protein_coding||c.-315A>G|||||209|,G|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_000060.4|protein_coding||c.-315A>G|||||209|,G|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001281724.2|protein_coding||c.-29910A>G|||||209|,G|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001323582.1|protein_coding||c.-33904A>G|||||209|,G|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001281725.2|protein_coding||c.-33904A>G|||||433|,G|non_coding_transcript_exon_variant|MODIFIER|HACL1|HACL1|transcript|NR_104315.1|pseudogene|1/15|n.317T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4848;p3_1000G_AF=0.968051;p3_1000G_AFR_AF=0.997;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=19612;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=0.9304;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15643043;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.953;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4386,399,0
chr3	15601668	rs2279841	G	A	1038.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.811;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.372;SOR=0.758;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2279841;dbSNPBuildID=100;ANN=A|5_prime_UTR_premature_start_codon_gain_variant|LOW|HACL1|HACL1|transcript|NM_012260.3|protein_coding|1/17|c.-205C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|HACL1|HACL1|transcript|NM_001284413.1|protein_coding|1/16|c.-205C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|HACL1|HACL1|transcript|NM_001284415.1|protein_coding|1/15|c.-205C>T||||||,A|5_prime_UTR_premature_start_codon_gain_variant|LOW|HACL1|HACL1|transcript|NM_001284416.1|protein_coding|1/14|c.-205C>T||||||,A|5_prime_UTR_variant|MODIFIER|HACL1|HACL1|transcript|NM_012260.3|protein_coding|1/17|c.-205C>T|||||205|,A|5_prime_UTR_variant|MODIFIER|BTD|BTD|transcript|NM_001281723.2|protein_coding|1/4|c.-53G>A|||||53|,A|5_prime_UTR_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284413.1|protein_coding|1/16|c.-205C>T|||||205|,A|5_prime_UTR_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284415.1|protein_coding|1/15|c.-205C>T|||||205|,A|5_prime_UTR_variant|MODIFIER|HACL1|HACL1|transcript|NM_001284416.1|protein_coding|1/14|c.-205C>T|||||205|,A|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001281726.1|protein_coding||c.-183G>A|||||77|,A|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_000060.4|protein_coding||c.-183G>A|||||77|,A|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001281724.2|protein_coding||c.-29778G>A|||||77|,A|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001323582.1|protein_coding||c.-33772G>A|||||77|,A|upstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001281725.2|protein_coding||c.-33772G>A|||||301|,A|non_coding_transcript_exon_variant|MODIFIER|HACL1|HACL1|transcript|NR_104315.1|pseudogene|1/15|n.185C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=858;p3_1000G_AF=0.171326;p3_1000G_AFR_AF=0.1112;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=19332;p3_1000G_EAS_AF=0.3681;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15643175;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1718;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:45,40:85:99:1067,0,1222
chr3	15645269	rs3817641;25088	T	C	1222.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.93;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=5.438;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-1.069;SOR=0.789;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3817641;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|BTD|BTD|transcript|NM_001281723.2|protein_coding|4/4|c.1419T>C|p.Cys473Cys|1788/4153|1419/1638|473/545||,C|synonymous_variant|LOW|BTD|BTD|transcript|NM_000060.4|protein_coding|4/4|c.1413T>C|p.Cys471Cys|1519/3884|1413/1632|471/543||,C|synonymous_variant|LOW|BTD|BTD|transcript|NM_001281724.2|protein_coding|6/6|c.1419T>C|p.Cys473Cys|1707/4072|1419/1638|473/545||,C|synonymous_variant|LOW|BTD|BTD|transcript|NM_001323582.1|protein_coding|5/5|c.1353T>C|p.Cys451Cys|1795/4160|1353/1572|451/523||,C|synonymous_variant|LOW|BTD|BTD|transcript|NM_001281725.2|protein_coding|4/4|c.1353T>C|p.Cys451Cys|1711/4076|1353/1572|451/523||,C|downstream_gene_variant|MODIFIER|BTD|BTD|transcript|NM_001281726.1|protein_coding||c.*3131T>C|||||3017|;p3_1000G_AA=T|||;p3_1000G_AC=822;p3_1000G_AF=0.164137;p3_1000G_AFR_AF=0.0688;p3_1000G_AMR_AF=0.1326;p3_1000G_AN=5008;p3_1000G_DP=18703;p3_1000G_EAS_AF=0.378;p3_1000G_EUR_AF=0.0944;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15686776;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1667;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=309,4097;ESP6500_AA_AGE=166.5+/-197.7;ESP6500_AA_GTC=14,281,1908;ESP6500_CDS_SIZES=NM_000060.2:1632;ESP6500_CG=-2.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=100;ESP6500_EA_AC=765,7835;ESP6500_EA_AGE=183.3+/-231.6;ESP6500_EA_GTC=31,703,3566;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_000060.2:coding-synonymous;ESP6500_GL=BTD;ESP6500_GRCh38_POSITION=3:15645269;ESP6500_GTC=45,984,5474;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_000060.2:c.1413T>C;ESP6500_HGVS_PROTEIN_VAR=NM_000060.2:p.(C471);ESP6500_MAF=8.8953,7.0132,8.2577;ESP6500_TAC=1074,11932;CLINVAR_AF_ESP=0.0826;CLINVAR_AF_EXAC=0.12476;CLINVAR_AF_TGP=0.1641;CLINVAR_ALLELEID=36422;CLINVAR_CLNDISDB=MedGen:C0220754,OMIM:253260,Orphanet:ORPHA79241,SNOMED_CT:8808004|MedGen:CN169374;CLINVAR_CLNDN=Biotinidase_deficiency|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.15645269T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:55382;CLINVAR_GENEINFO=BTD:686;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3817641	GT:AD:DP:GQ:PL	0/1:46,41:87:99:1251,0,1259
chr3	15677145	rs2470540	T	A	133.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.611;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=4.26;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=0.703;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2470540;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|25/27|c.2701-89A>T||||||,A|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|23/25|c.2239-89A>T||||||,A|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|25/27|c.2239-89A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2376;p3_1000G_AF=0.474441;p3_1000G_AFR_AF=0.354;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=19406;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.5964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15718652;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:95:162,0,95
chr3	15686316	rs7630642	A	G	473.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.54;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.353;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.462;SOR=0.439;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7630642;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|18/27|c.1874-7T>C||||||,G|splice_region_variant&intron_variant|LOW|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|16/25|c.1412-7T>C||||||,G|splice_region_variant&intron_variant|LOW|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|18/27|c.1412-7T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1380;p3_1000G_AF=0.275559;p3_1000G_AFR_AF=0.2897;p3_1000G_AMR_AF=0.1715;p3_1000G_AN=5008;p3_1000G_DP=22014;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.0885;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15727823;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=913,2723;ESP6500_AA_GTC=126,661,1031;ESP6500_CDS_SIZES=NM_015199.3:3162,NM_001195099.1:2700,NM_001195098.1:2700;ESP6500_CG=0.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=69;ESP6500_EA_AC=677,7499;ESP6500_EA_GTC=36,605,3447;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015199.3:intron,NM_001195099.1:intron,NM_001195098.1:intron;ESP6500_GL=ANKRD28;ESP6500_GRCh38_POSITION=3:15686316;ESP6500_GTC=162,1266,4478;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015199.3:c.1874-7T>C,NM_001195099.1:c.1412-7T>C,NM_001195098.1:c.1412-7T>C;ESP6500_MAF=8.2803,25.11,13.4609;ESP6500_TAC=1590,10222	GT:AD:DP:GQ:PL	0/1:27,18:45:99:502,0,790
chr3	15694878	rs2455814	A	T	307.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2455814;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|MIR3134|MIR3134|transcript|NR_036085.1|pseudogene||n.*2420T>A|||||2420|,T|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|16/27|c.1597-65T>A||||||,T|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|14/25|c.1135-65T>A||||||,T|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|16/27|c.1135-65T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5004;p3_1000G_AF=0.999201;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=19967;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15736385;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1384,0;ESP6500_AA_GTC=692,0,0;ESP6500_CDS_SIZES=NM_015199.3:3162,NM_001195099.1:2700,NM_001195098.1:2700;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=89;ESP6500_EA_AC=3173,9;ESP6500_EA_GTC=1582,9,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015199.3:intron,NM_001195099.1:intron,NM_001195098.1:intron;ESP6500_GL=ANKRD28;ESP6500_GRCh38_POSITION=3:15694878;ESP6500_GTC=2274,9,0;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015199.3:c.1597-65T>A,NM_001195099.1:c.1135-65T>A,NM_001195098.1:c.1135-65T>A;ESP6500_MAF=0.2828,0.0,0.1971;ESP6500_TAC=4557,9	GT:AD:DP:GQ:PL	1/1:0,10:10:30:336,30,0
chr3	15696103	rs2470547	T	C	334.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.748;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2470547;dbSNPBuildID=100;ANN=C|downstream_gene_variant|MODIFIER|MIR3134|MIR3134|transcript|NR_036085.1|pseudogene||n.*1195A>G|||||1195|,C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|15/27|c.1569+31A>G||||||,C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|13/25|c.1107+31A>G||||||,C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|15/27|c.1107+31A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2068;p3_1000G_AF=0.412939;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=16283;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.6014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15737610;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=795,2855;ESP6500_AA_GTC=109,577,1139;ESP6500_CDS_SIZES=NM_015199.3:3162,NM_001195099.1:2700,NM_001195098.1:2700;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=4783,3359;ESP6500_EA_GTC=1434,1915,722;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015199.3:intron,NM_001195099.1:intron,NM_001195098.1:intron;ESP6500_GL=ANKRD28;ESP6500_GRCh38_POSITION=3:15696103;ESP6500_GTC=1543,2492,1861;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015199.3:c.1569+31A>G,NM_001195099.1:c.1107+31A>G,NM_001195098.1:c.1107+31A>G;ESP6500_MAF=41.2552,21.7808,47.3033;ESP6500_TAC=5578,6214	GT:AD:DP:GQ:PL	0/1:16,14:30:99:363,0,366
chr3	15696182	rs2470548	G	A	730.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.022;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.75;ReadPosRankSum=0.385;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2470548;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|15/28|c.1521C>T|p.Asn507Asn|1664/6339|1521/3162|507/1053||,A|synonymous_variant|LOW|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|13/26|c.1059C>T|p.Asn353Asn|1399/6074|1059/2700|353/899||,A|synonymous_variant|LOW|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|15/28|c.1059C>T|p.Asn353Asn|1708/6383|1059/2700|353/899||,A|downstream_gene_variant|MODIFIER|MIR3134|MIR3134|transcript|NR_036085.1|pseudogene||n.*1116C>T|||||1116|;p3_1000G_AA=A|||;p3_1000G_AC=2350;p3_1000G_AF=0.469249;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.6311;p3_1000G_AN=5008;p3_1000G_DP=16320;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.6034;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15737689;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4836;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1593,2179;ESP6500_AA_GTC=321,951,614;ESP6500_CDS_SIZES=NM_015199.3:3162,NM_001195099.1:2700,NM_001195098.1:2700;ESP6500_CG=1.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=100;ESP6500_EA_AC=4924,3306;ESP6500_EA_GTC=1485,1954,676;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015199.3:coding-synonymous,NM_001195099.1:coding-synonymous,NM_001195098.1:coding-synonymous;ESP6500_GL=ANKRD28;ESP6500_GRCh38_POSITION=3:15696182;ESP6500_GTC=1806,2905,1290;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015199.3:c.1521C>T,NM_001195099.1:c.1059C>T,NM_001195098.1:c.1059C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015199.3:p.(N507),NM_001195099.1:p.(N353),NM_001195098.1:p.(N353);ESP6500_MAF=40.1701,42.2322,45.7007;ESP6500_TAC=6517,5485	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,20:37:99:0|1:15696182_G_A:759,0,720
chr3	15696191	rs2470549	T	C	673.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.95;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=0.832;SOR=0.512;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2470549;dbSNPBuildID=100;ANN=C|synonymous_variant|LOW|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|15/28|c.1512A>G|p.Gln504Gln|1655/6339|1512/3162|504/1053||,C|synonymous_variant|LOW|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|13/26|c.1050A>G|p.Gln350Gln|1390/6074|1050/2700|350/899||,C|synonymous_variant|LOW|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|15/28|c.1050A>G|p.Gln350Gln|1699/6383|1050/2700|350/899||,C|sequence_feature|LOW|ANKRD28|ANKRD28|repeat:ANK_15|NM_015199.3|protein_coding|15/28|c.1512A>G||||||,C|downstream_gene_variant|MODIFIER|MIR3134|MIR3134|transcript|NR_036085.1|pseudogene||n.*1107A>G|||||1107|;p3_1000G_AA=T|||;p3_1000G_AC=2068;p3_1000G_AF=0.412939;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=16420;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.6014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15737698;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=815,2957;ESP6500_AA_GTC=108,599,1179;ESP6500_CDS_SIZES=NM_015199.3:3162,NM_001195099.1:2700,NM_001195098.1:2700;ESP6500_CG=0.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=98;ESP6500_EA_AC=4840,3386;ESP6500_EA_GTC=1439,1962,712;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015199.3:coding-synonymous,NM_001195099.1:coding-synonymous,NM_001195098.1:coding-synonymous;ESP6500_GL=ANKRD28;ESP6500_GRCh38_POSITION=3:15696191;ESP6500_GTC=1547,2561,1891;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015199.3:c.1512A>G,NM_001195099.1:c.1050A>G,NM_001195098.1:c.1050A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015199.3:p.(Q504),NM_001195099.1:p.(Q350),NM_001195098.1:p.(Q350);ESP6500_MAF=41.1622,21.6066,47.1329;ESP6500_TAC=5655,6343	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,18:36:99:0|1:15696182_G_A:702,0,733
chr3	15707845	rs2276751	T	C	330.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.302;SOR=1.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276751;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|14/27|c.1457+79A>G||||||,C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|12/25|c.995+79A>G||||||,C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|14/27|c.995+79A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1230;p3_1000G_AF=0.245607;p3_1000G_AFR_AF=0.1725;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=21849;p3_1000G_EAS_AF=0.5635;p3_1000G_EUR_AF=0.0875;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15749352;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2423;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:359,0,299
chr3	15711323	rs2455833	T	C	193.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.963;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=1.77;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2455833;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|11/27|c.1184-49A>G||||||,C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|9/25|c.722-49A>G||||||,C|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|11/27|c.722-49A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1986;p3_1000G_AF=0.396565;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.6037;p3_1000G_AN=5008;p3_1000G_DP=16570;p3_1000G_EAS_AF=0.3522;p3_1000G_EUR_AF=0.6024;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15752830;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=655,2981;ESP6500_AA_GTC=72,511,1235;ESP6500_CDS_SIZES=NM_015199.3:3162,NM_001195099.1:2700,NM_001195098.1:2700;ESP6500_CG=2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=37;ESP6500_EA_AC=4844,3306;ESP6500_EA_GTC=1447,1950,678;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015199.3:intron,NM_001195099.1:intron,NM_001195098.1:intron;ESP6500_GL=ANKRD28;ESP6500_GRCh38_POSITION=3:15711323;ESP6500_GTC=1519,2461,1913;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015199.3:c.1184-49A>G,NM_001195099.1:c.722-49A>G,NM_001195098.1:c.722-49A>G;ESP6500_MAF=40.5644,18.0143,46.6571;ESP6500_TAC=5499,6287	GT:AD:DP:GQ:PL	0/1:7,8:15:99:222,0,162
chr3	15714708	rs924754	A	T	146.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.02;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.344;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs924754;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|8/27|c.907-52T>A||||||,T|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195099.1|protein_coding|6/25|c.445-52T>A||||||,T|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|8/27|c.445-52T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2673;p3_1000G_AF=0.533746;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.6527;p3_1000G_AN=5008;p3_1000G_DP=14198;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.6093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15756215;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4959;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1084,780;ESP6500_AA_GTC=309,466,157;ESP6500_CDS_SIZES=NM_015199.3:3162,NM_001195099.1:2700,NM_001195098.1:2700;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=2505,1647;ESP6500_EA_GTC=770,965,341;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015199.3:intron,NM_001195099.1:intron,NM_001195098.1:intron;ESP6500_GL=ANKRD28;ESP6500_GRCh38_POSITION=3:15714708;ESP6500_GTC=1079,1431,498;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_015199.3:c.907-52T>A,NM_001195099.1:c.445-52T>A,NM_001195098.1:c.445-52T>A;ESP6500_MAF=39.6676,41.8455,40.3424;ESP6500_TAC=3589,2427	GT:AD:DP:GQ:PL	0/1:7,7:14:99:175,0,189
chr3	15766218	rs6789076	T	A	299.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.613;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.264;SOR=0.665;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6789076;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|3/27|c.190+16A>T||||||,A|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|3/27|c.-273+16A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2090;p3_1000G_AF=0.417332;p3_1000G_AFR_AF=0.1967;p3_1000G_AMR_AF=0.6081;p3_1000G_AN=5008;p3_1000G_DP=14767;p3_1000G_EAS_AF=0.3333;p3_1000G_EUR_AF=0.5944;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15807725;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4847;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=960,2704;ESP6500_AA_GTC=127,706,999;ESP6500_CDS_SIZES=NM_015199.3:3162,NM_001195098.1:2700;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=52;ESP6500_EA_AC=4817,3339;ESP6500_EA_GTC=1430,1957,691;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015199.3:intron,NM_001195098.1:intron;ESP6500_GL=ANKRD28;ESP6500_GRCh38_POSITION=3:15766218;ESP6500_GTC=1557,2663,1690;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_015199.3:c.190+16A>T,NM_001195098.1:c.-30721A>T;ESP6500_MAF=40.9392,26.2009,48.8748;ESP6500_TAC=5777,6043	GT:AD:DP:GQ:PL	0/1:13,17:30:99:328,0,277
chr3	15796643	rs144777884	GT	G	405.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.704;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.29;ReadPosRankSum=-1.391;SOR=1.708;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs144777884;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|1/27|c.28-1338delA||||||,G|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|1/27|c.-436+1327delA||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=1753;p3_1000G_AF=0.35004;p3_1000G_AFR_AF=0.2148;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=17372;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.1233;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15838150;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3344;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:1,12:13:99:443,202,242
chr3	15796643	.	GT	GTTT	405.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.704;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.29;ReadPosRankSum=-1.391;SOR=1.708;INS;HET;VARTYPE=INS;ANN=GTTT|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|1/27|c.28-1340_28-1339dupAA||||||,GTTT|intron_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_001195098.1|protein_coding|1/27|c.-436+1325_-436+1326dupAA||||||	GT:AD:DP:GQ:PL	0/1:1,7:8:99:443,272,476
chr3	15859466	rs62243667	A	C	647.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.212;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=1.154;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.313;SOR=0.466;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62243667;dbSNPBuildID=129;ANN=C|5_prime_UTR_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding|1/28|c.-63T>G|||||63|;p3_1000G_AA=C|||;p3_1000G_AC=2376;p3_1000G_AF=0.474441;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.634;p3_1000G_AN=5008;p3_1000G_DP=6920;p3_1000G_EAS_AF=0.3274;p3_1000G_EUR_AF=0.5974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=15900973;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5368;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,27:50:99:676,0,523
chr3	15859546	rs71064238	CT	C	286.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.17;SOR=4.407;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs71064238;dbSNPBuildID=130;ANN=C|upstream_gene_variant|MODIFIER|ANKRD28|ANKRD28|transcript|NM_015199.3|protein_coding||c.-144delA|||||1|,C|intergenic_region|MODIFIER|ANKRD28-MIR563|ANKRD28-MIR563|intergenic_region|ANKRD28-MIR563|||n.15859547delT||||||	GT:AD:DP:GQ:PL	1/1:0,8:8:24:324,24,0
chr3	16200594	rs3796301	C	T	170.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.511;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=1.94;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3796301;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|2/9|c.707-25C>T||||||,T|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|2/9|c.707-25C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=945;p3_1000G_AF=0.188698;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=21212;p3_1000G_EAS_AF=0.1885;p3_1000G_EUR_AF=0.1093;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16242101;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=672,3734;ESP6500_AA_AGE=726.4+/-409.7;ESP6500_AA_GTC=48,576,1579;ESP6500_CDS_SIZES=NM_054110.4:1920;ESP6500_CG=-4.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=31;ESP6500_EA_AC=1033,7567;ESP6500_EA_AGE=735.7+/-407.0;ESP6500_EA_GTC=55,923,3322;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_054110.4:intron;ESP6500_GL=GALNTL2;ESP6500_GRCh38_POSITION=3:16200594;ESP6500_GTC=103,1499,4901;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_054110.4:c.707-25C>T;ESP6500_MAF=12.0116,15.2519,13.1093;ESP6500_TAC=1705,11301	GT:AD:DP:GQ:PL	0/1:9,8:17:99:199,0,290
chr3	16208471	rs538260003	C	T	1296.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.263;ClippingRankSum=0;DP=85;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=0.526;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|3/9|c.912-32C>T||||||,T|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|3/9|c.912-32C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1;p3_1000G_AF=0.000199681;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17891;p3_1000G_EAS_AF=0.001;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16249978;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,58:85:99:1325,0,628
chr3	16208491	rs1505609	A	T	525.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.68;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=1.927;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=-0.266;SOR=0.933;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1505609;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|3/9|c.912-12A>T||||||,T|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|3/9|c.912-12A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1165;p3_1000G_AF=0.232628;p3_1000G_AFR_AF=0.3442;p3_1000G_AMR_AF=0.1873;p3_1000G_AN=5008;p3_1000G_DP=18481;p3_1000G_EAS_AF=0.1905;p3_1000G_EUR_AF=0.1163;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16249998;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2771;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1305,3101;ESP6500_AA_AGE=440.2+/-345.9;ESP6500_AA_GTC=197,911,1095;ESP6500_CDS_SIZES=NM_054110.4:1920;ESP6500_CG=-9.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=150;ESP6500_EA_AC=945,7655;ESP6500_EA_AGE=207.6+/-249.3;ESP6500_EA_GTC=66,813,3421;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_054110.4:intron;ESP6500_GL=GALNTL2;ESP6500_GRCh38_POSITION=3:16208491;ESP6500_GTC=263,1724,4516;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_054110.4:c.912-12A>T;ESP6500_MAF=10.9884,29.6187,17.2997;ESP6500_TAC=2250,10756	GT:AD:DP:GQ:PL	0/1:54,26:80:99:554,0,1282
chr3	16219913	rs2271077	C	T	500.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.059;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.342;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.144;SOR=1.089;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2271077;dbSNPBuildID=100;ANN=T|missense_variant|MODERATE|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|8/10|c.1528C>T|p.His510Tyr|2003/4641|1528/1920|510/639||,T|missense_variant|MODERATE|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|8/10|c.1528C>T|p.His510Tyr|2358/2803|1528/1854|510/617||,T|missense_variant|MODERATE|GALNT15|GALNT15|transcript|NM_001319052.1|protein_coding|3/5|c.118C>T|p.His40Tyr|262/3319|118/510|40/169||;p3_1000G_AA=C|||;p3_1000G_AC=719;p3_1000G_AF=0.14357;p3_1000G_AFR_AF=0.1475;p3_1000G_AMR_AF=0.0735;p3_1000G_AN=5008;p3_1000G_DP=22423;p3_1000G_EAS_AF=0.1895;p3_1000G_EUR_AF=0.0557;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16261420;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=546,3860;ESP6500_AA_AGE=246.2+/-254.9;ESP6500_AA_GTC=26,494,1683;ESP6500_CDS_SIZES=NM_054110.4:1920;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=201;ESP6500_EA_AC=507,8093;ESP6500_EA_AGE=145.0+/-200.8;ESP6500_EA_GTC=18,471,3811;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_054110.4:missense;ESP6500_GL=GALNTL2;ESP6500_GRCh38_POSITION=3:16219913;ESP6500_GS=83;ESP6500_GTC=44,965,5494;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_054110.4:c.1528C>T;ESP6500_HGVS_PROTEIN_VAR=NM_054110.4:p.(H510Y);ESP6500_MAF=5.8953,12.3922,8.0963;ESP6500_PH=benign:0.01;ESP6500_TAC=1053,11953	GT:AD:DP:GQ:PL	0/1:33,22:55:99:529,0,911
chr3	16222530	rs2292169	T	A	265.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.54;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.44;ReadPosRankSum=-0.914;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2292169;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|8/9|c.1630-85T>A||||||,A|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|8/9|c.1630-85T>A||||||,A|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319052.1|protein_coding|3/4|c.220-85T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=765;p3_1000G_AF=0.152756;p3_1000G_AFR_AF=0.1074;p3_1000G_AMR_AF=0.1945;p3_1000G_AN=5008;p3_1000G_DP=21770;p3_1000G_EAS_AF=0.2252;p3_1000G_EUR_AF=0.1541;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16264037;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1084;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,10:13:80:294,0,80
chr3	16227262	rs1394908	C	G	66.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.266;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.14;ReadPosRankSum=-2.423;SOR=0.836;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1394908;dbSNPBuildID=88;ANN=G|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|9/9|c.1774-92C>G||||||,G|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|9/9|c.1773+4504C>G||||||,G|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319052.1|protein_coding|4/4|c.364-92C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=625;p3_1000G_AF=0.1248;p3_1000G_AFR_AF=0.059;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=19732;p3_1000G_EAS_AF=0.1667;p3_1000G_EUR_AF=0.1431;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16268769;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:95:95,0,265
chr3	16227467	rs15767	T	A	326.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.073;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=2.03;SOR=0.543;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs15767;dbSNPBuildID=87;ANN=A|synonymous_variant|LOW|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|10/10|c.1887T>A|p.Arg629Arg|2362/4641|1887/1920|629/639||,A|synonymous_variant|LOW|GALNT15|GALNT15|transcript|NM_001319052.1|protein_coding|5/5|c.477T>A|p.Arg159Arg|621/3319|477/510|159/169||,A|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|9/9|c.1774-4326T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1808;p3_1000G_AF=0.361022;p3_1000G_AFR_AF=0.5287;p3_1000G_AMR_AF=0.3876;p3_1000G_AN=5008;p3_1000G_DP=18046;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.3887;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16268974;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2495;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2148,2258;ESP6500_AA_AGE=596.7+/-388.7;ESP6500_AA_GTC=516,1116,571;ESP6500_CDS_SIZES=NM_054110.4:1920;ESP6500_CG=-2.8;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=123;ESP6500_EA_AC=3240,5360;ESP6500_EA_AGE=650.3+/-400.7;ESP6500_EA_GTC=610,2020,1670;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_054110.4:coding-synonymous;ESP6500_GL=GALNTL2;ESP6500_GRCh38_POSITION=3:16227467;ESP6500_GTC=1126,3136,2241;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_054110.4:c.1887T>A;ESP6500_HGVS_PROTEIN_VAR=NM_054110.4:p.(R629);ESP6500_MAF=37.6744,48.7517,41.427;ESP6500_TAC=5388,7618	GT:AD:DP:GQ:PL	0/1:28,17:45:99:355,0,674
chr3	16227479	rs14576	C	A	328.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.082;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.185;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=1.67;SOR=0.486;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs14576;dbSNPBuildID=52;ANN=A|synonymous_variant|LOW|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|10/10|c.1899C>A|p.Ile633Ile|2374/4641|1899/1920|633/639||,A|synonymous_variant|LOW|GALNT15|GALNT15|transcript|NM_001319052.1|protein_coding|5/5|c.489C>A|p.Ile163Ile|633/3319|489/510|163/169||,A|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|9/9|c.1774-4314C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1470;p3_1000G_AF=0.29353;p3_1000G_AFR_AF=0.3359;p3_1000G_AMR_AF=0.3516;p3_1000G_AN=5008;p3_1000G_DP=18243;p3_1000G_EAS_AF=0.2034;p3_1000G_EUR_AF=0.3598;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16268986;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2198;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1431,2975;ESP6500_AA_AGE=465.1+/-354.1;ESP6500_AA_GTC=232,967,1004;ESP6500_CDS_SIZES=NM_054110.4:1920;ESP6500_CG=5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=120;ESP6500_EA_AC=3065,5535;ESP6500_EA_AGE=470.3+/-367.8;ESP6500_EA_GTC=554,1957,1789;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_054110.4:coding-synonymous;ESP6500_GL=GALNTL2;ESP6500_GRCh38_POSITION=3:16227479;ESP6500_GTC=786,2924,2793;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_054110.4:c.1899C>A;ESP6500_HGVS_PROTEIN_VAR=NM_054110.4:p.(I633);ESP6500_MAF=35.6395,32.4784,34.5687;ESP6500_TAC=4496,8510	GT:AD:DP:GQ:PL	0/1:26,18:44:99:357,0,659
chr3	16227694	rs4035393;rs534938899	TAA	T	107.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=28.6;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs10598499,rs4035393;dbSNPBuildID=108,142;ANN=T|3_prime_UTR_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_054110.4|protein_coding|10/10|c.*208_*209delAA|||||208|INFO_REALIGN_3_PRIME,T|3_prime_UTR_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319052.1|protein_coding|5/5|c.*208_*209delAA|||||208|INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|GALNT15|GALNT15|transcript|NM_001319051.1|protein_coding|9/9|c.1774-4085_1774-4084delAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=3289;p3_1000G_AF=0.656749;p3_1000G_AFR_AF=0.531;p3_1000G_AMR_AF=0.6225;p3_1000G_AN=5008;p3_1000G_DP=18461;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.6103;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16269201;p3_1000G_GRCH37_REF=TAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:108,9,0
chr3	16264167	rs14080	C	G	513.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.716;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.561;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs14080;dbSNPBuildID=129;ANN=G|synonymous_variant|LOW|DPH3|DPH3|transcript|NM_206831.2|protein_coding|2/3|c.171G>C|p.Val57Val|284/4065|171/249|57/82||,G|upstream_gene_variant|MODIFIER|OXNAD1|OXNAD1|transcript|NM_138381.3|protein_coding||c.-6786C>G|||||993|,G|intron_variant|MODIFIER|DPH3|DPH3|transcript|NM_001047434.2|protein_coding|1/1|c.108+602G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2172;p3_1000G_AF=0.433706;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=17298;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16305674;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1546,2860;ESP6500_AA_AGE=483.5+/-359.7;ESP6500_AA_GTC=274,998,931;ESP6500_CDS_SIZES=NM_206831.2:249,NM_001047434.2:174;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=102;ESP6500_EA_AC=3648,4952;ESP6500_EA_AGE=520.9+/-379.8;ESP6500_EA_GTC=782,2084,1434;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_206831.2:coding-synonymous,NM_001047434.2:intron;ESP6500_GL=DPH3;ESP6500_GRCh38_POSITION=3:16264167;ESP6500_GTC=1056,3082,2365;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_206831.2:c.171G>C,NM_001047434.2:c.108+602G>C;ESP6500_HGVS_PROTEIN_VAR=NM_206831.2:p.(V57),.;ESP6500_MAF=42.4186,35.0885,39.9354;ESP6500_TAC=5194,7812	GT:AD:DP:GQ:PL	0/1:25,19:44:99:542,0,650
chr3	16269350	rs842258	G	A	519.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.165;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.987;SOR=0.62;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs842258;dbSNPBuildID=86;ANN=A|upstream_gene_variant|MODIFIER|DPH3|DPH3|transcript|NM_206831.2|protein_coding||c.-4474C>T|||||4361|,A|upstream_gene_variant|MODIFIER|DPH3|DPH3|transcript|NM_001047434.2|protein_coding||c.-4474C>T|||||4361|,A|intron_variant|MODIFIER|OXNAD1|OXNAD1|transcript|NM_138381.3|protein_coding|2/8|c.-9+75G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2838;p3_1000G_AF=0.566693;p3_1000G_AFR_AF=0.6936;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=20221;p3_1000G_EAS_AF=0.5248;p3_1000G_EUR_AF=0.5676;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16310857;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4642;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,24:52:99:548,0,728
chr3	16271057	rs842259	C	T	726.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.086;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=7.446;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=0.09;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs842259;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|OXNAD1|OXNAD1|transcript|NM_138381.3|protein_coding|3/9|c.105C>T|p.His35His|609/3968|105/939|35/312||;p3_1000G_AA=C|||;p3_1000G_AC=2107;p3_1000G_AF=0.420727;p3_1000G_AFR_AF=0.2617;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=17886;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.4324;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16312564;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1361,3045;ESP6500_AA_AGE=450.8+/-349.5;ESP6500_AA_GTC=221,919,1063;ESP6500_CDS_SIZES=NM_138381.3:939;ESP6500_CG=3.0;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=150;ESP6500_EA_AC=3655,4945;ESP6500_EA_AGE=526.1+/-380.9;ESP6500_EA_GTC=787,2081,1432;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138381.3:coding-synonymous;ESP6500_GL=OXNAD1;ESP6500_GRCh38_POSITION=3:16271057;ESP6500_GTC=1008,3000,2495;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138381.3:c.105C>T;ESP6500_HGVS_PROTEIN_VAR=NM_138381.3:p.(H35);ESP6500_MAF=42.5,30.8897,38.5668;ESP6500_TAC=5016,7990	GT:AD:DP:GQ:PL	0/1:12,30:42:99:755,0,313
chr3	16286348	rs842274	T	G	689.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.3;ClippingRankSum=0;DP=71;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.42;SOR=0.687;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs842274;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|OXNAD1|OXNAD1|transcript|NM_138381.3|protein_coding|5/9|c.190T>G|p.Ser64Ala|694/3968|190/939|64/312||;p3_1000G_AA=T|||;p3_1000G_AC=2169;p3_1000G_AF=0.433107;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=17571;p3_1000G_EAS_AF=0.4762;p3_1000G_EUR_AF=0.4334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16327855;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5337;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1547,2859;ESP6500_AA_AGE=484.4+/-360.0;ESP6500_AA_GTC=274,999,930;ESP6500_CDS_SIZES=NM_138381.3:939;ESP6500_CG=2.9;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=162;ESP6500_EA_AC=3655,4945;ESP6500_EA_AGE=524.7+/-380.6;ESP6500_EA_GTC=788,2079,1433;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_138381.3:missense;ESP6500_GL=OXNAD1;ESP6500_GRCh38_POSITION=3:16286348;ESP6500_GS=99;ESP6500_GTC=1062,3078,2363;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_138381.3:c.190T>G;ESP6500_HGVS_PROTEIN_VAR=NM_138381.3:p.(S64A);ESP6500_MAF=42.5,35.1112,39.9969;ESP6500_PH=benign:0.003;ESP6500_TAC=5202,7804	GT:AD:DP:GQ:PL	0/1:42,28:70:99:718,0,1018
chr3	16301585	rs842283	T	G	153.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-2.298;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs842283;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|OXNAD1|OXNAD1|transcript|NM_138381.3|protein_coding|6/8|c.433-41T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3581;p3_1000G_AF=0.715056;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=21065;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.6322;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16343092;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6963;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3702,704;ESP6500_AA_AGE=292.4+/-282.0;ESP6500_AA_GTC=1554,594,55;ESP6500_CDS_SIZES=NM_138381.3:939;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=54;ESP6500_EA_AC=5360,3240;ESP6500_EA_AGE=480.8+/-370.5;ESP6500_EA_GTC=1678,2004,618;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138381.3:intron;ESP6500_GL=OXNAD1;ESP6500_GRCh38_POSITION=3:16301585;ESP6500_GTC=3232,2598,673;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_138381.3:c.433-41T>G;ESP6500_MAF=37.6744,15.9782,30.3245;ESP6500_TAC=9062,3944	GT:AD:DP:GQ:PL	0/1:7,6:13:99:182,0,198
chr3	16317077	rs690241	T	C	620.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.511;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.629;SOR=0.895;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs690241;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|RFTN1|RFTN1|transcript|NM_015150.1|protein_coding|10/10|c.1488A>G|p.Ser496Ser|1770/3002|1488/1737|496/578||;p3_1000G_AA=C|||;p3_1000G_AC=2878;p3_1000G_AF=0.574681;p3_1000G_AFR_AF=0.7375;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=19821;p3_1000G_EAS_AF=0.5099;p3_1000G_EUR_AF=0.5596;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16358584;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3038,1368;ESP6500_AA_AGE=452.2+/-349.9;ESP6500_AA_GTC=1058,922,223;ESP6500_CDS_SIZES=NM_015150.1:1737;ESP6500_CG=-9.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=124;ESP6500_EA_AC=4836,3764;ESP6500_EA_AGE=535.6+/-382.8;ESP6500_EA_GTC=1364,2108,828;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015150.1:coding-synonymous;ESP6500_GL=RFTN1;ESP6500_GRCh38_POSITION=3:16317077;ESP6500_GTC=2422,3030,1051;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015150.1:c.1488A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015150.1:p.(S496);ESP6500_MAF=43.7674,31.0486,39.4587;ESP6500_TAC=7874,5132	GT:AD:DP:GQ:PL	0/1:38,26:64:99:649,0,935
chr3	16323412	rs690216	A	C	430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.601;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.194;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.18;SOR=0.857;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs690216;dbSNPBuildID=83;ANN=C|synonymous_variant|LOW|RFTN1|RFTN1|transcript|NM_015150.1|protein_coding|9/10|c.1296T>G|p.Pro432Pro|1578/3002|1296/1737|432/578||;p3_1000G_AA=C|||;p3_1000G_AC=2891;p3_1000G_AF=0.577276;p3_1000G_AFR_AF=0.7375;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=20763;p3_1000G_EAS_AF=0.5149;p3_1000G_EUR_AF=0.5626;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16364919;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4683;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3032,1374;ESP6500_AA_AGE=453.6+/-350.4;ESP6500_AA_GTC=1050,932,221;ESP6500_CDS_SIZES=NM_015150.1:1737;ESP6500_CG=-10.7;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=103;ESP6500_EA_AC=4818,3782;ESP6500_EA_AGE=537.1+/-383.1;ESP6500_EA_GTC=1359,2100,841;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015150.1:coding-synonymous;ESP6500_GL=RFTN1;ESP6500_GRCh38_POSITION=3:16323412;ESP6500_GTC=2409,3032,1062;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_015150.1:c.1296T>G;ESP6500_HGVS_PROTEIN_VAR=NM_015150.1:p.(P432);ESP6500_MAF=43.9767,31.1847,39.6432;ESP6500_TAC=7850,5156	GT:AD:DP:GQ:PL	0/1:25,18:43:99:459,0,663
chr3	16357909	rs115463599	G	A	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.493;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.685;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.759;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs115463599;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|RFTN1|RFTN1|transcript|NM_015150.1|protein_coding|7/9|c.1146+23C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=83;p3_1000G_AF=0.0165735;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=17629;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0.0209;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16399416;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=27,4379;ESP6500_AA_AGE=36.0+/-67.5;ESP6500_AA_GTC=0,27,2176;ESP6500_CDS_SIZES=NM_015150.1:1737;ESP6500_CG=-10.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=120;ESP6500_EA_AC=239,8361;ESP6500_EA_AGE=96.3+/-158.1;ESP6500_EA_GTC=5,229,4066;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015150.1:intron;ESP6500_GL=RFTN1;ESP6500_GRCh38_POSITION=3:16357909;ESP6500_GTC=5,256,6242;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_015150.1:c.1146+23C>T;ESP6500_MAF=2.7791,0.6128,2.0452;ESP6500_TAC=266,12740	GT:AD:DP:GQ:PL	0/1:10,14:24:99:344,0,231
chr3	16378201	rs690317	G	A	1164.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.28;SOR=2.964;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs690317;dbSNPBuildID=83;ANN=A|intron_variant|MODIFIER|RFTN1|RFTN1|transcript|NM_015150.1|protein_coding|4/9|c.442-99C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3803;p3_1000G_AF=0.759385;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.7695;p3_1000G_AN=5008;p3_1000G_DP=19605;p3_1000G_EAS_AF=0.5506;p3_1000G_EUR_AF=0.8072;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16419708;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1193,105,0
chr3	16433749	rs2303851	A	G	291.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.25;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.667;SOR=0.984;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303851;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|RFTN1|RFTN1|transcript|NM_015150.1|protein_coding|3/9|c.332+102T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=375;p3_1000G_AF=0.0748802;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=19540;p3_1000G_EAS_AF=0.1171;p3_1000G_EUR_AF=0.1461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16475256;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0429;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,12:33:99:1|0:16433746_A_C:320,0,601
chr3	16493722	rs3815962	C	T	323.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.34;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.834;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.365;SOR=1.015;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3815962;dbSNPBuildID=107;ANN=T|splice_region_variant&intron_variant|LOW|RFTN1|RFTN1|transcript|NM_015150.1|protein_coding|2/9|c.145+3G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2006;p3_1000G_AF=0.400559;p3_1000G_AFR_AF=0.3608;p3_1000G_AMR_AF=0.4568;p3_1000G_AN=5008;p3_1000G_DP=9762;p3_1000G_EAS_AF=0.3879;p3_1000G_EUR_AF=0.3529;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16535229;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1628,2778;ESP6500_AA_AGE=499.6+/-364.5;ESP6500_AA_GTC=282,1064,857;ESP6500_CDS_SIZES=NM_015150.1:1737;ESP6500_CG=2.2;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=148;ESP6500_EA_AC=3152,5448;ESP6500_EA_AGE=479.0+/-370.0;ESP6500_EA_GTC=586,1980,1734;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015150.1:intron;ESP6500_GL=RFTN1;ESP6500_GRCh38_POSITION=3:16493722;ESP6500_GTC=868,3044,2591;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015150.1:c.145+3G>A;ESP6500_MAF=36.6512,36.9496,36.7523;ESP6500_TAC=4780,8226	GT:AD:DP:GQ:PL	0/1:10,13:23:99:352,0,215
chr3	16592157	rs57842038	C	T	594.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.026;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.433;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.439;SOR=1.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57842038;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001190811.1|protein_coding|9/10|c.796-9G>A||||||,T|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001351.3|protein_coding|9/10|c.736-9G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1066;p3_1000G_AF=0.212859;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=18929;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16633664;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=532,3874;ESP6500_AA_AGE=240.3+/-251.1;ESP6500_AA_GTC=42,448,1713;ESP6500_CDS_SIZES=NM_001351.3:888,NM_001190811.1:948;ESP6500_CG=2.9;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=230;ESP6500_EA_AC=967,7633;ESP6500_EA_AGE=210.0+/-251.0;ESP6500_EA_GTC=53,861,3386;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001351.3:intron,NM_001190811.1:intron;ESP6500_GL=DAZL;ESP6500_GRCh38_POSITION=3:16592157;ESP6500_GTC=95,1309,5099;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001351.3:c.736-9G>A,NM_001190811.1:c.796-9G>A;ESP6500_MAF=11.2442,12.0744,11.5254;ESP6500_TAC=1499,11507	GT:AD:DP:GQ:PL	0/1:33,26:59:99:623,0,964
chr3	16592295	rs60830150	G	A	26.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.834;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=0.431;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs60830150;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001190811.1|protein_coding|9/10|c.796-147C>T||||||,A|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001351.3|protein_coding|9/10|c.736-147C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1066;p3_1000G_AF=0.212859;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=17499;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16633802;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:55:55,0,153
chr3	16595278	rs2303590	T	C	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.39;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.912;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303590;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001190811.1|protein_coding|7/10|c.630+36A>G||||||,C|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001351.3|protein_coding|7/10|c.570+36A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1066;p3_1000G_AF=0.212859;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=13234;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16636785;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=469,3513;ESP6500_AA_GTC=37,395,1559;ESP6500_CDS_SIZES=NM_001351.3:888,NM_001190811.1:948;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=920,7470;ESP6500_EA_GTC=49,822,3324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001351.3:intron,NM_001190811.1:intron;ESP6500_GL=DAZL;ESP6500_GRCh38_POSITION=3:16595278;ESP6500_GTC=86,1217,4883;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001351.3:c.570+36A>G,NM_001190811.1:c.630+36A>G;ESP6500_MAF=10.9654,11.778,11.227;ESP6500_TAC=1389,10983	GT:AD:DP:GQ:PL	0/1:10,12:22:99:266,0,181
chr3	16596960	rs2303591	A	G	501.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.69;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.405;SOR=0.534;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303591;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001190811.1|protein_coding|5/10|c.418+28T>C||||||,G|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001351.3|protein_coding|5/10|c.358+28T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=1066;p3_1000G_AF=0.212859;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=19551;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16638467;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=453,3437;ESP6500_AA_GTC=33,387,1525;ESP6500_CDS_SIZES=NM_001351.3:888,NM_001190811.1:948;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=65;ESP6500_EA_AC=923,7421;ESP6500_EA_GTC=48,827,3297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001351.3:intron,NM_001190811.1:intron;ESP6500_GL=DAZL;ESP6500_GRCh38_POSITION=3:16596960;ESP6500_GTC=81,1214,4822;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001351.3:c.358+28T>C,NM_001190811.1:c.418+28T>C;ESP6500_MAF=11.0618,11.6452,11.2473;ESP6500_TAC=1376,10858	GT:AD:DP:GQ:PL	0/1:25,18:43:99:530,0,674
chr3	16597456	rs74208885	T	G	732.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=2.8;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=0.913;SOR=1.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74208885;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001190811.1|protein_coding|4/10|c.354+34A>C||||||,G|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001351.3|protein_coding|4/10|c.294+34A>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=1066;p3_1000G_AF=0.212859;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.245;p3_1000G_AN=5008;p3_1000G_DP=19802;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16638963;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1851;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=433,3201;ESP6500_AA_GTC=34,365,1418;ESP6500_CDS_SIZES=NM_001351.3:888,NM_001190811.1:948;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=127;ESP6500_EA_AC=906,7250;ESP6500_EA_GTC=46,814,3218;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001351.3:intron,NM_001190811.1:intron;ESP6500_GL=DAZL;ESP6500_GRCh38_POSITION=3:16597456;ESP6500_GTC=80,1179,4636;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_001351.3:c.294+34A>C,NM_001190811.1:c.354+34A>C;ESP6500_MAF=11.1084,11.9152,11.3571;ESP6500_TAC=1339,10451	GT:AD:DP:GQ:PL	0/1:18,26:44:99:761,0,413
chr3	16597639	rs74193997	T	C	582.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.56;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.81;ReadPosRankSum=-1.294;SOR=1.264;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs74193997;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001190811.1|protein_coding|3/10|c.303-98A>G||||||,C|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001351.3|protein_coding|3/10|c.243-98A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1052;p3_1000G_AF=0.210064;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.2435;p3_1000G_AN=5008;p3_1000G_DP=18280;p3_1000G_EAS_AF=0.4752;p3_1000G_EUR_AF=0.1014;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16639146;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,19:28:99:611,0,224
chr3	16604364	rs77110037	G	C	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.783;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-0.221;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77110037;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001190811.1|protein_coding|1/10|c.63+76C>G||||||,C|intron_variant|MODIFIER|DAZL|DAZL|transcript|NM_001351.3|protein_coding|1/10|c.3+839C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1052;p3_1000G_AF=0.210064;p3_1000G_AFR_AF=0.1006;p3_1000G_AMR_AF=0.2421;p3_1000G_AN=5008;p3_1000G_DP=15262;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.0944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16645871;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,5:13:99:127,0,194
chr3	16605238	rs9847342	C	G	1692.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.21;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9847342;dbSNPBuildID=119;ANN=G|5_prime_UTR_variant|MODIFIER|DAZL|DAZL|transcript|NM_001351.3|protein_coding|1/11|c.-33G>C|||||33|,G|upstream_gene_variant|MODIFIER|DAZL|DAZL|transcript|NM_001190811.1|protein_coding||c.-736G>C|||||448|;p3_1000G_AA=G|||;p3_1000G_AC=4846;p3_1000G_AF=0.967652;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9582;p3_1000G_AN=5008;p3_1000G_DP=12078;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.8926;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16646745;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9816;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4275,95;ESP6500_AA_AGE=68.7+/-106.4;ESP6500_AA_GTC=2092,91,2;ESP6500_CDS_SIZES=NM_001351.3:888;ESP6500_CG=3.0;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=59;ESP6500_EA_AC=7835,757;ESP6500_EA_AGE=178.6+/-228.0;ESP6500_EA_GTC=3570,695,31;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001351.3:utr-5;ESP6500_GL=DAZL;ESP6500_GRCh38_POSITION=3:16605238;ESP6500_GTC=5662,786,33;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001351.3:c.-33G>C;ESP6500_MAF=8.8105,2.1739,6.5731;ESP6500_TAC=12110,852	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1721,180,0
chr3	16638099	rs1025254	T	C	746.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.57;SOR=5.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1025254;dbSNPBuildID=86;ANN=C|intergenic_region|MODIFIER|DAZL-PLCL2|DAZL-PLCL2|intergenic_region|DAZL-PLCL2|||n.16638099T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4116;p3_1000G_AF=0.821885;p3_1000G_AFR_AF=0.9826;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=22220;p3_1000G_EAS_AF=0.5942;p3_1000G_EUR_AF=0.831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=16679606;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:775,54,0
chr3	17009836	rs7653834	T	C	1461.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.83;SOR=1.007;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7653834;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|PLCL2|PLCL2|transcript|NM_001144382.1|protein_coding|2/6|c.490T>C|p.Leu164Leu|571/4159|490/3384|164/1127||,C|synonymous_variant|LOW|PLCL2|PLCL2|transcript|NM_015184.5|protein_coding|2/6|c.112T>C|p.Leu38Leu|365/3953|112/3006|38/1001||;p3_1000G_AA=T|||;p3_1000G_AC=2268;p3_1000G_AF=0.452875;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=19008;p3_1000G_EAS_AF=0.5466;p3_1000G_EUR_AF=0.3211;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17051328;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5348;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2111,2295;ESP6500_AA_AGE=574.3+/-383.7;ESP6500_AA_GTC=492,1127,584;ESP6500_CDS_SIZES=NM_015184.5:3006,NM_001144382.1:3388;ESP6500_CG=3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=2763,5837;ESP6500_EA_AGE=438.4+/-358.9;ESP6500_EA_GTC=459,1845,1996;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015184.5:coding-synonymous,NM_001144382.1:coding-synonymous;ESP6500_GL=PLCL2;ESP6500_GRCh38_POSITION=3:17009836;ESP6500_GTC=951,2972,2580;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015184.5:c.112T>C,NM_001144382.1:c.494T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015184.5:p.(L38),NM_001144382.1:p.(F164);ESP6500_MAF=32.1279,47.9119,37.475;ESP6500_TAC=4874,8132	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1490,146,0
chr3	17012007	rs4602367	A	G	2163.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.81;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4602367;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|PLCL2|PLCL2|transcript|NM_001144382.1|protein_coding|2/6|c.2661A>G|p.Gly887Gly|2742/4159|2661/3384|887/1127||,G|synonymous_variant|LOW|PLCL2|PLCL2|transcript|NM_015184.5|protein_coding|2/6|c.2283A>G|p.Gly761Gly|2536/3953|2283/3006|761/1001||;p3_1000G_AA=G|||;p3_1000G_AC=3116;p3_1000G_AF=0.622204;p3_1000G_AFR_AF=0.674;p3_1000G_AMR_AF=0.5821;p3_1000G_AN=5008;p3_1000G_DP=17772;p3_1000G_EAS_AF=0.626;p3_1000G_EUR_AF=0.5338;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17053499;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2794,1612;ESP6500_AA_AGE=496.5+/-363.6;ESP6500_AA_GTC=866,1062,275;ESP6500_CDS_SIZES=NM_015184.5:3006,NM_001144382.1:3388;ESP6500_CG=3.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=99;ESP6500_EA_AC=4537,4063;ESP6500_EA_AGE=557.6+/-387.1;ESP6500_EA_GTC=1208,2121,971;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015184.5:coding-synonymous,NM_001144382.1:coding-synonymous;ESP6500_GL=PLCL2;ESP6500_GRCh38_POSITION=3:17012007;ESP6500_GTC=2074,3183,1246;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015184.5:c.2283A>G,NM_001144382.1:c.2665A>G;ESP6500_HGVS_PROTEIN_VAR=NM_015184.5:p.(G761),NM_001144382.1:p.(K887);ESP6500_MAF=47.2442,36.5865,43.6337;ESP6500_TAC=7331,5675	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2192,192,0
chr3	17160842	rs13078644	A	C	339.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.89;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13078644;dbSNPBuildID=121;ANN=C|3_prime_UTR_variant|MODIFIER|TBC1D5|TBC1D5|transcript|NM_001134381.1|protein_coding|24/24|c.*121T>G|||||121|,C|3_prime_UTR_variant|MODIFIER|TBC1D5|TBC1D5|transcript|NM_014744.2|protein_coding|22/22|c.*121T>G|||||121|;p3_1000G_AA=C|||;p3_1000G_AC=4284;p3_1000G_AF=0.855431;p3_1000G_AFR_AF=0.9168;p3_1000G_AMR_AF=0.8372;p3_1000G_AN=5008;p3_1000G_DP=20624;p3_1000G_EAS_AF=0.9355;p3_1000G_EUR_AF=0.6869;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17202334;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:368,33,0
chr3	17167661	rs56166267	G	C	128.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=1.73;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs56166267;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|TBC1D5|TBC1D5|transcript|NM_001134381.1|protein_coding|22/23|c.1998+88C>G||||||,C|intron_variant|MODIFIER|TBC1D5|TBC1D5|transcript|NM_014744.2|protein_coding|20/21|c.1932+88C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1741;p3_1000G_AF=0.347644;p3_1000G_AFR_AF=0.3056;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=17191;p3_1000G_EAS_AF=0.5873;p3_1000G_EUR_AF=0.161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17209153;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3313;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,6:9:95:157,0,95
chr3	17167703	rs2305291	G	A	164.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.65;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=1.36;SOR=0.569;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2305291;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TBC1D5|TBC1D5|transcript|NM_001134381.1|protein_coding|22/23|c.1998+46C>T||||||,A|intron_variant|MODIFIER|TBC1D5|TBC1D5|transcript|NM_014744.2|protein_coding|20/21|c.1932+46C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=1383;p3_1000G_AF=0.276158;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.353;p3_1000G_AN=5008;p3_1000G_DP=17733;p3_1000G_EAS_AF=0.5407;p3_1000G_EUR_AF=0.1461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=17209195;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=432,3974;ESP6500_AA_AGE=205.8+/-227.6;ESP6500_AA_GTC=20,392,1791;ESP6500_CDS_SIZES=NM_014744.2:2388,NM_001134381.1:2454,NM_001134380.1:2388;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=42;ESP6500_EA_AC=1392,7208;ESP6500_EA_AGE=269.1+/-288.2;ESP6500_EA_GTC=118,1156,3026;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014744.2:intron,NM_001134381.1:intron,NM_001134380.1:intron;ESP6500_GL=TBC1D5;ESP6500_GRCh38_POSITION=3:17167703;ESP6500_GTC=138,1548,4817;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014744.2:c.1932+46C>T,NM_001134381.1:c.1998+46C>T,NM_001134380.1:c.1932+46C>T;ESP6500_MAF=16.186,9.8048,14.0243;ESP6500_TAC=1824,11182	GT:AD:DP:GQ:PL	0/1:7,9:16:99:193,0,219
chr3	18013739	rs61978649	A	C	1513.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.54;SOR=1.067;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs61978649;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|LOC339862|LOC339862|transcript|NM_001257177.1|protein_coding|2/5|c.94A>C|p.Ser32Arg|208/2331|94/342|32/113||;p3_1000G_AA=A|||;p3_1000G_AC=2291;p3_1000G_AF=0.457468;p3_1000G_AFR_AF=0.1952;p3_1000G_AMR_AF=0.5548;p3_1000G_AN=5008;p3_1000G_DP=12435;p3_1000G_EAS_AF=0.8393;p3_1000G_EUR_AF=0.337;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18055231;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4734;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1542,144,0
chr3	18016567	rs9310539	A	G	198.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.4;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9310539;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|LOC339862|LOC339862|transcript|NM_001257177.1|protein_coding|2/4|c.130-51A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2954;p3_1000G_AF=0.589856;p3_1000G_AFR_AF=0.3949;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=20210;p3_1000G_EAS_AF=0.9395;p3_1000G_EUR_AF=0.496;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18058059;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5368;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0
chr3	18016601	rs62240226	C	G	280.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.2;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62240226;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|LOC339862|LOC339862|transcript|NM_001257177.1|protein_coding|2/4|c.130-17C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1468;p3_1000G_AF=0.293131;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.4366;p3_1000G_AN=5008;p3_1000G_DP=19689;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18058093;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:309,27,0
chr3	18266944	rs7432753	A	G	1133.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.35;SOR=1.819;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7432753;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|LOC339862|LOC339862|transcript|NM_001257177.1|protein_coding|4/4|c.317-74A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1667;p3_1000G_AF=0.332867;p3_1000G_AFR_AF=0.1967;p3_1000G_AMR_AF=0.4063;p3_1000G_AN=5008;p3_1000G_DP=20257;p3_1000G_EAS_AF=0.4633;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18308436;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4141;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1162,102,0
chr3	18349811	rs12492270	A	T	127.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.58;SOR=1.981;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12492270;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001195470.2|protein_coding|11/11|c.1876-129T>A||||||,T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_002971.5|protein_coding|10/10|c.1780-129T>A||||||,T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001131010.3|protein_coding|10/10|c.1780-129T>A||||||,T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322875.1|protein_coding|10/10|c.1780-129T>A||||||,T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322871.1|protein_coding|11/11|c.1876-129T>A||||||,T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322873.1|protein_coding|10/10|c.1780-129T>A||||||,T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322876.1|protein_coding|9/9|c.1564-129T>A||||||,T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322872.1|protein_coding|11/11|c.1780-129T>A||||||,T|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322874.1|protein_coding|10/10|c.1780-129T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=2570;p3_1000G_AF=0.513179;p3_1000G_AFR_AF=0.2126;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=17130;p3_1000G_EAS_AF=0.75;p3_1000G_EUR_AF=0.6252;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18391303;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4417;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:156,15,0
chr3	18351200	rs7627392	A	C	286.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.68;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7627392;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001195470.2|protein_coding|11/11|c.1875+113T>G||||||,C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_002971.5|protein_coding|10/10|c.1779+792T>G||||||,C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001131010.3|protein_coding|10/10|c.1779+792T>G||||||,C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322875.1|protein_coding|10/10|c.1779+792T>G||||||,C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322871.1|protein_coding|11/11|c.1875+113T>G||||||,C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322873.1|protein_coding|10/10|c.1779+792T>G||||||,C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322876.1|protein_coding|9/9|c.1563+792T>G||||||,C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322872.1|protein_coding|11/11|c.1779+792T>G||||||,C|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322874.1|protein_coding|10/10|c.1779+792T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3473;p3_1000G_AF=0.69349;p3_1000G_AFR_AF=0.6475;p3_1000G_AMR_AF=0.7608;p3_1000G_AN=5008;p3_1000G_DP=18989;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.6302;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18392692;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5378;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:315,30,0
chr3	18378367	rs10460976	G	A	1183.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=1.802;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10460976;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001195470.2|protein_coding|8/11|c.1420-42C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_002971.5|protein_coding|8/10|c.1420-42C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001131010.3|protein_coding|8/10|c.1420-42C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322875.1|protein_coding|8/10|c.1420-42C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322871.1|protein_coding|8/11|c.1420-42C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322873.1|protein_coding|8/10|c.1420-42C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322876.1|protein_coding|7/9|c.1204-42C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322872.1|protein_coding|9/11|c.1420-42C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322874.1|protein_coding|8/10|c.1420-42C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3447;p3_1000G_AF=0.688299;p3_1000G_AFR_AF=0.5802;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=20760;p3_1000G_EAS_AF=0.9216;p3_1000G_EUR_AF=0.5706;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18419859;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2579,1827;ESP6500_AA_AGE=521.5+/-370.6;ESP6500_AA_GTC=744,1091,368;ESP6500_CDS_SIZES=NM_002971.4:2292,NM_001195470.1:2388,NM_001131010.2:2292;ESP6500_CG=3.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=104;ESP6500_EA_AC=4979,3621;ESP6500_EA_AGE=517.7+/-379.1;ESP6500_EA_GTC=1456,2067,777;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002971.4:intron,NM_001195470.1:intron,NM_001131010.2:intron;ESP6500_GL=SATB1;ESP6500_GRCh38_POSITION=3:18378367;ESP6500_GTC=2200,3158,1145;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002971.4:c.1420-42C>T,NM_001195470.1:c.1420-42C>T,NM_001131010.2:c.1420-42C>T;ESP6500_MAF=42.1047,41.4662,41.8884;ESP6500_TAC=7558,5448	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1212,110,0
chr3	18386432	rs2229261	G	T	643.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.99;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2229261;dbSNPBuildID=137;ANN=T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_001195470.2|protein_coding|8/12|c.1386C>A|p.Pro462Pro|3121/7905|1386/2388|462/795||,T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_002971.5|protein_coding|8/11|c.1386C>A|p.Pro462Pro|3121/7809|1386/2292|462/763||,T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_001131010.3|protein_coding|8/11|c.1386C>A|p.Pro462Pro|1619/6307|1386/2292|462/763||,T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_001322875.1|protein_coding|8/11|c.1386C>A|p.Pro462Pro|1479/6167|1386/2292|462/763||,T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_001322871.1|protein_coding|8/12|c.1386C>A|p.Pro462Pro|1667/6451|1386/2388|462/795||,T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_001322873.1|protein_coding|8/11|c.1386C>A|p.Pro462Pro|1667/6355|1386/2292|462/763||,T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_001322876.1|protein_coding|7/10|c.1170C>A|p.Pro390Pro|1432/6120|1170/2076|390/691||,T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_001322872.1|protein_coding|9/12|c.1386C>A|p.Pro462Pro|1667/6355|1386/2292|462/763||,T|synonymous_variant|LOW|SATB1|SATB1|transcript|NM_001322874.1|protein_coding|8/11|c.1386C>A|p.Pro462Pro|1481/6169|1386/2292|462/763||;p3_1000G_AA=G|||;p3_1000G_AC=3451;p3_1000G_AF=0.689097;p3_1000G_AFR_AF=0.5809;p3_1000G_AMR_AF=0.7291;p3_1000G_AN=5008;p3_1000G_DP=16692;p3_1000G_EAS_AF=0.9226;p3_1000G_EUR_AF=0.5716;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18427924;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2573,1833;ESP6500_AA_AGE=636.9+/-396.7;ESP6500_AA_GTC=739,1095,369;ESP6500_CDS_SIZES=NM_002971.4:2292,NM_001195470.1:2388,NM_001131010.2:2292;ESP6500_CG=-5.8;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=167;ESP6500_EA_AC=4985,3615;ESP6500_EA_AGE=625.1+/-397.7;ESP6500_EA_GTC=1459,2067,774;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002971.4:coding-synonymous,NM_001195470.1:coding-synonymous,NM_001131010.2:coding-synonymous;ESP6500_GL=SATB1;ESP6500_GRCh38_POSITION=3:18386432;ESP6500_GTC=2198,3162,1143;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_002971.4:c.1386C>A,NM_001195470.1:c.1386C>A,NM_001131010.2:c.1386C>A;ESP6500_HGVS_PROTEIN_VAR=NM_002971.4:p.(P462),NM_001195470.1:p.(P462),NM_001131010.2:p.(P462);ESP6500_MAF=42.0349,41.6024,41.8884;ESP6500_TAC=7558,5448	GT:AD:DP:GQ:PL	1/1:0,23:23:69:672,69,0
chr3	18410982	rs66944057	G	A	21.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.88;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs66944057;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001195470.2|protein_coding|5/11|c.639+4129C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_002971.5|protein_coding|5/10|c.639+4129C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001131010.3|protein_coding|5/10|c.639+4129C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322875.1|protein_coding|5/10|c.639+4129C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322871.1|protein_coding|5/11|c.639+4129C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322873.1|protein_coding|5/10|c.639+4129C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322876.1|protein_coding|4/9|c.423+4129C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322872.1|protein_coding|6/11|c.639+4129C>T||||||,A|intron_variant|MODIFIER|SATB1|SATB1|transcript|NM_001322874.1|protein_coding|5/10|c.639+4129C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1510;p3_1000G_AF=0.301518;p3_1000G_AFR_AF=0.3079;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=15934;p3_1000G_EAS_AF=0.5198;p3_1000G_EUR_AF=0.2078;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=18452474;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0
chr3	19395095	rs10470642	T	C	863.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=2.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-0.909;SOR=1.315;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10470642;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|KCNH8|KCNH8|transcript|NM_144633.2|protein_coding|6/15|c.970-9T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3742;p3_1000G_AF=0.747204;p3_1000G_AFR_AF=0.9758;p3_1000G_AMR_AF=0.7277;p3_1000G_AN=5008;p3_1000G_DP=16304;p3_1000G_EAS_AF=0.6319;p3_1000G_EUR_AF=0.7038;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19436587;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6155;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4107,299;ESP6500_AA_AGE=162.2+/-194.2;ESP6500_AA_GTC=1910,287,6;ESP6500_CDS_SIZES=NM_144633.2:3324;ESP6500_CG=2.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=111;ESP6500_EA_AC=6022,2578;ESP6500_EA_AGE=413.8+/-351.3;ESP6500_EA_GTC=2128,1766,406;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144633.2:intron;ESP6500_GL=KCNH8;ESP6500_GRCh38_POSITION=3:19395095;ESP6500_GTC=4038,2053,412;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144633.2:c.970-9T>C;ESP6500_MAF=29.9767,6.7862,22.1206;ESP6500_TAC=10129,2877	GT:AD:DP:GQ:PL	0/1:24,31:55:99:892,0,601
chr3	19510260	rs75412914	A	G	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.29;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.618;SOR=0.269;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75412914;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|KCNH8|KCNH8|transcript|NM_144633.2|protein_coding|11/15|c.2041-103A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=555;p3_1000G_AF=0.110823;p3_1000G_AFR_AF=0.1899;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=19880;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.0557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19551752;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1217;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:261,0,224
chr3	19510516	rs77498995	G	A	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.206;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.22;ReadPosRankSum=-1.451;SOR=0.404;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77498995;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|KCNH8|KCNH8|transcript|NM_144633.2|protein_coding|12/15|c.2079+115G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=341;p3_1000G_AF=0.0680911;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=18679;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.0497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19552008;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,10:31:99:252,0,697
chr3	19515435	rs4130926	T	A	107.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.732;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.079;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4130926;dbSNPBuildID=108;ANN=A|splice_region_variant&intron_variant|LOW|KCNH8|KCNH8|transcript|NM_144633.2|protein_coding|14/15|c.2542+7T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=343;p3_1000G_AF=0.0684904;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=16127;p3_1000G_EAS_AF=0.0714;p3_1000G_EUR_AF=0.0487;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19556927;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.089;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=307,4097;ESP6500_AA_AGE=163.3+/-195.1;ESP6500_AA_GTC=9,289,1904;ESP6500_CDS_SIZES=NM_144633.2:3324;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=43;ESP6500_EA_AC=413,8185;ESP6500_EA_AGE=127.0+/-185.4;ESP6500_EA_GTC=11,391,3897;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144633.2:intron;ESP6500_GL=KCNH8;ESP6500_GRCh38_POSITION=3:19515435;ESP6500_GTC=20,680,5801;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_144633.2:c.2542+7T>A;ESP6500_MAF=4.8034,6.9709,5.5376;ESP6500_TAC=720,12282	GT:AD:DP:GQ:PL	0/1:6,6:12:99:136,0,170
chr3	19515498	rs397988873;rs56353870	AT	A	78.87	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=15.77;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs56353870;dbSNPBuildID=134,138;ANN=A|intron_variant|MODIFIER|KCNH8|KCNH8|transcript|NM_144633.2|protein_coding|14/15|c.2542+83delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.9009;p3_1000G_AMR_AF=0.9207;p3_1000G_AN=5008;p3_1000G_DP=16570;p3_1000G_EAS_AF=0.878;p3_1000G_EUR_AF=0.8728;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19556990;p3_1000G_GRCH37_REF=AT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,5:5:15:116,15,0
chr3	19517950	rs150776013	TAAG	T	307.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.244;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=0.38;SOR=0.877;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs150776013;dbSNPBuildID=134;ANN=T|intron_variant|MODIFIER|KCNH8|KCNH8|transcript|NM_144633.2|protein_coding|14/15|c.2543-47_2543-45delAAG||||||;p3_1000G_AC=333;p3_1000G_AF=0.0664936;p3_1000G_AFR_AF=0.0651;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=23057;p3_1000G_EAS_AF=0.0704;p3_1000G_EUR_AF=0.0487;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19559442;p3_1000G_GRCH37_REF=TAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0879;p3_1000G_VT=INDEL;ESP6500_AA_AC=271,9,3986;ESP6500_AA_GTC=7,0,257,4,1,1864;ESP6500_CDS_SIZES=NM_144633.2:3324,NM_144633.2:3324;ESP6500_CG=-3.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=80;ESP6500_EA_AC=398,12,7842;ESP6500_EA_GTC=11,0,376,6,0,3733;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144633.2:intron,NM_144633.2:intron;ESP6500_GL=KCNH8;ESP6500_GRCh38_POSITION=3:19517950;ESP6500_GTC=18,0,633,10,1,5597;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_144633.2:c.2543-47del4,NM_144633.2:c.2543-47_2543-45del3;ESP6500_MAF=4.9685,6.5635,5.5121;ESP6500_TAC=669,21,11828	GT:AD:DP:GQ:PL	0/1:11,9:20:99:345,0,602
chr3	19533453	rs33915638	A	G	899.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.119;ClippingRankSum=0;DP=79;ExcessHet=3.0103;FS=1.911;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.046;SOR=0.499;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs33915638;dbSNPBuildID=126;ANN=G|missense_variant|MODERATE|KCNH8|KCNH8|transcript|NM_144633.2|protein_coding|16/16|c.2678A>G|p.Gln893Arg|2873/5063|2678/3324|893/1107||;p3_1000G_AA=A|||;p3_1000G_AC=434;p3_1000G_AF=0.0866613;p3_1000G_AFR_AF=0.0703;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=18046;p3_1000G_EAS_AF=0.0764;p3_1000G_EUR_AF=0.0865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19574945;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1227;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=365,4041;ESP6500_AA_AGE=187.4+/-214.1;ESP6500_AA_GTC=13,339,1851;ESP6500_CDS_SIZES=NM_144633.2:3324;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=106;ESP6500_EA_AC=839,7761;ESP6500_EA_AGE=193.2+/-239.0;ESP6500_EA_GTC=38,763,3499;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144633.2:missense;ESP6500_GL=KCNH8;ESP6500_GRCh38_POSITION=3:19533453;ESP6500_GS=43;ESP6500_GTC=51,1102,5350;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144633.2:c.2678A>G;ESP6500_HGVS_PROTEIN_VAR=NM_144633.2:p.(Q893R);ESP6500_MAF=9.7558,8.2842,9.2573;ESP6500_PH=benign:0.001;ESP6500_TAC=1204,11802	GT:AD:DP:GQ:PL	0/1:41,38:79:99:928,0,1061
chr3	19899385	rs2931385	A	G	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.21;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.31;SOR=0.293;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2931385;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|EFHB|EFHB|transcript|NM_144715.3|protein_coding|7/12|c.1502+47T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1885;p3_1000G_AF=0.376398;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=16465;p3_1000G_EAS_AF=0.1716;p3_1000G_EUR_AF=0.3757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19940877;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2220,2180;ESP6500_AA_GTC=585,1050,565;ESP6500_CDS_SIZES=NM_144715.3:2502;ESP6500_CG=3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=39;ESP6500_EA_AC=3494,5088;ESP6500_EA_GTC=701,2092,1498;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144715.3:intron;ESP6500_GL=EFHB;ESP6500_GRCh38_POSITION=3:19899385;ESP6500_GTC=1286,3142,2063;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144715.3:c.1502+47T>C;ESP6500_MAF=40.7131,49.5455,44.0148;ESP6500_TAC=5714,7268	GT:AD:DP:GQ:PL	0/1:5,7:12:99:219,0,171
chr3	19899582	rs2931386	A	G	258.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.95;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=4.964;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.998;SOR=2.187;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2931386;dbSNPBuildID=101;ANN=G|intron_variant|MODIFIER|EFHB|EFHB|transcript|NM_144715.3|protein_coding|6/12|c.1419-67T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1886;p3_1000G_AF=0.376597;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.3501;p3_1000G_AN=5008;p3_1000G_DP=15133;p3_1000G_EAS_AF=0.1726;p3_1000G_EUR_AF=0.3757;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19941074;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,9:20:99:287,0,248
chr3	19899596	rs1206644270	C	T	226.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.477;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=6.245;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.239;SOR=0.051;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=T|intron_variant|MODIFIER|EFHB|EFHB|transcript|NM_144715.3|protein_coding|6/12|c.1419-81G>A||||||	GT:AD:DP:GQ:PL	0/1:6,11:17:99:255,0,210
chr3	19905500	rs2931394	G	A	35.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.016;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=-0.812;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2931394;dbSNPBuildID=101;ANN=A|intron_variant|MODIFIER|EFHB|EFHB|transcript|NM_144715.3|protein_coding|6/12|c.1418+120C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3325;p3_1000G_AF=0.663938;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=18508;p3_1000G_EAS_AF=0.3026;p3_1000G_EUR_AF=0.7813;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19946992;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6585;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,3:9:64:64,0,185
chr3	19905804	rs2929377	T	C	183.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.17;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=7.521;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.394;SOR=2.546;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2929377;dbSNPBuildID=101;ANN=C|intron_variant|MODIFIER|EFHB|EFHB|transcript|NM_144715.3|protein_coding|5/12|c.1289-55A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1707;p3_1000G_AF=0.340855;p3_1000G_AFR_AF=0.4584;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=21391;p3_1000G_EAS_AF=0.1319;p3_1000G_EUR_AF=0.3986;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19947296;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,8:19:99:212,0,244
chr3	19919838	rs2931403	C	T	926.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.56;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=1.12;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2931403;dbSNPBuildID=101;ANN=T|missense_variant|MODERATE|EFHB|EFHB|transcript|NM_144715.3|protein_coding|3/13|c.991G>A|p.Val331Ile|1187/2855|991/2502|331/833||;p3_1000G_AA=T|||;p3_1000G_AC=3368;p3_1000G_AF=0.672524;p3_1000G_AFR_AF=0.8805;p3_1000G_AMR_AF=0.6153;p3_1000G_AN=5008;p3_1000G_DP=16653;p3_1000G_EAS_AF=0.3353;p3_1000G_EUR_AF=0.7753;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19961330;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6738;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3673,731;ESP6500_AA_GTC=1677,319,206;ESP6500_CDS_SIZES=NM_144715.3:2502;ESP6500_CG=-6.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=89;ESP6500_EA_AC=6523,2077;ESP6500_EA_GTC=2662,1199,439;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144715.3:missense;ESP6500_GL=EFHB;ESP6500_GRCh38_POSITION=3:19919838;ESP6500_GS=29;ESP6500_GTC=4339,1518,645;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144715.3:c.991G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144715.3:p.(V331I);ESP6500_MAF=24.1512,16.5985,21.5934;ESP6500_PH=benign:0.001;ESP6500_TAC=10196,2808	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,25:53:99:0|1:19919838_C_T:955,0,1523
chr3	19919839	rs2929362	T	C	926.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.547;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=2.345;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=1.16;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2929362;dbSNPBuildID=126;ANN=C|synonymous_variant|LOW|EFHB|EFHB|transcript|NM_144715.3|protein_coding|3/13|c.990A>G|p.Ser330Ser|1186/2855|990/2502|330/833||;p3_1000G_AA=T|||;p3_1000G_AC=983;p3_1000G_AF=0.196286;p3_1000G_AFR_AF=0.3177;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=16733;p3_1000G_EAS_AF=0.1081;p3_1000G_EUR_AF=0.1481;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=19961331;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2301;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=24,4380;ESP6500_AA_GTC=4,16,2182;ESP6500_CDS_SIZES=NM_144715.3:2502;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=90;ESP6500_EA_AC=14,8586;ESP6500_EA_GTC=2,10,4288;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144715.3:coding-synonymous;ESP6500_GL=EFHB;ESP6500_GRCh38_POSITION=3:19919839;ESP6500_GTC=6,26,6470;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144715.3:c.990A>G;ESP6500_HGVS_PROTEIN_VAR=NM_144715.3:p.(S330);ESP6500_MAF=0.1628,0.545,0.2922;ESP6500_TAC=38,12966	GT:AD:DP:GQ:PGT:PID:PL	0/1:28,25:53:99:0|1:19919838_C_T:955,0,1523
chr3	19978530	rs1424348886	TGA	T	20.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.967;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.46;ReadPosRankSum=0;SOR=0.307;DEL;HET;VARTYPE=DEL;dbSNPBuildID=151;ANN=T|downstream_gene_variant|MODIFIER|PP2D1|PP2D1|transcript|NR_027694.1|pseudogene||n.*1429_*1430delTC|||||1430|,T|intron_variant|MODIFIER|RAB5A|RAB5A|transcript|NM_004162.4|protein_coding|5/5|c.532+142_532+143delGA||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|RAB5A|RAB5A|transcript|NM_001292048.1|protein_coding|5/5|c.490+142_490+143delGA||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,2:6:58:58,0,133
chr3	20072338	rs3021408	G	A	578.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.689;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=-1.196;SOR=0.474;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3021408;dbSNPBuildID=101;ANN=A|synonymous_variant|LOW|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|2/18|c.309G>A|p.Glu103Glu|755/4824|309/2499|103/832||;p3_1000G_AA=G|||;p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=17865;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20113830;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2166,2240;ESP6500_AA_AGE=583.1+/-385.7;ESP6500_AA_GTC=521,1124,558;ESP6500_CDS_SIZES=NM_003884.4:2499;ESP6500_CG=4.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=132;ESP6500_EA_AC=3184,5416;ESP6500_EA_AGE=483.4+/-371.1;ESP6500_EA_GTC=617,1950,1733;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003884.4:coding-synonymous;ESP6500_GL=KAT2B;ESP6500_GRCh38_POSITION=3:20072338;ESP6500_GTC=1138,3074,2291;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003884.4:c.309G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003884.4:p.(E103);ESP6500_MAF=37.0233,49.1602,41.1349;ESP6500_TAC=5350,7656	GT:AD:DP:GQ:PL	0/1:9,24:33:99:607,0,210
chr3	20072497	rs3749180	C	A	194.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=2.158;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.074;SOR=1.863;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749180;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|2/17|c.430+38C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=18946;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20113989;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2166,2240;ESP6500_AA_AGE=580.0+/-385.0;ESP6500_AA_GTC=521,1124,558;ESP6500_CDS_SIZES=NM_003884.4:2499;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=65;ESP6500_EA_AC=3181,5419;ESP6500_EA_AGE=478.9+/-370.0;ESP6500_EA_GTC=615,1951,1734;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003884.4:intron;ESP6500_GL=KAT2B;ESP6500_GRCh38_POSITION=3:20072497;ESP6500_GTC=1136,3075,2292;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_003884.4:c.430+38C>A;ESP6500_MAF=36.9884,49.1602,41.1118;ESP6500_TAC=5347,7659	GT:AD:DP:GQ:PL	0/1:8,8:16:99:223,0,187
chr3	20072552	rs3828349	T	C	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.26;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.522;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=1.09;SOR=2.712;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828349;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|2/17|c.430+93T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2412;p3_1000G_AF=0.481629;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.4597;p3_1000G_AN=5008;p3_1000G_DP=19238;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.4404;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20114044;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5532;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:5,4:9:99:0|1:20072552_T_C:153,0,199
chr3	20072556	rs3828348	G	A	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.545;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=0.674;SOR=1.981;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3828348;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|2/17|c.430+97G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2336;p3_1000G_AF=0.466454;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.4481;p3_1000G_AN=5008;p3_1000G_DP=19158;p3_1000G_EAS_AF=0.4137;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20114048;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,4:8:99:0|1:20072552_T_C:156,0,177
chr3	20095153	rs2293141	A	T	198.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.14;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2293141;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|2/17|c.431-110A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2473;p3_1000G_AF=0.49381;p3_1000G_AFR_AF=0.4629;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=18745;p3_1000G_EAS_AF=0.5913;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20136645;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6207;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:227,18,0
chr3	20095191	rs2293142	T	G	27.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.569;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=-0.903;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293142;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|2/17|c.431-72T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1596;p3_1000G_AF=0.31869;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.2205;p3_1000G_AN=5008;p3_1000G_DP=19189;p3_1000G_EAS_AF=0.4008;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20136683;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:56:56,0,217
chr3	20095467	rs12636856	A	G	221.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.11;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12636856;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|3/17|c.576+59A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=871;p3_1000G_AF=0.173922;p3_1000G_AFR_AF=0.1657;p3_1000G_AMR_AF=0.062;p3_1000G_AN=5008;p3_1000G_DP=20579;p3_1000G_EAS_AF=0.3839;p3_1000G_EUR_AF=0.0775;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20136959;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:250,18,0
chr3	20099809	rs11128939	T	G	92.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.01;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11128939;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|3/17|c.577-53T>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=2545;p3_1000G_AF=0.508187;p3_1000G_AFR_AF=0.5061;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=16823;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.3638;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20141301;p3_1000G_GRCH37_REF=T;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6196;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=770,612;ESP6500_AA_GTC=251,268,172;ESP6500_CDS_SIZES=NM_003884.4:2499;ESP6500_CG=-3.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=13;ESP6500_EA_AC=1313,1861;ESP6500_EA_GTC=360,593,634;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003884.4:intron;ESP6500_GL=KAT2B;ESP6500_GRCh38_POSITION=3:20099809;ESP6500_GTC=611,861,806;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_003884.4:c.577-53T>G;ESP6500_MAF=41.3674,44.2836,45.7199;ESP6500_TAC=2083,2473	GT:AD:DP:GQ:PL	1/1:0,4:4:12:120,12,0
chr3	20100030	rs13323791	A	G	80.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.126;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13323791;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|4/17|c.669+76A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1670;p3_1000G_AF=0.333466;p3_1000G_AFR_AF=0.4145;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=17536;p3_1000G_EAS_AF=0.4147;p3_1000G_EUR_AF=0.1521;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20141522;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:59:109,0,59
chr3	20101528	rs4858155	G	C	557.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.2;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4858155;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|5/17|c.851+60G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3420;p3_1000G_AF=0.682907;p3_1000G_AFR_AF=0.8056;p3_1000G_AMR_AF=0.5793;p3_1000G_AN=5008;p3_1000G_DP=18522;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.6064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20143020;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:586,42,0
chr3	20114810	rs2365794	T	C	715.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.49;SOR=1.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2365794;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|6/17|c.1044-72T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3427;p3_1000G_AF=0.684305;p3_1000G_AFR_AF=0.8079;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=20092;p3_1000G_EAS_AF=0.6101;p3_1000G_EUR_AF=0.6074;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20156302;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:744,60,0
chr3	20119604	rs17006625	A	G	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.2;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.321;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17006625;dbSNPBuildID=123;ANN=G|missense_variant|MODERATE|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|8/18|c.1157A>G|p.Asn386Ser|1603/4824|1157/2499|386/832||;p3_1000G_AA=A|||;p3_1000G_AC=376;p3_1000G_AF=0.0750799;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=17398;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0.0139;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20161096;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=286,4120;ESP6500_AA_AGE=156.6+/-189.7;ESP6500_AA_GTC=5,276,1922;ESP6500_CDS_SIZES=NM_003884.4:2499;ESP6500_CG=-11.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=112;ESP6500_EA_AC=25,8575;ESP6500_EA_AGE=17.9+/-57.8;ESP6500_EA_GTC=0,25,4275;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003884.4:missense;ESP6500_GL=KAT2B;ESP6500_GRCh38_POSITION=3:20119604;ESP6500_GS=46;ESP6500_GTC=5,301,6197;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003884.4:c.1157A>G;ESP6500_HGVS_PROTEIN_VAR=NM_003884.4:p.(N386S);ESP6500_MAF=0.2907,6.4911,2.3912;ESP6500_PH=benign:0.002;ESP6500_TAC=311,12695	GT:AD:DP:GQ:PL	0/1:13,17:30:99:412,0,313
chr3	20125851	.	C	T	67.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.217;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.792;SOR=1.609;SNP;HET;VARTYPE=SNP;ANN=T|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|9/17|c.1414-54C>T||||||	GT:AD:DP:GQ:PL	0/1:4,3:7:96:96,0,109
chr3	20140123	rs3762632	G	T	51.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.09;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.45;ReadPosRankSum=1.63;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762632;dbSNPBuildID=107;ANN=T|downstream_gene_variant|MODIFIER|MIR3135A|MIR3135A|transcript|NR_036086.1|pseudogene||n.*2482G>T|||||2482|,T|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|12/17|c.1861-98G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1493;p3_1000G_AF=0.298123;p3_1000G_AFR_AF=0.4274;p3_1000G_AMR_AF=0.1484;p3_1000G_AN=5008;p3_1000G_DP=16705;p3_1000G_EAS_AF=0.4028;p3_1000G_EUR_AF=0.0557;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20181615;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,4:15:80:80,0,384
chr3	20140184	rs3762633	T	C	1030.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.21;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3762633;dbSNPBuildID=107;ANN=C|downstream_gene_variant|MODIFIER|MIR3135A|MIR3135A|transcript|NR_036086.1|pseudogene||n.*2543T>C|||||2543|,C|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|12/17|c.1861-37T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2121;p3_1000G_AF=0.423522;p3_1000G_AFR_AF=0.5961;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=18265;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.1223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20181676;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2270,2136;ESP6500_AA_AGE=549.0+/-377.7;ESP6500_AA_GTC=600,1070,533;ESP6500_CDS_SIZES=NM_003884.4:2499;ESP6500_CG=2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=41;ESP6500_EA_AC=888,7710;ESP6500_EA_AGE=771.4+/-407.7;ESP6500_EA_GTC=43,802,3454;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003884.4:intron;ESP6500_GL=KAT2B;ESP6500_GRCh38_POSITION=3:20140184;ESP6500_GTC=643,1872,3987;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_003884.4:c.1861-37T>C;ESP6500_MAF=10.328,48.4793,24.2848;ESP6500_TAC=3158,9846	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1059,96,0
chr3	20146457	rs762728649	G	A	123.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.959;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=1.691;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.42;ReadPosRankSum=-0.221;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=A|intron_variant|MODIFIER|KAT2B|KAT2B|transcript|NM_003884.4|protein_coding|14/17|c.2119+27G>A||||||	GT:AD:DP:GQ:PL	0/1:19,9:28:99:152,0,535
chr3	20170697	rs1052930	A	G	412.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.8;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052930;dbSNPBuildID=86;ANN=G|3_prime_UTR_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012409.3|protein_coding|8/8|c.*7T>C|||||7|,G|3_prime_UTR_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012411.3|protein_coding|8/8|c.*7T>C|||||7|,G|3_prime_UTR_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012413.3|protein_coding|7/7|c.*7T>C|||||7|,G|3_prime_UTR_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199251.2|protein_coding|8/8|c.*7T>C|||||7|,G|3_prime_UTR_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199253.2|protein_coding|8/8|c.*7T>C|||||7|,G|3_prime_UTR_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199255.2|protein_coding|7/7|c.*7T>C|||||7|,G|upstream_gene_variant|MODIFIER|SGO1-AS1|SGO1-AS1|transcript|NR_132785.1|pseudogene||n.-3589A>G|||||3589|,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012410.4|protein_coding|8/8|c.1564+27T>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012412.4|protein_coding|8/8|c.808+27T>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199252.2|protein_coding|8/8|c.1564+27T>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199254.2|protein_coding|8/8|c.808+27T>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199256.2|protein_coding|7/7|c.757+27T>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199257.2|protein_coding|6/6|c.526+4308T>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_138484.4|protein_coding|7/7|c.757+27T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SGO1|SGO1|transcript|NR_131179.1|pseudogene|7/7|n.820T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SGO1|SGO1|transcript|NR_131180.1|pseudogene|6/6|n.769T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=4114;p3_1000G_AF=0.821486;p3_1000G_AFR_AF=0.9508;p3_1000G_AMR_AF=0.7911;p3_1000G_AN=5008;p3_1000G_DP=14225;p3_1000G_EAS_AF=0.9464;p3_1000G_EUR_AF=0.6213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20212189;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7454;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3947,453;ESP6500_AA_AGE=751.4+/-412.2;ESP6500_AA_GTC=1763,421,16;ESP6500_CDS_SIZES=NM_138484.3:879,NM_001199257.1:648,NM_001199256.1:879,NM_001199255.1:777,NM_001199254.1:930,NM_001199253.1:828,NM_001199252.1:1686,NM_001199251.1:1584,NM_001012413.2:777,NM_001012412.3:930,NM_001012411.2:828,NM_001012410.3:1686,NM_001012409.2:1584;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=70;ESP6500_EA_AC=5151,3443;ESP6500_EA_AGE=610.4+/-395.7;ESP6500_EA_GTC=1551,2049,697;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138484.3:intron,NM_001199257.1:intron,NM_001199256.1:intron,NM_001199255.1:utr-3,NM_001199254.1:intron,NM_001199253.1:utr-3,NM_001199252.1:intron,NM_001199251.1:utr-3,NM_001012413.2:utr-3,NM_001012412.3:intron,NM_001012411.2:utr-3,NM_001012410.3:intron,NM_001012409.2:utr-3;ESP6500_GL=SGOL1;ESP6500_GRCh38_POSITION=3:20170697;ESP6500_GTC=3314,2470,713;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_138484.3:c.757+27T>C,NM_001199257.1:c.526+4308T>C,NM_001199256.1:c.757+27T>C,NM_001199255.1:c.*7T>C,NM_001199254.1:c.808+27T>C,NM_001199253.1:c.*7T>C,NM_001199252.1:c.1564+27T>C,NM_001199251.1:c.*7T>C,NM_001012413.2:c.*7T>C,NM_001012412.3:c.808+27T>C,NM_001012411.2:c.*7T>C,NM_001012410.3:c.1564+27T>C,NM_001012409.2:c.*7T>C;ESP6500_MAF=40.0628,10.2955,29.9831;ESP6500_TAC=9098,3896	GT:AD:DP:GQ:PL	1/1:0,16:16:48:441,48,0
chr3	20175027	rs61729306	T	A	526.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.19;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.227;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61729306;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001012410.4|protein_coding|6/9|c.504A>T|p.Thr168Thr|686/2380|504/1686|168/561||,A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001012412.4|protein_coding|6/9|c.504A>T|p.Thr168Thr|686/1624|504/930|168/309||,A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001199252.2|protein_coding|6/9|c.504A>T|p.Thr168Thr|797/2491|504/1686|168/561||,A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001199254.2|protein_coding|6/9|c.504A>T|p.Thr168Thr|797/1735|504/930|168/309||,A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001199257.2|protein_coding|6/7|c.504A>T|p.Thr168Thr|797/1453|504/648|168/215||,A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001012409.3|protein_coding|6/8|c.504A>T|p.Thr168Thr|686/2990|504/1584|168/527||,A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001012411.3|protein_coding|6/8|c.504A>T|p.Thr168Thr|686/2234|504/828|168/275||,A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001199251.2|protein_coding|6/8|c.504A>T|p.Thr168Thr|797/3101|504/1584|168/527||,A|synonymous_variant|LOW|SGO1|SGO1|transcript|NM_001199253.2|protein_coding|6/8|c.504A>T|p.Thr168Thr|797/2345|504/828|168/275||,A|intron_variant|MODIFIER|SGO1-AS1|SGO1-AS1|transcript|NR_132785.1|pseudogene|2/3|n.324+209T>A||||||,A|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199256.2|protein_coding|5/7|c.475+1574A>T||||||,A|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_138484.4|protein_coding|5/7|c.475+1574A>T||||||,A|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012413.3|protein_coding|5/6|c.475+1574A>T||||||,A|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199255.2|protein_coding|5/6|c.475+1574A>T||||||,A|intron_variant|MODIFIER|SGO1|SGO1|transcript|NR_131180.1|pseudogene|4/5|n.460+1574A>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|SGO1|SGO1|transcript|NR_131179.1|pseudogene|5/7|n.489A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1331;p3_1000G_AF=0.265775;p3_1000G_AFR_AF=0.1687;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=19471;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.165;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20216519;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3292;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=748,3658;ESP6500_AA_AGE=284.9+/-277.9;ESP6500_AA_GTC=64,620,1519;ESP6500_CDS_SIZES=NM_138484.3:879,NM_001199257.1:648,NM_001199256.1:879,NM_001199255.1:777,NM_001199254.1:930,NM_001199253.1:828,NM_001199252.1:1686,NM_001199251.1:1584,NM_001012413.2:777,NM_001012412.3:930,NM_001012411.2:828,NM_001012410.3:1686,NM_001012409.2:1584;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=47;ESP6500_EA_AC=1385,7213;ESP6500_EA_AGE=263.2+/-284.9;ESP6500_EA_GTC=125,1135,3039;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138484.3:intron,NM_001199257.1:coding-synonymous,NM_001199256.1:intron,NM_001199255.1:intron,NM_001199254.1:coding-synonymous,NM_001199253.1:coding-synonymous,NM_001199252.1:coding-synonymous,NM_001199251.1:coding-synonymous,NM_001012413.2:intron,NM_001012412.3:coding-synonymous,NM_001012411.2:coding-synonymous,NM_001012410.3:coding-synonymous,NM_001012409.2:coding-synonymous;ESP6500_GL=SGOL1;ESP6500_GRCh38_POSITION=3:20175027;ESP6500_GTC=189,1755,4558;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_138484.3:c.475+1574A>T,NM_001199257.1:c.504A>T,NM_001199256.1:c.475+1574A>T,NM_001199255.1:c.475+1574A>T,NM_001199254.1:c.504A>T,NM_001199253.1:c.504A>T,NM_001199252.1:c.504A>T,NM_001199251.1:c.504A>T,NM_001012413.2:c.475+1574A>T,NM_001012412.3:c.504A>T,NM_001012411.2:c.504A>T,NM_001012410.3:c.504A>T,NM_001012409.2:c.504A>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_001199257.1:p.(T168),.,.,NM_001199254.1:p.(T168),NM_001199253.1:p.(T168),NM_001199252.1:p.(T168),NM_001199251.1:p.(T168),.,NM_001012412.3:p.(T168),NM_001012411.2:p.(T168),NM_001012410.3:p.(T168),NM_001012409.2:p.(T168);ESP6500_MAF=16.1084,16.9768,16.4026;ESP6500_TAC=2133,10871	GT:AD:DP:GQ:PL	0/1:22,19:41:99:555,0,593
chr3	20178202	rs6550401	T	G	33.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.319;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6550401;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012410.4|protein_coding|4/8|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1-AS1|SGO1-AS1|transcript|NR_132785.1|pseudogene|3/3|n.358+952T>G||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012412.4|protein_coding|4/8|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199252.2|protein_coding|4/8|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199254.2|protein_coding|4/8|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199256.2|protein_coding|4/7|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199257.2|protein_coding|4/6|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_138484.4|protein_coding|4/7|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012409.3|protein_coding|4/7|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012411.3|protein_coding|4/7|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012413.3|protein_coding|4/6|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199251.2|protein_coding|4/7|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199253.2|protein_coding|4/7|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199255.2|protein_coding|4/6|c.416+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NR_131179.1|pseudogene|3/6|n.401+69A>C||||||,G|intron_variant|MODIFIER|SGO1|SGO1|transcript|NR_131180.1|pseudogene|3/5|n.401+69A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2296;p3_1000G_AF=0.458466;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=15064;p3_1000G_EAS_AF=0.747;p3_1000G_EUR_AF=0.2127;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20219694;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4918;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,2:8:62:62,0,175
chr3	20178227	rs143672836;rs373262613	CCTTT	C	247.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.77;ReadPosRankSum=-0.755;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs143672836,rs373262613;dbSNPBuildID=134,138;ANN=C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012410.4|protein_coding|4/8|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1-AS1|SGO1-AS1|transcript|NR_132785.1|pseudogene|3/3|n.358+981_358+984delTCTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012412.4|protein_coding|4/8|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199252.2|protein_coding|4/8|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199254.2|protein_coding|4/8|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199256.2|protein_coding|4/7|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199257.2|protein_coding|4/6|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_138484.4|protein_coding|4/7|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012409.3|protein_coding|4/7|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012411.3|protein_coding|4/7|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012413.3|protein_coding|4/6|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199251.2|protein_coding|4/7|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199253.2|protein_coding|4/7|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199255.2|protein_coding|4/6|c.416+40_416+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NR_131179.1|pseudogene|3/6|n.401+40_401+43delAAAG||||||,C|intron_variant|MODIFIER|SGO1|SGO1|transcript|NR_131180.1|pseudogene|3/5|n.401+40_401+43delAAAG||||||;p3_1000G_AC=411;p3_1000G_AF=0.0820687;p3_1000G_AFR_AF=0.1188;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=15587;p3_1000G_EAS_AF=0.1647;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20219719;p3_1000G_GRCH37_REF=CCTTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=INDEL;ESP6500_AA_AC=454,3812;ESP6500_AA_GTC=29,396,1708;ESP6500_CDS_SIZES=NM_138484.3:879,NM_001199257.1:648,NM_001199256.1:879,NM_001199255.1:777,NM_001199254.1:930,NM_001199253.1:828,NM_001199252.1:1686,NM_001199251.1:1584,NM_001012413.2:777,NM_001012412.3:930,NM_001012411.2:828,NM_001012410.3:1686,NM_001012409.2:1584;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=39;ESP6500_EA_AC=65,8167;ESP6500_EA_GTC=7,51,4058;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138484.3:intron,NM_001199257.1:intron,NM_001199256.1:intron,NM_001199255.1:intron,NM_001199254.1:intron,NM_001199253.1:intron,NM_001199252.1:intron,NM_001199251.1:intron,NM_001012413.2:intron,NM_001012412.3:intron,NM_001012411.2:intron,NM_001012410.3:intron,NM_001012409.2:intron;ESP6500_GL=SGOL1;ESP6500_GRCh38_POSITION=3:20178227;ESP6500_GTC=36,447,5766;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_138484.3:c.416+40_416+43del4,NM_001199257.1:c.416+40_416+43del4,NM_001199256.1:c.416+40_416+43del4,NM_001199255.1:c.416+40_416+43del4,NM_001199254.1:c.416+40_416+43del4,NM_001199253.1:c.416+40_416+43del4,NM_001199252.1:c.416+40_416+43del4,NM_001199251.1:c.416+40_416+43del4,NM_001012413.2:c.416+40_416+43del4,NM_001012412.3:c.416+40_416+43del4,NM_001012411.2:c.416+40_416+43del4,NM_001012410.3:c.416+40_416+43del4,NM_001012409.2:c.416+40_416+43del4;ESP6500_MAF=0.7896,10.6423,4.1527;ESP6500_TAC=519,11979	GT:AD:DP:GQ:PL	0/1:3,7:10:99:285,0,105
chr3	20178393	rs6550402	C	T	675.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.38;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6550402;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012410.4|protein_coding|3/8|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1-AS1|SGO1-AS1|transcript|NR_132785.1|pseudogene|3/3|n.358+1143C>T||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012412.4|protein_coding|3/8|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199252.2|protein_coding|3/8|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199254.2|protein_coding|3/8|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199256.2|protein_coding|3/7|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199257.2|protein_coding|3/6|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_138484.4|protein_coding|3/7|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012409.3|protein_coding|3/7|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012411.3|protein_coding|3/7|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001012413.3|protein_coding|3/6|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199251.2|protein_coding|3/7|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199253.2|protein_coding|3/7|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NM_001199255.2|protein_coding|3/6|c.340-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NR_131179.1|pseudogene|2/6|n.325-46G>A||||||,T|intron_variant|MODIFIER|SGO1|SGO1|transcript|NR_131180.1|pseudogene|2/5|n.325-46G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3506;p3_1000G_AF=0.70008;p3_1000G_AFR_AF=0.6785;p3_1000G_AMR_AF=0.7046;p3_1000G_AN=5008;p3_1000G_DP=17208;p3_1000G_EAS_AF=0.9444;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=20219885;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6943;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2826,1580;ESP6500_AA_AGE=484.6+/-360.1;ESP6500_AA_GTC=909,1008,286;ESP6500_CDS_SIZES=NM_138484.3:879,NM_001199257.1:648,NM_001199256.1:879,NM_001199255.1:777,NM_001199254.1:930,NM_001199253.1:828,NM_001199252.1:1686,NM_001199251.1:1584,NM_001012413.2:777,NM_001012412.3:930,NM_001012411.2:828,NM_001012410.3:1686,NM_001012409.2:1584;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=49;ESP6500_EA_AC=3941,4645;ESP6500_EA_AGE=596.2+/-393.6;ESP6500_EA_GTC=911,2119,1263;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_138484.3:intron,NM_001199257.1:intron,NM_001199256.1:intron,NM_001199255.1:intron,NM_001199254.1:intron,NM_001199253.1:intron,NM_001199252.1:intron,NM_001199251.1:intron,NM_001012413.2:intron,NM_001012412.3:intron,NM_001012411.2:intron,NM_001012410.3:intron,NM_001012409.2:intron;ESP6500_GL=SGOL1;ESP6500_GRCh38_POSITION=3:20178393;ESP6500_GTC=1820,3127,1549;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_138484.3:c.340-46G>A,NM_001199257.1:c.340-46G>A,NM_001199256.1:c.340-46G>A,NM_001199255.1:c.340-46G>A,NM_001199254.1:c.340-46G>A,NM_001199253.1:c.340-46G>A,NM_001199252.1:c.340-46G>A,NM_001199251.1:c.340-46G>A,NM_001012413.2:c.340-46G>A,NM_001012412.3:c.340-46G>A,NM_001012411.2:c.340-46G>A,NM_001012410.3:c.340-46G>A,NM_001012409.2:c.340-46G>A;ESP6500_MAF=45.9003,35.8602,47.9141;ESP6500_TAC=6767,6225	GT:AD:DP:GQ:PL	1/1:0,23:23:69:704,69,0
chr3	21421262	rs451242	A	G	1149.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.74;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs451242;dbSNPBuildID=80;ANN=G|synonymous_variant|LOW|ZNF385D|ZNF385D|transcript|NM_024697.2|protein_coding|8/8|c.1140T>C|p.Pro380Pro|1548/1812|1140/1188|380/395||;p3_1000G_AA=A|||;p3_1000G_AC=4012;p3_1000G_AF=0.801118;p3_1000G_AFR_AF=0.7368;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=11101;p3_1000G_EAS_AF=0.8988;p3_1000G_EUR_AF=0.7584;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21462754;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3339,1067;ESP6500_AA_AGE=722.3+/-409.3;ESP6500_AA_GTC=1281,777,145;ESP6500_CDS_SIZES=NM_024697.2:1188;ESP6500_CG=-11.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=46;ESP6500_EA_AC=6497,2103;ESP6500_EA_AGE=714.6+/-406.0;ESP6500_EA_GTC=2461,1575,264;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024697.2:coding-synonymous;ESP6500_GL=ZNF385D;ESP6500_GRCh38_POSITION=3:21421262;ESP6500_GTC=3742,2352,409;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024697.2:c.1140T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024697.2:p.(P380);ESP6500_MAF=24.4535,24.217,24.3734;ESP6500_TAC=9836,3170	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1178,120,0
chr3	21421295	rs427233	G	A	1283.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.53;SOR=0.829;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs427233;dbSNPBuildID=80;ANN=A|synonymous_variant|LOW|ZNF385D|ZNF385D|transcript|NM_024697.2|protein_coding|8/8|c.1107C>T|p.Ser369Ser|1515/1812|1107/1188|369/395||;p3_1000G_AA=A|||;p3_1000G_AC=4586;p3_1000G_AF=0.915735;p3_1000G_AFR_AF=0.9818;p3_1000G_AMR_AF=0.9352;p3_1000G_AN=5008;p3_1000G_DP=10685;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.8141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21462787;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8313;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4207,199;ESP6500_AA_AGE=125.3+/-162.5;ESP6500_AA_GTC=2008,191,4;ESP6500_CDS_SIZES=NM_024697.2:1188;ESP6500_CG=-11.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_80;ESP6500_DP=59;ESP6500_EA_AC=7142,1458;ESP6500_EA_AGE=277.9+/-293.1;ESP6500_EA_GTC=2965,1212,123;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024697.2:coding-synonymous;ESP6500_GL=ZNF385D;ESP6500_GRCh38_POSITION=3:21421295;ESP6500_GTC=4973,1403,127;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_024697.2:c.1107C>T;ESP6500_HGVS_PROTEIN_VAR=NM_024697.2:p.(S369);ESP6500_MAF=16.9535,4.5166,12.7403;ESP6500_TAC=11349,1657	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1312,135,0
chr3	21421388	rs4455340	A	G	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.073;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=2.28;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4455340;dbSNPBuildID=111;ANN=G|synonymous_variant|LOW|ZNF385D|ZNF385D|transcript|NM_024697.2|protein_coding|8/8|c.1014T>C|p.Asn338Asn|1422/1812|1014/1188|338/395||;p3_1000G_AA=A|||;p3_1000G_AC=1233;p3_1000G_AF=0.246206;p3_1000G_AFR_AF=0.1029;p3_1000G_AMR_AF=0.2133;p3_1000G_AN=5008;p3_1000G_DP=10928;p3_1000G_EAS_AF=0.3462;p3_1000G_EUR_AF=0.325;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=21462880;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2791;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=627,3779;ESP6500_AA_AGE=263.4+/-265.5;ESP6500_AA_GTC=42,543,1618;ESP6500_CDS_SIZES=NM_024697.2:1188;ESP6500_CG=-3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=42;ESP6500_EA_AC=2605,5995;ESP6500_EA_AGE=407.1+/-349.0;ESP6500_EA_GTC=400,1805,2095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_024697.2:coding-synonymous;ESP6500_GL=ZNF385D;ESP6500_GRCh38_POSITION=3:21421388;ESP6500_GTC=442,2348,3713;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_024697.2:c.1014T>C;ESP6500_HGVS_PROTEIN_VAR=NM_024697.2:p.(N338);ESP6500_MAF=30.2907,14.2306,24.8501;ESP6500_TAC=3232,9774	GT:AD:DP:GQ:PL	0/1:17,12:29:99:278,0,448
chr3	23323392	rs9844558	G	A	377.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9844558;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|UBE2E2|UBE2E2|transcript|NM_152653.3|protein_coding|3/5|c.227+106080G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=3715;p3_1000G_AF=0.741813;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.7421;p3_1000G_AN=5008;p3_1000G_DP=16720;p3_1000G_EAS_AF=0.7103;p3_1000G_EUR_AF=0.7097;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23364883;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7403;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:406,36,0
chr3	23918589	rs35054246;516587	G	C	911.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.719;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=2.012;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.017;SOR=0.46;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35054246;dbSNPBuildID=126;ANN=C|upstream_gene_variant|MODIFIER|NKIRAS1|NKIRAS1|transcript|NM_020345.3|protein_coding||c.-7685C>G|||||1543|,C|intron_variant|MODIFIER|RPL15|RPL15|transcript|NM_001253379.1|protein_coding|3/3|c.309+13G>C||||||,C|intron_variant|MODIFIER|RPL15|RPL15|transcript|NM_002948.3|protein_coding|3/3|c.309+13G>C||||||,C|intron_variant|MODIFIER|RPL15|RPL15|transcript|NM_001253384.1|protein_coding|3/4|c.309+13G>C||||||,C|intron_variant|MODIFIER|RPL15|RPL15|transcript|NM_001253383.1|protein_coding|3/3|c.309+13G>C||||||,C|intron_variant|MODIFIER|RPL15|RPL15|transcript|NM_001253382.1|protein_coding|3/3|c.309+13G>C||||||,C|intron_variant|MODIFIER|RPL15|RPL15|transcript|NM_001253380.1|protein_coding|2/2|c.309+13G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=346;p3_1000G_AF=0.0690895;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.0533;p3_1000G_AN=5008;p3_1000G_DP=19832;p3_1000G_EAS_AF=0.2341;p3_1000G_EUR_AF=0.0328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=23960080;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0194;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=65,4341;ESP6500_AA_AGE=62.3+/-99.4;ESP6500_AA_GTC=1,63,2139;ESP6500_CDS_SIZES=NM_002948.3:615,NM_001253384.1:438,NM_001253383.1:615,NM_001253382.1:615,NM_001253380.1:615,NM_001253379.1:615;ESP6500_CG=-7.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=112;ESP6500_EA_AC=339,8261;ESP6500_EA_AGE=117.0+/-176.6;ESP6500_EA_GTC=3,333,3964;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002948.3:intron,NM_001253384.1:intron,NM_001253383.1:intron,NM_001253382.1:intron,NM_001253380.1:intron,NM_001253379.1:intron;ESP6500_GL=RPL15;ESP6500_GRCh38_POSITION=3:23918589;ESP6500_GTC=4,396,6103;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002948.3:c.309+13G>C,NM_001253384.1:c.309+13G>C,NM_001253383.1:c.309+13G>C,NM_001253382.1:c.309+13G>C,NM_001253380.1:c.309+13G>C,NM_001253379.1:c.309+13G>C;ESP6500_MAF=3.9419,1.4753,3.1063;ESP6500_TAC=404,12602;CLINVAR_ALLELEID=500682;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.23918589G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RPL15:6138;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35054246	GT:AD:DP:GQ:PL	0/1:33,37:70:99:940,0,907
chr3	23959587	rs4321479	C	T	307.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.579;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.94;SOR=0.191;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4321479;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|NR1D2|NR1D2|transcript|NM_005126.4|protein_coding|3/7|c.373-84C>T||||||,T|intron_variant|MODIFIER|NR1D2|NR1D2|transcript|NR_110524.1|pseudogene|3/8|n.692-84C>T||||||,T|intron_variant|MODIFIER|NR1D2|NR1D2|transcript|NM_001145425.1|protein_coding|3/7|c.148-84C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3713;p3_1000G_AF=0.741414;p3_1000G_AFR_AF=0.8381;p3_1000G_AMR_AF=0.8228;p3_1000G_AN=5008;p3_1000G_DP=21943;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.7177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24001078;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8333;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,12:19:99:336,0,232
chr3	23967788	rs67657770	A	C	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.921;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.921;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67657770;dbSNPBuildID=130;ANN=C|intron_variant|MODIFIER|NR1D2|NR1D2|transcript|NM_005126.4|protein_coding|6/7|c.1333-25A>C||||||,C|intron_variant|MODIFIER|NR1D2|NR1D2|transcript|NR_110524.1|pseudogene|7/8|n.1759-25A>C||||||,C|intron_variant|MODIFIER|NR1D2|NR1D2|transcript|NM_001145425.1|protein_coding|6/7|c.1108-25A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1781;p3_1000G_AF=0.355631;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.4193;p3_1000G_AN=5008;p3_1000G_DP=18131;p3_1000G_EAS_AF=0.4256;p3_1000G_EUR_AF=0.4006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=24009279;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1012,3366;ESP6500_AA_GTC=127,758,1304;ESP6500_CDS_SIZES=NM_005126.4:1740,NM_001145425.1:1515;ESP6500_CG=3.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=32;ESP6500_EA_AC=3684,4912;ESP6500_EA_GTC=791,2102,1405;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005126.4:intron,NM_001145425.1:intron;ESP6500_GL=NR1D2;ESP6500_GRCh38_POSITION=3:23967788;ESP6500_GTC=918,2860,2709;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005126.4:c.1333-25A>C,NM_001145425.1:c.1108-25A>C;ESP6500_MAF=42.8571,23.1156,36.1955;ESP6500_TAC=4696,8278	GT:AD:DP:GQ:PL	0/1:5,3:8:99:101,0,183
chr3	25569981	rs397988973;rs67669779;rs746323284;rs879129265	GAC	G	289.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.67;SOR=3.611;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs67669779;dbSNPBuildID=135,147,144,138;ANN=G|intron_variant|MODIFIER|RARB|RARB|transcript|NM_001290216.2|protein_coding|7/10|c.630+102_630+103delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NM_001290300.1|protein_coding|4/7|c.480+102_480+103delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NM_000965.4|protein_coding|4/7|c.609+102_609+103delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NM_001290266.1|protein_coding|4/7|c.462+102_462+103delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NM_001290276.1|protein_coding|4/7|c.273+102_273+103delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NM_001290277.1|protein_coding|4/7|c.609+102_609+103delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NM_016152.3|protein_coding|4/7|c.273+102_273+103delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NR_110892.1|pseudogene|3/6|n.918-10526_918-10525delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NR_110893.1|pseudogene|4/6|n.1078+102_1078+103delAC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RARB|RARB|transcript|NM_001290217.1|protein_coding|4/7|c.273+102_273+103delAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,5:5:15:142,15,0
chr3	25733762	rs1488992	T	C	312.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1488992;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_018297.3|protein_coding|8/11|c.1260+110A>G||||||,C|intron_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_001145293.1|protein_coding|8/11|c.1206+110A>G||||||,C|intron_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_001145295.1|protein_coding|8/10|c.1260+110A>G||||||,C|intron_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_001145294.1|protein_coding|8/11|c.1134+110A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3522;p3_1000G_AF=0.703275;p3_1000G_AFR_AF=0.3729;p3_1000G_AMR_AF=0.7983;p3_1000G_AN=5008;p3_1000G_DP=14073;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.8121;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25775253;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:341,27,0
chr3	25733865	rs6550987;198889	A	C	1610.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=50;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.22;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6550987;dbSNPBuildID=116;ANN=C|splice_region_variant&intron_variant|LOW|NGLY1|NGLY1|transcript|NM_018297.3|protein_coding|8/11|c.1260+7T>G||||||,C|splice_region_variant&intron_variant|LOW|NGLY1|NGLY1|transcript|NM_001145293.1|protein_coding|8/11|c.1206+7T>G||||||,C|splice_region_variant&intron_variant|LOW|NGLY1|NGLY1|transcript|NM_001145295.1|protein_coding|8/10|c.1260+7T>G||||||,C|splice_region_variant&intron_variant|LOW|NGLY1|NGLY1|transcript|NM_001145294.1|protein_coding|8/11|c.1134+7T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4008;p3_1000G_AF=0.800319;p3_1000G_AFR_AF=0.6952;p3_1000G_AMR_AF=0.8314;p3_1000G_AN=5008;p3_1000G_DP=15185;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.833;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25775356;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7546;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3207,1199;ESP6500_AA_AGE=411.5+/-335.8;ESP6500_AA_GTC=1170,867,166;ESP6500_CDS_SIZES=NM_018297.3:1965,NM_001145295.1:1677,NM_001145294.1:1839,NM_001145293.1:1911;ESP6500_CG=2.7;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=124;ESP6500_EA_AC=7483,1117;ESP6500_EA_AGE=226.1+/-261.9;ESP6500_EA_GTC=3253,977,70;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018297.3:intron,NM_001145295.1:intron,NM_001145294.1:intron,NM_001145293.1:intron;ESP6500_GL=NGLY1;ESP6500_GRCh38_POSITION=3:25733865;ESP6500_GTC=4423,1844,236;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_018297.3:c.1260+7T>G,NM_001145295.1:c.1260+7T>G,NM_001145294.1:c.1134+7T>G,NM_001145293.1:c.1206+7T>G;ESP6500_MAF=12.9884,27.2129,17.8072;ESP6500_TAC=10690,2316;CLINVAR_ALLELEID=196049;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.25733865A>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=NGLY1:55768;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6550987	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1639,150,0
chr3	25764388	rs11129208	T	C	226.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.4;SOR=4.174;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11129208;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_018297.3|protein_coding|2/11|c.247-77A>G||||||,C|intron_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_001145293.1|protein_coding|2/11|c.247-77A>G||||||,C|intron_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_001145295.1|protein_coding|2/10|c.247-77A>G||||||,C|intron_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_001145294.1|protein_coding|2/11|c.121-77A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3442;p3_1000G_AF=0.6873;p3_1000G_AFR_AF=0.3139;p3_1000G_AMR_AF=0.7925;p3_1000G_AN=5008;p3_1000G_DP=17794;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.8141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25805879;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7382;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:255,21,0
chr3	25794532	rs9831075	C	T	404.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.73;SOR=2.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9831075;dbSNPBuildID=119;ANN=T|splice_region_variant|LOW|OXSM|OXSM|transcript|NM_017897.2|protein_coding|3/3|c.*38C>T||||||,T|splice_region_variant|LOW|OXSM|OXSM|transcript|NM_001145391.1|protein_coding|4/4|c.*38C>T||||||,T|splice_region_variant&non_coding_transcript_exon_variant|LOW|OXSM|OXSM|transcript|NR_026937.1|pseudogene|4/4|n.1071C>T||||||,T|3_prime_UTR_variant|MODIFIER|OXSM|OXSM|transcript|NM_017897.2|protein_coding|3/3|c.*38C>T|||||38|,T|3_prime_UTR_variant|MODIFIER|OXSM|OXSM|transcript|NM_001145391.1|protein_coding|4/4|c.*38C>T|||||38|,T|upstream_gene_variant|MODIFIER|NGLY1|NGLY1|transcript|NM_001145294.1|protein_coding||c.-4667G>A|||||4493|;p3_1000G_AA=T|||;p3_1000G_AC=3711;p3_1000G_AF=0.741014;p3_1000G_AFR_AF=0.5023;p3_1000G_AMR_AF=0.804;p3_1000G_AN=5008;p3_1000G_DP=19352;p3_1000G_EAS_AF=0.9226;p3_1000G_EUR_AF=0.8141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=25836023;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2600,1698;ESP6500_AA_GTC=821,958,370;ESP6500_CDS_SIZES=NM_017897.2:1380,NM_001145391.1:1131;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=17;ESP6500_EA_AC=7136,1300;ESP6500_EA_GTC=3053,1030,135;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017897.2:utr-3,NM_001145391.1:utr-3;ESP6500_GL=OXSM;ESP6500_GRCh38_POSITION=3:25794532;ESP6500_GTC=3874,1988,505;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017897.2:c.*38C>T,NM_001145391.1:c.*38C>T;ESP6500_MAF=15.4101,39.5067,23.5433;ESP6500_TAC=9736,2998	GT:AD:DP:GQ:PL	1/1:0,12:12:36:433,36,0
chr3	26710002	rs35497952	A	T	751.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.292;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=0.888;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.455;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35497952;dbSNPBuildID=126;ANN=T|synonymous_variant|LOW|LRRC3B|LRRC3B|transcript|NM_001317808.1|protein_coding|2/2|c.330A>T|p.Gly110Gly|655/1427|330/780|110/259||,T|synonymous_variant|LOW|LRRC3B|LRRC3B|transcript|NM_052953.3|protein_coding|2/2|c.330A>T|p.Gly110Gly|922/1694|330/780|110/259||,T|synonymous_variant|LOW|LRRC3B|LRRC3B|transcript|NM_001317809.1|protein_coding|2/2|c.330A>T|p.Gly110Gly|768/1540|330/780|110/259||,T|synonymous_variant|LOW|LRRC3B|LRRC3B|transcript|NM_001317810.1|protein_coding|3/3|c.330A>T|p.Gly110Gly|921/1693|330/780|110/259||,T|synonymous_variant|LOW|LRRC3B|LRRC3B|transcript|NM_001317811.1|protein_coding|3/3|c.330A>T|p.Gly110Gly|775/1547|330/780|110/259||;p3_1000G_AA=A|||;p3_1000G_AC=739;p3_1000G_AF=0.147564;p3_1000G_AFR_AF=0.1036;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=21624;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.0805;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=26751493;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1728;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=439,3967;ESP6500_AA_AGE=212.5+/-232.4;ESP6500_AA_GTC=20,399,1784;ESP6500_CDS_SIZES=NM_052953.2:780;ESP6500_CG=-4.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=63;ESP6500_EA_AC=764,7836;ESP6500_EA_AGE=181.8+/-230.4;ESP6500_EA_GTC=43,678,3579;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_052953.2:coding-synonymous;ESP6500_GL=LRRC3B;ESP6500_GRCh38_POSITION=3:26710002;ESP6500_GTC=63,1077,5363;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_052953.2:c.330A>T;ESP6500_HGVS_PROTEIN_VAR=NM_052953.2:p.(G110);ESP6500_MAF=8.8837,9.9637,9.2496;ESP6500_TAC=1203,11803	GT:AD:DP:GQ:PL	0/1:45,29:74:99:780,0,1210
chr3	27345971	rs56104872	G	GGTAA	225.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.53;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs56104872;dbSNPBuildID=129;ANN=GGTAA|intron_variant|MODIFIER|NEK10|NEK10|transcript|NM_152534.4|protein_coding|5/38|c.263+114_263+115insTTAC||||||,GGTAA|intron_variant|MODIFIER|NEK10|NEK10|transcript|NM_199347.3|protein_coding|5/24|c.263+114_263+115insTTAC||||||;p3_1000G_AC=3973;p3_1000G_AF=0.793331;p3_1000G_AFR_AF=0.8116;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=17719;p3_1000G_EAS_AF=0.8631;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27387462;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,3:3:18:1|1:27345971_G_GGTAA:263,18,0
chr3	27345972	rs2370957	C	A	234.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.63;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2370957;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|NEK10|NEK10|transcript|NM_152534.4|protein_coding|5/38|c.263+114G>T||||||,A|intron_variant|MODIFIER|NEK10|NEK10|transcript|NM_199347.3|protein_coding|5/24|c.263+114G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3974;p3_1000G_AF=0.79353;p3_1000G_AFR_AF=0.8124;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=17670;p3_1000G_EAS_AF=0.8631;p3_1000G_EUR_AF=0.7336;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27387463;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.773;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:27345971_G_GGTAA:263,18,0
chr3	27383227	rs1472256	A	G	1089.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.05;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1472256;dbSNPBuildID=88;ANN=G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_001321103.1|protein_coding|24/26|c.3516T>C|p.Asp1172Asp|3810/8117|3516/3780|1172/1259||,G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_001258380.1|protein_coding|23/24|c.3117T>C|p.Asp1039Asp|3188/7387|3117/3273|1039/1090||,G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_003615.4|protein_coding|24/25|c.3489T>C|p.Asp1163Asp|3560/7759|3489/3645|1163/1214||,G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_001258379.1|protein_coding|23/25|c.3132T>C|p.Asp1044Asp|3426/7733|3132/3396|1044/1131||,G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_001321104.1|protein_coding|24/26|c.3477T>C|p.Asp1159Asp|3771/8078|3477/3741|1159/1246||,G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_001321105.1|protein_coding|24/25|c.3477T>C|p.Asp1159Asp|3771/7970|3477/3633|1159/1210||,G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_001321106.1|protein_coding|24/25|c.3465T>C|p.Asp1155Asp|3759/7958|3465/3621|1155/1206||,G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_001321107.1|protein_coding|23/24|c.3132T>C|p.Asp1044Asp|3426/7625|3132/3288|1044/1095||,G|synonymous_variant|LOW|SLC4A7|SLC4A7|transcript|NM_001321108.1|protein_coding|23/25|c.3144T>C|p.Asp1048Asp|3438/7745|3144/3408|1048/1135||,G|non_coding_transcript_exon_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135541.1|pseudogene|23/24|n.3584T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135542.1|pseudogene|22/24|n.3251T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135543.1|pseudogene|22/23|n.3251T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135544.1|pseudogene|23/25|n.3584T>C||||||;p3_1000G_AA=a|||;p3_1000G_AC=4646;p3_1000G_AF=0.927716;p3_1000G_AFR_AF=0.8585;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=16946;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9344;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27424718;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9315;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3847,559;ESP6500_AA_AGE=774.2+/-414.0;ESP6500_AA_GTC=1678,491,34;ESP6500_CDS_SIZES=NM_003615.4:3645,NM_001258380.1:3273,NM_001258379.1:3396;ESP6500_CG=-6.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=108;ESP6500_EA_AC=8077,523;ESP6500_EA_AGE=795.9+/-407.5;ESP6500_EA_GTC=3791,495,14;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003615.4:coding-synonymous,NM_001258380.1:coding-synonymous,NM_001258379.1:coding-synonymous;ESP6500_GL=SLC4A7;ESP6500_GRCh38_POSITION=3:27383227;ESP6500_GTC=5469,986,48;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003615.4:c.3489T>C,NM_001258380.1:c.3117T>C,NM_001258379.1:c.3132T>C;ESP6500_HGVS_PROTEIN_VAR=NM_003615.4:p.(D1163),NM_001258380.1:p.(D1039),NM_001258379.1:p.(D1044);ESP6500_MAF=6.0814,12.6872,8.3192;ESP6500_TAC=11924,1082	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1118,102,0
chr3	27391906	rs2307035	A	T	222.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.36;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2307035;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321103.1|protein_coding|20/25|c.3118-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001258380.1|protein_coding|19/23|c.2719-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_003615.4|protein_coding|20/24|c.3091-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001258379.1|protein_coding|19/24|c.2734-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321104.1|protein_coding|20/25|c.3079-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321105.1|protein_coding|20/24|c.3079-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321106.1|protein_coding|20/24|c.3067-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321107.1|protein_coding|19/23|c.2734-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321108.1|protein_coding|19/24|c.2746-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135541.1|pseudogene|19/23|n.3186-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135542.1|pseudogene|18/23|n.2853-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135543.1|pseudogene|18/22|n.2853-98T>A||||||,T|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135544.1|pseudogene|19/24|n.3186-98T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=1691;p3_1000G_AF=0.33766;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.3199;p3_1000G_AN=5008;p3_1000G_DP=18637;p3_1000G_EAS_AF=0.7282;p3_1000G_EUR_AF=0.3559;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27433397;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3599;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:251,18,0
chr3	27403033	rs1967131	G	C	174.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1967131;dbSNPBuildID=92;ANN=C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321103.1|protein_coding|15/25|c.2321+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001258380.1|protein_coding|14/23|c.1922+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_003615.4|protein_coding|15/24|c.2294+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001258379.1|protein_coding|14/24|c.1937+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321104.1|protein_coding|15/25|c.2282+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321105.1|protein_coding|15/24|c.2282+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321106.1|protein_coding|15/24|c.2270+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321107.1|protein_coding|14/23|c.1937+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NM_001321108.1|protein_coding|14/24|c.1949+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135541.1|pseudogene|14/23|n.2389+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135542.1|pseudogene|13/23|n.2056+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135543.1|pseudogene|13/22|n.2056+106C>G||||||,C|intron_variant|MODIFIER|SLC4A7|SLC4A7|transcript|NR_135544.1|pseudogene|14/24|n.2389+106C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1710;p3_1000G_AF=0.341454;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=17473;p3_1000G_EAS_AF=0.7292;p3_1000G_EUR_AF=0.3598;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27444524;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:203,18,0
chr3	27717343	rs190190446	G	A	516.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.947;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-1.778;SOR=0.798;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs190190446;dbSNPBuildID=135;ANN=A|synonymous_variant|LOW|EOMES|EOMES|transcript|NM_001278182.1|protein_coding|6/6|c.1845C>T|p.Ser615Ser|2266/3660|1845/2118|615/705||,A|synonymous_variant|LOW|EOMES|EOMES|transcript|NM_001278183.1|protein_coding|6/6|c.960C>T|p.Ser320Ser|1250/2644|960/1233|320/410||,A|synonymous_variant|LOW|EOMES|EOMES|transcript|NM_005442.3|protein_coding|6/6|c.1788C>T|p.Ser596Ser|2209/3603|1788/2061|596/686||;p3_1000G_AA=G|||;p3_1000G_AC=15;p3_1000G_AF=0.00299521;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17719;p3_1000G_EAS_AF=0.0149;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27758834;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=0,4406;ESP6500_AA_GTC=0,0,2203;ESP6500_CDS_SIZES=NM_005442.2:2061;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_135;ESP6500_DP=82;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005442.2:coding-synonymous;ESP6500_GL=EOMES;ESP6500_GRCh38_POSITION=3:27717343;ESP6500_GTC=0,1,6502;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005442.2:c.1788C>T;ESP6500_HGVS_PROTEIN_VAR=NM_005442.2:p.(S596);ESP6500_MAF=0.0116,0.0,0.0077;ESP6500_TAC=1,13005	GT:AD:DP:GQ:PL	0/1:28,20:48:99:545,0,915
chr3	27717846	rs376762087	AC	A	19.78	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.8;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.41;ReadPosRankSum=0.566;SOR=0.693;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs376762087;dbSNPBuildID=138;ANN=A|intron_variant|MODIFIER|EOMES|EOMES|transcript|NM_001278182.1|protein_coding|5/5|c.1380-39delG||||||,A|intron_variant|MODIFIER|EOMES|EOMES|transcript|NM_001278183.1|protein_coding|5/5|c.495-39delG||||||,A|intron_variant|MODIFIER|EOMES|EOMES|transcript|NM_005442.3|protein_coding|5/5|c.1380-96delG||||||	GT:AD:DP:GQ:PGT:PID:PL	0/1:10,4:14:57:0|1:27717846_AC_A:57,0,212
chr3	27717847	rs9866625	C	A	181.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.522;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.566;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9866625;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|EOMES|EOMES|transcript|NM_001278182.1|protein_coding|5/5|c.1380-39G>T||||||,A|intron_variant|MODIFIER|EOMES|EOMES|transcript|NM_001278183.1|protein_coding|5/5|c.495-39G>T||||||,A|intron_variant|MODIFIER|EOMES|EOMES|transcript|NM_005442.3|protein_coding|5/5|c.1380-96G>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=3576;p3_1000G_AF=0.714058;p3_1000G_AFR_AF=0.8215;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=16105;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.4642;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27759338;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7515;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,10:14:57:1|0:27717846_AC_A:210,0,57
chr3	27721936	rs368178421;~rs3062761;210936	G	GCGGCGC	222.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.13;SOR=1.022;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs368178421;dbSNPBuildID=138;ANN=GCGGCGC|conservative_inframe_insertion|MODERATE|EOMES|EOMES|transcript|NM_001278182.1|protein_coding|1/6|c.358_359insGCGCCG|p.Ala119_Ala120insGlyAla|779/3660|358/2118|120/705||,GCGGCGC|conservative_inframe_insertion|MODERATE|EOMES|EOMES|transcript|NM_005442.3|protein_coding|1/6|c.358_359insGCGCCG|p.Ala119_Ala120insGlyAla|779/3603|358/2061|120/686||,GCGGCGC|intron_variant|MODIFIER|EOMES|EOMES|transcript|NM_001278183.1|protein_coding|1/5|c.-5+493_-5+494insGCGCCG||||||;p3_1000G_AC=2685;p3_1000G_AF=0.536142;p3_1000G_AFR_AF=0.3147;p3_1000G_AMR_AF=0.5274;p3_1000G_AN=5008;p3_1000G_DP=7250;p3_1000G_EAS_AF=0.8363;p3_1000G_EUR_AF=0.3837;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=27763427;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6892;p3_1000G_VT=INDEL;ESP6500_AA_AC=101,91,844;ESP6500_AA_GTC=44,2,11,38,13,410;ESP6500_CDS_SIZES=NM_005442.2:2061,NM_005442.2:2061;ESP6500_CG=-0.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_102;ESP6500_DP=1;ESP6500_EA_AC=316,357,1963;ESP6500_EA_GTC=136,0,44,143,71,924;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005442.2:coding,NM_005442.2:coding;ESP6500_GL=EOMES;ESP6500_GRCh38_POSITION=3:27721936;ESP6500_GTC=180,2,55,181,84,1334;ESP6500_GTS=A1A1,A1A2,A1R,A2A2,A2R,RR;ESP6500_HGVS_CDNA_VAR=NM_005442.2:c.358_359insGCGCCG,NM_005442.2:c.358_359insGCG;ESP6500_HGVS_PROTEIN_VAR=NM_005442.2:p.(A120delinsGAA),NM_005442.2:p.(A120delinsGA);ESP6500_MAF=25.5311,18.5328,23.5566;ESP6500_TAC=417,448,2807;CLINVAR_AF_ESP=0.1220;CLINVAR_AF_EXAC=0.47864;CLINVAR_ALLELEID=207064;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.27721936_27721937insCGGCGC;CLINVAR_CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLINVAR_CLNSIG=Conflicting_interpretations_of_pathogenicity;CLINVAR_CLNSIGCONF=Benign(1),Uncertain_significance(1);CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_GENEINFO=EOMES:8320;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=368178421	GT:AD:DP:GQ:PL	1/1:0,5:5:18:260,18,0
chr3	28478926	rs1563656	T	A	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=1.5;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1563656;dbSNPBuildID=88;ANN=A|missense_variant|MODERATE|ZCWPW2|ZCWPW2|transcript|NM_001040432.3|protein_coding|5/10|c.605T>A|p.Leu202Gln|793/2937|605/1071|202/356||,A|missense_variant|MODERATE|ZCWPW2|ZCWPW2|transcript|NM_001324169.1|protein_coding|4/9|c.605T>A|p.Leu202Gln|673/2817|605/1071|202/356||,A|intron_variant|MODIFIER|ZCWPW2|ZCWPW2|transcript|NR_136708.1|pseudogene|3/7|n.561-13201T>A||||||,A|intron_variant|MODIFIER|ZCWPW2|ZCWPW2|transcript|NM_001324170.1|protein_coding|3/6|c.493-13201T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2277;p3_1000G_AF=0.454673;p3_1000G_AFR_AF=0.323;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=12654;p3_1000G_EAS_AF=0.6171;p3_1000G_EUR_AF=0.4304;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28520417;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1561,2845;ESP6500_AA_AGE=664.3+/-401.3;ESP6500_AA_GTC=279,1003,921;ESP6500_CDS_SIZES=NM_001040432.1:1071;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=70;ESP6500_EA_AC=3658,4938;ESP6500_EA_AGE=619.7+/-397.0;ESP6500_EA_GTC=768,2122,1408;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001040432.1:missense;ESP6500_GL=ZCWPW2;ESP6500_GRCh38_POSITION=3:28478926;ESP6500_GS=113;ESP6500_GTC=1047,3125,2329;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_001040432.1:c.605T>A;ESP6500_HGVS_PROTEIN_VAR=NM_001040432.1:p.(L202Q);ESP6500_MAF=42.5547,35.429,40.14;ESP6500_PH=benign:0.0;ESP6500_TAC=5219,7783	GT:AD:DP:GQ:PL	0/1:4,6:10:69:118,0,69
chr3	28492167	rs13100556	G	A	70.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.598;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13100556;dbSNPBuildID=121;ANN=A|missense_variant|MODERATE|ZCWPW2|ZCWPW2|transcript|NM_001324170.1|protein_coding|4/7|c.533G>A|p.Arg178Lys|601/2631|533/885|178/294||,A|synonymous_variant|LOW|ZCWPW2|ZCWPW2|transcript|NM_001040432.3|protein_coding|6/10|c.651G>A|p.Lys217Lys|839/2937|651/1071|217/356||,A|synonymous_variant|LOW|ZCWPW2|ZCWPW2|transcript|NM_001324169.1|protein_coding|5/9|c.651G>A|p.Lys217Lys|719/2817|651/1071|217/356||,A|non_coding_transcript_exon_variant|MODIFIER|ZCWPW2|ZCWPW2|transcript|NR_136708.1|pseudogene|4/8|n.601G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1282;p3_1000G_AF=0.25599;p3_1000G_AFR_AF=0.0938;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=14198;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.161;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28533658;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=428,3978;ESP6500_AA_AGE=183.3+/-210.9;ESP6500_AA_GTC=22,384,1797;ESP6500_CDS_SIZES=NM_001040432.1:1071;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=45;ESP6500_EA_AC=1372,7226;ESP6500_EA_AGE=242.6+/-272.5;ESP6500_EA_GTC=111,1150,3038;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001040432.1:coding-synonymous;ESP6500_GL=ZCWPW2;ESP6500_GRCh38_POSITION=3:28492167;ESP6500_GTC=133,1534,4835;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001040432.1:c.651G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001040432.1:p.(K217);ESP6500_MAF=15.9572,9.714,13.8419;ESP6500_TAC=1800,11204	GT:AD:DP:GQ:PL	0/1:3,3:6:74:99,0,74
chr3	28511153	rs4680751	G	T	943.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.634;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=1.007;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.489;SOR=0.491;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4680751;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|ZCWPW2|ZCWPW2|transcript|NM_001040432.3|protein_coding|6/9|c.658-2911G>T||||||,T|intron_variant|MODIFIER|ZCWPW2|ZCWPW2|transcript|NR_136708.1|pseudogene|4/7|n.608-2911G>T||||||,T|intron_variant|MODIFIER|ZCWPW2|ZCWPW2|transcript|NM_001324169.1|protein_coding|5/8|c.658-2911G>T||||||,T|intron_variant|MODIFIER|ZCWPW2|ZCWPW2|transcript|NM_001324170.1|protein_coding|4/6|c.540-2911G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1310;p3_1000G_AF=0.261581;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.2305;p3_1000G_AN=5008;p3_1000G_DP=19061;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=28552644;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3742;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:25,38:63:99:972,0,692
chr3	29434937	rs3773018	G	A	2528.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=83;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.47;SOR=1.32;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3773018;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003793.2|protein_coding|2/14|c.248+22G>A||||||,A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177712.1|protein_coding|2/13|c.248+22G>A||||||,A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_014483.3|protein_coding|2/12|c.248+22G>A||||||,A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003792.2|protein_coding|2/13|c.245+22G>A||||||,A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177711.1|protein_coding|2/13|c.248+22G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2357;p3_1000G_AF=0.470647;p3_1000G_AFR_AF=0.4501;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=19324;p3_1000G_EAS_AF=0.5446;p3_1000G_EUR_AF=0.3817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29476428;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4928;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1992,2414;ESP6500_AA_AGE=558.7+/-380.1;ESP6500_AA_GTC=462,1068,673;ESP6500_CDS_SIZES=NM_014483.3:1263,NM_001177712.1:1302,NM_001177711.1:1266,NM_001003793.2:1314,NM_001003792.2:1260;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=138;ESP6500_EA_AC=3465,5135;ESP6500_EA_AGE=508.6+/-377.1;ESP6500_EA_GTC=705,2055,1540;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014483.3:intron,NM_001177712.1:intron,NM_001177711.1:intron,NM_001003793.2:intron,NM_001003792.2:intron;ESP6500_GL=RBMS3;ESP6500_GRCh38_POSITION=3:29434937;ESP6500_GTC=1167,3123,2213;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014483.3:c.248+22G>A,NM_001177712.1:c.248+22G>A,NM_001177711.1:c.248+22G>A,NM_001003793.2:c.248+22G>A,NM_001003792.2:c.245+22G>A;ESP6500_MAF=40.2907,45.2111,41.9576;ESP6500_TAC=5457,7549	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2557,249,0
chr3	29586988	rs3773103	A	T	711.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.89;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3773103;dbSNPBuildID=107;ANN=T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003793.2|protein_coding|3/14|c.308-126A>T||||||,T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177712.1|protein_coding|3/13|c.308-126A>T||||||,T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_014483.3|protein_coding|3/12|c.308-126A>T||||||,T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003792.2|protein_coding|3/13|c.305-126A>T||||||,T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177711.1|protein_coding|3/13|c.308-126A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1112;p3_1000G_AF=0.222045;p3_1000G_AFR_AF=0.1929;p3_1000G_AMR_AF=0.1729;p3_1000G_AN=5008;p3_1000G_DP=18603;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.1262;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29628479;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2853;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:740,63,0
chr3	29587148	rs3773104	C	T	791.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.45;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3773104;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|RBMS3|RBMS3|transcript|NM_001003793.2|protein_coding|4/15|c.342C>T|p.Ala114Ala|712/8217|342/1314|114/437||,T|synonymous_variant|LOW|RBMS3|RBMS3|transcript|NM_001177712.1|protein_coding|4/14|c.342C>T|p.Ala114Ala|712/1777|342/1302|114/433||,T|synonymous_variant|LOW|RBMS3|RBMS3|transcript|NM_014483.3|protein_coding|4/13|c.342C>T|p.Ala114Ala|712/1738|342/1263|114/420||,T|synonymous_variant|LOW|RBMS3|RBMS3|transcript|NM_001003792.2|protein_coding|4/14|c.339C>T|p.Ala113Ala|709/8163|339/1260|113/419||,T|synonymous_variant|LOW|RBMS3|RBMS3|transcript|NM_001177711.1|protein_coding|4/14|c.342C>T|p.Ala114Ala|712/8169|342/1266|114/421||;p3_1000G_AA=C|||;p3_1000G_AC=588;p3_1000G_AF=0.117412;p3_1000G_AFR_AF=0.0287;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=16976;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.0298;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29628639;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1595;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=169,4237;ESP6500_AA_AGE=111.6+/-149.8;ESP6500_AA_GTC=2,165,2036;ESP6500_CDS_SIZES=NM_014483.3:1263,NM_001177712.1:1302,NM_001177711.1:1266,NM_001003793.2:1314,NM_001003792.2:1260;ESP6500_CG=-11.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=126;ESP6500_EA_AC=237,8363;ESP6500_EA_AGE=97.0+/-158.7;ESP6500_EA_GTC=8,221,4071;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014483.3:coding-synonymous,NM_001177712.1:coding-synonymous,NM_001177711.1:coding-synonymous,NM_001003793.2:coding-synonymous,NM_001003792.2:coding-synonymous;ESP6500_GL=RBMS3;ESP6500_GRCh38_POSITION=3:29587148;ESP6500_GTC=10,386,6107;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014483.3:c.342C>T,NM_001177712.1:c.342C>T,NM_001177711.1:c.342C>T,NM_001003793.2:c.342C>T,NM_001003792.2:c.339C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014483.3:p.(A114),NM_001177712.1:p.(A114),NM_001177711.1:p.(A114),NM_001003793.2:p.(A114),NM_001003792.2:p.(A113);ESP6500_MAF=2.7558,3.8357,3.1216;ESP6500_TAC=406,12600	GT:AD:DP:GQ:PL	1/1:0,26:26:78:820,78,0
chr3	29762809	rs7340719	C	A	295.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7340719;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003793.2|protein_coding|5/14|c.558-101C>A||||||,A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177712.1|protein_coding|5/13|c.558-101C>A||||||,A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_014483.3|protein_coding|5/12|c.558-101C>A||||||,A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003792.2|protein_coding|5/13|c.555-101C>A||||||,A|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177711.1|protein_coding|5/13|c.558-101C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=2394;p3_1000G_AF=0.478035;p3_1000G_AFR_AF=0.6467;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=18999;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.4354;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29804300;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:324,27,0
chr3	29762996	rs1371839	A	T	771.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.58;SOR=1.781;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1371839;dbSNPBuildID=88;ANN=T|splice_region_variant&intron_variant|LOW|RBMS3|RBMS3|transcript|NM_001003793.2|protein_coding|6/14|c.637+7A>T||||||,T|splice_region_variant&intron_variant|LOW|RBMS3|RBMS3|transcript|NM_001177712.1|protein_coding|6/13|c.637+7A>T||||||,T|splice_region_variant&intron_variant|LOW|RBMS3|RBMS3|transcript|NM_014483.3|protein_coding|6/12|c.637+7A>T||||||,T|splice_region_variant&intron_variant|LOW|RBMS3|RBMS3|transcript|NM_001003792.2|protein_coding|6/13|c.634+7A>T||||||,T|splice_region_variant&intron_variant|LOW|RBMS3|RBMS3|transcript|NM_001177711.1|protein_coding|6/13|c.637+7A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2252;p3_1000G_AF=0.449681;p3_1000G_AFR_AF=0.6293;p3_1000G_AMR_AF=0.3732;p3_1000G_AN=5008;p3_1000G_DP=16717;p3_1000G_EAS_AF=0.3095;p3_1000G_EUR_AF=0.3907;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29804487;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4663;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2545,1861;ESP6500_AA_AGE=616.5+/-392.8;ESP6500_AA_GTC=780,985,438;ESP6500_CDS_SIZES=NM_014483.3:1263,NM_001177712.1:1302,NM_001177711.1:1266,NM_001003793.2:1314,NM_001003792.2:1260;ESP6500_CG=0.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=53;ESP6500_EA_AC=3495,5103;ESP6500_EA_AGE=504.7+/-376.2;ESP6500_EA_GTC=725,2045,1529;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014483.3:intron,NM_001177712.1:intron,NM_001177711.1:intron,NM_001003793.2:intron,NM_001003792.2:intron;ESP6500_GL=RBMS3;ESP6500_GRCh38_POSITION=3:29762996;ESP6500_GTC=1505,3030,1967;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_014483.3:c.637+7A>T,NM_001177712.1:c.637+7A>T,NM_001177711.1:c.637+7A>T,NM_001003793.2:c.637+7A>T,NM_001003792.2:c.634+7A>T;ESP6500_MAF=40.649,42.2379,46.4472;ESP6500_TAC=6040,6964	GT:AD:DP:GQ:PL	1/1:0,27:27:81:800,81,0
chr3	29763018	rs1371840	T	C	500.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.46;SOR=2.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1371840;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003793.2|protein_coding|6/14|c.637+29T>C||||||,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177712.1|protein_coding|6/13|c.637+29T>C||||||,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_014483.3|protein_coding|6/12|c.637+29T>C||||||,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003792.2|protein_coding|6/13|c.634+29T>C||||||,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177711.1|protein_coding|6/13|c.637+29T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2433;p3_1000G_AF=0.485823;p3_1000G_AFR_AF=0.6679;p3_1000G_AMR_AF=0.4323;p3_1000G_AN=5008;p3_1000G_DP=16972;p3_1000G_EAS_AF=0.3363;p3_1000G_EUR_AF=0.4414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29804509;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4775;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2730,1674;ESP6500_AA_AGE=627.8+/-395.0;ESP6500_AA_GTC=867,996,339;ESP6500_CDS_SIZES=NM_014483.3:1263,NM_001177712.1:1302,NM_001177711.1:1266,NM_001003793.2:1314,NM_001003792.2:1260;ESP6500_CG=-4.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=44;ESP6500_EA_AC=3783,4817;ESP6500_EA_AGE=526.0+/-380.9;ESP6500_EA_GTC=850,2083,1367;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014483.3:intron,NM_001177712.1:intron,NM_001177711.1:intron,NM_001003793.2:intron,NM_001003792.2:intron;ESP6500_GL=RBMS3;ESP6500_GRCh38_POSITION=3:29763018;ESP6500_GTC=1717,3079,1706;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014483.3:c.637+29T>C,NM_001177712.1:c.637+29T>C,NM_001177711.1:c.637+29T>C,NM_001003793.2:c.637+29T>C,NM_001003792.2:c.634+29T>C;ESP6500_MAF=43.9884,38.0109,49.9154;ESP6500_TAC=6513,6491	GT:AD:DP:GQ:PL	1/1:0,17:17:51:529,51,0
chr3	29936248	rs1449287	T	C	2139.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.97;SOR=2.381;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1449287;dbSNPBuildID=88;ANN=C|upstream_gene_variant|MODIFIER|RBMS3-AS1|RBMS3-AS1|transcript|NR_046556.1|pseudogene||n.-2092A>G|||||2092|,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003793.2|protein_coding|11/14|c.1050+52T>C||||||,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177712.1|protein_coding|12/13|c.1089+52T>C||||||,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_014483.3|protein_coding|11/12|c.1050+52T>C||||||,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003792.2|protein_coding|10/13|c.996+52T>C||||||,C|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177711.1|protein_coding|11/13|c.1050+52T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=4201;p3_1000G_AF=0.838858;p3_1000G_AFR_AF=0.6672;p3_1000G_AMR_AF=0.8545;p3_1000G_AN=5008;p3_1000G_DP=22079;p3_1000G_EAS_AF=0.9544;p3_1000G_EUR_AF=0.9046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=29977739;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8732;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1891,763;ESP6500_AA_GTC=684,523,120;ESP6500_CDS_SIZES=NM_014483.3:1263,NM_001177712.1:1302,NM_001177711.1:1266,NM_001003793.2:1314,NM_001003792.2:1260;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=78;ESP6500_EA_AC=4192,426;ESP6500_EA_GTC=1907,378,24;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014483.3:intron,NM_001177712.1:intron,NM_001177711.1:intron,NM_001003793.2:intron,NM_001003792.2:intron;ESP6500_GL=RBMS3;ESP6500_GRCh38_POSITION=3:29936248;ESP6500_GTC=2591,901,144;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014483.3:c.1050+52T>C,NM_001177712.1:c.1089+52T>C,NM_001177711.1:c.1050+52T>C,NM_001003793.2:c.1050+52T>C,NM_001003792.2:c.996+52T>C;ESP6500_MAF=9.2248,28.7491,16.3504;ESP6500_TAC=6083,1189	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2168,180,0
chr3	29988233	rs1868491	C	T	373.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.52;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=3.01;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=1.57;SOR=1.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1868491;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003793.2|protein_coding|13/14|c.1179+10C>T||||||,T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177712.1|protein_coding|13/13|c.1170+10C>T||||||,T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_014483.3|protein_coding|12/12|c.1131+10C>T||||||,T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001003792.2|protein_coding|12/13|c.1125+10C>T||||||,T|intron_variant|MODIFIER|RBMS3|RBMS3|transcript|NM_001177711.1|protein_coding|12/13|c.1131+10C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=1204;p3_1000G_AF=0.240415;p3_1000G_AFR_AF=0.1467;p3_1000G_AMR_AF=0.3256;p3_1000G_AN=5008;p3_1000G_DP=17404;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.2445;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30029724;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1943;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=722,3684;ESP6500_AA_AGE=757.5+/-412.7;ESP6500_AA_GTC=55,612,1536;ESP6500_CDS_SIZES=NM_014483.3:1263,NM_001177712.1:1302,NM_001177711.1:1266,NM_001003793.2:1314,NM_001003792.2:1260;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=66;ESP6500_EA_AC=1985,6615;ESP6500_EA_AGE=722.6+/-406.4;ESP6500_EA_GTC=252,1481,2567;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014483.3:intron,NM_001177712.1:intron,NM_001177711.1:intron,NM_001003793.2:intron,NM_001003792.2:intron;ESP6500_GL=RBMS3;ESP6500_GRCh38_POSITION=3:29988233;ESP6500_GTC=307,2093,4103;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014483.3:c.1131+10C>T,NM_001177712.1:c.1170+10C>T,NM_001177711.1:c.1131+10C>T,NM_001003793.2:c.1179+10C>T,NM_001003792.2:c.1125+10C>T;ESP6500_MAF=23.0814,16.3867,20.8135;ESP6500_TAC=2707,10299	GT:AD:DP:GQ:PL	0/1:21,16:37:99:402,0,553
chr3	30644922	rs1155705;36867	A	G	1087.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1155705;dbSNPBuildID=87;ANN=G|splice_region_variant&intron_variant|LOW|TGFBR2|TGFBR2|transcript|NM_001024847.2|protein_coding|3/7|c.338+7A>G||||||,G|splice_region_variant&intron_variant|LOW|TGFBR2|TGFBR2|transcript|NM_003242.5|protein_coding|2/6|c.263+7A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2068;p3_1000G_AF=0.412939;p3_1000G_AFR_AF=0.3419;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=19165;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.335;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30686414;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1464,2942;ESP6500_AA_AGE=678.7+/-403.6;ESP6500_AA_GTC=235,994,974;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...7048&amp%3Brs...1155705;ESP6500_CDS_SIZES=NM_003242.5:1704,NM_001024847.2:1779;ESP6500_CG=-4.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=49;ESP6500_EA_AC=2718,5882;ESP6500_EA_AGE=680.7+/-403.7;ESP6500_EA_GTC=444,1830,2026;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003242.5:intron,NM_001024847.2:intron;ESP6500_GL=TGFBR2;ESP6500_GRCh38_POSITION=3:30644922;ESP6500_GTC=679,2824,3000;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003242.5:c.263+7A>G,NM_001024847.2:c.338+7A>G;ESP6500_MAF=31.6047,33.2274,32.1544;ESP6500_TAC=4182,8824;CLINVAR_AF_ESP=0.3215;CLINVAR_AF_EXAC=0.37255;CLINVAR_AF_TGP=0.4129;CLINVAR_ALLELEID=45528;CLINVAR_CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C2697932,Orphanet:ORPHA60030,SNOMED_CT:446263001|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374;CLINVAR_CLNDN=Marfan_syndrome|Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.30644922A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31751;CLINVAR_GENEINFO=TGFBR2:7048;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1155705	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1116,102,0
chr3	30671634	rs11466512;44658	T	A	849.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.415;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=1.001;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-2.04;SOR=0.564;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11466512;dbSNPBuildID=120;ANN=A|splice_region_variant&intron_variant|LOW|TGFBR2|TGFBR2|transcript|NM_001024847.2|protein_coding|4/7|c.530-4T>A||||||,A|splice_region_variant&intron_variant|LOW|TGFBR2|TGFBR2|transcript|NM_003242.5|protein_coding|3/6|c.455-4T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1362;p3_1000G_AF=0.271965;p3_1000G_AFR_AF=0.1407;p3_1000G_AMR_AF=0.4222;p3_1000G_AN=5008;p3_1000G_DP=21043;p3_1000G_EAS_AF=0.3264;p3_1000G_EUR_AF=0.326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30713126;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=672,3734;ESP6500_AA_AGE=283.4+/-277.1;ESP6500_AA_GTC=42,588,1573;ESP6500_CDS_SIZES=NM_003242.5:1704,NM_001024847.2:1779;ESP6500_CG=3.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=110;ESP6500_EA_AC=2651,5949;ESP6500_EA_AGE=424.3+/-354.6;ESP6500_EA_GTC=416,1819,2065;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003242.5:intron,NM_001024847.2:intron;ESP6500_GL=TGFBR2;ESP6500_GRCh38_POSITION=3:30671634;ESP6500_GTC=458,2407,3638;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_003242.5:c.455-4T>A,NM_001024847.2:c.530-4T>A;ESP6500_MAF=30.8256,15.2519,25.5497;ESP6500_TAC=3323,9683;CLINVAR_AF_ESP=0.2555;CLINVAR_AF_EXAC=0.29277;CLINVAR_AF_TGP=0.2720;CLINVAR_ALLELEID=53825;CLINVAR_CLNDISDB=MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C2697932,Orphanet:ORPHA60030,SNOMED_CT:446263001|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736;CLINVAR_CLNDN=Marfan_syndrome|Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype;CLINVAR_CLNHGVS=NC_000003.12:g.30671634T>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31780;CLINVAR_GENEINFO=TGFBR2:7048;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11466512	GT:AD:DP:GQ:PL	0/1:24,33:57:99:878,0,544
chr3	30728439	rs12054099	G	A	367.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.255;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=6.805;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.27;SOR=2.235;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12054099;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|GADL1|GADL1|transcript|NM_207359.2|protein_coding|14/14|c.1393-24C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=746;p3_1000G_AF=0.148962;p3_1000G_AFR_AF=0.1278;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=16986;p3_1000G_EAS_AF=0.2232;p3_1000G_EUR_AF=0.0825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30769931;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2403;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=560,3846;ESP6500_AA_AGE=219.7+/-237.4;ESP6500_AA_GTC=32,496,1675;ESP6500_CDS_SIZES=NM_207359.2:1566;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=35;ESP6500_EA_AC=758,7842;ESP6500_EA_AGE=162.6+/-215.3;ESP6500_EA_GTC=32,694,3574;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207359.2:intron;ESP6500_GL=GADL1;ESP6500_GRCh38_POSITION=3:30728439;ESP6500_GTC=64,1190,5249;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_207359.2:c.1393-24C>T;ESP6500_MAF=8.814,12.7099,10.1338;ESP6500_TAC=1318,11688	GT:AD:DP:GQ:PL	0/1:13,14:27:99:396,0,315
chr3	30778339	rs3043043;rs796664249	ACT	A	143.0	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.31;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs3043043;dbSNPBuildID=138,146;ANN=A|intron_variant|MODIFIER|GADL1|GADL1|transcript|NM_207359.2|protein_coding|13/14|c.1303-73_1303-72delAG||||||;p3_1000G_AC=1077;p3_1000G_AF=0.215056;p3_1000G_AFR_AF=0.4728;p3_1000G_AMR_AF=0.0591;p3_1000G_AN=5008;p3_1000G_DP=17994;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.0159;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30819831;p3_1000G_GRCH37_REF=ACT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0869;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0
chr3	30786233	rs58010707	G	A	349.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.2;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.807;SOR=0.818;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58010707;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|GADL1|GADL1|transcript|NM_207359.2|protein_coding|13/14|c.1302+122C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=341;p3_1000G_AF=0.0680911;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=18929;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30827725;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0164;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,12:29:99:378,0,601
chr3	30786412	rs6550024	A	G	1334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.22;SOR=1.73;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6550024;dbSNPBuildID=116;ANN=G|splice_region_variant&intron_variant|LOW|GADL1|GADL1|transcript|NM_207359.2|protein_coding|12/14|c.1251-6T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1735;p3_1000G_AF=0.346446;p3_1000G_AFR_AF=0.6172;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=19651;p3_1000G_EAS_AF=0.4831;p3_1000G_EUR_AF=0.0358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30827904;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3476;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2219,2169;ESP6500_AA_AGE=573.8+/-383.6;ESP6500_AA_GTC=557,1105,532;ESP6500_CDS_SIZES=NM_207359.2:1566;ESP6500_CG=5.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=88;ESP6500_EA_AC=259,8333;ESP6500_EA_AGE=97.5+/-159.1;ESP6500_EA_GTC=2,255,4039;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207359.2:intron;ESP6500_GL=GADL1;ESP6500_GRCh38_POSITION=3:30786412;ESP6500_GTC=559,1360,4571;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_207359.2:c.1251-6T>C;ESP6500_MAF=3.0144,49.4303,19.0909;ESP6500_TAC=2478,10502	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1363,117,0
chr3	30800806	rs201043079;rs773344824	GACAC	G	340.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.92;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=35.21;ReadPosRankSum=-0.673;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10553549,rs201043079;dbSNPBuildID=137,144;ANN=G|intron_variant|MODIFIER|GADL1|GADL1|transcript|NM_207359.2|protein_coding|12/14|c.1250+79_1250+82delGTGT||||||	GT:AD:DP:GQ:PL	0/1:1,8:9:20:308,0,20
chr3	30844161	rs201973599;~rs76437695	GC	G	585.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.672;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=7.51;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=0.215;SOR=2.428;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs201973599;dbSNPBuildID=137;ANN=G|intron_variant|MODIFIER|GADL1|GADL1|transcript|NM_207359.2|protein_coding|8/14|c.786+48delG||||||;p3_1000G_AA=C|C|-|deletion;p3_1000G_AC=307;p3_1000G_AF=0.0613019;p3_1000G_AFR_AF=0.003;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18024;p3_1000G_EAS_AF=0.245;p3_1000G_EUR_AF=0.007;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30885653;p3_1000G_GRCH37_REF=GC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0501;p3_1000G_VT=INDEL;ESP6500_AA_AC=25,4241;ESP6500_AA_GTC=0,25,2108;ESP6500_CDS_SIZES=NM_207359.2:1566;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=116;ESP6500_EA_AC=7,8247;ESP6500_EA_GTC=0,7,4120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207359.2:intron;ESP6500_GL=GADL1;ESP6500_GRCh38_POSITION=3:30844161;ESP6500_GTC=0,32,6228;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_207359.2:c.786+48del1;ESP6500_MAF=0.0848,0.586,0.2556;ESP6500_TAC=32,12488	GT:AD:DP:GQ:PL	0/1:17,18:35:99:623,0,581
chr3	30844314	rs1494738	T	C	1030.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.13;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.297;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=-0.17;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1494738;dbSNPBuildID=88;ANN=C|intron_variant|MODIFIER|GADL1|GADL1|transcript|NM_207359.2|protein_coding|7/14|c.732-50A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2607;p3_1000G_AF=0.520567;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=18117;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.333;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30885806;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5634;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2487,1919;ESP6500_AA_AGE=548.4+/-377.5;ESP6500_AA_GTC=716,1055,432;ESP6500_CDS_SIZES=NM_207359.2:1566;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=156;ESP6500_EA_AC=2942,5658;ESP6500_EA_AGE=668.9+/-402.6;ESP6500_EA_GTC=503,1936,1861;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207359.2:intron;ESP6500_GL=GADL1;ESP6500_GRCh38_POSITION=3:30844314;ESP6500_GTC=1219,2991,2293;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207359.2:c.732-50A>G;ESP6500_MAF=34.2093,43.5542,41.7423;ESP6500_TAC=5429,7577	GT:AD:DP:GQ:PL	0/1:25,32:57:99:1059,0,606
chr3	30861516	rs6774917	T	C	401.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.11;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=3.096;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.32;ReadPosRankSum=1.29;SOR=2.049;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6774917;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|GADL1|GADL1|transcript|NM_207359.2|protein_coding|2/14|c.210+77A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1306;p3_1000G_AF=0.260783;p3_1000G_AFR_AF=0.2065;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=21258;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30903008;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,13:18:99:430,0,112
chr3	30861812	rs1393745	C	T	294.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.571;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=16.221;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.47;SOR=4.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1393745;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|GADL1|GADL1|transcript|NM_207359.2|protein_coding|1/14|c.38-47G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=1305;p3_1000G_AF=0.260583;p3_1000G_AFR_AF=0.2057;p3_1000G_AMR_AF=0.3084;p3_1000G_AN=5008;p3_1000G_DP=20444;p3_1000G_EAS_AF=0.4851;p3_1000G_EUR_AF=0.1511;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=30903304;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.182;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=266,1118;ESP6500_AA_GTC=22,222,448;ESP6500_CDS_SIZES=NM_207359.2:1566;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=62;ESP6500_EA_AC=519,2663;ESP6500_EA_GTC=43,433,1115;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207359.2:intron;ESP6500_GL=GADL1;ESP6500_GRCh38_POSITION=3:30861812;ESP6500_GTC=65,655,1563;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_207359.2:c.38-47G>A;ESP6500_MAF=16.3105,19.2197,17.1923;ESP6500_TAC=785,3781	GT:AD:DP:GQ:PL	0/1:14,10:24:99:323,0,409
chr3	31453501	rs9824199	C	T	980.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.69;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9824199;dbSNPBuildID=119;ANN=T|intergenic_region|MODIFIER|MIR466-STT3B|MIR466-STT3B|intergenic_region|MIR466-STT3B|||n.31453501C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2304;p3_1000G_AF=0.460064;p3_1000G_AFR_AF=0.5545;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=18579;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.2853;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31494993;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3691;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,30:30:89:1009,89,0
chr3	31622023	rs10662891;rs71097434	A	AGTGTG	630.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.18;SOR=3.126;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs71097434,rs10662891;dbSNPBuildID=132,130;ANN=AGTGTG|intron_variant|MODIFIER|STT3B|STT3B|transcript|NM_178862.2|protein_coding|9/15|c.1328-72_1328-71insGTGGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=4999;p3_1000G_AF=0.998203;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=17626;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.993;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31663515;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,15:15:45:668,45,0
chr3	31635903	rs11129457	T	G	187.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11129457;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|STT3B|STT3B|transcript|NM_178862.2|protein_coding|15/15|c.2401-81T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4634;p3_1000G_AF=0.925319;p3_1000G_AFR_AF=0.8396;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=20271;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.9573;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31677395;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9264;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:216,15,0
chr3	31661972	rs11058	T	C	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.98;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.97;ReadPosRankSum=0.366;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11058;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|12/12|c.*100A>G|||||100|,C|3_prime_UTR_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|11/11|c.*100A>G|||||100|;p3_1000G_AA=T|||;p3_1000G_AC=1092;p3_1000G_AF=0.218051;p3_1000G_AFR_AF=0.1664;p3_1000G_AMR_AF=0.281;p3_1000G_AN=5008;p3_1000G_DP=19098;p3_1000G_EAS_AF=0.2946;p3_1000G_EUR_AF=0.2068;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31703464;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,2:7:63:63,0,127
chr3	31670901	rs3749405	C	T	206.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.996;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=-1.818;SOR=0.767;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3749405;dbSNPBuildID=107;ANN=T|synonymous_variant|LOW|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|9/12|c.1809G>A|p.Pro603Pro|2480/4213|1809/2295|603/764||,T|synonymous_variant|LOW|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|8/11|c.1617G>A|p.Pro539Pro|2288/4021|1617/2103|539/700||;p3_1000G_AA=T|||;p3_1000G_AC=2832;p3_1000G_AF=0.565495;p3_1000G_AFR_AF=0.854;p3_1000G_AMR_AF=0.4107;p3_1000G_AN=5008;p3_1000G_DP=20776;p3_1000G_EAS_AF=0.6756;p3_1000G_EUR_AF=0.3728;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31712393;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3701;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3339,1067;ESP6500_AA_AGE=389.1+/-327.2;ESP6500_AA_GTC=1266,807,130;ESP6500_CDS_SIZES=NM_017784.4:2295,NM_001174060.1:2103;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=123;ESP6500_EA_AC=3086,5514;ESP6500_EA_AGE=659.5+/-401.7;ESP6500_EA_GTC=533,2020,1747;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017784.4:coding-synonymous,NM_001174060.1:coding-synonymous;ESP6500_GL=OSBPL10;ESP6500_GRCh38_POSITION=3:31670901;ESP6500_GTC=1799,2827,1877;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017784.4:c.1809G>A,NM_001174060.1:c.1617G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017784.4:p.(P603),NM_001174060.1:p.(P539);ESP6500_MAF=35.8837,24.217,49.4003;ESP6500_TAC=6425,6581	GT:AD:DP:GQ:PL	0/1:41,15:56:99:235,0,1033
chr3	31683749	rs141090004	T	A	2234.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.53;ClippingRankSum=0;DP=163;ExcessHet=3.0103;FS=9.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.31;SOR=0.349;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs141090004;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|8/12|c.1611A>T|p.Pro537Pro|2282/4213|1611/2295|537/764||,A|synonymous_variant|LOW|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|7/11|c.1419A>T|p.Pro473Pro|2090/4021|1419/2103|473/700||;p3_1000G_AA=T|||;p3_1000G_AC=13;p3_1000G_AF=0.00259585;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19934;p3_1000G_EAS_AF=0.0129;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31725241;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:80,83:163:99:2263,0,2016
chr3	31684199	rs2278960	T	C	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.363;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=2.884;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-0.765;SOR=0.204;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278960;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|7/11|c.1246-85A>G||||||,C|intron_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|6/10|c.1054-85A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3283;p3_1000G_AF=0.655551;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.4798;p3_1000G_AN=5008;p3_1000G_DP=21273;p3_1000G_EAS_AF=0.7004;p3_1000G_EUR_AF=0.507;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31725691;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,11:17:99:344,0,169
chr3	31748090	rs2290532	T	C	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.94;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.321;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290532;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|5/12|c.760A>G|p.Asn254Asp|1431/4213|760/2295|254/764||,C|missense_variant|MODERATE|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|4/11|c.568A>G|p.Asn190Asp|1239/4021|568/2103|190/700||;p3_1000G_AA=T|||;p3_1000G_AC=2141;p3_1000G_AF=0.427516;p3_1000G_AFR_AF=0.0461;p3_1000G_AMR_AF=0.5576;p3_1000G_AN=5008;p3_1000G_DP=17939;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.4404;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31789582;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5153;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=511,3895;ESP6500_AA_AGE=235.5+/-248.0;ESP6500_AA_GTC=30,451,1722;ESP6500_CDS_SIZES=NM_017784.4:2295,NM_001174060.1:2103;ESP6500_CG=4.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=57;ESP6500_EA_AC=3774,4826;ESP6500_EA_AGE=531.3+/-382.0;ESP6500_EA_GTC=825,2124,1351;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017784.4:missense,NM_001174060.1:missense;ESP6500_GL=OSBPL10;ESP6500_GRCh38_POSITION=3:31748090;ESP6500_GS=23,23;ESP6500_GTC=855,2575,3073;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017784.4:c.760A>G,NM_001174060.1:c.568A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017784.4:p.(N254D),NM_001174060.1:p.(N190D);ESP6500_MAF=43.8837,11.5978,32.9463;ESP6500_PH=probably-damaging:0.992,probably-damaging:0.992;ESP6500_TAC=4285,8721	GT:AD:DP:GQ:PL	0/1:23,17:40:99:494,0,579
chr3	31797605	rs7628972	C	T	400.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.25;SOR=4.977;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7628972;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|4/11|c.729+32435G>A||||||,T|intron_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|3/10|c.538-49485G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3696;p3_1000G_AF=0.738019;p3_1000G_AFR_AF=0.6687;p3_1000G_AMR_AF=0.7493;p3_1000G_AN=5008;p3_1000G_DP=19046;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.7227;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31839097;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7556;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:429,33,0
chr3	31797643	rs7653447	A	G	698.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=3.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7653447;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|4/11|c.729+32397T>C||||||,G|intron_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|3/10|c.538-49523T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3051;p3_1000G_AF=0.609225;p3_1000G_AFR_AF=0.2882;p3_1000G_AMR_AF=0.7017;p3_1000G_AN=5008;p3_1000G_DP=19212;p3_1000G_EAS_AF=0.7986;p3_1000G_EUR_AF=0.6819;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31839135;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:727,63,0
chr3	31797750	rs7643025	T	C	1651.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=1.061;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7643025;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|4/11|c.729+32290A>G||||||,C|intron_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|3/10|c.538-49630A>G||||||;p3_1000G_AA=t|||;p3_1000G_AC=4017;p3_1000G_AF=0.802117;p3_1000G_AFR_AF=0.8759;p3_1000G_AMR_AF=0.7723;p3_1000G_AN=5008;p3_1000G_DP=18928;p3_1000G_EAS_AF=0.8204;p3_1000G_EUR_AF=0.7495;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=31839242;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7587;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1680,164,0
chr3	31981188	rs76150980	G	C	45.98	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.319;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.319;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76150980;dbSNPBuildID=131;ANN=C|5_prime_UTR_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_017784.4|protein_coding|1/12|c.-9C>G|||||9|,C|5_prime_UTR_variant|MODIFIER|OSBPL10|OSBPL10|transcript|NM_001174060.1|protein_coding|1/11|c.-9C>G|||||9|,C|upstream_gene_variant|MODIFIER|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding||c.-7892G>C|||||586|;p3_1000G_AA=C|||;p3_1000G_AC=837;p3_1000G_AF=0.167133;p3_1000G_AFR_AF=0.0159;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=8957;p3_1000G_EAS_AF=0.4603;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32022680;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1871;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=48,1680;ESP6500_AA_GTC=0,48,816;ESP6500_CDS_SIZES=NM_017784.4:2295,NM_001174060.1:2103;ESP6500_CG=2.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=2;ESP6500_EA_AC=158,3402;ESP6500_EA_GTC=1,156,1623;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017784.4:utr-5,NM_001174060.1:utr-5;ESP6500_GL=OSBPL10;ESP6500_GRCh38_POSITION=3:31981188;ESP6500_GTC=1,204,2439;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017784.4:c.-9C>G,NM_001174060.1:c.-9C>G;ESP6500_MAF=4.4382,2.7778,3.8956;ESP6500_TAC=206,5082	GT:AD:DP:GQ:PL	0/1:1,3:4:13:74,0,13
chr3	31989052	rs11129475	C	T	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.347;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=3.282;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.814;SOR=0.297;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11129475;dbSNPBuildID=120;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.-28C>T||||||,T|5_prime_UTR_variant|MODIFIER|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.-28C>T|||||28|;p3_1000G_AA=C|||;p3_1000G_AC=1946;p3_1000G_AF=0.388578;p3_1000G_AFR_AF=0.6596;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=22766;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.1839;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32030544;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3579;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=734,650;ESP6500_AA_GTC=202,330,160;ESP6500_CDS_SIZES=NM_001137674.2:1899;ESP6500_CG=-0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=15;ESP6500_EA_AC=575,2607;ESP6500_EA_GTC=54,467,1070;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001137674.2:utr-5;ESP6500_GL=ZNF860;ESP6500_GRCh38_POSITION=3:31989052;ESP6500_GTC=256,797,1230;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001137674.2:c.-28C>T;ESP6500_MAF=18.0704,46.9653,28.6684;ESP6500_TAC=1309,3257	GT:AD:DP:GQ:PL	0/1:20,16:36:99:446,0,610
chr3	31989532	rs4449357	C	T	1365.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.559;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.313;SOR=0.73;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4449357;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.453C>T|p.Ile151Ile|1002/3206|453/1899|151/632||;p3_1000G_AA=T|||;p3_1000G_AC=2149;p3_1000G_AF=0.429113;p3_1000G_AFR_AF=0.7912;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=20480;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32031024;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=922,462;ESP6500_AA_GTC=315,292,85;ESP6500_CDS_SIZES=NM_001137674.2:1899;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=54;ESP6500_EA_AC=608,2574;ESP6500_EA_GTC=58,492,1041;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001137674.2:coding-synonymous;ESP6500_GL=ZNF860;ESP6500_GRCh38_POSITION=3:31989532;ESP6500_GTC=373,784,1126;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001137674.2:c.453C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001137674.2:p.(I151);ESP6500_MAF=19.1075,33.3815,33.5085;ESP6500_TAC=1530,3036	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1394,0,1106
chr3	31989643	rs6419811	A	G	1500.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.58;ClippingRankSum=0;DP=93;ExcessHet=3.0103;FS=6.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.873;SOR=1.149;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6419811;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.564A>G|p.Ser188Ser|1113/3206|564/1899|188/632||;p3_1000G_AA=G|||;p3_1000G_AC=2356;p3_1000G_AF=0.470447;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=20726;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32031135;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=938,446;ESP6500_AA_GTC=325,288,79;ESP6500_CDS_SIZES=NM_001137674.2:1899;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=48;ESP6500_EA_AC=608,2574;ESP6500_EA_GTC=58,492,1041;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001137674.2:coding-synonymous;ESP6500_GL=ZNF860;ESP6500_GRCh38_POSITION=3:31989643;ESP6500_GTC=383,780,1120;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001137674.2:c.564A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001137674.2:p.(S188);ESP6500_MAF=19.1075,32.2254,33.859;ESP6500_TAC=1546,3020	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1529,0,1061
chr3	31990123	rs13064905	A	C	1760.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=2.14;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.52;ReadPosRankSum=-0.063;SOR=0.408;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13064905;dbSNPBuildID=121;ANN=C|missense_variant|MODERATE|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.1044A>C|p.Glu348Asp|1593/3206|1044/1899|348/632||;p3_1000G_AA=C|||;p3_1000G_AC=2356;p3_1000G_AF=0.470447;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=21648;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32031615;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,45:69:99:0|1:31990123_A_C:1789,0,2035
chr3	31990130	rs13087612	T	C	1779.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.36;ClippingRankSum=0;DP=70;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.43;ReadPosRankSum=-0.137;SOR=0.586;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13087612;dbSNPBuildID=121;ANN=C|missense_variant|MODERATE|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.1051T>C|p.Phe351Leu|1600/3206|1051/1899|351/632||;p3_1000G_AA=T|||;p3_1000G_AC=2329;p3_1000G_AF=0.465056;p3_1000G_AFR_AF=0.7799;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=21477;p3_1000G_EAS_AF=0.4524;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32031622;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=897,487;ESP6500_AA_GTC=298,301,93;ESP6500_CDS_SIZES=NM_001137674.2:1899;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=49;ESP6500_EA_AC=608,2574;ESP6500_EA_GTC=57,494,1040;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001137674.2:missense;ESP6500_GL=ZNF860;ESP6500_GRCh38_POSITION=3:31990130;ESP6500_GS=22;ESP6500_GTC=355,795,1133;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001137674.2:c.1051T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001137674.2:p.(F351L);ESP6500_MAF=19.1075,35.1879,32.961;ESP6500_PH=probably-damaging:0.993;ESP6500_TAC=1505,3061	GT:AD:DP:GQ:PGT:PID:PL	0/1:26,44:70:99:0|1:31990123_A_C:1808,0,2159
chr3	31990151	rs13065048	A	G	1584.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.384;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.01;ReadPosRankSum=-0.189;SOR=0.66;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13065048;dbSNPBuildID=121;ANN=G|missense_variant|MODERATE|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.1072A>G|p.Thr358Ala|1621/3206|1072/1899|358/632||;p3_1000G_AA=a|||;p3_1000G_AC=2357;p3_1000G_AF=0.470647;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=21395;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.1968;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32031643;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4049;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=933,451;ESP6500_AA_GTC=325,283,84;ESP6500_CDS_SIZES=NM_001137674.2:1899;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=49;ESP6500_EA_AC=608,2574;ESP6500_EA_GTC=57,494,1040;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001137674.2:missense;ESP6500_GL=ZNF860;ESP6500_GRCh38_POSITION=3:31990151;ESP6500_GS=58;ESP6500_GTC=382,777,1124;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001137674.2:c.1072A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001137674.2:p.(T358A);ESP6500_MAF=19.1075,32.5867,33.7495;ESP6500_PH=benign:0.0;ESP6500_TAC=1541,3025	GT:AD:DP:GQ:PGT:PID:PL	0/1:30,42:72:99:0|1:31990123_A_C:1613,0,2175
chr3	31990470	rs1808125	A	G	3068.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=91;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.76;QD=33.72;SOR=0.807;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1808125;dbSNPBuildID=92;ANN=G|missense_variant|MODERATE|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.1391A>G|p.His464Arg|1940/3206|1391/1899|464/632||;p3_1000G_AA=a|||;p3_1000G_AC=3114;p3_1000G_AF=0.621805;p3_1000G_AFR_AF=0.9054;p3_1000G_AMR_AF=0.4813;p3_1000G_AN=5008;p3_1000G_DP=19471;p3_1000G_EAS_AF=0.7599;p3_1000G_EUR_AF=0.2773;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32031962;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5501;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,91:91:99:3097,273,0
chr3	31990905	rs4955216	G	T	714.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.67;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=5.934;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.917;SOR=1.055;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4955216;dbSNPBuildID=116;ANN=T|missense_variant|MODERATE|ZNF860|ZNF860|transcript|NM_001137674.2|protein_coding|2/2|c.1826G>T|p.Arg609Leu|2375/3206|1826/1899|609/632||;p3_1000G_AA=T|||;p3_1000G_AC=2157;p3_1000G_AF=0.430711;p3_1000G_AFR_AF=0.7988;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=22192;p3_1000G_EAS_AF=0.3006;p3_1000G_EUR_AF=0.1928;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32032397;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=935,449;ESP6500_AA_GTC=322,291,79;ESP6500_CDS_SIZES=NM_001137674.2:1899;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=38;ESP6500_EA_AC=610,2572;ESP6500_EA_GTC=58,494,1039;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001137674.2:missense;ESP6500_GL=ZNF860;ESP6500_GRCh38_POSITION=3:31990905;ESP6500_GS=102;ESP6500_GTC=380,785,1118;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001137674.2:c.1826G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001137674.2:p.(R609L);ESP6500_MAF=19.1703,32.4422,33.8371;ESP6500_PH=benign:0.0;ESP6500_TAC=1545,3021	GT:AD:DP:GQ:PL	0/1:50,30:80:99:743,0,1238
chr3	32146514	rs9839702	G	A	334.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9839702;dbSNPBuildID=119;ANN=A|intron_variant|MODIFIER|GPD1L|GPD1L|transcript|NM_015141.3|protein_coding|4/7|c.506-108G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2340;p3_1000G_AF=0.467252;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.3905;p3_1000G_AN=5008;p3_1000G_DP=20181;p3_1000G_EAS_AF=0.4911;p3_1000G_EUR_AF=0.341;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32188006;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,10:10:30:363,30,0
chr3	32158741	rs2305362	G	A	227.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305362;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|GPD1L|GPD1L|transcript|NM_015141.3|protein_coding|5/7|c.619-135G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=3352;p3_1000G_AF=0.669329;p3_1000G_AFR_AF=0.8071;p3_1000G_AMR_AF=0.5634;p3_1000G_AN=5008;p3_1000G_DP=15843;p3_1000G_EAS_AF=0.8829;p3_1000G_EUR_AF=0.4284;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32200233;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5859;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:256,21,0
chr3	32158830	rs2305361	T	C	795.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.6;SOR=2.03;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2305361;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|GPD1L|GPD1L|transcript|NM_015141.3|protein_coding|5/7|c.619-46T>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=2401;p3_1000G_AF=0.479433;p3_1000G_AFR_AF=0.6036;p3_1000G_AMR_AF=0.3617;p3_1000G_AN=5008;p3_1000G_DP=16860;p3_1000G_EAS_AF=0.6022;p3_1000G_EUR_AF=0.3091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32200322;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4438;p3_1000G_VT=SNP;ESP6500_AA_AC=2354,2050;ESP6500_AA_GTC=650,1054,498;ESP6500_CDS_SIZES=NM_015141.3:1056;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=17;ESP6500_EA_AC=2634,5960;ESP6500_EA_GTC=396,1842,2059;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015141.3:intron;ESP6500_GL=GPD1L;ESP6500_GRCh38_POSITION=3:32158830;ESP6500_GTC=1046,2896,2557;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015141.3:c.619-46T>C;ESP6500_MAF=30.6493,46.5486,38.3751;ESP6500_TAC=4988,8010	GT:AD:DP:GQ:PL	1/1:0,23:23:69:824,69,0
chr3	32392093	rs3732845	G	C	264.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.153;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-1.853;SOR=0.883;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732845;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|CMTM7|CMTM7|transcript|NM_138410.3|protein_coding|1/4|c.159+28G>C||||||,C|intron_variant|MODIFIER|CMTM7|CMTM7|transcript|NM_181472.2|protein_coding|1/3|c.159+28G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=423;p3_1000G_AF=0.0844649;p3_1000G_AFR_AF=0.0393;p3_1000G_AMR_AF=0.134;p3_1000G_AN=5008;p3_1000G_DP=9711;p3_1000G_EAS_AF=0.1141;p3_1000G_EUR_AF=0.0845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32433585;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=85,2933;ESP6500_AA_GTC=0,85,1424;ESP6500_CDS_SIZES=NM_181472.1:429,NM_138410.2:528;ESP6500_CG=2.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=2;ESP6500_EA_AC=269,5987;ESP6500_EA_GTC=1,267,2860;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_181472.1:intron,NM_138410.2:intron;ESP6500_GL=CMTM7;ESP6500_GRCh38_POSITION=3:32392093;ESP6500_GTC=1,352,4284;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_181472.1:c.159+28G>C,NM_138410.2:c.159+28G>C;ESP6500_MAF=4.2999,2.8164,3.8171;ESP6500_TAC=354,8920	GT:AD:DP:GQ:PL	0/1:7,12:19:99:293,0,202
chr3	32392245	rs145185011;rs554616367	G	GCCCCCGCGCTGGAGCTCAGT	82.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.036;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.524;SOR=0.223;INS;HET;VARTYPE=INS;dbSNP138_ID=rs145185011;dbSNPBuildID=134,142;ANN=GCCCCCGCGCTGGAGCTCAGT|intron_variant|MODIFIER|CMTM7|CMTM7|transcript|NM_138410.3|protein_coding|1/4|c.159+185_159+204dupCGCGCTGGAGCTCAGTCCCC||||||INFO_REALIGN_3_PRIME,GCCCCCGCGCTGGAGCTCAGT|intron_variant|MODIFIER|CMTM7|CMTM7|transcript|NM_181472.2|protein_coding|1/3|c.159+185_159+204dupCGCGCTGGAGCTCAGTCCCC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,3:5:99:120,0,405
chr3	32452190	rs342745	A	G	580.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.26;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs342745;dbSNPBuildID=79;ANN=G|intron_variant|MODIFIER|CMTM7|CMTM7|transcript|NM_138410.3|protein_coding|3/4|c.433-202A>G||||||,G|intron_variant|MODIFIER|CMTM7|CMTM7|transcript|NM_181472.2|protein_coding|2/3|c.334-202A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3614;p3_1000G_AF=0.721645;p3_1000G_AFR_AF=0.7315;p3_1000G_AMR_AF=0.745;p3_1000G_AN=5008;p3_1000G_DP=15366;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.8131;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32493682;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7699;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:609,54,0
chr3	32530331	rs35467710;rs549502785;rs71630522	GA	G	129.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.868;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=-0.424;SOR=0.385;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs35467710,rs71630522;dbSNPBuildID=126,142,130;ANN=G|splice_region_variant&intron_variant|LOW|DYNC1LI1|DYNC1LI1|transcript|NM_016141.3|protein_coding|9/12|c.1141-4delT||||||,G|splice_region_variant&intron_variant|LOW|DYNC1LI1|DYNC1LI1|transcript|NM_001329135.1|protein_coding|7/10|c.793-4delT||||||	GT:AD:DP:GQ:PL	0/1:18,11:29:99:167,0,317
chr3	32537013	rs2303857	T	C	383.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.052;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=2.928;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.423;SOR=0.531;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2303857;dbSNPBuildID=100;ANN=C|missense_variant&splice_region_variant|MODERATE|DYNC1LI1|DYNC1LI1|transcript|NM_016141.3|protein_coding|6/13|c.830A>G|p.Gln277Arg|934/2504|830/1572|277/523||,C|missense_variant&splice_region_variant|MODERATE|DYNC1LI1|DYNC1LI1|transcript|NM_001329135.1|protein_coding|4/11|c.482A>G|p.Gln161Arg|636/2206|482/1224|161/407||;p3_1000G_AA=T|||;p3_1000G_AC=264;p3_1000G_AF=0.0527157;p3_1000G_AFR_AF=0.0393;p3_1000G_AMR_AF=0.0605;p3_1000G_AN=5008;p3_1000G_DP=15272;p3_1000G_EAS_AF=0.0536;p3_1000G_EUR_AF=0.0984;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32578505;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0174;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=216,4186;ESP6500_AA_AGE=130.6+/-167.2;ESP6500_AA_GTC=4,208,1989;ESP6500_CDS_SIZES=NM_016141.3:1572;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=78;ESP6500_EA_AC=661,7911;ESP6500_EA_AGE=166.4+/-218.3;ESP6500_EA_GTC=26,609,3651;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_016141.3:missense;ESP6500_GL=DYNC1LI1;ESP6500_GRCh38_POSITION=3:32537013;ESP6500_GS=43;ESP6500_GTC=30,817,5640;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_016141.3:c.830A>G;ESP6500_HGVS_PROTEIN_VAR=NM_016141.3:p.(Q277R);ESP6500_MAF=7.7112,4.9069,6.7597;ESP6500_PH=probably-damaging:0.994;ESP6500_TAC=877,12097	GT:AD:DP:GQ:PL	0/1:15,19:34:99:412,0,302
chr3	32719989	rs13092303	A	G	64.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.43;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13092303;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256742.1|protein_coding|7/18|c.925-125A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256741.1|protein_coding|7/17|c.745-125A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_015442.2|protein_coding|7/18|c.745-125A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NR_046352.1|pseudogene|6/16|n.899-125A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4946;p3_1000G_AF=0.98762;p3_1000G_AFR_AF=0.9637;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=15246;p3_1000G_EAS_AF=0.9891;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32761481;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:92,9,0
chr3	32720257	rs60731094;rs796723395	CT	C	143.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.723;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.277;SOR=0.061;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs60731094;dbSNPBuildID=134,146;ANN=C|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256742.1|protein_coding|8/18|c.1042+34delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256741.1|protein_coding|8/17|c.862+34delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_015442.2|protein_coding|8/18|c.862+34delT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NR_046352.1|pseudogene|7/16|n.1016+34delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTTTTTT|TTTTTTTT|TTTTTTT|deletion;p3_1000G_AC=758;p3_1000G_AF=0.151358;p3_1000G_AFR_AF=0.1271;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=13415;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.1431;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32761749;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2106;p3_1000G_VT=INDEL;ESP6500_AA_AC=528,3730;ESP6500_AA_GTC=38,452,1639;ESP6500_CDS_SIZES=NM_015442.2:2235,NM_001256742.1:2415,NM_001256741.1:2154;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=35;ESP6500_EA_AC=1316,6932;ESP6500_EA_GTC=107,1102,2915;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015442.2:intron,NM_001256742.1:intron,NM_001256741.1:intron;ESP6500_GL=CNOT10;ESP6500_GRCh38_POSITION=3:32720257;ESP6500_GTC=145,1554,4554;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_015442.2:c.862+27del1,NM_001256742.1:c.1042+27del1,NM_001256741.1:c.862+27del1;ESP6500_MAF=15.9554,12.4002,14.7449;ESP6500_TAC=1844,10662	GT:AD:DP:GQ:PL	0/1:4,7:11:89:181,0,89
chr3	32725413	rs6550155	A	G	567.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.822;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=-0.308;SOR=0.525;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6550155;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256742.1|protein_coding|8/18|c.1043-37A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256741.1|protein_coding|8/17|c.863-37A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_015442.2|protein_coding|8/18|c.863-37A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NR_046352.1|pseudogene|7/16|n.1017-37A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1506;p3_1000G_AF=0.300719;p3_1000G_AFR_AF=0.4138;p3_1000G_AMR_AF=0.2781;p3_1000G_AN=5008;p3_1000G_DP=17336;p3_1000G_EAS_AF=0.2669;p3_1000G_EUR_AF=0.2127;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32766905;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2894;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1688,2718;ESP6500_AA_AGE=494.1+/-362.9;ESP6500_AA_GTC=315,1058,830;ESP6500_CDS_SIZES=NM_015442.2:2235,NM_001256742.1:2415,NM_001256741.1:2154;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=2008,6592;ESP6500_EA_AGE=340.7+/-323.7;ESP6500_EA_GTC=224,1560,2516;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015442.2:intron,NM_001256742.1:intron,NM_001256741.1:intron;ESP6500_GL=CNOT10;ESP6500_GRCh38_POSITION=3:32725413;ESP6500_GTC=539,2618,3346;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015442.2:c.863-37A>G,NM_001256742.1:c.1043-37A>G,NM_001256741.1:c.863-37A>G;ESP6500_MAF=23.3488,38.3114,28.4177;ESP6500_TAC=3696,9310	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,21:34:99:0|1:32725413_A_G:596,0,357
chr3	32734740	rs55889827	A	G	249.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.81;ReadPosRankSum=-0.605;SOR=1.426;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs55889827;dbSNPBuildID=129;ANN=G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256742.1|protein_coding|11/18|c.1518-60A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256741.1|protein_coding|11/17|c.1338-60A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_015442.2|protein_coding|11/18|c.1338-60A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NR_046352.1|pseudogene|10/16|n.1492-60A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=714;p3_1000G_AF=0.142572;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.1023;p3_1000G_AN=5008;p3_1000G_DP=18168;p3_1000G_EAS_AF=0.1677;p3_1000G_EUR_AF=0.1412;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32776232;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2096;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,9:12:50:278,0,50
chr3	32759681	rs9832822	A	G	297.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.39;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.532;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9832822;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256742.1|protein_coding|14/18|c.1889+110A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_001256741.1|protein_coding|13/17|c.1628+110A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NM_015442.2|protein_coding|14/18|c.1709+110A>G||||||,G|intron_variant|MODIFIER|CNOT10|CNOT10|transcript|NR_046352.1|pseudogene|12/16|n.1782+110A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1597;p3_1000G_AF=0.31889;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=19654;p3_1000G_EAS_AF=0.2698;p3_1000G_EUR_AF=0.2147;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32801173;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2883;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:326,0,312
chr3	32873722	rs6799979	C	G	1067.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=29;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.86;SOR=2.226;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6799979;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|TRIM71|TRIM71|transcript|NM_001039111.2|protein_coding|1/3|c.853-96C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4959;p3_1000G_AF=0.990216;p3_1000G_AFR_AF=0.9644;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=20859;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32915214;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1096,87,0
chr3	32885908	rs36019845	G	A	174.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.264;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=5.36;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=-0.404;SOR=1.802;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs36019845;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|TRIM71|TRIM71|transcript|NM_001039111.2|protein_coding|2/3|c.1021-26G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=691;p3_1000G_AF=0.137979;p3_1000G_AFR_AF=0.0953;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=21441;p3_1000G_EAS_AF=0.2798;p3_1000G_EUR_AF=0.0845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32927400;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1452;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=312,3728;ESP6500_AA_GTC=23,266,1731;ESP6500_CDS_SIZES=NM_001039111.1:2607;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=70;ESP6500_EA_AC=823,7537;ESP6500_EA_GTC=38,747,3395;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039111.1:intron;ESP6500_GL=TRIM71;ESP6500_GRCh38_POSITION=3:32885908;ESP6500_GTC=61,1013,5126;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039111.1:c.1021-26G>A;ESP6500_MAF=9.8445,7.7228,9.1532;ESP6500_TAC=1135,11265	GT:AD:DP:GQ:PL	0/1:30,11:41:99:203,0,772
chr3	32886017	rs6774703	G	T	979.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=34;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.82;SOR=1.085;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6774703;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|TRIM71|TRIM71|transcript|NM_001039111.2|protein_coding|3/4|c.1104G>T|p.Thr368Thr|1167/8685|1104/2607|368/868||;p3_1000G_AA=T|||;p3_1000G_AC=4961;p3_1000G_AF=0.990615;p3_1000G_AFR_AF=0.966;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18183;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32927509;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4228,84;ESP6500_AA_GTC=2075,78,3;ESP6500_CDS_SIZES=NM_001039111.1:2607;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=95;ESP6500_EA_AC=8496,0;ESP6500_EA_GTC=4248,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039111.1:coding-synonymous;ESP6500_GL=TRIM71;ESP6500_GRCh38_POSITION=3:32886017;ESP6500_GTC=6323,78,3;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039111.1:c.1104G>T;ESP6500_HGVS_PROTEIN_VAR=NM_001039111.1:p.(T368);ESP6500_MAF=0.0,1.9481,0.6558;ESP6500_TAC=12724,84	GT:AD:DP:GQ:PL	1/1:0,34:34:99:1008,102,0
chr3	32891544	rs13096271	G	A	705.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.927;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.884;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13096271;dbSNPBuildID=121;ANN=A|synonymous_variant|LOW|TRIM71|TRIM71|transcript|NM_001039111.2|protein_coding|4/4|c.2340G>A|p.Ser780Ser|2403/8685|2340/2607|780/868||;p3_1000G_AA=G|||;p3_1000G_AC=719;p3_1000G_AF=0.14357;p3_1000G_AFR_AF=0.1044;p3_1000G_AMR_AF=0.0836;p3_1000G_AN=5008;p3_1000G_DP=18483;p3_1000G_EAS_AF=0.2907;p3_1000G_EUR_AF=0.0855;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=32933036;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1472;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=352,3574;ESP6500_AA_GTC=27,298,1638;ESP6500_CDS_SIZES=NM_001039111.1:2607;ESP6500_CG=-11.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=41;ESP6500_EA_AC=815,7499;ESP6500_EA_GTC=39,737,3381;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001039111.1:coding-synonymous;ESP6500_GL=TRIM71;ESP6500_GRCh38_POSITION=3:32891544;ESP6500_GTC=66,1035,5019;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001039111.1:c.2340G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001039111.1:p.(S780);ESP6500_MAF=9.8027,8.9659,9.5343;ESP6500_TAC=1167,11073	GT:AD:DP:GQ:PL	0/1:31,26:57:99:734,0,948
chr3	32891852	rs10630076	G	GTC	214.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-2.011;SOR=0.551;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10630076;dbSNPBuildID=135;ANN=GTC|3_prime_UTR_variant|MODIFIER|TRIM71|TRIM71|transcript|NM_001039111.2|protein_coding|4/4|c.*61_*62dupCT|||||63|INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:16,10:26:99:252,0,488
chr3	32997255	rs77226678;92902	C	G	1207.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.05;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.841;SOR=0.793;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77226678;dbSNPBuildID=131;ANN=G|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|17/17|c.1968G>C|p.Leu656Leu|2113/2760|1968/2178|656/725||,G|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|16/16|c.1734G>C|p.Leu578Leu|1863/2510|1734/1944|578/647||,G|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_000404.3|protein_coding|16/16|c.1824G>C|p.Leu608Leu|1969/2616|1824/2034|608/677||,G|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|13/13|c.1431G>C|p.Leu477Leu|1576/2223|1431/1641|477/546||;p3_1000G_AA=C|||;p3_1000G_AC=548;p3_1000G_AF=0.109425;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=18304;p3_1000G_EAS_AF=0.4484;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33038747;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.091;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=20,3950;ESP6500_AA_GTC=0,20,1965;ESP6500_CDS_SIZES=NM_001135602.1:1641,NM_001079811.1:1944,NM_000404.2:2034;ESP6500_CG=2.3;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=78;ESP6500_EA_AC=21,8287;ESP6500_EA_GTC=0,21,4133;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001135602.1:coding-synonymous,NM_001079811.1:coding-synonymous,NM_000404.2:coding-synonymous;ESP6500_GL=GLB1;ESP6500_GRCh38_POSITION=3:32997255;ESP6500_GTC=0,41,6098;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001135602.1:c.1431G>C,NM_001079811.1:c.1734G>C,NM_000404.2:c.1824G>C;ESP6500_HGVS_PROTEIN_VAR=NM_001135602.1:p.(L477),NM_001079811.1:p.(L578),NM_000404.2:p.(L608);ESP6500_MAF=0.2528,0.5038,0.3339;ESP6500_TAC=41,12237;CLINVAR_AF_ESP=0.0033;CLINVAR_AF_EXAC=0.04628;CLINVAR_AF_TGP=0.1094;CLINVAR_ALLELEID=98809;CLINVAR_CLNDISDB=MedGen:C0026707,Orphanet:ORPHA582,SNOMED_CT:378007|MedGen:C0085131,Orphanet:ORPHA354|MedGen:CN169374;CLINVAR_CLNDN=Morquio_syndrome|GM1_gangliosidosis|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.32997255C>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:83126;CLINVAR_GENEINFO=GLB1:2720;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=77226678	GT:AD:DP:GQ:PL	0/1:26,40:66:99:1236,0,667
chr3	33014229	rs4302331;167145	A	G	1207.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=2.368;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4302331;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|16/17|c.1705T>C|p.Cys569Arg|1850/2760|1705/2178|569/725||,G|missense_variant|MODERATE|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|15/16|c.1471T>C|p.Cys491Arg|1600/2510|1471/1944|491/647||,G|missense_variant|MODERATE|GLB1|GLB1|transcript|NM_000404.3|protein_coding|15/16|c.1561T>C|p.Cys521Arg|1706/2616|1561/2034|521/677||,G|missense_variant|MODERATE|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|12/13|c.1168T>C|p.Cys390Arg|1313/2223|1168/1641|390/546||;p3_1000G_AA=G|||;p3_1000G_AC=4643;p3_1000G_AF=0.927117;p3_1000G_AFR_AF=0.7413;p3_1000G_AMR_AF=0.9697;p3_1000G_AN=5008;p3_1000G_DP=17880;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33055721;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3216,816;ESP6500_AA_GTC=1278,660,78;ESP6500_CDS_SIZES=NM_001135602.1:1641,NM_001079811.1:1944,NM_000404.2:2034;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=76;ESP6500_EA_AC=8289,15;ESP6500_EA_GTC=4138,13,1;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001135602.1:missense,NM_001079811.1:missense,NM_000404.2:missense;ESP6500_GL=GLB1;ESP6500_GRCh38_POSITION=3:33014229;ESP6500_GS=180,180,180;ESP6500_GTC=5416,673,79;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001135602.1:c.1168T>C,NM_001079811.1:c.1471T>C,NM_000404.2:c.1561T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001135602.1:p.(C390R),NM_001079811.1:p.(C491R),NM_000404.2:p.(C521R);ESP6500_MAF=0.1806,20.2381,6.7364;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=11505,831;CLINVAR_ALLELEID=177749;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.33014229A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=HGMD:CM051080;CLINVAR_GENEINFO=GLB1:2720;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4302331	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1236,105,0
chr3	33046350	rs35000357	C	G	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.26;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.623;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35000357;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|10/16|c.1100-118G>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|9/15|c.866-118G>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|9/15|c.956-118G>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|6/12|c.563-118G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1139;p3_1000G_AF=0.227436;p3_1000G_AFR_AF=0.1702;p3_1000G_AMR_AF=0.0749;p3_1000G_AN=5008;p3_1000G_DP=22179;p3_1000G_EAS_AF=0.4871;p3_1000G_EUR_AF=0.1292;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33087842;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2464;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:186,0,139
chr3	33051698	rs12632196	T	C	555.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.74;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12632196;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|10/16|c.1099+60A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|9/15|c.865+60A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|9/15|c.955+60A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|6/12|c.562+60A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3907;p3_1000G_AF=0.780152;p3_1000G_AFR_AF=0.3533;p3_1000G_AMR_AF=0.8804;p3_1000G_AN=5008;p3_1000G_DP=19403;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8976;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33093190;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9387;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=611,773;ESP6500_AA_GTC=130,351,211;ESP6500_CDS_SIZES=NM_001135602.1:1641,NM_001079811.1:1944,NM_000404.2:2034;ESP6500_CG=-2.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=29;ESP6500_EA_AC=2788,394;ESP6500_EA_GTC=1218,352,21;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001135602.1:intron,NM_001079811.1:intron,NM_000404.2:intron;ESP6500_GL=GLB1;ESP6500_GRCh38_POSITION=3:33051698;ESP6500_GTC=1348,703,232;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001135602.1:c.562+60A>G,NM_001079811.1:c.865+60A>G,NM_000404.2:c.955+60A>G;ESP6500_MAF=12.3821,44.1474,25.5585;ESP6500_TAC=3399,1167	GT:AD:DP:GQ:PL	1/1:0,16:16:48:584,48,0
chr3	33052073	rs150255701	A	G	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=-1.248;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs150255701;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|8/16|c.937-69T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|7/15|c.703-69T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|7/15|c.793-69T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|4/12|c.400-69T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=43;p3_1000G_AF=0.00858626;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=19899;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33093565;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,7:11:99:224,0,117
chr3	33053481	rs79518579;92914	C	A	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.563;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.77;ReadPosRankSum=1.92;SOR=0.641;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79518579;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|8/16|c.936+10G>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|7/15|c.702+10G>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|7/15|c.792+10G>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|4/12|c.399+10G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=307;p3_1000G_AF=0.0613019;p3_1000G_AFR_AF=0.1082;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=20594;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0.0288;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33094973;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=426,3628;ESP6500_AA_GTC=22,382,1623;ESP6500_CDS_SIZES=NM_001135602.1:1641,NM_001079811.1:1944,NM_000404.2:2034;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=107;ESP6500_EA_AC=232,8164;ESP6500_EA_GTC=5,222,3971;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001135602.1:intron,NM_001079811.1:intron,NM_000404.2:intron;ESP6500_GL=GLB1;ESP6500_GRCh38_POSITION=3:33053481;ESP6500_GTC=27,604,5594;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001135602.1:c.399+10G>T,NM_001079811.1:c.702+10G>T,NM_000404.2:c.792+10G>T;ESP6500_MAF=2.7632,10.5081,5.2851;ESP6500_TAC=658,11792;CLINVAR_AF_ESP=0.0529;CLINVAR_AF_EXAC=0.04071;CLINVAR_AF_TGP=0.0613;CLINVAR_ALLELEID=98821;CLINVAR_CLNDISDB=MedGen:C0026707,Orphanet:ORPHA582,SNOMED_CT:378007|MedGen:C0085131,Orphanet:ORPHA354|MedGen:CN169374;CLINVAR_CLNDN=Morquio_syndrome|GM1_gangliosidosis|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.33053481C>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31897;CLINVAR_GENEINFO=GLB1:2720;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=79518579	GT:AD:DP:GQ:PL	0/1:31,14:45:99:288,0,841
chr3	33053527	rs142326197;256026	G	A	388.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.565;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.156;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-1.012;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs142326197;dbSNPBuildID=134;ANN=A|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|8/17|c.900C>T|p.Phe300Phe|1045/2760|900/2178|300/725||,A|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|7/16|c.666C>T|p.Phe222Phe|795/2510|666/1944|222/647||,A|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_000404.3|protein_coding|7/16|c.756C>T|p.Phe252Phe|901/2616|756/2034|252/677||,A|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|4/13|c.363C>T|p.Phe121Phe|508/2223|363/1641|121/546||;p3_1000G_AA=G|||;p3_1000G_AC=43;p3_1000G_AF=0.00858626;p3_1000G_AFR_AF=0.0144;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=21164;p3_1000G_EAS_AF=0.0218;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33095019;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=57,3911;ESP6500_AA_GTC=0,57,1927;ESP6500_CDS_SIZES=NM_001135602.1:1641,NM_001079811.1:1944,NM_000404.2:2034;ESP6500_CG=2.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=99;ESP6500_EA_AC=0,8334;ESP6500_EA_GTC=0,0,4167;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001135602.1:coding-synonymous,NM_001079811.1:coding-synonymous,NM_000404.2:coding-synonymous;ESP6500_GL=GLB1;ESP6500_GRCh38_POSITION=3:33053527;ESP6500_GTC=0,57,6094;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001135602.1:c.363C>T,NM_001079811.1:c.666C>T,NM_000404.2:c.756C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001135602.1:p.(F121),NM_001079811.1:p.(F222),NM_000404.2:p.(F252);ESP6500_MAF=0.0,1.4365,0.4633;ESP6500_TAC=57,12245;CLINVAR_AF_ESP=0.0046;CLINVAR_AF_EXAC=0.00242;CLINVAR_AF_TGP=0.0086;CLINVAR_ALLELEID=251095;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.33053527G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=GLB1:2720;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=142326197	GT:AD:DP:GQ:PL	0/1:25,21:46:99:417,0,665
chr3	33053629	rs75639377	C	T	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.047;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.191;SOR=0.375;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75639377;dbSNPBuildID=132;ANN=T|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|7/16|c.878-80G>A||||||,T|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|6/15|c.644-80G>A||||||,T|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|6/15|c.734-80G>A||||||,T|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|3/12|c.341-80G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=296;p3_1000G_AF=0.0591054;p3_1000G_AFR_AF=0.1014;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=19854;p3_1000G_EAS_AF=0.0754;p3_1000G_EUR_AF=0.0278;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33095121;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0389;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,11:22:99:266,0,318
chr3	33053648	rs72856120	C	A	211.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.4;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-1.299;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72856120;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|7/16|c.878-99G>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|6/15|c.644-99G>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|6/15|c.734-99G>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|3/12|c.341-99G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=895;p3_1000G_AF=0.178714;p3_1000G_AFR_AF=0.121;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=19196;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33095140;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,8:16:99:240,0,226
chr3	33053661	rs80059915	A	G	149.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.075;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.94;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80059915;dbSNPBuildID=132;ANN=G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|7/16|c.878-112T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|6/15|c.644-112T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|6/15|c.734-112T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|3/12|c.341-112T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=895;p3_1000G_AF=0.178714;p3_1000G_AFR_AF=0.121;p3_1000G_AMR_AF=0.0303;p3_1000G_AN=5008;p3_1000G_DP=18584;p3_1000G_EAS_AF=0.4921;p3_1000G_EUR_AF=0.0358;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33095153;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1861;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:178,0,199
chr3	33058011	rs77452319	T	C	223.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.03;ClippingRankSum=0;DP=32;ExcessHet=3.0103;FS=1.67;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=0.891;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs77452319;dbSNPBuildID=131;ANN=C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|7/16|c.877+78A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|6/15|c.643+78A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|6/15|c.733+78A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|3/12|c.341-4462A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=507;p3_1000G_AF=0.101238;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.0245;p3_1000G_AN=5008;p3_1000G_DP=21845;p3_1000G_EAS_AF=0.2748;p3_1000G_EUR_AF=0.0606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33099503;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,10:32:99:252,0,572
chr3	33058388	rs7637435	T	C	784.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.39;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7637435;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|6/16|c.697-119A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|5/15|c.463-119A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|5/15|c.553-119A>G||||||,C|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|3/12|c.341-4839A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4816;p3_1000G_AF=0.961661;p3_1000G_AFR_AF=0.8631;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=19433;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33099880;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:813,75,0
chr3	33065568	rs34204221;92909	A	G	315.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.67;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.585;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.55;SOR=0.321;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs34204221;dbSNPBuildID=126;ANN=G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|5/16|c.602-11T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|4/15|c.368-11T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|4/15|c.458-11T>C||||||,G|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|2/12|c.246-11T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=327;p3_1000G_AF=0.0652955;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.0562;p3_1000G_AN=5008;p3_1000G_DP=19324;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0.0964;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33107060;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0511;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=359,3483;ESP6500_AA_GTC=18,323,1580;ESP6500_CDS_SIZES=NM_001135602.1:1641,NM_001079811.1:1944,NM_000404.2:2034;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=36;ESP6500_EA_AC=890,7266;ESP6500_EA_GTC=41,808,3229;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001135602.1:intron,NM_001079811.1:intron,NM_000404.2:intron;ESP6500_GL=GLB1;ESP6500_GRCh38_POSITION=3:33065568;ESP6500_GTC=59,1131,4809;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001135602.1:c.246-11T>C,NM_001079811.1:c.368-11T>C,NM_000404.2:c.458-11T>C;ESP6500_MAF=10.9122,9.3441,10.4101;ESP6500_TAC=1249,10749;CLINVAR_AF_ESP=0.1041;CLINVAR_AF_EXAC=0.10895;CLINVAR_AF_TGP=0.0653;CLINVAR_ALLELEID=98816;CLINVAR_CLNDISDB=MedGen:C0026707,Orphanet:ORPHA582,SNOMED_CT:378007|MedGen:C0085131,Orphanet:ORPHA354|MedGen:CN169374;CLINVAR_CLNDN=Morquio_syndrome|GM1_gangliosidosis|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.33065568A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31786;CLINVAR_GENEINFO=GLB1:2720;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=34204221	GT:AD:DP:GQ:PL	0/1:17,12:29:99:344,0,502
chr3	33077139	rs9865342	G	A	220.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.444;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=4.31;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.793;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9865342;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|2/17|c.174C>T|p.His58His|319/2760|174/2178|58/725||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|1/15|c.-15-4426C>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|1/15|c.76-4426C>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|1/12|c.76-4426C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=879;p3_1000G_AF=0.175519;p3_1000G_AFR_AF=0.1256;p3_1000G_AMR_AF=0.0548;p3_1000G_AN=5008;p3_1000G_DP=18884;p3_1000G_EAS_AF=0.371;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33118631;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2086;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,12:23:99:249,0,315
chr3	33093659	rs61734781	G	A	1396.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.778;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0.878;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=0.023;SOR=0.518;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61734781;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|TMPPE|TMPPE|transcript|NM_001039770.2|protein_coding|2/2|c.537C>T|p.Ala179Ala|728/3971|537/1362|179/453||,A|synonymous_variant|LOW|TMPPE|TMPPE|transcript|NM_001136238.1|protein_coding|2/2|c.126C>T|p.Ala42Ala|213/3456|126/951|42/316||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|1/16|c.75+3352C>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding|1/15|c.-16+3060C>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|1/15|c.75+3352C>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|1/12|c.75+3352C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=230;p3_1000G_AF=0.0459265;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.0115;p3_1000G_AN=5008;p3_1000G_DP=19120;p3_1000G_EAS_AF=0.0377;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33135151;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0532;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=359,4047;ESP6500_AA_AGE=186.4+/-213.3;ESP6500_AA_GTC=14,331,1858;ESP6500_CDS_SIZES=NM_001136238.1:951,NM_001135602.1:1641,NM_001079811.1:1944,NM_001039770.2:1362,NM_000404.2:2034;ESP6500_CG=-12.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=48;ESP6500_EA_AC=4,8596;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=0,4,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001136238.1:coding-synonymous,NM_001135602.1:intron,NM_001079811.1:intron,NM_001039770.2:coding-synonymous,NM_000404.2:intron;ESP6500_GL=GLB1,TMPPE;ESP6500_GRCh38_POSITION=3:33093659;ESP6500_GTC=14,335,6154;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001136238.1:c.126C>T,NM_001135602.1:c.75+3352C>T,NM_001079811.1:c.-20961C>T,NM_001039770.2:c.537C>T,NM_000404.2:c.75+3352C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001136238.1:p.(A42),.,.,NM_001039770.2:p.(A179),.;ESP6500_MAF=0.0465,8.148,2.791;ESP6500_TAC=363,12643	GT:AD:DP:GQ:PL	0/1:29,52:81:99:1425,0,740
chr3	33096921	rs149553048	C	A	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.935;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=2.19;SOR=0.473;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs149553048;dbSNPBuildID=134;ANN=A|upstream_gene_variant|MODIFIER|TMPPE|TMPPE|transcript|NM_001039770.2|protein_coding||c.-2726G>T|||||120|,A|upstream_gene_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding||c.-24223G>T|||||89|,A|upstream_gene_variant|MODIFIER|TMPPE|TMPPE|transcript|NM_001136238.1|protein_coding||c.-3137G>T|||||120|,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|1/16|c.75+90G>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_000404.3|protein_coding|1/15|c.75+90G>T||||||,A|intron_variant|MODIFIER|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|1/12|c.75+90G>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=63;p3_1000G_AF=0.0125799;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.0029;p3_1000G_AN=5008;p3_1000G_DP=9445;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33138413;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,7:16:99:229,0,294
chr3	33097052	rs7614776;92905	A	G	2267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=76;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.24;SOR=0.955;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7614776;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001317040.1|protein_coding|1/17|c.34T>C|p.Leu12Leu|179/2760|34/2178|12/725||,G|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_000404.3|protein_coding|1/16|c.34T>C|p.Leu12Leu|179/2616|34/2034|12/677||,G|synonymous_variant|LOW|GLB1|GLB1|transcript|NM_001135602.2|protein_coding|1/13|c.34T>C|p.Leu12Leu|179/2223|34/1641|12/546||,G|upstream_gene_variant|MODIFIER|TMPPE|TMPPE|transcript|NM_001039770.2|protein_coding||c.-2857T>C|||||251|,G|upstream_gene_variant|MODIFIER|GLB1|GLB1|transcript|NM_001079811.2|protein_coding||c.-24354T>C|||||220|,G|upstream_gene_variant|MODIFIER|TMPPE|TMPPE|transcript|NM_001136238.1|protein_coding||c.-3268T>C|||||251|;p3_1000G_AA=G|||;p3_1000G_AC=4646;p3_1000G_AF=0.927716;p3_1000G_AFR_AF=0.8684;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=12253;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33138544;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9489;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3516,496;ESP6500_AA_GTC=1541,434,31;ESP6500_CDS_SIZES=NM_001135602.1:1641,NM_000404.2:2034;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=53;ESP6500_EA_AC=7426,960;ESP6500_EA_GTC=3280,866,47;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001135602.1:coding-synonymous,NM_000404.2:coding-synonymous;ESP6500_GL=GLB1;ESP6500_GRCh38_POSITION=3:33097052;ESP6500_GTC=4821,1300,78;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001135602.1:c.34T>C,NM_000404.2:c.34T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001135602.1:p.(L12),NM_000404.2:p.(L12);ESP6500_MAF=11.4477,12.3629,11.7438;ESP6500_TAC=10942,1456;CLINVAR_ALLELEID=98812;CLINVAR_CLNDISDB=MedGen:C0026707,Orphanet:ORPHA582,SNOMED_CT:378007|MedGen:C0085131,Orphanet:ORPHA354|MedGen:CN169374;CLINVAR_CLNDN=Morquio_syndrome|GM1_gangliosidosis|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.33097052A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31801;CLINVAR_GENEINFO=GLB1:2720;CLINVAR_MC=SO:0001636|2KB_upstream_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7614776	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2296,225,0
chr3	33114290	rs11558338;193339	G	A	991.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.743;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=5.681;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=0.266;SOR=0.938;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11558338;dbSNPBuildID=120;ANN=A|synonymous_variant|LOW|CRTAP|CRTAP|transcript|NM_006371.4|protein_coding|1/7|c.213G>A|p.Leu71Leu|333/6651|213/1206|71/401||;p3_1000G_AA=G|||;p3_1000G_AC=1247;p3_1000G_AF=0.249002;p3_1000G_AFR_AF=0.2965;p3_1000G_AMR_AF=0.1225;p3_1000G_AN=5008;p3_1000G_DP=9713;p3_1000G_EAS_AF=0.503;p3_1000G_EUR_AF=0.0924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33155782;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=901,3141;ESP6500_AA_GTC=87,727,1207;ESP6500_CDS_SIZES=NM_006371.4:1206;ESP6500_CG=3.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=6;ESP6500_EA_AC=607,7415;ESP6500_EA_GTC=26,555,3430;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006371.4:coding-synonymous;ESP6500_GL=CRTAP;ESP6500_GRCh38_POSITION=3:33114290;ESP6500_GTC=113,1282,4637;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006371.4:c.213G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006371.4:p.(L71);ESP6500_MAF=7.5667,22.2909,12.5;ESP6500_TAC=1508,10556;CLINVAR_AF_ESP=0.1250;CLINVAR_AF_EXAC=0.21874;CLINVAR_AF_TGP=0.2490;CLINVAR_ALLELEID=190503;CLINVAR_CLNDISDB=MedGen:C1853162,OMIM:610682|MedGen:CN169374|MedGen:CN239451;CLINVAR_CLNDN=Osteogenesis_imperfecta_type_7|not_specified|Osteogenesis_Imperfecta,_Recessive;CLINVAR_CLNHGVS=NC_000003.12:g.33114290G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31824;CLINVAR_GENEINFO=CRTAP:10491;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=11558338	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,39:58:99:0|1:33114289_T_C:1020,0,426
chr3	33120237	rs4074416	A	G	44.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.38;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.38;SOR=0.105;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4074416;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|CRTAP|CRTAP|transcript|NM_006371.4|protein_coding|1/6|c.472-107A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1415;p3_1000G_AF=0.282548;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=20520;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.1044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33161729;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:69:73,0,69
chr3	33120253	rs4074415	A	G	34.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.126;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=0.524;SOR=0.061;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4074415;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|CRTAP|CRTAP|transcript|NM_006371.4|protein_coding|1/6|c.472-91A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1415;p3_1000G_AF=0.282548;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=20691;p3_1000G_EAS_AF=0.5853;p3_1000G_EUR_AF=0.1044;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33161745;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:63:63,0,109
chr3	33120406	rs4076086;195265	C	T	374.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=4.288;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.844;SOR=1.099;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4076086;dbSNPBuildID=108;ANN=T|synonymous_variant|LOW|CRTAP|CRTAP|transcript|NM_006371.4|protein_coding|2/7|c.534C>T|p.Asp178Asp|654/6651|534/1206|178/401||;p3_1000G_AA=C|||;p3_1000G_AC=1414;p3_1000G_AF=0.282348;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.1369;p3_1000G_AN=5008;p3_1000G_DP=19729;p3_1000G_EAS_AF=0.5843;p3_1000G_EUR_AF=0.1044;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33161898;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1963;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1423,2983;ESP6500_AA_AGE=464.9+/-354.0;ESP6500_AA_GTC=231,961,1011;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...10491&amp%3Brs...4076086;ESP6500_CDS_SIZES=NM_006371.4:1206;ESP6500_CG=-7.1;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=121;ESP6500_EA_AC=732,7868;ESP6500_EA_AGE=177.8+/-227.3;ESP6500_EA_GTC=29,674,3597;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006371.4:coding-synonymous;ESP6500_GL=CRTAP;ESP6500_GRCh38_POSITION=3:33120406;ESP6500_GTC=260,1635,4608;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006371.4:c.534C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006371.4:p.(D178);ESP6500_MAF=8.5116,32.2969,16.5693;ESP6500_TAC=2155,10851;CLINVAR_AF_ESP=0.1657;CLINVAR_AF_EXAC=0.17037;CLINVAR_AF_TGP=0.2824;CLINVAR_ALLELEID=192426;CLINVAR_CLNDISDB=MedGen:C1853162,OMIM:610682|MedGen:CN169374|MedGen:CN239451;CLINVAR_CLNDN=Osteogenesis_imperfecta_type_7|not_specified|Osteogenesis_Imperfecta,_Recessive;CLINVAR_CLNHGVS=NC_000003.12:g.33120406C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:31849;CLINVAR_GENEINFO=CRTAP:10491;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4076086	GT:AD:DP:GQ:PL	0/1:26,18:44:99:403,0,564
chr3	33120430	rs35357409;195266	A	G	516.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.22;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=4.506;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.243;SOR=0.925;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35357409;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|CRTAP|CRTAP|transcript|NM_006371.4|protein_coding|2/7|c.558A>G|p.Ala186Ala|678/6651|558/1206|186/401||;p3_1000G_AA=A|||;p3_1000G_AC=154;p3_1000G_AF=0.0307508;p3_1000G_AFR_AF=0.0946;p3_1000G_AMR_AF=0.013;p3_1000G_AN=5008;p3_1000G_DP=19282;p3_1000G_EAS_AF=0.0198;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33161922;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=391,4015;ESP6500_AA_AGE=196.0+/-220.5;ESP6500_AA_GTC=17,357,1829;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...10491&amp%3Brs...35357409;ESP6500_CDS_SIZES=NM_006371.4:1206;ESP6500_CG=-9.9;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=112;ESP6500_EA_AC=3,8597;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,3,4297;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006371.4:coding-synonymous;ESP6500_GL=CRTAP;ESP6500_GRCh38_POSITION=3:33120430;ESP6500_GTC=17,360,6126;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006371.4:c.558A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006371.4:p.(A186);ESP6500_MAF=0.0349,8.8743,3.0294;ESP6500_TAC=394,12612;CLINVAR_AF_ESP=0.0303;CLINVAR_AF_EXAC=0.00953;CLINVAR_AF_TGP=0.0308;CLINVAR_ALLELEID=192427;CLINVAR_CLNDISDB=MedGen:C1853162,OMIM:610682|MedGen:CN169374|MedGen:CN239451|MedGen:CN517202;CLINVAR_CLNDN=Osteogenesis_imperfecta_type_7|not_specified|Osteogenesis_Imperfecta,_Recessive|not_provided;CLINVAR_CLNHGVS=NC_000003.12:g.33120430A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:548432;CLINVAR_GENEINFO=CRTAP:10491;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=35357409	GT:AD:DP:GQ:PL	0/1:19,22:41:99:545,0,452
chr3	33130167	rs4392367	A	G	850.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.49;SOR=2.925;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4392367;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|CRTAP|CRTAP|transcript|NM_006371.4|protein_coding|4/6|c.922+100A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4297;p3_1000G_AF=0.858027;p3_1000G_AFR_AF=0.8759;p3_1000G_AMR_AF=0.7752;p3_1000G_AN=5008;p3_1000G_DP=20012;p3_1000G_EAS_AF=0.9762;p3_1000G_EUR_AF=0.7654;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33171659;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8661;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:879,72,0
chr3	33134301	rs4234239	C	A	849.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.35;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4234239;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|CRTAP|CRTAP|transcript|NM_006371.4|protein_coding|6/6|c.1152+36C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4376;p3_1000G_AF=0.873802;p3_1000G_AFR_AF=0.8812;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=19641;p3_1000G_EAS_AF=0.9474;p3_1000G_EUR_AF=0.841;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33175793;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8691;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3946,460;ESP6500_AA_AGE=218.7+/-236.7;ESP6500_AA_GTC=1762,422,19;ESP6500_CDS_SIZES=NM_006371.4:1206;ESP6500_CG=0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=90;ESP6500_EA_AC=7168,1432;ESP6500_EA_AGE=274.5+/-291.2;ESP6500_EA_GTC=2984,1200,116;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006371.4:intron;ESP6500_GL=CRTAP;ESP6500_GRCh38_POSITION=3:33134301;ESP6500_GTC=4746,1622,135;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_006371.4:c.1152+36C>A;ESP6500_MAF=16.6512,10.4403,14.5471;ESP6500_TAC=11114,1892	GT:AD:DP:GQ:PL	1/1:0,28:28:84:878,84,0
chr3	33152646	rs6773595	T	C	867.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.71;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6773595;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|SUSD5|SUSD5|transcript|NM_015551.1|protein_coding|5/5|c.*96A>G|||||96|,C|downstream_gene_variant|MODIFIER|CRTAP|CRTAP|transcript|NM_006371.4|protein_coding||c.*10198T>C|||||4873|;p3_1000G_AA=C|||;p3_1000G_AC=4499;p3_1000G_AF=0.898363;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.8847;p3_1000G_AN=5008;p3_1000G_DP=20231;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.8082;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33194138;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9673;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:896,75,0
chr3	33153498	rs6810039	C	A	3906.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=132;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.82;SOR=0.771;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6810039;dbSNPBuildID=116;ANN=A|missense_variant|MODERATE|SUSD5|SUSD5|transcript|NM_015551.1|protein_coding|5/5|c.1134G>T|p.Glu378Asp|1552/5005|1134/1890|378/629||;p3_1000G_AA=A|||;p3_1000G_AC=3305;p3_1000G_AF=0.659944;p3_1000G_AFR_AF=0.7307;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=21284;p3_1000G_EAS_AF=0.8542;p3_1000G_EUR_AF=0.3936;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33194990;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6493;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2899,1285;ESP6500_AA_GTC=1014,871,207;ESP6500_CDS_SIZES=NM_015551.1:1890;ESP6500_CG=-9.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=105;ESP6500_EA_AC=3273,5189;ESP6500_EA_GTC=644,1985,1602;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015551.1:missense;ESP6500_GL=SUSD5;ESP6500_GRCh38_POSITION=3:33153498;ESP6500_GS=45;ESP6500_GTC=1658,2856,1809;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_015551.1:c.1134G>T;ESP6500_HGVS_PROTEIN_VAR=NM_015551.1:p.(E378D);ESP6500_MAF=38.6788,30.7122,48.8059;ESP6500_PH=benign:0.0;ESP6500_TAC=6172,6474	GT:AD:DP:GQ:PL	1/1:0,131:131:99:3935,392,0
chr3	33207749	rs78107232	C	A	281.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.073;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.036;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78107232;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|SUSD5|SUSD5|transcript|NM_015551.1|protein_coding|3/4|c.409+59G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=267;p3_1000G_AF=0.0533147;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.0173;p3_1000G_AN=5008;p3_1000G_DP=19901;p3_1000G_EAS_AF=0.0407;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33249241;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0051;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:310,0,442
chr3	33214100	rs9637517	A	G	1344.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.05;SOR=1.949;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9637517;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|SUSD5|SUSD5|transcript|NM_015551.1|protein_coding|2/5|c.118T>C|p.Phe40Leu|536/5005|118/1890|40/629||;p3_1000G_AA=G|||;p3_1000G_AC=4756;p3_1000G_AF=0.949681;p3_1000G_AFR_AF=0.9871;p3_1000G_AMR_AF=0.9265;p3_1000G_AN=5008;p3_1000G_DP=17007;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.8489;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33255592;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9724;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3859,117;ESP6500_AA_GTC=1872,115,1;ESP6500_CDS_SIZES=NM_015551.1:1890;ESP6500_CG=5.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=35;ESP6500_EA_AC=7096,1194;ESP6500_EA_GTC=3034,1028,83;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015551.1:missense;ESP6500_GL=SUSD5;ESP6500_GRCh38_POSITION=3:33214100;ESP6500_GS=22;ESP6500_GTC=4906,1143,84;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_015551.1:c.118T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015551.1:p.(F40L);ESP6500_MAF=14.4029,2.9427,10.6881;ESP6500_PH=benign:0.0;ESP6500_TAC=10955,1311	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1373,108,0
chr3	33218930	rs6764459	C	T	30.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6764459;dbSNPBuildID=116;ANN=T|5_prime_UTR_variant|MODIFIER|SUSD5|SUSD5|transcript|NM_015551.1|protein_coding|1/5|c.-133G>A|||||133|;p3_1000G_AA=C|||;p3_1000G_AC=1229;p3_1000G_AF=0.245407;p3_1000G_AFR_AF=0.2284;p3_1000G_AMR_AF=0.3573;p3_1000G_AN=5008;p3_1000G_DP=10631;p3_1000G_EAS_AF=0.3284;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33260422;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:59:59,0,59
chr3	33317558	rs67505561	A	G	421.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.07;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-1.092;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs67505561;dbSNPBuildID=130;ANN=G|intron_variant|MODIFIER|FBXL2|FBXL2|transcript|NM_012157.3|protein_coding|2/14|c.65+19833A>G||||||,G|intron_variant|MODIFIER|FBXL2|FBXL2|transcript|NM_001171713.1|protein_coding|2/13|c.65+19833A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=965;p3_1000G_AF=0.192692;p3_1000G_AFR_AF=0.028;p3_1000G_AMR_AF=0.2406;p3_1000G_AN=5008;p3_1000G_DP=20724;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.1362;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33359050;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2147;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:11,16:27:99:450,0,260
chr3	33372976	rs4678933	G	C	567.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.88;SOR=2.584;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4678933;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|FBXL2|FBXL2|transcript|NM_012157.3|protein_coding|5/14|c.291-116G>C||||||,C|intron_variant|MODIFIER|FBXL2|FBXL2|transcript|NM_001171713.1|protein_coding|5/13|c.291-116G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2166;p3_1000G_AF=0.432508;p3_1000G_AFR_AF=0.4266;p3_1000G_AMR_AF=0.4856;p3_1000G_AN=5008;p3_1000G_DP=21022;p3_1000G_EAS_AF=0.5794;p3_1000G_EUR_AF=0.3062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33414468;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3814;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,16:16:48:596,48,0
chr3	33373431	rs2291898	G	A	1043.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.67;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2291898;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|FBXL2|FBXL2|transcript|NM_012157.3|protein_coding|7/14|c.455+76G>A||||||,A|intron_variant|MODIFIER|FBXL2|FBXL2|transcript|NM_001171713.1|protein_coding|7/13|c.400+131G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2575;p3_1000G_AF=0.514177;p3_1000G_AFR_AF=0.6573;p3_1000G_AMR_AF=0.5706;p3_1000G_AN=5008;p3_1000G_DP=20908;p3_1000G_EAS_AF=0.6052;p3_1000G_EUR_AF=0.3161;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33414923;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3906;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1072,93,0
chr3	33385391	rs17030546	C	G	298.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.16;SOR=1.27;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17030546;dbSNPBuildID=123;ANN=G|downstream_gene_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128161.1|protein_coding||c.*4940G>C|||||2945|,G|downstream_gene_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128160.1|protein_coding||c.*4940G>C|||||2945|,G|downstream_gene_variant|MODIFIER|UBP1|UBP1|transcript|NM_014517.4|protein_coding||c.*4940G>C|||||2945|,G|intron_variant|MODIFIER|FBXL2|FBXL2|transcript|NM_012157.3|protein_coding|14/14|c.1165-110C>G||||||,G|intron_variant|MODIFIER|FBXL2|FBXL2|transcript|NM_001171713.1|protein_coding|13/13|c.961-110C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1888;p3_1000G_AF=0.376997;p3_1000G_AFR_AF=0.4191;p3_1000G_AMR_AF=0.4395;p3_1000G_AN=5008;p3_1000G_DP=20092;p3_1000G_EAS_AF=0.4841;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33426883;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:327,33,0
chr3	33393339	rs2293250	G	A	622.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.95;SOR=1.051;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2293250;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|UBP1|UBP1|transcript|NM_001128161.1|protein_coding|15/17|c.1506C>T|p.Thr502Thr|1655/3767|1506/1623|502/540||,A|synonymous_variant|LOW|UBP1|UBP1|transcript|NM_001128160.1|protein_coding|13/15|c.1398C>T|p.Thr466Thr|1928/4040|1398/1515|466/504||,A|synonymous_variant|LOW|UBP1|UBP1|transcript|NM_014517.4|protein_coding|14/16|c.1506C>T|p.Thr502Thr|2036/4148|1506/1623|502/540||;p3_1000G_AA=A|||;p3_1000G_AC=2705;p3_1000G_AF=0.540136;p3_1000G_AFR_AF=0.5552;p3_1000G_AMR_AF=0.6326;p3_1000G_AN=5008;p3_1000G_DP=16560;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.4732;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33434831;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4468;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2543,1863;ESP6500_AA_AGE=540.7+/-375.6;ESP6500_AA_GTC=712,1119,372;ESP6500_CDS_SIZES=NM_014517.4:1623,NM_001128161.1:1623,NM_001128160.1:1515;ESP6500_CG=-2.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=3856,4744;ESP6500_EA_AGE=609.5+/-395.5;ESP6500_EA_GTC=848,2160,1292;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014517.4:coding-synonymous,NM_001128161.1:coding-synonymous,NM_001128160.1:coding-synonymous;ESP6500_GL=UBP1;ESP6500_GRCh38_POSITION=3:33393339;ESP6500_GTC=1560,3279,1664;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014517.4:c.1506C>T,NM_001128161.1:c.1506C>T,NM_001128160.1:c.1398C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014517.4:p.(T502),NM_001128161.1:p.(T502),NM_001128160.1:p.(T466);ESP6500_MAF=44.8372,42.2833,49.2004;ESP6500_TAC=6399,6607	GT:AD:DP:GQ:PL	1/1:0,24:24:72:651,72,0
chr3	33396052	rs3817476	T	C	1114.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.84;SOR=2.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3817476;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128161.1|protein_coding|14/16|c.1390+110A>G||||||,C|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128160.1|protein_coding|12/14|c.1282+110A>G||||||,C|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_014517.4|protein_coding|13/15|c.1390+110A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1611;p3_1000G_AF=0.321685;p3_1000G_AFR_AF=0.3434;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=19166;p3_1000G_EAS_AF=0.4563;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33437544;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2352;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1143,96,0
chr3	33412581	rs35702863;rs796423744;rs879230813	CA	C	149.75	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.72;SOR=3.258;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs35702863;dbSNPBuildID=126,147,146;ANN=C|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128161.1|protein_coding|5/16|c.448+140delT||||||,C|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128160.1|protein_coding|4/14|c.448+140delT||||||,C|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_014517.4|protein_coding|4/15|c.448+140delT||||||;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=2857;p3_1000G_AF=0.570487;p3_1000G_AFR_AF=0.6051;p3_1000G_AMR_AF=0.621;p3_1000G_AN=5008;p3_1000G_DP=15827;p3_1000G_EAS_AF=0.628;p3_1000G_EUR_AF=0.4901;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33454073;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,7:8:5:168,5,0
chr3	33412850	rs2272152	G	A	1424.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.66;SOR=2.252;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272152;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128161.1|protein_coding|4/16|c.343-23C>T||||||,A|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128160.1|protein_coding|3/14|c.343-23C>T||||||,A|intron_variant|MODIFIER|UBP1|UBP1|transcript|NM_014517.4|protein_coding|3/15|c.343-23C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1639;p3_1000G_AF=0.327276;p3_1000G_AFR_AF=0.3707;p3_1000G_AMR_AF=0.3674;p3_1000G_AN=5008;p3_1000G_DP=16368;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33454342;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1615,2791;ESP6500_AA_AGE=498.4+/-364.1;ESP6500_AA_GTC=293,1029,881;ESP6500_CDS_SIZES=NM_014517.4:1623,NM_001128161.1:1623,NM_001128160.1:1515;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=152;ESP6500_EA_AC=1365,7235;ESP6500_EA_AGE=266.8+/-286.9;ESP6500_EA_GTC=89,1187,3024;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014517.4:intron,NM_001128161.1:intron,NM_001128160.1:intron;ESP6500_GL=UBP1;ESP6500_GRCh38_POSITION=3:33412850;ESP6500_GTC=382,2216,3905;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014517.4:c.343-23C>T,NM_001128161.1:c.343-23C>T,NM_001128160.1:c.343-23C>T;ESP6500_MAF=15.8721,36.6546,22.9125;ESP6500_TAC=2980,10026	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1453,135,0
chr3	33416774	rs3736563	T	C	1891.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.51;SOR=0.899;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3736563;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|UBP1|UBP1|transcript|NM_001128161.1|protein_coding|4/17|c.326A>G|p.Asn109Ser|475/3767|326/1623|109/540||,C|missense_variant|MODERATE|UBP1|UBP1|transcript|NM_001128160.1|protein_coding|3/15|c.326A>G|p.Asn109Ser|856/4040|326/1515|109/504||,C|missense_variant|MODERATE|UBP1|UBP1|transcript|NM_014517.4|protein_coding|3/16|c.326A>G|p.Asn109Ser|856/4148|326/1623|109/540||;p3_1000G_AA=C|||;p3_1000G_AC=2399;p3_1000G_AF=0.479034;p3_1000G_AFR_AF=0.5333;p3_1000G_AMR_AF=0.5605;p3_1000G_AN=5008;p3_1000G_DP=18916;p3_1000G_EAS_AF=0.6091;p3_1000G_EUR_AF=0.3141;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33458266;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2363,2043;ESP6500_AA_AGE=566.7+/-382.0;ESP6500_AA_GTC=610,1143,450;ESP6500_CDS_SIZES=NM_014517.4:1623,NM_001128161.1:1623,NM_001128160.1:1515;ESP6500_CG=4.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=106;ESP6500_EA_AC=2423,6175;ESP6500_EA_AGE=697.0+/-404.9;ESP6500_EA_GTC=332,1759,2208;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014517.4:missense,NM_001128161.1:missense,NM_001128160.1:missense;ESP6500_GL=UBP1;ESP6500_GRCh38_POSITION=3:33416774;ESP6500_GS=46,46,46;ESP6500_GTC=942,2902,2658;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014517.4:c.326A>G,NM_001128161.1:c.326A>G,NM_001128160.1:c.326A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014517.4:p.(N109S),NM_001128161.1:p.(N109S),NM_001128160.1:p.(N109S);ESP6500_MAF=28.181,46.3686,36.8041;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=4786,8218	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1920,186,0
chr3	33439908	rs2272153	G	C	764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.31;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272153;dbSNPBuildID=100;ANN=C|5_prime_UTR_premature_start_codon_gain_variant|LOW|UBP1|UBP1|transcript|NM_001128161.1|protein_coding|2/17|c.-60C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|UBP1|UBP1|transcript|NM_001128160.1|protein_coding|1/15|c.-60C>G||||||,C|5_prime_UTR_premature_start_codon_gain_variant|LOW|UBP1|UBP1|transcript|NM_014517.4|protein_coding|1/16|c.-60C>G||||||,C|5_prime_UTR_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128161.1|protein_coding|2/17|c.-60C>G|||||60|,C|5_prime_UTR_variant|MODIFIER|UBP1|UBP1|transcript|NM_001128160.1|protein_coding|1/15|c.-60C>G|||||60|,C|5_prime_UTR_variant|MODIFIER|UBP1|UBP1|transcript|NM_014517.4|protein_coding|1/16|c.-60C>G|||||60|;p3_1000G_AA=G|||;p3_1000G_AC=1652;p3_1000G_AF=0.329872;p3_1000G_AFR_AF=0.3752;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=8834;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.2107;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33481400;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:793,60,0
chr3	33514419	rs2049338	C	T	794.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.84;SOR=4.804;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2049338;dbSNPBuildID=94;ANN=T|intron_variant|MODIFIER|CLASP2|CLASP2|transcript|NM_015097.2|protein_coding|36/38|c.4137+1604G>A||||||,T|intron_variant|MODIFIER|CLASP2|CLASP2|transcript|NM_001207044.1|protein_coding|30/32|c.3474+1604G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=19611;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33555911;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:823,66,0
chr3	33559027	rs187528419	C	T	30.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.69;ReadPosRankSum=-1.383;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187528419;dbSNPBuildID=135;ANN=T|intron_variant|MODIFIER|CLASP2|CLASP2|transcript|NM_015097.2|protein_coding|29/38|c.3036+280G>A||||||,T|intron_variant|MODIFIER|CLASP2|CLASP2|transcript|NM_001207044.1|protein_coding|23/32|c.2373+280G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=11;p3_1000G_AF=0.00219649;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18638;p3_1000G_EAS_AF=0.0109;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33600519;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:59:59,0,67
chr3	33584727	rs748131492	T	TA	23.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.852;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=2.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=-1.299;SOR=0.223;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=TA|intron_variant|MODIFIER|CLASP2|CLASP2|transcript|NM_015097.2|protein_coding|22/38|c.2242+22dupT||||||,TA|intron_variant|MODIFIER|CLASP2|CLASP2|transcript|NM_001207044.1|protein_coding|16/32|c.1540+22dupT||||||	GT:AD:DP:GQ:PL	0/1:7,4:11:61:61,0,122
chr3	33812255	rs9851801	C	T	24.78	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.13;ReadPosRankSum=-0.084;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9851801;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|2/17|c.264+129C>T||||||,T|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001256192.1|protein_coding|2/5|c.264+129C>T||||||,T|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|2/17|c.264+129C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=1635;p3_1000G_AF=0.326478;p3_1000G_AFR_AF=0.2859;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=16951;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.2296;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33853747;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3415;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,2:6:53:53,0,125
chr3	33821877	rs72619958	C	T	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.894;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.18;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72619958;dbSNPBuildID=130;ANN=T|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|3/17|c.335-78C>T||||||,T|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001256192.1|protein_coding|3/5|c.335-78C>T||||||,T|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|3/17|c.335-78C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1071;p3_1000G_AF=0.213858;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.2896;p3_1000G_AN=5008;p3_1000G_DP=17845;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33863369;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:71:128,0,71
chr3	33836016	rs3792595	T	A	255.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.827;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=4.771;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.05;ReadPosRankSum=-0.438;SOR=3.014;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3792595;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|7/17|c.850-28T>A||||||,A|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|7/17|c.835-28T>A||||||;p3_1000G_AA=t|||;p3_1000G_AC=1068;p3_1000G_AF=0.213259;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=17640;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33877508;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=445,3833;ESP6500_AA_GTC=25,395,1719;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_001162429.2:2622;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=29;ESP6500_EA_AC=744,7820;ESP6500_EA_GTC=38,668,3576;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013374.5:intron,NM_001162429.2:intron;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33836016;ESP6500_GTC=63,1063,5295;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.835-28T>A,NM_001162429.2:c.850-28T>A;ESP6500_MAF=8.6875,10.4021,9.2587;ESP6500_TAC=1189,11653	GT:AD:DP:GQ:PL	0/1:5,10:15:99:284,0,118
chr3	33836134	rs3792594	G	A	405.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.435;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.524;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=2.06;SOR=1.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3792594;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|8/18|c.940G>A|p.Ala314Thr|1098/5962|940/2622|314/873||,A|missense_variant|MODERATE|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|8/18|c.925G>A|p.Ala309Thr|1083/5947|925/2607|309/868||;p3_1000G_AA=A|||;p3_1000G_AC=1639;p3_1000G_AF=0.327276;p3_1000G_AFR_AF=0.2912;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=18899;p3_1000G_EAS_AF=0.4067;p3_1000G_EUR_AF=0.2326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33877626;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3384;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1309,3097;ESP6500_AA_AGE=697.2+/-406.2;ESP6500_AA_GTC=175,959,1069;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_001162429.2:2622;ESP6500_CG=2.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=164;ESP6500_EA_AC=2278,6322;ESP6500_EA_AGE=707.5+/-405.6;ESP6500_EA_GTC=280,1718,2302;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_013374.5:missense,NM_001162429.2:missense;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33836134;ESP6500_GS=58,58;ESP6500_GTC=455,2677,3371;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.925G>A,NM_001162429.2:c.940G>A;ESP6500_HGVS_PROTEIN_VAR=NM_013374.5:p.(A309T),NM_001162429.2:p.(A314T);ESP6500_MAF=26.4884,29.7095,27.5796;ESP6500_PH=benign:0.002,benign:0.002;ESP6500_TAC=3587,9419	GT:AD:DP:GQ:PL	0/1:26,19:45:99:434,0,677
chr3	33838110	rs369198522;rs78289090	CTA	C	98.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.75;SOR=1.179;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs78289090,rs369198522;dbSNPBuildID=131,138;ANN=C|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|8/17|c.1073-92_1073-91delAT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|8/17|c.1058-92_1058-91delAT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1493;p3_1000G_AF=0.298123;p3_1000G_AFR_AF=0.2451;p3_1000G_AMR_AF=0.3761;p3_1000G_AN=5008;p3_1000G_DP=17180;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.2058;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33879602;p3_1000G_GRCH37_REF=CTA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0
chr3	33838278	rs3203777	G	A	127.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.282;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=1.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=0;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3203777;dbSNPBuildID=105;ANN=A|missense_variant|MODERATE|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|9/18|c.1147G>A|p.Val383Ile|1305/5962|1147/2622|383/873||,A|missense_variant|MODERATE|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|9/18|c.1132G>A|p.Val378Ile|1290/5947|1132/2607|378/868||;p3_1000G_AA=G|||;p3_1000G_AC=1470;p3_1000G_AF=0.29353;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.2334;p3_1000G_AN=5008;p3_1000G_DP=16153;p3_1000G_EAS_AF=0.3442;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33879770;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4969;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=379,4027;ESP6500_AA_AGE=189.5+/-215.6;ESP6500_AA_GTC=16,347,1840;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_001162429.2:2622;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=79;ESP6500_EA_AC=3810,4790;ESP6500_EA_AGE=537.9+/-383.3;ESP6500_EA_GTC=848,2114,1338;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_013374.5:missense,NM_001162429.2:missense;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33838278;ESP6500_GS=29,29;ESP6500_GTC=864,2461,3178;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.1132G>A,NM_001162429.2:c.1147G>A;ESP6500_HGVS_PROTEIN_VAR=NM_013374.5:p.(V378I),NM_001162429.2:p.(V383I);ESP6500_MAF=44.3023,8.6019,32.2082;ESP6500_PH=benign:0.022,benign:0.022;ESP6500_TAC=4189,8817	GT:AD:DP:GQ:PL	0/1:16,8:24:99:156,0,394
chr3	33845610	rs11928792	A	G	759.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.174;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=2.227;MLEAC=1;MLEAF=0.5;MQ=58.81;MQRankSum=-2.461;QD=12.88;ReadPosRankSum=0;SOR=0.437;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11928792;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|12/17|c.1656+22A>G||||||,G|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|12/17|c.1641+22A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1655;p3_1000G_AF=0.330471;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=17078;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.2326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33887102;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3456;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1314,3092;ESP6500_AA_AGE=692.9+/-405.6;ESP6500_AA_GTC=178,958,1067;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_001162429.2:2622;ESP6500_CG=2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=59;ESP6500_EA_AC=2276,6324;ESP6500_EA_AGE=701.7+/-405.2;ESP6500_EA_GTC=281,1714,2305;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013374.5:intron,NM_001162429.2:intron;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33845610;ESP6500_GTC=459,2672,3372;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.1641+22A>G,NM_001162429.2:c.1656+22A>G;ESP6500_MAF=26.4651,29.823,27.6026;ESP6500_TAC=3590,9416	GT:AD:DP:GQ:PL	0/1:26,33:59:99:788,0,673
chr3	33845686	rs11928817	A	T	363.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.989;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.95;SOR=0.99;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11928817;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|12/17|c.1656+98A>T||||||,T|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|12/17|c.1641+98A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1073;p3_1000G_AF=0.214257;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=17985;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33887178;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,15:27:99:392,0,295
chr3	33853899	rs3183982	A	G	202.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.138;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.669;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3183982;dbSNPBuildID=126;ANN=G|synonymous_variant|LOW|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|14/18|c.1926A>G|p.Ser642Ser|2084/5962|1926/2622|642/873||,G|synonymous_variant|LOW|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|14/18|c.1911A>G|p.Ser637Ser|2069/5947|1911/2607|637/868||;p3_1000G_AA=G|||;p3_1000G_AC=1654;p3_1000G_AF=0.330272;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=16027;p3_1000G_EAS_AF=0.4107;p3_1000G_EUR_AF=0.2326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33895391;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1184,3206;ESP6500_AA_GTC=162,860,1173;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_001162429.2:2622;ESP6500_CG=-9.9;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=17;ESP6500_EA_AC=2114,6460;ESP6500_EA_GTC=272,1570,2445;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013374.5:coding-synonymous,NM_001162429.2:coding-synonymous;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33853899;ESP6500_GTC=434,2430,3618;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.1911A>G,NM_001162429.2:c.1926A>G;ESP6500_HGVS_PROTEIN_VAR=NM_013374.5:p.(S637),NM_001162429.2:p.(S642);ESP6500_MAF=24.6559,26.9704,25.4397;ESP6500_TAC=3298,9666	GT:AD:DP:GQ:PL	0/1:5,9:14:99:231,0,115
chr3	33855447	rs137884685;rs80352187	AAAG	A	73.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.61;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=59.14;MQRankSum=-0.703;QD=9.22;ReadPosRankSum=-0.272;SOR=0.307;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs137884685;dbSNPBuildID=134,137;ANN=A|sequence_feature|MODERATE|PDCD6IP|PDCD6IP|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_001162429.2|protein_coding|15/17|c.2135+188_2135+190delAAG||||||,A|sequence_feature|MODERATE|PDCD6IP|PDCD6IP|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_013374.5|protein_coding|15/17|c.2120+188_2120+190delAAG||||||,A|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|15/17|c.2135+191_2135+193delAAG||||||INFO_REALIGN_3_PRIME,A|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|15/17|c.2120+191_2120+193delAAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=1078;p3_1000G_AF=0.215256;p3_1000G_AFR_AF=0.1377;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=20384;p3_1000G_EAS_AF=0.3859;p3_1000G_EUR_AF=0.0845;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33896939;p3_1000G_GRCH37_REF=AAAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2239;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:5,3:8:99:111,0,246
chr3	33863979	rs11922311	A	G	701.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.44;ClippingRankSum=0;DP=69;ExcessHet=3.0103;FS=8.49;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.077;SOR=2.034;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11922311;dbSNPBuildID=120;ANN=G|sequence_feature|MODERATE|PDCD6IP|PDCD6IP|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_001162429.2|protein_coding|15/17|c.2136-27A>G||||||,G|sequence_feature|MODERATE|PDCD6IP|PDCD6IP|cross-link:Glycyl_lysine_isopeptide_(Lys-Gly)_(interchain_with_G-Cter_in_ubiquitin)|NM_013374.5|protein_coding|15/17|c.2121-27A>G||||||,G|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|15/17|c.2136-27A>G||||||,G|intron_variant|MODIFIER|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|15/17|c.2121-27A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1074;p3_1000G_AF=0.214457;p3_1000G_AFR_AF=0.1346;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=19222;p3_1000G_EAS_AF=0.3849;p3_1000G_EUR_AF=0.0845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33905471;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=531,3875;ESP6500_AA_AGE=240.3+/-251.1;ESP6500_AA_GTC=37,457,1709;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_001162429.2:2622;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=45;ESP6500_EA_AC=810,7790;ESP6500_EA_AGE=188.3+/-235.3;ESP6500_EA_GTC=43,724,3533;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013374.5:intron,NM_001162429.2:intron;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33863979;ESP6500_GTC=80,1181,5242;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.2121-27A>G,NM_001162429.2:c.2136-27A>G;ESP6500_MAF=9.4186,12.0517,10.3106;ESP6500_TAC=1341,11665	GT:AD:DP:GQ:PL	0/1:45,24:69:99:730,0,1178
chr3	33864074	rs1127732	C	T	913.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.063;ClippingRankSum=0;DP=107;ExcessHet=3.0103;FS=0.726;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.826;SOR=0.605;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1127732;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|16/18|c.2204C>T|p.Ser735Leu|2362/5962|2204/2622|735/873||,T|missense_variant|MODERATE|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|16/18|c.2189C>T|p.Ser730Leu|2347/5947|2189/2607|730/868||,T|sequence_feature|MODERATE|PDCD6IP|PDCD6IP|modified-residue:Phosphoserine|NM_001162429.2|protein_coding|16/18|c.2204C>T||||||,T|sequence_feature|MODERATE|PDCD6IP|PDCD6IP|modified-residue:Phosphoserine|NM_013374.5|protein_coding|16/18|c.2189C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1241;p3_1000G_AF=0.247804;p3_1000G_AFR_AF=0.1581;p3_1000G_AMR_AF=0.3112;p3_1000G_AN=5008;p3_1000G_DP=18749;p3_1000G_EAS_AF=0.3889;p3_1000G_EUR_AF=0.1332;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33905566;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=693,3713;ESP6500_AA_AGE=291.8+/-281.7;ESP6500_AA_GTC=58,577,1568;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_001162429.2:2622;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=76;ESP6500_EA_AC=1313,7287;ESP6500_EA_AGE=259.0+/-282.4;ESP6500_EA_GTC=98,1117,3085;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_013374.5:missense,NM_001162429.2:missense;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33864074;ESP6500_GS=145,145;ESP6500_GTC=156,1694,4653;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.2189C>T,NM_001162429.2:c.2204C>T;ESP6500_HGVS_PROTEIN_VAR=NM_013374.5:p.(S730L),NM_001162429.2:p.(S735L);ESP6500_MAF=15.2674,15.7286,15.4237;ESP6500_PH=possibly-damaging:0.536,possibly-damaging:0.536;ESP6500_TAC=2006,11000	GT:AD:DP:GQ:PL	0/1:63,44:107:99:942,0,1605
chr3	33866343	rs5847794;rs74673337;~rs33982925	T	TCTCC	712.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.38;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=-0.78;SOR=0.922;INS;HET;VARTYPE=INS;dbSNP138_ID=rs74673337,rs5847794;dbSNPBuildID=125,131;ANN=TCTCC|splice_region_variant&intron_variant|LOW|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|17/17|c.2448-6_2448-5insCCCT||||||INFO_REALIGN_3_PRIME,TCTCC|splice_region_variant&intron_variant|LOW|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|17/17|c.2433-6_2433-5insCCCT||||||INFO_REALIGN_3_PRIME;ESP6500_AA_AC=1240,4,29,2993;ESP6500_AA_GTC=159,2,10,910,0,0,2,0,19,1031;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_013374.5:2607,NM_013374.5:2607,NM_001162429.2:2622,NM_001162429.2:2622,NM_001162429.2:2622;ESP6500_CG=3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=58;ESP6500_EA_AC=2033,0,0,6221;ESP6500_EA_GTC=229,0,0,1575,0,0,0,0,0,2323;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013374.5:intron,NM_013374.5:intron,NM_013374.5:intron,NM_001162429.2:intron,NM_001162429.2:intron,NM_001162429.2:intron;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33866343;ESP6500_GTC=388,2,10,2485,0,0,2,0,19,3354;ESP6500_GTS=A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.2433-8_2433-7insCTCT,NM_013374.5:c.2433-8_2433-7insCTCA,NM_013374.5:c.2433-8_2433-7insCTCC,NM_001162429.2:c.2448-8_2448-7insCTCT,NM_001162429.2:c.2448-8_2448-7insCTCA,NM_001162429.2:c.2448-8_2448-7insCTCC;ESP6500_MAF=24.6305,29.8406,26.4058;ESP6500_TAC=3273,4,29,9214	GT:AD:DP:GQ:PL	0/1:16,19:35:99:750,0,947
chr3	33866453	rs3183987	A	G	705.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.02;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.088;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3183987;dbSNPBuildID=105;ANN=G|synonymous_variant|LOW|PDCD6IP|PDCD6IP|transcript|NM_001162429.2|protein_coding|18/18|c.2550A>G|p.Pro850Pro|2708/5962|2550/2622|850/873||,G|synonymous_variant|LOW|PDCD6IP|PDCD6IP|transcript|NM_013374.5|protein_coding|18/18|c.2535A>G|p.Pro845Pro|2693/5947|2535/2607|845/868||;p3_1000G_AA=A|||;p3_1000G_AC=1655;p3_1000G_AF=0.330471;p3_1000G_AFR_AF=0.2943;p3_1000G_AMR_AF=0.4035;p3_1000G_AN=5008;p3_1000G_DP=15976;p3_1000G_EAS_AF=0.4117;p3_1000G_EUR_AF=0.2326;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=33907945;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3446;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1318,3088;ESP6500_AA_AGE=444.3+/-347.3;ESP6500_AA_GTC=179,960,1064;ESP6500_CDS_SIZES=NM_013374.5:2607,NM_001162429.2:2622;ESP6500_CG=-11.6;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_105;ESP6500_DP=87;ESP6500_EA_AC=2277,6323;ESP6500_EA_AGE=383.6+/-340.8;ESP6500_EA_GTC=281,1715,2304;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_013374.5:coding-synonymous,NM_001162429.2:coding-synonymous;ESP6500_GL=PDCD6IP;ESP6500_GRCh38_POSITION=3:33866453;ESP6500_GTC=460,2675,3368;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_013374.5:c.2535A>G,NM_001162429.2:c.2550A>G;ESP6500_HGVS_PROTEIN_VAR=NM_013374.5:p.(P845),NM_001162429.2:p.(P850);ESP6500_MAF=26.4767,29.9138,27.6411;ESP6500_TAC=3595,9411	GT:AD:DP:GQ:PL	0/1:27,28:55:99:734,0,659
chr3	35683758	rs969818	C	T	327.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.49;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.13;SOR=0.821;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs969818;dbSNPBuildID=86;ANN=T|synonymous_variant|LOW|ARPP21|ARPP21|transcript|NM_001267619.1|protein_coding|4/19|c.204C>T|p.Ser68Ser|416/3192|204/2442|68/813||,T|synonymous_variant|LOW|ARPP21|ARPP21|transcript|NM_001267616.1|protein_coding|5/6|c.204C>T|p.Ser68Ser|1641/3565|204/270|68/89||,T|synonymous_variant|LOW|ARPP21|ARPP21|transcript|NM_001267617.1|protein_coding|5/19|c.204C>T|p.Ser68Ser|451/3167|204/2382|68/793||,T|synonymous_variant|LOW|ARPP21|ARPP21|transcript|NM_016300.4|protein_coding|5/20|c.204C>T|p.Ser68Ser|468/3241|204/2439|68/812||,T|synonymous_variant|LOW|ARPP21|ARPP21|transcript|NM_001267618.1|protein_coding|4/5|c.204C>T|p.Ser68Ser|582/2506|204/270|68/89||,T|synonymous_variant|LOW|ARPP21|ARPP21|transcript|NM_001025068.1|protein_coding|5/6|c.204C>T|p.Ser68Ser|485/2409|204/270|68/89||,T|synonymous_variant|LOW|ARPP21|ARPP21|transcript|NM_001025069.1|protein_coding|5/6|c.204C>T|p.Ser68Ser|494/2418|204/270|68/89||,T|synonymous_variant|LOW|ARPP21|ARPP21|transcript|NM_198399.1|protein_coding|4/5|c.204C>T|p.Ser68Ser|476/2400|204/270|68/89||;p3_1000G_AA=T|||;p3_1000G_AC=3605;p3_1000G_AF=0.719848;p3_1000G_AFR_AF=0.8737;p3_1000G_AMR_AF=0.562;p3_1000G_AN=5008;p3_1000G_DP=16773;p3_1000G_EAS_AF=0.6508;p3_1000G_EUR_AF=0.6243;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35725250;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7935;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3693,711;ESP6500_AA_AGE=294.4+/-283.1;ESP6500_AA_GTC=1550,593,59;ESP6500_CDS_SIZES=NM_198399.1:270,NM_016300.4:2439,NM_001267619.1:2442,NM_001267618.1:270,NM_001267617.1:2382,NM_001267616.1:270,NM_001025069.1:270,NM_001025068.1:270;ESP6500_CG=-3.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=58;ESP6500_EA_AC=5574,3026;ESP6500_EA_AGE=463.9+/-366.1;ESP6500_EA_GTC=1828,1918,554;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198399.1:coding-synonymous,NM_016300.4:coding-synonymous,NM_001267619.1:coding-synonymous,NM_001267618.1:coding-synonymous,NM_001267617.1:coding-synonymous,NM_001267616.1:coding-synonymous,NM_001025069.1:coding-synonymous,NM_001025068.1:coding-synonymous;ESP6500_GL=ARPP21;ESP6500_GRCh38_POSITION=3:35683758;ESP6500_GTC=3378,2511,613;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198399.1:c.204C>T,NM_016300.4:c.204C>T,NM_001267619.1:c.204C>T,NM_001267618.1:c.204C>T,NM_001267617.1:c.204C>T,NM_001267616.1:c.204C>T,NM_001025069.1:c.204C>T,NM_001025068.1:c.204C>T;ESP6500_HGVS_PROTEIN_VAR=NM_198399.1:p.(S68),NM_016300.4:p.(S68),NM_001267619.1:p.(S68),NM_001267618.1:p.(S68),NM_001267617.1:p.(S68),NM_001267616.1:p.(S68),NM_001025069.1:p.(S68),NM_001025068.1:p.(S68);ESP6500_MAF=35.186,16.1444,28.7373;ESP6500_TAC=9267,3737	GT:AD:DP:GQ:PL	0/1:19,15:34:99:356,0,457
chr3	35690233	rs1513476	C	T	768.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.42;SOR=4.003;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1513476;dbSNPBuildID=88;ANN=T|downstream_gene_variant|MODIFIER|ARPP21|ARPP21|transcript|NM_001267616.1|protein_coding||c.*6204C>T|||||4346|,T|downstream_gene_variant|MODIFIER|ARPP21|ARPP21|transcript|NM_001267618.1|protein_coding||c.*6204C>T|||||4346|,T|downstream_gene_variant|MODIFIER|ARPP21|ARPP21|transcript|NM_001025068.1|protein_coding||c.*6204C>T|||||4346|,T|downstream_gene_variant|MODIFIER|ARPP21|ARPP21|transcript|NM_001025069.1|protein_coding||c.*6204C>T|||||4346|,T|downstream_gene_variant|MODIFIER|ARPP21|ARPP21|transcript|NM_198399.1|protein_coding||c.*6204C>T|||||4346|,T|intron_variant|MODIFIER|ARPP21|ARPP21|transcript|NM_001267619.1|protein_coding|7/18|c.545+93C>T||||||,T|intron_variant|MODIFIER|ARPP21|ARPP21|transcript|NM_001267617.1|protein_coding|8/18|c.545+93C>T||||||,T|intron_variant|MODIFIER|ARPP21|ARPP21|transcript|NM_016300.4|protein_coding|8/19|c.545+93C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4182;p3_1000G_AF=0.835064;p3_1000G_AFR_AF=0.8956;p3_1000G_AMR_AF=0.8285;p3_1000G_AN=5008;p3_1000G_DP=18286;p3_1000G_EAS_AF=0.8641;p3_1000G_EUR_AF=0.6909;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=35731725;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,23:23:69:797,69,0
chr3	36482913	rs2290530	C	T	955.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.8;SOR=6.518;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2290530;dbSNPBuildID=100;ANN=T|intron_variant|MODIFIER|STAC|STAC|transcript|NM_003149.2|protein_coding|2/10|c.389-79C>T||||||,T|intron_variant|MODIFIER|STAC|STAC|transcript|NM_001292049.1|protein_coding|2/8|c.389-3221C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=728;p3_1000G_AF=0.145367;p3_1000G_AFR_AF=0.0855;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=19350;p3_1000G_EAS_AF=0.3145;p3_1000G_EUR_AF=0.1064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36524405;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:984,75,0
chr3	36493130	rs3217654	CTCTT	C	361.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.82;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.083;SOR=0.922;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3217654;dbSNPBuildID=106;ANN=C|intron_variant|MODIFIER|STAC|STAC|transcript|NM_003149.2|protein_coding|5/10|c.688-16_688-13delTCTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|STAC|STAC|transcript|NM_001292049.1|protein_coding|3/8|c.505-16_505-13delTCTT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=721;p3_1000G_AF=0.14397;p3_1000G_AFR_AF=0.0855;p3_1000G_AMR_AF=0.1801;p3_1000G_AN=5008;p3_1000G_DP=20973;p3_1000G_EAS_AF=0.3075;p3_1000G_EUR_AF=0.1064;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36534622;p3_1000G_GRCH37_REF=CTCTT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=INDEL;ESP6500_AA_AC=491,3775;ESP6500_AA_GTC=34,423,1676;ESP6500_CDS_SIZES=NM_003149.1:1209;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_106;ESP6500_DP=84;ESP6500_EA_AC=706,7548;ESP6500_EA_GTC=38,630,3459;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003149.1:intron;ESP6500_GL=STAC;ESP6500_GRCh38_POSITION=3:36493130;ESP6500_GTC=72,1053,5135;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003149.1:c.688-20_688-17del4;ESP6500_MAF=8.5534,11.5096,9.5607;ESP6500_TAC=1197,11323	GT:AD:DP:GQ:PL	0/1:21,11:32:99:399,0,1213
chr3	36504248	rs12637657	C	A	302.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.54;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.18;ReadPosRankSum=1.32;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12637657;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|STAC|STAC|transcript|NM_003149.2|protein_coding|6/10|c.767-145C>A||||||,A|intron_variant|MODIFIER|STAC|STAC|transcript|NM_001292049.1|protein_coding|4/8|c.584-145C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=723;p3_1000G_AF=0.144369;p3_1000G_AFR_AF=0.0877;p3_1000G_AMR_AF=0.1816;p3_1000G_AN=5008;p3_1000G_DP=21969;p3_1000G_EAS_AF=0.3056;p3_1000G_EUR_AF=0.1064;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36545740;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0675;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,9:15:99:331,0,187
chr3	36855162	rs9818599	G	C	1698.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=47;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.95;SOR=2.16;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9818599;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|13/23|c.4549+11C>G||||||,C|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|12/22|c.4417+11C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4990;p3_1000G_AF=0.996406;p3_1000G_AFR_AF=0.9887;p3_1000G_AMR_AF=0.9957;p3_1000G_AN=5008;p3_1000G_DP=19300;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36896653;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3865,23;ESP6500_AA_GTC=1922,21,1;ESP6500_CDS_SIZES=NM_014831.2:8778;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=40;ESP6500_EA_AC=8305,1;ESP6500_EA_GTC=4152,1,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014831.2:intron;ESP6500_GL=TRANK1;ESP6500_GRCh38_POSITION=3:36855162;ESP6500_GTC=6074,22,1;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014831.2:c.4417+11C>G;ESP6500_MAF=0.012,0.5916,0.1968;ESP6500_TAC=12170,24	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1727,141,0
chr3	36856321	rs11712950	T	C	1730.77	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=0.167;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=3.707;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=32.05;ReadPosRankSum=-0.596;SOR=0.782;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11712950;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|13/24|c.3401A>G|p.Glu1134Gly|3649/10616|3401/8910|1134/2969||,C|missense_variant|MODERATE|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|12/23|c.3269A>G|p.Glu1090Gly|3517/10484|3269/8778|1090/2925||;p3_1000G_AA=T|||;p3_1000G_AC=1407;p3_1000G_AF=0.28095;p3_1000G_AFR_AF=0.093;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=21575;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.2604;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36897812;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=455,3557;ESP6500_AA_GTC=34,387,1585;ESP6500_CDS_SIZES=NM_014831.2:8778;ESP6500_CG=-0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=21;ESP6500_EA_AC=2044,6258;ESP6500_EA_GTC=282,1480,2389;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014831.2:missense;ESP6500_GL=TRANK1;ESP6500_GRCh38_POSITION=3:36856321;ESP6500_GS=98;ESP6500_GTC=316,1867,3974;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014831.2:c.3269A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014831.2:p.(E1090G);ESP6500_MAF=24.6206,11.341,20.294;ESP6500_PH=benign:0.076;ESP6500_TAC=2499,9815	GT:AD:DP:GQ:PL	1/1:1,53:54:99:1759,122,0
chr3	36858102	rs7619089	C	T	921.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.81;SOR=1.473;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7619089;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|12/23|c.1673-53G>A||||||,T|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|11/22|c.1541-53G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1987;p3_1000G_AF=0.396765;p3_1000G_AFR_AF=0.5098;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=19376;p3_1000G_EAS_AF=0.5595;p3_1000G_EUR_AF=0.2624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36899593;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:950,96,0
chr3	36874033	rs4510338	T	C	566.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.49;SOR=3.5;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4510338;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|9/23|c.1078+93A>G||||||,C|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|8/22|c.946+93A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1991;p3_1000G_AF=0.397564;p3_1000G_AFR_AF=0.5234;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=15961;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.2515;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36915524;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2904;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:53:595,53,0
chr3	36874323	rs4296548	T	G	821.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.24;SOR=2.494;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4296548;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|8/23|c.908-27A>C||||||,G|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|7/22|c.776-27A>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3159;p3_1000G_AF=0.630791;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.6268;p3_1000G_AN=5008;p3_1000G_DP=19077;p3_1000G_EAS_AF=0.622;p3_1000G_EUR_AF=0.6183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36915814;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5245;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,24:24:72:850,72,0
chr3	36892852	rs60833390;rs796247698	CAT	C	20.74	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=2;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=10.37;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs5847939,rs60833390;dbSNPBuildID=146,129;ANN=C|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|6/23|c.636+47_636+48delAT||||||,C|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|5/22|c.504+47_504+48delAT||||||	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0
chr3	36893043	rs9832646	G	C	612.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.18;SOR=0.784;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9832646;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|5/23|c.553-59C>G||||||,C|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|4/22|c.421-59C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1943;p3_1000G_AF=0.387979;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=11351;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.2525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36934534;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=620,764;ESP6500_AA_GTC=136,348,208;ESP6500_CDS_SIZES=NM_014831.2:8778;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=34;ESP6500_EA_AC=805,2373;ESP6500_EA_GTC=100,605,884;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014831.2:intron;ESP6500_GL=TRANK1;ESP6500_GRCh38_POSITION=3:36893043;ESP6500_GTC=236,953,1092;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_014831.2:c.421-59C>G;ESP6500_MAF=25.3304,44.7977,31.2363;ESP6500_TAC=1425,3137	GT:AD:DP:GQ:PL	1/1:0,21:21:63:641,63,0
chr3	36895615	rs11129741	G	A	1183.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.18;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11129741;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|5/23|c.552+25C>T||||||,A|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|4/22|c.420+25C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=1942;p3_1000G_AF=0.38778;p3_1000G_AFR_AF=0.4834;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=17866;p3_1000G_EAS_AF=0.5565;p3_1000G_EUR_AF=0.2525;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36937106;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2914;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=621,763;ESP6500_AA_GTC=137,347,208;ESP6500_CDS_SIZES=NM_014831.2:8778;ESP6500_CG=-5.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=98;ESP6500_EA_AC=810,2372;ESP6500_EA_GTC=100,610,881;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014831.2:intron;ESP6500_GL=TRANK1;ESP6500_GRCh38_POSITION=3:36895615;ESP6500_GTC=237,957,1089;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014831.2:c.420+25C>T;ESP6500_MAF=25.4557,44.8699,31.3403;ESP6500_TAC=1431,3135	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1212,126,0
chr3	36899250	rs9864910	G	T	584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9864910;dbSNPBuildID=119;ANN=T|synonymous_variant|LOW|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|4/24|c.292C>A|p.Arg98Arg|540/10616|292/8910|98/2969||,T|synonymous_variant|LOW|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|3/23|c.160C>A|p.Arg54Arg|408/10484|160/8778|54/2925||;p3_1000G_AA=G|||;p3_1000G_AC=1735;p3_1000G_AF=0.346446;p3_1000G_AFR_AF=0.3517;p3_1000G_AMR_AF=0.2709;p3_1000G_AN=5008;p3_1000G_DP=20450;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.2376;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36940741;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2894;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:613,57,0
chr3	36908471	rs6805239	G	T	811.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.22;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6805239;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_001329998.1|protein_coding|1/23|c.24-17C>A||||||,T|intron_variant|MODIFIER|TRANK1|TRANK1|transcript|NM_014831.2|protein_coding|1/22|c.24-5196C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1746;p3_1000G_AF=0.348642;p3_1000G_AFR_AF=0.3631;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=19121;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.2366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=36949962;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2863;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,26:26:78:1|1:36908463_A_G:840,78,0
chr3	36990442	rs753948044	TA	T	61.5	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.792;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.465;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=T|3_prime_UTR_variant|MODIFIER|EPM2AIP1|EPM2AIP1|transcript|NM_014805.3|protein_coding|1/1|c.*811delT|||||811|,T|upstream_gene_variant|MODIFIER|MLH1|MLH1|transcript|NM_000249.3|protein_coding||c.-3105delA|||||2907|,T|upstream_gene_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258271.1|protein_coding||c.-3105delA|||||2907|,T|upstream_gene_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258273.1|protein_coding||c.-24035delA|||||2907|,T|upstream_gene_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167617.1|protein_coding||c.-10594delA|||||3334|,T|upstream_gene_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167618.1|protein_coding||c.-24035delA|||||3334|,T|upstream_gene_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167619.1|protein_coding||c.-24035delA|||||3334|,T|upstream_gene_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258274.1|protein_coding||c.-24035delA|||||3334|	GT:AD:DP:GQ:PL	0/1:1,6:7:3:97,0,3
chr3	36995825	rs112161721	GT	G	44.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.484;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0;SOR=1.492;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs112161721;dbSNPBuildID=132;ANN=G|upstream_gene_variant|MODIFIER|EPM2AIP1|EPM2AIP1|transcript|NM_014805.3|protein_coding||c.-2749delA|||||2522|,G|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_000249.3|protein_coding|1/18|c.117-779delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258271.1|protein_coding|1/16|c.117-779delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258273.1|protein_coding|1/17|c.-517+2177delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167617.1|protein_coding|1/18|c.-173-779delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167618.1|protein_coding|1/18|c.-602-784delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167619.1|protein_coding|1/17|c.-515-779delT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258274.1|protein_coding|1/19|c.-752-779delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(HR);p3_1000G_AC=105;p3_1000G_AF=0.0209665;p3_1000G_AFR_AF=0.0666;p3_1000G_AMR_AF=0.0086;p3_1000G_AN=5008;p3_1000G_DP=17031;p3_1000G_EAS_AF=0;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37037316;p3_1000G_GRCH37_REF=GT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0082;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:3,4:7:54:82,0,54
chr3	37002998	rs1540354;90152	A	T	2068.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.14;SOR=0.721;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1540354;dbSNPBuildID=88;ANN=T|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_000249.3|protein_coding|3/18|c.307-1403A>T||||||,T|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258271.1|protein_coding|3/16|c.307-1403A>T||||||,T|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258273.1|protein_coding|2/17|c.-417-1403A>T||||||,T|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167617.1|protein_coding|3/18|c.13-1403A>T||||||,T|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167618.1|protein_coding|3/18|c.-417-1403A>T||||||,T|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001167619.1|protein_coding|3/17|c.-325-1403A>T||||||,T|intron_variant|MODIFIER|MLH1|MLH1|transcript|NM_001258274.1|protein_coding|4/19|c.-417-1403A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=936;p3_1000G_AF=0.186901;p3_1000G_AFR_AF=0.0045;p3_1000G_AMR_AF=0.196;p3_1000G_AN=5008;p3_1000G_DP=18658;p3_1000G_EAS_AF=0.3165;p3_1000G_EUR_AF=0.164;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37044489;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.1869;CLINVAR_ALLELEID=95626;CLINVAR_CLNDISDB=MedGen:C1333990,Orphanet:ORPHA144,SNOMED_CT:315058005;CLINVAR_CLNDN=Lynch_syndrome;CLINVAR_CLNHGVS=NC_000003.12:g.37002998A>T;CLINVAR_CLNREVSTAT=reviewed_by_expert_panel;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=International_Society_for_Gastrointestinal_Hereditary_Tumours_(InSiGHT):c.307-1403A>T;CLINVAR_GENEINFO=MLH1:4292;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1540354	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2097,213,0
chr3	37058876	rs139151890	C	T	751.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.143;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.1;SOR=0.76;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs139151890;dbSNPBuildID=134;ANN=T|missense_variant|MODERATE|LRRFIP2|LRRFIP2|transcript|NM_006309.3|protein_coding|25/28|c.1784G>A|p.Arg595Gln|1906/3513|1784/2166|595/721||,T|missense_variant|MODERATE|LRRFIP2|LRRFIP2|transcript|NM_001282691.1|protein_coding|16/19|c.1130G>A|p.Arg377Gln|1305/2912|1130/1512|377/503||,T|missense_variant|MODERATE|LRRFIP2|LRRFIP2|transcript|NM_001134369.2|protein_coding|12/15|c.893G>A|p.Arg298Gln|1316/2923|893/1275|298/424||,T|missense_variant|MODERATE|LRRFIP2|LRRFIP2|transcript|NM_017724.2|protein_coding|11/14|c.821G>A|p.Arg274Gln|1244/2851|821/1203|274/400||;p3_1000G_AA=C|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18650;p3_1000G_EAS_AF=0.002;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37100367;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=5,4401;ESP6500_AA_AGE=9.9+/-24.2;ESP6500_AA_GTC=0,5,2198;ESP6500_CDS_SIZES=NM_017724.2:1203,NM_006309.2:2166,NM_001134369.1:1275;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_134;ESP6500_DP=128;ESP6500_EA_AC=1,8599;ESP6500_EA_AGE=1.2+/-3.3;ESP6500_EA_GTC=0,1,4299;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017724.2:missense,NM_006309.2:missense,NM_001134369.1:missense;ESP6500_GL=LRRFIP2;ESP6500_GRCh38_POSITION=3:37058876;ESP6500_GS=43,43,43;ESP6500_GTC=0,6,6497;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017724.2:c.821G>A,NM_006309.2:c.1784G>A,NM_001134369.1:c.893G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017724.2:p.(R274Q),NM_006309.2:p.(R595Q),NM_001134369.1:p.(R298Q);ESP6500_MAF=0.0116,0.1135,0.0461;ESP6500_PH=benign:0.376,benign:0.376,benign:0.376;ESP6500_TAC=6,13000	GT:AD:DP:GQ:PL	0/1:25,33:58:99:780,0,601
chr3	37121548	rs336595	G	A	4319.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=145;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30;SOR=0.971;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs336595;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|LRRFIP2|LRRFIP2|transcript|NM_006309.3|protein_coding|5/27|c.286-12C>T||||||,A|intron_variant|MODIFIER|LRRFIP2|LRRFIP2|transcript|NM_001282691.1|protein_coding|5/18|c.235-12C>T||||||,A|intron_variant|MODIFIER|LRRFIP2|LRRFIP2|transcript|NM_001134369.2|protein_coding|4/14|c.177+7515C>T||||||,A|intron_variant|MODIFIER|LRRFIP2|LRRFIP2|transcript|NM_017724.2|protein_coding|4/13|c.177+7515C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4998;p3_1000G_AF=0.998003;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=18714;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37163039;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4392,14;ESP6500_AA_AGE=22.3+/-47.3;ESP6500_AA_GTC=2189,14,0;ESP6500_CDS_SIZES=NM_017724.2:1203,NM_006309.2:2166,NM_001134369.1:1275;ESP6500_CG=5.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=84;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017724.2:intron,NM_006309.2:intron,NM_001134369.1:intron;ESP6500_GL=LRRFIP2;ESP6500_GRCh38_POSITION=3:37121548;ESP6500_GTC=6489,14,0;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017724.2:c.177+7515C>T,NM_006309.2:c.286-12C>T,NM_001134369.1:c.177+7515C>T;ESP6500_MAF=0.0,0.3177,0.1076;ESP6500_TAC=12992,14	GT:AD:DP:GQ:PL	1/1:0,144:144:99:4348,432,0
chr3	37471155	rs11713408;rs79749932	T	C	1116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.846;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.07;ReadPosRankSum=1.45;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11713408;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|2/27|c.313+21T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2768;p3_1000G_AF=0.552716;p3_1000G_AFR_AF=0.5129;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=17709;p3_1000G_EAS_AF=0.4732;p3_1000G_EUR_AF=0.665;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37512646;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5746;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2237,2169;ESP6500_AA_GTC=671,895,637;ESP6500_CDS_SIZES=NM_002207.2:3108;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=103;ESP6500_EA_AC=5437,3163;ESP6500_EA_GTC=1917,1603,780;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002207.2:intron;ESP6500_GL=ITGA9;ESP6500_GRCh38_POSITION=3:37471155;ESP6500_GTC=2588,2498,1417;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_002207.2:c.313+21T>C;ESP6500_MAF=36.7791,49.2283,40.9965;ESP6500_TAC=7674,5332	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,29:53:99:0|1:37471155_T_C:1145,0,1320
chr3	37471156	rs11709385	G	C	1116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.138;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.07;ReadPosRankSum=1.49;SOR=0.627;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11709385;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|2/27|c.313+22G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2765;p3_1000G_AF=0.552117;p3_1000G_AFR_AF=0.5129;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=17834;p3_1000G_EAS_AF=0.4722;p3_1000G_EUR_AF=0.665;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37512647;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5726;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2253,2153;ESP6500_AA_GTC=671,911,621;ESP6500_CDS_SIZES=NM_002207.2:3108;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=102;ESP6500_EA_AC=5464,3136;ESP6500_EA_GTC=1916,1632,752;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002207.2:intron;ESP6500_GL=ITGA9;ESP6500_GRCh38_POSITION=3:37471156;ESP6500_GTC=2587,2543,1373;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002207.2:c.313+22G>C;ESP6500_MAF=36.4651,48.8652,40.6658;ESP6500_TAC=7717,5289	GT:AD:DP:GQ:PGT:PID:PL	0/1:24,29:53:99:0|1:37471155_T_C:1145,0,1320
chr3	37494374	rs472893	T	C	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.22;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs472893;dbSNPBuildID=83;ANN=C|sequence_feature|LOW|ITGA9|ITGA9|repeat:FG-GAP_3|NM_002207.2|protein_coding|4/27|c.545-127T>C||||||,C|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|4/27|c.545-127T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3142;p3_1000G_AF=0.627396;p3_1000G_AFR_AF=0.5144;p3_1000G_AMR_AF=0.7061;p3_1000G_AN=5008;p3_1000G_DP=17303;p3_1000G_EAS_AF=0.8423;p3_1000G_EUR_AF=0.5427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37535865;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.59;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:37494374_T_C:630,42,0
chr3	37494375	rs539108	G	A	601.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.85;SOR=5.421;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs539108;dbSNPBuildID=119;ANN=A|sequence_feature|LOW|ITGA9|ITGA9|repeat:FG-GAP_3|NM_002207.2|protein_coding|4/27|c.545-126G>A||||||,A|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|4/27|c.545-126G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2546;p3_1000G_AF=0.508387;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=17316;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.5258;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37535866;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.364;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,14:14:42:1|1:37494374_T_C:630,42,0
chr3	37494493	rs2507940;402987	C	G	1330.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.27;SOR=0.902;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2507940;dbSNPBuildID=100;ANN=G|splice_region_variant&intron_variant|LOW|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|4/27|c.545-8C>G||||||,G|sequence_feature|LOW|ITGA9|ITGA9|repeat:FG-GAP_3|NM_002207.2|protein_coding|4/27|c.545-8C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2668;p3_1000G_AF=0.532748;p3_1000G_AFR_AF=0.3722;p3_1000G_AMR_AF=0.6758;p3_1000G_AN=5008;p3_1000G_DP=18543;p3_1000G_EAS_AF=0.7917;p3_1000G_EUR_AF=0.5358;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37535984;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3783;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1803,2603;ESP6500_AA_AGE=519.8+/-370.1;ESP6500_AA_GTC=375,1053,775;ESP6500_CDS_SIZES=NM_002207.2:3108;ESP6500_CG=2.5;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=108;ESP6500_EA_AC=4966,3634;ESP6500_EA_AGE=609.5+/-395.5;ESP6500_EA_GTC=1443,2080,777;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002207.2:intron;ESP6500_GL=ITGA9;ESP6500_GRCh38_POSITION=3:37494493;ESP6500_GTC=1818,3133,1552;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_002207.2:c.545-8C>G;ESP6500_MAF=42.2558,40.9215,47.9548;ESP6500_TAC=6769,6237;CLINVAR_ALLELEID=389600;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.37494493C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ITGA9:3680;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2507940	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1359,120,0
chr3	37503061	rs189114130	A	G	69.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.64;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs189114130;dbSNPBuildID=135;ANN=G|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|5/27|c.613-117A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=22689;p3_1000G_EAS_AF=0.004;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37544552;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,3:10:98:98,0,216
chr3	37519106	rs185568	C	T	166.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.38;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs17815094;dbSNPBuildID=79;ANN=T|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|10/27|c.1142-154C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2216;p3_1000G_AF=0.442492;p3_1000G_AFR_AF=0.3729;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=14000;p3_1000G_EAS_AF=0.5317;p3_1000G_EUR_AF=0.4155;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37560597;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:195,15,0
chr3	37533460	rs267561;402989	G	A	2675.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=85;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.48;SOR=1.967;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs267561;dbSNPBuildID=79;ANN=A|missense_variant|MODERATE|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|14/28|c.1520G>A|p.Gly507Glu|1573/3962|1520/3108|507/1035||;p3_1000G_AA=G|||;p3_1000G_AC=2800;p3_1000G_AF=0.559105;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=21440;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.5427;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37574951;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2077,2329;ESP6500_AA_AGE=570.8+/-382.9;ESP6500_AA_GTC=493,1091,619;ESP6500_CDS_SIZES=NM_002207.2:3108;ESP6500_CG=5.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=61;ESP6500_EA_AC=4991,3609;ESP6500_EA_AGE=624.8+/-397.6;ESP6500_EA_GTC=1455,2081,764;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_002207.2:missense;ESP6500_GL=ITGA9;ESP6500_GRCh38_POSITION=3:37533460;ESP6500_GS=98;ESP6500_GTC=1948,3172,1383;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002207.2:c.1520G>A;ESP6500_HGVS_PROTEIN_VAR=NM_002207.2:p.(G507E);ESP6500_MAF=41.9651,47.1403,45.6559;ESP6500_PH=possibly-damaging:0.529;ESP6500_TAC=7068,5938;CLINVAR_ALLELEID=389568;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.37533460G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ITGA9:3680;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=267561	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2704,255,0
chr3	37533548	rs267560	G	A	716.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.13;SOR=3.816;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs267560;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|14/27|c.1528+80G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2800;p3_1000G_AF=0.559105;p3_1000G_AFR_AF=0.4486;p3_1000G_AMR_AF=0.6844;p3_1000G_AN=5008;p3_1000G_DP=21477;p3_1000G_EAS_AF=0.8046;p3_1000G_EUR_AF=0.5427;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37575039;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:745,63,0
chr3	37629385	rs2282485;496845	G	C	806.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.87;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=1.108;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.692;SOR=1.004;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2282485;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|16/27|c.1839+49G>C||||||;p3_1000G_AA=g|||;p3_1000G_AC=912;p3_1000G_AF=0.182109;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.1628;p3_1000G_AN=5008;p3_1000G_DP=19019;p3_1000G_EAS_AF=0.2272;p3_1000G_EUR_AF=0.2207;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37670876;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1759;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=604,3802;ESP6500_AA_AGE=254.0+/-259.7;ESP6500_AA_GTC=35,534,1634;ESP6500_CDS_SIZES=NM_002207.2:3108;ESP6500_CG=-4.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=25;ESP6500_EA_AC=1678,6922;ESP6500_EA_AGE=290.7+/-299.9;ESP6500_EA_GTC=163,1352,2785;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002207.2:intron;ESP6500_GL=ITGA9;ESP6500_GRCh38_POSITION=3:37629385;ESP6500_GTC=198,1886,4419;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_002207.2:c.1839+49G>C;ESP6500_MAF=19.5116,13.7086,17.5457;ESP6500_TAC=2282,10724;CLINVAR_ALLELEID=488269;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.37629385G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ITGA9:3680;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2282485	GT:AD:DP:GQ:PL	0/1:32,28:60:99:835,0,901
chr3	37629494	rs147632699	GATAAA	G	359.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.265;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=0.109;SOR=1.329;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs147632699;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|16/27|c.1839+164_1839+168delATAAA||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=900;p3_1000G_AF=0.179712;p3_1000G_AFR_AF=0.1316;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=21684;p3_1000G_EAS_AF=0.2202;p3_1000G_EUR_AF=0.2217;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37670985;p3_1000G_GRCH37_REF=GATAAA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1738;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:6,10:16:99:397,0,381
chr3	37653701	rs3821909	G	A	831.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.504;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.198;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=1.22;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3821909;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|16/27|c.1840-13G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1323;p3_1000G_AF=0.264177;p3_1000G_AFR_AF=0.4236;p3_1000G_AMR_AF=0.1931;p3_1000G_AN=5008;p3_1000G_DP=20806;p3_1000G_EAS_AF=0.2212;p3_1000G_EUR_AF=0.2316;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37695192;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1769;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1663,2743;ESP6500_AA_AGE=508.3+/-366.9;ESP6500_AA_GTC=308,1047,848;ESP6500_CDS_SIZES=NM_002207.2:3108;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=139;ESP6500_EA_AC=1791,6809;ESP6500_EA_AGE=322.5+/-315.6;ESP6500_EA_GTC=198,1395,2707;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_002207.2:intron;ESP6500_GL=ITGA9;ESP6500_GRCh38_POSITION=3:37653701;ESP6500_GTC=506,2442,3555;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_002207.2:c.1840-13G>A;ESP6500_MAF=20.8256,37.744,26.557;ESP6500_TAC=3454,9552	GT:AD:DP:GQ:PGT:PID:PL	0/1:27,33:60:99:0|1:37653701_G_A:860,0,755
chr3	37684089	rs4282019	A	C	98.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.82;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=-0.861;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4282019;dbSNPBuildID=126;ANN=C|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|18/27|c.2067+74A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=835;p3_1000G_AF=0.166733;p3_1000G_AFR_AF=0.1483;p3_1000G_AMR_AF=0.085;p3_1000G_AN=5008;p3_1000G_DP=22012;p3_1000G_EAS_AF=0.2133;p3_1000G_EUR_AF=0.1193;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37725580;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2505;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,4:14:99:127,0,272
chr3	37736987	rs200249844	A	AG	359.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.582;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-1.295;SOR=0.551;INS;HET;VARTYPE=INS;dbSNP138_ID=rs200249844;dbSNPBuildID=137;ANN=AG|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|20/27|c.2234+12dupG||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=GGGGGG|GGGGGGGG|GGGGGGGGG|cryptic_indel;p3_1000G_AC=71;p3_1000G_AF=0.0141773;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20493;p3_1000G_EAS_AF=0.0665;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=37778478;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:17,18:35:99:397,0,403
chr3	37818782	.	C	A	20.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-0.712;SOR=1.802;SNP;HET;VARTYPE=SNP;ANN=A|intron_variant|MODIFIER|ITGA9|ITGA9|transcript|NM_002207.2|protein_coding|27/27|c.3010-109C>A||||||,A|intron_variant|MODIFIER|ITGA9-AS1|ITGA9-AS1|transcript|NR_110531.1|pseudogene|3/3|n.256+2232G>T||||||,A|intron_variant|MODIFIER|ITGA9-AS1|ITGA9-AS1|transcript|NR_110532.1|pseudogene|4/5|n.325+2232G>T||||||	GT:AD:DP:GQ:PL	0/1:5,2:7:49:49,0,118
chr3	38039461	rs7625806	T	G	772.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.322;ClippingRankSum=0;DP=66;ExcessHet=3.0103;FS=4.729;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.068;SOR=0.553;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7625806;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|1/36|c.236T>G|p.Leu79Arg|257/5494|236/5337|79/1778||,G|missense_variant|MODERATE|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|1/37|c.236T>G|p.Leu79Arg|257/5627|236/5277|79/1758||,G|missense_variant|MODERATE|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|1/37|c.236T>G|p.Leu79Arg|257/5618|236/5268|79/1755||;p3_1000G_AA=G|||;p3_1000G_AC=2258;p3_1000G_AF=0.450879;p3_1000G_AFR_AF=0.5658;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=18071;p3_1000G_EAS_AF=0.6062;p3_1000G_EUR_AF=0.3429;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38080952;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2761;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2107,1909;ESP6500_AA_GTC=567,973,468;ESP6500_CDS_SIZES=NM_007337.2:5337,NM_007335.2:5268;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=39;ESP6500_EA_AC=2839,5501;ESP6500_EA_GTC=509,1821,1840;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_007337.2:missense,NM_007335.2:missense;ESP6500_GL=DLEC1;ESP6500_GRCh38_POSITION=3:38039461;ESP6500_GS=102,102;ESP6500_GTC=1076,2794,2308;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_007337.2:c.236T>G,NM_007335.2:c.236T>G;ESP6500_HGVS_PROTEIN_VAR=NM_007337.2:p.(L79R),NM_007335.2:p.(L79R);ESP6500_MAF=34.0408,47.5349,40.0291;ESP6500_PH=benign:0.006,benign:0.006;ESP6500_TAC=4946,7410	GT:AD:DP:GQ:PL	0/1:32,34:66:99:801,0,774
chr3	38039540	rs7616776	A	T	912.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.388;ClippingRankSum=0;DP=63;ExcessHet=3.0103;FS=3.445;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.528;SOR=0.381;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7616776;dbSNPBuildID=116;ANN=T|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|1/36|c.315A>T|p.Ser105Ser|336/5494|315/5337|105/1778||,T|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|1/37|c.315A>T|p.Ser105Ser|336/5627|315/5277|105/1758||,T|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|1/37|c.315A>T|p.Ser105Ser|336/5618|315/5268|105/1755||;p3_1000G_AA=g|||;p3_1000G_AC=1715;p3_1000G_AF=0.342452;p3_1000G_AFR_AF=0.2927;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=19111;p3_1000G_EAS_AF=0.5546;p3_1000G_EUR_AF=0.3032;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38081031;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2311;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1240,2908;ESP6500_AA_GTC=182,876,1016;ESP6500_CDS_SIZES=NM_007337.2:5337,NM_007335.2:5268;ESP6500_CG=-6.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=58;ESP6500_EA_AC=2475,5941;ESP6500_EA_GTC=387,1701,2120;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007337.2:coding-synonymous,NM_007335.2:coding-synonymous;ESP6500_GL=DLEC1;ESP6500_GRCh38_POSITION=3:38039540;ESP6500_GTC=569,2577,3136;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_007337.2:c.315A>T,NM_007335.2:c.315A>T;ESP6500_HGVS_PROTEIN_VAR=NM_007337.2:p.(S105),NM_007335.2:p.(S105);ESP6500_MAF=29.4083,29.8939,29.5686;ESP6500_TAC=3715,8849	GT:AD:DP:GQ:PL	0/1:26,37:63:99:941,0,671
chr3	38062862	rs3752614	G	A	173.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.72;ReadPosRankSum=-1.242;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3752614;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|5/35|c.1094+61G>A||||||,A|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|5/36|c.1094+61G>A||||||,A|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|5/36|c.1094+61G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1729;p3_1000G_AF=0.345248;p3_1000G_AFR_AF=0.2958;p3_1000G_AMR_AF=0.3703;p3_1000G_AN=5008;p3_1000G_DP=17717;p3_1000G_EAS_AF=0.5575;p3_1000G_EUR_AF=0.2972;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38104353;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,6:8:59:202,0,59
chr3	38084100	rs7632139	C	T	730.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.777;SOR=0.844;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7632139;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|6/35|c.1174-58C>T||||||,T|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|6/36|c.1174-58C>T||||||,T|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|6/36|c.1174-58C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=788;p3_1000G_AF=0.157348;p3_1000G_AFR_AF=0.2481;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=5599;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38125591;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1012;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:23,28:51:99:759,0,536
chr3	38084214	rs7652276	G	A	1132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.276;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=1.798;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.615;SOR=0.822;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7652276;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|7/36|c.1230G>A|p.Pro410Pro|1251/5494|1230/5337|410/1778||,A|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|7/37|c.1230G>A|p.Pro410Pro|1251/5627|1230/5277|410/1758||,A|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|7/37|c.1230G>A|p.Pro410Pro|1251/5618|1230/5268|410/1755||;p3_1000G_AA=g|||;p3_1000G_AC=1880;p3_1000G_AF=0.375399;p3_1000G_AFR_AF=0.4145;p3_1000G_AMR_AF=0.3818;p3_1000G_AN=5008;p3_1000G_DP=25644;p3_1000G_EAS_AF=0.5387;p3_1000G_EUR_AF=0.3012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38125705;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.226;p3_1000G_VT=SNP;ESP6500_AA_AC=1644,2520;ESP6500_AA_GTC=332,980,770;ESP6500_CDS_SIZES=NM_007337.2:5337,NM_007335.2:5268;ESP6500_CG=-10.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=117;ESP6500_EA_AC=2535,5901;ESP6500_EA_GTC=412,1711,2095;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007337.2:coding-synonymous,NM_007335.2:coding-synonymous;ESP6500_GL=DLEC1;ESP6500_GRCh38_POSITION=3:38084214;ESP6500_GTC=744,2691,2865;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_007337.2:c.1230G>A,NM_007335.2:c.1230G>A;ESP6500_HGVS_PROTEIN_VAR=NM_007337.2:p.(P410),NM_007335.2:p.(P410);ESP6500_MAF=30.0498,39.4813,33.1667;ESP6500_TAC=4179,8421	GT:AD:DP:GQ:PL	0/1:35,48:83:99:1161,0,870
chr3	38084353	rs62240733	G	A	442.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.588;ClippingRankSum=0;DP=24;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=-0.586;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62240733;dbSNPBuildID=129;ANN=A|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|7/35|c.1261+108G>A||||||,A|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|7/36|c.1261+108G>A||||||,A|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|7/36|c.1261+108G>A||||||	GT:AD:DP:GQ:PL	0/1:10,14:24:99:471,0,335
chr3	38092947	rs11129778	A	G	453.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.91;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11129778;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|11/35|c.1756+67A>G||||||,G|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|11/36|c.1756+67A>G||||||,G|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|11/36|c.1756+67A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4768;p3_1000G_AF=0.952077;p3_1000G_AFR_AF=0.9932;p3_1000G_AMR_AF=0.9524;p3_1000G_AN=5008;p3_1000G_DP=14703;p3_1000G_EAS_AF=0.9306;p3_1000G_EUR_AF=0.9254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38134438;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9458;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1361,23;ESP6500_AA_GTC=669,23,0;ESP6500_CDS_SIZES=NM_007337.2:5337,NM_007335.2:5268;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=49;ESP6500_EA_AC=2911,271;ESP6500_EA_GTC=1335,241,15;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007337.2:intron,NM_007335.2:intron;ESP6500_GL=DLEC1;ESP6500_GRCh38_POSITION=3:38092947;ESP6500_GTC=2004,264,15;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_007337.2:c.1756+67A>G,NM_007335.2:c.1756+67A>G;ESP6500_MAF=8.5167,1.6618,6.4389;ESP6500_TAC=4272,294	GT:AD:DP:GQ:PL	1/1:0,13:13:39:482,39,0
chr3	38096491	rs28559718	C	T	705.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.3;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=3.575;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.928;SOR=1.633;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28559718;dbSNPBuildID=125;ANN=T|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|14/35|c.2172-78C>T||||||,T|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|14/36|c.2172-78C>T||||||,T|intron_variant|MODIFIER|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|14/36|c.2172-78C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=776;p3_1000G_AF=0.154952;p3_1000G_AFR_AF=0.2405;p3_1000G_AMR_AF=0.1037;p3_1000G_AN=5008;p3_1000G_DP=19776;p3_1000G_EAS_AF=0.2262;p3_1000G_EUR_AF=0.0626;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38137982;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,25:46:99:734,0,499
chr3	38110240	rs12630114	T	C	718.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.872;ClippingRankSum=0;DP=57;ExcessHet=3.0103;FS=2.277;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.162;SOR=1.106;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12630114;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_007337.3|protein_coding|23/36|c.3402T>C|p.Tyr1134Tyr|3423/5494|3402/5337|1134/1778||,C|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_001321153.1|protein_coding|23/37|c.3411T>C|p.Tyr1137Tyr|3432/5627|3411/5277|1137/1758||,C|synonymous_variant|LOW|DLEC1|DLEC1|transcript|NM_007335.3|protein_coding|23/37|c.3402T>C|p.Tyr1134Tyr|3423/5618|3402/5268|1134/1755||;p3_1000G_AA=C|||;p3_1000G_AC=2292;p3_1000G_AF=0.457668;p3_1000G_AFR_AF=0.5673;p3_1000G_AMR_AF=0.451;p3_1000G_AN=5008;p3_1000G_DP=18060;p3_1000G_EAS_AF=0.6131;p3_1000G_EUR_AF=0.3628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38151731;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2515;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2082,1840;ESP6500_AA_GTC=556,970,435;ESP6500_CDS_SIZES=NM_007337.2:5337,NM_007335.2:5268;ESP6500_CG=4.2;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=105;ESP6500_EA_AC=3052,5276;ESP6500_EA_GTC=592,1868,1704;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_007337.2:coding-synonymous,NM_007335.2:coding-synonymous;ESP6500_GL=DLEC1;ESP6500_GRCh38_POSITION=3:38110240;ESP6500_GTC=1148,2838,2139;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_007337.2:c.3402T>C,NM_007335.2:c.3402T>C;ESP6500_HGVS_PROTEIN_VAR=NM_007337.2:p.(Y1134),NM_007335.2:p.(Y1134);ESP6500_MAF=36.6475,46.9148,41.9102;ESP6500_TAC=5134,7116	GT:AD:DP:GQ:PL	0/1:29,28:57:99:747,0,769
chr3	38131475	rs73827609	G	A	61.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.594;ClippingRankSum=0;DP=10;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=0.674;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|ACAA1|ACAA1|transcript|NM_001607.3|protein_coding|5/11|c.446+121C>T||||||,A|intron_variant|MODIFIER|ACAA1|ACAA1|transcript|NM_001130410.1|protein_coding|5/9|c.446+121C>T||||||,A|intron_variant|MODIFIER|ACAA1|ACAA1|transcript|NR_024024.1|pseudogene|4/9|n.610+451C>T||||||	GT:AD:DP:GQ:PL	0/1:6,4:10:90:90,0,158
chr3	38307252	rs753331	A	C	2039.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=65;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=1.249;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs753331;dbSNPBuildID=86;ANN=C|splice_acceptor_variant&intron_variant|HIGH|SLC22A14|SLC22A14|transcript|NM_001320033.1|protein_coding|2/10|c.517-2A>C||||||,C|splice_acceptor_variant&intron_variant|HIGH|SLC22A14|SLC22A14|transcript|NM_004803.4|protein_coding|1/9|c.517-2A>C||||||;LOF=(SLC22A14|SLC22A14|2|1.00);p3_1000G_AA=A|||;p3_1000G_AC=299;p3_1000G_AF=0.0597045;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=21109;p3_1000G_EAS_AF=0.2629;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38348743;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=6,4400;ESP6500_AA_AGE=11.4+/-27.6;ESP6500_AA_GTC=0,6,2197;ESP6500_CDS_SIZES=NM_004803.3:1785;ESP6500_CG=4.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=116;ESP6500_EA_AC=2,8598;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=0,2,4298;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004803.3:splice-3;ESP6500_GL=SLC22A14;ESP6500_GRCh38_POSITION=3:38307252;ESP6500_GTC=0,8,6495;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_004803.3:c.517-2A>C;ESP6500_MAF=0.0233,0.1362,0.0615;ESP6500_TAC=8,12998	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2068,195,0
chr3	38307458	rs818823	G	T	894.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.41;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs818823;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|SLC22A14|SLC22A14|transcript|NM_001320033.1|protein_coding|3/10|c.620+101G>T||||||,T|intron_variant|MODIFIER|SLC22A14|SLC22A14|transcript|NM_004803.4|protein_coding|2/9|c.620+101G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1750;p3_1000G_AF=0.349441;p3_1000G_AFR_AF=0.3192;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=16672;p3_1000G_EAS_AF=0.5645;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38348949;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2035;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,26:26:78:923,78,0
chr3	38308988	rs818819	T	C	1658.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.9;SOR=1.358;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs818819;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|SLC22A14|SLC22A14|transcript|NM_001320033.1|protein_coding|5/11|c.810T>C|p.His270His|856/2157|810/1785|270/594||,C|synonymous_variant|LOW|SLC22A14|SLC22A14|transcript|NM_004803.4|protein_coding|4/10|c.810T>C|p.His270His|901/2202|810/1785|270/594||;p3_1000G_AA=C|||;p3_1000G_AC=4136;p3_1000G_AF=0.825879;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=20352;p3_1000G_EAS_AF=0.7649;p3_1000G_EUR_AF=0.8708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38350479;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3669,737;ESP6500_AA_AGE=306.0+/-289.3;ESP6500_AA_GTC=1532,605,66;ESP6500_CDS_SIZES=NM_004803.3:1785;ESP6500_CG=-10.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=197;ESP6500_EA_AC=7597,1003;ESP6500_EA_AGE=217.0+/-255.8;ESP6500_EA_GTC=3362,873,65;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004803.3:coding-synonymous;ESP6500_GL=SLC22A14;ESP6500_GRCh38_POSITION=3:38308988;ESP6500_GTC=4894,1478,131;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004803.3:c.810T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004803.3:p.(H270);ESP6500_MAF=11.6628,16.7272,13.3784;ESP6500_TAC=11266,1740	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1687,156,0
chr3	38309028	rs818818	G	A	1740.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=55;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.65;SOR=0.884;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs818818;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|SLC22A14|SLC22A14|transcript|NM_001320033.1|protein_coding|5/11|c.850G>A|p.Val284Met|896/2157|850/1785|284/594||,A|missense_variant|MODERATE|SLC22A14|SLC22A14|transcript|NM_004803.4|protein_coding|4/10|c.850G>A|p.Val284Met|941/2202|850/1785|284/594||;p3_1000G_AA=A|||;p3_1000G_AC=4134;p3_1000G_AF=0.825479;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=20334;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.8708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38350519;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8384;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3669,737;ESP6500_AA_AGE=306.0+/-289.3;ESP6500_AA_GTC=1532,605,66;ESP6500_CDS_SIZES=NM_004803.3:1785;ESP6500_CG=-10.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=188;ESP6500_EA_AC=7595,1005;ESP6500_EA_AGE=217.3+/-256.0;ESP6500_EA_GTC=3360,875,65;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004803.3:missense;ESP6500_GL=SLC22A14;ESP6500_GRCh38_POSITION=3:38309028;ESP6500_GS=21;ESP6500_GTC=4892,1480,131;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_004803.3:c.850G>A;ESP6500_HGVS_PROTEIN_VAR=NM_004803.3:p.(V284M);ESP6500_MAF=11.686,16.7272,13.3938;ESP6500_PH=benign:0.004;ESP6500_TAC=11264,1742	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1769,165,0
chr3	38309052	rs818817	A	G	1827.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.64;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs818817;dbSNPBuildID=86;ANN=G|missense_variant|MODERATE|SLC22A14|SLC22A14|transcript|NM_001320033.1|protein_coding|5/11|c.874A>G|p.Ser292Gly|920/2157|874/1785|292/594||,G|missense_variant|MODERATE|SLC22A14|SLC22A14|transcript|NM_004803.4|protein_coding|4/10|c.874A>G|p.Ser292Gly|965/2202|874/1785|292/594||;p3_1000G_AA=A|||;p3_1000G_AC=4188;p3_1000G_AF=0.836262;p3_1000G_AFR_AF=0.8911;p3_1000G_AMR_AF=0.8069;p3_1000G_AN=5008;p3_1000G_DP=20381;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.8559;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38350543;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8374;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3834,572;ESP6500_AA_AGE=772.6+/-413.9;ESP6500_AA_GTC=1668,498,37;ESP6500_CDS_SIZES=NM_004803.3:1785;ESP6500_CG=1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=143;ESP6500_EA_AC=7530,1070;ESP6500_EA_AGE=769.6+/-407.6;ESP6500_EA_GTC=3306,918,76;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004803.3:missense;ESP6500_GL=SLC22A14;ESP6500_GRCh38_POSITION=3:38309052;ESP6500_GS=56;ESP6500_GTC=4974,1416,113;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004803.3:c.874A>G;ESP6500_HGVS_PROTEIN_VAR=NM_004803.3:p.(S292G);ESP6500_MAF=12.4419,12.9823,12.6249;ESP6500_PH=benign:0.001;ESP6500_TAC=11364,1642	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1856,168,0
chr3	38309139	rs704929	C	A	1268.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.39;SOR=1.67;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs704929;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|SLC22A14|SLC22A14|transcript|NM_001320033.1|protein_coding|5/10|c.944+17C>A||||||,A|intron_variant|MODIFIER|SLC22A14|SLC22A14|transcript|NM_004803.4|protein_coding|4/9|c.944+17C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4135;p3_1000G_AF=0.825679;p3_1000G_AFR_AF=0.8389;p3_1000G_AMR_AF=0.8055;p3_1000G_AN=5008;p3_1000G_DP=20431;p3_1000G_EAS_AF=0.7639;p3_1000G_EUR_AF=0.8708;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38350630;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8395;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3669,737;ESP6500_AA_AGE=305.8+/-289.2;ESP6500_AA_GTC=1532,605,66;ESP6500_CDS_SIZES=NM_004803.3:1785;ESP6500_CG=-8.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=81;ESP6500_EA_AC=7595,1005;ESP6500_EA_AGE=217.3+/-256.0;ESP6500_EA_GTC=3360,875,65;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004803.3:intron;ESP6500_GL=SLC22A14;ESP6500_GRCh38_POSITION=3:38309139;ESP6500_GTC=4892,1480,131;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_004803.3:c.944+17C>A;ESP6500_MAF=11.686,16.7272,13.3938;ESP6500_TAC=11264,1742	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1297,114,0
chr3	38313685	rs11268633	T	TGTGTGTGTGTGCGCGCGCGC	1165.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.18;SOR=4.294;INS;HOM;VARTYPE=INS;dbSNPBuildID=135;ANN=TGTGTGTGTGTGCGCGCGCGC|intron_variant|MODIFIER|SLC22A14|SLC22A14|transcript|NM_001320033.1|protein_coding|7/10|c.1164-41_1164-40insTGTGTGTGTGCGCGCGCGCG||||||INFO_REALIGN_3_PRIME,TGTGTGTGTGTGCGCGCGCGC|intron_variant|MODIFIER|SLC22A14|SLC22A14|transcript|NM_004803.4|protein_coding|6/9|c.1164-41_1164-40insTGTGTGTGTGCGCGCGCGCG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,17:17:80:1203,80,0
chr3	38348529	rs2615631	C	A	1945.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.38;SOR=1.43;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2615631;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|1/18|c.58-21C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4736;p3_1000G_AF=0.945687;p3_1000G_AFR_AF=0.8094;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=21248;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.998;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38390020;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3748,658;ESP6500_AA_AGE=281.6+/-276.1;ESP6500_AA_GTC=1597,554,52;ESP6500_CDS_SIZES=NM_005108.3:1611;ESP6500_CG=-7.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=138;ESP6500_EA_AC=8590,10;ESP6500_EA_AGE=7.7+/-29.5;ESP6500_EA_GTC=4290,10,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005108.3:intron;ESP6500_GL=XYLB;ESP6500_GRCh38_POSITION=3:38348529;ESP6500_GTC=5887,564,52;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_005108.3:c.58-21C>A;ESP6500_MAF=0.1163,14.9342,5.1361;ESP6500_TAC=12338,668	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,62:62:99:1|1:38348529_C_A:1974,186,0
chr3	38360348	rs818850	T	C	1600.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.8;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs818850;dbSNPBuildID=86;ANN=C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_17-A_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_18-A_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_17-B_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_18-B_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_17-C_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_18-C_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_17-A_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_18-A_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_17-B_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_18-B_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_17-C_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_18-C_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_17-A_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_18-A_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_17-B_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_18-B_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_17-C_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_18-C_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_17-A_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_18-A_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_17-B_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_18-B_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_17-C_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_18-C_50:NM_005108.3|protein_coding|3/19|c.150T>C||||||,C|synonymous_variant|LOW|XYLB|XYLB|transcript|NM_005108.3|protein_coding|3/19|c.150T>C|p.Gly50Gly|259/3683|150/1611|50/536||;p3_1000G_AA=C|||;p3_1000G_AC=4824;p3_1000G_AF=0.963259;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=21095;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38401839;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3953,453;ESP6500_AA_AGE=218.7+/-236.7;ESP6500_AA_GTC=1772,409,22;ESP6500_CDS_SIZES=NM_005108.3:1611;ESP6500_CG=-8.8;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=206;ESP6500_EA_AC=8590,10;ESP6500_EA_AGE=7.7+/-29.5;ESP6500_EA_GTC=4290,10,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005108.3:coding-synonymous;ESP6500_GL=XYLB;ESP6500_GRCh38_POSITION=3:38360348;ESP6500_GTC=6062,419,22;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005108.3:c.150T>C;ESP6500_HGVS_PROTEIN_VAR=NM_005108.3:p.(G50);ESP6500_MAF=0.1163,10.2814,3.5599;ESP6500_TAC=12543,463	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1629,138,0
chr3	38360427	rs818849	A	G	1584.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.02;SOR=0.776;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs818849;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|3/18|c.210+19A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4515;p3_1000G_AF=0.901558;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=21439;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38401918;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3410,996;ESP6500_AA_AGE=374.9+/-321.4;ESP6500_AA_GTC=1325,760,118;ESP6500_CDS_SIZES=NM_005108.3:1611;ESP6500_CG=0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=167;ESP6500_EA_AC=8073,527;ESP6500_EA_AGE=147.6+/-202.9;ESP6500_EA_GTC=3792,489,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005108.3:intron;ESP6500_GL=XYLB;ESP6500_GRCh38_POSITION=3:38360427;ESP6500_GTC=5117,1249,137;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_005108.3:c.210+19A>G;ESP6500_MAF=6.1279,22.6055,11.71;ESP6500_TAC=11483,1523	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1613,144,0
chr3	38360516	rs818848	T	A	861.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.92;SOR=3.18;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs818848;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|3/18|c.210+108T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4515;p3_1000G_AF=0.901558;p3_1000G_AFR_AF=0.7133;p3_1000G_AMR_AF=0.9438;p3_1000G_AN=5008;p3_1000G_DP=19724;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38402007;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,27:27:81:890,81,0
chr3	38360536	rs861767	G	A	738.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.58;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs861767;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|3/18|c.210+128G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4824;p3_1000G_AF=0.963259;p3_1000G_AFR_AF=0.8729;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=19914;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.997;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38402027;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.999;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:767,66,0
chr3	38365157	rs704942	T	C	874.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.24;SOR=1.382;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs704942;dbSNPBuildID=86;ANN=C|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|4/18|c.292-42T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4666;p3_1000G_AF=0.931709;p3_1000G_AFR_AF=0.8306;p3_1000G_AMR_AF=0.9539;p3_1000G_AN=5008;p3_1000G_DP=19408;p3_1000G_EAS_AF=0.995;p3_1000G_EUR_AF=0.9423;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38406648;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3830,576;ESP6500_AA_AGE=258.0+/-262.2;ESP6500_AA_GTC=1675,480,48;ESP6500_CDS_SIZES=NM_005108.3:1611;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=63;ESP6500_EA_AC=8079,521;ESP6500_EA_AGE=146.5+/-202.0;ESP6500_EA_GTC=3800,479,21;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005108.3:intron;ESP6500_GL=XYLB;ESP6500_GRCh38_POSITION=3:38365157;ESP6500_GTC=5475,959,69;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_005108.3:c.292-42T>C;ESP6500_MAF=6.0581,13.0731,8.4346;ESP6500_TAC=11909,1097	GT:AD:DP:GQ:PL	1/1:0,28:28:84:903,84,0
chr3	38365282	rs704943	G	T	1154.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.21;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs704943;dbSNPBuildID=86;ANN=T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_104-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_125-A_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_66-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_69-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_104-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_125-B_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_66-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_69-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_104-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_125-C_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_66-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_69-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_125-A_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_66-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_69-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_125-B_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_66-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_69-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_125-C_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_66-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_69-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_104-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_125-A_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_66-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_69-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_125-B_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_66-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_69-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_125-C_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_66-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_69-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_104-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_125-A_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_66-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_69-A_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_104-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_125-B_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_66-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_69-B_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_104-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_125-C_203:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_66-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_69-C_125:NM_005108.3|protein_coding|5/19|c.375G>T||||||,T|synonymous_variant|LOW|XYLB|XYLB|transcript|NM_005108.3|protein_coding|5/19|c.375G>T|p.Leu125Leu|484/3683|375/1611|125/536||;p3_1000G_AA=G|||;p3_1000G_AC=4490;p3_1000G_AF=0.896565;p3_1000G_AFR_AF=0.702;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=20809;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38406773;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9755;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3352,1054;ESP6500_AA_AGE=723.7+/-409.4;ESP6500_AA_GTC=1285,782,136;ESP6500_CDS_SIZES=NM_005108.3:1611;ESP6500_CG=-0.5;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=76;ESP6500_EA_AC=8071,529;ESP6500_EA_AGE=795.7+/-407.5;ESP6500_EA_GTC=3791,489,20;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005108.3:coding-synonymous;ESP6500_GL=XYLB;ESP6500_GRCh38_POSITION=3:38365282;ESP6500_GTC=5076,1271,156;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_005108.3:c.375G>T;ESP6500_HGVS_PROTEIN_VAR=NM_005108.3:p.(L125);ESP6500_MAF=6.1512,23.9219,12.1713;ESP6500_TAC=11423,1583	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1183,111,0
chr3	38366757	rs704946	G	A	511.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.99;SOR=2.049;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs704946;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|6/18|c.508-51G>A||||||;p3_1000G_AA=a|||;p3_1000G_AC=4497;p3_1000G_AF=0.897963;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=16965;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38408248;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA_AC=3401,1005;ESP6500_AA_AGE=362.4+/-316.1;ESP6500_AA_GTC=1320,761,122;ESP6500_CDS_SIZES=NM_005108.3:1611;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=37;ESP6500_EA_AC=8072,528;ESP6500_EA_AGE=144.5+/-200.4;ESP6500_EA_GTC=3791,490,19;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005108.3:intron;ESP6500_GL=XYLB;ESP6500_GRCh38_POSITION=3:38366757;ESP6500_GTC=5111,1251,141;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005108.3:c.508-51G>A;ESP6500_MAF=6.1395,22.8098,11.7869;ESP6500_TAC=11473,1533	GT:AD:DP:GQ:PL	1/1:0,16:16:48:540,48,0
chr3	38366870	rs843890	G	A	970.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.42;SOR=0.752;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs843890;dbSNPBuildID=86;ANN=A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_103-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_104-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_105-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_130-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:A_190-A_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_103-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_104-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_105-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_130-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:B_190-B_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_103-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_104-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_105-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_130-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC2:C_190-C_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_103-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_104-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_105-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_130-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:A_190-A_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_103-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_104-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_105-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_130-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:B_190-B_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_103-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_104-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_105-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_130-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC3:C_190-C_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_103-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_104-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_105-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_130-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:A_190-A_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_103-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_104-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_105-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_130-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:B_190-B_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_103-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_104-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_105-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_130-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC4:C_190-C_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_103-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_104-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_105-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_130-A_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:A_190-A_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_103-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_104-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_105-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_130-B_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:B_190-B_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_103-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_104-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_105-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_130-C_190:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|structural_interaction_variant|HIGH|XYLB|XYLB|interaction|4BC5:C_190-C_244:NM_005108.3|protein_coding|7/19|c.570G>A||||||,A|synonymous_variant|LOW|XYLB|XYLB|transcript|NM_005108.3|protein_coding|7/19|c.570G>A|p.Thr190Thr|679/3683|570/1611|190/536||,A|sequence_feature|LOW|XYLB|XYLB|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_005108.3|protein_coding|7/19|c.570G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=4496;p3_1000G_AF=0.897764;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=20157;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9414;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38408361;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP;ESP6500_AA_AC=3400,1006;ESP6500_AA_AGE=725.1+/-409.6;ESP6500_AA_GTC=1320,760,123;ESP6500_CDS_SIZES=NM_005108.3:1611;ESP6500_CG=-10.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=79;ESP6500_EA_AC=8071,529;ESP6500_EA_AGE=795.4+/-407.5;ESP6500_EA_GTC=3791,489,20;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005108.3:coding-synonymous;ESP6500_GL=XYLB;ESP6500_GRCh38_POSITION=3:38366870;ESP6500_GTC=5111,1249,143;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_005108.3:c.570G>A;ESP6500_HGVS_PROTEIN_VAR=NM_005108.3:p.(T190);ESP6500_MAF=6.1512,22.8325,11.8022;ESP6500_TAC=11471,1535	GT:AD:DP:GQ:PL	1/1:0,33:33:99:999,99,0
chr3	38366962	rs2234616	G	A	712.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.65;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2234616;dbSNPBuildID=98;ANN=A|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|7/18|c.573+89G>A||||||;p3_1000G_AA=g|||;p3_1000G_AC=405;p3_1000G_AF=0.0808706;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=22929;p3_1000G_EAS_AF=0.25;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38408453;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,18:18:54:1|1:38366962_G_A:741,54,0
chr3	38366968	rs2234617	A	G	652.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.44;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2234617;dbSNPBuildID=98;ANN=G|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|7/18|c.573+95A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=4488;p3_1000G_AF=0.896166;p3_1000G_AFR_AF=0.7005;p3_1000G_AMR_AF=0.9424;p3_1000G_AN=5008;p3_1000G_DP=22965;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38408459;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9744;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,13:13:48:1|1:38366962_G_A:681,48,0
chr3	38368087	rs2234618	C	T	1100.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.4;SOR=2.448;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2234618;dbSNPBuildID=98;ANN=T|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|7/18|c.574-98C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=404;p3_1000G_AF=0.0806709;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.0403;p3_1000G_AN=5008;p3_1000G_DP=20511;p3_1000G_EAS_AF=0.249;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38409578;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.045;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1129,96,0
chr3	38368109	rs704947	T	G	1473.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.95;SOR=2.419;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs704947;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|7/18|c.574-76T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4497;p3_1000G_AF=0.897963;p3_1000G_AFR_AF=0.7073;p3_1000G_AMR_AF=0.9395;p3_1000G_AN=5008;p3_1000G_DP=20532;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9414;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38409600;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9765;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1502,120,0
chr3	38370240	rs150130857	G	GCA	225.75	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.22;SOR=4.407;INS;HOM;VARTYPE=INS;dbSNPBuildID=134;ANN=GCA|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|9/18|c.765+92_765+93dupAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/1:0,8:8:24:263,24,0
chr3	38379217	rs2070987	A	C	1737.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.18;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2070987;dbSNPBuildID=96;ANN=C|intron_variant|MODIFIER|XYLB|XYLB|transcript|NM_005108.3|protein_coding|14/18|c.1195-29A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=281;p3_1000G_AF=0.0561102;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0476;p3_1000G_AN=5008;p3_1000G_DP=22067;p3_1000G_EAS_AF=0.2054;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38420708;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0409;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=9,4397;ESP6500_AA_AGE=16.8+/-37.8;ESP6500_AA_GTC=0,9,2194;ESP6500_CDS_SIZES=NM_005108.3:1611;ESP6500_CG=3.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_96;ESP6500_DP=118;ESP6500_EA_AC=4,8596;ESP6500_EA_AGE=4.3+/-15.6;ESP6500_EA_GTC=0,4,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005108.3:intron;ESP6500_GL=XYLB;ESP6500_GRCh38_POSITION=3:38379217;ESP6500_GTC=0,13,6490;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_005108.3:c.1195-29A>C;ESP6500_MAF=0.0465,0.2043,0.1;ESP6500_TAC=13,12993	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1766,162,0
chr3	38496289	rs147568482	G	C	323.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.53;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs147568482;dbSNPBuildID=134;ANN=C|5_prime_UTR_variant|MODIFIER|EXOG|EXOG|transcript|NM_005107.3|protein_coding|1/6|c.-79G>C|||||79|,C|5_prime_UTR_variant|MODIFIER|EXOG|EXOG|transcript|NM_001145464.1|protein_coding|1/5|c.-79G>C|||||79|,C|5_prime_UTR_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318954.1|protein_coding|1/7|c.-469G>C|||||5173|,C|5_prime_UTR_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318955.1|protein_coding|1/8|c.-567G>C|||||5173|,C|5_prime_UTR_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318956.1|protein_coding|1/7|c.-566G>C|||||5173|,C|5_prime_UTR_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318957.1|protein_coding|1/9|c.-705G>C|||||5173|,C|5_prime_UTR_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318958.1|protein_coding|1/9|c.-623G>C|||||5173|,C|5_prime_UTR_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318959.1|protein_coding|1/8|c.-661G>C|||||5173|,C|downstream_gene_variant|MODIFIER|ACVR2B|ACVR2B|transcript|NM_001106.3|protein_coding||c.*12957G>C|||||3147|,C|non_coding_transcript_exon_variant|MODIFIER|EXOG|EXOG|transcript|NR_134938.1|pseudogene|1/8|n.18G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=305;p3_1000G_AF=0.0609026;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.0865;p3_1000G_AN=5008;p3_1000G_DP=11841;p3_1000G_EAS_AF=0.1964;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38537780;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:352,27,0
chr3	38496975	rs1984312	G	T	596.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.41;SOR=2.948;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1984312;dbSNPBuildID=92;ANN=T|downstream_gene_variant|MODIFIER|ACVR2B|ACVR2B|transcript|NM_001106.3|protein_coding||c.*13643G>T|||||3833|,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_005107.3|protein_coding|1/5|c.163+445G>T||||||,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001145464.1|protein_coding|1/4|c.163+445G>T||||||,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318954.1|protein_coding|1/6|c.-228+445G>T||||||,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318955.1|protein_coding|2/7|c.-239+46G>T||||||,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318956.1|protein_coding|1/6|c.-325+445G>T||||||,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318957.1|protein_coding|1/8|c.-464+445G>T||||||,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318958.1|protein_coding|2/8|c.-295+46G>T||||||,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318959.1|protein_coding|2/7|c.-333+46G>T||||||,T|intron_variant|MODIFIER|EXOG|EXOG|transcript|NR_134938.1|pseudogene|1/7|n.259+445G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3110;p3_1000G_AF=0.621006;p3_1000G_AFR_AF=0.823;p3_1000G_AMR_AF=0.5951;p3_1000G_AN=5008;p3_1000G_DP=17990;p3_1000G_EAS_AF=0.7371;p3_1000G_EUR_AF=0.4235;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38538466;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,19:19:57:625,57,0
chr3	38497604	rs398062257;rs75103217	CTTT	C	252.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.32;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=6.264;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=0.493;SOR=2.833;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs75103217;dbSNPBuildID=137,138;ANN=C|downstream_gene_variant|MODIFIER|ACVR2B|ACVR2B|transcript|NM_001106.3|protein_coding||c.*14273_*14275delTTT|||||4463|,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_005107.3|protein_coding|1/5|c.164-12_164-10delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001145464.1|protein_coding|1/4|c.163+1087_163+1089delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318954.1|protein_coding|1/6|c.-227-12_-227-10delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318955.1|protein_coding|2/7|c.-238-12_-238-10delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318956.1|protein_coding|1/6|c.-324-12_-324-10delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318957.1|protein_coding|1/8|c.-463-12_-463-10delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318958.1|protein_coding|2/8|c.-294-12_-294-10delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318959.1|protein_coding|2/7|c.-332-12_-332-10delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|EXOG|EXOG|transcript|NR_134938.1|pseudogene|1/7|n.260-12_260-10delTTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:4,8:12:31:290,0,31
chr3	38499050	rs2300668	A	G	1144.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.69;SOR=2.517;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2300668;dbSNPBuildID=100;ANN=G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_005107.3|protein_coding|2/5|c.313+1272A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001145464.1|protein_coding|1/4|c.164-2305A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318954.1|protein_coding|3/6|c.-108+61A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318955.1|protein_coding|4/7|c.-108+214A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318956.1|protein_coding|2/6|c.-174-631A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318957.1|protein_coding|3/8|c.-250+61A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318958.1|protein_coding|4/8|c.-175+61A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318959.1|protein_coding|3/7|c.-182-1040A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NR_134938.1|pseudogene|2/7|n.315+1366A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3124;p3_1000G_AF=0.623802;p3_1000G_AFR_AF=0.7943;p3_1000G_AMR_AF=0.6671;p3_1000G_AN=5008;p3_1000G_DP=20170;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.4245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38540541;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1173,99,0
chr3	38499827	rs2300669	C	A	1123.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.37;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2300669;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_005107.3|protein_coding|2/5|c.314-1528C>A||||||,A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001145464.1|protein_coding|1/4|c.164-1528C>A||||||,A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318954.1|protein_coding|3/6|c.-108+838C>A||||||,A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318955.1|protein_coding|4/7|c.-108+991C>A||||||,A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318956.1|protein_coding|3/6|c.-108+80C>A||||||,A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318957.1|protein_coding|4/8|c.-183+80C>A||||||,A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318958.1|protein_coding|5/8|c.-108+80C>A||||||,A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318959.1|protein_coding|3/7|c.-182-263C>A||||||,A|intron_variant|MODIFIER|EXOG|EXOG|transcript|NR_134938.1|pseudogene|2/7|n.316-1528C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2431;p3_1000G_AF=0.485423;p3_1000G_AFR_AF=0.5666;p3_1000G_AMR_AF=0.4971;p3_1000G_AN=5008;p3_1000G_DP=20310;p3_1000G_EAS_AF=0.5556;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38541318;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3937;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1152,111,0
chr3	38499961	rs9877282	A	G	821.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.87;SOR=1.893;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9877282;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_005107.3|protein_coding|2/5|c.314-1394A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001145464.1|protein_coding|1/4|c.164-1394A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318954.1|protein_coding|3/6|c.-108+972A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318955.1|protein_coding|4/7|c.-108+1125A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318956.1|protein_coding|3/6|c.-108+214A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318957.1|protein_coding|4/8|c.-182-129A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318958.1|protein_coding|5/8|c.-108+214A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NM_001318959.1|protein_coding|3/7|c.-182-129A>G||||||,G|intron_variant|MODIFIER|EXOG|EXOG|transcript|NR_134938.1|pseudogene|2/7|n.316-1394A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=3312;p3_1000G_AF=0.661342;p3_1000G_AFR_AF=0.9297;p3_1000G_AMR_AF=0.6801;p3_1000G_AN=5008;p3_1000G_DP=20031;p3_1000G_EAS_AF=0.7381;p3_1000G_EUR_AF=0.4245;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38541452;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4499;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,25:25:75:850,75,0
chr3	38548175	rs45592631;345061	T	TCCCTCCTTTTTCCTACTCTCTTCTC	725.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=36.33;SOR=1.739;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs45592631,rs61033757;dbSNPBuildID=127;ANN=TCCCTCCTTTTTCCTACTCTCTTCTC|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|28/28|c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG|||||2145|,TCCCTCCTTTTTCCTACTCTCTTCTC|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|28/28|c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG|||||2145|,TCCCTCCTTTTTCCTACTCTCTTCTC|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|27/27|c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG|||||2145|,TCCCTCCTTTTTCCTACTCTCTTCTC|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|28/28|c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG|||||2145|,TCCCTCCTTTTTCCTACTCTCTTCTC|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|28/28|c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG|||||2145|,TCCCTCCTTTTTCCTACTCTCTTCTC|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|27/27|c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG|||||2145|;p3_1000G_AC=4974;p3_1000G_AF=0.993211;p3_1000G_AFR_AF=0.9977;p3_1000G_AMR_AF=0.9899;p3_1000G_AN=5008;p3_1000G_DP=23276;p3_1000G_EAS_AF=0.999;p3_1000G_EUR_AF=0.9791;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38589666;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=290242;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38548175_38548176insCCCTCCTTTTTCCTACTCTCTTCTC;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Insertion;CLINVAR_CLNVCSO=SO:0000667;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:833787;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=45592631	GT:AD:DP:GQ:PL	1/1:0,17:17:50:763,50,0
chr3	38548867	rs1399973729;rs397763929;rs11414422;345077	C	CT	1155.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=0.756;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs11414422,rs41315487;dbSNPBuildID=151,136;ANN=CT|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|28/28|c.*1453dupA|||||1453|,CT|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|28/28|c.*1453dupA|||||1453|,CT|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|27/27|c.*1453dupA|||||1453|,CT|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|28/28|c.*1453dupA|||||1453|,CT|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|28/28|c.*1453dupA|||||1453|,CT|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|27/27|c.*1453dupA|||||1453|;p3_1000G_AA=T|T|TT|insertion;p3_1000G_AC=1587;p3_1000G_AF=0.316893;p3_1000G_AFR_AF=0.5333;p3_1000G_AMR_AF=0.2291;p3_1000G_AN=5008;p3_1000G_DP=18907;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.0994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38590358;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1524;p3_1000G_VT=INDEL;CLINVAR_ALLELEID=294718;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38548868dupT;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=Duplication;CLINVAR_CLNVCSO=SO:1000035;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:498638;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_ORIGIN=1;CLINVAR_RS=397763929	GT:AD:DP:GQ:PL	1/1:0,31:31:96:1193,96,0
chr3	38549358	rs4073796;345087	G	A	1520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.29;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4073796;dbSNPBuildID=108;ANN=A|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|28/28|c.*963C>T|||||963|,A|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|28/28|c.*963C>T|||||963|,A|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|27/27|c.*963C>T|||||963|,A|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|28/28|c.*963C>T|||||963|,A|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|28/28|c.*963C>T|||||963|,A|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|27/27|c.*963C>T|||||963|;p3_1000G_AA=g|||;p3_1000G_AC=2474;p3_1000G_AF=0.49401;p3_1000G_AFR_AF=0.7148;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=17791;p3_1000G_EAS_AF=0.5754;p3_1000G_EUR_AF=0.3608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38590849;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2965;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.4940;CLINVAR_ALLELEID=290261;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38549358G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32003;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4073796	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:38549358_G_A:1549,105,0
chr3	38549359	rs4073797;345088	A	T	1520.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=35;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.05;SOR=0.869;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4073797;dbSNPBuildID=108;ANN=T|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|28/28|c.*962T>A|||||962|,T|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|28/28|c.*962T>A|||||962|,T|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|27/27|c.*962T>A|||||962|,T|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|28/28|c.*962T>A|||||962|,T|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|28/28|c.*962T>A|||||962|,T|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|27/27|c.*962T>A|||||962|;p3_1000G_AA=T|||;p3_1000G_AC=2463;p3_1000G_AF=0.491813;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=17941;p3_1000G_EAS_AF=0.5724;p3_1000G_EUR_AF=0.3608;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38590850;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2924;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.4918;CLINVAR_ALLELEID=294324;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38549359A>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32033;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4073797	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,35:35:99:1|1:38549358_G_A:1549,105,0
chr3	38550198	rs7429945;345108	T	C	1162.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=37;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.43;SOR=1.121;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7429945;dbSNPBuildID=116;ANN=C|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|28/28|c.*123A>G|||||123|,C|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|28/28|c.*123A>G|||||123|,C|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|27/27|c.*123A>G|||||123|,C|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|28/28|c.*123A>G|||||123|,C|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|28/28|c.*123A>G|||||123|,C|3_prime_UTR_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|27/27|c.*123A>G|||||123|;p3_1000G_AA=C|||;p3_1000G_AC=2476;p3_1000G_AF=0.494409;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=14157;p3_1000G_EAS_AF=0.5764;p3_1000G_EUR_AF=0.3658;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38591689;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2975;p3_1000G_VT=SNP;CLINVAR_AF_TGP=0.4944;CLINVAR_ALLELEID=294382;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38550198T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32043;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001624|3_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7429945	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1191,111,0
chr3	38550915	rs1805126;48307	A	G	2950.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=95;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.06;SOR=0.714;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1805126;dbSNPBuildID=89;ANN=G|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|28/28|c.5457T>C|p.Asp1819Asp|5651/8504|5457/6051|1819/2016||,G|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|28/28|c.5454T>C|p.Asp1818Asp|5648/8501|5454/6048|1818/2015||,G|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|27/27|c.5403T>C|p.Asp1801Asp|5597/8450|5403/5997|1801/1998||,G|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|28/28|c.5457T>C|p.Asp1819Asp|5651/8504|5457/6051|1819/2016||,G|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|28/28|c.5358T>C|p.Asp1786Asp|5553/8406|5358/5952|1786/1983||,G|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|27/27|c.5295T>C|p.Asp1765Asp|5490/8343|5295/5889|1765/1962||;p3_1000G_AA=A|||;p3_1000G_AC=2466;p3_1000G_AF=0.492412;p3_1000G_AFR_AF=0.7042;p3_1000G_AMR_AF=0.4265;p3_1000G_AN=5008;p3_1000G_DP=20365;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.3648;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38592406;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2955;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2694,1612;ESP6500_AA_GTC=858,978,317;ESP6500_CDS_SIZES=NM_198056.2:6051,NM_001160161.1:5889,NM_001160160.1:5952,NM_001099405.1:5997,NM_001099404.1:6051,NM_000335.4:6048;ESP6500_CG=-8.1;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=63;ESP6500_EA_AC=2850,5694;ESP6500_EA_GTC=489,1872,1911;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198056.2:coding-synonymous,NM_001160161.1:coding-synonymous,NM_001160160.1:coding-synonymous,NM_001099405.1:coding-synonymous,NM_001099404.1:coding-synonymous,NM_000335.4:coding-synonymous;ESP6500_GL=SCN5A;ESP6500_GRCh38_POSITION=3:38550915;ESP6500_GTC=1347,2850,2228;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_198056.2:c.5457T>C,NM_001160161.1:c.5295T>C,NM_001160160.1:c.5358T>C,NM_001099405.1:c.5403T>C,NM_001099404.1:c.5457T>C,NM_000335.4:c.5454T>C;ESP6500_HGVS_PROTEIN_VAR=NM_198056.2:p.(D1819),NM_001160161.1:p.(D1765),NM_001160160.1:p.(D1786),NM_001099405.1:p.(D1801),NM_001099404.1:p.(D1819),NM_000335.4:p.(D1818);ESP6500_MAF=33.3567,37.4361,43.144;ESP6500_TAC=5544,7306;CLINVAR_AF_ESP=0.4314;CLINVAR_AF_EXAC=0.38781;CLINVAR_AF_TGP=0.4924;CLINVAR_ALLELEID=57470;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38550915A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32071;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1805126	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2979,284,0
chr3	38551639	rs151227746	G	GGT	68.25	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.75;SOR=2.833;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs151227746;dbSNPBuildID=134;ANN=GGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|27/27|c.4814-82_4814-81insAC||||||,GGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|27/27|c.4811-82_4811-81insAC||||||,GGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|26/26|c.4760-82_4760-81insAC||||||,GGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|27/27|c.4814-82_4814-81insAC||||||,GGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|27/27|c.4715-82_4715-81insAC||||||,GGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|26/26|c.4652-82_4652-81insAC||||||;p3_1000G_AC=303;p3_1000G_AF=0.0605032;p3_1000G_AFR_AF=0.0068;p3_1000G_AMR_AF=0.0807;p3_1000G_AN=5008;p3_1000G_DP=12471;p3_1000G_EAS_AF=0.2024;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38593130;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,3:3:9:105,9,0
chr3	38555854	rs9825620	A	G	338.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=12;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.23;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9825620;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|25/27|c.4438-94T>C||||||,G|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|25/27|c.4435-94T>C||||||,G|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|24/26|c.4384-94T>C||||||,G|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|25/27|c.4438-94T>C||||||,G|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|25/27|c.4435-94T>C||||||,G|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|24/26|c.4276-94T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=384;p3_1000G_AF=0.0766773;p3_1000G_AFR_AF=0.0598;p3_1000G_AMR_AF=0.0879;p3_1000G_AN=5008;p3_1000G_DP=18414;p3_1000G_EAS_AF=0.2073;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38597345;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0358;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,12:12:36:367,36,0
chr3	38580976	rs7430407;48297	T	C	1690.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.51;SOR=0.818;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7430407;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|17/28|c.3183A>G|p.Glu1061Glu|3377/8504|3183/6051|1061/2016||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|17/28|c.3183A>G|p.Glu1061Glu|3377/8501|3183/6048|1061/2015||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|17/27|c.3183A>G|p.Glu1061Glu|3377/8450|3183/5997|1061/1998||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|17/28|c.3183A>G|p.Glu1061Glu|3377/8504|3183/6051|1061/2016||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|17/28|c.3183A>G|p.Glu1061Glu|3378/8406|3183/5952|1061/1983||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|17/27|c.3183A>G|p.Glu1061Glu|3378/8343|3183/5889|1061/1962||;p3_1000G_AA=C|||;p3_1000G_AC=4623;p3_1000G_AF=0.923123;p3_1000G_AFR_AF=0.8661;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=16991;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=0.9085;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38622467;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9438;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3815,477;ESP6500_AA_GTC=1692,431,23;ESP6500_CDS_SIZES=NM_198056.2:6051,NM_001160161.1:5889,NM_001160160.1:5952,NM_001099405.1:5997,NM_001099404.1:6051,NM_000335.4:6048;ESP6500_CG=1.0;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=7502,994;ESP6500_EA_GTC=3316,870,62;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198056.2:coding-synonymous,NM_001160161.1:coding-synonymous,NM_001160160.1:coding-synonymous,NM_001099405.1:coding-synonymous,NM_001099404.1:coding-synonymous,NM_000335.4:coding-synonymous;ESP6500_GL=SCN5A;ESP6500_GRCh38_POSITION=3:38580976;ESP6500_GTC=5008,1301,85;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198056.2:c.3183A>G,NM_001160161.1:c.3183A>G,NM_001160160.1:c.3183A>G,NM_001099405.1:c.3183A>G,NM_001099404.1:c.3183A>G,NM_000335.4:c.3183A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198056.2:p.(E1061),NM_001160161.1:p.(E1061),NM_001160160.1:p.(E1061),NM_001099405.1:p.(E1061),NM_001099404.1:p.(E1061),NM_000335.4:p.(E1061);ESP6500_MAF=11.6996,11.1137,11.503;ESP6500_TAC=11317,1471;CLINVAR_ALLELEID=57460;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38580976T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32056;CLINVAR_GENEINFO=SCN5A:6331|LOC110121269:110121269;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7430407	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1719,147,0
chr3	38585662	rs144423561	G	GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	1411.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=33.3;SOR=2.215;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs144423561;dbSNPBuildID=134;ANN=GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|16/27|c.2787+28_2787+29insACACACACACACACACACACACACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|16/27|c.2787+28_2787+29insACACACACACACACACACACACACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|16/26|c.2787+28_2787+29insACACACACACACACACACACACACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|16/27|c.2787+28_2787+29insACACACACACACACACACACACACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|16/27|c.2787+28_2787+29insACACACACACACACACACACACACACAC||||||,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|16/26|c.2787+28_2787+29insACACACACACACACACACACACACACAC||||||;p3_1000G_AC=1802;p3_1000G_AF=0.359824;p3_1000G_AFR_AF=0.1929;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=21067;p3_1000G_EAS_AF=0.4554;p3_1000G_EUR_AF=0.4394;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38627153;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3753;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,14:14:97:1257,97,0
chr3	38603929	rs1805124;48289	T	C	710.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.96;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.659;SOR=0.643;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1805124;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|12/28|c.1673A>G|p.His558Arg|1867/8504|1673/6051|558/2016||,C|missense_variant|MODERATE|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|12/28|c.1673A>G|p.His558Arg|1867/8501|1673/6048|558/2015||,C|missense_variant|MODERATE|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|12/27|c.1673A>G|p.His558Arg|1867/8450|1673/5997|558/1998||,C|missense_variant|MODERATE|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|12/28|c.1673A>G|p.His558Arg|1867/8504|1673/6051|558/2016||,C|missense_variant|MODERATE|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|12/28|c.1673A>G|p.His558Arg|1868/8406|1673/5952|558/1983||,C|missense_variant|MODERATE|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|12/27|c.1673A>G|p.His558Arg|1868/8343|1673/5889|558/1962||;p3_1000G_AA=C|||;p3_1000G_AC=1154;p3_1000G_AF=0.230431;p3_1000G_AFR_AF=0.3094;p3_1000G_AMR_AF=0.2277;p3_1000G_AN=5008;p3_1000G_DP=17254;p3_1000G_EAS_AF=0.1012;p3_1000G_EUR_AF=0.2167;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38645420;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.273;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1151,3037;ESP6500_AA_GTC=156,839,1099;ESP6500_CA=http://www.ncbi.nlm.nih.gov/sites/varvu?gene...6331&amp%3Brs...1805124|http://omim.org/entry/600163#0031;ESP6500_CDS_SIZES=NM_198056.2:6051,NM_001160161.1:5889,NM_001160160.1:5952,NM_001099405.1:5997,NM_001099404.1:6051,NM_000335.4:6048;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=52;ESP6500_EA_AC=1957,6475;ESP6500_EA_GTC=248,1461,2507;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_198056.2:missense,NM_001160161.1:missense,NM_001160160.1:missense,NM_001099405.1:missense,NM_001099404.1:missense,NM_000335.4:missense;ESP6500_GL=SCN5A;ESP6500_GRCh38_POSITION=3:38603929;ESP6500_GS=29,29,29,29,29,29;ESP6500_GTC=404,2300,3606;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198056.2:c.1673A>G,NM_001160161.1:c.1673A>G,NM_001160160.1:c.1673A>G,NM_001099405.1:c.1673A>G,NM_001099404.1:c.1673A>G,NM_000335.4:c.1673A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198056.2:p.(H558R),NM_001160161.1:p.(H558R),NM_001160160.1:p.(H558R),NM_001099405.1:p.(H558R),NM_001099404.1:p.(H558R),NM_000335.4:p.(H558R);ESP6500_MAF=23.2092,27.4833,24.6276;ESP6500_PH=benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0,benign:0.0;ESP6500_TAC=3108,9512;CLINVAR_AF_ESP=0.2463;CLINVAR_AF_EXAC=0.22174;CLINVAR_AF_TGP=0.2304;CLINVAR_ALLELEID=38447;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202;CLINVAR_CLNDISDBINCL=MedGen:C1879286,OMIM:113900;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided;CLINVAR_CLNDNINCL=Progressive_familial_heart_block_type_1A;CLINVAR_CLNHGVS=NC_000003.12:g.38603929T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNSIGINCL=440849:Pathogenic;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32066|OMIM_Allelic_Variant:600163.0031|UniProtKB_(protein):Q14524#VAR_008955;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1805124	GT:AD:DP:GQ:PL	0/1:29,26:55:99:739,0,720
chr3	38604932	rs7428779;257437	C	T	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.732;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=1.405;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.565;SOR=0.963;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7428779;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|10/27|c.1339-24G>A||||||,T|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|10/27|c.1339-24G>A||||||,T|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|10/26|c.1339-24G>A||||||,T|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|10/27|c.1339-24G>A||||||,T|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|10/27|c.1339-24G>A||||||,T|intron_variant|MODIFIER|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|10/26|c.1339-24G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=877;p3_1000G_AF=0.17512;p3_1000G_AFR_AF=0.1641;p3_1000G_AMR_AF=0.2003;p3_1000G_AN=5008;p3_1000G_DP=20143;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.1889;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38646423;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2382;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=680,3390;ESP6500_AA_GTC=43,594,1398;ESP6500_CDS_SIZES=NM_198056.2:6051,NM_001160161.1:5889,NM_001160160.1:5952,NM_001099405.1:5997,NM_001099404.1:6051,NM_000335.4:6048;ESP6500_CG=-3.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=43;ESP6500_EA_AC=1621,6757;ESP6500_EA_GTC=160,1301,2728;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198056.2:intron,NM_001160161.1:intron,NM_001160160.1:intron,NM_001099405.1:intron,NM_001099404.1:intron,NM_000335.4:intron;ESP6500_GL=SCN5A;ESP6500_GRCh38_POSITION=3:38604932;ESP6500_GTC=203,1895,4126;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_198056.2:c.1339-24G>A,NM_001160161.1:c.1339-24G>A,NM_001160160.1:c.1339-24G>A,NM_001099405.1:c.1339-24G>A,NM_001099404.1:c.1339-24G>A,NM_000335.4:c.1339-24G>A;ESP6500_MAF=19.3483,16.7076,18.4849;ESP6500_TAC=2301,10147;CLINVAR_AF_ESP=0.1849;CLINVAR_AF_EXAC=0.21916;CLINVAR_AF_TGP=0.1751;CLINVAR_ALLELEID=251108;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38604932C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7428779	GT:AD:DP:GQ:PL	0/1:28,16:44:99:373,0,726
chr3	38606151	rs41312433;48280	G	T	423.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.232;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.608;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.54;SOR=0.327;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs41312433;dbSNPBuildID=127;ANN=T|splice_region_variant&intron_variant|LOW|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|9/27|c.1141-3C>A||||||,T|splice_region_variant&intron_variant|LOW|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|9/27|c.1141-3C>A||||||,T|splice_region_variant&intron_variant|LOW|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|9/26|c.1141-3C>A||||||,T|splice_region_variant&intron_variant|LOW|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|9/27|c.1141-3C>A||||||,T|splice_region_variant&intron_variant|LOW|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|9/27|c.1141-3C>A||||||,T|splice_region_variant&intron_variant|LOW|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|9/26|c.1141-3C>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=757;p3_1000G_AF=0.151158;p3_1000G_AFR_AF=0.121;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=20769;p3_1000G_EAS_AF=0.0972;p3_1000G_EUR_AF=0.1799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38647642;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1933;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=489,3369;ESP6500_AA_GTC=27,435,1467;ESP6500_CDS_SIZES=NM_198056.2:6051,NM_001160161.1:5889,NM_001160160.1:5952,NM_001099405.1:5997,NM_001099404.1:6051,NM_000335.4:6048;ESP6500_CG=4.9;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_127;ESP6500_DP=38;ESP6500_EA_AC=1527,6729;ESP6500_EA_GTC=147,1233,2748;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198056.2:intron,NM_001160161.1:intron,NM_001160160.1:intron,NM_001099405.1:intron,NM_001099404.1:intron,NM_000335.4:intron;ESP6500_GL=SCN5A;ESP6500_GRCh38_POSITION=3:38606151;ESP6500_GTC=174,1668,4215;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_198056.2:c.1141-3C>A,NM_001160161.1:c.1141-3C>A,NM_001160160.1:c.1141-3C>A,NM_001099405.1:c.1141-3C>A,NM_001099404.1:c.1141-3C>A,NM_000335.4:c.1141-3C>A;ESP6500_MAF=18.4956,12.675,16.6419;ESP6500_TAC=2016,10098;CLINVAR_AF_ESP=0.1664;CLINVAR_AF_EXAC=0.17223;CLINVAR_AF_TGP=0.1512;CLINVAR_ALLELEID=57444;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38606151G>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32085;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=41312433	GT:AD:DP:GQ:PL	0/1:17,18:35:99:452,0,556
chr3	38633221	rs6599230;48318	T	C	1047.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.74;SOR=0.957;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6599230;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001099404.1|protein_coding|2/28|c.87A>G|p.Ala29Ala|281/8504|87/6051|29/2016||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_000335.4|protein_coding|2/28|c.87A>G|p.Ala29Ala|281/8501|87/6048|29/2015||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001099405.1|protein_coding|2/27|c.87A>G|p.Ala29Ala|281/8450|87/5997|29/1998||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_198056.2|protein_coding|2/28|c.87A>G|p.Ala29Ala|281/8504|87/6051|29/2016||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001160160.1|protein_coding|2/28|c.87A>G|p.Ala29Ala|282/8406|87/5952|29/1983||,C|synonymous_variant|LOW|SCN5A|SCN5A|transcript|NM_001160161.1|protein_coding|2/27|c.87A>G|p.Ala29Ala|282/8343|87/5889|29/1962||;p3_1000G_AA=t|||;p3_1000G_AC=3915;p3_1000G_AF=0.781749;p3_1000G_AFR_AF=0.9228;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=17646;p3_1000G_EAS_AF=0.6677;p3_1000G_EUR_AF=0.7883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38674712;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7464;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3601,421;ESP6500_AA_GTC=1604,393,14;ESP6500_CDS_SIZES=NM_198056.2:6051,NM_001160161.1:5889,NM_001160160.1:5952,NM_001099405.1:5997,NM_001099404.1:6051,NM_000335.4:6048;ESP6500_CG=-9.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=35;ESP6500_EA_AC=6703,1601;ESP6500_EA_GTC=2703,1297,152;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_198056.2:coding-synonymous,NM_001160161.1:coding-synonymous,NM_001160160.1:coding-synonymous,NM_001099405.1:coding-synonymous,NM_001099404.1:coding-synonymous,NM_000335.4:coding-synonymous;ESP6500_GL=SCN5A;ESP6500_GRCh38_POSITION=3:38633221;ESP6500_GTC=4307,1690,166;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_198056.2:c.87A>G,NM_001160161.1:c.87A>G,NM_001160160.1:c.87A>G,NM_001099405.1:c.87A>G,NM_001099404.1:c.87A>G,NM_000335.4:c.87A>G;ESP6500_HGVS_PROTEIN_VAR=NM_198056.2:p.(A29),NM_001160161.1:p.(A29),NM_001160160.1:p.(A29),NM_001099405.1:p.(A29),NM_001099404.1:p.(A29),NM_000335.4:p.(A29);ESP6500_MAF=19.2799,10.4674,16.4043;ESP6500_TAC=10304,2022;CLINVAR_ALLELEID=57481;CLINVAR_CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310;CLINVAR_CLNDN=Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLINVAR_CLNHGVS=NC_000003.12:g.38633221T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign/Likely_benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32091;CLINVAR_GENEINFO=SCN5A:6331;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6599230	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1076,96,0
chr3	38698083	rs6599241;259999	T	C	2568.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=77;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=0.772;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6599241;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|27/27|c.5137A>G|p.Met1713Val|5137/5874|5137/5871|1713/1956||,C|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|27/27|c.5134A>G|p.Met1712Val|5134/5871|5134/5868|1712/1955||,C|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|26/26|c.4843A>G|p.Met1615Val|4843/5580|4843/5577|1615/1858||;p3_1000G_AA=C|||;p3_1000G_AC=5008;p3_1000G_AF=1;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=1;p3_1000G_AN=5008;p3_1000G_DP=22015;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38739574;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;CLINVAR_ALLELEID=251110;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38698083T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6599241	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2597,231,0
chr3	38698173	rs146999807;463263	G	A	1116.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.911;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=2.897;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.54;SOR=0.938;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146999807;dbSNPBuildID=134;ANN=A|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|27/27|c.5047C>T|p.Pro1683Ser|5047/5874|5047/5871|1683/1956||,A|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|27/27|c.5044C>T|p.Pro1682Ser|5044/5871|5044/5868|1682/1955||,A|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|26/26|c.4753C>T|p.Pro1585Ser|4753/5580|4753/5577|1585/1858||;p3_1000G_AA=G|||;p3_1000G_AC=12;p3_1000G_AF=0.00239617;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=19121;p3_1000G_EAS_AF=0.0119;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38739664;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP;CLINVAR_ALLELEID=452264;CLINVAR_CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLINVAR_CLNDN=Brugada_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38698173G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=146999807	GT:AD:DP:GQ:PL	0/1:37,46:83:99:1145,0,1022
chr3	38698354	rs6599242;95404	A	G	3429.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=106;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.36;SOR=0.896;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6599242;dbSNPBuildID=116;ANN=G|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|27/27|c.4866T>C|p.Ser1622Ser|4866/5874|4866/5871|1622/1956||,G|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|27/27|c.4863T>C|p.Ser1621Ser|4863/5871|4863/5868|1621/1955||,G|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|26/26|c.4572T>C|p.Ser1524Ser|4572/5580|4572/5577|1524/1858||;p3_1000G_AA=G|||;p3_1000G_AC=4631;p3_1000G_AF=0.92472;p3_1000G_AFR_AF=0.969;p3_1000G_AMR_AF=0.9121;p3_1000G_AN=5008;p3_1000G_DP=21262;p3_1000G_EAS_AF=0.9514;p3_1000G_EUR_AF=0.9125;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38739845;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8589;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4232,174;ESP6500_AA_AGE=115.0+/-153.0;ESP6500_AA_GTC=2033,166,4;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=174;ESP6500_EA_AC=7870,730;ESP6500_EA_AGE=177.6+/-227.2;ESP6500_EA_GTC=3599,672,29;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006514.2:coding-synonymous;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38698354;ESP6500_GTC=5632,838,33;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.4866T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006514.2:p.(S1622);ESP6500_MAF=8.4884,3.9492,6.9506;ESP6500_TAC=12102,904;CLINVAR_ALLELEID=101303;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38698354A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6599242	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3458,318,0
chr3	38698510	rs78425180;95403	C	T	765.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.409;ClippingRankSum=0;DP=59;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.171;SOR=0.663;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78425180;dbSNPBuildID=131;ANN=T|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|27/27|c.4710G>A|p.Thr1570Thr|4710/5874|4710/5871|1570/1956||,T|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|27/27|c.4707G>A|p.Thr1569Thr|4707/5871|4707/5868|1569/1955||,T|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|26/26|c.4416G>A|p.Thr1472Thr|4416/5580|4416/5577|1472/1858||;p3_1000G_AA=C|||;p3_1000G_AC=290;p3_1000G_AF=0.0579073;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0648;p3_1000G_AN=5008;p3_1000G_DP=21415;p3_1000G_EAS_AF=0.2044;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38740001;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0276;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=16,4390;ESP6500_AA_AGE=23.3+/-48.9;ESP6500_AA_GTC=0,16,2187;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=-8.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=70;ESP6500_EA_AC=122,8478;ESP6500_EA_AGE=64.6+/-126.8;ESP6500_EA_GTC=0,122,4178;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006514.2:coding-synonymous;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38698510;ESP6500_GTC=0,138,6365;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.4710G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006514.2:p.(T1570);ESP6500_MAF=1.4186,0.3631,1.061;ESP6500_TAC=138,12868;CLINVAR_AF_ESP=0.0106;CLINVAR_AF_EXAC=0.03695;CLINVAR_AF_TGP=0.0579;CLINVAR_ALLELEID=101302;CLINVAR_CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLINVAR_CLNDN=Brugada_syndrome|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38698510C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=78425180	GT:AD:DP:GQ:PL	0/1:28,31:59:99:794,0,750
chr3	38707342	rs6790627;380868	T	C	213.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.03;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0.07;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6790627;dbSNPBuildID=116;ANN=C|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|25/27|c.4323A>G|p.Lys1441Lys|4323/5874|4323/5871|1441/1956||,C|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|25/27|c.4320A>G|p.Lys1440Lys|4320/5871|4320/5868|1440/1955||,C|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|24/26|c.4029A>G|p.Lys1343Lys|4029/5580|4029/5577|1343/1858||;p3_1000G_AA=C|||;p3_1000G_AC=1214;p3_1000G_AF=0.242412;p3_1000G_AFR_AF=0.3578;p3_1000G_AMR_AF=0.2104;p3_1000G_AN=5008;p3_1000G_DP=19164;p3_1000G_EAS_AF=0.3115;p3_1000G_EUR_AF=0.1571;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38748833;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1258;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1500,2906;ESP6500_AA_AGE=676.4+/-403.2;ESP6500_AA_GTC=263,974,966;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=1.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=136;ESP6500_EA_AC=1230,7370;ESP6500_EA_AGE=762.2+/-407.6;ESP6500_EA_GTC=75,1080,3145;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006514.2:coding-synonymous;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38707342;ESP6500_GTC=338,2054,4111;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.4323A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006514.2:p.(K1441);ESP6500_MAF=14.3023,34.0445,20.9903;ESP6500_TAC=2730,10276;CLINVAR_ALLELEID=367531;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38707342T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6790627	GT:AD:DP:GQ:PL	0/1:15,10:25:99:242,0,428
chr3	38709699	rs75074341	C	T	96.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.997;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.44;ReadPosRankSum=-0.171;SOR=0.804;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75074341;dbSNPBuildID=131;ANN=T|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|23/26|c.4144-84G>A||||||,T|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|23/26|c.4141-84G>A||||||,T|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|22/25|c.3850-84G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=169;p3_1000G_AF=0.033746;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20248;p3_1000G_EAS_AF=0.1597;p3_1000G_EUR_AF=0.001;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38751190;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,4:13:99:125,0,307
chr3	38723291	rs4076737	G	T	167.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.11;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-1.876;SOR=0.169;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4076737;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|18/26|c.3352+139C>A||||||,T|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|18/26|c.3349+139C>A||||||,T|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|17/25|c.3058+139C>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3651;p3_1000G_AF=0.729034;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=19473;p3_1000G_EAS_AF=0.7232;p3_1000G_EUR_AF=0.5815;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38764782;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:196,0,183
chr3	38725184	rs6795970;259996	A	G	515.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.266;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=1.02;SOR=0.817;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6795970;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|17/27|c.3218T>C|p.Val1073Ala|3218/5874|3218/5871|1073/1956||,G|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|17/27|c.3215T>C|p.Val1072Ala|3215/5871|3215/5868|1072/1955||,G|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|16/26|c.2924T>C|p.Val975Ala|2924/5580|2924/5577|975/1858||;p3_1000G_AA=G|||;p3_1000G_AC=3796;p3_1000G_AF=0.757987;p3_1000G_AFR_AF=0.9478;p3_1000G_AMR_AF=0.6441;p3_1000G_AN=5008;p3_1000G_DP=19128;p3_1000G_EAS_AF=0.8194;p3_1000G_EUR_AF=0.5905;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38766675;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6912;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3961,445;ESP6500_AA_AGE=212.8+/-232.6;ESP6500_AA_GTC=1782,397,24;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...20062061,20062063;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=-4.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=71;ESP6500_EA_AC=5176,3424;ESP6500_EA_AGE=504.5+/-376.2;ESP6500_EA_GTC=1552,2072,676;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006514.2:missense;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38725184;ESP6500_GS=64;ESP6500_GTC=3334,2469,700;ESP6500_GTS=GG,GA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...20062061,20062063;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.3218T>C;ESP6500_HGVS_PROTEIN_VAR=NM_006514.2:p.(V1073A);ESP6500_MAF=39.814,10.0999,29.7478;ESP6500_PH=benign:0.0;ESP6500_TAC=9137,3869;CLINVAR_ALLELEID=251113;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38725184A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q9Y5Y9#VAR_020606;CLINVAR_GENEINFO=SCN10A:6336|LOC110121288:110121288;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6795970	GT:AD:DP:GQ:PL	0/1:37,25:62:99:544,0,939
chr3	38726756	rs59468016;259994	G	A	1015.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.973;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-1.947;SOR=0.769;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs59468016;dbSNPBuildID=129;ANN=A|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|16/27|c.2937C>T|p.Gly979Gly|2937/5874|2937/5871|979/1956||,A|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|16/27|c.2937C>T|p.Gly979Gly|2937/5871|2937/5868|979/1955||,A|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|15/26|c.2643C>T|p.Gly881Gly|2643/5580|2643/5577|881/1858||;p3_1000G_AA=G|||;p3_1000G_AC=954;p3_1000G_AF=0.190495;p3_1000G_AFR_AF=0.0151;p3_1000G_AMR_AF=0.1081;p3_1000G_AN=5008;p3_1000G_DP=19690;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.2525;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38768247;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=224,4182;ESP6500_AA_AGE=133.7+/-170.0;ESP6500_AA_GTC=7,210,1986;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=1.1;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=68;ESP6500_EA_AC=2248,6352;ESP6500_EA_AGE=381.0+/-339.9;ESP6500_EA_GTC=295,1658,2347;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006514.2:coding-synonymous;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38726756;ESP6500_GTC=302,1868,4333;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.2937C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006514.2:p.(G979);ESP6500_MAF=26.1395,5.084,19.0066;ESP6500_TAC=2472,10534;CLINVAR_AF_ESP=0.1901;CLINVAR_AF_EXAC=0.23496;CLINVAR_AF_TGP=0.1905;CLINVAR_ALLELEID=251115;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38726756G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336|LOC110121288:110121288;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=59468016	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1044,0,1424
chr3	38726809	rs57326399;95401	T	C	862.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=83;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=1.5;SOR=0.7;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57326399;dbSNPBuildID=129;ANN=C|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|16/27|c.2884A>G|p.Ile962Val|2884/5874|2884/5871|962/1956||,C|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|16/27|c.2884A>G|p.Ile962Val|2884/5871|2884/5868|962/1955||,C|missense_variant|MODERATE|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|15/26|c.2590A>G|p.Ile864Val|2590/5580|2590/5577|864/1858||;p3_1000G_AA=C|||;p3_1000G_AC=1055;p3_1000G_AF=0.210663;p3_1000G_AFR_AF=0.0862;p3_1000G_AMR_AF=0.1153;p3_1000G_AN=5008;p3_1000G_DP=19922;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.2545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38768300;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2342;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=482,3924;ESP6500_AA_AGE=782.1+/-414.5;ESP6500_AA_GTC=24,434,1745;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=-4.2;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=61;ESP6500_EA_AC=2253,6347;ESP6500_EA_AGE=708.4+/-405.7;ESP6500_EA_GTC=296,1661,2343;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_006514.2:missense;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38726809;ESP6500_GS=29;ESP6500_GTC=320,2095,4088;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.2884A>G;ESP6500_HGVS_PROTEIN_VAR=NM_006514.2:p.(I962V);ESP6500_MAF=26.1977,10.9396,21.0288;ESP6500_PH=benign:0.437;ESP6500_TAC=2735,10271;CLINVAR_AF_ESP=0.2103;CLINVAR_AF_EXAC=0.24093;CLINVAR_AF_TGP=0.2107;CLINVAR_ALLELEID=101300;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38726809T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336|LOC110121288:110121288;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=57326399	GT:AD:DP:GQ:PL	0/1:47,36:83:99:891,0,1157
chr3	38742538	rs6599250;259993	T	C	711.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.22;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=7.745;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=1.25;SOR=0.122;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6599250;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|12/26|c.1868-9A>G||||||,C|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|12/26|c.1868-9A>G||||||,C|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|11/25|c.1574-9A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3795;p3_1000G_AF=0.757788;p3_1000G_AFR_AF=0.9501;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=19126;p3_1000G_EAS_AF=0.8373;p3_1000G_EUR_AF=0.5865;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38784029;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6871;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3954,452;ESP6500_AA_AGE=216.1+/-234.9;ESP6500_AA_GTC=1777,400,26;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=134;ESP6500_EA_AC=5118,3482;ESP6500_EA_AGE=510.5+/-377.5;ESP6500_EA_GTC=1525,2068,707;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006514.2:intron;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38742538;ESP6500_GTC=3302,2468,733;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.1868-9A>G;ESP6500_MAF=40.4884,10.2587,30.2476;ESP6500_TAC=9072,3934;CLINVAR_ALLELEID=251116;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38742538T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6599250	GT:AD:DP:GQ:PL	0/1:23,24:47:99:740,0,612
chr3	38752498	rs7617919;259992	G	A	1045.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.087;ClippingRankSum=0;DP=75;ExcessHet=3.0103;FS=1.929;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.386;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7617919;dbSNPBuildID=116;ANN=A|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|11/27|c.1476C>T|p.Leu492Leu|1476/5874|1476/5871|492/1956||,A|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|11/27|c.1476C>T|p.Leu492Leu|1476/5871|1476/5868|492/1955||,A|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|10/25|c.1462-2314C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1040;p3_1000G_AF=0.207668;p3_1000G_AFR_AF=0.0787;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=18386;p3_1000G_EAS_AF=0.373;p3_1000G_EUR_AF=0.2495;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38793989;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=471,3935;ESP6500_AA_GTC=26,419,1758;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=-5.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=25;ESP6500_EA_AC=2169,6429;ESP6500_EA_GTC=280,1609,2410;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006514.2:coding-synonymous;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38752498;ESP6500_GTC=306,2028,4168;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.1476C>T;ESP6500_HGVS_PROTEIN_VAR=NM_006514.2:p.(L492);ESP6500_MAF=25.2268,10.69,20.3014;ESP6500_TAC=2640,10364;CLINVAR_AF_ESP=0.2030;CLINVAR_AF_EXAC=0.24302;CLINVAR_AF_TGP=0.2077;CLINVAR_ALLELEID=251117;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38752498G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7617919	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1074,0,732
chr3	38756680	rs62244070;259991	C	T	125.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62244070;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|9/27|c.1284G>A|p.Glu428Glu|1284/5874|1284/5871|428/1956||,T|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|9/27|c.1284G>A|p.Glu428Glu|1284/5871|1284/5868|428/1955||,T|synonymous_variant|LOW|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|9/26|c.1284G>A|p.Glu428Glu|1284/5580|1284/5577|428/1858||;p3_1000G_AA=C|||;p3_1000G_AC=1039;p3_1000G_AF=0.207468;p3_1000G_AFR_AF=0.0794;p3_1000G_AMR_AF=0.1052;p3_1000G_AN=5008;p3_1000G_DP=19656;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.2485;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38798171;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=474,3932;ESP6500_AA_AGE=222.3+/-239.2;ESP6500_AA_GTC=25,424,1754;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=0.0;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=124;ESP6500_EA_AC=2158,6442;ESP6500_EA_AGE=370.4+/-335.9;ESP6500_EA_GTC=271,1616,2413;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006514.2:coding-synonymous;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38756680;ESP6500_GTC=296,2040,4167;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.1284G>A;ESP6500_HGVS_PROTEIN_VAR=NM_006514.2:p.(E428);ESP6500_MAF=25.093,10.7581,20.2368;ESP6500_TAC=2632,10374;CLINVAR_AF_ESP=0.2024;CLINVAR_AF_EXAC=0.23438;CLINVAR_AF_TGP=0.2075;CLINVAR_ALLELEID=251118;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38756680C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=62244070	GT:AD:DP:GQ:PL	0/1:5,6:11:99:154,0,181
chr3	38760760	rs7641844;260000	A	G	618.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.993;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=2.659;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.539;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7641844;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|6/26|c.884-13T>C||||||,G|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|6/26|c.884-13T>C||||||,G|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|6/25|c.884-13T>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=1947;p3_1000G_AF=0.388778;p3_1000G_AFR_AF=0.3275;p3_1000G_AMR_AF=0.2522;p3_1000G_AN=5008;p3_1000G_DP=20125;p3_1000G_EAS_AF=0.6815;p3_1000G_EUR_AF=0.2793;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38802251;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3793;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1546,2860;ESP6500_AA_AGE=482.3+/-359.4;ESP6500_AA_GTC=305,936,962;ESP6500_CDS_SIZES=NM_006514.2:5871;ESP6500_CG=1.3;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=69;ESP6500_EA_AC=2430,6170;ESP6500_EA_AGE=395.6+/-345.1;ESP6500_EA_GTC=330,1770,2200;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_006514.2:intron;ESP6500_GL=SCN10A;ESP6500_GRCh38_POSITION=3:38760760;ESP6500_GTC=635,2706,3162;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_006514.2:c.884-13T>C;ESP6500_MAF=28.2558,35.0885,30.5705;ESP6500_TAC=3976,9030;CLINVAR_AF_ESP=0.3057;CLINVAR_AF_EXAC=0.32987;CLINVAR_AF_TGP=0.3888;CLINVAR_ALLELEID=251119;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38760760A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN10A:6336;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7641844	GT:AD:DP:GQ:PGT:PID:PL	0/1:19,23:42:99:1|0:38760757_G_T:647,0,563
chr3	38771518	rs62244081	T	C	295.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.76;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.416;SOR=2.461;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs62244081;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_006514.3|protein_coding|3/26|c.471-111A>G||||||,C|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293306.2|protein_coding|3/26|c.471-111A>G||||||,C|intron_variant|MODIFIER|SCN10A|SCN10A|transcript|NM_001293307.2|protein_coding|3/25|c.471-111A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1155;p3_1000G_AF=0.230631;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.1196;p3_1000G_AN=5008;p3_1000G_DP=21646;p3_1000G_EAS_AF=0.372;p3_1000G_EUR_AF=0.2505;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38813009;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2434;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,11:23:99:324,0,362
chr3	38846736	rs4640498;474748	C	T	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.23;ClippingRankSum=0;DP=44;ExcessHet=3.0103;FS=5.468;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=1.26;SOR=0.16;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4640498;dbSNPBuildID=111;ANN=T|synonymous_variant|LOW|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|27/27|c.5334G>A|p.Leu1778Leu|5364/6331|5334/5376|1778/1791||,T|synonymous_variant|LOW|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|26/26|c.5334G>A|p.Leu1778Leu|5533/6500|5334/5376|1778/1791||;p3_1000G_AA=C|||;p3_1000G_AC=347;p3_1000G_AF=0.0692891;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=18656;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.0099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38888227;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=372,4034;ESP6500_AA_AGE=187.8+/-214.3;ESP6500_AA_GTC=22,328,1853;ESP6500_CDS_SIZES=NM_014139.2:5376;ESP6500_CG=1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=148;ESP6500_EA_AC=110,8490;ESP6500_EA_AGE=59.8+/-121.6;ESP6500_EA_GTC=1,108,4191;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014139.2:coding-synonymous;ESP6500_GL=SCN11A;ESP6500_GRCh38_POSITION=3:38846736;ESP6500_GTC=23,436,6044;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014139.2:c.5334G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014139.2:p.(L1778);ESP6500_MAF=1.2791,8.443,3.706;ESP6500_TAC=482,12524;CLINVAR_ALLELEID=452505;CLINVAR_CLNDISDB=MedGen:C3809882,OMIM:615548,Orphanet:ORPHA391397|MedGen:C3809899,OMIM:615552,Orphanet:ORPHA391392;CLINVAR_CLNDN=Neuropathy,_hereditary_sensory_and_autonomic,_type_VII|Episodic_pain_syndrome,_familial,_3;CLINVAR_CLNHGVS=NC_000003.12:g.38846736C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN11A:11280;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4640498	GT:AD:DP:GQ:PL	0/1:29,15:44:99:373,0,906
chr3	38847244	rs72869687;474735	G	A	1225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-4.111;ClippingRankSum=0;DP=82;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.425;SOR=0.735;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs72869687;dbSNPBuildID=130;ANN=A|missense_variant|MODERATE|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|27/27|c.4826C>T|p.Thr1609Ile|4856/6331|4826/5376|1609/1791||,A|missense_variant|MODERATE|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|26/26|c.4826C>T|p.Thr1609Ile|5025/6500|4826/5376|1609/1791||;p3_1000G_AA=G|||;p3_1000G_AC=347;p3_1000G_AF=0.0692891;p3_1000G_AFR_AF=0.087;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=22988;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.0099;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38888735;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0419;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=372,4034;ESP6500_AA_AGE=187.8+/-214.3;ESP6500_AA_GTC=22,328,1853;ESP6500_CDS_SIZES=NM_014139.2:5376;ESP6500_CG=-2.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=113;ESP6500_EA_AC=110,8490;ESP6500_EA_AGE=59.8+/-121.6;ESP6500_EA_GTC=1,108,4191;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014139.2:missense;ESP6500_GL=SCN11A;ESP6500_GRCh38_POSITION=3:38847244;ESP6500_GS=89;ESP6500_GTC=23,436,6044;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014139.2:c.4826C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014139.2:p.(T1609I);ESP6500_MAF=1.2791,8.443,3.706;ESP6500_PH=benign:0.006;ESP6500_TAC=482,12524;CLINVAR_ALLELEID=452814;CLINVAR_CLNDISDB=MedGen:C3809882,OMIM:615548,Orphanet:ORPHA391397|MedGen:C3809899,OMIM:615552,Orphanet:ORPHA391392;CLINVAR_CLNDN=Neuropathy,_hereditary_sensory_and_autonomic,_type_VII|Episodic_pain_syndrome,_familial,_3;CLINVAR_CLNHGVS=NC_000003.12:g.38847244G>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN11A:11280;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=72869687	GT:AD:DP:GQ:PL	0/1:34,47:81:99:1254,0,1023
chr3	38885421	rs6599266;260336	C	G	1608.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=48;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.52;SOR=1.562;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6599266;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|17/26|c.2950-19G>C||||||,G|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|16/25|c.2950-19G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3002;p3_1000G_AF=0.599441;p3_1000G_AFR_AF=0.8699;p3_1000G_AMR_AF=0.4611;p3_1000G_AN=5008;p3_1000G_DP=19891;p3_1000G_EAS_AF=0.5298;p3_1000G_EUR_AF=0.5229;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38926912;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4826;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3660,746;ESP6500_AA_AGE=304.6+/-288.6;ESP6500_AA_GTC=1514,632,57;ESP6500_CDS_SIZES=NM_014139.2:5376;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=75;ESP6500_EA_AC=4629,3971;ESP6500_EA_AGE=551.6+/-386.0;ESP6500_EA_GTC=1258,2113,929;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014139.2:intron;ESP6500_GL=SCN11A;ESP6500_GRCh38_POSITION=3:38885421;ESP6500_GTC=2772,2745,986;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_014139.2:c.2950-19G>C;ESP6500_MAF=46.1744,16.9315,36.2679;ESP6500_TAC=8289,4717;CLINVAR_ALLELEID=251120;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38885421C>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN11A:11280;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6599266	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1637,144,0
chr3	38885486	rs13093915	T	G	293.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.967;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.378;SOR=1.329;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13093915;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|17/26|c.2950-84A>C||||||,G|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|16/25|c.2950-84A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=453;p3_1000G_AF=0.0904553;p3_1000G_AFR_AF=0.0098;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=20195;p3_1000G_EAS_AF=0.1359;p3_1000G_EUR_AF=0.1203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38926977;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,10:20:99:322,0,258
chr3	38886363	rs13099628	T	G	79.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.674;ClippingRankSum=0;DP=4;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.94;ReadPosRankSum=-1.15;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13099628;dbSNPBuildID=121;ANN=G|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|16/26|c.2836-125A>C||||||,G|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|15/25|c.2836-125A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=921;p3_1000G_AF=0.183906;p3_1000G_AFR_AF=0.1755;p3_1000G_AMR_AF=0.2392;p3_1000G_AN=5008;p3_1000G_DP=16932;p3_1000G_EAS_AF=0.129;p3_1000G_EUR_AF=0.2386;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38927854;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1564;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,3:4:30:108,0,30
chr3	38894643	rs33985936;260335	C	T	848.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.391;ClippingRankSum=0;DP=91;ExcessHet=3.0103;FS=0.808;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-1.075;SOR=0.533;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs33985936;dbSNPBuildID=126;ANN=T|missense_variant|MODERATE|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|16/27|c.2725G>A|p.Val909Ile|2755/6331|2725/5376|909/1791||,T|missense_variant|MODERATE|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|15/26|c.2725G>A|p.Val909Ile|2924/6500|2725/5376|909/1791||;p3_1000G_AA=C|||;p3_1000G_AC=769;p3_1000G_AF=0.153554;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=20781;p3_1000G_EAS_AF=0.12;p3_1000G_EUR_AF=0.2376;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38936134;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1575;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=553,3853;ESP6500_AA_AGE=249.3+/-256.8;ESP6500_AA_GTC=30,493,1680;ESP6500_CDS_SIZES=NM_014139.2:5376;ESP6500_CG=-9.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=132;ESP6500_EA_AC=2108,6492;ESP6500_EA_AGE=363.0+/-333.0;ESP6500_EA_GTC=272,1564,2464;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_014139.2:missense;ESP6500_GL=SCN11A;ESP6500_GRCh38_POSITION=3:38894643;ESP6500_GS=29;ESP6500_GTC=302,2057,4144;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014139.2:c.2725G>A;ESP6500_HGVS_PROTEIN_VAR=NM_014139.2:p.(V909I);ESP6500_MAF=24.5116,12.5511,20.4598;ESP6500_PH=benign:0.001;ESP6500_TAC=2661,10345;CLINVAR_AF_ESP=0.2046;CLINVAR_AF_EXAC=0.21902;CLINVAR_AF_TGP=0.1536;CLINVAR_ALLELEID=251121;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38894643C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q9UI33#VAR_048697;CLINVAR_GENEINFO=SCN11A:11280;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=33985936	GT:AD:DP:GQ:PL	0/1:55,36:91:99:877,0,1437
chr3	38896808	rs5848481	C	CT	349.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.218;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.828;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs5848481;dbSNPBuildID=126;ANN=CT|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|15/26|c.2403+36dupA||||||,CT|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|14/25|c.2403+36dupA||||||	GT:AD:DP:GQ:PL	0/1:4,19:23:35:387,0,35
chr3	38904069	rs4073113;260334	A	G	805.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.35;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-2.035;SOR=0.673;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4073113;dbSNPBuildID=108;ANN=G|synonymous_variant|LOW|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|13/27|c.1638T>C|p.Cys546Cys|1668/6331|1638/5376|546/1791||,G|synonymous_variant|LOW|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|12/26|c.1638T>C|p.Cys546Cys|1837/6500|1638/5376|546/1791||;p3_1000G_AA=G|||;p3_1000G_AC=3067;p3_1000G_AF=0.61242;p3_1000G_AFR_AF=0.4864;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=19281;p3_1000G_EAS_AF=0.6369;p3_1000G_EUR_AF=0.6471;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38945560;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6677;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2306,2100;ESP6500_AA_AGE=575.0+/-383.9;ESP6500_AA_GTC=590,1126,487;ESP6500_CDS_SIZES=NM_014139.2:5376;ESP6500_CG=-0.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=117;ESP6500_EA_AC=5594,3006;ESP6500_EA_AGE=463.5+/-366.0;ESP6500_EA_GTC=1832,1930,538;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014139.2:coding-synonymous;ESP6500_GL=SCN11A;ESP6500_GRCh38_POSITION=3:38904069;ESP6500_GTC=2422,3056,1025;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014139.2:c.1638T>C;ESP6500_HGVS_PROTEIN_VAR=NM_014139.2:p.(C546);ESP6500_MAF=34.9535,47.6623,39.2588;ESP6500_TAC=7900,5106;CLINVAR_ALLELEID=251122;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.38904069A>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=SCN11A:11280;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4073113	GT:AD:DP:GQ:PL	0/1:32,29:61:99:834,0,751
chr3	38905381	rs4514993	A	T	369.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.954;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=2.231;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.94;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4514993;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|11/26|c.1474-60T>A||||||,T|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|10/25|c.1474-60T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4377;p3_1000G_AF=0.874002;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=21230;p3_1000G_EAS_AF=0.874;p3_1000G_EUR_AF=0.8787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38946872;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:12,14:26:99:398,0,351
chr3	38907872	rs6599267	A	C	124.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.439;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.022;SOR=0.33;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6599267;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|11/26|c.1473+77T>G||||||,C|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|10/25|c.1473+77T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4471;p3_1000G_AF=0.892772;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=21426;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.8787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38949363;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,5:8:85:153,0,85
chr3	38910262	rs7429404	T	C	275.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.063;ClippingRankSum=0;DP=15;ExcessHet=3.0103;FS=9.961;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.38;ReadPosRankSum=0.725;SOR=0.027;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7429404;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|8/26|c.960-55A>G||||||,C|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|7/25|c.960-55A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4471;p3_1000G_AF=0.892772;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=17114;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.8787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38951753;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,10:15:99:304,0,162
chr3	38920046	rs6779297	T	C	81.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.88;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.81;ReadPosRankSum=1.81;SOR=2.494;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6779297;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|7/26|c.893-45A>G||||||,C|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|6/25|c.893-45A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4471;p3_1000G_AF=0.892772;p3_1000G_AFR_AF=0.9244;p3_1000G_AMR_AF=0.8357;p3_1000G_AN=5008;p3_1000G_DP=21852;p3_1000G_EAS_AF=0.875;p3_1000G_EUR_AF=0.8787;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38961537;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9233;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4010,394;ESP6500_AA_AGE=181.2+/-209.3;ESP6500_AA_GTC=1829,352,21;ESP6500_CDS_SIZES=NM_014139.2:5376;ESP6500_CG=-0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=45;ESP6500_EA_AC=7510,1086;ESP6500_EA_AGE=223.7+/-260.4;ESP6500_EA_GTC=3285,940,73;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014139.2:intron;ESP6500_GL=SCN11A;ESP6500_GRCh38_POSITION=3:38920046;ESP6500_GTC=5114,1292,94;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014139.2:c.893-45A>G;ESP6500_MAF=12.6338,8.9464,11.3846;ESP6500_TAC=11520,1480	GT:AD:DP:GQ:PL	0/1:8,4:12:99:110,0,168
chr3	38950078	rs572210885	C	G	94.03	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=4;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=23.51;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNPBuildID=142;ANN=G|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_001287223.1|protein_coding|2/26|c.267+18G>C||||||,G|intron_variant|MODIFIER|SCN11A|SCN11A|transcript|NM_014139.2|protein_coding|1/25|c.267+18G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=794;p3_1000G_AF=0.158546;p3_1000G_AFR_AF=0.2579;p3_1000G_AMR_AF=0.1902;p3_1000G_AN=5008;p3_1000G_DP=2762;p3_1000G_EAS_AF=0.123;p3_1000G_EUR_AF=0.1223;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=38991569;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,4:4:12:122,12,0
chr3	39066494	rs35240745	T	A	375.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.545;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.512;SOR=0.998;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35240745;dbSNPBuildID=126;ANN=A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|3/18|c.269-54T>A||||||,A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|2/17|c.23-54T>A||||||,A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|3/18|c.269-81T>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=321;p3_1000G_AF=0.0640974;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=19850;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39107985;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=115,1269;ESP6500_AA_GTC=7,101,584;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=120;ESP6500_EA_AC=48,3132;ESP6500_EA_GTC=1,46,1543;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:intron;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39066494;ESP6500_GTC=8,147,2127;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.269-54T>A;ESP6500_MAF=1.5094,8.3092,3.5714;ESP6500_TAC=163,4401	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,15:30:99:0|1:39066494_T_A:404,0,585
chr3	39066502	rs10510698	T	G	418.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.27;ClippingRankSum=0;DP=31;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.158;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10510698;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|3/18|c.269-46T>G||||||,G|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|2/17|c.23-46T>G||||||,G|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|3/18|c.269-73T>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2239;p3_1000G_AF=0.447085;p3_1000G_AFR_AF=0.8396;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=19864;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.3231;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39107993;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3313,1091;ESP6500_AA_GTC=1248,817,137;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=67;ESP6500_EA_AC=2776,5818;ESP6500_EA_GTC=469,1838,1990;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:intron;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39066502;ESP6500_GTC=1717,2655,2127;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.269-46T>G;ESP6500_MAF=32.3016,24.7729,46.8457;ESP6500_TAC=6089,6909	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,16:31:99:1|0:39066494_T_A:447,0,582
chr3	39067012	rs7624734	G	A	574.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.419;ClippingRankSum=0;DP=51;ExcessHet=3.0103;FS=5.973;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.565;SOR=1.708;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7624734;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|5/18|c.481+137G>A||||||,A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|4/17|c.235+137G>A||||||,A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|5/18|c.454+137G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=2239;p3_1000G_AF=0.447085;p3_1000G_AFR_AF=0.8396;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=20209;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.3241;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39108503;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:28,23:51:99:603,0,739
chr3	39068755	rs12635796	C	T	259.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.362;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.821;SOR=0.551;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12635796;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|5/18|c.482-16C>T||||||,T|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|4/17|c.236-16C>T||||||,T|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|5/18|c.455-16C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=537;p3_1000G_AF=0.107228;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.1571;p3_1000G_AN=5008;p3_1000G_DP=14844;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.1123;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39110246;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=435,3971;ESP6500_AA_AGE=209.5+/-230.2;ESP6500_AA_GTC=23,389,1791;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=122;ESP6500_EA_AC=982,7618;ESP6500_EA_AGE=212.2+/-252.6;ESP6500_EA_GTC=65,852,3383;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:intron;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39068755;ESP6500_GTC=88,1241,5174;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.482-16C>T;ESP6500_MAF=11.4186,9.8729,10.895;ESP6500_TAC=1417,11589	GT:AD:DP:GQ:PL	0/1:12,13:25:99:288,0,266
chr3	39068885	rs34070325;rs368389580;rs539688595	T	TA	96.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.37;ReadPosRankSum=0.229;SOR=0.941;INS;HET;VARTYPE=INS;dbSNP138_ID=rs34070325,rs368389580;dbSNPBuildID=142,126,138;ANN=TA|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|6/18|c.570+37dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|5/17|c.324+37dupA||||||INFO_REALIGN_3_PRIME,TA|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|6/18|c.543+37dupA||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=|||unknown(LONG_INSERTION);p3_1000G_AC=760;p3_1000G_AF=0.151757;p3_1000G_AFR_AF=0.2277;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=20100;p3_1000G_EAS_AF=0.1339;p3_1000G_EUR_AF=0.1213;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39110376;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0818;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:11,7:18:99:134,0,248
chr3	39069649	rs2293312	C	A	381.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.548;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=1.091;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=-0.355;SOR=0.962;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293312;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|WDR48|WDR48|transcript|NM_020839.3|protein_coding|7/19|c.577C>A|p.Arg193Arg|617/4001|577/2034|193/677||,A|synonymous_variant|LOW|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|6/18|c.331C>A|p.Arg111Arg|538/3922|331/1788|111/595||,A|synonymous_variant|LOW|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|7/19|c.550C>A|p.Arg184Arg|590/3974|550/2007|184/668||;p3_1000G_AA=A|||;p3_1000G_AC=2239;p3_1000G_AF=0.447085;p3_1000G_AFR_AF=0.8396;p3_1000G_AMR_AF=0.3242;p3_1000G_AN=5008;p3_1000G_DP=17000;p3_1000G_EAS_AF=0.3403;p3_1000G_EUR_AF=0.3231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39111140;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2413;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3318,1088;ESP6500_AA_AGE=392.6+/-328.5;ESP6500_AA_GTC=1249,820,134;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=121;ESP6500_EA_AC=2785,5815;ESP6500_EA_AGE=678.7+/-403.5;ESP6500_EA_GTC=470,1845,1985;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:coding-synonymous;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39069649;ESP6500_GTC=1719,2665,2119;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.577C>A;ESP6500_HGVS_PROTEIN_VAR=NM_020839.2:p.(R193);ESP6500_MAF=32.3837,24.6936,46.9245;ESP6500_TAC=6103,6903	GT:AD:DP:GQ:PGT:PID:PL	0/1:39,19:58:99:1|0:39069640_C_A:410,0,1016
chr3	39077046	rs78976990	G	A	132.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.981;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.97;ReadPosRankSum=0.967;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs78976990;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|8/18|c.898-93G>A||||||,A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|7/17|c.652-93G>A||||||,A|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|8/18|c.871-93G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=313;p3_1000G_AF=0.0625;p3_1000G_AFR_AF=0.0696;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=19843;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39118537;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,5:7:66:161,0,66
chr3	39077216	rs3732374	A	G	626.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.24;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=2.619;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=0.36;SOR=0.988;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732374;dbSNPBuildID=107;ANN=G|splice_region_variant&intron_variant|LOW|WDR48|WDR48|transcript|NM_020839.3|protein_coding|9/18|c.972+3A>G||||||,G|splice_region_variant&intron_variant|LOW|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|8/17|c.726+3A>G||||||,G|splice_region_variant&intron_variant|LOW|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|9/18|c.945+3A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=321;p3_1000G_AF=0.0640974;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=19686;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39118707;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=315,4091;ESP6500_AA_AGE=166.9+/-198.0;ESP6500_AA_GTC=16,283,1904;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=3.8;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=87;ESP6500_EA_AC=109,8491;ESP6500_EA_AGE=59.5+/-121.1;ESP6500_EA_GTC=1,107,4192;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:intron;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39077216;ESP6500_GTC=17,390,6096;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.972+3A>G;ESP6500_MAF=1.2674,7.1493,3.26;ESP6500_TAC=424,12582	GT:AD:DP:GQ:PL	0/1:19,24:43:99:655,0,379
chr3	39078124	rs13077476	T	C	422.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=26;ExcessHet=3.0103;FS=1.596;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.036;SOR=1.112;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13077476;dbSNPBuildID=121;ANN=C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|9/18|c.973-13T>C||||||,C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|8/17|c.727-13T>C||||||,C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|9/18|c.946-13T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=728;p3_1000G_AF=0.145367;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=16929;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.1143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39119615;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=882,3524;ESP6500_AA_AGE=299.3+/-285.7;ESP6500_AA_GTC=101,680,1422;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=5.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=50;ESP6500_EA_AC=1000,7596;ESP6500_EA_AGE=204.0+/-246.8;ESP6500_EA_GTC=66,868,3364;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:intron;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39078124;ESP6500_GTC=167,1548,4786;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.973-13T>C;ESP6500_MAF=11.6333,20.0182,14.4747;ESP6500_TAC=1882,11120	GT:AD:DP:GQ:PL	0/1:10,16:26:99:451,0,224
chr3	39084052	rs6777201	C	T	31.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.524;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.35;ReadPosRankSum=0.524;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6777201;dbSNPBuildID=116;ANN=T|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|11/18|c.1174-103C>T||||||,T|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|10/17|c.928-103C>T||||||,T|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|11/18|c.1147-103C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=728;p3_1000G_AF=0.145367;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=16903;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.1143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39125543;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,79
chr3	39084118	rs59046184;rs66531425	CTTAATA	C	283.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.296;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.83;ReadPosRankSum=-1.384;SOR=0.627;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs59046184,rs66531425;dbSNPBuildID=132,129;ANN=C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|11/18|c.1174-34_1174-29delAATATT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|10/17|c.928-34_928-29delAATATT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|11/18|c.1147-34_1147-29delAATATT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=728;p3_1000G_AF=0.145367;p3_1000G_AFR_AF=0.2239;p3_1000G_AMR_AF=0.1744;p3_1000G_AN=5008;p3_1000G_DP=16116;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.1143;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39125609;p3_1000G_GRCH37_REF=CTTAATA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0695;p3_1000G_VT=INDEL;ESP6500_AA_AC=843,3421;ESP6500_AA_GTC=97,649,1386;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=4.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=49;ESP6500_EA_AC=938,7310;ESP6500_EA_GTC=69,800,3255;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:intron;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39084118;ESP6500_GTC=166,1449,4641;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.1174-36_1174-31del6;ESP6500_MAF=11.3725,19.7702,14.2343;ESP6500_TAC=1781,10731	GT:AD:DP:GQ:PL	0/1:5,8:13:99:321,0,267
chr3	39088251	rs3736573	A	C	1292.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=1.556;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3736573;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|15/18|c.1580+18A>C||||||,C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|14/17|c.1334+18A>C||||||,C|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|15/18|c.1553+18A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2384;p3_1000G_AF=0.476038;p3_1000G_AFR_AF=0.8941;p3_1000G_AMR_AF=0.3271;p3_1000G_AN=5008;p3_1000G_DP=19065;p3_1000G_EAS_AF=0.4702;p3_1000G_EUR_AF=0.2763;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39129742;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.228;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3543,863;ESP6500_AA_AGE=334.1+/-303.3;ESP6500_AA_GTC=1434,675,94;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=70;ESP6500_EA_AC=2424,6176;ESP6500_EA_AGE=695.8+/-404.8;ESP6500_EA_GTC=372,1680,2248;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:intron;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39088251;ESP6500_GTC=1806,2355,2342;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.1580+18A>C;ESP6500_MAF=28.186,19.5869,45.8788;ESP6500_TAC=5967,7039	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1321,126,0
chr3	39091593	rs4676581	C	G	325.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.249;ClippingRankSum=0;DP=38;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=2.26;SOR=0.815;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4676581;dbSNPBuildID=111;ANN=G|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding|16/18|c.1669-32C>G||||||,G|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding|15/17|c.1423-32C>G||||||,G|intron_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding|16/18|c.1642-32C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=321;p3_1000G_AF=0.0640974;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=16471;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39133084;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=309,4081;ESP6500_AA_GTC=15,279,1901;ESP6500_CDS_SIZES=NM_020839.2:2034;ESP6500_CG=2.1;ESP6500_CP=0.7;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=28;ESP6500_EA_AC=108,8454;ESP6500_EA_GTC=0,108,4173;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020839.2:intron;ESP6500_GL=WDR48;ESP6500_GRCh38_POSITION=3:39091593;ESP6500_GTC=15,387,6074;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_020839.2:c.1669-32C>G;ESP6500_MAF=1.2614,7.0387,3.2196;ESP6500_TAC=417,12535	GT:AD:DP:GQ:PL	0/1:22,16:38:99:354,0,530
chr3	39098285	rs1109643	G	A	634.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.736;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.9;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-2.586;SOR=1.251;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1109643;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|9/9|c.1274C>T|p.Thr425Met|2096/3782|1274/1323|425/440||,A|missense_variant|MODERATE|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|7/7|c.989C>T|p.Thr330Met|1348/3034|989/1038|330/345||,A|missense_variant|MODERATE|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|6/6|c.809C>T|p.Thr270Met|1168/2854|809/858|270/285||,A|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding||c.*3542G>A|||||1615|,A|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding||c.*3542G>A|||||1615|,A|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding||c.*3542G>A|||||1615|,A|non_coding_transcript_exon_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|9/9|n.1592C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|9/9|n.1584C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=320;p3_1000G_AF=0.0638978;p3_1000G_AFR_AF=0.0749;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=20905;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39139776;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=315,4091;ESP6500_AA_AGE=167.3+/-198.3;ESP6500_AA_GTC=16,283,1904;ESP6500_CDS_SIZES=NM_031899.2:1323;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=85;ESP6500_EA_AC=109,8491;ESP6500_EA_AGE=59.5+/-121.1;ESP6500_EA_GTC=1,107,4192;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_031899.2:missense;ESP6500_GL=GORASP1;ESP6500_GRCh38_POSITION=3:39098285;ESP6500_GS=81;ESP6500_GTC=17,390,6096;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_031899.2:c.1274C>T;ESP6500_HGVS_PROTEIN_VAR=NM_031899.2:p.(T425M);ESP6500_MAF=1.2674,7.1493,3.26;ESP6500_PH=benign:0.003;ESP6500_TAC=424,12582	GT:AD:DP:GQ:PGT:PID:PL	0/1:29,26:55:99:0|1:39098269_C_A:663,0,746
chr3	39099605	rs1122818	A	G	768.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.94;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1122818;dbSNPBuildID=86;ANN=G|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding||c.*4862A>G|||||2935|,G|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding||c.*4862A>G|||||2935|,G|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding||c.*4862A>G|||||2935|,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|6/8|c.766-102T>C||||||,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|4/6|c.481-102T>C||||||,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|3/5|c.301-102T>C||||||,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|6/8|n.1084-102T>C||||||,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|6/8|n.1076-102T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2053;p3_1000G_AF=0.409944;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=22149;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39141096;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:797,66,0
chr3	39101632	rs4676631	T	C	72.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.628;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=-0.321;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4676631;dbSNPBuildID=111;ANN=C|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_020839.3|protein_coding||c.*6889T>C|||||4962|,C|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303402.1|protein_coding||c.*6889T>C|||||4962|,C|downstream_gene_variant|MODIFIER|WDR48|WDR48|transcript|NM_001303403.1|protein_coding||c.*6889T>C|||||4962|,C|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|3/8|c.349-530A>G||||||,C|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|1/6|c.64-530A>G||||||,C|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|1/5|c.64-530A>G||||||,C|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|3/8|n.708-530A>G||||||,C|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|3/8|n.708-530A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=322;p3_1000G_AF=0.0642971;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=18909;p3_1000G_EAS_AF=0.1508;p3_1000G_EUR_AF=0.0129;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39143123;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0348;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,4:11:99:101,0,189
chr3	39103419	rs2293308	A	G	344.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=1.744;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.235;SOR=0.283;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293308;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding||c.-4419A>G|||||4242|,G|upstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding||c.-4419A>G|||||4242|,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|2/8|c.144+54T>C||||||,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|1/6|c.64-2317T>C||||||,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|1/5|c.64-2317T>C||||||,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|2/8|n.503+54T>C||||||,G|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|2/8|n.503+54T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=1089;p3_1000G_AF=0.217452;p3_1000G_AFR_AF=0.4803;p3_1000G_AMR_AF=0.2032;p3_1000G_AN=5008;p3_1000G_DP=19429;p3_1000G_EAS_AF=0.127;p3_1000G_EUR_AF=0.1173;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39144910;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=606,778;ESP6500_AA_GTC=127,352,213;ESP6500_CDS_SIZES=NM_031899.2:1323;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=55;ESP6500_EA_AC=389,2793;ESP6500_EA_GTC=25,339,1227;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031899.2:intron;ESP6500_GL=GORASP1;ESP6500_GRCh38_POSITION=3:39103419;ESP6500_GTC=152,691,1440;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031899.2:c.144+54T>C;ESP6500_MAF=12.225,43.7861,21.7915;ESP6500_TAC=995,3571	GT:AD:DP:GQ:PL	0/1:10,13:23:99:373,0,251
chr3	39103695	rs7629643	G	A	617.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=17;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.74;SOR=3.383;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7629643;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding||c.-4143G>A|||||3966|,A|upstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding||c.-4143G>A|||||3966|,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|1/8|c.64-142C>T||||||,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|1/6|c.64-2593C>T||||||,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|1/5|c.64-2593C>T||||||,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|1/8|n.423-142C>T||||||,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|1/8|n.423-142C>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2053;p3_1000G_AF=0.409944;p3_1000G_AFR_AF=0.8858;p3_1000G_AMR_AF=0.2997;p3_1000G_AN=5008;p3_1000G_DP=21191;p3_1000G_EAS_AF=0.2986;p3_1000G_EUR_AF=0.2197;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39145186;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1554;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,17:17:51:646,51,0
chr3	39107107	rs7374053	G	A	271.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=1.402;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=-2.269;SOR=0.412;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7374053;dbSNPBuildID=116;ANN=A|upstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding||c.-731G>A|||||554|,A|upstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding||c.-731G>A|||||554|,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|1/8|c.63+372C>T||||||,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|1/6|c.63+372C>T||||||,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|1/5|c.63+372C>T||||||,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|1/8|n.422+372C>T||||||,A|intron_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|1/8|n.422+372C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=325;p3_1000G_AF=0.0648962;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=12805;p3_1000G_EAS_AF=0.1558;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39148598;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:22,12:34:99:300,0,547
chr3	39107601	rs6786764	A	G	355.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.66;SOR=0.892;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6786764;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|1/9|c.-60T>C|||||60|,G|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|1/7|c.-60T>C|||||60|,G|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|1/6|c.-60T>C|||||60|,G|upstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding||c.-237A>G|||||60|,G|upstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding||c.-237A>G|||||60|,G|non_coding_transcript_exon_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|1/9|n.300T>C||||||,G|non_coding_transcript_exon_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|1/9|n.300T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4757;p3_1000G_AF=0.94988;p3_1000G_AFR_AF=0.9939;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=11319;p3_1000G_EAS_AF=0.996;p3_1000G_EUR_AF=0.8996;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39149092;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9274;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=758,6;ESP6500_AA_GTC=376,6,0;ESP6500_CDS_SIZES=NM_031899.2:1323;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=2;ESP6500_EA_AC=2094,188;ESP6500_EA_GTC=958,178,5;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_031899.2:utr-5;ESP6500_GL=GORASP1;ESP6500_GRCh38_POSITION=3:39107601;ESP6500_GTC=1334,184,5;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_031899.2:c.-60T>C;ESP6500_MAF=8.2384,0.7853,6.369;ESP6500_TAC=2852,194	GT:AD:DP:GQ:PL	1/1:0,9:9:27:384,27,0
chr3	39107727	rs28362645	A	T	75.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.864;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=4.545;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.44;ReadPosRankSum=0.11;SOR=1.911;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28362645;dbSNPBuildID=125;ANN=T|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|1/9|c.-186T>A|||||186|,T|5_prime_UTR_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|1/29|c.-111A>T|||||111|,T|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|1/7|c.-186T>A|||||186|,T|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|1/6|c.-186T>A|||||186|,T|5_prime_UTR_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|1/28|c.-111A>T|||||111|,T|non_coding_transcript_exon_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|1/9|n.174T>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|1/9|n.174T>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=479;p3_1000G_AF=0.095647;p3_1000G_AFR_AF=0.0492;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=12897;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.1123;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39149218;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0654;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,6:22:99:104,0,440
chr3	39107786	rs28362644	C	T	575.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.79;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.4;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0.09;SOR=0.382;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28362644;dbSNPBuildID=125;ANN=T|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|1/9|c.-245G>A|||||245|,T|5_prime_UTR_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|1/29|c.-52C>T|||||52|,T|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding|1/7|c.-245G>A|||||245|,T|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding|1/6|c.-245G>A|||||245|,T|5_prime_UTR_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|1/28|c.-52C>T|||||52|,T|non_coding_transcript_exon_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene|1/9|n.115G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene|1/9|n.115G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=357;p3_1000G_AF=0.0712859;p3_1000G_AFR_AF=0.0998;p3_1000G_AMR_AF=0.0346;p3_1000G_AN=5008;p3_1000G_DP=14072;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.0119;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39149277;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0337;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=298,2828;ESP6500_AA_GTC=14,270,1279;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_125;ESP6500_DP=28;ESP6500_EA_AC=92,7070;ESP6500_EA_GTC=2,88,3491;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:utr-5,NM_001105513.2:utr-5;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39107786;ESP6500_GTC=16,358,4770;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.-52C>T,NM_001105513.2:c.-52C>T;ESP6500_MAF=1.2846,9.5329,3.7908;ESP6500_TAC=390,9898	GT:AD:DP:GQ:PL	0/1:13,24:37:99:604,0,290
chr3	39108012	rs28362642	A	G	677.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.42;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.987;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.37;ReadPosRankSum=-0.501;SOR=1.347;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs28362642;dbSNPBuildID=125;ANN=G|5_prime_UTR_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding|1/9|c.-471T>C|||||471|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding||c.-471T>C|||||112|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding||c.-471T>C|||||112|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene||n.-112T>C|||||112|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene||n.-112T>C|||||112|,G|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|1/28|c.27+148A>G||||||,G|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|1/27|c.27+148A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=508;p3_1000G_AF=0.101438;p3_1000G_AFR_AF=0.0605;p3_1000G_AMR_AF=0.1599;p3_1000G_AN=5008;p3_1000G_DP=17966;p3_1000G_EAS_AF=0.13;p3_1000G_EUR_AF=0.1183;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39149503;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0685;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,20:29:99:706,0,248
chr3	39110757	rs7613766	C	G	39.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.96;ClippingRankSum=0;DP=6;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.63;ReadPosRankSum=-0.674;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7613766;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding||c.-3216G>C|||||2394|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding||c.-3216G>C|||||2857|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding||c.-3216G>C|||||2857|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene||n.-2857G>C|||||2857|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene||n.-2857G>C|||||2857|,G|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|3/28|c.269-94C>G||||||,G|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|3/27|c.269-94C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2283;p3_1000G_AF=0.455871;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=19617;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39152248;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,3:6:68:68,0,103
chr3	39110854	rs1112438	G	A	89.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.041;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=-2.505;SOR=0.527;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1112438;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|4/29|c.272G>A|p.Arg91Gln|449/4255|272/3963|91/1320||,A|missense_variant|MODERATE|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|4/28|c.272G>A|p.Arg91Gln|449/4111|272/3819|91/1272||,A|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding||c.-3313C>T|||||2491|,A|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding||c.-3313C>T|||||2954|,A|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding||c.-3313C>T|||||2954|,A|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene||n.-2954C>T|||||2954|,A|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene||n.-2954C>T|||||2954|;p3_1000G_AA=G|||;p3_1000G_AC=1741;p3_1000G_AF=0.347644;p3_1000G_AFR_AF=0.5681;p3_1000G_AMR_AF=0.2911;p3_1000G_AN=5008;p3_1000G_DP=22574;p3_1000G_EAS_AF=0.252;p3_1000G_EUR_AF=0.2714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39152345;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2669;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1928,1994;ESP6500_AA_GTC=483,962,516;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=0.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=60;ESP6500_EA_AC=2377,5959;ESP6500_EA_GTC=360,1657,2151;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145755.2:missense,NM_001105513.2:missense;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39110854;ESP6500_GS=43,43;ESP6500_GTC=843,2619,2667;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.272G>A,NM_001105513.2:c.272G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145755.2:p.(R91Q),NM_001105513.2:p.(R91Q);ESP6500_MAF=28.5149,49.1586,35.1199;ESP6500_PH=benign:0.178,benign:0.178;ESP6500_TAC=4305,7953	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,7:25:99:1|0:39110850_G_A:118,0,459
chr3	39111084	rs7614000	C	G	85.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.842;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.108;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7614000;dbSNPBuildID=116;ANN=G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_031899.3|protein_coding||c.-3543G>C|||||2721|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278789.1|protein_coding||c.-3543G>C|||||3184|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NM_001278790.1|protein_coding||c.-3543G>C|||||3184|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103866.1|pseudogene||n.-3184G>C|||||3184|,G|upstream_gene_variant|MODIFIER|GORASP1|GORASP1|transcript|NR_103867.1|pseudogene||n.-3184G>C|||||3184|,G|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|4/28|c.435+67C>G||||||,G|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|4/27|c.435+67C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2283;p3_1000G_AF=0.455871;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.3444;p3_1000G_AN=5008;p3_1000G_DP=18163;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.334;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39152575;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:3,4:7:99:114,0,106
chr3	39119965	rs1274972	G	A	902.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.5;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.145;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=1.5;SOR=0.905;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1274972;dbSNPBuildID=87;ANN=A|missense_variant|MODERATE|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|8/29|c.869G>A|p.Arg290Lys|1046/4255|869/3963|290/1320||,A|missense_variant|MODERATE|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|7/28|c.722G>A|p.Arg241Lys|899/4111|722/3819|241/1272||;p3_1000G_AA=G|||;p3_1000G_AC=2282;p3_1000G_AF=0.455671;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=18365;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39161456;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2803,953;ESP6500_AA_GTC=1044,715,119;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=1.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=120;ESP6500_EA_AC=2777,5435;ESP6500_EA_GTC=486,1805,1815;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145755.2:missense,NM_001105513.2:missense;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39119965;ESP6500_GS=26,26;ESP6500_GTC=1530,2520,1934;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.869G>A,NM_001105513.2:c.722G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145755.2:p.(R290K),NM_001105513.2:p.(R241K);ESP6500_MAF=33.8164,25.3727,46.6243;ESP6500_PH=benign:0.004,benign:0.004;ESP6500_TAC=5580,6388	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,23:46:99:0|1:39119965_G_A:931,0,1350
chr3	39119973	rs1274971	G	A	902.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.85;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.117;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.669;SOR=0.794;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1274971;dbSNPBuildID=87;ANN=A|missense_variant|MODERATE|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|8/29|c.877G>A|p.Glu293Lys|1054/4255|877/3963|293/1320||,A|missense_variant|MODERATE|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|7/28|c.730G>A|p.Glu244Lys|907/4111|730/3819|244/1272||;p3_1000G_AA=G|||;p3_1000G_AC=2282;p3_1000G_AF=0.455671;p3_1000G_AFR_AF=0.8495;p3_1000G_AMR_AF=0.3429;p3_1000G_AN=5008;p3_1000G_DP=18210;p3_1000G_EAS_AF=0.2738;p3_1000G_EUR_AF=0.334;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39161464;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2790,932;ESP6500_AA_GTC=1038,714,109;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=3.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=111;ESP6500_EA_AC=2786,5410;ESP6500_EA_GTC=485,1816,1797;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145755.2:missense,NM_001105513.2:missense;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39119973;ESP6500_GS=56,56;ESP6500_GTC=1523,2530,1906;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.877G>A,NM_001105513.2:c.730G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145755.2:p.(E293K),NM_001105513.2:p.(E244K);ESP6500_MAF=33.9922,25.0403,46.7864;ESP6500_PH=benign:0.18,benign:0.18;ESP6500_TAC=5576,6342	GT:AD:DP:GQ:PGT:PID:PL	0/1:23,24:47:99:0|1:39119965_G_A:931,0,1350
chr3	39124993	rs784508	C	T	235.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.898;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=-0.812;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs784508;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|9/28|c.1118-70C>T||||||,T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|8/27|c.971-70C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2726;p3_1000G_AF=0.544329;p3_1000G_AFR_AF=0.1505;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=22443;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39166484;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,10:14:99:264,0,123
chr3	39125018	rs784507	A	G	638.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.41;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs784507;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|9/28|c.1118-45A>G||||||,G|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|8/27|c.971-45A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4136;p3_1000G_AF=0.825879;p3_1000G_AFR_AF=0.6422;p3_1000G_AMR_AF=0.9035;p3_1000G_AN=5008;p3_1000G_DP=22250;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.8807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39166509;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2931,1201;ESP6500_AA_GTC=1054,823,189;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=-0.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=62;ESP6500_EA_AC=7353,1079;ESP6500_EA_GTC=3215,923,78;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:intron,NM_001105513.2:intron;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39125018;ESP6500_GTC=4269,1746,267;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.1118-45A>G,NM_001105513.2:c.971-45A>G;ESP6500_MAF=12.7965,29.0658,18.1471;ESP6500_TAC=10284,2280	GT:AD:DP:GQ:PL	1/1:0,18:18:54:667,54,0
chr3	39125252	rs2669852	T	C	451.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.75;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2669852;dbSNPBuildID=100;ANN=C|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|10/28|c.1216-80T>C||||||,C|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|9/27|c.1069-80T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4973;p3_1000G_AF=0.993011;p3_1000G_AFR_AF=0.975;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=21193;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39166743;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:480,39,0
chr3	39126414	rs784506	G	A	1807.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.48;SOR=1.697;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs784506;dbSNPBuildID=86;ANN=A|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|12/28|c.1546+24G>A||||||,A|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|11/27|c.1399+24G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4570;p3_1000G_AF=0.91254;p3_1000G_AFR_AF=0.947;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=17306;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.8857;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39167905;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=3790,236;ESP6500_AA_GTC=1785,220,8;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=66;ESP6500_EA_AC=7312,1052;ESP6500_EA_GTC=3206,900,76;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:intron,NM_001105513.2:intron;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39126414;ESP6500_GTC=4991,1120,84;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.1546+24G>A,NM_001105513.2:c.1399+24G>A;ESP6500_MAF=12.5777,5.8619,10.3955;ESP6500_TAC=11102,1288	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1836,162,0
chr3	39126475	rs878944315	TACACACACACACACAC	T	538.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.69;SOR=4.294;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs6147782;dbSNPBuildID=147;ANN=T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|12/28|c.1546+116_1546+131delACACACACACACACAC||||||INFO_REALIGN_3_PRIME,T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|11/27|c.1399+116_1399+131delACACACACACACACAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:0,10:10:99:576,183,262
chr3	39126475	.	TACACACACACACACAC	TACACACACACACAC	538.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=31.69;SOR=4.294;DEL;HET;VARTYPE=DEL;ANN=TACACACACACACAC|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|12/28|c.1546+130_1546+131delAC||||||INFO_REALIGN_3_PRIME,TACACACACACACAC|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|11/27|c.1399+130_1399+131delAC||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:0,7:7:99:576,414,392
chr3	39128599	rs1274968	C	T	195.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.743;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=4.612;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.807;SOR=0.124;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1274968;dbSNPBuildID=87;ANN=T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|13/28|c.1701+111C>T||||||,T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|12/27|c.1557+111C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2728;p3_1000G_AF=0.544728;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=19655;p3_1000G_EAS_AF=0.7262;p3_1000G_EUR_AF=0.666;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39170090;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.684;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:13,8:21:99:224,0,429
chr3	39130176	rs61746458	G	T	417.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.729;ClippingRankSum=0;DP=50;ExcessHet=3.0103;FS=2.441;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.846;SOR=0.413;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61746458;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|16/28|c.2229+25G>T||||||,T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|15/27|c.2085+25G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=244;p3_1000G_AF=0.048722;p3_1000G_AFR_AF=0.0386;p3_1000G_AMR_AF=0.0043;p3_1000G_AN=5008;p3_1000G_DP=19428;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.0109;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39171667;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=107,3795;ESP6500_AA_GTC=2,103,1846;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=60;ESP6500_EA_AC=93,8165;ESP6500_EA_GTC=1,91,4037;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:intron,NM_001105513.2:intron;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39130176;ESP6500_GTC=3,194,5883;ESP6500_GTS=TT,TG,GG;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.2229+25G>T,NM_001105513.2:c.2085+25G>T;ESP6500_MAF=1.1262,2.7422,1.6447;ESP6500_TAC=200,11960	GT:AD:DP:GQ:PGT:PID:PL	0/1:31,19:50:99:0|1:39130176_G_T:446,0,1245
chr3	39130185	rs35052325	C	T	782.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.2;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.616;SOR=0.792;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35052325;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|16/28|c.2229+34C>T||||||,T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|15/27|c.2085+34C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=627;p3_1000G_AF=0.1252;p3_1000G_AFR_AF=0.1339;p3_1000G_AMR_AF=0.1758;p3_1000G_AN=5008;p3_1000G_DP=19358;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.1203;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39171676;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=464,3410;ESP6500_AA_GTC=27,410,1500;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=55;ESP6500_EA_AC=1050,7196;ESP6500_EA_GTC=74,902,3147;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:intron,NM_001105513.2:intron;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39130185;ESP6500_GTC=101,1312,4647;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.2229+34C>T,NM_001105513.2:c.2085+34C>T;ESP6500_MAF=12.7334,11.9773,12.4917;ESP6500_TAC=1514,10606	GT:AD:DP:GQ:PGT:PID:PL	0/1:21,32:53:99:1|0:39130176_G_T:811,0,765
chr3	39130676	rs79860510	G	A	278.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.011;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.882;SOR=0.582;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs79860510;dbSNPBuildID=131;ANN=A|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|17/28|c.2341-25G>A||||||,A|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|16/27|c.2197-25G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=317;p3_1000G_AF=0.0632987;p3_1000G_AFR_AF=0.0756;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=20620;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39172167;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0297;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=275,3755;ESP6500_AA_GTC=13,249,1753;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=2.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=78;ESP6500_EA_AC=107,8225;ESP6500_EA_GTC=1,105,4060;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:intron,NM_001105513.2:intron;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39130676;ESP6500_GTC=14,354,5813;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.2341-25G>A,NM_001105513.2:c.2197-25G>A;ESP6500_MAF=1.2842,6.8238,3.0901;ESP6500_TAC=382,11980	GT:AD:DP:GQ:PL	0/1:14,13:27:99:307,0,371
chr3	39131151	rs12637881	G	A	180.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.035;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=2.276;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.545;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12637881;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|19/28|c.2583+56G>A||||||,A|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|18/27|c.2439+56G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=614;p3_1000G_AF=0.122604;p3_1000G_AFR_AF=0.1331;p3_1000G_AMR_AF=0.17;p3_1000G_AN=5008;p3_1000G_DP=21068;p3_1000G_EAS_AF=0.128;p3_1000G_EUR_AF=0.1163;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39172642;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0757;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,7:13:99:209,0,177
chr3	39134085	rs784492	G	T	301.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.59;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.473;SOR=0.914;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs784492;dbSNPBuildID=86;ANN=T|upstream_gene_variant|MODIFIER|MIR6822|MIR6822|transcript|NR_106880.1|pseudogene||n.-4121G>T|||||4121|,T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|20/28|c.2773-133G>T||||||,T|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|19/27|c.2629-133G>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=3337;p3_1000G_AF=0.666334;p3_1000G_AFR_AF=0.3835;p3_1000G_AMR_AF=0.719;p3_1000G_AN=5008;p3_1000G_DP=21726;p3_1000G_EAS_AF=0.7659;p3_1000G_EUR_AF=0.7575;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39175576;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8149;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,11:20:99:330,0,243
chr3	39136747	rs784494	A	C	439.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.83;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs784494;dbSNPBuildID=86;ANN=C|upstream_gene_variant|MODIFIER|MIR6822|MIR6822|transcript|NR_106880.1|pseudogene||n.-1459A>C|||||1459|,C|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|23/28|c.3117-152A>C||||||,C|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|22/27|c.2973-152A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4563;p3_1000G_AF=0.911142;p3_1000G_AFR_AF=0.9418;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=18324;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.8857;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39178238;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:468,39,0
chr3	39138418	rs784497	G	A	620.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.777;ClippingRankSum=0;DP=54;ExcessHet=3.0103;FS=1.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.408;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs784497;dbSNPBuildID=86;ANN=A|downstream_gene_variant|MODIFIER|MIR6822|MIR6822|transcript|NR_106880.1|pseudogene||n.*152G>A|||||152|,A|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding||c.*4637C>T|||||3433|,A|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding||c.*4637C>T|||||3433|,A|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding||c.*4637C>T|||||3433|,A|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|27/28|c.3817+31G>A||||||,A|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|26/27|c.3673+31G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2672;p3_1000G_AF=0.533546;p3_1000G_AFR_AF=0.152;p3_1000G_AMR_AF=0.6513;p3_1000G_AN=5008;p3_1000G_DP=20245;p3_1000G_EAS_AF=0.7054;p3_1000G_EUR_AF=0.659;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39179909;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6595;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1110,2966;ESP6500_AA_GTC=135,840,1063;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=40;ESP6500_EA_AC=5440,2876;ESP6500_EA_GTC=1794,1852,512;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:intron,NM_001105513.2:intron;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39138418;ESP6500_GTC=1929,2692,1575;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.3817+31G>A,NM_001105513.2:c.3673+31G>A;ESP6500_MAF=34.5839,27.2326,47.1433;ESP6500_TAC=6550,5842	GT:AD:DP:GQ:PL	0/1:30,24:54:99:649,0,878
chr3	39138608	rs784498	T	C	889.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.785;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=2.205;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.077;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs784498;dbSNPBuildID=86;ANN=C|synonymous_variant|LOW|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|28/29|c.3870T>C|p.Ile1290Ile|4047/4255|3870/3963|1290/1320||,C|synonymous_variant|LOW|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|27/28|c.3726T>C|p.Ile1242Ile|3903/4111|3726/3819|1242/1272||,C|downstream_gene_variant|MODIFIER|MIR6822|MIR6822|transcript|NR_106880.1|pseudogene||n.*342T>C|||||342|,C|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding||c.*4447A>G|||||3243|,C|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding||c.*4447A>G|||||3243|,C|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding||c.*4447A>G|||||3243|;p3_1000G_AA=C|||;p3_1000G_AC=3540;p3_1000G_AF=0.706869;p3_1000G_AFR_AF=0.5189;p3_1000G_AMR_AF=0.7435;p3_1000G_AN=5008;p3_1000G_DP=21037;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.7654;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39180099;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8129;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2435,1579;ESP6500_AA_GTC=739,957,311;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=-10.3;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=110;ESP6500_EA_AC=6255,2071;ESP6500_EA_GTC=2385,1485,293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:coding-synonymous,NM_001105513.2:coding-synonymous;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39138608;ESP6500_GTC=3124,2442,604;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.3870T>C,NM_001105513.2:c.3726T>C;ESP6500_HGVS_PROTEIN_VAR=NM_145755.2:p.(I1290),NM_001105513.2:p.(I1242);ESP6500_MAF=24.8739,39.3373,29.5786;ESP6500_TAC=8690,3650	GT:AD:DP:GQ:PL	0/1:25,36:61:99:918,0,559
chr3	39138671	rs811969	A	C	817.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.9;ClippingRankSum=0;DP=56;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.075;SOR=0.671;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs811969;dbSNPBuildID=86;ANN=C|downstream_gene_variant|MODIFIER|MIR6822|MIR6822|transcript|NR_106880.1|pseudogene||n.*405A>C|||||405|,C|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding||c.*4384T>G|||||3180|,C|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding||c.*4384T>G|||||3180|,C|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding||c.*4384T>G|||||3180|,C|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|28/28|c.3886-40A>C||||||,C|intron_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|27/27|c.3742-40A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2773;p3_1000G_AF=0.553714;p3_1000G_AFR_AF=0.1589;p3_1000G_AMR_AF=0.6614;p3_1000G_AN=5008;p3_1000G_DP=19991;p3_1000G_EAS_AF=0.7321;p3_1000G_EUR_AF=0.6799;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39180162;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6973;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1155,2887;ESP6500_AA_GTC=161,833,1027;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=114;ESP6500_EA_AC=5633,2683;ESP6500_EA_GTC=1923,1787,448;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:intron,NM_001105513.2:intron;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39138671;ESP6500_GTC=2084,2620,1475;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.3886-40A>C,NM_001105513.2:c.3742-40A>C;ESP6500_MAF=32.2631,28.575,45.072;ESP6500_TAC=6788,5570	GT:AD:DP:GQ:PL	0/1:27,29:56:99:846,0,714
chr3	39138728	rs2293313	C	T	412.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.65;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=4.925;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.434;SOR=1.585;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293313;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|29/29|c.3903C>T|p.Pro1301Pro|4080/4255|3903/3963|1301/1320||,T|synonymous_variant|LOW|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|28/28|c.3759C>T|p.Pro1253Pro|3936/4111|3759/3819|1253/1272||,T|downstream_gene_variant|MODIFIER|MIR6822|MIR6822|transcript|NR_106880.1|pseudogene||n.*462C>T|||||462|,T|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding||c.*4327G>A|||||3123|,T|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding||c.*4327G>A|||||3123|,T|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding||c.*4327G>A|||||3123|;p3_1000G_AA=C|||;p3_1000G_AC=302;p3_1000G_AF=0.0603035;p3_1000G_AFR_AF=0.0643;p3_1000G_AMR_AF=0.0331;p3_1000G_AN=5008;p3_1000G_DP=18756;p3_1000G_EAS_AF=0.1518;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39180219;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0297;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=266,3612;ESP6500_AA_GTC=13,240,1686;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=90;ESP6500_EA_AC=106,8128;ESP6500_EA_GTC=1,104,4012;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_145755.2:coding-synonymous,NM_001105513.2:coding-synonymous;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39138728;ESP6500_GTC=14,344,5698;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.3903C>T,NM_001105513.2:c.3759C>T;ESP6500_HGVS_PROTEIN_VAR=NM_145755.2:p.(P1301),NM_001105513.2:p.(P1253);ESP6500_MAF=1.2873,6.8592,3.0713;ESP6500_TAC=372,11740	GT:AD:DP:GQ:PL	0/1:19,17:36:99:441,0,457
chr3	39138772	rs704959	G	A	304.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.59;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=1.529;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=0.444;SOR=1.288;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs704959;dbSNPBuildID=86;ANN=A|missense_variant|MODERATE|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding|29/29|c.3947G>A|p.Arg1316Lys|4124/4255|3947/3963|1316/1320||,A|missense_variant|MODERATE|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding|28/28|c.3803G>A|p.Arg1268Lys|3980/4111|3803/3819|1268/1272||,A|downstream_gene_variant|MODIFIER|MIR6822|MIR6822|transcript|NR_106880.1|pseudogene||n.*506G>A|||||506|,A|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding||c.*4283C>T|||||3079|,A|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding||c.*4283C>T|||||3079|,A|downstream_gene_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding||c.*4283C>T|||||3079|;p3_1000G_AA=G|||;p3_1000G_AC=2735;p3_1000G_AF=0.546126;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.6571;p3_1000G_AN=5008;p3_1000G_DP=17827;p3_1000G_EAS_AF=0.7252;p3_1000G_EUR_AF=0.666;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39180263;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6851;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=984,2752;ESP6500_AA_GTC=119,746,1003;ESP6500_CDS_SIZES=NM_145755.2:3963,NM_001105513.2:3819;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=52;ESP6500_EA_AC=5400,2794;ESP6500_EA_GTC=1789,1822,486;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145755.2:missense,NM_001105513.2:missense;ESP6500_GL=TTC21A;ESP6500_GRCh38_POSITION=3:39138772;ESP6500_GS=26,26;ESP6500_GTC=1908,2568,1489;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_145755.2:c.3947G>A,NM_001105513.2:c.3803G>A;ESP6500_HGVS_PROTEIN_VAR=NM_145755.2:p.(R1316K),NM_001105513.2:p.(R1268K);ESP6500_MAF=34.0981,26.3383,46.4878;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=6384,5546	GT:AD:DP:GQ:PL	0/1:17,12:29:99:333,0,444
chr3	39143468	rs1274958	C	T	777.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.161;ClippingRankSum=0;DP=89;ExcessHet=3.0103;FS=2.91;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=1.29;SOR=0.839;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1274958;dbSNPBuildID=87;ANN=T|missense_variant|MODERATE|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding|5/5|c.1417G>A|p.Val473Ile|1702/3319|1417/1830|473/609||,T|missense_variant|MODERATE|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding|5/5|c.1357G>A|p.Val453Ile|1571/3188|1357/1770|453/589||,T|missense_variant|MODERATE|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding|5/5|c.1357G>A|p.Val453Ile|1503/3120|1357/1770|453/589||,T|downstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding||c.*4680C>T|||||4565|,T|downstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding||c.*4680C>T|||||4565|;p3_1000G_AA=T|||;p3_1000G_AC=3929;p3_1000G_AF=0.784545;p3_1000G_AFR_AF=0.795;p3_1000G_AMR_AF=0.7709;p3_1000G_AN=5008;p3_1000G_DP=20934;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.7694;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39184959;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3547,859;ESP6500_AA_AGE=337.8+/-305.0;ESP6500_AA_GTC=1433,681,89;ESP6500_CDS_SIZES=NM_033027.3:1770;ESP6500_CG=0.7;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_87;ESP6500_DP=61;ESP6500_EA_AC=6479,2121;ESP6500_EA_AGE=363.9+/-333.3;ESP6500_EA_GTC=2475,1529,296;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033027.3:missense;ESP6500_GL=CSRNP1;ESP6500_GRCh38_POSITION=3:39143468;ESP6500_GS=29;ESP6500_GTC=3908,2210,385;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033027.3:c.1357G>A;ESP6500_HGVS_PROTEIN_VAR=NM_033027.3:p.(V453I);ESP6500_MAF=24.6628,19.4961,22.9125;ESP6500_PH=benign:0.0;ESP6500_TAC=10026,2980	GT:AD:DP:GQ:PL	0/1:54,34:88:99:806,0,1504
chr3	39143757	rs784519	A	G	2119.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=59;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.5;SOR=0.95;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs784519;dbSNPBuildID=86;ANN=G|synonymous_variant|LOW|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding|5/5|c.1128T>C|p.Ser376Ser|1413/3319|1128/1830|376/609||,G|synonymous_variant|LOW|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding|5/5|c.1068T>C|p.Ser356Ser|1282/3188|1068/1770|356/589||,G|synonymous_variant|LOW|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding|5/5|c.1068T>C|p.Ser356Ser|1214/3120|1068/1770|356/589||,G|downstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_145755.2|protein_coding||c.*4969A>G|||||4854|,G|downstream_gene_variant|MODIFIER|TTC21A|TTC21A|transcript|NM_001105513.2|protein_coding||c.*4969A>G|||||4854|;p3_1000G_AA=G|||;p3_1000G_AC=4552;p3_1000G_AF=0.908946;p3_1000G_AFR_AF=0.9334;p3_1000G_AMR_AF=0.9409;p3_1000G_AN=5008;p3_1000G_DP=21175;p3_1000G_EAS_AF=0.8948;p3_1000G_EUR_AF=0.8857;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39185248;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4107,299;ESP6500_AA_AGE=163.6+/-195.4;ESP6500_AA_GTC=1915,277,11;ESP6500_CDS_SIZES=NM_033027.3:1770;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=64;ESP6500_EA_AC=7514,1086;ESP6500_EA_AGE=226.6+/-262.3;ESP6500_EA_GTC=3296,922,82;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033027.3:coding-synonymous;ESP6500_GL=CSRNP1;ESP6500_GRCh38_POSITION=3:39143757;ESP6500_GTC=5211,1199,93;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033027.3:c.1068T>C;ESP6500_HGVS_PROTEIN_VAR=NM_033027.3:p.(S356);ESP6500_MAF=12.6279,6.7862,10.6489;ESP6500_TAC=11621,1385	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2148,177,0
chr3	39144477	rs810743	A	G	1062.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3;ClippingRankSum=0;DP=86;ExcessHet=3.0103;FS=0.818;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.546;SOR=0.729;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs810743;dbSNPBuildID=86;ANN=G|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding|3/4|c.526-26T>C||||||,G|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding|3/4|c.466-26T>C||||||,G|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding|3/4|c.466-26T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3813;p3_1000G_AF=0.761382;p3_1000G_AFR_AF=0.7186;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=18519;p3_1000G_EAS_AF=0.7669;p3_1000G_EUR_AF=0.7624;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39185968;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8139;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3239,1157;ESP6500_AA_GTC=1196,847,155;ESP6500_CDS_SIZES=NM_033027.3:1770;ESP6500_CG=4.0;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=24;ESP6500_EA_AC=6460,2128;ESP6500_EA_GTC=2471,1518,305;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033027.3:intron;ESP6500_GL=CSRNP1;ESP6500_GRCh38_POSITION=3:39144477;ESP6500_GTC=3667,2365,460;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_033027.3:c.466-26T>C;ESP6500_MAF=24.7788,26.3194,25.3004;ESP6500_TAC=9699,3285	GT:AD:DP:GQ:PL	0/1:48,38:86:99:1091,0,1251
chr3	39146367	rs13084317	G	A	560.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.358;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=1.547;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=0.639;SOR=0.361;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13084317;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding|2/4|c.265+111C>T||||||,A|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding|2/4|c.205+111C>T||||||,A|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding|2/4|c.205+111C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1526;p3_1000G_AF=0.304712;p3_1000G_AFR_AF=0.5091;p3_1000G_AMR_AF=0.3343;p3_1000G_AN=5008;p3_1000G_DP=18757;p3_1000G_EAS_AF=0.121;p3_1000G_EUR_AF=0.3002;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39187858;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2014;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,26:35:99:589,0,213
chr3	39146691	rs13084580	C	T	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.2;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=-0.09;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13084580;dbSNPBuildID=121;ANN=T|missense_variant|MODERATE|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding|2/5|c.52G>A|p.Gly18Ser|337/3319|52/1830|18/609||,T|5_prime_UTR_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding|2/5|c.-9G>A|||||9|,T|5_prime_UTR_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding|2/5|c.-9G>A|||||9|;p3_1000G_AA=c|||;p3_1000G_AC=586;p3_1000G_AF=0.117013;p3_1000G_AFR_AF=0.1286;p3_1000G_AMR_AF=0.1686;p3_1000G_AN=5008;p3_1000G_DP=19614;p3_1000G_EAS_AF=0.1181;p3_1000G_EUR_AF=0.1014;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39188182;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0798;p3_1000G_VT=SNP;ESP6500_AA_AC=462,3932;ESP6500_AA_GTC=22,418,1757;ESP6500_CDS_SIZES=NM_033027.3:1770;ESP6500_CG=-6.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_121;ESP6500_DP=43;ESP6500_EA_AC=977,7589;ESP6500_EA_GTC=69,839,3375;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_033027.3:utr-5;ESP6500_GL=CSRNP1;ESP6500_GRCh38_POSITION=3:39146691;ESP6500_GTC=91,1257,5132;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_033027.3:c.-9G>A;ESP6500_MAF=11.4056,10.5143,11.1034;ESP6500_TAC=1439,11521	GT:AD:DP:GQ:PL	0/1:23,12:35:99:295,0,560
chr3	39147046	rs10593849;rs539129932;rs67693778;rs769263524	AACAC	A	1274.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.45;SOR=1.432;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs67693778,rs10593849;dbSNPBuildID=144,142,132,129;ANN=A|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding|1/4|c.20+76_20+79delGTGT||||||,A|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding|1/4|c.-40-328_-40-325delGTGT||||||,A|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding|1/4|c.-40-328_-40-325delGTGT||||||	GT:AD:DP:GQ:PL	1/0:0,17:17:99:1312,647,617
chr3	39147046	.	AACAC	AAC	1274.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=40;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;QD=34.45;SOR=1.432;DEL;HET;VARTYPE=DEL;ANN=AAC|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding|1/4|c.20+76_20+77delGT||||||,AAC|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding|1/4|c.-40-328_-40-327delGT||||||,AAC|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding|1/4|c.-40-328_-40-327delGT||||||	GT:AD:DP:GQ:PL	0/1:0,20:20:99:1312,564,465
chr3	39147211	rs139326499	C	CTGTG	191.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.713;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=4.434;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.869;SOR=0.18;INS;HET;VARTYPE=INS;dbSNP138_ID=rs139326499;dbSNPBuildID=134;ANN=CTGTG|5_prime_UTR_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320559.1|protein_coding|1/5|c.-70_-67dupCACA|||||67|,CTGTG|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_033027.3|protein_coding|1/4|c.-40-493_-40-490dupCACA||||||,CTGTG|intron_variant|MODIFIER|CSRNP1|CSRNP1|transcript|NM_001320560.1|protein_coding|1/4|c.-40-493_-40-490dupCACA||||||;p3_1000G_AC=2796;p3_1000G_AF=0.558307;p3_1000G_AFR_AF=0.4508;p3_1000G_AMR_AF=0.6427;p3_1000G_AN=5008;p3_1000G_DP=19848;p3_1000G_EAS_AF=0.5605;p3_1000G_EUR_AF=0.5686;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39188702;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:9,6:15:99:229,0,407
chr3	39184261	rs61736128	C	G	1063.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.08;ClippingRankSum=0;DP=67;ExcessHet=3.0103;FS=2.021;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-0.305;SOR=0.566;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs61736128;dbSNPBuildID=129;ANN=G|missense_variant|MODERATE|XIRP1|XIRP1|transcript|NM_194293.2|protein_coding|2/2|c.5185G>C|p.Val1729Leu|5406/6451|5185/5532|1729/1843||,G|3_prime_UTR_variant|MODIFIER|XIRP1|XIRP1|transcript|NM_001198621.2|protein_coding|3/3|c.*1392G>C|||||1392|;p3_1000G_AA=C|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=18782;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39225752;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1115,3291;ESP6500_AA_AGE=401.0+/-331.8;ESP6500_AA_GTC=152,811,1240;ESP6500_CDS_SIZES=NM_194293.2:5532,NM_001198621.1:3366;ESP6500_CG=1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=90;ESP6500_EA_AC=21,8579;ESP6500_EA_AGE=13.3+/-46.6;ESP6500_EA_GTC=0,21,4279;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194293.2:missense,NM_001198621.1:utr-3;ESP6500_GL=XIRP1;ESP6500_GRCh38_POSITION=3:39184261;ESP6500_GS=32,.;ESP6500_GTC=152,832,5519;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_194293.2:c.5185G>C,NM_001198621.1:c.*1392G>C;ESP6500_HGVS_PROTEIN_VAR=NM_194293.2:p.(V1729L),.;ESP6500_MAF=0.2442,25.3064,8.7344;ESP6500_PH=benign:0.005,.;ESP6500_TAC=1136,11870	GT:AD:DP:GQ:PL	0/1:34,33:67:99:1092,0,912
chr3	39184636	rs3732383	C	T	1064.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.672;ClippingRankSum=0;DP=94;ExcessHet=3.0103;FS=3.809;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.6;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732383;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|XIRP1|XIRP1|transcript|NM_194293.2|protein_coding|2/2|c.4810G>A|p.Gly1604Arg|5031/6451|4810/5532|1604/1843||,T|3_prime_UTR_variant|MODIFIER|XIRP1|XIRP1|transcript|NM_001198621.2|protein_coding|3/3|c.*1017G>A|||||1017|;p3_1000G_AA=C|||;p3_1000G_AC=655;p3_1000G_AF=0.130791;p3_1000G_AFR_AF=0.0121;p3_1000G_AMR_AF=0.1354;p3_1000G_AN=5008;p3_1000G_DP=20886;p3_1000G_EAS_AF=0.1419;p3_1000G_EUR_AF=0.2207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39226127;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.184;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=208,4198;ESP6500_AA_AGE=131.0+/-167.6;ESP6500_AA_GTC=6,196,2001;ESP6500_CDS_SIZES=NM_194293.2:5532,NM_001198621.1:3366;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=191;ESP6500_EA_AC=1931,6669;ESP6500_EA_AGE=341.2+/-323.9;ESP6500_EA_GTC=222,1487,2591;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194293.2:missense,NM_001198621.1:utr-3;ESP6500_GL=XIRP1;ESP6500_GRCh38_POSITION=3:39184636;ESP6500_GS=125,.;ESP6500_GTC=228,1683,4592;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_194293.2:c.4810G>A,NM_001198621.1:c.*1017G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194293.2:p.(G1604R),.;ESP6500_MAF=22.4535,4.7208,16.4463;ESP6500_PH=benign:0.003,.;ESP6500_TAC=2139,10867	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1093,0,1472
chr3	39184945	rs58805228	C	T	560.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.428;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-1.478;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs58805228;dbSNPBuildID=129;ANN=T|missense_variant|MODERATE|XIRP1|XIRP1|transcript|NM_194293.2|protein_coding|2/2|c.4501G>A|p.Val1501Met|4722/6451|4501/5532|1501/1843||,T|3_prime_UTR_variant|MODIFIER|XIRP1|XIRP1|transcript|NM_001198621.2|protein_coding|3/3|c.*708G>A|||||708|;p3_1000G_AA=c|||;p3_1000G_AC=516;p3_1000G_AF=0.103035;p3_1000G_AFR_AF=0.2776;p3_1000G_AMR_AF=0.121;p3_1000G_AN=5008;p3_1000G_DP=19286;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39226436;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1021,3213;ESP6500_AA_GTC=122,777,1218;ESP6500_CDS_SIZES=NM_194293.2:5532,NM_001198621.1:3366;ESP6500_CG=2.2;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=34;ESP6500_EA_AC=18,8510;ESP6500_EA_GTC=0,18,4246;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194293.2:missense,NM_001198621.1:utr-3;ESP6500_GL=XIRP1;ESP6500_GRCh38_POSITION=3:39184945;ESP6500_GS=21,.;ESP6500_GTC=122,795,5464;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_194293.2:c.4501G>A,NM_001198621.1:c.*708G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194293.2:p.(V1501M),.;ESP6500_MAF=0.2111,24.1143,8.1414;ESP6500_PH=possibly-damaging:0.783,.;ESP6500_TAC=1039,11723	GT:AD:DP:GQ:PL	0/1:13,22:35:99:589,0,381
chr3	39185119	rs75731397	C	T	622.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.875;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=2.48;SOR=0.787;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs75731397;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|XIRP1|XIRP1|transcript|NM_194293.2|protein_coding|2/2|c.4327G>A|p.Gly1443Ser|4548/6451|4327/5532|1443/1843||,T|3_prime_UTR_variant|MODIFIER|XIRP1|XIRP1|transcript|NM_001198621.2|protein_coding|3/3|c.*534G>A|||||534|;p3_1000G_AA=C|||;p3_1000G_AC=206;p3_1000G_AF=0.0411342;p3_1000G_AFR_AF=0.0575;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=17533;p3_1000G_EAS_AF=0.0546;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39226610;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0102;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=268,4138;ESP6500_AA_AGE=145.4+/-180.2;ESP6500_AA_GTC=9,250,1944;ESP6500_CDS_SIZES=NM_194293.2:5532,NM_001198621.1:3366;ESP6500_CG=-7.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_131;ESP6500_DP=59;ESP6500_EA_AC=9,8591;ESP6500_EA_AGE=6.4+/-24.3;ESP6500_EA_GTC=0,9,4291;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194293.2:missense,NM_001198621.1:utr-3;ESP6500_GL=XIRP1;ESP6500_GRCh38_POSITION=3:39185119;ESP6500_GS=56,.;ESP6500_GTC=9,259,6235;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_194293.2:c.4327G>A,NM_001198621.1:c.*534G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194293.2:p.(G1443S),.;ESP6500_MAF=0.1047,6.0826,2.1298;ESP6500_PH=benign:0.0,.;ESP6500_TAC=277,12729	GT:AD:DP:GQ:PL	0/1:19,23:42:99:651,0,525
chr3	39187553	rs11129816	C	T	1377.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.482;ClippingRankSum=0;DP=108;ExcessHet=3.0103;FS=5.122;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.373;SOR=1.286;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11129816;dbSNPBuildID=120;ANN=T|synonymous_variant|LOW|XIRP1|XIRP1|transcript|NM_194293.2|protein_coding|2/2|c.1893G>A|p.Lys631Lys|2114/6451|1893/5532|631/1843||,T|synonymous_variant|LOW|XIRP1|XIRP1|transcript|NM_001198621.2|protein_coding|2/3|c.1893G>A|p.Lys631Lys|2124/6035|1893/3366|631/1121||;p3_1000G_AA=C|||;p3_1000G_AC=155;p3_1000G_AF=0.0309505;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=19258;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39229044;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=39,4367;ESP6500_AA_AGE=42.3+/-75.8;ESP6500_AA_GTC=0,39,2164;ESP6500_CDS_SIZES=NM_194293.2:5532,NM_001198621.1:3366;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=66;ESP6500_EA_AC=95,8505;ESP6500_EA_AGE=54.0+/-114.7;ESP6500_EA_GTC=0,95,4205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194293.2:coding-synonymous,NM_001198621.1:coding-synonymous;ESP6500_GL=XIRP1;ESP6500_GRCh38_POSITION=3:39187553;ESP6500_GTC=0,134,6369;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_194293.2:c.1893G>A,NM_001198621.1:c.1893G>A;ESP6500_HGVS_PROTEIN_VAR=NM_194293.2:p.(K631),NM_001198621.1:p.(K631);ESP6500_MAF=1.1047,0.8852,1.0303;ESP6500_TAC=134,12872	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1406,0,1604
chr3	39188409	rs6805248	T	C	1988.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.15;SOR=0.831;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6805248;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|XIRP1|XIRP1|transcript|NM_194293.2|protein_coding|2/2|c.1037A>G|p.Gln346Arg|1258/6451|1037/5532|346/1843||,C|missense_variant|MODERATE|XIRP1|XIRP1|transcript|NM_001198621.2|protein_coding|2/3|c.1037A>G|p.Gln346Arg|1268/6035|1037/3366|346/1121||;p3_1000G_AA=C|||;p3_1000G_AC=4975;p3_1000G_AF=0.993411;p3_1000G_AFR_AF=0.9766;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=18105;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39229900;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=4336,70;ESP6500_AA_AGE=62.9+/-100.1;ESP6500_AA_GTC=2133,70,0;ESP6500_CDS_SIZES=NM_194293.2:5532,NM_001198621.1:3366;ESP6500_CG=3.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=86;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_194293.2:missense,NM_001198621.1:missense;ESP6500_GL=XIRP1;ESP6500_GRCh38_POSITION=3:39188409;ESP6500_GS=43,43;ESP6500_GTC=6433,70,0;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_194293.2:c.1037A>G,NM_001198621.1:c.1037A>G;ESP6500_HGVS_PROTEIN_VAR=NM_194293.2:p.(Q346R),NM_001198621.1:p.(Q346R);ESP6500_MAF=0.0,1.5887,0.5382;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=12936,70	GT:AD:DP:GQ:PL	1/1:0,60:60:99:2017,180,0
chr3	39189119	rs80147433	G	A	912.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.31;ClippingRankSum=0;DP=96;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.179;SOR=0.776;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80147433;dbSNPBuildID=132;ANN=A|synonymous_variant|LOW|XIRP1|XIRP1|transcript|NM_194293.2|protein_coding|2/2|c.327C>T|p.His109His|548/6451|327/5532|109/1843||,A|synonymous_variant|LOW|XIRP1|XIRP1|transcript|NM_001198621.2|protein_coding|2/3|c.327C>T|p.His109His|558/6035|327/3366|109/1121||;p3_1000G_AA=G|||;p3_1000G_AC=151;p3_1000G_AF=0.0301518;p3_1000G_AFR_AF=0.0038;p3_1000G_AMR_AF=0.0288;p3_1000G_AN=5008;p3_1000G_DP=17880;p3_1000G_EAS_AF=0.0813;p3_1000G_EUR_AF=0.0119;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39230610;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0327;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=22,4384;ESP6500_AA_AGE=29.0+/-57.7;ESP6500_AA_GTC=0,22,2181;ESP6500_CDS_SIZES=NM_194293.2:5532,NM_001198621.1:3366;ESP6500_CG=-7.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_132;ESP6500_DP=71;ESP6500_EA_AC=95,8505;ESP6500_EA_AGE=54.0+/-114.7;ESP6500_EA_GTC=0,95,4205;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_194293.2:coding-synonymous,NM_001198621.1:coding-synonymous;ESP6500_GL=XIRP1;ESP6500_GRCh38_POSITION=3:39189119;ESP6500_GTC=0,117,6386;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_194293.2:c.327C>T,NM_001198621.1:c.327C>T;ESP6500_HGVS_PROTEIN_VAR=NM_194293.2:p.(H109),NM_001198621.1:p.(H109);ESP6500_MAF=1.1047,0.4993,0.8996;ESP6500_TAC=117,12889	GT:AD:DP:GQ:PL	0/1:56,40:96:99:941,0,1344
chr3	39189506	rs2271487	A	G	256.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.1;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271487;dbSNPBuildID=100;ANN=G|5_prime_UTR_variant|MODIFIER|XIRP1|XIRP1|transcript|NM_194293.2|protein_coding|2/2|c.-61T>C|||||61|,G|5_prime_UTR_variant|MODIFIER|XIRP1|XIRP1|transcript|NM_001198621.2|protein_coding|2/3|c.-61T>C|||||61|;p3_1000G_AA=A|||;p3_1000G_AC=1801;p3_1000G_AF=0.359625;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.3602;p3_1000G_AN=5008;p3_1000G_DP=18071;p3_1000G_EAS_AF=0.2421;p3_1000G_EUR_AF=0.3897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39230997;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3323;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,8:8:24:285,24,0
chr3	39281672	rs11715522	A	C	558.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.06;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.273;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.615;SOR=0.811;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11715522;dbSNPBuildID=120;ANN=C|missense_variant|MODERATE|CX3CR1|CX3CR1|transcript|NM_001171174.1|protein_coding|1/2|c.24T>G|p.Phe8Leu|64/3152|24/1164|8/387||,C|upstream_gene_variant|MODIFIER|CX3CR1|CX3CR1|transcript|NM_001337.3|protein_coding||c.-15163T>G|||||1636|,C|upstream_gene_variant|MODIFIER|CX3CR1|CX3CR1|transcript|NM_001171172.1|protein_coding||c.-15163T>G|||||1233|,C|upstream_gene_variant|MODIFIER|CX3CR1|CX3CR1|transcript|NM_001171171.1|protein_coding||c.-15163T>G|||||399|;p3_1000G_AA=A|||;p3_1000G_AC=2118;p3_1000G_AF=0.422923;p3_1000G_AFR_AF=0.1694;p3_1000G_AMR_AF=0.487;p3_1000G_AN=5008;p3_1000G_DP=19276;p3_1000G_EAS_AF=0.6895;p3_1000G_EUR_AF=0.4135;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39323163;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.455;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=622,2514;ESP6500_AA_GTC=56,510,1002;ESP6500_CDS_SIZES=NM_001171174.1:1164;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=82;ESP6500_EA_AC=2763,4401;ESP6500_EA_GTC=533,1697,1352;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001171174.1:missense;ESP6500_GL=CX3CR1;ESP6500_GRCh38_POSITION=3:39281672;ESP6500_GS=22;ESP6500_GTC=589,2207,2354;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_001171174.1:c.24T>G;ESP6500_HGVS_PROTEIN_VAR=NM_001171174.1:p.(F8L);ESP6500_MAF=38.5678,19.8342,32.8641;ESP6500_TAC=3385,6915	GT:AD:DP:GQ:PL	0/1:17,20:37:99:587,0,398
chr3	39389590	rs2270770;281680	G	A	690.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.634;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=3.783;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.799;SOR=0.442;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2270770;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|SLC25A38|SLC25A38|transcript|NM_017875.2|protein_coding|2/7|c.165G>A|p.Leu55Leu|566/2124|165/915|55/304||;p3_1000G_AA=G|||;p3_1000G_AC=2084;p3_1000G_AF=0.416134;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.5;p3_1000G_AN=5008;p3_1000G_DP=20316;p3_1000G_EAS_AF=0.6141;p3_1000G_EUR_AF=0.508;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39431081;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5092;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=638,3768;ESP6500_AA_AGE=273.4+/-271.3;ESP6500_AA_GTC=49,540,1614;ESP6500_CDS_SIZES=NM_017875.2:915;ESP6500_CG=1.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=132;ESP6500_EA_AC=4171,4429;ESP6500_EA_AGE=568.4+/-389.0;ESP6500_EA_GTC=1040,2091,1169;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017875.2:coding-synonymous;ESP6500_GL=SLC25A38;ESP6500_GRCh38_POSITION=3:39389590;ESP6500_GTC=1089,2631,2783;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017875.2:c.165G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017875.2:p.(L55);ESP6500_MAF=48.5,14.4803,36.9752;ESP6500_TAC=4809,8197;CLINVAR_AF_ESP=0.3698;CLINVAR_AF_EXAC=0.48199;CLINVAR_AF_TGP=0.4161;CLINVAR_ALLELEID=265917;CLINVAR_CLNDISDB=Human_Phenotype_Ontology:HP:0004828,MedGen:C1264195,Orphanet:ORPHA75564,SNOMED_CT:109998009|MedGen:C0221018,OMIM:300751,Orphanet:ORPHA98362,SNOMED_CT:62677000|MedGen:CN169374;CLINVAR_CLNDN=Refractory_anemia_with_ringed_sideroblasts_(clinical)|Hereditary_sideroblastic_anemia|not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.39389590G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32099;CLINVAR_GENEINFO=SLC25A38:54977;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2270770	GT:AD:DP:GQ:PL	0/1:26,29:55:99:719,0,807
chr3	39391656	rs1995236	G	A	2227.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=68;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.76;SOR=1.751;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1995236;dbSNPBuildID=92;ANN=A|intron_variant|MODIFIER|SLC25A38|SLC25A38|transcript|NM_017875.2|protein_coding|4/6|c.456+36G>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4190;p3_1000G_AF=0.836661;p3_1000G_AFR_AF=0.5862;p3_1000G_AMR_AF=0.9625;p3_1000G_AN=5008;p3_1000G_DP=19992;p3_1000G_EAS_AF=0.9286;p3_1000G_EUR_AF=0.995;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39433147;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8282;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2796,1610;ESP6500_AA_AGE=497.6+/-363.9;ESP6500_AA_GTC=884,1028,291;ESP6500_CDS_SIZES=NM_017875.2:915;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=66;ESP6500_EA_AC=8552,48;ESP6500_EA_AGE=30.1+/-81.4;ESP6500_EA_GTC=4253,46,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017875.2:intron;ESP6500_GL=SLC25A38;ESP6500_GRCh38_POSITION=3:39391656;ESP6500_GTC=5137,1074,292;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017875.2:c.456+36G>A;ESP6500_MAF=0.5581,36.5411,12.748;ESP6500_TAC=11348,1658	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2256,204,0
chr3	39396309	rs9877539	A	G	1938.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=60;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.31;SOR=1.942;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9877539;dbSNPBuildID=119;ANN=G|intron_variant|MODIFIER|SLC25A38|SLC25A38|transcript|NM_017875.2|protein_coding|6/6|c.793-89A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4390;p3_1000G_AF=0.876597;p3_1000G_AFR_AF=0.7277;p3_1000G_AMR_AF=0.9784;p3_1000G_AN=5008;p3_1000G_DP=21317;p3_1000G_EAS_AF=0.9315;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39437800;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1967,180,0
chr3	39407646	rs1803893;403395	T	C	593.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.55;ClippingRankSum=0;DP=52;ExcessHet=3.0103;FS=2.477;MLEAC=1;MLEAF=0.5;MQ=58.36;MQRankSum=-1.069;QD=11.42;ReadPosRankSum=-0.235;SOR=1.236;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1803893;dbSNPBuildID=89;ANN=C|5_prime_UTR_variant|MODIFIER|RPSA|RPSA|transcript|NM_001304288.1|protein_coding|2/7|c.-8T>C|||||8|,C|5_prime_UTR_variant|MODIFIER|RPSA|RPSA|transcript|NM_002295.5|protein_coding|2/7|c.-8T>C|||||8|,C|upstream_gene_variant|MODIFIER|SNORA6|SNORA6|transcript|NR_002325.1|pseudogene||n.-745T>C|||||745|,C|upstream_gene_variant|MODIFIER|SNORA62|SNORA62|transcript|NR_002324.1|pseudogene||n.-3408T>C|||||3408|;p3_1000G_AA=C|||;p3_1000G_AC=2187;p3_1000G_AF=0.436701;p3_1000G_AFR_AF=0.5492;p3_1000G_AMR_AF=0.4697;p3_1000G_AN=5008;p3_1000G_DP=21245;p3_1000G_EAS_AF=0.3194;p3_1000G_EUR_AF=0.496;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39449137;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3211;p3_1000G_VT=SNP;CLINVAR_ALLELEID=389608;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.39407646T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=RPSA:3921;CLINVAR_ORIGIN=1;CLINVAR_RS=1803893	GT:AD:DP:GQ:PL	0/1:31,21:52:99:622,0,766
chr3	39410632	rs2077797	G	A	37.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.189;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=3.136;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.4;ReadPosRankSum=0.566;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2077797;dbSNPBuildID=96;ANN=A|upstream_gene_variant|MODIFIER|SNORA62|SNORA62|transcript|NR_002324.1|pseudogene||n.-422G>A|||||422|,A|downstream_gene_variant|MODIFIER|SNORA6|SNORA6|transcript|NR_002325.1|pseudogene||n.*2093G>A|||||2093|,A|intron_variant|MODIFIER|RPSA|RPSA|transcript|NM_001304288.1|protein_coding|3/6|c.268-122G>A||||||,A|intron_variant|MODIFIER|RPSA|RPSA|transcript|NM_002295.5|protein_coding|3/6|c.253-122G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1996;p3_1000G_AF=0.398562;p3_1000G_AFR_AF=0.031;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=20711;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39452123;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,3:7:66:0|1:39410632_G_A:66,0,148
chr3	39410638	rs2077799	G	T	295.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.19;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2077799;dbSNPBuildID=96;ANN=T|upstream_gene_variant|MODIFIER|SNORA62|SNORA62|transcript|NR_002324.1|pseudogene||n.-416G>T|||||416|,T|downstream_gene_variant|MODIFIER|SNORA6|SNORA6|transcript|NR_002325.1|pseudogene||n.*2099G>T|||||2099|,T|intron_variant|MODIFIER|RPSA|RPSA|transcript|NM_001304288.1|protein_coding|3/6|c.268-116G>T||||||,T|intron_variant|MODIFIER|RPSA|RPSA|transcript|NM_002295.5|protein_coding|3/6|c.253-116G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2565;p3_1000G_AF=0.512181;p3_1000G_AFR_AF=0.3578;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=20861;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39452129;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:39410632_G_A:324,24,0
chr3	39411566	rs2269349	C	T	1412.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=43;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.86;SOR=1.455;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2269349;dbSNPBuildID=100;ANN=T|downstream_gene_variant|MODIFIER|SNORA6|SNORA6|transcript|NR_002325.1|pseudogene||n.*3027C>T|||||3027|,T|downstream_gene_variant|MODIFIER|SNORA62|SNORA62|transcript|NR_002324.1|pseudogene||n.*359C>T|||||359|,T|intron_variant|MODIFIER|RPSA|RPSA|transcript|NM_001304288.1|protein_coding|4/6|c.514-83C>T||||||,T|intron_variant|MODIFIER|RPSA|RPSA|transcript|NM_002295.5|protein_coding|4/6|c.499-83C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=2565;p3_1000G_AF=0.512181;p3_1000G_AFR_AF=0.3578;p3_1000G_AMR_AF=0.5504;p3_1000G_AN=5008;p3_1000G_DP=21115;p3_1000G_EAS_AF=0.6528;p3_1000G_EUR_AF=0.5298;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39453057;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5307;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1441,129,0
chr3	39412119	rs2723	C	T	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.023;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.83;SOR=0.84;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2723;dbSNPBuildID=36;ANN=T|downstream_gene_variant|MODIFIER|SNORA6|SNORA6|transcript|NR_002325.1|pseudogene||n.*3580C>T|||||3580|,T|downstream_gene_variant|MODIFIER|SNORA62|SNORA62|transcript|NR_002324.1|pseudogene||n.*912C>T|||||912|,T|intron_variant|MODIFIER|RPSA|RPSA|transcript|NM_001304288.1|protein_coding|6/6|c.808+58C>T||||||,T|intron_variant|MODIFIER|RPSA|RPSA|transcript|NM_002295.5|protein_coding|6/6|c.793+58C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1997;p3_1000G_AF=0.398762;p3_1000G_AFR_AF=0.0318;p3_1000G_AMR_AF=0.4914;p3_1000G_AN=5008;p3_1000G_DP=21621;p3_1000G_EAS_AF=0.6121;p3_1000G_EUR_AF=0.499;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39453610;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:27,19:46:99:543,0,755
chr3	39513455	rs552724	C	T	430.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.487;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=3.532;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.284;SOR=1.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs552724;dbSNPBuildID=83;ANN=T|3_prime_UTR_variant|MODIFIER|MOBP|MOBP|transcript|NM_001278322.1|protein_coding|5/5|c.*72C>T|||||72|,T|3_prime_UTR_variant|MODIFIER|MOBP|MOBP|transcript|NM_182935.3|protein_coding|4/4|c.*33C>T|||||33|,T|non_coding_transcript_exon_variant|MODIFIER|MOBP|MOBP|transcript|NR_103506.1|pseudogene|3/3|n.325C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MOBP|MOBP|transcript|NR_003090.2|pseudogene|4/6|n.535C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MOBP|MOBP|transcript|NR_103504.1|pseudogene|5/7|n.877C>T||||||,T|non_coding_transcript_exon_variant|MODIFIER|MOBP|MOBP|transcript|NR_103505.1|pseudogene|5/7|n.915C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=978;p3_1000G_AF=0.195288;p3_1000G_AFR_AF=0.2254;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=20038;p3_1000G_EAS_AF=0.2242;p3_1000G_EUR_AF=0.1998;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=39554946;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1104;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1024,3382;ESP6500_AA_AGE=378.5+/-322.9;ESP6500_AA_GTC=123,778,1302;ESP6500_CDS_SIZES=NM_182935.2:246;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=99;ESP6500_EA_AC=1683,6917;ESP6500_EA_AGE=309.4+/-309.4;ESP6500_EA_GTC=148,1387,2765;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_182935.2:utr-3;ESP6500_GL=MOBP;ESP6500_GRCh38_POSITION=3:39513455;ESP6500_GTC=271,2165,4067;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_182935.2:c.*33C>T;ESP6500_MAF=19.5698,23.241,20.8135;ESP6500_TAC=2707,10299	GT:AD:DP:GQ:PL	0/1:9,21:30:99:459,0,211
chr3	40166756	rs10460959	G	T	141.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.799;ClippingRankSum=0;DP=14;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.344;SOR=1.27;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10460959;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_001284423.1|protein_coding|5/16|c.551-90G>T||||||,T|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_001284424.1|protein_coding|5/15|c.551-90G>T||||||,T|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_001284425.1|protein_coding|4/15|c.284-90G>T||||||,T|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_015460.3|protein_coding|5/16|c.551-90G>T||||||,T|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NR_104316.1|pseudogene|5/16|n.838-90G>T||||||,T|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_001284426.1|protein_coding|3/14|c.-11-90G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1216;p3_1000G_AF=0.242812;p3_1000G_AFR_AF=0.0673;p3_1000G_AMR_AF=0.2464;p3_1000G_AN=5008;p3_1000G_DP=19438;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.2535;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40208247;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4039;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:7,7:14:99:170,0,221
chr3	40166959	rs12494283	C	G	566.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.529;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.255;SOR=0.848;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12494283;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_001284423.1|protein_coding|6/16|c.648+16C>G||||||,G|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_001284424.1|protein_coding|6/15|c.648+16C>G||||||,G|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_001284425.1|protein_coding|5/15|c.381+16C>G||||||,G|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_015460.3|protein_coding|6/16|c.648+16C>G||||||,G|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NR_104316.1|pseudogene|6/16|n.935+16C>G||||||,G|intron_variant|MODIFIER|MYRIP|MYRIP|transcript|NM_001284426.1|protein_coding|4/14|c.87+16C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=1230;p3_1000G_AF=0.245607;p3_1000G_AFR_AF=0.0802;p3_1000G_AMR_AF=0.2478;p3_1000G_AN=5008;p3_1000G_DP=18256;p3_1000G_EAS_AF=0.3036;p3_1000G_EUR_AF=0.2555;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40208450;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3978;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=548,3858;ESP6500_AA_AGE=245.3+/-254.3;ESP6500_AA_GTC=39,470,1694;ESP6500_CDS_SIZES=NM_015460.2:2580;ESP6500_CG=0.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=40;ESP6500_EA_AC=2336,6264;ESP6500_EA_AGE=387.9+/-342.4;ESP6500_EA_GTC=345,1646,2309;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015460.2:intron;ESP6500_GL=MYRIP;ESP6500_GRCh38_POSITION=3:40166959;ESP6500_GTC=384,2116,4003;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_015460.2:c.648+16C>G;ESP6500_MAF=27.1628,12.4376,22.1744;ESP6500_TAC=2884,10122	GT:AD:DP:GQ:PL	0/1:15,21:36:99:595,0,492
chr3	40190392	rs1317317	C	T	1696.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.3;SOR=0.841;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1317317;dbSNPBuildID=88;ANN=T|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_001284423.1|protein_coding|10/17|c.1594C>T|p.Leu532Leu|1692/4832|1594/2580|532/859||,T|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_001284424.1|protein_coding|10/16|c.1594C>T|p.Leu532Leu|1881/4826|1594/2385|532/794||,T|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_001284425.1|protein_coding|9/16|c.1327C>T|p.Leu443Leu|1744/4884|1327/2313|443/770||,T|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_015460.3|protein_coding|10/17|c.1594C>T|p.Leu532Leu|1881/5021|1594/2580|532/859||,T|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_001284426.1|protein_coding|8/15|c.1033C>T|p.Leu345Leu|1502/4642|1033/2019|345/672||,T|intron_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene|2/2|n.537-15670G>A||||||,T|non_coding_transcript_exon_variant|MODIFIER|MYRIP|MYRIP|transcript|NR_104316.1|pseudogene|10/17|n.1881C>T||||||;p3_1000G_AA=c|||;p3_1000G_AC=4169;p3_1000G_AF=0.832468;p3_1000G_AFR_AF=0.7511;p3_1000G_AMR_AF=0.9179;p3_1000G_AN=5008;p3_1000G_DP=14741;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.9026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40231883;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8436;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3414,992;ESP6500_AA_AGE=711.3+/-408.0;ESP6500_AA_GTC=1339,736,128;ESP6500_CDS_SIZES=NM_015460.2:2580;ESP6500_CG=-2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=36;ESP6500_EA_AC=7742,858;ESP6500_EA_AGE=757.3+/-407.5;ESP6500_EA_GTC=3488,766,46;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015460.2:coding-synonymous;ESP6500_GL=MYRIP;ESP6500_GRCh38_POSITION=3:40190392;ESP6500_GTC=4827,1502,174;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_015460.2:c.1594C>T;ESP6500_HGVS_PROTEIN_VAR=NM_015460.2:p.(L532);ESP6500_MAF=9.9767,22.5148,14.2242;ESP6500_TAC=11156,1850	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1725,168,0
chr3	40244526	rs4618168	T	C	1361.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.26;SOR=0.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4618168;dbSNPBuildID=111;ANN=C|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_001284423.1|protein_coding|13/17|c.2181T>C|p.Ser727Ser|2279/4832|2181/2580|727/859||,C|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_001284424.1|protein_coding|12/16|c.1986T>C|p.Ser662Ser|2273/4826|1986/2385|662/794||,C|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_001284425.1|protein_coding|12/16|c.1914T>C|p.Ser638Ser|2331/4884|1914/2313|638/770||,C|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_015460.3|protein_coding|13/17|c.2181T>C|p.Ser727Ser|2468/5021|2181/2580|727/859||,C|synonymous_variant|LOW|MYRIP|MYRIP|transcript|NM_001284426.1|protein_coding|11/15|c.1620T>C|p.Ser540Ser|2089/4642|1620/2019|540/672||,C|intron_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene|2/2|n.536+56711A>G||||||,C|non_coding_transcript_exon_variant|MODIFIER|MYRIP|MYRIP|transcript|NR_104316.1|pseudogene|13/17|n.2431T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3248;p3_1000G_AF=0.648562;p3_1000G_AFR_AF=0.7965;p3_1000G_AMR_AF=0.4712;p3_1000G_AN=5008;p3_1000G_DP=17394;p3_1000G_EAS_AF=0.7629;p3_1000G_EUR_AF=0.4254;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40286017;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6861;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3259,1147;ESP6500_AA_AGE=406.6+/-333.9;ESP6500_AA_GTC=1212,835,156;ESP6500_CDS_SIZES=NM_015460.2:2580;ESP6500_CG=-5.1;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=62;ESP6500_EA_AC=3823,4777;ESP6500_EA_AGE=611.0+/-395.8;ESP6500_EA_GTC=882,2059,1359;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_015460.2:coding-synonymous;ESP6500_GL=MYRIP;ESP6500_GRCh38_POSITION=3:40244526;ESP6500_GTC=2094,2894,1515;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_015460.2:c.2181T>C;ESP6500_HGVS_PROTEIN_VAR=NM_015460.2:p.(S727);ESP6500_MAF=44.4535,26.0327,45.5482;ESP6500_TAC=7082,5924	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1390,135,0
chr3	40309993	rs11709089	C	T	1795.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=57;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.5;SOR=1.823;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11709089;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene||n.-295G>A|||||295|,T|intron_variant|MODIFIER|EIF1B|EIF1B|transcript|NM_005875.2|protein_coding|1/3|c.31+21C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1912;p3_1000G_AF=0.381789;p3_1000G_AFR_AF=0.2201;p3_1000G_AMR_AF=0.33;p3_1000G_AN=5008;p3_1000G_DP=12596;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.3131;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40351484;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1184,3222;ESP6500_AA_AGE=415.0+/-337.0;ESP6500_AA_GTC=162,860,1181;ESP6500_CDS_SIZES=NM_005875.2:342;ESP6500_CG=1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=83;ESP6500_EA_AC=2788,5812;ESP6500_EA_AGE=442.2+/-360.0;ESP6500_EA_GTC=476,1836,1988;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005875.2:intron;ESP6500_GL=EIF1B;ESP6500_GRCh38_POSITION=3:40309993;ESP6500_GTC=638,2696,3169;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_005875.2:c.31+21C>T;ESP6500_MAF=32.4186,26.8724,30.5398;ESP6500_TAC=3972,9034	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1824,171,0
chr3	40310864	rs553290310;rs762286126	ATT	A	308.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.421;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.503;SOR=1.022;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144,142;ANN=A|upstream_gene_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene||n.-1168_-1167delAA|||||1167|,A|intron_variant|MODIFIER|EIF1B|EIF1B|transcript|NM_005875.2|protein_coding|1/3|c.32-14_32-13delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:3,6:9:95:346,159,223
chr3	40310864	.	ATT	AT	308.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.421;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.503;SOR=1.022;DEL;HET;VARTYPE=DEL;ANN=AT|upstream_gene_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene||n.-1168delA|||||1168|,AT|intron_variant|MODIFIER|EIF1B|EIF1B|transcript|NM_005875.2|protein_coding|1/3|c.32-13delT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,10:13:95:346,95,100
chr3	40311149	rs1454490	A	G	241.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.73;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1454490;dbSNPBuildID=88;ANN=G|upstream_gene_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene||n.-1451T>C|||||1451|,G|intron_variant|MODIFIER|EIF1B|EIF1B|transcript|NM_005875.2|protein_coding|2/3|c.195+93A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4780;p3_1000G_AF=0.954473;p3_1000G_AFR_AF=0.8548;p3_1000G_AMR_AF=0.9769;p3_1000G_AN=5008;p3_1000G_DP=17362;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.994;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40352640;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9857;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,6:6:18:1|1:40311149_A_G:270,18,0
chr3	40311156	rs1454491	C	G	293.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.72;SOR=1.863;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1454491;dbSNPBuildID=88;ANN=G|upstream_gene_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene||n.-1458G>C|||||1458|,G|intron_variant|MODIFIER|EIF1B|EIF1B|transcript|NM_005875.2|protein_coding|2/3|c.195+100C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2175;p3_1000G_AF=0.434305;p3_1000G_AFR_AF=0.41;p3_1000G_AMR_AF=0.3458;p3_1000G_AN=5008;p3_1000G_DP=17517;p3_1000G_EAS_AF=0.6042;p3_1000G_EUR_AF=0.3141;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40352647;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4785;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,8:8:24:1|1:40311149_A_G:322,24,0
chr3	40311393	rs1454492	C	T	585.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.54;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1454492;dbSNPBuildID=88;ANN=T|upstream_gene_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene||n.-1695G>A|||||1695|,T|intron_variant|MODIFIER|EIF1B|EIF1B|transcript|NM_005875.2|protein_coding|2/3|c.196-77C>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=2467;p3_1000G_AF=0.492612;p3_1000G_AFR_AF=0.4781;p3_1000G_AMR_AF=0.3804;p3_1000G_AN=5008;p3_1000G_DP=17302;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.3628;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40352884;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,18:18:54:614,54,0
chr3	40311934	rs34544743	CAG	C	635.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=24.84;SOR=1.473;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs34544743;dbSNPBuildID=126;ANN=C|upstream_gene_variant|MODIFIER|EIF1B-AS1|EIF1B-AS1|transcript|NR_033965.1|pseudogene||n.-2238_-2237delCT|||||2237|,C|intron_variant|MODIFIER|EIF1B|EIF1B|transcript|NM_005875.2|protein_coding|3/3|c.298-33_298-32delAG||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2420;p3_1000G_AF=0.483227;p3_1000G_AFR_AF=0.4433;p3_1000G_AMR_AF=0.379;p3_1000G_AN=5008;p3_1000G_DP=17946;p3_1000G_EAS_AF=0.6716;p3_1000G_EUR_AF=0.3628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40353425;p3_1000G_GRCH37_REF=CAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5409;p3_1000G_VT=INDEL;ESP6500_AA_AC=1873,2379;ESP6500_AA_GTC=415,1043,668;ESP6500_CDS_SIZES=NM_005875.2:342;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=40;ESP6500_EA_AC=3094,5150;ESP6500_EA_GTC=590,1914,1618;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_005875.2:intron;ESP6500_GL=EIF1B;ESP6500_GRCh38_POSITION=3:40311934;ESP6500_GTC=1005,2957,2286;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_005875.2:c.298-35_298-34del2;ESP6500_MAF=37.5303,44.0499,39.7487;ESP6500_TAC=4967,7529	GT:AD:DP:GQ:PL	1/1:0,15:15:45:673,45,0
chr3	40394399	rs72861689	A	G	3285.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=109;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.42;SOR=1.343;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs72861689;dbSNPBuildID=131;ANN=G|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001248.3|protein_coding|3/10|c.168+2249A>G||||||,G|intron_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene|3/3|n.421-1830T>C||||||,G|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001291961.1|protein_coding|3/10|c.168+2249A>G||||||,G|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001291960.1|protein_coding|3/10|c.168+2249A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=1969;p3_1000G_AF=0.393171;p3_1000G_AFR_AF=0.4168;p3_1000G_AMR_AF=0.3228;p3_1000G_AN=5008;p3_1000G_DP=16067;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.2982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40435890;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3314,322,0
chr3	40400789	rs9875245	G	T	782.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.31;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9875245;dbSNPBuildID=119;ANN=T|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001248.3|protein_coding|3/10|c.169-105G>T||||||,T|intron_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene|2/3|n.266-1161C>A||||||,T|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001291961.1|protein_coding|3/10|c.169-105G>T||||||,T|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001291960.1|protein_coding|3/10|c.169-105G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1462;p3_1000G_AF=0.291933;p3_1000G_AFR_AF=0.0628;p3_1000G_AMR_AF=0.2882;p3_1000G_AN=5008;p3_1000G_DP=19368;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40442280;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:811,66,0
chr3	40401083	rs112091498	AGAGGTCC	A	772.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.63;SOR=2.303;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs112091498;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001248.3|protein_coding|4/10|c.286+73_286+79delGAGGTCC||||||,A|intron_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene|2/3|n.266-1462_266-1456delGGACCTC||||||,A|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001291961.1|protein_coding|4/10|c.286+73_286+79delGAGGTCC||||||,A|intron_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001291960.1|protein_coding|4/10|c.286+73_286+79delGAGGTCC||||||;p3_1000G_AC=1420;p3_1000G_AF=0.283546;p3_1000G_AFR_AF=0.0325;p3_1000G_AMR_AF=0.2853;p3_1000G_AN=5008;p3_1000G_DP=20951;p3_1000G_EAS_AF=0.5218;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40442574;p3_1000G_GRCH37_REF=AGAGGTCC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3712;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,18:18:54:810,54,0
chr3	40427405	rs1047855	C	T	1713.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.953;ClippingRankSum=0;DP=138;ExcessHet=3.0103;FS=6.243;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.382;SOR=0.585;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1047855;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|ENTPD3|ENTPD3|transcript|NM_001248.3|protein_coding|11/11|c.1487C>T|p.Ala496Val|1605/2826|1487/1590|496/529||,T|missense_variant|MODERATE|ENTPD3|ENTPD3|transcript|NM_001291960.1|protein_coding|11/11|c.1487C>T|p.Ala496Val|1646/2867|1487/1590|496/529||,T|downstream_gene_variant|MODIFIER|ENTPD3|ENTPD3|transcript|NM_001291961.1|protein_coding||c.*2633C>T|||||2406|,T|intron_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene|2/3|n.265+24300G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1392;p3_1000G_AF=0.277955;p3_1000G_AFR_AF=0.0378;p3_1000G_AMR_AF=0.2867;p3_1000G_AN=5008;p3_1000G_DP=21086;p3_1000G_EAS_AF=0.4881;p3_1000G_EUR_AF=0.2883;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40468896;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3691;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=376,4030;ESP6500_AA_AGE=191.9+/-217.4;ESP6500_AA_GTC=23,330,1850;ESP6500_CDS_SIZES=NM_001248.2:1590;ESP6500_CG=-1.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=107;ESP6500_EA_AC=2551,6049;ESP6500_EA_AGE=416.3+/-352.1;ESP6500_EA_GTC=397,1757,2146;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001248.2:missense;ESP6500_GL=ENTPD3;ESP6500_GRCh38_POSITION=3:40427405;ESP6500_GS=64;ESP6500_GTC=420,2087,3996;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001248.2:c.1487C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001248.2:p.(A496V);ESP6500_MAF=29.6628,8.5338,22.505;ESP6500_PH=benign:0.004;ESP6500_TAC=2927,10079	GT:AD:DP:GQ:PL	0/1:66,72:138:99:1742,0,1756
chr3	40457354	rs2276868	C	T	448.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.111;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=2.066;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=0.835;SOR=1.402;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276868;dbSNPBuildID=100;ANN=T|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|1/6|c.-118C>T||||||,T|5_prime_UTR_premature_start_codon_gain_variant|LOW|RPL14|RPL14|transcript|NM_003973.4|protein_coding|1/6|c.-7C>T||||||,T|5_prime_UTR_variant|MODIFIER|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|1/6|c.-118C>T|||||118|,T|5_prime_UTR_variant|MODIFIER|RPL14|RPL14|transcript|NM_003973.4|protein_coding|1/6|c.-7C>T|||||7|,T|upstream_gene_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene||n.-4046G>A|||||4046|;p3_1000G_AA=C|||;p3_1000G_AC=2359;p3_1000G_AF=0.471046;p3_1000G_AFR_AF=0.2769;p3_1000G_AMR_AF=0.6354;p3_1000G_AN=5008;p3_1000G_DP=16194;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.6829;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40498845;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4591;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1392,3014;ESP6500_AA_AGE=449.6+/-349.1;ESP6500_AA_GTC=229,934,1040;ESP6500_CDS_SIZES=NM_003973.4:648,NM_001034996.2:648;ESP6500_CG=5.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=58;ESP6500_EA_AC=5833,2767;ESP6500_EA_AGE=665.6+/-402.3;ESP6500_EA_GTC=2002,1829,469;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003973.4:utr-5,NM_001034996.2:utr-5;ESP6500_GL=RPL14;ESP6500_GRCh38_POSITION=3:40457354;ESP6500_GTC=2231,2763,1509;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003973.4:c.-7C>T,NM_001034996.2:c.-118C>T;ESP6500_MAF=32.1744,31.5933,44.4487;ESP6500_TAC=7225,5781	GT:AD:DP:GQ:PL	0/1:7,16:23:99:477,0,151
chr3	40457429	rs2276869	A	T	237.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.137;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.658;SOR=0.795;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276869;dbSNPBuildID=100;ANN=T|5_prime_UTR_variant|MODIFIER|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|1/6|c.-43A>T|||||43|,T|upstream_gene_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene||n.-4121T>A|||||4121|,T|intron_variant|MODIFIER|RPL14|RPL14|transcript|NM_003973.4|protein_coding|1/5|c.3+66A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=158;p3_1000G_AF=0.0315495;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0216;p3_1000G_AN=5008;p3_1000G_DP=14153;p3_1000G_EAS_AF=0.1349;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40498920;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0072;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2,4398;ESP6500_AA_GTC=0,2,2198;ESP6500_CDS_SIZES=NM_003973.4:648,NM_001034996.2:648;ESP6500_CG=-2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=24;ESP6500_EA_AC=2,8594;ESP6500_EA_GTC=0,2,4296;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003973.4:intron,NM_001034996.2:utr-5;ESP6500_GL=RPL14;ESP6500_GRCh38_POSITION=3:40457429;ESP6500_GTC=0,4,6494;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_003973.4:c.3+66A>T,NM_001034996.2:c.-43A>T;ESP6500_MAF=0.0233,0.0455,0.0308;ESP6500_TAC=4,12992	GT:AD:DP:GQ:PL	0/1:11,14:25:99:266,0,265
chr3	40457442	rs4973904	A	G	908.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=24;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.38;SOR=0.859;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4973904;dbSNPBuildID=111;ANN=G|5_prime_UTR_variant|MODIFIER|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|1/6|c.-30A>G|||||30|,G|upstream_gene_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene||n.-4134T>C|||||4134|,G|intron_variant|MODIFIER|RPL14|RPL14|transcript|NM_003973.4|protein_coding|1/5|c.3+79A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=4862;p3_1000G_AF=0.970847;p3_1000G_AFR_AF=0.8986;p3_1000G_AMR_AF=0.9914;p3_1000G_AN=5008;p3_1000G_DP=13237;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40498933;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.998;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4058,342;ESP6500_AA_GTC=1873,312,15;ESP6500_CDS_SIZES=NM_003973.4:648,NM_001034996.2:648;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=19;ESP6500_EA_AC=8538,46;ESP6500_EA_GTC=4246,46,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003973.4:intron,NM_001034996.2:utr-5;ESP6500_GL=RPL14;ESP6500_GRCh38_POSITION=3:40457442;ESP6500_GTC=6119,358,15;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_003973.4:c.3+79A>G,NM_001034996.2:c.-30A>G;ESP6500_MAF=0.5359,7.7727,2.9883;ESP6500_TAC=12596,388	GT:AD:DP:GQ:PL	1/1:0,24:24:72:937,72,0
chr3	40457510	rs554888231	GGCCCTTCCCGGACTCGC	G	184.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.125;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.858;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=1.41;SOR=0.105;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=G|upstream_gene_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene||n.-4219_-4203delGCGAGTCCGGGAAGGGC|||||4203|,G|intron_variant|MODIFIER|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|1/5|c.3+54_3+70delGCCCTTCCCGGACTCGC||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|RPL14|RPL14|transcript|NM_003973.4|protein_coding|1/5|c.3+165_3+181delGCCCTTCCCGGACTCGC||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=17;p3_1000G_AF=0.00339457;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=14224;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40499001;p3_1000G_GRCH37_REF=GGCCCTTCCCGGACTCGC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL;ESP6500_AA_AC=10,3148;ESP6500_AA_GTC=1,8,1570;ESP6500_CDS_SIZES=NM_003973.4:648,NM_001034996.2:648;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DP=7;ESP6500_EA_AC=17,6667;ESP6500_EA_GTC=3,11,3328;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003973.4:intron,NM_001034996.2:intron;ESP6500_GL=RPL14;ESP6500_GRCh38_POSITION=3:40457510;ESP6500_GTC=4,19,4898;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_003973.4:c.3+148_3+164del17,NM_001034996.2:c.3+37_3+53del17;ESP6500_MAF=0.2543,0.3167,0.2743;ESP6500_TAC=27,9815	GT:AD:DP:GQ:PL	0/1:10,6:16:99:222,0,390
chr3	40457782	rs2276871	A	G	232.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.046;ClippingRankSum=0;DP=18;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.229;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276871;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|ENTPD3-AS1|ENTPD3-AS1|transcript|NR_040100.1|pseudogene||n.-4474T>C|||||4474|,G|intron_variant|MODIFIER|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|1/5|c.4-108A>G||||||,G|intron_variant|MODIFIER|RPL14|RPL14|transcript|NM_003973.4|protein_coding|1/5|c.4-108A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3200;p3_1000G_AF=0.638978;p3_1000G_AFR_AF=0.733;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=19113;p3_1000G_EAS_AF=0.4821;p3_1000G_EUR_AF=0.7018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40499273;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5736;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:8,10:18:99:261,0,211
chr3	40462029	rs369485042;rs57354599	A	ACTGCTG	893.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.93;QD=35.32;SOR=1.609;INS;HET;VARTYPE=INS;dbSNPBuildID=138,129;ANN=ACTGCTG|conservative_inframe_insertion|MODERATE|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|6/6|c.472_477dupGCTGCT|p.Ala158_Ala159dup|611/921|478/648|160/215||INFO_REALIGN_3_PRIME,ACTGCTG|conservative_inframe_insertion|MODERATE|RPL14|RPL14|transcript|NM_003973.4|protein_coding|6/6|c.472_477dupGCTGCT|p.Ala158_Ala159dup|547/857|478/648|160/215||INFO_REALIGN_3_PRIME;p3_1000G_AC=358;p3_1000G_AF=0.0714856;p3_1000G_AFR_AF=0.0333;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=14209;p3_1000G_EAS_AF=0.1131;p3_1000G_EUR_AF=0.0328;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40503520;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/0:0,7:7:99:931,380,337
chr3	40462029	rs369485042;rs57354599	A	ACTGCTGCTGCTGCTG	893.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;DP=26;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=55.93;QD=35.32;SOR=1.609;INS;HET;VARTYPE=INS;dbSNPBuildID=138,129;ANN=ACTGCTGCTGCTGCTG|conservative_inframe_insertion|MODERATE|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|6/6|c.463_477dupGCTGCTGCTGCTGCT|p.Ala155_Ala159dup|611/921|478/648|160/215||INFO_REALIGN_3_PRIME,ACTGCTGCTGCTGCTG|conservative_inframe_insertion|MODERATE|RPL14|RPL14|transcript|NM_003973.4|protein_coding|6/6|c.463_477dupGCTGCTGCTGCTGCT|p.Ala155_Ala159dup|547/857|478/648|160/215||INFO_REALIGN_3_PRIME;p3_1000G_AC=948;p3_1000G_AF=0.189297;p3_1000G_AFR_AF=0.0855;p3_1000G_AMR_AF=0.2248;p3_1000G_AN=5008;p3_1000G_DP=14209;p3_1000G_EAS_AF=0.1548;p3_1000G_EUR_AF=0.3012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40503520;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.2249;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:0,9:9:99:931,308,262
chr3	40462318	rs11539046	G	A	73.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.65;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=3.979;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.524;SOR=2.833;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11539046;dbSNPBuildID=120;ANN=A|3_prime_UTR_variant|MODIFIER|RPL14|RPL14|transcript|NM_001034996.2|protein_coding|6/6|c.*86G>A|||||86|,A|3_prime_UTR_variant|MODIFIER|RPL14|RPL14|transcript|NM_003973.4|protein_coding|6/6|c.*86G>A|||||86|;p3_1000G_AA=A|||;p3_1000G_AC=3316;p3_1000G_AF=0.662141;p3_1000G_AFR_AF=0.7534;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=15752;p3_1000G_EAS_AF=0.5149;p3_1000G_EUR_AF=0.7018;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40503809;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6309;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,3:5:34:102,0,34
chr3	40477938	rs4553952	T	C	1167.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=39;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.94;SOR=0.85;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4553952;dbSNPBuildID=111;ANN=C|5_prime_UTR_variant|MODIFIER|ZNF619|ZNF619|transcript|NM_001145082.2|protein_coding|2/6|c.-42T>C|||||42|,C|5_prime_UTR_variant|MODIFIER|ZNF619|ZNF619|transcript|NM_001145093.2|protein_coding|2/5|c.-42T>C|||||42|,C|5_prime_UTR_variant|MODIFIER|ZNF619|ZNF619|transcript|NM_001145083.1|protein_coding|2/4|c.-20T>C|||||20|,C|non_coding_transcript_exon_variant|MODIFIER|ZNF619|ZNF619|transcript|NR_026746.2|pseudogene|2/6|n.266T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4973;p3_1000G_AF=0.993011;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9841;p3_1000G_AN=5008;p3_1000G_DP=19731;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9851;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40519429;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9908;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1379,5;ESP6500_AA_GTC=687,5,0;ESP6500_CDS_SIZES=NM_001145093.2:1731,NM_001145083.1:1599,NM_001145082.2:1851;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=122;ESP6500_EA_AC=3125,57;ESP6500_EA_GTC=1535,55,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145093.2:utr-5,NM_001145083.1:utr-5,NM_001145082.2:utr-5;ESP6500_GL=ZNF619;ESP6500_GRCh38_POSITION=3:40477938;ESP6500_GTC=2222,60,1;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001145093.2:c.-42T>C,NM_001145083.1:c.-20T>C,NM_001145082.2:c.-42T>C;ESP6500_MAF=1.7913,0.3613,1.3579;ESP6500_TAC=4504,62	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1196,117,0
chr3	40478041	rs4128740	C	A	456.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.717;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=4.398;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.824;SOR=0.157;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4128740;dbSNPBuildID=108;ANN=A|intron_variant|MODIFIER|ZNF619|ZNF619|transcript|NM_001145082.2|protein_coding|2/5|c.24+38C>A||||||,A|intron_variant|MODIFIER|ZNF619|ZNF619|transcript|NM_001145093.2|protein_coding|2/4|c.24+38C>A||||||,A|intron_variant|MODIFIER|ZNF619|ZNF619|transcript|NR_026746.2|pseudogene|2/5|n.331+38C>A||||||,A|intron_variant|MODIFIER|ZNF619|ZNF619|transcript|NM_001145083.1|protein_coding|2/3|c.46+38C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1447;p3_1000G_AF=0.288938;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.2925;p3_1000G_AN=5008;p3_1000G_DP=21624;p3_1000G_EAS_AF=0.4812;p3_1000G_EUR_AF=0.2883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40519532;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3681;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=176,1208;ESP6500_AA_GTC=13,150,529;ESP6500_CDS_SIZES=NM_001145093.2:1731,NM_001145083.1:1599,NM_001145082.2:1851;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=92;ESP6500_EA_AC=932,2250;ESP6500_EA_GTC=145,642,804;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001145093.2:intron,NM_001145083.1:intron,NM_001145082.2:intron;ESP6500_GL=ZNF619;ESP6500_GRCh38_POSITION=3:40478041;ESP6500_GTC=158,792,1333;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_001145093.2:c.24+38C>A,NM_001145083.1:c.46+38C>A,NM_001145082.2:c.24+38C>A;ESP6500_MAF=29.2898,12.7168,24.2663;ESP6500_TAC=1108,3458	GT:AD:DP:GQ:PL	0/1:7,20:27:99:485,0,182
chr3	40511425	rs6790578	T	C	4787.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=140;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.44;SOR=0.929;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6790578;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_175888.3|protein_coding|2/4|c.25-45T>C||||||,C|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_001256167.1|protein_coding|2/2|c.-77-4435T>C||||||,C|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_001256168.1|protein_coding|2/2|c.-77-4435T>C||||||;p3_1000G_AA=t|||;p3_1000G_AC=1644;p3_1000G_AF=0.328275;p3_1000G_AFR_AF=0.1475;p3_1000G_AMR_AF=0.3357;p3_1000G_AN=5008;p3_1000G_DP=19086;p3_1000G_EAS_AF=0.4167;p3_1000G_EUR_AF=0.3628;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40552916;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4407;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=854,3552;ESP6500_AA_AGE=335.7+/-304.0;ESP6500_AA_GTC=90,674,1439;ESP6500_CDS_SIZES=NM_175888.3:1269,NM_001256168.1:927,NM_001256167.1:927;ESP6500_CG=-5.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=155;ESP6500_EA_AC=2998,5602;ESP6500_EA_AGE=463.7+/-366.0;ESP6500_EA_GTC=518,1962,1820;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175888.3:intron,NM_001256168.1:intron,NM_001256167.1:intron;ESP6500_GL=ZNF620;ESP6500_GRCh38_POSITION=3:40511425;ESP6500_GTC=608,2636,3259;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_175888.3:c.25-45T>C,NM_001256168.1:c.-4512T>C,NM_001256167.1:c.-4512T>C;ESP6500_MAF=34.8605,19.3827,29.6171;ESP6500_TAC=3852,9154	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4816,417,0
chr3	40515816	rs754222728	GT	G	587.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.548;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.148;SOR=0.941;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_175888.3|protein_coding|4/4|c.266-43delT||||||,G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_001256167.1|protein_coding|2/2|c.-77-43delT||||||,G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_001256168.1|protein_coding|2/2|c.-77-43delT||||||	GT:AD:DP:GQ:PL	0/1:19,24:43:99:625,0,673
chr3	40515818	rs773342146	GTGA	G	544.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.485;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=5.629;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.121;SOR=1.786;DEL;HET;VARTYPE=DEL;dbSNPBuildID=144;ANN=G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_175888.3|protein_coding|4/4|c.266-40_266-38delGAT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_001256167.1|protein_coding|2/2|c.-77-40_-77-38delGAT||||||INFO_REALIGN_3_PRIME,G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_001256168.1|protein_coding|2/2|c.-77-40_-77-38delGAT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:18,24:42:99:582,0,669
chr3	40515821	rs6804333	A	G	85.77	MG_SNP_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.127;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=4.24;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.82;ReadPosRankSum=-0.953;SOR=0.175;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs6804333;dbSNPBuildID=116;ANN=G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_175888.3|protein_coding|4/4|c.266-39A>G||||||,G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_001256167.1|protein_coding|2/2|c.-77-39A>G||||||,G|intron_variant|MODIFIER|ZNF620|ZNF620|transcript|NM_001256168.1|protein_coding|2/2|c.-77-39A>G||||||;p3_1000G_AA=a|||;p3_1000G_AC=1655;p3_1000G_AF=0.330471;p3_1000G_AFR_AF=0.1626;p3_1000G_AMR_AF=0.3401;p3_1000G_AN=5008;p3_1000G_DP=16343;p3_1000G_EAS_AF=0.4127;p3_1000G_EUR_AF=0.3588;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=40557312;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4366;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=911,3495;ESP6500_AA_AGE=330.2+/-301.4;ESP6500_AA_GTC=104,703,1396;ESP6500_CDS_SIZES=NM_175888.3:1269,NM_001256168.1:927,NM_001256167.1:927;ESP6500_CG=-3.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=41;ESP6500_EA_AC=2963,5637;ESP6500_EA_AGE=431.3+/-356.8;ESP6500_EA_GTC=515,1933,1852;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_175888.3:intron,NM_001256168.1:intron,NM_001256167.1:intron;ESP6500_GL=ZNF620;ESP6500_GRCh38_POSITION=3:40515821;ESP6500_GTC=619,2636,3248;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_175888.3:c.266-39A>G,NM_001256168.1:c.-116A>G,NM_001256167.1:c.-116A>G;ESP6500_MAF=34.4535,20.6764,29.7863;ESP6500_TAC=3874,9132	GT:AD:DP:GQ:PL	0/1:37,10:47:99:114,0,1439
chr3	41233273	rs2691680	C	A	772.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.62;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2691680;dbSNPBuildID=100;ANN=A|sequence_feature|LOW|CTNNB1|CTNNB1|repeat:ARM_6|NM_001098210.1|protein_coding|7/15|c.1082-68C>A||||||,A|intron_variant|MODIFIER|CTNNB1|CTNNB1|transcript|NM_001098209.1|protein_coding|7/15|c.1082-68C>A||||||,A|intron_variant|MODIFIER|CTNNB1|CTNNB1|transcript|NM_001098210.1|protein_coding|7/15|c.1082-68C>A||||||,A|intron_variant|MODIFIER|CTNNB1|CTNNB1|transcript|NM_001904.3|protein_coding|7/14|c.1082-68C>A||||||;p3_1000G_AA=A|||;p3_1000G_AC=4975;p3_1000G_AF=0.993411;p3_1000G_AFR_AF=0.9781;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=20700;p3_1000G_EAS_AF=0.997;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41274764;p3_1000G_GRCH37_REF=C;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:801,66,0
chr3	41237949	rs4135385	A	G	227.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.033;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-2.19;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4135385;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|CTNNB1|CTNNB1|transcript|NM_001098209.1|protein_coding|13/15|c.2077-67A>G||||||,G|intron_variant|MODIFIER|CTNNB1|CTNNB1|transcript|NM_001098210.1|protein_coding|13/15|c.2077-67A>G||||||,G|intron_variant|MODIFIER|CTNNB1|CTNNB1|transcript|NM_001904.3|protein_coding|13/14|c.2077-67A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=1166;p3_1000G_AF=0.232827;p3_1000G_AFR_AF=0.0113;p3_1000G_AMR_AF=0.2795;p3_1000G_AN=5008;p3_1000G_DP=17282;p3_1000G_EAS_AF=0.5308;p3_1000G_EUR_AF=0.2366;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41279440;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1881;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=71,1313;ESP6500_AA_GTC=2,67,623;ESP6500_CDS_SIZES=NM_001904.3:2346,NM_001098210.1:2346,NM_001098209.1:2346;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_108;ESP6500_DP=139;ESP6500_EA_AC=702,2480;ESP6500_EA_GTC=79,544,968;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001904.3:intron,NM_001098210.1:intron,NM_001098209.1:intron;ESP6500_GL=CTNNB1;ESP6500_GRCh38_POSITION=3:41237949;ESP6500_GTC=81,611,1591;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001904.3:c.2077-67A>G,NM_001098210.1:c.2077-67A>G,NM_001098209.1:c.2077-67A>G;ESP6500_MAF=22.0616,5.1301,16.9295;ESP6500_TAC=773,3793	GT:AD:DP:GQ:PL	0/1:12,11:23:99:256,0,318
chr3	41239336	rs2293303;128869	C	T	896.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.427;ClippingRankSum=0;DP=72;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.451;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293303;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|CTNNB1|CTNNB1|transcript|NM_001098209.1|protein_coding|15/16|c.2340C>T|p.Asp780Asp|2608/3415|2340/2346|780/781||,T|synonymous_variant|LOW|CTNNB1|CTNNB1|transcript|NM_001098210.1|protein_coding|15/16|c.2340C>T|p.Asp780Asp|2608/3256|2340/2346|780/781||,T|synonymous_variant|LOW|CTNNB1|CTNNB1|transcript|NM_001904.3|protein_coding|15/15|c.2340C>T|p.Asp780Asp|2608/3720|2340/2346|780/781||;p3_1000G_AA=C|||;p3_1000G_AC=216;p3_1000G_AF=0.043131;p3_1000G_AFR_AF=0.0015;p3_1000G_AMR_AF=0.0937;p3_1000G_AN=5008;p3_1000G_DP=19040;p3_1000G_EAS_AF=0.1468;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41280827;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.001;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=17,4389;ESP6500_AA_AGE=23.3+/-48.9;ESP6500_AA_GTC=0,17,2186;ESP6500_CDS_SIZES=NM_001904.3:2346,NM_001098210.1:2346,NM_001098209.1:2346;ESP6500_CG=5.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=33;ESP6500_EA_AC=7,8593;ESP6500_EA_AGE=5.0+/-18.6;ESP6500_EA_GTC=0,7,4293;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001904.3:coding-synonymous,NM_001098210.1:coding-synonymous,NM_001098209.1:coding-synonymous;ESP6500_GL=CTNNB1;ESP6500_GRCh38_POSITION=3:41239336;ESP6500_GTC=0,24,6479;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001904.3:c.2340C>T,NM_001098210.1:c.2340C>T,NM_001098209.1:c.2340C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001904.3:p.(D780),NM_001098210.1:p.(D780),NM_001098209.1:p.(D780);ESP6500_MAF=0.0814,0.3858,0.1845;ESP6500_TAC=24,12982;CLINVAR_AF_ESP=0.0019;CLINVAR_AF_EXAC=0.02743;CLINVAR_AF_TGP=0.0431;CLINVAR_ALLELEID=134317;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41239336C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=CTNNB1:1499;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2293303	GT:AD:DP:GQ:PL	0/1:37,35:72:99:925,0,1102
chr3	41249590	rs2293304	G	A	517.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.295;ClippingRankSum=0;DP=46;ExcessHet=3.0103;FS=1.156;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=1.26;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2293304;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|35/36|c.3679-16C>T||||||,A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|34/35|c.2773-16C>T||||||,A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|33/34|n.3987-16C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=1389;p3_1000G_AF=0.277356;p3_1000G_AFR_AF=0.0908;p3_1000G_AMR_AF=0.3055;p3_1000G_AN=5008;p3_1000G_DP=18509;p3_1000G_EAS_AF=0.2569;p3_1000G_EUR_AF=0.4085;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41291081;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3957;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=593,3571;ESP6500_AA_GTC=52,489,1541;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=31;ESP6500_EA_AC=3715,4711;ESP6500_EA_GTC=796,2123,1294;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:intron;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41249590;ESP6500_GTC=848,2612,2835;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.3679-16C>T;ESP6500_MAF=44.0897,14.2411,34.2176;ESP6500_TAC=4308,8282	GT:AD:DP:GQ:PL	0/1:26,20:46:99:546,0,684
chr3	41455624	rs3816945	C	G	266.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.18;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=0.359;SOR=0.368;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816945;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|33/36|c.3394-29G>C||||||,G|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|32/35|c.2488-29G>C||||||,G|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|31/34|n.3702-29G>C||||||,G|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|33/35|c.3394-29G>C||||||;p3_1000G_AA=c|||;p3_1000G_AC=1538;p3_1000G_AF=0.307109;p3_1000G_AFR_AF=0.3328;p3_1000G_AMR_AF=0.2723;p3_1000G_AN=5008;p3_1000G_DP=17409;p3_1000G_EAS_AF=0.5337;p3_1000G_EUR_AF=0.1461;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41497115;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.229;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1032,2898;ESP6500_AA_GTC=142,748,1075;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=-1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=48;ESP6500_EA_AC=1254,7058;ESP6500_EA_GTC=103,1048,3005;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:intron;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41455624;ESP6500_GTC=245,1796,4080;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.3394-29G>C;ESP6500_MAF=15.0866,26.2595,18.6734;ESP6500_TAC=2286,9956	GT:AD:DP:GQ:PL	0/1:6,10:16:99:295,0,145
chr3	41681921	rs76773524	G	A	177.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.067;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.23;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs76773524;dbSNPBuildID=132;ANN=A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|27/36|c.2782-117C>T||||||,A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|26/35|c.1876-117C>T||||||,A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|25/34|n.3090-117C>T||||||,A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|27/35|c.2782-117C>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=21;p3_1000G_AF=0.00419329;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18660;p3_1000G_EAS_AF=0.0208;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41723412;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,6:11:99:206,0,171
chr3	41800224	rs4973986;403583	A	C	313.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.73;ClippingRankSum=0;DP=42;ExcessHet=3.0103;FS=1.203;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=1.07;SOR=0.941;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4973986;dbSNPBuildID=111;ANN=C|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_017886.3|protein_coding|20/37|c.1918T>G|p.Ser640Ala|2391/4631|1918/3828|640/1275||,C|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|19/36|c.1012T>G|p.Ser338Ala|2315/4555|1012/2922|338/973||,C|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|20/36|c.1918T>G|p.Ser640Ala|2391/4660|1918/3708|640/1235||,C|non_coding_transcript_exon_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|19/35|n.2321T>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4357;p3_1000G_AF=0.870008;p3_1000G_AFR_AF=0.9947;p3_1000G_AMR_AF=0.9164;p3_1000G_AN=5008;p3_1000G_DP=15900;p3_1000G_EAS_AF=0.754;p3_1000G_EUR_AF=0.8231;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41841716;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8364;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3583,111;ESP6500_AA_GTC=1738,107,2;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=5.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=127;ESP6500_EA_AC=6845,1351;ESP6500_EA_GTC=2867,1111,120;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017886.2:missense;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41800224;ESP6500_GS=99;ESP6500_GTC=4605,1218,122;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.1918T>G;ESP6500_HGVS_PROTEIN_VAR=NM_017886.2:p.(S640A);ESP6500_MAF=16.4837,3.0049,12.296;ESP6500_PH=benign:0.0;ESP6500_TAC=10428,1462;CLINVAR_ALLELEID=389614;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41800224A>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ULK4:54986;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=4973986	GT:AD:DP:GQ:PL	0/1:26,16:42:99:342,0,544
chr3	41883809	rs1716685	T	C	93.28	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=3;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.09;SOR=2.833;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1716685;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|17/36|c.1656+65A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|16/35|c.750+65A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|16/34|n.2059+65A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|17/35|c.1656+65A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3448;p3_1000G_AF=0.688498;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=19340;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.8101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41925301;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,3:3:9:121,9,0
chr3	41883906	rs1052501;403584	C	T	476.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=19;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.09;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1052501;dbSNPBuildID=86;ANN=T|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_017886.3|protein_coding|17/37|c.1624G>A|p.Ala542Thr|2097/4631|1624/3828|542/1275||,T|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|16/36|c.718G>A|p.Ala240Thr|2021/4555|718/2922|240/973||,T|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|17/36|c.1624G>A|p.Ala542Thr|2097/4660|1624/3708|542/1235||,T|non_coding_transcript_exon_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|16/35|n.2027G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3448;p3_1000G_AF=0.688498;p3_1000G_AFR_AF=0.3041;p3_1000G_AMR_AF=0.8184;p3_1000G_AN=5008;p3_1000G_DP=19567;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.8101;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41925398;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1436,2382;ESP6500_AA_GTC=275,886,748;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...22120009;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=74;ESP6500_EA_AC=6779,1429;ESP6500_EA_GTC=2803,1173,128;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017886.2:missense;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41883906;ESP6500_GS=58;ESP6500_GTC=3078,2059,876;ESP6500_GTS=TT,TC,CC;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...22120009;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.1624G>A;ESP6500_HGVS_PROTEIN_VAR=NM_017886.2:p.(A542T);ESP6500_MAF=17.4098,37.6113,31.6897;ESP6500_PH=benign:0.0;ESP6500_TAC=8215,3811;CLINVAR_ALLELEID=389585;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41883906C>T;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ULK4:54986;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1052501	GT:AD:DP:GQ:PL	1/1:0,19:19:57:505,57,0
chr3	41883931	rs1716687;403585	T	C	489.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=18;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.21;SOR=0.914;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1716687;dbSNPBuildID=89;ANN=C|synonymous_variant|LOW|ULK4|ULK4|transcript|NM_017886.3|protein_coding|17/37|c.1599A>G|p.Val533Val|2072/4631|1599/3828|533/1275||,C|synonymous_variant|LOW|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|16/36|c.693A>G|p.Val231Val|1996/4555|693/2922|231/973||,C|synonymous_variant|LOW|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|17/36|c.1599A>G|p.Val533Val|2072/4660|1599/3708|533/1235||,C|non_coding_transcript_exon_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|16/35|n.2002A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4604;p3_1000G_AF=0.919329;p3_1000G_AFR_AF=0.7065;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=19538;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41925423;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2919,877;ESP6500_AA_GTC=1129,661,108;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=3.9;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=72;ESP6500_EA_AC=8180,38;ESP6500_EA_GTC=4071,38,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:coding-synonymous;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41883931;ESP6500_GTC=5200,699,108;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.1599A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017886.2:p.(V533);ESP6500_MAF=0.4624,23.1033,7.6161;ESP6500_TAC=11099,915;CLINVAR_ALLELEID=389558;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41883931T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ULK4:54986;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1716687	GT:AD:DP:GQ:PL	1/1:0,18:18:54:518,54,0
chr3	41897008	rs1717005;403587	G	C	1026.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.7;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1717005;dbSNPBuildID=89;ANN=C|splice_region_variant&intron_variant|LOW|ULK4|ULK4|transcript|NM_017886.3|protein_coding|14/36|c.1349-5C>G||||||,C|splice_region_variant&intron_variant|LOW|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|13/35|c.443-5C>G||||||,C|splice_region_variant&intron_variant|LOW|ULK4|ULK4|transcript|NR_136342.1|pseudogene|13/34|n.1752-5C>G||||||,C|splice_region_variant&intron_variant|LOW|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|14/35|c.1349-5C>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4602;p3_1000G_AF=0.91893;p3_1000G_AFR_AF=0.7057;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=19834;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.995;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41938500;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2833,853;ESP6500_AA_GTC=1097,639,107;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=-1.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=44;ESP6500_EA_AC=8138,48;ESP6500_EA_GTC=4045,48,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:intron;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41897008;ESP6500_GTC=5142,687,107;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.1349-5C>G;ESP6500_MAF=0.5864,23.1416,7.5893;ESP6500_TAC=10971,901;CLINVAR_ALLELEID=389595;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41897008G>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ULK4:54986;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1717005	GT:AD:DP:GQ:PL	1/1:0,28:28:84:1055,84,0
chr3	41898501	rs1625226;403588	T	A	376.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=15;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.12;SOR=1.112;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1625226;dbSNPBuildID=89;ANN=A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|13/36|c.1288-9A>T||||||,A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|12/35|c.382-9A>T||||||,A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|12/34|n.1691-9A>T||||||,A|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|13/35|c.1288-9A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=3496;p3_1000G_AF=0.698083;p3_1000G_AFR_AF=0.5552;p3_1000G_AMR_AF=0.7781;p3_1000G_AN=5008;p3_1000G_DP=14441;p3_1000G_EAS_AF=0.7698;p3_1000G_EUR_AF=0.8012;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41939993;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6544;p3_1000G_VT=SNP;CLINVAR_ALLELEID=389560;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41898501T>A;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ULK4:54986;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1625226	GT:AD:DP:GQ:PL	1/1:0,15:15:45:405,45,0
chr3	41900707	rs1717007	T	C	873.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=27;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=59.79;QD=32.36;SOR=2.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1717007;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|13/36|c.1287+18A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|12/35|c.381+18A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|12/34|n.1690+18A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|13/35|c.1287+18A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3415;p3_1000G_AF=0.681909;p3_1000G_AFR_AF=0.2814;p3_1000G_AMR_AF=0.8141;p3_1000G_AN=5008;p3_1000G_DP=21072;p3_1000G_EAS_AF=0.8532;p3_1000G_EUR_AF=0.8101;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41942199;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8211;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1323,2409;ESP6500_AA_GTC=249,825,792;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=-3.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=133;ESP6500_EA_AC=6777,1433;ESP6500_EA_GTC=2799,1179,127;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:intron;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41900707;ESP6500_GTC=3048,2004,919;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.1287+18A>G;ESP6500_MAF=17.4543,35.4502,32.1722;ESP6500_TAC=8100,3842	GT:AD:DP:GQ:PL	1/1:0,27:27:81:902,81,0
chr3	41911289	rs1716991	C	T	1224.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=42;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.16;SOR=1.402;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1716991;dbSNPBuildID=89;ANN=T|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|11/36|c.1085+28G>A||||||,T|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|10/35|c.179+28G>A||||||,T|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|10/34|n.1488+252G>A||||||,T|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|11/35|c.1085+28G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=4710;p3_1000G_AF=0.940495;p3_1000G_AFR_AF=0.7844;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=18502;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41952781;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=3027,619;ESP6500_AA_GTC=1263,501,59;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=-7.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=65;ESP6500_EA_AC=8138,22;ESP6500_EA_GTC=4058,22,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:intron;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41911289;ESP6500_GTC=5321,523,59;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.1085+28G>A;ESP6500_MAF=0.2696,16.9775,5.4294;ESP6500_TAC=11165,641	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1253,126,0
chr3	41915974	rs1716698;403589	T	G	179.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=25.69;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1716698;dbSNPBuildID=89;ANN=G|splice_region_variant&intron_variant|LOW|ULK4|ULK4|transcript|NM_017886.3|protein_coding|8/36|c.803+3A>C||||||,G|splice_region_variant&intron_variant|LOW|ULK4|ULK4|transcript|NR_136342.1|pseudogene|8/34|n.1276+3A>C||||||,G|splice_region_variant&intron_variant|LOW|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|8/35|c.803+3A>C||||||,G|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|7/35|c.-104+2483A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3412;p3_1000G_AF=0.68131;p3_1000G_AFR_AF=0.2806;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=14849;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.8091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41957466;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1218,2374;ESP6500_AA_GTC=214,790,792;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=1.5;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=55;ESP6500_EA_AC=6701,1429;ESP6500_EA_GTC=2768,1165,132;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:intron;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41915974;ESP6500_GTC=2982,1955,924;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.803+3A>C;ESP6500_MAF=17.5769,33.9087,32.4433;ESP6500_TAC=7919,3803;CLINVAR_ALLELEID=389621;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41915974T>G;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ULK4:54986;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1716698	GT:AD:DP:GQ:PL	1/1:0,7:7:21:208,21,0
chr3	41918514	rs1716975;403590	T	C	417.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.14;SOR=2.147;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1716975;dbSNPBuildID=89;ANN=C|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_017886.3|protein_coding|7/37|c.670A>G|p.Ile224Val|1143/4631|670/3828|224/1275||,C|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|7/36|c.670A>G|p.Ile224Val|1143/4660|670/3708|224/1235||,C|5_prime_UTR_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|7/36|c.-161A>G|||||6865|,C|non_coding_transcript_exon_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|7/35|n.1143A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3405;p3_1000G_AF=0.679912;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.7997;p3_1000G_AN=5008;p3_1000G_DP=17328;p3_1000G_EAS_AF=0.8522;p3_1000G_EUR_AF=0.8042;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41960006;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1249,2381;ESP6500_AA_GTC=229,791,795;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=-5.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=65;ESP6500_EA_AC=6702,1452;ESP6500_EA_GTC=2756,1190,131;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017886.2:missense;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41918514;ESP6500_GS=29;ESP6500_GTC=2985,1981,926;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.670A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017886.2:p.(I224V);ESP6500_MAF=17.8072,34.4077,32.5272;ESP6500_PH=benign:0.0;ESP6500_TAC=7951,3833;CLINVAR_ALLELEID=389563;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41918514T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ULK4:54986;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=1716975	GT:AD:DP:GQ:PL	1/1:0,13:13:39:446,39,0
chr3	41919676	rs1716979	T	C	171.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.317;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=3.09;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0;SOR=0.132;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1716979;dbSNPBuildID=89;ANN=C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|6/36|c.643+41A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|6/35|c.-188+41A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|6/34|n.1116+41A>G||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|6/35|c.643+41A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=1546;p3_1000G_AF=0.308706;p3_1000G_AFR_AF=0.0303;p3_1000G_AMR_AF=0.2565;p3_1000G_AN=5008;p3_1000G_DP=20917;p3_1000G_EAS_AF=0.5992;p3_1000G_EUR_AF=0.3708;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41961168;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3589;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=306,3344;ESP6500_AA_GTC=17,272,1536;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=-0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_89;ESP6500_DP=80;ESP6500_EA_AC=3072,5090;ESP6500_EA_GTC=582,1908,1591;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:intron;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41919676;ESP6500_GTC=599,2180,3127;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.643+41A>G;ESP6500_MAF=37.6378,8.3836,28.598;ESP6500_TAC=3378,8434	GT:AD:DP:GQ:PL	0/1:3,8:11:79:200,0,79
chr3	41935722	rs3934103	C	T	179.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.97;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3934103;dbSNPBuildID=108;ANN=T|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|4/36|c.378+79G>A||||||,T|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|4/35|c.-453+79G>A||||||,T|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|4/34|n.851+79G>A||||||,T|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|4/35|c.378+79G>A||||||;p3_1000G_AA=T|||;p3_1000G_AC=3700;p3_1000G_AF=0.738818;p3_1000G_AFR_AF=0.4841;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=16118;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.8091;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41977214;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:208,18,0
chr3	41935996	rs58069203	CCT	C	547.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.94;SOR=2.833;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs58069203;dbSNPBuildID=129;ANN=C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|3/36|c.239-58_239-57delAG||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|3/35|c.-592-58_-592-57delAG||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|3/34|n.712-58_712-57delAG||||||,C|intron_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|3/35|c.239-58_239-57delAG||||||;p3_1000G_AC=3653;p3_1000G_AF=0.729433;p3_1000G_AFR_AF=0.4546;p3_1000G_AMR_AF=0.83;p3_1000G_AN=5008;p3_1000G_DP=18540;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.8062;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41977488;p3_1000G_GRCH37_REF=CCT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8252;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,13:13:39:585,39,0
chr3	41954644	rs2272007;403591	T	C	2326.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=71;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.77;SOR=1.195;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2272007;dbSNPBuildID=100;ANN=C|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_017886.3|protein_coding|2/37|c.116A>G|p.Lys39Arg|589/4631|116/3828|39/1275||,C|missense_variant|MODERATE|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|2/36|c.116A>G|p.Lys39Arg|589/4660|116/3708|39/1235||,C|5_prime_UTR_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|2/36|c.-715A>G|||||42995|,C|non_coding_transcript_exon_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|2/35|n.589A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3416;p3_1000G_AF=0.682109;p3_1000G_AFR_AF=0.2821;p3_1000G_AMR_AF=0.8098;p3_1000G_AN=5008;p3_1000G_DP=18273;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.8091;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41996136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8272;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1352,2420;ESP6500_AA_GTC=260,832,794;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=4.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=153;ESP6500_EA_AC=6790,1440;ESP6500_EA_GTC=2805,1180,130;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_017886.2:missense;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41954644;ESP6500_GS=26;ESP6500_GTC=3065,2012,924;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.116A>G;ESP6500_HGVS_PROTEIN_VAR=NM_017886.2:p.(K39R);ESP6500_MAF=17.497,35.8431,32.1613;ESP6500_PH=benign:0.205;ESP6500_TAC=8142,3860;CLINVAR_ALLELEID=389597;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.41954644T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=ULK4:54986;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2272007	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2355,213,0
chr3	41954783	rs7651623	A	G	1523.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=41;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.96;SOR=2.726;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7651623;dbSNPBuildID=116;ANN=G|5_prime_UTR_variant|MODIFIER|ULK4|ULK4|transcript|NM_017886.3|protein_coding|2/37|c.-24T>C|||||24|,G|5_prime_UTR_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322501.1|protein_coding|2/36|c.-854T>C|||||43134|,G|5_prime_UTR_variant|MODIFIER|ULK4|ULK4|transcript|NM_001322500.1|protein_coding|2/36|c.-24T>C|||||24|,G|non_coding_transcript_exon_variant|MODIFIER|ULK4|ULK4|transcript|NR_136342.1|pseudogene|2/35|n.450T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4585;p3_1000G_AF=0.915535;p3_1000G_AFR_AF=0.6959;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=18725;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=41996275;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2844,882;ESP6500_AA_GTC=1095,654,114;ESP6500_CDS_SIZES=NM_017886.2:3828;ESP6500_CG=-1.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=65;ESP6500_EA_AC=8159,37;ESP6500_EA_GTC=4061,37,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_017886.2:utr-5;ESP6500_GL=ULK4;ESP6500_GRCh38_POSITION=3:41954783;ESP6500_GTC=5156,691,114;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_017886.2:c.-24T>C;ESP6500_MAF=0.4514,23.6715,7.7084;ESP6500_TAC=11003,919	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1552,123,0
chr3	42160569	rs4974003	G	T	322.78	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=9;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.28;SOR=3.056;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4974003;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|2/15|c.287-16245G>T||||||,T|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|2/13|c.287-16245G>T||||||,T|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265610.1|protein_coding|1/11|c.64+10970G>T||||||,T|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|1/12|c.64+10970G>T||||||,T|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|1/12|c.112+96G>T||||||;p3_1000G_AA=g|||;p3_1000G_AC=3960;p3_1000G_AF=0.790735;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.853;p3_1000G_AN=5008;p3_1000G_DP=18434;p3_1000G_EAS_AF=0.9821;p3_1000G_EUR_AF=0.7883;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42202061;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7137;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,9:9:27:351,27,0
chr3	42184659	rs4234445	T	C	946.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.56;SOR=1.143;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4234445;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|3/15|c.364-26T>C||||||,C|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|3/13|c.364-26T>C||||||,C|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265610.1|protein_coding|2/11|c.142-26T>C||||||,C|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|2/12|c.142-26T>C||||||,C|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|2/12|c.190-26T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3720;p3_1000G_AF=0.742812;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.8199;p3_1000G_AN=5008;p3_1000G_DP=20991;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.6958;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42226151;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6237;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2879,1527;ESP6500_AA_AGE=481.4+/-359.1;ESP6500_AA_GTC=941,997,265;ESP6500_CDS_SIZES=NM_014965.4:2061,NM_001265610.1:1671,NM_001265609.1:2013,NM_001265608.1:2235,NM_001042646.2:2862;ESP6500_CG=-4.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=92;ESP6500_EA_AC=5889,2711;ESP6500_EA_AGE=431.6+/-356.9;ESP6500_EA_GTC=2003,1883,414;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014965.4:intron,NM_001265610.1:intron,NM_001265609.1:intron,NM_001265608.1:intron,NM_001042646.2:intron;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42184659;ESP6500_GTC=2944,2880,679;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_014965.4:c.190-26T>C,NM_001265610.1:c.142-26T>C,NM_001265609.1:c.142-26T>C,NM_001265608.1:c.364-26T>C,NM_001042646.2:c.364-26T>C;ESP6500_MAF=31.5233,34.6573,32.585;ESP6500_TAC=8768,4238	GT:AD:DP:GQ:PL	1/1:0,30:30:90:975,90,0
chr3	42189251	rs2290135	G	A	32.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.383;ClippingRankSum=0;DP=5;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.674;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290135;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|6/15|c.690+127G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|6/13|c.690+127G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265610.1|protein_coding|5/11|c.468+127G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|5/12|c.468+127G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|5/12|c.516+127G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1184;p3_1000G_AF=0.236422;p3_1000G_AFR_AF=0.1309;p3_1000G_AMR_AF=0.1916;p3_1000G_AN=5008;p3_1000G_DP=18872;p3_1000G_EAS_AF=0.4415;p3_1000G_EUR_AF=0.2853;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42230743;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1493;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,2:4:61:61,0,73
chr3	42193248	rs2290137	G	A	178.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.427;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.881;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.023;SOR=0.197;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290137;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|8/15|c.900+43G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|8/13|c.900+43G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265610.1|protein_coding|7/11|c.678+43G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|7/12|c.678+43G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|7/12|c.726+43G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1111;p3_1000G_AF=0.221845;p3_1000G_AFR_AF=0.0825;p3_1000G_AMR_AF=0.1859;p3_1000G_AN=5008;p3_1000G_DP=20263;p3_1000G_EAS_AF=0.4405;p3_1000G_EUR_AF=0.2793;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42234740;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1513;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=465,3941;ESP6500_AA_AGE=221.0+/-238.3;ESP6500_AA_GTC=29,407,1767;ESP6500_CDS_SIZES=NM_014965.4:2061,NM_001265610.1:1671,NM_001265609.1:2013,NM_001265608.1:2235,NM_001042646.2:2862;ESP6500_CG=0.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=44;ESP6500_EA_AC=2186,6414;ESP6500_EA_AGE=373.0+/-336.8;ESP6500_EA_GTC=290,1606,2404;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014965.4:intron,NM_001265610.1:intron,NM_001265609.1:intron,NM_001265608.1:intron,NM_001042646.2:intron;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42193248;ESP6500_GTC=319,2013,4171;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_014965.4:c.726+43G>A,NM_001265610.1:c.678+43G>A,NM_001265609.1:c.678+43G>A,NM_001265608.1:c.900+43G>A,NM_001042646.2:c.900+43G>A;ESP6500_MAF=25.4186,10.5538,20.3829;ESP6500_TAC=2651,10355	GT:AD:DP:GQ:PGT:PID:PL	0/1:4,8:12:99:0|1:42193248_G_A:207,0,141
chr3	42193266	rs3816397	C	A	54.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.992;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=0;SOR=1.022;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3816397;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|8/15|c.900+61C>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|8/13|c.900+61C>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265610.1|protein_coding|7/11|c.678+61C>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|7/12|c.678+61C>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|7/12|c.726+61C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1883;p3_1000G_AF=0.375998;p3_1000G_AFR_AF=0.2761;p3_1000G_AMR_AF=0.5375;p3_1000G_AN=5008;p3_1000G_DP=19856;p3_1000G_EAS_AF=0.4931;p3_1000G_EUR_AF=0.2783;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42234758;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:6,3:9:83:1|0:42193248_G_A:83,0,277
chr3	42194923	rs9851455	A	G	1942.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=62;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.33;SOR=0.693;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9851455;dbSNPBuildID=119;ANN=G|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|10/16|c.1095A>G|p.Ser365Ser|1311/5231|1095/2862|365/953||,G|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|10/14|c.1095A>G|p.Ser365Ser|1311/4820|1095/2235|365/744||,G|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001265610.1|protein_coding|9/12|c.873A>G|p.Ser291Ser|1174/3260|873/1671|291/556||,G|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|9/13|c.873A>G|p.Ser291Ser|1174/4683|873/2013|291/670||,G|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|9/13|c.921A>G|p.Ser307Ser|1114/4623|921/2061|307/686||;p3_1000G_AA=G|||;p3_1000G_AC=3948;p3_1000G_AF=0.788339;p3_1000G_AFR_AF=0.6868;p3_1000G_AMR_AF=0.8559;p3_1000G_AN=5008;p3_1000G_DP=20688;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.7704;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42236415;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6994;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=3040,1366;ESP6500_AA_AGE=450.0+/-349.2;ESP6500_AA_GTC=1056,928,219;ESP6500_CDS_SIZES=NM_014965.4:2061,NM_001265610.1:1671,NM_001265609.1:2013,NM_001265608.1:2235,NM_001042646.2:2862;ESP6500_CG=-12.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=85;ESP6500_EA_AC=6457,2143;ESP6500_EA_AGE=364.1+/-333.4;ESP6500_EA_GTC=2418,1621,261;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014965.4:coding-synonymous,NM_001265610.1:coding-synonymous,NM_001265609.1:coding-synonymous,NM_001265608.1:coding-synonymous,NM_001042646.2:coding-synonymous;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42194923;ESP6500_GTC=3474,2549,480;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_014965.4:c.921A>G,NM_001265610.1:c.873A>G,NM_001265609.1:c.873A>G,NM_001265608.1:c.1095A>G,NM_001042646.2:c.1095A>G;ESP6500_HGVS_PROTEIN_VAR=NM_014965.4:p.(S307),NM_001265610.1:p.(S291),NM_001265609.1:p.(S291),NM_001265608.1:p.(S365),NM_001042646.2:p.(S365);ESP6500_MAF=24.9186,31.0032,26.9799;ESP6500_TAC=9497,3509	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1971,186,0
chr3	42202829	rs9311309	G	A	734.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.4;SOR=1.329;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9311309;dbSNPBuildID=119;ANN=A|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001265610.1|protein_coding|12/12|c.1599G>A|p.Ala533Ala|1900/3260|1599/1671|533/556||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|13/15|c.1744+77G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|13/13|c.1744+77G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|12/12|c.1522+77G>A||||||,A|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|12/12|c.1570+77G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3726;p3_1000G_AF=0.74401;p3_1000G_AFR_AF=0.646;p3_1000G_AMR_AF=0.8213;p3_1000G_AN=5008;p3_1000G_DP=16907;p3_1000G_EAS_AF=0.9792;p3_1000G_EUR_AF=0.6988;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42244321;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6258;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,22:22:66:763,66,0
chr3	42209771	rs2290134	C	T	644.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.28;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.513;SOR=0.737;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290134;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|14/16|c.1749C>T|p.Ser583Ser|1965/5231|1749/2862|583/953||,T|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|14/14|c.1749C>T|p.Ser583Ser|1965/4820|1749/2235|583/744||,T|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|13/13|c.1527C>T|p.Ser509Ser|1828/4683|1527/2013|509/670||,T|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|13/13|c.1575C>T|p.Ser525Ser|1768/4623|1575/2061|525/686||;p3_1000G_AA=T|||;p3_1000G_AC=2579;p3_1000G_AF=0.514976;p3_1000G_AFR_AF=0.4342;p3_1000G_AMR_AF=0.6499;p3_1000G_AN=5008;p3_1000G_DP=15727;p3_1000G_EAS_AF=0.504;p3_1000G_EUR_AF=0.499;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42251263;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5562;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1982,2424;ESP6500_AA_AGE=617.8+/-393.0;ESP6500_AA_GTC=467,1048,688;ESP6500_CDS_SIZES=NM_014965.4:2061,NM_001265609.1:2013,NM_001265608.1:2235,NM_001042646.2:2862;ESP6500_CG=-1.6;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=61;ESP6500_EA_AC=4374,4226;ESP6500_EA_AGE=570.6+/-389.4;ESP6500_EA_GTC=1125,2124,1051;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014965.4:coding-synonymous,NM_001265609.1:coding-synonymous,NM_001265608.1:coding-synonymous,NM_001042646.2:coding-synonymous;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42209771;ESP6500_GTC=1592,3172,1739;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014965.4:c.1575C>T,NM_001265609.1:c.1527C>T,NM_001265608.1:c.1749C>T,NM_001042646.2:c.1749C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014965.4:p.(S525),NM_001265609.1:p.(S509),NM_001265608.1:p.(S583),NM_001042646.2:p.(S583);ESP6500_MAF=49.1395,44.9841,48.8698;ESP6500_TAC=6356,6650	GT:AD:DP:GQ:PL	0/1:34,24:58:99:673,0,978
chr3	42209837	rs2290133	C	T	831.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.67;ClippingRankSum=0;DP=81;ExcessHet=3.0103;FS=0.861;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.325;SOR=0.547;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290133;dbSNPBuildID=100;ANN=T|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|14/16|c.1815C>T|p.Pro605Pro|2031/5231|1815/2862|605/953||,T|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|14/14|c.1815C>T|p.Pro605Pro|2031/4820|1815/2235|605/744||,T|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|13/13|c.1593C>T|p.Pro531Pro|1894/4683|1593/2013|531/670||,T|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|13/13|c.1641C>T|p.Pro547Pro|1834/4623|1641/2061|547/686||;p3_1000G_AA=C|||;p3_1000G_AC=1811;p3_1000G_AF=0.361621;p3_1000G_AFR_AF=0.2428;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=17180;p3_1000G_EAS_AF=0.4663;p3_1000G_EUR_AF=0.2793;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42251329;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3763;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1134,3272;ESP6500_AA_AGE=404.4+/-333.1;ESP6500_AA_GTC=152,830,1221;ESP6500_CDS_SIZES=NM_014965.4:2061,NM_001265609.1:2013,NM_001265608.1:2235,NM_001042646.2:2862;ESP6500_CG=-8.8;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=79;ESP6500_EA_AC=2611,5989;ESP6500_EA_AGE=423.1+/-354.3;ESP6500_EA_GTC=405,1801,2094;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_014965.4:coding-synonymous,NM_001265609.1:coding-synonymous,NM_001265608.1:coding-synonymous,NM_001042646.2:coding-synonymous;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42209837;ESP6500_GTC=557,2631,3315;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_014965.4:c.1641C>T,NM_001265609.1:c.1593C>T,NM_001265608.1:c.1815C>T,NM_001042646.2:c.1815C>T;ESP6500_HGVS_PROTEIN_VAR=NM_014965.4:p.(P547),NM_001265609.1:p.(P531),NM_001265608.1:p.(P605),NM_001042646.2:p.(P605);ESP6500_MAF=30.3605,25.7376,28.7944;ESP6500_TAC=3745,9261	GT:AD:DP:GQ:PL	0/1:49,32:81:99:860,0,1242
chr3	42210085	rs10634555;rs778048843	C	CGGA	1892.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.569;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.055;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.68;ReadPosRankSum=2.09;SOR=0.134;INS;HET;VARTYPE=INS;dbSNP138_ID=rs10530663,rs10634555;dbSNPBuildID=135,144;ANN=CGGA|disruptive_inframe_insertion|MODERATE|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|14/14|c.2093_2095dupAGG|p.Glu698dup|2312/4820|2096/2235|699/744||INFO_REALIGN_3_PRIME,CGGA|disruptive_inframe_insertion|MODERATE|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|13/13|c.1871_1873dupAGG|p.Glu624dup|2175/4683|1874/2013|625/670||INFO_REALIGN_3_PRIME,CGGA|disruptive_inframe_insertion|MODERATE|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|13/13|c.1919_1921dupAGG|p.Glu640dup|2115/4623|1922/2061|641/686||INFO_REALIGN_3_PRIME,CGGA|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|14/15|c.1963+130_1963+132dupAGG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	1/0:2,16:18:99:1930,1113,1103
chr3	42210085	rs10634555	C	CGGAGGA	1892.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.569;ClippingRankSum=0;DP=64;ExcessHet=3.0103;FS=3.055;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=30.68;ReadPosRankSum=2.09;SOR=0.134;INS;HET;VARTYPE=INS;dbSNPBuildID=135;ANN=CGGAGGA|disruptive_inframe_insertion|MODERATE|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|14/14|c.2090_2095dupAGGAGG|p.Glu697_Glu698dup|2312/4820|2096/2235|699/744||INFO_REALIGN_3_PRIME,CGGAGGA|disruptive_inframe_insertion|MODERATE|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|13/13|c.1868_1873dupAGGAGG|p.Glu623_Glu624dup|2175/4683|1874/2013|625/670||INFO_REALIGN_3_PRIME,CGGAGGA|disruptive_inframe_insertion|MODERATE|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|13/13|c.1916_1921dupAGGAGG|p.Glu639_Glu640dup|2115/4623|1922/2061|641/686||INFO_REALIGN_3_PRIME,CGGAGGA|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|14/15|c.1963+127_1963+132dupAGGAGG||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:2,29:31:99:1930,562,601
chr3	42210376	rs3836496;rs397841159	CT	C	24.75	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.431;ClippingRankSum=0;DP=3;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.967;SOR=1.179;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs3836496;dbSNPBuildID=134,138;ANN=C|3_prime_UTR_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265608.1|protein_coding|14/14|c.*122delT|||||122|INFO_REALIGN_3_PRIME,C|3_prime_UTR_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001265609.1|protein_coding|13/13|c.*122delT|||||122|INFO_REALIGN_3_PRIME,C|3_prime_UTR_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_014965.4|protein_coding|13/13|c.*122delT|||||122|INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|14/15|c.1963+394delT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TT|TTT|TT|insertion;p3_1000G_AC=2121;p3_1000G_AF=0.423522;p3_1000G_AFR_AF=0.3268;p3_1000G_AMR_AF=0.572;p3_1000G_AN=5008;p3_1000G_DP=12482;p3_1000G_EAS_AF=0.4683;p3_1000G_EUR_AF=0.3648;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42251868;p3_1000G_GRCH37_REF=CT;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4632;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,2:3:27:62,0,27
chr3	42220494	rs572027508	C	T	542.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.434;ClippingRankSum=0;DP=40;ExcessHet=3.0103;FS=1.254;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.435;SOR=1.038;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=T|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|15/15|c.2066+898C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=4;p3_1000G_AF=0.000798722;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0.0014;p3_1000G_AN=5008;p3_1000G_DP=19065;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42261986;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,23:40:99:571,0,371
chr3	42222900	rs35387790	C	T	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.363;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=-0.665;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs35387790;dbSNPBuildID=126;ANN=T|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|15/15|c.2067-42C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=284;p3_1000G_AF=0.0567093;p3_1000G_AFR_AF=0.0961;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=19165;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42264392;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0266;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=156,3802;ESP6500_AA_GTC=12,132,1835;ESP6500_CDS_SIZES=NM_001042646.2:2862;ESP6500_CG=-5.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_126;ESP6500_DP=43;ESP6500_EA_AC=3,8309;ESP6500_EA_GTC=0,3,4153;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001042646.2:intron;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42222900;ESP6500_GTC=12,135,5988;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001042646.2:c.2067-42C>T;ESP6500_MAF=0.0361,3.9414,1.2958;ESP6500_TAC=159,12111	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,14:29:99:0|1:42222900_C_T:543,0,942
chr3	42222901	rs3733053	A	G	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.62;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.75;ReadPosRankSum=-0.978;SOR=0.616;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3733053;dbSNPBuildID=107;ANN=G|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|15/15|c.2067-41A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2381;p3_1000G_AF=0.475439;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=19200;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.4513;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42264393;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2433,1545;ESP6500_AA_GTC=783,867,339;ESP6500_CDS_SIZES=NM_001042646.2:2862;ESP6500_CG=-2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=45;ESP6500_EA_AC=3409,4911;ESP6500_EA_GTC=706,1997,1457;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001042646.2:intron;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42222901;ESP6500_GTC=1489,2864,1796;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001042646.2:c.2067-41A>G;ESP6500_MAF=40.9736,38.8386,47.5037;ESP6500_TAC=5842,6456	GT:AD:DP:GQ:PGT:PID:PL	0/1:15,14:29:99:0|1:42222900_C_T:543,0,942
chr3	42222930	rs3733054	T	C	615.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.34;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=7.425;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-2.222;SOR=0.149;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3733054;dbSNPBuildID=107;ANN=C|intron_variant|MODIFIER|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|15/15|c.2067-12T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=2383;p3_1000G_AF=0.475839;p3_1000G_AFR_AF=0.7118;p3_1000G_AMR_AF=0.3285;p3_1000G_AN=5008;p3_1000G_DP=18856;p3_1000G_EAS_AF=0.4544;p3_1000G_EUR_AF=0.4523;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42264422;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2526,1510;ESP6500_AA_GTC=802,922,294;ESP6500_CDS_SIZES=NM_001042646.2:2862;ESP6500_CG=-2.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=72;ESP6500_EA_AC=3433,4915;ESP6500_EA_GTC=711,2011,1452;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001042646.2:intron;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42222930;ESP6500_GTC=1513,2933,1746;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001042646.2:c.2067-12T>C;ESP6500_MAF=41.1236,37.4133,48.1185;ESP6500_TAC=5959,6425	GT:AD:DP:GQ:PL	0/1:21,20:41:99:644,0,560
chr3	42223674	rs12487911	T	C	376.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.65;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=1.234;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=-0.647;SOR=1.085;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12487911;dbSNPBuildID=120;ANN=C|synonymous_variant|LOW|TRAK1|TRAK1|transcript|NM_001042646.2|protein_coding|16/16|c.2799T>C|p.Pro933Pro|3015/5231|2799/2862|933/953||;p3_1000G_AA=t|||;p3_1000G_AC=1030;p3_1000G_AF=0.205671;p3_1000G_AFR_AF=0.5144;p3_1000G_AMR_AF=0.1138;p3_1000G_AN=5008;p3_1000G_DP=20515;p3_1000G_EAS_AF=0.0962;p3_1000G_EUR_AF=0.0825;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42265166;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.093;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1637,2381;ESP6500_AA_GTC=340,957,712;ESP6500_CDS_SIZES=NM_001042646.2:2862;ESP6500_CG=-10.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_120;ESP6500_DP=62;ESP6500_EA_AC=619,7735;ESP6500_EA_GTC=20,579,3578;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001042646.2:coding-synonymous;ESP6500_GL=TRAK1;ESP6500_GRCh38_POSITION=3:42223674;ESP6500_GTC=360,1536,4290;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001042646.2:c.2799T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001042646.2:p.(P933);ESP6500_MAF=7.4096,40.7417,18.2347;ESP6500_TAC=2256,10116	GT:AD:DP:GQ:PGT:PID:PL	0/1:32,16:48:99:1|0:42223666_A_G:405,0,856
chr3	42258245	rs3774396	G	A	514.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.292;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.767;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3774396;dbSNPBuildID=107;ANN=A|intron_variant|MODIFIER|CCK|CCK|transcript|NM_000729.5|protein_coding|4/4|c.215-14C>T||||||,A|intron_variant|MODIFIER|CCK|CCK|transcript|NM_001174138.2|protein_coding|2/2|c.215-14C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=671;p3_1000G_AF=0.133986;p3_1000G_AFR_AF=0.3396;p3_1000G_AMR_AF=0.0821;p3_1000G_AN=5008;p3_1000G_DP=21588;p3_1000G_EAS_AF=0.1319;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42299737;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0307;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1387,3019;ESP6500_AA_AGE=457.1+/-351.5;ESP6500_AA_GTC=218,951,1034;ESP6500_CDS_SIZES=NM_001174138.1:348,NM_000729.4:348;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=76;ESP6500_EA_AC=26,8574;ESP6500_EA_AGE=17.3+/-56.4;ESP6500_EA_GTC=0,26,4274;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001174138.1:intron,NM_000729.4:intron;ESP6500_GL=CCK;ESP6500_GRCh38_POSITION=3:42258245;ESP6500_GTC=218,977,5308;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001174138.1:c.215-14C>T,NM_000729.4:c.215-14C>T;ESP6500_MAF=0.3023,31.4798,10.8642;ESP6500_TAC=1413,11593	GT:AD:DP:GQ:PL	0/1:16,17:33:99:543,0,487
chr3	42263639	rs754635	C	G	147.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=13;ExcessHet=3.0103;FS=7.16;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.869;SOR=0.042;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs754635;dbSNPBuildID=86;ANN=G|splice_region_variant&intron_variant|LOW|CCK|CCK|transcript|NM_000729.5|protein_coding|3/4|c.-2-7G>C||||||,G|splice_region_variant&intron_variant|LOW|CCK|CCK|transcript|NM_001174138.2|protein_coding|1/2|c.-2-7G>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3834;p3_1000G_AF=0.765575;p3_1000G_AFR_AF=0.6324;p3_1000G_AMR_AF=0.7767;p3_1000G_AN=5008;p3_1000G_DP=14779;p3_1000G_EAS_AF=0.7173;p3_1000G_EUR_AF=0.8956;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42305131;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8538;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2941,1315;ESP6500_AA_GTC=1009,923,196;ESP6500_CDS_SIZES=NM_001174138.1:348,NM_000729.4:348;ESP6500_CG=-4.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=7;ESP6500_EA_AC=7380,856;ESP6500_EA_GTC=3324,732,62;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001174138.1:intron,NM_000729.4:intron;ESP6500_GL=CCK;ESP6500_GRCh38_POSITION=3:42263639;ESP6500_GTC=4333,1655,258;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_001174138.1:c.-9G>C,NM_000729.4:c.-9G>C;ESP6500_MAF=10.3934,30.8976,17.3791;ESP6500_TAC=10321,2171	GT:AD:DP:GQ:PL	0/1:7,6:13:99:176,0,189
chr3	42397262	rs13054	T	C	449.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.51;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=6.956;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.535;SOR=0.916;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13054;dbSNPBuildID=52;ANN=C|3_prime_UTR_variant|MODIFIER|LYZL4|LYZL4|transcript|NM_001304386.1|protein_coding|5/5|c.*3A>G|||||3|,C|3_prime_UTR_variant|MODIFIER|LYZL4|LYZL4|transcript|NM_144634.3|protein_coding|5/5|c.*3A>G|||||3|;p3_1000G_AA=C|||;p3_1000G_AC=2959;p3_1000G_AF=0.590855;p3_1000G_AFR_AF=0.8669;p3_1000G_AMR_AF=0.5259;p3_1000G_AN=5008;p3_1000G_DP=17225;p3_1000G_EAS_AF=0.4385;p3_1000G_EUR_AF=0.5845;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42438754;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4274;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3633,761;ESP6500_AA_GTC=1512,609,76;ESP6500_CDS_SIZES=NM_144634.2:441;ESP6500_CG=-5.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=29;ESP6500_EA_AC=5132,3424;ESP6500_EA_GTC=1558,2016,704;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144634.2:utr-3;ESP6500_GL=LYZL4;ESP6500_GRCh38_POSITION=3:42397262;ESP6500_GTC=3070,2625,780;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144634.2:c.*3A>G;ESP6500_MAF=40.0187,17.3191,32.3166;ESP6500_TAC=8765,4185	GT:AD:DP:GQ:PL	0/1:7,18:25:99:478,0,131
chr3	42406804	rs33518	T	C	591.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.21;ClippingRankSum=0;DP=58;ExcessHet=3.0103;FS=2.682;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.452;SOR=0.346;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs33518;dbSNPBuildID=76;ANN=C|intron_variant|MODIFIER|LYZL4|LYZL4|transcript|NM_001304386.1|protein_coding|3/4|c.292+42A>G||||||,C|intron_variant|MODIFIER|LYZL4|LYZL4|transcript|NM_144634.3|protein_coding|3/4|c.292+42A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2994;p3_1000G_AF=0.597843;p3_1000G_AFR_AF=0.9017;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=19761;p3_1000G_EAS_AF=0.4375;p3_1000G_EUR_AF=0.5815;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42448296;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4223;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3735,671;ESP6500_AA_AGE=281.6+/-276.1;ESP6500_AA_GTC=1593,549,61;ESP6500_CDS_SIZES=NM_144634.2:441;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_76;ESP6500_DP=37;ESP6500_EA_AC=5104,3496;ESP6500_EA_AGE=506.8+/-376.7;ESP6500_EA_GTC=1516,2072,712;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144634.2:intron;ESP6500_GL=LYZL4;ESP6500_GRCh38_POSITION=3:42406804;ESP6500_GTC=3109,2621,773;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_144634.2:c.292+42A>G;ESP6500_MAF=40.6512,15.2292,32.0391;ESP6500_TAC=8839,4167	GT:AD:DP:GQ:PL	0/1:34,24:58:99:620,0,938
chr3	42406979	rs2286720	G	A	1062.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.465;ClippingRankSum=0;DP=105;ExcessHet=3.0103;FS=1.588;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.054;SOR=0.739;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2286720;dbSNPBuildID=100;ANN=A|synonymous_variant|LOW|LYZL4|LYZL4|transcript|NM_001304386.1|protein_coding|3/5|c.159C>T|p.Phe53Phe|418/887|159/441|53/146||,A|synonymous_variant|LOW|LYZL4|LYZL4|transcript|NM_144634.3|protein_coding|3/5|c.159C>T|p.Phe53Phe|437/906|159/441|53/146||;p3_1000G_AA=G|||;p3_1000G_AC=560;p3_1000G_AF=0.111821;p3_1000G_AFR_AF=0.0053;p3_1000G_AMR_AF=0.049;p3_1000G_AN=5008;p3_1000G_DP=20438;p3_1000G_EAS_AF=0.2758;p3_1000G_EUR_AF=0.1113;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42448471;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1319;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=90,4316;ESP6500_AA_AGE=75.2+/-113.4;ESP6500_AA_GTC=1,88,2114;ESP6500_CA=http://www.ncbi.nlm.nih.gov/pubmed?term...21107309;ESP6500_CDS_SIZES=NM_144634.2:441;ESP6500_CG=-3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=83;ESP6500_EA_AC=784,7816;ESP6500_EA_AGE=184.7+/-232.6;ESP6500_EA_GTC=40,704,3556;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144634.2:coding-synonymous;ESP6500_GL=LYZL4;ESP6500_GRCh38_POSITION=3:42406979;ESP6500_GTC=41,792,5670;ESP6500_GTS=AA,AG,GG;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...21107309;ESP6500_HGVS_CDNA_VAR=NM_144634.2:c.159C>T;ESP6500_HGVS_PROTEIN_VAR=NM_144634.2:p.(F53);ESP6500_MAF=9.1163,2.0427,6.72;ESP6500_TAC=874,12132	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1091,0,1566
chr3	42514032	rs2278215	G	A	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.78;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.873;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2278215;dbSNPBuildID=100;ANN=A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_004624.3|protein_coding|2/12|c.184+178G>A||||||,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251882.1|protein_coding|3/13|c.61+178G>A||||||,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251883.1|protein_coding|1/9|c.-189-5191G>A||||||,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251884.1|protein_coding|1/11|c.44-5191G>A||||||,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251885.1|protein_coding|2/12|c.103+178G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=878;p3_1000G_AF=0.175319;p3_1000G_AFR_AF=0.0182;p3_1000G_AMR_AF=0.1988;p3_1000G_AN=5008;p3_1000G_DP=17561;p3_1000G_EAS_AF=0.1944;p3_1000G_EUR_AF=0.2177;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42555524;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3078;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,11:17:99:286,0,164
chr3	42527437	rs2229722	T	C	600.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.6;ClippingRankSum=0;DP=80;ExcessHet=3.0103;FS=3.113;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=1.47;SOR=0.558;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2229722;dbSNPBuildID=102;ANN=C|synonymous_variant|LOW|VIPR1|VIPR1|transcript|NM_004624.3|protein_coding|5/13|c.444T>C|p.Ile148Ile|568/2790|444/1374|148/457||,C|synonymous_variant|LOW|VIPR1|VIPR1|transcript|NM_001251882.1|protein_coding|6/14|c.321T>C|p.Ile107Ile|945/3167|321/1251|107/416||,C|synonymous_variant|LOW|VIPR1|VIPR1|transcript|NM_001251884.1|protein_coding|4/12|c.300T>C|p.Ile100Ile|459/2681|300/1230|100/409||,C|synonymous_variant|LOW|VIPR1|VIPR1|transcript|NM_001251885.1|protein_coding|5/13|c.363T>C|p.Ile121Ile|522/2744|363/1293|121/430||,C|downstream_gene_variant|MODIFIER|VIPR1-AS1|VIPR1-AS1|transcript|NR_046654.1|pseudogene||n.*3459A>G|||||3459|,C|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251883.1|protein_coding|3/9|c.26+1444T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=1859;p3_1000G_AF=0.371206;p3_1000G_AFR_AF=0.4667;p3_1000G_AMR_AF=0.2839;p3_1000G_AN=5008;p3_1000G_DP=16535;p3_1000G_EAS_AF=0.5784;p3_1000G_EUR_AF=0.1511;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42568929;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.317;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1915,2491;ESP6500_AA_AGE=627.0+/-394.8;ESP6500_AA_GTC=389,1137,677;ESP6500_CDS_SIZES=NM_004624.3:1374,NM_001251885.1:1293,NM_001251884.1:1230,NM_001251883.1:744,NM_001251882.1:1251;ESP6500_CG=0.6;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=113;ESP6500_EA_AC=1389,7211;ESP6500_EA_AGE=754.1+/-407.5;ESP6500_EA_GTC=107,1175,3018;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_004624.3:coding-synonymous,NM_001251885.1:coding-synonymous,NM_001251884.1:coding-synonymous,NM_001251883.1:intron,NM_001251882.1:coding-synonymous;ESP6500_GL=VIPR1;ESP6500_GRCh38_POSITION=3:42527437;ESP6500_GTC=496,2312,3695;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_004624.3:c.444T>C,NM_001251885.1:c.363T>C,NM_001251884.1:c.300T>C,NM_001251883.1:c.26+1444T>C,NM_001251882.1:c.321T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004624.3:p.(I148),NM_001251885.1:p.(I121),NM_001251884.1:p.(I100),.,NM_001251882.1:p.(I107);ESP6500_MAF=16.1512,43.4635,25.4037;ESP6500_TAC=3304,9702	GT:AD:DP:GQ:PL	0/1:53,27:80:99:629,0,1314
chr3	42527577	rs2276831	C	A	546.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.24;ClippingRankSum=0;DP=36;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-1.826;SOR=0.446;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2276831;dbSNPBuildID=100;ANN=A|sequence_feature|LOW|VIPR1|VIPR1|topological-domain:Cytoplasmic|NM_004624.3|protein_coding|5/12|c.503+81C>A||||||,A|sequence_feature|LOW|VIPR1|VIPR1|topological-domain:Cytoplasmic|NM_001251882.1|protein_coding|6/13|c.380+81C>A||||||,A|sequence_feature|LOW|VIPR1|VIPR1|topological-domain:Cytoplasmic|NM_001251884.1|protein_coding|4/11|c.359+81C>A||||||,A|downstream_gene_variant|MODIFIER|VIPR1-AS1|VIPR1-AS1|transcript|NR_046654.1|pseudogene||n.*3319G>T|||||3319|,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_004624.3|protein_coding|5/12|c.503+81C>A||||||,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251882.1|protein_coding|6/13|c.380+81C>A||||||,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251883.1|protein_coding|3/9|c.26+1584C>A||||||,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251884.1|protein_coding|4/11|c.359+81C>A||||||,A|intron_variant|MODIFIER|VIPR1|VIPR1|transcript|NM_001251885.1|protein_coding|5/12|c.422+81C>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1193;p3_1000G_AF=0.238219;p3_1000G_AFR_AF=0.1142;p3_1000G_AMR_AF=0.2493;p3_1000G_AN=5008;p3_1000G_DP=16651;p3_1000G_EAS_AF=0.1925;p3_1000G_EUR_AF=0.2982;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42569069;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3834;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:17,18:35:99:575,0,456
chr3	42618997	rs540921288;rs546889544;rs548562746;rs550779038	CTTT	C	91.8	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.36;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNPBuildID=142;ANN=C|splice_region_variant&intron_variant|LOW|NKTR|NKTR|transcript|NM_005385.3|protein_coding|3/16|c.134-7_134-5delTTT||||||INFO_REALIGN_3_PRIME,C|intron_variant|MODIFIER|LOC101928323|LOC101928323|transcript|NR_125400.1|pseudogene|2/2|n.444+4764_444+4766delAAA||||||;p3_1000G_AC=41;p3_1000G_AF=0.0081869;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=18612;p3_1000G_EAS_AF=0.0089;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42660489;p3_1000G_GRCH37_REF=CTTT;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0184;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:1,4:5:18:129,0,18
chr3	42643978	rs201852247	G	C	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.226;ClippingRankSum=0;DP=29;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-1.216;SOR=0.648;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs201852247;dbSNPBuildID=137;ANN=C|missense_variant|MODERATE|NKTR|NKTR|transcript|NM_005385.3|protein_coding|16/17|c.4276G>C|p.Gly1426Arg|4423/7302|4276/4389|1426/1462||,C|intron_variant|MODIFIER|LOC101928323|LOC101928323|transcript|NR_125400.1|pseudogene|1/2|n.395+10016C>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=5;p3_1000G_AF=0.000998403;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=16838;p3_1000G_EAS_AF=0.005;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42685470;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:16,13:29:99:298,0,396
chr3	42686652	rs6805421;226688	A	G	1802.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=53;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.01;SOR=1.077;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6805421;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|KLHL40|KLHL40|transcript|NM_152393.3|protein_coding|1/6|c.1034A>G|p.Asn345Ser|1134/2419|1034/1866|345/621||;p3_1000G_AA=A|||;p3_1000G_AC=3118;p3_1000G_AF=0.622604;p3_1000G_AFR_AF=0.3638;p3_1000G_AMR_AF=0.5922;p3_1000G_AN=5008;p3_1000G_DP=20403;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.672;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42728144;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7249;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1828,2578;ESP6500_AA_AGE=535.8+/-374.3;ESP6500_AA_GTC=385,1058,760;ESP6500_CDS_SIZES=NM_152393.2:1866;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=79;ESP6500_EA_AC=5454,3146;ESP6500_EA_AGE=656.0+/-401.3;ESP6500_EA_GTC=1730,1994,576;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152393.2:missense;ESP6500_GL=KBTBD5;ESP6500_GRCh38_POSITION=3:42686652;ESP6500_GS=46;ESP6500_GTC=2115,3052,1336;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_152393.2:c.1034A>G;ESP6500_HGVS_PROTEIN_VAR=NM_152393.2:p.(N345S);ESP6500_MAF=36.5814,41.4889,44.0105;ESP6500_PH=benign:0.002;ESP6500_TAC=7282,5724;CLINVAR_ALLELEID=229062;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.42686652A>G;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q2TBA0#VAR_030214;CLINVAR_GENEINFO=KLHL40:131377;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=6805421	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1831,159,0
chr3	42691976	rs123509;226689	T	C	1355.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=45;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.13;SOR=1.559;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs123509;dbSNPBuildID=79;ANN=C|missense_variant|MODERATE|KLHL40|KLHL40|transcript|NM_152393.3|protein_coding|6/6|c.1849T>C|p.Cys617Arg|1949/2419|1849/1866|617/621||,C|downstream_gene_variant|MODIFIER|HHATL|HHATL|transcript|NM_020707.3|protein_coding||c.*775A>G|||||687|,C|downstream_gene_variant|MODIFIER|HHATL|HHATL|transcript|NR_027753.1|pseudogene||n.*687A>G|||||687|;p3_1000G_AA=C|||;p3_1000G_AC=4506;p3_1000G_AF=0.89976;p3_1000G_AFR_AF=0.9448;p3_1000G_AMR_AF=0.8689;p3_1000G_AN=5008;p3_1000G_DP=19169;p3_1000G_EAS_AF=0.998;p3_1000G_EUR_AF=0.7714;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42733468;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8916;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3985,421;ESP6500_AA_AGE=206.2+/-227.9;ESP6500_AA_GTC=1802,381,20;ESP6500_CDS_SIZES=NM_152393.2:1866;ESP6500_CG=3.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=100;ESP6500_EA_AC=6487,2113;ESP6500_EA_AGE=364.4+/-333.5;ESP6500_EA_GTC=2436,1615,249;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_152393.2:missense;ESP6500_GL=KBTBD5;ESP6500_GRCh38_POSITION=3:42691976;ESP6500_GS=180;ESP6500_GTC=4238,1996,269;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_152393.2:c.1849T>C;ESP6500_HGVS_PROTEIN_VAR=NM_152393.2:p.(C617R);ESP6500_MAF=24.5698,9.5552,19.4833;ESP6500_PH=benign:0.0;ESP6500_TAC=10472,2534;CLINVAR_ALLELEID=229063;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDISDBINCL=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNDNINCL=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.42691976T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNSIGINCL=228777:Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=UniProtKB_(protein):Q2TBA0#VAR_030215;CLINVAR_GENEINFO=KLHL40:131377;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=123509	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1384,135,0
chr3	42693658	rs11079	T	C	343.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.19;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.167;SOR=0.511;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11079;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|HHATL|HHATL|transcript|NM_020707.3|protein_coding|10/12|c.1207A>G|p.Met403Val|1469/1865|1207/1515|403/504||,C|downstream_gene_variant|MODIFIER|KLHL40|KLHL40|transcript|NM_152393.3|protein_coding||c.*1665T>C|||||1212|,C|non_coding_transcript_exon_variant|MODIFIER|HHATL|HHATL|transcript|NR_027753.1|pseudogene|11/13|n.1354A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=3251;p3_1000G_AF=0.649161;p3_1000G_AFR_AF=0.6785;p3_1000G_AMR_AF=0.6787;p3_1000G_AN=5008;p3_1000G_DP=17935;p3_1000G_EAS_AF=0.7113;p3_1000G_EUR_AF=0.5924;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42735150;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5828;p3_1000G_VT=SNP;ESP6500_AA_AC=2878,1528;ESP6500_AA_AGE=483.9+/-359.9;ESP6500_AA_GTC=934,1010,259;ESP6500_CDS_SIZES=NM_020707.3:1515;ESP6500_CG=4.3;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=47;ESP6500_EA_AC=5072,3528;ESP6500_EA_AGE=513.4+/-378.2;ESP6500_EA_GTC=1462,2148,690;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020707.3:missense;ESP6500_GL=HHATL;ESP6500_GRCh38_POSITION=3:42693658;ESP6500_GS=21;ESP6500_GTC=2396,3158,949;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_020707.3:c.1207A>G;ESP6500_HGVS_PROTEIN_VAR=NM_020707.3:p.(M403V);ESP6500_MAF=41.0233,34.68,38.8744;ESP6500_PH=benign:0.0;ESP6500_TAC=7950,5056	GT:AD:DP:GQ:PL	0/1:20,15:35:99:372,0,495
chr3	42693782	rs339697	A	G	501.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.514;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=1.134;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.403;SOR=0.49;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs339697;dbSNPBuildID=79;ANN=G|synonymous_variant|LOW|HHATL|HHATL|transcript|NM_020707.3|protein_coding|10/12|c.1083T>C|p.Ala361Ala|1345/1865|1083/1515|361/504||,G|downstream_gene_variant|MODIFIER|KLHL40|KLHL40|transcript|NM_152393.3|protein_coding||c.*1789A>G|||||1336|,G|non_coding_transcript_exon_variant|MODIFIER|HHATL|HHATL|transcript|NR_027753.1|pseudogene|11/13|n.1230T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=3508;p3_1000G_AF=0.700479;p3_1000G_AFR_AF=0.8525;p3_1000G_AMR_AF=0.6888;p3_1000G_AN=5008;p3_1000G_DP=19113;p3_1000G_EAS_AF=0.7133;p3_1000G_EUR_AF=0.5954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42735274;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5982;p3_1000G_VT=SNP;ESP6500_AA_AC=3510,896;ESP6500_AA_AGE=347.5+/-309.5;ESP6500_AA_GTC=1400,710,93;ESP6500_CDS_SIZES=NM_020707.3:1515;ESP6500_CG=-8.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=63;ESP6500_EA_AC=5095,3505;ESP6500_EA_AGE=512.1+/-377.9;ESP6500_EA_GTC=1474,2147,679;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020707.3:coding-synonymous;ESP6500_GL=HHATL;ESP6500_GRCh38_POSITION=3:42693782;ESP6500_GTC=2874,2857,772;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020707.3:c.1083T>C;ESP6500_HGVS_PROTEIN_VAR=NM_020707.3:p.(A361);ESP6500_MAF=40.7558,20.3359,33.8382;ESP6500_TAC=8605,4401	GT:AD:DP:GQ:PL	0/1:24,23:47:99:530,0,542
chr3	42696805	rs2290973	G	A	380.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-3.601;ClippingRankSum=0;DP=25;ExcessHet=3.0103;FS=2.793;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.308;SOR=0.141;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2290973;dbSNPBuildID=100;ANN=A|downstream_gene_variant|MODIFIER|KLHL40|KLHL40|transcript|NM_152393.3|protein_coding||c.*4812G>A|||||4359|,A|intron_variant|MODIFIER|HHATL|HHATL|transcript|NM_020707.3|protein_coding|9/11|c.1046+37C>T||||||,A|intron_variant|MODIFIER|HHATL|HHATL|transcript|NR_027753.1|pseudogene|10/12|n.1193+37C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2391;p3_1000G_AF=0.477436;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.5965;p3_1000G_AN=5008;p3_1000G_DP=18323;p3_1000G_EAS_AF=0.6627;p3_1000G_EUR_AF=0.5378;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42738297;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5112;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1208,3198;ESP6500_AA_AGE=410.9+/-335.5;ESP6500_AA_GTC=168,872,1163;ESP6500_CDS_SIZES=NM_020707.3:1515;ESP6500_CG=0.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=36;ESP6500_EA_AC=4606,3994;ESP6500_EA_AGE=582.5+/-391.4;ESP6500_EA_GTC=1204,2198,898;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020707.3:intron;ESP6500_GL=HHATL;ESP6500_GRCh38_POSITION=3:42696805;ESP6500_GTC=1372,3070,2061;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_020707.3:c.1046+37C>T;ESP6500_MAF=46.4419,27.4172,44.7024;ESP6500_TAC=5814,7192	GT:AD:DP:GQ:PL	0/1:8,16:24:99:409,0,268
chr3	42697755	rs339690	T	C	200.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.82;ClippingRankSum=0;DP=11;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=0.21;SOR=0.307;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs339690;dbSNPBuildID=79;ANN=C|intron_variant|MODIFIER|HHATL|HHATL|transcript|NM_020707.3|protein_coding|6/11|c.694-76A>G||||||,C|intron_variant|MODIFIER|HHATL|HHATL|transcript|NR_027753.1|pseudogene|7/12|n.841-76A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=934;p3_1000G_AF=0.186502;p3_1000G_AFR_AF=0.4523;p3_1000G_AMR_AF=0.0706;p3_1000G_AN=5008;p3_1000G_DP=17989;p3_1000G_EAS_AF=0.1954;p3_1000G_EUR_AF=0.0089;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42739247;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0828;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,6:10:99:229,0,115
chr3	42708954	rs2240860	G	A	465.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.493;ClippingRankSum=0;DP=33;ExcessHet=3.0103;FS=1.741;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.08;SOR=0.287;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2240860;dbSNPBuildID=98;ANN=A|3_prime_UTR_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|16/16|c.*26C>T|||||26|;p3_1000G_AA=G|||;p3_1000G_AC=1229;p3_1000G_AF=0.245407;p3_1000G_AFR_AF=0.2247;p3_1000G_AMR_AF=0.2089;p3_1000G_AN=5008;p3_1000G_DP=18546;p3_1000G_EAS_AF=0.2956;p3_1000G_EUR_AF=0.1899;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42750446;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3047;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1063,3343;ESP6500_AA_AGE=387.2+/-326.4;ESP6500_AA_GTC=127,809,1267;ESP6500_CDS_SIZES=NM_144719.3:2148;ESP6500_CG=-1.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=73;ESP6500_EA_AC=1585,7015;ESP6500_EA_AGE=294.3+/-301.8;ESP6500_EA_GTC=127,1331,2842;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144719.3:utr-3;ESP6500_GL=CCDC13;ESP6500_GRCh38_POSITION=3:42708954;ESP6500_GTC=254,2140,4109;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144719.3:c.*26C>T;ESP6500_MAF=18.4302,24.1262,20.3598;ESP6500_TAC=2648,10358	GT:AD:DP:GQ:PL	0/1:14,19:33:99:494,0,363
chr3	42709695	rs57780787	C	T	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.696;ClippingRankSum=0;DP=45;ExcessHet=3.0103;FS=2.781;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-2.07;SOR=1.312;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs57780787;dbSNPBuildID=129;ANN=T|synonymous_variant|LOW|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|15/16|c.1977G>A|p.Glu659Glu|2061/2830|1977/2148|659/715||;p3_1000G_AA=C|||;p3_1000G_AC=81;p3_1000G_AF=0.0161741;p3_1000G_AFR_AF=0.0008;p3_1000G_AMR_AF=0.0159;p3_1000G_AN=5008;p3_1000G_DP=19659;p3_1000G_EAS_AF=0.0645;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42751187;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=7,4399;ESP6500_AA_AGE=12.9+/-30.5;ESP6500_AA_GTC=0,7,2196;ESP6500_CDS_SIZES=NM_144719.3:2148;ESP6500_CG=2.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=162;ESP6500_EA_AC=26,8574;ESP6500_EA_AGE=17.3+/-56.4;ESP6500_EA_GTC=0,26,4274;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144719.3:coding-synonymous;ESP6500_GL=CCDC13;ESP6500_GRCh38_POSITION=3:42709695;ESP6500_GTC=0,33,6470;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_144719.3:c.1977G>A;ESP6500_HGVS_PROTEIN_VAR=NM_144719.3:p.(E659);ESP6500_MAF=0.3023,0.1589,0.2537;ESP6500_TAC=33,12973	GT:AD:DP:GQ:PL	0/1:27,18:45:99:460,0,695
chr3	42713241	rs369481975	CA	C	722.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.954;ClippingRankSum=0;DP=43;ExcessHet=3.0103;FS=1.177;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-1.167;SOR=0.973;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs369481975;dbSNPBuildID=142;ANN=C|frameshift_variant|HIGH|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|14/16|c.1793delT|p.Leu598fs|1877/2830|1793/2148|598/715||;LOF=(CCDC13|CCDC13|1|1.00);p3_1000G_AA=A|A|-|deletion;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=20352;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42754733;p3_1000G_GRCH37_REF=CA;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	0/1:21,22:43:99:760,0,719
chr3	42713420	rs3895740	A	G	257.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.81;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.48;ReadPosRankSum=-0.191;SOR=1.445;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3895740;dbSNPBuildID=108;ANN=G|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|13/15|c.1719-104T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=2631;p3_1000G_AF=0.525359;p3_1000G_AFR_AF=0.6233;p3_1000G_AMR_AF=0.4092;p3_1000G_AN=5008;p3_1000G_DP=19063;p3_1000G_EAS_AF=0.4653;p3_1000G_EUR_AF=0.4583;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42754912;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6063;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:4,8:12:99:286,0,121
chr3	42730688	rs10865921	C	T	52.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.1;ClippingRankSum=0;DP=8;ExcessHet=3.0103;FS=3.332;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.6;ReadPosRankSum=-0.319;SOR=2.303;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs10865921;dbSNPBuildID=120;ANN=T|upstream_gene_variant|MODIFIER|CCDC13-AS1|CCDC13-AS1|transcript|NR_046732.1|pseudogene||n.-1887C>T|||||1887|,T|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|12/15|c.1596-99G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1374;p3_1000G_AF=0.274361;p3_1000G_AFR_AF=0.2194;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=20775;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.2734;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42772180;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3252;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:5,3:8:81:81,0,170
chr3	42732983	rs17074778	G	A	360.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.15;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=2.098;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=0.559;SOR=1.609;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs17074778;dbSNPBuildID=123;ANN=A|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|11/15|c.1512-13C>T||||||,A|intron_variant|MODIFIER|CCDC13-AS1|CCDC13-AS1|transcript|NR_046732.1|pseudogene|1/3|n.84+325G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=1374;p3_1000G_AF=0.274361;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.2061;p3_1000G_AN=5008;p3_1000G_DP=17635;p3_1000G_EAS_AF=0.3452;p3_1000G_EUR_AF=0.2734;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42774475;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3262;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=959,3313;ESP6500_AA_GTC=104,751,1281;ESP6500_CDS_SIZES=NM_144719.3:2148;ESP6500_CG=-0.5;ESP6500_CP=0.6;ESP6500_DBSNP=dbSNP_123;ESP6500_DP=25;ESP6500_EA_AC=2126,6226;ESP6500_EA_GTC=274,1578,2324;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144719.3:intron;ESP6500_GL=CCDC13;ESP6500_GRCh38_POSITION=3:42732983;ESP6500_GTC=378,2329,3605;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_144719.3:c.1512-13C>T;ESP6500_MAF=25.455,22.4485,24.4376;ESP6500_TAC=3085,9539	GT:AD:DP:GQ:PL	0/1:6,13:19:99:389,0,120
chr3	42743138	rs12635736	A	G	244.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.53;ClippingRankSum=0;DP=17;ExcessHet=3.0103;FS=6.864;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=1.06;SOR=3.312;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12635736;dbSNPBuildID=120;ANN=G|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|7/15|c.826-81T>C||||||,G|intron_variant|MODIFIER|CCDC13-AS1|CCDC13-AS1|transcript|NR_046732.1|pseudogene|3/3|n.338+72A>G||||||;p3_1000G_AA=G|||;p3_1000G_AC=2623;p3_1000G_AF=0.523762;p3_1000G_AFR_AF=0.6172;p3_1000G_AMR_AF=0.4078;p3_1000G_AN=5008;p3_1000G_DP=13005;p3_1000G_EAS_AF=0.4643;p3_1000G_EUR_AF=0.4592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42784630;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:9,8:17:99:273,0,254
chr3	42745977	rs2240859	A	G	389.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.341;ClippingRankSum=0;DP=39;ExcessHet=3.0103;FS=4.677;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.485;SOR=0.876;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2240859;dbSNPBuildID=98;ANN=G|synonymous_variant|LOW|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|7/16|c.771T>C|p.Ser257Ser|855/2830|771/2148|257/715||,G|downstream_gene_variant|MODIFIER|CCDC13-AS1|CCDC13-AS1|transcript|NR_046732.1|pseudogene||n.*819A>G|||||819|;p3_1000G_AA=G|||;p3_1000G_AC=2511;p3_1000G_AF=0.501398;p3_1000G_AFR_AF=0.5439;p3_1000G_AMR_AF=0.402;p3_1000G_AN=5008;p3_1000G_DP=18576;p3_1000G_EAS_AF=0.4534;p3_1000G_EUR_AF=0.4592;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42787469;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2397,2009;ESP6500_AA_AGE=561.2+/-380.7;ESP6500_AA_GTC=650,1097,456;ESP6500_CDS_SIZES=NM_144719.3:2148;ESP6500_CG=2.1;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=91;ESP6500_EA_AC=3943,4657;ESP6500_EA_AGE=602.8+/-394.6;ESP6500_EA_GTC=898,2147,1255;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144719.3:coding-synonymous;ESP6500_GL=CCDC13;ESP6500_GRCh38_POSITION=3:42745977;ESP6500_GTC=1548,3244,1711;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_144719.3:c.771T>C;ESP6500_HGVS_PROTEIN_VAR=NM_144719.3:p.(S257);ESP6500_MAF=45.8488,45.5969,48.7467;ESP6500_TAC=6340,6666	GT:AD:DP:GQ:PL	0/1:22,17:39:99:418,0,556
chr3	42747331	rs73829283	C	A	605.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.119;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.723;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=-1.298;SOR=0.399;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73829283;dbSNPBuildID=130;ANN=A|missense_variant|MODERATE|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|6/16|c.646G>T|p.Ala216Ser|730/2830|646/2148|216/715||,A|downstream_gene_variant|MODIFIER|CCDC13-AS1|CCDC13-AS1|transcript|NR_046732.1|pseudogene||n.*2173C>A|||||2173|;p3_1000G_AA=C|||;p3_1000G_AC=389;p3_1000G_AF=0.0776757;p3_1000G_AFR_AF=0.0923;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=18734;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42788823;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=414,3992;ESP6500_AA_AGE=202.1+/-225.0;ESP6500_AA_GTC=16,382,1805;ESP6500_CDS_SIZES=NM_144719.3:2148;ESP6500_CG=2.0;ESP6500_CP=0.4;ESP6500_DBSNP=dbSNP_130;ESP6500_DP=66;ESP6500_EA_AC=29,8571;ESP6500_EA_AGE=21.6+/-65.8;ESP6500_EA_GTC=0,29,4271;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_144719.3:missense;ESP6500_GL=CCDC13;ESP6500_GRCh38_POSITION=3:42747331;ESP6500_GS=99;ESP6500_GTC=16,411,6076;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_144719.3:c.646G>T;ESP6500_HGVS_PROTEIN_VAR=NM_144719.3:p.(A216S);ESP6500_MAF=0.3372,9.3963,3.4061;ESP6500_PH=possibly-damaging:0.865;ESP6500_TAC=443,12563	GT:AD:DP:GQ:PL	0/1:6,24:30:99:634,0,130
chr3	42751845	rs11929390	T	C	889.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.91;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=4.141;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.72;ReadPosRankSum=0.04;SOR=0.213;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs11929390;dbSNPBuildID=120;ANN=C|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|5/15|c.603+91A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=2507;p3_1000G_AF=0.500599;p3_1000G_AFR_AF=0.5431;p3_1000G_AMR_AF=0.4006;p3_1000G_AN=5008;p3_1000G_DP=17375;p3_1000G_EAS_AF=0.4514;p3_1000G_EUR_AF=0.4592;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42793337;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6074;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:13,23:36:99:0|1:42751845_T_C:918,0,968
chr3	42751848	rs73829287	G	A	886.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.723;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=6.663;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.17;ReadPosRankSum=0.976;SOR=0.13;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs73829287;dbSNPBuildID=130;ANN=A|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|5/15|c.603+88C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=385;p3_1000G_AF=0.076877;p3_1000G_AFR_AF=0.0893;p3_1000G_AMR_AF=0.0375;p3_1000G_AN=5008;p3_1000G_DP=17416;p3_1000G_EAS_AF=0.1855;p3_1000G_EUR_AF=0.006;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42793340;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0491;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,23:40:99:0|1:42751845_T_C:915,0,1000
chr3	42758062	rs35873817;rs878911531	TAC	T	276.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.55;SOR=1.981;DEL;HET;VARTYPE=DEL;dbSNPBuildID=137,147;ANN=T|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|2/15|c.221+61_221+62delGT||||||	GT:AD:DP:GQ:PL	1/0:4,8:12:99:314,132,312
chr3	42758062	rs34078265	TAC	TACAC	276.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.36;ClippingRankSum=0;DP=22;ExcessHet=3.0103;FS=2.935;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.55;SOR=1.981;INS;HET;VARTYPE=INS;dbSNPBuildID=137;ANN=TACAC|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|2/15|c.221+59_221+60dupGT||||||	GT:AD:DP:GQ:PL	0/1:4,8:12:99:314,136,307
chr3	42758366	rs339678	T	A	1047.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.8;SOR=2.694;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs339678;dbSNPBuildID=79;ANN=A|intron_variant|MODIFIER|CCDC13|CCDC13|transcript|NM_144719.3|protein_coding|1/15|c.-6-15A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4905;p3_1000G_AF=0.979433;p3_1000G_AFR_AF=0.9962;p3_1000G_AMR_AF=0.9827;p3_1000G_AN=5008;p3_1000G_DP=19321;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9523;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42799858;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9611;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=4345,61;ESP6500_AA_AGE=56.2+/-92.4;ESP6500_AA_GTC=2143,59,1;ESP6500_CDS_SIZES=NM_144719.3:2148;ESP6500_CG=1.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_79;ESP6500_DP=52;ESP6500_EA_AC=8170,430;ESP6500_EA_AGE=129.8+/-187.9;ESP6500_EA_GTC=3881,408,11;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_144719.3:intron;ESP6500_GL=CCDC13;ESP6500_GRCh38_POSITION=3:42758366;ESP6500_GTC=6024,467,12;ESP6500_GTS=AA,AT,TT;ESP6500_HGVS_CDNA_VAR=NM_144719.3:c.-21A>T;ESP6500_MAF=5.0,1.3845,3.7752;ESP6500_TAC=12515,491	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1076,93,0
chr3	42785945	rs4683332	C	T	593.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=20;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.69;SOR=1.127;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4683332;dbSNPBuildID=111;ANN=T|intron_variant|MODIFIER|HIGD1A|HIGD1A|transcript|NM_001099668.1|protein_coding|3/3|c.274+83G>A||||||,T|intron_variant|MODIFIER|HIGD1A|HIGD1A|transcript|NM_001099669.1|protein_coding|3/3|c.232+83G>A||||||,T|intron_variant|MODIFIER|HIGD1A|HIGD1A|transcript|NM_014056.3|protein_coding|3/3|c.232+83G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=1747;p3_1000G_AF=0.348842;p3_1000G_AFR_AF=0.1089;p3_1000G_AMR_AF=0.4654;p3_1000G_AN=5008;p3_1000G_DP=18083;p3_1000G_EAS_AF=0.6865;p3_1000G_EUR_AF=0.2843;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42827437;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3088;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,20:20:60:622,60,0
chr3	42865108	rs3732859	T	C	914.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.127;ClippingRankSum=0;DP=73;ExcessHet=3.0103;FS=9.876;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.579;SOR=0.825;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3732859;dbSNPBuildID=107;ANN=C|synonymous_variant|LOW|ACKR2|ACKR2|transcript|NM_001296.4|protein_coding|3/3|c.606T>C|p.His202His|785/2960|606/1155|202/384||;p3_1000G_AA=T|||;p3_1000G_AC=98;p3_1000G_AF=0.0195687;p3_1000G_AFR_AF=0.0174;p3_1000G_AMR_AF=0.0202;p3_1000G_AN=5008;p3_1000G_DP=17915;p3_1000G_EAS_AF=0.0565;p3_1000G_EUR_AF=0.002;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42906600;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.002;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=47,4359;ESP6500_AA_AGE=48.9+/-83.8;ESP6500_AA_GTC=0,47,2156;ESP6500_CDS_SIZES=NM_001296.4:1155;ESP6500_CG=-2.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=100;ESP6500_EA_AC=23,8577;ESP6500_EA_AGE=16.0+/-53.3;ESP6500_EA_GTC=0,23,4277;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001296.4:coding-synonymous;ESP6500_GL=CCBP2;ESP6500_GRCh38_POSITION=3:42865108;ESP6500_GTC=0,70,6433;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_001296.4:c.606T>C;ESP6500_HGVS_PROTEIN_VAR=NM_001296.4:p.(H202);ESP6500_MAF=0.2674,1.0667,0.5382;ESP6500_TAC=70,12936	GT:AD:DP:GQ:PL	0/1:37,36:73:99:943,0,1009
chr3	42865620	rs2228468	A	C	1388.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.74;ClippingRankSum=0;DP=76;ExcessHet=3.0103;FS=2.144;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-0.683;SOR=0.468;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2228468;dbSNPBuildID=98;ANN=C|missense_variant|MODERATE|ACKR2|ACKR2|transcript|NM_001296.4|protein_coding|3/3|c.1118A>C|p.Tyr373Ser|1297/2960|1118/1155|373/384||;p3_1000G_AA=C|||;p3_1000G_AC=2209;p3_1000G_AF=0.441094;p3_1000G_AFR_AF=0.2292;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18899;p3_1000G_EAS_AF=0.6776;p3_1000G_EUR_AF=0.4006;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42907112;p3_1000G_GRCH37_REF=A;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4264;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=1123,3283;ESP6500_AA_AGE=713.6+/-408.3;ESP6500_AA_GTC=135,853,1215;ESP6500_CDS_SIZES=NM_001296.4:1155;ESP6500_CG=0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_98;ESP6500_DP=84;ESP6500_EA_AC=3397,5203;ESP6500_EA_AGE=634.2+/-398.8;ESP6500_EA_GTC=687,2023,1590;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001296.4:missense;ESP6500_GL=CCBP2;ESP6500_GRCh38_POSITION=3:42865620;ESP6500_GS=144;ESP6500_GTC=822,2876,2805;ESP6500_GTS=CC,CA,AA;ESP6500_GWAS_PUBMED=http://www.ncbi.nlm.nih.gov/pubmed?term...23314186;ESP6500_HGVS_CDNA_VAR=NM_001296.4:c.1118A>C;ESP6500_HGVS_PROTEIN_VAR=NM_001296.4:p.(Y373S);ESP6500_MAF=39.5,25.488,34.7532;ESP6500_PH=benign:0.0;ESP6500_TAC=4520,8486	GT:AD:DP:GQ:PL	0/1:28,48:76:99:1417,0,684
chr3	42875555	rs9865715	A	G	2550.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=75;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.01;SOR=0.719;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9865715;dbSNPBuildID=119;ANN=G|missense_variant|MODERATE|CYP8B1|CYP8B1|transcript|NM_004391.2|protein_coding|1/1|c.262T>C|p.Ser88Pro|587/3950|262/1506|88/501||;p3_1000G_AA=G|||;p3_1000G_AC=4930;p3_1000G_AF=0.984425;p3_1000G_AFR_AF=0.9425;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=22212;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42917047;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=4199,207;ESP6500_AA_AGE=129.0+/-165.8;ESP6500_AA_GTC=2000,199,4;ESP6500_CDS_SIZES=NM_004391.2:1506;ESP6500_CG=3.2;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=70;ESP6500_EA_AC=8595,5;ESP6500_EA_AGE=3.7+/-12.6;ESP6500_EA_GTC=4295,5,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_004391.2:missense;ESP6500_GL=CYP8B1;ESP6500_GRCh38_POSITION=3:42875555;ESP6500_GS=74;ESP6500_GTC=6295,204,4;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_004391.2:c.262T>C;ESP6500_HGVS_PROTEIN_VAR=NM_004391.2:p.(S88P);ESP6500_MAF=0.0581,4.6981,1.63;ESP6500_PH=benign:0.0;ESP6500_TAC=12794,212	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2579,225,0
chr3	42906284	rs6789928	T	C	160.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=22.97;SOR=0.941;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6789928;dbSNPBuildID=116;ANN=C|5_prime_UTR_variant|MODIFIER|ZNF662|ZNF662|transcript|NM_001134656.1|protein_coding|1/4|c.-68T>C|||||68|,C|intron_variant|MODIFIER|ZNF662|ZNF662|transcript|NM_207404.3|protein_coding|1/4|c.-94+116T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4706;p3_1000G_AF=0.939696;p3_1000G_AFR_AF=0.8192;p3_1000G_AMR_AF=0.9669;p3_1000G_AN=5008;p3_1000G_DP=13304;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9761;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42947776;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,7:7:21:189,21,0
chr3	42913420	rs11129987	C	T	211.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=35.74;SOR=2.303;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs11129987;dbSNPBuildID=120;ANN=T|intron_variant|MODIFIER|ZNF662|ZNF662|transcript|NM_001134656.1|protein_coding|3/3|c.332-907C>T||||||,T|intron_variant|MODIFIER|ZNF662|ZNF662|transcript|NM_207404.3|protein_coding|4/4|c.253+118C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=3805;p3_1000G_AF=0.759784;p3_1000G_AFR_AF=0.472;p3_1000G_AMR_AF=0.817;p3_1000G_AN=5008;p3_1000G_DP=18947;p3_1000G_EAS_AF=0.9603;p3_1000G_EUR_AF=0.7922;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42954912;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8681;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:240,18,0
chr3	42914781	rs1427801	T	C	2042.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=64;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.42;SOR=0.933;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1427801;dbSNPBuildID=88;ANN=C|synonymous_variant|LOW|ZNF662|ZNF662|transcript|NM_001134656.1|protein_coding|4/4|c.786T>C|p.Ile262Ile|972/5524|786/1359|262/452||,C|synonymous_variant|LOW|ZNF662|ZNF662|transcript|NM_207404.3|protein_coding|5/5|c.708T>C|p.Ile236Ile|1060/5612|708/1281|236/426||;p3_1000G_AA=C|||;p3_1000G_AC=4703;p3_1000G_AF=0.939097;p3_1000G_AFR_AF=0.8185;p3_1000G_AMR_AF=0.9654;p3_1000G_AN=5008;p3_1000G_DP=21347;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9751;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42956273;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9836;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3708,698;ESP6500_AA_AGE=293.0+/-282.3;ESP6500_AA_GTC=1549,610,44;ESP6500_CDS_SIZES=NM_207404.3:1281,NM_001134656.1:1359;ESP6500_CG=2.4;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=107;ESP6500_EA_AC=8410,190;ESP6500_EA_AGE=84.5+/-147.0;ESP6500_EA_GTC=4111,188,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_207404.3:coding-synonymous,NM_001134656.1:coding-synonymous;ESP6500_GL=ZNF662;ESP6500_GRCh38_POSITION=3:42914781;ESP6500_GTC=5660,798,45;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_207404.3:c.708T>C,NM_001134656.1:c.786T>C;ESP6500_HGVS_PROTEIN_VAR=NM_207404.3:p.(I236),NM_001134656.1:p.(I262);ESP6500_MAF=2.2093,15.842,6.8276;ESP6500_TAC=12118,888	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2071,189,0
chr3	42942615	rs80205879	C	T	225.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.473;ClippingRankSum=0;DP=27;ExcessHet=3.0103;FS=1.527;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-1.442;SOR=0.385;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs80205879;dbSNPBuildID=131;ANN=T|missense_variant|MODERATE|KRBOX1|KRBOX1|transcript|NM_001205272.1|protein_coding|5/5|c.355C>T|p.Arg119Cys|515/691|355/387|119/128||;p3_1000G_AA=C|||;p3_1000G_AC=108;p3_1000G_AF=0.0215655;p3_1000G_AFR_AF=0.0189;p3_1000G_AMR_AF=0.0231;p3_1000G_AN=5008;p3_1000G_DP=11320;p3_1000G_EAS_AF=0.0605;p3_1000G_EUR_AF=0.003;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=42984107;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0031;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:14,13:27:99:254,0,337
chr3	43032269	rs658958	G	A	341.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.033;ClippingRankSum=0;DP=37;ExcessHet=3.0103;FS=1.392;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.768;SOR=0.387;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs658958;dbSNPBuildID=83;ANN=A|splice_region_variant&synonymous_variant|LOW|FAM198A|FAM198A|transcript|NM_001129908.2|protein_coding|2/5|c.6G>A|p.Ala2Ala|382/3434|6/1728|2/575||;p3_1000G_AA=G|||;p3_1000G_AC=2195;p3_1000G_AF=0.438299;p3_1000G_AFR_AF=0.3404;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=20480;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43073761;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=454,930;ESP6500_AA_GTC=72,310,310;ESP6500_CDS_SIZES=NM_001129908.2:1728;ESP6500_CG=-5.3;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=27;ESP6500_EA_AC=1298,1884;ESP6500_EA_GTC=269,760,562;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001129908.2:coding-synonymous;ESP6500_GL=FAM198A;ESP6500_GRCh38_POSITION=3:43032269;ESP6500_GTC=341,1070,872;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_001129908.2:c.6G>A;ESP6500_HGVS_PROTEIN_VAR=NM_001129908.2:p.(A2);ESP6500_MAF=40.792,32.8035,38.3706;ESP6500_TAC=1752,2814	GT:AD:DP:GQ:PL	0/1:21,16:37:99:370,0,500
chr3	43032938	rs2948619	A	G	1214.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.66;ClippingRankSum=0;DP=48;ExcessHet=3.0103;FS=2.551;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.31;ReadPosRankSum=0.624;SOR=0.506;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2948619;dbSNPBuildID=101;ANN=G|synonymous_variant|LOW|FAM198A|FAM198A|transcript|NM_001129908.2|protein_coding|2/5|c.675A>G|p.Gly225Gly|1051/3434|675/1728|225/575||;p3_1000G_AA=G|||;p3_1000G_AC=3381;p3_1000G_AF=0.67512;p3_1000G_AFR_AF=0.6407;p3_1000G_AMR_AF=0.7118;p3_1000G_AN=5008;p3_1000G_DP=20629;p3_1000G_EAS_AF=0.8016;p3_1000G_EUR_AF=0.5606;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43074430;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.683;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=870,514;ESP6500_AA_GTC=277,316,99;ESP6500_CDS_SIZES=NM_001129908.2:1728;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=23;ESP6500_EA_AC=1760,1422;ESP6500_EA_GTC=491,778,322;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001129908.2:coding-synonymous;ESP6500_GL=FAM198A;ESP6500_GRCh38_POSITION=3:43032938;ESP6500_GTC=768,1094,421;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001129908.2:c.675A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001129908.2:p.(G225);ESP6500_MAF=44.6889,37.1387,42.4004;ESP6500_TAC=2630,1936	GT:AD:DP:GQ:PGT:PID:PL	0/1:17,31:48:99:0|1:43032938_A_G:1243,0,1048
chr3	43032942	rs2936817	C	T	1248.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.296;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=4.235;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.49;ReadPosRankSum=1.43;SOR=0.634;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2936817;dbSNPBuildID=101;ANN=T|missense_variant|MODERATE|FAM198A|FAM198A|transcript|NM_001129908.2|protein_coding|2/5|c.679C>T|p.His227Tyr|1055/3434|679/1728|227/575||;p3_1000G_AA=C|||;p3_1000G_AC=2197;p3_1000G_AF=0.438698;p3_1000G_AFR_AF=0.3419;p3_1000G_AMR_AF=0.5331;p3_1000G_AN=5008;p3_1000G_DP=20734;p3_1000G_EAS_AF=0.6518;p3_1000G_EUR_AF=0.4066;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43074434;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.316;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=454,930;ESP6500_AA_GTC=72,310,310;ESP6500_CDS_SIZES=NM_001129908.2:1728;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=23;ESP6500_EA_AC=1295,1887;ESP6500_EA_GTC=270,755,566;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001129908.2:missense;ESP6500_GL=FAM198A;ESP6500_GRCh38_POSITION=3:43032942;ESP6500_GS=83;ESP6500_GTC=342,1065,876;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_001129908.2:c.679C>T;ESP6500_HGVS_PROTEIN_VAR=NM_001129908.2:p.(H227Y);ESP6500_MAF=40.6977,32.8035,38.3049;ESP6500_PH=possibly-damaging:0.65;ESP6500_TAC=1749,2817	GT:AD:DP:GQ:PGT:PID:PL	0/1:18,31:49:99:0|1:43032938_A_G:1277,0,1045
chr3	43033379	rs588335	A	G	2221.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=67;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.16;SOR=1.066;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs588335;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|FAM198A|FAM198A|transcript|NM_001129908.2|protein_coding|2/5|c.1116A>G|p.Ala372Ala|1492/3434|1116/1728|372/575||;p3_1000G_AA=G|||;p3_1000G_AC=4749;p3_1000G_AF=0.948283;p3_1000G_AFR_AF=0.8411;p3_1000G_AMR_AF=0.9755;p3_1000G_AN=5008;p3_1000G_DP=17544;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9831;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43074871;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9847;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1173,211;ESP6500_AA_GTC=502,169,21;ESP6500_CDS_SIZES=NM_001129908.2:1728;ESP6500_CG=-10.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=43;ESP6500_EA_AC=3137,45;ESP6500_EA_GTC=1547,43,1;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001129908.2:coding-synonymous;ESP6500_GL=FAM198A;ESP6500_GRCh38_POSITION=3:43033379;ESP6500_GTC=2049,212,22;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001129908.2:c.1116A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001129908.2:p.(A372);ESP6500_MAF=1.4142,15.2457,5.6067;ESP6500_TAC=4310,256	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2250,201,0
chr3	43053609	rs536119	A	G	322.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.54;ClippingRankSum=0;DP=30;ExcessHet=3.0103;FS=1.485;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.665;SOR=0.32;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs536119;dbSNPBuildID=83;ANN=G|missense_variant|MODERATE|FAM198A|FAM198A|transcript|NM_001129908.2|protein_coding|3/5|c.1379A>G|p.Gln460Arg|1755/3434|1379/1728|460/575||;p3_1000G_AA=G|||;p3_1000G_AC=2710;p3_1000G_AF=0.541134;p3_1000G_AFR_AF=0.4644;p3_1000G_AMR_AF=0.6686;p3_1000G_AN=5008;p3_1000G_DP=16542;p3_1000G_EAS_AF=0.6696;p3_1000G_EUR_AF=0.5954;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43095101;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3661;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=625,759;ESP6500_AA_GTC=142,341,209;ESP6500_CDS_SIZES=NM_001129908.2:1728;ESP6500_CG=0.7;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=40;ESP6500_EA_AC=1929,1253;ESP6500_EA_GTC=582,765,244;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_001129908.2:missense;ESP6500_GL=FAM198A;ESP6500_GRCh38_POSITION=3:43053609;ESP6500_GS=43;ESP6500_GTC=724,1106,453;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001129908.2:c.1379A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001129908.2:p.(Q460R);ESP6500_MAF=39.3777,45.159,44.0648;ESP6500_PH=benign:0.0;ESP6500_TAC=2554,2012	GT:AD:DP:GQ:PL	0/1:15,15:30:99:351,0,380
chr3	43056218	rs664628	A	G	343.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=2.29;ClippingRankSum=0;DP=41;ExcessHet=3.0103;FS=2.925;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0;SOR=1.294;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs664628;dbSNPBuildID=83;ANN=G|synonymous_variant|LOW|FAM198A|FAM198A|transcript|NM_001129908.2|protein_coding|5/5|c.1560A>G|p.Leu520Leu|1936/3434|1560/1728|520/575||;p3_1000G_AA=A|||;p3_1000G_AC=1950;p3_1000G_AF=0.389377;p3_1000G_AFR_AF=0.2685;p3_1000G_AMR_AF=0.5058;p3_1000G_AN=5008;p3_1000G_DP=19848;p3_1000G_EAS_AF=0.5823;p3_1000G_EUR_AF=0.3887;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43097710;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.272;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=400,984;ESP6500_AA_GTC=56,288,348;ESP6500_CDS_SIZES=NM_001129908.2:1728;ESP6500_CG=-3.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=42;ESP6500_EA_AC=1211,1971;ESP6500_EA_GTC=234,743,614;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_001129908.2:coding-synonymous;ESP6500_GL=FAM198A;ESP6500_GRCh38_POSITION=3:43056218;ESP6500_GTC=290,1031,962;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_001129908.2:c.1560A>G;ESP6500_HGVS_PROTEIN_VAR=NM_001129908.2:p.(L520);ESP6500_MAF=38.0578,28.9017,35.2825;ESP6500_TAC=1611,2955	GT:AD:DP:GQ:PL	0/1:27,14:41:99:372,0,677
chr3	43080067	rs604033;262104	C	T	1394.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.896;ClippingRankSum=0;DP=115;ExcessHet=3.0103;FS=2.39;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.508;SOR=0.897;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs604033;dbSNPBuildID=83;ANN=T|synonymous_variant|LOW|POMGNT2|POMGNT2|transcript|NM_032806.5|protein_coding|2/2|c.1365G>A|p.Pro455Pro|1718/2556|1365/1743|455/580||;p3_1000G_AA=C|||;p3_1000G_AC=3920;p3_1000G_AF=0.782748;p3_1000G_AFR_AF=0.8275;p3_1000G_AMR_AF=0.8127;p3_1000G_AN=5008;p3_1000G_DP=21590;p3_1000G_EAS_AF=0.7401;p3_1000G_EUR_AF=0.7922;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43121559;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7352;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3589,817;ESP6500_AA_AGE=745.7+/-411.7;ESP6500_AA_GTC=1450,689,64;ESP6500_CDS_SIZES=NM_032806.4:1743;ESP6500_CG=-11.1;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_83;ESP6500_DP=40;ESP6500_EA_AC=6872,1728;ESP6500_EA_AGE=732.5+/-406.8;ESP6500_EA_GTC=2730,1412,158;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032806.4:coding-synonymous;ESP6500_GL=GTDC2;ESP6500_GRCh38_POSITION=3:43080067;ESP6500_GTC=4180,2101,222;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_032806.4:c.1365G>A;ESP6500_HGVS_PROTEIN_VAR=NM_032806.4:p.(P455);ESP6500_MAF=20.093,18.5429,19.5679;ESP6500_TAC=10461,2545;CLINVAR_ALLELEID=251133;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.43080067C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=POMGNT2:84892;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=604033	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1423,0,1504
chr3	43081474	rs2936818;262102	G	A	99.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.494;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=2.817;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=0.124;SOR=0.136;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs371467219,rs2936818;dbSNPBuildID=101;ANN=A|5_prime_UTR_variant|MODIFIER|POMGNT2|POMGNT2|transcript|NM_032806.5|protein_coding|2/2|c.-43C>T|||||43|;p3_1000G_AA=G|||;p3_1000G_AC=2266;p3_1000G_AF=0.452476;p3_1000G_AFR_AF=0.2186;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=21739;p3_1000G_EAS_AF=0.624;p3_1000G_EUR_AF=0.4662;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43122966;p3_1000G_GRCH37_REF=G;p3_1000G_MULTI_ALLELIC;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5061;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1068,3086;ESP6500_AA_GTC=191,686,1200;ESP6500_CDS_SIZES=NM_032806.4:1743;ESP6500_CG=-0.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_101;ESP6500_DP=5;ESP6500_EA_AC=3661,4469;ESP6500_EA_GTC=958,1745,1362;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_032806.4:utr-5;ESP6500_GL=GTDC2;ESP6500_GRCh38_POSITION=3:43081474;ESP6500_GTC=1149,2431,2562;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_032806.4:c.-43C>T;ESP6500_MAF=45.0308,25.7102,38.4972;ESP6500_TAC=4729,7555;CLINVAR_AF_TGP=0.4525;CLINVAR_ALLELEID=251138;CLINVAR_CLNDISDB=MedGen:CN169374;CLINVAR_CLNDN=not_specified;CLINVAR_CLNHGVS=NC_000003.12:g.43081474G>A;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_GENEINFO=POMGNT2:84892;CLINVAR_MC=SO:0001623|5_prime_UTR_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=2936818	GT:AD:DP:GQ:PL	0/1:7,5:12:99:128,0,253
chr3	43372826	rs6441771	A	G	1347.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=44;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.34;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6441771;dbSNPBuildID=116;ANN=G|missense_variant|MODERATE|ANO10|ANO10|transcript|NM_001204831.1|protein_coding|12/13|c.1819T>C|p.Ser607Pro|1990/2737|1819/1884|607/627||,G|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_018075.3|protein_coding|12/12|c.1915-5852T>C||||||,G|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204832.1|protein_coding|11/11|c.1717-5852T>C||||||,G|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204833.1|protein_coding|10/10|c.1582-5852T>C||||||,G|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204834.1|protein_coding|11/11|c.1345-5852T>C||||||;p3_1000G_AA=G|||;p3_1000G_AC=4915;p3_1000G_AF=0.98143;p3_1000G_AFR_AF=0.9327;p3_1000G_AMR_AF=0.9942;p3_1000G_AN=5008;p3_1000G_DP=17649;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43414318;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,43:43:99:1|1:43372826_A_G:1376,128,0
chr3	43549650	rs12638282	G	A	508.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.19;SOR=1.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs12638282;dbSNPBuildID=120;ANN=A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_018075.3|protein_coding|11/12|c.1797+70C>T||||||,A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204831.1|protein_coding|11/12|c.1797+70C>T||||||,A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204832.1|protein_coding|10/11|c.1599+70C>T||||||,A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204833.1|protein_coding|9/10|c.1464+70C>T||||||,A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204834.1|protein_coding|10/11|c.1227+70C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2715;p3_1000G_AF=0.542133;p3_1000G_AFR_AF=0.1853;p3_1000G_AMR_AF=0.6066;p3_1000G_AN=5008;p3_1000G_DP=20857;p3_1000G_EAS_AF=0.8274;p3_1000G_EUR_AF=0.5497;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43591142;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6769;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,14:14:42:537,42,0
chr3	43551414	rs9829081	T	C	918.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=28;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=2.468;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9829081;dbSNPBuildID=119;ANN=C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_018075.3|protein_coding|10/12|c.1669-1566A>G||||||,C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204831.1|protein_coding|10/12|c.1669-1566A>G||||||,C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204832.1|protein_coding|9/11|c.1471-1566A>G||||||,C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204833.1|protein_coding|8/10|c.1336-1566A>G||||||,C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204834.1|protein_coding|9/11|c.1099-1566A>G||||||;p3_1000G_AA=C|||;p3_1000G_AC=4245;p3_1000G_AF=0.847644;p3_1000G_AFR_AF=0.9455;p3_1000G_AMR_AF=0.8386;p3_1000G_AN=5008;p3_1000G_DP=18831;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.6958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43592906;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8374;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,28:28:84:947,84,0
chr3	43561311	rs3772165;128387	C	T	1732.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=61;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.41;SOR=1.727;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3772165;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|ANO10|ANO10|transcript|NM_018075.3|protein_coding|9/13|c.1385G>A|p.Arg462Gln|1556/2734|1385/1983|462/660||,T|missense_variant|MODERATE|ANO10|ANO10|transcript|NM_001204831.1|protein_coding|9/13|c.1385G>A|p.Arg462Gln|1556/2737|1385/1884|462/627||,T|missense_variant|MODERATE|ANO10|ANO10|transcript|NM_001204832.1|protein_coding|8/12|c.1187G>A|p.Arg396Gln|1358/2536|1187/1785|396/594||,T|missense_variant|MODERATE|ANO10|ANO10|transcript|NM_001204833.1|protein_coding|7/11|c.1052G>A|p.Arg351Gln|1223/2401|1052/1650|351/549||,T|missense_variant|MODERATE|ANO10|ANO10|transcript|NM_001204834.1|protein_coding|8/12|c.815G>A|p.Arg272Gln|986/2164|815/1413|272/470||;p3_1000G_AA=C|||;p3_1000G_AC=3321;p3_1000G_AF=0.663139;p3_1000G_AFR_AF=0.4463;p3_1000G_AMR_AF=0.7334;p3_1000G_AN=5008;p3_1000G_DP=16590;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.5785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43602803;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2193,2213;ESP6500_AA_AGE=586.4+/-386.5;ESP6500_AA_GTC=547,1099,557;ESP6500_CDS_SIZES=NM_018075.3:1983,NM_001204834.1:1413,NM_001204833.1:1650,NM_001204832.1:1785,NM_001204831.1:1884;ESP6500_CG=-5.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=123;ESP6500_EA_AC=5050,3550;ESP6500_EA_AGE=630.8+/-398.4;ESP6500_EA_GTC=1511,2028,761;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_018075.3:missense,NM_001204834.1:missense,NM_001204833.1:missense,NM_001204832.1:missense,NM_001204831.1:missense;ESP6500_GL=ANO10;ESP6500_GRCh38_POSITION=3:43561311;ESP6500_GS=43,43,43,43,43;ESP6500_GTC=2058,3127,1318;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_018075.3:c.1385G>A,NM_001204834.1:c.815G>A,NM_001204833.1:c.1052G>A,NM_001204832.1:c.1187G>A,NM_001204831.1:c.1385G>A;ESP6500_HGVS_PROTEIN_VAR=NM_018075.3:p.(R462Q),NM_001204834.1:p.(R272Q),NM_001204833.1:p.(R351Q),NM_001204832.1:p.(R396Q),NM_001204831.1:p.(R462Q);ESP6500_MAF=41.2791,49.773,44.3103;ESP6500_PH=possibly-damaging:0.63,possibly-damaging:0.63,possibly-damaging:0.63,possibly-damaging:0.63,possibly-damaging:0.63;ESP6500_TAC=7243,5763;CLINVAR_ALLELEID=133836;CLINVAR_CLNDISDB=MedGen:C3150998,OMIM:613728,Orphanet:ORPHA284289|MedGen:CN169374|MedGen:CN226644,Orphanet:ORPHA1172;CLINVAR_CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_10|not_specified|Autosomal_recessive_cerebellar_ataxia;CLINVAR_CLNHGVS=NC_000003.12:g.43561311C>T;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32110|UniProtKB_(protein):Q9NW15#VAR_032638;CLINVAR_GENEINFO=ANO10:55129;CLINVAR_MC=SO:0001583|missense_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=3772165	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1761,183,0
chr3	43565644	rs7616708;260993	T	C	156.79	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=8;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=19.6;SOR=1.179;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs7616708;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_018075.3|protein_coding|8/12|c.1293+9A>G||||||,C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204831.1|protein_coding|8/12|c.1293+9A>G||||||,C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204832.1|protein_coding|7/11|c.1095+9A>G||||||,C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204833.1|protein_coding|6/10|c.960+9A>G||||||,C|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204834.1|protein_coding|7/11|c.723+9A>G||||||;p3_1000G_AA=T|||;p3_1000G_AC=3189;p3_1000G_AF=0.636781;p3_1000G_AFR_AF=0.3495;p3_1000G_AMR_AF=0.7233;p3_1000G_AN=5008;p3_1000G_DP=15999;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.5785;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43607136;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7679;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=1818,2586;ESP6500_AA_GTC=389,1040,773;ESP6500_CDS_SIZES=NM_018075.3:1983,NM_001204834.1:1413,NM_001204833.1:1650,NM_001204832.1:1785,NM_001204831.1:1884;ESP6500_CG=0.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=37;ESP6500_EA_AC=5025,3561;ESP6500_EA_GTC=1536,1953,804;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_018075.3:intron,NM_001204834.1:intron,NM_001204833.1:intron,NM_001204832.1:intron,NM_001204831.1:intron;ESP6500_GL=ANO10;ESP6500_GRCh38_POSITION=3:43565644;ESP6500_GTC=1925,2993,1577;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_018075.3:c.1293+9A>G,NM_001204834.1:c.723+9A>G,NM_001204833.1:c.960+9A>G,NM_001204832.1:c.1095+9A>G,NM_001204831.1:c.1293+9A>G;ESP6500_MAF=41.4745,41.2807,47.321;ESP6500_TAC=6843,6147;CLINVAR_ALLELEID=251139;CLINVAR_CLNDISDB=MedGen:C3150998,OMIM:613728,Orphanet:ORPHA284289|MedGen:CN169374|MedGen:CN226644,Orphanet:ORPHA1172;CLINVAR_CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_10|not_specified|Autosomal_recessive_cerebellar_ataxia;CLINVAR_CLNHGVS=NC_000003.12:g.43565644T>C;CLINVAR_CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLINVAR_CLNSIG=Benign;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:32121;CLINVAR_GENEINFO=ANO10:55129;CLINVAR_MC=SO:0001627|intron_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=7616708	GT:AD:DP:GQ:PL	1/1:0,8:8:23:185,23,0
chr3	43600634	rs6441785	C	A	167.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=51.4;QD=27.97;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6441785;dbSNPBuildID=116;ANN=A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_018075.3|protein_coding|2/12|c.140-53G>T||||||,A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204831.1|protein_coding|2/12|c.140-53G>T||||||,A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204832.1|protein_coding|2/11|c.140-1968G>T||||||,A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204833.1|protein_coding|2/10|c.139+5080G>T||||||,A|intron_variant|MODIFIER|ANO10|ANO10|transcript|NM_001204834.1|protein_coding|2/11|c.140-53G>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=4135;p3_1000G_AF=0.825679;p3_1000G_AFR_AF=0.8646;p3_1000G_AMR_AF=0.8343;p3_1000G_AN=5008;p3_1000G_DP=14470;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.6958;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43642126;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8374;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:196,18,0
chr3	43702511	rs767197048;345219	T	C	882.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.61;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=5.68;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.062;SOR=1.569;SNP;HET;VARTYPE=SNP;dbSNPBuildID=144;ANN=C|synonymous_variant|LOW|ABHD5|ABHD5|transcript|NM_016006.4|protein_coding|3/7|c.430T>C|p.Leu144Leu|540/5353|430/1050|144/349||;CLINVAR_AF_EXAC=0.00009;CLINVAR_ALLELEID=291278;CLINVAR_CLNDISDB=MedGen:C0268238,OMIM:275630,Orphanet:ORPHA98907,SNOMED_CT:19604005;CLINVAR_CLNDN=Triglyceride_storage_disease_with_ichthyosis;CLINVAR_CLNHGVS=NC_000003.12:g.43702511T>C;CLINVAR_CLNREVSTAT=criteria_provided,_single_submitter;CLINVAR_CLNSIG=Uncertain_significance;CLINVAR_CLNVC=single_nucleotide_variant;CLINVAR_CLNVCSO=SO:0001483;CLINVAR_CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:261984;CLINVAR_GENEINFO=ABHD5:51099;CLINVAR_MC=SO:0001819|synonymous_variant;CLINVAR_ORIGIN=1;CLINVAR_RS=767197048	GT:AD:DP:GQ:PL	0/1:31,30:61:99:911,0,742
chr3	43715085	rs10662733	C	CTG	320.76	PASS	AC=2;SAMPLES_AF=1;AN=2;BaseQRankSum=-0.706;ClippingRankSum=0;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=22.91;ReadPosRankSum=-0.251;SOR=2.448;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs10662733;dbSNPBuildID=135;ANN=CTG|intron_variant|MODIFIER|ABHD5|ABHD5|transcript|NM_016006.4|protein_coding|5/6|c.773+61_773+62dupGT||||||INFO_REALIGN_3_PRIME;p3_1000G_AC=2123;p3_1000G_AF=0.423922;p3_1000G_AFR_AF=0.4054;p3_1000G_AMR_AF=0.4294;p3_1000G_AN=5008;p3_1000G_DP=13977;p3_1000G_EAS_AF=0.4425;p3_1000G_EUR_AF=0.4602;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=43756577;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.3885;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:1,13:14:22:358,22,0
chr3	44321211	rs146369820	A	G	269.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.211;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=3.925;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.584;SOR=0.223;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs146369820;dbSNPBuildID=134;ANN=G|intron_variant|MODIFIER|TOPAZ1|TOPAZ1|transcript|NM_001145030.1|protein_coding|17/19|c.4471+20A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=25;p3_1000G_AF=0.00499201;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15897;p3_1000G_EAS_AF=0.0139;p3_1000G_EUR_AF=0;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44362703;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0112;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:10,13:23:99:298,0,255
chr3	44358176	rs4682970	T	C	1471.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=52;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=28.3;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4682970;dbSNPBuildID=111;ANN=C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282913.1|protein_coding|3/10|c.165+300T>C||||||,C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001029840.2|protein_coding|3/3|c.166-41T>C||||||,C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282915.1|protein_coding|3/10|c.-192+300T>C||||||,C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001029839.2|protein_coding|3/3|c.166-41T>C||||||,C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282914.1|protein_coding|3/10|c.-192+300T>C||||||,C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_173826.3|protein_coding|3/10|c.165+300T>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4396;p3_1000G_AF=0.877796;p3_1000G_AFR_AF=0.6732;p3_1000G_AMR_AF=0.915;p3_1000G_AN=5008;p3_1000G_DP=15891;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.8897;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44399668;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2626,1034;ESP6500_AA_GTC=952,722,156;ESP6500_CDS_SIZES=NM_173826.3:1491,NM_001029840.2:213,NM_001029839.2:213;ESP6500_CG=-0.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=49;ESP6500_EA_AC=7200,952;ESP6500_EA_GTC=3174,852,50;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173826.3:intron,NM_001029840.2:intron,NM_001029839.2:intron;ESP6500_GL=TCAIM;ESP6500_GRCh38_POSITION=3:44358176;ESP6500_GTC=4126,1574,206;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_173826.3:c.165+300T>C,NM_001029840.2:c.166-41T>C,NM_001029839.2:c.166-41T>C;ESP6500_MAF=11.6781,28.2514,16.8134;ESP6500_TAC=9826,1986	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1500,153,0
chr3	44358201	rs760124398	C	CT	81.73	MG_INDEL_Filter	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.374;ClippingRankSum=0;DP=60;ExcessHet=3.0103;FS=2.626;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=-0.112;SOR=0.762;INS;HET;VARTYPE=INS;dbSNPBuildID=144;ANN=CT|splice_region_variant&intron_variant|LOW|TCAIM|TCAIM|transcript|NM_001029840.2|protein_coding|3/3|c.166-4dupT||||||INFO_REALIGN_3_PRIME,CT|splice_region_variant&intron_variant|LOW|TCAIM|TCAIM|transcript|NM_001029839.2|protein_coding|3/3|c.166-4dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282913.1|protein_coding|3/10|c.165+337dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282915.1|protein_coding|3/10|c.-192+337dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282914.1|protein_coding|3/10|c.-192+337dupT||||||INFO_REALIGN_3_PRIME,CT|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_173826.3|protein_coding|3/10|c.165+337dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:35,11:46:99:119,0,814
chr3	44367372	rs372993721;rs386396502;rs75970869	G	GT	162.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.13;SOR=2.303;INS;HOM;VARTYPE=INS;dbSNP138_ID=rs75970869,rs372993721;dbSNPBuildID=131,138,138;ANN=GT|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282913.1|protein_coding|4/10|c.320-81dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282915.1|protein_coding|4/10|c.-37-157dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282914.1|protein_coding|4/10|c.-37-157dupT||||||INFO_REALIGN_3_PRIME,GT|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_173826.3|protein_coding|4/10|c.320-81dupT||||||INFO_REALIGN_3_PRIME;p3_1000G_AA=TTTT|TTT|TTTT|deletion;p3_1000G_AC=4519;p3_1000G_AF=0.902356;p3_1000G_AFR_AF=0.7451;p3_1000G_AMR_AF=0.9337;p3_1000G_AN=5008;p3_1000G_DP=18734;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.9046;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44408864;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9898;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,6:6:18:200,18,0
chr3	44396289	rs28439262	G	A	153.9	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=5;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.78;SOR=3.611;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs28439262;dbSNPBuildID=125;ANN=A|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282913.1|protein_coding|6/10|c.696-111G>A||||||,A|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282915.1|protein_coding|6/10|c.264-111G>A||||||,A|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282914.1|protein_coding|6/10|c.264-111G>A||||||,A|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_173826.3|protein_coding|6/10|c.696-111G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=651;p3_1000G_AF=0.129992;p3_1000G_AFR_AF=0.1241;p3_1000G_AMR_AF=0.1556;p3_1000G_AN=5008;p3_1000G_DP=16216;p3_1000G_EAS_AF=0.1706;p3_1000G_EUR_AF=0.0964;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44437781;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.1125;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,5:5:15:182,15,0
chr3	44396378	rs6441838	A	C	496.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=14;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.06;SOR=2.985;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6441838;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282913.1|protein_coding|6/10|c.696-22A>C||||||,C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282915.1|protein_coding|6/10|c.264-22A>C||||||,C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_001282914.1|protein_coding|6/10|c.264-22A>C||||||,C|intron_variant|MODIFIER|TCAIM|TCAIM|transcript|NM_173826.3|protein_coding|6/10|c.696-22A>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=4834;p3_1000G_AF=0.965256;p3_1000G_AFR_AF=0.8767;p3_1000G_AMR_AF=0.9856;p3_1000G_AN=5008;p3_1000G_DP=14485;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44437870;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3949,457;ESP6500_AA_AGE=213.5+/-233.1;ESP6500_AA_GTC=1767,415,21;ESP6500_CDS_SIZES=NM_173826.3:1491;ESP6500_CG=-2.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=31;ESP6500_EA_AC=8597,3;ESP6500_EA_AGE=3.0+/-9.4;ESP6500_EA_GTC=4297,3,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_173826.3:intron;ESP6500_GL=TCAIM;ESP6500_GRCh38_POSITION=3:44396378;ESP6500_GTC=6064,418,21;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_173826.3:c.696-22A>C;ESP6500_MAF=0.0349,10.3722,3.5368;ESP6500_TAC=12546,460	GT:AD:DP:GQ:PL	1/1:0,14:14:42:525,42,0
chr3	44421706	rs12493586	G	A	817.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.961;ClippingRankSum=0;DP=49;ExcessHet=3.0103;FS=1.094;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.041;SOR=0.544;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs12493586;dbSNPBuildID=120;ANN=A|non_coding_transcript_exon_variant|MODIFIER|LOC102724231|LOC102724231|transcript|NR_134942.1|pseudogene|2/2|n.179C>T||||||,A|non_coding_transcript_exon_variant|MODIFIER|LOC102724231|LOC102724231|transcript|NR_134943.1|pseudogene|2/2|n.171C>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=551;p3_1000G_AF=0.110024;p3_1000G_AFR_AF=0.0741;p3_1000G_AMR_AF=0.147;p3_1000G_AN=5008;p3_1000G_DP=17347;p3_1000G_EAS_AF=0.1567;p3_1000G_EUR_AF=0.0974;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44463198;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.0971;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:19,30:49:99:846,0,479
chr3	44499299	rs36046723;rs554288350	TTC	T	1214.73	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=32;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.34;SOR=0.906;DEL;HOM;VARTYPE=DEL;dbSNP138_ID=rs36046723;dbSNPBuildID=136,142;ANN=T|splice_acceptor_variant&splice_donor_variant&intron_variant|HIGH|ZNF852|ZNF852|transcript|NM_001287349.1|protein_coding|4/4|c.1475+1_1476-1delGA||||||;LOF=(ZNF852|ZNF852|1|1.00);p3_1000G_AC=5006;p3_1000G_AF=0.999601;p3_1000G_AFR_AF=1;p3_1000G_AMR_AF=0.9986;p3_1000G_AN=5008;p3_1000G_DP=21637;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.999;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44540791;p3_1000G_GRCH37_REF=TTC;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=INDEL	GT:AD:DP:GQ:PL	1/1:0,29:29:87:1252,87,0
chr3	44570558	rs9873604	C	T	680.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.324;ClippingRankSum=0;DP=47;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.685;SOR=0.61;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs9873604;dbSNPBuildID=119;ANN=T|missense_variant|MODERATE|ZKSCAN7|ZKSCAN7|transcript|NM_001288590.1|protein_coding|6/6|c.1448C>T|p.Thr483Ile|1873/3473|1448/2265|483/754||,T|missense_variant|MODERATE|ZKSCAN7|ZKSCAN7|transcript|NM_018651.3|protein_coding|6/6|c.1448C>T|p.Thr483Ile|1910/3510|1448/2265|483/754||,T|missense_variant|MODERATE|ZKSCAN7|ZKSCAN7|transcript|NM_001288592.1|protein_coding|5/6|c.995C>T|p.Thr332Ile|1329/1929|995/1122|332/373||,T|intron_variant|MODIFIER|ZKSCAN7|ZKSCAN7|transcript|NM_001288591.1|protein_coding|5/5|c.811+2125C>T||||||,T|intron_variant|MODIFIER|ZKSCAN7|ZKSCAN7|transcript|NM_025169.2|protein_coding|5/5|c.811+2125C>T||||||;p3_1000G_AA=.|||;p3_1000G_AC=3767;p3_1000G_AF=0.752196;p3_1000G_AFR_AF=0.6694;p3_1000G_AMR_AF=0.7305;p3_1000G_AN=5008;p3_1000G_DP=19798;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.7545;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44612050;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7924;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=2965,1441;ESP6500_AA_GTC=998,969,236;ESP6500_CDS_SIZES=NM_025169.1:831,NM_018651.2:2265;ESP6500_CG=-1.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=96;ESP6500_EA_AC=6198,2402;ESP6500_EA_GTC=2240,1718,342;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_025169.1:intron,NM_018651.2:missense;ESP6500_GL=ZNF167;ESP6500_GRCh38_POSITION=3:44570558;ESP6500_GS=.,89;ESP6500_GTC=3238,2687,578;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_025169.1:c.811+2125C>T,NM_018651.2:c.1448C>T;ESP6500_HGVS_PROTEIN_VAR=.,NM_018651.2:p.(T483I);ESP6500_MAF=27.9302,32.7054,29.5479;ESP6500_PH=.,benign:0.0;ESP6500_TAC=9163,3843	GT:AD:DP:GQ:PL	0/1:21,26:47:99:709,0,533
chr3	44593969	rs13319803	G	A	190.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.2;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=21.2;ReadPosRankSum=-0.549;SOR=0.859;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs13319803;dbSNPBuildID=121;ANN=A|intron_variant|MODIFIER|ZNF660|ZNF660|transcript|NM_173658.2|protein_coding|2/2|c.-180-45G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=2661;p3_1000G_AF=0.53135;p3_1000G_AFR_AF=0.2224;p3_1000G_AMR_AF=0.5533;p3_1000G_AN=5008;p3_1000G_DP=19666;p3_1000G_EAS_AF=0.8343;p3_1000G_EUR_AF=0.4254;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44635461;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7301;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:2,7:9:58:219,0,58
chr3	44651072	rs2272044	C	G	431.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.28;ClippingRankSum=0;DP=34;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.39;SOR=0.54;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs2272044;dbSNPBuildID=100;ANN=G|missense_variant|MODERATE|ZNF35|ZNF35|transcript|NM_003420.3|protein_coding|2/4|c.5C>G|p.Thr2Ser|226/2649|5/1584|2/527||,G|downstream_gene_variant|MODIFIER|ZNF197|ZNF197|transcript|NM_001323293.1|protein_coding||c.*6852C>G|||||2601|,G|downstream_gene_variant|MODIFIER|ZNF197|ZNF197|transcript|NR_136582.1|pseudogene||n.*3009C>G|||||3009|,G|downstream_gene_variant|MODIFIER|ZNF197|ZNF197|transcript|NM_001024855.2|protein_coding||c.*4547C>G|||||2601|,G|downstream_gene_variant|MODIFIER|ZNF197|ZNF197|transcript|NM_001323294.1|protein_coding||c.*4547C>G|||||2601|,G|downstream_gene_variant|MODIFIER|ZNF197|ZNF197|transcript|NM_001323295.1|protein_coding||c.*6852C>G|||||2601|,G|downstream_gene_variant|MODIFIER|ZNF197|ZNF197|transcript|NM_001323296.1|protein_coding||c.*6852C>G|||||2601|,G|downstream_gene_variant|MODIFIER|ZNF197|ZNF197|transcript|NM_006991.4|protein_coding||c.*6852C>G|||||2601|;p3_1000G_AA=.|||;p3_1000G_AC=1579;p3_1000G_AF=0.315296;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=19180;p3_1000G_EAS_AF=0.7907;p3_1000G_EUR_AF=0.1402;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44692564;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4335;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=170,4236;ESP6500_AA_AGE=111.6+/-149.8;ESP6500_AA_GTC=4,162,2037;ESP6500_CDS_SIZES=NM_003420.3:1584;ESP6500_CG=4.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=39;ESP6500_EA_AC=1221,7379;ESP6500_EA_AGE=245.0+/-274.0;ESP6500_EA_GTC=94,1033,3173;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003420.3:missense;ESP6500_GL=ZNF35;ESP6500_GRCh38_POSITION=3:44651072;ESP6500_GS=58;ESP6500_GTC=98,1195,5210;ESP6500_GTS=GG,GC,CC;ESP6500_HGVS_CDNA_VAR=NM_003420.3:c.5C>G;ESP6500_HGVS_PROTEIN_VAR=NM_003420.3:p.(T2S);ESP6500_MAF=14.1977,3.8584,10.6951;ESP6500_PH=possibly-damaging:0.779;ESP6500_TAC=1391,11615	GT:AD:DP:GQ:PL	0/1:18,16:34:99:460,0,480
chr3	44721545	rs7640654	A	C	486.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=4.61;ClippingRankSum=0;DP=28;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=0.204;SOR=0.467;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7640654;dbSNPBuildID=116;ANN=C|missense_variant|MODERATE|ZNF502|ZNF502|transcript|NM_001134440.1|protein_coding|4/4|c.728A>C|p.Glu243Ala|983/3269|728/1635|243/544||,C|missense_variant|MODERATE|ZNF502|ZNF502|transcript|NM_001134441.1|protein_coding|3/3|c.728A>C|p.Glu243Ala|889/3175|728/1635|243/544||,C|missense_variant|MODERATE|ZNF502|ZNF502|transcript|NM_001134442.1|protein_coding|3/3|c.728A>C|p.Glu243Ala|885/3171|728/1635|243/544||,C|missense_variant|MODERATE|ZNF502|ZNF502|transcript|NM_001282880.1|protein_coding|5/5|c.728A>C|p.Glu243Ala|1106/3392|728/1635|243/544||,C|missense_variant|MODERATE|ZNF502|ZNF502|transcript|NM_033210.4|protein_coding|4/4|c.728A>C|p.Glu243Ala|987/3273|728/1635|243/544||;p3_1000G_AA=A|||;p3_1000G_AC=2697;p3_1000G_AF=0.538538;p3_1000G_AFR_AF=0.208;p3_1000G_AMR_AF=0.5288;p3_1000G_AN=5008;p3_1000G_DP=22772;p3_1000G_EAS_AF=0.8353;p3_1000G_EUR_AF=0.5219;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44763037;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7035;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1140,3266;ESP6500_AA_AGE=402.4+/-332.3;ESP6500_AA_GTC=164,812,1227;ESP6500_CDS_SIZES=NM_033210.4:1635,NM_001134442.1:1635,NM_001134441.1:1635,NM_001134440.1:1635;ESP6500_CG=3.6;ESP6500_CP=0.5;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=106;ESP6500_EA_AC=4210,4390;ESP6500_EA_AGE=567.0+/-388.8;ESP6500_EA_GTC=1016,2178,1106;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_033210.4:missense,NM_001134442.1:missense,NM_001134441.1:missense,NM_001134440.1:missense;ESP6500_GL=ZNF502;ESP6500_GRCh38_POSITION=3:44721545;ESP6500_GS=107,107,107,107;ESP6500_GTC=1180,2990,2333;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_033210.4:c.728A>C,NM_001134442.1:c.728A>C,NM_001134441.1:c.728A>C,NM_001134440.1:c.728A>C;ESP6500_HGVS_PROTEIN_VAR=NM_033210.4:p.(E243A),NM_001134442.1:p.(E243A),NM_001134441.1:p.(E243A),NM_001134440.1:p.(E243A);ESP6500_MAF=48.9535,25.8738,41.1349;ESP6500_PH=benign:0.034,benign:0.034,benign:0.034,benign:0.034;ESP6500_TAC=5350,7656	GT:AD:DP:GQ:PL	0/1:14,14:28:99:515,0,433
chr3	44734470	rs4682752	A	G	945.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.953;ClippingRankSum=0;DP=53;ExcessHet=3.0103;FS=1.077;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=0.914;SOR=0.869;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs4682752;dbSNPBuildID=111;ANN=G|missense_variant|MODERATE|ZNF501|ZNF501|transcript|NM_001258280.1|protein_coding|3/3|c.49A>G|p.Met17Val|769/3382|49/816|17/271||,G|missense_variant|MODERATE|ZNF501|ZNF501|transcript|NM_145044.3|protein_coding|3/3|c.49A>G|p.Met17Val|476/3089|49/816|17/271||;p3_1000G_AA=A|||;p3_1000G_AC=3482;p3_1000G_AF=0.695288;p3_1000G_AFR_AF=0.6112;p3_1000G_AMR_AF=0.6643;p3_1000G_AN=5008;p3_1000G_DP=21877;p3_1000G_EAS_AF=0.881;p3_1000G_EUR_AF=0.5954;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44775962;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7423;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2638,1528;ESP6500_AA_GTC=844,950,289;ESP6500_CDS_SIZES=NM_145044.3:816,NM_001258280.1:816;ESP6500_CG=2.4;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=97;ESP6500_EA_AC=4720,3776;ESP6500_EA_GTC=1303,2114,831;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_145044.3:missense,NM_001258280.1:missense;ESP6500_GL=ZNF501;ESP6500_GRCh38_POSITION=3:44734470;ESP6500_GS=21,21;ESP6500_GTC=2147,3064,1120;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_145044.3:c.49A>G,NM_001258280.1:c.49A>G;ESP6500_HGVS_PROTEIN_VAR=NM_145044.3:p.(M17V),NM_001258280.1:p.(M17V);ESP6500_MAF=44.4444,36.6779,41.8891;ESP6500_PH=benign:0.0,benign:0.0;ESP6500_TAC=7358,5304	GT:AD:DP:GQ:PL	0/1:18,35:53:99:974,0,401
chr3	44761616	rs3082548;rs398062292;rs56236286;rs747949082;rs758163712;rs778098218;rs778777773	AAAGACAG	A	826.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.519;ClippingRankSum=0;DP=61;ExcessHet=3.0103;FS=1.037;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.067;SOR=0.963;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs56236286,rs3082548;dbSNPBuildID=135,102,144,144,144,144,138;ANN=A|5_prime_UTR_variant|MODIFIER|KIAA1143|KIAA1143|transcript|NM_020696.3|protein_coding|1/3|c.-21_-15delCTGTCTT|||||15|,A|5_prime_UTR_variant|MODIFIER|KIAA1143|KIAA1143|transcript|NM_001320334.1|protein_coding|1/3|c.-21_-15delCTGTCTT|||||15|,A|upstream_gene_variant|MODIFIER|KIF15|KIF15|transcript|NM_020242.2|protein_coding||c.-249_-243delAAGACAG|||||100|;p3_1000G_AC=3566;p3_1000G_AF=0.712061;p3_1000G_AFR_AF=0.6717;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=15437;p3_1000G_EAS_AF=0.88;p3_1000G_EUR_AF=0.5944;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44803108;p3_1000G_GRCH37_REF=AAAGACAG;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7434;p3_1000G_VT=INDEL;ESP6500_AA_AC=2590,1614;ESP6500_AA_GTC=860,870,372;ESP6500_CDS_SIZES=NM_020696.3:465;ESP6500_CG=-1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=23;ESP6500_EA_AC=4165,3957;ESP6500_EA_GTC=1132,1901,1028;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020696.3:utr-5;ESP6500_GL=KIAA1143;ESP6500_GRCh38_POSITION=3:44761616;ESP6500_GTC=1992,2771,1400;ESP6500_GTS=A1A1,A1R,RR;ESP6500_HGVS_CDNA_VAR=NM_020696.3:c.-21_-15del7;ESP6500_MAF=48.7195,38.392,45.1971;ESP6500_TAC=6755,5571	GT:AD:DP:GQ:PL	0/1:34,23:57:99:864,0,2837
chr3	44775460	rs10574346;rs553547998	CTT	C	87.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.37;ClippingRankSum=0;DP=9;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.431;SOR=0.223;DEL;HET;VARTYPE=DEL;dbSNP138_ID=rs10574346;dbSNPBuildID=132,142;ANN=C|intron_variant|MODIFIER|KIF15|KIF15|transcript|NM_020242.2|protein_coding|3/34|c.246+36_246+37delTT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:3,4:7:60:125,0,60
chr3	44784823	rs397952260;rs398082071;rs56895721	G	GT	83.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=0.227;ClippingRankSum=0;DP=16;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.598;SOR=0.883;INS;HET;VARTYPE=INS;dbSNP138_ID=rs56895721;dbSNPBuildID=137,138,138;ANN=GT|intron_variant|MODIFIER|KIF15|KIF15|transcript|NM_020242.2|protein_coding|5/34|c.362-12dupT||||||INFO_REALIGN_3_PRIME	GT:AD:DP:GQ:PL	0/1:10,6:16:99:121,0,234
chr3	44786301	rs7642843	T	C	186.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.27;ClippingRankSum=0;DP=12;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=0;SOR=0.693;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs7642843;dbSNPBuildID=116;ANN=C|intron_variant|MODIFIER|KIF15|KIF15|transcript|NM_020242.2|protein_coding|6/34|c.460-94T>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=3477;p3_1000G_AF=0.694289;p3_1000G_AFR_AF=0.6165;p3_1000G_AMR_AF=0.6715;p3_1000G_AN=5008;p3_1000G_DP=19800;p3_1000G_EAS_AF=0.871;p3_1000G_EUR_AF=0.5865;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44827793;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7444;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:6,6:12:99:215,0,161
chr3	44813071	rs3762636	A	G	203.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.17;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=4.561;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.455;SOR=0.148;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3762636;dbSNPBuildID=107;ANN=G|splice_region_variant&intron_variant|LOW|KIF15|KIF15|transcript|NM_020242.2|protein_coding|18/34|c.2278-4A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=2709;p3_1000G_AF=0.540935;p3_1000G_AFR_AF=0.2027;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=18251;p3_1000G_EAS_AF=0.8512;p3_1000G_EUR_AF=0.5169;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44854563;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=1111,3295;ESP6500_AA_AGE=394.9+/-329.4;ESP6500_AA_GTC=158,795,1250;ESP6500_CDS_SIZES=NM_020242.2:4167;ESP6500_CG=-3.4;ESP6500_CP=0.8;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=4169,4431;ESP6500_EA_AGE=565.4+/-388.5;ESP6500_EA_GTC=993,2183,1124;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020242.2:intron;ESP6500_GL=KIF15;ESP6500_GRCh38_POSITION=3:44813071;ESP6500_GTC=1151,2978,2374;ESP6500_GTS=GG,GA,AA;ESP6500_HGVS_CDNA_VAR=NM_020242.2:c.2278-4A>G;ESP6500_MAF=48.4767,25.2156,40.5966;ESP6500_TAC=5280,7726	GT:AD:DP:GQ:PL	0/1:10,9:19:99:232,0,256
chr3	44827534	rs4682999	A	T	217.8	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=7;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.11;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4682999;dbSNPBuildID=111;ANN=T|splice_region_variant&intron_variant|LOW|KIF15|KIF15|transcript|NM_020242.2|protein_coding|23/34|c.2856+6A>T||||||;p3_1000G_AA=T|||;p3_1000G_AC=4996;p3_1000G_AF=0.997604;p3_1000G_AFR_AF=0.9924;p3_1000G_AMR_AF=0.9971;p3_1000G_AN=5008;p3_1000G_DP=15510;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=1;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44869026;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=4341,65;ESP6500_AA_AGE=61.1+/-98.1;ESP6500_AA_GTC=2138,65,0;ESP6500_CDS_SIZES=NM_020242.2:4167;ESP6500_CG=0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_111;ESP6500_DP=51;ESP6500_EA_AC=8600,0;ESP6500_EA_GTC=4300,0,0;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_020242.2:intron;ESP6500_GL=KIF15;ESP6500_GRCh38_POSITION=3:44827534;ESP6500_GTC=6438,65,0;ESP6500_GTS=TT,TA,AA;ESP6500_HGVS_CDNA_VAR=NM_020242.2:c.2856+6A>T;ESP6500_MAF=0.0,1.4753,0.4998;ESP6500_TAC=12941,65	GT:AD:DP:GQ:PL	1/1:0,7:7:21:246,21,0
chr3	44827546	rs187860941	C	T	166.79	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.465;ClippingRankSum=0;DP=7;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.83;ReadPosRankSum=1.47;SOR=1.179;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs187860941;dbSNPBuildID=135;ANN=T|intron_variant|MODIFIER|KIF15|KIF15|transcript|NM_020242.2|protein_coding|23/34|c.2856+18C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=6;p3_1000G_AF=0.00119808;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=15258;p3_1000G_EAS_AF=0.006;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44869038;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:1,6:7:22:195,0,22
chr3	44843155	rs3804583	C	A	134.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-0.373;ClippingRankSum=0;DP=19;ExcessHet=3.0103;FS=1.871;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.09;ReadPosRankSum=0.621;SOR=1.093;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs3804583;dbSNPBuildID=107;ANN=A|missense_variant|MODERATE|KIF15|KIF15|transcript|NM_020242.2|protein_coding|30/35|c.3616C>A|p.Leu1206Met|3765/4837|3616/4167|1206/1388||;p3_1000G_AA=C|||;p3_1000G_AC=2643;p3_1000G_AF=0.527756;p3_1000G_AFR_AF=0.1573;p3_1000G_AMR_AF=0.5303;p3_1000G_AN=5008;p3_1000G_DP=19620;p3_1000G_EAS_AF=0.8492;p3_1000G_EUR_AF=0.5159;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44884647;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7076;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=938,3468;ESP6500_AA_AGE=356.1+/-313.4;ESP6500_AA_GTC=114,710,1379;ESP6500_CDS_SIZES=NM_020242.2:4167;ESP6500_CG=3.5;ESP6500_CP=0.9;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=88;ESP6500_EA_AC=4161,4439;ESP6500_EA_AGE=565.0+/-388.4;ESP6500_EA_GTC=986,2189,1125;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_020242.2:missense;ESP6500_GL=KIF15;ESP6500_GRCh38_POSITION=3:44843155;ESP6500_GS=15;ESP6500_GTC=1100,2899,2504;ESP6500_GTS=AA,AC,CC;ESP6500_HGVS_CDNA_VAR=NM_020242.2:c.3616C>A;ESP6500_HGVS_PROTEIN_VAR=NM_020242.2:p.(L1206M);ESP6500_MAF=48.3837,21.2892,39.205;ESP6500_PH=benign:0.053;ESP6500_TAC=5099,7907	GT:AD:DP:GQ:PL	0/1:11,8:19:99:163,0,265
chr3	44865254	rs10429	A	G	798.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=21;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=20.29;SOR=4.712;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs10429;dbSNPBuildID=52;ANN=G|3_prime_UTR_variant|MODIFIER|TMEM42|TMEM42|transcript|NM_144638.2|protein_coding|3/3|c.*74A>G|||||74|,G|downstream_gene_variant|MODIFIER|MIR564|MIR564|transcript|NR_030290.1|pseudogene||n.*3273A>G|||||3273|;p3_1000G_AA=G|||;p3_1000G_AC=4133;p3_1000G_AF=0.82528;p3_1000G_AFR_AF=0.711;p3_1000G_AMR_AF=0.8487;p3_1000G_AN=5008;p3_1000G_DP=20653;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.6879;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44906746;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.9243;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,21:21:63:827,63,0
chr3	44887706	rs562192951	G	A	801.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-1.039;ClippingRankSum=0;DP=55;ExcessHet=3.0103;FS=1.12;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-0.42;SOR=0.976;SNP;HET;VARTYPE=SNP;dbSNPBuildID=142;ANN=A|missense_variant|MODERATE|TGM4|TGM4|transcript|NM_003241.3|protein_coding|3/14|c.211G>A|p.Ala71Thr|284/2999|211/2055|71/684||;p3_1000G_AA=G|||;p3_1000G_AC=3;p3_1000G_AF=0.000599042;p3_1000G_AFR_AF=0;p3_1000G_AMR_AF=0;p3_1000G_AN=5008;p3_1000G_DP=17559;p3_1000G_EAS_AF=0.003;p3_1000G_EUR_AF=0;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44929198;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	0/1:21,34:55:99:830,0,475
chr3	44887795	rs2271087	G	C	1681.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=56;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.03;SOR=0.765;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2271087;dbSNPBuildID=100;ANN=C|missense_variant&splice_region_variant|MODERATE|TGM4|TGM4|transcript|NM_003241.3|protein_coding|3/14|c.300G>C|p.Glu100Asp|373/2999|300/2055|100/684||;p3_1000G_AA=G|||;p3_1000G_AC=2139;p3_1000G_AF=0.427117;p3_1000G_AFR_AF=0.1566;p3_1000G_AMR_AF=0.4251;p3_1000G_AN=5008;p3_1000G_DP=17450;p3_1000G_EAS_AF=0.8165;p3_1000G_EUR_AF=0.2873;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44929287;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.5368;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=777,3629;ESP6500_AA_AGE=312.2+/-292.5;ESP6500_AA_GTC=60,657,1486;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=1.4;ESP6500_CP=0.1;ESP6500_DBSNP=dbSNP_100;ESP6500_DP=60;ESP6500_EA_AC=2531,6069;ESP6500_EA_AGE=411.5+/-350.5;ESP6500_EA_GTC=361,1809,2130;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003241.3:missense-near-splice;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44887795;ESP6500_GS=45;ESP6500_GTC=421,2466,3616;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.300G>C;ESP6500_HGVS_PROTEIN_VAR=NM_003241.3:p.(E100D);ESP6500_MAF=29.4302,17.635,25.4344;ESP6500_PH=possibly-damaging:0.912;ESP6500_TAC=3308,9698	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1710,168,0
chr3	44890778	rs937837	C	T	1506.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=49;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.75;SOR=1.755;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs937837;dbSNPBuildID=86;ANN=T|intron_variant|MODIFIER|TGM4|TGM4|transcript|NM_003241.3|protein_coding|4/13|c.430+46C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1698;p3_1000G_AF=0.339058;p3_1000G_AFR_AF=0.0076;p3_1000G_AMR_AF=0.2968;p3_1000G_AN=5008;p3_1000G_DP=22342;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.2207;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44932270;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4755;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=233,4173;ESP6500_AA_AGE=138.0+/-173.8;ESP6500_AA_GTC=8,217,1978;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=0.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_86;ESP6500_DP=59;ESP6500_EA_AC=1914,6686;ESP6500_EA_AGE=338.9+/-322.9;ESP6500_EA_GTC=193,1528,2579;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003241.3:intron;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44890778;ESP6500_GTC=201,1745,4557;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.430+46C>T;ESP6500_MAF=22.2558,5.2882,16.5078;ESP6500_TAC=2147,10859	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1535,147,0
chr3	44893527	rs62242575	C	T	1082.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=33;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.81;SOR=2.235;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs62242575;dbSNPBuildID=129;ANN=T|intron_variant|MODIFIER|TGM4|TGM4|transcript|NM_003241.3|protein_coding|4/13|c.431-50C>T||||||;p3_1000G_AA=C|||;p3_1000G_AC=1695;p3_1000G_AF=0.338458;p3_1000G_AFR_AF=0.0083;p3_1000G_AMR_AF=0.2983;p3_1000G_AN=5008;p3_1000G_DP=18433;p3_1000G_EAS_AF=0.7887;p3_1000G_EUR_AF=0.2256;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44935019;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.4652;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=230,4176;ESP6500_AA_AGE=136.5+/-172.5;ESP6500_AA_GTC=8,214,1981;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=-3.3;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_129;ESP6500_DP=57;ESP6500_EA_AC=1914,6686;ESP6500_EA_AGE=337.2+/-322.2;ESP6500_EA_GTC=194,1526,2580;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003241.3:intron;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44893527;ESP6500_GTC=202,1740,4561;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.431-50C>T;ESP6500_MAF=22.2558,5.2202,16.4847;ESP6500_TAC=2144,10862	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1111,99,0
chr3	44901577	rs1995640	C	T	1007.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=31;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=32.51;SOR=2.694;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1995640;dbSNPBuildID=92;ANN=T|synonymous_variant|LOW|TGM4|TGM4|transcript|NM_003241.3|protein_coding|7/14|c.711C>T|p.Tyr237Tyr|784/2999|711/2055|237/684||;p3_1000G_AA=C|||;p3_1000G_AC=2841;p3_1000G_AF=0.567292;p3_1000G_AFR_AF=0.5174;p3_1000G_AMR_AF=0.5086;p3_1000G_AN=5008;p3_1000G_DP=21170;p3_1000G_EAS_AF=0.8006;p3_1000G_EUR_AF=0.4026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44943069;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6053;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2200,2206;ESP6500_AA_AGE=585.0+/-386.2;ESP6500_AA_GTC=526,1148,529;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=1.8;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=90;ESP6500_EA_AC=3595,5005;ESP6500_EA_AGE=516.2+/-378.8;ESP6500_EA_GTC=741,2113,1446;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003241.3:coding-synonymous;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44901577;ESP6500_GTC=1267,3261,1975;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.711C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003241.3:p.(Y237);ESP6500_MAF=41.8023,49.9319,44.5564;ESP6500_TAC=5795,7211	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1036,93,0
chr3	44901897	rs1995641	G	A	1696.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=54;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.42;SOR=1.022;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1995641;dbSNPBuildID=92;ANN=A|missense_variant|MODERATE|TGM4|TGM4|transcript|NM_003241.3|protein_coding|8/14|c.937G>A|p.Glu313Lys|1010/2999|937/2055|313/684||;p3_1000G_AA=G|||;p3_1000G_AC=2780;p3_1000G_AF=0.555112;p3_1000G_AFR_AF=0.475;p3_1000G_AMR_AF=0.5072;p3_1000G_AN=5008;p3_1000G_DP=20918;p3_1000G_EAS_AF=0.7996;p3_1000G_EUR_AF=0.4026;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44943389;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6022;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2047,2359;ESP6500_AA_AGE=567.1+/-382.1;ESP6500_AA_GTC=459,1129,615;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=-3.6;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_92;ESP6500_DP=126;ESP6500_EA_AC=3584,5016;ESP6500_EA_AGE=518.5+/-379.3;ESP6500_EA_GTC=737,2110,1453;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003241.3:missense;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44901897;ESP6500_GS=56;ESP6500_GTC=1196,3239,2068;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.937G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003241.3:p.(E313K);ESP6500_MAF=41.6744,46.4594,43.2954;ESP6500_PH=possibly-damaging:0.582;ESP6500_TAC=5631,7375	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,54:54:99:1|1:44901897_G_A:1725,162,0
chr3	44906987	rs3749195	C	T	1267.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=38;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.36;SOR=1.493;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3749195;dbSNPBuildID=107;ANN=T|missense_variant|MODERATE|TGM4|TGM4|transcript|NM_003241.3|protein_coding|10/14|c.1114C>T|p.Arg372Cys|1187/2999|1114/2055|372/684||;p3_1000G_AA=C|||;p3_1000G_AC=3378;p3_1000G_AF=0.674521;p3_1000G_AFR_AF=0.671;p3_1000G_AMR_AF=0.5807;p3_1000G_AN=5008;p3_1000G_DP=18727;p3_1000G_EAS_AF=0.8869;p3_1000G_EUR_AF=0.4463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44948479;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7618;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2848,1558;ESP6500_AA_AGE=670.1+/-402.3;ESP6500_AA_GTC=915,1018,270;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=2.0;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=102;ESP6500_EA_AC=4076,4524;ESP6500_EA_AGE=559.7+/-387.5;ESP6500_EA_GTC=947,2182,1171;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003241.3:missense;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44906987;ESP6500_GS=180;ESP6500_GTC=1862,3200,1441;ESP6500_GTS=TT,TC,CC;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.1114C>T;ESP6500_HGVS_PROTEIN_VAR=NM_003241.3:p.(R372C);ESP6500_MAF=47.3953,35.3609,46.763;ESP6500_PH=probably-damaging:0.98;ESP6500_TAC=6924,6082	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1296,114,0
chr3	44907098	rs9876921	G	A	1962.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=66;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.74;SOR=0.754;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9876921;dbSNPBuildID=119;ANN=A|missense_variant|MODERATE|TGM4|TGM4|transcript|NM_003241.3|protein_coding|10/14|c.1225G>A|p.Val409Ile|1298/2999|1225/2055|409/684||;p3_1000G_AA=G|||;p3_1000G_AC=3102;p3_1000G_AF=0.619409;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=19381;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.4463;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44948590;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7566;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=2047,2359;ESP6500_AA_AGE=567.7+/-382.2;ESP6500_AA_GTC=489,1069,645;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=-4.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=152;ESP6500_EA_AC=4066,4534;ESP6500_EA_AGE=558.9+/-387.3;ESP6500_EA_GTC=943,2180,1177;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003241.3:missense;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44907098;ESP6500_GS=29;ESP6500_GTC=1432,3249,1822;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.1225G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003241.3:p.(V409I);ESP6500_MAF=47.2791,46.4594,47.0014;ESP6500_PH=benign:0.002;ESP6500_TAC=6113,6893	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1991,198,0
chr3	44907278	rs4622937	G	A	443.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=13;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.14;SOR=5.283;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs4622937;dbSNPBuildID=111;ANN=A|intron_variant|MODIFIER|TGM4|TGM4|transcript|NM_003241.3|protein_coding|10/13|c.1327+78G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3103;p3_1000G_AF=0.619609;p3_1000G_AFR_AF=0.4743;p3_1000G_AMR_AF=0.5677;p3_1000G_AN=5008;p3_1000G_DP=14187;p3_1000G_EAS_AF=0.8849;p3_1000G_EUR_AF=0.4463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44948770;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7577;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,13:13:39:472,39,0
chr3	44910915	rs1520082	G	C	787.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=26.13;SOR=2.737;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs1520082;dbSNPBuildID=88;ANN=C|downstream_gene_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_016598.2|protein_coding||c.*15774C>G|||||4346|,C|downstream_gene_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_001135179.1|protein_coding||c.*15774C>G|||||4346|,C|intron_variant|MODIFIER|TGM4|TGM4|transcript|NM_003241.3|protein_coding|11/13|c.1607-43G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3435;p3_1000G_AF=0.685903;p3_1000G_AFR_AF=0.6952;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=19971;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.4463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44952407;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2862,1544;ESP6500_AA_AGE=449.0+/-348.9;ESP6500_AA_GTC=934,994,275;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=-0.5;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_88;ESP6500_DP=49;ESP6500_EA_AC=4043,4557;ESP6500_EA_AGE=567.5+/-388.9;ESP6500_EA_GTC=947,2149,1204;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003241.3:intron;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44910915;ESP6500_GTC=1881,3143,1479;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.1607-43G>C;ESP6500_MAF=47.0116,35.0431,46.9091;ESP6500_TAC=6905,6101	GT:AD:DP:GQ:PL	1/1:0,22:22:66:816,66,0
chr3	44911450	rs6777798	A	C	764.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=22;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.76;SOR=1.609;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6777798;dbSNPBuildID=116;ANN=C|downstream_gene_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_016598.2|protein_coding||c.*15239T>G|||||3811|,C|downstream_gene_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_001135179.1|protein_coding||c.*15239T>G|||||3811|,C|intron_variant|MODIFIER|TGM4|TGM4|transcript|NM_003241.3|protein_coding|13/13|c.1913+44A>C||||||;p3_1000G_AA=A|||;p3_1000G_AC=3441;p3_1000G_AF=0.687101;p3_1000G_AFR_AF=0.6997;p3_1000G_AMR_AF=0.5836;p3_1000G_AN=5008;p3_1000G_DP=20566;p3_1000G_EAS_AF=0.9067;p3_1000G_EUR_AF=0.4463;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=44952942;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7648;p3_1000G_VT=SNP;ESP6500_AA=A;ESP6500_AA_AC=2891,1515;ESP6500_AA_AGE=652.5+/-399.4;ESP6500_AA_GTC=948,995,260;ESP6500_CDS_SIZES=NM_003241.3:2055;ESP6500_CG=-1.2;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_116;ESP6500_DP=38;ESP6500_EA_AC=4083,4517;ESP6500_EA_AGE=549.6+/-385.6;ESP6500_EA_GTC=950,2183,1167;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003241.3:intron;ESP6500_GL=TGM4;ESP6500_GRCh38_POSITION=3:44911450;ESP6500_GTC=1898,3178,1427;ESP6500_GTS=CC,CA,AA;ESP6500_HGVS_CDNA_VAR=NM_003241.3:c.1913+44A>C;ESP6500_MAF=47.4767,34.3849,46.3786;ESP6500_TAC=6974,6032	GT:AD:DP:GQ:PL	1/1:0,22:22:66:793,66,0
chr3	44933300	rs1195598268	T	C	478.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.3;ClippingRankSum=0;DP=35;ExcessHet=3.0103;FS=0;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.38;SOR=0.922;SNP;HET;VARTYPE=SNP;dbSNPBuildID=151;ANN=C|intron_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_016598.2|protein_coding|4/7|c.529-101A>G||||||,C|intron_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_001135179.1|protein_coding|4/6|c.529-101A>G||||||	GT:AD:DP:GQ:PL	0/1:19,16:35:99:507,0,472
chr3	44976412	rs6441873	A	T	691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.96;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6441873;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_016598.2|protein_coding||c.-16976T>A|||||230|,T|upstream_gene_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_001135179.1|protein_coding||c.-16976T>A|||||230|,T|intron_variant|MODIFIER|EXOSC7|EXOSC7|transcript|NM_015004.3|protein_coding|1/7|c.57+78A>T||||||,T|intron_variant|MODIFIER|EXOSC7|EXOSC7|transcript|NR_023353.1|pseudogene|1/6|n.86+78A>T||||||;p3_1000G_AA=A|||;p3_1000G_AC=2950;p3_1000G_AF=0.589058;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=11222;p3_1000G_EAS_AF=0.8581;p3_1000G_EUR_AF=0.4016;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45017904;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6994;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:44976412_A_T:720,48,0
chr3	44976413	rs6441874	G	T	691.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=16;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.87;SOR=1.244;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6441874;dbSNPBuildID=116;ANN=T|upstream_gene_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_016598.2|protein_coding||c.-16977C>A|||||231|,T|upstream_gene_variant|MODIFIER|ZDHHC3|ZDHHC3|transcript|NM_001135179.1|protein_coding||c.-16977C>A|||||231|,T|intron_variant|MODIFIER|EXOSC7|EXOSC7|transcript|NM_015004.3|protein_coding|1/7|c.57+79G>T||||||,T|intron_variant|MODIFIER|EXOSC7|EXOSC7|transcript|NR_023353.1|pseudogene|1/6|n.86+79G>T||||||;p3_1000G_AA=G|||;p3_1000G_AC=2951;p3_1000G_AF=0.589257;p3_1000G_AFR_AF=0.4796;p3_1000G_AMR_AF=0.5231;p3_1000G_AN=5008;p3_1000G_DP=11089;p3_1000G_EAS_AF=0.8581;p3_1000G_EUR_AF=0.4016;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45017905;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7004;p3_1000G_VT=SNP	GT:AD:DP:GQ:PGT:PID:PL	1/1:0,16:16:48:1|1:44976412_A_T:720,48,0
chr3	45011283	rs6794	G	C	887.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=30;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.59;SOR=0.976;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs6794;dbSNPBuildID=52;ANN=C|missense_variant|MODERATE|EXOSC7|EXOSC7|transcript|NM_015004.3|protein_coding|8/8|c.820G>C|p.Val274Leu|849/1036|820/876|274/291||,C|non_coding_transcript_exon_variant|MODIFIER|EXOSC7|EXOSC7|transcript|NR_023353.1|pseudogene|6/7|n.652G>C||||||;p3_1000G_AA=C|||;p3_1000G_AC=3535;p3_1000G_AF=0.705871;p3_1000G_AFR_AF=0.7269;p3_1000G_AMR_AF=0.6239;p3_1000G_AN=5008;p3_1000G_DP=17322;p3_1000G_EAS_AF=0.9008;p3_1000G_EUR_AF=0.4841;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45052775;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7628;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2989,1417;ESP6500_AA_AGE=462.4+/-353.2;ESP6500_AA_GTC=1008,973,222;ESP6500_CDS_SIZES=NM_015004.3:876;ESP6500_CG=2.9;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=79;ESP6500_EA_AC=4411,4189;ESP6500_EA_AGE=568.3+/-389.0;ESP6500_EA_GTC=1124,2163,1013;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_015004.3:missense;ESP6500_GL=EXOSC7;ESP6500_GRCh38_POSITION=3:45011283;ESP6500_GS=32;ESP6500_GTC=2132,3136,1235;ESP6500_GTS=CC,CG,GG;ESP6500_HGVS_CDNA_VAR=NM_015004.3:c.820G>C;ESP6500_HGVS_PROTEIN_VAR=NM_015004.3:p.(V274L);ESP6500_MAF=48.7093,32.1607,43.1032;ESP6500_PH=benign:0.0;ESP6500_TAC=7400,5606	GT:AD:DP:GQ:PL	1/1:0,30:30:90:916,90,0
chr3	45026582	rs2301282	A	G	404.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=11;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=31.95;SOR=3.442;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2301282;dbSNPBuildID=100;ANN=G|upstream_gene_variant|MODIFIER|CLEC3B|CLEC3B|transcript|NM_001308394.1|protein_coding||c.-4262A>G|||||3548|,G|intron_variant|MODIFIER|CLEC3B|CLEC3B|transcript|NM_003278.2|protein_coding|1/2|c.109+111A>G||||||;p3_1000G_AA=A|||;p3_1000G_AC=3038;p3_1000G_AF=0.606629;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.5346;p3_1000G_AN=5008;p3_1000G_DP=18729;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45068074;p3_1000G_GRCH37_REF=A;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7035;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,11:11:33:433,33,0
chr3	45031043	rs2139538	G	A	209.84	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=6;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.97;SOR=3.912;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2139538;dbSNPBuildID=96;ANN=A|sequence_feature|LOW|CLEC3B|CLEC3B|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_003278.2|protein_coding|2/2|c.208+118G>A||||||,A|intron_variant|MODIFIER|CLEC3B|CLEC3B|transcript|NM_003278.2|protein_coding|2/2|c.208+118G>A||||||,A|intron_variant|MODIFIER|CLEC3B|CLEC3B|transcript|NM_001308394.1|protein_coding|2/2|c.82+118G>A||||||;p3_1000G_AA=G|||;p3_1000G_AC=3039;p3_1000G_AF=0.606829;p3_1000G_AFR_AF=0.5416;p3_1000G_AMR_AF=0.536;p3_1000G_AN=5008;p3_1000G_DP=19222;p3_1000G_EAS_AF=0.8601;p3_1000G_EUR_AF=0.3936;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45072535;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7035;p3_1000G_VT=SNP	GT:AD:DP:GQ:PL	1/1:0,6:6:18:238,18,0
chr3	45035430	.	T	C	157.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=3.44;ClippingRankSum=0;DP=20;ExcessHet=3.0103;FS=2.128;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=-0.199;SOR=1.445;SNP;HET;VARTYPE=SNP;ANN=C|sequence_feature|LOW|CLEC3B|CLEC3B|beta-strand:combinatorial_evidence_used_in_manual_assertion|NM_003278.2|protein_coding|2/2|c.209-94T>C||||||,C|intron_variant|MODIFIER|CLEC3B|CLEC3B|transcript|NM_003278.2|protein_coding|2/2|c.209-94T>C||||||,C|intron_variant|MODIFIER|CLEC3B|CLEC3B|transcript|NM_001308394.1|protein_coding|2/2|c.83-94T>C||||||	GT:AD:DP:GQ:PL	0/1:14,6:20:99:186,0,338
chr3	45035631	rs13963	G	A	2639.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=79;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.41;SOR=1.281;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs13963;dbSNPBuildID=52;ANN=A|missense_variant|MODERATE|CLEC3B|CLEC3B|transcript|NM_003278.2|protein_coding|3/3|c.316G>A|p.Gly106Ser|412/852|316/609|106/202||,A|missense_variant|MODERATE|CLEC3B|CLEC3B|transcript|NM_001308394.1|protein_coding|3/3|c.190G>A|p.Gly64Ser|315/757|190/483|64/160||;p3_1000G_AA=G|||;p3_1000G_AC=2822;p3_1000G_AF=0.563498;p3_1000G_AFR_AF=0.4002;p3_1000G_AMR_AF=0.5144;p3_1000G_AN=5008;p3_1000G_DP=15918;p3_1000G_EAS_AF=0.8591;p3_1000G_EUR_AF=0.3817;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45077123;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7014;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1708,2698;ESP6500_AA_AGE=511.2+/-367.7;ESP6500_AA_GTC=331,1046,826;ESP6500_CDS_SIZES=NM_003278.2:609;ESP6500_CG=-0.1;ESP6500_CP=1.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=46;ESP6500_EA_AC=3484,5116;ESP6500_EA_AGE=508.9+/-377.2;ESP6500_EA_GTC=690,2104,1506;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_003278.2:missense;ESP6500_GL=CLEC3B;ESP6500_GRCh38_POSITION=3:45035631;ESP6500_GS=56;ESP6500_GTC=1021,3150,2332;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003278.2:c.316G>A;ESP6500_HGVS_PROTEIN_VAR=NM_003278.2:p.(G106S);ESP6500_MAF=40.5116,38.7653,39.92;ESP6500_PH=benign:0.099;ESP6500_TAC=5192,7814	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2668,237,0
chr3	45035966	rs8318	G	A	348.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=10;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=34.88;SOR=3.258;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs8318;dbSNPBuildID=52;ANN=A|3_prime_UTR_variant|MODIFIER|CLEC3B|CLEC3B|transcript|NM_003278.2|protein_coding|3/3|c.*42G>A|||||42|,A|3_prime_UTR_variant|MODIFIER|CLEC3B|CLEC3B|transcript|NM_001308394.1|protein_coding|3/3|c.*42G>A|||||42|;p3_1000G_AA=G|||;p3_1000G_AC=2974;p3_1000G_AF=0.59385;p3_1000G_AFR_AF=0.5008;p3_1000G_AMR_AF=0.5173;p3_1000G_AN=5008;p3_1000G_DP=10588;p3_1000G_EAS_AF=0.8681;p3_1000G_EUR_AF=0.3807;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45077458;p3_1000G_GRCH37_REF=G;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7106;p3_1000G_VT=SNP;ESP6500_AA=G;ESP6500_AA_AC=1118,1586;ESP6500_AA_GTC=255,608,489;ESP6500_CDS_SIZES=NM_003278.2:609;ESP6500_CG=-1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_52;ESP6500_DP=4;ESP6500_EA_AC=2057,3551;ESP6500_EA_GTC=424,1209,1171;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_003278.2:utr-3;ESP6500_GL=CLEC3B;ESP6500_GRCh38_POSITION=3:45035966;ESP6500_GTC=679,1817,1660;ESP6500_GTS=AA,AG,GG;ESP6500_HGVS_CDNA_VAR=NM_003278.2:c.*42G>A;ESP6500_MAF=36.6797,41.3462,38.1978;ESP6500_TAC=3175,5137	GT:AD:DP:GQ:PL	1/1:0,10:10:30:377,30,0
chr3	45086023	rs9874077	T	C	844.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=23;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=30.91;SOR=1.708;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs9874077;dbSNPBuildID=119;ANN=C|missense_variant|MODERATE|CDCP1|CDCP1|transcript|NM_022842.4|protein_coding|9/9|c.2126A>G|p.Asp709Gly|2261/6010|2126/2511|709/836||;p3_1000G_AA=C|||;p3_1000G_AC=4654;p3_1000G_AF=0.929313;p3_1000G_AFR_AF=0.7489;p3_1000G_AMR_AF=0.9741;p3_1000G_AN=5008;p3_1000G_DP=19315;p3_1000G_EAS_AF=1;p3_1000G_EUR_AF=0.996;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45127515;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=1;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=3480,926;ESP6500_AA_AGE=354.6+/-312.7;ESP6500_AA_GTC=1367,746,90;ESP6500_CDS_SIZES=NM_022842.3:2511;ESP6500_CG=5.8;ESP6500_CP=0.2;ESP6500_DBSNP=dbSNP_119;ESP6500_DP=180;ESP6500_EA_AC=8584,16;ESP6500_EA_AGE=12.6+/-44.7;ESP6500_EA_GTC=4284,16,0;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022842.3:missense;ESP6500_GL=CDCP1;ESP6500_GRCh38_POSITION=3:45086023;ESP6500_GS=94;ESP6500_GTC=5651,762,90;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022842.3:c.2126A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022842.3:p.(D709G);ESP6500_MAF=0.186,21.0168,7.2428;ESP6500_PH=benign:0.0;ESP6500_TAC=12064,942	GT:AD:DP:GQ:PL	1/1:0,23:23:69:873,69,0
chr3	45093330	rs3749191	T	C	1545.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=46;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=33.6;SOR=1.931;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs3749191;dbSNPBuildID=107;ANN=C|missense_variant|MODERATE|CDCP1|CDCP1|transcript|NM_022842.4|protein_coding|6/9|c.1574A>G|p.Gln525Arg|1709/6010|1574/2511|525/836||;p3_1000G_AA=C|||;p3_1000G_AC=3666;p3_1000G_AF=0.732029;p3_1000G_AFR_AF=0.5499;p3_1000G_AMR_AF=0.7594;p3_1000G_AN=5008;p3_1000G_DP=20103;p3_1000G_EAS_AF=0.9554;p3_1000G_EUR_AF=0.6292;p3_1000G_EX_TARGET;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45134822;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.8344;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2501,1905;ESP6500_AA_AGE=544.8+/-376.6;ESP6500_AA_GTC=715,1071,417;ESP6500_CDS_SIZES=NM_022842.3:2511;ESP6500_CG=-1.1;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_107;ESP6500_DP=74;ESP6500_EA_AC=5510,3090;ESP6500_EA_AGE=471.8+/-368.2;ESP6500_EA_GTC=1780,1950,570;ESP6500_EXOME_CHIP=yes;ESP6500_FG=NM_022842.3:missense;ESP6500_GL=CDCP1;ESP6500_GRCh38_POSITION=3:45093330;ESP6500_GS=43;ESP6500_GTC=2495,3021,987;ESP6500_GTS=CC,CT,TT;ESP6500_HGVS_CDNA_VAR=NM_022842.3:c.1574A>G;ESP6500_HGVS_PROTEIN_VAR=NM_022842.3:p.(Q525R);ESP6500_MAF=35.9302,43.2365,38.4054;ESP6500_PH=benign:0.0;ESP6500_TAC=8011,4995	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1574,138,0
chr3	45095595	rs2037358	T	G	939.77	PASS	AC=2;SAMPLES_AF=1;AN=2;DP=25;ExcessHet=3.0103;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=29.89;SOR=5.058;SNP;HOM;VARTYPE=SNP;dbSNP138_ID=rs2037358;dbSNPBuildID=94;ANN=G|intron_variant|MODIFIER|CDCP1|CDCP1|transcript|NM_022842.4|protein_coding|4/8|c.1025-27A>C||||||;p3_1000G_AA=T|||;p3_1000G_AC=2544;p3_1000G_AF=0.507987;p3_1000G_AFR_AF=0.1293;p3_1000G_AMR_AF=0.6484;p3_1000G_AN=5008;p3_1000G_DP=19128;p3_1000G_EAS_AF=0.7966;p3_1000G_EUR_AF=0.4861;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45137087;p3_1000G_GRCH37_REF=T;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.6452;p3_1000G_VT=SNP;ESP6500_AA=T;ESP6500_AA_AC=827,3579;ESP6500_AA_AGE=325.9+/-299.3;ESP6500_AA_GTC=85,657,1461;ESP6500_CDS_SIZES=NM_022842.3:2511;ESP6500_CG=1.7;ESP6500_CP=0.0;ESP6500_DBSNP=dbSNP_94;ESP6500_DP=38;ESP6500_EA_AC=4143,4457;ESP6500_EA_AGE=563.6+/-388.2;ESP6500_EA_GTC=1014,2115,1171;ESP6500_EXOME_CHIP=no;ESP6500_FG=NM_022842.3:intron;ESP6500_GL=CDCP1;ESP6500_GRCh38_POSITION=3:45095595;ESP6500_GTC=1099,2772,2632;ESP6500_GTS=GG,GT,TT;ESP6500_HGVS_CDNA_VAR=NM_022842.3:c.1025-27A>C;ESP6500_MAF=48.1744,18.7699,38.2131;ESP6500_TAC=4970,8036	GT:AD:DP:GQ:PL	1/1:0,25:25:75:968,75,0
chr3	45146089	rs749763952;rs770228014	T	TCTCCGCACC	297.73	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=1.16;ClippingRankSum=0;DP=23;ExcessHet=3.0103;FS=5.643;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.478;SOR=2.303;INS;HET;VARTYPE=INS;dbSNPBuildID=144,144;ANN=TCTCCGCACC|intron_variant|MODIFIER|CDCP1|CDCP1|transcript|NM_022842.4|protein_coding|1/8|c.82+108_82+116dupGGTGCGGAG||||||,TCTCCGCACC|intron_variant|MODIFIER|CDCP1|CDCP1|transcript|NM_178181.2|protein_coding|1/3|c.82+108_82+116dupGGTGCGGAG||||||	GT:AD:DP:GQ:PL	0/1:14,8:22:99:335,0,561
chr3	45146179	rs1863837	C	T	741.77	PASS	AC=1;SAMPLES_AF=0.5;AN=2;BaseQRankSum=-2.125;ClippingRankSum=0;DP=62;ExcessHet=3.0103;FS=2.222;MLEAC=1;MLEAF=0.5;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.066;SOR=1.154;SNP;HET;VARTYPE=SNP;dbSNP138_ID=rs1863837;dbSNPBuildID=92;ANN=T|intron_variant|MODIFIER|CDCP1|CDCP1|transcript|NM_022842.4|protein_coding|1/8|c.82+27G>A||||||,T|intron_variant|MODIFIER|CDCP1|CDCP1|transcript|NM_178181.2|protein_coding|1/3|c.82+27G>A||||||;p3_1000G_AA=C|||;p3_1000G_AC=3208;p3_1000G_AF=0.640575;p3_1000G_AFR_AF=0.5348;p3_1000G_AMR_AF=0.6124;p3_1000G_AN=5008;p3_1000G_DP=12024;p3_1000G_EAS_AF=0.7411;p3_1000G_EUR_AF=0.5895;p3_1000G_GRCH37_38_REF_STRING_MATCH;p3_1000G_GRCH37_POS=45187671;p3_1000G_GRCH37_REF=C;p3_1000G_NS=2504;p3_1000G_SAS_AF=0.7526;p3_1000G_VT=SNP;ESP6500_AA=C;ESP6500_AA_AC=2354,1992;ESP6500_AA_GTC=666,1022,485;ESP6500_CDS_SIZES=NM_178181.1:1032